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 17 33338994 33338994 + Missense_Mutation SNP C C T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr17:33338994C>T c.1085G>A c.(1084-1086)cGg>cAg p.R362Q BLCA 17 33343554 33343554 + Missense_Mutation SNP G G C TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr17:33343554G>C c.721C>G c.(721-723)Ctg>Gtg p.L241V BRCA 17 33344550 33344550 + Missense_Mutation SNP C C T TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr17:33344550C>T c.667G>A c.(667-669)Gag>Aag p.E223K BRCA 17 33348610 33348610 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 g.chr17:33348610C>G c.371G>C c.(370-372)cGg>cCg p.R124P BRCA 17 33353466 33353466 + Missense_Mutation SNP G G A TCGA-AC-A2B8-01A-11D-A17D-09 TCGA-AC-A2B8-10A-01D-A17D-09 g.chr17:33353466G>A c.107C>T c.(106-108)tCc>tTc p.S36F CESC 17 33348478 33348478 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr17:33348478C>A c.503G>T c.(502-504)aGc>aTc p.S168I CESC 17 33348523 33348523 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr17:33348523G>C c.458C>G c.(457-459)cCa>cGa p.P153R CESC 17 33353531 33353531 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr17:33353531C>G c.42G>C c.(40-42)caG>caC p.Q14H COAD 17 33339131 33339131 + Silent SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:33339131A>G c.948T>C c.(946-948)tgT>tgC p.C316C COAD 17 33343448 33343448 + Nonsense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr17:33343448C>T c.827G>A c.(826-828)tGg>tAg p.W276* COADREAD 17 33339131 33339131 + Silent SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:33339131A>G c.948T>C c.(946-948)tgT>tgC p.C316C COADREAD 17 33343448 33343448 + Nonsense_Mutation SNP C C T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr17:33343448C>T c.827G>A c.(826-828)tGg>tAg p.W276* DLBC 17 33348541 33348541 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:33348541C>T c.440G>A c.(439-441)cGt>cAt p.R147H DLBC 17 33348541 33348541 + Missense_Mutation SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr17:33348541C>T c.440G>A c.(439-441)cGt>cAt p.R147H ESCA 17 33339111 33339111 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr17:33339111G>A c.968C>T c.(967-969)cCc>cTc p.P323L ESCA 17 33348699 33348699 + Silent SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr17:33348699T>C c.282A>G c.(280-282)acA>acG p.T94T ESCA 17 33353417 33353417 + Silent SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr17:33353417A>G c.156T>C c.(154-156)gcT>gcC p.A52A HNSC 17 33338994 33338994 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr17:33338994C>T c.1085G>A c.(1084-1086)cGg>cAg p.R362Q HNSC 17 33339032 33339032 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr17:33339032G>C c.1047C>G c.(1045-1047)atC>atG p.I349M HNSC 17 33339097 33339097 + Missense_Mutation SNP G G C TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr17:33339097G>C c.982C>G c.(982-984)Ctt>Gtt p.L328V HNSC 17 33341759 33341759 + Splice_Site SNP C C T TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr17:33341759C>T c.910G>A c.(910-912)Ggg>Agg p.G304R HNSC 17 33343399 33343399 + Silent SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr17:33343399G>C c.876C>G c.(874-876)ctC>ctG p.L292L HNSC 17 33343508 33343508 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr17:33343508C>T c.767G>A c.(766-768)cGg>cAg p.R256Q HNSC 17 33348470 33348470 + Missense_Mutation SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 g.chr17:33348470G>T c.511C>A c.(511-513)Cca>Aca p.P171T HNSC 17 33348692 33348692 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr17:33348692G>A c.289C>T c.(289-291)Cag>Tag p.Q97* HNSC 17 33353416 33353416 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 g.chr17:33353416G>C c.157C>G c.(157-159)Cac>Gac p.H53D KIPAN 17 33348596 33348596 + Silent SNP G G A TCGA-B4-5377-01A-01D-1501-10 TCGA-B4-5377-10A-01D-1501-10 g.chr17:33348596G>A c.385C>T c.(385-387)Ctg>Ttg p.L129L KIPAN 17 33348798 33348798 + Silent SNP C C T TCGA-F9-A7Q0-01A-11D-A35Z-10 TCGA-F9-A7Q0-10B-01D-A35Z-10 g.chr17:33348798C>T c.183G>A c.(181-183)caG>caA p.Q61Q KIRC 17 33348596 33348596 + Silent SNP G G A TCGA-B4-5377-01A-01D-1501-10 TCGA-B4-5377-10A-01D-1501-10 g.chr17:33348596G>A c.385C>T c.(385-387)Ctg>Ttg p.L129L KIRP 17 33348798 33348798 + Silent SNP C C T TCGA-F9-A7Q0-01A-11D-A35Z-10 TCGA-F9-A7Q0-10B-01D-A35Z-10 g.chr17:33348798C>T c.183G>A c.(181-183)caG>caA p.Q61Q LIHC 17 33339090 33339090 + Missense_Mutation SNP T T C TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr17:33339090T>C c.989A>G c.(988-990)gAg>gGg p.E330G LUAD 17 33339091 33339091 + Nonsense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr17:33339091C>A c.988G>T c.(988-990)Gag>Tag p.E330* LUAD 17 33343556 33343556 + Missense_Mutation SNP G G C TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr17:33343556G>C c.719C>G c.(718-720)tCt>tGt p.S240C LUAD 17 33343586 33343586 + Missense_Mutation SNP T T A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr17:33343586T>A c.689A>T c.(688-690)gAg>gTg p.E230V LUAD 17 33348594 33348594 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:33348594C>G c.387G>C c.(385-387)ctG>ctC p.L129L LUAD 17 33348651 33348651 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 g.chr17:33348651C>A c.330G>T c.(328-330)agG>agT p.R110S LUAD 17 33348688 33348688 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr17:33348688C>A c.293G>T c.(292-294)cGa>cTa p.R98L LUAD 17 33348712 33348712 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr17:33348712C>A c.269G>T c.(268-270)cGg>cTg p.R90L LUAD 17 33353469 33353469 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr17:33353469C>A c.104G>T c.(103-105)aGc>aTc p.S35I OV 17 33353479 33353479 + Missense_Mutation SNP G G T TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 g.chr17:33353479G>T c.94C>A c.(94-96)Cct>Act p.P32T PAAD 17 33348430 33348430 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:33348430G>A c.551C>T c.(550-552)gCc>gTc p.A184V PAAD 17 33348547 33348547 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:33348547C>T c.434G>A c.(433-435)aGg>aAg p.R145K PRAD 17 33339066 33339066 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:33339066G>A c.1013C>T c.(1012-1014)aCc>aTc p.T338I PRAD 17 33341759 33341759 + Splice_Site SNP C C T TCGA-HC-A631-01A-11D-A29Q-08 TCGA-HC-A631-10A-01D-A29Q-08 g.chr17:33341759C>T c.910G>A c.(910-912)Ggg>Agg p.G304R PRAD 17 33344575 33344575 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr17:33344575G>A c.642C>T c.(640-642)agC>agT p.S214S SKCM 17 33343492 33343492 + Silent SNP G G T TCGA-EE-A185-06A-11D-A196-08 TCGA-EE-A185-10A-01D-A198-08 g.chr17:33343492G>T c.783C>A c.(781-783)atC>atA p.I261I SKCM 17 33348531 33348531 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr17:33348531G>A c.450C>T c.(448-450)acC>acT p.T150T SKCM 17 33348624 33348624 + Silent SNP A A T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr17:33348624A>T c.357T>A c.(355-357)tcT>tcA p.S119S SKCM 17 33348757 33348757 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr17:33348757G>A c.224C>T c.(223-225)tCg>tTg p.S75L SKCM 17 33353427 33353427 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr17:33353427G>A c.146C>T c.(145-147)tCc>tTc p.S49F SKCM 17 33353483 33353483 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr17:33353483G>A c.90C>T c.(88-90)tcC>tcT p.S30S

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 17 33343550 33343550 single base substitution G C downstream_gene_variant BLCA-CN 17 33343550 33343550 single base substitution G C exon_variant BLCA-CN 17 33343550 33343550 single base substitution G C missense_variant S105C 314C>G BLCA-CN 17 33343550 33343550 single base substitution G C missense_variant S214C 641C>G BLCA-CN 17 33343550 33343550 single base substitution G C missense_variant S242C 725C>G BLCA-CN 17 33343550 33343550 single base substitution G C missense_variant S30C 89C>G BOCA-FR 17 33356030 33356030 single base substitution C A intron_variant BOCA-FR 17 33356030 33356030 single base substitution C A upstream_gene_variant BOCA-FR 17 33409320 33409320 single base substitution G A intron_variant BOCA-FR 17 33416246 33416246 single base substitution G A 5_prime_UTR_variant BOCA-FR 17 33416246 33416246 single base substitution G A exon_variant BOCA-FR 17 33416246 33416246 single base substitution G A upstream_gene_variant BRCA-EU 17 33328448 33328448 single base substitution A T downstream_gene_variant BRCA-EU 17 33329580 33329580 single base substitution C T downstream_gene_variant BRCA-EU 17 33330444 33330444 single base substitution C T downstream_gene_variant BRCA-EU 17 33330508 33330508 single base substitution A T downstream_gene_variant BRCA-EU 17 33331009 33331009 single base substitution G T downstream_gene_variant BRCA-EU 17 33331513 33331513 single base substitution A G downstream_gene_variant BRCA-EU 17 33331535 33331535 single base substitution C G downstream_gene_variant BRCA-EU 17 33332074 33332074 single base substitution T G downstream_gene_variant BRCA-EU 17 33332086 33332086 single base substitution C T downstream_gene_variant BRCA-EU 17 33333594 33333594 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 33333594 33333594 single base substitution C G downstream_gene_variant BRCA-EU 17 33335074 33335074 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 33335074 33335074 single base substitution C A downstream_gene_variant BRCA-EU 17 33335074 33335074 single base substitution C A exon_variant BRCA-EU 17 33335723 33335723 single base substitution T G 3_prime_UTR_variant BRCA-EU 17 33335723 33335723 single base substitution T G downstream_gene_variant BRCA-EU 17 33335723 33335723 single base substitution T G upstream_gene_variant BRCA-EU 17 33335744 33335744 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 33335744 33335744 single base substitution G A downstream_gene_variant BRCA-EU 17 33335744 33335744 single base substitution G A upstream_gene_variant BRCA-EU 17 33337756 33337756 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 33337756 33337756 single base substitution G C downstream_gene_variant BRCA-EU 17 33337756 33337756 single base substitution G C upstream_gene_variant BRCA-EU 17 33338117 33338117 single base substitution A C 3_prime_UTR_variant BRCA-EU 17 33338117 33338117 single base substitution A C downstream_gene_variant BRCA-EU 17 33338117 33338117 single base substitution A C upstream_gene_variant BRCA-EU 17 33342720 33342720 single base substitution T A downstream_gene_variant BRCA-EU 17 33342720 33342720 single base substitution T A intron_variant BRCA-EU 17 33343400 33343400 single base substitution A C downstream_gene_variant BRCA-EU 17 33343400 33343400 single base substitution A C exon_variant BRCA-EU 17 33343400 33343400 single base substitution A C missense_variant L264R 791T>G BRCA-EU 17 33343400 33343400 single base substitution A C missense_variant L292R 875T>G BRCA-EU 17 33343400 33343400 single base substitution A C missense_variant L80R 239T>G BRCA-EU 17 33345197 33345197 single base substitution C G downstream_gene_variant BRCA-EU 17 33345197 33345197 single base substitution C G intron_variant BRCA-EU 17 33350555 33350555 single base substitution G T intron_variant BRCA-EU 17 33350555 33350555 single base substitution G T upstream_gene_variant BRCA-EU 17 33351183 33351183 single base substitution C G intron_variant BRCA-EU 17 33351183 33351183 single base substitution C G upstream_gene_variant BRCA-EU 17 33351861 33351862 deletion of <=200bp AT - intron_variant BRCA-EU 17 33351861 33351862 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 17 33352095 33352095 single base substitution G A intron_variant BRCA-EU 17 33352095 33352095 single base substitution G A upstream_gene_variant BRCA-EU 17 33352326 33352326 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 33352326 33352326 single base substitution C T intron_variant BRCA-EU 17 33352326 33352326 single base substitution C T upstream_gene_variant BRCA-EU 17 33354098 33354098 single base substitution G T intron_variant BRCA-EU 17 33354098 33354098 single base substitution G T upstream_gene_variant BRCA-EU 17 33354138 33354138 single base substitution C T intron_variant BRCA-EU 17 33354138 33354138 single base substitution C T upstream_gene_variant BRCA-EU 17 33355837 33355837 single base substitution T A intron_variant BRCA-EU 17 33355837 33355837 single base substitution T A upstream_gene_variant BRCA-EU 17 33356711 33356711 deletion of <=200bp T - intron_variant BRCA-EU 17 33356711 33356711 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 33360745 33360745 single base substitution G A intron_variant BRCA-EU 17 33364987 33364987 single base substitution A G intron_variant BRCA-EU 17 33365405 33365405 single base substitution C T intron_variant BRCA-EU 17 33365980 33365980 single base substitution T C intron_variant BRCA-EU 17 33366307 33366307 single base substitution C T intron_variant BRCA-EU 17 33366612 33366612 single base substitution C T intron_variant BRCA-EU 17 33367513 33367513 single base substitution T A intron_variant BRCA-EU 17 33369476 33369476 single base substitution C T intron_variant BRCA-EU 17 33369476 33369476 single base substitution C T upstream_gene_variant BRCA-EU 17 33369674 33369674 single base substitution C T intron_variant BRCA-EU 17 33369674 33369674 single base substitution C T upstream_gene_variant BRCA-EU 17 33370669 33370669 single base substitution T C intron_variant BRCA-EU 17 33370669 33370669 single base substitution T C upstream_gene_variant BRCA-EU 17 33371496 33371496 single base substitution C A intron_variant BRCA-EU 17 33371496 33371496 single base substitution C A upstream_gene_variant BRCA-EU 17 33372061 33372061 single base substitution G C intron_variant BRCA-EU 17 33372061 33372061 single base substitution G C upstream_gene_variant BRCA-EU 17 33372230 33372230 single base substitution T C intron_variant BRCA-EU 17 33372230 33372230 single base substitution T C upstream_gene_variant BRCA-EU 17 33377415 33377415 single base substitution C G intron_variant BRCA-EU 17 33377739 33377739 single base substitution G A intron_variant BRCA-EU 17 33378657 33378657 single base substitution C T intron_variant BRCA-EU 17 33379055 33379055 single base substitution C G intron_variant BRCA-EU 17 33379171 33379171 single base substitution C G intron_variant BRCA-EU 17 33379178 33379178 single base substitution C G intron_variant BRCA-EU 17 33379511 33379511 single base substitution C T intron_variant BRCA-EU 17 33379779 33379779 single base substitution C G intron_variant BRCA-EU 17 33379931 33379931 single base substitution A C intron_variant BRCA-EU 17 33380009 33380009 single base substitution C T intron_variant BRCA-EU 17 33380015 33380015 single base substitution C T intron_variant BRCA-EU 17 33380603 33380603 single base substitution C G intron_variant BRCA-EU 17 33380974 33380974 single base substitution C T intron_variant BRCA-EU 17 33386087 33386087 single base substitution G T intron_variant BRCA-EU 17 33387616 33387616 single base substitution T C intron_variant BRCA-EU 17 33389332 33389332 single base substitution G C intron_variant BRCA-EU 17 33389717 33389717 single base substitution G C intron_variant BRCA-EU 17 33390684 33390684 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 33390684 33390684 single base substitution G A intron_variant BRCA-EU 17 33391807 33391807 single base substitution C A intron_variant BRCA-EU 17 33391807 33391807 single base substitution C A upstream_gene_variant BRCA-EU 17 33393330 33393330 single base substitution C G intron_variant BRCA-EU 17 33393330 33393330 single base substitution C G upstream_gene_variant BRCA-EU 17 33393346 33393346 single base substitution C G intron_variant BRCA-EU 17 33393346 33393346 single base substitution C G upstream_gene_variant BRCA-EU 17 33394176 33394176 single base substitution G A intron_variant BRCA-EU 17 33394176 33394176 single base substitution G A upstream_gene_variant BRCA-EU 17 33394616 33394616 single base substitution A T intron_variant BRCA-EU 17 33394616 33394616 single base substitution A T upstream_gene_variant BRCA-EU 17 33397116 33397116 single base substitution T C intron_variant BRCA-EU 17 33397895 33397895 single base substitution G A intron_variant BRCA-EU 17 33398107 33398107 single base substitution C T intron_variant BRCA-EU 17 33398309 33398309 single base substitution G A intron_variant BRCA-EU 17 33398340 33398340 single base substitution G A intron_variant BRCA-EU 17 33399035 33399035 single base substitution C G intron_variant BRCA-EU 17 33399109 33399109 single base substitution G A intron_variant BRCA-EU 17 33399195 33399195 single base substitution G A intron_variant BRCA-EU 17 33399211 33399211 single base substitution G A intron_variant BRCA-EU 17 33399500 33399500 single base substitution G A intron_variant BRCA-EU 17 33399645 33399645 single base substitution G A intron_variant BRCA-EU 17 33399666 33399666 single base substitution G A intron_variant BRCA-EU 17 33399668 33399668 single base substitution G A intron_variant BRCA-EU 17 33399764 33399764 single base substitution T C intron_variant BRCA-EU 17 33399839 33399839 single base substitution G A intron_variant BRCA-EU 17 33401413 33401413 single base substitution T C intron_variant BRCA-EU 17 33401971 33401971 single base substitution C G intron_variant BRCA-EU 17 33402307 33402307 single base substitution G C intron_variant BRCA-EU 17 33402399 33402399 single base substitution G A intron_variant BRCA-EU 17 33402438 33402438 single base substitution A G intron_variant BRCA-EU 17 33402505 33402505 single base substitution G A intron_variant BRCA-EU 17 33403446 33403446 single base substitution T C intron_variant BRCA-EU 17 33405042 33405042 deletion of <=200bp T - intron_variant BRCA-EU 17 33405269 33405269 deletion of <=200bp A - intron_variant BRCA-EU 17 33407637 33407637 single base substitution G A intron_variant BRCA-EU 17 33408116 33408116 single base substitution G T intron_variant BRCA-EU 17 33408162 33408162 deletion of <=200bp A - intron_variant BRCA-EU 17 33408491 33408491 single base substitution C T intron_variant BRCA-EU 17 33409123 33409123 single base substitution A G intron_variant BRCA-EU 17 33409254 33409254 single base substitution G C intron_variant BRCA-EU 17 33411253 33411253 insertion of <=200bp - A intron_variant BRCA-EU 17 33411264 33411264 single base substitution T A intron_variant BRCA-EU 17 33411367 33411367 single base substitution C T intron_variant BRCA-EU 17 33414070 33414070 single base substitution T C intron_variant BRCA-EU 17 33415158 33415158 single base substitution T A intron_variant BRCA-EU 17 33415452 33415452 single base substitution G C intron_variant BRCA-EU 17 33415898 33415898 single base substitution G C intron_variant BRCA-EU 17 33415898 33415898 single base substitution G C upstream_gene_variant BRCA-EU 17 33416257 33416257 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 33416257 33416257 single base substitution G A exon_variant BRCA-EU 17 33416257 33416257 single base substitution G A upstream_gene_variant BRCA-EU 17 33416985 33416985 single base substitution G C upstream_gene_variant BRCA-EU 17 33417844 33417844 single base substitution G T upstream_gene_variant BRCA-EU 17 33417930 33417930 single base substitution C G upstream_gene_variant BRCA-EU 17 33418402 33418402 single base substitution C G upstream_gene_variant BRCA-EU 17 33418498 33418498 single base substitution G A upstream_gene_variant BRCA-EU 17 33418677 33418677 single base substitution A G upstream_gene_variant BRCA-EU 17 33419102 33419102 single base substitution C G upstream_gene_variant BRCA-EU 17 33419164 33419164 single base substitution C T upstream_gene_variant BRCA-EU 17 33419349 33419349 single base substitution T C upstream_gene_variant BRCA-EU 17 33419653 33419653 single base substitution C G upstream_gene_variant BRCA-EU 17 33420302 33420302 single base substitution C T upstream_gene_variant BRCA-EU 17 33421119 33421120 deletion of <=200bp CT - upstream_gene_variant BRCA-FR 17 33333594 33333594 single base substitution C G 3_prime_UTR_variant BRCA-FR 17 33333594 33333594 single base substitution C G downstream_gene_variant BRCA-FR 17 33334126 33334126 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 33334126 33334126 single base substitution G A downstream_gene_variant BRCA-FR 17 33335744 33335744 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 33335744 33335744 single base substitution G A downstream_gene_variant BRCA-FR 17 33335744 33335744 single base substitution G A upstream_gene_variant BRCA-FR 17 33345197 33345197 single base substitution C G downstream_gene_variant BRCA-FR 17 33345197 33345197 single base substitution C G intron_variant BRCA-FR 17 33362746 33362746 single base substitution G C intron_variant BRCA-FR 17 33380974 33380974 single base substitution C T intron_variant BRCA-FR 17 33387616 33387616 single base substitution T C intron_variant BRCA-FR 17 33393330 33393330 single base substitution C G intron_variant BRCA-FR 17 33393330 33393330 single base substitution C G upstream_gene_variant BRCA-FR 17 33393346 33393346 single base substitution C G intron_variant BRCA-FR 17 33393346 33393346 single base substitution C G upstream_gene_variant BRCA-FR 17 33393505 33393505 single base substitution C T intron_variant BRCA-FR 17 33393505 33393505 single base substitution C T upstream_gene_variant BRCA-FR 17 33394616 33394616 single base substitution A T intron_variant BRCA-FR 17 33394616 33394616 single base substitution A T upstream_gene_variant BRCA-FR 17 33397116 33397116 single base substitution T C intron_variant BRCA-FR 17 33397895 33397895 single base substitution G A intron_variant BRCA-FR 17 33398309 33398309 single base substitution G A intron_variant BRCA-FR 17 33398340 33398340 single base substitution G A intron_variant BRCA-FR 17 33399109 33399109 single base substitution G A intron_variant BRCA-FR 17 33399195 33399195 single base substitution G A intron_variant BRCA-FR 17 33399211 33399211 single base substitution G A intron_variant BRCA-FR 17 33399500 33399500 single base substitution G A intron_variant BRCA-FR 17 33399645 33399645 single base substitution G A intron_variant BRCA-FR 17 33399839 33399839 single base substitution G A intron_variant BRCA-FR 17 33400228 33400228 single base substitution G A intron_variant BRCA-FR 17 33401971 33401971 single base substitution C G intron_variant BRCA-FR 17 33402307 33402307 single base substitution G C intron_variant BRCA-FR 17 33402399 33402399 single base substitution G A intron_variant BRCA-FR 17 33407637 33407637 single base substitution G A intron_variant BRCA-FR 17 33409254 33409254 single base substitution G C intron_variant BRCA-FR 17 33410336 33410336 single base substitution C T intron_variant BRCA-FR 17 33415452 33415452 single base substitution G C intron_variant BRCA-FR 17 33418045 33418045 single base substitution C A upstream_gene_variant BRCA-FR 17 33418402 33418402 single base substitution C G upstream_gene_variant BRCA-UK 17 33331009 33331009 single base substitution G T downstream_gene_variant BRCA-UK 17 33333761 33333761 single base substitution C T 3_prime_UTR_variant BRCA-UK 17 33333761 33333761 single base substitution C T downstream_gene_variant BRCA-UK 17 33355279 33355279 single base substitution G A intron_variant BRCA-UK 17 33355279 33355279 single base substitution G A upstream_gene_variant BRCA-UK 17 33355289 33355289 single base substitution G C intron_variant BRCA-UK 17 33355289 33355289 single base substitution G C upstream_gene_variant BRCA-UK 17 33371496 33371496 single base substitution C A intron_variant BRCA-UK 17 33371496 33371496 single base substitution C A upstream_gene_variant BRCA-UK 17 33418498 33418498 single base substitution G A upstream_gene_variant BRCA-US 17 33344550 33344550 single base substitution C T downstream_gene_variant BRCA-US 17 33344550 33344550 single base substitution C T exon_variant BRCA-US 17 33344550 33344550 single base substitution C T intron_variant BRCA-US 17 33344550 33344550 single base substitution C T missense_variant E223K 667G>A BRCA-US 17 33344550 33344550 single base substitution C T missense_variant E86K 256G>A BRCA-US 17 33348610 33348610 single base substitution C G downstream_gene_variant BRCA-US 17 33348610 33348610 single base substitution C G intron_variant BRCA-US 17 33348610 33348610 single base substitution C G missense_variant R124P 371G>C BRCA-US 17 33348610 33348610 single base substitution C G upstream_gene_variant BRCA-US 17 33353466 33353466 single base substitution G A exon_variant BRCA-US 17 33353466 33353466 single base substitution G A intron_variant BRCA-US 17 33353466 33353466 single base substitution G A missense_variant S36F 107C>T BTCA-JP 17 33328496 33328496 single base substitution T C downstream_gene_variant BTCA-JP 17 33343566 33343566 single base substitution G A downstream_gene_variant BTCA-JP 17 33343566 33343566 single base substitution G A exon_variant BTCA-JP 17 33343566 33343566 single base substitution G A stop_gained R100* 298C>T BTCA-JP 17 33343566 33343566 single base substitution G A stop_gained R209* 625C>T BTCA-JP 17 33343566 33343566 single base substitution G A stop_gained R237* 709C>T BTCA-JP 17 33343566 33343566 single base substitution G A stop_gained R25* 73C>T CESC-US 17 33328397 33328397 single base substitution C G downstream_gene_variant CESC-US 17 33348478 33348478 single base substitution C A downstream_gene_variant CESC-US 17 33348478 33348478 single base substitution C A intron_variant CESC-US 17 33348478 33348478 single base substitution C A missense_variant S168I 503G>T CESC-US 17 33348478 33348478 single base substitution C A upstream_gene_variant CESC-US 17 33348523 33348523 single base substitution G C downstream_gene_variant CESC-US 17 33348523 33348523 single base substitution G C intron_variant CESC-US 17 33348523 33348523 single base substitution G C missense_variant P153R 458C>G CESC-US 17 33348523 33348523 single base substitution G C upstream_gene_variant CESC-US 17 33353531 33353531 single base substitution C G exon_variant CESC-US 17 33353531 33353531 single base substitution C G intron_variant CESC-US 17 33353531 33353531 single base substitution C G missense_variant Q14H 42G>C CLLE-ES 17 33336616 33336616 single base substitution A G 3_prime_UTR_variant CLLE-ES 17 33336616 33336616 single base substitution A G downstream_gene_variant CLLE-ES 17 33336616 33336616 single base substitution A G upstream_gene_variant CLLE-ES 17 33373775 33373775 single base substitution A C intron_variant CLLE-ES 17 33373775 33373775 single base substitution A C upstream_gene_variant CLLE-ES 17 33380610 33380610 single base substitution A G intron_variant COAD-US 17 33331331 33331331 single base substitution C T downstream_gene_variant COAD-US 17 33331361 33331361 single base substitution A G downstream_gene_variant COAD-US 17 33343447 33343447 single base substitution C T downstream_gene_variant COAD-US 17 33343447 33343447 single base substitution C T exon_variant COAD-US 17 33343447 33343447 single base substitution C T stop_gained W248* 744G>A COAD-US 17 33343447 33343447 single base substitution C T stop_gained W276* 828G>A COAD-US 17 33343447 33343447 single base substitution C T stop_gained W64* 192G>A COAD-US 17 33343448 33343448 single base substitution C T downstream_gene_variant COAD-US 17 33343448 33343448 single base substitution C T exon_variant COAD-US 17 33343448 33343448 single base substitution C T stop_gained W248* 743G>A COAD-US 17 33343448 33343448 single base substitution C T stop_gained W276* 827G>A COAD-US 17 33343448 33343448 single base substitution C T stop_gained W64* 191G>A COCA-CN 17 33329885 33329885 single base substitution T G downstream_gene_variant COCA-CN 17 33348816 33348816 single base substitution G A intron_variant COCA-CN 17 33348816 33348816 single base substitution G A upstream_gene_variant EOPC-DE 17 33415994 33415994 single base substitution C A intron_variant EOPC-DE 17 33415994 33415994 single base substitution C A upstream_gene_variant ESAD-UK 17 33328069 33328069 single base substitution G A downstream_gene_variant ESAD-UK 17 33328804 33328804 single base substitution C T downstream_gene_variant ESAD-UK 17 33329211 33329211 single base substitution C A downstream_gene_variant ESAD-UK 17 33333946 33333946 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 33333946 33333946 single base substitution C T downstream_gene_variant ESAD-UK 17 33334992 33334992 single base substitution T C 3_prime_UTR_variant ESAD-UK 17 33334992 33334992 single base substitution T C downstream_gene_variant ESAD-UK 17 33334992 33334992 single base substitution T C exon_variant ESAD-UK 17 33335052 33335052 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 33335052 33335052 single base substitution G A downstream_gene_variant ESAD-UK 17 33335052 33335052 single base substitution G A exon_variant ESAD-UK 17 33337361 33337361 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 33337361 33337361 single base substitution C T downstream_gene_variant ESAD-UK 17 33337361 33337361 single base substitution C T upstream_gene_variant ESAD-UK 17 33338940 33338940 single base substitution C G 3_prime_UTR_variant ESAD-UK 17 33338940 33338940 single base substitution C G downstream_gene_variant ESAD-UK 17 33338940 33338940 single base substitution C G upstream_gene_variant ESAD-UK 17 33339418 33339418 single base substitution G T downstream_gene_variant ESAD-UK 17 33339418 33339418 single base substitution G T intron_variant ESAD-UK 17 33339418 33339418 single base substitution G T upstream_gene_variant ESAD-UK 17 33341092 33341092 single base substitution C T downstream_gene_variant ESAD-UK 17 33341092 33341092 single base substitution C T intron_variant ESAD-UK 17 33341909 33341909 single base substitution T C downstream_gene_variant ESAD-UK 17 33341909 33341909 single base substitution T C intron_variant ESAD-UK 17 33343722 33343722 single base substitution G C downstream_gene_variant ESAD-UK 17 33343722 33343722 single base substitution G C intron_variant ESAD-UK 17 33350971 33350971 single base substitution G T intron_variant ESAD-UK 17 33350971 33350971 single base substitution G T upstream_gene_variant ESAD-UK 17 33351926 33351941 deletion of <=200bp TTGTAGCAAGAAAATA - intron_variant ESAD-UK 17 33351926 33351941 deletion of <=200bp TTGTAGCAAGAAAATA - upstream_gene_variant ESAD-UK 17 33352258 33352258 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 33352258 33352258 single base substitution C T intron_variant ESAD-UK 17 33352258 33352258 single base substitution C T upstream_gene_variant ESAD-UK 17 33354038 33354038 single base substitution T C intron_variant ESAD-UK 17 33354038 33354038 single base substitution T C upstream_gene_variant ESAD-UK 17 33355992 33355992 single base substitution T C intron_variant ESAD-UK 17 33355992 33355992 single base substitution T C upstream_gene_variant ESAD-UK 17 33361956 33361956 single base substitution G A intron_variant ESAD-UK 17 33364679 33364679 single base substitution A C intron_variant ESAD-UK 17 33366453 33366453 single base substitution G A intron_variant ESAD-UK 17 33367142 33367142 single base substitution G C intron_variant ESAD-UK 17 33367170 33367170 single base substitution C T intron_variant ESAD-UK 17 33368213 33368213 single base substitution T A intron_variant ESAD-UK 17 33368710 33368710 deletion of <=200bp T - intron_variant ESAD-UK 17 33370054 33370054 single base substitution G A intron_variant ESAD-UK 17 33370054 33370054 single base substitution G A upstream_gene_variant ESAD-UK 17 33370371 33370371 single base substitution G A intron_variant ESAD-UK 17 33370371 33370371 single base substitution G A upstream_gene_variant ESAD-UK 17 33371315 33371315 single base substitution T G intron_variant ESAD-UK 17 33371315 33371315 single base substitution T G upstream_gene_variant ESAD-UK 17 33373975 33373975 single base substitution A C intron_variant ESAD-UK 17 33373975 33373975 single base substitution A C upstream_gene_variant ESAD-UK 17 33374383 33374383 single base substitution A C intron_variant ESAD-UK 17 33377202 33377202 single base substitution C T intron_variant ESAD-UK 17 33379735 33379735 single base substitution C T intron_variant ESAD-UK 17 33384782 33384782 single base substitution C T intron_variant ESAD-UK 17 33385715 33385715 single base substitution G A intron_variant ESAD-UK 17 33387840 33387840 single base substitution C G intron_variant ESAD-UK 17 33389337 33389337 single base substitution G A intron_variant ESAD-UK 17 33390521 33390521 single base substitution G A intron_variant ESAD-UK 17 33396312 33396312 single base substitution C A intron_variant ESAD-UK 17 33396312 33396312 single base substitution C A splice_donor_variant ESAD-UK 17 33400474 33400474 single base substitution T C intron_variant ESAD-UK 17 33405489 33405489 single base substitution T A intron_variant ESAD-UK 17 33407120 33407120 single base substitution C T intron_variant ESAD-UK 17 33407562 33407562 single base substitution C T intron_variant ESAD-UK 17 33408626 33408626 single base substitution G C intron_variant ESAD-UK 17 33410888 33410888 insertion of <=200bp - C intron_variant ESAD-UK 17 33412753 33412753 single base substitution C T intron_variant ESAD-UK 17 33413943 33413943 single base substitution C G intron_variant ESAD-UK 17 33415705 33415705 single base substitution G A intron_variant ESAD-UK 17 33415715 33415715 single base substitution G T intron_variant ESAD-UK 17 33417225 33417227 deletion of <=200bp CTT - upstream_gene_variant ESAD-UK 17 33417347 33417347 single base substitution G A upstream_gene_variant KIRC-US 17 33348596 33348596 single base substitution G A downstream_gene_variant KIRC-US 17 33348596 33348596 single base substitution G A intron_variant KIRC-US 17 33348596 33348596 single base substitution G A synonymous_variant L129L 385C>T KIRC-US 17 33348596 33348596 single base substitution G A upstream_gene_variant LAML-KR 17 33341834 33341834 single base substitution T C downstream_gene_variant LAML-KR 17 33341834 33341834 single base substitution T C intron_variant LAML-KR 17 33354785 33354785 single base substitution T C intron_variant LAML-KR 17 33354785 33354785 single base substitution T C upstream_gene_variant LAML-KR 17 33394240 33394240 single base substitution A G intron_variant LAML-KR 17 33394240 33394240 single base substitution A G upstream_gene_variant LAML-KR 17 33394249 33394249 single base substitution T G intron_variant LAML-KR 17 33394249 33394249 single base substitution T G upstream_gene_variant LGG-US 17 33328319 33328319 single base substitution C T downstream_gene_variant LICA-FR 17 33337507 33337507 single base substitution T A 3_prime_UTR_variant LICA-FR 17 33337507 33337507 single base substitution T A downstream_gene_variant LICA-FR 17 33337507 33337507 single base substitution T A upstream_gene_variant LICA-FR 17 33354744 33354744 deletion of <=200bp A - intron_variant LICA-FR 17 33354744 33354744 deletion of <=200bp A - upstream_gene_variant LICA-FR 17 33356960 33356960 single base substitution G A intron_variant LICA-FR 17 33356960 33356960 single base substitution G A upstream_gene_variant LICA-FR 17 33357136 33357136 single base substitution G A intron_variant LICA-FR 17 33357136 33357136 single base substitution G A upstream_gene_variant LICA-FR 17 33377681 33377681 deletion of <=200bp A - intron_variant LICA-FR 17 33406027 33406027 single base substitution T C intron_variant LINC-JP 17 33339127 33339127 single base substitution T A downstream_gene_variant LINC-JP 17 33339127 33339127 single base substitution T A exon_variant LINC-JP 17 33339127 33339127 single base substitution T A missense_variant I106F 316A>T LINC-JP 17 33339127 33339127 single base substitution T A missense_variant I282F 844A>T LINC-JP 17 33339127 33339127 single base substitution T A missense_variant I310F 928A>T LINC-JP 17 33339127 33339127 single base substitution T A missense_variant I318F 952A>T LINC-JP 17 33339127 33339127 single base substitution T A upstream_gene_variant LINC-JP 17 33348721 33348721 single base substitution A C 3_prime_UTR_variant LINC-JP 17 33348721 33348721 single base substitution A C intron_variant LINC-JP 17 33348721 33348721 single base substitution A C missense_variant L87R 260T>G LINC-JP 17 33348721 33348721 single base substitution A C upstream_gene_variant LINC-JP 17 33348901 33348901 single base substitution C A intron_variant LINC-JP 17 33348901 33348901 single base substitution C A upstream_gene_variant LINC-JP 17 33349385 33349385 single base substitution T C intron_variant LINC-JP 17 33349385 33349385 single base substitution T C upstream_gene_variant LINC-JP 17 33368331 33368331 single base substitution T C intron_variant LINC-JP 17 33385777 33385777 single base substitution G A intron_variant LINC-JP 17 33388671 33388671 single base substitution A G intron_variant LINC-JP 17 33391309 33391309 insertion of <=200bp - T intron_variant LINC-JP 17 33391309 33391309 insertion of <=200bp - T upstream_gene_variant LINC-JP 17 33393365 33393365 single base substitution A C intron_variant LINC-JP 17 33393365 33393365 single base substitution A C upstream_gene_variant LINC-JP 17 33396859 33396859 single base substitution C A intron_variant LINC-JP 17 33403742 33403742 single base substitution G A intron_variant LIRI-JP 17 33328395 33328395 single base substitution A G downstream_gene_variant LIRI-JP 17 33328902 33328902 single base substitution T A downstream_gene_variant LIRI-JP 17 33329080 33329080 single base substitution C A downstream_gene_variant LIRI-JP 17 33330555 33330555 single base substitution A C downstream_gene_variant LIRI-JP 17 33331506 33331506 single base substitution G T downstream_gene_variant LIRI-JP 17 33333298 33333298 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 33333298 33333298 single base substitution C A downstream_gene_variant LIRI-JP 17 33333352 33333352 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 33333352 33333352 single base substitution C A downstream_gene_variant LIRI-JP 17 33333619 33333619 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 33333619 33333619 single base substitution T C downstream_gene_variant LIRI-JP 17 33333846 33333846 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 33333846 33333846 single base substitution T G downstream_gene_variant LIRI-JP 17 33334022 33334022 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 33334022 33334022 single base substitution C T downstream_gene_variant LIRI-JP 17 33334649 33334649 single base substitution A T 3_prime_UTR_variant LIRI-JP 17 33334649 33334649 single base substitution A T downstream_gene_variant LIRI-JP 17 33334649 33334649 single base substitution A T intron_variant LIRI-JP 17 33335216 33335216 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 33335216 33335216 single base substitution A G downstream_gene_variant LIRI-JP 17 33335216 33335216 single base substitution A G exon_variant LIRI-JP 17 33335435 33335435 single base substitution T A 3_prime_UTR_variant LIRI-JP 17 33335435 33335435 single base substitution T A downstream_gene_variant LIRI-JP 17 33335435 33335435 single base substitution T A upstream_gene_variant LIRI-JP 17 33335543 33335543 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 33335543 33335543 single base substitution T G downstream_gene_variant LIRI-JP 17 33335543 33335543 single base substitution T G upstream_gene_variant LIRI-JP 17 33336028 33336028 single base substitution T A 3_prime_UTR_variant LIRI-JP 17 33336028 33336028 single base substitution T A downstream_gene_variant LIRI-JP 17 33336028 33336028 single base substitution T A upstream_gene_variant LIRI-JP 17 33338407 33338407 single base substitution A T 3_prime_UTR_variant LIRI-JP 17 33338407 33338407 single base substitution A T downstream_gene_variant LIRI-JP 17 33338407 33338407 single base substitution A T upstream_gene_variant LIRI-JP 17 33339041 33339041 single base substitution T G downstream_gene_variant LIRI-JP 17 33339041 33339041 single base substitution T G missense_variant E134D 402A>C LIRI-JP 17 33339041 33339041 single base substitution T G missense_variant E310D 930A>C LIRI-JP 17 33339041 33339041 single base substitution T G missense_variant E338D 1014A>C LIRI-JP 17 33339041 33339041 single base substitution T G missense_variant E346D 1038A>C LIRI-JP 17 33339041 33339041 single base substitution T G upstream_gene_variant LIRI-JP 17 33340362 33340362 single base substitution C T downstream_gene_variant LIRI-JP 17 33340362 33340362 single base substitution C T intron_variant LIRI-JP 17 33340902 33340902 single base substitution T C downstream_gene_variant LIRI-JP 17 33340902 33340902 single base substitution T C intron_variant LIRI-JP 17 33342403 33342403 single base substitution T G downstream_gene_variant LIRI-JP 17 33342403 33342403 single base substitution T G intron_variant LIRI-JP 17 33342479 33342479 single base substitution G T downstream_gene_variant LIRI-JP 17 33342479 33342479 single base substitution G T intron_variant LIRI-JP 17 33344160 33344160 single base substitution C G downstream_gene_variant LIRI-JP 17 33344160 33344160 single base substitution C G intron_variant LIRI-JP 17 33347062 33347062 single base substitution A G downstream_gene_variant LIRI-JP 17 33347062 33347062 single base substitution A G intron_variant LIRI-JP 17 33347065 33347065 single base substitution T C downstream_gene_variant LIRI-JP 17 33347065 33347065 single base substitution T C intron_variant LIRI-JP 17 33347252 33347252 single base substitution T C downstream_gene_variant LIRI-JP 17 33347252 33347252 single base substitution T C intron_variant LIRI-JP 17 33347881 33347881 single base substitution A G downstream_gene_variant LIRI-JP 17 33347881 33347881 single base substitution A G intron_variant LIRI-JP 17 33348299 33348299 single base substitution T C downstream_gene_variant LIRI-JP 17 33348299 33348299 single base substitution T C intron_variant LIRI-JP 17 33349100 33349100 single base substitution A G intron_variant LIRI-JP 17 33349100 33349100 single base substitution A G upstream_gene_variant LIRI-JP 17 33351283 33351283 single base substitution T C intron_variant LIRI-JP 17 33351283 33351283 single base substitution T C upstream_gene_variant LIRI-JP 17 33351419 33351419 single base substitution C T intron_variant LIRI-JP 17 33351419 33351419 single base substitution C T upstream_gene_variant LIRI-JP 17 33355544 33355544 single base substitution T G intron_variant LIRI-JP 17 33355544 33355544 single base substitution T G upstream_gene_variant LIRI-JP 17 33355989 33355989 single base substitution T C intron_variant LIRI-JP 17 33355989 33355989 single base substitution T C upstream_gene_variant LIRI-JP 17 33356807 33356807 single base substitution C A intron_variant LIRI-JP 17 33356807 33356807 single base substitution C A upstream_gene_variant LIRI-JP 17 33359108 33359108 single base substitution C T intron_variant LIRI-JP 17 33359609 33359609 single base substitution G A intron_variant LIRI-JP 17 33359633 33359635 deletion of <=200bp TGC - intron_variant LIRI-JP 17 33359861 33359861 single base substitution T C intron_variant LIRI-JP 17 33360732 33360732 insertion of <=200bp - A intron_variant LIRI-JP 17 33364774 33364774 single base substitution T C intron_variant LIRI-JP 17 33365190 33365190 single base substitution C T intron_variant LIRI-JP 17 33366800 33366800 single base substitution A G intron_variant LIRI-JP 17 33367595 33367595 single base substitution C T intron_variant LIRI-JP 17 33368304 33368304 single base substitution C G intron_variant LIRI-JP 17 33370594 33370594 single base substitution T C intron_variant LIRI-JP 17 33370594 33370594 single base substitution T C upstream_gene_variant LIRI-JP 17 33370696 33370696 single base substitution T C intron_variant LIRI-JP 17 33370696 33370696 single base substitution T C upstream_gene_variant LIRI-JP 17 33370762 33370762 single base substitution T C intron_variant LIRI-JP 17 33370762 33370762 single base substitution T C upstream_gene_variant LIRI-JP 17 33370886 33370941 deletion of <=200bp TACATAGAAAAACCATTCCTGGGACTACAGAACTTTAATTTATACATCCCATAAGT - intron_variant LIRI-JP 17 33370886 33370941 deletion of <=200bp TACATAGAAAAACCATTCCTGGGACTACAGAACTTTAATTTATACATCCCATAAGT - upstream_gene_variant LIRI-JP 17 33371262 33371262 single base substitution T G intron_variant LIRI-JP 17 33371262 33371262 single base substitution T G upstream_gene_variant LIRI-JP 17 33372246 33372257 deletion of <=200bp TAATTCTTTTTT - intron_variant LIRI-JP 17 33372246 33372257 deletion of <=200bp TAATTCTTTTTT - upstream_gene_variant LIRI-JP 17 33373812 33373812 single base substitution A C intron_variant LIRI-JP 17 33373812 33373812 single base substitution A C upstream_gene_variant LIRI-JP 17 33373815 33373815 single base substitution T C intron_variant LIRI-JP 17 33373815 33373815 single base substitution T C upstream_gene_variant LIRI-JP 17 33375765 33375765 single base substitution A C intron_variant LIRI-JP 17 33377622 33377622 single base substitution C G intron_variant LIRI-JP 17 33377822 33377822 single base substitution T C intron_variant LIRI-JP 17 33378150 33378150 single base substitution T A intron_variant LIRI-JP 17 33380329 33380329 single base substitution T C intron_variant LIRI-JP 17 33380534 33380534 single base substitution A G intron_variant LIRI-JP 17 33380629 33380629 single base substitution A G intron_variant LIRI-JP 17 33380648 33380648 single base substitution T C intron_variant LIRI-JP 17 33383778 33383778 single base substitution T G intron_variant LIRI-JP 17 33384288 33384288 single base substitution C T intron_variant LIRI-JP 17 33385489 33385489 single base substitution T C intron_variant LIRI-JP 17 33385525 33385525 single base substitution C T intron_variant LIRI-JP 17 33385651 33385651 single base substitution G C intron_variant LIRI-JP 17 33386964 33386964 single base substitution T C intron_variant LIRI-JP 17 33387233 33387233 single base substitution C T intron_variant LIRI-JP 17 33387353 33387353 single base substitution A G intron_variant LIRI-JP 17 33387517 33387517 single base substitution G C intron_variant LIRI-JP 17 33387919 33387919 single base substitution A G intron_variant LIRI-JP 17 33389633 33389633 single base substitution A C intron_variant LIRI-JP 17 33389871 33389871 single base substitution G C intron_variant LIRI-JP 17 33391672 33391672 single base substitution T A intron_variant LIRI-JP 17 33391672 33391672 single base substitution T A upstream_gene_variant LIRI-JP 17 33392074 33392074 single base substitution T C intron_variant LIRI-JP 17 33392074 33392074 single base substitution T C upstream_gene_variant LIRI-JP 17 33395037 33395037 single base substitution G A intron_variant LIRI-JP 17 33395037 33395037 single base substitution G A upstream_gene_variant LIRI-JP 17 33396268 33396268 single base substitution A G intron_variant LIRI-JP 17 33396719 33396719 single base substitution T C intron_variant LIRI-JP 17 33397438 33397438 single base substitution C G intron_variant LIRI-JP 17 33398091 33398091 single base substitution C T intron_variant LIRI-JP 17 33398415 33398415 single base substitution T C intron_variant LIRI-JP 17 33399417 33399417 single base substitution T C intron_variant LIRI-JP 17 33403205 33403205 single base substitution G C intron_variant LIRI-JP 17 33403497 33403497 single base substitution C G intron_variant LIRI-JP 17 33404958 33404958 single base substitution G A intron_variant LIRI-JP 17 33405027 33405027 single base substitution T C intron_variant LIRI-JP 17 33405237 33405237 single base substitution A C intron_variant LIRI-JP 17 33405439 33405439 single base substitution A T intron_variant LIRI-JP 17 33405441 33405441 single base substitution A C intron_variant LIRI-JP 17 33406654 33406654 single base substitution A G intron_variant LIRI-JP 17 33406898 33406898 single base substitution C A intron_variant LIRI-JP 17 33409040 33409040 single base substitution T C intron_variant LIRI-JP 17 33409124 33409124 single base substitution T C intron_variant LIRI-JP 17 33412774 33412774 single base substitution G T intron_variant LIRI-JP 17 33413112 33413112 single base substitution T C intron_variant LIRI-JP 17 33415988 33415988 single base substitution G A intron_variant LIRI-JP 17 33415988 33415988 single base substitution G A upstream_gene_variant LIRI-JP 17 33417157 33417157 single base substitution G A upstream_gene_variant LIRI-JP 17 33419247 33419247 single base substitution G A upstream_gene_variant LIRI-JP 17 33419680 33419680 single base substitution A G upstream_gene_variant LIRI-JP 17 33420811 33420811 single base substitution T C upstream_gene_variant LIRI-JP 17 33421016 33421016 single base substitution T A upstream_gene_variant LUSC-KR 17 33332417 33332417 single base substitution G A downstream_gene_variant LUSC-KR 17 33332455 33332455 single base substitution G A downstream_gene_variant LUSC-KR 17 33348920 33348920 single base substitution C T intron_variant LUSC-KR 17 33348920 33348920 single base substitution C T upstream_gene_variant LUSC-KR 17 33354611 33354611 single base substitution C A intron_variant LUSC-KR 17 33354611 33354611 single base substitution C A upstream_gene_variant LUSC-KR 17 33361542 33361542 single base substitution C A intron_variant LUSC-KR 17 33364999 33364999 single base substitution T A intron_variant LUSC-KR 17 33368666 33368666 single base substitution C T intron_variant LUSC-KR 17 33374918 33374918 single base substitution C A intron_variant LUSC-KR 17 33382235 33382235 single base substitution C T intron_variant LUSC-KR 17 33388570 33388570 single base substitution G A intron_variant LUSC-KR 17 33388640 33388640 single base substitution C G intron_variant LUSC-KR 17 33388679 33388679 single base substitution A C intron_variant LUSC-KR 17 33391562 33391562 single base substitution G T intron_variant LUSC-KR 17 33391562 33391562 single base substitution G T upstream_gene_variant LUSC-KR 17 33398028 33398028 single base substitution C A intron_variant LUSC-KR 17 33405801 33405801 single base substitution C G intron_variant LUSC-KR 17 33408962 33408962 single base substitution G C intron_variant LUSC-KR 17 33409430 33409430 single base substitution G C intron_variant LUSC-KR 17 33416316 33416316 single base substitution T C 5_prime_UTR_variant LUSC-KR 17 33416316 33416316 single base substitution T C upstream_gene_variant MALY-DE 17 33340156 33340156 single base substitution G A downstream_gene_variant MALY-DE 17 33340156 33340156 single base substitution G A intron_variant MALY-DE 17 33340156 33340156 single base substitution G A upstream_gene_variant MALY-DE 17 33359456 33359456 single base substitution C G intron_variant MALY-DE 17 33362378 33362378 single base substitution A T intron_variant MALY-DE 17 33369084 33369084 single base substitution T C intron_variant MALY-DE 17 33371822 33371822 single base substitution C T intron_variant MALY-DE 17 33371822 33371822 single base substitution C T upstream_gene_variant MALY-DE 17 33374216 33374216 single base substitution A T intron_variant MALY-DE 17 33374216 33374216 single base substitution A T upstream_gene_variant MALY-DE 17 33385636 33385636 single base substitution A G intron_variant MALY-DE 17 33385940 33385940 single base substitution C T intron_variant MALY-DE 17 33393349 33393349 single base substitution G C intron_variant MALY-DE 17 33393349 33393349 single base substitution G C upstream_gene_variant MALY-DE 17 33393719 33393719 single base substitution T A intron_variant MALY-DE 17 33393719 33393719 single base substitution T A upstream_gene_variant MALY-DE 17 33394280 33394280 single base substitution G A intron_variant MALY-DE 17 33394280 33394280 single base substitution G A upstream_gene_variant MALY-DE 17 33394607 33394607 single base substitution G A intron_variant MALY-DE 17 33394607 33394607 single base substitution G A upstream_gene_variant MALY-DE 17 33408066 33408066 single base substitution T C intron_variant MALY-DE 17 33409042 33409042 single base substitution T C intron_variant MALY-DE 17 33411220 33411220 insertion of <=200bp - T intron_variant MALY-DE 17 33415479 33415479 single base substitution A T intron_variant MALY-DE 17 33418717 33418717 single base substitution G A upstream_gene_variant MELA-AU 17 33328033 33328033 single base substitution C T downstream_gene_variant MELA-AU 17 33329348 33329348 single base substitution G A downstream_gene_variant MELA-AU 17 33330680 33330680 single base substitution C T downstream_gene_variant MELA-AU 17 33331993 33331993 single base substitution C T downstream_gene_variant MELA-AU 17 33332180 33332180 single base substitution G A downstream_gene_variant MELA-AU 17 33332884 33332884 single base substitution T C downstream_gene_variant MELA-AU 17 33332888 33332888 single base substitution G A downstream_gene_variant MELA-AU 17 33333036 33333036 single base substitution C T 3_prime_UTR_variant MELA-AU 17 33333036 33333036 single base substitution C T downstream_gene_variant MELA-AU 17 33333463 33333463 single base substitution C T 3_prime_UTR_variant MELA-AU 17 33333463 33333463 single base substitution C T downstream_gene_variant MELA-AU 17 33333739 33333739 single base substitution C T 3_prime_UTR_variant MELA-AU 17 33333739 33333739 single base substitution C T downstream_gene_variant MELA-AU 17 33337574 33337574 single base substitution C T 3_prime_UTR_variant MELA-AU 17 33337574 33337574 single base substitution C T downstream_gene_variant MELA-AU 17 33337574 33337574 single base substitution C T upstream_gene_variant MELA-AU 17 33338495 33338495 single base substitution G A 3_prime_UTR_variant MELA-AU 17 33338495 33338495 single base substitution G A downstream_gene_variant MELA-AU 17 33338495 33338495 single base substitution G A upstream_gene_variant MELA-AU 17 33339940 33339940 single base substitution G A downstream_gene_variant MELA-AU 17 33339940 33339940 single base substitution G A intron_variant MELA-AU 17 33339940 33339940 single base substitution G A upstream_gene_variant MELA-AU 17 33341690 33341690 single base substitution G A downstream_gene_variant MELA-AU 17 33341690 33341690 single base substitution G A intron_variant MELA-AU 17 33342474 33342474 single base substitution C T downstream_gene_variant MELA-AU 17 33342474 33342474 single base substitution C T intron_variant MELA-AU 17 33343492 33343492 single base substitution G T exon_variant MELA-AU 17 33343492 33343492 single base substitution G T synonymous_variant I124I 372C>A MELA-AU 17 33343492 33343492 single base substitution G T synonymous_variant I233I 699C>A MELA-AU 17 33343492 33343492 single base substitution G T synonymous_variant I261I 783C>A MELA-AU 17 33343492 33343492 single base substitution G T synonymous_variant I49I 147C>A MELA-AU 17 33343712 33343712 single base substitution G A downstream_gene_variant MELA-AU 17 33343712 33343712 single base substitution G A intron_variant MELA-AU 17 33345709 33345709 single base substitution G T downstream_gene_variant MELA-AU 17 33345709 33345709 single base substitution G T intron_variant MELA-AU 17 33346257 33346257 single base substitution G C downstream_gene_variant MELA-AU 17 33346257 33346257 single base substitution G C intron_variant MELA-AU 17 33346329 33346329 single base substitution G A downstream_gene_variant MELA-AU 17 33346329 33346329 single base substitution G A intron_variant MELA-AU 17 33346591 33346591 single base substitution C T downstream_gene_variant MELA-AU 17 33346591 33346591 single base substitution C T intron_variant MELA-AU 17 33347220 33347220 single base substitution G A downstream_gene_variant MELA-AU 17 33347220 33347220 single base substitution G A intron_variant MELA-AU 17 33347554 33347554 single base substitution G A downstream_gene_variant MELA-AU 17 33347554 33347554 single base substitution G A intron_variant MELA-AU 17 33347678 33347678 single base substitution C T downstream_gene_variant MELA-AU 17 33347678 33347678 single base substitution C T intron_variant MELA-AU 17 33349024 33349024 single base substitution G A intron_variant MELA-AU 17 33349024 33349024 single base substitution G A upstream_gene_variant MELA-AU 17 33349142 33349142 single base substitution C T intron_variant MELA-AU 17 33349142 33349142 single base substitution C T upstream_gene_variant MELA-AU 17 33349547 33349547 single base substitution G A intron_variant MELA-AU 17 33349547 33349547 single base substitution G A upstream_gene_variant MELA-AU 17 33349672 33349672 single base substitution C T intron_variant MELA-AU 17 33349672 33349672 single base substitution C T upstream_gene_variant MELA-AU 17 33350971 33350971 single base substitution G A intron_variant MELA-AU 17 33350971 33350971 single base substitution G A upstream_gene_variant MELA-AU 17 33350980 33350980 single base substitution G A intron_variant MELA-AU 17 33350980 33350980 single base substitution G A upstream_gene_variant MELA-AU 17 33351086 33351086 single base substitution G A intron_variant MELA-AU 17 33351086 33351086 single base substitution G A upstream_gene_variant MELA-AU 17 33351600 33351600 single base substitution G A intron_variant MELA-AU 17 33351600 33351600 single base substitution G A upstream_gene_variant MELA-AU 17 33351674 33351674 single base substitution A G intron_variant MELA-AU 17 33351674 33351674 single base substitution A G upstream_gene_variant MELA-AU 17 33351723 33351723 single base substitution T A intron_variant MELA-AU 17 33351723 33351723 single base substitution T A upstream_gene_variant MELA-AU 17 33352372 33352372 single base substitution G A intron_variant MELA-AU 17 33352372 33352372 single base substitution G A upstream_gene_variant MELA-AU 17 33352450 33352450 single base substitution A G intron_variant MELA-AU 17 33352450 33352450 single base substitution A G upstream_gene_variant MELA-AU 17 33352741 33352741 single base substitution G A intron_variant MELA-AU 17 33352741 33352741 single base substitution G A upstream_gene_variant MELA-AU 17 33352776 33352776 single base substitution G A intron_variant MELA-AU 17 33352776 33352776 single base substitution G A upstream_gene_variant MELA-AU 17 33353053 33353053 single base substitution C T intron_variant MELA-AU 17 33353053 33353053 single base substitution C T upstream_gene_variant MELA-AU 17 33353715 33353715 single base substitution C T intron_variant MELA-AU 17 33353715 33353715 single base substitution C T upstream_gene_variant MELA-AU 17 33354342 33354342 single base substitution G A intron_variant MELA-AU 17 33354342 33354342 single base substitution G A upstream_gene_variant MELA-AU 17 33354637 33354637 single base substitution G A intron_variant MELA-AU 17 33354637 33354637 single base substitution G A upstream_gene_variant MELA-AU 17 33355249 33355249 single base substitution G A intron_variant MELA-AU 17 33355249 33355249 single base substitution G A upstream_gene_variant MELA-AU 17 33356440 33356440 single base substitution G A intron_variant MELA-AU 17 33356440 33356440 single base substitution G A upstream_gene_variant MELA-AU 17 33356641 33356641 single base substitution A C intron_variant MELA-AU 17 33356641 33356641 single base substitution A C upstream_gene_variant MELA-AU 17 33356731 33356731 single base substitution T C intron_variant MELA-AU 17 33356731 33356731 single base substitution T C upstream_gene_variant MELA-AU 17 33357474 33357474 single base substitution T A intron_variant MELA-AU 17 33357474 33357474 single base substitution T A upstream_gene_variant MELA-AU 17 33357694 33357694 single base substitution T C intron_variant MELA-AU 17 33357694 33357694 single base substitution T C upstream_gene_variant MELA-AU 17 33357770 33357770 single base substitution T C intron_variant MELA-AU 17 33357770 33357770 single base substitution T C upstream_gene_variant MELA-AU 17 33358377 33358377 single base substitution C T intron_variant MELA-AU 17 33358377 33358377 single base substitution C T upstream_gene_variant MELA-AU 17 33358616 33358616 single base substitution G A intron_variant MELA-AU 17 33358775 33358775 single base substitution G A intron_variant MELA-AU 17 33359017 33359018 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 33359274 33359274 single base substitution G A intron_variant MELA-AU 17 33359445 33359445 single base substitution G A intron_variant MELA-AU 17 33359766 33359766 single base substitution G A intron_variant MELA-AU 17 33360030 33360030 single base substitution G A intron_variant MELA-AU 17 33360582 33360582 single base substitution G A intron_variant MELA-AU 17 33360871 33360871 single base substitution A T intron_variant MELA-AU 17 33361258 33361258 single base substitution G A intron_variant MELA-AU 17 33361539 33361539 single base substitution C T intron_variant MELA-AU 17 33361931 33361931 single base substitution G A intron_variant MELA-AU 17 33361997 33361997 single base substitution T C intron_variant MELA-AU 17 33362006 33362006 single base substitution G A intron_variant MELA-AU 17 33362028 33362028 single base substitution C T intron_variant MELA-AU 17 33362901 33362901 single base substitution T C intron_variant MELA-AU 17 33363545 33363545 single base substitution G A intron_variant MELA-AU 17 33363545 33363545 single base substitution G A splice_region_variant MELA-AU 17 33363848 33363848 single base substitution T A intron_variant MELA-AU 17 33364247 33364247 single base substitution G A intron_variant MELA-AU 17 33364976 33364976 single base substitution G A intron_variant MELA-AU 17 33365104 33365104 single base substitution C T intron_variant MELA-AU 17 33365769 33365769 single base substitution G A intron_variant MELA-AU 17 33367086 33367086 single base substitution G A intron_variant MELA-AU 17 33367098 33367098 single base substitution G A intron_variant MELA-AU 17 33367131 33367131 single base substitution T C intron_variant MELA-AU 17 33367151 33367151 single base substitution G T intron_variant MELA-AU 17 33367413 33367413 single base substitution G A intron_variant MELA-AU 17 33368171 33368171 single base substitution G A intron_variant MELA-AU 17 33368239 33368239 single base substitution G A intron_variant MELA-AU 17 33368397 33368397 single base substitution G A intron_variant MELA-AU 17 33368452 33368452 single base substitution A G intron_variant MELA-AU 17 33368466 33368466 single base substitution G A intron_variant MELA-AU 17 33368938 33368939 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 33369332 33369332 single base substitution G A 5_prime_UTR_variant MELA-AU 17 33369332 33369332 single base substitution G A intron_variant MELA-AU 17 33369332 33369332 single base substitution G A upstream_gene_variant MELA-AU 17 33369563 33369563 single base substitution G A intron_variant MELA-AU 17 33369563 33369563 single base substitution G A upstream_gene_variant MELA-AU 17 33369738 33369738 single base substitution G A intron_variant MELA-AU 17 33369738 33369738 single base substitution G A upstream_gene_variant MELA-AU 17 33369741 33369741 single base substitution G A intron_variant MELA-AU 17 33369741 33369741 single base substitution G A upstream_gene_variant MELA-AU 17 33370085 33370085 single base substitution G A intron_variant MELA-AU 17 33370085 33370085 single base substitution G A upstream_gene_variant MELA-AU 17 33370369 33370369 single base substitution G A intron_variant MELA-AU 17 33370369 33370369 single base substitution G A upstream_gene_variant MELA-AU 17 33371156 33371156 single base substitution G A intron_variant MELA-AU 17 33371156 33371156 single base substitution G A upstream_gene_variant MELA-AU 17 33371586 33371586 single base substitution C G intron_variant MELA-AU 17 33371586 33371586 single base substitution C G upstream_gene_variant MELA-AU 17 33372042 33372042 single base substitution C T intron_variant MELA-AU 17 33372042 33372042 single base substitution C T upstream_gene_variant MELA-AU 17 33372610 33372610 single base substitution G A intron_variant MELA-AU 17 33372610 33372610 single base substitution G A upstream_gene_variant MELA-AU 17 33372888 33372888 single base substitution A G intron_variant MELA-AU 17 33372888 33372888 single base substitution A G upstream_gene_variant MELA-AU 17 33372927 33372928 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 33372927 33372928 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 33374336 33374336 single base substitution G A intron_variant MELA-AU 17 33374336 33374336 single base substitution G A upstream_gene_variant MELA-AU 17 33374696 33374696 single base substitution T A intron_variant MELA-AU 17 33375053 33375053 single base substitution G A intron_variant MELA-AU 17 33375503 33375503 single base substitution A G intron_variant MELA-AU 17 33375600 33375600 single base substitution C T intron_variant MELA-AU 17 33376524 33376524 single base substitution G A intron_variant MELA-AU 17 33376552 33376553 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 17 33376942 33376942 single base substitution A C intron_variant MELA-AU 17 33377008 33377008 single base substitution G A intron_variant MELA-AU 17 33377269 33377269 deletion of <=200bp T - intron_variant MELA-AU 17 33378082 33378082 single base substitution G A intron_variant MELA-AU 17 33378907 33378907 single base substitution A T intron_variant MELA-AU 17 33379160 33379160 single base substitution C T intron_variant MELA-AU 17 33380896 33380896 single base substitution G A intron_variant MELA-AU 17 33380957 33380957 single base substitution G T intron_variant MELA-AU 17 33381274 33381274 single base substitution A C intron_variant MELA-AU 17 33382157 33382158 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 17 33383177 33383177 single base substitution T C intron_variant MELA-AU 17 33384564 33384564 single base substitution G A intron_variant MELA-AU 17 33385154 33385154 single base substitution G A intron_variant MELA-AU 17 33385409 33385409 single base substitution A G intron_variant MELA-AU 17 33386341 33386341 single base substitution C T intron_variant MELA-AU 17 33387542 33387542 single base substitution G A intron_variant MELA-AU 17 33387586 33387586 single base substitution G A intron_variant MELA-AU 17 33387808 33387808 single base substitution G A intron_variant MELA-AU 17 33388107 33388107 single base substitution G A intron_variant MELA-AU 17 33388834 33388834 single base substitution G A intron_variant MELA-AU 17 33388937 33388937 single base substitution G A intron_variant MELA-AU 17 33388951 33388951 single base substitution G A intron_variant MELA-AU 17 33389907 33389907 single base substitution T A intron_variant MELA-AU 17 33390090 33390090 single base substitution G A intron_variant MELA-AU 17 33392671 33392671 single base substitution G A intron_variant MELA-AU 17 33392671 33392671 single base substitution G A upstream_gene_variant MELA-AU 17 33392870 33392870 single base substitution T A intron_variant MELA-AU 17 33392870 33392870 single base substitution T A upstream_gene_variant MELA-AU 17 33393125 33393125 single base substitution G A intron_variant MELA-AU 17 33393125 33393125 single base substitution G A upstream_gene_variant MELA-AU 17 33393405 33393405 single base substitution G A intron_variant MELA-AU 17 33393405 33393405 single base substitution G A upstream_gene_variant MELA-AU 17 33393479 33393479 single base substitution G A intron_variant MELA-AU 17 33393479 33393479 single base substitution G A upstream_gene_variant MELA-AU 17 33393494 33393494 single base substitution G A intron_variant MELA-AU 17 33393494 33393494 single base substitution G A upstream_gene_variant MELA-AU 17 33393618 33393618 single base substitution A G intron_variant MELA-AU 17 33393618 33393618 single base substitution A G upstream_gene_variant MELA-AU 17 33394113 33394113 single base substitution G A intron_variant MELA-AU 17 33394113 33394113 single base substitution G A upstream_gene_variant MELA-AU 17 33394114 33394114 single base substitution G A intron_variant MELA-AU 17 33394114 33394114 single base substitution G A upstream_gene_variant MELA-AU 17 33394170 33394170 single base substitution C T intron_variant MELA-AU 17 33394170 33394170 single base substitution C T upstream_gene_variant MELA-AU 17 33394182 33394182 single base substitution G A intron_variant MELA-AU 17 33394182 33394182 single base substitution G A upstream_gene_variant MELA-AU 17 33394272 33394272 single base substitution G A intron_variant MELA-AU 17 33394272 33394272 single base substitution G A upstream_gene_variant MELA-AU 17 33394671 33394671 single base substitution G C intron_variant MELA-AU 17 33394671 33394671 single base substitution G C upstream_gene_variant MELA-AU 17 33395102 33395102 single base substitution G A intron_variant MELA-AU 17 33395102 33395102 single base substitution G A upstream_gene_variant MELA-AU 17 33395804 33395804 single base substitution C G intron_variant MELA-AU 17 33395804 33395804 single base substitution C G upstream_gene_variant MELA-AU 17 33396455 33396455 single base substitution G A 5_prime_UTR_variant MELA-AU 17 33396455 33396455 single base substitution G A intron_variant MELA-AU 17 33396502 33396502 single base substitution G A 5_prime_UTR_variant MELA-AU 17 33396502 33396502 single base substitution G A intron_variant MELA-AU 17 33396885 33396886 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 33397157 33397157 single base substitution G A intron_variant MELA-AU 17 33397327 33397327 single base substitution C T intron_variant MELA-AU 17 33397403 33397403 single base substitution G A intron_variant MELA-AU 17 33397739 33397739 single base substitution G A intron_variant MELA-AU 17 33399092 33399092 single base substitution G A intron_variant MELA-AU 17 33399179 33399179 single base substitution A G intron_variant MELA-AU 17 33399484 33399484 single base substitution G A intron_variant MELA-AU 17 33399983 33399983 single base substitution A G intron_variant MELA-AU 17 33400108 33400108 single base substitution C T intron_variant MELA-AU 17 33401327 33401327 single base substitution C T intron_variant MELA-AU 17 33402228 33402228 single base substitution G A intron_variant MELA-AU 17 33402415 33402416 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 33403531 33403531 single base substitution C T intron_variant MELA-AU 17 33403592 33403592 single base substitution G A intron_variant MELA-AU 17 33403656 33403656 single base substitution G A intron_variant MELA-AU 17 33403703 33403703 single base substitution A T intron_variant MELA-AU 17 33403797 33403797 single base substitution G A intron_variant MELA-AU 17 33404000 33404036 deletion of <=200bp GCTGCTGCAGCATCCAGTTCATCTTAAGAATTTCAAC - intron_variant MELA-AU 17 33404026 33404026 single base substitution A G intron_variant MELA-AU 17 33404075 33404075 single base substitution A G intron_variant MELA-AU 17 33404286 33404286 single base substitution G A intron_variant MELA-AU 17 33405163 33405163 single base substitution G A intron_variant MELA-AU 17 33405435 33405435 single base substitution A G intron_variant MELA-AU 17 33405504 33405504 single base substitution G T intron_variant MELA-AU 17 33405506 33405506 single base substitution A G intron_variant MELA-AU 17 33405791 33405791 single base substitution G A intron_variant MELA-AU 17 33405820 33405820 single base substitution G A intron_variant MELA-AU 17 33406226 33406227 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 17 33407034 33407034 single base substitution G C intron_variant MELA-AU 17 33407048 33407048 single base substitution C T intron_variant MELA-AU 17 33408920 33408920 single base substitution C T intron_variant MELA-AU 17 33410002 33410002 single base substitution T G intron_variant MELA-AU 17 33410039 33410039 single base substitution C T intron_variant MELA-AU 17 33410272 33410272 single base substitution G A intron_variant MELA-AU 17 33410611 33410611 single base substitution C G intron_variant MELA-AU 17 33411079 33411079 single base substitution G A intron_variant MELA-AU 17 33411730 33411730 single base substitution G A intron_variant MELA-AU 17 33411861 33411861 single base substitution A G intron_variant MELA-AU 17 33412045 33412045 single base substitution A G intron_variant MELA-AU 17 33412415 33412415 single base substitution C T intron_variant MELA-AU 17 33412439 33412439 single base substitution G A intron_variant MELA-AU 17 33413021 33413021 single base substitution G A intron_variant MELA-AU 17 33413188 33413189 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 33413299 33413299 single base substitution A C intron_variant MELA-AU 17 33415183 33415183 single base substitution G A intron_variant MELA-AU 17 33416915 33416915 single base substitution C T upstream_gene_variant MELA-AU 17 33417106 33417106 single base substitution T A upstream_gene_variant MELA-AU 17 33417206 33417208 deletion of <=200bp ATA - upstream_gene_variant MELA-AU 17 33417439 33417439 single base substitution G A upstream_gene_variant MELA-AU 17 33417611 33417611 single base substitution C G upstream_gene_variant MELA-AU 17 33417771 33417771 single base substitution G A upstream_gene_variant MELA-AU 17 33417927 33417927 single base substitution G A upstream_gene_variant MELA-AU 17 33418154 33418154 single base substitution T C upstream_gene_variant MELA-AU 17 33418222 33418222 single base substitution T A upstream_gene_variant MELA-AU 17 33418425 33418425 single base substitution C T upstream_gene_variant MELA-AU 17 33419894 33419894 single base substitution G T upstream_gene_variant MELA-AU 17 33420722 33420722 single base substitution G A upstream_gene_variant MELA-AU 17 33421106 33421106 single base substitution G A upstream_gene_variant ORCA-IN 17 33334956 33334956 single base substitution C T 3_prime_UTR_variant ORCA-IN 17 33334956 33334956 single base substitution C T downstream_gene_variant ORCA-IN 17 33334956 33334956 single base substitution C T exon_variant ORCA-IN 17 33339079 33339079 single base substitution T A downstream_gene_variant ORCA-IN 17 33339079 33339079 single base substitution T A exon_variant ORCA-IN 17 33339079 33339079 single base substitution T A missense_variant M122L 364A>T ORCA-IN 17 33339079 33339079 single base substitution T A missense_variant M298L 892A>T ORCA-IN 17 33339079 33339079 single base substitution T A missense_variant M326L 976A>T ORCA-IN 17 33339079 33339079 single base substitution T A missense_variant M334L 1000A>T ORCA-IN 17 33339079 33339079 single base substitution T A upstream_gene_variant ORCA-IN 17 33343388 33343388 single base substitution C A downstream_gene_variant ORCA-IN 17 33343388 33343388 single base substitution C A splice_donor_variant ORCA-IN 17 33365107 33365107 single base substitution G T intron_variant OV-AU 17 33349868 33349868 single base substitution C T intron_variant OV-AU 17 33349868 33349868 single base substitution C T upstream_gene_variant OV-AU 17 33363852 33363852 single base substitution C T intron_variant OV-AU 17 33365334 33365334 single base substitution G C intron_variant OV-AU 17 33370368 33370368 single base substitution G T intron_variant OV-AU 17 33370368 33370368 single base substitution G T upstream_gene_variant OV-AU 17 33389180 33389180 single base substitution T C intron_variant OV-AU 17 33402971 33402971 single base substitution T C intron_variant OV-AU 17 33405747 33405747 single base substitution C A intron_variant OV-AU 17 33410323 33410323 single base substitution G A intron_variant OV-AU 17 33420039 33420039 single base substitution G T upstream_gene_variant PACA-AU 17 33337428 33337428 single base substitution G A 3_prime_UTR_variant PACA-AU 17 33337428 33337428 single base substitution G A downstream_gene_variant PACA-AU 17 33337428 33337428 single base substitution G A upstream_gene_variant PACA-AU 17 33348064 33348064 single base substitution G A downstream_gene_variant PACA-AU 17 33348064 33348064 single base substitution G A intron_variant PACA-AU 17 33353343 33353343 single base substitution C A intron_variant PACA-AU 17 33353343 33353343 single base substitution C A upstream_gene_variant PACA-AU 17 33354071 33354071 single base substitution A C intron_variant PACA-AU 17 33354071 33354071 single base substitution A C upstream_gene_variant PACA-AU 17 33359335 33359335 single base substitution G C intron_variant PACA-AU 17 33359338 33359338 single base substitution A T intron_variant PACA-AU 17 33359339 33359339 single base substitution G T intron_variant PACA-AU 17 33361930 33361930 single base substitution G A intron_variant PACA-AU 17 33366249 33366249 single base substitution C A intron_variant PACA-AU 17 33370848 33370848 single base substitution C A intron_variant PACA-AU 17 33370848 33370848 single base substitution C A upstream_gene_variant PACA-AU 17 33372024 33372024 single base substitution G T intron_variant PACA-AU 17 33372024 33372024 single base substitution G T upstream_gene_variant PACA-AU 17 33376249 33376249 single base substitution T G intron_variant PACA-AU 17 33379957 33379957 single base substitution T C intron_variant PACA-AU 17 33380387 33380387 single base substitution G C intron_variant PACA-AU 17 33381340 33381342 deletion of <=200bp AAC - intron_variant PACA-AU 17 33382258 33382258 single base substitution G C intron_variant PACA-AU 17 33392593 33392593 single base substitution A G intron_variant PACA-AU 17 33392593 33392593 single base substitution A G upstream_gene_variant PACA-AU 17 33395326 33395326 single base substitution G T intron_variant PACA-AU 17 33395326 33395326 single base substitution G T upstream_gene_variant PACA-AU 17 33396061 33396061 single base substitution C T intron_variant PACA-AU 17 33396402 33396402 single base substitution G A 5_prime_UTR_variant PACA-AU 17 33396402 33396402 single base substitution G A intron_variant PACA-AU 17 33397990 33397990 single base substitution T G intron_variant PACA-AU 17 33400064 33400064 single base substitution A G intron_variant PACA-AU 17 33402517 33402517 single base substitution G A intron_variant PACA-AU 17 33405619 33405619 single base substitution C A intron_variant PACA-AU 17 33409747 33409747 insertion of <=200bp - A intron_variant PACA-AU 17 33411542 33411542 single base substitution G A intron_variant PACA-AU 17 33412385 33412385 insertion of <=200bp - A intron_variant PACA-AU 17 33413689 33413689 single base substitution C T intron_variant PACA-CA 17 33333940 33333940 single base substitution C A 3_prime_UTR_variant PACA-CA 17 33333940 33333940 single base substitution C A downstream_gene_variant PACA-CA 17 33334703 33334703 single base substitution G T 3_prime_UTR_variant PACA-CA 17 33334703 33334703 single base substitution G T downstream_gene_variant PACA-CA 17 33334703 33334703 single base substitution G T intron_variant PACA-CA 17 33337386 33337386 insertion of <=200bp - TT 3_prime_UTR_variant PACA-CA 17 33337386 33337386 insertion of <=200bp - TT downstream_gene_variant PACA-CA 17 33337386 33337386 insertion of <=200bp - TT upstream_gene_variant PACA-CA 17 33352543 33352543 single base substitution A T intron_variant PACA-CA 17 33352543 33352543 single base substitution A T upstream_gene_variant PACA-CA 17 33361526 33361526 single base substitution A C intron_variant PACA-CA 17 33361870 33361870 single base substitution A C intron_variant PACA-CA 17 33365534 33365534 single base substitution A G intron_variant PACA-CA 17 33367989 33367989 single base substitution C T intron_variant PACA-CA 17 33370530 33370530 single base substitution G A intron_variant PACA-CA 17 33370530 33370530 single base substitution G A upstream_gene_variant PACA-CA 17 33371138 33371138 single base substitution G C intron_variant PACA-CA 17 33371138 33371138 single base substitution G C upstream_gene_variant PACA-CA 17 33373947 33373947 single base substitution C G intron_variant PACA-CA 17 33373947 33373947 single base substitution C G upstream_gene_variant PACA-CA 17 33376921 33376921 single base substitution C T intron_variant PACA-CA 17 33379607 33379607 single base substitution G T intron_variant PACA-CA 17 33379610 33379610 single base substitution G C intron_variant PACA-CA 17 33379732 33379732 single base substitution G A intron_variant PACA-CA 17 33384369 33384369 single base substitution G A intron_variant PACA-CA 17 33401218 33401218 single base substitution G T intron_variant PACA-CA 17 33402375 33402375 single base substitution A G intron_variant PACA-CA 17 33402694 33402694 single base substitution A G intron_variant PACA-CA 17 33403308 33403308 single base substitution C A intron_variant PACA-CA 17 33403806 33403806 single base substitution G A intron_variant PACA-CA 17 33407239 33407239 single base substitution A G intron_variant PACA-CA 17 33409727 33409727 single base substitution T C intron_variant PACA-CA 17 33409940 33409940 single base substitution C A intron_variant PACA-CA 17 33410887 33410887 insertion of <=200bp - C intron_variant PACA-CA 17 33414924 33414924 single base substitution A G intron_variant PACA-CA 17 33418498 33418498 single base substitution G T upstream_gene_variant PACA-CA 17 33421131 33421131 insertion of <=200bp - T upstream_gene_variant PAEN-AU 17 33359177 33359177 single base substitution G A intron_variant PAEN-AU 17 33394528 33394528 single base substitution T C intron_variant PAEN-AU 17 33394528 33394528 single base substitution T C upstream_gene_variant PAEN-AU 17 33403859 33403859 single base substitution C T intron_variant PAEN-IT 17 33360963 33360963 single base substitution C T intron_variant PAEN-IT 17 33381991 33381991 single base substitution C T intron_variant PAEN-IT 17 33421271 33421271 single base substitution C T upstream_gene_variant PBCA-DE 17 33337781 33337781 single base substitution T A 3_prime_UTR_variant PBCA-DE 17 33337781 33337781 single base substitution T A downstream_gene_variant PBCA-DE 17 33337781 33337781 single base substitution T A upstream_gene_variant PBCA-DE 17 33348551 33348551 single base substitution C A downstream_gene_variant PBCA-DE 17 33348551 33348551 single base substitution C A intron_variant PBCA-DE 17 33348551 33348551 single base substitution C A missense_variant D144Y 430G>T PBCA-DE 17 33348551 33348551 single base substitution C A upstream_gene_variant PBCA-DE 17 33375275 33375275 single base substitution G T intron_variant PBCA-DE 17 33376324 33376325 deletion of <=200bp CA - intron_variant PBCA-DE 17 33389937 33389937 single base substitution C G intron_variant PBCA-DE 17 33390061 33390061 insertion of <=200bp - A intron_variant PBCA-DE 17 33392009 33392009 single base substitution C A intron_variant PBCA-DE 17 33392009 33392009 single base substitution C A upstream_gene_variant PBCA-DE 17 33400801 33400802 deletion of <=200bp CA - intron_variant PBCA-DE 17 33401105 33401105 single base substitution T A intron_variant PBCA-DE 17 33419372 33419372 single base substitution C T upstream_gene_variant PRAD-CA 17 33359308 33359308 single base substitution G C intron_variant PRAD-CA 17 33377711 33377711 single base substitution A C intron_variant PRAD-CA 17 33383568 33383568 single base substitution G T intron_variant PRAD-CA 17 33397777 33397777 single base substitution C T intron_variant PRAD-CA 17 33410272 33410272 single base substitution G A intron_variant PRAD-CA 17 33411774 33411774 single base substitution G A intron_variant PRAD-UK 17 33341997 33341997 insertion of <=200bp - T downstream_gene_variant PRAD-UK 17 33341997 33341997 insertion of <=200bp - T intron_variant PRAD-UK 17 33348734 33348734 single base substitution G A 3_prime_UTR_variant PRAD-UK 17 33348734 33348734 single base substitution G A intron_variant PRAD-UK 17 33348734 33348734 single base substitution G A missense_variant R83C 247C>T PRAD-UK 17 33348734 33348734 single base substitution G A upstream_gene_variant PRAD-UK 17 33354008 33354008 single base substitution T C intron_variant PRAD-UK 17 33354008 33354008 single base substitution T C upstream_gene_variant PRAD-UK 17 33357833 33357833 single base substitution G T intron_variant PRAD-UK 17 33357833 33357833 single base substitution G T upstream_gene_variant PRAD-UK 17 33359968 33359968 single base substitution G C intron_variant PRAD-UK 17 33362683 33362683 insertion of <=200bp - TA intron_variant PRAD-UK 17 33368721 33368721 single base substitution G A intron_variant PRAD-UK 17 33374264 33374264 single base substitution C T intron_variant PRAD-UK 17 33374264 33374264 single base substitution C T upstream_gene_variant PRAD-UK 17 33380405 33380405 single base substitution G C intron_variant PRAD-UK 17 33414932 33414932 single base substitution T A intron_variant PRAD-UK 17 33415751 33415751 single base substitution G T intron_variant PRAD-US 17 33341759 33341759 single base substitution C T downstream_gene_variant PRAD-US 17 33341759 33341759 single base substitution C T intron_variant PRAD-US 17 33341759 33341759 single base substitution C T missense_variant G304R 910G>A PRAD-US 17 33341759 33341759 single base substitution C T missense_variant G92R 274G>A PRAD-US 17 33341759 33341759 single base substitution C T splice_region_variant PRAD-US 17 33344575 33344575 single base substitution G A downstream_gene_variant PRAD-US 17 33344575 33344575 single base substitution G A exon_variant PRAD-US 17 33344575 33344575 single base substitution G A intron_variant PRAD-US 17 33344575 33344575 single base substitution G A synonymous_variant S214S 642C>T PRAD-US 17 33344575 33344575 single base substitution G A synonymous_variant S77S 231C>T READ-US 17 33348399 33348399 single base substitution C A downstream_gene_variant READ-US 17 33348399 33348399 single base substitution C A intron_variant READ-US 17 33348399 33348399 single base substitution C A missense_variant E10D 30G>T READ-US 17 33348399 33348399 single base substitution C A missense_variant E194D 582G>T RECA-EU 17 33334979 33334979 single base substitution C G 3_prime_UTR_variant RECA-EU 17 33334979 33334979 single base substitution C G downstream_gene_variant RECA-EU 17 33334979 33334979 single base substitution C G exon_variant RECA-EU 17 33336960 33336960 single base substitution A G 3_prime_UTR_variant RECA-EU 17 33336960 33336960 single base substitution A G downstream_gene_variant RECA-EU 17 33336960 33336960 single base substitution A G upstream_gene_variant RECA-EU 17 33339217 33339217 single base substitution A G downstream_gene_variant RECA-EU 17 33339217 33339217 single base substitution A G intron_variant RECA-EU 17 33339217 33339217 single base substitution A G upstream_gene_variant RECA-EU 17 33359704 33359704 single base substitution C T intron_variant RECA-EU 17 33375453 33375453 single base substitution A T intron_variant RECA-EU 17 33379487 33379487 single base substitution A T intron_variant RECA-EU 17 33381710 33381710 single base substitution G A intron_variant RECA-EU 17 33390343 33390343 single base substitution G A intron_variant RECA-EU 17 33402414 33402414 single base substitution T G intron_variant RECA-EU 17 33408557 33408557 single base substitution A G intron_variant RECA-EU 17 33411743 33411743 single base substitution T A intron_variant RECA-EU 17 33418716 33418716 single base substitution C G upstream_gene_variant SKCA-BR 17 33328898 33328898 single base substitution A C downstream_gene_variant SKCA-BR 17 33335082 33335082 single base substitution T C 3_prime_UTR_variant SKCA-BR 17 33335082 33335082 single base substitution T C downstream_gene_variant SKCA-BR 17 33335082 33335082 single base substitution T C exon_variant SKCA-BR 17 33344797 33344797 single base substitution G A downstream_gene_variant SKCA-BR 17 33344797 33344797 single base substitution G A intron_variant SKCA-BR 17 33348816 33348816 single base substitution G A intron_variant SKCA-BR 17 33348816 33348816 single base substitution G A upstream_gene_variant SKCA-BR 17 33356867 33356867 single base substitution A G intron_variant SKCA-BR 17 33356867 33356867 single base substitution A G upstream_gene_variant SKCA-BR 17 33359113 33359114 deletion of <=200bp CA - intron_variant SKCA-BR 17 33375581 33375581 single base substitution G A intron_variant SKCA-BR 17 33375713 33375713 single base substitution C T intron_variant SKCA-BR 17 33377457 33377457 single base substitution T C intron_variant SKCA-BR 17 33381496 33381496 single base substitution T A intron_variant SKCA-BR 17 33381939 33381940 deletion of <=200bp CT - intron_variant SKCA-BR 17 33390474 33390477 deletion of <=200bp CAAA - intron_variant SKCA-BR 17 33391308 33391308 insertion of <=200bp - AT intron_variant SKCA-BR 17 33391308 33391308 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 17 33392393 33392393 single base substitution G A intron_variant SKCA-BR 17 33392393 33392393 single base substitution G A upstream_gene_variant SKCA-BR 17 33394475 33394476 deletion of <=200bp CT - intron_variant SKCA-BR 17 33394475 33394476 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 17 33398639 33398639 insertion of <=200bp - CA intron_variant SKCA-BR 17 33402800 33402800 single base substitution A T intron_variant SKCA-BR 17 33404754 33404754 single base substitution C T intron_variant SKCA-BR 17 33405263 33405263 single base substitution A G intron_variant SKCA-BR 17 33407419 33407419 single base substitution T C intron_variant SKCA-BR 17 33412690 33412690 single base substitution A C intron_variant SKCA-BR 17 33413501 33413502 deletion of <=200bp TA - intron_variant SKCA-BR 17 33415816 33415816 single base substitution A C 5_prime_UTR_variant SKCA-BR 17 33415816 33415816 single base substitution A C intron_variant SKCA-BR 17 33418582 33418582 single base substitution G A upstream_gene_variant SKCM-US 17 33343492 33343492 single base substitution G T exon_variant SKCM-US 17 33343492 33343492 single base substitution G T synonymous_variant I124I 372C>A SKCM-US 17 33343492 33343492 single base substitution G T synonymous_variant I233I 699C>A SKCM-US 17 33343492 33343492 single base substitution G T synonymous_variant I261I 783C>A SKCM-US 17 33343492 33343492 single base substitution G T synonymous_variant I49I 147C>A SKCM-US 17 33348531 33348531 single base substitution G A downstream_gene_variant SKCM-US 17 33348531 33348531 single base substitution G A intron_variant SKCM-US 17 33348531 33348531 single base substitution G A synonymous_variant T150T 450C>T SKCM-US 17 33348531 33348531 single base substitution G A upstream_gene_variant SKCM-US 17 33348624 33348624 single base substitution A T downstream_gene_variant SKCM-US 17 33348624 33348624 single base substitution A T intron_variant SKCM-US 17 33348624 33348624 single base substitution A T synonymous_variant S119S 357T>A SKCM-US 17 33348624 33348624 single base substitution A T upstream_gene_variant SKCM-US 17 33348757 33348757 single base substitution G A 3_prime_UTR_variant SKCM-US 17 33348757 33348757 single base substitution G A intron_variant SKCM-US 17 33348757 33348757 single base substitution G A missense_variant S75L 224C>T SKCM-US 17 33348757 33348757 single base substitution G A upstream_gene_variant SKCM-US 17 33353427 33353427 single base substitution G A exon_variant SKCM-US 17 33353427 33353427 single base substitution G A intron_variant SKCM-US 17 33353427 33353427 single base substitution G A missense_variant S49F 146C>T SKCM-US 17 33353427 33353427 single base substitution G A upstream_gene_variant SKCM-US 17 33353483 33353483 single base substitution G A exon_variant SKCM-US 17 33353483 33353483 single base substitution G A intron_variant SKCM-US 17 33353483 33353483 single base substitution G A synonymous_variant S30S 90C>T SKCM-US 17 33353573 33353573 single base substitution G A 5_prime_UTR_variant SKCM-US 17 33353573 33353573 single base substitution G A intron_variant STAD-US 17 33328293 33328293 single base substitution G T downstream_gene_variant STAD-US 17 33331364 33331364 single base substitution C T downstream_gene_variant STAD-US 17 33331399 33331399 single base substitution G A downstream_gene_variant STAD-US 17 33338995 33338995 single base substitution G A downstream_gene_variant STAD-US 17 33338995 33338995 single base substitution G A missense_variant R326W 976C>T STAD-US 17 33338995 33338995 single base substitution G A missense_variant R354W 1060C>T STAD-US 17 33338995 33338995 single base substitution G A missense_variant R362W 1084C>T STAD-US 17 33338995 33338995 single base substitution G A upstream_gene_variant STAD-US 17 33348714 33348714 single base substitution T C 3_prime_UTR_variant STAD-US 17 33348714 33348714 single base substitution T C intron_variant STAD-US 17 33348714 33348714 single base substitution T C synonymous_variant Q89Q 267A>G STAD-US 17 33348714 33348714 single base substitution T C upstream_gene_variant THCA-SA 17 33338447 33338447 single base substitution C T 3_prime_UTR_variant THCA-SA 17 33338447 33338447 single base substitution C T downstream_gene_variant THCA-SA 17 33338447 33338447 single base substitution C T upstream_gene_variant UCEC-US 17 33328351 33328351 single base substitution C T downstream_gene_variant UCEC-US 17 33328409 33328409 single base substitution T C downstream_gene_variant UCEC-US 17 33328949 33328949 single base substitution G T downstream_gene_variant UCEC-US 17 33332679 33332679 single base substitution T C downstream_gene_variant UCEC-US 17 33343427 33343427 single base substitution G A downstream_gene_variant UCEC-US 17 33343427 33343427 single base substitution G A exon_variant UCEC-US 17 33343427 33343427 single base substitution G A missense_variant T255I 764C>T UCEC-US 17 33343427 33343427 single base substitution G A missense_variant T283I 848C>T UCEC-US 17 33343427 33343427 single base substitution G A missense_variant T71I 212C>T UCEC-US 17 33348660 33348660 single base substitution C T 3_prime_UTR_variant UCEC-US 17 33348660 33348660 single base substitution C T intron_variant UCEC-US 17 33348660 33348660 single base substitution C T synonymous_variant K107K 321G>A UCEC-US 17 33348660 33348660 single base substitution C T upstream_gene_variant UCEC-US 17 33348733 33348733 single base substitution C T 3_prime_UTR_variant UCEC-US 17 33348733 33348733 single base substitution C T intron_variant UCEC-US 17 33348733 33348733 single base substitution C T missense_variant R83H 248G>A UCEC-US 17 33348733 33348733 single base substitution C T upstream_gene_variant UCEC-US 17 33353415 33353415 single base substitution T C exon_variant UCEC-US 17 33353415 33353415 single base substitution T C intron_variant UCEC-US 17 33353415 33353415 single base substitution T C missense_variant H53R 158A>G UCEC-US 17 33353415 33353415 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B4-5377-01 COSM472578 c.385C>T p.L129L Substitution - coding silent 17:35021577-35021577 - HCC13T COSM1610081 c.952A>T p.I318F Substitution - Missense 17:35012108-35012108 - 0120_CRUK_PC_0120_T1_DNA COSM5422761 c.247C>T p.R83C Substitution - Missense 17:35021715-35021715 - STC273 COSM5055380 c.439C>T p.R147C Substitution - Missense 17:35021523-35021523 - HCT15 COSM1679718 c.255C>A p.C85* Substitution - Nonsense 17:35021707-35021707 - TCGA-FS-A1ZK-06 COSM3516157 c.450C>T p.T150T Substitution - coding silent 17:35021512-35021512 - 61 COSM5740946 c.434G>A p.R145K Substitution - Missense 17:35021528-35021528 - TCGA-D3-A51T-06 COSM3516159 c.146C>T p.S49F Substitution - Missense 17:35026408-35026408 - 5_PRE-TREATMENT COSM1724826 c.206_207insA p.N69fs*49 Insertion - Frameshift 17:35021755-35021756 - RK187_C01 COSM3742181 c.1038A>C p.E346D Substitution - Missense 17:35012022-35012022 - 61 COSM5740945 c.886G>T p.V296F Substitution - Missense 17:35016370-35016370 - B98-Tumor COSM1749962 c.725C>G p.S242C Substitution - Missense 17:35016531-35016531 - HCC78T COSM1610080 c.979_980delGT p.V327fs*19 Deletion - Frameshift 17:35012080-35012081 - B98 COSM1749962 c.725C>G p.S242C Substitution - Missense 17:35016531-35016531 - CSCC-27-T COSM3516160 c.90C>T p.S30S Substitution - coding silent 17:35026464-35026464 - T3225 COSM4721150 c.766C>T p.R256W Substitution - Missense 17:35016490-35016490 - TCGA-EI-6917-01 COSM3421427 c.582G>T p.E194D Substitution - Missense 17:35021380-35021380 - HCC87T COSM1610082 c.260T>G p.L87R Substitution - Missense 17:35021702-35021702 - TCGA-G4-6320-01 COSM3691487 c.828G>A p.W276* Substitution - Nonsense 17:35016428-35016428 - TCGA-EE-A2GI-06 COSM3516160 c.90C>T p.S30S Substitution - coding silent 17:35026464-35026464 - 5_RESISTANT COSM1724826 c.206_207insA p.N69fs*49 Insertion - Frameshift 17:35021755-35021756 - HCT-15 COSM1679718 c.255C>A p.C85* Substitution - Nonsense 17:35021707-35021707 - TCGA-RP-A693-06 COSM4895137 c.224C>T p.S75L Substitution - Missense 17:35021738-35021738 - ICGC_MB94 COSM3764589 c.430G>T p.D144Y Substitution - Missense 17:35021532-35021532 - TCGA-EE-A185-06 COSM3516156 c.783C>A p.I261I Substitution - coding silent 17:35016473-35016473 - TCGA-HC-A631-01 COSM4392249 c.910G>A p.G304R Substitution - Missense 17:35014740-35014740 - HCC87 COSM1610082 c.260T>G p.L87R Substitution - Missense 17:35021702-35021702 - TCGA-B5-A11E-01 COSM977799 c.248G>A p.R83H Substitution - Missense 17:35021714-35021714 - TCGA-AC-A2B8-01 COSM3819311 c.107C>T p.S36F Substitution - Missense 17:35026447-35026447 - ATL024 COSM5706348 c.320A>G p.K107R Substitution - Missense 17:35021642-35021642 - TCGA-D8-A1JL-01 COSM3819310 c.371G>C p.R124P Substitution - Missense 17:35021591-35021591 - PA122 COSM1162484 c.332A>G p.D111G Substitution - Missense 17:35021630-35021630 - TCGA-C5-A1BQ-01 COSM4842259 c.458C>G p.P153R Substitution - Missense 17:35021504-35021504 - XHDG40 COSM977799 c.248G>A p.R83H Substitution - Missense 17:35021714-35021714 - SJRHB059R COSM3737762 c.434G>T p.R145M Substitution - Missense 17:35021528-35021528 - OSCC-GB_00600111 COSM4890288 c.1000A>T p.M334L Substitution - Missense 17:35012060-35012060 - TCGA-EJ-7782-01 COSM3783045 c.642C>T p.S214S Substitution - coding silent 17:35017556-35017556 - 2334193 COSM323039 c.982C>T p.L328F Substitution - Missense 17:35012078-35012078 - BD72T COSM5513293 c.709C>T p.R237* Substitution - Nonsense 17:35016547-35016547 - TCGA-BR-8059-01 COSM4065522 c.1084C>T p.R362W Substitution - Missense 17:35011976-35011976 - CSCC-20-T COSM3516157 c.450C>T p.T150T Substitution - coding silent 17:35021512-35021512 - TCGA-A2-A0EY-01 COSM436383 c.667G>A p.E223K Substitution - Missense 17:35017531-35017531 - TCGA-20-1687-01 COSM1324039 c.94C>A p.P32T Substitution - Missense 17:35026460-35026460 - LC_S11 COSM1189442 c.77T>A p.M26K Substitution - Missense 17:35026477-35026477 - TCGA-EK-A3GJ-01 COSM4852560 c.42G>C p.Q14H Substitution - Missense 17:35026512-35026512 - T2269 COSM277049 c.948T>C p.C316C Substitution - coding silent 17:35012112-35012112 - LUAD_E00565 COSM389206 c.252C>T p.L84L Substitution - coding silent 17:35021710-35021710 - TCGA-D3-A5GU-06 COSM3516158 c.357T>A p.S119S Substitution - coding silent 17:35021605-35021605 - OSCC-GB_00690111 COSM4887030 c.886+1G>T p.? Unknown 17:35016369-35016369 - PT55 COSM5942741 c.719C>T p.S240F Substitution - Missense 17:35016537-35016537 - Pat_06_A COSM5852230 c.487A>G p.T163A Substitution - Missense 17:35021475-35021475 - HCC13 COSM1610081 c.952A>T p.I318F Substitution - Missense 17:35012108-35012108 - 2292386 COSM4610636 c.269G>A p.R90Q Substitution - Missense 17:35021693-35021693 - TCGA-D5-6538-01 COSM1382393 c.827G>A p.W276* Substitution - Nonsense 17:35016429-35016429 - TCGA-D1-A103-01 COSM977798 c.321G>A p.K107K Substitution - coding silent 17:35021641-35021641 - pfg008T COSM1640648 c.370C>T p.R124W Substitution - Missense 17:35021592-35021592 - pfg008T COSM1640648 c.370C>T p.R124W Substitution - Missense 17:35021592-35021592 - TCGA-D1-A15X-01 COSM977800 c.158A>G p.H53R Substitution - Missense 17:35026396-35026396 - PD22366a COSM5784330 c.875T>G p.L292R Substitution - Missense 17:35016381-35016381 - HCT8 COSM1679718 c.255C>A p.C85* Substitution - Nonsense 17:35021707-35021707 - TCGA-CG-4437-01 COSM4065523 c.267A>G p.Q89Q Substitution - coding silent 17:35021695-35021695 - DLD1 COSM1679718 c.255C>A p.C85* Substitution - Nonsense 17:35021707-35021707 - TCGA-C5-A1BF-01 COSM4836686 c.503G>T p.S168I Substitution - Missense 17:35021459-35021459 - TCGA-AP-A059-01 COSM977797 c.848C>T p.T283I Substitution - Missense 17:35016408-35016408 - TCGA-AA-A00N-01 COSM277049 c.948T>C p.C316C Substitution - coding silent 17:35012112-35012112 - PT08_1 COSM5893944 c.591G>A p.Q197Q Substitution - coding silent 17:35021371-35021371 - 386 COSM4427122 c.440G>A p.R147H Substitution - Missense 17:35021522-35021522 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.13680 17q12 609735

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1089+2374T>C 17 33336616 CLL A G 3-UTRSNV . c.1089+3774T>C 17 33335216 HC A T Missense p.I318N c.953T>A 17 33339126 CM C A Missense p.D144Y c.430G>T 17 33348551 MB C T Missense p.E223K c.667G>A 17 33344550 BRCA C T Missense p.G304R c.910G>A 17 33341759 PRAD C T Missense p.R256Q c.767G>A 17 33343508 HNSC C T Missense p.R362Q c.1085G>A 17 33338994 HNSC G A Missense p.L328F c.982C>T 17 33339097 SCLC G A Missense p.R124W c.370C>T 17 33348611 STAD G A Nonsense p.Q97* c.289C>T 17 33348692 HNSC G C Missense p.H53D c.157C>G 17 33353416 HNSC G C Missense p.S240C c.719C>G 17 33343556 LUAD G T Missense p.P171T c.511C>A 17 33348470 HNSC T A 3-UTRSNV . c.1089+3555A>T 17 33335435 HC T G 3-UTRSNV . c.1089+5144A>C 17 33333846 HC