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 14 73404761 73404761 + Silent SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr14:73404761C>G c.75C>G c.(73-75)ctC>ctG p.L25L BLCA 14 73406954 73406954 + Missense_Mutation SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr14:73406954G>A c.220G>A c.(220-222)Gaa>Aaa p.E74K BLCA 14 73412591 73412591 + Splice_Site SNP G G C TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr14:73412591G>C c.e7-1 BLCA 14 73425341 73425341 + Missense_Mutation SNP G G A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr14:73425341G>A c.1316G>A c.(1315-1317)aGa>aAa p.R439K BRCA 14 73408476 73408476 + Silent SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr14:73408476A>T c.375A>T c.(373-375)gcA>gcT p.A125A BRCA 14 73418546 73418546 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr14:73418546A>C c.769A>C c.(769-771)Acc>Ccc p.T257P COAD 14 73404707 73404707 + Missense_Mutation SNP G G T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr14:73404707G>T c.21G>T c.(19-21)caG>caT p.Q7H COAD 14 73406561 73406561 + Silent SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr14:73406561C>T c.144C>T c.(142-144)gaC>gaT p.D48D COAD 14 73407027 73407029 + In_Frame_Del DEL AGA AGA - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr14:73407027_73407029delAGA c.293_295delAGA c.(292-297)cagaag>cag p.K99del COAD 14 73412700 73412700 + Missense_Mutation SNP T T G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr14:73412700T>G c.643T>G c.(643-645)Ttc>Gtc p.F215V COAD 14 73418582 73418582 + Missense_Mutation SNP C C T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr14:73418582C>T c.805C>T c.(805-807)Cca>Tca p.P269S COAD 14 73420934 73420934 + Missense_Mutation SNP T T C TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr14:73420934T>C c.871T>C c.(871-873)Tcc>Ccc p.S291P COAD 14 73420934 73420934 + Missense_Mutation SNP T T C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr14:73420934T>C c.871T>C c.(871-873)Tcc>Ccc p.S291P COAD 14 73425436 73425436 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr14:73425436C>T c.1411C>T c.(1411-1413)Cgg>Tgg p.R471W COAD 14 73425458 73425458 + Missense_Mutation SNP C C T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr14:73425458C>T c.1433C>T c.(1432-1434)gCg>gTg p.A478V COADREAD 14 73404707 73404707 + Missense_Mutation SNP G G T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr14:73404707G>T c.21G>T c.(19-21)caG>caT p.Q7H COADREAD 14 73406561 73406561 + Silent SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr14:73406561C>T c.144C>T c.(142-144)gaC>gaT p.D48D COADREAD 14 73407027 73407029 + In_Frame_Del DEL AGA AGA - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr14:73407027_73407029delAGA c.293_295delAGA c.(292-297)cagaag>cag p.K99del COADREAD 14 73412700 73412700 + Missense_Mutation SNP T T G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr14:73412700T>G c.643T>G c.(643-645)Ttc>Gtc p.F215V COADREAD 14 73418582 73418582 + Missense_Mutation SNP C C T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr14:73418582C>T c.805C>T c.(805-807)Cca>Tca p.P269S COADREAD 14 73420934 73420934 + Missense_Mutation SNP T T C TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr14:73420934T>C c.871T>C c.(871-873)Tcc>Ccc p.S291P COADREAD 14 73420934 73420934 + Missense_Mutation SNP T T C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr14:73420934T>C c.871T>C c.(871-873)Tcc>Ccc p.S291P COADREAD 14 73425436 73425436 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr14:73425436C>T c.1411C>T c.(1411-1413)Cgg>Tgg p.R471W COADREAD 14 73425458 73425458 + Missense_Mutation SNP C C T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr14:73425458C>T c.1433C>T c.(1432-1434)gCg>gTg p.A478V ESCA 14 73406569 73406569 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr14:73406569C>T c.152C>T c.(151-153)cCg>cTg p.P51L ESCA 14 73407001 73407001 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr14:73407001delC c.267delC c.(265-267)aacfs p.N89fs ESCA 14 73422300 73422300 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr14:73422300G>T c.1075G>T c.(1075-1077)Ggc>Tgc p.G359C ESCA 14 73423169 73423169 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr14:73423169C>T c.1255C>T c.(1255-1257)Ccc>Tcc p.P419S HNSC 14 73404779 73404779 + Splice_Site SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr14:73404779G>A c.e2+1 HNSC 14 73408452 73408452 + Splice_Site SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr14:73408452G>C c.e5-1 HNSC 14 73408516 73408516 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr14:73408516G>A c.415G>A c.(415-417)Gtc>Atc p.V139I HNSC 14 73412598 73412598 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr14:73412598A>G c.541A>G c.(541-543)Acc>Gcc p.T181A HNSC 14 73412678 73412678 + Silent SNP G G T TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr14:73412678G>T c.621G>T c.(619-621)ctG>ctT p.L207L HNSC 14 73422295 73422295 + Missense_Mutation SNP A A G TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 g.chr14:73422295A>G c.1070A>G c.(1069-1071)aAt>aGt p.N357S HNSC 14 73422322 73422322 + Missense_Mutation SNP G G A TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 g.chr14:73422322G>A c.1097G>A c.(1096-1098)cGc>cAc p.R366H KICH 14 73422350 73422350 + Silent SNP T T G TCGA-KO-8417-01A-11D-2310-10 TCGA-KO-8417-11A-01D-2311-10 g.chr14:73422350T>G c.1125T>G c.(1123-1125)tcT>tcG p.S375S KICH 14 73425508 73425508 + Missense_Mutation SNP A A G TCGA-KL-8332-01A-11D-2310-10 TCGA-KL-8332-11A-01D-2310-10 g.chr14:73425508A>G c.1483A>G c.(1483-1485)Agc>Ggc p.S495G KIPAN 14 73422350 73422350 + Silent SNP T T G TCGA-KO-8417-01A-11D-2310-10 TCGA-KO-8417-11A-01D-2311-10 g.chr14:73422350T>G c.1125T>G c.(1123-1125)tcT>tcG p.S375S KIPAN 14 73425508 73425508 + Missense_Mutation SNP A A G TCGA-KL-8332-01A-11D-2310-10 TCGA-KL-8332-11A-01D-2310-10 g.chr14:73425508A>G c.1483A>G c.(1483-1485)Agc>Ggc p.S495G LUAD 14 73404690 73404690 + Missense_Mutation SNP A A T TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr14:73404690A>T c.4A>T c.(4-6)Aat>Tat p.N2Y LUAD 14 73408452 73408452 + Splice_Site SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr14:73408452G>C c.e5-1 LUAD 14 73420894 73420894 + Silent SNP C C T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr14:73420894C>T c.831C>T c.(829-831)ctC>ctT p.L277L LUAD 14 73421106 73421106 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr14:73421106G>T c.920G>T c.(919-921)cGg>cTg p.R307L LUAD 14 73421133 73421133 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr14:73421133G>T c.947G>T c.(946-948)gGa>gTa p.G316V LUAD 14 73425486 73425486 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr14:73425486G>T c.1461G>T c.(1459-1461)caG>caT p.Q487H LUSC 14 73406560 73406560 + Missense_Mutation SNP A A G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr14:73406560A>G c.143A>G c.(142-144)gAc>gGc p.D48G LUSC 14 73412709 73412709 + Nonsense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr14:73412709G>T c.652G>T c.(652-654)Gaa>Taa p.E218* LUSC 14 73425438 73425438 + Silent SNP G G T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr14:73425438G>T c.1413G>T c.(1411-1413)cgG>cgT p.R471R OV 14 73420934 73420934 + Missense_Mutation SNP T T A TCGA-23-1122-01A-01W-0486-08 TCGA-23-1122-10A-01W-0486-08 g.chr14:73420934T>A c.871T>A c.(871-873)Tcc>Acc p.S291T PAAD 14 73412676 73412676 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:73412676C>A c.619C>A c.(619-621)Ctg>Atg p.L207M PRAD 14 73418524 73418524 + Silent SNP C C T TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 g.chr14:73418524C>T c.747C>T c.(745-747)ctC>ctT p.L249L SARC 14 73406981 73406981 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr14:73406981C>T c.247C>T c.(247-249)Cct>Tct p.P83S SARC 14 73409712 73409712 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr14:73409712G>A c.442G>A c.(442-444)Gag>Aag p.E148K SKCM 14 73404716 73404716 + Missense_Mutation SNP A A T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr14:73404716A>T c.30A>T c.(28-30)agA>agT p.R10S SKCM 14 73404717 73404717 + Nonsense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr14:73404717C>T c.31C>T c.(31-33)Cga>Tga p.R11* SKCM 14 73406578 73406578 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr14:73406578C>T c.161C>T c.(160-162)tCg>tTg p.S54L SKCM 14 73406971 73406971 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr14:73406971C>T c.237C>T c.(235-237)ttC>ttT p.F79F SKCM 14 73409707 73409707 + Missense_Mutation SNP C C T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 g.chr14:73409707C>T c.437C>T c.(436-438)gCc>gTc p.A146V SKCM 14 73409708 73409708 + Silent SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr14:73409708C>T c.438C>T c.(436-438)gcC>gcT p.A146A SKCM 14 73409798 73409798 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr14:73409798C>T c.528C>T c.(526-528)ctC>ctT p.L176L SKCM 14 73420935 73420935 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr14:73420935C>T c.872C>T c.(871-873)tCc>tTc p.S291F SKCM 14 73425459 73425459 + Silent SNP G G A TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr14:73425459G>A c.1434G>A c.(1432-1434)gcG>gcA p.A478A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 14 73404761 73404761 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 14 73404761 73404761 single base substitution C G exon_variant BLCA-US 14 73404761 73404761 single base substitution C G intron_variant BLCA-US 14 73404761 73404761 single base substitution C G synonymous_variant L25L 75C>G BLCA-US 14 73404761 73404761 single base substitution C G upstream_gene_variant BOCA-FR 14 73425369 73425369 single base substitution A T 3_prime_UTR_variant BOCA-FR 14 73425369 73425369 single base substitution A T downstream_gene_variant BOCA-FR 14 73425369 73425369 single base substitution A T synonymous_variant L278L 834A>T BOCA-FR 14 73425369 73425369 single base substitution A T synonymous_variant L348L 1044A>T BOCA-FR 14 73425369 73425369 single base substitution A T synonymous_variant L388L 1164A>T BOCA-FR 14 73425369 73425369 single base substitution A T synonymous_variant L442L 1326A>T BOCA-FR 14 73425369 73425369 single base substitution A T synonymous_variant L448L 1344A>T BOCA-FR 14 73425369 73425369 single base substitution A T upstream_gene_variant BRCA-EU 14 73390893 73390893 single base substitution A C upstream_gene_variant BRCA-EU 14 73392370 73392370 single base substitution G A upstream_gene_variant BRCA-EU 14 73393673 73393673 single base substitution G A intron_variant BRCA-EU 14 73393673 73393673 single base substitution G A upstream_gene_variant BRCA-EU 14 73393918 73393918 single base substitution G T intron_variant BRCA-EU 14 73393918 73393918 single base substitution G T upstream_gene_variant BRCA-EU 14 73396239 73396239 single base substitution C T intron_variant BRCA-EU 14 73396239 73396239 single base substitution C T upstream_gene_variant BRCA-EU 14 73396551 73396551 single base substitution G A intron_variant BRCA-EU 14 73396557 73396557 single base substitution G A intron_variant BRCA-EU 14 73396662 73396662 single base substitution G A intron_variant BRCA-EU 14 73396740 73396740 single base substitution G C intron_variant BRCA-EU 14 73397842 73397842 deletion of <=200bp A - intron_variant BRCA-EU 14 73400842 73400842 single base substitution C T intron_variant BRCA-EU 14 73400842 73400842 single base substitution C T upstream_gene_variant BRCA-EU 14 73401590 73401590 single base substitution G C intron_variant BRCA-EU 14 73401590 73401590 single base substitution G C upstream_gene_variant BRCA-EU 14 73403838 73403838 insertion of <=200bp - T intron_variant BRCA-EU 14 73403838 73403838 insertion of <=200bp - T upstream_gene_variant BRCA-EU 14 73405909 73405909 single base substitution A G intron_variant BRCA-EU 14 73405909 73405909 single base substitution A G upstream_gene_variant BRCA-EU 14 73407706 73407706 single base substitution C G downstream_gene_variant BRCA-EU 14 73407706 73407706 single base substitution C G intron_variant BRCA-EU 14 73407706 73407706 single base substitution C G upstream_gene_variant BRCA-EU 14 73408234 73408234 single base substitution G A downstream_gene_variant BRCA-EU 14 73408234 73408234 single base substitution G A intron_variant BRCA-EU 14 73408234 73408234 single base substitution G A upstream_gene_variant BRCA-EU 14 73408374 73408374 single base substitution A G downstream_gene_variant BRCA-EU 14 73408374 73408374 single base substitution A G intron_variant BRCA-EU 14 73408374 73408374 single base substitution A G upstream_gene_variant BRCA-EU 14 73413057 73413057 single base substitution G A downstream_gene_variant BRCA-EU 14 73413057 73413057 single base substitution G A intron_variant BRCA-EU 14 73413403 73413403 single base substitution G T downstream_gene_variant BRCA-EU 14 73413403 73413403 single base substitution G T intron_variant BRCA-EU 14 73413522 73413522 single base substitution G T downstream_gene_variant BRCA-EU 14 73413522 73413522 single base substitution G T intron_variant BRCA-EU 14 73413875 73413875 single base substitution T C 3_prime_UTR_variant BRCA-EU 14 73413875 73413875 single base substitution T C downstream_gene_variant BRCA-EU 14 73413875 73413875 single base substitution T C intron_variant BRCA-EU 14 73413875 73413875 single base substitution T C missense_variant L135P 404T>C BRCA-EU 14 73413875 73413875 single base substitution T C missense_variant L174P 521T>C BRCA-EU 14 73413875 73413875 single base substitution T C missense_variant L235P 704T>C BRCA-EU 14 73414036 73414036 deletion of <=200bp A - downstream_gene_variant BRCA-EU 14 73414036 73414036 deletion of <=200bp A - intron_variant BRCA-EU 14 73414105 73414105 single base substitution A C downstream_gene_variant BRCA-EU 14 73414105 73414105 single base substitution A C intron_variant BRCA-EU 14 73415777 73415777 single base substitution G C downstream_gene_variant BRCA-EU 14 73415777 73415777 single base substitution G C intron_variant BRCA-EU 14 73417011 73417011 single base substitution G T downstream_gene_variant BRCA-EU 14 73417011 73417011 single base substitution G T intron_variant BRCA-EU 14 73417229 73417229 single base substitution G C downstream_gene_variant BRCA-EU 14 73417229 73417229 single base substitution G C intron_variant BRCA-EU 14 73417267 73417267 single base substitution G C downstream_gene_variant BRCA-EU 14 73417267 73417267 single base substitution G C intron_variant BRCA-EU 14 73417355 73417355 single base substitution G C downstream_gene_variant BRCA-EU 14 73417355 73417355 single base substitution G C intron_variant BRCA-EU 14 73417564 73417564 single base substitution T C downstream_gene_variant BRCA-EU 14 73417564 73417564 single base substitution T C intron_variant BRCA-EU 14 73417765 73417765 single base substitution C T intron_variant BRCA-EU 14 73419022 73419022 single base substitution G T intron_variant BRCA-EU 14 73421860 73421860 single base substitution C G intron_variant BRCA-EU 14 73421860 73421860 single base substitution C G upstream_gene_variant BRCA-EU 14 73423120 73423120 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 73423120 73423120 single base substitution G A synonymous_variant T232T 696G>A BRCA-EU 14 73423120 73423120 single base substitution G A synonymous_variant T302T 906G>A BRCA-EU 14 73423120 73423120 single base substitution G A synonymous_variant T342T 1026G>A BRCA-EU 14 73423120 73423120 single base substitution G A synonymous_variant T396T 1188G>A BRCA-EU 14 73423120 73423120 single base substitution G A synonymous_variant T402T 1206G>A BRCA-EU 14 73423120 73423120 single base substitution G A upstream_gene_variant BRCA-EU 14 73424588 73424588 single base substitution A G 3_prime_UTR_variant BRCA-EU 14 73424588 73424588 single base substitution A G intron_variant BRCA-EU 14 73424588 73424588 single base substitution A G upstream_gene_variant BRCA-EU 14 73425109 73425109 single base substitution G T downstream_gene_variant BRCA-EU 14 73425109 73425109 single base substitution G T intron_variant BRCA-EU 14 73425109 73425109 single base substitution G T upstream_gene_variant BRCA-EU 14 73425880 73425880 single base substitution G T 3_prime_UTR_variant BRCA-EU 14 73425880 73425880 single base substitution G T downstream_gene_variant BRCA-EU 14 73425880 73425880 single base substitution G T exon_variant BRCA-EU 14 73426278 73426278 single base substitution G T 3_prime_UTR_variant BRCA-EU 14 73426278 73426278 single base substitution G T downstream_gene_variant BRCA-EU 14 73429669 73429669 single base substitution G C downstream_gene_variant BRCA-FR 14 73396239 73396239 single base substitution C T intron_variant BRCA-FR 14 73396239 73396239 single base substitution C T upstream_gene_variant BRCA-FR 14 73396740 73396740 single base substitution G C intron_variant BRCA-FR 14 73401590 73401590 single base substitution G C intron_variant BRCA-FR 14 73401590 73401590 single base substitution G C upstream_gene_variant BRCA-FR 14 73403249 73403249 single base substitution G A intron_variant BRCA-FR 14 73403249 73403249 single base substitution G A upstream_gene_variant BRCA-FR 14 73405909 73405909 single base substitution A G intron_variant BRCA-FR 14 73405909 73405909 single base substitution A G upstream_gene_variant BRCA-FR 14 73407706 73407706 single base substitution C G downstream_gene_variant BRCA-FR 14 73407706 73407706 single base substitution C G intron_variant BRCA-FR 14 73407706 73407706 single base substitution C G upstream_gene_variant BRCA-FR 14 73408374 73408374 single base substitution A G downstream_gene_variant BRCA-FR 14 73408374 73408374 single base substitution A G intron_variant BRCA-FR 14 73408374 73408374 single base substitution A G upstream_gene_variant BRCA-FR 14 73413403 73413403 single base substitution G T downstream_gene_variant BRCA-FR 14 73413403 73413403 single base substitution G T intron_variant BRCA-FR 14 73413522 73413522 single base substitution G T downstream_gene_variant BRCA-FR 14 73413522 73413522 single base substitution G T intron_variant BRCA-FR 14 73417765 73417765 single base substitution C T intron_variant BRCA-FR 14 73429669 73429669 single base substitution G C downstream_gene_variant BRCA-UK 14 73412379 73412379 single base substitution G C downstream_gene_variant BRCA-UK 14 73412379 73412379 single base substitution G C intron_variant BRCA-US 14 73408476 73408476 single base substitution A T 3_prime_UTR_variant BRCA-US 14 73408476 73408476 single base substitution A T downstream_gene_variant BRCA-US 14 73408476 73408476 single base substitution A T exon_variant BRCA-US 14 73408476 73408476 single base substitution A T intron_variant BRCA-US 14 73408476 73408476 single base substitution A T synonymous_variant A125A 375A>T BRCA-US 14 73408476 73408476 single base substitution A T synonymous_variant A25A 75A>T BRCA-US 14 73408476 73408476 single base substitution A T upstream_gene_variant BRCA-US 14 73418546 73418546 single base substitution A C 3_prime_UTR_variant BRCA-US 14 73418546 73418546 single base substitution A C intron_variant BRCA-US 14 73418546 73418546 single base substitution A C missense_variant T157P 469A>C BRCA-US 14 73418546 73418546 single base substitution A C missense_variant T196P 586A>C BRCA-US 14 73418546 73418546 single base substitution A C missense_variant T257P 769A>C BRCA-US 14 73425681 73425681 single base substitution A C 3_prime_UTR_variant BRCA-US 14 73425681 73425681 single base substitution A C downstream_gene_variant BRCA-US 14 73425681 73425681 single base substitution A C exon_variant BTCA-JP 14 73412781 73412787 deletion of <=200bp GGTAGTT - downstream_gene_variant BTCA-JP 14 73412781 73412787 deletion of <=200bp GGTAGTT - intron_variant BTCA-JP 14 73423183 73423183 single base substitution C T 3_prime_UTR_variant BTCA-JP 14 73423183 73423183 single base substitution C T synonymous_variant H253H 759C>T BTCA-JP 14 73423183 73423183 single base substitution C T synonymous_variant H323H 969C>T BTCA-JP 14 73423183 73423183 single base substitution C T synonymous_variant H363H 1089C>T BTCA-JP 14 73423183 73423183 single base substitution C T synonymous_variant H417H 1251C>T BTCA-JP 14 73423183 73423183 single base substitution C T synonymous_variant H423H 1269C>T BTCA-JP 14 73423183 73423183 single base substitution C T upstream_gene_variant BTCA-JP 14 73425291 73425291 single base substitution G A downstream_gene_variant BTCA-JP 14 73425291 73425291 single base substitution G A intron_variant BTCA-JP 14 73425291 73425291 single base substitution G A upstream_gene_variant CLLE-ES 14 73415745 73415745 single base substitution A G downstream_gene_variant CLLE-ES 14 73415745 73415745 single base substitution A G intron_variant CLLE-ES 14 73418456 73418456 single base substitution C G intron_variant COAD-US 14 73404752 73404752 single base substitution G C 5_prime_UTR_variant COAD-US 14 73404752 73404752 single base substitution G C exon_variant COAD-US 14 73404752 73404752 single base substitution G C intron_variant COAD-US 14 73404752 73404752 single base substitution G C missense_variant W22C 66G>C COAD-US 14 73404752 73404752 single base substitution G C upstream_gene_variant COAD-US 14 73406552 73406552 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 14 73406552 73406552 single base substitution C T exon_variant COAD-US 14 73406552 73406552 single base substitution C T synonymous_variant H45H 135C>T COAD-US 14 73406552 73406552 single base substitution C T upstream_gene_variant COAD-US 14 73407027 73407029 deletion of <=200bp AGA - 3_prime_UTR_variant COAD-US 14 73407027 73407029 deletion of <=200bp AGA - 5_prime_UTR_variant COAD-US 14 73407027 73407029 deletion of <=200bp AGA - downstream_gene_variant COAD-US 14 73407027 73407029 deletion of <=200bp AGA - exon_variant COAD-US 14 73407027 73407029 deletion of <=200bp AGA - inframe_deletion QK98Q COAD-US 14 73407027 73407029 deletion of <=200bp AGA - upstream_gene_variant COAD-US 14 73422259 73422259 single base substitution C G 3_prime_UTR_variant COAD-US 14 73422259 73422259 single base substitution C G missense_variant S175C 524C>G COAD-US 14 73422259 73422259 single base substitution C G missense_variant S245C 734C>G COAD-US 14 73422259 73422259 single base substitution C G missense_variant S285C 854C>G COAD-US 14 73422259 73422259 single base substitution C G missense_variant S339C 1016C>G COAD-US 14 73422259 73422259 single base substitution C G missense_variant S345C 1034C>G COAD-US 14 73422259 73422259 single base substitution C G upstream_gene_variant COAD-US 14 73422350 73422350 single base substitution T G 3_prime_UTR_variant COAD-US 14 73422350 73422350 single base substitution T G synonymous_variant S205S 615T>G COAD-US 14 73422350 73422350 single base substitution T G synonymous_variant S275S 825T>G COAD-US 14 73422350 73422350 single base substitution T G synonymous_variant S315S 945T>G COAD-US 14 73422350 73422350 single base substitution T G synonymous_variant S369S 1107T>G COAD-US 14 73422350 73422350 single base substitution T G synonymous_variant S375S 1125T>G COAD-US 14 73422350 73422350 single base substitution T G upstream_gene_variant COAD-US 14 73425436 73425436 single base substitution C T 3_prime_UTR_variant COAD-US 14 73425436 73425436 single base substitution C T downstream_gene_variant COAD-US 14 73425436 73425436 single base substitution C T exon_variant COAD-US 14 73425436 73425436 single base substitution C T missense_variant R301W 901C>T COAD-US 14 73425436 73425436 single base substitution C T missense_variant R371W 1111C>T COAD-US 14 73425436 73425436 single base substitution C T missense_variant R411W 1231C>T COAD-US 14 73425436 73425436 single base substitution C T missense_variant R465W 1393C>T COAD-US 14 73425436 73425436 single base substitution C T missense_variant R471W 1411C>T COAD-US 14 73425462 73425462 single base substitution G A 3_prime_UTR_variant COAD-US 14 73425462 73425462 single base substitution G A downstream_gene_variant COAD-US 14 73425462 73425462 single base substitution G A exon_variant COAD-US 14 73425462 73425462 single base substitution G A synonymous_variant P309P 927G>A COAD-US 14 73425462 73425462 single base substitution G A synonymous_variant P379P 1137G>A COAD-US 14 73425462 73425462 single base substitution G A synonymous_variant P419P 1257G>A COAD-US 14 73425462 73425462 single base substitution G A synonymous_variant P473P 1419G>A COAD-US 14 73425462 73425462 single base substitution G A synonymous_variant P479P 1437G>A COCA-CN 14 73406460 73406460 single base substitution G T intron_variant COCA-CN 14 73406460 73406460 single base substitution G T upstream_gene_variant COCA-CN 14 73408355 73408355 single base substitution G A downstream_gene_variant COCA-CN 14 73408355 73408355 single base substitution G A intron_variant COCA-CN 14 73408355 73408355 single base substitution G A upstream_gene_variant COCA-CN 14 73412628 73412628 single base substitution G A 3_prime_UTR_variant COCA-CN 14 73412628 73412628 single base substitution G A downstream_gene_variant COCA-CN 14 73412628 73412628 single base substitution G A exon_variant COCA-CN 14 73412628 73412628 single base substitution G A missense_variant D130N 388G>A COCA-CN 14 73412628 73412628 single base substitution G A missense_variant D191N 571G>A COCA-CN 14 73412628 73412628 single base substitution G A missense_variant D91N 271G>A COCA-CN 14 73413857 73413857 single base substitution C T 3_prime_UTR_variant COCA-CN 14 73413857 73413857 single base substitution C T downstream_gene_variant COCA-CN 14 73413857 73413857 single base substitution C T intron_variant COCA-CN 14 73413857 73413857 single base substitution C T missense_variant S129L 386C>T COCA-CN 14 73413857 73413857 single base substitution C T missense_variant S168L 503C>T COCA-CN 14 73413857 73413857 single base substitution C T missense_variant S229L 686C>T COCA-CN 14 73421161 73421161 single base substitution T A 3_prime_UTR_variant COCA-CN 14 73421161 73421161 single base substitution T A intron_variant COCA-CN 14 73421161 73421161 single base substitution T A missense_variant S225R 675T>A COCA-CN 14 73421161 73421161 single base substitution T A missense_variant S265R 795T>A COCA-CN 14 73421161 73421161 single base substitution T A missense_variant S325R 975T>A COCA-CN 14 73421161 73421161 single base substitution T A missense_variant S326R 978T>A COCA-CN 14 73421161 73421161 single base substitution T A upstream_gene_variant COCA-CN 14 73421210 73421210 single base substitution G A intron_variant COCA-CN 14 73421210 73421210 single base substitution G A upstream_gene_variant COCA-CN 14 73422269 73422269 single base substitution C A 3_prime_UTR_variant COCA-CN 14 73422269 73422269 single base substitution C A synonymous_variant I178I 534C>A COCA-CN 14 73422269 73422269 single base substitution C A synonymous_variant I248I 744C>A COCA-CN 14 73422269 73422269 single base substitution C A synonymous_variant I288I 864C>A COCA-CN 14 73422269 73422269 single base substitution C A synonymous_variant I342I 1026C>A COCA-CN 14 73422269 73422269 single base substitution C A synonymous_variant I348I 1044C>A COCA-CN 14 73422269 73422269 single base substitution C A upstream_gene_variant COCA-CN 14 73428713 73428713 single base substitution C A downstream_gene_variant COCA-CN 14 73428747 73428747 single base substitution A G downstream_gene_variant EOPC-DE 14 73406867 73406867 single base substitution C G intron_variant EOPC-DE 14 73406867 73406867 single base substitution C G upstream_gene_variant ESAD-UK 14 73393241 73393241 single base substitution A G 5_prime_UTR_variant ESAD-UK 14 73393241 73393241 single base substitution A G exon_variant ESAD-UK 14 73393241 73393241 single base substitution A G upstream_gene_variant ESAD-UK 14 73393394 73393394 single base substitution G A intron_variant ESAD-UK 14 73393394 73393394 single base substitution G A upstream_gene_variant ESAD-UK 14 73396373 73396373 single base substitution C A intron_variant ESAD-UK 14 73396373 73396373 single base substitution C A upstream_gene_variant ESAD-UK 14 73402242 73402242 single base substitution C T intron_variant ESAD-UK 14 73402242 73402242 single base substitution C T upstream_gene_variant ESAD-UK 14 73402259 73402259 single base substitution G A intron_variant ESAD-UK 14 73402259 73402259 single base substitution G A upstream_gene_variant ESAD-UK 14 73409594 73409594 single base substitution C T downstream_gene_variant ESAD-UK 14 73409594 73409594 single base substitution C T exon_variant ESAD-UK 14 73409594 73409594 single base substitution C T intron_variant ESAD-UK 14 73410387 73410387 single base substitution G C downstream_gene_variant ESAD-UK 14 73410387 73410387 single base substitution G C intron_variant ESAD-UK 14 73413829 73413829 single base substitution C T downstream_gene_variant ESAD-UK 14 73413829 73413829 single base substitution C T intron_variant ESAD-UK 14 73414896 73414896 single base substitution G T downstream_gene_variant ESAD-UK 14 73414896 73414896 single base substitution G T intron_variant ESAD-UK 14 73414927 73414927 single base substitution G T downstream_gene_variant ESAD-UK 14 73414927 73414927 single base substitution G T intron_variant ESAD-UK 14 73416198 73416198 single base substitution C T downstream_gene_variant ESAD-UK 14 73416198 73416198 single base substitution C T intron_variant ESAD-UK 14 73416563 73416563 single base substitution C T downstream_gene_variant ESAD-UK 14 73416563 73416563 single base substitution C T intron_variant ESAD-UK 14 73417307 73417307 single base substitution G A downstream_gene_variant ESAD-UK 14 73417307 73417307 single base substitution G A intron_variant ESAD-UK 14 73418226 73418226 deletion of <=200bp G - intron_variant ESAD-UK 14 73420997 73420997 single base substitution A T intron_variant ESAD-UK 14 73420997 73420997 single base substitution A T upstream_gene_variant ESAD-UK 14 73425226 73425226 single base substitution G T downstream_gene_variant ESAD-UK 14 73425226 73425226 single base substitution G T intron_variant ESAD-UK 14 73425226 73425226 single base substitution G T upstream_gene_variant ESAD-UK 14 73425408 73425408 single base substitution C T 3_prime_UTR_variant ESAD-UK 14 73425408 73425408 single base substitution C T downstream_gene_variant ESAD-UK 14 73425408 73425408 single base substitution C T synonymous_variant A291A 873C>T ESAD-UK 14 73425408 73425408 single base substitution C T synonymous_variant A361A 1083C>T ESAD-UK 14 73425408 73425408 single base substitution C T synonymous_variant A401A 1203C>T ESAD-UK 14 73425408 73425408 single base substitution C T synonymous_variant A455A 1365C>T ESAD-UK 14 73425408 73425408 single base substitution C T synonymous_variant A461A 1383C>T ESAD-UK 14 73425408 73425408 single base substitution C T upstream_gene_variant ESAD-UK 14 73427364 73427364 single base substitution G A downstream_gene_variant ESAD-UK 14 73428796 73428797 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 14 73429395 73429395 single base substitution G A downstream_gene_variant ESAD-UK 14 73430463 73430463 single base substitution C G downstream_gene_variant ESCA-CN 14 73412464 73412464 single base substitution A C downstream_gene_variant ESCA-CN 14 73412464 73412464 single base substitution A C intron_variant ESCA-CN 14 73425462 73425462 single base substitution G A 3_prime_UTR_variant ESCA-CN 14 73425462 73425462 single base substitution G A downstream_gene_variant ESCA-CN 14 73425462 73425462 single base substitution G A exon_variant ESCA-CN 14 73425462 73425462 single base substitution G A synonymous_variant P309P 927G>A ESCA-CN 14 73425462 73425462 single base substitution G A synonymous_variant P379P 1137G>A ESCA-CN 14 73425462 73425462 single base substitution G A synonymous_variant P419P 1257G>A ESCA-CN 14 73425462 73425462 single base substitution G A synonymous_variant P473P 1419G>A ESCA-CN 14 73425462 73425462 single base substitution G A synonymous_variant P479P 1437G>A KIRP-US 14 73412735 73412735 single base substitution G A downstream_gene_variant KIRP-US 14 73412735 73412735 single base substitution G A exon_variant KIRP-US 14 73412735 73412735 single base substitution G A splice_region_variant LAML-KR 14 73389511 73389511 single base substitution G A upstream_gene_variant LAML-KR 14 73394789 73394789 single base substitution G A intron_variant LAML-KR 14 73394789 73394789 single base substitution G A upstream_gene_variant LAML-KR 14 73425462 73425462 single base substitution G A 3_prime_UTR_variant LAML-KR 14 73425462 73425462 single base substitution G A downstream_gene_variant LAML-KR 14 73425462 73425462 single base substitution G A exon_variant LAML-KR 14 73425462 73425462 single base substitution G A synonymous_variant P309P 927G>A LAML-KR 14 73425462 73425462 single base substitution G A synonymous_variant P379P 1137G>A LAML-KR 14 73425462 73425462 single base substitution G A synonymous_variant P419P 1257G>A LAML-KR 14 73425462 73425462 single base substitution G A synonymous_variant P473P 1419G>A LAML-KR 14 73425462 73425462 single base substitution G A synonymous_variant P479P 1437G>A LICA-CN 14 73408532 73408532 single base substitution A T downstream_gene_variant LICA-CN 14 73408532 73408532 single base substitution A T exon_variant LICA-CN 14 73408532 73408532 single base substitution A T intron_variant LICA-CN 14 73408532 73408532 single base substitution A T missense_variant H144L 431A>T LICA-CN 14 73408532 73408532 single base substitution A T missense_variant H44L 131A>T LICA-CN 14 73408532 73408532 single base substitution A T splice_region_variant LICA-CN 14 73408532 73408532 single base substitution A T upstream_gene_variant LICA-FR 14 73404698 73404698 single base substitution T C 5_prime_UTR_variant LICA-FR 14 73404698 73404698 single base substitution T C exon_variant LICA-FR 14 73404698 73404698 single base substitution T C intron_variant LICA-FR 14 73404698 73404698 single base substitution T C synonymous_variant S4S 12T>C LICA-FR 14 73404698 73404698 single base substitution T C upstream_gene_variant LICA-FR 14 73427678 73427678 single base substitution T G downstream_gene_variant LINC-JP 14 73394894 73394894 single base substitution A C intron_variant LINC-JP 14 73394894 73394894 single base substitution A C upstream_gene_variant LINC-JP 14 73402850 73402850 single base substitution C T intron_variant LINC-JP 14 73402850 73402850 single base substitution C T upstream_gene_variant LINC-JP 14 73418740 73418740 single base substitution T A intron_variant LINC-JP 14 73420846 73420846 single base substitution T G intron_variant LINC-JP 14 73420846 73420846 single base substitution T G upstream_gene_variant LINC-JP 14 73422866 73422866 single base substitution T C intron_variant LINC-JP 14 73422866 73422866 single base substitution T C upstream_gene_variant LIRI-JP 14 73389959 73389959 single base substitution C A upstream_gene_variant LIRI-JP 14 73393753 73393753 single base substitution G T intron_variant LIRI-JP 14 73393753 73393753 single base substitution G T upstream_gene_variant LIRI-JP 14 73395679 73395679 single base substitution C A intron_variant LIRI-JP 14 73395679 73395679 single base substitution C A upstream_gene_variant LIRI-JP 14 73396310 73396310 single base substitution G T intron_variant LIRI-JP 14 73396310 73396310 single base substitution G T upstream_gene_variant LIRI-JP 14 73396442 73396442 single base substitution C A exon_variant LIRI-JP 14 73396442 73396442 single base substitution C A intron_variant LIRI-JP 14 73396796 73396796 single base substitution G A intron_variant LIRI-JP 14 73401400 73401400 single base substitution G T intron_variant LIRI-JP 14 73401400 73401400 single base substitution G T upstream_gene_variant LIRI-JP 14 73401470 73401470 single base substitution C T intron_variant LIRI-JP 14 73401470 73401470 single base substitution C T upstream_gene_variant LIRI-JP 14 73402788 73402788 single base substitution A G intron_variant LIRI-JP 14 73402788 73402788 single base substitution A G upstream_gene_variant LIRI-JP 14 73405185 73405185 single base substitution A G intron_variant LIRI-JP 14 73405185 73405185 single base substitution A G upstream_gene_variant LIRI-JP 14 73406236 73406236 single base substitution C A intron_variant LIRI-JP 14 73406236 73406236 single base substitution C A upstream_gene_variant LIRI-JP 14 73406625 73406625 single base substitution G A intron_variant LIRI-JP 14 73406625 73406625 single base substitution G A upstream_gene_variant LIRI-JP 14 73409911 73409911 single base substitution A G downstream_gene_variant LIRI-JP 14 73409911 73409911 single base substitution A G intron_variant LIRI-JP 14 73411414 73411414 single base substitution C T downstream_gene_variant LIRI-JP 14 73411414 73411414 single base substitution C T intron_variant LIRI-JP 14 73415523 73415523 single base substitution T G downstream_gene_variant LIRI-JP 14 73415523 73415523 single base substitution T G intron_variant LIRI-JP 14 73417708 73417708 single base substitution A C downstream_gene_variant LIRI-JP 14 73417708 73417708 single base substitution A C intron_variant LIRI-JP 14 73418476 73418476 single base substitution T A intron_variant LIRI-JP 14 73419488 73419488 single base substitution C T intron_variant LIRI-JP 14 73420654 73420654 single base substitution C T intron_variant LIRI-JP 14 73420654 73420654 single base substitution C T upstream_gene_variant LIRI-JP 14 73421338 73421338 single base substitution G C intron_variant LIRI-JP 14 73421338 73421338 single base substitution G C upstream_gene_variant LIRI-JP 14 73422237 73422237 single base substitution C G 3_prime_UTR_variant LIRI-JP 14 73422237 73422237 single base substitution C G missense_variant L168V 502C>G LIRI-JP 14 73422237 73422237 single base substitution C G missense_variant L238V 712C>G LIRI-JP 14 73422237 73422237 single base substitution C G missense_variant L278V 832C>G LIRI-JP 14 73422237 73422237 single base substitution C G missense_variant L332V 994C>G LIRI-JP 14 73422237 73422237 single base substitution C G missense_variant L338V 1012C>G LIRI-JP 14 73422237 73422237 single base substitution C G upstream_gene_variant LIRI-JP 14 73423900 73423900 single base substitution C A 3_prime_UTR_variant LIRI-JP 14 73423900 73423900 single base substitution C A intron_variant LIRI-JP 14 73423900 73423900 single base substitution C A upstream_gene_variant LIRI-JP 14 73428450 73428450 single base substitution G A downstream_gene_variant LIRI-JP 14 73429839 73429839 deletion of <=200bp A - downstream_gene_variant LUSC-KR 14 73393246 73393246 single base substitution G C 5_prime_UTR_variant LUSC-KR 14 73393246 73393246 single base substitution G C exon_variant LUSC-KR 14 73393246 73393246 single base substitution G C upstream_gene_variant LUSC-KR 14 73393284 73393284 single base substitution A G intron_variant LUSC-KR 14 73393284 73393284 single base substitution A G upstream_gene_variant LUSC-KR 14 73396132 73396132 single base substitution G T intron_variant LUSC-KR 14 73396132 73396132 single base substitution G T upstream_gene_variant LUSC-KR 14 73400844 73400844 single base substitution A C intron_variant LUSC-KR 14 73400844 73400844 single base substitution A C upstream_gene_variant LUSC-KR 14 73404139 73404139 single base substitution G T intron_variant LUSC-KR 14 73404139 73404139 single base substitution G T upstream_gene_variant LUSC-KR 14 73404752 73404752 single base substitution G C 5_prime_UTR_variant LUSC-KR 14 73404752 73404752 single base substitution G C exon_variant LUSC-KR 14 73404752 73404752 single base substitution G C intron_variant LUSC-KR 14 73404752 73404752 single base substitution G C missense_variant W22C 66G>C LUSC-KR 14 73404752 73404752 single base substitution G C upstream_gene_variant LUSC-KR 14 73407317 73407317 single base substitution G T downstream_gene_variant LUSC-KR 14 73407317 73407317 single base substitution G T intron_variant LUSC-KR 14 73407317 73407317 single base substitution G T upstream_gene_variant LUSC-KR 14 73408616 73408616 single base substitution G C downstream_gene_variant LUSC-KR 14 73408616 73408616 single base substitution G C intron_variant LUSC-KR 14 73408616 73408616 single base substitution G C upstream_gene_variant LUSC-KR 14 73409683 73409683 single base substitution C G downstream_gene_variant LUSC-KR 14 73409683 73409683 single base substitution C G exon_variant LUSC-KR 14 73409683 73409683 single base substitution C G intron_variant LUSC-KR 14 73410723 73410723 single base substitution A G downstream_gene_variant LUSC-KR 14 73410723 73410723 single base substitution A G intron_variant LUSC-KR 14 73415276 73415276 single base substitution C T downstream_gene_variant LUSC-KR 14 73415276 73415276 single base substitution C T intron_variant LUSC-KR 14 73416710 73416710 single base substitution A G downstream_gene_variant LUSC-KR 14 73416710 73416710 single base substitution A G intron_variant LUSC-KR 14 73422259 73422259 single base substitution C G 3_prime_UTR_variant LUSC-KR 14 73422259 73422259 single base substitution C G missense_variant S175C 524C>G LUSC-KR 14 73422259 73422259 single base substitution C G missense_variant S245C 734C>G LUSC-KR 14 73422259 73422259 single base substitution C G missense_variant S285C 854C>G LUSC-KR 14 73422259 73422259 single base substitution C G missense_variant S339C 1016C>G LUSC-KR 14 73422259 73422259 single base substitution C G missense_variant S345C 1034C>G LUSC-KR 14 73422259 73422259 single base substitution C G upstream_gene_variant LUSC-KR 14 73426290 73426290 single base substitution C T 3_prime_UTR_variant LUSC-KR 14 73426290 73426290 single base substitution C T downstream_gene_variant LUSC-KR 14 73430680 73430680 single base substitution C T downstream_gene_variant LUSC-US 14 73406560 73406560 single base substitution A G 5_prime_UTR_variant LUSC-US 14 73406560 73406560 single base substitution A G exon_variant LUSC-US 14 73406560 73406560 single base substitution A G missense_variant D48G 143A>G LUSC-US 14 73406560 73406560 single base substitution A G upstream_gene_variant LUSC-US 14 73412709 73412709 single base substitution G T 3_prime_UTR_variant LUSC-US 14 73412709 73412709 single base substitution G T downstream_gene_variant LUSC-US 14 73412709 73412709 single base substitution G T exon_variant LUSC-US 14 73412709 73412709 single base substitution G T stop_gained E118* 352G>T LUSC-US 14 73412709 73412709 single base substitution G T stop_gained E157* 469G>T LUSC-US 14 73412709 73412709 single base substitution G T stop_gained E218* 652G>T LUSC-US 14 73425438 73425438 single base substitution G T 3_prime_UTR_variant LUSC-US 14 73425438 73425438 single base substitution G T downstream_gene_variant LUSC-US 14 73425438 73425438 single base substitution G T exon_variant LUSC-US 14 73425438 73425438 single base substitution G T synonymous_variant R301R 903G>T LUSC-US 14 73425438 73425438 single base substitution G T synonymous_variant R371R 1113G>T LUSC-US 14 73425438 73425438 single base substitution G T synonymous_variant R411R 1233G>T LUSC-US 14 73425438 73425438 single base substitution G T synonymous_variant R465R 1395G>T LUSC-US 14 73425438 73425438 single base substitution G T synonymous_variant R471R 1413G>T MALY-DE 14 73391918 73391918 single base substitution G A upstream_gene_variant MALY-DE 14 73406232 73406232 single base substitution A G intron_variant MALY-DE 14 73406232 73406232 single base substitution A G upstream_gene_variant MALY-DE 14 73414611 73414611 insertion of <=200bp - G downstream_gene_variant MALY-DE 14 73414611 73414611 insertion of <=200bp - G intron_variant MALY-DE 14 73428263 73428263 single base substitution C T downstream_gene_variant MELA-AU 14 73388815 73388815 single base substitution G A upstream_gene_variant MELA-AU 14 73389037 73389037 single base substitution T A upstream_gene_variant MELA-AU 14 73389067 73389067 single base substitution G A upstream_gene_variant MELA-AU 14 73389105 73389105 single base substitution A G upstream_gene_variant MELA-AU 14 73389411 73389411 single base substitution C T upstream_gene_variant MELA-AU 14 73389758 73389758 single base substitution G A upstream_gene_variant MELA-AU 14 73391991 73391991 deletion of <=200bp G - upstream_gene_variant MELA-AU 14 73392011 73392011 single base substitution G A upstream_gene_variant MELA-AU 14 73392499 73392499 single base substitution G A upstream_gene_variant MELA-AU 14 73392952 73392952 single base substitution C T upstream_gene_variant MELA-AU 14 73393107 73393107 single base substitution A T 5_prime_UTR_variant MELA-AU 14 73393107 73393107 single base substitution A T upstream_gene_variant MELA-AU 14 73393172 73393172 single base substitution C T 5_prime_UTR_variant MELA-AU 14 73393172 73393172 single base substitution C T upstream_gene_variant MELA-AU 14 73393173 73393173 single base substitution T C 5_prime_UTR_variant MELA-AU 14 73393173 73393173 single base substitution T C upstream_gene_variant MELA-AU 14 73395579 73395579 single base substitution C T intron_variant MELA-AU 14 73395579 73395579 single base substitution C T upstream_gene_variant MELA-AU 14 73395618 73395618 single base substitution C T intron_variant MELA-AU 14 73395618 73395618 single base substitution C T upstream_gene_variant MELA-AU 14 73396236 73396236 single base substitution C T intron_variant MELA-AU 14 73396236 73396236 single base substitution C T upstream_gene_variant MELA-AU 14 73397163 73397163 single base substitution G A intron_variant MELA-AU 14 73397324 73397324 single base substitution C T intron_variant MELA-AU 14 73397349 73397349 single base substitution G A intron_variant MELA-AU 14 73397350 73397350 insertion of <=200bp - TA intron_variant MELA-AU 14 73397441 73397441 single base substitution C T intron_variant MELA-AU 14 73397494 73397494 single base substitution C T intron_variant MELA-AU 14 73397509 73397510 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 14 73397746 73397746 single base substitution G A intron_variant MELA-AU 14 73397834 73397834 single base substitution C T intron_variant MELA-AU 14 73398088 73398088 single base substitution C T intron_variant MELA-AU 14 73398645 73398645 single base substitution G A intron_variant MELA-AU 14 73398751 73398751 single base substitution C T intron_variant MELA-AU 14 73399017 73399017 single base substitution C T intron_variant MELA-AU 14 73399577 73399577 single base substitution G C intron_variant MELA-AU 14 73399689 73399689 single base substitution C T intron_variant MELA-AU 14 73400499 73400499 single base substitution C T intron_variant MELA-AU 14 73400499 73400499 single base substitution C T upstream_gene_variant MELA-AU 14 73402475 73402475 single base substitution C T intron_variant MELA-AU 14 73402475 73402475 single base substitution C T upstream_gene_variant MELA-AU 14 73402510 73402510 single base substitution C T intron_variant MELA-AU 14 73402510 73402510 single base substitution C T upstream_gene_variant MELA-AU 14 73402850 73402850 single base substitution C T intron_variant MELA-AU 14 73402850 73402850 single base substitution C T upstream_gene_variant MELA-AU 14 73403370 73403370 single base substitution T C intron_variant MELA-AU 14 73403370 73403370 single base substitution T C upstream_gene_variant MELA-AU 14 73403643 73403643 single base substitution A C intron_variant MELA-AU 14 73403643 73403643 single base substitution A C upstream_gene_variant MELA-AU 14 73404385 73404385 single base substitution C T intron_variant MELA-AU 14 73404385 73404385 single base substitution C T upstream_gene_variant MELA-AU 14 73404670 73404670 single base substitution C T intron_variant MELA-AU 14 73404670 73404670 single base substitution C T upstream_gene_variant MELA-AU 14 73405100 73405100 single base substitution C T intron_variant MELA-AU 14 73405100 73405100 single base substitution C T upstream_gene_variant MELA-AU 14 73405964 73405964 single base substitution C T intron_variant MELA-AU 14 73405964 73405964 single base substitution C T upstream_gene_variant MELA-AU 14 73406050 73406050 single base substitution C T intron_variant MELA-AU 14 73406050 73406050 single base substitution C T upstream_gene_variant MELA-AU 14 73406368 73406368 single base substitution G A intron_variant MELA-AU 14 73406368 73406368 single base substitution G A upstream_gene_variant MELA-AU 14 73406568 73406568 single base substitution C T 5_prime_UTR_variant MELA-AU 14 73406568 73406568 single base substitution C T exon_variant MELA-AU 14 73406568 73406568 single base substitution C T missense_variant P51S 151C>T MELA-AU 14 73406568 73406568 single base substitution C T upstream_gene_variant MELA-AU 14 73406789 73406789 single base substitution G A intron_variant MELA-AU 14 73406789 73406789 single base substitution G A upstream_gene_variant MELA-AU 14 73407014 73407014 single base substitution G A 3_prime_UTR_variant MELA-AU 14 73407014 73407014 single base substitution G A 5_prime_UTR_variant MELA-AU 14 73407014 73407014 single base substitution G A downstream_gene_variant MELA-AU 14 73407014 73407014 single base substitution G A exon_variant MELA-AU 14 73407014 73407014 single base substitution G A missense_variant E94K 280G>A MELA-AU 14 73407014 73407014 single base substitution G A upstream_gene_variant MELA-AU 14 73407682 73407682 single base substitution G T downstream_gene_variant MELA-AU 14 73407682 73407682 single base substitution G T intron_variant MELA-AU 14 73407682 73407682 single base substitution G T upstream_gene_variant MELA-AU 14 73408192 73408192 single base substitution C T downstream_gene_variant MELA-AU 14 73408192 73408192 single base substitution C T intron_variant MELA-AU 14 73408192 73408192 single base substitution C T upstream_gene_variant MELA-AU 14 73408579 73408579 single base substitution C T downstream_gene_variant MELA-AU 14 73408579 73408579 single base substitution C T exon_variant MELA-AU 14 73408579 73408579 single base substitution C T intron_variant MELA-AU 14 73408579 73408579 single base substitution C T upstream_gene_variant MELA-AU 14 73409177 73409177 single base substitution G A downstream_gene_variant MELA-AU 14 73409177 73409177 single base substitution G A exon_variant MELA-AU 14 73409177 73409177 single base substitution G A intron_variant MELA-AU 14 73409177 73409177 single base substitution G A upstream_gene_variant MELA-AU 14 73409359 73409359 single base substitution C T downstream_gene_variant MELA-AU 14 73409359 73409359 single base substitution C T intron_variant MELA-AU 14 73409359 73409359 single base substitution C T upstream_gene_variant MELA-AU 14 73410031 73410031 single base substitution C T downstream_gene_variant MELA-AU 14 73410031 73410031 single base substitution C T intron_variant MELA-AU 14 73410397 73410397 single base substitution A G downstream_gene_variant MELA-AU 14 73410397 73410397 single base substitution A G intron_variant MELA-AU 14 73410429 73410429 single base substitution C T downstream_gene_variant MELA-AU 14 73410429 73410429 single base substitution C T intron_variant MELA-AU 14 73410725 73410725 single base substitution T G downstream_gene_variant MELA-AU 14 73410725 73410725 single base substitution T G intron_variant MELA-AU 14 73411545 73411545 single base substitution C T downstream_gene_variant MELA-AU 14 73411545 73411545 single base substitution C T intron_variant MELA-AU 14 73411983 73411983 single base substitution C T downstream_gene_variant MELA-AU 14 73411983 73411983 single base substitution C T intron_variant MELA-AU 14 73412356 73412356 single base substitution C T downstream_gene_variant MELA-AU 14 73412356 73412356 single base substitution C T intron_variant MELA-AU 14 73412582 73412582 single base substitution C T downstream_gene_variant MELA-AU 14 73412582 73412582 single base substitution C T intron_variant MELA-AU 14 73413037 73413037 single base substitution C T downstream_gene_variant MELA-AU 14 73413037 73413037 single base substitution C T intron_variant MELA-AU 14 73413572 73413572 single base substitution G A downstream_gene_variant MELA-AU 14 73413572 73413572 single base substitution G A intron_variant MELA-AU 14 73413646 73413646 single base substitution C T downstream_gene_variant MELA-AU 14 73413646 73413646 single base substitution C T intron_variant MELA-AU 14 73413841 73413841 single base substitution C T downstream_gene_variant MELA-AU 14 73413841 73413841 single base substitution C T intron_variant MELA-AU 14 73414123 73414123 single base substitution G A downstream_gene_variant MELA-AU 14 73414123 73414123 single base substitution G A intron_variant MELA-AU 14 73414785 73414785 single base substitution C A downstream_gene_variant MELA-AU 14 73414785 73414785 single base substitution C A intron_variant MELA-AU 14 73414885 73414885 single base substitution G A downstream_gene_variant MELA-AU 14 73414885 73414885 single base substitution G A intron_variant MELA-AU 14 73415892 73415892 single base substitution C T downstream_gene_variant MELA-AU 14 73415892 73415892 single base substitution C T intron_variant MELA-AU 14 73415914 73415914 single base substitution T C downstream_gene_variant MELA-AU 14 73415914 73415914 single base substitution T C intron_variant MELA-AU 14 73416542 73416542 single base substitution C T downstream_gene_variant MELA-AU 14 73416542 73416542 single base substitution C T intron_variant MELA-AU 14 73416673 73416673 single base substitution C T downstream_gene_variant MELA-AU 14 73416673 73416673 single base substitution C T intron_variant MELA-AU 14 73416798 73416798 single base substitution C T downstream_gene_variant MELA-AU 14 73416798 73416798 single base substitution C T intron_variant MELA-AU 14 73417289 73417289 single base substitution G A downstream_gene_variant MELA-AU 14 73417289 73417289 single base substitution G A intron_variant MELA-AU 14 73417922 73417922 single base substitution C T intron_variant MELA-AU 14 73418015 73418015 single base substitution C T intron_variant MELA-AU 14 73418017 73418017 single base substitution C T intron_variant MELA-AU 14 73418115 73418115 single base substitution T C intron_variant MELA-AU 14 73418399 73418399 single base substitution T C intron_variant MELA-AU 14 73418772 73418772 single base substitution C T intron_variant MELA-AU 14 73418923 73418923 single base substitution T C intron_variant MELA-AU 14 73419322 73419322 single base substitution C T intron_variant MELA-AU 14 73419832 73419832 single base substitution C T intron_variant MELA-AU 14 73420305 73420305 single base substitution C T intron_variant MELA-AU 14 73420805 73420805 single base substitution C T intron_variant MELA-AU 14 73420805 73420805 single base substitution C T upstream_gene_variant MELA-AU 14 73420835 73420836 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 73420835 73420836 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 73421669 73421669 single base substitution G A intron_variant MELA-AU 14 73421669 73421669 single base substitution G A upstream_gene_variant MELA-AU 14 73422072 73422072 single base substitution C T intron_variant MELA-AU 14 73422072 73422072 single base substitution C T upstream_gene_variant MELA-AU 14 73422845 73422845 single base substitution G A intron_variant MELA-AU 14 73422845 73422845 single base substitution G A upstream_gene_variant MELA-AU 14 73423584 73423584 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73423584 73423584 single base substitution C T intron_variant MELA-AU 14 73423584 73423584 single base substitution C T upstream_gene_variant MELA-AU 14 73424790 73424790 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73424790 73424790 single base substitution C T intron_variant MELA-AU 14 73424790 73424790 single base substitution C T upstream_gene_variant MELA-AU 14 73425263 73425263 single base substitution G T downstream_gene_variant MELA-AU 14 73425263 73425263 single base substitution G T intron_variant MELA-AU 14 73425263 73425263 single base substitution G T upstream_gene_variant MELA-AU 14 73425568 73425568 single base substitution A G 3_prime_UTR_variant MELA-AU 14 73425568 73425568 single base substitution A G downstream_gene_variant MELA-AU 14 73425568 73425568 single base substitution A G exon_variant MELA-AU 14 73425661 73425661 single base substitution C T 3_prime_UTR_variant MELA-AU 14 73425661 73425661 single base substitution C T downstream_gene_variant MELA-AU 14 73425661 73425661 single base substitution C T exon_variant MELA-AU 14 73426820 73426820 single base substitution C T downstream_gene_variant MELA-AU 14 73428041 73428041 single base substitution C T downstream_gene_variant MELA-AU 14 73428544 73428544 single base substitution C T downstream_gene_variant MELA-AU 14 73429216 73429216 single base substitution A G downstream_gene_variant MELA-AU 14 73429729 73429729 single base substitution G A downstream_gene_variant MELA-AU 14 73430478 73430478 single base substitution C T downstream_gene_variant MELA-AU 14 73430572 73430572 single base substitution G A downstream_gene_variant MELA-AU 14 73430785 73430785 single base substitution G A downstream_gene_variant ORCA-IN 14 73395206 73395206 single base substitution C G intron_variant ORCA-IN 14 73395206 73395206 single base substitution C G upstream_gene_variant ORCA-IN 14 73409334 73409334 single base substitution G A downstream_gene_variant ORCA-IN 14 73409334 73409334 single base substitution G A intron_variant ORCA-IN 14 73409334 73409334 single base substitution G A upstream_gene_variant OV-AU 14 73391132 73391132 single base substitution G A upstream_gene_variant OV-AU 14 73408460 73408460 single base substitution G A 3_prime_UTR_variant OV-AU 14 73408460 73408460 single base substitution G A downstream_gene_variant OV-AU 14 73408460 73408460 single base substitution G A exon_variant OV-AU 14 73408460 73408460 single base substitution G A intron_variant OV-AU 14 73408460 73408460 single base substitution G A missense_variant R120K 359G>A OV-AU 14 73408460 73408460 single base substitution G A missense_variant R20K 59G>A OV-AU 14 73408460 73408460 single base substitution G A upstream_gene_variant OV-AU 14 73416158 73416158 single base substitution T G downstream_gene_variant OV-AU 14 73416158 73416158 single base substitution T G intron_variant OV-AU 14 73423184 73423184 single base substitution G A 3_prime_UTR_variant OV-AU 14 73423184 73423184 single base substitution G A missense_variant E254K 760G>A OV-AU 14 73423184 73423184 single base substitution G A missense_variant E324K 970G>A OV-AU 14 73423184 73423184 single base substitution G A missense_variant E364K 1090G>A OV-AU 14 73423184 73423184 single base substitution G A missense_variant E418K 1252G>A OV-AU 14 73423184 73423184 single base substitution G A missense_variant E424K 1270G>A OV-AU 14 73423184 73423184 single base substitution G A upstream_gene_variant OV-AU 14 73428430 73428430 single base substitution G C downstream_gene_variant OV-AU 14 73429928 73429928 single base substitution G C downstream_gene_variant PACA-AU 14 73388045 73388045 single base substitution T C upstream_gene_variant PACA-AU 14 73397623 73397623 insertion of <=200bp - CTAA intron_variant PACA-AU 14 73400804 73400804 single base substitution G C intron_variant PACA-AU 14 73400804 73400804 single base substitution G C upstream_gene_variant PACA-AU 14 73406361 73406361 single base substitution C A intron_variant PACA-AU 14 73406361 73406361 single base substitution C A upstream_gene_variant PACA-AU 14 73410540 73410540 single base substitution G T downstream_gene_variant PACA-AU 14 73410540 73410540 single base substitution G T intron_variant PACA-AU 14 73410566 73410566 single base substitution C T downstream_gene_variant PACA-AU 14 73410566 73410566 single base substitution C T intron_variant PACA-AU 14 73412360 73412360 single base substitution C T downstream_gene_variant PACA-AU 14 73412360 73412360 single base substitution C T intron_variant PACA-AU 14 73413845 73413845 single base substitution A C downstream_gene_variant PACA-AU 14 73413845 73413845 single base substitution A C intron_variant PACA-AU 14 73413845 73413845 single base substitution A C splice_region_variant PACA-AU 14 73414888 73414888 deletion of <=200bp T - downstream_gene_variant PACA-AU 14 73414888 73414888 deletion of <=200bp T - intron_variant PACA-AU 14 73427180 73427180 single base substitution C T downstream_gene_variant PACA-AU 14 73430366 73430366 single base substitution C T downstream_gene_variant PACA-CA 14 73391384 73391384 single base substitution C A upstream_gene_variant PACA-CA 14 73393119 73393119 single base substitution G A 5_prime_UTR_variant PACA-CA 14 73393119 73393119 single base substitution G A upstream_gene_variant PACA-CA 14 73395964 73395964 single base substitution G A intron_variant PACA-CA 14 73395964 73395964 single base substitution G A upstream_gene_variant PACA-CA 14 73401261 73401261 single base substitution G A intron_variant PACA-CA 14 73401261 73401261 single base substitution G A upstream_gene_variant PACA-CA 14 73401450 73401450 single base substitution T C intron_variant PACA-CA 14 73401450 73401450 single base substitution T C upstream_gene_variant PACA-CA 14 73405370 73405370 single base substitution A G intron_variant PACA-CA 14 73405370 73405370 single base substitution A G upstream_gene_variant PACA-CA 14 73408515 73408515 single base substitution C G 3_prime_UTR_variant PACA-CA 14 73408515 73408515 single base substitution C G downstream_gene_variant PACA-CA 14 73408515 73408515 single base substitution C G exon_variant PACA-CA 14 73408515 73408515 single base substitution C G intron_variant PACA-CA 14 73408515 73408515 single base substitution C G missense_variant N138K 414C>G PACA-CA 14 73408515 73408515 single base substitution C G missense_variant N38K 114C>G PACA-CA 14 73408515 73408515 single base substitution C G upstream_gene_variant PACA-CA 14 73410033 73410033 single base substitution G A downstream_gene_variant PACA-CA 14 73410033 73410033 single base substitution G A intron_variant PACA-CA 14 73420531 73420538 deletion of <=200bp TGTGTGTA - intron_variant PACA-CA 14 73420531 73420538 deletion of <=200bp TGTGTGTA - upstream_gene_variant PAEN-AU 14 73391268 73391268 single base substitution C T upstream_gene_variant PAEN-AU 14 73396972 73396972 single base substitution G A intron_variant PAEN-AU 14 73423649 73423649 single base substitution G A 3_prime_UTR_variant PAEN-AU 14 73423649 73423649 single base substitution G A intron_variant PAEN-AU 14 73423649 73423649 single base substitution G A upstream_gene_variant PAEN-IT 14 73409499 73409499 single base substitution C A downstream_gene_variant PAEN-IT 14 73409499 73409499 single base substitution C A exon_variant PAEN-IT 14 73409499 73409499 single base substitution C A intron_variant PBCA-DE 14 73394305 73394305 single base substitution C T intron_variant PBCA-DE 14 73394305 73394305 single base substitution C T upstream_gene_variant PBCA-DE 14 73395932 73395932 single base substitution G A intron_variant PBCA-DE 14 73395932 73395932 single base substitution G A upstream_gene_variant PBCA-DE 14 73403598 73403598 single base substitution A C intron_variant PBCA-DE 14 73403598 73403598 single base substitution A C upstream_gene_variant PBCA-DE 14 73407978 73407978 single base substitution G C downstream_gene_variant PBCA-DE 14 73407978 73407978 single base substitution G C intron_variant PBCA-DE 14 73407978 73407978 single base substitution G C upstream_gene_variant PBCA-DE 14 73414036 73414036 deletion of <=200bp A - downstream_gene_variant PBCA-DE 14 73414036 73414036 deletion of <=200bp A - intron_variant PRAD-CA 14 73395304 73395304 single base substitution T A intron_variant PRAD-CA 14 73395304 73395304 single base substitution T A upstream_gene_variant PRAD-CA 14 73400840 73400840 single base substitution C T intron_variant PRAD-CA 14 73400840 73400840 single base substitution C T upstream_gene_variant PRAD-CA 14 73428475 73428475 single base substitution G A downstream_gene_variant PRAD-CA 14 73429216 73429216 single base substitution A G downstream_gene_variant PRAD-UK 14 73388594 73388594 single base substitution G A upstream_gene_variant PRAD-UK 14 73391440 73391440 single base substitution C A upstream_gene_variant PRAD-UK 14 73414672 73414672 single base substitution C T downstream_gene_variant PRAD-UK 14 73414672 73414672 single base substitution C T intron_variant PRAD-UK 14 73420248 73420248 single base substitution A G intron_variant PRAD-UK 14 73421196 73421196 single base substitution G A intron_variant PRAD-UK 14 73421196 73421196 single base substitution G A splice_region_variant PRAD-UK 14 73421196 73421196 single base substitution G A upstream_gene_variant RECA-CN 14 73421137 73421137 single base substitution C A 3_prime_UTR_variant RECA-CN 14 73421137 73421137 single base substitution C A intron_variant RECA-CN 14 73421137 73421137 single base substitution C A missense_variant H217Q 651C>A RECA-CN 14 73421137 73421137 single base substitution C A missense_variant H257Q 771C>A RECA-CN 14 73421137 73421137 single base substitution C A missense_variant H317Q 951C>A RECA-CN 14 73421137 73421137 single base substitution C A missense_variant H318Q 954C>A RECA-CN 14 73421137 73421137 single base substitution C A upstream_gene_variant RECA-EU 14 73390646 73390646 single base substitution G A upstream_gene_variant SKCA-BR 14 73390629 73390629 single base substitution A T upstream_gene_variant SKCA-BR 14 73391383 73391383 single base substitution G C upstream_gene_variant SKCA-BR 14 73392839 73392839 single base substitution G T upstream_gene_variant SKCA-BR 14 73393092 73393092 single base substitution G A 5_prime_UTR_variant SKCA-BR 14 73393092 73393092 single base substitution G A upstream_gene_variant SKCA-BR 14 73394051 73394060 deletion of <=200bp CTTTTTTTTT - intron_variant SKCA-BR 14 73394051 73394060 deletion of <=200bp CTTTTTTTTT - upstream_gene_variant SKCA-BR 14 73395295 73395295 single base substitution A T intron_variant SKCA-BR 14 73395295 73395295 single base substitution A T upstream_gene_variant SKCA-BR 14 73396211 73396211 single base substitution C T intron_variant SKCA-BR 14 73396211 73396211 single base substitution C T upstream_gene_variant SKCA-BR 14 73402135 73402135 single base substitution G C intron_variant SKCA-BR 14 73402135 73402135 single base substitution G C upstream_gene_variant SKCA-BR 14 73402581 73402581 single base substitution T C intron_variant SKCA-BR 14 73402581 73402581 single base substitution T C upstream_gene_variant SKCA-BR 14 73403644 73403647 deletion of <=200bp GCCT - intron_variant SKCA-BR 14 73403644 73403647 deletion of <=200bp GCCT - upstream_gene_variant SKCA-BR 14 73403935 73403939 deletion of <=200bp CAGAT - intron_variant SKCA-BR 14 73403935 73403939 deletion of <=200bp CAGAT - upstream_gene_variant SKCA-BR 14 73404118 73404119 deletion of <=200bp CT - intron_variant SKCA-BR 14 73404118 73404119 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 14 73404949 73404949 single base substitution C T intron_variant SKCA-BR 14 73404949 73404949 single base substitution C T upstream_gene_variant SKCA-BR 14 73406236 73406236 single base substitution C T intron_variant SKCA-BR 14 73406236 73406236 single base substitution C T upstream_gene_variant SKCA-BR 14 73407296 73407296 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 14 73407296 73407296 insertion of <=200bp - GT intron_variant SKCA-BR 14 73407296 73407296 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 14 73410098 73410098 single base substitution C T downstream_gene_variant SKCA-BR 14 73410098 73410098 single base substitution C T intron_variant SKCA-BR 14 73410913 73410913 single base substitution C T downstream_gene_variant SKCA-BR 14 73410913 73410913 single base substitution C T intron_variant SKCA-BR 14 73414316 73414316 single base substitution A G downstream_gene_variant SKCA-BR 14 73414316 73414316 single base substitution A G intron_variant SKCA-BR 14 73415402 73415402 single base substitution C T downstream_gene_variant SKCA-BR 14 73415402 73415402 single base substitution C T intron_variant SKCA-BR 14 73415711 73415711 single base substitution C T downstream_gene_variant SKCA-BR 14 73415711 73415711 single base substitution C T intron_variant SKCA-BR 14 73416012 73416012 single base substitution C T downstream_gene_variant SKCA-BR 14 73416012 73416012 single base substitution C T intron_variant SKCA-BR 14 73417010 73417010 single base substitution T G downstream_gene_variant SKCA-BR 14 73417010 73417010 single base substitution T G intron_variant SKCA-BR 14 73419615 73419615 single base substitution C T intron_variant SKCA-BR 14 73420436 73420436 single base substitution A T intron_variant SKCA-BR 14 73420436 73420436 single base substitution A T upstream_gene_variant SKCA-BR 14 73421320 73421320 single base substitution C T intron_variant SKCA-BR 14 73421320 73421320 single base substitution C T upstream_gene_variant SKCA-BR 14 73425339 73425339 single base substitution G A 3_prime_UTR_variant SKCA-BR 14 73425339 73425339 single base substitution G A downstream_gene_variant SKCA-BR 14 73425339 73425339 single base substitution G A synonymous_variant T268T 804G>A SKCA-BR 14 73425339 73425339 single base substitution G A synonymous_variant T338T 1014G>A SKCA-BR 14 73425339 73425339 single base substitution G A synonymous_variant T378T 1134G>A SKCA-BR 14 73425339 73425339 single base substitution G A synonymous_variant T432T 1296G>A SKCA-BR 14 73425339 73425339 single base substitution G A synonymous_variant T438T 1314G>A SKCA-BR 14 73425339 73425339 single base substitution G A upstream_gene_variant SKCA-BR 14 73426290 73426290 single base substitution C T 3_prime_UTR_variant SKCA-BR 14 73426290 73426290 single base substitution C T downstream_gene_variant SKCA-BR 14 73429197 73429197 insertion of <=200bp - AACAC downstream_gene_variant SKCA-BR 14 73429755 73429755 single base substitution G A downstream_gene_variant SKCA-BR 14 73430524 73430524 single base substitution G T downstream_gene_variant SKCA-BR 14 73430791 73430791 single base substitution A G downstream_gene_variant SKCM-US 14 73406578 73406578 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 14 73406578 73406578 single base substitution C T exon_variant SKCM-US 14 73406578 73406578 single base substitution C T missense_variant S54L 161C>T SKCM-US 14 73406578 73406578 single base substitution C T upstream_gene_variant SKCM-US 14 73406971 73406971 single base substitution C T 5_prime_UTR_variant SKCM-US 14 73406971 73406971 single base substitution C T exon_variant SKCM-US 14 73406971 73406971 single base substitution C T synonymous_variant F79F 237C>T SKCM-US 14 73406971 73406971 single base substitution C T upstream_gene_variant SKCM-US 14 73409707 73409707 single base substitution C T 3_prime_UTR_variant SKCM-US 14 73409707 73409707 single base substitution C T downstream_gene_variant SKCM-US 14 73409707 73409707 single base substitution C T exon_variant SKCM-US 14 73409707 73409707 single base substitution C T intron_variant SKCM-US 14 73409707 73409707 single base substitution C T missense_variant A146V 437C>T SKCM-US 14 73409707 73409707 single base substitution C T missense_variant A46V 137C>T SKCM-US 14 73409708 73409708 single base substitution C T 3_prime_UTR_variant SKCM-US 14 73409708 73409708 single base substitution C T downstream_gene_variant SKCM-US 14 73409708 73409708 single base substitution C T exon_variant SKCM-US 14 73409708 73409708 single base substitution C T intron_variant SKCM-US 14 73409708 73409708 single base substitution C T synonymous_variant A146A 438C>T SKCM-US 14 73409708 73409708 single base substitution C T synonymous_variant A46A 138C>T SKCM-US 14 73409798 73409798 single base substitution C T 3_prime_UTR_variant SKCM-US 14 73409798 73409798 single base substitution C T downstream_gene_variant SKCM-US 14 73409798 73409798 single base substitution C T exon_variant SKCM-US 14 73409798 73409798 single base substitution C T intron_variant SKCM-US 14 73409798 73409798 single base substitution C T synonymous_variant L176L 528C>T SKCM-US 14 73409798 73409798 single base substitution C T synonymous_variant L76L 228C>T SKCM-US 14 73420935 73420935 single base substitution C T 3_prime_UTR_variant SKCM-US 14 73420935 73420935 single base substitution C T intron_variant SKCM-US 14 73420935 73420935 single base substitution C T missense_variant S191F 572C>T SKCM-US 14 73420935 73420935 single base substitution C T missense_variant S231F 692C>T SKCM-US 14 73420935 73420935 single base substitution C T missense_variant S291F 872C>T SKCM-US 14 73420935 73420935 single base substitution C T missense_variant S292F 875C>T SKCM-US 14 73420935 73420935 single base substitution C T upstream_gene_variant SKCM-US 14 73422349 73422349 single base substitution C T 3_prime_UTR_variant SKCM-US 14 73422349 73422349 single base substitution C T missense_variant S205F 614C>T SKCM-US 14 73422349 73422349 single base substitution C T missense_variant S275F 824C>T SKCM-US 14 73422349 73422349 single base substitution C T missense_variant S315F 944C>T SKCM-US 14 73422349 73422349 single base substitution C T missense_variant S369F 1106C>T SKCM-US 14 73422349 73422349 single base substitution C T missense_variant S375F 1124C>T SKCM-US 14 73422349 73422349 single base substitution C T upstream_gene_variant STAD-US 14 73413857 73413857 single base substitution C T 3_prime_UTR_variant STAD-US 14 73413857 73413857 single base substitution C T downstream_gene_variant STAD-US 14 73413857 73413857 single base substitution C T intron_variant STAD-US 14 73413857 73413857 single base substitution C T missense_variant S129L 386C>T STAD-US 14 73413857 73413857 single base substitution C T missense_variant S168L 503C>T STAD-US 14 73413857 73413857 single base substitution C T missense_variant S229L 686C>T STAD-US 14 73420907 73420907 single base substitution A T 3_prime_UTR_variant STAD-US 14 73420907 73420907 single base substitution A T intron_variant STAD-US 14 73420907 73420907 single base substitution A T missense_variant I182F 544A>T STAD-US 14 73420907 73420907 single base substitution A T missense_variant I222F 664A>T STAD-US 14 73420907 73420907 single base substitution A T missense_variant I282F 844A>T STAD-US 14 73420907 73420907 single base substitution A T missense_variant I283F 847A>T STAD-US 14 73420907 73420907 single base substitution A T upstream_gene_variant STAD-US 14 73421139 73421139 single base substitution G A 3_prime_UTR_variant STAD-US 14 73421139 73421139 single base substitution G A intron_variant STAD-US 14 73421139 73421139 single base substitution G A missense_variant R218Q 653G>A STAD-US 14 73421139 73421139 single base substitution G A missense_variant R258Q 773G>A STAD-US 14 73421139 73421139 single base substitution G A missense_variant R318Q 953G>A STAD-US 14 73421139 73421139 single base substitution G A missense_variant R319Q 956G>A STAD-US 14 73421139 73421139 single base substitution G A upstream_gene_variant STAD-US 14 73422256 73422256 single base substitution G A 3_prime_UTR_variant STAD-US 14 73422256 73422256 single base substitution G A missense_variant R174H 521G>A STAD-US 14 73422256 73422256 single base substitution G A missense_variant R244H 731G>A STAD-US 14 73422256 73422256 single base substitution G A missense_variant R284H 851G>A STAD-US 14 73422256 73422256 single base substitution G A missense_variant R338H 1013G>A STAD-US 14 73422256 73422256 single base substitution G A missense_variant R344H 1031G>A STAD-US 14 73422256 73422256 single base substitution G A upstream_gene_variant STAD-US 14 73422258 73422258 single base substitution T C 3_prime_UTR_variant STAD-US 14 73422258 73422258 single base substitution T C missense_variant S175P 523T>C STAD-US 14 73422258 73422258 single base substitution T C missense_variant S245P 733T>C STAD-US 14 73422258 73422258 single base substitution T C missense_variant S285P 853T>C STAD-US 14 73422258 73422258 single base substitution T C missense_variant S339P 1015T>C STAD-US 14 73422258 73422258 single base substitution T C missense_variant S345P 1033T>C STAD-US 14 73422258 73422258 single base substitution T C upstream_gene_variant STAD-US 14 73425339 73425339 single base substitution G A 3_prime_UTR_variant STAD-US 14 73425339 73425339 single base substitution G A downstream_gene_variant STAD-US 14 73425339 73425339 single base substitution G A synonymous_variant T268T 804G>A STAD-US 14 73425339 73425339 single base substitution G A synonymous_variant T338T 1014G>A STAD-US 14 73425339 73425339 single base substitution G A synonymous_variant T378T 1134G>A STAD-US 14 73425339 73425339 single base substitution G A synonymous_variant T432T 1296G>A STAD-US 14 73425339 73425339 single base substitution G A synonymous_variant T438T 1314G>A STAD-US 14 73425339 73425339 single base substitution G A upstream_gene_variant STAD-US 14 73425386 73425386 single base substitution C T 3_prime_UTR_variant STAD-US 14 73425386 73425386 single base substitution C T downstream_gene_variant STAD-US 14 73425386 73425386 single base substitution C T missense_variant S284F 851C>T STAD-US 14 73425386 73425386 single base substitution C T missense_variant S354F 1061C>T STAD-US 14 73425386 73425386 single base substitution C T missense_variant S394F 1181C>T STAD-US 14 73425386 73425386 single base substitution C T missense_variant S448F 1343C>T STAD-US 14 73425386 73425386 single base substitution C T missense_variant S454F 1361C>T STAD-US 14 73425386 73425386 single base substitution C T upstream_gene_variant STAD-US 14 73425480 73425480 single base substitution C T 3_prime_UTR_variant STAD-US 14 73425480 73425480 single base substitution C T downstream_gene_variant STAD-US 14 73425480 73425480 single base substitution C T exon_variant STAD-US 14 73425480 73425480 single base substitution C T synonymous_variant V315V 945C>T STAD-US 14 73425480 73425480 single base substitution C T synonymous_variant V385V 1155C>T STAD-US 14 73425480 73425480 single base substitution C T synonymous_variant V425V 1275C>T STAD-US 14 73425480 73425480 single base substitution C T synonymous_variant V479V 1437C>T STAD-US 14 73425480 73425480 single base substitution C T synonymous_variant V485V 1455C>T THCA-SA 14 73425462 73425462 single base substitution G A 3_prime_UTR_variant THCA-SA 14 73425462 73425462 single base substitution G A downstream_gene_variant THCA-SA 14 73425462 73425462 single base substitution G A exon_variant THCA-SA 14 73425462 73425462 single base substitution G A synonymous_variant P309P 927G>A THCA-SA 14 73425462 73425462 single base substitution G A synonymous_variant P379P 1137G>A THCA-SA 14 73425462 73425462 single base substitution G A synonymous_variant P419P 1257G>A THCA-SA 14 73425462 73425462 single base substitution G A synonymous_variant P473P 1419G>A THCA-SA 14 73425462 73425462 single base substitution G A synonymous_variant P479P 1437G>A UCEC-US 14 73404734 73404734 single base substitution C T 5_prime_UTR_variant UCEC-US 14 73404734 73404734 single base substitution C T exon_variant UCEC-US 14 73404734 73404734 single base substitution C T intron_variant UCEC-US 14 73404734 73404734 single base substitution C T synonymous_variant S16S 48C>T UCEC-US 14 73404734 73404734 single base substitution C T upstream_gene_variant UCEC-US 14 73407009 73407009 single base substitution C T 3_prime_UTR_variant UCEC-US 14 73407009 73407009 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 14 73407009 73407009 single base substitution C T downstream_gene_variant UCEC-US 14 73407009 73407009 single base substitution C T exon_variant UCEC-US 14 73407009 73407009 single base substitution C T missense_variant T92M 275C>T UCEC-US 14 73407009 73407009 single base substitution C T upstream_gene_variant UCEC-US 14 73409754 73409754 single base substitution C T 3_prime_UTR_variant UCEC-US 14 73409754 73409754 single base substitution C T downstream_gene_variant UCEC-US 14 73409754 73409754 single base substitution C T exon_variant UCEC-US 14 73409754 73409754 single base substitution C T intron_variant UCEC-US 14 73409754 73409754 single base substitution C T stop_gained R162* 484C>T UCEC-US 14 73409754 73409754 single base substitution C T stop_gained R62* 184C>T UCEC-US 14 73413872 73413872 single base substitution C T 3_prime_UTR_variant UCEC-US 14 73413872 73413872 single base substitution C T downstream_gene_variant UCEC-US 14 73413872 73413872 single base substitution C T intron_variant UCEC-US 14 73413872 73413872 single base substitution C T missense_variant S134L 401C>T UCEC-US 14 73413872 73413872 single base substitution C T missense_variant S173L 518C>T UCEC-US 14 73413872 73413872 single base substitution C T missense_variant S234L 701C>T UCEC-US 14 73418569 73418569 single base substitution C T 3_prime_UTR_variant UCEC-US 14 73418569 73418569 single base substitution C T intron_variant UCEC-US 14 73418569 73418569 single base substitution C T synonymous_variant F164F 492C>T UCEC-US 14 73418569 73418569 single base substitution C T synonymous_variant F203F 609C>T UCEC-US 14 73418569 73418569 single base substitution C T synonymous_variant F264F 792C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A3JI-06 COSM3497726 c.237C>T p.F79F Substitution - coding silent 14:72940263-72940263 + TCGA-D1-A0ZO-01 COSM957558 c.48C>T p.S16S Substitution - coding silent 14:72938026-72938026 + SA083 COSM213445 c.1039G>A p.E347K Substitution - Missense 14:72955556-72955556 + PTC-10C COSM957564 c.792C>T p.F264F Substitution - coding silent 14:72951861-72951861 + TCGA-DA-A1HY-06 COSM3497728 c.438C>T p.A146A Substitution - coding silent 14:72943000-72943000 + CHC314T COSM4957112 c.12T>C p.S4S Substitution - coding silent 14:72937990-72937990 + S00501 COSM5658219 c.838T>A p.F280I Substitution - Missense 14:72954193-72954193 + ccRCC-36 COSM1661376 c.1135C>A p.L379I Substitution - Missense 14:72955652-72955652 + LP6005690-DNA_B02 COSM5035193 c.1383C>T p.A461A Substitution - coding silent 14:72958700-72958700 + TCGA-AX-A05Z-01 COSM957564 c.792C>T p.F264F Substitution - coding silent 14:72951861-72951861 + S02398 COSM5699586 c.1347G>A p.L449L Substitution - coding silent 14:72958664-72958664 + K44-Tumor COSM249220 c.951C>A p.H317Q Substitution - Missense 14:72954429-72954429 + AOCS-161-1-9 COSM3983682 c.359G>A p.R120K Substitution - Missense 14:72941752-72941752 + CHC314T COSM4957112 c.12T>C p.S4S Substitution - coding silent 14:72937990-72937990 + TCGA-D8-A1XK-01 COSM3815242 c.375A>T p.A125A Substitution - coding silent 14:72941768-72941768 + YUMOKI COSM5382607 c.504C>T p.A168A Substitution - coding silent 14:72943066-72943066 + SNUH_G73_S1 COSM3754081 c.1125T>G p.S375S Substitution - coding silent 14:72955642-72955642 + TCGA-CK-5916-01 COSM3690298 c.135C>T p.H45H Substitution - coding silent 14:72939844-72939844 + 2293747 COSM4606654 c.1343T>G p.L448R Substitution - Missense 14:72958660-72958660 + ESO-K08 COSM1249736 c.225G>C p.K75N Substitution - Missense 14:72940251-72940251 + TCGA-A6-6780-01 COSM1370903 c.293_295delAGA p.K99delK Deletion - In frame 14:72940319-72940321 + SNUH_G76_S1 COSM3754079 c.66G>C p.W22C Substitution - Missense 14:72938044-72938044 + PTC-7C COSM3754079 c.66G>C p.W22C Substitution - Missense 14:72938044-72938044 + RK209_C01 COSM1629395 c.1012C>G p.L338V Substitution - Missense 14:72955529-72955529 + TCGA-D1-A17Q-01 COSM957561 c.484C>T p.R162* Substitution - Nonsense 14:72943046-72943046 + TCGA-56-6546-01 COSM698748 c.143A>G p.D48G Substitution - Missense 14:72939852-72939852 + CLL008 COSM1290317 c.774G>A p.L258L Substitution - coding silent 14:72951843-72951843 + T3498 COSM2136772 c.448C>T p.R150C Substitution - Missense 14:72943010-72943010 + TCGA-BR-8382-01 COSM4052215 c.1033T>C p.S345P Substitution - Missense 14:72955550-72955550 + TCGA-BR-4368-01 COSM4052216 c.1361C>T p.S454F Substitution - Missense 14:72958678-72958678 + TCGA-BR-4361-01 COSM4052212 c.844A>T p.I282F Substitution - Missense 14:72954199-72954199 + Gp5D COSM2136780 c.747C>T p.L249L Substitution - coding silent 14:72951816-72951816 + SNUH_G73_S1 COSM3999364 c.678+4C>T p.? Unknown 14:72946031-72946031 + BRC50 COSM5027883 c.1276G>A p.E426K Substitution - Missense 14:72956482-72956482 + 0059_CRUK_PC_0059_T1_DNA COSM5423025 c.1005+5G>A p.? Unknown 14:72954488-72954488 + TCGA-CG-5726-01 COSM2136795 c.1314G>A p.T438T Substitution - coding silent 14:72958631-72958631 + TCGA-BR-8680-01 COSM4052211 c.686C>T p.S229L Substitution - Missense 14:72947149-72947149 + S00501 COSM5658220 c.1003A>G p.M335V Substitution - Missense 14:72954481-72954481 + TCGA-A5-A0GA-01 COSM957562 c.535-2A>G p.? Unknown 14:72945882-72945882 + PD9589a COSM5793244 c.1206G>A p.T402T Substitution - coding silent 14:72956412-72956412 + TCGA-23-1122-01 COSM70399 c.871T>A p.S291T Substitution - Missense 14:72954226-72954226 + T578 COSM957561 c.484C>T p.R162* Substitution - Nonsense 14:72943046-72943046 + TCGA-A8-A0A6-01 COSM3815243 c.769A>C p.T257P Substitution - Missense 14:72951838-72951838 + CAL27 COSM4594026 c.923T>G p.V308G Substitution - Missense 14:72954401-72954401 + T16 COSM5342486 c.1426C>T p.R476W Substitution - Missense 14:72958743-72958743 + Br27P COSM40759 c.932C>T p.T311I Substitution - Missense 14:72954410-72954410 + TCGA-G2-A2EO-01 COSM1300801 c.75C>G p.L25L Substitution - coding silent 14:72938053-72938053 + sysucc-311T COSM2136775 c.571G>A p.D191N Substitution - Missense 14:72945920-72945920 + ML_04_T_01 COSM2136795 c.1314G>A p.T438T Substitution - coding silent 14:72958631-72958631 + ZZUFHECRKL-G060T COSM3754082 c.1437G>A p.P479P Substitution - coding silent 14:72958754-72958754 + TCGA-G4-6586-01 COSM1370905 c.1411C>T p.R471W Substitution - Missense 14:72958728-72958728 + CN-AML-NR-08-Dx COSM3754082 c.1437G>A p.P479P Substitution - coding silent 14:72958754-72958754 + C113 COSM4052211 c.686C>T p.S229L Substitution - Missense 14:72947149-72947149 + TCGA-EJ-7123-01 COSM3671954 c.1096C>A p.R366S Substitution - Missense 14:72955613-72955613 + SNUH_G26_S1 COSM3999364 c.678+4C>T p.? Unknown 14:72946031-72946031 + 409 COSM4430654 c.230G>A p.R77H Substitution - Missense 14:72940256-72940256 + SNUH_G26_S1 COSM3754081 c.1125T>G p.S375S Substitution - coding silent 14:72955642-72955642 + SNU-C2B COSM2136775 c.571G>A p.D191N Substitution - Missense 14:72945920-72945920 + TCGA-AP-A056-01 COSM957561 c.484C>T p.R162* Substitution - Nonsense 14:72943046-72943046 + Pat_01_B COSM5848477 c.31C>T p.R11* Substitution - Nonsense 14:72938009-72938009 + QC2-42-T2 COSM5656247 c.130G>C p.G44R Substitution - Missense 14:72939839-72939839 + CSCC-42-T COSM2136768 c.161C>T p.S54L Substitution - Missense 14:72939870-72939870 + TCGA-EE-A181-06 COSM3497729 c.528C>T p.L176L Substitution - coding silent 14:72943090-72943090 + SNUH_G45_S1 COSM3677980 c.66G>T p.W22C Substitution - Missense 14:72938044-72938044 + CHEWS028 COSM4577998 c.1282A>T p.I428F Substitution - Missense 14:72956488-72956488 + TCGA-AM-5820-01 COSM3754080 c.1034C>G p.S345C Substitution - Missense 14:72955551-72955551 + TCGA-18-3411-01 COSM698746 c.1413G>T p.R471R Substitution - coding silent 14:72958730-72958730 + LUAD-RT-S01702 COSM379038 c.1409C>T p.S470L Substitution - Missense 14:72958726-72958726 + CSCC-41-T COSM4460299 c.1160C>T p.A387V Substitution - Missense 14:72955677-72955677 + 24T COSM110262 c.225G>A p.K75K Substitution - coding silent 14:72940251-72940251 + TCGA-BR-8686-01 COSM459116 c.1455C>T p.V485V Substitution - coding silent 14:72958772-72958772 + TCGA-FU-A23L-01 COSM459116 c.1455C>T p.V485V Substitution - coding silent 14:72958772-72958772 + Pat_41_B COSM5848478 c.1137_1138delCC p.Q380fs*2 Deletion - Frameshift 14:72955654-72955655 + SNU-175 COSM2136770 c.319C>T p.R107W Substitution - Missense 14:72940345-72940345 + Pat_04_B COSM5148305 c.1424C>T p.S475F Substitution - Missense 14:72958741-72958741 + 12820 COSM5614157 c.650A>C p.H217P Substitution - Missense 14:72945999-72945999 + TCGA-AM-5820-01 COSM3754079 c.66G>C p.W22C Substitution - Missense 14:72938044-72938044 + 587226 COSM1203061 c.1130G>A p.R377Q Substitution - Missense 14:72955647-72955647 + K44 COSM249220 c.951C>A p.H317Q Substitution - Missense 14:72954429-72954429 + TCGA-AM-5821-01 COSM3754081 c.1125T>G p.S375S Substitution - coding silent 14:72955642-72955642 + YUSEL COSM1707556 c.731T>C p.L244P Substitution - Missense 14:72951800-72951800 + PD24209a COSM5780982 c.704T>C p.L235P Substitution - Missense 14:72947167-72947167 + TCGA-A3-3374-01 COSM1493307 c.1124C>A p.S375Y Substitution - Missense 14:72955641-72955641 + RKO COSM4647780 c.267C>T p.N89N Substitution - coding silent 14:72940293-72940293 + TCGA-B5-A0JY-01 COSM957563 c.701C>T p.S234L Substitution - Missense 14:72947164-72947164 + 19M COSM5578375 c.1157T>A p.M386K Substitution - Missense 14:72955674-72955674 + WSU-HN12 COSM4601359 c.235T>G p.F79V Substitution - Missense 14:72940261-72940261 + Pat_04_A COSM5148305 c.1424C>T p.S475F Substitution - Missense 14:72958741-72958741 + TCGA-D1-A17U-01 COSM957560 c.417C>G p.V139V Substitution - coding silent 14:72941810-72941810 + D7 COSM5007671 c.1332C>T p.H444H Substitution - coding silent 14:72958649-72958649 + Gp2D COSM2136780 c.747C>T p.L249L Substitution - coding silent 14:72951816-72951816 + TCGA-EB-A431-01 COSM3497731 c.1124C>T p.S375F Substitution - Missense 14:72955641-72955641 + 3N46-VS-3T46 COSM4982462 c.1359C>T p.P453P Substitution - coding silent 14:72958676-72958676 + CSCC-29-T COSM4510885 c.847C>T p.P283S Substitution - Missense 14:72954202-72954202 + 61 COSM5740160 c.162G>A p.S54S Substitution - coding silent 14:72939871-72939871 + TCGA-BQ-5875-01 COSM3987774 c.678G>A p.K226K Substitution - coding silent 14:72946027-72946027 + BD124T COSM2136791 c.1269C>T p.H423H Substitution - coding silent 14:72956475-72956475 + C0047T COSM3754081 c.1125T>G p.S375S Substitution - coding silent 14:72955642-72955642 + TCGA-CG-4437-01 COSM4052214 c.1031G>A p.R344H Substitution - Missense 14:72955548-72955548 + CSCC-31-T COSM4543668 c.341G>A p.R114K Substitution - Missense 14:72940367-72940367 + TCGA-ER-A19O-06 COSM3497727 c.437C>T p.A146V Substitution - Missense 14:72942999-72942999 + T3498 COSM4676362 c.897C>G p.C299W Substitution - Missense 14:72954252-72954252 + I2L-P7-Tumor-Organoid COSM5362350 c.267delC p.L91fs*1 Deletion - Frameshift 14:72940293-72940293 + TCGA-AA-3855-01 COSM295798 c.1433C>T p.A478V Substitution - Missense 14:72958750-72958750 + TCGA-FS-A4FC-06 COSM2136768 c.161C>T p.S54L Substitution - Missense 14:72939870-72939870 + AOCS-145-1-6 COSM3983683 c.1270G>A p.E424K Substitution - Missense 14:72956476-72956476 + CN-AML-08-T COSM3754082 c.1437G>A p.P479P Substitution - coding silent 14:72958754-72958754 + PT27 COSM5905953 c.673C>T p.R225W Substitution - Missense 14:72946022-72946022 + HCC021T COSM5815812 c.431A>T p.H144L Substitution - Missense 14:72941824-72941824 + TCGA-26-5133 COSM2157683 c.1027_1028insG p.C343fs*10 Insertion - Frameshift 14:72955544-72955545 + SNUH_G76_S1 COSM3754080 c.1034C>G p.S345C Substitution - Missense 14:72955551-72955551 + TCGA-06-0169 COSM2157683 c.1027_1028insG p.C343fs*10 Insertion - Frameshift 14:72955544-72955545 + TCGA-85-6561-01 COSM698747 c.652G>T p.E218* Substitution - Nonsense 14:72946001-72946001 + 8058184 COSM3386671 c.679-5A>C p.? Unknown 14:72947137-72947137 + T3064 COSM4676361 c.658C>T p.L220F Substitution - Missense 14:72946007-72946007 + 2250188 COSM5030206 c.1344A>T p.L448L Substitution - coding silent 14:72958661-72958661 + ME049T COSM230289 c.389G>A p.R130Q Substitution - Missense 14:72941782-72941782 + S00944 COSM5664067 c.518G>T p.R173L Substitution - Missense 14:72943080-72943080 + TCGA-FS-A1ZK-06 COSM3497730 c.872C>T p.S291F Substitution - Missense 14:72954227-72954227 + TCGA-BS-A0UL-01 COSM957559 c.275C>T p.T92M Substitution - Missense 14:72940301-72940301 + TCGA-BR-8078-01 COSM4052213 c.953G>A p.R318Q Substitution - Missense 14:72954431-72954431 + Pat_32_A COSM4052211 c.686C>T p.S229L Substitution - Missense 14:72947149-72947149 + TCGA-AM-5820-01 COSM3754082 c.1437G>A p.P479P Substitution - coding silent 14:72958754-72958754 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.331438;Hs.331481;Hs.331491 14q24.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H217P c.650A>C 14 73412707 NSCLC AC TT MultiAAMissense p.R10_R11delinsS* c.30_31delinsTT 14 73404716 CM A G IntronicSNV . c.809-5A>G 14 73420867 STAD A G Missense p.D48G c.143A>G 14 73406560 LUSC C G Synonymous p.L25L c.75C>G 14 73404761 BLCA C T Missense p.A146V c.437C>T 14 73409707 CM C T Missense p.A478V c.1433C>T 14 73425458 COREAD C T Missense p.P269S c.805C>T 14 73418582 COREAD C T Missense p.S291F c.872C>T 14 73420935 CM C T Missense p.S43F c.128C>T 14 73406545 CM C T Missense p.S454F c.1361C>T 14 73425386 STAD C T Missense p.T92M c.275C>T 14 73407009 UCEC C T Synonymous p.A146A c.438C>T 14 73409708 CM C T Synonymous p.F264F c.792C>T 14 73418569 CM C T Synonymous p.F79F c.237C>T 14 73406971 CM C T Synonymous p.L176L c.528C>T 14 73409798 CM C T Synonymous p.S16S c.48C>T 14 73404734 UCEC C T Synonymous p.S454S c.1362C>T 14 73425387 CM G A Missense p.E347K c.1039G>A 14 73422264 BRCA G A Missense p.E426K c.1276G>A 14 73423190 BRCA G A Missense p.R344H c.1031G>A 14 73422256 STAD G A Missense p.R366H c.1097G>A 14 73422322 HNSC G A SpliceDonorSNV . c.92+1G>A 14 73404779 HNSC G A Synonymous p.A478A c.1434G>A 14 73425459 CM G A Synonymous p.G13G c.39G>A 14 73404725 MM G A Synonymous p.L258L c.774G>A 14 73418551 CLL G A Synonymous p.T438T c.1314G>A 14 73425339 STAD G C Missense p.K75N c.225G>C 14 73406959 ESCA G C SpliceAcceptorSNV . c.352-1G>C 14 73408452 HNSC G T Missense p.G316V c.947G>T 14 73421133 LUAD G T Nonsense p.E218* c.652G>T 14 73412709 LUSC G T Synonymous p.R471R c.1413G>T 14 73425438 LUSC T A Missense p.F349Y c.1046T>A 14 73422271 CM T A Missense p.S291T c.871T>A 14 73420934 OV