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 12 118472108 118472108 + Nonsense_Mutation SNP T T A TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 g.chr12:118472108T>A c.1108A>T c.(1108-1110)Aag>Tag p.K370* BLCA 12 118473075 118473075 + Silent SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr12:118473075C>T c.888G>A c.(886-888)ctG>ctA p.L296L BLCA 12 118476129 118476129 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr12:118476129G>C c.624C>G c.(622-624)gaC>gaG p.D208E BLCA 12 118480669 118480669 + Missense_Mutation SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 g.chr12:118480669C>T c.536G>A c.(535-537)cGc>cAc p.R179H BLCA 12 118480755 118480755 + Silent SNP G G A TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr12:118480755G>A c.450C>T c.(448-450)tcC>tcT p.S150S BLCA 12 118481089 118481089 + Missense_Mutation SNP C C G TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr12:118481089C>G c.276G>C c.(274-276)caG>caC p.Q92H BLCA 12 118490215 118490215 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr12:118490215C>G c.82G>C c.(82-84)Gaa>Caa p.E28Q BRCA 12 118472017 118472017 + Missense_Mutation SNP G G T TCGA-AR-A0U3-01A-11D-A10G-09 TCGA-AR-A0U3-10A-01D-A10G-09 g.chr12:118472017G>T c.1199C>A c.(1198-1200)aCa>aAa p.T400K COAD 12 118472047 118472047 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:118472047G>A c.1169C>T c.(1168-1170)cCa>cTa p.P390L COAD 12 118472047 118472047 + Missense_Mutation SNP G G A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr12:118472047G>A c.1169C>T c.(1168-1170)cCa>cTa p.P390L COAD 12 118474208 118474208 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr12:118474208C>T c.768G>A c.(766-768)acG>acA p.T256T COAD 12 118474221 118474221 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:118474221G>A c.755C>T c.(754-756)gCc>gTc p.A252V COAD 12 118476185 118476185 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:118476185T>C c.568A>G c.(568-570)Att>Gtt p.I190V COAD 12 118481006 118481006 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr12:118481006T>C c.359A>G c.(358-360)gAt>gGt p.D120G COAD 12 118481127 118481127 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:118481127G>A c.238C>T c.(238-240)Cgg>Tgg p.R80W COAD 12 118481134 118481134 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:118481134C>T c.231G>A c.(229-231)acG>acA p.T77T COAD 12 118490204 118490204 + Silent SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:118490204G>A c.93C>T c.(91-93)agC>agT p.S31S COADREAD 12 118472047 118472047 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:118472047G>A c.1169C>T c.(1168-1170)cCa>cTa p.P390L COADREAD 12 118472047 118472047 + Missense_Mutation SNP G G A TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr12:118472047G>A c.1169C>T c.(1168-1170)cCa>cTa p.P390L COADREAD 12 118474208 118474208 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr12:118474208C>T c.768G>A c.(766-768)acG>acA p.T256T COADREAD 12 118474221 118474221 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:118474221G>A c.755C>T c.(754-756)gCc>gTc p.A252V COADREAD 12 118476185 118476185 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:118476185T>C c.568A>G c.(568-570)Att>Gtt p.I190V COADREAD 12 118481006 118481006 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr12:118481006T>C c.359A>G c.(358-360)gAt>gGt p.D120G COADREAD 12 118481127 118481127 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:118481127G>A c.238C>T c.(238-240)Cgg>Tgg p.R80W COADREAD 12 118481134 118481134 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:118481134C>T c.231G>A c.(229-231)acG>acA p.T77T COADREAD 12 118490150 118490150 + Silent SNP G G A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr12:118490150G>A c.147C>T c.(145-147)atC>atT p.I49I COADREAD 12 118490204 118490204 + Silent SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr12:118490204G>A c.93C>T c.(91-93)agC>agT p.S31S DLBC 12 118474238 118474238 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr12:118474238G>A c.738C>T c.(736-738)gaC>gaT p.D246D GBM 12 118490112 118490113 + Intron INS - - A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr12:118490112_118490113insA GBMLGG 12 118481168 118481168 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:118481168A>G c.197T>C c.(196-198)tTt>tCt p.F66S GBMLGG 12 118490112 118490113 + Intron INS - - A TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr12:118490112_118490113insA HNSC 12 118473017 118473018 + Splice_Site INS - - C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 g.chr12:118473017_118473018insC c.e7+1 HNSC 12 118473077 118473077 + Missense_Mutation SNP G G T TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr12:118473077G>T c.886C>A c.(886-888)Ctg>Atg p.L296M HNSC 12 118474261 118474261 + Missense_Mutation SNP G G C TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr12:118474261G>C c.715C>G c.(715-717)Caa>Gaa p.Q239E HNSC 12 118480755 118480755 + Silent SNP G G A TCGA-QK-A652-01A-11D-A30E-08 TCGA-QK-A652-10A-01D-A30H-08 g.chr12:118480755G>A c.450C>T c.(448-450)tcC>tcT p.S150S HNSC 12 118480989 118480989 + Missense_Mutation SNP G G A TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr12:118480989G>A c.376C>T c.(376-378)Ctt>Ttt p.L126F KIPAN 12 118481141 118481141 + Missense_Mutation SNP T T A TCGA-CZ-5460-01A-01D-1501-10 TCGA-CZ-5460-11A-01D-1501-10 g.chr12:118481141T>A c.224A>T c.(223-225)aAt>aTt p.N75I KIPAN 12 118481144 118481144 + Missense_Mutation SNP T T A TCGA-CZ-5460-01A-01D-1501-10 TCGA-CZ-5460-11A-01D-1501-10 g.chr12:118481144T>A c.221A>T c.(220-222)aAa>aTa p.K74I KIRC 12 118481141 118481141 + Missense_Mutation SNP T T A TCGA-CZ-5460-01A-01D-1501-10 TCGA-CZ-5460-11A-01D-1501-10 g.chr12:118481141T>A c.224A>T c.(223-225)aAt>aTt p.N75I KIRC 12 118481144 118481144 + Missense_Mutation SNP T T A TCGA-CZ-5460-01A-01D-1501-10 TCGA-CZ-5460-11A-01D-1501-10 g.chr12:118481144T>A c.221A>T c.(220-222)aAa>aTa p.K74I LGG 12 118481168 118481168 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:118481168A>G c.197T>C c.(196-198)tTt>tCt p.F66S LIHC 12 118472835 118472835 + Silent SNP C C G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr12:118472835C>G c.1008G>C c.(1006-1008)ggG>ggC p.G336G LIHC 12 118474281 118474281 + Missense_Mutation SNP A A C TCGA-DD-AAD1-01A-11D-A40R-10 TCGA-DD-AAD1-10A-01D-A40U-10 g.chr12:118474281A>C c.695T>G c.(694-696)aTt>aGt p.I232S LIHC 12 118480654 118480654 + Missense_Mutation SNP T T C TCGA-DD-AACN-01A-11D-A40R-10 TCGA-DD-AACN-10A-01D-A40U-10 g.chr12:118480654T>C c.551A>G c.(550-552)aAt>aGt p.N184S OV 12 118472046 118472046 + Silent SNP T T C TCGA-23-1032-01A-02W-0486-08 TCGA-23-1032-10A-01W-0486-08 g.chr12:118472046T>C c.1170A>G c.(1168-1170)ccA>ccG p.P390P PAAD 12 118474256 118474256 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:118474256G>T c.720C>A c.(718-720)agC>agA p.S240R PAAD 12 118480730 118480730 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:118480730G>T c.475C>A c.(475-477)Ctg>Atg p.L159M PAAD 12 118481162 118481162 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 g.chr12:118481162G>C c.203C>G c.(202-204)gCc>gGc p.A68G PRAD 12 118472080 118472080 + Missense_Mutation SNP C C G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 g.chr12:118472080C>G c.1136G>C c.(1135-1137)aGt>aCt p.S379T PRAD 12 118474220 118474220 + Silent SNP G G C TCGA-FC-A6HD-01A-11D-A31L-08 TCGA-FC-A6HD-10A-01D-A31J-08 g.chr12:118474220G>C c.756C>G c.(754-756)gcC>gcG p.A252A READ 12 118490150 118490150 + Silent SNP G G A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr12:118490150G>A c.147C>T c.(145-147)atC>atT p.I49I SKCM 12 118481179 118481179 + Missense_Mutation SNP G G C TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr12:118481179G>C c.186C>G c.(184-186)atC>atG p.I62M

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 118490221 118490221 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant BLCA-CN 12 118490221 118490221 single base substitution T A exon_variant BLCA-CN 12 118490221 118490221 single base substitution T A missense_variant S26C 76A>T BLCA-CN 12 118490221 118490221 single base substitution T A missense_variant S28C 82A>T BLCA-CN 12 118490221 118490221 single base substitution T A missense_variant S43C 127A>T BLCA-CN 12 118490221 118490221 single base substitution T A upstream_gene_variant BLCA-US 12 118476129 118476129 single base substitution G C 3_prime_UTR_variant BLCA-US 12 118476129 118476129 single base substitution G C 5_prime_UTR_variant BLCA-US 12 118476129 118476129 single base substitution G C downstream_gene_variant BLCA-US 12 118476129 118476129 single base substitution G C exon_variant BLCA-US 12 118476129 118476129 single base substitution G C intron_variant BLCA-US 12 118476129 118476129 single base substitution G C missense_variant D208E 624C>G BLCA-US 12 118476129 118476129 single base substitution G C missense_variant D210E 630C>G BLCA-US 12 118476129 118476129 single base substitution G C missense_variant D225E 675C>G BLCA-US 12 118480669 118480669 single base substitution C T 5_prime_UTR_variant BLCA-US 12 118480669 118480669 single base substitution C T downstream_gene_variant BLCA-US 12 118480669 118480669 single base substitution C T exon_variant BLCA-US 12 118480669 118480669 single base substitution C T intron_variant BLCA-US 12 118480669 118480669 single base substitution C T missense_variant R179H 536G>A BLCA-US 12 118480669 118480669 single base substitution C T missense_variant R181H 542G>A BLCA-US 12 118480669 118480669 single base substitution C T missense_variant R196H 587G>A BLCA-US 12 118490215 118490215 single base substitution C G 5_prime_UTR_variant BLCA-US 12 118490215 118490215 single base substitution C G exon_variant BLCA-US 12 118490215 118490215 single base substitution C G missense_variant E28Q 82G>C BLCA-US 12 118490215 118490215 single base substitution C G missense_variant E30Q 88G>C BLCA-US 12 118490215 118490215 single base substitution C G missense_variant E45Q 133G>C BRCA-EU 12 118466808 118466808 single base substitution C G downstream_gene_variant BRCA-EU 12 118469114 118469114 single base substitution G A downstream_gene_variant BRCA-EU 12 118469325 118469325 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 118469660 118469660 single base substitution G C downstream_gene_variant BRCA-EU 12 118470662 118470662 single base substitution A G downstream_gene_variant BRCA-EU 12 118473286 118473286 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 118473286 118473286 deletion of <=200bp A - intron_variant BRCA-EU 12 118473415 118473415 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 118473415 118473415 deletion of <=200bp T - intron_variant BRCA-EU 12 118474820 118474820 single base substitution C G intron_variant BRCA-EU 12 118475179 118475179 single base substitution G C intron_variant BRCA-EU 12 118477277 118477277 single base substitution C A downstream_gene_variant BRCA-EU 12 118477277 118477277 single base substitution C A intron_variant BRCA-EU 12 118477414 118477414 single base substitution G C downstream_gene_variant BRCA-EU 12 118477414 118477414 single base substitution G C intron_variant BRCA-EU 12 118477518 118477518 insertion of <=200bp - ATGG downstream_gene_variant BRCA-EU 12 118477518 118477518 insertion of <=200bp - ATGG intron_variant BRCA-EU 12 118478863 118478863 single base substitution C G downstream_gene_variant BRCA-EU 12 118478863 118478863 single base substitution C G intron_variant BRCA-EU 12 118483433 118483433 single base substitution C T intron_variant BRCA-EU 12 118483433 118483433 single base substitution C T upstream_gene_variant BRCA-EU 12 118484175 118484175 single base substitution G T intron_variant BRCA-EU 12 118484175 118484175 single base substitution G T upstream_gene_variant BRCA-EU 12 118484880 118484880 single base substitution A G intron_variant BRCA-EU 12 118484880 118484880 single base substitution A G upstream_gene_variant BRCA-EU 12 118485734 118485734 deletion of <=200bp T - intron_variant BRCA-EU 12 118486172 118486172 deletion of <=200bp C - intron_variant BRCA-EU 12 118487225 118487225 single base substitution G C intron_variant BRCA-EU 12 118487874 118487874 single base substitution G A intron_variant BRCA-EU 12 118487995 118487995 deletion of <=200bp A - intron_variant BRCA-EU 12 118489478 118489478 single base substitution A T intron_variant BRCA-EU 12 118492470 118492470 single base substitution G T intron_variant BRCA-EU 12 118492470 118492470 single base substitution G T upstream_gene_variant BRCA-EU 12 118493620 118493620 single base substitution A G intron_variant BRCA-EU 12 118493620 118493620 single base substitution A G upstream_gene_variant BRCA-EU 12 118493914 118493914 single base substitution C A intron_variant BRCA-EU 12 118493914 118493914 single base substitution C A upstream_gene_variant BRCA-EU 12 118493954 118493954 single base substitution C G intron_variant BRCA-EU 12 118493954 118493954 single base substitution C G upstream_gene_variant BRCA-EU 12 118495803 118495803 single base substitution G A intron_variant BRCA-EU 12 118495808 118495808 single base substitution C G intron_variant BRCA-EU 12 118498491 118498491 single base substitution C T intron_variant BRCA-EU 12 118499517 118499517 single base substitution C T intron_variant BRCA-EU 12 118499517 118499517 single base substitution C T upstream_gene_variant BRCA-EU 12 118502687 118502687 single base substitution C T upstream_gene_variant BRCA-EU 12 118504592 118504592 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 118504837 118504837 single base substitution A G upstream_gene_variant BRCA-FR 12 118466808 118466808 single base substitution C G downstream_gene_variant BRCA-FR 12 118474820 118474820 single base substitution C G intron_variant BRCA-FR 12 118487874 118487874 single base substitution G A intron_variant BRCA-FR 12 118489019 118489019 single base substitution G T intron_variant BRCA-FR 12 118492470 118492470 single base substitution G T intron_variant BRCA-FR 12 118492470 118492470 single base substitution G T upstream_gene_variant BRCA-UK 12 118497417 118497417 single base substitution C G intron_variant BRCA-US 12 118472017 118472017 single base substitution G T 3_prime_UTR_variant BRCA-US 12 118472017 118472017 single base substitution G T downstream_gene_variant BRCA-US 12 118472017 118472017 single base substitution G T missense_variant T175K 524C>A BRCA-US 12 118472017 118472017 single base substitution G T missense_variant T190K 569C>A BRCA-US 12 118472017 118472017 single base substitution G T missense_variant T400K 1199C>A BRCA-US 12 118472017 118472017 single base substitution G T missense_variant T402K 1205C>A BRCA-US 12 118472017 118472017 single base substitution G T missense_variant T417K 1250C>A BTCA-JP 12 118472748 118472748 single base substitution C T downstream_gene_variant BTCA-JP 12 118472748 118472748 single base substitution C T exon_variant BTCA-JP 12 118472748 118472748 single base substitution C T intron_variant BTCA-JP 12 118499911 118499911 single base substitution G A intron_variant BTCA-JP 12 118499911 118499911 single base substitution G A synonymous_variant V19V 57C>T BTCA-JP 12 118499911 118499911 single base substitution G A upstream_gene_variant CESC-US 12 118467597 118467597 single base substitution G A downstream_gene_variant CESC-US 12 118469182 118469182 single base substitution C G downstream_gene_variant CLLE-ES 12 118473467 118473467 single base substitution T A downstream_gene_variant CLLE-ES 12 118473467 118473467 single base substitution T A intron_variant COAD-US 12 118467596 118467596 single base substitution C T downstream_gene_variant COAD-US 12 118467631 118467631 single base substitution G A downstream_gene_variant COAD-US 12 118474208 118474208 single base substitution C T 3_prime_UTR_variant COAD-US 12 118474208 118474208 single base substitution C T downstream_gene_variant COAD-US 12 118474208 118474208 single base substitution C T exon_variant COAD-US 12 118474208 118474208 single base substitution C T synonymous_variant T256T 768G>A COAD-US 12 118474208 118474208 single base substitution C T synonymous_variant T258T 774G>A COAD-US 12 118474208 118474208 single base substitution C T synonymous_variant T273T 819G>A COAD-US 12 118474208 118474208 single base substitution C T synonymous_variant T31T 93G>A COAD-US 12 118474208 118474208 single base substitution C T synonymous_variant T46T 138G>A COAD-US 12 118474221 118474221 single base substitution G A 3_prime_UTR_variant COAD-US 12 118474221 118474221 single base substitution G A downstream_gene_variant COAD-US 12 118474221 118474221 single base substitution G A exon_variant COAD-US 12 118474221 118474221 single base substitution G A missense_variant A252V 755C>T COAD-US 12 118474221 118474221 single base substitution G A missense_variant A254V 761C>T COAD-US 12 118474221 118474221 single base substitution G A missense_variant A269V 806C>T COAD-US 12 118474221 118474221 single base substitution G A missense_variant A27V 80C>T COAD-US 12 118474221 118474221 single base substitution G A missense_variant A42V 125C>T COAD-US 12 118481127 118481127 single base substitution G A 5_prime_UTR_variant COAD-US 12 118481127 118481127 single base substitution G A exon_variant COAD-US 12 118481127 118481127 single base substitution G A intron_variant COAD-US 12 118481127 118481127 single base substitution G A missense_variant R80W 238C>T COAD-US 12 118481127 118481127 single base substitution G A missense_variant R82W 244C>T COAD-US 12 118481127 118481127 single base substitution G A missense_variant R97W 289C>T COAD-US 12 118481127 118481127 single base substitution G A upstream_gene_variant COAD-US 12 118490204 118490204 single base substitution G A 5_prime_UTR_variant COAD-US 12 118490204 118490204 single base substitution G A exon_variant COAD-US 12 118490204 118490204 single base substitution G A synonymous_variant S31S 93C>T COAD-US 12 118490204 118490204 single base substitution G A synonymous_variant S33S 99C>T COAD-US 12 118490204 118490204 single base substitution G A synonymous_variant S48S 144C>T COCA-CN 12 118467596 118467596 single base substitution C T downstream_gene_variant COCA-CN 12 118472005 118472005 single base substitution A C 3_prime_UTR_variant COCA-CN 12 118472005 118472005 single base substitution A C downstream_gene_variant COCA-CN 12 118472005 118472005 single base substitution A C missense_variant F179C 536T>G COCA-CN 12 118472005 118472005 single base substitution A C missense_variant F194C 581T>G COCA-CN 12 118472005 118472005 single base substitution A C missense_variant F404C 1211T>G COCA-CN 12 118472005 118472005 single base substitution A C missense_variant F406C 1217T>G COCA-CN 12 118472005 118472005 single base substitution A C missense_variant F421C 1262T>G COCA-CN 12 118474160 118474160 single base substitution T G 3_prime_UTR_variant COCA-CN 12 118474160 118474160 single base substitution T G downstream_gene_variant COCA-CN 12 118474160 118474160 single base substitution T G exon_variant COCA-CN 12 118474160 118474160 single base substitution T G intron_variant COCA-CN 12 118474160 118474160 single base substitution T G missense_variant E272D 816A>C COCA-CN 12 118474160 118474160 single base substitution T G missense_variant E274D 822A>C COCA-CN 12 118474160 118474160 single base substitution T G missense_variant E289D 867A>C COCA-CN 12 118474160 118474160 single base substitution T G missense_variant E47D 141A>C COCA-CN 12 118474160 118474160 single base substitution T G missense_variant E62D 186A>C ESAD-UK 12 118468208 118468208 single base substitution G A downstream_gene_variant ESAD-UK 12 118468614 118468614 single base substitution T C downstream_gene_variant ESAD-UK 12 118468689 118468689 single base substitution G A downstream_gene_variant ESAD-UK 12 118472888 118472888 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 118472888 118472888 single base substitution T C downstream_gene_variant ESAD-UK 12 118472888 118472888 single base substitution T C exon_variant ESAD-UK 12 118472888 118472888 single base substitution T C missense_variant I109V 325A>G ESAD-UK 12 118472888 118472888 single base substitution T C missense_variant I319V 955A>G ESAD-UK 12 118472888 118472888 single base substitution T C missense_variant I321V 961A>G ESAD-UK 12 118472888 118472888 single base substitution T C missense_variant I336V 1006A>G ESAD-UK 12 118472888 118472888 single base substitution T C missense_variant I94V 280A>G ESAD-UK 12 118473928 118473928 single base substitution A G downstream_gene_variant ESAD-UK 12 118473928 118473928 single base substitution A G intron_variant ESAD-UK 12 118474555 118474555 single base substitution C A intron_variant ESAD-UK 12 118476714 118476714 single base substitution G T downstream_gene_variant ESAD-UK 12 118476714 118476714 single base substitution G T intron_variant ESAD-UK 12 118476976 118476976 single base substitution G A downstream_gene_variant ESAD-UK 12 118476976 118476976 single base substitution G A intron_variant ESAD-UK 12 118478020 118478020 single base substitution C G downstream_gene_variant ESAD-UK 12 118478020 118478020 single base substitution C G intron_variant ESAD-UK 12 118480286 118480286 single base substitution G T downstream_gene_variant ESAD-UK 12 118480286 118480286 single base substitution G T intron_variant ESAD-UK 12 118480612 118480612 single base substitution T C downstream_gene_variant ESAD-UK 12 118480612 118480612 single base substitution T C exon_variant ESAD-UK 12 118480612 118480612 single base substitution T C intron_variant ESAD-UK 12 118482556 118482556 single base substitution G A intron_variant ESAD-UK 12 118482556 118482556 single base substitution G A upstream_gene_variant ESAD-UK 12 118482977 118482977 single base substitution C A intron_variant ESAD-UK 12 118482977 118482977 single base substitution C A upstream_gene_variant ESAD-UK 12 118484112 118484112 deletion of <=200bp A - intron_variant ESAD-UK 12 118484112 118484112 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 118484586 118484586 deletion of <=200bp T - intron_variant ESAD-UK 12 118484586 118484586 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 118484702 118484702 single base substitution G A intron_variant ESAD-UK 12 118484702 118484702 single base substitution G A upstream_gene_variant ESAD-UK 12 118485468 118485468 single base substitution T C intron_variant ESAD-UK 12 118485468 118485468 single base substitution T C upstream_gene_variant ESAD-UK 12 118485662 118485662 single base substitution T G intron_variant ESAD-UK 12 118485662 118485662 single base substitution T G upstream_gene_variant ESAD-UK 12 118485714 118485714 single base substitution T C intron_variant ESAD-UK 12 118486579 118486579 single base substitution A C intron_variant ESAD-UK 12 118486849 118486849 single base substitution C G intron_variant ESAD-UK 12 118488450 118488450 insertion of <=200bp - A intron_variant ESAD-UK 12 118488508 118488508 single base substitution A C intron_variant ESAD-UK 12 118490973 118490973 single base substitution C T intron_variant ESAD-UK 12 118490973 118490973 single base substitution C T upstream_gene_variant ESAD-UK 12 118492416 118492416 single base substitution A C intron_variant ESAD-UK 12 118492416 118492416 single base substitution A C upstream_gene_variant ESAD-UK 12 118492495 118492495 deletion of <=200bp T - intron_variant ESAD-UK 12 118492495 118492495 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 118498124 118498124 single base substitution A T intron_variant ESAD-UK 12 118502571 118502571 single base substitution G A upstream_gene_variant ESAD-UK 12 118503384 118503384 single base substitution G C upstream_gene_variant ESAD-UK 12 118504128 118504128 single base substitution A G upstream_gene_variant ESCA-CN 12 118472820 118472820 single base substitution A G 3_prime_UTR_variant ESCA-CN 12 118472820 118472820 single base substitution A G downstream_gene_variant ESCA-CN 12 118472820 118472820 single base substitution A G exon_variant ESCA-CN 12 118472820 118472820 single base substitution A G synonymous_variant F116F 348T>C ESCA-CN 12 118472820 118472820 single base substitution A G synonymous_variant F131F 393T>C ESCA-CN 12 118472820 118472820 single base substitution A G synonymous_variant F341F 1023T>C ESCA-CN 12 118472820 118472820 single base substitution A G synonymous_variant F343F 1029T>C ESCA-CN 12 118472820 118472820 single base substitution A G synonymous_variant F358F 1074T>C GBM-US 12 118490112 118490112 insertion of <=200bp - A intron_variant GBM-US 12 118490112 118490112 insertion of <=200bp - A splice_region_variant KIRC-US 12 118481141 118481141 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 12 118481141 118481141 single base substitution T A exon_variant KIRC-US 12 118481141 118481141 single base substitution T A intron_variant KIRC-US 12 118481141 118481141 single base substitution T A missense_variant N75I 224A>T KIRC-US 12 118481141 118481141 single base substitution T A missense_variant N77I 230A>T KIRC-US 12 118481141 118481141 single base substitution T A missense_variant N92I 275A>T KIRC-US 12 118481141 118481141 single base substitution T A upstream_gene_variant KIRC-US 12 118481144 118481144 single base substitution T A 5_prime_UTR_variant KIRC-US 12 118481144 118481144 single base substitution T A exon_variant KIRC-US 12 118481144 118481144 single base substitution T A intron_variant KIRC-US 12 118481144 118481144 single base substitution T A missense_variant K74I 221A>T KIRC-US 12 118481144 118481144 single base substitution T A missense_variant K76I 227A>T KIRC-US 12 118481144 118481144 single base substitution T A missense_variant K91I 272A>T KIRC-US 12 118481144 118481144 single base substitution T A upstream_gene_variant LICA-FR 12 118471353 118471353 deletion of <=200bp A - 3_prime_UTR_variant LICA-FR 12 118471353 118471353 deletion of <=200bp A - downstream_gene_variant LICA-FR 12 118471669 118471669 single base substitution T G 3_prime_UTR_variant LICA-FR 12 118471669 118471669 single base substitution T G downstream_gene_variant LICA-FR 12 118478460 118478460 deletion of <=200bp A - downstream_gene_variant LICA-FR 12 118478460 118478460 deletion of <=200bp A - intron_variant LICA-FR 12 118480740 118480740 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 12 118480740 118480740 single base substitution G A exon_variant LICA-FR 12 118480740 118480740 single base substitution G A intron_variant LICA-FR 12 118480740 118480740 single base substitution G A synonymous_variant V155V 465C>T LICA-FR 12 118480740 118480740 single base substitution G A synonymous_variant V157V 471C>T LICA-FR 12 118480740 118480740 single base substitution G A synonymous_variant V172V 516C>T LICA-FR 12 118480740 118480740 single base substitution G A upstream_gene_variant LICA-FR 12 118492821 118492821 insertion of <=200bp - A intron_variant LICA-FR 12 118492821 118492821 insertion of <=200bp - A upstream_gene_variant LIHC-US 12 118472835 118472835 single base substitution C G 3_prime_UTR_variant LIHC-US 12 118472835 118472835 single base substitution C G downstream_gene_variant LIHC-US 12 118472835 118472835 single base substitution C G exon_variant LIHC-US 12 118472835 118472835 single base substitution C G synonymous_variant G111G 333G>C LIHC-US 12 118472835 118472835 single base substitution C G synonymous_variant G126G 378G>C LIHC-US 12 118472835 118472835 single base substitution C G synonymous_variant G336G 1008G>C LIHC-US 12 118472835 118472835 single base substitution C G synonymous_variant G338G 1014G>C LIHC-US 12 118472835 118472835 single base substitution C G synonymous_variant G353G 1059G>C LIHC-US 12 118504496 118504496 single base substitution T C upstream_gene_variant LINC-JP 12 118469090 118469090 single base substitution T C downstream_gene_variant LINC-JP 12 118471833 118471833 single base substitution A G 3_prime_UTR_variant LINC-JP 12 118471833 118471833 single base substitution A G downstream_gene_variant LINC-JP 12 118471896 118471896 single base substitution A T 3_prime_UTR_variant LINC-JP 12 118471896 118471896 single base substitution A T downstream_gene_variant LINC-JP 12 118482753 118482779 deletion of <=200bp GTATTAATTGGTGCGAAAATAATTGCA - intron_variant LINC-JP 12 118482753 118482779 deletion of <=200bp GTATTAATTGGTGCGAAAATAATTGCA - upstream_gene_variant LINC-JP 12 118488780 118488780 single base substitution C A intron_variant LINC-JP 12 118501783 118501783 single base substitution C T upstream_gene_variant LIRI-JP 12 118466509 118466509 single base substitution A C downstream_gene_variant LIRI-JP 12 118466639 118466639 single base substitution A C downstream_gene_variant LIRI-JP 12 118466664 118466664 single base substitution A C downstream_gene_variant LIRI-JP 12 118468847 118468847 single base substitution T G downstream_gene_variant LIRI-JP 12 118471420 118471420 single base substitution T A 3_prime_UTR_variant LIRI-JP 12 118471420 118471420 single base substitution T A downstream_gene_variant LIRI-JP 12 118472426 118472429 deletion of <=200bp AGTT - downstream_gene_variant LIRI-JP 12 118472426 118472429 deletion of <=200bp AGTT - intron_variant LIRI-JP 12 118474517 118474517 deletion of <=200bp G - intron_variant LIRI-JP 12 118475397 118475397 single base substitution C A intron_variant LIRI-JP 12 118476642 118476642 single base substitution C T downstream_gene_variant LIRI-JP 12 118476642 118476642 single base substitution C T intron_variant LIRI-JP 12 118477044 118477044 single base substitution G A downstream_gene_variant LIRI-JP 12 118477044 118477044 single base substitution G A intron_variant LIRI-JP 12 118479423 118479423 single base substitution C G downstream_gene_variant LIRI-JP 12 118479423 118479423 single base substitution C G intron_variant LIRI-JP 12 118482128 118482128 single base substitution C T intron_variant LIRI-JP 12 118482128 118482128 single base substitution C T upstream_gene_variant LIRI-JP 12 118483224 118483224 single base substitution C T intron_variant LIRI-JP 12 118483224 118483224 single base substitution C T upstream_gene_variant LIRI-JP 12 118483910 118483910 single base substitution T A intron_variant LIRI-JP 12 118483910 118483910 single base substitution T A upstream_gene_variant LIRI-JP 12 118483911 118483911 single base substitution G C intron_variant LIRI-JP 12 118483911 118483911 single base substitution G C upstream_gene_variant LIRI-JP 12 118486035 118486035 single base substitution T C intron_variant LIRI-JP 12 118488039 118488039 single base substitution T C intron_variant LIRI-JP 12 118489054 118489054 single base substitution T C intron_variant LIRI-JP 12 118491119 118491119 single base substitution T C intron_variant LIRI-JP 12 118491119 118491119 single base substitution T C upstream_gene_variant LIRI-JP 12 118492064 118492064 single base substitution C T intron_variant LIRI-JP 12 118492064 118492064 single base substitution C T upstream_gene_variant LIRI-JP 12 118492344 118492344 single base substitution G A intron_variant LIRI-JP 12 118492344 118492344 single base substitution G A upstream_gene_variant LIRI-JP 12 118494610 118494610 single base substitution G A intron_variant LIRI-JP 12 118494610 118494610 single base substitution G A upstream_gene_variant LIRI-JP 12 118497430 118497430 single base substitution C T intron_variant LIRI-JP 12 118503540 118503540 single base substitution T G upstream_gene_variant LIRI-JP 12 118504480 118504480 single base substitution T G upstream_gene_variant LUSC-KR 12 118466632 118466632 single base substitution C G downstream_gene_variant LUSC-KR 12 118469993 118469993 single base substitution C A downstream_gene_variant LUSC-KR 12 118471047 118471047 single base substitution C T 3_prime_UTR_variant LUSC-KR 12 118471047 118471047 single base substitution C T downstream_gene_variant LUSC-KR 12 118471784 118471784 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 118471784 118471784 single base substitution G A downstream_gene_variant LUSC-KR 12 118472182 118472182 single base substitution C T downstream_gene_variant LUSC-KR 12 118472182 118472182 single base substitution C T intron_variant LUSC-KR 12 118472457 118472457 single base substitution C T downstream_gene_variant LUSC-KR 12 118472457 118472457 single base substitution C T intron_variant LUSC-KR 12 118475967 118475967 single base substitution T C downstream_gene_variant LUSC-KR 12 118475967 118475967 single base substitution T C intron_variant LUSC-KR 12 118476079 118476079 single base substitution C T downstream_gene_variant LUSC-KR 12 118476079 118476079 single base substitution C T intron_variant LUSC-KR 12 118477965 118477965 single base substitution G C downstream_gene_variant LUSC-KR 12 118477965 118477965 single base substitution G C intron_variant LUSC-KR 12 118478294 118478294 single base substitution G C downstream_gene_variant LUSC-KR 12 118478294 118478294 single base substitution G C intron_variant LUSC-KR 12 118480975 118480975 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 12 118480975 118480975 single base substitution G C exon_variant LUSC-KR 12 118480975 118480975 single base substitution G C intron_variant LUSC-KR 12 118480975 118480975 single base substitution G C synonymous_variant L130L 390C>G LUSC-KR 12 118480975 118480975 single base substitution G C synonymous_variant L132L 396C>G LUSC-KR 12 118480975 118480975 single base substitution G C synonymous_variant L147L 441C>G LUSC-KR 12 118480975 118480975 single base substitution G C upstream_gene_variant LUSC-KR 12 118482350 118482350 single base substitution C A intron_variant LUSC-KR 12 118482350 118482350 single base substitution C A upstream_gene_variant LUSC-KR 12 118484262 118484262 single base substitution A C intron_variant LUSC-KR 12 118484262 118484262 single base substitution A C upstream_gene_variant LUSC-KR 12 118486941 118486941 single base substitution A C intron_variant LUSC-KR 12 118491961 118491961 single base substitution G A intron_variant LUSC-KR 12 118491961 118491961 single base substitution G A upstream_gene_variant LUSC-KR 12 118492382 118492382 single base substitution G A intron_variant LUSC-KR 12 118492382 118492382 single base substitution G A upstream_gene_variant LUSC-KR 12 118497807 118497807 single base substitution G T intron_variant LUSC-KR 12 118501598 118501598 single base substitution G A upstream_gene_variant LUSC-US 12 118465787 118465787 single base substitution T A downstream_gene_variant MALY-DE 12 118470493 118470493 single base substitution T G downstream_gene_variant MALY-DE 12 118473055 118473055 single base substitution G A 3_prime_UTR_variant MALY-DE 12 118473055 118473055 single base substitution G A downstream_gene_variant MALY-DE 12 118473055 118473055 single base substitution G A exon_variant MALY-DE 12 118473055 118473055 single base substitution G A missense_variant P303L 908C>T MALY-DE 12 118473055 118473055 single base substitution G A missense_variant P305L 914C>T MALY-DE 12 118473055 118473055 single base substitution G A missense_variant P320L 959C>T MALY-DE 12 118473055 118473055 single base substitution G A missense_variant P78L 233C>T MALY-DE 12 118473055 118473055 single base substitution G A missense_variant P93L 278C>T MALY-DE 12 118475875 118475875 single base substitution C A downstream_gene_variant MALY-DE 12 118475875 118475875 single base substitution C A intron_variant MALY-DE 12 118478470 118478470 single base substitution A G downstream_gene_variant MALY-DE 12 118478470 118478470 single base substitution A G intron_variant MALY-DE 12 118478547 118478547 single base substitution A C downstream_gene_variant MALY-DE 12 118478547 118478547 single base substitution A C intron_variant MALY-DE 12 118493729 118493729 single base substitution T A intron_variant MALY-DE 12 118493729 118493729 single base substitution T A upstream_gene_variant MALY-DE 12 118498221 118498221 single base substitution C A intron_variant MALY-DE 12 118500455 118500455 single base substitution G C upstream_gene_variant MALY-DE 12 118501896 118501896 single base substitution T C upstream_gene_variant MALY-DE 12 118502357 118502357 single base substitution A G upstream_gene_variant MELA-AU 12 118466153 118466153 single base substitution G A downstream_gene_variant MELA-AU 12 118468641 118468641 single base substitution G T downstream_gene_variant MELA-AU 12 118469424 118469424 single base substitution G A downstream_gene_variant MELA-AU 12 118470336 118470336 single base substitution G A downstream_gene_variant MELA-AU 12 118470651 118470651 single base substitution C T downstream_gene_variant MELA-AU 12 118471005 118471006 multiple base substitution (>=2bp and <=200bp) GC AT 3_prime_UTR_variant MELA-AU 12 118471005 118471006 multiple base substitution (>=2bp and <=200bp) GC AT downstream_gene_variant MELA-AU 12 118471802 118471802 single base substitution C T 3_prime_UTR_variant MELA-AU 12 118471802 118471802 single base substitution C T downstream_gene_variant MELA-AU 12 118472088 118472088 single base substitution G A 3_prime_UTR_variant MELA-AU 12 118472088 118472088 single base substitution G A downstream_gene_variant MELA-AU 12 118472088 118472088 single base substitution G A synonymous_variant A151A 453C>T MELA-AU 12 118472088 118472088 single base substitution G A synonymous_variant A166A 498C>T MELA-AU 12 118472088 118472088 single base substitution G A synonymous_variant A376A 1128C>T MELA-AU 12 118472088 118472088 single base substitution G A synonymous_variant A378A 1134C>T MELA-AU 12 118472088 118472088 single base substitution G A synonymous_variant A393A 1179C>T MELA-AU 12 118472094 118472094 single base substitution C T 3_prime_UTR_variant MELA-AU 12 118472094 118472094 single base substitution C T downstream_gene_variant MELA-AU 12 118472094 118472094 single base substitution C T synonymous_variant R149R 447G>A MELA-AU 12 118472094 118472094 single base substitution C T synonymous_variant R164R 492G>A MELA-AU 12 118472094 118472094 single base substitution C T synonymous_variant R374R 1122G>A MELA-AU 12 118472094 118472094 single base substitution C T synonymous_variant R376R 1128G>A MELA-AU 12 118472094 118472094 single base substitution C T synonymous_variant R391R 1173G>A MELA-AU 12 118472253 118472253 single base substitution A G downstream_gene_variant MELA-AU 12 118472253 118472253 single base substitution A G intron_variant MELA-AU 12 118474027 118474027 single base substitution T G downstream_gene_variant MELA-AU 12 118474027 118474027 single base substitution T G intron_variant MELA-AU 12 118474093 118474093 single base substitution T A downstream_gene_variant MELA-AU 12 118474093 118474093 single base substitution T A intron_variant MELA-AU 12 118474202 118474202 single base substitution A C 3_prime_UTR_variant MELA-AU 12 118474202 118474202 single base substitution A C downstream_gene_variant MELA-AU 12 118474202 118474202 single base substitution A C exon_variant MELA-AU 12 118474202 118474202 single base substitution A C synonymous_variant S258S 774T>G MELA-AU 12 118474202 118474202 single base substitution A C synonymous_variant S260S 780T>G MELA-AU 12 118474202 118474202 single base substitution A C synonymous_variant S275S 825T>G MELA-AU 12 118474202 118474202 single base substitution A C synonymous_variant S33S 99T>G MELA-AU 12 118474202 118474202 single base substitution A C synonymous_variant S48S 144T>G MELA-AU 12 118475368 118475368 single base substitution G A intron_variant MELA-AU 12 118475931 118475931 single base substitution G C downstream_gene_variant MELA-AU 12 118475931 118475931 single base substitution G C intron_variant MELA-AU 12 118477402 118477402 single base substitution G A downstream_gene_variant MELA-AU 12 118477402 118477402 single base substitution G A intron_variant MELA-AU 12 118478528 118478528 single base substitution G A downstream_gene_variant MELA-AU 12 118478528 118478528 single base substitution G A intron_variant MELA-AU 12 118479505 118479505 single base substitution G A downstream_gene_variant MELA-AU 12 118479505 118479505 single base substitution G A intron_variant MELA-AU 12 118480005 118480005 single base substitution C T downstream_gene_variant MELA-AU 12 118480005 118480005 single base substitution C T intron_variant MELA-AU 12 118480387 118480387 single base substitution G A downstream_gene_variant MELA-AU 12 118480387 118480387 single base substitution G A intron_variant MELA-AU 12 118480670 118480670 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 118480670 118480670 single base substitution G A downstream_gene_variant MELA-AU 12 118480670 118480670 single base substitution G A exon_variant MELA-AU 12 118480670 118480670 single base substitution G A intron_variant MELA-AU 12 118480670 118480670 single base substitution G A missense_variant R179C 535C>T MELA-AU 12 118480670 118480670 single base substitution G A missense_variant R181C 541C>T MELA-AU 12 118480670 118480670 single base substitution G A missense_variant R196C 586C>T MELA-AU 12 118481054 118481054 single base substitution G A 5_prime_UTR_variant MELA-AU 12 118481054 118481054 single base substitution G A exon_variant MELA-AU 12 118481054 118481054 single base substitution G A intron_variant MELA-AU 12 118481054 118481054 single base substitution G A missense_variant S104F 311C>T MELA-AU 12 118481054 118481054 single base substitution G A missense_variant S106F 317C>T MELA-AU 12 118481054 118481054 single base substitution G A missense_variant S121F 362C>T MELA-AU 12 118481054 118481054 single base substitution G A upstream_gene_variant MELA-AU 12 118481117 118481117 single base substitution G T 5_prime_UTR_variant MELA-AU 12 118481117 118481117 single base substitution G T exon_variant MELA-AU 12 118481117 118481117 single base substitution G T intron_variant MELA-AU 12 118481117 118481117 single base substitution G T missense_variant P100Q 299C>A MELA-AU 12 118481117 118481117 single base substitution G T missense_variant P83Q 248C>A MELA-AU 12 118481117 118481117 single base substitution G T missense_variant P85Q 254C>A MELA-AU 12 118481117 118481117 single base substitution G T upstream_gene_variant MELA-AU 12 118482911 118482911 single base substitution G A intron_variant MELA-AU 12 118482911 118482911 single base substitution G A upstream_gene_variant MELA-AU 12 118486108 118486108 single base substitution T C intron_variant MELA-AU 12 118486123 118486123 single base substitution T C intron_variant MELA-AU 12 118486527 118486527 single base substitution C T intron_variant MELA-AU 12 118487909 118487909 single base substitution G T intron_variant MELA-AU 12 118488311 118488311 single base substitution T C intron_variant MELA-AU 12 118488355 118488355 single base substitution G A intron_variant MELA-AU 12 118488706 118488706 single base substitution A G intron_variant MELA-AU 12 118488784 118488784 single base substitution G A intron_variant MELA-AU 12 118489174 118489174 single base substitution A G intron_variant MELA-AU 12 118492402 118492402 single base substitution G A intron_variant MELA-AU 12 118492402 118492402 single base substitution G A upstream_gene_variant MELA-AU 12 118493672 118493672 single base substitution G A intron_variant MELA-AU 12 118493672 118493672 single base substitution G A upstream_gene_variant MELA-AU 12 118494614 118494614 single base substitution G A intron_variant MELA-AU 12 118494614 118494614 single base substitution G A upstream_gene_variant MELA-AU 12 118494829 118494829 single base substitution G A intron_variant MELA-AU 12 118494829 118494829 single base substitution G A upstream_gene_variant MELA-AU 12 118495357 118495358 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 118495357 118495358 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 118496037 118496038 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 118496659 118496659 single base substitution G A intron_variant MELA-AU 12 118499426 118499427 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 118499426 118499427 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 118499755 118499755 single base substitution C A intron_variant MELA-AU 12 118499755 118499755 single base substitution C A upstream_gene_variant MELA-AU 12 118499782 118499782 single base substitution G A intron_variant MELA-AU 12 118499782 118499782 single base substitution G A upstream_gene_variant MELA-AU 12 118500081 118500081 single base substitution C T intron_variant MELA-AU 12 118500081 118500081 single base substitution C T upstream_gene_variant MELA-AU 12 118500792 118500792 single base substitution C T upstream_gene_variant MELA-AU 12 118501475 118501475 single base substitution C T upstream_gene_variant MELA-AU 12 118502315 118502315 single base substitution C T upstream_gene_variant MELA-AU 12 118502342 118502342 single base substitution G A upstream_gene_variant MELA-AU 12 118502681 118502681 single base substitution C T upstream_gene_variant MELA-AU 12 118503301 118503301 single base substitution G C upstream_gene_variant MELA-AU 12 118503320 118503320 single base substitution G T upstream_gene_variant MELA-AU 12 118504414 118504414 single base substitution G A upstream_gene_variant MELA-AU 12 118504509 118504510 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 118504613 118504613 single base substitution G T upstream_gene_variant ORCA-IN 12 118485422 118485422 single base substitution G T intron_variant ORCA-IN 12 118485422 118485422 single base substitution G T upstream_gene_variant ORCA-IN 12 118490608 118490608 single base substitution G C intron_variant ORCA-IN 12 118490608 118490608 single base substitution G C upstream_gene_variant ORCA-IN 12 118490934 118490934 single base substitution C G intron_variant ORCA-IN 12 118490934 118490934 single base substitution C G upstream_gene_variant ORCA-IN 12 118504836 118504836 single base substitution C G upstream_gene_variant OV-AU 12 118472386 118472386 single base substitution C G downstream_gene_variant OV-AU 12 118472386 118472386 single base substitution C G intron_variant OV-AU 12 118474841 118474841 single base substitution G T intron_variant OV-AU 12 118480264 118480264 single base substitution T C downstream_gene_variant OV-AU 12 118480264 118480264 single base substitution T C intron_variant OV-AU 12 118493741 118493741 single base substitution A T intron_variant OV-AU 12 118493741 118493741 single base substitution A T upstream_gene_variant OV-AU 12 118497346 118497346 single base substitution T C intron_variant OV-AU 12 118498702 118498702 single base substitution C T intron_variant OV-AU 12 118499531 118499531 single base substitution G A intron_variant OV-AU 12 118499531 118499531 single base substitution G A upstream_gene_variant OV-AU 12 118501315 118501315 single base substitution G C upstream_gene_variant PACA-AU 12 118472130 118472130 single base substitution A G 3_prime_UTR_variant PACA-AU 12 118472130 118472130 single base substitution A G downstream_gene_variant PACA-AU 12 118472130 118472130 single base substitution A G synonymous_variant A137A 411T>C PACA-AU 12 118472130 118472130 single base substitution A G synonymous_variant A152A 456T>C PACA-AU 12 118472130 118472130 single base substitution A G synonymous_variant A362A 1086T>C PACA-AU 12 118472130 118472130 single base substitution A G synonymous_variant A364A 1092T>C PACA-AU 12 118472130 118472130 single base substitution A G synonymous_variant A379A 1137T>C PACA-AU 12 118475662 118475662 deletion of <=200bp T - downstream_gene_variant PACA-AU 12 118475662 118475662 deletion of <=200bp T - intron_variant PACA-AU 12 118477377 118477377 single base substitution G C downstream_gene_variant PACA-AU 12 118477377 118477377 single base substitution G C intron_variant PACA-AU 12 118484881 118484881 single base substitution T A intron_variant PACA-AU 12 118484881 118484881 single base substitution T A upstream_gene_variant PACA-AU 12 118485870 118485870 single base substitution C T intron_variant PACA-AU 12 118489913 118489913 deletion of <=200bp A - intron_variant PACA-AU 12 118491484 118491484 single base substitution T G intron_variant PACA-AU 12 118491484 118491484 single base substitution T G upstream_gene_variant PACA-AU 12 118493729 118493729 single base substitution T A intron_variant PACA-AU 12 118493729 118493729 single base substitution T A upstream_gene_variant PACA-AU 12 118503587 118503587 single base substitution G A upstream_gene_variant PACA-CA 12 118469675 118469675 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 118475763 118475763 single base substitution C G downstream_gene_variant PACA-CA 12 118475763 118475763 single base substitution C G intron_variant PACA-CA 12 118478022 118478028 deletion of <=200bp GGGTGCT - downstream_gene_variant PACA-CA 12 118478022 118478028 deletion of <=200bp GGGTGCT - intron_variant PACA-CA 12 118479264 118479264 single base substitution G A downstream_gene_variant PACA-CA 12 118479264 118479264 single base substitution G A intron_variant PACA-CA 12 118479542 118479542 single base substitution C G downstream_gene_variant PACA-CA 12 118479542 118479542 single base substitution C G intron_variant PACA-CA 12 118481105 118481105 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 12 118481105 118481105 single base substitution G A exon_variant PACA-CA 12 118481105 118481105 single base substitution G A intron_variant PACA-CA 12 118481105 118481105 single base substitution G A missense_variant T104M 311C>T PACA-CA 12 118481105 118481105 single base substitution G A missense_variant T87M 260C>T PACA-CA 12 118481105 118481105 single base substitution G A missense_variant T89M 266C>T PACA-CA 12 118481105 118481105 single base substitution G A upstream_gene_variant PACA-CA 12 118481973 118481973 single base substitution A G intron_variant PACA-CA 12 118481973 118481973 single base substitution A G upstream_gene_variant PACA-CA 12 118487410 118487410 single base substitution G A intron_variant PACA-CA 12 118488510 118488510 single base substitution G A intron_variant PACA-CA 12 118490474 118490474 single base substitution C T intron_variant PACA-CA 12 118490474 118490474 single base substitution C T upstream_gene_variant PACA-CA 12 118495741 118495741 single base substitution A T intron_variant PACA-CA 12 118498256 118498256 single base substitution G A intron_variant PAEN-AU 12 118489215 118489215 single base substitution T C intron_variant PAEN-IT 12 118469475 118469475 single base substitution A T downstream_gene_variant PBCA-DE 12 118466135 118466135 deletion of <=200bp A - downstream_gene_variant PBCA-DE 12 118495922 118495922 single base substitution A C intron_variant PBCA-DE 12 118497936 118497936 single base substitution C A intron_variant PBCA-DE 12 118499201 118499201 single base substitution T G intron_variant PBCA-DE 12 118499201 118499201 single base substitution T G upstream_gene_variant PRAD-CA 12 118482764 118482764 single base substitution T C intron_variant PRAD-CA 12 118482764 118482764 single base substitution T C upstream_gene_variant PRAD-CA 12 118484938 118484938 single base substitution G C intron_variant PRAD-CA 12 118484938 118484938 single base substitution G C upstream_gene_variant PRAD-UK 12 118466295 118466295 single base substitution A C downstream_gene_variant PRAD-UK 12 118467716 118467716 single base substitution G T downstream_gene_variant PRAD-UK 12 118480229 118480229 single base substitution C A downstream_gene_variant PRAD-UK 12 118480229 118480229 single base substitution C A intron_variant PRAD-UK 12 118484034 118484037 deletion of <=200bp GGCG - intron_variant PRAD-UK 12 118484034 118484037 deletion of <=200bp GGCG - upstream_gene_variant PRAD-UK 12 118488476 118488476 single base substitution T C intron_variant PRAD-UK 12 118494357 118494357 single base substitution G A intron_variant PRAD-UK 12 118494357 118494357 single base substitution G A upstream_gene_variant PRAD-US 12 118472080 118472080 single base substitution C G 3_prime_UTR_variant PRAD-US 12 118472080 118472080 single base substitution C G downstream_gene_variant PRAD-US 12 118472080 118472080 single base substitution C G missense_variant S154T 461G>C PRAD-US 12 118472080 118472080 single base substitution C G missense_variant S169T 506G>C PRAD-US 12 118472080 118472080 single base substitution C G missense_variant S379T 1136G>C PRAD-US 12 118472080 118472080 single base substitution C G missense_variant S381T 1142G>C PRAD-US 12 118472080 118472080 single base substitution C G missense_variant S396T 1187G>C PRAD-US 12 118474220 118474220 single base substitution G C 3_prime_UTR_variant PRAD-US 12 118474220 118474220 single base substitution G C downstream_gene_variant PRAD-US 12 118474220 118474220 single base substitution G C exon_variant PRAD-US 12 118474220 118474220 single base substitution G C synonymous_variant A252A 756C>G PRAD-US 12 118474220 118474220 single base substitution G C synonymous_variant A254A 762C>G PRAD-US 12 118474220 118474220 single base substitution G C synonymous_variant A269A 807C>G PRAD-US 12 118474220 118474220 single base substitution G C synonymous_variant A27A 81C>G PRAD-US 12 118474220 118474220 single base substitution G C synonymous_variant A42A 126C>G READ-US 12 118481007 118481007 single base substitution C T 5_prime_UTR_variant READ-US 12 118481007 118481007 single base substitution C T exon_variant READ-US 12 118481007 118481007 single base substitution C T intron_variant READ-US 12 118481007 118481007 single base substitution C T missense_variant D120N 358G>A READ-US 12 118481007 118481007 single base substitution C T missense_variant D122N 364G>A READ-US 12 118481007 118481007 single base substitution C T missense_variant D137N 409G>A READ-US 12 118481007 118481007 single base substitution C T upstream_gene_variant READ-US 12 118490150 118490150 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant READ-US 12 118490150 118490150 single base substitution G A exon_variant READ-US 12 118490150 118490150 single base substitution G A synonymous_variant I49I 147C>T READ-US 12 118490150 118490150 single base substitution G A synonymous_variant I51I 153C>T READ-US 12 118490150 118490150 single base substitution G A synonymous_variant I66I 198C>T RECA-EU 12 118481597 118481597 single base substitution C A intron_variant RECA-EU 12 118481597 118481597 single base substitution C A upstream_gene_variant RECA-EU 12 118500094 118500094 single base substitution G A intron_variant RECA-EU 12 118500094 118500094 single base substitution G A upstream_gene_variant RECA-EU 12 118502331 118502331 single base substitution T A upstream_gene_variant SKCA-BR 12 118466288 118466288 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 12 118473115 118473115 single base substitution T G 3_prime_UTR_variant SKCA-BR 12 118473115 118473115 single base substitution T G downstream_gene_variant SKCA-BR 12 118473115 118473115 single base substitution T G exon_variant SKCA-BR 12 118473115 118473115 single base substitution T G missense_variant D283A 848A>C SKCA-BR 12 118473115 118473115 single base substitution T G missense_variant D285A 854A>C SKCA-BR 12 118473115 118473115 single base substitution T G missense_variant D300A 899A>C SKCA-BR 12 118473115 118473115 single base substitution T G missense_variant D58A 173A>C SKCA-BR 12 118473115 118473115 single base substitution T G missense_variant D73A 218A>C SKCA-BR 12 118478459 118478459 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 12 118478459 118478459 insertion of <=200bp - CA intron_variant SKCA-BR 12 118482687 118482687 single base substitution G A intron_variant SKCA-BR 12 118482687 118482687 single base substitution G A upstream_gene_variant SKCA-BR 12 118483169 118483169 insertion of <=200bp - CA intron_variant SKCA-BR 12 118483169 118483169 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 12 118483519 118483520 deletion of <=200bp GA - intron_variant SKCA-BR 12 118483519 118483520 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 12 118484271 118484273 deletion of <=200bp CAA - intron_variant SKCA-BR 12 118484271 118484273 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 12 118486387 118486388 deletion of <=200bp CA - intron_variant SKCA-BR 12 118501124 118501124 single base substitution C A upstream_gene_variant SKCA-BR 12 118503738 118503738 single base substitution G A upstream_gene_variant SKCM-US 12 118474166 118474166 single base substitution G A 3_prime_UTR_variant SKCM-US 12 118474166 118474166 single base substitution G A downstream_gene_variant SKCM-US 12 118474166 118474166 single base substitution G A exon_variant SKCM-US 12 118474166 118474166 single base substitution G A intron_variant SKCM-US 12 118474166 118474166 single base substitution G A synonymous_variant T270T 810C>T SKCM-US 12 118474166 118474166 single base substitution G A synonymous_variant T272T 816C>T SKCM-US 12 118474166 118474166 single base substitution G A synonymous_variant T287T 861C>T SKCM-US 12 118474166 118474166 single base substitution G A synonymous_variant T45T 135C>T SKCM-US 12 118474166 118474166 single base substitution G A synonymous_variant T60T 180C>T SKCM-US 12 118481179 118481179 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 12 118481179 118481179 single base substitution G C exon_variant SKCM-US 12 118481179 118481179 single base substitution G C intron_variant SKCM-US 12 118481179 118481179 single base substitution G C missense_variant I62M 186C>G SKCM-US 12 118481179 118481179 single base substitution G C missense_variant I64M 192C>G SKCM-US 12 118481179 118481179 single base substitution G C missense_variant I79M 237C>G SKCM-US 12 118481179 118481179 single base substitution G C upstream_gene_variant STAD-US 12 118467596 118467596 single base substitution C T downstream_gene_variant STAD-US 12 118473035 118473035 single base substitution T C 3_prime_UTR_variant STAD-US 12 118473035 118473035 single base substitution T C downstream_gene_variant STAD-US 12 118473035 118473035 single base substitution T C exon_variant STAD-US 12 118473035 118473035 single base substitution T C missense_variant T100A 298A>G STAD-US 12 118473035 118473035 single base substitution T C missense_variant T310A 928A>G STAD-US 12 118473035 118473035 single base substitution T C missense_variant T312A 934A>G STAD-US 12 118473035 118473035 single base substitution T C missense_variant T327A 979A>G STAD-US 12 118473035 118473035 single base substitution T C missense_variant T85A 253A>G STAD-US 12 118474213 118474213 single base substitution C T 3_prime_UTR_variant STAD-US 12 118474213 118474213 single base substitution C T downstream_gene_variant STAD-US 12 118474213 118474213 single base substitution C T exon_variant STAD-US 12 118474213 118474213 single base substitution C T missense_variant V255I 763G>A STAD-US 12 118474213 118474213 single base substitution C T missense_variant V257I 769G>A STAD-US 12 118474213 118474213 single base substitution C T missense_variant V272I 814G>A STAD-US 12 118474213 118474213 single base substitution C T missense_variant V30I 88G>A STAD-US 12 118474213 118474213 single base substitution C T missense_variant V45I 133G>A STAD-US 12 118474278 118474278 single base substitution C T 3_prime_UTR_variant STAD-US 12 118474278 118474278 single base substitution C T exon_variant STAD-US 12 118474278 118474278 single base substitution C T missense_variant R233Q 698G>A STAD-US 12 118474278 118474278 single base substitution C T missense_variant R235Q 704G>A STAD-US 12 118474278 118474278 single base substitution C T missense_variant R23Q 68G>A STAD-US 12 118474278 118474278 single base substitution C T missense_variant R250Q 749G>A STAD-US 12 118474278 118474278 single base substitution C T missense_variant R8Q 23G>A STAD-US 12 118476183 118476183 single base substitution A C 3_prime_UTR_variant STAD-US 12 118476183 118476183 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 12 118476183 118476183 single base substitution A C downstream_gene_variant STAD-US 12 118476183 118476183 single base substitution A C exon_variant STAD-US 12 118476183 118476183 single base substitution A C intron_variant STAD-US 12 118476183 118476183 single base substitution A C missense_variant I190M 570T>G STAD-US 12 118476183 118476183 single base substitution A C missense_variant I192M 576T>G STAD-US 12 118476183 118476183 single base substitution A C missense_variant I207M 621T>G STAD-US 12 118480690 118480690 single base substitution G A 5_prime_UTR_variant STAD-US 12 118480690 118480690 single base substitution G A exon_variant STAD-US 12 118480690 118480690 single base substitution G A intron_variant STAD-US 12 118480690 118480690 single base substitution G A missense_variant A172V 515C>T STAD-US 12 118480690 118480690 single base substitution G A missense_variant A174V 521C>T STAD-US 12 118480690 118480690 single base substitution G A missense_variant A189V 566C>T STAD-US 12 118480690 118480690 single base substitution G A upstream_gene_variant STAD-US 12 118480755 118480755 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 12 118480755 118480755 single base substitution G A exon_variant STAD-US 12 118480755 118480755 single base substitution G A intron_variant STAD-US 12 118480755 118480755 single base substitution G A synonymous_variant S150S 450C>T STAD-US 12 118480755 118480755 single base substitution G A synonymous_variant S152S 456C>T STAD-US 12 118480755 118480755 single base substitution G A synonymous_variant S167S 501C>T STAD-US 12 118480755 118480755 single base substitution G A upstream_gene_variant STAD-US 12 118480940 118480940 single base substitution G C intron_variant STAD-US 12 118480940 118480940 single base substitution G C missense_variant T142R 425C>G STAD-US 12 118480940 118480940 single base substitution G C missense_variant T144R 431C>G STAD-US 12 118480940 118480940 single base substitution G C missense_variant T159R 476C>G STAD-US 12 118480940 118480940 single base substitution G C splice_region_variant STAD-US 12 118480940 118480940 single base substitution G C upstream_gene_variant STAD-US 12 118481123 118481123 deletion of <=200bp C - 5_prime_UTR_variant STAD-US 12 118481123 118481123 deletion of <=200bp C - exon_variant STAD-US 12 118481123 118481123 deletion of <=200bp C - frameshift_variant G81 STAD-US 12 118481123 118481123 deletion of <=200bp C - frameshift_variant G83 STAD-US 12 118481123 118481123 deletion of <=200bp C - frameshift_variant G98 STAD-US 12 118481123 118481123 deletion of <=200bp C - intron_variant STAD-US 12 118481123 118481123 deletion of <=200bp C - upstream_gene_variant STAD-US 12 118490136 118490136 single base substitution G T 5_prime_UTR_variant STAD-US 12 118490136 118490136 single base substitution G T exon_variant STAD-US 12 118490136 118490136 single base substitution G T missense_variant P54H 161C>A STAD-US 12 118490136 118490136 single base substitution G T missense_variant P56H 167C>A STAD-US 12 118490136 118490136 single base substitution G T missense_variant P71H 212C>A THCA-SA 12 118465820 118465820 single base substitution T C downstream_gene_variant THCA-SA 12 118474238 118474238 single base substitution G A 3_prime_UTR_variant THCA-SA 12 118474238 118474238 single base substitution G A downstream_gene_variant THCA-SA 12 118474238 118474238 single base substitution G A exon_variant THCA-SA 12 118474238 118474238 single base substitution G A synonymous_variant D21D 63C>T THCA-SA 12 118474238 118474238 single base substitution G A synonymous_variant D246D 738C>T THCA-SA 12 118474238 118474238 single base substitution G A synonymous_variant D248D 744C>T THCA-SA 12 118474238 118474238 single base substitution G A synonymous_variant D263D 789C>T THCA-SA 12 118474238 118474238 single base substitution G A synonymous_variant D36D 108C>T THCA-SA 12 118502113 118502113 single base substitution T C upstream_gene_variant UCEC-US 12 118467597 118467597 single base substitution G A downstream_gene_variant UCEC-US 12 118474162 118474162 single base substitution C T 3_prime_UTR_variant UCEC-US 12 118474162 118474162 single base substitution C T downstream_gene_variant UCEC-US 12 118474162 118474162 single base substitution C T exon_variant UCEC-US 12 118474162 118474162 single base substitution C T intron_variant UCEC-US 12 118474162 118474162 single base substitution C T missense_variant E272K 814G>A UCEC-US 12 118474162 118474162 single base substitution C T missense_variant E274K 820G>A UCEC-US 12 118474162 118474162 single base substitution C T missense_variant E289K 865G>A UCEC-US 12 118474162 118474162 single base substitution C T missense_variant E47K 139G>A UCEC-US 12 118474162 118474162 single base substitution C T missense_variant E62K 184G>A UCEC-US 12 118476093 118476093 single base substitution C T downstream_gene_variant UCEC-US 12 118476093 118476093 single base substitution C T intron_variant UCEC-US 12 118476093 118476093 single base substitution C T splice_region_variant UCEC-US 12 118476094 118476094 single base substitution G A downstream_gene_variant UCEC-US 12 118476094 118476094 single base substitution G A intron_variant UCEC-US 12 118476094 118476094 single base substitution G A missense_variant S10L 29C>T UCEC-US 12 118476094 118476094 single base substitution G A missense_variant S220L 659C>T UCEC-US 12 118476094 118476094 single base substitution G A missense_variant S222L 665C>T UCEC-US 12 118476094 118476094 single base substitution G A missense_variant S237L 710C>T UCEC-US 12 118476094 118476094 single base substitution G A splice_region_variant UCEC-US 12 118480745 118480745 single base substitution C A 5_prime_UTR_variant UCEC-US 12 118480745 118480745 single base substitution C A exon_variant UCEC-US 12 118480745 118480745 single base substitution C A intron_variant UCEC-US 12 118480745 118480745 single base substitution C A missense_variant D154Y 460G>T UCEC-US 12 118480745 118480745 single base substitution C A missense_variant D156Y 466G>T UCEC-US 12 118480745 118480745 single base substitution C A missense_variant D171Y 511G>T UCEC-US 12 118480745 118480745 single base substitution C A upstream_gene_variant UCEC-US 12 118504457 118504459 deletion of <=200bp TCT - upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B66-Tumor COSM1746778 c.76A>T p.S26C Substitution - Missense 12:118052416-118052416 - ESO-118 COSM1270531 c.951C>T p.L317L Substitution - coding silent 12:118035087-118035087 - S02378 COSM5697451 c.871G>A p.V291I Substitution - Missense 12:118035287-118035287 - T204 COSM4741470 c.901T>C p.F301L Substitution - Missense 12:118035257-118035257 - SC_9047 COSM5557750 c.554A>G p.K185R Substitution - Missense 12:118042846-118042846 - ESCC_164 COSM5648172 c.856A>T p.M286L Substitution - Missense 12:118035302-118035302 - TCGA-D3-A3MR-06 COSM3456796 c.186C>G p.I62M Substitution - Missense 12:118043374-118043374 - TCGA-AD-6889-01 COSM1359172 c.93C>T p.S31S Substitution - coding silent 12:118052399-118052399 - LP6005409-DNA_H01 COSM4410035 c.955A>G p.I319V Substitution - Missense 12:118035083-118035083 - TCGA-BR-6452-01 COSM4039176 c.928A>G p.T310A Substitution - Missense 12:118035230-118035230 - TCGA-F4-6570-01 COSM1359169 c.755C>T p.A252V Substitution - Missense 12:118036416-118036416 - pfg121T COSM4760561 c.1171A>G p.I391V Substitution - Missense 12:118034240-118034240 - STC291 COSM5051381 c.429G>A p.G143G Substitution - coding silent 12:118042971-118042971 - TCGA-AX-A0J0-01 COSM935673 c.659C>T p.S220L Substitution - Missense 12:118038289-118038289 - C086 COSM5541804 c.75C>T p.S25S Substitution - coding silent 12:118052417-118052417 - TCGA-F1-6177-01 COSM4039180 c.515C>T p.A172V Substitution - Missense 12:118042885-118042885 - TCGA-CZ-5460-01 COSM467868 c.221A>T p.K74I Substitution - Missense 12:118043339-118043339 - TCGA-A3-3316-01 COSM1492807 c.812G>A p.G271D Substitution - Missense 12:118036359-118036359 - B66 COSM1746778 c.76A>T p.S26C Substitution - Missense 12:118052416-118052416 - CHC155T COSM3667098 c.465C>T p.V155V Substitution - coding silent 12:118042935-118042935 - HN_62854 COSM128495 c.417G>A p.E139E Substitution - coding silent 12:118043143-118043143 - J74_T COSM3954249 c.390C>G p.L130L Substitution - coding silent 12:118043170-118043170 - MedB-1 COSM2173798 c.331T>C p.W111R Substitution - Missense 12:118043229-118043229 - TCGA-BR-7703-01 COSM4039178 c.698G>A p.R233Q Substitution - Missense 12:118036473-118036473 - TCGA-BG-A0MQ-01 COSM935671 c.814G>A p.E272K Substitution - Missense 12:118036357-118036357 - 1517_PT COSM5753872 c.31G>A p.A11T Substitution - Missense 12:118052461-118052461 - TCGA-23-1032-01 COSM80752 c.1170A>G p.P390P Substitution - coding silent 12:118034241-118034241 - CHC155T COSM3667098 c.465C>T p.V155V Substitution - coding silent 12:118042935-118042935 - TCGA-A6-5665-01 COSM1359171 c.238C>T p.R80W Substitution - Missense 12:118043322-118043322 - WA56 COSM238449 c.183-5C>G p.? Unknown 12:118043382-118043382 - TCGA-CK-5913-01 COSM1359168 c.768G>A p.T256T Substitution - coding silent 12:118036403-118036403 - TCGA-AR-A0U3-01 COSM430452 c.1199C>A p.T400K Substitution - Missense 12:118034212-118034212 - T2987 COSM202009 c.231G>A p.T77T Substitution - coding silent 12:118043329-118043329 - T55 COSM4741471 c.834-1G>T p.? Unknown 12:118035325-118035325 - 8016470 COSM3384078 c.1086T>C p.A362A Substitution - coding silent 12:118034325-118034325 - ZZUFHECRKL-G057T COSM5445496 c.1023T>C p.F341F Substitution - coding silent 12:118035015-118035015 - TCGA-BR-8589-01 COSM4039179 c.570T>G p.I190M Substitution - Missense 12:118038378-118038378 - TCGA-BR-A4QM-01 COSM4039183 c.161C>A p.P54H Substitution - Missense 12:118052331-118052331 - Pat_41_B COSM5840280 c.769G>A p.A257T Substitution - Missense 12:118036402-118036402 - LUAD-CHTN-MAD06-00668 COSM358756 c.428-1G>A p.? Unknown 12:118042973-118042973 - TCGA-AF-5654-01 COSM1561816 c.147C>T p.I49I Substitution - coding silent 12:118052345-118052345 - H1155 COSM1195993 c.463G>A p.V155I Substitution - Missense 12:118042937-118042937 - SJDES007-R2 COSM3416527 c.358G>A p.D120N Substitution - Missense 12:118043202-118043202 - I2L-P24Ta-Tumor-Biopsy COSM5361690 c.1029A>C p.P343P Substitution - coding silent 12:118035009-118035009 - 169 COSM3730055 c.661-2A>G p.? Unknown 12:118036512-118036512 - 1N55-VS-1T55 COSM4977069 c.663C>G p.V221V Substitution - coding silent 12:118036508-118036508 - TCGA-B5-A0K9-01 COSM935670 c.1068C>T p.H356H Substitution - coding silent 12:118034343-118034343 - TCGA-GV-A3QH-01 COSM1298969 c.536G>A p.R179H Substitution - Missense 12:118042864-118042864 - SJDES007-R1 COSM3416527 c.358G>A p.D120N Substitution - Missense 12:118043202-118043202 - TCGA-FC-A6HD-01 COSM3670985 c.756C>G p.A252A Substitution - coding silent 12:118036415-118036415 - TCGA-KK-A59X-01 COSM4877737 c.1136G>C p.S379T Substitution - Missense 12:118034275-118034275 - I2L-P24Tb-Tumor-Biopsy COSM5361690 c.1029A>C p.P343P Substitution - coding silent 12:118035009-118035009 - ESO-717 COSM1243003 c.634C>A p.L212M Substitution - Missense 12:118038314-118038314 - 19 COSM5747452 c.230C>T p.T77M Substitution - Missense 12:118043330-118043330 - cSCCP4 COSM138900 c.809C>T p.T270I Substitution - Missense 12:118036362-118036362 - YUMER COSM1706343 c.1048A>T p.T350S Substitution - Missense 12:118034990-118034990 - TCGA-DK-A3IS-01 COSM1298970 c.82G>C p.E28Q Substitution - Missense 12:118052410-118052410 - TCGA-ES-A2HS-01 COSM4910557 c.1008G>C p.G336G Substitution - coding silent 12:118035030-118035030 - I2L-P24Tb-Tumor-Organoid COSM5361690 c.1029A>C p.P343P Substitution - coding silent 12:118035009-118035009 - TCGA-BR-8368-01 COSM4039181 c.450C>T p.S150S Substitution - coding silent 12:118042950-118042950 - ESCC_159 COSM5647018 c.970C>A p.L324M Substitution - Missense 12:118035068-118035068 - I2L-P24Ta-Tumor-Organoid COSM5361690 c.1029A>C p.P343P Substitution - coding silent 12:118035009-118035009 - TCGA-G9-6365-01 COSM1127539 c.470G>T p.R157I Substitution - Missense 12:118042930-118042930 - TCGA-B5-A0JY-01 COSM935674 c.460G>T p.D154Y Substitution - Missense 12:118042940-118042940 - TCGA-CZ-5460-01 COSM467867 c.224A>T p.N75I Substitution - Missense 12:118043336-118043336 - TCGA-CG-4437-01 COSM4039182 c.425C>G p.T142R Substitution - Missense 12:118043135-118043135 - 12-P279 COSM2173793 c.810C>T p.T270T Substitution - coding silent 12:118036361-118036361 - 587376 COSM1232860 c.121T>C p.F41L Substitution - Missense 12:118052371-118052371 - TCGA-CG-5723-01 COSM4039177 c.763G>A p.V255I Substitution - Missense 12:118036408-118036408 - T55 COSM4741472 c.353T>C p.V118A Substitution - Missense 12:118043207-118043207 - TCGA-AP-A0LM-01 COSM935672 c.660G>A p.S220S Substitution - coding silent 12:118038288-118038288 - TCGA-EB-A431-01 COSM2173793 c.810C>T p.T270T Substitution - coding silent 12:118036361-118036361 - TCGA-G2-A3VY-01 COSM3792228 c.624C>G p.D208E Substitution - Missense 12:118038324-118038324 - TCGA-F5-6814-01 COSM3416527 c.358G>A p.D120N Substitution - Missense 12:118043202-118043202 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.506985 12q24.23 2448547|CGAP|BC015887|A/G|coding|Pro303Pro|961|Validated; 2448549|CGAP|BC015887|A/C|non-coding||2543|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A SpliceDonorInsertion . c.182+2dupT 12 118490113 GBM C A Missense p.R157I c.470G>T 12 118480735 PRAD C G Missense p.E28Q c.82G>C 12 118490215 BLCA C G Missense p.S379T c.1136G>C 12 118472080 PRAD C T IntronicSNV . c.560-1997G>A 12 118478190 BRCA C T Missense p.E272K c.814G>A 12 118474162 UCEC C T Missense p.R179H c.536G>A 12 118480669 BLCA C T Synonymous p.E139E c.417G>A 12 118480948 HNSC G A Missense p.A172V c.515C>T 12 118480690 STAD G A Synonymous p.I53I c.159C>T 12 118490138 CM G A Synonymous p.L317L c.951C>T 12 118472892 ESCA G C Missense p.I62M c.186C>G 12 118481179 CM G C Missense p.Q239E c.715C>G 12 118474261 HNSC G C Missense p.T142R c.425C>G 12 118480940 STAD G C Synonymous p.A252A c.756C>G 12 118474220 PRAD G T Missense p.T400K c.1199C>A 12 118472017 BRCA G T Synonymous p.P249P c.747C>A 12 118474229 LUAD T A Missense p.K74I c.221A>T 12 118481144 RCCC T A Missense p.N75I c.224A>T 12 118481141 RCCC TCAA - IntronicDeletion . c.183-3091_183-3088delTTGA 12 118484270 CLL T C Synonymous p.P390P c.1170A>G 12 118472046 OV