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 23708867 23708867 + Nonsense_Mutation SNP C C A TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr8:23708867C>A c.439G>T c.(439-441)Gag>Tag p.E147* BLCA 8 23709009 23709009 + Silent SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr8:23709009G>A c.297C>T c.(295-297)atC>atT p.I99I BLCA 8 23709043 23709043 + Splice_Site SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr8:23709043C>A c.263G>T c.(262-264)gGa>gTa p.G88V BLCA 8 23711974 23711974 + Silent SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr8:23711974C>T c.63G>A c.(61-63)gcG>gcA p.A21A BRCA 8 23708938 23708938 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr8:23708938T>C c.368A>G c.(367-369)gAg>gGg p.E123G CESC 8 23702481 23702481 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr8:23702481C>T c.546G>A c.(544-546)ctG>ctA p.L182L COAD 8 23702424 23702424 + Missense_Mutation SNP G G T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr8:23702424G>T c.603C>A c.(601-603)caC>caA p.H201Q COAD 8 23708861 23708861 + Missense_Mutation SNP C C T TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr8:23708861C>T c.445G>A c.(445-447)Gtc>Atc p.V149I COAD 8 23709026 23709026 + Missense_Mutation SNP C C G TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr8:23709026C>G c.280G>C c.(280-282)Gag>Cag p.E94Q COAD 8 23711962 23711962 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:23711962G>A c.75C>T c.(73-75)gaC>gaT p.D25D COADREAD 8 23702424 23702424 + Missense_Mutation SNP G G T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr8:23702424G>T c.603C>A c.(601-603)caC>caA p.H201Q COADREAD 8 23702526 23702526 + Silent SNP C C T TCGA-AG-3612-01A-01W-0833-10 TCGA-AG-3612-10A-01W-0833-10 g.chr8:23702526C>T c.501G>A c.(499-501)ctG>ctA p.L167L COADREAD 8 23708861 23708861 + Missense_Mutation SNP C C T TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr8:23708861C>T c.445G>A c.(445-447)Gtc>Atc p.V149I COADREAD 8 23709026 23709026 + Missense_Mutation SNP C C G TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr8:23709026C>G c.280G>C c.(280-282)Gag>Cag p.E94Q COADREAD 8 23711962 23711962 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:23711962G>A c.75C>T c.(73-75)gaC>gaT p.D25D ESCA 8 23702448 23702448 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr8:23702448G>C c.579C>G c.(577-579)ctC>ctG p.L193L GBM 8 23702306 23702306 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 g.chr8:23702306G>A c.721C>T c.(721-723)Cgc>Tgc p.R241C GBM 8 23709003 23709003 + Silent SNP G G A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chr8:23709003G>A c.303C>T c.(301-303)aaC>aaT p.N101N GBMLGG 8 23702306 23702306 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 g.chr8:23702306G>A c.721C>T c.(721-723)Cgc>Tgc p.R241C GBMLGG 8 23702537 23702537 + Missense_Mutation SNP C C A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 g.chr8:23702537C>A c.490G>T c.(490-492)Gtc>Ttc p.V164F GBMLGG 8 23709003 23709003 + Silent SNP G G A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chr8:23709003G>A c.303C>T c.(301-303)aaC>aaT p.N101N HNSC 8 23702400 23702400 + Silent SNP A A C TCGA-CN-6994-01A-11D-1912-08 TCGA-CN-6994-10A-01D-1912-08 g.chr8:23702400A>C c.627T>G c.(625-627)gcT>gcG p.A209A HNSC 8 23702425 23702425 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr8:23702425T>G c.602A>C c.(601-603)cAc>cCc p.H201P HNSC 8 23702493 23702493 + Frame_Shift_Del DEL G G - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr8:23702493delG c.534delC c.(532-534)atcfs p.I178fs HNSC 8 23709899 23709899 + Splice_Site SNP T T A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr8:23709899T>A c.e2-2 KIPAN 8 23702289 23702289 + Silent SNP A A G TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr8:23702289A>G c.738T>C c.(736-738)agT>agC p.S246S KIPAN 8 23702339 23702339 + Silent SNP G G T TCGA-B0-4839-01A-01D-1373-10 TCGA-B0-4839-11A-01D-1373-10 g.chr8:23702339G>T c.688C>A c.(688-690)Cga>Aga p.R230R KIRC 8 23702339 23702339 + Silent SNP G G T TCGA-B0-4839-01A-01D-1373-10 TCGA-B0-4839-11A-01D-1373-10 g.chr8:23702339G>T c.688C>A c.(688-690)Cga>Aga p.R230R KIRP 8 23702289 23702289 + Silent SNP A A G TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr8:23702289A>G c.738T>C c.(736-738)agT>agC p.S246S LGG 8 23702537 23702537 + Missense_Mutation SNP C C A TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 g.chr8:23702537C>A c.490G>T c.(490-492)Gtc>Ttc p.V164F LIHC 8 23712004 23712004 + Silent SNP C C T TCGA-CC-5262-01A-01D-A12Z-10 TCGA-CC-5262-10B-01D-A12Z-10 g.chr8:23712004C>T c.33G>A c.(31-33)ctG>ctA p.L11L LUAD 8 23702417 23702417 + Missense_Mutation SNP G G T TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr8:23702417G>T c.610C>A c.(610-612)Caa>Aaa p.Q204K LUAD 8 23708865 23708865 + Missense_Mutation SNP C C G TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr8:23708865C>G c.441G>C c.(439-441)gaG>gaC p.E147D LUAD 8 23708876 23708876 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr8:23708876C>T c.430G>A c.(430-432)Gcc>Acc p.A144T LUAD 8 23709044 23709044 + Splice_Site SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr8:23709044C>T c.262G>A c.(262-264)Gga>Aga p.G88R LUAD 8 23711941 23711941 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr8:23711941G>T c.96C>A c.(94-96)tcC>tcA p.S32S LUSC 8 23702537 23702537 + Missense_Mutation SNP C C G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr8:23702537C>G c.490G>C c.(490-492)Gtc>Ctc p.V164L LUSC 8 23708998 23708998 + Missense_Mutation SNP A A T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr8:23708998A>T c.308T>A c.(307-309)gTc>gAc p.V103D LUSC 8 23708999 23708999 + Missense_Mutation SNP C C A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr8:23708999C>A c.307G>T c.(307-309)Gtc>Ttc p.V103F LUSC 8 23709836 23709836 + Silent SNP C C A TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr8:23709836C>A c.180G>T c.(178-180)ctG>ctT p.L60L OV 8 23702428 23702428 + Missense_Mutation SNP T T C TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 g.chr8:23702428T>C c.599A>G c.(598-600)gAc>gGc p.D200G PAAD 8 23709021 23709021 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:23709021G>T c.285C>A c.(283-285)agC>agA p.S95R READ 8 23702526 23702526 + Silent SNP C C T TCGA-AG-3612-01A-01W-0833-10 TCGA-AG-3612-10A-01W-0833-10 g.chr8:23702526C>T c.501G>A c.(499-501)ctG>ctA p.L167L SARC 8 23702549 23702549 + Missense_Mutation SNP A A T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 g.chr8:23702549A>T c.478T>A c.(478-480)Tat>Aat p.Y160N SKCM 8 23702327 23702327 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr8:23702327C>T c.700G>A c.(700-702)Gac>Aac p.D234N SKCM 8 23702352 23702352 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr8:23702352G>A c.675C>T c.(673-675)ctC>ctT p.L225L SKCM 8 23702404 23702404 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:23702404C>T c.623G>A c.(622-624)cGa>cAa p.R208Q SKCM 8 23702404 23702404 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr8:23702404C>T c.623G>A c.(622-624)cGa>cAa p.R208Q SKCM 8 23702439 23702439 + Silent SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr8:23702439G>A c.588C>T c.(586-588)atC>atT p.I196I SKCM 8 23702457 23702457 + Missense_Mutation SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr8:23702457C>T c.570G>A c.(568-570)atG>atA p.M190I SKCM 8 23708886 23708886 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr8:23708886C>T c.420G>A c.(418-420)cgG>cgA p.R140R SKCM 8 23708887 23708887 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr8:23708887C>T c.419G>A c.(418-420)cGg>cAg p.R140Q SKCM 8 23708982 23708982 + Silent SNP G G A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr8:23708982G>A c.324C>T c.(322-324)ttC>ttT p.F108F SKCM 8 23709033 23709033 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 g.chr8:23709033G>A c.273C>T c.(271-273)ttC>ttT p.F91F SKCM 8 23709810 23709810 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr8:23709810C>T c.206G>A c.(205-207)gGg>gAg p.G69E SKCM 8 23709814 23709814 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr8:23709814C>T c.202G>A c.(202-204)Gat>Aat p.D68N SKCM 8 23709835 23709835 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr8:23709835C>T c.181G>A c.(181-183)Gaa>Aaa p.E61K SKCM 8 23711947 23711947 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr8:23711947C>T c.90G>A c.(88-90)agG>agA p.R30R

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 23709043 23709043 single base substitution C A missense_variant G19V 56G>T BLCA-US 8 23709043 23709043 single base substitution C A missense_variant G88V 263G>T BRCA-EU 8 23695352 23695352 single base substitution C G downstream_gene_variant BRCA-EU 8 23695396 23695396 single base substitution A G downstream_gene_variant BRCA-EU 8 23696781 23696781 single base substitution G C downstream_gene_variant BRCA-EU 8 23699429 23699429 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 8 23699429 23699429 deletion of <=200bp G - downstream_gene_variant BRCA-EU 8 23699543 23699543 single base substitution T G 3_prime_UTR_variant BRCA-EU 8 23699543 23699543 single base substitution T G downstream_gene_variant BRCA-EU 8 23700664 23700664 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 23700664 23700664 single base substitution G A downstream_gene_variant BRCA-EU 8 23703185 23703185 single base substitution T G intron_variant BRCA-EU 8 23704183 23704183 single base substitution A G intron_variant BRCA-EU 8 23705719 23705719 single base substitution C T intron_variant BRCA-EU 8 23705737 23705737 single base substitution G A intron_variant BRCA-EU 8 23706460 23706460 single base substitution C G intron_variant BRCA-EU 8 23706706 23706706 single base substitution C G intron_variant BRCA-EU 8 23708641 23708641 deletion of <=200bp A - intron_variant BRCA-EU 8 23708821 23708821 single base substitution C T intron_variant BRCA-EU 8 23709004 23709004 single base substitution T C missense_variant N101S 302A>G BRCA-EU 8 23709004 23709004 single base substitution T C missense_variant N32S 95A>G BRCA-EU 8 23710317 23710317 single base substitution A T intron_variant BRCA-EU 8 23710585 23710585 single base substitution C T intron_variant BRCA-EU 8 23711973 23711973 single base substitution C T missense_variant E22K 64G>A BRCA-EU 8 23711973 23711973 single base substitution C T upstream_gene_variant BRCA-EU 8 23712639 23712639 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 23714513 23714553 deletion of <=200bp TTATTCATCATCTAAGGCAGTGCCATTTGTTTCTCTTGGGC - upstream_gene_variant BRCA-EU 8 23716290 23716290 single base substitution G T upstream_gene_variant BRCA-FR 8 23696121 23696121 single base substitution G A downstream_gene_variant BRCA-FR 8 23706706 23706706 single base substitution C G intron_variant BRCA-US 8 23708938 23708938 single base substitution T C missense_variant E123G 368A>G BRCA-US 8 23708938 23708938 single base substitution T C missense_variant E54G 161A>G BTCA-JP 8 23702587 23702587 single base substitution C T intron_variant BTCA-JP 8 23709002 23709002 single base substitution C T missense_variant G102R 304G>A BTCA-JP 8 23709002 23709002 single base substitution C T missense_variant G33R 97G>A BTCA-JP 8 23712078 23712078 single base substitution T C 5_prime_UTR_variant BTCA-JP 8 23712078 23712078 single base substitution T C upstream_gene_variant BTCA-JP 8 23712168 23712168 insertion of <=200bp - T 5_prime_UTR_variant BTCA-JP 8 23712168 23712168 insertion of <=200bp - T upstream_gene_variant BTCA-JP 8 23712174 23712174 single base substitution T G 5_prime_UTR_variant BTCA-JP 8 23712174 23712174 single base substitution T G upstream_gene_variant CESC-US 8 23702481 23702481 single base substitution C T synonymous_variant L113L 339G>A CESC-US 8 23702481 23702481 single base substitution C T synonymous_variant L182L 546G>A COAD-US 8 23708861 23708861 single base substitution C T missense_variant V149I 445G>A COAD-US 8 23708861 23708861 single base substitution C T missense_variant V80I 238G>A COCA-CN 8 23694487 23694487 single base substitution T G downstream_gene_variant COCA-CN 8 23702471 23702471 single base substitution T C missense_variant I117V 349A>G COCA-CN 8 23702471 23702471 single base substitution T C missense_variant I186V 556A>G COCA-CN 8 23702533 23702533 single base substitution C T missense_variant R165Q 494G>A COCA-CN 8 23702533 23702533 single base substitution C T missense_variant R96Q 287G>A COCA-CN 8 23708870 23708870 single base substitution T C missense_variant T146A 436A>G COCA-CN 8 23708870 23708870 single base substitution T C missense_variant T77A 229A>G COCA-CN 8 23708920 23708920 single base substitution T C missense_variant Y129C 386A>G COCA-CN 8 23708920 23708920 single base substitution T C missense_variant Y60C 179A>G COCA-CN 8 23709913 23709913 single base substitution C A intron_variant COCA-CN 8 23712038 23712038 single base substitution C T 5_prime_UTR_variant COCA-CN 8 23712038 23712038 single base substitution C T upstream_gene_variant COCA-CN 8 23712242 23712242 single base substitution T C 5_prime_UTR_variant COCA-CN 8 23712242 23712242 single base substitution T C upstream_gene_variant COCA-CN 8 23712356 23712356 single base substitution G T upstream_gene_variant ESAD-UK 8 23695007 23695007 single base substitution A C downstream_gene_variant ESAD-UK 8 23695805 23695805 single base substitution T G downstream_gene_variant ESAD-UK 8 23697424 23697424 single base substitution G A downstream_gene_variant ESAD-UK 8 23698379 23698379 single base substitution T G downstream_gene_variant ESAD-UK 8 23699018 23699018 single base substitution C T downstream_gene_variant ESAD-UK 8 23699293 23699293 single base substitution T G downstream_gene_variant ESAD-UK 8 23699509 23699509 single base substitution T C 3_prime_UTR_variant ESAD-UK 8 23699509 23699509 single base substitution T C downstream_gene_variant ESAD-UK 8 23700371 23700371 single base substitution T G 3_prime_UTR_variant ESAD-UK 8 23700371 23700371 single base substitution T G downstream_gene_variant ESAD-UK 8 23700585 23700585 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 23700585 23700585 single base substitution C T downstream_gene_variant ESAD-UK 8 23701189 23701189 single base substitution A G 3_prime_UTR_variant ESAD-UK 8 23701189 23701189 single base substitution A G downstream_gene_variant ESAD-UK 8 23701904 23701904 single base substitution T G 3_prime_UTR_variant ESAD-UK 8 23703116 23703116 single base substitution T G intron_variant ESAD-UK 8 23703185 23703185 single base substitution T A intron_variant ESAD-UK 8 23703228 23703228 single base substitution C T intron_variant ESAD-UK 8 23703359 23703359 single base substitution T G intron_variant ESAD-UK 8 23703394 23703394 single base substitution T C intron_variant ESAD-UK 8 23703721 23703721 single base substitution C T intron_variant ESAD-UK 8 23706647 23706647 single base substitution T C intron_variant ESAD-UK 8 23707193 23707193 single base substitution T C intron_variant ESAD-UK 8 23708519 23708519 single base substitution G C intron_variant ESAD-UK 8 23708520 23708520 single base substitution A T intron_variant ESAD-UK 8 23710165 23710165 single base substitution T C intron_variant ESAD-UK 8 23710549 23710549 insertion of <=200bp - AAAG intron_variant ESAD-UK 8 23711139 23711139 single base substitution A C intron_variant ESAD-UK 8 23711139 23711139 single base substitution A T intron_variant ESAD-UK 8 23713881 23713881 single base substitution G C upstream_gene_variant ESAD-UK 8 23715530 23715530 insertion of <=200bp - A upstream_gene_variant ESAD-UK 8 23715631 23715631 single base substitution A G upstream_gene_variant ESAD-UK 8 23715978 23715978 single base substitution G T upstream_gene_variant ESAD-UK 8 23717183 23717183 single base substitution A G upstream_gene_variant ESAD-UK 8 23717246 23717246 single base substitution A T upstream_gene_variant ESCA-CN 8 23709763 23709763 single base substitution C G missense_variant D16H 46G>C ESCA-CN 8 23709763 23709763 single base substitution C G missense_variant D85H 253G>C ESCA-CN 8 23709854 23709854 single base substitution G A 5_prime_UTR_variant ESCA-CN 8 23709854 23709854 single base substitution G A synonymous_variant C54C 162C>T GBM-US 8 23709003 23709003 single base substitution G A synonymous_variant N101N 303C>T GBM-US 8 23709003 23709003 single base substitution G A synonymous_variant N32N 96C>T KIRC-US 8 23702339 23702339 single base substitution G T synonymous_variant R161R 481C>A KIRC-US 8 23702339 23702339 single base substitution G T synonymous_variant R230R 688C>A LICA-CN 8 23702497 23702497 single base substitution G T missense_variant T108K 323C>A LICA-CN 8 23702497 23702497 single base substitution G T missense_variant T177K 530C>A LICA-FR 8 23702483 23702483 single base substitution G A synonymous_variant L113L 337C>T LICA-FR 8 23702483 23702483 single base substitution G A synonymous_variant L182L 544C>T LICA-FR 8 23708864 23708864 single base substitution C T missense_variant V148I 442G>A LICA-FR 8 23708864 23708864 single base substitution C T missense_variant V79I 235G>A LICA-FR 8 23709089 23709089 single base substitution A G intron_variant LICA-FR 8 23715799 23715799 single base substitution G T upstream_gene_variant LIHC-US 8 23709890 23709890 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 8 23709890 23709890 single base substitution C A synonymous_variant V42V 126G>T LIHC-US 8 23712004 23712004 single base substitution C T synonymous_variant L11L 33G>A LIHC-US 8 23712004 23712004 single base substitution C T upstream_gene_variant LINC-JP 8 23709203 23709203 deletion of <=200bp A - intron_variant LINC-JP 8 23712067 23712067 deletion of <=200bp T - 5_prime_UTR_variant LINC-JP 8 23712067 23712067 deletion of <=200bp T - upstream_gene_variant LIRI-JP 8 23694648 23694648 single base substitution C A downstream_gene_variant LIRI-JP 8 23695860 23695860 single base substitution A T downstream_gene_variant LIRI-JP 8 23697094 23697094 single base substitution A T downstream_gene_variant LIRI-JP 8 23697215 23697215 single base substitution C A downstream_gene_variant LIRI-JP 8 23697789 23697789 single base substitution G A downstream_gene_variant LIRI-JP 8 23700958 23700958 single base substitution C A 3_prime_UTR_variant LIRI-JP 8 23700958 23700958 single base substitution C A downstream_gene_variant LIRI-JP 8 23701097 23701097 single base substitution C T 3_prime_UTR_variant LIRI-JP 8 23701097 23701097 single base substitution C T downstream_gene_variant LIRI-JP 8 23704001 23704001 single base substitution G A intron_variant LIRI-JP 8 23704253 23704253 single base substitution A G intron_variant LIRI-JP 8 23704770 23704770 single base substitution C T intron_variant LIRI-JP 8 23704779 23704779 single base substitution A G intron_variant LIRI-JP 8 23705318 23705318 single base substitution A G intron_variant LIRI-JP 8 23706971 23706971 single base substitution G T intron_variant LIRI-JP 8 23707135 23707135 single base substitution C A intron_variant LIRI-JP 8 23708985 23708985 single base substitution G A synonymous_variant V107V 321C>T LIRI-JP 8 23708985 23708985 single base substitution G A synonymous_variant V38V 114C>T LIRI-JP 8 23711552 23711552 single base substitution G A intron_variant LIRI-JP 8 23712763 23712763 single base substitution G A upstream_gene_variant LIRI-JP 8 23714427 23714427 single base substitution T C upstream_gene_variant LIRI-JP 8 23715402 23715402 single base substitution A T upstream_gene_variant LIRI-JP 8 23715458 23715458 single base substitution A T upstream_gene_variant LIRI-JP 8 23716681 23716681 single base substitution C T upstream_gene_variant LUSC-KR 8 23695536 23695536 single base substitution A C downstream_gene_variant LUSC-KR 8 23698037 23698037 single base substitution C G downstream_gene_variant LUSC-KR 8 23698971 23698971 single base substitution T C downstream_gene_variant LUSC-KR 8 23700019 23700019 single base substitution G A 3_prime_UTR_variant LUSC-KR 8 23700019 23700019 single base substitution G A downstream_gene_variant LUSC-KR 8 23701630 23701630 single base substitution G A 3_prime_UTR_variant LUSC-KR 8 23702036 23702036 single base substitution A T 3_prime_UTR_variant LUSC-KR 8 23702038 23702038 single base substitution A T 3_prime_UTR_variant LUSC-KR 8 23704478 23704478 single base substitution G A intron_variant LUSC-KR 8 23704760 23704760 single base substitution T C intron_variant LUSC-KR 8 23705088 23705088 single base substitution A T intron_variant LUSC-KR 8 23706706 23706706 single base substitution C T intron_variant LUSC-KR 8 23712666 23712666 single base substitution A T upstream_gene_variant LUSC-KR 8 23715507 23715507 single base substitution A T upstream_gene_variant LUSC-KR 8 23715690 23715690 single base substitution C A upstream_gene_variant LUSC-US 8 23702537 23702537 single base substitution C G missense_variant V164L 490G>C LUSC-US 8 23702537 23702537 single base substitution C G missense_variant V95L 283G>C LUSC-US 8 23708998 23708998 single base substitution A T missense_variant V103D 308T>A LUSC-US 8 23708998 23708998 single base substitution A T missense_variant V34D 101T>A LUSC-US 8 23708999 23708999 single base substitution C A missense_variant V103F 307G>T LUSC-US 8 23708999 23708999 single base substitution C A missense_variant V34F 100G>T LUSC-US 8 23709836 23709836 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 8 23709836 23709836 single base substitution C A synonymous_variant L60L 180G>T MALY-DE 8 23697936 23697936 single base substitution A C downstream_gene_variant MALY-DE 8 23703741 23703741 single base substitution T G intron_variant MALY-DE 8 23704696 23704696 single base substitution T C intron_variant MALY-DE 8 23704697 23704697 single base substitution G A intron_variant MALY-DE 8 23705579 23705579 single base substitution T G intron_variant MALY-DE 8 23706822 23706822 single base substitution G A intron_variant MALY-DE 8 23709570 23709571 deletion of <=200bp TG - intron_variant MALY-DE 8 23710050 23710050 single base substitution G T intron_variant MALY-DE 8 23711280 23711280 deletion of <=200bp T - intron_variant MALY-DE 8 23711838 23711838 single base substitution G A intron_variant MALY-DE 8 23711838 23711838 single base substitution G A upstream_gene_variant MALY-DE 8 23712494 23712494 single base substitution A G upstream_gene_variant MALY-DE 8 23715970 23715970 deletion of <=200bp T - upstream_gene_variant MELA-AU 8 23694533 23694533 single base substitution C T downstream_gene_variant MELA-AU 8 23694565 23694565 single base substitution G A downstream_gene_variant MELA-AU 8 23694609 23694609 single base substitution G A downstream_gene_variant MELA-AU 8 23694719 23694719 single base substitution G A downstream_gene_variant MELA-AU 8 23694913 23694913 single base substitution G A downstream_gene_variant MELA-AU 8 23694928 23694928 single base substitution G C downstream_gene_variant MELA-AU 8 23694930 23694930 single base substitution G A downstream_gene_variant MELA-AU 8 23694987 23694987 single base substitution G A downstream_gene_variant MELA-AU 8 23695043 23695043 single base substitution C T downstream_gene_variant MELA-AU 8 23695071 23695071 single base substitution G A downstream_gene_variant MELA-AU 8 23695088 23695088 single base substitution G A downstream_gene_variant MELA-AU 8 23695124 23695124 single base substitution C T downstream_gene_variant MELA-AU 8 23695160 23695160 single base substitution T A downstream_gene_variant MELA-AU 8 23695194 23695194 single base substitution G A downstream_gene_variant MELA-AU 8 23695199 23695199 single base substitution C A downstream_gene_variant MELA-AU 8 23695234 23695234 single base substitution C T downstream_gene_variant MELA-AU 8 23695320 23695320 single base substitution G A downstream_gene_variant MELA-AU 8 23695325 23695325 single base substitution C T downstream_gene_variant MELA-AU 8 23695421 23695421 single base substitution G A downstream_gene_variant MELA-AU 8 23695478 23695478 single base substitution C T downstream_gene_variant MELA-AU 8 23695488 23695488 single base substitution G A downstream_gene_variant MELA-AU 8 23695592 23695592 single base substitution C T downstream_gene_variant MELA-AU 8 23695679 23695679 single base substitution C T downstream_gene_variant MELA-AU 8 23695717 23695717 single base substitution C T downstream_gene_variant MELA-AU 8 23695825 23695825 single base substitution G A downstream_gene_variant MELA-AU 8 23695959 23695959 single base substitution G A downstream_gene_variant MELA-AU 8 23696178 23696178 single base substitution T A downstream_gene_variant MELA-AU 8 23696180 23696180 single base substitution T A downstream_gene_variant MELA-AU 8 23696181 23696181 single base substitution C T downstream_gene_variant MELA-AU 8 23696192 23696192 single base substitution G A downstream_gene_variant MELA-AU 8 23696234 23696234 single base substitution G A downstream_gene_variant MELA-AU 8 23696273 23696273 single base substitution C T downstream_gene_variant MELA-AU 8 23696318 23696318 single base substitution G A downstream_gene_variant MELA-AU 8 23696344 23696344 single base substitution G A downstream_gene_variant MELA-AU 8 23696390 23696390 single base substitution G A downstream_gene_variant MELA-AU 8 23696404 23696404 single base substitution G A downstream_gene_variant MELA-AU 8 23696440 23696440 single base substitution A G downstream_gene_variant MELA-AU 8 23696464 23696464 single base substitution G A downstream_gene_variant MELA-AU 8 23696526 23696526 single base substitution G A downstream_gene_variant MELA-AU 8 23696712 23696712 single base substitution G A downstream_gene_variant MELA-AU 8 23696944 23696944 single base substitution C T downstream_gene_variant MELA-AU 8 23697021 23697021 single base substitution C T downstream_gene_variant MELA-AU 8 23697327 23697327 single base substitution C T downstream_gene_variant MELA-AU 8 23697563 23697563 single base substitution C T downstream_gene_variant MELA-AU 8 23697653 23697653 single base substitution C T downstream_gene_variant MELA-AU 8 23697800 23697800 single base substitution T A downstream_gene_variant MELA-AU 8 23697987 23697987 single base substitution C T downstream_gene_variant MELA-AU 8 23698116 23698116 single base substitution G A downstream_gene_variant MELA-AU 8 23698435 23698435 single base substitution C T downstream_gene_variant MELA-AU 8 23698607 23698607 single base substitution C T downstream_gene_variant MELA-AU 8 23698614 23698614 single base substitution G A downstream_gene_variant MELA-AU 8 23698673 23698673 single base substitution G A downstream_gene_variant MELA-AU 8 23698687 23698687 single base substitution C T downstream_gene_variant MELA-AU 8 23698788 23698788 single base substitution G A downstream_gene_variant MELA-AU 8 23698793 23698793 single base substitution G A downstream_gene_variant MELA-AU 8 23698835 23698835 single base substitution C T downstream_gene_variant MELA-AU 8 23698855 23698855 single base substitution G A downstream_gene_variant MELA-AU 8 23698902 23698902 single base substitution C T downstream_gene_variant MELA-AU 8 23698931 23698931 single base substitution C T downstream_gene_variant MELA-AU 8 23699109 23699109 single base substitution G A downstream_gene_variant MELA-AU 8 23699175 23699175 single base substitution G A downstream_gene_variant MELA-AU 8 23699266 23699266 single base substitution G A downstream_gene_variant MELA-AU 8 23699354 23699354 single base substitution G A downstream_gene_variant MELA-AU 8 23699575 23699575 single base substitution C T 3_prime_UTR_variant MELA-AU 8 23699575 23699575 single base substitution C T downstream_gene_variant MELA-AU 8 23699968 23699968 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23699968 23699968 single base substitution G A downstream_gene_variant MELA-AU 8 23700116 23700116 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23700116 23700116 single base substitution G A downstream_gene_variant MELA-AU 8 23700148 23700148 single base substitution A T 3_prime_UTR_variant MELA-AU 8 23700148 23700148 single base substitution A T downstream_gene_variant MELA-AU 8 23700209 23700209 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23700209 23700209 single base substitution G A downstream_gene_variant MELA-AU 8 23700244 23700244 single base substitution C T 3_prime_UTR_variant MELA-AU 8 23700244 23700244 single base substitution C T downstream_gene_variant MELA-AU 8 23700412 23700412 single base substitution T C 3_prime_UTR_variant MELA-AU 8 23700412 23700412 single base substitution T C downstream_gene_variant MELA-AU 8 23700524 23700524 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23700524 23700524 single base substitution G A downstream_gene_variant MELA-AU 8 23700592 23700592 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23700592 23700592 single base substitution G A downstream_gene_variant MELA-AU 8 23700597 23700597 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23700597 23700597 single base substitution G A downstream_gene_variant MELA-AU 8 23700600 23700600 single base substitution C T 3_prime_UTR_variant MELA-AU 8 23700600 23700600 single base substitution C T downstream_gene_variant MELA-AU 8 23700625 23700625 single base substitution C T 3_prime_UTR_variant MELA-AU 8 23700625 23700625 single base substitution C T downstream_gene_variant MELA-AU 8 23700802 23700802 single base substitution C T 3_prime_UTR_variant MELA-AU 8 23700802 23700802 single base substitution C T downstream_gene_variant MELA-AU 8 23700845 23700845 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23700845 23700845 single base substitution G A downstream_gene_variant MELA-AU 8 23700904 23700904 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23700904 23700904 single base substitution G A downstream_gene_variant MELA-AU 8 23700943 23700943 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23700943 23700943 single base substitution G A downstream_gene_variant MELA-AU 8 23701077 23701077 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23701077 23701077 single base substitution G A downstream_gene_variant MELA-AU 8 23701255 23701255 single base substitution A G 3_prime_UTR_variant MELA-AU 8 23701255 23701255 single base substitution A G downstream_gene_variant MELA-AU 8 23701466 23701466 single base substitution T G 3_prime_UTR_variant MELA-AU 8 23701686 23701686 single base substitution C T 3_prime_UTR_variant MELA-AU 8 23701840 23701840 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23701864 23701864 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23701945 23701945 single base substitution C T 3_prime_UTR_variant MELA-AU 8 23702027 23702027 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23702067 23702067 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23702132 23702132 single base substitution G A 3_prime_UTR_variant MELA-AU 8 23702144 23702144 single base substitution C T 3_prime_UTR_variant MELA-AU 8 23702222 23702222 single base substitution G T 3_prime_UTR_variant MELA-AU 8 23702281 23702281 single base substitution G T 3_prime_UTR_variant MELA-AU 8 23702338 23702338 single base substitution C T missense_variant R161Q 482G>A MELA-AU 8 23702338 23702338 single base substitution C T missense_variant R230Q 689G>A MELA-AU 8 23702346 23702346 single base substitution C T synonymous_variant R158R 474G>A MELA-AU 8 23702346 23702346 single base substitution C T synonymous_variant R227R 681G>A MELA-AU 8 23702677 23702677 single base substitution C T intron_variant MELA-AU 8 23702779 23702779 single base substitution C T intron_variant MELA-AU 8 23702855 23702855 single base substitution G A intron_variant MELA-AU 8 23702938 23702938 single base substitution G A intron_variant MELA-AU 8 23703040 23703040 single base substitution C T intron_variant MELA-AU 8 23703111 23703111 single base substitution G A intron_variant MELA-AU 8 23703178 23703178 single base substitution C T intron_variant MELA-AU 8 23703290 23703290 single base substitution G A intron_variant MELA-AU 8 23703338 23703338 single base substitution C T intron_variant MELA-AU 8 23703440 23703440 single base substitution G A intron_variant MELA-AU 8 23703503 23703504 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 23703522 23703522 single base substitution C T intron_variant MELA-AU 8 23703540 23703540 single base substitution C T intron_variant MELA-AU 8 23703553 23703553 single base substitution T C intron_variant MELA-AU 8 23703887 23703887 single base substitution C T intron_variant MELA-AU 8 23703903 23703903 single base substitution C T intron_variant MELA-AU 8 23703951 23703951 single base substitution G A intron_variant MELA-AU 8 23704235 23704235 single base substitution C T intron_variant MELA-AU 8 23704240 23704240 single base substitution G A intron_variant MELA-AU 8 23704303 23704303 single base substitution C T intron_variant MELA-AU 8 23704308 23704308 single base substitution G A intron_variant MELA-AU 8 23704335 23704335 single base substitution G C intron_variant MELA-AU 8 23704534 23704534 single base substitution C T intron_variant MELA-AU 8 23704536 23704536 single base substitution G A intron_variant MELA-AU 8 23704546 23704546 single base substitution C T intron_variant MELA-AU 8 23704547 23704547 single base substitution C T intron_variant MELA-AU 8 23704606 23704606 single base substitution C T intron_variant MELA-AU 8 23704683 23704683 single base substitution C T intron_variant MELA-AU 8 23704873 23704873 single base substitution G A intron_variant MELA-AU 8 23704956 23704956 single base substitution G A intron_variant MELA-AU 8 23705200 23705200 single base substitution T A intron_variant MELA-AU 8 23705222 23705222 single base substitution G A intron_variant MELA-AU 8 23705338 23705338 single base substitution C T intron_variant MELA-AU 8 23705496 23705496 single base substitution G A intron_variant MELA-AU 8 23705578 23705578 single base substitution C T intron_variant MELA-AU 8 23705674 23705674 single base substitution C T intron_variant MELA-AU 8 23705748 23705748 single base substitution G A intron_variant MELA-AU 8 23705755 23705755 single base substitution C T intron_variant MELA-AU 8 23705824 23705824 single base substitution C T intron_variant MELA-AU 8 23705862 23705862 single base substitution T G intron_variant MELA-AU 8 23706094 23706094 single base substitution C A intron_variant MELA-AU 8 23706161 23706161 single base substitution G A intron_variant MELA-AU 8 23706345 23706345 single base substitution C T intron_variant MELA-AU 8 23706390 23706390 single base substitution C T intron_variant MELA-AU 8 23706538 23706538 single base substitution G A intron_variant MELA-AU 8 23706589 23706589 single base substitution C G intron_variant MELA-AU 8 23706795 23706795 single base substitution G A intron_variant MELA-AU 8 23706805 23706805 single base substitution A C intron_variant MELA-AU 8 23706809 23706809 single base substitution C T intron_variant MELA-AU 8 23706822 23706822 single base substitution G A intron_variant MELA-AU 8 23707164 23707164 single base substitution G A intron_variant MELA-AU 8 23707195 23707195 single base substitution G A intron_variant MELA-AU 8 23707204 23707204 single base substitution C T intron_variant MELA-AU 8 23707357 23707357 single base substitution C T intron_variant MELA-AU 8 23707387 23707387 single base substitution A T intron_variant MELA-AU 8 23707422 23707422 single base substitution C T intron_variant MELA-AU 8 23707509 23707509 single base substitution C T intron_variant MELA-AU 8 23707518 23707519 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 8 23707539 23707539 single base substitution G A intron_variant MELA-AU 8 23707676 23707676 single base substitution G A intron_variant MELA-AU 8 23707727 23707727 single base substitution C T intron_variant MELA-AU 8 23707784 23707784 single base substitution G A intron_variant MELA-AU 8 23707823 23707823 single base substitution C T intron_variant MELA-AU 8 23707884 23707884 single base substitution G A intron_variant MELA-AU 8 23707991 23707991 single base substitution C T intron_variant MELA-AU 8 23708210 23708210 single base substitution G A intron_variant MELA-AU 8 23708231 23708232 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 23708253 23708253 single base substitution G A intron_variant MELA-AU 8 23708414 23708414 single base substitution T A intron_variant MELA-AU 8 23708485 23708485 single base substitution C T intron_variant MELA-AU 8 23708558 23708558 single base substitution G A intron_variant MELA-AU 8 23708564 23708564 single base substitution G A intron_variant MELA-AU 8 23708649 23708649 single base substitution G T intron_variant MELA-AU 8 23708813 23708813 single base substitution A G intron_variant MELA-AU 8 23708815 23708815 single base substitution A G intron_variant MELA-AU 8 23708950 23708950 single base substitution C T missense_variant R119K 356G>A MELA-AU 8 23708950 23708950 single base substitution C T missense_variant R50K 149G>A MELA-AU 8 23708982 23708982 single base substitution G A synonymous_variant F108F 324C>T MELA-AU 8 23708982 23708982 single base substitution G A synonymous_variant F39F 117C>T MELA-AU 8 23709024 23709024 single base substitution C T synonymous_variant E25E 75G>A MELA-AU 8 23709024 23709024 single base substitution C T synonymous_variant E94E 282G>A MELA-AU 8 23709043 23709043 single base substitution C T missense_variant G19E 56G>A MELA-AU 8 23709043 23709043 single base substitution C T missense_variant G88E 263G>A MELA-AU 8 23709115 23709115 single base substitution G A intron_variant MELA-AU 8 23709173 23709173 single base substitution G A intron_variant MELA-AU 8 23709414 23709414 single base substitution C T intron_variant MELA-AU 8 23709494 23709494 single base substitution G A intron_variant MELA-AU 8 23709684 23709684 single base substitution C T intron_variant MELA-AU 8 23709785 23709785 single base substitution G A synonymous_variant F77F 231C>T MELA-AU 8 23709785 23709785 single base substitution G A synonymous_variant F8F 24C>T MELA-AU 8 23709913 23709913 single base substitution C T intron_variant MELA-AU 8 23709917 23709917 single base substitution C T intron_variant MELA-AU 8 23709953 23709953 single base substitution G A intron_variant MELA-AU 8 23710118 23710118 single base substitution T C intron_variant MELA-AU 8 23710313 23710313 single base substitution G T intron_variant MELA-AU 8 23710320 23710320 single base substitution C T intron_variant MELA-AU 8 23710331 23710331 single base substitution G A intron_variant MELA-AU 8 23710360 23710360 single base substitution G A intron_variant MELA-AU 8 23711128 23711128 single base substitution G A intron_variant MELA-AU 8 23711224 23711224 single base substitution G A intron_variant MELA-AU 8 23711257 23711257 single base substitution G A intron_variant MELA-AU 8 23711311 23711311 single base substitution G A intron_variant MELA-AU 8 23711386 23711386 single base substitution G A intron_variant MELA-AU 8 23712355 23712355 single base substitution C T upstream_gene_variant MELA-AU 8 23712550 23712550 single base substitution C T upstream_gene_variant MELA-AU 8 23712690 23712690 single base substitution G A upstream_gene_variant MELA-AU 8 23712879 23712879 single base substitution A C upstream_gene_variant MELA-AU 8 23712925 23712925 single base substitution G A upstream_gene_variant MELA-AU 8 23713351 23713351 single base substitution G A upstream_gene_variant MELA-AU 8 23713361 23713361 single base substitution G A upstream_gene_variant MELA-AU 8 23713369 23713369 single base substitution G A upstream_gene_variant MELA-AU 8 23713428 23713428 single base substitution G A upstream_gene_variant MELA-AU 8 23713568 23713568 single base substitution G A upstream_gene_variant MELA-AU 8 23713658 23713658 single base substitution G A upstream_gene_variant MELA-AU 8 23713677 23713677 single base substitution G A upstream_gene_variant MELA-AU 8 23713854 23713854 single base substitution C T upstream_gene_variant MELA-AU 8 23713921 23713921 single base substitution G A upstream_gene_variant MELA-AU 8 23713928 23713928 single base substitution G A upstream_gene_variant MELA-AU 8 23713946 23713946 single base substitution G A upstream_gene_variant MELA-AU 8 23714097 23714097 single base substitution C T upstream_gene_variant MELA-AU 8 23714318 23714318 single base substitution C T upstream_gene_variant MELA-AU 8 23714358 23714358 single base substitution G A upstream_gene_variant MELA-AU 8 23714437 23714437 single base substitution G A upstream_gene_variant MELA-AU 8 23714461 23714461 single base substitution C T upstream_gene_variant MELA-AU 8 23714751 23714751 single base substitution C T upstream_gene_variant MELA-AU 8 23714775 23714775 single base substitution C T upstream_gene_variant MELA-AU 8 23714824 23714824 single base substitution C T upstream_gene_variant MELA-AU 8 23715389 23715389 single base substitution C T upstream_gene_variant MELA-AU 8 23715718 23715718 single base substitution G A upstream_gene_variant MELA-AU 8 23715784 23715784 single base substitution G A upstream_gene_variant MELA-AU 8 23715806 23715806 single base substitution G A upstream_gene_variant MELA-AU 8 23716039 23716039 single base substitution G A upstream_gene_variant MELA-AU 8 23716041 23716041 single base substitution A T upstream_gene_variant MELA-AU 8 23716133 23716133 single base substitution C T upstream_gene_variant MELA-AU 8 23716290 23716290 single base substitution G A upstream_gene_variant MELA-AU 8 23716318 23716318 single base substitution C T upstream_gene_variant MELA-AU 8 23716514 23716514 single base substitution T C upstream_gene_variant MELA-AU 8 23716583 23716583 single base substitution A T upstream_gene_variant MELA-AU 8 23716836 23716836 single base substitution G A upstream_gene_variant MELA-AU 8 23716971 23716971 single base substitution G A upstream_gene_variant MELA-AU 8 23717022 23717022 single base substitution G A upstream_gene_variant ORCA-IN 8 23700019 23700019 deletion of <=200bp G - 3_prime_UTR_variant ORCA-IN 8 23700019 23700019 deletion of <=200bp G - downstream_gene_variant ORCA-IN 8 23703987 23703987 single base substitution C T intron_variant ORCA-IN 8 23711934 23711934 single base substitution C A missense_variant A35S 103G>T ORCA-IN 8 23711934 23711934 single base substitution C A upstream_gene_variant OV-AU 8 23695777 23695777 single base substitution G T downstream_gene_variant OV-AU 8 23701450 23701450 single base substitution C A 3_prime_UTR_variant OV-AU 8 23703779 23703779 single base substitution G T intron_variant OV-AU 8 23705172 23705172 single base substitution G A intron_variant OV-AU 8 23716471 23716471 single base substitution G A upstream_gene_variant OV-AU 8 23716897 23716897 single base substitution C T upstream_gene_variant PACA-AU 8 23699581 23699581 single base substitution C T 3_prime_UTR_variant PACA-AU 8 23699581 23699581 single base substitution C T downstream_gene_variant PACA-AU 8 23700014 23700014 single base substitution A G 3_prime_UTR_variant PACA-AU 8 23700014 23700014 single base substitution A G downstream_gene_variant PACA-AU 8 23700305 23700305 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 8 23700305 23700305 deletion of <=200bp A - downstream_gene_variant PACA-AU 8 23701213 23701213 single base substitution A T 3_prime_UTR_variant PACA-AU 8 23701213 23701213 single base substitution A T downstream_gene_variant PACA-AU 8 23702384 23702384 single base substitution G A missense_variant R146C 436C>T PACA-AU 8 23702384 23702384 single base substitution G A missense_variant R215C 643C>T PACA-AU 8 23709817 23709817 single base substitution T C 5_prime_UTR_variant PACA-AU 8 23709817 23709817 single base substitution T C missense_variant T67A 199A>G PACA-AU 8 23717223 23717223 single base substitution C G upstream_gene_variant PACA-CA 8 23695765 23695765 single base substitution T C downstream_gene_variant PACA-CA 8 23695903 23695903 single base substitution G T downstream_gene_variant PACA-CA 8 23697737 23697737 insertion of <=200bp - CAAA downstream_gene_variant PACA-CA 8 23700891 23700891 single base substitution C T 3_prime_UTR_variant PACA-CA 8 23700891 23700891 single base substitution C T downstream_gene_variant PACA-CA 8 23703792 23703792 single base substitution C G intron_variant PACA-CA 8 23705317 23705317 single base substitution T A intron_variant PACA-CA 8 23709527 23709527 single base substitution C T intron_variant PACA-CA 8 23712799 23712799 single base substitution T C upstream_gene_variant PACA-CA 8 23714424 23714424 single base substitution C G upstream_gene_variant PAEN-AU 8 23709098 23709098 single base substitution A T intron_variant PAEN-AU 8 23715489 23715489 single base substitution G A upstream_gene_variant PAEN-AU 8 23716420 23716420 single base substitution G T upstream_gene_variant PAEN-IT 8 23704079 23704079 single base substitution C A intron_variant PBCA-DE 8 23700972 23700972 single base substitution C A 3_prime_UTR_variant PBCA-DE 8 23700972 23700972 single base substitution C A downstream_gene_variant PBCA-DE 8 23702510 23702510 single base substitution C T missense_variant D104N 310G>A PBCA-DE 8 23702510 23702510 single base substitution C T missense_variant D173N 517G>A PBCA-DE 8 23702836 23702836 single base substitution A G intron_variant PBCA-DE 8 23703067 23703068 deletion of <=200bp GT - intron_variant PBCA-DE 8 23709570 23709571 deletion of <=200bp TG - intron_variant PBCA-DE 8 23712410 23712410 single base substitution G A upstream_gene_variant PBCA-DE 8 23713577 23713577 single base substitution G A upstream_gene_variant PBCA-DE 8 23715844 23715845 deletion of <=200bp GT - upstream_gene_variant PRAD-UK 8 23695394 23695394 single base substitution G A downstream_gene_variant READ-US 8 23708862 23708862 single base substitution G T synonymous_variant V148V 444C>A READ-US 8 23708862 23708862 single base substitution G T synonymous_variant V79V 237C>A READ-US 8 23709836 23709836 single base substitution C T 5_prime_UTR_variant READ-US 8 23709836 23709836 single base substitution C T synonymous_variant L60L 180G>A READ-US 8 23709853 23709853 single base substitution C T 5_prime_UTR_variant READ-US 8 23709853 23709853 single base substitution C T missense_variant G55R 163G>A RECA-EU 8 23694958 23694958 single base substitution C T downstream_gene_variant RECA-EU 8 23698321 23698321 single base substitution C T downstream_gene_variant RECA-EU 8 23702870 23702870 single base substitution C A intron_variant RECA-EU 8 23704870 23704870 single base substitution T A intron_variant RECA-EU 8 23704873 23704873 single base substitution G T intron_variant SKCA-BR 8 23695579 23695579 single base substitution G A downstream_gene_variant SKCA-BR 8 23695672 23695672 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 8 23696998 23696998 single base substitution G A downstream_gene_variant SKCA-BR 8 23697324 23697324 single base substitution G A downstream_gene_variant SKCA-BR 8 23697469 23697469 single base substitution C T downstream_gene_variant SKCA-BR 8 23697492 23697492 single base substitution C T downstream_gene_variant SKCA-BR 8 23698122 23698122 single base substitution G A downstream_gene_variant SKCA-BR 8 23698556 23698556 single base substitution C T downstream_gene_variant SKCA-BR 8 23698899 23698899 single base substitution C T downstream_gene_variant SKCA-BR 8 23699057 23699057 single base substitution G A downstream_gene_variant SKCA-BR 8 23699790 23699790 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 23699790 23699790 single base substitution G A downstream_gene_variant SKCA-BR 8 23700428 23700428 single base substitution A C 3_prime_UTR_variant SKCA-BR 8 23700428 23700428 single base substitution A C downstream_gene_variant SKCA-BR 8 23700499 23700499 single base substitution C T 3_prime_UTR_variant SKCA-BR 8 23700499 23700499 single base substitution C T downstream_gene_variant SKCA-BR 8 23700586 23700586 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 23700586 23700586 single base substitution G A downstream_gene_variant SKCA-BR 8 23700845 23700845 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 23700845 23700845 single base substitution G A downstream_gene_variant SKCA-BR 8 23702011 23702011 single base substitution G A 3_prime_UTR_variant SKCA-BR 8 23702339 23702339 single base substitution G A stop_gained R161* 481C>T SKCA-BR 8 23702339 23702339 single base substitution G A stop_gained R230* 688C>T SKCA-BR 8 23702932 23702932 single base substitution G A intron_variant SKCA-BR 8 23703291 23703291 single base substitution G A intron_variant SKCA-BR 8 23703522 23703522 single base substitution C T intron_variant SKCA-BR 8 23704295 23704295 single base substitution G T intron_variant SKCA-BR 8 23704418 23704418 single base substitution A G intron_variant SKCA-BR 8 23705139 23705139 single base substitution C T intron_variant SKCA-BR 8 23705268 23705268 single base substitution G A intron_variant SKCA-BR 8 23706208 23706208 single base substitution C T intron_variant SKCA-BR 8 23706301 23706301 single base substitution C T intron_variant SKCA-BR 8 23706323 23706323 single base substitution G A intron_variant SKCA-BR 8 23706667 23706667 single base substitution G A intron_variant SKCA-BR 8 23707235 23707235 single base substitution C T intron_variant SKCA-BR 8 23708003 23708003 single base substitution C T intron_variant SKCA-BR 8 23708425 23708425 insertion of <=200bp - CT intron_variant SKCA-BR 8 23708640 23708640 single base substitution G A intron_variant SKCA-BR 8 23708846 23708846 single base substitution G A missense_variant H154Y 460C>T SKCA-BR 8 23708846 23708846 single base substitution G A missense_variant H85Y 253C>T SKCA-BR 8 23709631 23709631 single base substitution G A intron_variant SKCA-BR 8 23711234 23711234 single base substitution G A intron_variant SKCA-BR 8 23712066 23712066 insertion of <=200bp - GT 5_prime_UTR_variant SKCA-BR 8 23712066 23712066 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 8 23712383 23712383 single base substitution C T upstream_gene_variant SKCA-BR 8 23714535 23714535 single base substitution C T upstream_gene_variant SKCA-BR 8 23714958 23714958 single base substitution C G upstream_gene_variant SKCA-BR 8 23714992 23714992 single base substitution G A upstream_gene_variant SKCA-BR 8 23715871 23715871 single base substitution T C upstream_gene_variant SKCA-BR 8 23716525 23716525 single base substitution G A upstream_gene_variant SKCA-BR 8 23716531 23716531 single base substitution G C upstream_gene_variant SKCM-US 8 23702327 23702327 single base substitution C T missense_variant D165N 493G>A SKCM-US 8 23702327 23702327 single base substitution C T missense_variant D234N 700G>A SKCM-US 8 23702352 23702352 single base substitution G A synonymous_variant L156L 468C>T SKCM-US 8 23702352 23702352 single base substitution G A synonymous_variant L225L 675C>T SKCM-US 8 23702404 23702404 single base substitution C T missense_variant R139Q 416G>A SKCM-US 8 23702404 23702404 single base substitution C T missense_variant R208Q 623G>A SKCM-US 8 23702439 23702439 single base substitution G A synonymous_variant I127I 381C>T SKCM-US 8 23702439 23702439 single base substitution G A synonymous_variant I196I 588C>T SKCM-US 8 23702445 23702445 single base substitution G A synonymous_variant F125F 375C>T SKCM-US 8 23702445 23702445 single base substitution G A synonymous_variant F194F 582C>T SKCM-US 8 23702457 23702457 single base substitution C T missense_variant M121I 363G>A SKCM-US 8 23702457 23702457 single base substitution C T missense_variant M190I 570G>A SKCM-US 8 23708886 23708886 single base substitution C T synonymous_variant R140R 420G>A SKCM-US 8 23708886 23708886 single base substitution C T synonymous_variant R71R 213G>A SKCM-US 8 23708887 23708887 single base substitution C T missense_variant R140Q 419G>A SKCM-US 8 23708887 23708887 single base substitution C T missense_variant R71Q 212G>A SKCM-US 8 23708982 23708982 single base substitution G A synonymous_variant F108F 324C>T SKCM-US 8 23708982 23708982 single base substitution G A synonymous_variant F39F 117C>T SKCM-US 8 23709002 23709002 single base substitution C T missense_variant G102R 304G>A SKCM-US 8 23709002 23709002 single base substitution C T missense_variant G33R 97G>A SKCM-US 8 23709033 23709033 single base substitution G A synonymous_variant F22F 66C>T SKCM-US 8 23709033 23709033 single base substitution G A synonymous_variant F91F 273C>T SKCM-US 8 23709810 23709810 single base substitution C T 5_prime_UTR_variant SKCM-US 8 23709810 23709810 single base substitution C T missense_variant G69E 206G>A SKCM-US 8 23709814 23709814 single base substitution C T 5_prime_UTR_variant SKCM-US 8 23709814 23709814 single base substitution C T missense_variant D68N 202G>A SKCM-US 8 23709835 23709835 single base substitution C T 5_prime_UTR_variant SKCM-US 8 23709835 23709835 single base substitution C T missense_variant E61K 181G>A SKCM-US 8 23711947 23711947 single base substitution C T synonymous_variant R30R 90G>A SKCM-US 8 23711947 23711947 single base substitution C T upstream_gene_variant STAD-US 8 23702305 23702305 single base substitution C T missense_variant R172H 515G>A STAD-US 8 23702305 23702305 single base substitution C T missense_variant R241H 722G>A STAD-US 8 23709800 23709800 single base substitution G A synonymous_variant D3D 9C>T STAD-US 8 23709800 23709800 single base substitution G A synonymous_variant D72D 216C>T STAD-US 8 23709860 23709860 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 8 23709860 23709860 single base substitution G A synonymous_variant V52V 156C>T STAD-US 8 23709885 23709885 single base substitution C T 5_prime_UTR_variant STAD-US 8 23709885 23709885 single base substitution C T missense_variant R44H 131G>A UCEC-US 8 23702305 23702305 single base substitution C T missense_variant R172H 515G>A UCEC-US 8 23702305 23702305 single base substitution C T missense_variant R241H 722G>A UCEC-US 8 23702371 23702371 single base substitution G A missense_variant P150L 449C>T UCEC-US 8 23702371 23702371 single base substitution G A missense_variant P219L 656C>T UCEC-US 8 23702452 23702452 single base substitution C A missense_variant S123I 368G>T UCEC-US 8 23702452 23702452 single base substitution C A missense_variant S192I 575G>T UCEC-US 8 23708950 23708950 single base substitution C A missense_variant R119M 356G>T UCEC-US 8 23708950 23708950 single base substitution C A missense_variant R50M 149G>T UCEC-US 8 23708988 23708988 single base substitution C A missense_variant K106N 318G>T UCEC-US 8 23708988 23708988 single base substitution C A missense_variant K37N 111G>T UCEC-US 8 23709024 23709024 single base substitution C A missense_variant E25D 75G>T UCEC-US 8 23709024 23709024 single base substitution C A missense_variant E94D 282G>T UCEC-US 8 23709775 23709775 single base substitution C T missense_variant A12T 34G>A UCEC-US 8 23709775 23709775 single base substitution C T missense_variant A81T 241G>A UCEC-US 8 23709781 23709781 single base substitution A G missense_variant Y10H 28T>C UCEC-US 8 23709781 23709781 single base substitution A G missense_variant Y79H 235T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S00944 COSM315651 c.351C>T p.F117F Substitution - coding silent 8:23851442-23851442 - CHC1600T COSM4791554 c.442G>A p.V148I Substitution - Missense 8:23851351-23851351 - TCGA-CM-6165-01 COSM1235096 c.445G>A p.V149I Substitution - Missense 8:23851348-23851348 - 234 COSM3731008 c.508T>C p.C170R Substitution - Missense 8:23845006-23845006 - LUAD-NYU575 COSM375126 c.221G>T p.C74F Substitution - Missense 8:23852282-23852282 - TCGA-CF-A27C-01 COSM1313942 c.263G>T p.G88V Substitution - Missense 8:23851530-23851530 - C91 COSM4445153 c.157G>T p.G53C Substitution - Missense 8:23852346-23852346 - MO_1263 COSM218950 c.643C>T p.R215C Substitution - Missense 8:23844871-23844871 - TCGA-AF-6136-01 COSM5065922 c.453G>T p.L151L Substitution - coding silent 8:23851340-23851340 - OSCC-GB_00630111 COSM4884979 c.103G>T p.A35S Substitution - Missense 8:23854421-23854421 - TCGA-AX-A0J1-01 COSM1098277 c.575G>T p.S192I Substitution - Missense 8:23844939-23844939 - ATL045 COSM5710923 c.566A>C p.N189T Substitution - Missense 8:23844948-23844948 - S00935 COSM315650 c.121G>C p.E41Q Substitution - Missense 8:23852382-23852382 - WA16 COSM241784 c.635A>G p.N212S Substitution - Missense 8:23844879-23844879 - CHC892T COSM4794764 c.544C>T p.L182L Substitution - coding silent 8:23844970-23844970 - TCGA-BR-4256-01 COSM3899045 c.131G>A p.R44H Substitution - Missense 8:23852372-23852372 - HCC136T COSM5817149 c.530C>A p.T177K Substitution - Missense 8:23844984-23844984 - CHC1600T COSM4791554 c.442G>A p.V148I Substitution - Missense 8:23851351-23851351 - 1T COSM110417 c.189C>T p.S63S Substitution - coding silent 8:23852314-23852314 - LIM2405 COSM4643236 c.98G>A p.R33Q Substitution - Missense 8:23854426-23854426 - TCGA-ER-A19N-06 COSM3925032 c.420G>A p.R140R Substitution - coding silent 8:23851373-23851373 - TCGA-AP-A0LM-01 COSM1098283 c.241G>A p.A81T Substitution - Missense 8:23852262-23852262 - TCGA-CC-5262-01 COSM4919284 c.33G>A p.L11L Substitution - coding silent 8:23854491-23854491 - LUAD-U6SJ7 COSM400303 c.602A>T p.H201L Substitution - Missense 8:23844912-23844912 - TCGA-21-1070-01 COSM750041 c.307G>T p.V103F Substitution - Missense 8:23851486-23851486 - 587342 COSM1227839 c.335G>A p.R112Q Substitution - Missense 8:23851458-23851458 - TCGA-FS-A1ZW-06 COSM3647389 c.588C>T p.I196I Substitution - coding silent 8:23844926-23844926 - 40M COSM2786765 c.411C>T p.I137I Substitution - coding silent 8:23851382-23851382 - TCGA-BP-4960-01 COSM1496840 c.106G>A p.A36T Substitution - Missense 8:23854418-23854418 - 462 COSM4436934 c.376G>A p.E126K Substitution - Missense 8:23851417-23851417 - CSCC-62-T COSM4453364 c.281A>G p.E94G Substitution - Missense 8:23851512-23851512 - TCGA-EB-A3XD-01 COSM3647393 c.304G>A p.G102R Substitution - Missense 8:23851489-23851489 - ICGC_0037 COSM218950 c.643C>T p.R215C Substitution - Missense 8:23844871-23844871 - TCGA-D3-A3MR-06 COSM1699826 c.202G>A p.D68N Substitution - Missense 8:23852301-23852301 - YUZINO COSM1699824 c.356G>A p.R119K Substitution - Missense 8:23851437-23851437 - PT16_1 COSM5898363 c.259C>A p.Q87K Substitution - Missense 8:23852244-23852244 - 578 COSM98240 c.119-2A>T p.? Unknown 8:23852386-23852386 - TCGA-HU-A4G9-01 COSM2786770 c.156C>T p.V52V Substitution - coding silent 8:23852347-23852347 - SC_9032 COSM5548061 c.118+1_118+18del18 p.? Unknown 8:23854388-23854405 - YUFLA COSM1699826 c.202G>A p.D68N Substitution - Missense 8:23852301-23852301 - YUPLA COSM5409234 c.263G>A p.G88E Substitution - Missense 8:23851530-23851530 - TCGA-D1-A17M-01 COSM1098281 c.298G>A p.A100T Substitution - Missense 8:23851495-23851495 - CSCC-27-T COSM3647397 c.90G>A p.R30R Substitution - coding silent 8:23854434-23854434 - TCGA-12-0692-01 COSM3412924 c.303C>T p.N101N Substitution - coding silent 8:23851490-23851490 - TCGA-EE-A2MF-06 COSM4892554 c.324C>T p.F108F Substitution - coding silent 8:23851469-23851469 - TCGA-AP-A0LM-01 COSM1098278 c.356G>T p.R119M Substitution - Missense 8:23851437-23851437 - 8015127 COSM3395242 c.199A>G p.T67A Substitution - Missense 8:23852304-23852304 - TCGA-EI-6509-01 COSM3432281 c.163G>A p.G55R Substitution - Missense 8:23852340-23852340 - Pat_15_B COSM4436934 c.376G>A p.E126K Substitution - Missense 8:23851417-23851417 - TCGA-BH-A18G-01 COSM3834449 c.368A>G p.E123G Substitution - Missense 8:23851425-23851425 - 24T COSM106642 c.130C>T p.R44C Substitution - Missense 8:23852373-23852373 - CSCC-7-T COSM4505961 c.706C>T p.P236S Substitution - Missense 8:23844808-23844808 - TCGA-GN-A266-06 COSM3647388 c.675C>T p.L225L Substitution - coding silent 8:23844839-23844839 - 578 COSM98240 c.119-2A>T p.? Unknown 8:23852386-23852386 - TCGA-D3-A2JH-06 COSM3647397 c.90G>A p.R30R Substitution - coding silent 8:23854434-23854434 - YUKLAB COSM1699827 c.116C>T p.S39L Substitution - Missense 8:23854408-23854408 - TCGA-BR-4184-01 COSM1098275 c.722G>A p.R241H Substitution - Missense 8:23844792-23844792 - cSCCP1 COSM134245 c.577C>T p.L193F Substitution - Missense 8:23844937-23844937 - CSCC-44-T COSM3647393 c.304G>A p.G102R Substitution - Missense 8:23851489-23851489 - Gp2D COSM2786766 c.327C>T p.L109L Substitution - coding silent 8:23851466-23851466 - ESO-0280 COSM1266915 c.236A>G p.Y79C Substitution - Missense 8:23852267-23852267 - TCGA-F5-6814-01 COSM3432280 c.444C>A p.V148V Substitution - coding silent 8:23851349-23851349 - TCGA-D3-A1QB-06 COSM3647392 c.419G>A p.R140Q Substitution - Missense 8:23851374-23851374 - Gp5D COSM2786766 c.327C>T p.L109L Substitution - coding silent 8:23851466-23851466 - 13D COSM1235096 c.445G>A p.V149I Substitution - Missense 8:23851348-23851348 - ESCC_BICR_066T COSM5444717 c.162C>T p.C54C Substitution - coding silent 8:23852341-23852341 - Pat_15_A COSM4436934 c.376G>A p.E126K Substitution - Missense 8:23851417-23851417 - ESCC_137 COSM1235096 c.445G>A p.V149I Substitution - Missense 8:23851348-23851348 - TCGA-B5-A0K6-01 COSM1098280 c.299C>T p.A100V Substitution - Missense 8:23851494-23851494 - YUOTHO COSM5409235 c.231C>T p.F77F Substitution - coding silent 8:23852272-23852272 - YUSCO COSM1699825 c.205G>A p.G69R Substitution - Missense 8:23852298-23852298 - ESCC_BICR_048T COSM5432397 c.253G>C p.D85H Substitution - Missense 8:23852250-23852250 - S02279 COSM5683893 c.297C>T p.I99I Substitution - coding silent 8:23851496-23851496 - BD124T COSM3647393 c.304G>A p.G102R Substitution - Missense 8:23851489-23851489 - TCGA-EE-A3AD-06 COSM3647391 c.570G>A p.M190I Substitution - Missense 8:23844944-23844944 - PD14465a COSM5787014 c.302A>G p.N101S Substitution - Missense 8:23851491-23851491 - TCGA-19-5955-01 COSM3412923 c.721C>T p.R241C Substitution - Missense 8:23844793-23844793 - S00944 COSM315651 c.351C>T p.F117F Substitution - coding silent 8:23851442-23851442 - TCGA-ER-A19L-06 COSM3647394 c.273C>T p.F91F Substitution - coding silent 8:23851520-23851520 - PT16_1 COSM106642 c.130C>T p.R44C Substitution - Missense 8:23852373-23852373 - PT53 COSM5941299 c.41G>A p.S14N Substitution - Missense 8:23854483-23854483 - CSCC-20-T COSM2786765 c.411C>T p.I137I Substitution - coding silent 8:23851382-23851382 - LAU165 COSM235443 c.180G>A p.L60L Substitution - coding silent 8:23852323-23852323 - 35M COSM3925031 c.623G>A p.R208Q Substitution - Missense 8:23844891-23844891 - CRC-36T COSM5460907 c.556A>G p.I186V Substitution - Missense 8:23844958-23844958 - CHC892T COSM4794764 c.544C>T p.L182L Substitution - coding silent 8:23844970-23844970 - 49M COSM2786765 c.411C>T p.I137I Substitution - coding silent 8:23851382-23851382 - TCGA-AA-A02O-01 COSM300922 c.280G>C p.E94Q Substitution - Missense 8:23851513-23851513 - PD4970a COSM5793505 c.64G>A p.E22K Substitution - Missense 8:23854460-23854460 - TCGA-30-1718-01 COSM1331059 c.599A>G p.D200G Substitution - Missense 8:23844915-23844915 - TCGA-AP-A0LT-01 COSM1098275 c.722G>A p.R241H Substitution - Missense 8:23844792-23844792 - sysucc-1370T COSM5472570 c.436A>G p.T146A Substitution - Missense 8:23851357-23851357 - TCGA-AP-A059-01 COSM1098279 c.318G>T p.K106N Substitution - Missense 8:23851475-23851475 - TCGA-EE-A3JA-06 COSM3647396 c.181G>A p.E61K Substitution - Missense 8:23852322-23852322 - sysucc-882T COSM5447798 c.386A>G p.Y129C Substitution - Missense 8:23851407-23851407 - TCGA-AG-4021-01 COSM235443 c.180G>A p.L60L Substitution - coding silent 8:23852323-23852323 - D28 COSM5545890 c.119-1G>A p.? Unknown 8:23852385-23852385 - TCGA-B5-A0JY-01 COSM1098282 c.282G>T p.E94D Substitution - Missense 8:23851511-23851511 - TCGA-EE-A3JD-06 COSM4395723 c.700G>A p.D234N Substitution - Missense 8:23844814-23844814 - RK048_C01 COSM1635725 c.321C>T p.V107V Substitution - coding silent 8:23851472-23851472 - 93T COSM108238 c.688C>G p.R230G Substitution - Missense 8:23844826-23844826 - 8015259 COSM218950 c.643C>T p.R215C Substitution - Missense 8:23844871-23844871 - TCGA-D1-A103-01 COSM1098276 c.656C>T p.P219L Substitution - Missense 8:23844858-23844858 - TCGA-G3-A5SI-01 COSM4918055 c.126G>T p.V42V Substitution - coding silent 8:23852377-23852377 - TCGA-B0-4839-01 COSM3367294 c.688C>A p.R230R Substitution - coding silent 8:23844826-23844826 - TCGA-33-4586-01 COSM750039 c.180G>T p.L60L Substitution - coding silent 8:23852323-23852323 - T2269 COSM4730477 c.485G>T p.R162I Substitution - Missense 8:23845029-23845029 - TCGA-22-4613-01 COSM750042 c.308T>A p.V103D Substitution - Missense 8:23851485-23851485 - TCGA-D9-A1JW-06 COSM3647395 c.206G>A p.G69E Substitution - Missense 8:23852297-23852297 - pfg016T COSM1643573 c.328G>A p.A110T Substitution - Missense 8:23851465-23851465 - TCGA-GF-A6C9-06 COSM3925031 c.623G>A p.R208Q Substitution - Missense 8:23844891-23844891 - RK048_C COSM1635725 c.321C>T p.V107V Substitution - coding silent 8:23851472-23851472 - sysucc-311T COSM5467394 c.494G>A p.R165Q Substitution - Missense 8:23845020-23845020 - TCGA-GN-A269-01 COSM3647390 c.582C>T p.F194F Substitution - coding silent 8:23844932-23844932 - TCGA-BS-A0UV-01 COSM1098284 c.235T>C p.Y79H Substitution - Missense 8:23852268-23852268 - TCGA-BI-A0VR-01 COSM461456 c.274G>A p.V92I Substitution - Missense 8:23851519-23851519 - TCGA-AG-3612-01 COSM288176 c.501G>A p.L167L Substitution - coding silent 8:23845013-23845013 - TCGA-FW-A3R5-06 COSM3925031 c.623G>A p.R208Q Substitution - Missense 8:23844891-23844891 - TCGA-CG-5733-01 COSM3899044 c.216C>T p.D72D Substitution - coding silent 8:23852287-23852287 - BRC50 COSM5026890 c.343T>C p.S115P Substitution - Missense 8:23851450-23851450 - TCGA-18-5592-01 COSM750043 c.490G>C p.V164L Substitution - Missense 8:23845024-23845024 - TCGA-BS-A0UF-01 COSM1098283 c.241G>A p.A81T Substitution - Missense 8:23852262-23852262 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.25567;Hs.25584;Hs.25590 8p21-p11.2 601185

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.A209A c.627T>G 8 23702400 HNSC A G Missense p.S115P c.343T>C 8 23708963 BRCA A T Missense p.V103D c.308T>A 8 23708998 LUSC C A Missense p.G88V c.263G>T 8 23709043 BLCA C A Missense p.V103F c.307G>T 8 23708999 LUSC C A Synonymous p.L60L c.180G>T 8 23709836 LUSC C G Missense p.E147D c.441G>C 8 23708865 LUAD C G Missense p.E41Q c.121G>C 8 23709895 SCLC C G Missense p.E94Q c.280G>C 8 23709026 COREAD C G Missense p.V164L c.490G>C 8 23702537 LUSC C T 3-UTRSNV . c.741+1189G>A 8 23701097 HC C T 5-UTRSNV . c.1-47G>A 8 23712083 CM C T Missense p.A110T c.328G>A 8 23708978 STAD C T Missense p.D173N c.517G>A 8 23702510 MB C T Missense p.D180N c.538G>A 8 23702489 CM C T Missense p.D234N c.700G>A 8 23702327 CM C T Missense p.D66N c.196G>A 8 23709820 CM C T Missense p.D68N c.202G>A 8 23709814 CM C T Missense p.E61K c.181G>A 8 23709835 CM C T Missense p.G69E c.206G>A 8 23709810 CM C T Missense p.M190I c.570G>A 8 23702457 CM C T Missense p.R140Q c.419G>A 8 23708887 CM C T Missense p.R241H c.722G>A 8 23702305 UCEC C T Missense p.R44H c.131G>A 8 23709885 STAD C T SpliceDonorSNV . c.261+1G>A 8 23709754 BRCA C T Synonymous p.L167L c.501G>A 8 23702526 COREAD C T Synonymous p.R140R c.420G>A 8 23708886 CM C T Synonymous p.R30R c.90G>A 8 23711947 CM G A 3-UTRSNV . c.741+109C>T 8 23702177 CM G A Missense p.R112W c.334C>T 8 23708972 CM G A Missense p.R215C c.643C>T 8 23702384 PAAD G A Missense p.R241C c.721C>T 8 23702306 GBM G A Missense p.S105F c.314C>T 8 23708992 CM G A Nonsense p.Q118* c.352C>T 8 23708954 CM G A Synonymous p.D72D c.216C>T 8 23709800 STAD G A Synonymous p.F108F c.324C>T 8 23708982 CM G A Synonymous p.F117F c.351C>T 8 23708955 SCLC G A Synonymous p.F194F c.582C>T 8 23702445 CM G A Synonymous p.F91F c.273C>T 8 23709033 CM G A Synonymous p.I196I c.588C>T 8 23702439 CM G A Synonymous p.N101N c.303C>T 8 23709003 GBM G A Synonymous p.V107V c.321C>T 8 23708985 HC G A Synonymous p.V148V c.444C>T 8 23708862 CM G - Frameshift p.R179Efs*4 c.534delC 8 23702493 HNSC G T Missense p.D173E c.519C>A 8 23702508 CM G T Missense p.Q204K c.610C>A 8 23702417 LUAD G T Synonymous p.R230R c.688C>A 8 23702339 RCCC G T Synonymous p.S32S c.96C>A 8 23711941 LUAD T A SpliceAcceptorSNV . c.119-2A>T 8 23709899 HNSC T C Missense p.N141S c.422A>G 8 23708884 CM T C Missense p.Y79C c.236A>G 8 23709780 ESCA T G 5-UTRSNV . c.1-31A>C 8 23712067 NSCLC T G Missense p.H201P c.602A>C 8 23702425 HNSC