Mutations with COSMIC Hits Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer chromosome_name start stop reference variant type gene_name Transcript_Name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position Transcript_Annotation ucsc_cons domain all_domains deletion_substructures transcript_error comment COSMIC_gene COSMIC_chrom COSMIC_start COSMIC_stop COSMIC_amino COSMIC_nucleotide COSMIC_status FLG2 388698 genome.wustl.edu 36 1 150595558 150595558 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150595558 150595558 T A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.1328 p.E443V 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 1 150595560 150595560 p.F442L c.1326C>G Confirmed PLA2G4A 5321 genome.wustl.edu 36 1 185186473 185186473 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 185186473 185186473 C G SNP PLA2G4A NM_024420 human genbank 54_36p 1 reviewed missense c.1326 p.H442Q 0.96 "HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B,PatternScan_PPASE,PatternScan_SUBTILASE_ASP" - no_errors PLA2G4A 1 185186473 185186473 p.H442Q c.1326C>G Confirmed OR2T34 127068 genome.wustl.edu 36 1 246804504 246804504 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246804504 246804504 G T SNP OR2T34 NM_001001821 human genbank 54_36p -1 provisional missense c.178 p.L60I 0.96 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T34 1 246804502 246804502 p.L60L c.180C>A Confirmed PTEN 5728 genome.wustl.edu 36 10 89701885 89701885 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 89701885 89701885 G T SNP PTEN NM_000314 human genbank 54_36p 1 reviewed missense c.523 p.V175L 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors PTEN 10 89701884 89701884 p.Y174* c.522T>G Confirmed KRAS 3845 genome.wustl.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 25289551 25289551 C A SNP KRAS NM_033360 human genbank 54_36p -1 reviewed missense c.35 p.G12V 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors KRAS 12 25289551 25289551 p.G12D c.35G>A Previously Observed FLT3 2322 genome.wustl.edu 36 13 27506122 27506122 + Missense_Mutation SNP A G G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27506122 27506122 A G SNP FLT3 NM_004119 human genbank 54_36p -1 reviewed missense c.1844 p.V615A 0.92 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SSF48726,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors FLT3 p.614_615>EYDLKWEFPRENLEFGK c.1837_1838ins51 Unknown GPR132 29933 genome.wustl.edu 36 14 104589053 104589053 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104589053 104589053 G A SNP GPR132 NM_013345 human genbank 54_36p -1 reviewed missense c.466 p.R156W 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR132 14 104589052 104589052 p.R156Q c.467G>A Confirmed CHD8 57680 genome.wustl.edu 36 14 20943240 20943240 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20943240 20943240 C T SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.2438 p.R813H 1 HMMPfam_SNF2_N "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CHD8 14 20943240 20943240 p.R1092H c.3275G>A Confirmed RTN1 6252 genome.wustl.edu 36 14 59263426 59263426 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59263426 59263426 C T SNP RTN1 NM_021136 human genbank 54_36p -1 reviewed missense c.1729 p.A577T 0 NULL "HMMPfam_Reticulon,PatternScan_HISTONE_H4" - no_errors RTN1 14 59263427 59263427 p.G576G c.1728C>T Confirmed DCC 1630 genome.wustl.edu 36 18 48937840 48937840 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 48937840 48937840 C G SNP DCC NM_005215 human genbank 54_36p 1 validated missense c.1378 p.Q460E 1 "HMMSmart_SM00409,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_Neogenin_C" - no_errors DCC 18 48937844 48937844 p.T461I c.1382C>T Confirmed SNRPA 6626 genome.wustl.edu 36 19 45957227 45957227 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 45957227 45957227 A G SNP SNRPA NM_004596 human genbank 54_36p 1 provisional missense c.298 p.T100A 1 superfamily_SSF54928 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors SNRPA 19 45957225 45957225 p.G99D c.296G>A Confirmed MOCS3 27304 genome.wustl.edu 36 20 49008919 49008919 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 49008919 49008919 C A SNP MOCS3 NM_014484 human genbank 54_36p 1 reviewed missense c.133 p.P45T 0 NULL "superfamily_MoeB,HMMPfam_ThiF,HMMPfam_MoeZ_MoeB,superfamily_Rhodanese-like,HMMPfam_Rhodanese,HMMSmart_RHOD" - no_errors MOCS3 20 49008917 49008917 p.V44G c.131T>G Confirmed SEMA5B 54437 genome.wustl.edu 36 3 124162677 124162677 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 124162677 124162677 C A SNP SEMA5B NM_001031702 human genbank 54_36p -1 validated missense c.124 p.G42C 0.1 NULL "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors SEMA5B 3 124162677 124162677 p.G42S c.124G>A Confirmed PIK3CA 5290 genome.wustl.edu 36 3 180411038 180411038 + Silent SNP C C T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180411038 180411038 C T SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed silent c.1530 p.H510 1 superfamily_ARM-type_fold ############################################################################################################################################################################################################################################################### - no_errors PIK3CA 3 180411038 180411038 p.H510H c.1530C>T Unknown PIK3CA 5290 genome.wustl.edu 36 3 180418785 180418785 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180418785 180418785 G A SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed missense c.1633 p.E545K 1 "HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold" ############################################################################################################################################################################################################################################################### - no_errors PIK3CA 3 180418785 180418785 p.E545K c.1633G>A Previously Observed PIK3CA 5290 genome.wustl.edu 36 3 180434779 180434779 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180434779 180434779 A G SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed missense c.3140 p.H1047R 1 "HMMSmart_PI3Kc,superfamily_Kinase_like" ############################################################################################################################################################################################################################################################### - no_errors PIK3CA 3 180434779 180434779 p.H1047R c.3140A>G Confirmed TCTEX1D2 255758 genome.wustl.edu 36 3 197502604 197502604 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 197502604 197502604 G C SNP TCTEX1D2 NM_152773 human genbank 54_36p -1 provisional missense c.420 p.F140L 1 HMMPfam_Tctex-1 HMMPfam_Tctex-1 - no_errors TCTEX1D2 3 197502604 197502604 p.F140L c.420C>G Confirmed NEK10 152110 genome.wustl.edu 36 3 27179022 27179022 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 27179022 27179022 C G SNP NEK10 ENST00000396636 human ensembl 54_36p -1 known missense c.1135 p.E379Q 0.98 NULL "HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR" - no_errors NEK10 3 27318224 27318224 p.E379K c.1135G>A Confirmed FBXW7 55294 genome.wustl.edu 36 4 153466739 153466739 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 153466739 153466739 G A SNP FBXW7 NM_033632 human genbank 54_36p -1 reviewed missense c.1513 p.R505C 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors FBXW7 4 153466739 153466739 p.R505C c.1513C>T Previously Observed SNX25 83891 genome.wustl.edu 36 4 186504684 186504684 + Splice_Site SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 186504684 186504684 G A SNP SNX25 NM_031953 human genbank 54_36p 1 validated splice_site c.1696-1 e12-1 1 - - - no_errors SNX25 4 186504687 186504687 p.C566C c.1698C>T Confirmed CSN3 1448 genome.wustl.edu 36 4 71149395 71149395 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 71149395 71149395 C A SNP CSN3 NM_005212 human genbank 54_36p 1 validated missense c.179 p.T60N 0 HMMPfam_Casein_kappa HMMPfam_Casein_kappa - no_errors CSN3 4 71149398 71149398 p.N61S c.182A>G Confirmed APC 324 genome.wustl.edu 36 5 112202549 112202549 + Missense_Mutation SNP G G A rs28933379 Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 112202549 112202549 G A SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.3359 p.G1120E 1 NULL "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding" - no_errors APC 5 112202549 112202549 p.G1120E c.3359G>A Confirmed BRAF 673 genome.wustl.edu 36 7 140095638 140095638 + Nonsense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 140095638 140095638 G C SNP BRAF NM_004333 human genbank 54_36p -1 reviewed nonsense c.1910 p.S637* 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors BRAF 7 140095642 140095642 p.Q636E c.1906C>G Confirmed COL1A2 1278 genome.wustl.edu 36 7 93892885 93892885 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 93892885 93892885 G A SNP COL1A2 NM_000089 human genbank 54_36p 1 reviewed missense c.2809 p.G937S 1 HMMPfam_Collagen "HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL1A2 7 93892889 93892889 p.R938H c.2813G>A Confirmed PTCH1 5727 genome.wustl.edu 36 9 97260321 97260321 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9 97260321 97260321 A T SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.2963 p.V988E 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors PTCH1 9 97260319 97260319 p.E989* c.2965G>T Confirmed IRS4 8471 genome.wustl.edu 36 X 107863319 107863319 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 107863319 107863319 G A SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed missense c.2912 p.P971L 0.06 NULL "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI" - no_errors IRS4 23 107863315 107863316 p.A972>V c.2915_2916CA>TT Confirmed GLRA2 2742 genome.wustl.edu 36 X 14537180 14537180 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 14537180 14537180 G A SNP GLRA2 NM_002063 human genbank 54_36p 1 validated missense c.862 p.A288T 1 "superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors GLRA2 23 14537180 14537180 p.A288S c.862G>T Confirmed MAGEA1 4100 genome.wustl.edu 36 X 152135372 152135372 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 152135372 152135372 T A SNP MAGEA1 NM_004988 human genbank 54_36p -1 reviewed missense c.833 p.K278I 0 HMMPfam_MAGE HMMPfam_MAGE - no_errors MAGEA1 23 152135372 152135372 p.K278T c.833A>C Confirmed CACNA1F 778 hgsc.bcm.edu 36 X 48971729 48971729 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 48971729 48971729 G C SNP CACNA1F NM_005183 human genbank 54_36p -1 reviewed missense c.942 p.D314E 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1F 23 48971731 48971731 p.D314N c.940G>A Confirmed CFP 5199 hgsc.bcm.edu 36 X 47374178 47374178 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 47374178 47374178 C T SNP CFP NM_002621 human genbank 54_36p -1 reviewed missense c.10 p.E4K 0 NULL "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1" - no_errors CFP 23 47374180 47374180 p.T3I c.8C>T Confirmed FAM123B 139285 hgsc.bcm.edu 36 X 63329263 63329263 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID X 63329263 63329263 G A SNP FAM123B NM_152424 human genbank 54_36p -1 validated missense c.629 p.S210L 0.11 HMMPfam_WTX HMMPfam_WTX - no_errors FAM123B 23 63329263 63329263 p.S210* c.629C>G Confirmed ETV3L 440695 hgsc.bcm.edu 36 1 155329520 155329520 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 155329520 155329520 A G SNP ETV3L NM_001004341 human genbank 54_36p -1 provisional missense c.631 p.C211R 0.02 NULL "superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors ETV3L 1 155329520 155329520 p.C211G c.631T>G Confirmed FAM5C 339479 hgsc.bcm.edu 36 1 188396505 188396505 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 188396505 188396505 A G SNP FAM5C NM_199051 human genbank 54_36p -1 provisional missense c.1100 p.L367P 0.97 NULL "HMMPfam_MACPF,HMMSmart_SM00457" - no_errors FAM5C 1 188396507 188396507 p.F366F c.1098C>T Confirmed FBXO6 26270 hgsc.bcm.edu 36 1 11655959 11655959 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 11655959 11655959 T A SNP FBXO6 NM_018438 human genbank 54_36p 1 reviewed missense c.548 p.L183H 0.01 "HMMPfam_FBA,superfamily_Galactose-binding domain-like" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMPfam_FBA,superfamily_Galactose-binding domain-like" - no_errors FBXO6 1 11655960 11655960 p.L183L c.549C>G Confirmed PRKCZ 5590 hgsc.bcm.edu 36 1 2072179 2072179 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 1 2072179 2072179 C T SNP PRKCZ NM_002744 human genbank 54_36p 1 reviewed missense c.778 p.R260C 1 "HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors PRKCZ 1 2072180 2072180 p.R260H c.779G>A Confirmed TOR1AIP1 26092 hgsc.bcm.edu 36 1 178153307 178153307 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 178153307 178153307 C A SNP TOR1AIP1 NM_015602 human genbank 54_36p 1 validated missense c.1062 p.F354L 0 HMMPfam_LAP1C HMMPfam_LAP1C - no_errors TOR1AIP1 1 178153307 178153307 p.F354F c.1062C>T Confirmed TRIM58 25893 hgsc.bcm.edu 36 1 246106397 246106397 + Missense_Mutation SNP A A G novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 1 246106397 246106397 A G SNP TRIM58 NM_015431 human genbank 54_36p 1 validated missense c.1444 p.R482G 0.01 NULL "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,HMMPfam_SPRY,HMMSmart_PRY,PatternScan_ZF_RING_1,HMMSmart_SPRY,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors TRIM58 1 246106395 246106395 p.V481A c.1442T>C Confirmed BCL11A 53335 hgsc.bcm.edu 36 2 60542989 60542989 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 2 60542989 60542989 G A SNP BCL11A NM_022893 human genbank 54_36p -1 reviewed missense c.562 p.H188Y 1 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors BCL11A 2 60542986 60542986 p.A189T c.565G>A Confirmed RNF25 64320 hgsc.bcm.edu 36 2 219237067 219237067 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 2 219237067 219237067 T C SNP RNF25 NM_022453 human genbank 54_36p -1 reviewed missense c.1237 p.R413G 1 NULL "HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors RNF25 2 219237065 219237065 p.R413R c.1239G>A Confirmed CELSR3 1951 hgsc.bcm.edu 36 3 48655322 48655322 + Splice_Site SNP C C T novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 48655322 48655322 C T SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed splice_site c.8407-1 e30-1 1 - - - no_errors CELSR3 3 48655321 48655321 p.G2803R c.8407G>A Confirmed KLF15 28999 hgsc.bcm.edu 36 3 127554211 127554211 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 3 127554211 127554211 G C SNP KLF15 NM_014079 human genbank 54_36p -1 validated missense c.245 p.S82C 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors KLF15 3 127554212 127554212 p.S82T c.244T>A Confirmed PBRM1 55193 hgsc.bcm.edu 36 3 52660820 52660820 + Missense_Mutation SNP T T C novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 3 52660820 52660820 T C SNP PBRM1 NM_018165 human genbank 54_36p -1 validated missense c.692 p.K231R 1 "superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" "superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_BAH,HMMSmart_BAH,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors PBRM1 p.T232P c.694A>C Confirmed RTP1 132112 hgsc.bcm.edu 36 3 188400128 188400128 + Missense_Mutation SNP T C C novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 188400128 188400128 T C SNP RTP1 NM_153708 human genbank 54_36p 1 validated missense c.368 p.V123A 1 NULL NULL - no_errors RTP1 3 188400130 188400130 p.R124S c.370C>A Confirmed SETD2 29072 hgsc.bcm.edu 36 3 47137595 47137595 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 3 47137595 47137595 C G SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed missense c.2026 p.D676H 0.65 NULL "superfamily_Ferritin/RR_like,superfamily_SSF82199,HMMSmart_AWS,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,HMMPfam_SRI_2" - no_errors SETD2 3 47137593 47137593 p.D676D c.2028C>T Confirmed FBXW7 55294 hgsc.bcm.edu 36 4 153468834 153468834 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 4 153468834 153468834 C T SNP FBXW7 NM_033632 human genbank 54_36p -1 reviewed missense c.1394 p.R465H 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_WD40 repeat-like,superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors FBXW7 4 153468834 153468834 p.R465H c.1394G>A Previously Observed ARHGEF38 54848 hgsc.bcm.edu 36 4 106729858 106729858 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 G G G C G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 4 106729858 106729858 G C SNP FLJ20184 NM_017700 human genbank 54_36p 1 predicted missense c.201 p.K67N 1 NULL "HMMPfam_RhoGEF,superfamily_DH-domain,PatternScan_DH_1" - no_errors FLJ20184 4 106729858 106729858 p.K67N c.201G>C Confirmed KIT 3815 hgsc.bcm.edu 36 4 55288401 55288401 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 4 55288401 55288401 C A SNP KIT NM_000222 human genbank 54_36p 1 reviewed nonsense c.1710 p.Y570* 1 NULL "HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726" - no_errors KIT 4 55288397 55288397 p.V569A c.1706T>C Confirmed APC 324 hgsc.bcm.edu 36 5 112201745 112201745 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 112201745 112201745 T C SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.2555 p.L852S 0.98 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors APC 5 112201745 112201745 p.L852* c.2555T>A Confirmed APC 324 hgsc.bcm.edu 36 5 112203047 112203047 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 112203047 112203047 A G SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.3857 p.E1286G 1 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors APC 5 112203047 112203047 p.I1287fs*1 c.3857delA Confirmed KDM3B 51780 hgsc.bcm.edu 36 5 137736317 137736317 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 137736317 137736317 A G SNP JMJD1B NM_016604 human genbank 54_36p 1 validated missense c.248 p.H83R 1 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC" - no_errors JMJD1B 5 137736316 137736316 p.H83Y c.247C>T Confirmed MAPK9 5601 hgsc.bcm.edu 36 5 179624429 179624429 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 179624429 179624429 T C SNP MAPK9 NM_002752 human genbank 54_36p -1 reviewed missense c.269 p.N90S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST" - no_errors MAPK9 5 179624427 179624427 p.V91M c.271G>A Confirmed NIPBL 25836 hgsc.bcm.edu 36 5 37011811 37011811 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 37011811 37011811 A G SNP NIPBL NM_133433 human genbank 54_36p 1 reviewed missense c.1045 p.S349G 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors NIPBL 5 37011811 37011811 p.S349C c.1045A>T Confirmed NIPBL 25836 hgsc.bcm.edu 36 5 37055186 37055186 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 5 37055186 37055186 A G SNP NIPBL NM_133433 human genbank 54_36p 1 reviewed missense c.4937 p.D1646G 1 superfamily_ARM repeat superfamily_ARM repeat - no_errors NIPBL 5 37055188 37055188 p.E1647K c.4939G>A Confirmed NR2F1 7025 hgsc.bcm.edu 36 5 92946865 92946865 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 5 92946865 92946865 A G SNP NR2F1 NM_005654 human genbank 54_36p 1 provisional missense c.380 p.N127S 1 "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716" "HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMPfam_zf-C4_C,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors NR2F1 5 92946863 92946863 p.R126R c.378G>A Confirmed UGT3A2 167127 hgsc.bcm.edu 36 5 36071585 36071585 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 5 36071585 36071585 C T SNP UGT3A2 NM_174914 human genbank 54_36p -1 provisional missense c.1544 p.R515H 0.18 HMMPfam_UDPGT "superfamily_SSF53756,HMMPfam_UDPGT,PatternScan_UDPGT" - no_errors UGT3A2 5 36071585 36071585 p.R515H c.1544G>A Confirmed TNFAIP3 7128 hgsc.bcm.edu 36 6 138237686 138237686 + Missense_Mutation SNP T T G novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 6 138237686 138237686 T G SNP TNFAIP3 NM_006290 human genbank 54_36p 1 reviewed missense c.307 p.C103G 1 HMMPfam_OTU "HMMPfam_zf-A20,HMMSmart_ZnF_A20,HMMPfam_OTU" - no_errors TNFAIP3 6 138237684 138237684 p.N102S c.305A>G Unknown TTK 7272 hgsc.bcm.edu 36 6 80808616 80808616 + Frame_Shift_Del DEL A A - novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 6 80808616 80808616 A - DEL TTK NM_003318 human genbank 54_36p 1 provisional frame_shift_del c.2552 p.R854fs 0.08 NULL "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "(deletion:cds_exon[80808555,80808638])" no_errors TTK 6 80808616 80808616 p.R838fs*4 c.2512delA Confirmed EGFR 1956 hgsc.bcm.edu 36 7 55209171 55209171 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 55209171 55209171 G C SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.2125 p.E709Q 1 superfamily_Protein kinase-like (PK-like) ############################################################################################################################################################################################################################################################### - no_errors EGFR 7 55209171 55209171 p.E709K c.2125G>A Previously Observed EGFR 1956 hgsc.bcm.edu 36 7 55216511 55216511 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 55216511 55216511 C G SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.2315 p.P772R 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors EGFR 7 55216511 55216512 p.P772_H773insTHP c.2315_2316insGACACACCC Confirmed EGFR 1956 hgsc.bcm.edu 36 7 55226952 55226952 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 55226952 55226952 C T SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.2516 p.A839V 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors EGFR 7 55226948 55226948 p.L838V c.2512C>G Confirmed EPHB4 2050 hgsc.bcm.edu 36 7 100248358 100248358 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 7 100248358 100248358 C T SNP EPHB4 NM_004444 human genbank 54_36p -1 reviewed missense c.2065 p.V689I 0.98 "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors EPHB4 7 100248359 100248359 p.P688P c.2064C>A Confirmed PIK3CG 5294 hgsc.bcm.edu 36 7 106296575 106296575 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 7 106296575 106296575 G T SNP PIK3CG NM_002649 human genbank 54_36p 1 reviewed missense c.1333 p.A445S 0.19 "HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2" ############################################################################################################################################################################################################################################################### - no_errors PIK3CG 7 106296576 106296576 p.A445V c.1334C>T Confirmed SNX8 29886 hgsc.bcm.edu 36 7 2278112 2278112 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 7 2278112 2278112 C A SNP SNX8 NM_013321 human genbank 54_36p -1 provisional missense c.439 p.A147S 1 "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain" "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain" - no_errors SNX8 7 2278111 2278111 p.A147G c.440C>G Confirmed MTDH 92140 hgsc.bcm.edu 36 8 98800510 98800510 + Missense_Mutation SNP A A G novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 8 98800510 98800510 A G SNP MTDH NM_178812 human genbank 54_36p 1 validated missense c.1438 p.T480A 1 NULL NULL - no_errors MTDH 8 98800512 98800512 p.T480T c.1440C>T Confirmed CD274 29126 hgsc.bcm.edu 36 9 5452907 5452907 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 5452907 5452907 G T SNP CD274 NM_014143 human genbank 54_36p 1 provisional missense c.468 p.Q156H 1 "superfamily_Immunoglobulin,HMMPfam_C2-set_2,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_C2-set_2" - no_errors CD274 9 5452908 5452908 p.A157T c.469G>A Confirmed JAK2 3717 hgsc.bcm.edu 36 9 5062586 5062586 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 9 5062586 5062586 T C SNP JAK2 NM_004972 human genbank 54_36p 1 reviewed missense c.1736 p.L579P 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors JAK2 9 5062585 5062585 p.L579F c.1735C>T Unknown NOTCH1 4851 hgsc.bcm.edu 36 9 138510763 138510763 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 138510763 138510763 G C SNP NOTCH1 NM_017617 human genbank 54_36p -1 reviewed missense c.7249 p.P2417A 0.61 NULL ############################################################################################################################################################################################################################################################### - no_errors NOTCH1 p.P2416del c.? Unknown PTCH1 5727 hgsc.bcm.edu 36 9 97279757 97279757 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 9 97279757 97279757 G C SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.1396 p.Q466E 1 "HMMPfam_Patched,superfamily_SSF82866" "HMMPfam_Patched,superfamily_SSF82866" - no_errors PTCH1 9 97279757 97279757 p.Q466* c.1396C>T Confirmed MYO3A 53904 hgsc.bcm.edu 36 10 26425326 26425326 + Missense_Mutation SNP A C C novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 26425326 26425326 A C SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.1573 p.N525H 1 "superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head" "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ" - no_errors MYO3A 10 26425328 26425328 p.N525K c.1575T>A Confirmed MYO3A 53904 hgsc.bcm.edu 36 10 26425327 26425327 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 26425327 26425327 A G SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.1574 p.N525S 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540" - no_errors MYO3A 10 26425328 26425328 p.N525K c.1575T>A Confirmed MYO3A 53904 hgsc.bcm.edu 36 10 26425327 26425327 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 26425327 26425327 A G SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.1574 p.N525S 1 "HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540" "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540" - no_errors MYO3A 10 26425328 26425328 p.N525K c.1575T>A Confirmed MYST4 23522 hgsc.bcm.edu 36 10 76451912 76451914 + In_Frame_Del DEL GAA GAA - rs3217598 Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 GAA GAA . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 76451912 76451914 GAA - DEL MYST4 NM_012330 human genbank 54_36p 1 validated in_frame_del c.3289_3291 p.E1100in_frame_del 0.145:0.135:0.125 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" "(deletion:cds_exon[76451645,76451995])" no_errors MYST4 10 76451914 76451914 p.E1097E c.3291A>G Confirmed MYST4 23522 hgsc.bcm.edu 36 10 76451914 76451914 + Silent SNP A A G novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 76451914 76451914 A G SNP MYST4 NM_012330 human genbank 54_36p 1 validated silent c.3291 p.E1097 0.13 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" - no_errors MYST4 10 76451914 76451914 p.E1097E c.3291A>G Confirmed MYST4 23522 hgsc.bcm.edu 36 10 76451914 76451914 + Silent SNP A A G novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 10 76451914 76451914 A G SNP MYST4 NM_012330 human genbank 54_36p 1 validated silent c.3291 p.E1097 0.13 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" - no_errors MYST4 10 76451914 76451914 p.E1097E c.3291A>G Confirmed PI4K2A 55361 hgsc.bcm.edu 36 10 99406689 99406689 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 10 99406689 99406689 T C SNP PI4K2A NM_018425 human genbank 54_36p 1 provisional missense c.890 p.L297S 1 HMMPfam_PI3_PI4_kinase "PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF56399,HMMPfam_PI3_PI4_kinase" - no_errors PI4K2A 10 99406691 99406691 p.V298M c.892G>A Confirmed KRTAP5-5 439915 hgsc.bcm.edu 36 11 1607696 1607696 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 1607696 1607696 G T SNP KRTAP5-5 NM_001001480 human genbank 54_36p 1 validated missense c.50 p.R17L 0.99 NULL "PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_2FE2S_FER_1" - no_errors KRTAP5-5 11 1607695 1607695 p.R17C c.49C>T Confirmed MMP3 4314 hgsc.bcm.edu 36 11 102215174 102215174 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 102215174 102215174 G A SNP MMP3 NM_002422 human genbank 54_36p -1 reviewed missense c.946 p.R316C 1 "superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" ############################################################################################################################################################################################################################################################### - no_errors MMP3 11 102215174 102215174 p.R316C c.946C>T Confirmed MUC15 143662 hgsc.bcm.edu 36 11 26541255 26541255 + Silent SNP G G A novel Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 26541255 26541255 G A SNP MUC15 NM_145650 human genbank 54_36p -1 validated silent c.828 p.D276 0.99 NULL NULL - no_errors MUC15 11 26541255 26541255 p.D276D c.828C>T Confirmed SCYL1 57410 hgsc.bcm.edu 36 11 65060098 65060098 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 65060098 65060098 C G SNP SCYL1 NM_020680 human genbank 54_36p 1 reviewed missense c.1485 p.H495Q 1 superfamily_ARM repeat "superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,HMMPfam_HEAT" - no_errors SCYL1 11 65060096 65060096 p.H495Y c.1483C>T Confirmed WNT11 7481 hgsc.bcm.edu 36 11 75575791 75575791 + Missense_Mutation SNP C C T novel Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 75575791 75575791 C T SNP WNT11 NM_004626 human genbank 54_36p -1 reviewed missense c.1031 p.C344Y 0.99 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors WNT11 11 75575793 75575793 p.R343R c.1029G>A Confirmed WNT11 7481 hgsc.bcm.edu 36 11 75575791 75575791 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 11 75575791 75575791 C T SNP WNT11 NM_004626 human genbank 54_36p -1 reviewed missense c.1031 p.C344Y 0.99 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors WNT11 11 75575793 75575793 p.R343R c.1029G>A Confirmed CHD4 1108 hgsc.bcm.edu 36 12 6575524 6575524 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 6575524 6575524 G C SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.1933 p.R645G 1 "HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors CHD4 12 6575522 6575522 p.R645R c.1935G>A Confirmed DDIT3 1649 hgsc.bcm.edu 36 12 56197026 56197026 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 56197026 56197026 C T SNP DDIT3 NM_004083 human genbank 54_36p -1 validated missense c.343 p.A115T 1 "HMMSmart_SM00338,HMMPfam_bZIP_2" "HMMSmart_SM00338,HMMPfam_bZIP_2" - no_errors DDIT3 12 56197025 56197025 p.A115V c.344C>T Confirmed GLI1 2735 hgsc.bcm.edu 36 12 56152069 56152069 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 12 56152069 56152069 A T SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.3279 p.R1093S 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors GLI1 12 56152071 56152071 p.S1094F c.3281C>T Confirmed HNF1A 6927 hgsc.bcm.edu 36 12 119921766 119921766 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 119921766 119921766 G A SNP HNF1A NM_000545 human genbank 54_36p 1 reviewed missense c.1721 p.S574N 0.09 HMMPfam_HNF-1A_C "superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C,HMMPfam_HNF-1A_C" - no_errors HNF1A 12 119921766 119921766 p.G574D c.1721G>A Confirmed MLL2 8085 hgsc.bcm.edu 36 12 47711527 47711527 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 12 47711527 47711527 C A SNP MLL2 NM_003482 human genbank 54_36p -1 validated missense c.13228 p.A4410S 0.11 NULL ############################################################################################################################################################################################################################################################### - no_errors MLL2 12 47709489 47709489 p.A4409A c.13227C>T Confirmed UNG 7374 hgsc.bcm.edu 36 12 108020600 108020600 + Missense_Mutation SNP T T C novel Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 T T . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 108020600 108020600 T C SNP UNG NM_003362 human genbank 54_36p 1 reviewed missense c.86 p.L29P 0 NULL "superfamily_DNA glycosylase,HMMPfam_UDG,PatternScan_U_DNA_GLYCOSYLASE" - no_errors UNG 12 108020601 108020601 p.L29L c.87C>T Confirmed PCDH20 64881 hgsc.bcm.edu 36 13 60884665 60884665 + Missense_Mutation SNP A A C novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 13 60884665 60884665 A C SNP PCDH20 NM_022843 human genbank 54_36p -1 validated missense c.1487 p.V496G 1 "superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1" "HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDH20 13 60884666 60884666 p.V496M c.1486G>A Confirmed BRF1 2972 hgsc.bcm.edu 36 14 104755073 104755073 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 14 104755073 104755073 A G SNP BRF1 NM_001519 human genbank 54_36p -1 reviewed missense c.1625 p.V542A 1 HMMPfam_BRF1 "HMMPfam_TFIIB_Zn_Ribbon,superfamily_Zinc beta-ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB,HMMPfam_BRF1" - no_errors BRF1 14 104755074 104755074 p.V542M c.1624G>A Confirmed FOXG1 2290 hgsc.bcm.edu 36 14 28307616 28307616 + Missense_Mutation SNP G G C novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 14 28307616 28307616 G C SNP FOXG1 NM_005249 human genbank 54_36p 1 reviewed missense c.1380 p.L460F 1 NULL "HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors FOXG1 14 28307616 28307616 p.L460F c.1380G>C Confirmed RBM25 58517 hgsc.bcm.edu 36 14 72645841 72645841 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 A A . . . . Unknown Unknown Somatic Phase_III Capture SOLID 14 72645841 72645841 A G SNP RBM25 NM_021239 human genbank 54_36p 1 validated missense c.1580 p.K527R 1 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI" - no_errors RBM25 14 72645842 72645842 p.K527K c.1581G>A Confirmed SLC24A4 123041 hgsc.bcm.edu 36 14 92018837 92018837 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 T T T A T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 14 92018837 92018837 T A SNP SLC24A4 NM_153646 human genbank 54_36p 1 validated missense c.1265 p.V422D 0.97 NULL HMMPfam_Na_Ca_ex - no_errors SLC24A4 14 92018836 92018836 p.V422I c.1264G>A Confirmed FURIN 5045 hgsc.bcm.edu 36 15 89225685 89225685 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 15 89225685 89225685 G A SNP FURIN NM_002569 human genbank 54_36p 1 reviewed missense c.1958 p.G653E 1 "superfamily_Grow_fac_recept,HMMSmart_FU" "superfamily_Prot_inh_propept,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Gal_bind_like,HMMPfam_P_proprotein,HMMSmart_FU,superfamily_Grow_fac_recept" - no_errors FURIN 15 89225687 89225687 p.P654S c.1960C>T Confirmed ABCA3 21 hgsc.bcm.edu 36 16 2276769 2276769 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 G G . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 16 2276769 2276769 G A SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed missense c.3205 p.H1069Y 0.04 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA3 16 2276767 2276767 p.H1069Q c.3207C>G Confirmed ATP2A1 487 hgsc.bcm.edu 36 16 28820694 28820694 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 28820694 28820694 G T SNP ATP2A1 NM_173201 human genbank 54_36p 1 reviewed missense c.2110 p.G704C 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Hydrolase,superfamily_HAD-like" ############################################################################################################################################################################################################################################################### - no_errors ATP2A1 16 28820696 28820696 p.G704G c.2112C>T Confirmed C16orf79 283870 hgsc.bcm.edu 36 16 2199694 2199694 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 16 2199694 2199694 C A SNP C16orf79 NM_182563 human genbank 54_36p -1 predicted missense c.453 p.W151C 0 NULL NULL - no_errors C16orf79 16 2199693 2199693 p.V152I c.454G>A Confirmed CDH1 999 hgsc.bcm.edu 36 16 67403201 67403201 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A G A A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 67403201 67403201 A G SNP CDH1 NM_004360 human genbank 54_36p 1 reviewed missense c.946 p.M316V 0.91 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C" - no_errors CDH1 16 67403199 67403199 p.N315S c.944A>G Confirmed CDC27 996 hgsc.bcm.edu 36 17 42571159 42571159 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 42571159 42571159 A C SNP CDC27 NM_001256 human genbank 54_36p -1 reviewed missense c.1649 p.V550G 1 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors CDC27 17 42571161 42571161 p.D549E c.1647T>G Confirmed CDC27 996 hgsc.bcm.edu 36 17 42571161 42571161 + Missense_Mutation SNP A C C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 A A . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 42571161 42571161 A C SNP CDC27 NM_001256 human genbank 54_36p -1 reviewed missense c.1647 p.D549E 1 superfamily_SSF48452 "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452" - no_errors CDC27 17 42571161 42571161 p.D549E c.1647T>G Confirmed ERBB2 2064 hgsc.bcm.edu 36 17 35121734 35121734 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 35121734 35121734 C T SNP ERBB2 NM_004448 human genbank 54_36p 1 reviewed missense c.929 p.S310F 1 "superfamily_Growth factor receptor domain,HMMPfam_Furin-like" ############################################################################################################################################################################################################################################################### - no_errors ERBB2 17 35121734 35121734 p.S310F c.929C>T Confirmed ERBB2 2064 hgsc.bcm.edu 36 17 35135143 35135143 + Missense_Mutation SNP G G A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 35135143 35135143 G A SNP ERBB2 NM_004448 human genbank 54_36p 1 reviewed missense c.2687 p.R896H 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors ERBB2 17 35135142 35135142 p.R896C c.2686C>T Confirmed GGA3 23163 hgsc.bcm.edu 36 17 70747108 70747108 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 17 70747108 70747108 T A SNP GGA3 NM_138619 human genbank 54_36p -1 reviewed nonsense c.1723 p.K575* 0 NULL "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,superfamily_GAT-like domain,HMMPfam_GAT,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809" - no_errors GGA3 17 70747110 70747110 p.P574L c.1721C>T Confirmed ZNF286A 57335 hgsc.bcm.edu 36 17 15552269 15552269 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 15552269 15552269 C T SNP ZNF286A NM_020652 human genbank 54_36p 1 validated missense c.317 p.P106L 0.01 NULL "superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZNF286A 17 15552269 15552269 p.P106L c.317C>T Confirmed FCGBP 8857 hgsc.bcm.edu 36 19 45100661 45100661 + Missense_Mutation SNP C G G rs45613437 Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 45100661 45100661 C G SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.4018 p.V1340L 0 "HMMSmart_VWD,HMMPfam_VWD" "HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC" - no_errors FCGBP 19 45100663 45100663 p.P1339H c.4016C>A Confirmed KLK10 5655 hgsc.bcm.edu 36 19 56211177 56211177 + Missense_Mutation SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 56211177 56211177 C A SNP KLK10 NM_001077500 human genbank 54_36p -1 reviewed missense c.317 p.G106V 0.83 "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases" "HMMSmart_SM00020,HMMPfam_Trypsin,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS" - no_errors KLK10 19 56211178 56211178 p.G106R c.316G>A Confirmed MAST1 22983 hgsc.bcm.edu 36 19 12823779 12823779 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 12823779 12823779 C A SNP MAST1 NM_014975 human genbank 54_36p 1 provisional missense c.806 p.A269D 1 HMMPfam_DUF1908 "PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ" - no_errors MAST1 19 12823778 12823778 p.A269T c.805G>A Confirmed PTPRS 5802 hgsc.bcm.edu 36 19 5173817 5173817 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 5173817 5173817 T C SNP PTPRS NM_002850 human genbank 54_36p -1 reviewed missense c.2986 p.T996A 0.99 "superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060" ############################################################################################################################################################################################################################################################### - no_errors PTPRS 19 5173816 5173816 p.T996M c.2987C>T Confirmed TSHZ3 57616 hgsc.bcm.edu 36 19 36462022 36462022 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 19 36462022 36462022 C T SNP TSHZ3 NM_020856 human genbank 54_36p -1 validated missense c.517 p.A173T 1 NULL "PatternScan_HOMEOBOX_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors TSHZ3 19 36461471 36461471 p.S173S c.519C>T Confirmed ARFGEF2 10564 hgsc.bcm.edu 36 20 47038451 47038451 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 47038451 47038451 C G SNP ARFGEF2 NM_006420 human genbank 54_36p 1 reviewed missense c.2378 p.T793R 1 "superfamily_ARM-type_fold,superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7" "superfamily_ARM-type_fold,superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,HMMPfam_DUF1981" - no_errors ARFGEF2 20 47038453 47038453 p.K794E c.2380A>G Confirmed BTBD3 22903 hgsc.bcm.edu 36 20 11851653 11851653 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 20 11851653 11851653 C A SNP BTBD3 NM_014962 human genbank 54_36p 1 validated missense c.908 p.A303E 0.04 NULL "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_PHR" - no_errors BTBD3 20 11851652 11851652 p.A303T c.907G>A Confirmed SMARCB1 6598 hgsc.bcm.edu 36 22 22505823 22505823 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 22 22505823 22505823 C T SNP SMARCB1 NM_003073 human genbank 54_36p 1 reviewed missense c.1051 p.P351S 1 HMMPfam_SNF5 HMMPfam_SNF5 - no_errors SMARCB1 22 22505823 22505826 p.P351fs*5 c.1051_1054delCCAC Confirmed SMARCB1 6598 hgsc.bcm.edu 36 22 22505875 22505875 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 22 22505875 22505875 A G SNP SMARCB1 NM_003073 human genbank 54_36p 1 reviewed missense c.1103 p.Q368R 1 HMMPfam_SNF5 HMMPfam_SNF5 - no_errors SMARCB1 22 22505874 22505874 p.Q368* c.1102C>T Confirmed SMARCB1 6598 hgsc.bcm.edu 36 22 22505888 22505888 + Silent SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 22 22505888 22505888 G A SNP SMARCB1 NM_003073 human genbank 54_36p 1 reviewed silent c.1116 p.T372 0.98 HMMPfam_SNF5 HMMPfam_SNF5 - no_errors SMARCB1 22 22505888 22505888 p.T372T c.1116G>A Unknown GSTM5 2949 broad.mit.edu 36 1 110059274 110059274 + Splice_Site SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 1 110059274 110059274 G A SNP GSTM5 NM_000851 human genbank 54_36p 1 reviewed splice_site c.457-1 e7-1 1 - - - no_errors GSTM5 1 110059280 110059280 p.T154T c.462C>T Confirmed NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T T C rs11554290 by-hapmap TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 115058052 115058052 T C SNP NRAS NM_002524 human genbank 54_36p -1 reviewed missense c.182 p.Q61R 1 "HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NRAS 1 115058052 115058052 p.Q61R c.182A>G Confirmed NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T T C rs11554290 by-hapmap TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 115058052 115058052 T C SNP NRAS NM_002524 human genbank 54_36p -1 reviewed missense c.182 p.Q61R 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" - no_errors NRAS 1 115058052 115058052 p.Q61R c.182A>G Confirmed TDRD5 163589 broad.mit.edu 36 1 177926529 177926529 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 177926529 177926529 G A SNP TDRD5 NM_173533 human genbank 54_36p 1 provisional missense c.2774 p.R925H 0.01 NULL "HMMSmart_SM00333,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT" - no_errors TDRD5 1 177926529 177926529 p.R925H c.2774G>A Confirmed TPO 7173 broad.mit.edu 36 2 1467407 1467407 + Missense_Mutation SNP C C T novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 1467407 1467407 C T SNP TPO ENST00000308422 human ensembl 54_36p 1 known missense c.391 p.P131S 1 NULL "HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases" - no_start_codon TPO 2 1467407 1467407 p.I457I c.1371C>T Confirmed MSH2 4436 broad.mit.edu 36 2 47558954 47558954 + Frame_Shift_Del DEL G - G novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 47558954 47558954 G - DEL MSH2 NM_000251 human genbank 54_36p 1 reviewed frame_shift_del c.2250 p.G751fs 1 "HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2" "HMMPfam_MutS_I,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2" "(deletion:cds_exon[47558915,47559162])" no_errors MSH2 2 47558949 47558949 p.E749* c.2245G>T Confirmed ACVR1C 130399 broad.mit.edu 36 2 158107611 158107612 + Missense_Mutation DNP GC GC AA novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 GC GC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 2 158107611 158107612 GC AA DNP ACVR1C NM_145259 human genbank 54_36p -1 validated missense c.953_952 p.A318F 1.000:1.000 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase" "superfamily_Snake toxin-like,HMMPfam_Activin_recp,HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors ACVR1C 2 158107608 158107608 p.I319N c.956T>A Confirmed MYO3B 140469 broad.mit.edu 36 2 170948469 170948498 + In_Frame_Del DEL TCCAGACTTTATCATGGGGTGAAACGCGCC - TCCAGACTTTATCATGGGGTGAAACGCGCC novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D TCCAGACTTTATCATGGGGTGAAACGCGCC TCCAGACTTTATCATGGGGTGAAACGCGCC - - TCCAGACTTTATCATGGGGTGAAACGCGCC TCCAGACTTTATCATGGGGTGAAACGCGCC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 2 170948469 170948498 TCCAGACTTTATCATGGGGTGAAACGCGCC - DEL MYO3B NM_138995 human genbank 54_36p 1 provisional in_frame_del c.1189_1218 p.RLYHGVKRAS398in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.990:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.993:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.988:0.993:0.997:0.997 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head" ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[170948466,170948570])" no_errors MYO3B 2 170948494 170948494 p.R405L c.1214G>T Confirmed SP100 6672 broad.mit.edu 36 2 231077183 231077183 + Nonsense_Mutation SNP C C T novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 2 231077183 231077183 C T SNP SP100 NM_001080391 human genbank 54_36p 1 validated nonsense c.1804 p.Q602* 0 "HMMPfam_SAND,superfamily_SAND domain-like" "HMMPfam_SAND,HMMSmart_SM00258,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00249,HMMPfam_Sp100,superfamily_SAND domain-like,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD" - no_errors SP100 2 231077184 231077184 p.Q602L c.1805A>T Confirmed MLH1 4292 broad.mit.edu 36 3 37017540 37017540 + Nonsense_Mutation SNP C C T rs63751221 Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 37017540 37017540 C T SNP MLH1 NM_000249 human genbank 54_36p 1 reviewed nonsense c.298 p.R100* 1 "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1" "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_mis_repair" - no_errors MLH1 3 37017540 37017540 p.R100* c.298C>T Unknown GNAT1 2779 broad.mit.edu 36 3 50205602 50205602 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 3 50205602 50205602 A C SNP GNAT1 NM_000172 human genbank 54_36p 1 reviewed missense c.139 p.K47Q 1 "superfamily_SSF52540,HMMPfam_G-alpha" "superfamily_SSF52540,HMMPfam_G-alpha,superfamily_Transducn_insert" - no_errors GNAT1 3 50205604 50205604 p.K47K c.141G>A Confirmed HTR3C 170572 broad.mit.edu 36 3 185256761 185256761 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 3 185256761 185256761 G A SNP HTR3C NM_130770 human genbank 54_36p 1 reviewed missense c.382 p.V128M 0.29 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors HTR3C 3 185256761 185256761 p.V128M c.382G>A Confirmed TP63 8626 broad.mit.edu 36 3 191068418 191068418 + Missense_Mutation SNP A A C novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 3 191068418 191068418 A C SNP TP63 NM_003722 human genbank 54_36p 1 reviewed missense c.985 p.T329P 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "HMMSmart_SM00454,PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,HMMPfam_P53" - no_errors TP63 3 191068415 191068415 p.E328* c.982G>T Confirmed MTTP 4547 broad.mit.edu 36 4 100746944 100746944 + Missense_Mutation SNP A A G novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 100746944 100746944 A G SNP MTTP NM_000253 human genbank 54_36p 1 reviewed missense c.1361 p.K454R 1 "HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_LV_superhelical" "superfamily_Lipid_transp_b-sht_shell,HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_LV_superhelical" - no_errors MTTP 4 100746945 100746945 p.K454K c.1362G>A Confirmed APC 324 broad.mit.edu 36 5 112203476 112203476 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 112203476 112203476 A G SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.4286 p.Q1429R 1 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors APC 5 112203476 112203476 p.T1430fs*43 c.4286delA Confirmed APC 324 broad.mit.edu 36 5 112204836 112204836 + Missense_Mutation SNP A A T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 5 112204836 112204836 A T SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.5646 p.R1882S 1 NULL "HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat" - no_errors APC 5 112144417 112144424 p.Q188fs*2 c.563_570delAATTGGAA Confirmed ARAP3 64411 broad.mit.edu 36 5 141032024 141032024 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 5 141032024 141032024 G A SNP ARAP3 NM_022481 human genbank 54_36p -1 reviewed nonsense c.1414 p.Q472* 1 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" "HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP,HMMPfam_RA" - no_errors ARAP3 5 141032027 141032027 p.R471W c.1411C>T Confirmed BAI3 577 broad.mit.edu 36 6 70127958 70127958 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 6 70127958 70127958 C A SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.4072 p.Q1358K 1 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors BAI3 6 70127963 70127963 p.F1359F c.4077C>T Confirmed EPHA7 2045 broad.mit.edu 36 6 94177155 94177155 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture;Sequenom Illumina GAIIx 6 94177155 94177155 C A SNP EPHA7 NM_004440 human genbank 54_36p -1 reviewed missense c.617 p.W206L 1 PatternScan_RECEPTOR_TYR_KIN_V_1 ############################################################################################################################################################################################################################################################### - no_errors EPHA7 6 94177152 94177152 p.S207F c.620C>T Confirmed EGFR 1956 broad.mit.edu 36 7 55209193 55209193 + Missense_Mutation SNP A A G novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 7 55209193 55209193 A G SNP EGFR NM_005228 human genbank 54_36p 1 reviewed missense c.2147 p.K716R 1 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors EGFR 7 55209190 55209190 p.I715S c.2144T>G Unknown CALCR 799 broad.mit.edu 36 7 92946683 92946683 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 92946683 92946683 C T SNP CALCR NM_001742 human genbank 54_36p -1 validated missense c.124 p.V42I 0 superfamily_SSF111418 "HMMPfam_7tm_2,HMMPfam_HRM,HMMSmart_HormR,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_SSF111418,superfamily_SSF81321" - no_errors CALCR 7 92946684 92946684 p.Y41* c.123C>G Confirmed SPAM1 6677 broad.mit.edu 36 7 123380877 123380877 + Missense_Mutation SNP T T G novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W T T G G T T Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 7 123380877 123380877 T G SNP SPAM1 NM_003117 human genbank 54_36p 1 reviewed missense c.17 p.F6C 0 NULL "HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat" - no_errors SPAM1 p.K5Q c.13A>C Confirmed BRAF 673 broad.mit.edu 36 7 140099662 140099662 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 140099662 140099662 T C SNP BRAF NM_004333 human genbank 54_36p -1 reviewed missense c.1742 p.N581S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" ############################################################################################################################################################################################################################################################### - no_errors BRAF 7 140099662 140099662 p.N581S c.1742A>G Confirmed TRPV5 56302 broad.mit.edu 36 7 142332804 142332804 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 142332804 142332804 C A SNP TRPV5 NM_019841 human genbank 54_36p -1 reviewed missense c.1064 p.R355L 0.1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors TRPV5 7 142332804 142332804 p.R355H c.1064G>A Confirmed ROR2 4920 broad.mit.edu 36 9 93526859 93526859 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 9 93526859 93526859 C A SNP ROR2 NM_004560 human genbank 54_36p -1 reviewed missense c.1738 p.D580Y 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_Fz,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR" - no_errors ROR2 9 93526856 93526856 p.R581G c.1741C>G Confirmed NOTCH1 4851 broad.mit.edu 36 9 138511033 138511033 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 138511033 138511033 G A SNP NOTCH1 NM_017617 human genbank 54_36p -1 reviewed missense c.6979 p.R2327W 0.99 NULL ############################################################################################################################################################################################################################################################### - no_errors NOTCH1 9 138511033 138511033 p.R2328W c.6982C>T Confirmed PRKG1 5592 broad.mit.edu 36 10 53492301 53492301 + Splice_Site SNP A A T novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 10 53492301 53492301 A T SNP PRKG1 NM_006258 human genbank 54_36p 1 validated splice_site c.841-2 e7-2 0.99 - - - no_errors PRKG1 10 53484327 53484327 p.T280T c.840G>A Confirmed PTEN 5728 broad.mit.edu 36 10 89707652 89707652 + Frame_Shift_Del DEL C - - novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 89707652 89707652 C - DEL PTEN NM_000314 human genbank 54_36p 1 reviewed frame_shift_del c.697 p.R233fs 1 "HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "(deletion:cds_exon[89707590,89707756])" no_errors PTEN 10 89707652 89707652 p.R233* c.697C>T Confirmed ACCS 84680 broad.mit.edu 36 11 44055977 44055977 + Missense_Mutation SNP G G C novel Unknown TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 44055977 44055977 G C SNP ACCS NM_032592 human genbank 54_36p 1 validated missense c.661 p.G221R 0.66 "superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_1_2" "PatternScan_AA_TRANSFER_CLASS_1,superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Aminotran_1_2" - no_errors ACCS 11 44055978 44055978 p.G221E c.662G>A Confirmed OR5J2 282775 broad.mit.edu 36 11 55701170 55701170 + Silent SNP C C G novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 55701170 55701170 C G SNP OR5J2 NM_001005492 human genbank 54_36p 1 provisional silent c.501 p.S167 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5J2 11 55701170 55701170 p.S167S c.501C>G Confirmed CASP5 838 broad.mit.edu 36 11 104383020 104383020 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 11 104383020 104383020 G A SNP CASP5 NM_004347 human genbank 54_36p -1 reviewed missense c.385 p.P129S 0.07 "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD" "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,superfamily_SSF52129,HMMSmart_CASc,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors CASP5 11 104379318 104379318 p.L130V c.388C>G Confirmed KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 25289551 25289551 C A SNP KRAS NM_033360 human genbank 54_36p -1 reviewed missense c.35 p.G12V 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors KRAS 12 25289551 25289551 p.G12D c.35G>A Previously Observed CDK17 5128 broad.mit.edu 36 12 95212971 95212971 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 12 95212971 95212971 G C SNP PCTK2 NM_002595 human genbank 54_36p -1 reviewed missense c.934 p.R312G 1 "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors CDK17 12 95212971 95212971 p.R312G c.934C>G Confirmed JAK3 3718 broad.mit.edu 36 19 17811423 17811423 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 17811423 17811423 G A SNP JAK3 NM_000215 human genbank 54_36p -1 reviewed missense c.1304 p.T435I 0 "superfamily_SH2 domain,HMMSmart_SM00252" "HMMSmart_SM00295,superfamily_SH2 domain,HMMSmart_SM00252,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_THIOL_PROTEASE_HIS,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors JAK3 19 17811426 17811426 p.P434R c.1301C>G Unknown DYRK1B 9149 broad.mit.edu 36 19 45013011 45013011 + Missense_Mutation SNP C C G novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 45013011 45013011 C G SNP DYRK1B NM_004714 human genbank 54_36p -1 reviewed missense c.216 p.Q72H 1 NULL "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors DYRK1B 19 45013014 45013014 p.A71A c.213C>T Confirmed GSK3A 2931 broad.mit.edu 36 19 47428573 47428573 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 19 47428573 47428573 G C SNP GSK3A NM_019884 human genbank 54_36p -1 validated missense c.1200 p.H400Q 1 "HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase" "HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors GSK3A 19 47428574 47428574 p.H400R c.1199A>G Confirmed PPP2R1A 5518 broad.mit.edu 36 19 57407794 57407794 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 19 57407794 57407794 C T SNP PPP2R1A NM_014225 human genbank 54_36p 1 reviewed missense c.547 p.R183W 1 "HMMPfam_HEAT,superfamily_ARM repeat" "HMMPfam_HEAT,superfamily_ARM repeat" - no_errors PPP2R1A 19 57407794 57407794 p.R183G c.547C>G Previously Observed PIWIL3 440822 broad.mit.edu 36 22 23445513 23445513 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 22 23445513 23445513 G C SNP PIWIL3 NM_001008496 human genbank 54_36p -1 validated missense c.2575 p.L859V 1 "superfamily_RNaseH_fold,HMMPfam_Piwi" "superfamily_SSF101690,HMMPfam_PAZ,superfamily_RNaseH_fold,HMMPfam_Piwi" - no_errors PIWIL3 22 23445509 23445509 p.A860V c.2579C>T Confirmed ARMCX3 51566 broad.mit.edu 36 X 100767422 100767422 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx X 100767422 100767422 T A SNP ARMCX3 NM_016607 human genbank 54_36p 1 reviewed missense c.797 p.L266H 1 "HMMPfam_DUF634,superfamily_ARM-type_fold" "HMMPfam_DUF634,superfamily_ARM-type_fold" - no_errors ARMCX3 23 100767424 100767424 p.L267F c.799C>T Confirmed RB1 5925 genome.wustl.edu 36 13 47853541 47853556 + Frame_Shift_Del DEL ATGTGAACATCGAATC ATGTGAACATCGAATC - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 ATGTGAACATCGAATC ATGTGAACATCGAATC ATGTGAACATCGAATC - ATGTGAACATCGAATC ATGTGAACATCGAATC Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 47853541 47853556 ATGTGAACATCGAATC - DEL RB1 NM_000321 human genbank 54_36p 1 reviewed frame_shift_del c.1656_1671 p.C553fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000 "HMMPfam_RB_A,superfamily_Cyclin-like" "HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C" "(deletion:cds_exon[47853384,47853580])" no_errors RB1 13 47853551 47853551 p.R556* c.1666C>T Confirmed RB1 5925 genome.wustl.edu 36 13 47931968 47931968 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47931968 47931968 C A SNP RB1 NM_000321 human genbank 54_36p 1 reviewed missense c.2104 p.Q702K 1 "HMMPfam_RB_B,HMMSmart_SM00385,superfamily_Cyclin-like" "HMMPfam_RB_B,HMMPfam_RB_A,HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Rb_C" - no_errors RB1 13 47931968 47931968 p.Q702* c.2104C>T Confirmed RB1 5925 genome.wustl.edu 36 13 47937375 47937375 + Nonsense_Mutation SNP C T T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47937375 47937375 C T SNP RB1 NM_000321 human genbank 54_36p 1 reviewed nonsense c.2359 p.R787* 1 HMMPfam_Rb_C "HMMPfam_RB_B,HMMPfam_RB_A,HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Rb_C" - no_errors RB1 13 47937375 47937375 p.R787* c.2359C>T Previously Observed RB1 5925 genome.wustl.edu 36 13 47937406 47937422 + Frame_Shift_Del DEL TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG - TACGGATTCCTGGAGGG TACGGATTCCTGGAGGG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47937406 47937422 TACGGATTCCTGGAGGG - DEL RB1 NM_000321 human genbank 54_36p 1 reviewed frame_shift_del c.2390_2406 p.L797fs 0.997:0.978:1.000:1.000:0.968:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.958:0.443:0.994:1.000:0.997 HMMPfam_Rb_C "HMMPfam_RB_B,HMMPfam_RB_A,HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Rb_C" "(deletion:cds_exon[47937342,47937505])" no_errors RB1 13 47937408 47937408 p.R798W c.2392C>T Unknown NF1 4763 genome.wustl.edu 36 17 26510201 26510219 + Frame_Shift_Del DEL GATTATATTGGATACACTG GATTATATTGGATACACTG - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 GATTATATTGGATACACTG GATTATATTGGATACACTG GATTATATTGGATACACTG - GATTATATTGGATACACTG GATTATATTGGATACACTG Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 26510201 26510219 GATTATATTGGATACACTG - DEL NF1 NM_001042492 human genbank 54_36p 1 reviewed frame_shift_del c.252_270 p.I85fs 1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL "HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516" "(deletion:cds_exon[26510154,26510237])" no_errors NF1 17 26510220 26510220 p.E91K c.271G>A Confirmed NF1 4763 genome.wustl.edu 36 17 26686014 26686032 + Frame_Shift_Del DEL ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA - novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA - ATGACTCCATGGCTGTCAA ATGACTCCATGGCTGTCAA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 26686014 26686032 ATGACTCCATGGCTGTCAA - DEL NF1 NM_001042492 human genbank 54_36p 1 reviewed frame_shift_del c.5845_5863 p.M1949fs 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.993:0.953:1.000 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" "(deletion:cds_exon[26685982,26686175])" no_errors NF1 17 26686020 26686020 p.P1951fs*6 c.5851delC Confirmed TP53 7157 genome.wustl.edu 36 17 7514728 7514728 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7514728 7514728 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1024 p.R342* 0.4 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 17 7514728 7514728 p.R342* c.1024C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7514728 7514728 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7514728 7514728 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1024 p.R342* 0.4 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7514728 7514728 p.R342* c.1024C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7514755 7514755 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7514755 7514755 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.997 p.R333fs 0.03 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7514652,7514758])" no_errors TP53 17 7514758 7514758 p.I332V c.994A>G Unknown TP53 7157 genome.wustl.edu 36 17 7514759 7514759 + Splice_Site SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7514759 7514759 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.994-1 e9-1 1 - - - no_errors TP53 17 7514759 7514759 p.? c.994-1G>C Unknown TP53 7157 genome.wustl.edu 36 17 7517577 7517577 + Splice_Site SNP C C G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C Verified Unknown Somatic Phase_III PCR Sanger_PCR_WGA dbGAP ABI 3730xl 17 7517577 7517577 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 17 7517577 7517577 p.? c.993+1G>A Unknown TP53 7157 genome.wustl.edu 36 17 7517583 7517583 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517583 7517583 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.988 p.L330fs 1 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517578,7517651])" no_errors TP53 17 7517584 7517584 p.T329T c.987C>A Unknown TP53 7157 genome.wustl.edu 36 17 7517743 7517743 + Splice_Site SNP C T T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517743 7517743 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.919+1 e7+1 1 - - - no_errors TP53 17 7517743 7517743 p.? c.919+1G>T Unknown TP53 7157 genome.wustl.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517747 7517747 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.916 p.R306* 1 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517747 7517747 p.R306* c.916C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517747 7517747 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.916 p.R306* 1 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517747 7517747 p.R306* c.916C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G A A rs28934574 Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517819 7517819 p.R282W c.844C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517819 7517819 p.R282W c.844C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7517824 7517824 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517824 7517824 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.839 p.R280I 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517824 7517824 p.R280K c.839G>A Unknown TP53 7157 genome.wustl.edu 36 17 7517833 7517833 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517833 7517833 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.830 p.C277F 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517833 7517833 p.C277F c.830G>T Unknown TP53 7157 genome.wustl.edu 36 17 7517837 7517837 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517837 7517837 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.826 p.A276P 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517837 7517837 p.A276T c.826G>A Unknown TP53 7157 genome.wustl.edu 36 17 7517839 7517839 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517839 7517839 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.824 p.C275Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517839 7517839 p.C275F c.824G>T Unknown TP53 7157 genome.wustl.edu 36 17 7517839 7517839 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517839 7517839 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.824 p.C275Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517839 7517839 p.C275F c.824G>T Unknown TP53 7157 genome.wustl.edu 36 17 7517842 7517842 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517842 7517842 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.821 p.V274D 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517842 7517842 p.V274A c.821T>C Unknown TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C A A rs28934576 Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273L 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517846 7517846 p.R273C c.817C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_III Capture "454_PCR_WGA,Sanger_PCR_WGA" dbGAP Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517846 7517846 p.R273C c.817C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7517849 7517849 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C - C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517849 7517849 C - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.814 p.V272fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880])" no_errors TP53 17 7517849 7517849 p.V272fs*73 c.814delG Unknown TP53 7157 genome.wustl.edu 36 17 7517853 7517853 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517853 7517853 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.810 p.F270L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517853 7517853 p.F270L c.810T>A Unknown TP53 7157 genome.wustl.edu 36 17 7517867 7517867 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517867 7517867 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.796 p.G266R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517867 7517867 p.G266R c.796G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7517869 7517869 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 17 7517869 7517869 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.794 p.L265P 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517869 7517869 p.L265P c.794T>C Unknown TP53 7157 genome.wustl.edu 36 17 7517871 7517872 + In_Frame_Ins INS - - AGATTACCACTACTC novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 - - - AGATTACCACTACTC - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517871 7517872 - AGATTACCACTACTC INS TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_ins c.792_791 p.265in_frame_insSSGNL 0.348:0.418 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517871 7517870 p.L265fs*81 c.792_793insNN Unknown TP53 7157 genome.wustl.edu 36 17 7518223 7518223 + Splice_Site SNP C T T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518223 7518223 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.782+1 e6+1 1 - - - no_errors TP53 17 7518223 7518223 p.? c.782+1G>T Unknown TP53 7157 genome.wustl.edu 36 17 7518226 7518226 + Frame_Shift_Del DEL G G - novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G - G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518226 7518226 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.780 p.S261fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 17 7518226 7518226 p.S261fs*84 c.780delC Unknown TP53 7157 genome.wustl.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518264 7518264 p.R248W c.742C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518264 7518264 p.R248W c.742C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518272 7518272 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245V 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518272 7518272 p.G245D c.734G>A Unknown TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518272 7518272 p.G245D c.734G>A Unknown TP53 7157 genome.wustl.edu 36 17 7518284 7518284 + Missense_Mutation SNP G A A rs28934573 Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518284 7518284 p.S241F c.722C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7518290 7518290 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518290 7518290 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.716 p.N239S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518290 7518290 p.N239S c.716A>G Unknown TP53 7157 genome.wustl.edu 36 17 7518295 7518295 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518295 7518295 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.711 p.M237I 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518295 7518295 p.M237I c.711G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7518299 7518299 + Missense_Mutation SNP T C C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518299 7518299 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.707 p.Y236C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518299 7518299 p.Y236C c.707A>G Unknown TP53 7157 genome.wustl.edu 36 17 7518305 7518305 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518305 7518305 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.701 p.Y234C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518305 7518305 p.Y234C c.701A>G Previously Observed TP53 7157 genome.wustl.edu 36 17 7518305 7518305 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518305 7518305 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.701 p.Y234C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518305 7518305 p.Y234C c.701A>G Previously Observed TP53 7157 genome.wustl.edu 36 17 7518324 7518325 + Frame_Shift_Ins INS - - A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 - - - A - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518324 7518325 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.682_681 p.D227fs 0.998:0.801 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518324 7518324 p.D228Y c.682G>T Unknown TP53 7157 genome.wustl.edu 36 17 7518334 7518334 + Splice_Site SNP C T T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518334 7518334 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.673-1 e6-1 0.99 - - - no_errors TP53 17 7518334 7518334 p.? c.673-1G>A Unknown TP53 7157 genome.wustl.edu 36 17 7518928 7518928 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518928 7518928 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.646 p.V216M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518928 7518928 p.V216M c.646G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7518929 7518929 + Missense_Mutation SNP A T T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518929 7518929 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.645 p.S215R 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518929 7518929 p.S215R c.645T>A Unknown TP53 7157 genome.wustl.edu 36 17 7518937 7518937 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518937 7518937 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.637 p.R213* 0.38 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518937 7518937 p.R213* c.637C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7518945 7518949 + Frame_Shift_Del DEL TTTCT TTTCT - novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 TTTCT TTTCT TTTCT - TTTCT TTTCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518945 7518949 TTTCT - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.629_625 p.R209fs 0.000:0.000:0.000:0.000:0.003 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 17 7518945 7518945 p.N210S c.629A>G Unknown TP53 7157 genome.wustl.edu 36 17 7518960 7518960 + Missense_Mutation SNP T C C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518960 7518960 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.614 p.Y205C 0.97 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518960 7518960 p.Y205C c.614A>G Unknown TP53 7157 genome.wustl.edu 36 17 7518960 7518960 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 T T T C T T Verified Valid Somatic Phase_III PCR 454_PCR_WGA dbGAP ABI 3730xl 17 7518960 7518960 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.614 p.Y205C 0.97 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518960 7518960 p.Y205C c.614A>G Unknown TP53 7157 genome.wustl.edu 36 17 7518982 7518982 + Nonsense_Mutation SNP C A A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518982 7518982 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.592 p.E198* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518982 7518982 p.E198* c.592G>T Unknown TP53 7157 genome.wustl.edu 36 17 7518988 7518988 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518988 7518988 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.586 p.R196* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518988 7518988 p.R196* c.586C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518990 7518990 p.I195T c.584T>C Previously Observed TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518990 7518990 p.I195T c.584T>C Previously Observed TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518990 7518990 p.I195T c.584T>C Previously Observed TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518990 7518990 p.I195T c.584T>C Previously Observed TP53 7157 genome.wustl.edu 36 17 7518990 7518990 + Missense_Mutation SNP A T T novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518990 7518990 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518990 7518990 p.I195T c.584T>C Previously Observed TP53 7157 genome.wustl.edu 36 17 7518996 7518996 + Missense_Mutation SNP T C C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518996 7518996 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.578 p.H193R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518996 7518996 p.H193R c.578A>G Previously Observed TP53 7157 genome.wustl.edu 36 17 7518997 7518997 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518997 7518997 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.577 p.H193Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518997 7518997 p.H193Y c.577C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7519015 7519015 + Splice_Site SNP C G G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519015 7519015 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.560-1 e5-1 0.38 - - - no_errors TP53 17 7519015 7519015 p.? c.560-1G>A Unknown TP53 7157 genome.wustl.edu 36 17 7519113 7519113 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519113 7519113 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.542 p.R181P 0.97 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519113 7519113 p.R181L c.542G>T Unknown TP53 7157 genome.wustl.edu 36 17 7519119 7519119 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519119 7519119 p.H179R c.536A>G Previously Observed TP53 7157 genome.wustl.edu 36 17 7519125 7519125 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519125 7519125 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.530 p.P177R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519125 7519125 p.P177L c.530C>T Unknown TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519128 7519128 p.C176Y c.527G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519128 7519128 p.C176Y c.527G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7519156 7519157 + Frame_Shift_Ins INS - - T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 - - - T - - Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519156 7519157 - T INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.499_498 p.Q166fs 0.998:0.836 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519156 7519154 p.Q167del c.499_501delCAG Unknown TP53 7157 genome.wustl.edu 36 17 7519165 7519165 + Missense_Mutation SNP T C C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519165 7519165 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.490 p.K164E 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519165 7519165 p.K164* c.490A>T Unknown TP53 7157 genome.wustl.edu 36 17 7519179 7519179 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519179 7519179 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.476 p.A159V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519179 7519179 p.A159V c.476C>T Unknown TP53 7157 genome.wustl.edu 36 17 7519186 7519186 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519186 7519186 p.V157F c.469G>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7519188 7519188 + Missense_Mutation SNP C G G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519188 7519188 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.467 p.R156P 0.01 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519188 7519188 p.R156H c.467G>A Unknown TP53 7157 genome.wustl.edu 36 17 7519195 7519225 + Frame_Shift_Del DEL CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG - novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG - CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519195 7519225 CGGGCGGGGGTGTGGAATCAACCCACAGCTG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.460_430 p.Q144fs 0.496:0.001:0.001:0.001:0.001:0.996:0.998:0.906:0.998:0.997:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.014:0.987:0.994:0.947:0.886:0.843:0.860:0.979:0.970:0.987:0.998:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 17 7519195 7519187 p.G154_R156delGTR c.460_468delGGCACCCGC Unknown TP53 7157 genome.wustl.edu 36 17 7519204 7519204 + Missense_Mutation SNP G G A rs28934874 Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519204 7519204 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.451 p.P151S 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519204 7519204 p.P151S c.451C>T Unknown TP53 7157 genome.wustl.edu 36 17 7519217 7519217 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519217 7519217 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.438 p.W146* 0.95 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519217 7519217 p.W146* c.438G>A Unknown TP53 7157 genome.wustl.edu 36 17 7519230 7519236 + Frame_Shift_Del DEL GGGCAGG GGGCAGG - novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 GGGCAGG GGGCAGG GGGCAGG - GGGCAGG GGGCAGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519230 7519236 GGGCAGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.425_419 p.T140fs 0.999:1.000:1.000:1.000:1.000:0.996:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 17 7519230 7519230 p.P142H c.425C>A Unknown TP53 7157 genome.wustl.edu 36 17 7519251 7519251 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519251 7519251 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.404 p.C135Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519251 7519251 p.C135Y c.404G>A Previously Observed TP53 7157 genome.wustl.edu 36 17 7519259 7519259 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519259 7519259 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.396 p.K132N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519259 7519259 p.K132N c.396G>T Unknown TP53 7157 genome.wustl.edu 36 17 7519260 7519260 + Missense_Mutation SNP T A A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519260 7519260 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.395 p.K132M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519260 7519260 p.K132R c.395A>G Unknown TP53 7157 genome.wustl.edu 36 17 7519280 7519280 + Splice_Site SNP C C A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519280 7519280 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1 - - - no_errors TP53 17 7519280 7519280 p.? c.376-1G>A Unknown TP53 7157 genome.wustl.edu 36 17 7520036 7520036 + Splice_Site SNP C A A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520036 7520036 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.375+1 e3+1 1 - - - no_errors TP53 17 7520036 7520036 p.? c.375+1G>A Unknown TP53 7157 genome.wustl.edu 36 17 7520037 7520037 + Silent SNP C C A rs55863639 Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520037 7520037 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed silent c.375 p.T125 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520037 7520037 p.T125T c.375G>T TP53 7157 genome.wustl.edu 36 17 7520114 7520114 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520114 7520114 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.298 p.Q100* 0.6 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520114 7520114 p.Q100* c.298C>T Unknown TP53 7157 genome.wustl.edu 36 17 7520317 7520317 + Splice_Site SNP T T A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520317 7520317 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.97-2 e3-2 0.19 - - - no_errors TP53 17 7520317 7520317 p.? c.97-2A>T Unknown FAM171B 165215 genome.wustl.edu 36 2 187335599 187335599 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 187335599 187335599 A C SNP FAM171B NM_177454 human genbank 54_36p 1 validated missense c.2285 p.H762P 1 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors FAM171B 2 187335598 187335598 p.H762D c.2284C>G Confirmed RB1 5925 hgsc.bcm.edu 36 13 47835024 47835024 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C C C C C Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 13 47835024 47835024 C T SNP RB1 NM_000321 human genbank 54_36p 1 reviewed missense c.791 p.A264V 1 NULL "HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C" - no_errors RB1 13 47835026 47835026 p.K265* c.793A>T Unknown RB1 5925 hgsc.bcm.edu 36 13 47849054 47849054 + Splice_Site SNP G G C novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 G G G C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 13 47849054 47849054 G C SNP RB1 NM_000321 human genbank 54_36p 1 reviewed splice_site c.1216-1 e13-1 1 - - - no_errors RB1 13 47849054 47849054 p.? c.1216-1G>A Unknown RB1 5925 hgsc.bcm.edu 36 13 47928388 47928388 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 G G G G G G Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 13 47928388 47928388 G C SNP RB1 NM_000321 human genbank 54_36p 1 reviewed missense c.1862 p.R621P 1 NULL "HMMPfam_RB_B,HMMPfam_RB_A,HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Rb_C" - no_errors RB1 13 47928387 47928387 p.R621S c.1861C>A Unknown BRCA1 672 hgsc.bcm.edu 36 17 38451310 38451310 + Nonsense_Mutation SNP G G A rs41293465 Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 38451310 38451310 G A SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed nonsense c.5503 p.R1835* 0.99 "HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain" - no_errors BRCA1 p.R1835* c.? Confirmed TP53 7157 hgsc.bcm.edu 36 17 7514743 7514743 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7514743 7514743 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.1009 p.R337C 0.47 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 17 7514743 7514743 p.R337C c.1009C>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7517577 7517577 + Splice_Site SNP C C A rs11575997 Unknown TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517577 7517577 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 17 7517577 7517577 p.? c.993+1G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7517577 7517577 + Splice_Site SNP C C T novel Unknown TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517577 7517577 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 17 7517577 7517577 p.? c.993+1G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7517652 7517652 + Splice_Site SNP C C T novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517652 7517652 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.920-1 e8-1 0.97 - - - no_errors TP53 17 7517652 7517652 p.? c.920-1G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517652 7517652 + Splice_Site SNP C C T novel Unknown TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 C C T T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517652 7517652 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.920-1 e8-1 0.97 - - - no_errors TP53 17 7517652 7517652 p.? c.920-1G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517783 7517783 + Nonsense_Mutation SNP C C A novel Unknown TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517783 7517783 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.880 p.E294* 0.01 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517783 7517783 p.E294* c.880G>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7517818 7517818 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 C C C C C C Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517818 7517818 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.845 p.R282P 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517818 7517818 p.R282Q c.845G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7517818 7517819 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 - - - G - - Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517818 7517819 - G INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.845_844 p.R282fs 0.996:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517818 7517818 p.R282Q c.845G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517819 7517819 p.R282W c.844C>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517819 7517819 p.R282W c.844C>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517819 7517819 p.R282W c.844C>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517821 7517821 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517821 7517821 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.842 p.D281G 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517821 7517821 p.D281A c.842A>C Confirmed TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517846 7517846 p.R273C c.817C>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517846 7517846 p.R273C c.817C>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518231 7518231 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518231 7518231 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.775 p.D259Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518231 7518231 p.D259Y c.775G>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7518231 7518231 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518231 7518231 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.775 p.D259Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518231 7518231 p.D259Y c.775G>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7518257 7518257 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518257 7518257 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.749 p.P250L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518257 7518257 p.P250L c.749C>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 byHapMap TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518263 7518264 + Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 - - - G - - Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518263 7518264 - G INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.743_742 p.R248fs 1.000:1.000 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518262 p.R248Q c.743_744GG>AA Unknown TP53 7157 hgsc.bcm.edu 36 17 7518264 7518264 + Missense_Mutation SNP G C C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G C C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518264 7518264 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248G 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518264 7518264 p.R248W c.742C>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518272 7518272 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245V 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518272 7518272 p.G245D c.734G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518273 7518273 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518273 7518273 p.G245S c.733G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518273 7518273 p.G245S c.733G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518273 7518273 p.G245S c.733G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518276 7518276 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518276 7518276 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.730 p.G244C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518276 7518276 p.G244S c.730G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518284 7518284 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241Y 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518284 7518284 p.S241F c.722C>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518291 7518292 + Frame_Shift_Ins INS - - A novel Unknown TCGA-13-0792-01A-01W-0370-10 TCGA-13-0792-10A-01W-0370-10 - - - A - - Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518291 7518292 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.715_714 p.N238fs 1.000:0.999 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518291 7518291 p.N239D c.715A>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7518299 7518299 + Missense_Mutation SNP T T C novel Unknown TCGA-57-1582-01A-01W-0615-10 TCGA-57-1582-11A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518299 7518299 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.707 p.Y236C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518299 7518299 p.Y236C c.707A>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7518319 7518320 + Frame_Shift_Del DEL AC AC - novel Unknown TCGA-57-1583-01A-01W-0615-10 TCGA-57-1583-11A-01W-0615-10 AC AC AC - AC AC Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518319 7518320 AC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.687_686 p.C229fs 0.995:0.995 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 17 7518319 7518319 p.C229* c.687T>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7518901 7518901 + Splice_Site SNP C C A novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518901 7518901 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.672+1 e5+1 1 - - - no_errors TP53 17 7518901 7518901 p.? c.672+1G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518927 7518927 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 A A A A A A Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518927 7518927 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.647 p.V216G 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518927 7518927 p.V216E c.647T>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7518928 7518928 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 7518928 7518928 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.646 p.V216M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518928 7518928 p.V216M c.646G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518996 7518996 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 T T C C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518996 7518996 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.578 p.H193R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518996 7518996 p.H193R c.578A>G Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518996 7518996 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518996 7518996 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.578 p.H193R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518996 7518996 p.H193R c.578A>G Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519015 7519015 + Splice_Site SNP C C T novel Unknown TCGA-09-1661-01B-01W-0615-10 TCGA-09-1661-10A-01W-0616-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7519015 7519015 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.560-1 e5-1 0.38 - - - no_errors TP53 17 7519015 7519015 p.? c.560-1G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7519118 7519118 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 A A C C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519118 7519118 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.537 p.H179Q 0.89 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519118 7519118 p.H179Q c.537T>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7519119 7519119 + Missense_Mutation SNP T C C novel Unknown TCGA-04-1350-01A-01W-0490-10 TCGA-04-1350-11A-01W-0490-10 T T C C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519119 7519119 p.H179R c.536A>G Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519123 7519123 + Frame_Shift_Del DEL G G - novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G - G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519123 7519123 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.532 p.H178fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 17 7519123 7519123 p.H178fs*69 c.532delC Unknown TP53 7157 hgsc.bcm.edu 36 17 7519123 7519123 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 G G G G G G Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519123 7519123 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.532 p.H178N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519123 7519123 p.H178N c.532C>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7519128 7519128 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C C C C Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519128 7519128 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176F 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519128 7519128 p.C176Y c.527G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519128 7519128 p.C176Y c.527G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519128 7519128 p.C176Y c.527G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519131 7519131 p.R175H c.524G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519131 7519131 p.R175H c.524G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519138 7519138 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 7519138 7519138 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.517 p.V173L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519138 7519138 p.V173L c.517G>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7519179 7519179 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0720-01A-01W-0370-10 TCGA-13-0720-10B-01W-0370-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519179 7519179 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.476 p.A159V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519179 7519179 p.A159V c.476C>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519186 7519186 p.V157F c.469G>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519186 7519186 p.V157F c.469G>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C A A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519186 7519186 p.V157F c.469G>T Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7519192 7519192 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 T T T T T T Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519192 7519192 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.463 p.T155A 0 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519192 7519192 p.T155A c.463A>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7519252 7519252 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 A A A G A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519252 7519252 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.403 p.C135R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519252 7519252 p.C135R c.403T>C Unknown TP53 7157 hgsc.bcm.edu 36 17 7519255 7519255 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A C C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519255 7519255 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.400 p.F134V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519255 7519255 p.F134V c.400T>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7519260 7519260 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7519260 7519260 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.395 p.K132R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519260 7519260 p.K132R c.395A>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7519275 7519275 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519275 7519275 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.380 p.S127F 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519275 7519275 p.S127F c.380C>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7519280 7519280 + Splice_Site SNP C C A novel Unknown TCGA-09-1666-01A-01W-0615-10 TCGA-09-1666-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7519280 7519280 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1 - - - no_errors TP53 17 7519280 7519280 p.? c.376-1G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7519280 7519280 + Splice_Site SNP C C T novel Unknown TCGA-04-1365-01A-01W-0490-10 TCGA-04-1365-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519280 7519280 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1 - - - no_errors TP53 17 7519280 7519280 p.? c.376-1G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7519280 7519280 + Splice_Site SNP C C T novel Unknown TCGA-25-1324-01A-01W-0490-10 TCGA-25-1324-10A-01W-0490-10 C C T T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519280 7519280 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1 - - - no_errors TP53 17 7519280 7519280 p.? c.376-1G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7519281 7519281 + Splice_Site SNP T C C novel Unknown TCGA-04-1514-01A-01W-0552-10 TCGA-04-1514-10A-01W-0552-10 T T C C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519281 7519281 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-2 e4-2 1 - - - no_errors TP53 17 7519281 7519281 p.? c.376-2A>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7519281 7519281 + Splice_Site SNP T T C novel Unknown TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 T T C C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7519281 7519281 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-2 e4-2 1 - - - no_errors TP53 17 7519281 7519281 p.? c.376-2A>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7520036 7520036 + Splice_Site SNP C C A novel Unknown TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520036 7520036 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.375+1 e3+1 1 - - - no_errors TP53 17 7520036 7520036 p.? c.375+1G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7520042 7520042 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 A A A - A A Unknown Valid Somatic Phase_IV Capture SOLID SOLID 17 7520042 7520042 A - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.370 p.C124fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520042 7520041 p.C124fs*25 c.370_371insN Unknown TP53 7157 hgsc.bcm.edu 36 17 7520086 7520086 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1407-01A-01W-0490-10 TCGA-13-1407-10A-01W-0491-10 A A C C A A Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520086 7520086 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.326 p.F109C 0.36 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520086 7520086 p.F109S c.326T>C Unknown TP53 7157 hgsc.bcm.edu 36 17 7520087 7520088 + Frame_Shift_Ins INS - - ACCGT novel Unknown TCGA-23-1024-01A-02W-0484-10 TCGA-23-1024-10A-01W-0484-10 - - - ACCGT - - Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7520087 7520088 - ACCGT INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.325_324 p.F108fs 0.330:0.183 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520087 7520082 p.F109_R110delFR c.325_330delTTCCGT Unknown TP53 7157 hgsc.bcm.edu 36 17 7520099 7520099 + Missense_Mutation SNP C T T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C T T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7520099 7520099 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.313 p.G105S 0.73 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520099 7520099 p.G105C c.313G>T Confirmed TP53 7157 hgsc.bcm.edu 36 17 7520219 7520219 + Nonsense_Mutation SNP T T A novel Unknown TCGA-04-1517-01A-01W-0615-10 TCGA-04-1517-11A-01W-0615-10 T T A A T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520219 7520219 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.193 p.R65* 0 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520219 7520219 p.R65* c.193A>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7520254 7520254 + Nonsense_Mutation SNP C C T novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520254 7520254 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.158 p.W53* 0.01 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520254 7520254 p.W53* c.158G>A Unknown TP53 7157 hgsc.bcm.edu 36 17 7520261 7520261 + Nonsense_Mutation SNP C C A novel Unknown TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7520261 7520261 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.151 p.E51* 0 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520261 7520261 p.E51* c.151G>T Unknown RB1 5925 broad.mit.edu 36 13 47839649 47839649 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 13 47839649 47839649 C T SNP RB1 NM_000321 human genbank 54_36p 1 reviewed nonsense c.958 p.R320* 1 NULL "HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C" - no_errors RB1 13 47839649 47839649 p.R320* c.958C>T Confirmed TP53 7157 broad.mit.edu 36 17 7514709 7514710 + Frame_Shift_Ins INS - - AGGCCTT novel Unknown TCGA-13-0751-01A-01D TCGA-13-0751-10A-01D - - AGGCCTT AGGCCTT - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7514709 7514710 - AGGCCTT INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.1043_1042 p.L348fs 0.992:0.323 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 17 7514709 7514709 p.L348* c.1043T>A Unknown TP53 7157 broad.mit.edu 36 17 7514720 7514720 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7514720 7514720 C - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.1032 p.N345fs 0.72 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7514652,7514758])" no_errors TP53 17 7514725 7514725 p.E343* c.1027G>T Unknown TP53 7157 broad.mit.edu 36 17 7514728 7514728 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7514728 7514728 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1024 p.R342* 0.4 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 17 7514728 7514728 p.R342* c.1024C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7517577 7517577 + Splice_Site SNP C C T rs11575997 Unknown TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517577 7517577 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 17 7517577 7517577 p.? c.993+1G>A Unknown TP53 7157 broad.mit.edu 36 17 7517577 7517577 + Splice_Site SNP C C A rs11575997 Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517577 7517577 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.993+1 e8+1 0.99 - - - no_errors TP53 17 7517577 7517577 p.? c.993+1G>A Unknown TP53 7157 broad.mit.edu 36 17 7517610 7517610 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-2271-01A-01W-0799-08 TCGA-24-2271-10A-01W-0799-08 T T A A T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517610 7517610 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.961 p.K321* 0.98 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517610 7517610 p.K321* c.961A>T Unknown TP53 7157 broad.mit.edu 36 17 7517622 7517622 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0899-01A-01W TCGA-13-0899-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture,Sequenom" Illumina GAIIx 17 7517622 7517622 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.949 p.Q317* 0.55 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517622 7517622 p.Q317* c.949C>T Unknown TP53 7157 broad.mit.edu 36 17 7517625 7517626 + Frame_Shift_Ins INS - A A novel Unknown TCGA-24-1603-01A-01W TCGA-24-1603-10A-01W - - A A - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7517625 7517626 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.946_945 p.P315fs 0.962:0.964 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517625 7517624 p.Q317fs*19 c.946_947delCC Unknown TP53 7157 broad.mit.edu 36 17 7517744 7517745 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-61-2109-01A-01W-0722-08 TCGA-61-2109-11A-01W-0723-08 CT CT CT - CT CT Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7517744 7517745 CT - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.919_918 p.A307fs 0.998:0.997 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880])" no_errors TP53 17 7517744 7517640 p.A307fs*34 c.919_931del13 Unknown TP53 7157 broad.mit.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G G A novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517747 7517747 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.916 p.R306* 1 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517747 7517747 p.R306* c.916C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7517807 7517807 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Broad454,Capture" Illumina GAIIx 17 7517807 7517807 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.856 p.E286K 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517807 7517807 p.E286K c.856G>A Unknown TP53 7157 broad.mit.edu 36 17 7517813 7517813 + Frame_Shift_Del DEL T - T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T - - T T Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7517813 7517813 T - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.850 p.T284fs 0.04 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880])" no_errors TP53 17 7517813 7517813 p.T284P c.850A>C Unknown TP53 7157 broad.mit.edu 36 17 7517827 7517827 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517827 7517827 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.836 p.G279E 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517827 7517827 p.G279E c.836G>A Unknown TP53 7157 broad.mit.edu 36 17 7517830 7517830 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517830 7517830 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.833 p.P278R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517830 7517830 p.P278R c.833C>G Previously Observed TP53 7157 broad.mit.edu 36 17 7517830 7517830 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1552-01A-01W TCGA-24-1552-10A-01W G G T T G G Unknown Valid Somatic Phase_I Capture "Broad454,Capture" Illumina GAIIx 17 7517830 7517830 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.833 p.P278H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517830 7517830 p.P278R c.833C>G Previously Observed TP53 7157 broad.mit.edu 36 17 7517842 7517842 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517842 7517842 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.821 p.V274G 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517842 7517842 p.V274A c.821T>C Unknown TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C A rs28934576 Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517845 7517845 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273L 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C G rs28934576 Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517845 7517845 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273P 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517846 7517846 p.R273C c.817C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517846 7517846 p.R273C c.817C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517846 7517846 p.R273C c.817C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7517849 7517849 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517849 7517849 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.814 p.V272M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517849 7517849 p.V272M c.814G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7517849 7517849 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517849 7517849 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.814 p.V272M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517849 7517849 p.V272M c.814G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7517852 7517852 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517852 7517852 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.811 p.E271* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517852 7517852 p.E271* c.811G>T Unknown TP53 7157 broad.mit.edu 36 17 7517866 7517866 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517866 7517866 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.797 p.G266V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517866 7517866 p.G266V c.797G>T Unknown TP53 7157 broad.mit.edu 36 17 7517866 7517866 + Missense_Mutation SNP C C A novel Unknown TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517866 7517866 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.797 p.G266V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517866 7517866 p.G266V c.797G>T Unknown TP53 7157 broad.mit.edu 36 17 7517867 7517867 + Missense_Mutation SNP C C T novel Unknown TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517867 7517867 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.796 p.G266R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517867 7517867 p.G266R c.796G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7517871 7517881 + Splice_Site DEL TAGATTACCAC TAGATTACCAC - novel Unknown TCGA-23-1116-01A-01W TCGA-23-1116-10A-01W TAGATTACCAC TAGATTACCAC - - TAGATTACCAC TAGATTACCAC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7517871 7517881 TAGATTACCAC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site_del c.792_783 p.G262fs 0.348:0.418:0.272:0.006:0.011:0.018:0.004:0.996:1.000:0.996 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880], intron[7517881,7518223])" no_errors TP53 17 7517871 7517870 p.L265fs*81 c.792_793insNN Unknown TP53 7157 broad.mit.edu 36 17 7517878 7517878 + Missense_Mutation SNP C C A novel Unknown TCGA-23-2081-01A-01W-0722-08 TCGA-23-2081-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517878 7517878 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.785 p.G262V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517878 7517878 p.G262V c.785G>T Unknown TP53 7157 broad.mit.edu 36 17 7518223 7518223 + Splice_Site SNP C C A novel Unknown TCGA-13-1409-01A-01W TCGA-13-1409-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518223 7518223 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.782+1 e6+1 1 - - - no_errors TP53 17 7518223 7518223 p.? c.782+1G>T Unknown TP53 7157 broad.mit.edu 36 17 7518236 7518236 + Missense_Mutation SNP A A T rs28934577 Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518236 7518236 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.770 p.L257Q 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518236 7518236 p.L257P c.770T>C Unknown TP53 7157 broad.mit.edu 36 17 7518239 7518241 + In_Frame_Del DEL GTG - GTG novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 GTG GTG - - GTG GTG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518239 7518241 GTG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.767_765 p.T256in_frame_del 1.000:1.000:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 17 7518239 7518239 p.T256I c.767C>T Unknown TP53 7157 broad.mit.edu 36 17 7518239 7518247 + In_Frame_Del DEL GTGATGATG GTGATGATG - novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W GTGATGATG GTGATGATG - - GTGATGATG GTGATGATG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518239 7518247 GTGATGATG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.767_759 p.IIT254in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 17 7518239 7518239 p.T256I c.767C>T Unknown TP53 7157 broad.mit.edu 36 17 7518254 7518254 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518254 7518254 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.752 p.I251S 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518254 7518254 p.I251T c.752T>C Unknown TP53 7157 broad.mit.edu 36 17 7518257 7518257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7518257 7518257 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.749 p.P250L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518257 7518257 p.P250L c.749C>T Unknown TP53 7157 broad.mit.edu 36 17 7518261 7518261 + Missense_Mutation SNP T T C rs67185453 Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518261 7518261 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.745 p.R249G 0.99 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518261 7518261 p.R249W c.745A>T Unknown TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518263 7518263 p.R248Q c.743G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518264 7518264 p.R248W c.742C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518264 7518264 p.R248W c.742C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518264 7518264 p.R248W c.742C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518272 7518272 p.G245D c.734G>A Unknown TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C G rs28934575 Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518273 7518273 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245R 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518273 7518273 p.G245S c.733G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518273 7518273 p.G245S c.733G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518275 7518275 + Missense_Mutation SNP C C T rs28934572 Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518275 7518275 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.731 p.G244D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518275 7518275 p.G244D c.731G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518276 7518276 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518276 7518276 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.730 p.G244C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518276 7518276 p.G244S c.730G>A Unknown TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518284 7518284 p.S241F c.722C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518284 7518284 p.S241F c.722C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518284 7518284 p.S241F c.722C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518288 7518296 + In_Frame_Del DEL TGTTACACA TGTTACACA - novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 TGTTACACA TGTTACACA TGTTACACA - TGTTACACA TGTTACACA Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518288 7518296 TGTTACACA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.718_710 p.MCN237in_frame_del 1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 17 7518288 7518288 p.S240G c.718A>G Unknown TP53 7157 broad.mit.edu 36 17 7518291 7518292 + Frame_Shift_Ins INS - A - novel Unknown TCGA-13-0883-01A-02W TCGA-13-0883-10A-01D - - A A - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518291 7518292 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.715_714 p.N238fs 1.000:0.999 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518291 7518291 p.N239D c.715A>G Unknown TP53 7157 broad.mit.edu 36 17 7518293 7518293 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1995-01A-01W-0722-08 TCGA-61-1995-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518293 7518293 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.713 p.C238Y 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518293 7518293 p.C238Y c.713G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518293 7518293 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518293 7518293 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.713 p.C238F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518293 7518293 p.C238Y c.713G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7518296 7518296 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1487-01A-01D TCGA-13-1487-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518296 7518296 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.710 p.M237K 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518296 7518296 p.M237R c.710T>G Unknown TP53 7157 broad.mit.edu 36 17 7518306 7518306 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1484-01A-01W TCGA-13-1484-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518306 7518306 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.700 p.Y234N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518306 7518306 p.Y234N c.700T>A Unknown TP53 7157 broad.mit.edu 36 17 7518311 7518311 + Missense_Mutation SNP A A T novel Unknown TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518311 7518311 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.695 p.I232N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518311 7518311 p.I232N c.695T>A Unknown TP53 7157 broad.mit.edu 36 17 7518901 7518901 + Splice_Site SNP C C T novel Unknown TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 C C C T C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518901 7518901 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.672+1 e5+1 1 - - - no_errors TP53 17 7518901 7518901 p.? c.672+1G>A Unknown TP53 7157 broad.mit.edu 36 17 7518901 7518901 + Splice_Site SNP C C A novel Unknown TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518901 7518901 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.672+1 e5+1 1 - - - no_errors TP53 17 7518901 7518901 p.? c.672+1G>A Unknown TP53 7157 broad.mit.edu 36 17 7518902 7518902 + Silent SNP C C T novel Unknown TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Capture,Sanger_PCR_WGA" Illumina GAIIx 17 7518902 7518902 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed silent c.672 p.E224 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518902 7518902 p.E224D c.672G>C TP53 7157 broad.mit.edu 36 17 7518904 7518905 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-04-1357-01A-01W TCGA-04-1357-11A-01W CA CA - - CA CA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518904 7518905 CA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.670_669 p.E224fs 0.994:0.551 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 17 7518904 7518904 p.E224K c.670G>A Unknown TP53 7157 broad.mit.edu 36 17 7518907 7518908 + Frame_Shift_Del DEL GC GC - novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 GC GC GC - GC GC Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518907 7518908 GC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.667_666 p.P223fs 0.989:0.734 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 17 7518907 7518907 p.P223fs*24 c.667delC Unknown TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture "Broad454,Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7518929 7518929 + Missense_Mutation SNP A A C novel Unknown TCGA-61-1998-01A-01W-0722-08 TCGA-61-1998-10A-01W-0722-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518929 7518929 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.645 p.S215R 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518929 7518929 p.S215R c.645T>A Unknown TP53 7157 broad.mit.edu 36 17 7518933 7518933 + Missense_Mutation SNP T T C novel Unknown TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518933 7518933 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.641 p.H214R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518933 7518933 p.H214R c.641A>G Unknown TP53 7157 broad.mit.edu 36 17 7518951 7518951 + Missense_Mutation SNP T T A novel Unknown TCGA-61-2092-01A-01W-0722-08 TCGA-61-2092-11A-01W-0722-08 T T A A T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518951 7518951 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.623 p.D208V 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518951 7518951 p.D208V c.623A>T Unknown TP53 7157 broad.mit.edu 36 17 7518964 7518964 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518964 7518964 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.610 p.E204* 0.4 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518964 7518964 p.E204* c.610G>T Unknown TP53 7157 broad.mit.edu 36 17 7518964 7518964 + Nonsense_Mutation SNP C C A novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518964 7518964 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.610 p.E204* 0.4 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518964 7518964 p.E204* c.610G>T Unknown TP53 7157 broad.mit.edu 36 17 7518988 7518988 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-2289-01A-01W-0799-08 TCGA-24-2289-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7518988 7518988 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.586 p.R196* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518988 7518988 p.R196* c.586C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518988 7518988 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0916-01A-01W TCGA-13-0916-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518988 7518988 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.586 p.R196* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518988 7518988 p.R196* c.586C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-25-2396-01A-01W-0799-08 TCGA-25-2396-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518990 7518990 p.I195T c.584T>C Previously Observed TP53 7157 broad.mit.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518990 7518990 p.I195T c.584T>C Previously Observed TP53 7157 broad.mit.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A A G A A Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518990 7518990 p.I195T c.584T>C Previously Observed TP53 7157 broad.mit.edu 36 17 7518991 7518991 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1495-01A-01W TCGA-13-1495-10A-01D T T A A T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518991 7518991 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.583 p.I195F 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518991 7518991 p.I195F c.583A>T Unknown TP53 7157 broad.mit.edu 36 17 7518991 7519015 + Splice_Site DEL TAAGATGCTGAGGAGGGGCCAGACC - TAAGATGCTGAGGAGGGGCCAGACC novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 TAAGATGCTGAGGAGGGGCCAGACC TAAGATGCTGAGGAGGGGCCAGACC - - TAAGATGCTGAGGAGGGGCCAGACC TAAGATGCTGAGGAGGGGCCAGACC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518991 7519015 TAAGATGCTGAGGAGGGGCCAGACC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site_del c.583_560 p.G187fs 1.000:0.987:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.998:0.999:0.987:0.923:0.995:0.997:0.888:0.996:0.996:0.816:0.467:0.381:0.265:0.331 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014], intron[7519015,7519095])" no_errors TP53 17 7518991 7518991 p.I195F c.583A>T Unknown TP53 7157 broad.mit.edu 36 17 7518993 7518993 + Missense_Mutation SNP A A C novel Unknown TCGA-30-1891-01A-01W-0699-08 TCGA-30-1891-10A-01W-0699-08 A A A C A A Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518993 7518993 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.581 p.L194R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518993 7518993 p.L194R c.581T>G Unknown TP53 7157 broad.mit.edu 36 17 7518993 7518993 + Missense_Mutation SNP A A C novel Unknown TCGA-25-2401-01A-01W-0799-08 TCGA-25-2401-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518993 7518993 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.581 p.L194R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518993 7518993 p.L194R c.581T>G Unknown TP53 7157 broad.mit.edu 36 17 7519000 7519000 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1474-01A-01W TCGA-24-1474-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519000 7519000 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.574 p.Q192* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519000 7519000 p.Q192* c.574C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7519000 7519002 + In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-1423-01A-01W TCGA-24-1423-10A-01W GAG GAG - - GAG GAG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7519000 7519002 GAG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.574_572 p.P191in_frame_del 1.000:0.998:0.999 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 17 7519000 7519000 p.Q192* c.574C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7519000 7519002 + In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-0975-01B-02W TCGA-24-0975-10B-01W GAG GAG GAG - GAG GAG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519000 7519002 GAG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.574_572 p.P191in_frame_del 1.000:0.998:0.999 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014])" no_errors TP53 17 7519000 7519000 p.Q192* c.574C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7519015 7519015 + Splice_Site SNP C C T novel Unknown TCGA-24-0970-01B-01W TCGA-24-0970-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture,Sequenom" Illumina GAIIx 17 7519015 7519015 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.560-1 e5-1 0.38 - - - no_errors TP53 17 7519015 7519015 p.? c.560-1G>A Unknown TP53 7157 broad.mit.edu 36 17 7519094 7519094 + Splice_Site SNP A A C novel Unknown TCGA-13-0923-01A-01W TCGA-13-0923-10A-01D A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519094 7519094 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+2 e4+2 0.99 - - - no_errors TP53 17 7519094 7519094 p.? c.559+2T>G Unknown TP53 7157 broad.mit.edu 36 17 7519095 7519095 + Splice_Site SNP C C T novel Unknown TCGA-24-2030-01A-01W-0722-08 TCGA-24-2030-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519095 7519095 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+1 e4+1 1 - - - no_errors TP53 17 7519095 7519095 p.? c.559+1G>A Unknown TP53 7157 broad.mit.edu 36 17 7519095 7519095 + Splice_Site SNP C C A novel Unknown TCGA-24-1564-01A-01W TCGA-24-1564-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519095 7519095 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+1 e4+1 1 - - - no_errors TP53 17 7519095 7519095 p.? c.559+1G>A Unknown TP53 7157 broad.mit.edu 36 17 7519095 7519095 + Splice_Site SNP C C A novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519095 7519095 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+1 e4+1 1 - - - no_errors TP53 17 7519095 7519095 p.? c.559+1G>A Unknown TP53 7157 broad.mit.edu 36 17 7519119 7519119 + Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519119 7519119 p.H179R c.536A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7519119 7519119 + Missense_Mutation SNP T T C novel Unknown TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519119 7519119 p.H179R c.536A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519128 7519128 p.C176Y c.527G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519131 7519131 p.R175H c.524G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519131 7519131 p.R175H c.524G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519131 7519131 p.R175H c.524G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519131 7519131 p.R175H c.524G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519131 7519131 p.R175H c.524G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519131 7519131 p.R175H c.524G>A Previously Observed TP53 7157 broad.mit.edu 36 17 7519167 7519167 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0926-01A-01W TCGA-10-0926-11A-01D T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519167 7519167 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.488 p.Y163C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519167 7519167 p.Y163C c.488A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7519167 7519167 + Missense_Mutation SNP T T C novel Unknown TCGA-24-2261-01A-01W-0722-08 TCGA-24-2261-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519167 7519167 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.488 p.Y163C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519167 7519167 p.Y163C c.488A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7519168 7519168 + Missense_Mutation SNP A A T novel Unknown TCGA-61-2104-01A-01W-0722-08 TCGA-61-2104-11A-01W-0723-08 A A T T A A Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7519168 7519168 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.487 p.Y163N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519168 7519168 p.Y163H c.487T>C Unknown TP53 7157 broad.mit.edu 36 17 7519168 7519168 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519168 7519168 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.487 p.Y163H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519168 7519168 p.Y163H c.487T>C Unknown TP53 7157 broad.mit.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519186 7519186 p.V157F c.469G>T Previously Observed TP53 7157 broad.mit.edu 36 17 7519221 7519221 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519221 7519221 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.434 p.L145R 0.98 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519221 7519221 p.L145Q c.434T>A Unknown TP53 7157 broad.mit.edu 36 17 7519221 7519221 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1501-01A-01W TCGA-13-1501-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519221 7519221 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.434 p.L145Q 0.98 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519221 7519221 p.L145Q c.434T>A Unknown TP53 7157 broad.mit.edu 36 17 7519225 7519225 + Nonsense_Mutation SNP G G A novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519225 7519225 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.430 p.Q144* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519225 7519225 p.Q144* c.430C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7519235 7519235 + Frame_Shift_Del DEL G - G novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7519235 7519235 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.420 p.C141fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 17 7519235 7519235 p.T140T c.420C>T Unknown TP53 7157 broad.mit.edu 36 17 7519230 7519244 + In_Frame_Del DEL GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC - novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC - - GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC Unknown Unknown Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519230 7519244 GGGCAGGTCTTGGCC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.425_411 p.AKTCP138in_frame_del 0.999:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:0.985 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 17 7519230 7519230 p.P142H c.425C>A TP53 7157 broad.mit.edu 36 17 7519249 7519249 + Nonsense_Mutation SNP G G A novel Unknown TCGA-10-0931-01A-01W TCGA-10-0931-11A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519249 7519249 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.406 p.Q136* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519249 7519249 p.Q136* c.406C>T Unknown TP53 7157 broad.mit.edu 36 17 7519259 7519259 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519259 7519259 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.396 p.K132N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519259 7519259 p.K132N c.396G>T Unknown TP53 7157 broad.mit.edu 36 17 7519261 7519261 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7519261 7519261 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.394 p.K132E 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519261 7519261 p.K132E c.394A>G Unknown TP53 7157 broad.mit.edu 36 17 7519266 7519267 + Frame_Shift_Ins INS - - GG novel Unknown TCGA-13-1410-01A-01W TCGA-13-1410-10A-01W - - GG GG - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7519266 7519267 - GG INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.389_388 p.L130fs 0.974:0.951 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519266 7519266 p.L130R c.389T>G Unknown TP53 7157 broad.mit.edu 36 17 7519267 7519267 + Missense_Mutation SNP G G C novel Unknown TCGA-61-2094-01A-01W-0722-08 TCGA-61-2094-11A-01W-0722-08 G G C C G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7519267 7519267 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.388 p.L130V 0.95 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519267 7519267 p.L130V c.388C>G Unknown TP53 7157 broad.mit.edu 36 17 7519275 7519275 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2110-01A-01W-0722-08 TCGA-61-2110-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519275 7519275 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.380 p.S127Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519275 7519275 p.S127F c.380C>T Unknown TP53 7157 broad.mit.edu 36 17 7520040 7520040 + Frame_Shift_Del DEL G - G novel Unknown TCGA-25-1320-01A-01W TCGA-25-1320-10A-01W G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520040 7520040 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.372 p.C124fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520040 7520039 p.T125fs*24 c.372_373insN Unknown TP53 7157 broad.mit.edu 36 17 7520060 7520061 + Frame_Shift_Ins INS - C - novel Unknown TCGA-61-2008-01A-02W-0722-08 TCGA-61-2008-11A-01W-0722-08 - - C C - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520060 7520061 - C INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.352_351 p.T117fs 1.000:0.979 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520060 7520060 p.T118A c.352A>G Unknown TP53 7157 broad.mit.edu 36 17 7520087 7520121 + Frame_Shift_Del DEL AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - novel Unknown TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7520087 7520121 AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.325_291 p.Q100fs 0.330:0.183:0.165:0.162:0.166:0.178:0.151:0.019:0.003:0.025:0.345:0.734:0.731:0.078:0.860:0.941:0.999:0.999:0.993:0.668:0.645:0.642:0.600:0.610:0.602:0.560:0.575:0.595:0.590:0.909:0.938:0.944:1.000:1.000:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520087 7520082 p.F109_R110delFR c.325_330delTTCCGT Unknown TP53 7157 broad.mit.edu 36 17 7520099 7520099 + Missense_Mutation SNP C C G novel Unknown TCGA-20-0987-01A-02W TCGA-20-0987-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7520099 7520099 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.313 p.G105R 0.73 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520099 7520099 p.G105C c.313G>T Confirmed TP53 7157 broad.mit.edu 36 17 7520099 7520099 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1494-01A-01W TCGA-13-1494-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7520099 7520099 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.313 p.G105C 0.73 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520099 7520099 p.G105C c.313G>T Confirmed TP53 7157 broad.mit.edu 36 17 7520148 7520157 + Frame_Shift_Del DEL GGCTGGTGCA - - novel Unknown TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 GGCTGGTGCA GGCTGGTGCA - - GGCTGGTGCA GGCTGGTGCA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520148 7520157 GGCTGGTGCA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.264_255 p.A86fs 1.000:1.000:1.000:1.000:1.000:0.984:0.662:0.689:0.520:0.508 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520148 7520147 p.P89fs*60 c.264_265insN Unknown TP53 7157 broad.mit.edu 36 17 7520187 7520187 + Frame_Shift_Del DEL A - - novel Unknown TCGA-13-1505-01A-01D TCGA-13-1505-10A-01D A A - - A A Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520187 7520187 A - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.225 p.A76fs 0.05 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520187 7520188 p.A76fs*73 c.225_226insT Unknown TP53 7157 broad.mit.edu 36 17 7520260 7520261 + Frame_Shift_Ins INS - - C novel Unknown TCGA-25-2391-01A-01W-0799-08 TCGA-25-2391-10A-01W-0799-08 - - - C - - Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520260 7520261 - C INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.152_151 p.E51fs 0.000:0.000 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520261 7520261 p.E51* c.151G>T Unknown TP53 7157 broad.mit.edu 36 17 7520272 7520272 + Frame_Shift_Del DEL G G - novel Unknown TCGA-25-1329-01A-01W TCGA-25-1329-10A-01W G G - - G G Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520272 7520272 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.140 p.P47fs 0 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520272 7520272 p.P47fs*76 c.140delC Unknown TP53 7157 broad.mit.edu 36 17 7520281 7520285 + Frame_Shift_Del DEL ATCAA - ATCAA novel Unknown TCGA-13-0911-01A-01W TCGA-13-0911-10A-01D ATCAA ATCAA - - ATCAA ATCAA Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7520281 7520285 ATCAA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.131_127 p.L43fs 0.067:0.089:0.152:0.176:0.168 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520281 7520281 p.M44T c.131T>C Unknown NF1 4763 broad.mit.edu 36 17 26609644 26609644 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1331-01A-01W TCGA-04-1331-10A-01W A A G G A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 26609644 26609644 A G SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed missense c.4330 p.K1444E 1 "HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP" "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors NF1 17 26609644 26609644 p.K1444E c.4330A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7517625 7517626 + Frame_Shift_Del DEL GA - - novel Unknown TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 GA GA GA - GA GA Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7517625 7517626 GA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.946_945 p.Q317fs 0.962:0.964 NULL "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "(deletion:cds_exon[7517578,7517651])" no_errors TP53 17 7517625 7517624 p.Q317fs*19 c.946_947delCC Unknown TP53 7157 broad.mit.edu 36 17 7517800 7517801 + Frame_Shift_Ins INS - T T novel Unknown TCGA-04-1342-01A-01W TCGA-04-1342-11A-01W - - - T - - Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7517800 7517801 - T INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.863_862 p.N288fs 0.940:0.933 HMMPfam_P53 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517800 7517800 p.N288S c.863A>G Unknown TP53 7157 broad.mit.edu 36 17 7518335 7518335 + Splice_Site SNP T C C novel Unknown TCGA-24-2298-01A-01W-0799-08 TCGA-24-2298-11A-01W-0799-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518335 7518335 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.673-2 e6-2 0.99 - - - no_errors TP53 17 7518335 7518335 p.? c.673-2A>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518915 7518915 p.Y220C c.659A>G Previously Observed TP53 7157 broad.mit.edu 36 17 7518937 7518937 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1510-01A-02D TCGA-13-1510-10A-01W G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518937 7518937 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.637 p.R213* 0.38 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518937 7518937 p.R213* c.637C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7518982 7518982 + Nonsense_Mutation SNP C A A novel Unknown TCGA-23-1027-01A-02W TCGA-23-1027-10A-01W C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518982 7518982 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.592 p.E198* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518982 7518982 p.E198* c.592G>T Unknown TP53 7157 broad.mit.edu 36 17 7519000 7519000 + Nonsense_Mutation SNP G A A novel Unknown TCGA-24-2280-01A-01W-0799-08 TCGA-24-2280-10A-01W-0799-08 G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519000 7519000 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.574 p.Q192* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519000 7519000 p.Q192* c.574C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7519000 7519000 + Nonsense_Mutation SNP G A A novel Unknown TCGA-24-1431-01A-01D TCGA-24-1431-10A-01D G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519000 7519000 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.574 p.Q192* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519000 7519000 p.Q192* c.574C>T Previously Observed TP53 7157 broad.mit.edu 36 17 7519193 7519194 + In_Frame_Ins INS - CCGGGCGGGGGTGTGGAATCAGTG CCGGGCGGGGGTGTGGAATCAGTG novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 - - Unknown Unknown Somatic Phase_I Capture Illumina GAIIx 17 7519193 7519194 - CCGGGCGGGGGTGTGGAATCAGTG INS TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_ins c.462_461 p.156in_frame_insDSTPPPGT 0.001:0.496 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519193 7519193 p.G154G c.462C>T Unknown TP53 7157 broad.mit.edu 36 17 7520032 7520032 + Splice_Region SNP C A A novel Unknown TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7520032 7520032 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_region c.375+5 e3+5 1 - - - no_errors TP53 17 7520041 7520041 p.C124S c.371G>C TP53 7157 genome.wustl.edu 36 17 7517815 7517816 + Frame_Shift_Ins INS - A A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 - - - A - - Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517815 7517816 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.848_847 p.R283fs 0.013:0.012 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517815 7517815 p.R283P c.848G>C Unknown TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7518264 7518264 p.R248W c.742C>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7519195 7519207 + Frame_Shift_Del DEL CGGGCGGGGGTGT - - novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 CGGGCGGGGGTGT CGGGCGGGGGTGT CGGGCGGGGGTGT - CGGGCGGGGGTGT CGGGCGGGGGTGT Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519195 7519207 CGGGCGGGGGTGT - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.460_448 p.T150fs 0.496:0.001:0.001:0.001:0.001:0.996:0.998:0.906:0.998:0.997:0.001:0.001:0.001 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 17 7519195 7519187 p.G154_R156delGTR c.460_468delGGCACCCGC Unknown TP53 7157 genome.wustl.edu 36 17 7520032 7520032 + Splice_Region SNP C G G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7520032 7520032 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_region c.375+5 e3+5 1 - - - no_errors TP53 17 7520041 7520041 p.C124S c.371G>C TP53 7157 hgsc.bcm.edu 36 17 7514743 7514743 + Frame_Shift_Del DEL G - - novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G - G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7514743 7514743 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.1009 p.R337fs 0.47 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7514652,7514758])" no_errors TP53 17 7514743 7514743 p.R337C c.1009C>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7517845 7517845 p.R273H c.818G>A Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7518270 7518275 + In_Frame_Del DEL TGCCGC - - novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 TGCCGC TGCCGC TGCCGC - TGCCGC TGCCGC Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7518270 7518275 TGCCGC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.736_731 p.GGM244in_frame_delV 1.000:1.000:1.000:0.996:0.171:0.996 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 17 7518270 7518270 p.M246V c.736A>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7520083 7520083 + Missense_Mutation SNP C A A rs11540654 byCluster;byHapMap TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7520083 7520083 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.329 p.R110L 0.02 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520083 7520083 p.R110L c.329G>T Unknown TP53 7157 hgsc.bcm.edu 36 17 7520201 7520202 + Frame_Shift_Del DEL GA - - novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 GA GA - - GA GA Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7520201 7520202 GA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.211_210 p.P72fs 0.662:0.662 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520201 7520201 p.R72fs*51 c.211delC Previously Observed TP53 7157 hgsc.bcm.edu 36 17 7520294 7520306 + Frame_Shift_Del DEL TTGCTTGGGACGG - - novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 TTGCTTGGGACGG TTGCTTGGGACGG TTGCTTGGGACGG - TTGCTTGGGACGG TTGCTTGGGACGG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7520294 7520306 TTGCTTGGGACGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.118_106 p.P36fs 0.000:0.000:0.001:0.000:0.000:0.001:0.001:0.002:0.000:0.000:0.000:0.000:0.000 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 17 7520298 7520298 p.A39fs*5 c.114delA Unknown TP53 7157 genome.wustl.edu 36 17 7520228 7520228 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C T T C C Unknown Unknown Somatic Phase_I Capture 1 dbGAP Illumina GAIIx 17 7520228 7520228 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.184 p.E62K 0.02 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520228 7520228 p.E62* c.184G>T Previously Observed TP53 7157 genome.wustl.edu 36 17 7520215 7520216 + Frame_Shift_Ins INS - ATTCTGGG ATTCTGGG novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 - - ATTCTGGG ATTCTGGG - - Unknown Unknown Somatic Phase_I Capture 1 dbGAP Illumina GAIIx 17 7520215 7520216 - ATTCTGGG INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.197_196 p.M66fs 0.005:0.007 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7520215 7520215 p.M66R c.197T>G Unknown TP53 7157 genome.wustl.edu 36 17 7518315 7518346 + Splice_Site DEL TGGTACAGTCAGAGCCAACCTAGGAGATAACA G G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 TGGTACAGTCAGAGCCAACCTAGGAGATAACA TGGTACAGTCAGAGCCAACCTAGGAGATAACA Unknown Unknown Somatic Phase_I Capture 1 dbGAP Illumina GAIIx 17 7518315 7518346 TGGTACAGTCAGAGCCAACCTAGGAGATAAC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site_del c.691_673 p.VGSDCTTIHY225in_frame_delPSTT 1.000:1.000:1.000:1.000:0.995:0.995:0.997:0.984:1.000:0.998:0.801:0.967:0.950:0.950:0.983:0.982:0.590:0.784:0.836 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333], intron[7518334,7518901])" no_errors TP53 17 7518315 7518315 p.T231A c.691A>G Unknown TP53 7157 hgsc.bcm.edu 36 17 7519099 7519099 + Missense_Mutation SNP C T T novel Unknown TCGA-10-0928-01A-02W-0419-10 TCGA-10-0928-11A-01W-0419-10 C C C C C C Unknown None Wildtype Phase_I Capture Sanger_PCR_WGA SOLID 17 7519099 7519099 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.556 p.D186N 0 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 17 7519099 7519099 p.D186N c.556G>A Unknown Mutations with OMIM Hits Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error comment OMIM_gene OMIM_entry OMIM_residue OMIM_aa1 OMIM_aa2 OMIM_disorders KCNQ1 3784 genome.wustl.edu 36 11 2561263 2561263 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 2561263 2561263 A T SNP KCNQ1 NM_000218 human genbank 54_36p 1 reviewed missense c.944 p.Y315F 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors KCNQ1 607542.0012 314 G S "Long QT syndrome-1; Jervell and Lange-Nielsen syndrome; Atrial fibrillation, familial, 3; Short QT syndrome-2; Long QT syndrome 1, acquired, susceptibility to," MS4A2 2206 genome.wustl.edu 36 11 59619683 59619683 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59619683 59619683 T C SNP MS4A2 NM_000139 human genbank 54_36p 1 reviewed missense c.713 p.M238T 0 NULL HMMPfam_CD20 - no_errors MS4A2 147138.0001 237 E G "Atopy, susceptibility to," PAH 5053 genome.wustl.edu 36 12 101812699 101812706 + Frame_Shift_Del DEL CTCAAGAT CTCAAGAT - novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 CTCAAGAT CTCAAGAT CTCAAGAT - CTCAAGAT CTCAAGAT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 101812699 101812706 CTCAAGAT - DEL PAH NM_000277 human genbank 54_36p -1 reviewed frame_shift_del c.296_289 p.I97fs 0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_SSF55021,HMMPfam_ACT" "superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL" "(deletion:cds_exon[101812643,101812826])" no_errors PAH 612349.0053 98 L S "Phenylketonuria; Hyperphenylalaninemia, non-PKU mild," KRAS 3845 genome.wustl.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 25289551 25289551 C A SNP KRAS NM_033360 human genbank 54_36p -1 reviewed missense c.35 p.G12V 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors KRAS 190070.0008 11 G - "Lung cancer; Bladder cancer; Breast cancer, somatic; Pancreatic carcinoma, somatic; Stomach cancer; Leukemia, acute myelogenous; Noonan syndrome 3; Cardiofaciocutaneous syndrome," CHRNA1 1134 genome.wustl.edu 36 2 175326448 175326448 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 2 175326448 175326448 G T SNP CHRNA1 ENST00000409323 human ensembl 54_36p -1 known nonsense c.807 p.C269* 0 NULL "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors CHRNA1 100690.0005 269 S I "Myasthenic syndrome, slow-channel congenital; Myasthenic syndrome, fast-channel congenital; Multiple pterygium syndrome, lethal type," GNAS 2778 genome.wustl.edu 36 20 56913889 56913889 + Nonsense_Mutation SNP C C G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 20 56913889 56913889 C G SNP GNAS NM_001077488 human genbank 54_36p 1 reviewed nonsense c.492 p.Y164* 0.98 "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" - no_errors GNAS 139320.0007 165 C R "Pseudohypoparathyroidism Ia; McCune-Albright syndrome; Pseudohypoparathyroidism Ic; Osseous heteroplasia, progressive; Pseudohypoparathyroidism Ib; Prolonged bleeding time, brachydactyly and mental retardation; Acromegaly; Pseudopseudohypoparathyroidism," CASR 846 genome.wustl.edu 36 3 123458629 123458629 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 123458629 123458629 G A SNP CASR NM_000388 human genbank 54_36p 1 reviewed missense c.197 p.R66H 1 superfamily_Periplasmic binding protein-like I "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors CASR 601199.0026 67 R C "Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy, idiopathic generalized, susceptibility to, 8," SLC2A2 6514 genome.wustl.edu 36 3 172207654 172207654 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 172207654 172207654 C T SNP SLC2A2 NM_000340 human genbank 54_36p -1 reviewed missense c.589 p.V197I 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors SLC2A2 138160.0001 197 V I "Diabetes mellitus, noninsulin-dependent; Fanconi-Bickel syndrome," PIK3CA 5290 genome.wustl.edu 36 3 180418785 180418785 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180418785 180418785 G A SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed missense c.1633 p.E545K 1 "HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold" ############################################################################################################################################################################################################################################################### - no_errors PIK3CA 171834.0008 545 E A "Ovarian cancer, somatic; Breast cancer, somatic; Colorectal cancer, somatic; Gastric cancer, somatic; Hepatocellular carcinoma, somatic; Nonsmall cell lung cancer, somatic; Keratosis, seborrheic, somatic; Nevus, epidermal," PIK3CA 5290 genome.wustl.edu 36 3 180434779 180434779 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 180434779 180434779 A G SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed missense c.3140 p.H1047R 1 "HMMSmart_PI3Kc,superfamily_Kinase_like" ############################################################################################################################################################################################################################################################### - no_errors PIK3CA 171834.0002 1047 H L "Ovarian cancer, somatic; Breast cancer, somatic; Colorectal cancer, somatic; Gastric cancer, somatic; Hepatocellular carcinoma, somatic; Nonsmall cell lung cancer, somatic; Keratosis, seborrheic, somatic; Nevus, epidermal," KLKB1 3818 genome.wustl.edu 36 4 187392185 187392185 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4 187392185 187392185 C A SNP KLKB1 NM_000892 human genbank 54_36p 1 reviewed missense c.307 p.Q103K 1 "HMMSmart_APPLE,PatternScan_APPLE,HMMPfam_PAN_1" "HMMSmart_APPLE,PatternScan_APPLE,HMMPfam_PAN_1,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors KLKB1 229000.0004 104 G R "Fletcher factor deficiency," APC 324 genome.wustl.edu 36 5 112202549 112202549 + Missense_Mutation SNP G G A rs28933379 Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 112202549 112202549 G A SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.3359 p.G1120E 1 NULL "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding" - no_errors APC 611731.0010 1120 G E "Adenomatous polyposis coli; Gastric cancer, somatic; Adenoma, periampullary; Hepatoblastoma; Desmoid disease, hereditary; Gardner syndrome; Brain tumor-polyposis syndrome; Colorectal cancer, somatic," HEXB 3074 genome.wustl.edu 36 5 74050387 74050387 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 74050387 74050387 G C SNP HEXB NM_000521 human genbank 54_36p 1 reviewed missense c.1252 p.G418R 0.98 "HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" "superfamily_beta-N-acetylhexosaminidase-like domain,HMMPfam_Glyco_hydro_20b,HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" - no_errors HEXB 606873.0007 417 P L "Sandhoff disease, infantile, juvenile, and adult forms," PRPH2 5961 genome.wustl.edu 36 6 42780284 42780284 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 42780284 42780284 C T SNP PRPH2 NM_000322 human genbank 54_36p -1 reviewed missense c.625 p.V209I 1 "HMMPfam_Tetraspannin,superfamily_Tetraspanin,PatternScan_RDS_ROM1" "HMMPfam_Tetraspannin,superfamily_Tetraspanin,PatternScan_RDS_ROM1" - no_errors PRPH2 179605.0012 210 P R ############################################################################################################################################################################################################################################################### EFHC1 114327 genome.wustl.edu 36 6 52425561 52425561 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 52425561 52425561 T A SNP EFHC1 NM_018100 human genbank 54_36p 1 validated missense c.690 p.D230E 1 NULL "HMMSmart_SM00676,HMMPfam_DUF1126,superfamily_EF-hand,HMMPfam_efhand" - no_errors EFHC1 608815.0002 229 F L "Myoclonic epilepsy, juvenile, susceptibility to, 1; Epilepsy, juvenile absence, susceptibility to, 1," CFTR 1080 genome.wustl.edu 36 7 116958238 116958238 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 116958238 116958238 C A SNP CFTR NM_000492 human genbank 54_36p 1 reviewed missense c.323 p.S108Y 1 "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors CFTR 602421.0091 109 Y C "Cystic fibrosis; Congenital bilateral absence of vas deferens; Sweat chloride elevation without CF; Pancreatitis, idiopathic; Hypertrypsinemia, neonatal; Bronchiectasis with or without elevated sweat chloride 1, modifier of," BRAF 673 genome.wustl.edu 36 7 140095638 140095638 + Nonsense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 140095638 140095638 G C SNP BRAF NM_004333 human genbank 54_36p -1 reviewed nonsense c.1910 p.S637* 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors BRAF 164757.0021 638 D E "Melanoma, malignant, somatic; Colorectal cancer, somatic; Adenocarcinoma of lung, somatic; Nonsmall cell lung cancer, somatic; Cardiofaciocutaneous syndrome," BTK 695 genome.wustl.edu 36 X 100494971 100494971 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 100494971 100494971 G A SNP BTK NM_000061 human genbank 54_36p -1 reviewed missense c.1775 p.S592F 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" ############################################################################################################################################################################################################################################################### - no_errors BTK 300300.0045 591 Y * "Agammaglobulinemia, type 1, X-linked; Agammaglobulinemia and isolated hormone deficiency," AR 367 genome.wustl.edu 36 X 66854056 66854056 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 66854056 66854056 T A SNP AR NM_000044 human genbank 54_36p 1 reviewed missense c.2185 p.L729I 0.98 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMPfam_Androgen_recep,HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors AR 313700.0013 730 V M "Androgen insensitivity; Spinal and bulbar muscular atrophy of Kennedy; Androgen insensitivity, partial, with or without breast cancer; Prostate cancer, susceptibility to; Hypospadias 1, X-linked," EDA 1896 hgsc.bcm.edu 36 X 68753061 68753061 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0762-01A-01W-0370-10 TCGA-13-0762-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID X 68753061 68753061 C A SNP EDA NM_001399 human genbank 54_36p 1 reviewed missense c.184 p.L62I 1 NULL "HMMPfam_Collagen,superfamily_TNF-like,HMMPfam_TNF" - no_errors EDA 300451.0011 61 Y * "Ectodermal dysplasia, anhidrotic, X-linked; Tooth agenesis, selective, X-linked 1," F8 2157 hgsc.bcm.edu 36 X 153838448 153838448 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID X 153838448 153838448 G T SNP F8 NM_000132 human genbank 54_36p -1 reviewed missense c.1730 p.S577Y 1 superfamily_Cupredoxins "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors F8 306700.0148 577 S P Hemophilia A IQSEC2 23096 hgsc.bcm.edu 36 X 53287693 53287693 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID X 53287693 53287693 C A SNP IQSEC2 NM_015075 human genbank 54_36p -1 validated missense c.2398 p.V800L 1 "superfamily_SSF50729,HMMSmart_PH" "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMSmart_PH" - no_errors IQSEC2 300522.0002 801 Q P "Mental retardation, X-linked 1," CNGA3 1261 hgsc.bcm.edu 36 2 98379650 98379650 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0714-01A-01W-0370-10 TCGA-13-0714-10B-01W-0370-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 98379650 98379650 G A SNP CNGA3 NM_001298 human genbank 54_36p 1 reviewed missense c.1585 p.V529M 1 "HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding" "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324" - no_errors CNGA3 600053.0008 529 V M "Achromatopsia-2," EFEMP1 2202 hgsc.bcm.edu 36 2 55951730 55951730 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 2 55951730 55951730 G A SNP EFEMP1 NM_001039348 human genbank 54_36p -1 reviewed missense c.1033 p.R345W 1 "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181" "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors EFEMP1 601548.0001 345 R W "Doyne honeycomb degeneration of retina," LRP2 4036 hgsc.bcm.edu 36 2 169770382 169770382 + Missense_Mutation SNP C C G novel Unknown TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 2 169770382 169770382 C G SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.7568 p.W2523S 1 "superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b" ############################################################################################################################################################################################################################################################### - no_errors LRP2 600073.0001 2522 Y H "Donnai-Barrow syndrome," F2 2147 hgsc.bcm.edu 36 11 46697948 46697948 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 11 46697948 46697948 A T SNP F2 NM_000506 human genbank 54_36p 1 reviewed missense c.200 p.Y67F 0.98 "HMMSmart_GLA,superfamily_VitK_dep_GLA,HMMPfam_Gla,PatternScan_GLA_1" ############################################################################################################################################################################################################################################################### - no_errors F2 176930.0012 67 R H Hypoprothrombinemia; Dysprothrombinemia; Hyperprothrombinemia MEN1 4221 hgsc.bcm.edu 36 11 64329795 64329795 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 T T . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 11 64329795 64329795 T C SNP MEN1 NM_000244 human genbank 54_36p -1 reviewed missense c.1088 p.E363G 1 HMMPfam_Menin HMMPfam_Menin - no_errors MEN1 131100.0009 363 E - "Multiple endocrine neoplasia I; Hyperparathyroidism, AD; Prolactinoma, hyperparathyroidism, carcinoid syndrome; Carcinoid tumor of lung; Parathyroid adenoma, somatic; Lipoma, somatic; Angiofibroma, somatic; Adrenal adenoma, somatic" HNF1A 6927 hgsc.bcm.edu 36 12 119921766 119921766 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 G G . . . . Unknown Unknown Somatic Phase_III Capture SOLID 12 119921766 119921766 G A SNP HNF1A NM_000545 human genbank 54_36p 1 reviewed missense c.1721 p.S574N 0.09 HMMPfam_HNF-1A_C "superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C,HMMPfam_HNF-1A_C" - no_errors HNF1A 142410.0013 574 G S "MODY, type III; Diabetes mellitus, noninsulin-dependent, 2; Diabetes mellitus, insulin-dependent; Hepatic adenoma; Renal cell carcinoma; Diabetes mellitus, insulin-dependent, 20," KCNA1 3736 hgsc.bcm.edu 36 12 4891330 4891330 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 4891330 4891330 G A SNP KCNA1 NM_000217 human genbank 54_36p 1 reviewed missense c.525 p.M175I 1 superfamily_SSF81324 "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA1 176260.0003 174 V F "Episodic ataxia/myokymia syndrome," TRPV4 59341 hgsc.bcm.edu 36 12 108706569 108706569 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1555-01A-01W-0552-10 TCGA-24-1555-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 12 108706569 108706569 T C SNP TRPV4 NM_021625 human genbank 54_36p -1 reviewed missense c.2393 p.D798G 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans" - no_errors TRPV4 605427.0007 799 P L "Brachyolmia type 3; Spondylometaphyseal dysplasia, Kozlowski type; Metatropic dysplasia; Hereditary motor and sensory neuropathy, type IIc; Scapuloperoneal spinal muscular atrophy," ANG 283 hgsc.bcm.edu 36 14 20231685 20231685 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 14 20231685 20231685 A T SNP ANG NM_001097577 human genbank 54_36p 1 reviewed missense c.122 p.K41I 0.53 "superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA" "superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC" - no_errors ANG 105850.0006 40 K I "Amyotrophic lateral sclerosis 9," CREBBP 1387 hgsc.bcm.edu 36 16 3729725 3729725 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 A A A C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 16 3729725 3729725 A C SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed missense c.4135 p.F1379V 1 HMMPfam_DUF906 ############################################################################################################################################################################################################################################################### - no_errors CREBBP 600140.0003 1378 R P "Rubenstein-Taybi syndrome," CRLF1 9244 hgsc.bcm.edu 36 19 18568727 18568728 + Frame_Shift_Del DEL CG CG - novel Unknown TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 CG CG . . . . Unknown Unknown Somatic Phase_IV Capture SOLID 19 18568727 18568728 CG - DEL CRLF1 NM_004750 human genbank 54_36p -1 validated frame_shift_del c.830_829 p.R277fs 0.992:0.998 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "superfamily_FN_III-like,HMMPfam_EpoR_lig-bind,HMMSmart_FN3,HMMPfam_fn3" "(deletion:cds_exon[18568702,18568859])" no_errors CRLF1 604237.0009 277 R * "Cold-induced sweating syndrome; Crisponi syndrome," GSS 2937 hgsc.bcm.edu 36 20 32988441 32988441 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 20 32988441 32988441 C G SNP GSS NM_000178 human genbank 54_36p -1 reviewed missense c.655 p.D219H 1 "superfamily_SSF56059,HMMPfam_GSH_synth_ATP,HMMPfam_GSH_synthase,superfamily_PreATP-grasp-like" "superfamily_SSF56059,HMMPfam_GSH_synth_ATP,HMMPfam_GSH_synthase,superfamily_PreATP-grasp-like" - no_errors GSS 601002.0007 219 D G "Hemolytic anemia due to glutathione synthetase deficiency; Glutathione synthetase deficiency," NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T T C rs11554290 by-hapmap TCGA-61-2016-01A-01W-0722-08 TCGA-61-2016-10A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 115058052 115058052 T C SNP NRAS NM_002524 human genbank 54_36p -1 reviewed missense c.182 p.Q61R 1 "HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors NRAS 164790.0005 60 G E "Colorectal cancer; Thyroid carcinoma, follicular; Autoimmune lymphoproliferative syndrome type IV; Noonan syndrome 6," NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T T C rs11554290 by-hapmap TCGA-61-2095-01A-01W-0722-08 TCGA-61-2095-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 1 115058052 115058052 T C SNP NRAS NM_002524 human genbank 54_36p -1 reviewed missense c.182 p.Q61R 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174" - no_errors NRAS 164790.0005 60 G E "Colorectal cancer; Thyroid carcinoma, follicular; Autoimmune lymphoproliferative syndrome type IV; Noonan syndrome 6," PVRL4 81607 broad.mit.edu 36 1 159314045 159314045 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2002-01A-01W-0722-08 TCGA-61-2002-11A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 1 159314045 159314045 G T SNP PVRL4 NM_030916 human genbank 54_36p -1 validated missense c.552 p.D184E 1 "superfamily_SSF48726,HMMPfam_C2-set_2" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C2-set_2,HMMSmart_IGc2,HMMPfam_ig" - no_errors PVRL4 609607.0002 185 T M "Ectodermal dysplasia-syndactyly syndrome 1," LHCGR 3973 broad.mit.edu 36 2 48768695 48768695 + Missense_Mutation SNP A A G novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A G G A A Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 2 48768695 48768695 A G SNP LHCGR NM_000233 human genbank 54_36p -1 reviewed missense c.1745 p.M582T 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LHCGR 152790.0003 582 D G "Precocious puberty, male; Leydig cell hypoplasia with pseudohermaphroditism; Leydig cell hypoplasia with hypergonadotropic hypogonadism; Luteinizing hormone resistance, female; Leydig cell adenoma, somatic, with precocious puberty," TLL1 7092 broad.mit.edu 36 4 167144075 167144075 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 4 167144075 167144075 G T SNP TLL1 NM_012464 human genbank 54_36p 1 reviewed missense c.715 p.V239F 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin" ############################################################################################################################################################################################################################################################### - no_errors TLL1 606742.0002 238 V A "Atrial septal defect 6," DMGDH 29958 broad.mit.edu 36 5 78395229 78395229 + Missense_Mutation SNP T T C novel Unknown TCGA-13-2060-01A-01W-0799-08 TCGA-13-2060-10A-01W-0799-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 78395229 78395229 T C SNP DMGDH NM_013391 human genbank 54_36p -1 reviewed missense c.239 p.E80G 1 "HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain" "HMMPfam_DAO,HMMPfam_GCV_T,HMMPfam_GCV_T_C,superfamily_Aminomethyltransferase beta-barrel domain,superfamily_Aminomethyltransferase folate-binding domain,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain" - no_errors DMGDH 605849.0001 81 H R "Dimethylglycine dehydrogenase deficiency," NR3C1 2908 broad.mit.edu 36 5 142641666 142641666 + Missense_Mutation SNP A A G novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 A A G G A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 142641666 142641666 A G SNP NR3C1 NM_001024094 human genbank 54_36p -1 reviewed missense c.2318 p.L773P 1 superfamily_Str_ncl_receptor "HMMPfam_GCR,HMMSmart_ZnF_C4,superfamily_SSF57716,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors NR3C1 138040.0012 773 L P Cortisol resistance GLRA1 2741 broad.mit.edu 36 5 151214884 151214884 + Missense_Mutation SNP C C A novel Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 5 151214884 151214884 C A SNP GLRA1 NM_000171 human genbank 54_36p -1 reviewed missense c.607 p.A203S 1 "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD" "superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb" - no_errors GLRA1 138491.0010 202 Y * "Startle disease/hyperekplexia, autosomal dominant; Startle disease, autosomal recessive; Hyperekplexia and spastic paraparesis" PRPH2 5961 broad.mit.edu 36 6 42797500 42797500 + Missense_Mutation SNP T T C novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 6 42797500 42797500 T C SNP PRPH2 NM_000322 human genbank 54_36p -1 reviewed missense c.551 p.Y184C 1 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,superfamily_Tetraspanin,PatternScan_RDS_ROM1" - no_errors PRPH2 179605.0004 185 L P ############################################################################################################################################################################################################################################################### BRAF 673 broad.mit.edu 36 7 140099662 140099662 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1565-01A-01W TCGA-24-1565-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 7 140099662 140099662 T C SNP BRAF NM_004333 human genbank 54_36p -1 reviewed missense c.1742 p.N581S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST" ############################################################################################################################################################################################################################################################### - no_errors BRAF 164757.0019 581 N D "Melanoma, malignant, somatic; Colorectal cancer, somatic; Adenocarcinoma of lung, somatic; Nonsmall cell lung cancer, somatic; Cardiofaciocutaneous syndrome," TRPS1 7227 broad.mit.edu 36 8 116499853 116499853 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 116499853 116499853 G A SNP TRPS1 NM_014112 human genbank 54_36p -1 reviewed missense c.2704 p.R902C 1 superfamily_SSF57716 "HMMSmart_ZnF_C2H2,superfamily_SSF57716,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors TRPS1 604386.0007 901 T P "Trichorhinophalangeal syndrome, type I; Trichorhinophalangeal syndrome, type III," TG 7038 broad.mit.edu 36 8 134004768 134004768 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2113-01A-01W-0722-08 TCGA-61-2113-11A-01W-0723-08 T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 134004768 134004768 T C SNP TG NM_003235 human genbank 54_36p 1 validated missense c.4532 p.V1511A 1 superfamily_Thyroglobulin type-1 domain "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors TG 188450.0003 1511 R * "Thyroid dyshormonogenesis 3; Autoimmune thyroid disease, susceptibility to 3," TG 7038 broad.mit.edu 36 8 134103548 134103548 + Missense_Mutation SNP G G A novel Unknown TCGA-09-2051-01A-01W-0799-08 TCGA-09-2051-10A-01W-0799-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 8 134103548 134103548 G A SNP TG NM_003235 human genbank 54_36p 1 validated missense c.7007 p.R2336Q 1 "HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like" - no_errors TG 188450.0017 2336 R Q "Thyroid dyshormonogenesis 3; Autoimmune thyroid disease, susceptibility to 3," CYP11B1 1584 broad.mit.edu 36 8 143953509 143953509 + Missense_Mutation SNP G G C novel Unknown TCGA-59-2355-01A-01W-0799-08 TCGA-59-2355-10A-01W-0800-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 143953509 143953509 G C SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.1264 p.R422G 0.98 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP11B1 610613.0015 423 Y * "Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable," CYP11B1 1584 broad.mit.edu 36 8 143954132 143954132 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 8 143954132 143954132 C A SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.1119 p.L373F 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP11B1 610613.0004 374 R Q "Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable," SURF1 6834 broad.mit.edu 36 9 135208748 135208748 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 9 135208748 135208748 G T SNP SURF1 NM_003172 human genbank 54_36p -1 reviewed nonsense c.822 p.Y274* 1 HMMPfam_SURF1 HMMPfam_SURF1 - no_errors SURF1 185620.0010 274 Y D "Leigh syndrome, due to COX deficiency," OPTN 10133 broad.mit.edu 36 10 13207996 13207996 + Missense_Mutation SNP A A C novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 10 13207996 13207996 A C SNP OPTN NM_001008211 human genbank 54_36p 1 reviewed missense c.1193 p.Q398P 0.99 NULL NULL - no_errors OPTN 602432.0006 398 Q * "Glaucoma 1, open angle, E; Glaucoma, normal tension, susceptibility to; Amytrophic lateral sclerosis 12," PTEN 5728 broad.mit.edu 36 10 89707652 89707652 + Frame_Shift_Del DEL C - - novel Unknown TCGA-13-1492-01A-01D TCGA-13-1492-10A-01W C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 10 89707652 89707652 C - DEL PTEN NM_000314 human genbank 54_36p 1 reviewed frame_shift_del c.697 p.R233fs 1 "HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" "(deletion:cds_exon[89707590,89707756])" no_errors PTEN 601728.0002 233 R * ############################################################################################################################################################################################################################################################### ABCC8 6833 broad.mit.edu 36 11 17375098 17375098 + Missense_Mutation SNP C C A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 17375098 17375098 C A SNP ABCC8 NM_000352 human genbank 54_36p -1 reviewed missense c.4060 p.D1354Y 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC8 600509.0012 1353 R H "Hyperinsulinemic hypoglycemia, familial, 1; Hypoglycemia of infancy, leucine-sensitive; Diabetes mellitus, transient neonatal 2; Diabetes mellitus, noninsulin-dependent; Diabetes mellitus, permanent neonatal," MYO7A 4647 broad.mit.edu 36 11 76547025 76547025 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C Unknown Unknown Somatic Phase_I Capture Sequenom Illumina GAIIx 11 76547025 76547025 C T SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed missense c.904 p.R302C 1 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors MYO7A 276903.0006 302 R H "Usher syndrome, type 1B; Deafness, autosomal recessive 2, neurosensory; Deafness, autosomal dominant 11, neurosensory," TRPC6 7225 broad.mit.edu 36 11 100880101 100880101 + Missense_Mutation SNP G G T novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 100880101 100880101 G T SNP TRPC6 NM_004621 human genbank 54_36p -1 reviewed missense c.809 p.S270Y 1 HMMPfam_TRP_2 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2" - no_errors TRPC6 603652.0003 270 S T "Glomerulosclerosis, focal segmental, 2," HMBS 3145 broad.mit.edu 36 11 118464151 118464177 + Splice_Site DEL GTGACCTGGGGACTTTTTCTGCAGGAA - GTGACCTGGGGACTTTTTCTGCAGGAA novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 GTGACCTGGGGACTTTTTCTGCAGGAA GTGACCTGGGGACTTTTTCTGCAGGAA Unknown Unknown Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 11 118464151 118464177 GTGACCTGGGGACTTTTTCTGCAGGAA - DEL HMBS NM_000190 human genbank 54_36p 1 reviewed splice_site_del c.34-24_34-1 e2-1 0.026:0.010:0.002:0.002:0.000:0.000:0.000:0.007:0.010:0.013:0.002:0.009:0.029:0.050:0.050:0.056:0.042:0.041:0.017:0.033:0.727:0.986:1.000:1.000:1.000:0.998:0.967 - - "(deletion:intron[118460987,118464174], cds_exon[118464175,118464228])" no_errors HMBS 609806.0004 116 R W "Porphyria, acute intermittent; Porphyria, acute intermittent, nonerythroid variant," TECTA 7007 broad.mit.edu 36 11 120536216 120536216 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 120536216 120536216 G T SNP TECTA NM_005422 human genbank 54_36p 1 reviewed missense c.4852 p.V1618L 1 "HMMPfam_VWD,HMMSmart_SM00216" ############################################################################################################################################################################################################################################################### - no_errors TECTA 602574.0005 1619 C S "Deafness, autosomal dominant 8/12; Deafness, autosomal recessive 21," KIRREL3 84623 broad.mit.edu 36 11 125821979 125821979 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 125821979 125821979 A T SNP KIRREL3 NM_032531 human genbank 54_36p -1 provisional missense c.1010 p.M337K 1 "HMMPfam_I-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors KIRREL3 607761.0002 336 R Q "Mental retardation, autosomal dominant 4," KCNJ1 3758 broad.mit.edu 36 11 128214814 128214814 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 11 128214814 128214814 C T SNP KCNJ1 NM_000220 human genbank 54_36p -1 reviewed missense c.592 p.A198T 0.99 "HMMPfam_IRK,superfamily_E set domains" "superfamily_Voltage-gated potassium channels,HMMPfam_IRK,superfamily_E set domains" - no_errors KCNJ1 600359.0007 198 A T "Bartter syndrome, type 2," KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2038-01A-01W-0722-08 TCGA-24-2038-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx 12 25289551 25289551 C A SNP KRAS NM_033360 human genbank 54_36p -1 reviewed missense c.35 p.G12V 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors KRAS 190070.0008 11 G - "Lung cancer; Bladder cancer; Breast cancer, somatic; Pancreatic carcinoma, somatic; Stomach cancer; Leukemia, acute myelogenous; Noonan syndrome 3; Cardiofaciocutaneous syndrome," FGD4 121512 broad.mit.edu 36 12 32642767 32642767 + Nonsense_Mutation SNP C C T novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 32642767 32642767 C T SNP FGD4 NM_139241 human genbank 54_36p 1 reviewed nonsense c.670 p.R224* 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors FGD4 611104.0001 224 R * "Charcot-Marie-Tooth disease, type 4H," VDR 7421 broad.mit.edu 36 12 46537571 46537571 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 12 46537571 46537571 C A SNP VDR NM_000376 human genbank 54_36p -1 reviewed missense c.445 p.D149Y 0.98 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors VDR 601769.0006 149 Q * "Rickets, vitamin D-resistant, type IIA; ?Osteoporosis, involutional," PAH 5053 broad.mit.edu 36 12 101770838 101770838 + Nonsense_Mutation SNP G G A rs5030846 Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 12 101770838 101770838 G A SNP PAH NM_000277 human genbank 54_36p -1 reviewed nonsense c.727 p.R243* 1 "HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase" "HMMPfam_ACT,PatternScan_BIOPTERIN_HYDROXYL,HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase,superfamily_SSF55021" - no_errors PAH 612349.0014 243 R Q "Phenylketonuria; Hyperphenylalaninemia, non-PKU mild," BRCA2 675 broad.mit.edu 36 13 31812137 31812137 + Nonsense_Mutation SNP C C A novel Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 13 31812137 31812137 C A SNP BRCA2 NM_000059 human genbank 54_36p 1 reviewed nonsense c.5645 p.S1882* 0.01 NULL "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" - no_errors BRCA2 600185.0031 1882 S * "Breast-ovarian cancer, familial, 2; Fanconi anemia, complementation group D1; Prostate cancer; Breast cancer, male, susceptibility to; Wilms tumor; Medulloblastoma; Glioblastoma 3; Pre-B-cell acute lymphoblastic leukemia; Pancreatic cancer," OCA2 4948 broad.mit.edu 36 15 25902144 25902144 + Missense_Mutation SNP G G C novel Unknown TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 G G C C G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 25902144 25902144 G C SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed missense c.1445 p.T482S 1 HMMPfam_CitMHS HMMPfam_CitMHS - no_errors OCA2 611409.0003 481 A T "Albinism, oculocutaneous, type II; Albinism, brown oculocutaneous; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Skin/hair/eye pigmentation 1, blond/brown hair," CDAN1 146059 broad.mit.edu 36 15 40805047 40805047 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2351-01A-01W-0799-08 TCGA-59-2351-10A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 15 40805047 40805047 G A SNP CDAN1 NM_138477 human genbank 54_36p -1 validated missense c.3382 p.P1128S 1 NULL NULL - no_errors CDAN1 607465.0002 1129 P L "Anemia, congenital dyserythropoietic, type I," IL4R 3566 broad.mit.edu 36 16 27281903 27281903 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 16 27281903 27281903 G A SNP IL4R NM_000418 human genbank 54_36p 1 reviewed missense c.1729 p.E577K 0.18 NULL "superfamily_Fibronectin type III,HMMPfam_IL4Ra_N,PatternScan_HEMATOPO_REC_S_F1" - no_errors IL4R 147781.0001 576 Q R "Atopy, susceptibility to; AIDS, slow progression to," ATP8B1 5205 broad.mit.edu 36 18 53506591 53506591 + Missense_Mutation SNP G G A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 18 53506591 53506591 G A SNP ATP8B1 NM_005603 human genbank 54_36p -1 reviewed missense c.1367 p.T456M 1 "PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81665" "HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665" - no_errors ATP8B1 602397.0012 456 T M "Cholestasis, progressive familial intrahepatic 1; Cholestasis, benign recurrent intrahepatic," PROKR2 128674 broad.mit.edu 36 20 5242763 5242763 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1313-01A-01W TCGA-25-1313-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 5242763 5242763 G A SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed missense c.253 p.R85C 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors PROKR2 607123.0003 85 R H "Kallmann syndrome 3," DNMT3B 1789 broad.mit.edu 36 20 30853861 30853861 + Missense_Mutation SNP G G T novel Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 G G T T G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 20 30853861 30853861 G T SNP DNMT3B NM_006892 human genbank 54_36p 1 reviewed missense c.2155 p.V719L 1 "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase" "superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_1" - no_errors DNMT3B 602900.0003 718 V G "Immunodeficiency-centromeric instability-facial anomalies syndrome," GNAS 2778 broad.mit.edu 36 20 56913889 56913889 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0913-01A-01W TCGA-13-0913-10A-01D C C G G C C Unknown Valid Somatic Phase_I Capture Capture;Sequenom Illumina GAIIx 20 56913889 56913889 C G SNP GNAS NM_001077488 human genbank 54_36p 1 reviewed nonsense c.492 p.Y164* 0.98 "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" "HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert" - no_errors GNAS 139320.0007 165 C R "Pseudohypoparathyroidism Ia; McCune-Albright syndrome; Pseudohypoparathyroidism Ic; Osseous heteroplasia, progressive; Pseudohypoparathyroidism Ib; Prolonged bleeding time, brachydactyly and mental retardation; Acromegaly; Pseudopseudohypoparathyroidism," COL6A2 1292 broad.mit.edu 36 21 46376631 46376631 + Missense_Mutation SNP C C T novel Unknown TCGA-20-0990-01A-01W TCGA-20-0990-10A-01W C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 21 46376631 46376631 C T SNP COL6A2 NM_001849 human genbank 54_36p 1 reviewed missense c.2797 p.R933C 0 "HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like" "HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Collagen,superfamily_vWA-like" - no_errors COL6A2 120240.0010 932 P L "Bethlem myopathy; Ullrich congenital muscular dystrophy; Myosclerosis, congenital," BMP15 9210 broad.mit.edu 36 X 50675797 50675797 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx X 50675797 50675797 A T SNP BMP15 NM_005448 human genbank 54_36p 1 reviewed missense c.629 p.Q210L 0.42 NULL "superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors BMP15 300247.0004 211 E * "Ovarian dysgenesis 2; Premature ovarian failure 4," PLP1 5354 broad.mit.edu 36 X 102928267 102928267 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Sequenom;Capture Illumina GAIIx X 102928267 102928267 C T SNP PLP1 NM_000533 human genbank 54_36p 1 reviewed missense c.409 p.R137W 1 HMMPfam_Myelin_PLP "HMMPfam_Myelin_PLP,PatternScan_MYELIN_PLP_1,HMMSmart_SM00002,PatternScan_MYELIN_PLP_2" - no_errors PLP1 300401.0026 137 R W "Pelizaeus-Merzbacher disease; Spastic paraplegia-2," TTN 7273 genome.wustl.edu 36 2 179313341 179313341 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 179313341 179313341 C A SNP TTN ENST00000359218 human ensembl 54_36p -1 known missense c.12156 p.E4052D 1 NULL "PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,PatternScan_FGGY_KINASES_1" - no_stop_codon TTN 188840.0009 4053 Q * ############################################################################################################################################################################################################################################################### USH2A 7399 genome.wustl.edu 36 1 214487150 214487150 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214487150 214487150 G A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed nonsense c.2209 p.R737* 0.83 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors USH2A 608400.0011 737 R * "Usher syndrome, type 2A; Retinitis pigmentosa-39," RB1 5925 genome.wustl.edu 36 13 47853541 47853556 + Frame_Shift_Del DEL ATGTGAACATCGAATC ATGTGAACATCGAATC - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 ATGTGAACATCGAATC ATGTGAACATCGAATC ATGTGAACATCGAATC - ATGTGAACATCGAATC ATGTGAACATCGAATC Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 47853541 47853556 ATGTGAACATCGAATC - DEL RB1 NM_000321 human genbank 54_36p 1 reviewed frame_shift_del c.1656_1671 p.C553fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000 "HMMPfam_RB_A,superfamily_Cyclin-like" "HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C" "(deletion:cds_exon[47853384,47853580])" no_errors RB1 180200.0022 556 R * Retinoblastoma; Osteosarcoma; Bladder cancer; Pinealoma with bilateral retinoblastoma RB1 5925 genome.wustl.edu 36 13 47937375 47937375 + Nonsense_Mutation SNP C T T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47937375 47937375 C T SNP RB1 NM_000321 human genbank 54_36p 1 reviewed nonsense c.2359 p.R787* 1 HMMPfam_Rb_C "HMMPfam_RB_B,HMMPfam_RB_A,HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Rb_C" - no_errors RB1 180200.0005 787 R * Retinoblastoma; Osteosarcoma; Bladder cancer; Pinealoma with bilateral retinoblastoma TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G A A rs28934574 Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0018 282 R W "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0018 282 R W "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517824 7517824 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517824 7517824 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.839 p.R280I 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0024 280 R T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517842 7517842 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517842 7517842 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.821 p.V274D 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0020 273 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C A A rs28934576 Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273L 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_III Capture "454_PCR_WGA,Sanger_PCR_WGA" dbGAP Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517849 7517849 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C - C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517849 7517849 C - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.814 p.V272fs 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880])" no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518272 7518272 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245V 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7518284 7518284 + Missense_Mutation SNP G A A rs28934573 Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0013 241 S F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519186 7519186 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0007 157 V F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519188 7519188 + Missense_Mutation SNP C G G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519188 7519188 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.467 p.R156P 0.01 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0007 157 V F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519195 7519225 + Frame_Shift_Del DEL CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG - novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG - CGGGCGGGGGTGTGGAATCAACCCACAGCTG CGGGCGGGGGTGTGGAATCAACCCACAGCTG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519195 7519225 CGGGCGGGGGTGTGGAATCAACCCACAGCTG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.460_430 p.Q144fs 0.496:0.001:0.001:0.001:0.001:0.996:0.998:0.906:0.998:0.997:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.014:0.987:0.994:0.947:0.886:0.843:0.860:0.979:0.970:0.987:0.998:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 191170.0026 151 P S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519204 7519204 + Missense_Mutation SNP G G A rs28934874 Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519204 7519204 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.451 p.P151S 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0026 151 P S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519259 7519259 + Missense_Mutation SNP C C A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519259 7519259 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.396 p.K132N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0011 133 M T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519260 7519260 + Missense_Mutation SNP T A A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519260 7519260 T A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.395 p.K132M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0011 133 M T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7514743 7514743 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7514743 7514743 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.1009 p.R337C 0.47 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" - no_errors TP53 191170.0035 337 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517818 7517818 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 C C C C C C Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517818 7517818 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.845 p.R282P 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0018 282 R W "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517818 7517819 + Frame_Shift_Ins INS - - G novel Unknown TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 - - - G - - Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517818 7517819 - G INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.845_844 p.R282fs 0.996:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0018 282 R W "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0018 282 R W "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0018 282 R W "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517819 7517819 + Missense_Mutation SNP G G A rs28934574 Unknown TCGA-25-1623-01A-01W-0615-10 TCGA-25-1623-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0018 282 R W "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517821 7517821 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1023-01A-03W-0484-10 TCGA-23-1023-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517821 7517821 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.842 p.D281G 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0024 280 R T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-04-1530-01A-02W-0552-10 TCGA-04-1530-10A-01W-0552-10 C C C T C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0761-01A-01W-0370-10 TCGA-13-0761-10A-01W-0370-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-24-1558-01A-01W-0615-10 TCGA-24-1558-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-36-1575-01A-01W-0615-10 TCGA-36-1575-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 G G G A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-36-1580-01A-01W-0615-10 TCGA-36-1580-10A-01W-0615-10 G G G A G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518231 7518231 + Missense_Mutation SNP C C A novel Unknown TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518231 7518231 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.775 p.D259Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0002 258 E K "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518231 7518231 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1635-01A-01W-0615-10 TCGA-25-1635-10A-01W-0616-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518231 7518231 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.775 p.D259Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0002 258 E K "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518257 7518257 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 G G A A G G Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518257 7518257 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.749 p.P250L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0006 249 R S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 byHapMap TCGA-04-1364-01A-01W-0490-10 TCGA-04-1364-10A-01W-0490-10 C C T T C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518263 7518264 + Frame_Shift_Ins INS - - G novel Unknown TCGA-36-1570-01A-01W-0615-10 TCGA-36-1570-10A-01W-0615-10 - - - G - - Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518263 7518264 - G INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.743_742 p.R248fs 1.000:1.000 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518264 7518264 + Missense_Mutation SNP G C C novel Unknown TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 G G C C G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518264 7518264 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248G 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1626-01A-01W-0615-10 TCGA-25-1626-10A-01W-0615-10 C C C A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518272 7518272 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245V 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1317-01A-01W-0490-10 TCGA-25-1317-10A-01W-0490-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518273 7518273 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518276 7518276 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1560-01A-01W-0615-10 TCGA-24-1560-10A-01W-0615-10 C C A A C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518276 7518276 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.730 p.G244C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 G G G T G G Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518284 7518284 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241Y 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0013 241 S F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1548-01A-01W-0615-10 TCGA-24-1548-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1553-01A-01W-0552-10 TCGA-24-1553-10A-01W-0552-10 T T T C T T Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519128 7519128 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 C C C C C C Unknown None Wildtype Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519128 7519128 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176F 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-09-1662-01A-01W-0615-10 TCGA-09-1662-10A-01W-0616-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA SOLID 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 C C C T C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-1633-01A-01W-0615-10 TCGA-25-1633-10A-01W-0616-10 C C . . . . Unknown Unknown Somatic Phase_III Capture SOLID 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 C C C A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0007 157 V F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1105-01A-01W-0484-10 TCGA-24-1105-10A-01W-0484-10 C C A A C C Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0007 157 V F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1614-01A-01W-0552-10 TCGA-24-1614-10A-01W-0552-10 C C A A C C Unknown Valid Somatic Phase_IV Capture 454_PCR_WGA SOLID 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0007 157 V F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519255 7519255 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 A A C C A A Unknown Valid Somatic Phase_IV Capture Sanger_PCR_WGA SOLID 17 7519255 7519255 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.400 p.F134V 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0011 133 M T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7519260 7519260 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 T T T C T T Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA SOLID 17 7519260 7519260 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.395 p.K132R 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0011 133 M T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7514720 7514720 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1434-01A-01W TCGA-24-1434-10A-01W C C - - C C Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7514720 7514720 C - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.1032 p.N345fs 0.72 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7514652,7514758])" no_errors TP53 191170.0031 344 L P "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517807 7517807 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1326-01A-01W TCGA-25-1326-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Broad454,Capture" Illumina GAIIx 17 7517807 7517807 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.856 p.E286K 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0040 285 E V "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517813 7517813 + Frame_Shift_Del DEL T - T novel Unknown TCGA-24-2267-01A-01W-0799-08 TCGA-24-2267-11A-01W-0799-08 T T - - T T Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7517813 7517813 T - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.850 p.T284fs 0.04 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7517744,7517880])" no_errors TP53 191170.0040 285 E V "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517827 7517827 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0904-01A-02W TCGA-13-0904-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517827 7517827 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.836 p.G279E 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0024 280 R T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517842 7517842 + Missense_Mutation SNP A A C novel Unknown TCGA-24-2290-01A-01W-0799-08 TCGA-24-2290-10A-01W-0799-08 A A C C A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517842 7517842 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.821 p.V274G 0.99 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0020 273 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C A rs28934576 Unknown TCGA-13-1512-01A-01W TCGA-13-1512-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517845 7517845 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273L 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T rs28934576 Unknown TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C G rs28934576 Unknown TCGA-13-0905-01B-01W TCGA-13-0905-10A-01W C C G G C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517845 7517845 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273P 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-59-2348-01A-01W-0799-08 TCGA-59-2348-11A-01W-0800-08 G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1321-01A-01W TCGA-25-1321-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.8 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517849 7517849 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0886-01A-01W TCGA-13-0886-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517849 7517849 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.814 p.V272M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517849 7517849 + Missense_Mutation SNP C C T novel Unknown TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517849 7517849 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.814 p.V272M 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7517852 7517852 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1471-01A-01W TCGA-24-1471-10A-01W C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7517852 7517852 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.811 p.E271* 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518236 7518236 + Missense_Mutation SNP A A T rs28934577 Unknown TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 A A T T A A Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518236 7518236 A T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.770 p.L257Q 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0028 257 L Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518239 7518241 + In_Frame_Del DEL GTG - GTG novel Unknown TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 GTG GTG - - GTG GTG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518239 7518241 GTG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.767_765 p.T256in_frame_del 1.000:1.000:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 191170.0028 257 L Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518239 7518247 + In_Frame_Del DEL GTGATGATG GTGATGATG - novel Unknown TCGA-23-1031-01A-01W TCGA-23-1031-10A-01W GTGATGATG GTGATGATG - - GTGATGATG GTGATGATG Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518239 7518247 GTGATGATG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.767_759 p.IIT254in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 191170.0004 252 L P "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518254 7518254 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1504-01A-01W TCGA-13-1504-10A-01W A A C C A A Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518254 7518254 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.752 p.I251S 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0004 252 L P "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518257 7518257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-2288-01A-01W-0799-08 TCGA-24-2288-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7518257 7518257 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.749 p.P250L 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0006 249 R S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518261 7518261 + Missense_Mutation SNP T T C rs67185453 Unknown TCGA-24-1466-01A-01W TCGA-24-1466-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518261 7518261 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.745 p.R249G 0.99 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-0979-01A-01W TCGA-24-0979-10B-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-1419-01A-01W TCGA-24-1419-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-23-1032-01A-02W TCGA-23-1032-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-13-1496-01A-01W TCGA-13-1496-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-10-0934-01A-02W TCGA-10-0934-11A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "WU-454,Capture" Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-57-1993-01A-01W-0699-08 TCGA-57-1993-11A-01W-0700-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C C T rs11540652 by-hapmap TCGA-24-2260-01A-01W-0722-08 TCGA-24-2260-11A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518263 7518263 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-25-2409-01A-01W-0799-08 TCGA-25-2409-10A-01W-0799-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1422-01A-01W TCGA-24-1422-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1551-01A-01W TCGA-24-1551-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C T novel Unknown TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C G rs28934575 Unknown TCGA-61-1736-01B-01W-0722-08 TCGA-61-1736-11A-01W-0722-08 C C G G C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518273 7518273 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245R 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C C T rs28934575 Unknown TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518273 7518273 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.733 p.G245S 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518275 7518275 + Missense_Mutation SNP C C T rs28934572 Unknown TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518275 7518275 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.731 p.G244D 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518276 7518276 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 C C A A C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518276 7518276 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.730 p.G244C 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-04-1367-01A-01W TCGA-04-1367-10A-01W G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0013 241 S F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0013 241 S F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518284 7518284 + Missense_Mutation SNP G G A rs28934573 Unknown TCGA-20-0991-01A-03D TCGA-20-0991-10A-01D G G A A G G Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7518284 7518284 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.722 p.S241F 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0013 241 S F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518288 7518296 + In_Frame_Del DEL TGTTACACA TGTTACACA - novel Unknown TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 TGTTACACA TGTTACACA TGTTACACA - TGTTACACA TGTTACACA Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518288 7518296 TGTTACACA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.718_710 p.MCN237in_frame_del 1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 191170.0013 241 S F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0891-01A-01W TCGA-13-0891-10A-01D T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1319-01A-01W TCGA-25-1319-10A-01W T T C C T T Unknown Valid Somatic Phase_I Capture "Broad454,Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 T T C C T T Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518991 7519015 + Splice_Site DEL TAAGATGCTGAGGAGGGGCCAGACC - TAAGATGCTGAGGAGGGGCCAGACC novel Unknown TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 TAAGATGCTGAGGAGGGGCCAGACC TAAGATGCTGAGGAGGGGCCAGACC - - TAAGATGCTGAGGAGGGGCCAGACC TAAGATGCTGAGGAGGGGCCAGACC Unknown Valid Somatic Phase_I Capture Illumina_Capture Illumina GAIIx 17 7518991 7519015 TAAGATGCTGAGGAGGGGCCAGACC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site_del c.583_560 p.G187fs 1.000:0.987:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.998:0.999:0.987:0.923:0.995:0.997:0.888:0.996:0.996:0.816:0.467:0.381:0.265:0.331 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518902,7519014], intron[7519015,7519095])" no_errors TP53 191170.0038 189 A V "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1110-01A-01D TCGA-23-1110-10A-01D C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-1122-01A-01W TCGA-23-1122-10A-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-1030-01A-02W TCGA-23-1030-10C-01W C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-61-2003-01A-01W-0722-08 TCGA-61-2003-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-24-2281-01A-01W-0799-08 TCGA-24-2281-10A-01W-0799-08 C C T T C C Unknown Valid Somatic Phase_I Capture Capture Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 Unknown TCGA-23-2077-01A-01W-0722-08 TCGA-23-2077-10A-01W-0722-08 C C T T C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0030 175 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519186 7519186 + Missense_Mutation SNP C C A novel Unknown TCGA-61-2009-01A-01W-0722-08 TCGA-61-2009-10A-01W-0722-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0007 157 V F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519230 7519244 + In_Frame_Del DEL GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC - novel Unknown TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC - - GGGCAGGTCTTGGCC GGGCAGGTCTTGGCC Unknown Unknown Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7519230 7519244 GGGCAGGTCTTGGCC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.425_411 p.AKTCP138in_frame_del 0.999:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:0.985 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 191170.0032 138 A P "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519259 7519259 + Missense_Mutation SNP C C A novel Unknown TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 C C A A C C Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 7519259 7519259 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.396 p.K132N 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0011 133 M T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7519261 7519261 + Missense_Mutation SNP T T C novel Unknown TCGA-61-2000-01A-01W-0722-08 TCGA-61-2000-11A-01W-0722-08 T T C C T T Unknown Valid Somatic Phase_I Capture Sequenom Illumina GAIIx 17 7519261 7519261 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.394 p.K132E 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0011 133 M T "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," NF1 4763 broad.mit.edu 36 17 26688724 26688724 + Nonsense_Mutation SNP G G T novel Unknown TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 G G T T G G Unknown Valid Somatic Phase_I Capture "Sequenom,Capture" Illumina GAIIx 17 26688724 26688724 G T SNP NF1 NM_001042492 human genbank 54_36p 1 reviewed nonsense c.6640 p.E2214* 1 NULL "HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP" - no_errors NF1 613113.0009 2213 Y N "Neurofibromatosis, type 1; Leukemia, juvenile myelomonocytic; Melanoma, desmoplastic neurotrophic; Neurofibromatosis, familial spinal; Neurofibromatosis-Noonan syndrome; Watson syndrome," TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-59-2354-01A-01W-0799-08 TCGA-59-2354-11A-01W-0800-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 broad.mit.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel Unknown TCGA-04-1356-01A-01W TCGA-04-1356-11A-01W T T T C T T Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0039 220 Y S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7517815 7517816 + Frame_Shift_Ins INS - A A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 - - - A - - Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7517815 7517816 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.848_847 p.R283fs 0.013:0.012 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0018 282 R W "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0010 248 R Q "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 genome.wustl.edu 36 17 7519195 7519207 + Frame_Shift_Del DEL CGGGCGGGGGTGT - - novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 CGGGCGGGGGTGT CGGGCGGGGGTGT CGGGCGGGGGTGT - CGGGCGGGGGTGT CGGGCGGGGGTGT Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 17 7519195 7519207 CGGGCGGGGGTGT - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.460_448 p.T150fs 0.496:0.001:0.001:0.001:0.001:0.996:0.998:0.906:0.998:0.997:0.001:0.001:0.001 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7519096,7519279])" no_errors TP53 191170.0026 151 P S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7514743 7514743 + Frame_Shift_Del DEL G - - novel Unknown TCGA-36-1576-01A-01W-0615-10 TCGA-36-1576-10A-01W-0615-10 G G G - G G Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7514743 7514743 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.1009 p.R337fs 0.47 "HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7514652,7514758])" no_errors TP53 191170.0035 337 R H "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-36-1574-01A-01W-0615-10 TCGA-36-1574-10A-01W-0615-10 C C C T C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 "superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" - no_errors TP53 191170.0012 272 V L "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7518270 7518275 + In_Frame_Del DEL TGCCGC - - novel Unknown TCGA-13-0717-01A-01W-0370-10 TCGA-13-0717-10B-01W-0370-10 TGCCGC TGCCGC TGCCGC - TGCCGC TGCCGC Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7518270 7518275 TGCCGC - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.736_731 p.GGM244in_frame_delV 1.000:1.000:1.000:0.996:0.171:0.996 "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53" "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7518224,7518333])" no_errors TP53 191170.0019 245 G S "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7520201 7520202 + Frame_Shift_Del DEL GA - - novel Unknown TCGA-25-1634-01A-01W-0615-10 TCGA-25-1634-10A-01W-0616-10 GA GA - - GA GA Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7520201 7520202 GA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.211_210 p.P72fs 0.662:0.662 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 191170.0005 72 P R "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome," TP53 7157 hgsc.bcm.edu 36 17 7520294 7520306 + Frame_Shift_Del DEL TTGCTTGGGACGG - - novel Unknown TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 TTGCTTGGGACGG TTGCTTGGGACGG TTGCTTGGGACGG - TTGCTTGGGACGG TTGCTTGGGACGG Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA SOLID 17 7520294 7520306 TTGCTTGGGACGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.118_106 p.P36fs 0.000:0.000:0.001:0.000:0.000:0.001:0.001:0.002:0.000:0.000:0.000:0.000:0.000 NULL "PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD" "(deletion:cds_exon[7520037,7520315])" no_errors TP53 191170.0027 35 L F "Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma; Nasopharyngeal carcinoma; Pancreatic cancer; Adrenal cortical carcinoma; Breast cancer; Li-Fraumeni-like syndrome,"