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 8 385664 385664 + Nonsense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr8:385664C>G c.338C>G c.(337-339)tCa>tGa p.S113* BRCA 8 385683 385683 + Silent SNP C C A TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr8:385683C>A c.357C>A c.(355-357)atC>atA p.I119I BRCA 8 413124 413124 + Missense_Mutation SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 g.chr8:413124C>T c.961C>T c.(961-963)Cgg>Tgg p.R321W BRCA 8 417720 417720 + Splice_Site SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 g.chr8:417720G>T c.988G>T c.(988-990)Gac>Tac p.D330Y CESC 8 363141 363141 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr8:363141G>T c.62G>T c.(61-63)gGc>gTc p.G21V CESC 8 382894 382894 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 g.chr8:382894C>T c.247C>T c.(247-249)Cgt>Tgt p.R83C CESC 8 400077 400077 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr8:400077C>G c.469C>G c.(469-471)Caa>Gaa p.Q157E COAD 8 381399 381399 + Frame_Shift_Del DEL A A - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:381399delA c.193delA c.(193-195)aaafs p.K66fs COAD 8 401361 401361 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr8:401361T>C c.568T>C c.(568-570)Tct>Cct p.S190P COAD 8 408541 408541 + Missense_Mutation SNP C C A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr8:408541C>A c.833C>A c.(832-834)gCt>gAt p.A278D COAD 8 418787 418787 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr8:418787G>A c.1087G>A c.(1087-1089)Gac>Aac p.D363N COADREAD 8 381399 381399 + Frame_Shift_Del DEL A A - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:381399delA c.193delA c.(193-195)aaafs p.K66fs COADREAD 8 382885 382885 + Splice_Site SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:382885G>T c.e4-1 COADREAD 8 401361 401361 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr8:401361T>C c.568T>C c.(568-570)Tct>Cct p.S190P COADREAD 8 401363 401363 + Silent SNP T T C TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr8:401363T>C c.570T>C c.(568-570)tcT>tcC p.S190S COADREAD 8 408541 408541 + Missense_Mutation SNP C C A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr8:408541C>A c.833C>A c.(832-834)gCt>gAt p.A278D COADREAD 8 418787 418787 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr8:418787G>A c.1087G>A c.(1087-1089)Gac>Aac p.D363N ESCA 8 382898 382898 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr8:382898delA c.251delA c.(250-252)gaafs p.E84fs ESCA 8 408445 408445 + Missense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr8:408445G>T c.737G>T c.(736-738)gGa>gTa p.G246V GBMLGG 8 381365 381365 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:381365A>G c.159A>G c.(157-159)gaA>gaG p.E53E GBMLGG 8 418714 418714 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:418714G>T c.e11-1 HNSC 8 363094 363094 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:363094T>C c.15T>C c.(13-15)ggT>ggC p.G5G HNSC 8 381399 381399 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:381399delA c.193delA c.(193-195)aaafs p.K66fs HNSC 8 381402 381402 + Nonsense_Mutation SNP A A T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr8:381402A>T c.196A>T c.(196-198)Aaa>Taa p.K66* HNSC 8 381441 381441 + Missense_Mutation SNP C C G TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr8:381441C>G c.235C>G c.(235-237)Caa>Gaa p.Q79E HNSC 8 385615 385615 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr8:385615A>G c.289A>G c.(289-291)Agg>Ggg p.R97G HNSC 8 408518 408518 + Missense_Mutation SNP G G C TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr8:408518G>C c.810G>C c.(808-810)aaG>aaC p.K270N LGG 8 381365 381365 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:381365A>G c.159A>G c.(157-159)gaA>gaG p.E53E LGG 8 418714 418714 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr8:418714G>T c.e11-1 LIHC 8 363195 363195 + Missense_Mutation SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr8:363195G>A c.116G>A c.(115-117)tGt>tAt p.C39Y LIHC 8 408474 408474 + Missense_Mutation SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr8:408474A>G c.766A>G c.(766-768)Acc>Gcc p.T256A LUAD 8 401310 401310 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr8:401310C>G c.517C>G c.(517-519)Ctg>Gtg p.L173V LUAD 8 408529 408529 + Missense_Mutation SNP A A G TCGA-17-Z027-01A-01W-0746-08 TCGA-17-Z027-11A-01W-0746-08 g.chr8:408529A>G c.821A>G c.(820-822)cAg>cGg p.Q274R LUAD 8 413123 413123 + Silent SNP T T C TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr8:413123T>C c.960T>C c.(958-960)tgT>tgC p.C320C LUSC 8 401300 401300 + Missense_Mutation SNP C C G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr8:401300C>G c.507C>G c.(505-507)atC>atG p.I169M OV 8 418740 418740 + Missense_Mutation SNP C C A TCGA-13-0906-01A-01W-0419-10 TCGA-13-0906-10A-01W-0419-10 g.chr8:418740C>A c.1040C>A c.(1039-1041)gCc>gAc p.A347D PAAD 8 418787 418787 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:418787G>A c.1087G>A c.(1087-1089)Gac>Aac p.D363N READ 8 382885 382885 + Splice_Site SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:382885G>T c.e4-1 READ 8 401363 401363 + Silent SNP T T C TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr8:401363T>C c.570T>C c.(568-570)tcT>tcC p.S190S SKCM 8 381441 381441 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr8:381441C>A c.235C>A c.(235-237)Caa>Aaa p.Q79K SKCM 8 385683 385683 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr8:385683C>T c.357C>T c.(355-357)atC>atT p.I119I SKCM 8 400073 400073 + Silent SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr8:400073C>T c.465C>T c.(463-465)atC>atT p.I155I SKCM 8 401279 401279 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 g.chr8:401279C>T c.486C>T c.(484-486)gaC>gaT p.D162D

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 8 385664 385664 single base substitution C G exon_variant BLCA-US 8 385664 385664 single base substitution C G stop_gained S113* 338C>G BLCA-US 8 385664 385664 single base substitution C G stop_gained S46* 137C>G BOCA-FR 8 408027 408027 single base substitution A G intron_variant BOCA-FR 8 408027 408027 single base substitution A G upstream_gene_variant BOCA-FR 8 408029 408029 single base substitution A G intron_variant BOCA-FR 8 408029 408029 single base substitution A G upstream_gene_variant BRCA-EU 8 352056 352056 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 353217 353217 single base substitution T C upstream_gene_variant BRCA-EU 8 353706 353706 single base substitution C G upstream_gene_variant BRCA-EU 8 356755 356755 insertion of <=200bp - CCCCACGC intron_variant BRCA-EU 8 356755 356755 insertion of <=200bp - CCCCACGC upstream_gene_variant BRCA-EU 8 356881 356881 single base substitution A T 5_prime_UTR_variant BRCA-EU 8 356881 356881 single base substitution A T intron_variant BRCA-EU 8 356881 356881 single base substitution A T upstream_gene_variant BRCA-EU 8 357894 357894 single base substitution C T intron_variant BRCA-EU 8 358899 358900 deletion of <=200bp AA - intron_variant BRCA-EU 8 358899 358900 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 8 359227 359227 single base substitution C T intron_variant BRCA-EU 8 359227 359227 single base substitution C T upstream_gene_variant BRCA-EU 8 359300 359300 single base substitution A G intron_variant BRCA-EU 8 359300 359300 single base substitution A G upstream_gene_variant BRCA-EU 8 361018 361018 insertion of <=200bp - T intron_variant BRCA-EU 8 361018 361018 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 362131 362131 deletion of <=200bp T - intron_variant BRCA-EU 8 362131 362131 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 363442 363442 single base substitution A G intron_variant BRCA-EU 8 364758 364758 single base substitution C T intron_variant BRCA-EU 8 365385 365385 single base substitution C G intron_variant BRCA-EU 8 372117 372117 single base substitution A G intron_variant BRCA-EU 8 372775 372775 single base substitution C G intron_variant BRCA-EU 8 376841 376841 single base substitution C G intron_variant BRCA-EU 8 377274 377274 single base substitution A C intron_variant BRCA-EU 8 378161 378161 single base substitution C A intron_variant BRCA-EU 8 379213 379213 single base substitution T C intron_variant BRCA-EU 8 381051 381051 single base substitution A T intron_variant BRCA-EU 8 381051 381051 single base substitution A T upstream_gene_variant BRCA-EU 8 383735 383735 single base substitution G A intron_variant BRCA-EU 8 383735 383735 single base substitution G A upstream_gene_variant BRCA-EU 8 385345 385345 single base substitution G A intron_variant BRCA-EU 8 385345 385345 single base substitution G A upstream_gene_variant BRCA-EU 8 385503 385503 deletion of <=200bp A - exon_variant BRCA-EU 8 385503 385503 deletion of <=200bp A - intron_variant BRCA-EU 8 386598 386598 deletion of <=200bp C - downstream_gene_variant BRCA-EU 8 386598 386598 deletion of <=200bp C - intron_variant BRCA-EU 8 388314 388314 single base substitution C T downstream_gene_variant BRCA-EU 8 388314 388314 single base substitution C T intron_variant BRCA-EU 8 389109 389109 single base substitution C T downstream_gene_variant BRCA-EU 8 389109 389109 single base substitution C T intron_variant BRCA-EU 8 389268 389268 single base substitution C A downstream_gene_variant BRCA-EU 8 389268 389268 single base substitution C A intron_variant BRCA-EU 8 392373 392373 single base substitution T G intron_variant BRCA-EU 8 392684 392684 single base substitution G A intron_variant BRCA-EU 8 392938 392938 single base substitution C A intron_variant BRCA-EU 8 396225 396225 single base substitution G A intron_variant BRCA-EU 8 396453 396453 single base substitution C T intron_variant BRCA-EU 8 397448 397448 single base substitution C T intron_variant BRCA-EU 8 400163 400163 single base substitution T G intron_variant BRCA-EU 8 402530 402530 single base substitution C A downstream_gene_variant BRCA-EU 8 402530 402530 single base substitution C A intron_variant BRCA-EU 8 404120 404120 single base substitution G A downstream_gene_variant BRCA-EU 8 404120 404120 single base substitution G A intron_variant BRCA-EU 8 404120 404120 single base substitution G A upstream_gene_variant BRCA-EU 8 404844 404844 single base substitution T A downstream_gene_variant BRCA-EU 8 404844 404844 single base substitution T A intron_variant BRCA-EU 8 404844 404844 single base substitution T A upstream_gene_variant BRCA-EU 8 407835 407835 single base substitution C A intron_variant BRCA-EU 8 407835 407835 single base substitution C A upstream_gene_variant BRCA-EU 8 409182 409182 single base substitution C T intron_variant BRCA-EU 8 409244 409244 single base substitution C T intron_variant BRCA-EU 8 409299 409299 single base substitution G A intron_variant BRCA-EU 8 410455 410455 deletion of <=200bp A - intron_variant BRCA-EU 8 410455 410455 insertion of <=200bp - A intron_variant BRCA-EU 8 411952 411952 single base substitution T A intron_variant BRCA-EU 8 413521 413521 single base substitution G A intron_variant BRCA-EU 8 413526 413526 single base substitution C A intron_variant BRCA-EU 8 416250 416250 single base substitution C G intron_variant BRCA-EU 8 416250 416250 single base substitution C G upstream_gene_variant BRCA-EU 8 418202 418202 single base substitution C G downstream_gene_variant BRCA-EU 8 418202 418202 single base substitution C G intron_variant BRCA-EU 8 418202 418202 single base substitution C G upstream_gene_variant BRCA-EU 8 419306 419306 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 419306 419306 single base substitution G A downstream_gene_variant BRCA-EU 8 419306 419306 single base substitution G A intron_variant BRCA-EU 8 419517 419517 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 419517 419517 single base substitution C T downstream_gene_variant BRCA-EU 8 419517 419517 single base substitution C T intron_variant BRCA-EU 8 422598 422598 single base substitution G C downstream_gene_variant BRCA-EU 8 423236 423236 single base substitution G A downstream_gene_variant BRCA-EU 8 424804 424804 single base substitution C G downstream_gene_variant BRCA-EU 8 425380 425380 single base substitution C T downstream_gene_variant BRCA-EU 8 426046 426061 deletion of <=200bp TTCTATTCCCAATTGT - downstream_gene_variant BRCA-FR 8 378161 378161 single base substitution C A intron_variant BRCA-FR 8 385939 385939 single base substitution C T downstream_gene_variant BRCA-FR 8 385939 385939 single base substitution C T intron_variant BRCA-FR 8 392684 392684 single base substitution G A intron_variant BRCA-FR 8 395965 395965 single base substitution C G intron_variant BRCA-FR 8 404844 404844 single base substitution T A downstream_gene_variant BRCA-FR 8 404844 404844 single base substitution T A intron_variant BRCA-FR 8 404844 404844 single base substitution T A upstream_gene_variant BRCA-FR 8 408443 408443 single base substitution C T exon_variant BRCA-FR 8 408443 408443 single base substitution C T synonymous_variant D178D 534C>T BRCA-FR 8 408443 408443 single base substitution C T synonymous_variant D245D 735C>T BRCA-FR 8 408443 408443 single base substitution C T upstream_gene_variant BRCA-FR 8 409244 409244 single base substitution C T intron_variant BRCA-FR 8 419517 419517 single base substitution C T 3_prime_UTR_variant BRCA-FR 8 419517 419517 single base substitution C T downstream_gene_variant BRCA-FR 8 419517 419517 single base substitution C T intron_variant BRCA-FR 8 423483 423483 single base substitution G T downstream_gene_variant BRCA-UK 8 355157 355157 single base substitution C T upstream_gene_variant BRCA-UK 8 394482 394482 single base substitution C G intron_variant BRCA-US 8 385683 385683 single base substitution C A exon_variant BRCA-US 8 385683 385683 single base substitution C A synonymous_variant I119I 357C>A BRCA-US 8 385683 385683 single base substitution C A synonymous_variant I52I 156C>A BRCA-US 8 413124 413124 single base substitution C T exon_variant BRCA-US 8 413124 413124 single base substitution C T missense_variant R254W 760C>T BRCA-US 8 413124 413124 single base substitution C T missense_variant R321W 961C>T BRCA-US 8 417720 417720 single base substitution G T intron_variant BRCA-US 8 417720 417720 single base substitution G T missense_variant D330Y 988G>T BRCA-US 8 417720 417720 single base substitution G T splice_region_variant BRCA-US 8 417720 417720 single base substitution G T upstream_gene_variant BTCA-JP 8 413006 413006 single base substitution G T splice_acceptor_variant BTCA-JP 8 417664 417664 deletion of <=200bp T - intron_variant BTCA-JP 8 417664 417664 deletion of <=200bp T - upstream_gene_variant BTCA-JP 8 418816 418816 single base substitution G A 3_prime_UTR_variant BTCA-JP 8 418816 418816 single base substitution G A downstream_gene_variant CESC-US 8 363141 363141 single base substitution G T 5_prime_UTR_variant CESC-US 8 363141 363141 single base substitution G T missense_variant G21V 62G>T CESC-US 8 382894 382894 single base substitution C T intron_variant CESC-US 8 382894 382894 single base substitution C T missense_variant R83C 247C>T CESC-US 8 382894 382894 single base substitution C T upstream_gene_variant CESC-US 8 400077 400077 single base substitution C G exon_variant CESC-US 8 400077 400077 single base substitution C G missense_variant Q157E 469C>G CESC-US 8 400077 400077 single base substitution C G missense_variant Q90E 268C>G CLLE-ES 8 353619 353619 single base substitution G A upstream_gene_variant CLLE-ES 8 397277 397277 single base substitution A G intron_variant CLLE-ES 8 411636 411636 single base substitution G A intron_variant COAD-US 8 363192 363192 single base substitution G A 5_prime_UTR_variant COAD-US 8 363192 363192 single base substitution G A missense_variant R38H 113G>A COAD-US 8 381344 381344 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant COAD-US 8 381344 381344 single base substitution C G exon_variant COAD-US 8 381344 381344 single base substitution C G missense_variant I46M 138C>G COAD-US 8 381344 381344 single base substitution C G upstream_gene_variant COAD-US 8 408541 408541 single base substitution C A exon_variant COAD-US 8 408541 408541 single base substitution C A missense_variant A211D 632C>A COAD-US 8 408541 408541 single base substitution C A missense_variant A278D 833C>A COAD-US 8 418787 418787 single base substitution G A downstream_gene_variant COAD-US 8 418787 418787 single base substitution G A exon_variant COAD-US 8 418787 418787 single base substitution G A missense_variant D287N 859G>A COAD-US 8 418787 418787 single base substitution G A missense_variant D354N 1060G>A COAD-US 8 418787 418787 single base substitution G A missense_variant D363N 1087G>A COCA-CN 8 353398 353398 single base substitution C G upstream_gene_variant COCA-CN 8 353484 353484 single base substitution C G upstream_gene_variant COCA-CN 8 353936 353936 single base substitution T C upstream_gene_variant COCA-CN 8 356594 356594 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 8 356594 356594 single base substitution C T upstream_gene_variant COCA-CN 8 359237 359237 single base substitution A G intron_variant COCA-CN 8 359237 359237 single base substitution A G upstream_gene_variant COCA-CN 8 360471 360471 single base substitution T G intron_variant COCA-CN 8 360471 360471 single base substitution T G upstream_gene_variant COCA-CN 8 370046 370046 single base substitution T A intron_variant COCA-CN 8 370046 370046 single base substitution T A upstream_gene_variant COCA-CN 8 375372 375372 single base substitution A G intron_variant COCA-CN 8 376917 376917 single base substitution T C intron_variant COCA-CN 8 376922 376922 single base substitution G T intron_variant COCA-CN 8 376985 376985 single base substitution A G intron_variant COCA-CN 8 376989 376989 single base substitution T A intron_variant COCA-CN 8 376994 376994 single base substitution T C intron_variant COCA-CN 8 377015 377015 single base substitution T C intron_variant COCA-CN 8 377058 377058 single base substitution G A intron_variant COCA-CN 8 377156 377156 single base substitution G A intron_variant COCA-CN 8 377231 377231 single base substitution C G intron_variant COCA-CN 8 377273 377273 single base substitution G C intron_variant COCA-CN 8 377322 377322 single base substitution T C intron_variant COCA-CN 8 377350 377350 single base substitution G T intron_variant COCA-CN 8 377458 377458 single base substitution G A intron_variant COCA-CN 8 383314 383314 single base substitution C G intron_variant COCA-CN 8 383314 383314 single base substitution C G upstream_gene_variant COCA-CN 8 401319 401319 single base substitution C G exon_variant COCA-CN 8 401319 401319 single base substitution C G missense_variant L109V 325C>G COCA-CN 8 401319 401319 single base substitution C G missense_variant L176V 526C>G COCA-CN 8 401335 401335 single base substitution G A downstream_gene_variant COCA-CN 8 401335 401335 single base substitution G A exon_variant COCA-CN 8 401335 401335 single base substitution G A missense_variant C114Y 341G>A COCA-CN 8 401335 401335 single base substitution G A missense_variant C181Y 542G>A COCA-CN 8 401556 401556 single base substitution T G downstream_gene_variant COCA-CN 8 401556 401556 single base substitution T G intron_variant COCA-CN 8 404898 404898 single base substitution G A downstream_gene_variant COCA-CN 8 404898 404898 single base substitution G A intron_variant COCA-CN 8 404898 404898 single base substitution G A upstream_gene_variant COCA-CN 8 404904 404904 single base substitution G A downstream_gene_variant COCA-CN 8 404904 404904 single base substitution G A intron_variant COCA-CN 8 404904 404904 single base substitution G A upstream_gene_variant COCA-CN 8 408557 408557 single base substitution T C intron_variant COCA-CN 8 408557 408557 single base substitution T C splice_region_variant COCA-CN 8 413298 413298 single base substitution T C intron_variant COCA-CN 8 416362 416362 single base substitution G A intron_variant COCA-CN 8 416362 416362 single base substitution G A upstream_gene_variant COCA-CN 8 417566 417566 single base substitution A C intron_variant COCA-CN 8 417566 417566 single base substitution A C upstream_gene_variant COCA-CN 8 419368 419368 single base substitution G T 3_prime_UTR_variant COCA-CN 8 419368 419368 single base substitution G T downstream_gene_variant COCA-CN 8 419368 419368 single base substitution G T intron_variant COCA-CN 8 420474 420474 single base substitution C G downstream_gene_variant COCA-CN 8 420474 420474 single base substitution C G intron_variant COCA-CN 8 422550 422550 single base substitution T G downstream_gene_variant COCA-CN 8 424836 424836 single base substitution C A downstream_gene_variant COCA-CN 8 425090 425090 single base substitution T G downstream_gene_variant ESAD-UK 8 355682 355682 single base substitution A G upstream_gene_variant ESAD-UK 8 356999 356999 single base substitution G A 5_prime_UTR_variant ESAD-UK 8 356999 356999 single base substitution G A intron_variant ESAD-UK 8 361531 361531 single base substitution C G intron_variant ESAD-UK 8 361531 361531 single base substitution C G upstream_gene_variant ESAD-UK 8 362218 362218 single base substitution T C intron_variant ESAD-UK 8 362218 362218 single base substitution T C upstream_gene_variant ESAD-UK 8 362433 362433 single base substitution G T intron_variant ESAD-UK 8 362433 362433 single base substitution G T upstream_gene_variant ESAD-UK 8 363717 363717 single base substitution C T intron_variant ESAD-UK 8 364662 364662 single base substitution A C intron_variant ESAD-UK 8 368620 368620 single base substitution G A intron_variant ESAD-UK 8 368620 368620 single base substitution G A upstream_gene_variant ESAD-UK 8 368958 368958 single base substitution T C intron_variant ESAD-UK 8 368958 368958 single base substitution T C upstream_gene_variant ESAD-UK 8 371033 371033 single base substitution G A intron_variant ESAD-UK 8 373717 373717 single base substitution G A intron_variant ESAD-UK 8 375126 375126 single base substitution G A intron_variant ESAD-UK 8 375375 375375 single base substitution T G intron_variant ESAD-UK 8 384925 384925 insertion of <=200bp - T intron_variant ESAD-UK 8 384925 384925 insertion of <=200bp - T upstream_gene_variant ESAD-UK 8 387835 387835 single base substitution T G downstream_gene_variant ESAD-UK 8 387835 387835 single base substitution T G intron_variant ESAD-UK 8 393943 393943 single base substitution G T intron_variant ESAD-UK 8 394739 394739 insertion of <=200bp - T intron_variant ESAD-UK 8 399016 399016 single base substitution A T intron_variant ESAD-UK 8 400968 400968 single base substitution C T intron_variant ESAD-UK 8 401149 401149 single base substitution A G intron_variant ESAD-UK 8 401444 401444 single base substitution G C downstream_gene_variant ESAD-UK 8 401444 401444 single base substitution G C missense_variant Q150H 450G>C ESAD-UK 8 401444 401444 single base substitution G C missense_variant Q217H 651G>C ESAD-UK 8 402027 402027 insertion of <=200bp - A downstream_gene_variant ESAD-UK 8 402027 402027 insertion of <=200bp - A intron_variant ESAD-UK 8 402522 402522 single base substitution A T downstream_gene_variant ESAD-UK 8 402522 402522 single base substitution A T intron_variant ESAD-UK 8 403541 403541 single base substitution C T downstream_gene_variant ESAD-UK 8 403541 403541 single base substitution C T intron_variant ESAD-UK 8 403541 403541 single base substitution C T upstream_gene_variant ESAD-UK 8 403583 403583 single base substitution A G downstream_gene_variant ESAD-UK 8 403583 403583 single base substitution A G intron_variant ESAD-UK 8 403583 403583 single base substitution A G upstream_gene_variant ESAD-UK 8 410902 410902 single base substitution A T intron_variant ESAD-UK 8 412989 412989 single base substitution G A intron_variant ESAD-UK 8 413977 413977 deletion of <=200bp T - intron_variant ESAD-UK 8 413977 413977 deletion of <=200bp T - upstream_gene_variant ESAD-UK 8 416406 416406 single base substitution T G intron_variant ESAD-UK 8 416406 416406 single base substitution T G upstream_gene_variant ESAD-UK 8 418423 418423 single base substitution G T downstream_gene_variant ESAD-UK 8 418423 418423 single base substitution G T intron_variant ESAD-UK 8 418423 418423 single base substitution G T upstream_gene_variant ESAD-UK 8 418772 418772 single base substitution C T downstream_gene_variant ESAD-UK 8 418772 418772 single base substitution C T exon_variant ESAD-UK 8 418772 418772 single base substitution C T missense_variant P282S 844C>T ESAD-UK 8 418772 418772 single base substitution C T missense_variant P349S 1045C>T ESAD-UK 8 418772 418772 single base substitution C T missense_variant P358S 1072C>T ESAD-UK 8 419066 419066 single base substitution C A 3_prime_UTR_variant ESAD-UK 8 419066 419066 single base substitution C A downstream_gene_variant ESAD-UK 8 419066 419066 single base substitution C A intron_variant ESAD-UK 8 419067 419067 insertion of <=200bp - TA 3_prime_UTR_variant ESAD-UK 8 419067 419067 insertion of <=200bp - TA downstream_gene_variant ESAD-UK 8 419067 419067 insertion of <=200bp - TA intron_variant ESAD-UK 8 419770 419770 single base substitution A T 3_prime_UTR_variant ESAD-UK 8 419770 419770 single base substitution A T downstream_gene_variant ESAD-UK 8 419770 419770 single base substitution A T intron_variant ESAD-UK 8 420589 420589 single base substitution C G 3_prime_UTR_variant ESAD-UK 8 420589 420589 single base substitution C G downstream_gene_variant ESAD-UK 8 420907 420907 single base substitution T G 3_prime_UTR_variant ESAD-UK 8 420907 420907 single base substitution T G downstream_gene_variant ESAD-UK 8 421334 421334 single base substitution C T downstream_gene_variant ESAD-UK 8 424263 424263 single base substitution C T downstream_gene_variant ESCA-CN 8 377458 377458 single base substitution G A intron_variant LAML-KR 8 377154 377154 single base substitution G C intron_variant LAML-KR 8 377156 377156 single base substitution G A intron_variant LAML-KR 8 377225 377225 single base substitution A C intron_variant LAML-KR 8 377458 377458 single base substitution G A intron_variant LAML-KR 8 377556 377556 single base substitution A G intron_variant LAML-KR 8 390018 390018 single base substitution C G downstream_gene_variant LAML-KR 8 390018 390018 single base substitution C G intron_variant LAML-KR 8 390444 390444 single base substitution G A downstream_gene_variant LAML-KR 8 390444 390444 single base substitution G A intron_variant LAML-KR 8 413288 413288 single base substitution A G intron_variant LICA-FR 8 361474 361474 single base substitution A G intron_variant LICA-FR 8 361474 361474 single base substitution A G upstream_gene_variant LICA-FR 8 365301 365301 single base substitution T G intron_variant LICA-FR 8 370528 370528 single base substitution A G intron_variant LICA-FR 8 378611 378611 single base substitution C G intron_variant LICA-FR 8 394592 394592 single base substitution T C intron_variant LICA-FR 8 396345 396345 single base substitution T C intron_variant LICA-FR 8 397559 397559 single base substitution G C intron_variant LICA-FR 8 400024 400024 single base substitution C T exon_variant LICA-FR 8 400024 400024 single base substitution C T missense_variant S139L 416C>T LICA-FR 8 400024 400024 single base substitution C T missense_variant S72L 215C>T LINC-JP 8 362099 362099 single base substitution A G intron_variant LINC-JP 8 362099 362099 single base substitution A G upstream_gene_variant LINC-JP 8 365840 365840 single base substitution A G intron_variant LINC-JP 8 365840 365840 single base substitution A G upstream_gene_variant LINC-JP 8 392006 392006 single base substitution T G intron_variant LINC-JP 8 400236 400236 single base substitution C A intron_variant LINC-JP 8 400424 400424 single base substitution G A intron_variant LINC-JP 8 408652 408652 deletion of <=200bp A - intron_variant LINC-JP 8 422691 422691 single base substitution A G downstream_gene_variant LIRI-JP 8 357964 357964 single base substitution G A intron_variant LIRI-JP 8 360977 360977 single base substitution T A intron_variant LIRI-JP 8 360977 360977 single base substitution T A upstream_gene_variant LIRI-JP 8 365836 365836 single base substitution C G intron_variant LIRI-JP 8 365836 365836 single base substitution C G upstream_gene_variant LIRI-JP 8 366332 366332 single base substitution G A intron_variant LIRI-JP 8 366332 366332 single base substitution G A upstream_gene_variant LIRI-JP 8 367624 367624 single base substitution C A intron_variant LIRI-JP 8 367624 367624 single base substitution C A upstream_gene_variant LIRI-JP 8 368770 368770 single base substitution A C intron_variant LIRI-JP 8 368770 368770 single base substitution A C upstream_gene_variant LIRI-JP 8 376887 376887 single base substitution G T intron_variant LIRI-JP 8 377395 377395 single base substitution T C intron_variant LIRI-JP 8 379725 379725 single base substitution A T intron_variant LIRI-JP 8 384304 384304 single base substitution A T intron_variant LIRI-JP 8 384304 384304 single base substitution A T upstream_gene_variant LIRI-JP 8 386832 386832 single base substitution C A downstream_gene_variant LIRI-JP 8 386832 386832 single base substitution C A intron_variant LIRI-JP 8 387422 387422 single base substitution A G downstream_gene_variant LIRI-JP 8 387422 387422 single base substitution A G intron_variant LIRI-JP 8 387631 387631 single base substitution G A downstream_gene_variant LIRI-JP 8 387631 387631 single base substitution G A intron_variant LIRI-JP 8 393565 393565 single base substitution A G intron_variant LIRI-JP 8 401509 401509 single base substitution A C downstream_gene_variant LIRI-JP 8 401509 401509 single base substitution A C intron_variant LIRI-JP 8 403667 403667 single base substitution G A downstream_gene_variant LIRI-JP 8 403667 403667 single base substitution G A intron_variant LIRI-JP 8 403667 403667 single base substitution G A upstream_gene_variant LIRI-JP 8 407218 407218 deletion of <=200bp A - intron_variant LIRI-JP 8 407218 407218 deletion of <=200bp A - upstream_gene_variant LIRI-JP 8 408006 408006 single base substitution A C intron_variant LIRI-JP 8 408006 408006 single base substitution A C upstream_gene_variant LIRI-JP 8 408983 408983 single base substitution C A intron_variant LIRI-JP 8 412558 412558 single base substitution A C intron_variant LIRI-JP 8 413055 413055 single base substitution T G exon_variant LIRI-JP 8 413055 413055 single base substitution T G missense_variant L231V 691T>G LIRI-JP 8 413055 413055 single base substitution T G missense_variant L298V 892T>G LIRI-JP 8 414760 414760 single base substitution T G intron_variant LIRI-JP 8 414760 414760 single base substitution T G upstream_gene_variant LIRI-JP 8 416361 416361 single base substitution C T intron_variant LIRI-JP 8 416361 416361 single base substitution C T upstream_gene_variant LIRI-JP 8 417488 417525 deletion of <=200bp GACTGTCTTCAAGTAGTTTGGGAATTTTTGGGTTATCT - intron_variant LIRI-JP 8 417488 417525 deletion of <=200bp GACTGTCTTCAAGTAGTTTGGGAATTTTTGGGTTATCT - upstream_gene_variant LIRI-JP 8 417775 417775 single base substitution T C exon_variant LIRI-JP 8 417775 417775 single base substitution T C intron_variant LIRI-JP 8 417775 417775 single base substitution T C upstream_gene_variant LIRI-JP 8 418760 418760 single base substitution A G downstream_gene_variant LIRI-JP 8 418760 418760 single base substitution A G exon_variant LIRI-JP 8 418760 418760 single base substitution A G missense_variant T278A 832A>G LIRI-JP 8 418760 418760 single base substitution A G missense_variant T345A 1033A>G LIRI-JP 8 418760 418760 single base substitution A G missense_variant T354A 1060A>G LIRI-JP 8 422894 422894 single base substitution A G downstream_gene_variant LIRI-JP 8 423529 423529 single base substitution C T downstream_gene_variant LUSC-KR 8 352343 352343 single base substitution A G upstream_gene_variant LUSC-KR 8 352344 352344 single base substitution C T upstream_gene_variant LUSC-KR 8 352808 352808 single base substitution A C upstream_gene_variant LUSC-KR 8 352835 352835 single base substitution C T upstream_gene_variant LUSC-KR 8 352929 352929 single base substitution C G upstream_gene_variant LUSC-KR 8 356360 356360 single base substitution C A upstream_gene_variant LUSC-KR 8 357362 357362 single base substitution A G intron_variant LUSC-KR 8 357489 357489 single base substitution G A intron_variant LUSC-KR 8 358029 358029 single base substitution A G intron_variant LUSC-KR 8 366370 366370 single base substitution G T intron_variant LUSC-KR 8 366370 366370 single base substitution G T upstream_gene_variant LUSC-KR 8 373155 373155 single base substitution G T intron_variant LUSC-KR 8 373398 373398 single base substitution C T intron_variant LUSC-KR 8 376477 376477 single base substitution A G intron_variant LUSC-KR 8 376623 376623 single base substitution G C intron_variant LUSC-KR 8 377015 377015 single base substitution T C intron_variant LUSC-KR 8 377154 377154 single base substitution G C intron_variant LUSC-KR 8 377350 377350 single base substitution G T intron_variant LUSC-KR 8 384120 384120 single base substitution G A intron_variant LUSC-KR 8 384120 384120 single base substitution G A upstream_gene_variant LUSC-KR 8 390018 390018 single base substitution C G downstream_gene_variant LUSC-KR 8 390018 390018 single base substitution C G intron_variant LUSC-KR 8 390255 390255 single base substitution G T downstream_gene_variant LUSC-KR 8 390255 390255 single base substitution G T intron_variant LUSC-KR 8 390444 390444 single base substitution G A downstream_gene_variant LUSC-KR 8 390444 390444 single base substitution G A intron_variant LUSC-KR 8 390468 390468 single base substitution A T downstream_gene_variant LUSC-KR 8 390468 390468 single base substitution A T intron_variant LUSC-KR 8 398573 398573 single base substitution C G intron_variant LUSC-KR 8 402139 402139 single base substitution C G downstream_gene_variant LUSC-KR 8 402139 402139 single base substitution C G intron_variant LUSC-KR 8 411273 411273 single base substitution G A intron_variant LUSC-KR 8 417633 417633 single base substitution C T intron_variant LUSC-KR 8 417633 417633 single base substitution C T upstream_gene_variant LUSC-KR 8 419784 419784 single base substitution C T 3_prime_UTR_variant LUSC-KR 8 419784 419784 single base substitution C T downstream_gene_variant LUSC-KR 8 419784 419784 single base substitution C T intron_variant LUSC-KR 8 420404 420404 single base substitution G C downstream_gene_variant LUSC-KR 8 420404 420404 single base substitution G C intron_variant LUSC-US 8 401300 401300 single base substitution C G exon_variant LUSC-US 8 401300 401300 single base substitution C G missense_variant I102M 306C>G LUSC-US 8 401300 401300 single base substitution C G missense_variant I169M 507C>G MALY-DE 8 360797 360797 single base substitution A G intron_variant MALY-DE 8 360797 360797 single base substitution A G upstream_gene_variant MALY-DE 8 363176 363176 single base substitution G C 5_prime_UTR_variant MALY-DE 8 363176 363176 single base substitution G C missense_variant E33Q 97G>C MALY-DE 8 366144 366144 single base substitution T A intron_variant MALY-DE 8 366144 366144 single base substitution T A upstream_gene_variant MALY-DE 8 368238 368238 single base substitution T A intron_variant MALY-DE 8 368238 368238 single base substitution T A upstream_gene_variant MALY-DE 8 368272 368272 single base substitution T A intron_variant MALY-DE 8 368272 368272 single base substitution T A upstream_gene_variant MALY-DE 8 400333 400333 single base substitution A G intron_variant MALY-DE 8 415346 415346 single base substitution C T intron_variant MALY-DE 8 415346 415346 single base substitution C T upstream_gene_variant MALY-DE 8 419066 419066 single base substitution C A 3_prime_UTR_variant MALY-DE 8 419066 419066 single base substitution C A downstream_gene_variant MALY-DE 8 419066 419066 single base substitution C A intron_variant MALY-DE 8 424084 424084 single base substitution G A downstream_gene_variant MELA-AU 8 351867 351867 single base substitution T C upstream_gene_variant MELA-AU 8 352295 352295 single base substitution G A upstream_gene_variant MELA-AU 8 352301 352301 single base substitution G A upstream_gene_variant MELA-AU 8 353416 353416 single base substitution A G upstream_gene_variant MELA-AU 8 354164 354164 single base substitution C T upstream_gene_variant MELA-AU 8 354971 354971 single base substitution C T upstream_gene_variant MELA-AU 8 355307 355307 single base substitution T C upstream_gene_variant MELA-AU 8 356807 356807 single base substitution G A intron_variant MELA-AU 8 356807 356807 single base substitution G A upstream_gene_variant MELA-AU 8 356909 356909 single base substitution G A 5_prime_UTR_variant MELA-AU 8 356909 356909 single base substitution G A intron_variant MELA-AU 8 356909 356909 single base substitution G A upstream_gene_variant MELA-AU 8 356920 356920 single base substitution C T 5_prime_UTR_variant MELA-AU 8 356920 356920 single base substitution C T intron_variant MELA-AU 8 356920 356920 single base substitution C T upstream_gene_variant MELA-AU 8 358709 358709 single base substitution C T intron_variant MELA-AU 8 358709 358709 single base substitution C T upstream_gene_variant MELA-AU 8 358954 358954 single base substitution C T intron_variant MELA-AU 8 358954 358954 single base substitution C T upstream_gene_variant MELA-AU 8 359882 359882 single base substitution A G intron_variant MELA-AU 8 359882 359882 single base substitution A G upstream_gene_variant MELA-AU 8 361400 361400 single base substitution C T intron_variant MELA-AU 8 361400 361400 single base substitution C T upstream_gene_variant MELA-AU 8 362263 362263 single base substitution C T intron_variant MELA-AU 8 362263 362263 single base substitution C T upstream_gene_variant MELA-AU 8 362588 362588 single base substitution A G intron_variant MELA-AU 8 362588 362588 single base substitution A G upstream_gene_variant MELA-AU 8 362848 362848 single base substitution T G intron_variant MELA-AU 8 362848 362848 single base substitution T G upstream_gene_variant MELA-AU 8 363190 363190 single base substitution C T 5_prime_UTR_variant MELA-AU 8 363190 363190 single base substitution C T synonymous_variant N37N 111C>T MELA-AU 8 363284 363284 single base substitution C T intron_variant MELA-AU 8 364090 364090 single base substitution T C intron_variant MELA-AU 8 364654 364654 single base substitution C T intron_variant MELA-AU 8 365967 365967 single base substitution C T intron_variant MELA-AU 8 365967 365967 single base substitution C T upstream_gene_variant MELA-AU 8 367665 367665 single base substitution C T intron_variant MELA-AU 8 367665 367665 single base substitution C T upstream_gene_variant MELA-AU 8 367717 367717 single base substitution C T intron_variant MELA-AU 8 367717 367717 single base substitution C T upstream_gene_variant MELA-AU 8 368079 368079 single base substitution C T intron_variant MELA-AU 8 368079 368079 single base substitution C T upstream_gene_variant MELA-AU 8 368688 368688 single base substitution C T intron_variant MELA-AU 8 368688 368688 single base substitution C T upstream_gene_variant MELA-AU 8 369012 369012 single base substitution G A intron_variant MELA-AU 8 369012 369012 single base substitution G A upstream_gene_variant MELA-AU 8 369511 369511 single base substitution C T intron_variant MELA-AU 8 369511 369511 single base substitution C T upstream_gene_variant MELA-AU 8 371230 371230 single base substitution C T intron_variant MELA-AU 8 371259 371259 single base substitution C T intron_variant MELA-AU 8 371660 371660 single base substitution C T intron_variant MELA-AU 8 373180 373180 single base substitution C T intron_variant MELA-AU 8 375216 375216 single base substitution C T intron_variant MELA-AU 8 377162 377162 single base substitution A G intron_variant MELA-AU 8 377225 377225 single base substitution A C intron_variant MELA-AU 8 377270 377270 single base substitution A G intron_variant MELA-AU 8 377298 377299 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 378174 378174 single base substitution G A intron_variant MELA-AU 8 379754 379754 single base substitution C T intron_variant MELA-AU 8 380185 380185 single base substitution C T intron_variant MELA-AU 8 380603 380603 single base substitution C T intron_variant MELA-AU 8 380603 380603 single base substitution C T upstream_gene_variant MELA-AU 8 382840 382840 single base substitution G T intron_variant MELA-AU 8 382840 382840 single base substitution G T upstream_gene_variant MELA-AU 8 385103 385103 single base substitution G A intron_variant MELA-AU 8 385103 385103 single base substitution G A upstream_gene_variant MELA-AU 8 388290 388290 single base substitution C T downstream_gene_variant MELA-AU 8 388290 388290 single base substitution C T intron_variant MELA-AU 8 388514 388514 single base substitution A G downstream_gene_variant MELA-AU 8 388514 388514 single base substitution A G intron_variant MELA-AU 8 388773 388773 single base substitution C T downstream_gene_variant MELA-AU 8 388773 388773 single base substitution C T intron_variant MELA-AU 8 388853 388853 single base substitution C T downstream_gene_variant MELA-AU 8 388853 388853 single base substitution C T intron_variant MELA-AU 8 389823 389823 single base substitution T C downstream_gene_variant MELA-AU 8 389823 389823 single base substitution T C intron_variant MELA-AU 8 390230 390230 single base substitution T C downstream_gene_variant MELA-AU 8 390230 390230 single base substitution T C intron_variant MELA-AU 8 390251 390251 single base substitution G C downstream_gene_variant MELA-AU 8 390251 390251 single base substitution G C intron_variant MELA-AU 8 390748 390748 single base substitution C T intron_variant MELA-AU 8 391879 391879 single base substitution G A intron_variant MELA-AU 8 391958 391959 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 392415 392415 single base substitution C T intron_variant MELA-AU 8 392461 392461 single base substitution C T intron_variant MELA-AU 8 393547 393547 single base substitution G A intron_variant MELA-AU 8 395083 395083 single base substitution C T intron_variant MELA-AU 8 395094 395094 single base substitution C T intron_variant MELA-AU 8 395237 395237 single base substitution C T intron_variant MELA-AU 8 395480 395480 single base substitution G A intron_variant MELA-AU 8 395547 395547 single base substitution C T intron_variant MELA-AU 8 398546 398546 single base substitution G A intron_variant MELA-AU 8 398932 398932 single base substitution T C intron_variant MELA-AU 8 399021 399021 single base substitution C T intron_variant MELA-AU 8 399805 399805 single base substitution G A intron_variant MELA-AU 8 401292 401292 single base substitution C G exon_variant MELA-AU 8 401292 401292 single base substitution C G missense_variant R100G 298C>G MELA-AU 8 401292 401292 single base substitution C G missense_variant R167G 499C>G MELA-AU 8 401691 401691 single base substitution A T downstream_gene_variant MELA-AU 8 401691 401691 single base substitution A T intron_variant MELA-AU 8 402269 402269 single base substitution C T downstream_gene_variant MELA-AU 8 402269 402269 single base substitution C T intron_variant MELA-AU 8 402758 402759 multiple base substitution (>=2bp and <=200bp) GT AG downstream_gene_variant MELA-AU 8 402758 402759 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 8 403397 403397 single base substitution C T downstream_gene_variant MELA-AU 8 403397 403397 single base substitution C T intron_variant MELA-AU 8 403397 403397 single base substitution C T upstream_gene_variant MELA-AU 8 403564 403564 single base substitution C T downstream_gene_variant MELA-AU 8 403564 403564 single base substitution C T intron_variant MELA-AU 8 403564 403564 single base substitution C T upstream_gene_variant MELA-AU 8 406887 406887 single base substitution G A intron_variant MELA-AU 8 406887 406887 single base substitution G A upstream_gene_variant MELA-AU 8 407919 407919 single base substitution T C intron_variant MELA-AU 8 407919 407919 single base substitution T C upstream_gene_variant MELA-AU 8 408203 408203 single base substitution C T intron_variant MELA-AU 8 408203 408203 single base substitution C T upstream_gene_variant MELA-AU 8 408431 408431 single base substitution C T exon_variant MELA-AU 8 408431 408431 single base substitution C T synonymous_variant Y174Y 522C>T MELA-AU 8 408431 408431 single base substitution C T synonymous_variant Y241Y 723C>T MELA-AU 8 408431 408431 single base substitution C T upstream_gene_variant MELA-AU 8 409120 409120 single base substitution C T intron_variant MELA-AU 8 409151 409151 single base substitution C T intron_variant MELA-AU 8 409839 409839 single base substitution G C intron_variant MELA-AU 8 410103 410103 single base substitution G A intron_variant MELA-AU 8 410469 410469 single base substitution T C intron_variant MELA-AU 8 411745 411745 single base substitution G A intron_variant MELA-AU 8 412610 412610 single base substitution C T intron_variant MELA-AU 8 413659 413659 single base substitution T A intron_variant MELA-AU 8 414557 414557 single base substitution C T intron_variant MELA-AU 8 414557 414557 single base substitution C T upstream_gene_variant MELA-AU 8 415032 415032 single base substitution T A intron_variant MELA-AU 8 415032 415032 single base substitution T A upstream_gene_variant MELA-AU 8 416161 416161 single base substitution G A intron_variant MELA-AU 8 416161 416161 single base substitution G A upstream_gene_variant MELA-AU 8 417172 417172 single base substitution G C intron_variant MELA-AU 8 417172 417172 single base substitution G C upstream_gene_variant MELA-AU 8 418066 418066 single base substitution C T downstream_gene_variant MELA-AU 8 418066 418066 single base substitution C T exon_variant MELA-AU 8 418066 418066 single base substitution C T intron_variant MELA-AU 8 418066 418066 single base substitution C T upstream_gene_variant MELA-AU 8 418591 418592 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 418591 418592 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 418591 418592 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 419317 419317 single base substitution C T 3_prime_UTR_variant MELA-AU 8 419317 419317 single base substitution C T downstream_gene_variant MELA-AU 8 419317 419317 single base substitution C T intron_variant MELA-AU 8 419420 419420 single base substitution C T 3_prime_UTR_variant MELA-AU 8 419420 419420 single base substitution C T downstream_gene_variant MELA-AU 8 419420 419420 single base substitution C T intron_variant MELA-AU 8 419648 419648 single base substitution C T 3_prime_UTR_variant MELA-AU 8 419648 419648 single base substitution C T downstream_gene_variant MELA-AU 8 419648 419648 single base substitution C T intron_variant MELA-AU 8 420068 420068 single base substitution C T downstream_gene_variant MELA-AU 8 420068 420068 single base substitution C T intron_variant MELA-AU 8 420638 420639 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 420638 420639 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 421165 421166 multiple base substitution (>=2bp and <=200bp) AC TT 3_prime_UTR_variant MELA-AU 8 421165 421166 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 8 423341 423341 single base substitution G C downstream_gene_variant MELA-AU 8 423418 423418 single base substitution C T downstream_gene_variant MELA-AU 8 424935 424935 single base substitution C T downstream_gene_variant MELA-AU 8 425521 425521 single base substitution T C downstream_gene_variant MELA-AU 8 425658 425658 single base substitution C A downstream_gene_variant ORCA-IN 8 392680 392680 single base substitution G A intron_variant ORCA-IN 8 408810 408810 single base substitution C A intron_variant OV-AU 8 354289 354289 single base substitution C A upstream_gene_variant OV-AU 8 366843 366843 single base substitution T C intron_variant OV-AU 8 366843 366843 single base substitution T C upstream_gene_variant OV-AU 8 375126 375126 single base substitution G A intron_variant OV-AU 8 399787 399787 single base substitution G A intron_variant PACA-AU 8 365239 365239 insertion of <=200bp - T intron_variant PACA-AU 8 368193 368193 single base substitution G A intron_variant PACA-AU 8 368193 368193 single base substitution G A upstream_gene_variant PACA-AU 8 377326 377326 single base substitution G A intron_variant PACA-AU 8 386642 386642 single base substitution C T downstream_gene_variant PACA-AU 8 386642 386642 single base substitution C T intron_variant PACA-AU 8 387002 387002 insertion of <=200bp - G downstream_gene_variant PACA-AU 8 387002 387002 insertion of <=200bp - G intron_variant PACA-AU 8 389237 389237 deletion of <=200bp C - downstream_gene_variant PACA-AU 8 389237 389237 deletion of <=200bp C - intron_variant PACA-AU 8 399136 399136 single base substitution C T intron_variant PACA-AU 8 404539 404539 single base substitution A G downstream_gene_variant PACA-AU 8 404539 404539 single base substitution A G intron_variant PACA-AU 8 404539 404539 single base substitution A G upstream_gene_variant PACA-AU 8 405649 405649 single base substitution G T downstream_gene_variant PACA-AU 8 405649 405649 single base substitution G T intron_variant PACA-AU 8 405649 405649 single base substitution G T upstream_gene_variant PACA-AU 8 409762 409762 single base substitution G A intron_variant PACA-AU 8 415264 415264 single base substitution G A intron_variant PACA-AU 8 415264 415264 single base substitution G A upstream_gene_variant PACA-AU 8 416120 416120 single base substitution C T intron_variant PACA-AU 8 416120 416120 single base substitution C T upstream_gene_variant PACA-AU 8 416955 416955 single base substitution A G intron_variant PACA-AU 8 416955 416955 single base substitution A G upstream_gene_variant PACA-AU 8 417342 417342 deletion of <=200bp A - intron_variant PACA-AU 8 417342 417342 deletion of <=200bp A - upstream_gene_variant PACA-AU 8 419066 419066 single base substitution C A 3_prime_UTR_variant PACA-AU 8 419066 419066 single base substitution C A downstream_gene_variant PACA-AU 8 419066 419066 single base substitution C A intron_variant PACA-AU 8 423919 423919 single base substitution T G downstream_gene_variant PACA-AU 8 426128 426128 deletion of <=200bp T - downstream_gene_variant PACA-CA 8 354526 354526 single base substitution A T upstream_gene_variant PACA-CA 8 357937 357937 single base substitution C T intron_variant PACA-CA 8 359657 359657 single base substitution A T intron_variant PACA-CA 8 359657 359657 single base substitution A T upstream_gene_variant PACA-CA 8 363038 363038 single base substitution T C intron_variant PACA-CA 8 363038 363038 single base substitution T C upstream_gene_variant PACA-CA 8 364074 364074 single base substitution G A intron_variant PACA-CA 8 367228 367228 single base substitution G A intron_variant PACA-CA 8 367228 367228 single base substitution G A upstream_gene_variant PACA-CA 8 375502 375502 single base substitution C G intron_variant PACA-CA 8 376942 376942 insertion of <=200bp - T intron_variant PACA-CA 8 377699 377699 single base substitution A T intron_variant PACA-CA 8 381299 381299 single base substitution C T intron_variant PACA-CA 8 381299 381299 single base substitution C T upstream_gene_variant PACA-CA 8 382700 382700 single base substitution G T intron_variant PACA-CA 8 382700 382700 single base substitution G T upstream_gene_variant PACA-CA 8 384685 384685 single base substitution T G intron_variant PACA-CA 8 384685 384685 single base substitution T G upstream_gene_variant PACA-CA 8 385702 385702 single base substitution G A downstream_gene_variant PACA-CA 8 385702 385702 single base substitution G A exon_variant PACA-CA 8 385702 385702 single base substitution G A missense_variant V126I 376G>A PACA-CA 8 385702 385702 single base substitution G A missense_variant V59I 175G>A PACA-CA 8 388135 388135 single base substitution A C downstream_gene_variant PACA-CA 8 388135 388135 single base substitution A C intron_variant PACA-CA 8 388582 388602 deletion of <=200bp CCTGTTGGAGGCATAAAATGG - downstream_gene_variant PACA-CA 8 388582 388602 deletion of <=200bp CCTGTTGGAGGCATAAAATGG - intron_variant PACA-CA 8 389898 389898 deletion of <=200bp T - downstream_gene_variant PACA-CA 8 389898 389898 deletion of <=200bp T - intron_variant PACA-CA 8 389965 389967 deletion of <=200bp TTT - downstream_gene_variant PACA-CA 8 389965 389967 deletion of <=200bp TTT - intron_variant PACA-CA 8 391335 391335 single base substitution C T intron_variant PACA-CA 8 394366 394366 single base substitution C T intron_variant PACA-CA 8 395124 395124 single base substitution C G intron_variant PACA-CA 8 399960 399960 single base substitution C T intron_variant PACA-CA 8 400280 400280 single base substitution G A intron_variant PACA-CA 8 404454 404454 single base substitution G A downstream_gene_variant PACA-CA 8 404454 404454 single base substitution G A intron_variant PACA-CA 8 404454 404454 single base substitution G A upstream_gene_variant PACA-CA 8 407422 407422 single base substitution G A intron_variant PACA-CA 8 407422 407422 single base substitution G A upstream_gene_variant PACA-CA 8 408237 408237 single base substitution C T intron_variant PACA-CA 8 408237 408237 single base substitution C T upstream_gene_variant PACA-CA 8 409310 409310 single base substitution G A intron_variant PACA-CA 8 409646 409646 single base substitution G T intron_variant PACA-CA 8 412618 412618 single base substitution C T intron_variant PACA-CA 8 416173 416173 single base substitution C G intron_variant PACA-CA 8 416173 416173 single base substitution C G upstream_gene_variant PACA-CA 8 417342 417342 single base substitution A C intron_variant PACA-CA 8 417342 417342 single base substitution A C upstream_gene_variant PACA-CA 8 417597 417597 single base substitution C T intron_variant PACA-CA 8 417597 417597 single base substitution C T upstream_gene_variant PACA-CA 8 422923 422923 single base substitution C T downstream_gene_variant PAEN-AU 8 368439 368439 single base substitution A C intron_variant PAEN-AU 8 368439 368439 single base substitution A C upstream_gene_variant PAEN-AU 8 375372 375372 single base substitution A G intron_variant PAEN-AU 8 379127 379127 single base substitution A G intron_variant PAEN-IT 8 386347 386347 single base substitution T C downstream_gene_variant PAEN-IT 8 386347 386347 single base substitution T C intron_variant PBCA-DE 8 363000 363000 insertion of <=200bp - AATG intron_variant PBCA-DE 8 363000 363000 insertion of <=200bp - AATG upstream_gene_variant PBCA-DE 8 376943 376943 insertion of <=200bp - TT intron_variant PBCA-DE 8 396929 396929 deletion of <=200bp A - intron_variant PBCA-DE 8 399080 399085 deletion of <=200bp GTAAAA - intron_variant PBCA-DE 8 404671 404671 single base substitution C T downstream_gene_variant PBCA-DE 8 404671 404671 single base substitution C T intron_variant PBCA-DE 8 404671 404671 single base substitution C T upstream_gene_variant PBCA-DE 8 425456 425456 deletion of <=200bp A - downstream_gene_variant PBCA-DE 8 425778 425778 insertion of <=200bp - T downstream_gene_variant PRAD-CA 8 351433 351433 single base substitution T G upstream_gene_variant PRAD-CA 8 378319 378319 single base substitution A T intron_variant PRAD-UK 8 352367 352367 single base substitution G A upstream_gene_variant PRAD-UK 8 353791 353791 single base substitution G T upstream_gene_variant PRAD-UK 8 355514 355514 single base substitution T G upstream_gene_variant PRAD-UK 8 379112 379112 single base substitution T G intron_variant PRAD-UK 8 389392 389392 single base substitution C G downstream_gene_variant PRAD-UK 8 389392 389392 single base substitution C G intron_variant PRAD-UK 8 399080 399085 deletion of <=200bp GTAAAA - intron_variant PRAD-UK 8 403949 403949 single base substitution C T downstream_gene_variant PRAD-UK 8 403949 403949 single base substitution C T intron_variant PRAD-UK 8 403949 403949 single base substitution C T upstream_gene_variant PRAD-UK 8 404915 404915 single base substitution C G downstream_gene_variant PRAD-UK 8 404915 404915 single base substitution C G intron_variant PRAD-UK 8 404915 404915 single base substitution C G upstream_gene_variant PRAD-UK 8 425093 425093 single base substitution T G downstream_gene_variant RECA-EU 8 355080 355080 single base substitution A T upstream_gene_variant RECA-EU 8 414893 414893 single base substitution T G intron_variant RECA-EU 8 414893 414893 single base substitution T G upstream_gene_variant RECA-EU 8 425133 425133 single base substitution A G downstream_gene_variant SKCA-BR 8 352817 352817 single base substitution C T upstream_gene_variant SKCA-BR 8 352921 352921 single base substitution T C upstream_gene_variant SKCA-BR 8 352923 352923 single base substitution C A upstream_gene_variant SKCA-BR 8 353232 353232 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 8 353932 353932 single base substitution A G upstream_gene_variant SKCA-BR 8 354767 354767 single base substitution C T upstream_gene_variant SKCA-BR 8 355563 355565 deletion of <=200bp TTC - upstream_gene_variant SKCA-BR 8 356257 356257 single base substitution A C upstream_gene_variant SKCA-BR 8 357449 357449 single base substitution T G intron_variant SKCA-BR 8 361424 361424 insertion of <=200bp - GT intron_variant SKCA-BR 8 361424 361424 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 8 363559 363559 single base substitution G A intron_variant SKCA-BR 8 366443 366443 single base substitution C T intron_variant SKCA-BR 8 366443 366443 single base substitution C T upstream_gene_variant SKCA-BR 8 368297 368297 single base substitution C T intron_variant SKCA-BR 8 368297 368297 single base substitution C T upstream_gene_variant SKCA-BR 8 368308 368308 single base substitution C T intron_variant SKCA-BR 8 368308 368308 single base substitution C T upstream_gene_variant SKCA-BR 8 376477 376477 single base substitution A G intron_variant SKCA-BR 8 376775 376775 single base substitution C T intron_variant SKCA-BR 8 377270 377270 single base substitution A G intron_variant SKCA-BR 8 377397 377397 single base substitution G A intron_variant SKCA-BR 8 377458 377458 single base substitution G A intron_variant SKCA-BR 8 377649 377649 single base substitution C T intron_variant SKCA-BR 8 378409 378409 single base substitution A G intron_variant SKCA-BR 8 378661 378661 single base substitution C T intron_variant SKCA-BR 8 381266 381266 single base substitution T C intron_variant SKCA-BR 8 381266 381266 single base substitution T C upstream_gene_variant SKCA-BR 8 381660 381660 single base substitution C T intron_variant SKCA-BR 8 381660 381660 single base substitution C T upstream_gene_variant SKCA-BR 8 382921 382921 single base substitution G A intron_variant SKCA-BR 8 382921 382921 single base substitution G A missense_variant E92K 274G>A SKCA-BR 8 382921 382921 single base substitution G A upstream_gene_variant SKCA-BR 8 383601 383601 single base substitution G C intron_variant SKCA-BR 8 383601 383601 single base substitution G C upstream_gene_variant SKCA-BR 8 384174 384174 single base substitution C T intron_variant SKCA-BR 8 384174 384174 single base substitution C T upstream_gene_variant SKCA-BR 8 393315 393315 single base substitution A G intron_variant SKCA-BR 8 394201 394201 single base substitution C G intron_variant SKCA-BR 8 395739 395739 single base substitution C A intron_variant SKCA-BR 8 396164 396164 single base substitution A T intron_variant SKCA-BR 8 412815 412815 single base substitution T C intron_variant SKCA-BR 8 418069 418069 single base substitution A T downstream_gene_variant SKCA-BR 8 418069 418069 single base substitution A T exon_variant SKCA-BR 8 418069 418069 single base substitution A T intron_variant SKCA-BR 8 418069 418069 single base substitution A T upstream_gene_variant SKCA-BR 8 418675 418675 single base substitution T G downstream_gene_variant SKCA-BR 8 418675 418675 single base substitution T G intron_variant SKCA-BR 8 418675 418675 single base substitution T G upstream_gene_variant SKCA-BR 8 418688 418688 single base substitution T C downstream_gene_variant SKCA-BR 8 418688 418688 single base substitution T C intron_variant SKCA-BR 8 418688 418688 single base substitution T C upstream_gene_variant SKCA-BR 8 418740 418740 single base substitution C T downstream_gene_variant SKCA-BR 8 418740 418740 single base substitution C T exon_variant SKCA-BR 8 418740 418740 single base substitution C T missense_variant A271V 812C>T SKCA-BR 8 418740 418740 single base substitution C T missense_variant A338V 1013C>T SKCA-BR 8 418740 418740 single base substitution C T missense_variant A347V 1040C>T SKCA-BR 8 418741 418741 single base substitution C T downstream_gene_variant SKCA-BR 8 418741 418741 single base substitution C T exon_variant SKCA-BR 8 418741 418741 single base substitution C T synonymous_variant A271A 813C>T SKCA-BR 8 418741 418741 single base substitution C T synonymous_variant A338A 1014C>T SKCA-BR 8 418741 418741 single base substitution C T synonymous_variant A347A 1041C>T SKCA-BR 8 422316 422316 single base substitution A G downstream_gene_variant SKCA-BR 8 422507 422507 single base substitution A C downstream_gene_variant SKCM-US 8 385683 385683 single base substitution C T exon_variant SKCM-US 8 385683 385683 single base substitution C T synonymous_variant I119I 357C>T SKCM-US 8 385683 385683 single base substitution C T synonymous_variant I52I 156C>T SKCM-US 8 400073 400073 single base substitution C T exon_variant SKCM-US 8 400073 400073 single base substitution C T synonymous_variant I155I 465C>T SKCM-US 8 400073 400073 single base substitution C T synonymous_variant I88I 264C>T STAD-US 8 381399 381399 deletion of <=200bp A - exon_variant STAD-US 8 381399 381399 deletion of <=200bp A - frameshift_variant K65 STAD-US 8 381399 381399 deletion of <=200bp A - frameshift_variant R14 STAD-US 8 381399 381399 deletion of <=200bp A - upstream_gene_variant STAD-US 8 400034 400034 single base substitution C T exon_variant STAD-US 8 400034 400034 single base substitution C T synonymous_variant G142G 426C>T STAD-US 8 400034 400034 single base substitution C T synonymous_variant G75G 225C>T STAD-US 8 401417 401417 single base substitution C T downstream_gene_variant STAD-US 8 401417 401417 single base substitution C T synonymous_variant A141A 423C>T STAD-US 8 401417 401417 single base substitution C T synonymous_variant A208A 624C>T STAD-US 8 413102 413102 single base substitution C T exon_variant STAD-US 8 413102 413102 single base substitution C T synonymous_variant Y246Y 738C>T STAD-US 8 413102 413102 single base substitution C T synonymous_variant Y313Y 939C>T STAD-US 8 418731 418731 single base substitution G A downstream_gene_variant STAD-US 8 418731 418731 single base substitution G A exon_variant STAD-US 8 418731 418731 single base substitution G A missense_variant C268Y 803G>A STAD-US 8 418731 418731 single base substitution G A missense_variant C335Y 1004G>A STAD-US 8 418731 418731 single base substitution G A missense_variant C344Y 1031G>A UCEC-US 8 385641 385641 single base substitution A G exon_variant UCEC-US 8 385641 385641 single base substitution A G synonymous_variant E105E 315A>G UCEC-US 8 385641 385641 single base substitution A G synonymous_variant E38E 114A>G UCEC-US 8 401290 401290 single base substitution C A exon_variant UCEC-US 8 401290 401290 single base substitution C A missense_variant P166H 497C>A UCEC-US 8 401290 401290 single base substitution C A missense_variant P99H 296C>A UCEC-US 8 401397 401397 single base substitution C T downstream_gene_variant UCEC-US 8 401397 401397 single base substitution C T stop_gained R135* 403C>T UCEC-US 8 401397 401397 single base substitution C T stop_gained R202* 604C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AO-A12E-01 COSM3834691 c.357C>A p.I119I Substitution - coding silent 8:435683-435683 + 587228 COSM1206820 c.427G>A p.V143M Substitution - Missense 8:450035-450035 + 2293776 COSM4608018 c.1072C>A p.P358T Substitution - Missense 8:468772-468772 + 855_PT COSM5757212 c.192G>C p.S64S Substitution - coding silent 8:431398-431398 + TCGA-CG-4306-01 COSM3900254 c.1031G>A p.C344Y Substitution - Missense 8:468731-468731 + S26_post COSM5574629 c.106A>G p.N36D Substitution - Missense 8:413185-413185 + LP6007416-DNA_A01 COSM5036751 c.651G>C p.Q217H Substitution - Missense 8:451444-451444 + I2L-P7-Tumor-Organoid COSM5358989 c.466G>A p.V156I Substitution - Missense 8:450074-450074 + T3262 COSM1456824 c.193delA p.R67fs*44 Deletion - Frameshift 8:431399-431399 + TCGA-A6-6140-01 COSM3763328 c.113G>A p.R38H Substitution - Missense 8:413192-413192 + T407 COSM4683948 c.735C>T p.D245D Substitution - coding silent 8:458443-458443 + TCGA-D3-A2JF-06 COSM3648934 c.357C>T p.I119I Substitution - coding silent 8:435683-435683 + 2292380 COSM4609980 c.784C>T p.L262F Substitution - Missense 8:458492-458492 + RK138_C01 COSM1635795 c.892T>G p.L298V Substitution - Missense 8:463055-463055 + DN15001 COSM4683948 c.735C>T p.D245D Substitution - coding silent 8:458443-458443 + TCGA-D3-A3C8-06 COSM2961140 c.465C>T p.I155I Substitution - coding silent 8:450073-450073 + 587376 COSM1206821 c.438G>T p.K146N Substitution - Missense 8:450046-450046 + LS180 COSM2961137 c.399delA p.K134fs*4 Deletion - Frameshift 8:450007-450007 + LS174T COSM2961137 c.399delA p.K134fs*4 Deletion - Frameshift 8:450007-450007 + LP2000108-DNA_A01 COSM4408124 c.1072C>T p.P358S Substitution - Missense 8:468772-468772 + Capan-1 COSM327995 c.121_122delAT p.I41fs*8 Deletion - Frameshift 8:413200-413201 + TCGA-BS-A0UJ-01 COSM1099665 c.315A>G p.E105E Substitution - coding silent 8:435641-435641 + TCGA-AG-A002-01 COSM260900 c.239-1G>T p.? Unknown 8:432885-432885 + 255 COSM3731751 c.15T>C p.G5G Substitution - coding silent 8:413094-413094 + RK100_C01 COSM1635800 c.1060A>G p.T354A Substitution - Missense 8:468760-468760 + TCGA-DK-A1A6-01 COSM1314037 c.338C>G p.S113* Substitution - Nonsense 8:435664-435664 + TCGA-A6-6780-01 COSM1457041 c.833C>A p.A278D Substitution - Missense 8:458541-458541 + TCGA-A3-3367-01 COSM486466 c.603C>T p.C201C Substitution - coding silent 8:451396-451396 + CSCC-15-T COSM4553656 c.597G>A p.W199* Substitution - Nonsense 8:451390-451390 + TCGA-13-0906-01 COSM115954 c.1040C>A p.A347D Substitution - Missense 8:468740-468740 + TCGA-JX-A3Q0-01 COSM4823885 c.62G>T p.G21V Substitution - Missense 8:413141-413141 + TCGA-HU-A4G9-01 COSM3900151 c.939C>T p.Y313Y Substitution - coding silent 8:463102-463102 + TCGA-C5-A1M8-01 COSM4837309 c.247C>T p.R83C Substitution - Missense 8:432894-432894 + T55 COSM4683947 c.470delA p.K158fs*11 Deletion - Frameshift 8:450078-450078 + PCSI_0326_Pa_P_526 COSM4965304 c.376G>A p.V126I Substitution - Missense 8:435702-435702 + TCGA-AM-5820-01 COSM3763335 c.138C>G p.I46M Substitution - Missense 8:431344-431344 + CSCC-10-T COSM4499081 c.533C>T p.S178F Substitution - Missense 8:451326-451326 + TCGA-AG-A02N-01 COSM5075003 c.702C>T p.H234H Substitution - coding silent 8:458410-458410 + CSCC-11-T COSM4489589 c.349C>T p.Q117* Substitution - Nonsense 8:435675-435675 + TCGA-A6-5661-01 COSM1457062 c.1087G>A p.D363N Substitution - Missense 8:468787-468787 + TCGA-C8-A1HG-01 COSM454562 c.961C>T p.R321W Substitution - Missense 8:463124-463124 + LU-1991 COSM5615987 c.858G>C p.L286F Substitution - Missense 8:463021-463021 + TCGA-AQ-A54N-01 COSM3834734 c.988G>T p.D330Y Substitution - Missense 8:467720-467720 + 403 COSM4429958 c.1015-2A>G p.? Unknown 8:468713-468713 + NCI-H1395 COSM22068 c.570T>A p.S190S Substitution - coding silent 8:451363-451363 + Pat_41_A COSM454562 c.961C>T p.R321W Substitution - Missense 8:463124-463124 + 254 COSM3731595 c.436A>C p.K146Q Substitution - Missense 8:450044-450044 + BD88T COSM5505560 c.844-1G>T p.? Unknown 8:463006-463006 + S02291 COSM5687093 c.277A>G p.S93G Substitution - Missense 8:432924-432924 + TCGA-B5-A11E-01 COSM1099813 c.604C>T p.R202* Substitution - Nonsense 8:451397-451397 + S26_pre COSM5574629 c.106A>G p.N36D Substitution - Missense 8:413185-413185 + TCGA-BR-4184-01 COSM3900135 c.624C>T p.A208A Substitution - coding silent 8:451417-451417 + SNUH_G16_S1 COSM3763335 c.138C>G p.I46M Substitution - Missense 8:431344-431344 + SNUH_G26_S1 COSM3763328 c.113G>A p.R38H Substitution - Missense 8:413192-413192 + PR-04-3347 COSM244468 c.657T>A p.T219T Substitution - coding silent 8:451450-451450 + TCGA-D1-A17Q-01 COSM1099812 c.497C>A p.P166H Substitution - Missense 8:451290-451290 + CSCC-45-T COSM4499660 c.547C>T p.L183F Substitution - Missense 8:451340-451340 + TCGA-BS-A0TJ-01 COSM1099403 c.75T>C p.C25C Substitution - coding silent 8:413154-413154 + TCGA-BR-4292-01 COSM3900133 c.426C>T p.G142G Substitution - coding silent 8:450034-450034 + TCGA-60-2698-01 COSM750377 c.507C>G p.I169M Substitution - Missense 8:451300-451300 + TCGA-DS-A0VN-01 COSM461440 c.469C>G p.Q157E Substitution - Missense 8:450077-450077 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.438444;Hs.438451;Hs.438453;Hs.438454 8p23.3 609098 1525928|dbSNP|BC020249|C/G|non-coding||1223|Validated; 1525928|dbSNP|BC050393|C/G|non-coding||1411|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I206V c.616A>G 8 401409 BRCA A G Missense p.Q274R c.821A>G 8 408529 LUAD A G Missense p.T354A c.1060A>G 8 418760 HC A T Nonsense p.K66* c.196A>T 8 381402 HNSC C A Missense p.A347D c.1040C>A 8 418740 OV C A Missense p.Q79K c.235C>A 8 381441 CM C A Missense p.T76K c.227C>A 8 381433 CM C G Missense p.L173V c.517C>G 8 401310 LUAD C G Nonsense p.S113* c.338C>G 8 385664 BLCA C T Missense p.P166L c.497C>T 8 401290 CM C T Missense p.R321W c.961C>T 8 413124 BRCA C T Synonymous p.G142G c.426C>T 8 400034 STAD C T Synonymous p.I119I c.357C>T 8 385683 CM C T Synonymous p.I155I c.465C>T 8 400073 CM G A Missense p.C344Y c.1031G>A 8 418731 STAD G A Synonymous p.K23K c.69G>A 8 363148 CM G C Missense p.L286F c.858G>C 8 413021 NSCLC T C Synonymous p.C320C c.960T>C 8 413123 LUAD T G Missense p.L298V c.892T>G 8 413055 HC