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 ACC 2 101925026 101925026 + Missense_Mutation SNP T T C TCGA-OR-A5JL-01A-11D-A29I-10 TCGA-OR-A5JL-10A-01D-A29L-10 g.chr2:101925026T>C c.25A>G c.(25-27)Agc>Ggc p.S9G ACC 2 101925026 101925026 + Missense_Mutation SNP T T C TCGA-OR-A5K8-01A-11D-A29I-10 TCGA-OR-A5K8-10A-01D-A29L-10 g.chr2:101925026T>C c.25A>G c.(25-27)Agc>Ggc p.S9G ACC 2 101925026 101925026 + Missense_Mutation SNP T T C TCGA-OR-A5KU-01A-11D-A29I-10 TCGA-OR-A5KU-10A-01D-A29L-10 g.chr2:101925026T>C c.25A>G c.(25-27)Agc>Ggc p.S9G ACC 2 101925026 101925026 + Missense_Mutation SNP T T C TCGA-OR-A5LP-01A-11D-A29I-10 TCGA-OR-A5LP-10A-01D-A29L-10 g.chr2:101925026T>C c.25A>G c.(25-27)Agc>Ggc p.S9G BLCA 2 101893733 101893733 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr2:101893733C>T c.1170G>A c.(1168-1170)agG>agA p.R390R BLCA 2 101898448 101898448 + Missense_Mutation SNP C C G TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr2:101898448C>G c.1032G>C c.(1030-1032)ttG>ttC p.L344F BLCA 2 101924795 101924795 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:101924795C>A c.256G>T c.(256-258)Gac>Tac p.D86Y BLCA 2 101924811 101924811 + Silent SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr2:101924811C>A c.240G>T c.(238-240)ccG>ccT p.P80P BLCA 2 101924945 101924945 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr2:101924945C>T c.106G>A c.(106-108)Gag>Aag p.E36K BRCA 2 101911394 101911394 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr2:101911394T>C c.710A>G c.(709-711)cAg>cGg p.Q237R BRCA 2 101911596 101911596 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:101911596C>G c.508G>C c.(508-510)Gaa>Caa p.E170Q CESC 2 101905451 101905453 + In_Frame_Del DEL TAA TAA - TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 g.chr2:101905451_101905453delTAA c.845_847delTTA c.(844-849)attaga>aga p.I282del CESC 2 101911471 101911471 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr2:101911471C>A c.633G>T c.(631-633)atG>atT p.M211I CESC 2 101924597 101924597 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 g.chr2:101924597G>A c.454C>T c.(454-456)Cac>Tac p.H152Y COAD 2 101902593 101902593 + Nonsense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:101902593G>A c.910C>T c.(910-912)Cga>Tga p.R304* COADREAD 2 101898446 101898446 + Missense_Mutation SNP C C T TCGA-AG-3578-01A-01W-0831-10 TCGA-AG-3578-10A-01W-0831-10 g.chr2:101898446C>T c.1034G>A c.(1033-1035)aGt>aAt p.S345N COADREAD 2 101902593 101902593 + Nonsense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:101902593G>A c.910C>T c.(910-912)Cga>Tga p.R304* ESCA 2 101911541 101911541 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr2:101911541C>T c.563G>A c.(562-564)gGc>gAc p.G188D GBMLGG 2 101898453 101898453 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:101898453T>C c.1027A>G c.(1027-1029)Aat>Gat p.N343D HNSC 2 101893723 101893723 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr2:101893723G>A c.1180C>T c.(1180-1182)Cgg>Tgg p.R394W KIPAN 2 101898370 101898370 + Silent SNP C C T TCGA-CJ-4894-01A-01D-1373-10 TCGA-CJ-4894-11A-01D-1373-10 g.chr2:101898370C>T c.1110G>A c.(1108-1110)caG>caA p.Q370Q KIRC 2 101898370 101898370 + Silent SNP C C T TCGA-CJ-4894-01A-01D-1373-10 TCGA-CJ-4894-11A-01D-1373-10 g.chr2:101898370C>T c.1110G>A c.(1108-1110)caG>caA p.Q370Q LGG 2 101898453 101898453 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:101898453T>C c.1027A>G c.(1027-1029)Aat>Gat p.N343D LIHC 2 101911551 101911551 + Missense_Mutation SNP T T C TCGA-G3-A7M9-01A-23D-A34Z-10 TCGA-G3-A7M9-10A-01D-A34Z-10 g.chr2:101911551T>C c.553A>G c.(553-555)Ata>Gta p.I185V LUAD 2 101902614 101902614 + Missense_Mutation SNP C C G TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr2:101902614C>G c.889G>C c.(889-891)Gac>Cac p.D297H LUAD 2 101911639 101911639 + Silent SNP T T A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:101911639T>A c.465A>T c.(463-465)acA>acT p.T155T LUAD 2 101924612 101924612 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:101924612T>A c.439A>T c.(439-441)Acc>Tcc p.T147S LUAD 2 101924613 101924613 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:101924613G>T c.438C>A c.(436-438)atC>atA p.I146I LUAD 2 101924959 101924959 + Missense_Mutation SNP C C A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr2:101924959C>A c.92G>T c.(91-93)cGg>cTg p.R31L LUSC 2 101893736 101893736 + Silent SNP G G A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr2:101893736G>A c.1167C>T c.(1165-1167)ggC>ggT p.G389G LUSC 2 101924926 101924926 + Missense_Mutation SNP A A G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr2:101924926A>G c.125T>C c.(124-126)gTa>gCa p.V42A OV 2 101905450 101905450 + Missense_Mutation SNP C C T TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr2:101905450C>T c.848G>A c.(847-849)aGa>aAa p.R283K OV 2 101911618 101911618 + Missense_Mutation SNP C C T TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 g.chr2:101911618C>T c.486G>A c.(484-486)atG>atA p.M162I PAAD 2 101898332 101898332 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 g.chr2:101898332G>A c.1148C>T c.(1147-1149)aCg>aTg p.T383M PAAD 2 101898405 101898405 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chr2:101898405G>A c.1075C>T c.(1075-1077)Cca>Tca p.P359S PAAD 2 101905443 101905443 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:101905443C>T c.855G>A c.(853-855)ctG>ctA p.L285L PCPG 2 101893717 101893717 + Missense_Mutation SNP C C T TCGA-RW-A68F-01A-11D-A35D-08 TCGA-RW-A68F-10A-01D-A35B-08 g.chr2:101893717C>T c.1186G>A c.(1186-1188)Gga>Aga p.G396R PCPG 2 101898392 101898392 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 g.chr2:101898392G>A c.1088C>T c.(1087-1089)tCc>tTc p.S363F PRAD 2 101893716 101893716 + Missense_Mutation SNP C C A TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 g.chr2:101893716C>A c.1187G>T c.(1186-1188)gGa>gTa p.G396V PRAD 2 101911428 101911428 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:101911428G>A c.676C>T c.(676-678)Cgt>Tgt p.R226C PRAD 2 101924707 101924707 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 g.chr2:101924707C>T c.344G>A c.(343-345)cGt>cAt p.R115H READ 2 101898446 101898446 + Missense_Mutation SNP C C T TCGA-AG-3578-01A-01W-0831-10 TCGA-AG-3578-10A-01W-0831-10 g.chr2:101898446C>T c.1034G>A c.(1033-1035)aGt>aAt p.S345N SARC 2 101893720 101893720 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 g.chr2:101893720G>T c.1183C>A c.(1183-1185)Cat>Aat p.H395N SARC 2 101893740 101893740 + Missense_Mutation SNP G G T TCGA-FX-A76Y-01A-11D-A351-09 TCGA-FX-A76Y-10A-01D-A351-09 g.chr2:101893740G>T c.1163C>A c.(1162-1164)gCc>gAc p.A388D SKCM 2 101911607 101911607 + Missense_Mutation SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr2:101911607G>A c.497C>T c.(496-498)cCa>cTa p.P166L SKCM 2 101924848 101924848 + Missense_Mutation SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr2:101924848G>A c.203C>T c.(202-204)tCg>tTg p.S68L

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 2 101883261 101883261 single base substitution G A downstream_gene_variant BLCA-CN 2 101885808 101885808 single base substitution G T downstream_gene_variant BLCA-US 2 101885518 101885518 single base substitution G C downstream_gene_variant BRCA-EU 2 101883422 101883422 single base substitution G A downstream_gene_variant BRCA-EU 2 101883651 101883651 single base substitution C A downstream_gene_variant BRCA-EU 2 101884253 101884253 single base substitution G A downstream_gene_variant BRCA-EU 2 101884382 101884382 single base substitution G T downstream_gene_variant BRCA-EU 2 101885675 101885675 single base substitution C T downstream_gene_variant BRCA-EU 2 101886144 101886144 single base substitution G A downstream_gene_variant BRCA-EU 2 101887201 101887201 single base substitution G T downstream_gene_variant BRCA-EU 2 101887939 101887939 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 2 101887939 101887939 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 101887939 101887939 deletion of <=200bp A - exon_variant BRCA-EU 2 101887944 101887944 single base substitution A C 3_prime_UTR_variant BRCA-EU 2 101887944 101887944 single base substitution A C downstream_gene_variant BRCA-EU 2 101887944 101887944 single base substitution A C exon_variant BRCA-EU 2 101888038 101888038 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 101888038 101888038 single base substitution G A downstream_gene_variant BRCA-EU 2 101888038 101888038 single base substitution G A exon_variant BRCA-EU 2 101888119 101888119 single base substitution A T 3_prime_UTR_variant BRCA-EU 2 101888119 101888119 single base substitution A T downstream_gene_variant BRCA-EU 2 101888119 101888119 single base substitution A T exon_variant BRCA-EU 2 101888856 101888856 single base substitution C T downstream_gene_variant BRCA-EU 2 101888856 101888856 single base substitution C T intron_variant BRCA-EU 2 101889224 101889224 single base substitution G C downstream_gene_variant BRCA-EU 2 101889224 101889224 single base substitution G C intron_variant BRCA-EU 2 101889642 101889642 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 101889642 101889642 single base substitution G C downstream_gene_variant BRCA-EU 2 101889642 101889642 single base substitution G C upstream_gene_variant BRCA-EU 2 101892609 101892609 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 101892609 101892609 single base substitution A G intron_variant BRCA-EU 2 101892609 101892609 single base substitution A G upstream_gene_variant BRCA-EU 2 101892940 101892940 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 101892940 101892940 single base substitution G C intron_variant BRCA-EU 2 101892940 101892940 single base substitution G C upstream_gene_variant BRCA-EU 2 101893839 101893839 single base substitution A G downstream_gene_variant BRCA-EU 2 101893839 101893839 single base substitution A G intron_variant BRCA-EU 2 101893839 101893839 single base substitution A G upstream_gene_variant BRCA-EU 2 101894571 101894571 single base substitution G C downstream_gene_variant BRCA-EU 2 101894571 101894571 single base substitution G C intron_variant BRCA-EU 2 101895791 101895791 single base substitution C T downstream_gene_variant BRCA-EU 2 101895791 101895791 single base substitution C T intron_variant BRCA-EU 2 101901732 101901732 single base substitution A G downstream_gene_variant BRCA-EU 2 101901732 101901732 single base substitution A G intron_variant BRCA-EU 2 101901744 101901744 single base substitution T G downstream_gene_variant BRCA-EU 2 101901744 101901744 single base substitution T G intron_variant BRCA-EU 2 101902156 101902156 single base substitution C G downstream_gene_variant BRCA-EU 2 101902156 101902156 single base substitution C G intron_variant BRCA-EU 2 101902563 101902563 single base substitution T A downstream_gene_variant BRCA-EU 2 101902563 101902563 single base substitution T A exon_variant BRCA-EU 2 101902563 101902563 single base substitution T A missense_variant I314F 940A>T BRCA-EU 2 101903145 101903145 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 101903145 101903145 deletion of <=200bp A - intron_variant BRCA-EU 2 101903145 101903145 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 101904569 101904569 single base substitution C G downstream_gene_variant BRCA-EU 2 101904569 101904569 single base substitution C G intron_variant BRCA-EU 2 101904569 101904569 single base substitution C G upstream_gene_variant BRCA-EU 2 101905304 101905304 single base substitution G A exon_variant BRCA-EU 2 101905304 101905304 single base substitution G A intron_variant BRCA-EU 2 101905304 101905304 single base substitution G A upstream_gene_variant BRCA-EU 2 101906598 101906598 single base substitution C T intron_variant BRCA-EU 2 101906598 101906598 single base substitution C T upstream_gene_variant BRCA-EU 2 101907342 101907342 single base substitution C G intron_variant BRCA-EU 2 101907342 101907342 single base substitution C G upstream_gene_variant BRCA-EU 2 101907637 101907637 single base substitution G A intron_variant BRCA-EU 2 101907637 101907637 single base substitution G A upstream_gene_variant BRCA-EU 2 101909023 101909023 single base substitution T C intron_variant BRCA-EU 2 101909891 101909891 single base substitution A T intron_variant BRCA-EU 2 101910275 101910275 single base substitution C T intron_variant BRCA-EU 2 101912559 101912559 single base substitution G A intron_variant BRCA-EU 2 101912559 101912559 single base substitution G A upstream_gene_variant BRCA-EU 2 101913064 101913064 single base substitution G A intron_variant BRCA-EU 2 101913064 101913064 single base substitution G A upstream_gene_variant BRCA-EU 2 101913986 101913986 insertion of <=200bp - T intron_variant BRCA-EU 2 101913986 101913986 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 101915607 101915607 single base substitution G C intron_variant BRCA-EU 2 101915607 101915607 single base substitution G C upstream_gene_variant BRCA-EU 2 101916490 101916490 single base substitution T A intron_variant BRCA-EU 2 101916864 101916864 single base substitution C G intron_variant BRCA-EU 2 101918031 101918031 single base substitution G C intron_variant BRCA-EU 2 101918544 101918544 single base substitution G T intron_variant BRCA-EU 2 101918632 101918632 single base substitution C T intron_variant BRCA-EU 2 101918927 101918927 single base substitution T A intron_variant BRCA-EU 2 101920611 101920611 single base substitution C T intron_variant BRCA-EU 2 101921165 101921165 deletion of <=200bp T - intron_variant BRCA-EU 2 101921554 101921554 single base substitution G A intron_variant BRCA-EU 2 101921866 101921866 single base substitution C G intron_variant BRCA-EU 2 101922756 101922756 single base substitution C T intron_variant BRCA-EU 2 101923023 101923023 single base substitution C A intron_variant BRCA-EU 2 101923657 101923657 single base substitution C T intron_variant BRCA-EU 2 101924740 101924740 single base substitution C T exon_variant BRCA-EU 2 101924740 101924740 single base substitution C T missense_variant R104Q 311G>A BRCA-EU 2 101925339 101925339 single base substitution C T upstream_gene_variant BRCA-EU 2 101925645 101925645 single base substitution G A upstream_gene_variant BRCA-EU 2 101926229 101926229 single base substitution C G upstream_gene_variant BRCA-EU 2 101926670 101926670 single base substitution C G upstream_gene_variant BRCA-EU 2 101928228 101928228 single base substitution C G upstream_gene_variant BRCA-EU 2 101929754 101929754 single base substitution C T upstream_gene_variant BRCA-EU 2 101929974 101929974 single base substitution G T upstream_gene_variant BRCA-FR 2 101883422 101883422 single base substitution G A downstream_gene_variant BRCA-FR 2 101885675 101885675 single base substitution C T downstream_gene_variant BRCA-FR 2 101889224 101889224 single base substitution G C downstream_gene_variant BRCA-FR 2 101889224 101889224 single base substitution G C intron_variant BRCA-FR 2 101892940 101892940 single base substitution G C 3_prime_UTR_variant BRCA-FR 2 101892940 101892940 single base substitution G C intron_variant BRCA-FR 2 101892940 101892940 single base substitution G C upstream_gene_variant BRCA-FR 2 101894571 101894571 single base substitution G C downstream_gene_variant BRCA-FR 2 101894571 101894571 single base substitution G C intron_variant BRCA-FR 2 101901732 101901732 single base substitution A G downstream_gene_variant BRCA-FR 2 101901732 101901732 single base substitution A G intron_variant BRCA-FR 2 101901744 101901744 single base substitution T G downstream_gene_variant BRCA-FR 2 101901744 101901744 single base substitution T G intron_variant BRCA-FR 2 101912559 101912559 single base substitution G A intron_variant BRCA-FR 2 101912559 101912559 single base substitution G A upstream_gene_variant BRCA-FR 2 101918031 101918031 single base substitution G C intron_variant BRCA-UK 2 101889642 101889642 single base substitution G C 3_prime_UTR_variant BRCA-UK 2 101889642 101889642 single base substitution G C downstream_gene_variant BRCA-UK 2 101889642 101889642 single base substitution G C upstream_gene_variant BRCA-UK 2 101905948 101905948 single base substitution C T intron_variant BRCA-UK 2 101905948 101905948 single base substitution C T upstream_gene_variant BRCA-UK 2 101909891 101909891 single base substitution A T intron_variant BRCA-UK 2 101910834 101910834 single base substitution G A exon_variant BRCA-UK 2 101910834 101910834 single base substitution G A intron_variant BRCA-UK 2 101911559 101911559 single base substitution G C exon_variant BRCA-UK 2 101911559 101911559 single base substitution G C missense_variant T182R 545C>G BRCA-UK 2 101911559 101911559 single base substitution G C upstream_gene_variant BRCA-UK 2 101912122 101912122 single base substitution C A intron_variant BRCA-UK 2 101912122 101912122 single base substitution C A upstream_gene_variant BRCA-UK 2 101913064 101913064 single base substitution G A intron_variant BRCA-UK 2 101913064 101913064 single base substitution G A upstream_gene_variant BRCA-UK 2 101923657 101923657 single base substitution C T intron_variant BRCA-US 2 101911394 101911394 single base substitution T C missense_variant Q237R 710A>G BRCA-US 2 101911394 101911394 single base substitution T C splice_region_variant BRCA-US 2 101911394 101911394 single base substitution T C upstream_gene_variant BRCA-US 2 101911596 101911596 single base substitution C G exon_variant BRCA-US 2 101911596 101911596 single base substitution C G missense_variant E170Q 508G>C BRCA-US 2 101911596 101911596 single base substitution C G upstream_gene_variant BTCA-JP 2 101902609 101902609 single base substitution T A downstream_gene_variant BTCA-JP 2 101902609 101902609 single base substitution T A exon_variant BTCA-JP 2 101902609 101902609 single base substitution T A synonymous_variant P298P 894A>T BTCA-JP 2 101902609 101902609 single base substitution T A upstream_gene_variant BTCA-JP 2 101905714 101905714 single base substitution T G intron_variant BTCA-JP 2 101905714 101905714 single base substitution T G upstream_gene_variant BTCA-JP 2 101925026 101925026 single base substitution T C exon_variant BTCA-JP 2 101925026 101925026 single base substitution T C missense_variant S9G 25A>G CESC-US 2 101905451 101905453 deletion of <=200bp TAA - disruptive_inframe_deletion IR282R CESC-US 2 101905451 101905453 deletion of <=200bp TAA - exon_variant CESC-US 2 101905451 101905453 deletion of <=200bp TAA - upstream_gene_variant CESC-US 2 101911471 101911471 single base substitution C A exon_variant CESC-US 2 101911471 101911471 single base substitution C A missense_variant M211I 633G>T CESC-US 2 101911471 101911471 single base substitution C A upstream_gene_variant CESC-US 2 101924597 101924597 single base substitution G A exon_variant CESC-US 2 101924597 101924597 single base substitution G A missense_variant H152Y 454C>T CLLE-ES 2 101890675 101890675 single base substitution T C downstream_gene_variant CLLE-ES 2 101890675 101890675 single base substitution T C intron_variant CLLE-ES 2 101890675 101890675 single base substitution T C upstream_gene_variant CLLE-ES 2 101898592 101898592 single base substitution T C intron_variant CLLE-ES 2 101902528 101902528 single base substitution A G downstream_gene_variant CLLE-ES 2 101902528 101902528 single base substitution A G intron_variant COAD-US 2 101885690 101885690 single base substitution C T downstream_gene_variant COAD-US 2 101902593 101902593 single base substitution G A downstream_gene_variant COAD-US 2 101902593 101902593 single base substitution G A exon_variant COAD-US 2 101902593 101902593 single base substitution G A stop_gained R304* 910C>T COAD-US 2 101902593 101902593 single base substitution G A upstream_gene_variant COCA-CN 2 101883038 101883038 single base substitution C T downstream_gene_variant COCA-CN 2 101893620 101893620 single base substitution T A 3_prime_UTR_variant COCA-CN 2 101893620 101893620 single base substitution T A downstream_gene_variant COCA-CN 2 101893620 101893620 single base substitution T A intron_variant COCA-CN 2 101893620 101893620 single base substitution T A upstream_gene_variant COCA-CN 2 101902570 101902570 single base substitution A G downstream_gene_variant COCA-CN 2 101902570 101902570 single base substitution A G exon_variant COCA-CN 2 101902570 101902570 single base substitution A G synonymous_variant L311L 933T>C COCA-CN 2 101902570 101902570 single base substitution A G upstream_gene_variant ESAD-UK 2 101882979 101882979 single base substitution A G downstream_gene_variant ESAD-UK 2 101883073 101883073 single base substitution A G downstream_gene_variant ESAD-UK 2 101883470 101883470 single base substitution C G downstream_gene_variant ESAD-UK 2 101884200 101884200 single base substitution C T downstream_gene_variant ESAD-UK 2 101885464 101885464 single base substitution A G downstream_gene_variant ESAD-UK 2 101885741 101885741 single base substitution G A downstream_gene_variant ESAD-UK 2 101888260 101888260 single base substitution T G downstream_gene_variant ESAD-UK 2 101888260 101888260 single base substitution T G intron_variant ESAD-UK 2 101890266 101890266 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 101890266 101890266 deletion of <=200bp A - intron_variant ESAD-UK 2 101890266 101890266 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 101893861 101893861 single base substitution T A downstream_gene_variant ESAD-UK 2 101893861 101893861 single base substitution T A intron_variant ESAD-UK 2 101893861 101893861 single base substitution T A upstream_gene_variant ESAD-UK 2 101895182 101895182 single base substitution C T downstream_gene_variant ESAD-UK 2 101895182 101895182 single base substitution C T intron_variant ESAD-UK 2 101895337 101895337 single base substitution G A downstream_gene_variant ESAD-UK 2 101895337 101895337 single base substitution G A intron_variant ESAD-UK 2 101895476 101895476 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 101895476 101895476 insertion of <=200bp - T intron_variant ESAD-UK 2 101896780 101896780 single base substitution A C downstream_gene_variant ESAD-UK 2 101896780 101896780 single base substitution A C intron_variant ESAD-UK 2 101897259 101897259 single base substitution G A downstream_gene_variant ESAD-UK 2 101897259 101897259 single base substitution G A intron_variant ESAD-UK 2 101898531 101898531 single base substitution G A intron_variant ESAD-UK 2 101898594 101898594 single base substitution G A intron_variant ESAD-UK 2 101900810 101900810 single base substitution G C downstream_gene_variant ESAD-UK 2 101900810 101900810 single base substitution G C intron_variant ESAD-UK 2 101908772 101908772 single base substitution C G intron_variant ESAD-UK 2 101910109 101910109 single base substitution C A intron_variant ESAD-UK 2 101910566 101910567 deletion of <=200bp AC - exon_variant ESAD-UK 2 101910566 101910567 deletion of <=200bp AC - intron_variant ESAD-UK 2 101911901 101911901 single base substitution A G intron_variant ESAD-UK 2 101911901 101911901 single base substitution A G upstream_gene_variant ESAD-UK 2 101912301 101912301 single base substitution T C intron_variant ESAD-UK 2 101912301 101912301 single base substitution T C upstream_gene_variant ESAD-UK 2 101913646 101913646 deletion of <=200bp G - intron_variant ESAD-UK 2 101913646 101913646 deletion of <=200bp G - upstream_gene_variant ESAD-UK 2 101913922 101913922 single base substitution G A intron_variant ESAD-UK 2 101913922 101913922 single base substitution G A upstream_gene_variant ESAD-UK 2 101914183 101914183 deletion of <=200bp T - intron_variant ESAD-UK 2 101914183 101914183 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 101915126 101915126 single base substitution C A intron_variant ESAD-UK 2 101915126 101915126 single base substitution C A upstream_gene_variant ESAD-UK 2 101915452 101915452 single base substitution T C intron_variant ESAD-UK 2 101915452 101915452 single base substitution T C upstream_gene_variant ESAD-UK 2 101916183 101916183 single base substitution C T intron_variant ESAD-UK 2 101917710 101917710 single base substitution T G intron_variant ESAD-UK 2 101918148 101918148 deletion of <=200bp T - intron_variant ESAD-UK 2 101918938 101918938 single base substitution G A intron_variant ESAD-UK 2 101920398 101920398 single base substitution A G intron_variant ESAD-UK 2 101925614 101925614 single base substitution G A upstream_gene_variant ESCA-CN 2 101885691 101885691 single base substitution G A downstream_gene_variant ESCA-CN 2 101886538 101886538 insertion of <=200bp - T downstream_gene_variant ESCA-CN 2 101889934 101889934 single base substitution G T downstream_gene_variant ESCA-CN 2 101889934 101889934 single base substitution G T intron_variant ESCA-CN 2 101889934 101889934 single base substitution G T upstream_gene_variant ESCA-CN 2 101893725 101893725 single base substitution G A downstream_gene_variant ESCA-CN 2 101893725 101893725 single base substitution G A intron_variant ESCA-CN 2 101893725 101893725 single base substitution G A missense_variant S393F 1178C>T ESCA-CN 2 101893725 101893725 single base substitution G A upstream_gene_variant KIRC-US 2 101883240 101883240 single base substitution A G downstream_gene_variant KIRC-US 2 101885790 101885790 single base substitution G C downstream_gene_variant KIRC-US 2 101885856 101885856 single base substitution A C downstream_gene_variant KIRC-US 2 101898370 101898370 single base substitution C T exon_variant KIRC-US 2 101898370 101898370 single base substitution C T synonymous_variant Q370Q 1110G>A LAML-KR 2 101920259 101920259 single base substitution A T intron_variant LICA-CN 2 101898345 101898345 single base substitution C T exon_variant LICA-CN 2 101898345 101898345 single base substitution C T missense_variant A379T 1135G>A LICA-FR 2 101883263 101883263 single base substitution A C downstream_gene_variant LICA-FR 2 101887914 101887914 single base substitution T C 3_prime_UTR_variant LICA-FR 2 101887914 101887914 single base substitution T C downstream_gene_variant LICA-FR 2 101887914 101887914 single base substitution T C exon_variant LICA-FR 2 101892149 101892149 single base substitution C T downstream_gene_variant LICA-FR 2 101892149 101892149 single base substitution C T intron_variant LICA-FR 2 101892149 101892149 single base substitution C T upstream_gene_variant LICA-FR 2 101896037 101896037 deletion of <=200bp A - downstream_gene_variant LICA-FR 2 101896037 101896037 deletion of <=200bp A - intron_variant LICA-FR 2 101898456 101898456 single base substitution C G exon_variant LICA-FR 2 101898456 101898456 single base substitution C G missense_variant A342P 1024G>C LICA-FR 2 101902685 101902685 single base substitution T C downstream_gene_variant LICA-FR 2 101902685 101902685 single base substitution T C exon_variant LICA-FR 2 101902685 101902685 single base substitution T C intron_variant LICA-FR 2 101902685 101902685 single base substitution T C upstream_gene_variant LICA-FR 2 101924670 101924670 single base substitution C A exon_variant LICA-FR 2 101924670 101924670 single base substitution C A synonymous_variant A127A 381G>T LIHC-US 2 101885756 101885756 single base substitution A T downstream_gene_variant LIHC-US 2 101911551 101911551 single base substitution T C exon_variant LIHC-US 2 101911551 101911551 single base substitution T C missense_variant I185V 553A>G LIHC-US 2 101911551 101911551 single base substitution T C upstream_gene_variant LINC-JP 2 101883155 101883155 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 101885200 101885200 single base substitution T C downstream_gene_variant LINC-JP 2 101885546 101885546 single base substitution A T downstream_gene_variant LINC-JP 2 101888639 101888639 single base substitution T G downstream_gene_variant LINC-JP 2 101888639 101888639 single base substitution T G intron_variant LINC-JP 2 101889844 101889844 single base substitution T C downstream_gene_variant LINC-JP 2 101889844 101889844 single base substitution T C intron_variant LINC-JP 2 101889844 101889844 single base substitution T C upstream_gene_variant LINC-JP 2 101889956 101889956 single base substitution T G downstream_gene_variant LINC-JP 2 101889956 101889956 single base substitution T G intron_variant LINC-JP 2 101889956 101889956 single base substitution T G upstream_gene_variant LINC-JP 2 101904343 101904343 single base substitution G A downstream_gene_variant LINC-JP 2 101904343 101904343 single base substitution G A intron_variant LINC-JP 2 101904343 101904343 single base substitution G A upstream_gene_variant LINC-JP 2 101904686 101904686 single base substitution G A downstream_gene_variant LINC-JP 2 101904686 101904686 single base substitution G A intron_variant LINC-JP 2 101904686 101904686 single base substitution G A upstream_gene_variant LINC-JP 2 101911339 101911339 single base substitution G A intron_variant LINC-JP 2 101911339 101911339 single base substitution G A upstream_gene_variant LINC-JP 2 101912543 101912543 single base substitution G A intron_variant LINC-JP 2 101912543 101912543 single base substitution G A upstream_gene_variant LIRI-JP 2 101882891 101882891 single base substitution A T downstream_gene_variant LIRI-JP 2 101884551 101884551 single base substitution T C downstream_gene_variant LIRI-JP 2 101885361 101885361 single base substitution C T downstream_gene_variant LIRI-JP 2 101885684 101885684 single base substitution T C downstream_gene_variant LIRI-JP 2 101885996 101885996 insertion of <=200bp - TA downstream_gene_variant LIRI-JP 2 101886222 101886250 deletion of <=200bp GTTTTCGTAAAGTTCCAATGTTGATGAGA - downstream_gene_variant LIRI-JP 2 101886250 101886250 single base substitution A G downstream_gene_variant LIRI-JP 2 101886335 101886335 single base substitution C A downstream_gene_variant LIRI-JP 2 101886589 101886589 single base substitution T G downstream_gene_variant LIRI-JP 2 101886948 101886948 single base substitution T G downstream_gene_variant LIRI-JP 2 101888365 101888365 single base substitution A C downstream_gene_variant LIRI-JP 2 101888365 101888365 single base substitution A C intron_variant LIRI-JP 2 101888628 101888628 insertion of <=200bp - C downstream_gene_variant LIRI-JP 2 101888628 101888628 insertion of <=200bp - C intron_variant LIRI-JP 2 101890276 101890276 single base substitution T A downstream_gene_variant LIRI-JP 2 101890276 101890276 single base substitution T A intron_variant LIRI-JP 2 101890276 101890276 single base substitution T A upstream_gene_variant LIRI-JP 2 101893422 101893422 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 101893422 101893422 single base substitution T C downstream_gene_variant LIRI-JP 2 101893422 101893422 single base substitution T C intron_variant LIRI-JP 2 101893422 101893422 single base substitution T C upstream_gene_variant LIRI-JP 2 101894424 101894424 single base substitution G A downstream_gene_variant LIRI-JP 2 101894424 101894424 single base substitution G A intron_variant LIRI-JP 2 101895685 101895685 insertion of <=200bp - A downstream_gene_variant LIRI-JP 2 101895685 101895685 insertion of <=200bp - A intron_variant LIRI-JP 2 101900340 101900340 single base substitution G A downstream_gene_variant LIRI-JP 2 101900340 101900340 single base substitution G A intron_variant LIRI-JP 2 101903218 101903218 single base substitution G A downstream_gene_variant LIRI-JP 2 101903218 101903218 single base substitution G A intron_variant LIRI-JP 2 101903218 101903218 single base substitution G A upstream_gene_variant LIRI-JP 2 101903744 101903744 single base substitution C A downstream_gene_variant LIRI-JP 2 101903744 101903744 single base substitution C A intron_variant LIRI-JP 2 101903744 101903744 single base substitution C A upstream_gene_variant LIRI-JP 2 101904053 101904053 single base substitution T C downstream_gene_variant LIRI-JP 2 101904053 101904053 single base substitution T C intron_variant LIRI-JP 2 101904053 101904053 single base substitution T C upstream_gene_variant LIRI-JP 2 101904842 101904842 single base substitution G A downstream_gene_variant LIRI-JP 2 101904842 101904842 single base substitution G A intron_variant LIRI-JP 2 101904842 101904842 single base substitution G A upstream_gene_variant LIRI-JP 2 101906899 101906899 single base substitution T C intron_variant LIRI-JP 2 101906899 101906899 single base substitution T C upstream_gene_variant LIRI-JP 2 101907745 101907745 single base substitution T C intron_variant LIRI-JP 2 101907745 101907745 single base substitution T C upstream_gene_variant LIRI-JP 2 101910278 101910278 single base substitution C T intron_variant LIRI-JP 2 101911437 101911437 single base substitution A G exon_variant LIRI-JP 2 101911437 101911437 single base substitution A G missense_variant Y223H 667T>C LIRI-JP 2 101911437 101911437 single base substitution A G upstream_gene_variant LIRI-JP 2 101912691 101912691 single base substitution T A intron_variant LIRI-JP 2 101912691 101912691 single base substitution T A upstream_gene_variant LIRI-JP 2 101912931 101912931 single base substitution T C intron_variant LIRI-JP 2 101912931 101912931 single base substitution T C upstream_gene_variant LIRI-JP 2 101916371 101916371 single base substitution C A intron_variant LIRI-JP 2 101916474 101916474 single base substitution A C intron_variant LIRI-JP 2 101916475 101916475 single base substitution G C intron_variant LIRI-JP 2 101921774 101921774 single base substitution T C intron_variant LIRI-JP 2 101923254 101923254 single base substitution A T intron_variant LIRI-JP 2 101923428 101923428 single base substitution A T intron_variant LIRI-JP 2 101925374 101925374 single base substitution G T upstream_gene_variant LIRI-JP 2 101925962 101925962 single base substitution T C upstream_gene_variant LIRI-JP 2 101929736 101929736 single base substitution G A upstream_gene_variant LUSC-KR 2 101891635 101891635 single base substitution A T downstream_gene_variant LUSC-KR 2 101891635 101891635 single base substitution A T intron_variant LUSC-KR 2 101891635 101891635 single base substitution A T upstream_gene_variant LUSC-KR 2 101896322 101896322 single base substitution C G downstream_gene_variant LUSC-KR 2 101896322 101896322 single base substitution C G intron_variant LUSC-KR 2 101896666 101896666 single base substitution G A downstream_gene_variant LUSC-KR 2 101896666 101896666 single base substitution G A intron_variant LUSC-KR 2 101897113 101897113 single base substitution G A downstream_gene_variant LUSC-KR 2 101897113 101897113 single base substitution G A intron_variant LUSC-KR 2 101904089 101904089 single base substitution T C downstream_gene_variant LUSC-KR 2 101904089 101904089 single base substitution T C intron_variant LUSC-KR 2 101904089 101904089 single base substitution T C upstream_gene_variant LUSC-KR 2 101905054 101905054 single base substitution C G downstream_gene_variant LUSC-KR 2 101905054 101905054 single base substitution C G intron_variant LUSC-KR 2 101905054 101905054 single base substitution C G upstream_gene_variant LUSC-KR 2 101917227 101917227 single base substitution C G intron_variant LUSC-KR 2 101918057 101918057 single base substitution G C intron_variant LUSC-KR 2 101918124 101918124 single base substitution T C intron_variant LUSC-KR 2 101920232 101920232 single base substitution C G intron_variant LUSC-KR 2 101925708 101925708 single base substitution G A upstream_gene_variant LUSC-KR 2 101926741 101926741 single base substitution G T upstream_gene_variant LUSC-KR 2 101926826 101926826 single base substitution C A upstream_gene_variant LUSC-KR 2 101927307 101927307 single base substitution C T upstream_gene_variant LUSC-KR 2 101929534 101929534 single base substitution C A upstream_gene_variant LUSC-US 2 101893736 101893736 single base substitution G A downstream_gene_variant LUSC-US 2 101893736 101893736 single base substitution G A intron_variant LUSC-US 2 101893736 101893736 single base substitution G A synonymous_variant G389G 1167C>T LUSC-US 2 101893736 101893736 single base substitution G A upstream_gene_variant LUSC-US 2 101924926 101924926 single base substitution A G exon_variant LUSC-US 2 101924926 101924926 single base substitution A G missense_variant V42A 125T>C MALY-DE 2 101886827 101886827 single base substitution A G downstream_gene_variant MALY-DE 2 101888118 101888118 single base substitution A C 3_prime_UTR_variant MALY-DE 2 101888118 101888118 single base substitution A C downstream_gene_variant MALY-DE 2 101888118 101888118 single base substitution A C exon_variant MALY-DE 2 101891211 101891211 single base substitution G A downstream_gene_variant MALY-DE 2 101891211 101891211 single base substitution G A intron_variant MALY-DE 2 101891211 101891211 single base substitution G A upstream_gene_variant MALY-DE 2 101912307 101912307 single base substitution T C intron_variant MALY-DE 2 101912307 101912307 single base substitution T C upstream_gene_variant MALY-DE 2 101916227 101916227 single base substitution T C intron_variant MALY-DE 2 101919510 101919510 single base substitution G A intron_variant MELA-AU 2 101883607 101883608 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 101887008 101887008 single base substitution T A downstream_gene_variant MELA-AU 2 101892180 101892180 single base substitution G A downstream_gene_variant MELA-AU 2 101892180 101892180 single base substitution G A intron_variant MELA-AU 2 101892180 101892180 single base substitution G A upstream_gene_variant MELA-AU 2 101892300 101892300 single base substitution A C downstream_gene_variant MELA-AU 2 101892300 101892300 single base substitution A C intron_variant MELA-AU 2 101892300 101892300 single base substitution A C upstream_gene_variant MELA-AU 2 101892999 101892999 single base substitution T A 3_prime_UTR_variant MELA-AU 2 101892999 101892999 single base substitution T A downstream_gene_variant MELA-AU 2 101892999 101892999 single base substitution T A intron_variant MELA-AU 2 101892999 101892999 single base substitution T A upstream_gene_variant MELA-AU 2 101893942 101893942 single base substitution C T downstream_gene_variant MELA-AU 2 101893942 101893942 single base substitution C T intron_variant MELA-AU 2 101893942 101893942 single base substitution C T upstream_gene_variant MELA-AU 2 101893945 101893945 single base substitution G A downstream_gene_variant MELA-AU 2 101893945 101893945 single base substitution G A intron_variant MELA-AU 2 101893945 101893945 single base substitution G A upstream_gene_variant MELA-AU 2 101894438 101894438 single base substitution C T downstream_gene_variant MELA-AU 2 101894438 101894438 single base substitution C T intron_variant MELA-AU 2 101894446 101894446 single base substitution G A downstream_gene_variant MELA-AU 2 101894446 101894446 single base substitution G A intron_variant MELA-AU 2 101894482 101894482 single base substitution G A downstream_gene_variant MELA-AU 2 101894482 101894482 single base substitution G A intron_variant MELA-AU 2 101894799 101894799 single base substitution G A downstream_gene_variant MELA-AU 2 101894799 101894799 single base substitution G A intron_variant MELA-AU 2 101894922 101894922 single base substitution G A downstream_gene_variant MELA-AU 2 101894922 101894922 single base substitution G A intron_variant MELA-AU 2 101895160 101895160 single base substitution G A downstream_gene_variant MELA-AU 2 101895160 101895160 single base substitution G A intron_variant MELA-AU 2 101895646 101895646 single base substitution G A downstream_gene_variant MELA-AU 2 101895646 101895646 single base substitution G A intron_variant MELA-AU 2 101896239 101896239 single base substitution G A downstream_gene_variant MELA-AU 2 101896239 101896239 single base substitution G A intron_variant MELA-AU 2 101896666 101896666 single base substitution G A downstream_gene_variant MELA-AU 2 101896666 101896666 single base substitution G A intron_variant MELA-AU 2 101896761 101896761 single base substitution T A downstream_gene_variant MELA-AU 2 101896761 101896761 single base substitution T A intron_variant MELA-AU 2 101897261 101897261 single base substitution G A downstream_gene_variant MELA-AU 2 101897261 101897261 single base substitution G A intron_variant MELA-AU 2 101897868 101897868 single base substitution G A downstream_gene_variant MELA-AU 2 101897868 101897868 single base substitution G A intron_variant MELA-AU 2 101898256 101898256 single base substitution G T downstream_gene_variant MELA-AU 2 101898256 101898256 single base substitution G T exon_variant MELA-AU 2 101898256 101898256 single base substitution G T intron_variant MELA-AU 2 101898849 101898849 single base substitution G A intron_variant MELA-AU 2 101899576 101899576 single base substitution A G intron_variant MELA-AU 2 101899641 101899641 single base substitution G A intron_variant MELA-AU 2 101899938 101899938 single base substitution G A intron_variant MELA-AU 2 101900050 101900051 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 101900203 101900203 single base substitution A G downstream_gene_variant MELA-AU 2 101900203 101900203 single base substitution A G intron_variant MELA-AU 2 101900606 101900606 single base substitution A T downstream_gene_variant MELA-AU 2 101900606 101900606 single base substitution A T intron_variant MELA-AU 2 101901126 101901126 single base substitution T A downstream_gene_variant MELA-AU 2 101901126 101901126 single base substitution T A intron_variant MELA-AU 2 101901834 101901834 single base substitution G A downstream_gene_variant MELA-AU 2 101901834 101901834 single base substitution G A intron_variant MELA-AU 2 101901885 101901885 single base substitution C A downstream_gene_variant MELA-AU 2 101901885 101901885 single base substitution C A intron_variant MELA-AU 2 101902011 101902011 single base substitution G A downstream_gene_variant MELA-AU 2 101902011 101902011 single base substitution G A intron_variant MELA-AU 2 101902209 101902209 single base substitution C T downstream_gene_variant MELA-AU 2 101902209 101902209 single base substitution C T intron_variant MELA-AU 2 101902575 101902575 single base substitution T A downstream_gene_variant MELA-AU 2 101902575 101902575 single base substitution T A exon_variant MELA-AU 2 101902575 101902575 single base substitution T A stop_gained K310* 928A>T MELA-AU 2 101902575 101902575 single base substitution T A upstream_gene_variant MELA-AU 2 101902629 101902629 single base substitution G A downstream_gene_variant MELA-AU 2 101902629 101902629 single base substitution G A exon_variant MELA-AU 2 101902629 101902629 single base substitution G A missense_variant H292Y 874C>T MELA-AU 2 101902629 101902629 single base substitution G A upstream_gene_variant MELA-AU 2 101902926 101902926 single base substitution G A downstream_gene_variant MELA-AU 2 101902926 101902926 single base substitution G A exon_variant MELA-AU 2 101902926 101902926 single base substitution G A intron_variant MELA-AU 2 101902926 101902926 single base substitution G A upstream_gene_variant MELA-AU 2 101903317 101903318 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 2 101903317 101903318 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 2 101903317 101903318 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 2 101903543 101903544 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 101903543 101903544 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 101903543 101903544 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 101903719 101903719 single base substitution G A downstream_gene_variant MELA-AU 2 101903719 101903719 single base substitution G A intron_variant MELA-AU 2 101903719 101903719 single base substitution G A upstream_gene_variant MELA-AU 2 101903859 101903859 single base substitution G A downstream_gene_variant MELA-AU 2 101903859 101903859 single base substitution G A intron_variant MELA-AU 2 101903859 101903859 single base substitution G A upstream_gene_variant MELA-AU 2 101904723 101904723 single base substitution G A downstream_gene_variant MELA-AU 2 101904723 101904723 single base substitution G A intron_variant MELA-AU 2 101904723 101904723 single base substitution G A upstream_gene_variant MELA-AU 2 101905527 101905527 single base substitution G A intron_variant MELA-AU 2 101905527 101905527 single base substitution G A upstream_gene_variant MELA-AU 2 101905784 101905784 single base substitution T C intron_variant MELA-AU 2 101905784 101905784 single base substitution T C upstream_gene_variant MELA-AU 2 101906075 101906075 single base substitution G A intron_variant MELA-AU 2 101906075 101906075 single base substitution G A upstream_gene_variant MELA-AU 2 101906224 101906224 single base substitution G A intron_variant MELA-AU 2 101906224 101906224 single base substitution G A upstream_gene_variant MELA-AU 2 101907121 101907121 single base substitution G A intron_variant MELA-AU 2 101907121 101907121 single base substitution G A upstream_gene_variant MELA-AU 2 101908159 101908159 single base substitution G A intron_variant MELA-AU 2 101908993 101908994 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 101909025 101909025 single base substitution G A intron_variant MELA-AU 2 101909048 101909048 single base substitution G A intron_variant MELA-AU 2 101909252 101909252 single base substitution A G intron_variant MELA-AU 2 101909352 101909352 single base substitution G A intron_variant MELA-AU 2 101909529 101909529 single base substitution G A intron_variant MELA-AU 2 101909712 101909712 single base substitution G A intron_variant MELA-AU 2 101910046 101910046 single base substitution C T intron_variant MELA-AU 2 101910127 101910127 single base substitution G A intron_variant MELA-AU 2 101910295 101910295 single base substitution T A intron_variant MELA-AU 2 101912074 101912074 single base substitution G C intron_variant MELA-AU 2 101912074 101912074 single base substitution G C upstream_gene_variant MELA-AU 2 101913264 101913264 single base substitution G A intron_variant MELA-AU 2 101913264 101913264 single base substitution G A upstream_gene_variant MELA-AU 2 101913489 101913489 single base substitution G A intron_variant MELA-AU 2 101913489 101913489 single base substitution G A upstream_gene_variant MELA-AU 2 101913797 101913797 single base substitution G A intron_variant MELA-AU 2 101913797 101913797 single base substitution G A upstream_gene_variant MELA-AU 2 101914326 101914326 single base substitution G A intron_variant MELA-AU 2 101914326 101914326 single base substitution G A upstream_gene_variant MELA-AU 2 101916291 101916291 single base substitution G A intron_variant MELA-AU 2 101916291 101916292 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 101916677 101916677 single base substitution G A intron_variant MELA-AU 2 101917676 101917676 single base substitution G A intron_variant MELA-AU 2 101917940 101917940 single base substitution C T intron_variant MELA-AU 2 101918170 101918170 insertion of <=200bp - T intron_variant MELA-AU 2 101918337 101918337 single base substitution A C intron_variant MELA-AU 2 101918775 101918775 single base substitution G A intron_variant MELA-AU 2 101919039 101919039 single base substitution C T intron_variant MELA-AU 2 101920138 101920139 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 101922090 101922090 single base substitution G A intron_variant MELA-AU 2 101922694 101922694 single base substitution A G intron_variant MELA-AU 2 101923203 101923203 single base substitution C T intron_variant MELA-AU 2 101924741 101924741 single base substitution G A exon_variant MELA-AU 2 101924741 101924741 single base substitution G A stop_gained R104* 310C>T MELA-AU 2 101926288 101926288 single base substitution C T upstream_gene_variant MELA-AU 2 101926601 101926601 single base substitution C T upstream_gene_variant MELA-AU 2 101927531 101927531 single base substitution A C upstream_gene_variant MELA-AU 2 101927757 101927757 single base substitution C T upstream_gene_variant MELA-AU 2 101927870 101927870 single base substitution C T upstream_gene_variant MELA-AU 2 101927999 101927999 single base substitution G A upstream_gene_variant MELA-AU 2 101928436 101928436 single base substitution G A upstream_gene_variant MELA-AU 2 101928593 101928593 single base substitution G A upstream_gene_variant MELA-AU 2 101928606 101928606 single base substitution C T upstream_gene_variant MELA-AU 2 101928698 101928698 single base substitution G A upstream_gene_variant MELA-AU 2 101929598 101929598 single base substitution C T upstream_gene_variant MELA-AU 2 101929635 101929635 single base substitution T G upstream_gene_variant MELA-AU 2 101929657 101929657 single base substitution A G upstream_gene_variant MELA-AU 2 101929668 101929668 single base substitution G A upstream_gene_variant MELA-AU 2 101929693 101929693 single base substitution G A upstream_gene_variant MELA-AU 2 101929751 101929751 single base substitution C T upstream_gene_variant MELA-AU 2 101929987 101929987 single base substitution A G upstream_gene_variant MELA-AU 2 101930097 101930097 single base substitution C T upstream_gene_variant ORCA-IN 2 101922120 101922120 single base substitution G A intron_variant OV-AU 2 101889416 101889416 single base substitution G A downstream_gene_variant OV-AU 2 101889416 101889416 single base substitution G A intron_variant OV-AU 2 101889416 101889416 single base substitution G A upstream_gene_variant OV-AU 2 101893996 101893996 single base substitution A C downstream_gene_variant OV-AU 2 101893996 101893996 single base substitution A C intron_variant OV-AU 2 101893996 101893996 single base substitution A C upstream_gene_variant OV-AU 2 101897468 101897468 single base substitution C A downstream_gene_variant OV-AU 2 101897468 101897468 single base substitution C A intron_variant OV-AU 2 101898797 101898797 single base substitution C G intron_variant OV-AU 2 101909183 101909183 single base substitution G A intron_variant OV-AU 2 101911420 101911420 single base substitution T C exon_variant OV-AU 2 101911420 101911420 single base substitution T C synonymous_variant L228L 684A>G OV-AU 2 101911420 101911420 single base substitution T C upstream_gene_variant OV-AU 2 101920280 101920280 single base substitution A G intron_variant OV-AU 2 101922024 101922024 single base substitution A G intron_variant OV-AU 2 101923879 101923879 single base substitution G A intron_variant OV-US 2 101911618 101911618 single base substitution C T exon_variant OV-US 2 101911618 101911618 single base substitution C T missense_variant M162I 486G>A OV-US 2 101911618 101911618 single base substitution C T upstream_gene_variant PACA-AU 2 101888547 101888550 deletion of <=200bp TCTG - downstream_gene_variant PACA-AU 2 101888547 101888550 deletion of <=200bp TCTG - intron_variant PACA-AU 2 101890179 101890179 single base substitution C A downstream_gene_variant PACA-AU 2 101890179 101890179 single base substitution C A intron_variant PACA-AU 2 101890179 101890179 single base substitution C A upstream_gene_variant PACA-AU 2 101891635 101891637 deletion of <=200bp AGT - downstream_gene_variant PACA-AU 2 101891635 101891637 deletion of <=200bp AGT - intron_variant PACA-AU 2 101891635 101891637 deletion of <=200bp AGT - upstream_gene_variant PACA-AU 2 101896326 101896326 single base substitution T C downstream_gene_variant PACA-AU 2 101896326 101896326 single base substitution T C intron_variant PACA-AU 2 101896669 101896669 single base substitution G A downstream_gene_variant PACA-AU 2 101896669 101896669 single base substitution G A intron_variant PACA-AU 2 101897274 101897274 single base substitution A G downstream_gene_variant PACA-AU 2 101897274 101897274 single base substitution A G intron_variant PACA-AU 2 101902319 101902319 single base substitution C G downstream_gene_variant PACA-AU 2 101902319 101902319 single base substitution C G intron_variant PACA-AU 2 101902446 101902446 single base substitution C A downstream_gene_variant PACA-AU 2 101902446 101902446 single base substitution C A intron_variant PACA-AU 2 101907860 101907860 single base substitution C T intron_variant PACA-AU 2 101907860 101907860 single base substitution C T upstream_gene_variant PACA-AU 2 101909585 101909585 single base substitution T C intron_variant PACA-AU 2 101909807 101909807 single base substitution A G intron_variant PACA-AU 2 101914982 101914982 single base substitution G A intron_variant PACA-AU 2 101914982 101914982 single base substitution G A upstream_gene_variant PACA-AU 2 101916805 101916805 single base substitution T C intron_variant PACA-AU 2 101924083 101924083 single base substitution A T intron_variant PACA-AU 2 101927698 101927698 single base substitution G A upstream_gene_variant PACA-CA 2 101885713 101885713 single base substitution A G downstream_gene_variant PACA-CA 2 101887939 101887939 single base substitution A G 3_prime_UTR_variant PACA-CA 2 101887939 101887939 single base substitution A G downstream_gene_variant PACA-CA 2 101887939 101887939 single base substitution A G exon_variant PACA-CA 2 101900224 101900224 single base substitution C G downstream_gene_variant PACA-CA 2 101900224 101900224 single base substitution C G intron_variant PACA-CA 2 101905201 101905201 single base substitution A G exon_variant PACA-CA 2 101905201 101905201 single base substitution A G intron_variant PACA-CA 2 101905201 101905201 single base substitution A G upstream_gene_variant PACA-CA 2 101905907 101905907 single base substitution G A intron_variant PACA-CA 2 101905907 101905907 single base substitution G A upstream_gene_variant PACA-CA 2 101909150 101909150 single base substitution C A intron_variant PACA-CA 2 101913491 101913491 single base substitution C T intron_variant PACA-CA 2 101913491 101913491 single base substitution C T upstream_gene_variant PACA-CA 2 101913762 101913762 single base substitution G C intron_variant PACA-CA 2 101913762 101913762 single base substitution G C upstream_gene_variant PACA-CA 2 101917247 101917247 single base substitution T C intron_variant PACA-CA 2 101918698 101918698 deletion of <=200bp A - intron_variant PACA-CA 2 101922793 101922793 single base substitution T G intron_variant PACA-CA 2 101923536 101923536 single base substitution T A intron_variant PACA-CA 2 101924366 101924366 single base substitution G C intron_variant PACA-CA 2 101926670 101926670 single base substitution C T upstream_gene_variant PACA-CA 2 101927764 101927764 single base substitution G C upstream_gene_variant PACA-CA 2 101928023 101928023 single base substitution T A upstream_gene_variant PAEN-AU 2 101888106 101888109 deletion of <=200bp TTTT - 3_prime_UTR_variant PAEN-AU 2 101888106 101888109 deletion of <=200bp TTTT - downstream_gene_variant PAEN-AU 2 101888106 101888109 deletion of <=200bp TTTT - exon_variant PAEN-IT 2 101904393 101904393 single base substitution C A downstream_gene_variant PAEN-IT 2 101904393 101904393 single base substitution C A intron_variant PAEN-IT 2 101904393 101904393 single base substitution C A upstream_gene_variant PAEN-IT 2 101904891 101904891 single base substitution G T downstream_gene_variant PAEN-IT 2 101904891 101904891 single base substitution G T intron_variant PAEN-IT 2 101904891 101904891 single base substitution G T upstream_gene_variant PAEN-IT 2 101914364 101914364 single base substitution G T intron_variant PAEN-IT 2 101914364 101914364 single base substitution G T upstream_gene_variant PBCA-DE 2 101901324 101901324 deletion of <=200bp A - downstream_gene_variant PBCA-DE 2 101901324 101901324 deletion of <=200bp A - intron_variant PBCA-DE 2 101901708 101901708 single base substitution T C downstream_gene_variant PBCA-DE 2 101901708 101901708 single base substitution T C intron_variant PBCA-DE 2 101918672 101918672 single base substitution C A intron_variant PBCA-DE 2 101922470 101922470 single base substitution G A intron_variant PBCA-DE 2 101924456 101924456 single base substitution G C intron_variant PBCA-DE 2 101927702 101927702 single base substitution G A upstream_gene_variant PRAD-CA 2 101915349 101915349 single base substitution C T intron_variant PRAD-CA 2 101915349 101915349 single base substitution C T upstream_gene_variant PRAD-CA 2 101925026 101925026 single base substitution T C exon_variant PRAD-CA 2 101925026 101925026 single base substitution T C missense_variant S9G 25A>G PRAD-UK 2 101884521 101884521 single base substitution G A downstream_gene_variant PRAD-UK 2 101902426 101902426 deletion of <=200bp A - downstream_gene_variant PRAD-UK 2 101902426 101902426 deletion of <=200bp A - intron_variant PRAD-UK 2 101918718 101918718 single base substitution G C intron_variant PRAD-UK 2 101922266 101922266 single base substitution T A intron_variant PRAD-UK 2 101927928 101927928 deletion of <=200bp C - upstream_gene_variant PRAD-US 2 101893716 101893716 single base substitution C A downstream_gene_variant PRAD-US 2 101893716 101893716 single base substitution C A intron_variant PRAD-US 2 101893716 101893716 single base substitution C A missense_variant G396V 1187G>T PRAD-US 2 101893716 101893716 single base substitution C A upstream_gene_variant PRAD-US 2 101924707 101924707 single base substitution C T exon_variant PRAD-US 2 101924707 101924707 single base substitution C T missense_variant R115H 344G>A READ-US 2 101883145 101883145 single base substitution G A downstream_gene_variant READ-US 2 101910543 101910543 single base substitution C T exon_variant READ-US 2 101910543 101910543 single base substitution C T missense_variant S238N 713G>A READ-US 2 101910543 101910543 single base substitution C T splice_region_variant RECA-EU 2 101884357 101884357 single base substitution T C downstream_gene_variant RECA-EU 2 101888875 101888875 single base substitution A T downstream_gene_variant RECA-EU 2 101888875 101888875 single base substitution A T intron_variant RECA-EU 2 101892738 101892738 single base substitution T A 3_prime_UTR_variant RECA-EU 2 101892738 101892738 single base substitution T A intron_variant RECA-EU 2 101892738 101892738 single base substitution T A upstream_gene_variant SKCA-BR 2 101887152 101887152 single base substitution A T downstream_gene_variant SKCA-BR 2 101894122 101894122 single base substitution A C downstream_gene_variant SKCA-BR 2 101894122 101894122 single base substitution A C intron_variant SKCA-BR 2 101894122 101894122 single base substitution A C upstream_gene_variant SKCA-BR 2 101899282 101899282 single base substitution A C intron_variant SKCA-BR 2 101904686 101904686 single base substitution G A downstream_gene_variant SKCA-BR 2 101904686 101904686 single base substitution G A intron_variant SKCA-BR 2 101904686 101904686 single base substitution G A upstream_gene_variant SKCA-BR 2 101904781 101904781 single base substitution C T downstream_gene_variant SKCA-BR 2 101904781 101904781 single base substitution C T intron_variant SKCA-BR 2 101904781 101904781 single base substitution C T upstream_gene_variant SKCA-BR 2 101909434 101909435 deletion of <=200bp CT - intron_variant SKCA-BR 2 101912139 101912139 single base substitution G A intron_variant SKCA-BR 2 101912139 101912139 single base substitution G A upstream_gene_variant SKCA-BR 2 101915910 101915910 single base substitution G A intron_variant SKCA-BR 2 101915910 101915910 single base substitution G A upstream_gene_variant SKCA-BR 2 101922123 101922123 single base substitution A C intron_variant SKCA-BR 2 101923696 101923696 single base substitution G A intron_variant SKCA-BR 2 101926693 101926693 single base substitution T C upstream_gene_variant SKCA-BR 2 101927409 101927409 single base substitution C T upstream_gene_variant SKCM-US 2 101883186 101883186 single base substitution C T downstream_gene_variant SKCM-US 2 101911607 101911607 single base substitution G A exon_variant SKCM-US 2 101911607 101911607 single base substitution G A missense_variant P166L 497C>T SKCM-US 2 101911607 101911607 single base substitution G A upstream_gene_variant SKCM-US 2 101924848 101924848 single base substitution G A exon_variant SKCM-US 2 101924848 101924848 single base substitution G A missense_variant S68L 203C>T STAD-US 2 101885796 101885796 single base substitution G A downstream_gene_variant STAD-US 2 101893708 101893708 single base substitution T A downstream_gene_variant STAD-US 2 101893708 101893708 single base substitution T A intron_variant STAD-US 2 101893708 101893708 single base substitution T A missense_variant I399F 1195A>T STAD-US 2 101893708 101893708 single base substitution T A upstream_gene_variant STAD-US 2 101910512 101910512 single base substitution G A exon_variant STAD-US 2 101910512 101910512 single base substitution G A synonymous_variant G248G 744C>T STAD-US 2 101924856 101924856 single base substitution G A exon_variant STAD-US 2 101924856 101924856 single base substitution G A synonymous_variant G65G 195C>T STAD-US 2 101924991 101924991 single base substitution C T exon_variant STAD-US 2 101924991 101924991 single base substitution C T synonymous_variant L20L 60G>A UCEC-US 2 101885512 101885512 single base substitution G T downstream_gene_variant UCEC-US 2 101890949 101890949 deletion of <=200bp A - downstream_gene_variant UCEC-US 2 101890949 101890949 deletion of <=200bp A - intron_variant UCEC-US 2 101890949 101890949 deletion of <=200bp A - upstream_gene_variant UCEC-US 2 101890950 101890950 single base substitution A C downstream_gene_variant UCEC-US 2 101890950 101890950 single base substitution A C intron_variant UCEC-US 2 101890950 101890950 single base substitution A C upstream_gene_variant UCEC-US 2 101902625 101902625 single base substitution C A downstream_gene_variant UCEC-US 2 101902625 101902625 single base substitution C A exon_variant UCEC-US 2 101902625 101902625 single base substitution C A missense_variant R293I 878G>T UCEC-US 2 101902625 101902625 single base substitution C A upstream_gene_variant UCEC-US 2 101911538 101911538 single base substitution G T exon_variant UCEC-US 2 101911538 101911538 single base substitution G T missense_variant T189N 566C>A UCEC-US 2 101911538 101911538 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-31-T COSM4561273 c.878G>A p.R293K Substitution - Missense 2:101286163-101286163 - TCGA-B5-A0JY-01 COSM1004567 c.878G>T p.R293I Substitution - Missense 2:101286163-101286163 - T3152 COSM4722010 c.69G>A p.L23L Substitution - coding silent 2:101308520-101308520 - CHC1756T COSM4804452 c.381G>T p.A127A Substitution - coding silent 2:101308208-101308208 - ESO-805 COSM1264347 c.92G>C p.R31P Substitution - Missense 2:101308497-101308497 - HCC139T COSM5823113 c.1135G>A p.A379T Substitution - Missense 2:101281883-101281883 - TCGA-37-4133-01 COSM714974 c.1167C>T p.G389G Substitution - coding silent 2:101277274-101277274 - TCGA-C5-A1BF-01 COSM4836773 c.633G>T p.M211I Substitution - Missense 2:101295009-101295009 - TCGA-D8-A1XK-01 COSM3836408 c.710A>G p.Q237R Substitution - Missense 2:101294932-101294932 - TCGA-F5-6814-01 COSM3425045 c.713G>A p.S238N Substitution - Missense 2:101294081-101294081 - TCGA-13-1488-01 COSM76260 c.486G>A p.M162I Substitution - Missense 2:101295156-101295156 - TCGA-AC-A23H-01 COSM3836409 c.508G>C p.E170Q Substitution - Missense 2:101295134-101295134 - ESCC_BICR_051T COSM5444045 c.1178C>T p.S393F Substitution - Missense 2:101277263-101277263 - AOCS-171-1-0 COSM4128060 c.684A>G p.L228L Substitution - coding silent 2:101294958-101294958 - TCGA-13-2057-01 COSM1326031 c.848G>A p.R283K Substitution - Missense 2:101288988-101288988 - TCGA-G3-A7M9-01 COSM4922681 c.553A>G p.I185V Substitution - Missense 2:101295089-101295089 - Sample_1 COSM5021310 c.711+8T>C p.? Unknown 2:101294923-101294923 - CSCC-62-T COSM4526810 c.141G>A p.V47V Substitution - coding silent 2:101308448-101308448 - EW8 COSM4582542 c.36T>C p.A12A Substitution - coding silent 2:101308553-101308553 - LIM2405 COSM4642472 c.812T>C p.V271A Substitution - Missense 2:101289024-101289024 - CRC-02T COSM5454863 c.933T>C p.L311L Substitution - coding silent 2:101286108-101286108 - TCGA-BR-8361-01 COSM4083805 c.195C>T p.G65G Substitution - coding silent 2:101308394-101308394 - LUAD-CHTN-Z4716A COSM362039 c.1047A>T p.P349P Substitution - coding silent 2:101281971-101281971 - TCGA-CG-5723-01 COSM4083804 c.744C>T p.G248G Substitution - coding silent 2:101294050-101294050 - TCGA-FS-A1ZW-06 COSM3564355 c.497C>T p.P166L Substitution - Missense 2:101295145-101295145 - T636 COSM1398447 c.910C>T p.R304* Substitution - Nonsense 2:101286131-101286131 - LUAD-CHTN-Z4716A COSM362040 c.695C>G p.S232C Substitution - Missense 2:101294947-101294947 - TCGA-D1-A17B-01 COSM1004569 c.744C>A p.G248G Substitution - coding silent 2:101294050-101294050 - S01861 COSM5671189 c.982G>A p.E328K Substitution - Missense 2:101282036-101282036 - 193 COSM1741720 c.866A>G p.H289R Substitution - Missense 2:101286175-101286175 - 7 COSM327509 c.247C>T p.P83S Substitution - Missense 2:101308342-101308342 - LUAD-F00057 COSM339422 c.781-1G>C p.? Unknown 2:101289056-101289056 - PD13306a COSM5783491 c.311G>A p.R104Q Substitution - Missense 2:101308278-101308278 - TARGET-30-PANLET COSM569254 c.1119C>A p.P373P Substitution - coding silent 2:101281899-101281899 - CPCG0003-F1 COSM4132921 c.25A>G p.S9G Substitution - Missense 2:101308564-101308564 - TCGA-HC-A4ZV-01 COSM3673444 c.1187G>T p.G396V Substitution - Missense 2:101277254-101277254 - BD87T COSM4132921 c.25A>G p.S9G Substitution - Missense 2:101308564-101308564 - TCGA-HM-A4S6-01 COSM4855022 c.454C>T p.H152Y Substitution - Missense 2:101308135-101308135 - TCGA-CH-5761-01 COSM1129621 c.344G>A p.R115H Substitution - Missense 2:101308245-101308245 - ccRCC-73 COSM1663935 c.830A>C p.K277T Substitution - Missense 2:101289006-101289006 - SWE-18 COSM1178989 c.622T>G p.F208V Substitution - Missense 2:101295020-101295020 - 16246 COSM5614906 c.631A>G p.M211V Substitution - Missense 2:101295011-101295011 - T2269 COSM4722009 c.792T>C p.V264V Substitution - coding silent 2:101289044-101289044 - RK212_C01 COSM3743243 c.667T>C p.Y223H Substitution - Missense 2:101294975-101294975 - PTC-515C COSM4132921 c.25A>G p.S9G Substitution - Missense 2:101308564-101308564 - PD4093a COSM164043 c.545C>G p.T182R Substitution - Missense 2:101295097-101295097 - TCGA-CJ-4894-01 COSM2980215 c.1110G>A p.Q370Q Substitution - coding silent 2:101281908-101281908 - CSCC-38-T COSM4460725 c.1178C>G p.S393C Substitution - Missense 2:101277263-101277263 - 3N41-VS-3T41 COSM4981812 c.621C>T p.A207A Substitution - coding silent 2:101295021-101295021 - PT48 COSM5931021 c.461-7C>T p.? Unknown 2:101295188-101295188 - TCGA-D1-A163-01 COSM1004571 c.566C>A p.T189N Substitution - Missense 2:101295076-101295076 - HCC1395 COSM32724 c.19G>A p.E7K Substitution - Missense 2:101308570-101308570 - Pat_60_A COSM5859771 c.1094C>T p.A365V Substitution - Missense 2:101281924-101281924 - PTC-10C COSM4132921 c.25A>G p.S9G Substitution - Missense 2:101308564-101308564 - T2 COSM2980227 c.624C>T p.F208F Substitution - coding silent 2:101295018-101295018 - TCGA-BR-4369-01 COSM4083803 c.1195A>T p.I399F Substitution - Missense 2:101277246-101277246 - TCGA-AD-6889-01 COSM1398447 c.910C>T p.R304* Substitution - Nonsense 2:101286131-101286131 - TCGA-39-5028-01 COSM714973 c.125T>C p.V42A Substitution - Missense 2:101308464-101308464 - 587284 COSM1223910 c.676C>T p.R226C Substitution - Missense 2:101294966-101294966 - pfg181T COSM4759511 c.779A>G p.K260R Substitution - Missense 2:101294015-101294015 - S02376 COSM5697057 c.729T>C p.T243T Substitution - coding silent 2:101294065-101294065 - TCGA-BR-A4QL-01 COSM4083806 c.60G>A p.L20L Substitution - coding silent 2:101308529-101308529 - SA208 COSM213815 c.1082C>A p.S361* Substitution - Nonsense 2:101281936-101281936 - PD11399a COSM5779827 c.940A>T p.I314F Substitution - Missense 2:101286101-101286101 - CHC2111T COSM4957746 c.1024G>C p.A342P Substitution - Missense 2:101281994-101281994 - PT35 COSM5911715 c.1010G>A p.G337E Substitution - Missense 2:101282008-101282008 - T3225 COSM4722008 c.1119C>T p.P373P Substitution - coding silent 2:101281899-101281899 - AOCS-171-3-8 COSM4128060 c.684A>G p.L228L Substitution - coding silent 2:101294958-101294958 - CHC2111T COSM4957746 c.1024G>C p.A342P Substitution - Missense 2:101281994-101281994 - CHC1756T COSM4804452 c.381G>T p.A127A Substitution - coding silent 2:101308208-101308208 - 587222 COSM1223909 c.848G>T p.R283I Substitution - Missense 2:101288988-101288988 - PD8644a COSM3720425 c.939C>T p.V313V Substitution - coding silent 2:101286102-101286102 - TCGA-EE-A29G-06 COSM3564357 c.203C>T p.S68L Substitution - Missense 2:101308386-101308386 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.142074 2q11.2 2451402|CGAP|BC019355|C/G|coding|Glu356Asp|1146|Validated; 2451402|CGAP|BC032328|C/G|coding|Glu356Asp|1157|Validated; 2451402|CGAP|BC045743|C/G|coding|Glu356Asp|1169|Validated; 2451405|CGAP|BC019355|C/T|coding|Ile314Ile|1020|Candidate; 2451405|CGAP|BC032328|C/T|coding|Ile314Ile|1031|Candidate; 2451405|CGAP|BC045743|C/T|coding|Ile314Ile|1043|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.V42A c.125T>C 2 101924926 LUSC C A Missense p.A30S c.88G>T 2 101924963 LUAD C A Missense p.G396V c.1187G>T 2 101893716 PRAD C G Missense p.R31P c.92G>C 2 101924959 ESCA C T Missense p.M162I c.486G>A 2 101911618 OV C T Missense p.R115H c.344G>A 2 101924707 PRAD C T Missense p.S345N c.1034G>A 2 101898446 COREAD C T Synonymous p.Q370Q c.1110G>A 2 101898370 RCCC G A IntronicSNV . c.864-60C>T 2 101902699 CM G A Missense p.E7K c.19G>A 2 101925032 BRCA G A Missense p.P166L c.497C>T 2 101911607 CM G A Missense p.S68L c.203C>T 2 101924848 CM G A Synonymous p.G389G c.1167C>T 2 101893736 LUSC G C Missense p.T182R c.545C>G 2 101911559 BRCA G T Missense p.T189N c.566C>A 2 101911538 UCEC G T Nonsense p.S361* c.1082C>A 2 101898398 BRCA G T Synonymous p.P373P c.1119C>A 2 101898361 NB T A Missense p.I399F c.1195A>T 2 101893708 STAD T C Missense p.M211V c.631A>G 2 101911473 NSCLC