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 20 389408 389408 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr20:389408G>A c.7G>A c.(7-9)Gag>Aag p.E3K BLCA 20 390551 390551 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr20:390551C>G c.49C>G c.(49-51)Cga>Gga p.R17G BLCA 20 390664 390664 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr20:390664C>T c.162C>T c.(160-162)gaC>gaT p.D54D BLCA 20 401519 401521 + In_Frame_Del DEL AGC AGC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr20:401519_401521delAGC c.761_763delAGC c.(760-765)aagcag>aag p.Q258del BLCA 20 408112 408112 + Silent SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr20:408112C>T c.1185C>T c.(1183-1185)ttC>ttT p.F395F COAD 20 398431 398431 + Missense_Mutation SNP G G A TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr20:398431G>A c.317G>A c.(316-318)cGg>cAg p.R106Q COAD 20 400074 400074 + Missense_Mutation SNP G G A TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr20:400074G>A c.544G>A c.(544-546)Gga>Aga p.G182R COADREAD 20 390535 390535 + Missense_Mutation SNP G G A TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr20:390535G>A c.33G>A c.(31-33)atG>atA p.M11I COADREAD 20 398431 398431 + Missense_Mutation SNP G G A TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr20:398431G>A c.317G>A c.(316-318)cGg>cAg p.R106Q COADREAD 20 400074 400074 + Missense_Mutation SNP G G A TCGA-DM-A28C-01A-11D-A16V-10 TCGA-DM-A28C-10A-01D-A16V-10 g.chr20:400074G>A c.544G>A c.(544-546)Gga>Aga p.G182R DLBC 20 398175 398175 + Missense_Mutation SNP G G C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr20:398175G>C c.173G>C c.(172-174)tGg>tCg p.W58S ESCA 20 409671 409671 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr20:409671G>T c.1385G>T c.(1384-1386)tGg>tTg p.W462L GBM 20 390566 390566 + Missense_Mutation SNP G G A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 g.chr20:390566G>A c.64G>A c.(64-66)Ggg>Agg p.G22R GBM 20 409649 409649 + Nonsense_Mutation SNP C C T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr20:409649C>T c.1363C>T c.(1363-1365)Cag>Tag p.Q455* GBMLGG 20 390566 390566 + Missense_Mutation SNP G G A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 g.chr20:390566G>A c.64G>A c.(64-66)Ggg>Agg p.G22R GBMLGG 20 409649 409649 + Nonsense_Mutation SNP C C T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr20:409649C>T c.1363C>T c.(1363-1365)Cag>Tag p.Q455* HNSC 20 398246 398246 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 g.chr20:398246G>A c.244G>A c.(244-246)Gcg>Acg p.A82T HNSC 20 398254 398254 + Silent SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr20:398254C>G c.252C>G c.(250-252)ctC>ctG p.L84L HNSC 20 398389 398389 + Missense_Mutation SNP A A G TCGA-QK-A8Z9-01B-11D-A391-08 TCGA-QK-A8Z9-10A-01D-A394-08 g.chr20:398389A>G c.275A>G c.(274-276)tAt>tGt p.Y92C HNSC 20 398399 398399 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr20:398399A>G c.285A>G c.(283-285)ccA>ccG p.P95P HNSC 20 398533 398533 + Missense_Mutation SNP C C G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 g.chr20:398533C>G c.419C>G c.(418-420)cCt>cGt p.P140R HNSC 20 402811 402811 + Nonsense_Mutation SNP G G T TCGA-CV-7411-01A-11D-2078-08 TCGA-CV-7411-10A-01D-2078-08 g.chr20:402811G>T c.958G>T c.(958-960)Gag>Tag p.E320* HNSC 20 408138 408138 + Splice_Site SNP T T C TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr20:408138T>C c.e9+2 KICH 20 398443 398443 + Missense_Mutation SNP A A T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr20:398443A>T c.329A>T c.(328-330)gAc>gTc p.D110V KICH 20 400073 400074 + Frame_Shift_Ins INS - - G TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr20:400073_400074insG c.543_544insG c.(544-546)ggafs p.G182fs KIPAN 20 398443 398443 + Missense_Mutation SNP A A T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr20:398443A>T c.329A>T c.(328-330)gAc>gTc p.D110V KIPAN 20 400073 400074 + Frame_Shift_Ins INS - - G TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr20:400073_400074insG c.543_544insG c.(544-546)ggafs p.G182fs KIPAN 20 402784 402784 + Missense_Mutation SNP G G A TCGA-CJ-4641-01A-02D-1386-10 TCGA-CJ-4641-11A-01D-1251-10 g.chr20:402784G>A c.931G>A c.(931-933)Ggc>Agc p.G311S KIRC 20 402784 402784 + Missense_Mutation SNP G G A TCGA-CJ-4641-01A-02D-1386-10 TCGA-CJ-4641-11A-01D-1251-10 g.chr20:402784G>A c.931G>A c.(931-933)Ggc>Agc p.G311S LIHC 20 400070 400071 + Frame_Shift_Ins INS - - C TCGA-DD-A114-01A-11D-A12Z-10 TCGA-DD-A114-10A-01D-A12Z-10 g.chr20:400070_400071insC c.540_541insC c.(541-543)cccfs p.P181fs LIHC 20 400215 400215 + Missense_Mutation SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr20:400215G>A c.596G>A c.(595-597)tGc>tAc p.C199Y LUAD 20 398183 398183 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr20:398183G>A c.181G>A c.(181-183)Gtg>Atg p.V61M LUSC 20 398440 398440 + Missense_Mutation SNP G G A TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr20:398440G>A c.326G>A c.(325-327)cGa>cAa p.R109Q LUSC 20 409639 409639 + Silent SNP G G A TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr20:409639G>A c.1353G>A c.(1351-1353)caG>caA p.Q451Q PAAD 20 390527 390527 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:390527G>T c.25G>T c.(25-27)Gag>Tag p.E9* PAAD 20 400073 400074 + Frame_Shift_Ins INS - - G TCGA-2J-AABU-01A-11D-A40W-08 TCGA-2J-AABU-10A-01D-A40W-08 g.chr20:400073_400074insG c.543_544insG c.(544-546)ggafs p.G182fs PAAD 20 400247 400247 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:400247C>T c.628C>T c.(628-630)Cgg>Tgg p.R210W PAAD 20 409726 409726 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:409726C>T c.1440C>T c.(1438-1440)cgC>cgT p.R480R PRAD 20 390566 390566 + Missense_Mutation SNP G G A TCGA-ZG-A9LB-01A-11D-A41K-08 TCGA-ZG-A9LB-10A-01D-A41N-08 g.chr20:390566G>A c.64G>A c.(64-66)Ggg>Agg p.G22R PRAD 20 409724 409724 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr20:409724C>T c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C READ 20 390535 390535 + Missense_Mutation SNP G G A TCGA-AG-3896-01A-01W-1073-09 TCGA-AG-3896-10A-01W-1073-09 g.chr20:390535G>A c.33G>A c.(31-33)atG>atA p.M11I SKCM 20 400039 400039 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr20:400039C>T c.509C>T c.(508-510)cCa>cTa p.P170L SKCM 20 409599 409599 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr20:409599T>C c.1313T>C c.(1312-1314)aTg>aCg p.M438T SKCM 20 409647 409647 + Missense_Mutation SNP T T C TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr20:409647T>C c.1361T>C c.(1360-1362)gTa>gCa p.V454A SKCM 20 411013 411013 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr20:411013G>A c.1472G>A c.(1471-1473)gGg>gAg p.G491E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 20 400061 400061 single base substitution C T downstream_gene_variant AML-US 20 400061 400061 single base substitution C T exon_variant AML-US 20 400061 400061 single base substitution C T missense_variant S61F 182C>T AML-US 20 400061 400061 single base substitution C T synonymous_variant V135V 405C>T AML-US 20 400061 400061 single base substitution C T synonymous_variant V177V 531C>T AML-US 20 400061 400061 single base substitution C T synonymous_variant V209V 627C>T AML-US 20 400061 400061 single base substitution C T upstream_gene_variant BLCA-US 20 389408 389408 single base substitution G A 5_prime_UTR_variant BLCA-US 20 389408 389408 single base substitution G A downstream_gene_variant BLCA-US 20 389408 389408 single base substitution G A exon_variant BLCA-US 20 389408 389408 single base substitution G A missense_variant E3K 7G>A BLCA-US 20 389408 389408 single base substitution G A missense_variant R9Q 26G>A BLCA-US 20 389408 389408 single base substitution G A upstream_gene_variant BLCA-US 20 390664 390664 single base substitution C T downstream_gene_variant BLCA-US 20 390664 390664 single base substitution C T exon_variant BLCA-US 20 390664 390664 single base substitution C T intron_variant BLCA-US 20 390664 390664 single base substitution C T synonymous_variant D45D 135C>T BLCA-US 20 390664 390664 single base substitution C T synonymous_variant D53D 159C>T BLCA-US 20 390664 390664 single base substitution C T synonymous_variant D54D 162C>T BLCA-US 20 401519 401521 deletion of <=200bp AGC - downstream_gene_variant BLCA-US 20 401519 401521 deletion of <=200bp AGC - exon_variant BLCA-US 20 401519 401521 deletion of <=200bp AGC - inframe_deletion KQ212K BLCA-US 20 401519 401521 deletion of <=200bp AGC - inframe_deletion KQ254K BLCA-US 20 401519 401521 deletion of <=200bp AGC - intron_variant BLCA-US 20 401519 401521 deletion of <=200bp AGC - upstream_gene_variant BRCA-EU 20 383199 383199 single base substitution G A upstream_gene_variant BRCA-EU 20 383356 383356 single base substitution G C upstream_gene_variant BRCA-EU 20 383428 383428 single base substitution C G upstream_gene_variant BRCA-EU 20 384510 384510 single base substitution C G upstream_gene_variant BRCA-EU 20 386846 386846 single base substitution C A upstream_gene_variant BRCA-EU 20 389815 389815 single base substitution T G downstream_gene_variant BRCA-EU 20 389815 389815 single base substitution T G intron_variant BRCA-EU 20 389815 389815 single base substitution T G upstream_gene_variant BRCA-EU 20 390816 390816 single base substitution G A downstream_gene_variant BRCA-EU 20 390816 390816 single base substitution G A intron_variant BRCA-EU 20 392097 392097 single base substitution C A downstream_gene_variant BRCA-EU 20 392097 392097 single base substitution C A intron_variant BRCA-EU 20 393101 393101 single base substitution T C downstream_gene_variant BRCA-EU 20 393101 393101 single base substitution T C intron_variant BRCA-EU 20 393762 393762 single base substitution T C downstream_gene_variant BRCA-EU 20 393762 393762 single base substitution T C intron_variant BRCA-EU 20 394957 394957 single base substitution G A downstream_gene_variant BRCA-EU 20 394957 394957 single base substitution G A intron_variant BRCA-EU 20 396978 396978 deletion of <=200bp G - intron_variant BRCA-EU 20 399945 399945 single base substitution C G downstream_gene_variant BRCA-EU 20 399945 399945 single base substitution C G intron_variant BRCA-EU 20 399945 399945 single base substitution C G upstream_gene_variant BRCA-EU 20 400760 400760 single base substitution C T downstream_gene_variant BRCA-EU 20 400760 400760 single base substitution C T intron_variant BRCA-EU 20 400760 400760 single base substitution C T upstream_gene_variant BRCA-EU 20 400878 400878 single base substitution G A downstream_gene_variant BRCA-EU 20 400878 400878 single base substitution G A intron_variant BRCA-EU 20 400878 400878 single base substitution G A upstream_gene_variant BRCA-EU 20 401721 401721 single base substitution C T downstream_gene_variant BRCA-EU 20 401721 401721 single base substitution C T intron_variant BRCA-EU 20 401721 401721 single base substitution C T upstream_gene_variant BRCA-EU 20 402347 402347 single base substitution G A downstream_gene_variant BRCA-EU 20 402347 402347 single base substitution G A intron_variant BRCA-EU 20 402347 402347 single base substitution G A upstream_gene_variant BRCA-EU 20 404122 404122 single base substitution C T downstream_gene_variant BRCA-EU 20 404122 404122 single base substitution C T intron_variant BRCA-EU 20 406081 406081 single base substitution T C intron_variant BRCA-EU 20 406617 406617 single base substitution T C intron_variant BRCA-EU 20 408543 408543 single base substitution C T intron_variant BRCA-EU 20 409014 409014 single base substitution T G intron_variant BRCA-EU 20 409564 409564 single base substitution C T exon_variant BRCA-EU 20 409564 409564 single base substitution C T intron_variant BRCA-EU 20 412133 412133 single base substitution C T downstream_gene_variant BRCA-EU 20 412338 412338 single base substitution C T downstream_gene_variant BRCA-EU 20 413801 413801 single base substitution G T downstream_gene_variant BRCA-EU 20 415398 415398 single base substitution G A downstream_gene_variant BRCA-EU 20 415405 415410 deletion of <=200bp ACGACT - downstream_gene_variant BRCA-EU 20 415744 415744 single base substitution C T downstream_gene_variant BRCA-EU 20 416028 416028 single base substitution G A downstream_gene_variant BRCA-FR 20 390268 390268 single base substitution G T downstream_gene_variant BRCA-FR 20 390268 390268 single base substitution G T intron_variant BRCA-FR 20 390268 390268 single base substitution G T upstream_gene_variant BRCA-FR 20 404122 404122 single base substitution C T downstream_gene_variant BRCA-FR 20 404122 404122 single base substitution C T intron_variant BRCA-UK 20 391113 391113 single base substitution G A downstream_gene_variant BRCA-UK 20 391113 391113 single base substitution G A exon_variant BRCA-UK 20 391113 391113 single base substitution G A intron_variant BRCA-UK 20 391113 391113 single base substitution G A synonymous_variant R33R 99G>A BRCA-UK 20 391113 391113 single base substitution G A synonymous_variant R75R 225G>A BRCA-UK 20 391201 391201 single base substitution A G downstream_gene_variant BRCA-UK 20 391201 391201 single base substitution A G exon_variant BRCA-UK 20 391201 391201 single base substitution A G intron_variant BRCA-UK 20 391201 391201 single base substitution A G missense_variant N105D 313A>G BRCA-UK 20 391201 391201 single base substitution A G missense_variant N63D 187A>G BTCA-JP 20 400074 400074 single base substitution G C downstream_gene_variant BTCA-JP 20 400074 400074 single base substitution G C exon_variant BTCA-JP 20 400074 400074 single base substitution G C missense_variant G140R 418G>C BTCA-JP 20 400074 400074 single base substitution G C missense_variant G182R 544G>C BTCA-JP 20 400074 400074 single base substitution G C missense_variant G214R 640G>C BTCA-JP 20 400074 400074 single base substitution G C synonymous_variant P65P 195G>C BTCA-JP 20 400074 400074 single base substitution G C upstream_gene_variant BTCA-JP 20 400505 400522 deletion of <=200bp GTGACCCTGCACCTGGCT - downstream_gene_variant BTCA-JP 20 400505 400522 deletion of <=200bp GTGACCCTGCACCTGGCT - intron_variant BTCA-JP 20 400505 400522 deletion of <=200bp GTGACCCTGCACCTGGCT - upstream_gene_variant BTCA-JP 20 409140 409140 single base substitution C G 3_prime_UTR_variant BTCA-JP 20 409140 409140 single base substitution C G exon_variant BTCA-JP 20 409140 409140 single base substitution C G missense_variant I235M 705C>G BTCA-JP 20 409140 409140 single base substitution C G missense_variant I363M 1089C>G BTCA-JP 20 409140 409140 single base substitution C G missense_variant I405M 1215C>G BTCA-JP 20 409144 409144 single base substitution G A 3_prime_UTR_variant BTCA-JP 20 409144 409144 single base substitution G A exon_variant BTCA-JP 20 409144 409144 single base substitution G A missense_variant E237K 709G>A BTCA-JP 20 409144 409144 single base substitution G A missense_variant E365K 1093G>A BTCA-JP 20 409144 409144 single base substitution G A missense_variant E407K 1219G>A BTCA-JP 20 410960 410960 single base substitution G A intron_variant CESC-US 20 389369 389369 single base substitution T C 5_prime_UTR_variant CESC-US 20 389369 389369 single base substitution T C exon_variant CESC-US 20 389369 389369 single base substitution T C upstream_gene_variant COAD-US 20 398227 398227 single base substitution G T 5_prime_UTR_variant COAD-US 20 398227 398227 single base substitution G T exon_variant COAD-US 20 398227 398227 single base substitution G T synonymous_variant V107V 321G>T COAD-US 20 398227 398227 single base substitution G T synonymous_variant V33V 99G>T COAD-US 20 398227 398227 single base substitution G T synonymous_variant V74V 222G>T COAD-US 20 398227 398227 single base substitution G T synonymous_variant V75V 225G>T COAD-US 20 398227 398227 single base substitution G T upstream_gene_variant COAD-US 20 398431 398431 single base substitution G A 5_prime_UTR_variant COAD-US 20 398431 398431 single base substitution G A exon_variant COAD-US 20 398431 398431 single base substitution G A missense_variant R105Q 314G>A COAD-US 20 398431 398431 single base substitution G A missense_variant R106Q 317G>A COAD-US 20 398431 398431 single base substitution G A missense_variant R138Q 413G>A COAD-US 20 398431 398431 single base substitution G A missense_variant R64Q 191G>A COAD-US 20 398431 398431 single base substitution G A upstream_gene_variant COCA-CN 20 389384 389385 multiple base substitution (>=2bp and <=200bp) TG GT 5_prime_UTR_variant COCA-CN 20 389384 389385 multiple base substitution (>=2bp and <=200bp) TG GT exon_variant COCA-CN 20 389384 389385 multiple base substitution (>=2bp and <=200bp) TG GT start_lost M1S 2TG>GT COCA-CN 20 389384 389385 multiple base substitution (>=2bp and <=200bp) TG GT upstream_gene_variant COCA-CN 20 398284 398284 single base substitution C T intron_variant COCA-CN 20 398284 398284 single base substitution C T upstream_gene_variant COCA-CN 20 402718 402718 single base substitution C T downstream_gene_variant COCA-CN 20 402718 402718 single base substitution C T intron_variant COCA-CN 20 402718 402718 single base substitution C T upstream_gene_variant COCA-CN 20 410959 410959 single base substitution C T intron_variant COCA-CN 20 411149 411149 single base substitution G A 3_prime_UTR_variant COCA-CN 20 411149 411149 single base substitution G A exon_variant ESAD-UK 20 383302 383302 single base substitution T A upstream_gene_variant ESAD-UK 20 384469 384469 single base substitution C A upstream_gene_variant ESAD-UK 20 385982 385982 insertion of <=200bp - T upstream_gene_variant ESAD-UK 20 387734 387734 single base substitution A G upstream_gene_variant ESAD-UK 20 390290 390290 single base substitution G T downstream_gene_variant ESAD-UK 20 390290 390290 single base substitution G T intron_variant ESAD-UK 20 390290 390290 single base substitution G T upstream_gene_variant ESAD-UK 20 392676 392677 deletion of <=200bp TA - downstream_gene_variant ESAD-UK 20 392676 392677 deletion of <=200bp TA - intron_variant ESAD-UK 20 393932 393932 single base substitution C G downstream_gene_variant ESAD-UK 20 393932 393932 single base substitution C G intron_variant ESAD-UK 20 396013 396013 insertion of <=200bp - A downstream_gene_variant ESAD-UK 20 396013 396013 insertion of <=200bp - A intron_variant ESAD-UK 20 404216 404216 single base substitution A G downstream_gene_variant ESAD-UK 20 404216 404216 single base substitution A G intron_variant ESAD-UK 20 404872 404872 single base substitution T G downstream_gene_variant ESAD-UK 20 404872 404872 single base substitution T G intron_variant ESAD-UK 20 405875 405875 single base substitution G C intron_variant ESAD-UK 20 407589 407589 single base substitution C G intron_variant ESAD-UK 20 408018 408018 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 408018 408018 single base substitution G A exon_variant ESAD-UK 20 408018 408018 single base substitution G A missense_variant R194H 581G>A ESAD-UK 20 408018 408018 single base substitution G A missense_variant R322H 965G>A ESAD-UK 20 408018 408018 single base substitution G A missense_variant R364H 1091G>A ESAD-UK 20 410120 410120 single base substitution T G intron_variant ESAD-UK 20 411756 411756 single base substitution G C downstream_gene_variant ESAD-UK 20 412074 412074 single base substitution G A downstream_gene_variant ESAD-UK 20 412363 412364 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 20 412913 412913 single base substitution G A downstream_gene_variant ESAD-UK 20 413924 413924 single base substitution A C downstream_gene_variant ESAD-UK 20 415590 415590 single base substitution C T downstream_gene_variant ESAD-UK 20 415980 415980 single base substitution C T downstream_gene_variant ESAD-UK 20 416491 416491 single base substitution G A downstream_gene_variant ESCA-CN 20 389330 389330 single base substitution C T 5_prime_UTR_variant ESCA-CN 20 389330 389330 single base substitution C T exon_variant ESCA-CN 20 389330 389330 single base substitution C T splice_region_variant ESCA-CN 20 389330 389330 single base substitution C T upstream_gene_variant GBM-US 20 390566 390566 single base substitution G A downstream_gene_variant GBM-US 20 390566 390566 single base substitution G A exon_variant GBM-US 20 390566 390566 single base substitution G A intron_variant GBM-US 20 390566 390566 single base substitution G A missense_variant G13R 37G>A GBM-US 20 390566 390566 single base substitution G A missense_variant G21R 61G>A GBM-US 20 390566 390566 single base substitution G A missense_variant G22R 64G>A GBM-US 20 409649 409649 single base substitution C T 3_prime_UTR_variant GBM-US 20 409649 409649 single base substitution C T exon_variant GBM-US 20 409649 409649 single base substitution C T stop_gained Q285* 853C>T GBM-US 20 409649 409649 single base substitution C T stop_gained Q413* 1237C>T GBM-US 20 409649 409649 single base substitution C T stop_gained Q455* 1363C>T KIRC-US 20 402784 402784 single base substitution G A downstream_gene_variant KIRC-US 20 402784 402784 single base substitution G A exon_variant KIRC-US 20 402784 402784 single base substitution G A missense_variant G141S 421G>A KIRC-US 20 402784 402784 single base substitution G A missense_variant G269S 805G>A KIRC-US 20 402784 402784 single base substitution G A missense_variant G311S 931G>A KIRC-US 20 402784 402784 single base substitution G A upstream_gene_variant KIRC-US 20 409176 409176 single base substitution C A 3_prime_UTR_variant KIRC-US 20 409176 409176 single base substitution C A exon_variant KIRC-US 20 409176 409176 single base substitution C A missense_variant D247E 741C>A KIRC-US 20 409176 409176 single base substitution C A missense_variant D375E 1125C>A KIRC-US 20 409176 409176 single base substitution C A missense_variant D417E 1251C>A KIRC-US 20 411016 411016 insertion of <=200bp - C 3_prime_UTR_variant KIRC-US 20 411016 411016 insertion of <=200bp - C exon_variant KIRC-US 20 411016 411016 insertion of <=200bp - C frameshift_variant G322A? KIRC-US 20 411016 411016 insertion of <=200bp - C frameshift_variant G450A? KIRC-US 20 411016 411016 insertion of <=200bp - C frameshift_variant G492A? LICA-FR 20 385372 385372 insertion of <=200bp - A upstream_gene_variant LICA-FR 20 394562 394563 deletion of <=200bp AA - downstream_gene_variant LICA-FR 20 394562 394563 deletion of <=200bp AA - intron_variant LICA-FR 20 400085 400085 single base substitution G T downstream_gene_variant LICA-FR 20 400085 400085 single base substitution G T exon_variant LICA-FR 20 400085 400085 single base substitution G T missense_variant Q143H 429G>T LICA-FR 20 400085 400085 single base substitution G T missense_variant Q185H 555G>T LICA-FR 20 400085 400085 single base substitution G T missense_variant Q217H 651G>T LICA-FR 20 400085 400085 single base substitution G T missense_variant S69I 206G>T LICA-FR 20 400085 400085 single base substitution G T upstream_gene_variant LINC-JP 20 390272 390272 single base substitution A G downstream_gene_variant LINC-JP 20 390272 390272 single base substitution A G intron_variant LINC-JP 20 390272 390272 single base substitution A G upstream_gene_variant LINC-JP 20 398225 398225 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 20 398225 398225 single base substitution G A exon_variant LINC-JP 20 398225 398225 single base substitution G A missense_variant V107M 319G>A LINC-JP 20 398225 398225 single base substitution G A missense_variant V33M 97G>A LINC-JP 20 398225 398225 single base substitution G A missense_variant V74M 220G>A LINC-JP 20 398225 398225 single base substitution G A missense_variant V75M 223G>A LINC-JP 20 398225 398225 single base substitution G A upstream_gene_variant LINC-JP 20 406154 406154 single base substitution A G intron_variant LINC-JP 20 411036 411036 single base substitution G A 3_prime_UTR_variant LINC-JP 20 411036 411036 single base substitution G A exon_variant LINC-JP 20 411036 411036 single base substitution G A missense_variant G329R 985G>A LINC-JP 20 411036 411036 single base substitution G A missense_variant G457R 1369G>A LINC-JP 20 411036 411036 single base substitution G A missense_variant G499R 1495G>A LIRI-JP 20 398410 398410 single base substitution A G 5_prime_UTR_variant LIRI-JP 20 398410 398410 single base substitution A G exon_variant LIRI-JP 20 398410 398410 single base substitution A G missense_variant Q131R 392A>G LIRI-JP 20 398410 398410 single base substitution A G missense_variant Q57R 170A>G LIRI-JP 20 398410 398410 single base substitution A G missense_variant Q98R 293A>G LIRI-JP 20 398410 398410 single base substitution A G missense_variant Q99R 296A>G LIRI-JP 20 398410 398410 single base substitution A G upstream_gene_variant LIRI-JP 20 404842 404842 single base substitution T A downstream_gene_variant LIRI-JP 20 404842 404842 single base substitution T A intron_variant LIRI-JP 20 405106 405106 single base substitution A G downstream_gene_variant LIRI-JP 20 405106 405106 single base substitution A G intron_variant LIRI-JP 20 409650 409652 deletion of <=200bp AGA - 3_prime_UTR_variant LIRI-JP 20 409650 409652 deletion of <=200bp AGA - exon_variant LIRI-JP 20 409650 409652 deletion of <=200bp AGA - inframe_deletion QK285Q LIRI-JP 20 409650 409652 deletion of <=200bp AGA - inframe_deletion QK413Q LIRI-JP 20 409650 409652 deletion of <=200bp AGA - inframe_deletion QK455Q LIRI-JP 20 415425 415425 single base substitution C T downstream_gene_variant LIRI-JP 20 415593 415593 single base substitution G A downstream_gene_variant LIRI-JP 20 415821 415821 single base substitution G A downstream_gene_variant LUSC-KR 20 384987 384987 single base substitution C T upstream_gene_variant LUSC-KR 20 387376 387376 single base substitution A G upstream_gene_variant LUSC-KR 20 388918 388918 single base substitution G C 5_prime_UTR_variant LUSC-KR 20 388918 388918 single base substitution G C intron_variant LUSC-KR 20 388918 388918 single base substitution G C upstream_gene_variant LUSC-KR 20 392293 392293 single base substitution G T downstream_gene_variant LUSC-KR 20 392293 392293 single base substitution G T intron_variant LUSC-KR 20 396131 396131 single base substitution T C downstream_gene_variant LUSC-KR 20 396131 396131 single base substitution T C intron_variant LUSC-KR 20 404059 404059 single base substitution C G downstream_gene_variant LUSC-KR 20 404059 404059 single base substitution C G intron_variant LUSC-KR 20 405885 405885 single base substitution C G intron_variant LUSC-KR 20 406122 406122 single base substitution G T intron_variant LUSC-KR 20 408596 408596 single base substitution C A intron_variant LUSC-KR 20 414035 414035 single base substitution C T downstream_gene_variant LUSC-US 20 398440 398440 single base substitution G A 5_prime_UTR_variant LUSC-US 20 398440 398440 single base substitution G A exon_variant LUSC-US 20 398440 398440 single base substitution G A missense_variant R108Q 323G>A LUSC-US 20 398440 398440 single base substitution G A missense_variant R109Q 326G>A LUSC-US 20 398440 398440 single base substitution G A missense_variant R141Q 422G>A LUSC-US 20 398440 398440 single base substitution G A missense_variant R67Q 200G>A LUSC-US 20 398440 398440 single base substitution G A upstream_gene_variant LUSC-US 20 409639 409639 single base substitution G A 3_prime_UTR_variant LUSC-US 20 409639 409639 single base substitution G A exon_variant LUSC-US 20 409639 409639 single base substitution G A synonymous_variant Q281Q 843G>A LUSC-US 20 409639 409639 single base substitution G A synonymous_variant Q409Q 1227G>A LUSC-US 20 409639 409639 single base substitution G A synonymous_variant Q451Q 1353G>A MALY-DE 20 396092 396092 single base substitution T G downstream_gene_variant MALY-DE 20 396092 396092 single base substitution T G intron_variant MALY-DE 20 398040 398041 deletion of <=200bp TG - intron_variant MALY-DE 20 398040 398041 deletion of <=200bp TG - upstream_gene_variant MALY-DE 20 399245 399245 single base substitution T C downstream_gene_variant MALY-DE 20 399245 399245 single base substitution T C intron_variant MALY-DE 20 399245 399245 single base substitution T C upstream_gene_variant MALY-DE 20 399247 399247 single base substitution T C downstream_gene_variant MALY-DE 20 399247 399247 single base substitution T C intron_variant MALY-DE 20 399247 399247 single base substitution T C upstream_gene_variant MALY-DE 20 401152 401152 single base substitution A G downstream_gene_variant MALY-DE 20 401152 401152 single base substitution A G intron_variant MALY-DE 20 401152 401152 single base substitution A G upstream_gene_variant MALY-DE 20 412671 412671 single base substitution C G downstream_gene_variant MALY-DE 20 413918 413918 single base substitution G A downstream_gene_variant MELA-AU 20 383364 383364 single base substitution G A upstream_gene_variant MELA-AU 20 383566 383566 single base substitution C T upstream_gene_variant MELA-AU 20 383798 383798 single base substitution C T upstream_gene_variant MELA-AU 20 384747 384747 single base substitution G A upstream_gene_variant MELA-AU 20 386485 386485 single base substitution G A upstream_gene_variant MELA-AU 20 386919 386919 single base substitution G A upstream_gene_variant MELA-AU 20 388902 388902 single base substitution C T 5_prime_UTR_variant MELA-AU 20 388902 388902 single base substitution C T intron_variant MELA-AU 20 388902 388902 single base substitution C T upstream_gene_variant MELA-AU 20 389355 389355 single base substitution C T 5_prime_UTR_variant MELA-AU 20 389355 389355 single base substitution C T exon_variant MELA-AU 20 389355 389355 single base substitution C T upstream_gene_variant MELA-AU 20 389356 389357 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 20 389356 389357 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 20 389356 389357 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 389685 389685 single base substitution C T downstream_gene_variant MELA-AU 20 389685 389685 single base substitution C T intron_variant MELA-AU 20 389685 389685 single base substitution C T upstream_gene_variant MELA-AU 20 390217 390218 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 390217 390218 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 390217 390218 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 390403 390403 single base substitution G C downstream_gene_variant MELA-AU 20 390403 390403 single base substitution G C intron_variant MELA-AU 20 390403 390403 single base substitution G C upstream_gene_variant MELA-AU 20 390423 390423 single base substitution G A downstream_gene_variant MELA-AU 20 390423 390423 single base substitution G A intron_variant MELA-AU 20 390423 390423 single base substitution G A upstream_gene_variant MELA-AU 20 390511 390511 single base substitution G A downstream_gene_variant MELA-AU 20 390511 390511 single base substitution G A exon_variant MELA-AU 20 390511 390511 single base substitution G A intron_variant MELA-AU 20 390511 390511 single base substitution G A upstream_gene_variant MELA-AU 20 390526 390526 single base substitution A G downstream_gene_variant MELA-AU 20 390526 390526 single base substitution A G exon_variant MELA-AU 20 390526 390526 single base substitution A G intron_variant MELA-AU 20 390526 390526 single base substitution A G splice_acceptor_variant MELA-AU 20 390526 390526 single base substitution A G splice_region_variant MELA-AU 20 390526 390526 single base substitution A G upstream_gene_variant MELA-AU 20 390536 390536 single base substitution G A downstream_gene_variant MELA-AU 20 390536 390536 single base substitution G A exon_variant MELA-AU 20 390536 390536 single base substitution G A intron_variant MELA-AU 20 390536 390536 single base substitution G A missense_variant A11T 31G>A MELA-AU 20 390536 390536 single base substitution G A missense_variant A12T 34G>A MELA-AU 20 390536 390536 single base substitution G A missense_variant A3T 7G>A MELA-AU 20 390572 390572 single base substitution G A downstream_gene_variant MELA-AU 20 390572 390572 single base substitution G A exon_variant MELA-AU 20 390572 390572 single base substitution G A intron_variant MELA-AU 20 390572 390572 single base substitution G A missense_variant E15K 43G>A MELA-AU 20 390572 390572 single base substitution G A missense_variant E23K 67G>A MELA-AU 20 390572 390572 single base substitution G A missense_variant E24K 70G>A MELA-AU 20 390581 390581 single base substitution G T downstream_gene_variant MELA-AU 20 390581 390581 single base substitution G T exon_variant MELA-AU 20 390581 390581 single base substitution G T intron_variant MELA-AU 20 390581 390581 single base substitution G T missense_variant A18S 52G>T MELA-AU 20 390581 390581 single base substitution G T missense_variant A26S 76G>T MELA-AU 20 390581 390581 single base substitution G T missense_variant A27S 79G>T MELA-AU 20 390586 390586 single base substitution G A downstream_gene_variant MELA-AU 20 390586 390586 single base substitution G A exon_variant MELA-AU 20 390586 390586 single base substitution G A intron_variant MELA-AU 20 390586 390586 single base substitution G A missense_variant M19I 57G>A MELA-AU 20 390586 390586 single base substitution G A missense_variant M27I 81G>A MELA-AU 20 390586 390586 single base substitution G A missense_variant M28I 84G>A MELA-AU 20 390736 390736 single base substitution G A downstream_gene_variant MELA-AU 20 390736 390736 single base substitution G A intron_variant MELA-AU 20 390841 390841 single base substitution T A downstream_gene_variant MELA-AU 20 390841 390841 single base substitution T A intron_variant MELA-AU 20 390998 390998 single base substitution C T downstream_gene_variant MELA-AU 20 390998 390998 single base substitution C T intron_variant MELA-AU 20 391209 391209 single base substitution C T 3_prime_UTR_variant MELA-AU 20 391209 391209 single base substitution C T downstream_gene_variant MELA-AU 20 391209 391209 single base substitution C T exon_variant MELA-AU 20 391209 391209 single base substitution C T intron_variant MELA-AU 20 391243 391243 single base substitution A G 3_prime_UTR_variant MELA-AU 20 391243 391243 single base substitution A G downstream_gene_variant MELA-AU 20 391243 391243 single base substitution A G exon_variant MELA-AU 20 391243 391243 single base substitution A G intron_variant MELA-AU 20 393865 393865 single base substitution C T downstream_gene_variant MELA-AU 20 393865 393865 single base substitution C T intron_variant MELA-AU 20 393995 393995 single base substitution C T downstream_gene_variant MELA-AU 20 393995 393995 single base substitution C T intron_variant MELA-AU 20 394337 394337 deletion of <=200bp G - downstream_gene_variant MELA-AU 20 394337 394337 deletion of <=200bp G - intron_variant MELA-AU 20 395537 395537 single base substitution G T downstream_gene_variant MELA-AU 20 395537 395537 single base substitution G T intron_variant MELA-AU 20 395846 395846 single base substitution C G downstream_gene_variant MELA-AU 20 395846 395846 single base substitution C G intron_variant MELA-AU 20 395931 395931 single base substitution C T downstream_gene_variant MELA-AU 20 395931 395931 single base substitution C T intron_variant MELA-AU 20 396402 396402 single base substitution T C downstream_gene_variant MELA-AU 20 396402 396402 single base substitution T C intron_variant MELA-AU 20 397031 397031 single base substitution C T intron_variant MELA-AU 20 398396 398396 single base substitution C T 5_prime_UTR_variant MELA-AU 20 398396 398396 single base substitution C T exon_variant MELA-AU 20 398396 398396 single base substitution C T synonymous_variant F126F 378C>T MELA-AU 20 398396 398396 single base substitution C T synonymous_variant F52F 156C>T MELA-AU 20 398396 398396 single base substitution C T synonymous_variant F93F 279C>T MELA-AU 20 398396 398396 single base substitution C T synonymous_variant F94F 282C>T MELA-AU 20 398396 398396 single base substitution C T upstream_gene_variant MELA-AU 20 398861 398861 single base substitution C T downstream_gene_variant MELA-AU 20 398861 398861 single base substitution C T intron_variant MELA-AU 20 398861 398861 single base substitution C T upstream_gene_variant MELA-AU 20 399644 399644 single base substitution T C downstream_gene_variant MELA-AU 20 399644 399644 single base substitution T C intron_variant MELA-AU 20 399644 399644 single base substitution T C upstream_gene_variant MELA-AU 20 399829 399829 single base substitution G A downstream_gene_variant MELA-AU 20 399829 399829 single base substitution G A intron_variant MELA-AU 20 399829 399829 single base substitution G A upstream_gene_variant MELA-AU 20 399871 399871 single base substitution C T downstream_gene_variant MELA-AU 20 399871 399871 single base substitution C T intron_variant MELA-AU 20 399871 399871 single base substitution C T upstream_gene_variant MELA-AU 20 400072 400072 single base substitution C T downstream_gene_variant MELA-AU 20 400072 400072 single base substitution C T exon_variant MELA-AU 20 400072 400072 single base substitution C T missense_variant P139L 416C>T MELA-AU 20 400072 400072 single base substitution C T missense_variant P181L 542C>T MELA-AU 20 400072 400072 single base substitution C T missense_variant P213L 638C>T MELA-AU 20 400072 400072 single base substitution C T missense_variant P65S 193C>T MELA-AU 20 400072 400072 single base substitution C T upstream_gene_variant MELA-AU 20 400110 400111 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 400110 400111 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant HR77HW MELA-AU 20 400110 400111 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P152L 454CC>TT MELA-AU 20 400110 400111 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P194L 580CC>TT MELA-AU 20 400110 400111 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P226L 676CC>TT MELA-AU 20 400110 400111 multiple base substitution (>=2bp and <=200bp) CC TT splice_region_variant MELA-AU 20 400110 400111 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 400467 400468 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 400467 400468 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 400467 400468 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 400854 400854 single base substitution C T downstream_gene_variant MELA-AU 20 400854 400854 single base substitution C T intron_variant MELA-AU 20 400854 400854 single base substitution C T upstream_gene_variant MELA-AU 20 401812 401812 single base substitution C T downstream_gene_variant MELA-AU 20 401812 401812 single base substitution C T intron_variant MELA-AU 20 401812 401812 single base substitution C T upstream_gene_variant MELA-AU 20 402050 402050 single base substitution C G downstream_gene_variant MELA-AU 20 402050 402050 single base substitution C G intron_variant MELA-AU 20 402050 402050 single base substitution C G upstream_gene_variant MELA-AU 20 402339 402339 single base substitution C T downstream_gene_variant MELA-AU 20 402339 402339 single base substitution C T intron_variant MELA-AU 20 402339 402339 single base substitution C T upstream_gene_variant MELA-AU 20 402517 402517 single base substitution C G downstream_gene_variant MELA-AU 20 402517 402517 single base substitution C G intron_variant MELA-AU 20 402517 402517 single base substitution C G upstream_gene_variant MELA-AU 20 405665 405665 single base substitution T C intron_variant MELA-AU 20 405746 405746 single base substitution C T intron_variant MELA-AU 20 405800 405800 deletion of <=200bp G - intron_variant MELA-AU 20 407512 407512 single base substitution C T intron_variant MELA-AU 20 407539 407539 single base substitution G A intron_variant MELA-AU 20 408687 408687 single base substitution A G intron_variant MELA-AU 20 409085 409085 single base substitution T G intron_variant MELA-AU 20 409487 409487 single base substitution G A exon_variant MELA-AU 20 409487 409487 single base substitution G A intron_variant MELA-AU 20 411200 411200 single base substitution T C 3_prime_UTR_variant MELA-AU 20 411200 411200 single base substitution T C exon_variant MELA-AU 20 411410 411410 single base substitution C T 3_prime_UTR_variant MELA-AU 20 411410 411410 single base substitution C T exon_variant MELA-AU 20 412919 412919 insertion of <=200bp - T downstream_gene_variant MELA-AU 20 415754 415755 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 415761 415761 single base substitution A C downstream_gene_variant MELA-AU 20 416522 416523 multiple base substitution (>=2bp and <=200bp) GG CA downstream_gene_variant ORCA-IN 20 385832 385832 single base substitution A C upstream_gene_variant ORCA-IN 20 401646 401646 single base substitution G T downstream_gene_variant ORCA-IN 20 401646 401646 single base substitution G T exon_variant ORCA-IN 20 401646 401646 single base substitution G T intron_variant ORCA-IN 20 401646 401646 single base substitution G T synonymous_variant V254V 762G>T ORCA-IN 20 401646 401646 single base substitution G T synonymous_variant V296V 888G>T ORCA-IN 20 401646 401646 single base substitution G T upstream_gene_variant ORCA-IN 20 402852 402852 single base substitution G A 3_prime_UTR_variant ORCA-IN 20 402852 402852 single base substitution G A downstream_gene_variant ORCA-IN 20 402852 402852 single base substitution G A exon_variant ORCA-IN 20 402852 402852 single base substitution G A synonymous_variant S163S 489G>A ORCA-IN 20 402852 402852 single base substitution G A synonymous_variant S291S 873G>A ORCA-IN 20 402852 402852 single base substitution G A synonymous_variant S333S 999G>A ORCA-IN 20 409711 409711 single base substitution C T 3_prime_UTR_variant ORCA-IN 20 409711 409711 single base substitution C T exon_variant ORCA-IN 20 409711 409711 single base substitution C T synonymous_variant V305V 915C>T ORCA-IN 20 409711 409711 single base substitution C T synonymous_variant V433V 1299C>T ORCA-IN 20 409711 409711 single base substitution C T synonymous_variant V475V 1425C>T ORCA-IN 20 411037 411037 single base substitution G T 3_prime_UTR_variant ORCA-IN 20 411037 411037 single base substitution G T exon_variant ORCA-IN 20 411037 411037 single base substitution G T missense_variant G329V 986G>T ORCA-IN 20 411037 411037 single base substitution G T missense_variant G457V 1370G>T ORCA-IN 20 411037 411037 single base substitution G T missense_variant G499V 1496G>T ORCA-IN 20 413587 413587 single base substitution A G downstream_gene_variant OV-AU 20 389347 389347 single base substitution T C 5_prime_UTR_variant OV-AU 20 389347 389347 single base substitution T C exon_variant OV-AU 20 389347 389347 single base substitution T C upstream_gene_variant OV-AU 20 390471 390471 single base substitution C G downstream_gene_variant OV-AU 20 390471 390471 single base substitution C G intron_variant OV-AU 20 390471 390471 single base substitution C G splice_region_variant OV-AU 20 390471 390471 single base substitution C G upstream_gene_variant OV-AU 20 392260 392260 single base substitution C T downstream_gene_variant OV-AU 20 392260 392260 single base substitution C T intron_variant OV-AU 20 396947 396947 single base substitution C A intron_variant OV-AU 20 401159 401159 single base substitution A C downstream_gene_variant OV-AU 20 401159 401159 single base substitution A C intron_variant OV-AU 20 401159 401159 single base substitution A C upstream_gene_variant OV-AU 20 404565 404565 single base substitution C T downstream_gene_variant OV-AU 20 404565 404565 single base substitution C T intron_variant PACA-AU 20 392710 392710 single base substitution C G downstream_gene_variant PACA-AU 20 392710 392710 single base substitution C G intron_variant PACA-AU 20 396422 396422 single base substitution G T intron_variant PACA-AU 20 396515 396515 single base substitution A G intron_variant PACA-AU 20 397805 397805 insertion of <=200bp - G intron_variant PACA-AU 20 397805 397805 insertion of <=200bp - G upstream_gene_variant PACA-AU 20 399324 399324 single base substitution C A downstream_gene_variant PACA-AU 20 399324 399324 single base substitution C A intron_variant PACA-AU 20 399324 399324 single base substitution C A upstream_gene_variant PACA-AU 20 399905 399905 single base substitution G A downstream_gene_variant PACA-AU 20 399905 399905 single base substitution G A intron_variant PACA-AU 20 399905 399905 single base substitution G A upstream_gene_variant PACA-AU 20 400129 400129 single base substitution C A downstream_gene_variant PACA-AU 20 400129 400129 single base substitution C A intron_variant PACA-AU 20 400129 400129 single base substitution C A upstream_gene_variant PACA-CA 20 385946 385946 single base substitution T C upstream_gene_variant PACA-CA 20 386469 386469 single base substitution G A upstream_gene_variant PACA-CA 20 390993 390993 single base substitution C T downstream_gene_variant PACA-CA 20 390993 390993 single base substitution C T intron_variant PACA-CA 20 392253 392253 single base substitution C T downstream_gene_variant PACA-CA 20 392253 392253 single base substitution C T intron_variant PACA-CA 20 393932 393932 single base substitution C T downstream_gene_variant PACA-CA 20 393932 393932 single base substitution C T intron_variant PACA-CA 20 394724 394724 single base substitution T A downstream_gene_variant PACA-CA 20 394724 394724 single base substitution T A intron_variant PACA-CA 20 398472 398472 single base substitution C T downstream_gene_variant PACA-CA 20 398472 398472 single base substitution C T exon_variant PACA-CA 20 398472 398472 single base substitution C T missense_variant R120W 358C>T PACA-CA 20 398472 398472 single base substitution C T missense_variant R152W 454C>T PACA-CA 20 398472 398472 single base substitution C T missense_variant R78W 232C>T PACA-CA 20 398472 398472 single base substitution C T synonymous_variant C3C 9C>T PACA-CA 20 398472 398472 single base substitution C T upstream_gene_variant PACA-CA 20 398839 398839 single base substitution C G downstream_gene_variant PACA-CA 20 398839 398839 single base substitution C G intron_variant PACA-CA 20 398839 398839 single base substitution C G upstream_gene_variant PACA-CA 20 412734 412734 single base substitution G C downstream_gene_variant PACA-CA 20 414610 414610 single base substitution A G downstream_gene_variant PACA-CA 20 414644 414644 insertion of <=200bp - T downstream_gene_variant PAEN-AU 20 397718 397718 single base substitution G C intron_variant PAEN-AU 20 400425 400425 single base substitution T G downstream_gene_variant PAEN-AU 20 400425 400425 single base substitution T G intron_variant PAEN-AU 20 400425 400425 single base substitution T G upstream_gene_variant PBCA-DE 20 385800 385801 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 20 388727 388727 single base substitution T A 5_prime_UTR_variant PBCA-DE 20 388727 388727 single base substitution T A intron_variant PBCA-DE 20 388727 388727 single base substitution T A upstream_gene_variant PBCA-DE 20 395583 395583 single base substitution A G downstream_gene_variant PBCA-DE 20 395583 395583 single base substitution A G intron_variant PBCA-DE 20 401768 401768 single base substitution C A downstream_gene_variant PBCA-DE 20 401768 401768 single base substitution C A intron_variant PBCA-DE 20 401768 401768 single base substitution C A upstream_gene_variant PBCA-DE 20 413730 413730 single base substitution C T downstream_gene_variant PRAD-CA 20 401984 401984 single base substitution T C downstream_gene_variant PRAD-CA 20 401984 401984 single base substitution T C intron_variant PRAD-CA 20 401984 401984 single base substitution T C upstream_gene_variant PRAD-CA 20 410159 410159 single base substitution C T intron_variant RECA-EU 20 389304 389304 single base substitution T C 5_prime_UTR_variant RECA-EU 20 389304 389304 single base substitution T C exon_variant RECA-EU 20 389304 389304 single base substitution T C intron_variant RECA-EU 20 389304 389304 single base substitution T C upstream_gene_variant RECA-EU 20 393074 393074 single base substitution C T downstream_gene_variant RECA-EU 20 393074 393074 single base substitution C T intron_variant RECA-EU 20 406147 406147 single base substitution T C intron_variant RECA-EU 20 415102 415102 single base substitution G C downstream_gene_variant SKCA-BR 20 383143 383143 single base substitution A T upstream_gene_variant SKCA-BR 20 383803 383803 single base substitution A C upstream_gene_variant SKCA-BR 20 385566 385566 single base substitution G A upstream_gene_variant SKCA-BR 20 386452 386452 single base substitution C A upstream_gene_variant SKCA-BR 20 386586 386586 single base substitution C T upstream_gene_variant SKCA-BR 20 387352 387355 deletion of <=200bp CAAA - upstream_gene_variant SKCA-BR 20 387721 387721 single base substitution G A upstream_gene_variant SKCA-BR 20 387802 387802 single base substitution T G upstream_gene_variant SKCA-BR 20 392049 392049 single base substitution T G downstream_gene_variant SKCA-BR 20 392049 392049 single base substitution T G intron_variant SKCA-BR 20 394561 394562 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 20 394561 394562 deletion of <=200bp CA - intron_variant SKCA-BR 20 394585 394585 single base substitution A C downstream_gene_variant SKCA-BR 20 394585 394585 single base substitution A C intron_variant SKCA-BR 20 399223 399223 single base substitution A G downstream_gene_variant SKCA-BR 20 399223 399223 single base substitution A G intron_variant SKCA-BR 20 399223 399223 single base substitution A G upstream_gene_variant SKCA-BR 20 399245 399245 single base substitution T C downstream_gene_variant SKCA-BR 20 399245 399245 single base substitution T C intron_variant SKCA-BR 20 399245 399245 single base substitution T C upstream_gene_variant SKCA-BR 20 399247 399247 single base substitution T C downstream_gene_variant SKCA-BR 20 399247 399247 single base substitution T C intron_variant SKCA-BR 20 399247 399247 single base substitution T C upstream_gene_variant SKCA-BR 20 403946 403946 insertion of <=200bp - AAT downstream_gene_variant SKCA-BR 20 403946 403946 insertion of <=200bp - AAT intron_variant SKCA-BR 20 405057 405057 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 20 405057 405057 insertion of <=200bp - AC intron_variant SKCA-BR 20 405651 405652 deletion of <=200bp AT - intron_variant SKCM-US 20 400039 400039 single base substitution C T downstream_gene_variant SKCM-US 20 400039 400039 single base substitution C T exon_variant SKCM-US 20 400039 400039 single base substitution C T missense_variant P128L 383C>T SKCM-US 20 400039 400039 single base substitution C T missense_variant P170L 509C>T SKCM-US 20 400039 400039 single base substitution C T missense_variant P202L 605C>T SKCM-US 20 400039 400039 single base substitution C T stop_gained Q54* 160C>T SKCM-US 20 400039 400039 single base substitution C T upstream_gene_variant SKCM-US 20 409599 409599 single base substitution T C 3_prime_UTR_variant SKCM-US 20 409599 409599 single base substitution T C exon_variant SKCM-US 20 409599 409599 single base substitution T C missense_variant M268T 803T>C SKCM-US 20 409599 409599 single base substitution T C missense_variant M396T 1187T>C SKCM-US 20 409599 409599 single base substitution T C missense_variant M438T 1313T>C SKCM-US 20 409647 409647 single base substitution T C 3_prime_UTR_variant SKCM-US 20 409647 409647 single base substitution T C exon_variant SKCM-US 20 409647 409647 single base substitution T C missense_variant V284A 851T>C SKCM-US 20 409647 409647 single base substitution T C missense_variant V412A 1235T>C SKCM-US 20 409647 409647 single base substitution T C missense_variant V454A 1361T>C SKCM-US 20 411013 411013 single base substitution G A 3_prime_UTR_variant SKCM-US 20 411013 411013 single base substitution G A exon_variant SKCM-US 20 411013 411013 single base substitution G A missense_variant G321E 962G>A SKCM-US 20 411013 411013 single base substitution G A missense_variant G449E 1346G>A SKCM-US 20 411013 411013 single base substitution G A missense_variant G491E 1472G>A STAD-US 20 398429 398429 single base substitution G A 5_prime_UTR_variant STAD-US 20 398429 398429 single base substitution G A exon_variant STAD-US 20 398429 398429 single base substitution G A synonymous_variant Q104Q 312G>A STAD-US 20 398429 398429 single base substitution G A synonymous_variant Q105Q 315G>A STAD-US 20 398429 398429 single base substitution G A synonymous_variant Q137Q 411G>A STAD-US 20 398429 398429 single base substitution G A synonymous_variant Q63Q 189G>A STAD-US 20 398429 398429 single base substitution G A upstream_gene_variant STAD-US 20 402813 402813 single base substitution G A downstream_gene_variant STAD-US 20 402813 402813 single base substitution G A exon_variant STAD-US 20 402813 402813 single base substitution G A synonymous_variant E150E 450G>A STAD-US 20 402813 402813 single base substitution G A synonymous_variant E278E 834G>A STAD-US 20 402813 402813 single base substitution G A synonymous_variant E320E 960G>A STAD-US 20 407987 407987 single base substitution C A 3_prime_UTR_variant STAD-US 20 407987 407987 single base substitution C A exon_variant STAD-US 20 407987 407987 single base substitution C A missense_variant L184I 550C>A STAD-US 20 407987 407987 single base substitution C A missense_variant L312I 934C>A STAD-US 20 407987 407987 single base substitution C A missense_variant L354I 1060C>A STAD-US 20 408048 408048 single base substitution C A 3_prime_UTR_variant STAD-US 20 408048 408048 single base substitution C A exon_variant STAD-US 20 408048 408048 single base substitution C A missense_variant P204Q 611C>A STAD-US 20 408048 408048 single base substitution C A missense_variant P332Q 995C>A STAD-US 20 408048 408048 single base substitution C A missense_variant P374Q 1121C>A STAD-US 20 409650 409652 deletion of <=200bp AGA - 3_prime_UTR_variant STAD-US 20 409650 409652 deletion of <=200bp AGA - exon_variant STAD-US 20 409650 409652 deletion of <=200bp AGA - inframe_deletion QK285Q STAD-US 20 409650 409652 deletion of <=200bp AGA - inframe_deletion QK413Q STAD-US 20 409650 409652 deletion of <=200bp AGA - inframe_deletion QK455Q STAD-US 20 409672 409672 single base substitution G C 3_prime_UTR_variant STAD-US 20 409672 409672 single base substitution G C exon_variant STAD-US 20 409672 409672 single base substitution G C missense_variant W292C 876G>C STAD-US 20 409672 409672 single base substitution G C missense_variant W420C 1260G>C STAD-US 20 409672 409672 single base substitution G C missense_variant W462C 1386G>C STAD-US 20 409676 409676 single base substitution C T 3_prime_UTR_variant STAD-US 20 409676 409676 single base substitution C T exon_variant STAD-US 20 409676 409676 single base substitution C T missense_variant R294C 880C>T STAD-US 20 409676 409676 single base substitution C T missense_variant R422C 1264C>T STAD-US 20 409676 409676 single base substitution C T missense_variant R464C 1390C>T STAD-US 20 409696 409696 single base substitution C A 3_prime_UTR_variant STAD-US 20 409696 409696 single base substitution C A exon_variant STAD-US 20 409696 409696 single base substitution C A synonymous_variant T300T 900C>A STAD-US 20 409696 409696 single base substitution C A synonymous_variant T428T 1284C>A STAD-US 20 409696 409696 single base substitution C A synonymous_variant T470T 1410C>A STAD-US 20 409723 409723 single base substitution A G 3_prime_UTR_variant STAD-US 20 409723 409723 single base substitution A G exon_variant STAD-US 20 409723 409723 single base substitution A G synonymous_variant P309P 927A>G STAD-US 20 409723 409723 single base substitution A G synonymous_variant P437P 1311A>G STAD-US 20 409723 409723 single base substitution A G synonymous_variant P479P 1437A>G UCEC-US 20 390588 390588 single base substitution A G downstream_gene_variant UCEC-US 20 390588 390588 single base substitution A G exon_variant UCEC-US 20 390588 390588 single base substitution A G intron_variant UCEC-US 20 390588 390588 single base substitution A G missense_variant K20R 59A>G UCEC-US 20 390588 390588 single base substitution A G missense_variant K28R 83A>G UCEC-US 20 390588 390588 single base substitution A G missense_variant K29R 86A>G UCEC-US 20 400055 400055 single base substitution C A downstream_gene_variant UCEC-US 20 400055 400055 single base substitution C A exon_variant UCEC-US 20 400055 400055 single base substitution C A missense_variant P59Q 176C>A UCEC-US 20 400055 400055 single base substitution C A synonymous_variant P133P 399C>A UCEC-US 20 400055 400055 single base substitution C A synonymous_variant P175P 525C>A UCEC-US 20 400055 400055 single base substitution C A synonymous_variant P207P 621C>A UCEC-US 20 400055 400055 single base substitution C A upstream_gene_variant UCEC-US 20 408023 408023 single base substitution G A 3_prime_UTR_variant UCEC-US 20 408023 408023 single base substitution G A exon_variant UCEC-US 20 408023 408023 single base substitution G A missense_variant A196T 586G>A UCEC-US 20 408023 408023 single base substitution G A missense_variant A324T 970G>A UCEC-US 20 408023 408023 single base substitution G A missense_variant A366T 1096G>A UCEC-US 20 409217 409217 single base substitution C T 3_prime_UTR_variant UCEC-US 20 409217 409217 single base substitution C T exon_variant UCEC-US 20 409217 409217 single base substitution C T missense_variant T261M 782C>T UCEC-US 20 409217 409217 single base substitution C T missense_variant T389M 1166C>T UCEC-US 20 409217 409217 single base substitution C T missense_variant T431M 1292C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D7-A4YV-01 COSM4098514 c.995C>A p.P332Q Substitution - Missense 20:427404-427404 + CHC1751T COSM4802330 c.429G>T p.Q143H Substitution - Missense 20:419441-419441 + TCGA-D3-A51T-06 COSM3546524 c.1187T>C p.M396T Substitution - Missense 20:428955-428955 + CSCC-19-T COSM4513453 c.939C>T p.I313I Substitution - coding silent 20:422148-422148 + LUAD-F00162 COSM366376 c.952G>T p.E318* Substitution - Nonsense 20:422161-422161 + LS411 COSM3291901 c.1104C>A p.S368R Substitution - Missense 20:427387-427387 + HCT15 COSM3291923 c.1320G>A p.Q440Q Substitution - coding silent 20:428962-428962 + YUKAT COSM5392054 c.145G>A p.V49I Substitution - Missense 20:410003-410003 + TCGA-AP-A051-01 COSM1026837 c.525C>A p.P175P Substitution - coding silent 20:419411-419411 + TCGA-D1-A103-01 COSM1026896 c.1096G>A p.A366T Substitution - Missense 20:427379-427379 + TCGA-E5-A2PC-01 COSM1307388 c.7G>A p.E3K Substitution - Missense 20:408764-408764 + HCC54T COSM1615611 c.1369G>A p.G457R Substitution - Missense 20:430392-430392 + LUAD-F00162 COSM366377 c.826G>T p.E276* Substitution - Nonsense 20:422161-422161 + OSCC-GB_00980111 COSM4882164 c.888G>T p.V296V Substitution - coding silent 20:421002-421002 + TCGA-AP-A051-01 COSM1026838 c.399C>A p.P133P Substitution - coding silent 20:419411-419411 + TCGA-A5-A0VP-01 COSM1026903 c.1166C>T p.T389M Substitution - Missense 20:428573-428573 + CSCC-47-T COSM4560942 c.736G>A p.V246M Substitution - Missense 20:420976-420976 + TCGA-CG-5727-01 COSM4098527 c.1386G>C p.W462C Substitution - Missense 20:429028-429028 + HCC88T COSM1615594 c.97G>A p.V33M Substitution - Missense 20:417581-417581 + TCGA-A6-6650-01 COSM3693498 c.99G>T p.V33V Substitution - coding silent 20:417583-417583 + CSCC-57-T COSM4465898 c.1405C>T p.H469Y Substitution - Missense 20:429047-429047 + CRC-10T COSM5457750 c.2_3TG>GT p.M1S Substitution - Missense 20:408740-408741 + BD16T COSM5494704 c.1219G>A p.E407K Substitution - Missense 20:428500-428500 + 3N38-VS-3T38 COSM4981382 c.1147G>A p.D383N Substitution - Missense 20:428554-428554 + PCSI_0083_Pa_P_526 COSM3785396 c.358C>T p.R120W Substitution - Missense 20:417828-417828 + TCGA-BR-6706-01 COSM4098472 c.960G>A p.E320E Substitution - coding silent 20:422169-422169 + RK261_C02 COSM4943945 c.170A>G p.Q57R Substitution - Missense 20:417766-417766 + PTC-7C COSM4134554 c.1151T>G p.V384G Substitution - Missense 20:428558-428558 + CSCC-29-T COSM4510815 c.723C>T p.P241P Substitution - coding silent 20:420963-420963 + CHC1751T COSM4802329 c.555G>T p.Q185H Substitution - Missense 20:419441-419441 + 587388 COSM1223291 c.274C>T p.R92C Substitution - Missense 20:417870-417870 + CHC1751T COSM4802330 c.429G>T p.Q143H Substitution - Missense 20:419441-419441 + TCGA-A6-6650-01 COSM3693497 c.225G>T p.V75V Substitution - coding silent 20:417583-417583 + OSCC-GB_00700111 COSM4890596 c.1496G>T p.G499V Substitution - Missense 20:430393-430393 + 587342 COSM1223292 c.1454G>A p.G485D Substitution - Missense 20:430351-430351 + TCGA-BR-A4CS-01 COSM4098512 c.934C>A p.L312I Substitution - Missense 20:427343-427343 + PTC-14C COSM4134552 c.879G>C p.K293N Substitution - Missense 20:422214-422214 + TCGA-BR-A4CS-01 COSM4098511 c.1060C>A p.L354I Substitution - Missense 20:427343-427343 + PTC-14C COSM4134550 c.878A>G p.K293R Substitution - Missense 20:422213-422213 + HCC54 COSM1615611 c.1369G>A p.G457R Substitution - Missense 20:430392-430392 + T207 COSM4720601 c.846_847insA p.F283fs*3 Insertion - Frameshift 20:422181-422182 + ESO-K08 COSM1263893 c.87C>G p.I29M Substitution - Missense 20:417571-417571 + BD114T COSM5504624 c.544G>C p.G182R Substitution - Missense 20:419430-419430 + TCGA-D9-A1JX-06 COSM3546526 c.1235T>C p.V412A Substitution - Missense 20:429003-429003 + 587376 COSM1223295 c.820A>T p.S274C Substitution - Missense 20:422155-422155 + TCGA-19-1790-01 COSM3405086 c.1363C>T p.Q455* Substitution - Nonsense 20:429005-429005 + RK261_C02 COSM4943944 c.296A>G p.Q99R Substitution - Missense 20:417766-417766 + PCSI_0083_Pa_X COSM3785396 c.358C>T p.R120W Substitution - Missense 20:417828-417828 + MedB-1 COSM5621676 c.980A>G p.D327G Substitution - Missense 20:422189-422189 + TCGA-19-1790-01 COSM3405087 c.1237C>T p.Q413* Substitution - Nonsense 20:429005-429005 + T3021 COSM4720597 c.200G>T p.R67L Substitution - Missense 20:417796-417796 + PTC-14C COSM4134551 c.1005G>C p.K335N Substitution - Missense 20:422214-422214 + TCGA-BR-8487-01 COSM3291931 c.1390C>T p.R464C Substitution - Missense 20:429032-429032 + Gp2D COSM4627812 c.64G>A p.A22T Substitution - Missense 20:417548-417548 + T207 COSM4720600 c.972_973insA p.F325fs*3 Insertion - Frameshift 20:422181-422182 + HCA7 COSM4630585 c.103G>A p.A35T Substitution - Missense 20:409961-409961 + TARGET-20-PANGTF-09A-02D COSM5487350 c.531C>T p.V177V Substitution - coding silent 20:419417-419417 + PCSI_0083_Pa_X COSM3785397 c.232C>T p.R78W Substitution - Missense 20:417828-417828 + OSCC-GB_01070111 COSM4889370 c.1425C>T p.V475V Substitution - coding silent 20:429067-429067 + TCGA-D7-A4YV-01 COSM4098513 c.1121C>A p.P374Q Substitution - Missense 20:427404-427404 + SS6003323 COSM3414160 c.1091G>A p.R364H Substitution - Missense 20:427374-427374 + 3N38-VS-3T38 COSM4981381 c.1273G>A p.D425N Substitution - Missense 20:428554-428554 + TCGA-CG-5721-01 COSM4098531 c.1437A>G p.P479P Substitution - coding silent 20:429079-429079 + BD16T COSM5494705 c.1093G>A p.E365K Substitution - Missense 20:428500-428500 + CHC1751T COSM4802329 c.555G>T p.Q185H Substitution - Missense 20:419441-419441 + TCGA-A6-6782-01 COSM1411496 c.317G>A p.R106Q Substitution - Missense 20:417787-417787 + TCGA-A5-A0VP-01 COSM1026902 c.1292C>T p.T431M Substitution - Missense 20:428573-428573 + HN_62624 COSM125779 c.163A>T p.I55F Substitution - Missense 20:410021-410021 + BD177T COSM5517522 c.1215C>G p.I405M Substitution - Missense 20:428496-428496 + TCGA-FS-A1Z3-06 COSM3546580 c.1472G>A p.G491E Substitution - Missense 20:430369-430369 + OSCC-GB_00700111 COSM4890597 c.1370G>T p.G457V Substitution - Missense 20:430393-430393 + TCGA-AG-3896-01 COSM288907 c.33G>A p.M11I Substitution - Missense 20:409891-409891 + 7285 COSM246969 c.59C>T p.A20V Substitution - Missense 20:409917-409917 + HCC54T COSM1615610 c.1495G>A p.G499R Substitution - Missense 20:430392-430392 + S31_post COSM5574923 c.1526G>A p.C509Y Substitution - Missense 20:430423-430423 + PDA_032 COSM4999626 c.523C>A p.P175T Substitution - Missense 20:419409-419409 + HCC54 COSM1615610 c.1495G>A p.G499R Substitution - Missense 20:430392-430392 + TCGA-BR-4368-01 COSM4098413 c.189G>A p.Q63Q Substitution - coding silent 20:417785-417785 + 18195 COSM1307388 c.7G>A p.E3K Substitution - Missense 20:408764-408764 + CSCC-57-T COSM4465899 c.1279C>T p.H427Y Substitution - Missense 20:429047-429047 + Gp2D COSM4627811 c.190G>A p.A64T Substitution - Missense 20:417548-417548 + RMS2083 COSM5880904 c.1222C>A p.Q408K Substitution - Missense 20:428503-428503 + 18195 COSM1307389 c.26G>A p.R9Q Substitution - Missense 20:408764-408764 + ESCC_169 COSM3291481 c.448C>T p.R150W Substitution - Missense 20:417918-417918 + TCGA-CD-A4MG-01 COSM4098530 c.1284C>A p.T428T Substitution - coding silent 20:429052-429052 + OSCC-GB_01070111 COSM4889371 c.1299C>T p.V433V Substitution - coding silent 20:429067-429067 + PCSI_0083_Pa_P_526 COSM3785397 c.232C>T p.R78W Substitution - Missense 20:417828-417828 + HCC88 COSM1615593 c.223G>A p.V75M Substitution - Missense 20:417581-417581 + TCGA-E5-A2PC-01 COSM1307389 c.26G>A p.R9Q Substitution - Missense 20:408764-408764 + CSCC-47-T COSM4560941 c.862G>A p.V288M Substitution - Missense 20:420976-420976 + BD114T COSM5504625 c.418G>C p.G140R Substitution - Missense 20:419430-419430 + HCC88T COSM1615593 c.223G>A p.V75M Substitution - Missense 20:417581-417581 + HCT15 COSM3291924 c.1194G>A p.Q398Q Substitution - coding silent 20:428962-428962 + 587388 COSM1223290 c.400C>T p.R134C Substitution - Missense 20:417870-417870 + OSCC-GB_01070111 COSM4889383 c.873G>A p.S291S Substitution - coding silent 20:422208-422208 + T3021 COSM4720599 c.588G>T p.A196A Substitution - coding silent 20:419689-419689 + TCGA-B5-A11H-01 COSM1026777 c.86A>G p.K29R Substitution - Missense 20:409944-409944 + TCGA-BR-4368-01 COSM4098412 c.315G>A p.Q105Q Substitution - coding silent 20:417785-417785 + CSCC-29-T COSM4510814 c.849C>T p.P283P Substitution - coding silent 20:420963-420963 + LS411 COSM3291902 c.978C>A p.S326R Substitution - Missense 20:427387-427387 + TCGA-BP-4762-01 COSM3363253 c.1125C>A p.D375E Substitution - Missense 20:428532-428532 + 587342 COSM1223293 c.1328G>A p.G443D Substitution - Missense 20:430351-430351 + PTC-7C COSM4134553 c.1277T>G p.V426G Substitution - Missense 20:428558-428558 + T3021 COSM4720598 c.714G>T p.A238A Substitution - coding silent 20:419689-419689 + HCC88 COSM1615594 c.97G>A p.V33M Substitution - Missense 20:417581-417581 + TCGA-EE-A3JD-06 COSM4397333 c.383C>T p.P128L Substitution - Missense 20:419395-419395 + CSCC-19-T COSM4513454 c.813C>T p.I271I Substitution - coding silent 20:422148-422148 + PR-04-903 COSM246969 c.59C>T p.A20V Substitution - Missense 20:409917-409917 + TCGA-FS-A1Z3-06 COSM3546581 c.1346G>A p.G449E Substitution - Missense 20:430369-430369 + ESO-0079 COSM1263891 c.221C>T p.S74F Substitution - Missense 20:417817-417817 + TCGA-D9-A1JX-06 COSM3546525 c.1361T>C p.V454A Substitution - Missense 20:429003-429003 + TCGA-GC-A3YS-01 COSM3799539 c.162C>T p.D54D Substitution - coding silent 20:410020-410020 + TCGA-A6-6782-01 COSM1411497 c.191G>A p.R64Q Substitution - Missense 20:417787-417787 + TCGA-CJ-4641-01 COSM1136793 c.931G>A p.G311S Substitution - Missense 20:422140-422140 + 587376 COSM1223294 c.946A>T p.S316C Substitution - Missense 20:422155-422155 + TCGA-CD-A4MG-01 COSM4098529 c.1410C>A p.T470T Substitution - coding silent 20:429052-429052 + TCGA-BR-8487-01 COSM3291932 c.1264C>T p.R422C Substitution - Missense 20:429032-429032 + TCGA-74-6577-01 COSM3405073 c.64G>A p.G22R Substitution - Missense 20:409922-409922 + TCGA-CJ-4641-01 COSM1136794 c.805G>A p.G269S Substitution - Missense 20:422140-422140 + TCGA-66-2777-01 COSM723671 c.200G>A p.R67Q Substitution - Missense 20:417796-417796 + PTC-14C COSM4134549 c.1004A>G p.K335R Substitution - Missense 20:422213-422213 + OSCC-GB_00980111 COSM4882165 c.762G>T p.V254V Substitution - coding silent 20:421002-421002 + TCGA-CG-5727-01 COSM4098528 c.1260G>C p.W420C Substitution - Missense 20:429028-429028 + TARGET-20-PANGTF-09A-02D COSM5487351 c.405C>T p.V135V Substitution - coding silent 20:419417-419417 + TCGA-BR-6706-01 COSM4098473 c.834G>A p.E278E Substitution - coding silent 20:422169-422169 + PDA_032 COSM4999627 c.397C>A p.P133T Substitution - Missense 20:419409-419409 + TCGA-D1-A103-01 COSM1026897 c.970G>A p.A324T Substitution - Missense 20:427379-427379 + TCGA-18-3410-01 COSM723636 c.1227G>A p.Q409Q Substitution - coding silent 20:428995-428995 + ESO-K08 COSM1263892 c.213C>G p.I71M Substitution - Missense 20:417571-417571 + T3021 COSM4720596 c.326G>T p.R109L Substitution - Missense 20:417796-417796 + SS6003323 COSM3414161 c.965G>A p.R322H Substitution - Missense 20:427374-427374 + ESCC_169 COSM3291482 c.322C>T p.R108W Substitution - Missense 20:417918-417918 + STC252 COSM5057304 c.37C>A p.L13M Substitution - Missense 20:409895-409895 + S31_post COSM5574924 c.1400G>A p.C467Y Substitution - Missense 20:430423-430423 + TCGA-D3-A51T-06 COSM3546523 c.1313T>C p.M438T Substitution - Missense 20:428955-428955 + MedB-1 COSM5621677 c.854A>G p.D285G Substitution - Missense 20:422189-422189 + TCGA-BP-4762-01 COSM3363252 c.1251C>A p.D417E Substitution - Missense 20:428532-428532 + OSCC-GB_01070111 COSM4889382 c.999G>A p.S333S Substitution - coding silent 20:422208-422208 + T3021 COSM4720595 c.151C>A p.P51T Substitution - Missense 20:410009-410009 + S31_pre COSM5574923 c.1526G>A p.C509Y Substitution - Missense 20:430423-430423 + TCGA-EE-A3JD-06 COSM4397332 c.509C>T p.P170L Substitution - Missense 20:419395-419395 + S31_pre COSM5574924 c.1400G>A p.C467Y Substitution - Missense 20:430423-430423 + BD177T COSM5517523 c.1089C>G p.I363M Substitution - Missense 20:428496-428496 + ESO-0079 COSM1263890 c.347C>T p.S116F Substitution - Missense 20:417817-417817 + TCGA-CG-5721-01 COSM4098532 c.1311A>G p.P437P Substitution - coding silent 20:429079-429079 + RMS2083 COSM5880905 c.1096C>A p.Q366K Substitution - Missense 20:428503-428503 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.247280 20p13 610924 1515519|dbSNP|BC000983|C/T|non-coding||1985|Candidate; 1515519|dbSNP|BC015219|C/T|non-coding||2309|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGA - InFrameDeletion p.K457delK c.1369_1371delAAG 20 409650 STAD AGC - InFrameDeletion p.Q258delQ c.772_774delCAG 20 401519 BLCA A G IntronicSNV . c.167+532A>G 20 391201 BRCA A G Missense p.K29R c.86A>G 20 390588 UCEC A - IntronicDeletion . c.167+717delA 20 391385 CM A T Missense p.I55F c.163A>T 20 390665 HNSC C A Missense p.D417E c.1251C>A 20 409176 RCCC - C Frameshift p.C493Lfs*21 c.1476dupC 20 411017 RCCC C G Missense p.I71M c.213C>G 20 398215 ESCA C G Missense p.P140R c.419C>G 20 398533 HNSC C G Synonymous p.L84L c.252C>G 20 398254 HNSC C T Missense p.A20V c.59C>T 20 390561 NSCLC C T Missense p.P170L c.509C>T 20 400039 CM C T Missense p.S116F c.347C>T 20 398461 ESCA C T Missense p.T16I c.47C>T 20 390549 CM C T Missense p.T431M c.1292C>T 20 409217 UCEC C T Nonsense p.Q455* c.1363C>T 20 409649 GBM C T Synonymous p.N424N c.1272C>T 20 409197 STAD G A IntronicSNV . c.1308+11G>A 20 409244 DLBCL G A IntronicSNV . c.167+444G>A 20 391113 BRCA G A Missense p.E3K c.7G>A 20 389408 BLCA G A Missense p.G22R c.64G>A 20 390566 GBM G A Missense p.G311S c.931G>A 20 402784 RCCC G A Missense p.G491E c.1472G>A 20 411013 CM G A Missense p.M11I c.33G>A 20 390535 COREAD G A Missense p.R109Q c.326G>A 20 398440 LUSC G A Synonymous p.E320E c.960G>A 20 402813 STAD G A Synonymous p.Q105Q c.315G>A 20 398429 STAD G A Synonymous p.Q451Q c.1353G>A 20 409639 LUSC G C Missense p.W462C c.1386G>C 20 409672 STAD G T Nonsense p.E320* c.958G>T 20 402811 HNSC T C Missense p.V454A c.1361T>C 20 409647 CM T C SpliceDonorSNV . c.1209+2T>C 20 408138 HNSC