Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 36163852 36163852 + Missense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 g.chr5:36163852G>A c.386G>A c.(385-387)cGc>cAc p.R129H BLCA 5 36166632 36166632 + Missense_Mutation SNP C C G TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr5:36166632C>G c.404C>G c.(403-405)tCt>tGt p.S135C BLCA 5 36168486 36168486 + Missense_Mutation SNP C C T TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr5:36168486C>T c.608C>T c.(607-609)tCt>tTt p.S203F BLCA 5 36170507 36170507 + Missense_Mutation SNP G G A TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr5:36170507G>A c.733G>A c.(733-735)Gaa>Aaa p.E245K BLCA 5 36182019 36182019 + Missense_Mutation SNP G G C TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr5:36182019G>C c.1161G>C c.(1159-1161)caG>caC p.Q387H BRCA 5 36152892 36152892 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:36152892C>A c.28C>A c.(28-30)Cca>Aca p.P10T BRCA 5 36177372 36177372 + Missense_Mutation SNP G G C TCGA-D8-A27H-01A-11D-A16D-09 TCGA-D8-A27H-10A-01D-A16D-09 g.chr5:36177372G>C c.1039G>C c.(1039-1041)Gat>Cat p.D347H CESC 5 36183987 36183987 + 3'UTR SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr5:36183987C>T CHOL 5 36181926 36181926 + Silent SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr5:36181926T>G c.1068T>G c.(1066-1068)ctT>ctG p.L356L COAD 5 36166633 36166633 + Silent SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr5:36166633T>C c.405T>C c.(403-405)tcT>tcC p.S135S COAD 5 36166633 36166633 + Silent SNP T T C TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr5:36166633T>C c.405T>C c.(403-405)tcT>tcC p.S135S COAD 5 36166633 36166633 + Silent SNP T T C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr5:36166633T>C c.405T>C c.(403-405)tcT>tcC p.S135S COAD 5 36166712 36166712 + Missense_Mutation SNP G G T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr5:36166712G>T c.484G>T c.(484-486)Gcc>Tcc p.A162S COAD 5 36166763 36166763 + Splice_Site SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr5:36166763A>G c.535A>G c.(535-537)Agc>Ggc p.S179G COAD 5 36168445 36168445 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:36168445G>A c.567G>A c.(565-567)tcG>tcA p.S189S COAD 5 36170475 36170475 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:36170475G>A c.701G>A c.(700-702)cGa>cAa p.R234Q COADREAD 5 36166633 36166633 + Silent SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr5:36166633T>C c.405T>C c.(403-405)tcT>tcC p.S135S COADREAD 5 36166633 36166633 + Silent SNP T T C TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr5:36166633T>C c.405T>C c.(403-405)tcT>tcC p.S135S COADREAD 5 36166633 36166633 + Silent SNP T T C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr5:36166633T>C c.405T>C c.(403-405)tcT>tcC p.S135S COADREAD 5 36166712 36166712 + Missense_Mutation SNP G G T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr5:36166712G>T c.484G>T c.(484-486)Gcc>Tcc p.A162S COADREAD 5 36166732 36166732 + Silent SNP A A G TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr5:36166732A>G c.504A>G c.(502-504)tcA>tcG p.S168S COADREAD 5 36166763 36166763 + Splice_Site SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr5:36166763A>G c.535A>G c.(535-537)Agc>Ggc p.S179G COADREAD 5 36168445 36168445 + Silent SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:36168445G>A c.567G>A c.(565-567)tcG>tcA p.S189S COADREAD 5 36168445 36168445 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:36168445G>A c.567G>A c.(565-567)tcG>tcA p.S189S COADREAD 5 36170475 36170475 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:36170475G>A c.701G>A c.(700-702)cGa>cAa p.R234Q DLBC 5 36163858 36163858 + Splice_Site SNP C C T TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr5:36163858C>T c.392C>T c.(391-393)gCg>gTg p.A131V GBM 5 36171807 36171807 + Missense_Mutation SNP C C A TCGA-06-2570-01A-01D-1495-08 TCGA-06-2570-10A-01D-1495-08 g.chr5:36171807C>A c.873C>A c.(871-873)agC>agA p.S291R GBMLGG 5 36152899 36152899 + Missense_Mutation SNP T T A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 g.chr5:36152899T>A c.35T>A c.(34-36)cTg>cAg p.L12Q GBMLGG 5 36168426 36168426 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:36168426T>C c.548T>C c.(547-549)gTa>gCa p.V183A GBMLGG 5 36171807 36171807 + Missense_Mutation SNP C C A TCGA-06-2570-01A-01D-1495-08 TCGA-06-2570-10A-01D-1495-08 g.chr5:36171807C>A c.873C>A c.(871-873)agC>agA p.S291R GBMLGG 5 36184025 36184025 + 3'UTR SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 g.chr5:36184025C>T HNSC 5 36152987 36152987 + Silent SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 g.chr5:36152987G>C c.123G>C c.(121-123)ctG>ctC p.L41L HNSC 5 36163786 36163786 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 g.chr5:36163786G>C c.320G>C c.(319-321)gGa>gCa p.G107A HNSC 5 36181968 36181968 + Silent SNP C C T TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr5:36181968C>T c.1110C>T c.(1108-1110)atC>atT p.I370I HNSC 5 36181975 36181975 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr5:36181975G>C c.1117G>C c.(1117-1119)Gat>Cat p.D373H HNSC 5 36181987 36181987 + Missense_Mutation SNP C C G TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr5:36181987C>G c.1129C>G c.(1129-1131)Caa>Gaa p.Q377E HNSC 5 36181999 36181999 + Nonsense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr5:36181999G>T c.1141G>T c.(1141-1143)Gaa>Taa p.E381* HNSC 5 36184011 36184011 + 3'UTR SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr5:36184011T>G KIPAN 5 36163851 36163851 + Missense_Mutation SNP C C A TCGA-A4-7997-01A-11D-2201-08 TCGA-A4-7997-10A-01D-2201-08 g.chr5:36163851C>A c.385C>A c.(385-387)Cgc>Agc p.R129S KIPAN 5 36177323 36177323 + Missense_Mutation SNP A A T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr5:36177323A>T c.990A>T c.(988-990)gaA>gaT p.E330D KIPAN 5 36183992 36183992 + 3'UTR SNP G G A TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr5:36183992G>A KIRC 5 36177323 36177323 + Missense_Mutation SNP A A T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr5:36177323A>T c.990A>T c.(988-990)gaA>gaT p.E330D KIRP 5 36163851 36163851 + Missense_Mutation SNP C C A TCGA-A4-7997-01A-11D-2201-08 TCGA-A4-7997-10A-01D-2201-08 g.chr5:36163851C>A c.385C>A c.(385-387)Cgc>Agc p.R129S KIRP 5 36183992 36183992 + 3'UTR SNP G G A TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr5:36183992G>A LGG 5 36152899 36152899 + Missense_Mutation SNP T T A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 g.chr5:36152899T>A c.35T>A c.(34-36)cTg>cAg p.L12Q LGG 5 36168426 36168426 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:36168426T>C c.548T>C c.(547-549)gTa>gCa p.V183A LGG 5 36184025 36184025 + 3'UTR SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 g.chr5:36184025C>T LIHC 5 36170455 36170455 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr5:36170455delA c.681delA c.(679-681)gcafs p.A227fs LUAD 5 36152994 36152994 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr5:36152994G>C c.130G>C c.(130-132)Gag>Cag p.E44Q LUAD 5 36153042 36153042 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr5:36153042G>T c.178G>T c.(178-180)Ggc>Tgc p.G60C LUAD 5 36166718 36166718 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr5:36166718C>T c.490C>T c.(490-492)Cgc>Tgc p.R164C LUAD 5 36171762 36171762 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr5:36171762G>T c.828G>T c.(826-828)gtG>gtT p.V276V LUAD 5 36183971 36183971 + 3'UTR SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr5:36183971G>T LUAD 5 36183978 36183978 + 3'UTR SNP C C T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr5:36183978C>T LUAD 5 36184065 36184065 + 3'UTR SNP T T C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr5:36184065T>C LUSC 5 36168476 36168476 + Missense_Mutation SNP G G T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr5:36168476G>T c.598G>T c.(598-600)Ggc>Tgc p.G200C LUSC 5 36168477 36168477 + Missense_Mutation SNP G G A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr5:36168477G>A c.599G>A c.(598-600)gGc>gAc p.G200D OV 5 36177066 36177066 + Splice_Site SNP G G C TCGA-25-2400-01A-01W-0799-08 TCGA-25-2400-10A-01W-0799-08 g.chr5:36177066G>C c.e8-1 PAAD 5 36163852 36163852 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:36163852G>A c.386G>A c.(385-387)cGc>cAc p.R129H PAAD 5 36168460 36168460 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:36168460A>G c.582A>G c.(580-582)gaA>gaG p.E194E PAAD 5 36168477 36168477 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr5:36168477G>A c.599G>A c.(598-600)gGc>gAc p.G200D READ 5 36166732 36166732 + Silent SNP A A G TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr5:36166732A>G c.504A>G c.(502-504)tcA>tcG p.S168S READ 5 36168445 36168445 + Silent SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:36168445G>A c.567G>A c.(565-567)tcG>tcA p.S189S SKCM 5 36168422 36168422 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr5:36168422C>T c.544C>T c.(544-546)Cgt>Tgt p.R182C SKCM 5 36181928 36181928 + Missense_Mutation SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr5:36181928G>A c.1070G>A c.(1069-1071)gGa>gAa p.G357E SKCM 5 36184041 36184041 + 3'UTR SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:36184041T>G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 5 36166636 36166636 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant AML-US 5 36166636 36166636 single base substitution A G exon_variant AML-US 5 36166636 36166636 single base substitution A G intron_variant AML-US 5 36166636 36166636 single base substitution A G synonymous_variant L136L 408A>G BLCA-US 5 36163852 36163852 single base substitution G A exon_variant BLCA-US 5 36163852 36163852 single base substitution G A intron_variant BLCA-US 5 36163852 36163852 single base substitution G A missense_variant R129H 386G>A BOCA-FR 5 36153760 36153761 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant BOCA-FR 5 36155370 36155370 single base substitution A G intron_variant BRCA-EU 5 36148844 36148844 single base substitution C G upstream_gene_variant BRCA-EU 5 36149497 36149497 single base substitution T C upstream_gene_variant BRCA-EU 5 36149791 36149791 single base substitution C G upstream_gene_variant BRCA-EU 5 36150215 36150215 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 36150669 36150669 single base substitution C G upstream_gene_variant BRCA-EU 5 36152958 36152958 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 5 36152958 36152958 single base substitution C T exon_variant BRCA-EU 5 36152958 36152958 single base substitution C T synonymous_variant L32L 94C>T BRCA-EU 5 36152958 36152958 single base substitution C T upstream_gene_variant BRCA-EU 5 36152983 36152983 single base substitution C T 5_prime_UTR_variant BRCA-EU 5 36152983 36152983 single base substitution C T exon_variant BRCA-EU 5 36152983 36152983 single base substitution C T missense_variant A40V 119C>T BRCA-EU 5 36152983 36152983 single base substitution C T upstream_gene_variant BRCA-EU 5 36153056 36153056 insertion of <=200bp - C 5_prime_UTR_variant BRCA-EU 5 36153056 36153056 insertion of <=200bp - C exon_variant BRCA-EU 5 36153056 36153056 insertion of <=200bp - C frameshift_variant S64S? BRCA-EU 5 36153580 36153580 single base substitution T C intron_variant BRCA-EU 5 36153860 36153860 single base substitution A C intron_variant BRCA-EU 5 36155668 36155668 single base substitution G A intron_variant BRCA-EU 5 36155751 36155751 single base substitution T A intron_variant BRCA-EU 5 36156225 36156225 single base substitution G C intron_variant BRCA-EU 5 36156943 36156943 single base substitution C T intron_variant BRCA-EU 5 36158813 36158813 single base substitution G C intron_variant BRCA-EU 5 36159274 36159274 single base substitution G A intron_variant BRCA-EU 5 36160295 36160295 single base substitution T G intron_variant BRCA-EU 5 36160526 36160526 single base substitution C G intron_variant BRCA-EU 5 36161239 36161239 single base substitution C G intron_variant BRCA-EU 5 36165765 36165765 deletion of <=200bp T - intron_variant BRCA-EU 5 36167586 36167586 single base substitution G C intron_variant BRCA-EU 5 36168372 36168372 single base substitution G A intron_variant BRCA-EU 5 36168939 36168939 single base substitution G A intron_variant BRCA-EU 5 36169126 36169126 single base substitution C T intron_variant BRCA-EU 5 36170228 36170228 single base substitution C T intron_variant BRCA-EU 5 36170238 36170238 single base substitution C T intron_variant BRCA-EU 5 36171122 36171122 single base substitution C T downstream_gene_variant BRCA-EU 5 36171122 36171122 single base substitution C T intron_variant BRCA-EU 5 36171681 36171681 single base substitution G A downstream_gene_variant BRCA-EU 5 36171681 36171681 single base substitution G A intron_variant BRCA-EU 5 36171712 36171712 single base substitution G T 3_prime_UTR_variant BRCA-EU 5 36171712 36171712 single base substitution G T downstream_gene_variant BRCA-EU 5 36171712 36171712 single base substitution G T intron_variant BRCA-EU 5 36171712 36171712 single base substitution G T stop_gained E215* 643G>T BRCA-EU 5 36171712 36171712 single base substitution G T stop_gained E260* 778G>T BRCA-EU 5 36171712 36171712 single base substitution G T stop_gained E46* 136G>T BRCA-EU 5 36173006 36173006 single base substitution C G downstream_gene_variant BRCA-EU 5 36173006 36173006 single base substitution C G intron_variant BRCA-EU 5 36173480 36173480 single base substitution C T downstream_gene_variant BRCA-EU 5 36173480 36173480 single base substitution C T intron_variant BRCA-EU 5 36174941 36174941 single base substitution C A downstream_gene_variant BRCA-EU 5 36174941 36174941 single base substitution C A intron_variant BRCA-EU 5 36175473 36175473 single base substitution G A downstream_gene_variant BRCA-EU 5 36175473 36175473 single base substitution G A intron_variant BRCA-EU 5 36176052 36176052 single base substitution A T downstream_gene_variant BRCA-EU 5 36176052 36176052 single base substitution A T intron_variant BRCA-EU 5 36176212 36176212 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 36176212 36176212 insertion of <=200bp - T intron_variant BRCA-EU 5 36177128 36177128 single base substitution T C intron_variant BRCA-EU 5 36177164 36177164 single base substitution G A intron_variant BRCA-EU 5 36177384 36177384 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 36177384 36177384 single base substitution G C missense_variant E137Q 409G>C BRCA-EU 5 36177384 36177384 single base substitution G C missense_variant E144Q 430G>C BRCA-EU 5 36177384 36177384 single base substitution G C missense_variant E351Q 1051G>C BRCA-EU 5 36177557 36177557 single base substitution G C intron_variant BRCA-EU 5 36177999 36177999 single base substitution G T intron_variant BRCA-EU 5 36178626 36178626 single base substitution A G intron_variant BRCA-EU 5 36180392 36180392 single base substitution G C intron_variant BRCA-EU 5 36183217 36183217 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 36183217 36183217 single base substitution A G downstream_gene_variant BRCA-EU 5 36183217 36183217 single base substitution A G intron_variant BRCA-EU 5 36183569 36183569 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 36183569 36183569 single base substitution C T downstream_gene_variant BRCA-EU 5 36183569 36183569 single base substitution C T intron_variant BRCA-EU 5 36183717 36183717 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 36183717 36183717 single base substitution G C downstream_gene_variant BRCA-EU 5 36183717 36183717 single base substitution G C intron_variant BRCA-EU 5 36183720 36183720 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 36183720 36183720 single base substitution C T downstream_gene_variant BRCA-EU 5 36183720 36183720 single base substitution C T intron_variant BRCA-EU 5 36183832 36183832 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 36183832 36183832 single base substitution C T downstream_gene_variant BRCA-EU 5 36183832 36183832 single base substitution C T intron_variant BRCA-EU 5 36184871 36184871 single base substitution T C downstream_gene_variant BRCA-EU 5 36186911 36186911 single base substitution G A downstream_gene_variant BRCA-EU 5 36186942 36186942 single base substitution C A downstream_gene_variant BRCA-EU 5 36187156 36187156 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 36188812 36188812 single base substitution C T downstream_gene_variant BRCA-EU 5 36189277 36189277 single base substitution C G downstream_gene_variant BRCA-EU 5 36189367 36189367 single base substitution G A downstream_gene_variant BRCA-FR 5 36148844 36148844 single base substitution C G upstream_gene_variant BRCA-FR 5 36149791 36149791 single base substitution C G upstream_gene_variant BRCA-FR 5 36152958 36152958 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 5 36152958 36152958 single base substitution C T exon_variant BRCA-FR 5 36152958 36152958 single base substitution C T synonymous_variant L32L 94C>T BRCA-FR 5 36152958 36152958 single base substitution C T upstream_gene_variant BRCA-FR 5 36162836 36162836 single base substitution A G intron_variant BRCA-FR 5 36172893 36172893 single base substitution G C downstream_gene_variant BRCA-FR 5 36172893 36172893 single base substitution G C intron_variant BRCA-FR 5 36173006 36173006 single base substitution C G downstream_gene_variant BRCA-FR 5 36173006 36173006 single base substitution C G intron_variant BRCA-FR 5 36177557 36177557 single base substitution G C intron_variant BRCA-FR 5 36183898 36183898 single base substitution A G 3_prime_UTR_variant BRCA-FR 5 36183898 36183898 single base substitution A G downstream_gene_variant BRCA-FR 5 36183898 36183898 single base substitution A G intron_variant BRCA-FR 5 36188812 36188812 single base substitution C T downstream_gene_variant BRCA-UK 5 36152983 36152983 single base substitution C T 5_prime_UTR_variant BRCA-UK 5 36152983 36152983 single base substitution C T exon_variant BRCA-UK 5 36152983 36152983 single base substitution C T missense_variant A40V 119C>T BRCA-UK 5 36152983 36152983 single base substitution C T upstream_gene_variant BRCA-UK 5 36184804 36184804 single base substitution G A downstream_gene_variant BRCA-UK 5 36186708 36186708 single base substitution G A downstream_gene_variant BRCA-US 5 36152892 36152892 single base substitution C A 5_prime_UTR_variant BRCA-US 5 36152892 36152892 single base substitution C A exon_variant BRCA-US 5 36152892 36152892 single base substitution C A missense_variant P10T 28C>A BRCA-US 5 36152892 36152892 single base substitution C A upstream_gene_variant BRCA-US 5 36177372 36177372 single base substitution G C 3_prime_UTR_variant BRCA-US 5 36177372 36177372 single base substitution G C missense_variant D133H 397G>C BRCA-US 5 36177372 36177372 single base substitution G C missense_variant D140H 418G>C BRCA-US 5 36177372 36177372 single base substitution G C missense_variant D347H 1039G>C BTCA-JP 5 36166843 36166843 single base substitution C T intron_variant BTCA-JP 5 36177541 36177541 single base substitution G C intron_variant CESC-US 5 36183987 36183987 single base substitution C T 3_prime_UTR_variant CESC-US 5 36183987 36183987 single base substitution C T downstream_gene_variant CESC-US 5 36183987 36183987 single base substitution C T synonymous_variant I369I 1107C>T CLLE-ES 5 36156349 36156349 single base substitution G A intron_variant COAD-US 5 36168445 36168445 single base substitution G A 3_prime_UTR_variant COAD-US 5 36168445 36168445 single base substitution G A intron_variant COAD-US 5 36168445 36168445 single base substitution G A synonymous_variant S189S 567G>A COAD-US 5 36170475 36170475 single base substitution G A 3_prime_UTR_variant COAD-US 5 36170475 36170475 single base substitution G A intron_variant COAD-US 5 36170475 36170475 single base substitution G A missense_variant R189Q 566G>A COAD-US 5 36170475 36170475 single base substitution G A missense_variant R20Q 59G>A COAD-US 5 36170475 36170475 single base substitution G A missense_variant R234Q 701G>A COCA-CN 5 36151486 36151486 single base substitution A G upstream_gene_variant COCA-CN 5 36163825 36163825 single base substitution T C exon_variant COCA-CN 5 36163825 36163825 single base substitution T C intron_variant COCA-CN 5 36163825 36163825 single base substitution T C missense_variant V120A 359T>C EOPC-DE 5 36167519 36167519 single base substitution C T intron_variant ESAD-UK 5 36148051 36148051 single base substitution T G upstream_gene_variant ESAD-UK 5 36151578 36151578 single base substitution C A upstream_gene_variant ESAD-UK 5 36151942 36151942 single base substitution C G upstream_gene_variant ESAD-UK 5 36156416 36156416 single base substitution A T intron_variant ESAD-UK 5 36156432 36156432 single base substitution A T intron_variant ESAD-UK 5 36160772 36160772 single base substitution G T intron_variant ESAD-UK 5 36161316 36161316 single base substitution G A intron_variant ESAD-UK 5 36161492 36161492 single base substitution T C intron_variant ESAD-UK 5 36161703 36161703 single base substitution G C intron_variant ESAD-UK 5 36163002 36163002 single base substitution G T intron_variant ESAD-UK 5 36163909 36163909 single base substitution A C intron_variant ESAD-UK 5 36164173 36164173 single base substitution G A intron_variant ESAD-UK 5 36164592 36164592 single base substitution C A intron_variant ESAD-UK 5 36165511 36165511 single base substitution C T intron_variant ESAD-UK 5 36166284 36166284 single base substitution G T intron_variant ESAD-UK 5 36167845 36167845 single base substitution G A intron_variant ESAD-UK 5 36169557 36169557 single base substitution T A intron_variant ESAD-UK 5 36169558 36169558 single base substitution A T intron_variant ESAD-UK 5 36170931 36170931 single base substitution A T downstream_gene_variant ESAD-UK 5 36170931 36170931 single base substitution A T intron_variant ESAD-UK 5 36173461 36173461 single base substitution A G downstream_gene_variant ESAD-UK 5 36173461 36173461 single base substitution A G intron_variant ESAD-UK 5 36175318 36175318 single base substitution T A downstream_gene_variant ESAD-UK 5 36175318 36175318 single base substitution T A intron_variant ESAD-UK 5 36175360 36175360 single base substitution G A downstream_gene_variant ESAD-UK 5 36175360 36175360 single base substitution G A intron_variant ESAD-UK 5 36176022 36176022 single base substitution A G downstream_gene_variant ESAD-UK 5 36176022 36176022 single base substitution A G intron_variant ESAD-UK 5 36176826 36176826 single base substitution G T downstream_gene_variant ESAD-UK 5 36176826 36176826 single base substitution G T intron_variant ESAD-UK 5 36176979 36176979 single base substitution C T intron_variant ESAD-UK 5 36178247 36178247 single base substitution T G intron_variant ESAD-UK 5 36179501 36179501 single base substitution T C intron_variant ESAD-UK 5 36180437 36180437 single base substitution C T intron_variant ESAD-UK 5 36181249 36181249 insertion of <=200bp - A intron_variant ESAD-UK 5 36182858 36182858 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 36182858 36182858 single base substitution A G downstream_gene_variant ESAD-UK 5 36182858 36182858 single base substitution A G intron_variant ESAD-UK 5 36183946 36183946 single base substitution G C 3_prime_UTR_variant ESAD-UK 5 36183946 36183946 single base substitution G C downstream_gene_variant ESAD-UK 5 36183946 36183946 single base substitution G C missense_variant V356L 1066G>C ESAD-UK 5 36184181 36184181 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 36184181 36184181 single base substitution T C downstream_gene_variant ESAD-UK 5 36185853 36185853 single base substitution C T downstream_gene_variant ESAD-UK 5 36187304 36187304 insertion of <=200bp - ATTTTTTGAA downstream_gene_variant ESAD-UK 5 36188163 36188163 insertion of <=200bp - T downstream_gene_variant ESCA-CN 5 36166762 36166762 single base substitution C G intron_variant ESCA-CN 5 36166762 36166762 single base substitution C G missense_variant F178L 534C>G ESCA-CN 5 36166762 36166762 single base substitution C G missense_variant F9L 27C>G ESCA-CN 5 36166762 36166762 single base substitution C G splice_region_variant GBM-US 5 36171807 36171807 single base substitution C A 3_prime_UTR_variant GBM-US 5 36171807 36171807 single base substitution C A downstream_gene_variant GBM-US 5 36171807 36171807 single base substitution C A intron_variant GBM-US 5 36171807 36171807 single base substitution C A missense_variant S246R 738C>A GBM-US 5 36171807 36171807 single base substitution C A missense_variant S291R 873C>A GBM-US 5 36171807 36171807 single base substitution C A missense_variant S77R 231C>A KIRC-US 5 36177323 36177323 single base substitution A T 3_prime_UTR_variant KIRC-US 5 36177323 36177323 single base substitution A T missense_variant E116D 348A>T KIRC-US 5 36177323 36177323 single base substitution A T missense_variant E123D 369A>T KIRC-US 5 36177323 36177323 single base substitution A T missense_variant E330D 990A>T LAML-CN 5 36171760 36171760 single base substitution G A 3_prime_UTR_variant LAML-CN 5 36171760 36171760 single base substitution G A downstream_gene_variant LAML-CN 5 36171760 36171760 single base substitution G A intron_variant LAML-CN 5 36171760 36171760 single base substitution G A missense_variant V231M 691G>A LAML-CN 5 36171760 36171760 single base substitution G A missense_variant V276M 826G>A LAML-CN 5 36171760 36171760 single base substitution G A missense_variant V62M 184G>A LAML-KR 5 36166843 36166843 single base substitution C T intron_variant LGG-US 5 36152899 36152899 single base substitution T A 5_prime_UTR_variant LGG-US 5 36152899 36152899 single base substitution T A exon_variant LGG-US 5 36152899 36152899 single base substitution T A missense_variant L12Q 35T>A LGG-US 5 36152899 36152899 single base substitution T A upstream_gene_variant LICA-FR 5 36148270 36148270 single base substitution T C upstream_gene_variant LICA-FR 5 36161872 36161872 single base substitution A G intron_variant LICA-FR 5 36166629 36166629 single base substitution A T 5_prime_UTR_variant LICA-FR 5 36166629 36166629 single base substitution A T exon_variant LICA-FR 5 36166629 36166629 single base substitution A T intron_variant LICA-FR 5 36166629 36166629 single base substitution A T missense_variant E134V 401A>T LICA-FR 5 36166911 36166911 single base substitution A G intron_variant LICA-FR 5 36170698 36170698 single base substitution G T downstream_gene_variant LICA-FR 5 36170698 36170698 single base substitution G T intron_variant LIHC-US 5 36152875 36152875 single base substitution A G missense_variant K4R 11A>G LIHC-US 5 36152875 36152875 single base substitution A G splice_region_variant LIHC-US 5 36152875 36152875 single base substitution A G upstream_gene_variant LINC-JP 5 36152283 36152283 single base substitution C A 5_prime_UTR_variant LINC-JP 5 36152283 36152283 single base substitution C A upstream_gene_variant LINC-JP 5 36152361 36152361 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 5 36152361 36152361 single base substitution C T upstream_gene_variant LINC-JP 5 36153010 36153010 single base substitution A T 5_prime_UTR_variant LINC-JP 5 36153010 36153010 single base substitution A T exon_variant LINC-JP 5 36153010 36153010 single base substitution A T missense_variant E49V 146A>T LINC-JP 5 36153010 36153010 single base substitution A T upstream_gene_variant LINC-JP 5 36153030 36153030 single base substitution C A 5_prime_UTR_variant LINC-JP 5 36153030 36153030 single base substitution C A exon_variant LINC-JP 5 36153030 36153030 single base substitution C A missense_variant L56I 166C>A LINC-JP 5 36153030 36153030 single base substitution C A upstream_gene_variant LINC-JP 5 36153453 36153453 single base substitution C T intron_variant LINC-JP 5 36160609 36160609 single base substitution G T intron_variant LINC-JP 5 36163912 36163912 single base substitution T G intron_variant LINC-JP 5 36166396 36166396 single base substitution A G intron_variant LINC-JP 5 36166843 36166843 single base substitution C T intron_variant LINC-JP 5 36170573 36170573 single base substitution A G downstream_gene_variant LINC-JP 5 36170573 36170573 single base substitution A G intron_variant LINC-JP 5 36178015 36178015 single base substitution C T intron_variant LINC-JP 5 36180294 36180294 deletion of <=200bp C - intron_variant LINC-JP 5 36181249 36181249 deletion of <=200bp A - intron_variant LINC-JP 5 36183971 36183971 single base substitution G C 3_prime_UTR_variant LINC-JP 5 36183971 36183971 single base substitution G C downstream_gene_variant LINC-JP 5 36183971 36183971 single base substitution G C missense_variant R364P 1091G>C LIRI-JP 5 36147885 36147885 single base substitution C T upstream_gene_variant LIRI-JP 5 36148946 36148946 single base substitution T C upstream_gene_variant LIRI-JP 5 36149528 36149528 single base substitution T C upstream_gene_variant LIRI-JP 5 36150181 36150181 single base substitution A G upstream_gene_variant LIRI-JP 5 36152003 36152003 single base substitution C T upstream_gene_variant LIRI-JP 5 36154092 36154092 single base substitution G A intron_variant LIRI-JP 5 36154313 36154313 single base substitution A G intron_variant LIRI-JP 5 36155531 36155531 single base substitution A G intron_variant LIRI-JP 5 36156203 36156203 deletion of <=200bp T - intron_variant LIRI-JP 5 36156968 36156968 single base substitution G C intron_variant LIRI-JP 5 36160181 36160181 single base substitution A C intron_variant LIRI-JP 5 36160192 36160192 single base substitution T G intron_variant LIRI-JP 5 36161077 36161077 single base substitution A G intron_variant LIRI-JP 5 36161151 36161151 single base substitution C T intron_variant LIRI-JP 5 36162558 36162558 single base substitution C T intron_variant LIRI-JP 5 36165305 36165305 single base substitution G T intron_variant LIRI-JP 5 36166994 36166994 single base substitution G A intron_variant LIRI-JP 5 36167585 36167585 single base substitution A C intron_variant LIRI-JP 5 36170745 36170745 single base substitution A G downstream_gene_variant LIRI-JP 5 36170745 36170745 single base substitution A G intron_variant LIRI-JP 5 36175035 36175035 single base substitution C A downstream_gene_variant LIRI-JP 5 36175035 36175035 single base substitution C A intron_variant LIRI-JP 5 36177259 36177259 single base substitution A G intron_variant LIRI-JP 5 36177837 36177852 deletion of <=200bp CTGGATAGTGAAGAAA - intron_variant LIRI-JP 5 36178121 36178121 single base substitution C G intron_variant LIRI-JP 5 36178536 36178536 single base substitution T C intron_variant LIRI-JP 5 36178808 36178808 single base substitution C T intron_variant LIRI-JP 5 36179891 36179891 single base substitution G T intron_variant LIRI-JP 5 36180161 36180161 single base substitution C T intron_variant LIRI-JP 5 36181406 36181406 single base substitution T C intron_variant LIRI-JP 5 36184553 36184553 single base substitution C G downstream_gene_variant LIRI-JP 5 36188900 36188900 single base substitution T C downstream_gene_variant LUSC-KR 5 36154045 36154045 single base substitution A C intron_variant LUSC-KR 5 36155445 36155445 single base substitution G T intron_variant LUSC-KR 5 36156748 36156748 single base substitution G T intron_variant LUSC-KR 5 36162032 36162032 single base substitution A T intron_variant LUSC-KR 5 36162940 36162940 single base substitution G A intron_variant LUSC-KR 5 36169401 36169401 single base substitution G C intron_variant LUSC-KR 5 36171987 36171987 single base substitution G C downstream_gene_variant LUSC-KR 5 36171987 36171987 single base substitution G C intron_variant LUSC-KR 5 36174780 36174780 single base substitution G A downstream_gene_variant LUSC-KR 5 36174780 36174780 single base substitution G A intron_variant LUSC-KR 5 36175886 36175886 single base substitution G T downstream_gene_variant LUSC-KR 5 36175886 36175886 single base substitution G T intron_variant LUSC-KR 5 36178866 36178866 single base substitution G T intron_variant LUSC-KR 5 36179861 36179861 single base substitution G A intron_variant LUSC-KR 5 36183870 36183870 single base substitution C A 3_prime_UTR_variant LUSC-KR 5 36183870 36183870 single base substitution C A downstream_gene_variant LUSC-KR 5 36183870 36183870 single base substitution C A intron_variant LUSC-KR 5 36183881 36183881 single base substitution G T 3_prime_UTR_variant LUSC-KR 5 36183881 36183881 single base substitution G T downstream_gene_variant LUSC-KR 5 36183881 36183881 single base substitution G T intron_variant LUSC-KR 5 36183898 36183898 single base substitution A G 3_prime_UTR_variant LUSC-KR 5 36183898 36183898 single base substitution A G downstream_gene_variant LUSC-KR 5 36183898 36183898 single base substitution A G intron_variant LUSC-KR 5 36183925 36183925 single base substitution G A 3_prime_UTR_variant LUSC-KR 5 36183925 36183925 single base substitution G A downstream_gene_variant LUSC-KR 5 36183925 36183925 single base substitution G A intron_variant LUSC-KR 5 36185123 36185123 single base substitution G C downstream_gene_variant LUSC-US 5 36168476 36168476 single base substitution G T 3_prime_UTR_variant LUSC-US 5 36168476 36168476 single base substitution G T intron_variant LUSC-US 5 36168476 36168476 single base substitution G T missense_variant G200C 598G>T LUSC-US 5 36168477 36168477 single base substitution G A 3_prime_UTR_variant LUSC-US 5 36168477 36168477 single base substitution G A intron_variant LUSC-US 5 36168477 36168477 single base substitution G A missense_variant G200D 599G>A MALY-DE 5 36149683 36149683 single base substitution C T upstream_gene_variant MALY-DE 5 36156088 36156088 single base substitution C A intron_variant MALY-DE 5 36156499 36156499 single base substitution G C intron_variant MALY-DE 5 36158363 36158363 single base substitution G A intron_variant MALY-DE 5 36166357 36166357 single base substitution G A intron_variant MALY-DE 5 36169571 36169571 single base substitution G A intron_variant MALY-DE 5 36170311 36170311 single base substitution G A intron_variant MALY-DE 5 36174417 36174417 single base substitution T C downstream_gene_variant MALY-DE 5 36174417 36174417 single base substitution T C intron_variant MALY-DE 5 36175320 36175320 single base substitution C T downstream_gene_variant MALY-DE 5 36175320 36175320 single base substitution C T intron_variant MALY-DE 5 36185636 36185636 deletion of <=200bp G - downstream_gene_variant MELA-AU 5 36147162 36147162 single base substitution T C upstream_gene_variant MELA-AU 5 36147815 36147815 single base substitution A C upstream_gene_variant MELA-AU 5 36148526 36148526 single base substitution G A upstream_gene_variant MELA-AU 5 36148644 36148644 single base substitution G A upstream_gene_variant MELA-AU 5 36149380 36149386 deletion of <=200bp TAAGGGT - upstream_gene_variant MELA-AU 5 36149879 36149879 single base substitution A G upstream_gene_variant MELA-AU 5 36149903 36149903 single base substitution G A upstream_gene_variant MELA-AU 5 36150303 36150303 single base substitution C T upstream_gene_variant MELA-AU 5 36150640 36150640 single base substitution T C upstream_gene_variant MELA-AU 5 36151728 36151728 single base substitution G A upstream_gene_variant MELA-AU 5 36152673 36152673 single base substitution G A intron_variant MELA-AU 5 36152673 36152673 single base substitution G A upstream_gene_variant MELA-AU 5 36153243 36153243 single base substitution T C intron_variant MELA-AU 5 36153781 36153781 single base substitution C T intron_variant MELA-AU 5 36154606 36154606 single base substitution G A intron_variant MELA-AU 5 36154841 36154841 single base substitution C T intron_variant MELA-AU 5 36154993 36154993 single base substitution C T intron_variant MELA-AU 5 36155176 36155176 single base substitution C T intron_variant MELA-AU 5 36155262 36155262 single base substitution G A intron_variant MELA-AU 5 36155315 36155315 single base substitution C T intron_variant MELA-AU 5 36155357 36155357 single base substitution T A intron_variant MELA-AU 5 36155529 36155529 single base substitution T A intron_variant MELA-AU 5 36155872 36155872 single base substitution G A intron_variant MELA-AU 5 36157415 36157415 single base substitution C T intron_variant MELA-AU 5 36158343 36158343 single base substitution C T intron_variant MELA-AU 5 36160917 36160917 single base substitution G A intron_variant MELA-AU 5 36161029 36161029 single base substitution C T intron_variant MELA-AU 5 36161279 36161279 single base substitution T G intron_variant MELA-AU 5 36161346 36161346 single base substitution G A intron_variant MELA-AU 5 36161375 36161375 single base substitution C T intron_variant MELA-AU 5 36161777 36161777 single base substitution G A intron_variant MELA-AU 5 36161848 36161848 single base substitution C T intron_variant MELA-AU 5 36161965 36161965 single base substitution C T intron_variant MELA-AU 5 36163723 36163723 single base substitution C A intron_variant MELA-AU 5 36164077 36164077 single base substitution C T intron_variant MELA-AU 5 36164321 36164321 single base substitution C T intron_variant MELA-AU 5 36165446 36165446 single base substitution C T intron_variant MELA-AU 5 36165511 36165511 single base substitution C T intron_variant MELA-AU 5 36166008 36166008 single base substitution T A intron_variant MELA-AU 5 36166173 36166173 single base substitution C T intron_variant MELA-AU 5 36166254 36166254 single base substitution C T intron_variant MELA-AU 5 36166423 36166423 single base substitution C T intron_variant MELA-AU 5 36166465 36166465 single base substitution C T intron_variant MELA-AU 5 36166780 36166780 single base substitution C T intron_variant MELA-AU 5 36167240 36167240 single base substitution G T intron_variant MELA-AU 5 36167375 36167375 deletion of <=200bp T - intron_variant MELA-AU 5 36167487 36167487 single base substitution C T intron_variant MELA-AU 5 36167631 36167631 single base substitution C T intron_variant MELA-AU 5 36167672 36167672 single base substitution C T intron_variant MELA-AU 5 36167772 36167772 single base substitution G A intron_variant MELA-AU 5 36167947 36167947 single base substitution C T intron_variant MELA-AU 5 36167955 36167955 single base substitution C T intron_variant MELA-AU 5 36168955 36168955 single base substitution C T intron_variant MELA-AU 5 36169345 36169345 single base substitution G T intron_variant MELA-AU 5 36170578 36170578 single base substitution T G downstream_gene_variant MELA-AU 5 36170578 36170578 single base substitution T G intron_variant MELA-AU 5 36170755 36170755 single base substitution C T downstream_gene_variant MELA-AU 5 36170755 36170755 single base substitution C T intron_variant MELA-AU 5 36171613 36171613 single base substitution C T downstream_gene_variant MELA-AU 5 36171613 36171613 single base substitution C T intron_variant MELA-AU 5 36171887 36171887 single base substitution G C downstream_gene_variant MELA-AU 5 36171887 36171887 single base substitution G C intron_variant MELA-AU 5 36172039 36172039 single base substitution C T downstream_gene_variant MELA-AU 5 36172039 36172039 single base substitution C T intron_variant MELA-AU 5 36172186 36172186 single base substitution G A downstream_gene_variant MELA-AU 5 36172186 36172186 single base substitution G A intron_variant MELA-AU 5 36172385 36172402 deletion of <=200bp TAAGTTCATATTTATGAC - downstream_gene_variant MELA-AU 5 36172385 36172402 deletion of <=200bp TAAGTTCATATTTATGAC - intron_variant MELA-AU 5 36172598 36172598 single base substitution C T downstream_gene_variant MELA-AU 5 36172598 36172598 single base substitution C T intron_variant MELA-AU 5 36173138 36173138 single base substitution C T downstream_gene_variant MELA-AU 5 36173138 36173138 single base substitution C T intron_variant MELA-AU 5 36173923 36173923 single base substitution C T downstream_gene_variant MELA-AU 5 36173923 36173923 single base substitution C T intron_variant MELA-AU 5 36174237 36174237 single base substitution G A downstream_gene_variant MELA-AU 5 36174237 36174237 single base substitution G A intron_variant MELA-AU 5 36174412 36174412 single base substitution G A downstream_gene_variant MELA-AU 5 36174412 36174412 single base substitution G A intron_variant MELA-AU 5 36174607 36174607 single base substitution C T downstream_gene_variant MELA-AU 5 36174607 36174607 single base substitution C T intron_variant MELA-AU 5 36175008 36175008 single base substitution G A downstream_gene_variant MELA-AU 5 36175008 36175008 single base substitution G A intron_variant MELA-AU 5 36175595 36175595 single base substitution A T downstream_gene_variant MELA-AU 5 36175595 36175595 single base substitution A T intron_variant MELA-AU 5 36175708 36175708 single base substitution C T downstream_gene_variant MELA-AU 5 36175708 36175708 single base substitution C T intron_variant MELA-AU 5 36175786 36175786 single base substitution G A downstream_gene_variant MELA-AU 5 36175786 36175786 single base substitution G A intron_variant MELA-AU 5 36176465 36176465 single base substitution C T downstream_gene_variant MELA-AU 5 36176465 36176465 single base substitution C T intron_variant MELA-AU 5 36176802 36176802 single base substitution T A downstream_gene_variant MELA-AU 5 36176802 36176802 single base substitution T A intron_variant MELA-AU 5 36177180 36177180 single base substitution G T intron_variant MELA-AU 5 36177240 36177240 single base substitution G C intron_variant MELA-AU 5 36177326 36177326 single base substitution T C 3_prime_UTR_variant MELA-AU 5 36177326 36177326 single base substitution T C synonymous_variant F117F 351T>C MELA-AU 5 36177326 36177326 single base substitution T C synonymous_variant F124F 372T>C MELA-AU 5 36177326 36177326 single base substitution T C synonymous_variant F331F 993T>C MELA-AU 5 36177766 36177766 single base substitution C T intron_variant MELA-AU 5 36178644 36178644 single base substitution T C intron_variant MELA-AU 5 36178679 36178679 single base substitution C T intron_variant MELA-AU 5 36178763 36178763 single base substitution C T intron_variant MELA-AU 5 36179605 36179605 single base substitution G A intron_variant MELA-AU 5 36179629 36179629 single base substitution C T intron_variant MELA-AU 5 36179642 36179642 single base substitution C T intron_variant MELA-AU 5 36179709 36179709 single base substitution G A intron_variant MELA-AU 5 36179943 36179943 single base substitution C T intron_variant MELA-AU 5 36180540 36180540 single base substitution G A intron_variant MELA-AU 5 36180797 36180797 single base substitution G A intron_variant MELA-AU 5 36181316 36181317 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 36183131 36183131 single base substitution T C 3_prime_UTR_variant MELA-AU 5 36183131 36183131 single base substitution T C downstream_gene_variant MELA-AU 5 36183131 36183131 single base substitution T C intron_variant MELA-AU 5 36183399 36183399 single base substitution C T 3_prime_UTR_variant MELA-AU 5 36183399 36183399 single base substitution C T downstream_gene_variant MELA-AU 5 36183399 36183399 single base substitution C T intron_variant MELA-AU 5 36183464 36183464 single base substitution G A 3_prime_UTR_variant MELA-AU 5 36183464 36183464 single base substitution G A downstream_gene_variant MELA-AU 5 36183464 36183464 single base substitution G A intron_variant MELA-AU 5 36183492 36183492 single base substitution C T 3_prime_UTR_variant MELA-AU 5 36183492 36183492 single base substitution C T downstream_gene_variant MELA-AU 5 36183492 36183492 single base substitution C T intron_variant MELA-AU 5 36183720 36183720 single base substitution C T 3_prime_UTR_variant MELA-AU 5 36183720 36183720 single base substitution C T downstream_gene_variant MELA-AU 5 36183720 36183720 single base substitution C T intron_variant MELA-AU 5 36185033 36185033 single base substitution C T downstream_gene_variant MELA-AU 5 36186105 36186105 single base substitution C T downstream_gene_variant MELA-AU 5 36186642 36186642 single base substitution G A downstream_gene_variant MELA-AU 5 36186988 36186988 single base substitution G T downstream_gene_variant MELA-AU 5 36187284 36187284 single base substitution A G downstream_gene_variant MELA-AU 5 36187368 36187368 single base substitution C T downstream_gene_variant MELA-AU 5 36188903 36188903 single base substitution C T downstream_gene_variant MELA-AU 5 36189102 36189102 single base substitution C T downstream_gene_variant MELA-AU 5 36189397 36189397 single base substitution G T downstream_gene_variant ORCA-IN 5 36153342 36153342 single base substitution A G intron_variant ORCA-IN 5 36164756 36164756 single base substitution G T intron_variant ORCA-IN 5 36179028 36179028 single base substitution A G intron_variant OV-AU 5 36156082 36156082 single base substitution A G intron_variant OV-AU 5 36175124 36175124 single base substitution C G downstream_gene_variant OV-AU 5 36175124 36175124 single base substitution C G intron_variant OV-AU 5 36179121 36179121 single base substitution A C intron_variant OV-US 5 36180378 36180378 single base substitution G A intron_variant PACA-AU 5 36172213 36172213 single base substitution T C downstream_gene_variant PACA-AU 5 36172213 36172213 single base substitution T C intron_variant PACA-AU 5 36173529 36173529 single base substitution A T downstream_gene_variant PACA-AU 5 36173529 36173529 single base substitution A T intron_variant PACA-AU 5 36174090 36174090 single base substitution T A downstream_gene_variant PACA-AU 5 36174090 36174090 single base substitution T A intron_variant PACA-AU 5 36177568 36177568 single base substitution G C intron_variant PACA-AU 5 36178743 36178743 single base substitution T A intron_variant PACA-AU 5 36179159 36179159 single base substitution A G intron_variant PACA-AU 5 36187659 36187659 single base substitution T G downstream_gene_variant PACA-CA 5 36149052 36149052 single base substitution T C upstream_gene_variant PACA-CA 5 36150879 36150879 single base substitution G T upstream_gene_variant PACA-CA 5 36162604 36162604 single base substitution T A intron_variant PACA-CA 5 36165833 36165833 single base substitution G T intron_variant PACA-CA 5 36166381 36166381 single base substitution C G intron_variant PACA-CA 5 36170861 36170861 single base substitution T C downstream_gene_variant PACA-CA 5 36170861 36170861 single base substitution T C intron_variant PACA-CA 5 36174907 36174907 single base substitution C A downstream_gene_variant PACA-CA 5 36174907 36174907 single base substitution C A intron_variant PACA-CA 5 36175174 36175174 single base substitution G A downstream_gene_variant PACA-CA 5 36175174 36175174 single base substitution G A intron_variant PACA-CA 5 36176336 36176336 single base substitution T A downstream_gene_variant PACA-CA 5 36176336 36176336 single base substitution T A intron_variant PACA-CA 5 36187725 36187725 single base substitution T G downstream_gene_variant PACA-CA 5 36188403 36188403 single base substitution G A downstream_gene_variant PAEN-AU 5 36161503 36161503 single base substitution G T intron_variant PAEN-AU 5 36174294 36174294 single base substitution C T downstream_gene_variant PAEN-AU 5 36174294 36174294 single base substitution C T intron_variant PAEN-IT 5 36182736 36182736 single base substitution G T 3_prime_UTR_variant PAEN-IT 5 36182736 36182736 single base substitution G T downstream_gene_variant PAEN-IT 5 36182736 36182736 single base substitution G T intron_variant PBCA-DE 5 36159105 36159105 deletion of <=200bp C - intron_variant PBCA-DE 5 36175091 36175091 single base substitution A G downstream_gene_variant PBCA-DE 5 36175091 36175091 single base substitution A G intron_variant PBCA-DE 5 36175729 36175729 single base substitution T G downstream_gene_variant PBCA-DE 5 36175729 36175729 single base substitution T G intron_variant PBCA-DE 5 36178322 36178322 single base substitution C T intron_variant PRAD-CA 5 36155161 36155161 single base substitution C A intron_variant PRAD-CA 5 36173275 36173275 single base substitution A C downstream_gene_variant PRAD-CA 5 36173275 36173275 single base substitution A C intron_variant PRAD-UK 5 36162682 36162682 single base substitution A G intron_variant PRAD-UK 5 36170300 36170300 single base substitution G C intron_variant READ-US 5 36168422 36168422 single base substitution C T 3_prime_UTR_variant READ-US 5 36168422 36168422 single base substitution C T intron_variant READ-US 5 36168422 36168422 single base substitution C T missense_variant R182C 544C>T RECA-EU 5 36150079 36150079 single base substitution G A upstream_gene_variant RECA-EU 5 36154659 36154659 single base substitution C T intron_variant RECA-EU 5 36155141 36155141 single base substitution T A intron_variant RECA-EU 5 36162377 36162377 single base substitution G T intron_variant RECA-EU 5 36164272 36164272 single base substitution C T intron_variant RECA-EU 5 36166864 36166864 single base substitution A G intron_variant RECA-EU 5 36188977 36188977 single base substitution C T downstream_gene_variant SKCA-BR 5 36150838 36150838 single base substitution C T upstream_gene_variant SKCA-BR 5 36152106 36152106 single base substitution G A 5_prime_UTR_variant SKCA-BR 5 36152106 36152106 single base substitution G A upstream_gene_variant SKCA-BR 5 36156366 36156366 single base substitution C T intron_variant SKCA-BR 5 36163422 36163422 single base substitution G A intron_variant SKCA-BR 5 36171933 36171933 single base substitution T G downstream_gene_variant SKCA-BR 5 36171933 36171933 single base substitution T G intron_variant SKCA-BR 5 36174651 36174668 deletion of <=200bp ATTGAACAAAACAGAGCC - downstream_gene_variant SKCA-BR 5 36174651 36174668 deletion of <=200bp ATTGAACAAAACAGAGCC - intron_variant SKCA-BR 5 36179212 36179212 single base substitution A G intron_variant SKCA-BR 5 36180438 36180438 single base substitution G A intron_variant SKCA-BR 5 36183368 36183368 insertion of <=200bp - ATT 3_prime_UTR_variant SKCA-BR 5 36183368 36183368 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 5 36183368 36183368 insertion of <=200bp - ATT intron_variant SKCA-BR 5 36183374 36183374 single base substitution T C 3_prime_UTR_variant SKCA-BR 5 36183374 36183374 single base substitution T C downstream_gene_variant SKCA-BR 5 36183374 36183374 single base substitution T C intron_variant SKCA-BR 5 36183561 36183561 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 36183561 36183561 single base substitution G A downstream_gene_variant SKCA-BR 5 36183561 36183561 single base substitution G A intron_variant SKCA-BR 5 36183564 36183564 single base substitution T C 3_prime_UTR_variant SKCA-BR 5 36183564 36183564 single base substitution T C downstream_gene_variant SKCA-BR 5 36183564 36183564 single base substitution T C intron_variant SKCA-BR 5 36183720 36183720 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 36183720 36183720 single base substitution C T downstream_gene_variant SKCA-BR 5 36183720 36183720 single base substitution C T intron_variant SKCA-BR 5 36184477 36184477 single base substitution T C downstream_gene_variant SKCA-BR 5 36185366 36185366 single base substitution T A downstream_gene_variant SKCM-US 5 36168422 36168422 single base substitution C T 3_prime_UTR_variant SKCM-US 5 36168422 36168422 single base substitution C T intron_variant SKCM-US 5 36168422 36168422 single base substitution C T missense_variant R182C 544C>T SKCM-US 5 36181928 36181928 single base substitution G A 3_prime_UTR_variant SKCM-US 5 36181928 36181928 single base substitution G A intron_variant SKCM-US 5 36181928 36181928 single base substitution G A missense_variant G143E 428G>A SKCM-US 5 36181928 36181928 single base substitution G A missense_variant G150E 449G>A SKCM-US 5 36181928 36181928 single base substitution G A missense_variant G357E 1070G>A STAD-US 5 36153144 36153144 single base substitution G T missense_variant D94Y 280G>T STAD-US 5 36153144 36153144 single base substitution G T missense_variant G94C 280G>T STAD-US 5 36153144 36153144 single base substitution G T splice_region_variant STAD-US 5 36166751 36166751 single base substitution G A 3_prime_UTR_variant STAD-US 5 36166751 36166751 single base substitution G A intron_variant STAD-US 5 36166751 36166751 single base substitution G A missense_variant A175T 523G>A STAD-US 5 36166751 36166751 single base substitution G A missense_variant A6T 16G>A STAD-US 5 36168477 36168477 single base substitution G A 3_prime_UTR_variant STAD-US 5 36168477 36168477 single base substitution G A intron_variant STAD-US 5 36168477 36168477 single base substitution G A missense_variant G200D 599G>A STAD-US 5 36182033 36182033 single base substitution A G 3_prime_UTR_variant STAD-US 5 36182033 36182033 single base substitution A G intron_variant STAD-US 5 36182033 36182033 single base substitution A G missense_variant H178R 533A>G STAD-US 5 36182033 36182033 single base substitution A G missense_variant H185R 554A>G STAD-US 5 36182033 36182033 single base substitution A G missense_variant H392R 1175A>G STAD-US 5 36182090 36182090 single base substitution G A 3_prime_UTR_variant STAD-US 5 36182090 36182090 single base substitution G A intron_variant STAD-US 5 36182090 36182090 single base substitution G A missense_variant G197D 590G>A STAD-US 5 36182090 36182090 single base substitution G A missense_variant G204D 611G>A STAD-US 5 36182090 36182090 single base substitution G A missense_variant G411D 1232G>A UCEC-US 5 36166689 36166689 single base substitution G A 3_prime_UTR_variant UCEC-US 5 36166689 36166689 single base substitution G A 5_prime_UTR_variant UCEC-US 5 36166689 36166689 single base substitution G A intron_variant UCEC-US 5 36166689 36166689 single base substitution G A missense_variant R154Q 461G>A UCEC-US 5 36168422 36168422 single base substitution C T 3_prime_UTR_variant UCEC-US 5 36168422 36168422 single base substitution C T intron_variant UCEC-US 5 36168422 36168422 single base substitution C T missense_variant R182C 544C>T UCEC-US 5 36168425 36168425 single base substitution G A 3_prime_UTR_variant UCEC-US 5 36168425 36168425 single base substitution G A intron_variant UCEC-US 5 36168425 36168425 single base substitution G A missense_variant V183I 547G>A UCEC-US 5 36168528 36168528 single base substitution G A 3_prime_UTR_variant UCEC-US 5 36168528 36168528 single base substitution G A intron_variant UCEC-US 5 36168528 36168528 single base substitution G A missense_variant R217Q 650G>A UCEC-US 5 36170448 36170448 single base substitution C T intron_variant UCEC-US 5 36170448 36170448 single base substitution C T missense_variant T11I 32C>T UCEC-US 5 36170448 36170448 single base substitution C T missense_variant T180I 539C>T UCEC-US 5 36170448 36170448 single base substitution C T missense_variant T225I 674C>T UCEC-US 5 36170448 36170448 single base substitution C T splice_region_variant UCEC-US 5 36171752 36171752 single base substitution A G 3_prime_UTR_variant UCEC-US 5 36171752 36171752 single base substitution A G downstream_gene_variant UCEC-US 5 36171752 36171752 single base substitution A G intron_variant UCEC-US 5 36171752 36171752 single base substitution A G missense_variant H228R 683A>G UCEC-US 5 36171752 36171752 single base substitution A G missense_variant H273R 818A>G UCEC-US 5 36171752 36171752 single base substitution A G missense_variant H59R 176A>G UCEC-US 5 36180334 36180336 deletion of <=200bp ACA - intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Br06X COSM39467 c.503C>T p.S168L Substitution - Missense 5:36166629-36166629 + Br06X COSM39466 c.404C>T p.S135F Substitution - Missense 5:36166530-36166530 + 104104 COSM96209 c.213G>A p.K71K Substitution - coding silent 5:36152975-36152975 + TCGA-25-2400-01 COSM69291 c.902-1G>C p.? Unknown 5:36176964-36176964 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.23298;Hs.23331;Hs.23348 5p13 601436

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H273R c.818A>G 5 36171752 UCEC A T Missense p.E330D c.990A>T 5 36177323 RCCC A T Missense p.N389I c.1166A>T 5 36182024 CM A T Missense p.S27C c.79A>T 5 36152943 STAD C A Missense p.H199N c.595C>A 5 36168473 STAD C A Missense p.S291R c.873C>A 5 36171807 GBM C A Synonymous p.P421P c.1263C>A 5 36182121 BRCA C T Missense p.R182C c.544C>T 5 36168422 CM C T Missense p.S135F c.404C>T 5 36166632 GBM C T Missense p.S168L c.503C>T 5 36166731 GBM C T Nonsense p.R415* c.1243C>T 5 36182101 CM G A Missense p.G200D c.599G>A 5 36168477 LUSC G A Missense p.G357E c.1070G>A 5 36181928 CM G A Missense p.R217Q c.650G>A 5 36168528 UCEC G A Missense p.V183I c.547G>A 5 36168425 UCEC G C Missense p.D347H c.1039G>C 5 36177372 BRCA G C Missense p.D373H c.1117G>C 5 36181975 HNSC G C Missense p.E44Q c.130G>C 5 36152994 LUAD G C SpliceAcceptorSNV . c.902-1G>C 5 36177066 OV G C Synonymous p.L41L c.123G>C 5 36152987 HNSC G T 3-UTRSNV . c.1272+1841G>T 5 36183971 LUAD G T Missense p.A162S c.484G>T 5 36166712 COREAD G T Nonsense p.E381* c.1141G>T 5 36181999 HNSC G T Synonymous p.G37G c.111G>T 5 36152975 LUAD T A Missense p.L12Q c.35T>A 5 36152899 LGG T C 3-UTRSNV . c.1272+1935T>C 5 36184065 LUAD T G 3-UTRSNV . c.1272+1881T>G 5 36184011 HNSC