Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 12 109889599 109889599 + Missense_Mutation SNP C C A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr12:109889599C>A c.743G>T c.(742-744)cGg>cTg p.R248L BLCA 12 109895442 109895442 + Missense_Mutation SNP A A T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr12:109895442A>T c.520T>A c.(520-522)Tat>Aat p.Y174N BLCA 12 109895444 109895444 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr12:109895444G>A c.518C>T c.(517-519)tCa>tTa p.S173L BLCA 12 109898553 109898553 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:109898553C>T c.275G>A c.(274-276)cGa>cAa p.R92Q BLCA 12 109898575 109898575 + Missense_Mutation SNP C C A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr12:109898575C>A c.253G>T c.(253-255)Ggt>Tgt p.G85C BLCA 12 109907509 109907509 + Missense_Mutation SNP C C A TCGA-XF-AAN7-01A-11D-A42E-08 TCGA-XF-AAN7-10A-01D-A42H-08 g.chr12:109907509C>A c.28G>T c.(28-30)Gtg>Ttg p.V10L BRCA 12 109889591 109889591 + Missense_Mutation SNP C C T TCGA-AC-A3W6-01A-12D-A228-09 TCGA-AC-A3W6-10A-01D-A22A-09 g.chr12:109889591C>T c.751G>A c.(751-753)Gag>Aag p.E251K BRCA 12 109889615 109889615 + Missense_Mutation SNP C C T TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr12:109889615C>T c.727G>A c.(727-729)Gag>Aag p.E243K BRCA 12 109895450 109895450 + Missense_Mutation SNP T T G TCGA-B6-A0WS-01A-11D-A10Y-09 TCGA-B6-A0WS-10A-01D-A110-09 g.chr12:109895450T>G c.512A>C c.(511-513)aAa>aCa p.K171T BRCA 12 109898454 109898454 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr12:109898454T>C c.374A>G c.(373-375)cAg>cGg p.Q125R CESC 12 109893940 109893940 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:109893940C>T c.706G>A c.(706-708)Gag>Aag p.E236K CESC 12 109898564 109898564 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr12:109898564G>A c.264C>T c.(262-264)ctC>ctT p.L88L COAD 12 109895804 109895804 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:109895804G>T c.467C>A c.(466-468)tCa>tAa p.S156* COAD 12 109895809 109895809 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:109895809C>T c.462G>A c.(460-462)gcG>gcA p.A154A COAD 12 109898513 109898513 + Silent SNP G G A TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr12:109898513G>A c.315C>T c.(313-315)atC>atT p.I105I COAD 12 109898554 109898554 + Nonsense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:109898554G>A c.274C>T c.(274-276)Cga>Tga p.R92* COADREAD 12 109895804 109895804 + Nonsense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:109895804G>T c.467C>A c.(466-468)tCa>tAa p.S156* COADREAD 12 109895809 109895809 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:109895809C>T c.462G>A c.(460-462)gcG>gcA p.A154A COADREAD 12 109898513 109898513 + Silent SNP G G A TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr12:109898513G>A c.315C>T c.(313-315)atC>atT p.I105I COADREAD 12 109898554 109898554 + Nonsense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:109898554G>A c.274C>T c.(274-276)Cga>Tga p.R92* DLBC 12 109889615 109889615 + Missense_Mutation SNP C C G TCGA-GR-A4D9-01B-11D-A31X-10 TCGA-GR-A4D9-10A-01D-A31X-10 g.chr12:109889615C>G c.727G>C c.(727-729)Gag>Cag p.E243Q GBM 12 109889455 109889455 + Missense_Mutation SNP C C T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 g.chr12:109889455C>T c.887G>A c.(886-888)cGc>cAc p.R296H GBMLGG 12 109889431 109889431 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:109889431C>T c.911G>A c.(910-912)cGc>cAc p.R304H GBMLGG 12 109889453 109889453 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:109889453C>T c.889G>A c.(889-891)Gtg>Atg p.V297M GBMLGG 12 109889455 109889455 + Missense_Mutation SNP C C T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 g.chr12:109889455C>T c.887G>A c.(886-888)cGc>cAc p.R296H HNSC 12 109893929 109893929 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr12:109893929C>A c.717G>T c.(715-717)caG>caT p.Q239H KIPAN 12 109889450 109889450 + Silent SNP G G T TCGA-G7-A4TM-01A-11D-A31X-10 TCGA-G7-A4TM-10B-01D-A31X-10 g.chr12:109889450G>T c.892C>A c.(892-894)Cgg>Agg p.R298R KIPAN 12 109907503 109907503 + Missense_Mutation SNP A A T TCGA-B0-4817-01A-01D-1361-10 TCGA-B0-4817-11A-01D-1361-10 g.chr12:109907503A>T c.34T>A c.(34-36)Tca>Aca p.S12T KIRC 12 109907503 109907503 + Missense_Mutation SNP A A T TCGA-B0-4817-01A-01D-1361-10 TCGA-B0-4817-11A-01D-1361-10 g.chr12:109907503A>T c.34T>A c.(34-36)Tca>Aca p.S12T KIRP 12 109889450 109889450 + Silent SNP G G T TCGA-G7-A4TM-01A-11D-A31X-10 TCGA-G7-A4TM-10B-01D-A31X-10 g.chr12:109889450G>T c.892C>A c.(892-894)Cgg>Agg p.R298R LGG 12 109889431 109889431 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:109889431C>T c.911G>A c.(910-912)cGc>cAc p.R304H LGG 12 109889453 109889453 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:109889453C>T c.889G>A c.(889-891)Gtg>Atg p.V297M LUAD 12 109889506 109889506 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr12:109889506G>T c.836C>A c.(835-837)gCg>gAg p.A279E LUAD 12 109893952 109893952 + Missense_Mutation SNP C C T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr12:109893952C>T c.694G>A c.(694-696)Gtc>Atc p.V232I LUAD 12 109893983 109893983 + Silent SNP C C G TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr12:109893983C>G c.663G>C c.(661-663)cgG>cgC p.R221R LUAD 12 109898546 109898546 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 g.chr12:109898546C>A c.282G>T c.(280-282)ggG>ggT p.G94G LUSC 12 109894110 109894110 + Missense_Mutation SNP T T C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr12:109894110T>C c.536A>G c.(535-537)gAc>gGc p.D179G LUSC 12 109895804 109895804 + Nonsense_Mutation SNP G G T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 g.chr12:109895804G>T c.467C>A c.(466-468)tCa>tAa p.S156* PAAD 12 109893952 109893952 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr12:109893952C>T c.694G>A c.(694-696)Gtc>Atc p.V232I PRAD 12 109894046 109894046 + Silent SNP G G C TCGA-EJ-A65G-01A-21D-A29Q-08 TCGA-EJ-A65G-10A-01D-A29Q-08 g.chr12:109894046G>C c.600C>G c.(598-600)gtC>gtG p.V200V PRAD 12 109898479 109898479 + Missense_Mutation SNP C C G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr12:109898479C>G c.349G>C c.(349-351)Gtc>Ctc p.V117L SARC 12 109894018 109894018 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:109894018C>T c.628G>A c.(628-630)Gaa>Aaa p.E210K SARC 12 109895815 109895816 + Frame_Shift_Del DEL AA AA - TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 g.chr12:109895815_109895816delAA c.455_456delTT c.(454-456)cttfs p.L152fs SKCM 12 109895484 109895484 + Missense_Mutation SNP C C T TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr12:109895484C>T c.478G>A c.(478-480)Gcc>Acc p.A160T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 12 109886827 109886827 single base substitution C A 3_prime_UTR_variant BOCA-FR 12 109886827 109886827 single base substitution C A downstream_gene_variant BRCA-EU 12 109881475 109881475 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 109882246 109882246 single base substitution G C downstream_gene_variant BRCA-EU 12 109883420 109883420 single base substitution G A downstream_gene_variant BRCA-EU 12 109883428 109883428 single base substitution G A downstream_gene_variant BRCA-EU 12 109883926 109883926 single base substitution C T downstream_gene_variant BRCA-EU 12 109884221 109884221 single base substitution C A downstream_gene_variant BRCA-EU 12 109884756 109884756 single base substitution C G downstream_gene_variant BRCA-EU 12 109886260 109886260 single base substitution G A downstream_gene_variant BRCA-EU 12 109886276 109886276 single base substitution G A downstream_gene_variant BRCA-EU 12 109886819 109886819 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 12 109886819 109886819 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 109888766 109888766 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 109888766 109888766 single base substitution C G downstream_gene_variant BRCA-EU 12 109888766 109888766 single base substitution C G exon_variant BRCA-EU 12 109888989 109888989 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 109888989 109888989 single base substitution C A downstream_gene_variant BRCA-EU 12 109888989 109888989 single base substitution C A exon_variant BRCA-EU 12 109890580 109890580 single base substitution C T downstream_gene_variant BRCA-EU 12 109890580 109890580 single base substitution C T intron_variant BRCA-EU 12 109891612 109891612 single base substitution G C downstream_gene_variant BRCA-EU 12 109891612 109891612 single base substitution G C intron_variant BRCA-EU 12 109892927 109892927 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 109892927 109892927 deletion of <=200bp C - intron_variant BRCA-EU 12 109893626 109893626 single base substitution C T downstream_gene_variant BRCA-EU 12 109893626 109893626 single base substitution C T intron_variant BRCA-EU 12 109893767 109893767 single base substitution C T downstream_gene_variant BRCA-EU 12 109893767 109893767 single base substitution C T intron_variant BRCA-EU 12 109893984 109893984 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 109893984 109893984 single base substitution C T downstream_gene_variant BRCA-EU 12 109893984 109893984 single base substitution C T exon_variant BRCA-EU 12 109893984 109893984 single base substitution C T missense_variant R195Q 584G>A BRCA-EU 12 109893984 109893984 single base substitution C T missense_variant R221Q 662G>A BRCA-EU 12 109893984 109893984 single base substitution C T missense_variant R40Q 119G>A BRCA-EU 12 109894387 109894387 single base substitution C T downstream_gene_variant BRCA-EU 12 109894387 109894387 single base substitution C T exon_variant BRCA-EU 12 109894387 109894387 single base substitution C T intron_variant BRCA-EU 12 109894730 109894730 single base substitution G A downstream_gene_variant BRCA-EU 12 109894730 109894730 single base substitution G A exon_variant BRCA-EU 12 109894730 109894730 single base substitution G A intron_variant BRCA-EU 12 109895585 109895585 single base substitution G C downstream_gene_variant BRCA-EU 12 109895585 109895585 single base substitution G C exon_variant BRCA-EU 12 109895585 109895585 single base substitution G C intron_variant BRCA-EU 12 109896461 109896461 single base substitution G T 5_prime_UTR_variant BRCA-EU 12 109896461 109896461 single base substitution G T downstream_gene_variant BRCA-EU 12 109896461 109896461 single base substitution G T exon_variant BRCA-EU 12 109896461 109896461 single base substitution G T intron_variant BRCA-EU 12 109896461 109896461 single base substitution G T upstream_gene_variant BRCA-EU 12 109897577 109897577 single base substitution G A downstream_gene_variant BRCA-EU 12 109897577 109897577 single base substitution G A intron_variant BRCA-EU 12 109897577 109897577 single base substitution G A upstream_gene_variant BRCA-EU 12 109898207 109898207 single base substitution G T exon_variant BRCA-EU 12 109898207 109898207 single base substitution G T intron_variant BRCA-EU 12 109898207 109898207 single base substitution G T upstream_gene_variant BRCA-EU 12 109898223 109898223 single base substitution G A exon_variant BRCA-EU 12 109898223 109898223 single base substitution G A intron_variant BRCA-EU 12 109898223 109898223 single base substitution G A upstream_gene_variant BRCA-EU 12 109899190 109899190 single base substitution G C intron_variant BRCA-EU 12 109899190 109899190 single base substitution G C upstream_gene_variant BRCA-EU 12 109899316 109899316 single base substitution C G intron_variant BRCA-EU 12 109899316 109899316 single base substitution C G upstream_gene_variant BRCA-EU 12 109899362 109899362 single base substitution C A intron_variant BRCA-EU 12 109899362 109899362 single base substitution C A upstream_gene_variant BRCA-EU 12 109899929 109899929 single base substitution C A intron_variant BRCA-EU 12 109899929 109899929 single base substitution C A upstream_gene_variant BRCA-EU 12 109900455 109900455 single base substitution C G intron_variant BRCA-EU 12 109900455 109900455 single base substitution C G upstream_gene_variant BRCA-EU 12 109901241 109901241 single base substitution A T intron_variant BRCA-EU 12 109901241 109901241 single base substitution A T upstream_gene_variant BRCA-EU 12 109901242 109901242 single base substitution G T intron_variant BRCA-EU 12 109901242 109901242 single base substitution G T upstream_gene_variant BRCA-EU 12 109904603 109904603 single base substitution C G downstream_gene_variant BRCA-EU 12 109904603 109904603 single base substitution C G intron_variant BRCA-EU 12 109904603 109904603 single base substitution C G upstream_gene_variant BRCA-EU 12 109905346 109905346 single base substitution G T downstream_gene_variant BRCA-EU 12 109905346 109905346 single base substitution G T intron_variant BRCA-EU 12 109905346 109905346 single base substitution G T upstream_gene_variant BRCA-EU 12 109905920 109905920 single base substitution G C downstream_gene_variant BRCA-EU 12 109905920 109905920 single base substitution G C intron_variant BRCA-EU 12 109905920 109905920 single base substitution G C upstream_gene_variant BRCA-EU 12 109906643 109906643 single base substitution G C downstream_gene_variant BRCA-EU 12 109906643 109906643 single base substitution G C intron_variant BRCA-EU 12 109906643 109906643 single base substitution G C upstream_gene_variant BRCA-EU 12 109906687 109906687 single base substitution G C downstream_gene_variant BRCA-EU 12 109906687 109906687 single base substitution G C intron_variant BRCA-EU 12 109906687 109906687 single base substitution G C upstream_gene_variant BRCA-EU 12 109907409 109907409 single base substitution T A 3_prime_UTR_variant BRCA-EU 12 109907409 109907409 single base substitution T A 5_prime_UTR_variant BRCA-EU 12 109907409 109907409 single base substitution T A exon_variant BRCA-EU 12 109907409 109907409 single base substitution T A intron_variant BRCA-EU 12 109907409 109907409 single base substitution T A missense_variant Y40F 119A>T BRCA-EU 12 109907409 109907409 single base substitution T A missense_variant Y43F 128A>T BRCA-EU 12 109907409 109907409 single base substitution T A upstream_gene_variant BRCA-EU 12 109911548 109911548 single base substitution C G intron_variant BRCA-EU 12 109911548 109911548 single base substitution C G upstream_gene_variant BRCA-EU 12 109913122 109913122 single base substitution A T intron_variant BRCA-EU 12 109913477 109913477 single base substitution T G intron_variant BRCA-EU 12 109914227 109914227 single base substitution T C intron_variant BRCA-EU 12 109916276 109916276 single base substitution A G upstream_gene_variant BRCA-EU 12 109916309 109916309 single base substitution G A upstream_gene_variant BRCA-EU 12 109917176 109917176 single base substitution G A upstream_gene_variant BRCA-EU 12 109919080 109919080 single base substitution C T upstream_gene_variant BRCA-FR 12 109883420 109883420 single base substitution G A downstream_gene_variant BRCA-FR 12 109895585 109895585 single base substitution G C downstream_gene_variant BRCA-FR 12 109895585 109895585 single base substitution G C exon_variant BRCA-FR 12 109895585 109895585 single base substitution G C intron_variant BRCA-FR 12 109898028 109898028 single base substitution G C downstream_gene_variant BRCA-FR 12 109898028 109898028 single base substitution G C intron_variant BRCA-FR 12 109898028 109898028 single base substitution G C upstream_gene_variant BRCA-FR 12 109901241 109901241 single base substitution A T intron_variant BRCA-FR 12 109901241 109901241 single base substitution A T upstream_gene_variant BRCA-FR 12 109901242 109901242 single base substitution G T intron_variant BRCA-FR 12 109901242 109901242 single base substitution G T upstream_gene_variant BRCA-FR 12 109918905 109918905 single base substitution G A upstream_gene_variant BRCA-UK 12 109883926 109883926 single base substitution C T downstream_gene_variant BRCA-UK 12 109884221 109884221 single base substitution C A downstream_gene_variant BRCA-UK 12 109884756 109884756 single base substitution C G downstream_gene_variant BRCA-UK 12 109887802 109887802 single base substitution G C 3_prime_UTR_variant BRCA-UK 12 109887802 109887802 single base substitution G C downstream_gene_variant BRCA-UK 12 109887802 109887802 single base substitution G C exon_variant BRCA-UK 12 109893626 109893626 single base substitution C T downstream_gene_variant BRCA-UK 12 109893626 109893626 single base substitution C T intron_variant BRCA-UK 12 109899621 109899621 single base substitution C A intron_variant BRCA-UK 12 109899621 109899621 single base substitution C A upstream_gene_variant BRCA-UK 12 109904603 109904603 single base substitution C G downstream_gene_variant BRCA-UK 12 109904603 109904603 single base substitution C G intron_variant BRCA-UK 12 109904603 109904603 single base substitution C G upstream_gene_variant BRCA-UK 12 109905738 109905738 single base substitution G A downstream_gene_variant BRCA-UK 12 109905738 109905738 single base substitution G A intron_variant BRCA-UK 12 109905738 109905738 single base substitution G A upstream_gene_variant BRCA-UK 12 109918838 109918838 single base substitution A G upstream_gene_variant BRCA-US 12 109882270 109882270 single base substitution G C downstream_gene_variant BRCA-US 12 109882288 109882288 single base substitution G A downstream_gene_variant BRCA-US 12 109889591 109889591 single base substitution C T 3_prime_UTR_variant BRCA-US 12 109889591 109889591 single base substitution C T downstream_gene_variant BRCA-US 12 109889591 109889591 single base substitution C T exon_variant BRCA-US 12 109889591 109889591 single base substitution C T missense_variant E225K 673G>A BRCA-US 12 109889591 109889591 single base substitution C T missense_variant E251K 751G>A BRCA-US 12 109889591 109889591 single base substitution C T missense_variant E70K 208G>A BRCA-US 12 109889615 109889615 single base substitution C T 3_prime_UTR_variant BRCA-US 12 109889615 109889615 single base substitution C T downstream_gene_variant BRCA-US 12 109889615 109889615 single base substitution C T exon_variant BRCA-US 12 109889615 109889615 single base substitution C T missense_variant E217K 649G>A BRCA-US 12 109889615 109889615 single base substitution C T missense_variant E243K 727G>A BRCA-US 12 109889615 109889615 single base substitution C T missense_variant E62K 184G>A BRCA-US 12 109895450 109895450 single base substitution T G 3_prime_UTR_variant BRCA-US 12 109895450 109895450 single base substitution T G 5_prime_UTR_variant BRCA-US 12 109895450 109895450 single base substitution T G downstream_gene_variant BRCA-US 12 109895450 109895450 single base substitution T G exon_variant BRCA-US 12 109895450 109895450 single base substitution T G missense_variant K142T 425A>C BRCA-US 12 109895450 109895450 single base substitution T G missense_variant K161T 482A>C BRCA-US 12 109895450 109895450 single base substitution T G missense_variant K168T 503A>C BRCA-US 12 109895450 109895450 single base substitution T G missense_variant K171T 512A>C BRCA-US 12 109898454 109898454 single base substitution T C 3_prime_UTR_variant BRCA-US 12 109898454 109898454 single base substitution T C exon_variant BRCA-US 12 109898454 109898454 single base substitution T C intron_variant BRCA-US 12 109898454 109898454 single base substitution T C missense_variant Q122R 365A>G BRCA-US 12 109898454 109898454 single base substitution T C missense_variant Q125R 374A>G BRCA-US 12 109898454 109898454 single base substitution T C upstream_gene_variant BTCA-JP 12 109889462 109889462 single base substitution T C 3_prime_UTR_variant BTCA-JP 12 109889462 109889462 single base substitution T C downstream_gene_variant BTCA-JP 12 109889462 109889462 single base substitution T C exon_variant BTCA-JP 12 109889462 109889462 single base substitution T C missense_variant I113V 337A>G BTCA-JP 12 109889462 109889462 single base substitution T C missense_variant I268V 802A>G BTCA-JP 12 109889462 109889462 single base substitution T C missense_variant I294V 880A>G BTCA-JP 12 109889705 109889705 insertion of <=200bp - ATCAGG downstream_gene_variant BTCA-JP 12 109889705 109889705 insertion of <=200bp - ATCAGG intron_variant BTCA-JP 12 109895447 109895447 single base substitution T C 3_prime_UTR_variant BTCA-JP 12 109895447 109895447 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 12 109895447 109895447 single base substitution T C downstream_gene_variant BTCA-JP 12 109895447 109895447 single base substitution T C exon_variant BTCA-JP 12 109895447 109895447 single base substitution T C missense_variant Y143C 428A>G BTCA-JP 12 109895447 109895447 single base substitution T C missense_variant Y162C 485A>G BTCA-JP 12 109895447 109895447 single base substitution T C missense_variant Y169C 506A>G BTCA-JP 12 109895447 109895447 single base substitution T C missense_variant Y172C 515A>G BTCA-JP 12 109915099 109915099 single base substitution C A 5_prime_UTR_variant BTCA-JP 12 109915099 109915099 single base substitution C A exon_variant BTCA-JP 12 109915099 109915099 single base substitution C A upstream_gene_variant CESC-US 12 109893940 109893940 single base substitution C T 3_prime_UTR_variant CESC-US 12 109893940 109893940 single base substitution C T downstream_gene_variant CESC-US 12 109893940 109893940 single base substitution C T exon_variant CESC-US 12 109893940 109893940 single base substitution C T missense_variant E210K 628G>A CESC-US 12 109893940 109893940 single base substitution C T missense_variant E236K 706G>A CESC-US 12 109893940 109893940 single base substitution C T missense_variant E55K 163G>A CESC-US 12 109898564 109898564 single base substitution G A 3_prime_UTR_variant CESC-US 12 109898564 109898564 single base substitution G A exon_variant CESC-US 12 109898564 109898564 single base substitution G A intron_variant CESC-US 12 109898564 109898564 single base substitution G A synonymous_variant L85L 255C>T CESC-US 12 109898564 109898564 single base substitution G A synonymous_variant L88L 264C>T CESC-US 12 109898564 109898564 single base substitution G A upstream_gene_variant COAD-US 12 109895804 109895804 single base substitution G T 3_prime_UTR_variant COAD-US 12 109895804 109895804 single base substitution G T 5_prime_UTR_variant COAD-US 12 109895804 109895804 single base substitution G T downstream_gene_variant COAD-US 12 109895804 109895804 single base substitution G T exon_variant COAD-US 12 109895804 109895804 single base substitution G T intron_variant COAD-US 12 109895804 109895804 single base substitution G T stop_gained S146* 437C>A COAD-US 12 109895804 109895804 single base substitution G T stop_gained S153* 458C>A COAD-US 12 109895804 109895804 single base substitution G T stop_gained S156* 467C>A COAD-US 12 109895804 109895804 single base substitution G T upstream_gene_variant COAD-US 12 109898513 109898513 single base substitution G A 3_prime_UTR_variant COAD-US 12 109898513 109898513 single base substitution G A exon_variant COAD-US 12 109898513 109898513 single base substitution G A intron_variant COAD-US 12 109898513 109898513 single base substitution G A synonymous_variant I102I 306C>T COAD-US 12 109898513 109898513 single base substitution G A synonymous_variant I105I 315C>T COAD-US 12 109898513 109898513 single base substitution G A upstream_gene_variant COCA-CN 12 109881988 109881988 single base substitution C A downstream_gene_variant COCA-CN 12 109883254 109883254 single base substitution T C downstream_gene_variant COCA-CN 12 109889436 109889436 single base substitution G A 3_prime_UTR_variant COCA-CN 12 109889436 109889436 single base substitution G A downstream_gene_variant COCA-CN 12 109889436 109889436 single base substitution G A exon_variant COCA-CN 12 109889436 109889436 single base substitution G A synonymous_variant I121I 363C>T COCA-CN 12 109889436 109889436 single base substitution G A synonymous_variant I276I 828C>T COCA-CN 12 109889436 109889436 single base substitution G A synonymous_variant I302I 906C>T COCA-CN 12 109893797 109893797 single base substitution G A downstream_gene_variant COCA-CN 12 109893797 109893797 single base substitution G A intron_variant COCA-CN 12 109895545 109895545 single base substitution C G downstream_gene_variant COCA-CN 12 109895545 109895545 single base substitution C G exon_variant COCA-CN 12 109895545 109895545 single base substitution C G intron_variant COCA-CN 12 109907296 109907296 single base substitution C T exon_variant COCA-CN 12 109907296 109907296 single base substitution C T intron_variant COCA-CN 12 109907296 109907296 single base substitution C T upstream_gene_variant COCA-CN 12 109915048 109915048 single base substitution G T intron_variant EOPC-DE 12 109885135 109885135 single base substitution G A downstream_gene_variant EOPC-DE 12 109899892 109899892 single base substitution A G intron_variant EOPC-DE 12 109899892 109899892 single base substitution A G upstream_gene_variant EOPC-DE 12 109916066 109916066 single base substitution G A upstream_gene_variant ESAD-UK 12 109882498 109882498 single base substitution C A downstream_gene_variant ESAD-UK 12 109888284 109888284 single base substitution C A 3_prime_UTR_variant ESAD-UK 12 109888284 109888284 single base substitution C A downstream_gene_variant ESAD-UK 12 109888284 109888284 single base substitution C A exon_variant ESAD-UK 12 109888729 109888729 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 109888729 109888729 single base substitution C T downstream_gene_variant ESAD-UK 12 109888729 109888729 single base substitution C T exon_variant ESAD-UK 12 109892106 109892106 single base substitution T C downstream_gene_variant ESAD-UK 12 109892106 109892106 single base substitution T C intron_variant ESAD-UK 12 109893797 109893797 single base substitution G A downstream_gene_variant ESAD-UK 12 109893797 109893797 single base substitution G A intron_variant ESAD-UK 12 109897447 109897447 single base substitution A C downstream_gene_variant ESAD-UK 12 109897447 109897447 single base substitution A C intron_variant ESAD-UK 12 109897447 109897447 single base substitution A C upstream_gene_variant ESAD-UK 12 109898524 109898524 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 109898524 109898524 single base substitution G A exon_variant ESAD-UK 12 109898524 109898524 single base substitution G A intron_variant ESAD-UK 12 109898524 109898524 single base substitution G A missense_variant R102C 304C>T ESAD-UK 12 109898524 109898524 single base substitution G A missense_variant R99C 295C>T ESAD-UK 12 109898524 109898524 single base substitution G A upstream_gene_variant ESAD-UK 12 109901916 109901916 single base substitution C T downstream_gene_variant ESAD-UK 12 109901916 109901916 single base substitution C T intron_variant ESAD-UK 12 109901916 109901916 single base substitution C T upstream_gene_variant ESAD-UK 12 109902591 109902591 single base substitution T C downstream_gene_variant ESAD-UK 12 109902591 109902591 single base substitution T C exon_variant ESAD-UK 12 109902591 109902591 single base substitution T C intron_variant ESAD-UK 12 109902591 109902591 single base substitution T C upstream_gene_variant ESAD-UK 12 109904463 109904463 single base substitution G A downstream_gene_variant ESAD-UK 12 109904463 109904463 single base substitution G A intron_variant ESAD-UK 12 109904463 109904463 single base substitution G A upstream_gene_variant ESAD-UK 12 109906229 109906229 single base substitution A C downstream_gene_variant ESAD-UK 12 109906229 109906229 single base substitution A C intron_variant ESAD-UK 12 109906229 109906229 single base substitution A C upstream_gene_variant ESAD-UK 12 109906640 109906640 single base substitution G A downstream_gene_variant ESAD-UK 12 109906640 109906640 single base substitution G A intron_variant ESAD-UK 12 109906640 109906640 single base substitution G A upstream_gene_variant ESAD-UK 12 109912133 109912133 single base substitution T C intron_variant ESAD-UK 12 109912133 109912133 single base substitution T C upstream_gene_variant ESAD-UK 12 109912377 109912377 single base substitution A G intron_variant ESAD-UK 12 109912377 109912377 single base substitution A G upstream_gene_variant ESAD-UK 12 109912514 109912514 single base substitution C A intron_variant ESAD-UK 12 109912514 109912514 single base substitution C A upstream_gene_variant ESAD-UK 12 109915310 109915310 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 109915310 109915310 single base substitution C A upstream_gene_variant ESAD-UK 12 109917647 109917647 single base substitution T C upstream_gene_variant ESAD-UK 12 109918715 109918715 single base substitution T A upstream_gene_variant ESCA-CN 12 109889471 109889471 single base substitution G A 3_prime_UTR_variant ESCA-CN 12 109889471 109889471 single base substitution G A downstream_gene_variant ESCA-CN 12 109889471 109889471 single base substitution G A exon_variant ESCA-CN 12 109889471 109889471 single base substitution G A missense_variant R110W 328C>T ESCA-CN 12 109889471 109889471 single base substitution G A missense_variant R265W 793C>T ESCA-CN 12 109889471 109889471 single base substitution G A missense_variant R291W 871C>T ESCA-CN 12 109895481 109895481 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 109895481 109895481 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 12 109895481 109895481 single base substitution C T downstream_gene_variant ESCA-CN 12 109895481 109895481 single base substitution C T exon_variant ESCA-CN 12 109895481 109895481 single base substitution C T missense_variant V132M 394G>A ESCA-CN 12 109895481 109895481 single base substitution C T missense_variant V151M 451G>A ESCA-CN 12 109895481 109895481 single base substitution C T missense_variant V158M 472G>A ESCA-CN 12 109895481 109895481 single base substitution C T missense_variant V161M 481G>A ESCA-CN 12 109907303 109907303 single base substitution A G exon_variant ESCA-CN 12 109907303 109907303 single base substitution A G intron_variant ESCA-CN 12 109907303 109907303 single base substitution A G upstream_gene_variant GBM-US 12 109889455 109889455 single base substitution C T 3_prime_UTR_variant GBM-US 12 109889455 109889455 single base substitution C T downstream_gene_variant GBM-US 12 109889455 109889455 single base substitution C T exon_variant GBM-US 12 109889455 109889455 single base substitution C T missense_variant R115H 344G>A GBM-US 12 109889455 109889455 single base substitution C T missense_variant R270H 809G>A GBM-US 12 109889455 109889455 single base substitution C T missense_variant R296H 887G>A KIRC-US 12 109907503 109907503 single base substitution A T 3_prime_UTR_variant KIRC-US 12 109907503 109907503 single base substitution A T 5_prime_UTR_variant KIRC-US 12 109907503 109907503 single base substitution A T exon_variant KIRC-US 12 109907503 109907503 single base substitution A T intron_variant KIRC-US 12 109907503 109907503 single base substitution A T missense_variant S12T 34T>A KIRC-US 12 109907503 109907503 single base substitution A T missense_variant S9T 25T>A KIRC-US 12 109907503 109907503 single base substitution A T upstream_gene_variant KIRP-US 12 109889450 109889450 single base substitution G T 3_prime_UTR_variant KIRP-US 12 109889450 109889450 single base substitution G T downstream_gene_variant KIRP-US 12 109889450 109889450 single base substitution G T exon_variant KIRP-US 12 109889450 109889450 single base substitution G T synonymous_variant R117R 349C>A KIRP-US 12 109889450 109889450 single base substitution G T synonymous_variant R272R 814C>A KIRP-US 12 109889450 109889450 single base substitution G T synonymous_variant R298R 892C>A LAML-KR 12 109907206 109907206 single base substitution A G exon_variant LAML-KR 12 109907206 109907206 single base substitution A G intron_variant LAML-KR 12 109907206 109907206 single base substitution A G upstream_gene_variant LGG-US 12 109889453 109889453 single base substitution C T 3_prime_UTR_variant LGG-US 12 109889453 109889453 single base substitution C T downstream_gene_variant LGG-US 12 109889453 109889453 single base substitution C T exon_variant LGG-US 12 109889453 109889453 single base substitution C T missense_variant V116M 346G>A LGG-US 12 109889453 109889453 single base substitution C T missense_variant V271M 811G>A LGG-US 12 109889453 109889453 single base substitution C T missense_variant V297M 889G>A LICA-FR 12 109889044 109889044 single base substitution C A 3_prime_UTR_variant LICA-FR 12 109889044 109889044 single base substitution C A downstream_gene_variant LICA-FR 12 109889044 109889044 single base substitution C A exon_variant LINC-JP 12 109883324 109883324 single base substitution G T downstream_gene_variant LINC-JP 12 109883551 109883551 single base substitution T C downstream_gene_variant LINC-JP 12 109886495 109886495 single base substitution G A 3_prime_UTR_variant LINC-JP 12 109886495 109886495 single base substitution G A downstream_gene_variant LINC-JP 12 109889705 109889705 insertion of <=200bp - ATCAGG downstream_gene_variant LINC-JP 12 109889705 109889705 insertion of <=200bp - ATCAGG intron_variant LINC-JP 12 109895578 109895578 single base substitution T A downstream_gene_variant LINC-JP 12 109895578 109895578 single base substitution T A exon_variant LINC-JP 12 109895578 109895578 single base substitution T A intron_variant LINC-JP 12 109910527 109910527 single base substitution T C intron_variant LINC-JP 12 109910527 109910527 single base substitution T C upstream_gene_variant LINC-JP 12 109916180 109916180 single base substitution A G upstream_gene_variant LIRI-JP 12 109885279 109885279 single base substitution G A downstream_gene_variant LIRI-JP 12 109885999 109885999 single base substitution C A downstream_gene_variant LIRI-JP 12 109886906 109886906 single base substitution A T 3_prime_UTR_variant LIRI-JP 12 109886906 109886906 single base substitution A T downstream_gene_variant LIRI-JP 12 109888937 109888937 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 109888937 109888937 single base substitution T C downstream_gene_variant LIRI-JP 12 109888937 109888937 single base substitution T C exon_variant LIRI-JP 12 109890211 109890211 single base substitution T C downstream_gene_variant LIRI-JP 12 109890211 109890211 single base substitution T C intron_variant LIRI-JP 12 109892067 109892067 single base substitution A C downstream_gene_variant LIRI-JP 12 109892067 109892067 single base substitution A C intron_variant LIRI-JP 12 109893989 109893989 single base substitution C T 3_prime_UTR_variant LIRI-JP 12 109893989 109893989 single base substitution C T downstream_gene_variant LIRI-JP 12 109893989 109893989 single base substitution C T exon_variant LIRI-JP 12 109893989 109893989 single base substitution C T synonymous_variant Q193Q 579G>A LIRI-JP 12 109893989 109893989 single base substitution C T synonymous_variant Q219Q 657G>A LIRI-JP 12 109893989 109893989 single base substitution C T synonymous_variant Q38Q 114G>A LIRI-JP 12 109898057 109898057 single base substitution A C downstream_gene_variant LIRI-JP 12 109898057 109898057 single base substitution A C intron_variant LIRI-JP 12 109898057 109898057 single base substitution A C upstream_gene_variant LIRI-JP 12 109900050 109900050 single base substitution C G intron_variant LIRI-JP 12 109900050 109900050 single base substitution C G upstream_gene_variant LIRI-JP 12 109900301 109900301 single base substitution C T intron_variant LIRI-JP 12 109900301 109900301 single base substitution C T upstream_gene_variant LIRI-JP 12 109904489 109904489 deletion of <=200bp C - downstream_gene_variant LIRI-JP 12 109904489 109904489 deletion of <=200bp C - intron_variant LIRI-JP 12 109904489 109904489 deletion of <=200bp C - upstream_gene_variant LIRI-JP 12 109905346 109905346 single base substitution G C downstream_gene_variant LIRI-JP 12 109905346 109905346 single base substitution G C intron_variant LIRI-JP 12 109905346 109905346 single base substitution G C upstream_gene_variant LIRI-JP 12 109906220 109906220 single base substitution G C downstream_gene_variant LIRI-JP 12 109906220 109906220 single base substitution G C intron_variant LIRI-JP 12 109906220 109906220 single base substitution G C upstream_gene_variant LIRI-JP 12 109906221 109906221 single base substitution C A downstream_gene_variant LIRI-JP 12 109906221 109906221 single base substitution C A intron_variant LIRI-JP 12 109906221 109906221 single base substitution C A upstream_gene_variant LIRI-JP 12 109908825 109908825 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 109908825 109908825 single base substitution C A intron_variant LIRI-JP 12 109908825 109908825 single base substitution C A upstream_gene_variant LIRI-JP 12 109909226 109909226 single base substitution G C intron_variant LIRI-JP 12 109909226 109909226 single base substitution G C upstream_gene_variant LIRI-JP 12 109910991 109910991 single base substitution G A intron_variant LIRI-JP 12 109910991 109910991 single base substitution G A upstream_gene_variant LIRI-JP 12 109911536 109911536 single base substitution T C intron_variant LIRI-JP 12 109911536 109911536 single base substitution T C upstream_gene_variant LIRI-JP 12 109913986 109913986 single base substitution T C intron_variant LIRI-JP 12 109917780 109917780 insertion of <=200bp - T upstream_gene_variant LIRI-JP 12 109918273 109918273 single base substitution T G upstream_gene_variant LIRI-JP 12 109918290 109918290 single base substitution T C upstream_gene_variant LIRI-JP 12 109919213 109919213 single base substitution A G upstream_gene_variant LIRI-JP 12 109920334 109920334 single base substitution T C upstream_gene_variant LUSC-KR 12 109885390 109885390 single base substitution A T downstream_gene_variant LUSC-KR 12 109890096 109890096 single base substitution C A downstream_gene_variant LUSC-KR 12 109890096 109890096 single base substitution C A intron_variant LUSC-KR 12 109896007 109896007 single base substitution T G 5_prime_UTR_variant LUSC-KR 12 109896007 109896007 single base substitution T G downstream_gene_variant LUSC-KR 12 109896007 109896007 single base substitution T G exon_variant LUSC-KR 12 109896007 109896007 single base substitution T G intron_variant LUSC-KR 12 109896007 109896007 single base substitution T G upstream_gene_variant LUSC-KR 12 109901310 109901310 single base substitution C T intron_variant LUSC-KR 12 109901310 109901310 single base substitution C T upstream_gene_variant LUSC-KR 12 109905098 109905098 single base substitution C A downstream_gene_variant LUSC-KR 12 109905098 109905098 single base substitution C A intron_variant LUSC-KR 12 109905098 109905098 single base substitution C A upstream_gene_variant LUSC-KR 12 109907268 109907268 single base substitution C A exon_variant LUSC-KR 12 109907268 109907268 single base substitution C A intron_variant LUSC-KR 12 109907268 109907268 single base substitution C A upstream_gene_variant LUSC-KR 12 109907319 109907319 single base substitution C A exon_variant LUSC-KR 12 109907319 109907319 single base substitution C A intron_variant LUSC-KR 12 109907319 109907319 single base substitution C A splice_donor_variant LUSC-KR 12 109907319 109907319 single base substitution C A upstream_gene_variant LUSC-KR 12 109910728 109910728 single base substitution C T intron_variant LUSC-KR 12 109910728 109910728 single base substitution C T upstream_gene_variant LUSC-KR 12 109912332 109912332 single base substitution C T intron_variant LUSC-KR 12 109912332 109912332 single base substitution C T upstream_gene_variant LUSC-KR 12 109914712 109914712 single base substitution G A intron_variant LUSC-KR 12 109915235 109915235 single base substitution A G 5_prime_UTR_variant LUSC-KR 12 109915235 109915235 single base substitution A G upstream_gene_variant LUSC-US 12 109894110 109894110 single base substitution T C 3_prime_UTR_variant LUSC-US 12 109894110 109894110 single base substitution T C 5_prime_UTR_variant LUSC-US 12 109894110 109894110 single base substitution T C downstream_gene_variant LUSC-US 12 109894110 109894110 single base substitution T C exon_variant LUSC-US 12 109894110 109894110 single base substitution T C intron_variant LUSC-US 12 109894110 109894110 single base substitution T C missense_variant D150G 449A>G LUSC-US 12 109894110 109894110 single base substitution T C missense_variant D169G 506A>G LUSC-US 12 109894110 109894110 single base substitution T C missense_variant D179G 536A>G LUSC-US 12 109895804 109895804 single base substitution G T 3_prime_UTR_variant LUSC-US 12 109895804 109895804 single base substitution G T 5_prime_UTR_variant LUSC-US 12 109895804 109895804 single base substitution G T downstream_gene_variant LUSC-US 12 109895804 109895804 single base substitution G T exon_variant LUSC-US 12 109895804 109895804 single base substitution G T intron_variant LUSC-US 12 109895804 109895804 single base substitution G T stop_gained S146* 437C>A LUSC-US 12 109895804 109895804 single base substitution G T stop_gained S153* 458C>A LUSC-US 12 109895804 109895804 single base substitution G T stop_gained S156* 467C>A LUSC-US 12 109895804 109895804 single base substitution G T upstream_gene_variant MALY-DE 12 109890954 109890954 single base substitution C T downstream_gene_variant MALY-DE 12 109890954 109890954 single base substitution C T intron_variant MALY-DE 12 109899652 109899652 single base substitution C T intron_variant MALY-DE 12 109899652 109899652 single base substitution C T upstream_gene_variant MALY-DE 12 109903439 109903439 single base substitution A C downstream_gene_variant MALY-DE 12 109903439 109903439 single base substitution A C intron_variant MALY-DE 12 109903439 109903439 single base substitution A C upstream_gene_variant MALY-DE 12 109913132 109913132 single base substitution A T intron_variant MELA-AU 12 109883620 109883620 single base substitution A T downstream_gene_variant MELA-AU 12 109884332 109884332 single base substitution G A downstream_gene_variant MELA-AU 12 109884388 109884388 single base substitution G A downstream_gene_variant MELA-AU 12 109884630 109884630 single base substitution G A downstream_gene_variant MELA-AU 12 109884945 109884945 single base substitution A C downstream_gene_variant MELA-AU 12 109885252 109885252 single base substitution G A downstream_gene_variant MELA-AU 12 109885800 109885800 single base substitution T C downstream_gene_variant MELA-AU 12 109885944 109885944 single base substitution A T downstream_gene_variant MELA-AU 12 109886118 109886118 single base substitution G A downstream_gene_variant MELA-AU 12 109886404 109886404 single base substitution A G downstream_gene_variant MELA-AU 12 109886757 109886757 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109886757 109886757 single base substitution G A downstream_gene_variant MELA-AU 12 109886891 109886891 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109886891 109886891 single base substitution G A downstream_gene_variant MELA-AU 12 109887401 109887401 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109887401 109887401 single base substitution G A downstream_gene_variant MELA-AU 12 109887424 109887424 single base substitution G C 3_prime_UTR_variant MELA-AU 12 109887424 109887424 single base substitution G C downstream_gene_variant MELA-AU 12 109888567 109888567 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109888567 109888567 single base substitution C T downstream_gene_variant MELA-AU 12 109888567 109888567 single base substitution C T exon_variant MELA-AU 12 109888581 109888581 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109888581 109888581 single base substitution G A downstream_gene_variant MELA-AU 12 109888581 109888581 single base substitution G A exon_variant MELA-AU 12 109888612 109888612 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109888612 109888612 single base substitution G A downstream_gene_variant MELA-AU 12 109888612 109888612 single base substitution G A exon_variant MELA-AU 12 109888708 109888708 single base substitution A G 3_prime_UTR_variant MELA-AU 12 109888708 109888708 single base substitution A G downstream_gene_variant MELA-AU 12 109888708 109888708 single base substitution A G exon_variant MELA-AU 12 109888770 109888770 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109888770 109888770 single base substitution G A downstream_gene_variant MELA-AU 12 109888770 109888770 single base substitution G A exon_variant MELA-AU 12 109888859 109888859 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109888859 109888859 single base substitution G A downstream_gene_variant MELA-AU 12 109888859 109888859 single base substitution G A exon_variant MELA-AU 12 109889021 109889021 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109889021 109889021 single base substitution G A downstream_gene_variant MELA-AU 12 109889021 109889021 single base substitution G A exon_variant MELA-AU 12 109889813 109889813 single base substitution G A downstream_gene_variant MELA-AU 12 109889813 109889813 single base substitution G A intron_variant MELA-AU 12 109889890 109889890 single base substitution G A downstream_gene_variant MELA-AU 12 109889890 109889890 single base substitution G A intron_variant MELA-AU 12 109893015 109893015 single base substitution G A downstream_gene_variant MELA-AU 12 109893015 109893015 single base substitution G A intron_variant MELA-AU 12 109893043 109893043 single base substitution T C downstream_gene_variant MELA-AU 12 109893043 109893043 single base substitution T C intron_variant MELA-AU 12 109893147 109893147 single base substitution G A downstream_gene_variant MELA-AU 12 109893147 109893147 single base substitution G A intron_variant MELA-AU 12 109893461 109893461 single base substitution C A downstream_gene_variant MELA-AU 12 109893461 109893461 single base substitution C A intron_variant MELA-AU 12 109893707 109893707 single base substitution G A downstream_gene_variant MELA-AU 12 109893707 109893707 single base substitution G A intron_variant MELA-AU 12 109894001 109894002 multiple base substitution (>=2bp and <=200bp) GG TA 3_prime_UTR_variant MELA-AU 12 109894001 109894002 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 12 109894001 109894002 multiple base substitution (>=2bp and <=200bp) GG TA exon_variant MELA-AU 12 109894001 109894002 multiple base substitution (>=2bp and <=200bp) GG TA missense_variant S189L 566CC>TA MELA-AU 12 109894001 109894002 multiple base substitution (>=2bp and <=200bp) GG TA missense_variant S215L 644CC>TA MELA-AU 12 109894001 109894002 multiple base substitution (>=2bp and <=200bp) GG TA missense_variant S34L 101CC>TA MELA-AU 12 109894485 109894485 single base substitution G A downstream_gene_variant MELA-AU 12 109894485 109894485 single base substitution G A exon_variant MELA-AU 12 109894485 109894485 single base substitution G A intron_variant MELA-AU 12 109894539 109894539 single base substitution C T downstream_gene_variant MELA-AU 12 109894539 109894539 single base substitution C T exon_variant MELA-AU 12 109894539 109894539 single base substitution C T intron_variant MELA-AU 12 109894568 109894568 single base substitution G A downstream_gene_variant MELA-AU 12 109894568 109894568 single base substitution G A exon_variant MELA-AU 12 109894568 109894568 single base substitution G A intron_variant MELA-AU 12 109894720 109894720 single base substitution C T downstream_gene_variant MELA-AU 12 109894720 109894720 single base substitution C T exon_variant MELA-AU 12 109894720 109894720 single base substitution C T intron_variant MELA-AU 12 109895357 109895357 single base substitution G A downstream_gene_variant MELA-AU 12 109895357 109895357 single base substitution G A exon_variant MELA-AU 12 109895357 109895357 single base substitution G A intron_variant MELA-AU 12 109895407 109895407 single base substitution G A downstream_gene_variant MELA-AU 12 109895407 109895407 single base substitution G A exon_variant MELA-AU 12 109895407 109895407 single base substitution G A intron_variant MELA-AU 12 109895809 109895809 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109895809 109895809 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109895809 109895809 single base substitution C T downstream_gene_variant MELA-AU 12 109895809 109895809 single base substitution C T exon_variant MELA-AU 12 109895809 109895809 single base substitution C T intron_variant MELA-AU 12 109895809 109895809 single base substitution C T synonymous_variant A144A 432G>A MELA-AU 12 109895809 109895809 single base substitution C T synonymous_variant A151A 453G>A MELA-AU 12 109895809 109895809 single base substitution C T synonymous_variant A154A 462G>A MELA-AU 12 109895809 109895809 single base substitution C T upstream_gene_variant MELA-AU 12 109895890 109895890 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109895890 109895890 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109895890 109895890 single base substitution G A downstream_gene_variant MELA-AU 12 109895890 109895890 single base substitution G A exon_variant MELA-AU 12 109895890 109895890 single base substitution G A intron_variant MELA-AU 12 109895890 109895890 single base substitution G A splice_region_variant MELA-AU 12 109895890 109895890 single base substitution G A upstream_gene_variant MELA-AU 12 109895993 109895993 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109895993 109895993 single base substitution G A downstream_gene_variant MELA-AU 12 109895993 109895993 single base substitution G A exon_variant MELA-AU 12 109895993 109895993 single base substitution G A intron_variant MELA-AU 12 109895993 109895993 single base substitution G A splice_region_variant MELA-AU 12 109895993 109895993 single base substitution G A upstream_gene_variant MELA-AU 12 109896043 109896043 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109896043 109896043 single base substitution G A downstream_gene_variant MELA-AU 12 109896043 109896043 single base substitution G A exon_variant MELA-AU 12 109896043 109896043 single base substitution G A intron_variant MELA-AU 12 109896043 109896043 single base substitution G A upstream_gene_variant MELA-AU 12 109896374 109896374 single base substitution T C 5_prime_UTR_variant MELA-AU 12 109896374 109896374 single base substitution T C downstream_gene_variant MELA-AU 12 109896374 109896374 single base substitution T C exon_variant MELA-AU 12 109896374 109896374 single base substitution T C intron_variant MELA-AU 12 109896374 109896374 single base substitution T C upstream_gene_variant MELA-AU 12 109896380 109896380 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109896380 109896380 single base substitution G A downstream_gene_variant MELA-AU 12 109896380 109896380 single base substitution G A exon_variant MELA-AU 12 109896380 109896380 single base substitution G A intron_variant MELA-AU 12 109896380 109896380 single base substitution G A upstream_gene_variant MELA-AU 12 109896389 109896389 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109896389 109896389 single base substitution G A downstream_gene_variant MELA-AU 12 109896389 109896389 single base substitution G A exon_variant MELA-AU 12 109896389 109896389 single base substitution G A intron_variant MELA-AU 12 109896389 109896389 single base substitution G A upstream_gene_variant MELA-AU 12 109896484 109896484 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 109896484 109896484 single base substitution G A downstream_gene_variant MELA-AU 12 109896484 109896484 single base substitution G A exon_variant MELA-AU 12 109896484 109896484 single base substitution G A intron_variant MELA-AU 12 109896484 109896484 single base substitution G A upstream_gene_variant MELA-AU 12 109896500 109896500 single base substitution G A 5_prime_UTR_variant MELA-AU 12 109896500 109896500 single base substitution G A downstream_gene_variant MELA-AU 12 109896500 109896500 single base substitution G A exon_variant MELA-AU 12 109896500 109896500 single base substitution G A intron_variant MELA-AU 12 109896500 109896500 single base substitution G A upstream_gene_variant MELA-AU 12 109896734 109896734 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109896734 109896734 single base substitution C T downstream_gene_variant MELA-AU 12 109896734 109896734 single base substitution C T exon_variant MELA-AU 12 109896734 109896734 single base substitution C T intron_variant MELA-AU 12 109896734 109896734 single base substitution C T upstream_gene_variant MELA-AU 12 109897151 109897151 single base substitution G A downstream_gene_variant MELA-AU 12 109897151 109897151 single base substitution G A exon_variant MELA-AU 12 109897151 109897151 single base substitution G A intron_variant MELA-AU 12 109897151 109897151 single base substitution G A upstream_gene_variant MELA-AU 12 109897336 109897336 single base substitution A T downstream_gene_variant MELA-AU 12 109897336 109897336 single base substitution A T exon_variant MELA-AU 12 109897336 109897336 single base substitution A T intron_variant MELA-AU 12 109897336 109897336 single base substitution A T upstream_gene_variant MELA-AU 12 109897443 109897443 single base substitution G A downstream_gene_variant MELA-AU 12 109897443 109897443 single base substitution G A intron_variant MELA-AU 12 109897443 109897443 single base substitution G A upstream_gene_variant MELA-AU 12 109898106 109898106 single base substitution G A downstream_gene_variant MELA-AU 12 109898106 109898106 single base substitution G A intron_variant MELA-AU 12 109898106 109898106 single base substitution G A upstream_gene_variant MELA-AU 12 109898125 109898125 single base substitution A G downstream_gene_variant MELA-AU 12 109898125 109898125 single base substitution A G intron_variant MELA-AU 12 109898125 109898125 single base substitution A G upstream_gene_variant MELA-AU 12 109898660 109898660 single base substitution G A intron_variant MELA-AU 12 109898660 109898660 single base substitution G A upstream_gene_variant MELA-AU 12 109898710 109898710 single base substitution G A intron_variant MELA-AU 12 109898710 109898710 single base substitution G A upstream_gene_variant MELA-AU 12 109899034 109899034 single base substitution C A intron_variant MELA-AU 12 109899034 109899034 single base substitution C A upstream_gene_variant MELA-AU 12 109899506 109899506 single base substitution G T intron_variant MELA-AU 12 109899506 109899506 single base substitution G T upstream_gene_variant MELA-AU 12 109899642 109899642 single base substitution G A intron_variant MELA-AU 12 109899642 109899642 single base substitution G A upstream_gene_variant MELA-AU 12 109900494 109900494 single base substitution G A intron_variant MELA-AU 12 109900494 109900494 single base substitution G A upstream_gene_variant MELA-AU 12 109902079 109902079 single base substitution G A downstream_gene_variant MELA-AU 12 109902079 109902079 single base substitution G A intron_variant MELA-AU 12 109902079 109902079 single base substitution G A upstream_gene_variant MELA-AU 12 109902817 109902817 single base substitution G A downstream_gene_variant MELA-AU 12 109902817 109902817 single base substitution G A intron_variant MELA-AU 12 109902817 109902817 single base substitution G A upstream_gene_variant MELA-AU 12 109903416 109903416 single base substitution G A downstream_gene_variant MELA-AU 12 109903416 109903416 single base substitution G A intron_variant MELA-AU 12 109903416 109903416 single base substitution G A upstream_gene_variant MELA-AU 12 109903583 109903583 single base substitution G A downstream_gene_variant MELA-AU 12 109903583 109903583 single base substitution G A intron_variant MELA-AU 12 109903583 109903583 single base substitution G A upstream_gene_variant MELA-AU 12 109903584 109903584 single base substitution G A downstream_gene_variant MELA-AU 12 109903584 109903584 single base substitution G A intron_variant MELA-AU 12 109903584 109903584 single base substitution G A upstream_gene_variant MELA-AU 12 109903750 109903750 single base substitution G A downstream_gene_variant MELA-AU 12 109903750 109903750 single base substitution G A intron_variant MELA-AU 12 109903750 109903750 single base substitution G A upstream_gene_variant MELA-AU 12 109904283 109904283 single base substitution G A downstream_gene_variant MELA-AU 12 109904283 109904283 single base substitution G A intron_variant MELA-AU 12 109904283 109904283 single base substitution G A upstream_gene_variant MELA-AU 12 109904473 109904473 single base substitution C A downstream_gene_variant MELA-AU 12 109904473 109904473 single base substitution C A intron_variant MELA-AU 12 109904473 109904473 single base substitution C A upstream_gene_variant MELA-AU 12 109904943 109904943 single base substitution G A downstream_gene_variant MELA-AU 12 109904943 109904943 single base substitution G A intron_variant MELA-AU 12 109904943 109904943 single base substitution G A upstream_gene_variant MELA-AU 12 109905183 109905183 single base substitution G A downstream_gene_variant MELA-AU 12 109905183 109905183 single base substitution G A intron_variant MELA-AU 12 109905183 109905183 single base substitution G A upstream_gene_variant MELA-AU 12 109905676 109905676 single base substitution G A downstream_gene_variant MELA-AU 12 109905676 109905676 single base substitution G A intron_variant MELA-AU 12 109905676 109905676 single base substitution G A upstream_gene_variant MELA-AU 12 109906481 109906481 single base substitution G A downstream_gene_variant MELA-AU 12 109906481 109906481 single base substitution G A intron_variant MELA-AU 12 109906481 109906481 single base substitution G A upstream_gene_variant MELA-AU 12 109907201 109907201 single base substitution C T exon_variant MELA-AU 12 109907201 109907201 single base substitution C T intron_variant MELA-AU 12 109907201 109907201 single base substitution C T upstream_gene_variant MELA-AU 12 109908371 109908371 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109908371 109908371 single base substitution G A intron_variant MELA-AU 12 109908371 109908371 single base substitution G A upstream_gene_variant MELA-AU 12 109909221 109909221 single base substitution G A intron_variant MELA-AU 12 109909221 109909221 single base substitution G A upstream_gene_variant MELA-AU 12 109909270 109909270 single base substitution G A intron_variant MELA-AU 12 109909270 109909270 single base substitution G A upstream_gene_variant MELA-AU 12 109909969 109909969 single base substitution A T intron_variant MELA-AU 12 109909969 109909969 single base substitution A T upstream_gene_variant MELA-AU 12 109910690 109910690 single base substitution G A intron_variant MELA-AU 12 109910690 109910690 single base substitution G A upstream_gene_variant MELA-AU 12 109910803 109910803 single base substitution G A intron_variant MELA-AU 12 109910803 109910803 single base substitution G A upstream_gene_variant MELA-AU 12 109910860 109910860 single base substitution G A intron_variant MELA-AU 12 109910860 109910860 single base substitution G A upstream_gene_variant MELA-AU 12 109911113 109911113 single base substitution G A intron_variant MELA-AU 12 109911113 109911113 single base substitution G A upstream_gene_variant MELA-AU 12 109911722 109911722 single base substitution G A intron_variant MELA-AU 12 109911722 109911722 single base substitution G A upstream_gene_variant MELA-AU 12 109911855 109911855 single base substitution G A intron_variant MELA-AU 12 109911855 109911855 single base substitution G A upstream_gene_variant MELA-AU 12 109911972 109911972 single base substitution G A intron_variant MELA-AU 12 109911972 109911972 single base substitution G A upstream_gene_variant MELA-AU 12 109912061 109912061 single base substitution T A intron_variant MELA-AU 12 109912061 109912061 single base substitution T A upstream_gene_variant MELA-AU 12 109912160 109912160 single base substitution A C intron_variant MELA-AU 12 109912160 109912160 single base substitution A C upstream_gene_variant MELA-AU 12 109912341 109912341 single base substitution G A intron_variant MELA-AU 12 109912341 109912341 single base substitution G A upstream_gene_variant MELA-AU 12 109912377 109912377 single base substitution A G intron_variant MELA-AU 12 109912377 109912377 single base substitution A G upstream_gene_variant MELA-AU 12 109912733 109912733 single base substitution G A intron_variant MELA-AU 12 109912752 109912752 single base substitution G A intron_variant MELA-AU 12 109915163 109915163 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 109915163 109915163 single base substitution G A upstream_gene_variant MELA-AU 12 109915171 109915171 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109915171 109915171 single base substitution C T upstream_gene_variant MELA-AU 12 109915191 109915191 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109915191 109915191 single base substitution C T upstream_gene_variant MELA-AU 12 109915192 109915192 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109915192 109915192 single base substitution C T upstream_gene_variant MELA-AU 12 109915223 109915223 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109915223 109915223 single base substitution C T upstream_gene_variant MELA-AU 12 109915308 109915308 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109915308 109915308 single base substitution C T upstream_gene_variant MELA-AU 12 109915361 109915362 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 109915419 109915419 single base substitution C T upstream_gene_variant MELA-AU 12 109915447 109915447 single base substitution C T upstream_gene_variant MELA-AU 12 109915947 109915947 single base substitution C T upstream_gene_variant MELA-AU 12 109916070 109916070 single base substitution C T upstream_gene_variant MELA-AU 12 109916603 109916603 single base substitution C T upstream_gene_variant MELA-AU 12 109917036 109917036 single base substitution C T upstream_gene_variant MELA-AU 12 109917684 109917684 single base substitution G A upstream_gene_variant MELA-AU 12 109917803 109917803 single base substitution C T upstream_gene_variant MELA-AU 12 109918485 109918485 single base substitution C T upstream_gene_variant MELA-AU 12 109919198 109919198 single base substitution C T upstream_gene_variant MELA-AU 12 109920122 109920122 single base substitution C T upstream_gene_variant ORCA-IN 12 109883415 109883415 single base substitution G T downstream_gene_variant ORCA-IN 12 109885777 109885777 single base substitution G A downstream_gene_variant ORCA-IN 12 109889588 109889588 single base substitution C T 3_prime_UTR_variant ORCA-IN 12 109889588 109889588 single base substitution C T downstream_gene_variant ORCA-IN 12 109889588 109889588 single base substitution C T exon_variant ORCA-IN 12 109889588 109889588 single base substitution C T missense_variant E226K 676G>A ORCA-IN 12 109889588 109889588 single base substitution C T missense_variant E252K 754G>A ORCA-IN 12 109889588 109889588 single base substitution C T missense_variant E71K 211G>A ORCA-IN 12 109889591 109889591 single base substitution C T 3_prime_UTR_variant ORCA-IN 12 109889591 109889591 single base substitution C T downstream_gene_variant ORCA-IN 12 109889591 109889591 single base substitution C T exon_variant ORCA-IN 12 109889591 109889591 single base substitution C T missense_variant E225K 673G>A ORCA-IN 12 109889591 109889591 single base substitution C T missense_variant E251K 751G>A ORCA-IN 12 109889591 109889591 single base substitution C T missense_variant E70K 208G>A ORCA-IN 12 109894768 109894768 single base substitution C T downstream_gene_variant ORCA-IN 12 109894768 109894768 single base substitution C T exon_variant ORCA-IN 12 109894768 109894768 single base substitution C T intron_variant ORCA-IN 12 109898181 109898181 single base substitution G A 5_prime_UTR_variant ORCA-IN 12 109898181 109898181 single base substitution G A exon_variant ORCA-IN 12 109898181 109898181 single base substitution G A intron_variant ORCA-IN 12 109898181 109898181 single base substitution G A upstream_gene_variant OV-AU 12 109884265 109884265 single base substitution T G downstream_gene_variant OV-AU 12 109885744 109885744 single base substitution C T downstream_gene_variant OV-AU 12 109886030 109886030 single base substitution C T downstream_gene_variant OV-AU 12 109887556 109887556 single base substitution T C 3_prime_UTR_variant OV-AU 12 109887556 109887556 single base substitution T C downstream_gene_variant OV-AU 12 109890190 109890190 single base substitution C A downstream_gene_variant OV-AU 12 109890190 109890190 single base substitution C A intron_variant OV-AU 12 109895758 109895758 single base substitution G C downstream_gene_variant OV-AU 12 109895758 109895758 single base substitution G C exon_variant OV-AU 12 109895758 109895758 single base substitution G C intron_variant OV-AU 12 109897701 109897701 single base substitution G T downstream_gene_variant OV-AU 12 109897701 109897701 single base substitution G T intron_variant OV-AU 12 109897701 109897701 single base substitution G T upstream_gene_variant OV-AU 12 109901448 109901448 single base substitution G A intron_variant OV-AU 12 109901448 109901448 single base substitution G A upstream_gene_variant OV-AU 12 109916567 109916567 single base substitution C G upstream_gene_variant OV-AU 12 109917903 109917903 single base substitution A G upstream_gene_variant OV-AU 12 109918865 109918865 single base substitution G A upstream_gene_variant PACA-AU 12 109883120 109883120 single base substitution T A downstream_gene_variant PACA-AU 12 109889600 109889600 single base substitution G A 3_prime_UTR_variant PACA-AU 12 109889600 109889600 single base substitution G A downstream_gene_variant PACA-AU 12 109889600 109889600 single base substitution G A exon_variant PACA-AU 12 109889600 109889600 single base substitution G A missense_variant R222W 664C>T PACA-AU 12 109889600 109889600 single base substitution G A missense_variant R248W 742C>T PACA-AU 12 109889600 109889600 single base substitution G A missense_variant R67W 199C>T PACA-AU 12 109892309 109892309 single base substitution G T downstream_gene_variant PACA-AU 12 109892309 109892309 single base substitution G T intron_variant PACA-AU 12 109895176 109895176 single base substitution C A downstream_gene_variant PACA-AU 12 109895176 109895176 single base substitution C A exon_variant PACA-AU 12 109895176 109895176 single base substitution C A intron_variant PACA-AU 12 109895177 109895177 single base substitution C A downstream_gene_variant PACA-AU 12 109895177 109895177 single base substitution C A exon_variant PACA-AU 12 109895177 109895177 single base substitution C A intron_variant PACA-AU 12 109908288 109908288 single base substitution G T 3_prime_UTR_variant PACA-AU 12 109908288 109908288 single base substitution G T intron_variant PACA-AU 12 109908288 109908288 single base substitution G T upstream_gene_variant PACA-AU 12 109908349 109908349 single base substitution A G 3_prime_UTR_variant PACA-AU 12 109908349 109908349 single base substitution A G intron_variant PACA-AU 12 109908349 109908349 single base substitution A G upstream_gene_variant PACA-AU 12 109918524 109918527 deletion of <=200bp TGTG - upstream_gene_variant PACA-CA 12 109882804 109882804 single base substitution G A downstream_gene_variant PACA-CA 12 109883374 109883374 single base substitution T C downstream_gene_variant PACA-CA 12 109890659 109890659 single base substitution T A downstream_gene_variant PACA-CA 12 109890659 109890659 single base substitution T A intron_variant PACA-CA 12 109890845 109890845 single base substitution G A downstream_gene_variant PACA-CA 12 109890845 109890845 single base substitution G A intron_variant PACA-CA 12 109891189 109891189 single base substitution G A downstream_gene_variant PACA-CA 12 109891189 109891189 single base substitution G A intron_variant PACA-CA 12 109898671 109898671 single base substitution C G intron_variant PACA-CA 12 109898671 109898671 single base substitution C G upstream_gene_variant PACA-CA 12 109899918 109899918 single base substitution G C intron_variant PACA-CA 12 109899918 109899918 single base substitution G C upstream_gene_variant PACA-CA 12 109901765 109901765 single base substitution G C intron_variant PACA-CA 12 109901765 109901765 single base substitution G C upstream_gene_variant PACA-CA 12 109902317 109902317 single base substitution A G downstream_gene_variant PACA-CA 12 109902317 109902317 single base substitution A G intron_variant PACA-CA 12 109902317 109902317 single base substitution A G upstream_gene_variant PACA-CA 12 109907456 109907456 single base substitution C T 3_prime_UTR_variant PACA-CA 12 109907456 109907456 single base substitution C T 5_prime_UTR_variant PACA-CA 12 109907456 109907456 single base substitution C T exon_variant PACA-CA 12 109907456 109907456 single base substitution C T intron_variant PACA-CA 12 109907456 109907456 single base substitution C T synonymous_variant T24T 72G>A PACA-CA 12 109907456 109907456 single base substitution C T synonymous_variant T27T 81G>A PACA-CA 12 109907456 109907456 single base substitution C T upstream_gene_variant PACA-CA 12 109917563 109917563 single base substitution T A upstream_gene_variant PACA-CA 12 109917808 109917808 single base substitution G A upstream_gene_variant PACA-CA 12 109918807 109918807 single base substitution C T upstream_gene_variant PACA-CA 12 109919705 109919705 single base substitution T C upstream_gene_variant PACA-CA 12 109919842 109919842 deletion of <=200bp T - upstream_gene_variant PBCA-DE 12 109893837 109893837 single base substitution C T downstream_gene_variant PBCA-DE 12 109893837 109893837 single base substitution C T intron_variant PRAD-CA 12 109882814 109882814 single base substitution A G downstream_gene_variant PRAD-CA 12 109884791 109884791 single base substitution C T downstream_gene_variant PRAD-CA 12 109887436 109887436 single base substitution C T 3_prime_UTR_variant PRAD-CA 12 109887436 109887436 single base substitution C T downstream_gene_variant PRAD-CA 12 109888338 109888338 single base substitution G C 3_prime_UTR_variant PRAD-CA 12 109888338 109888338 single base substitution G C downstream_gene_variant PRAD-CA 12 109888338 109888338 single base substitution G C exon_variant PRAD-CA 12 109891238 109891238 single base substitution A G downstream_gene_variant PRAD-CA 12 109891238 109891238 single base substitution A G intron_variant PRAD-CA 12 109902645 109902645 single base substitution C G downstream_gene_variant PRAD-CA 12 109902645 109902645 single base substitution C G exon_variant PRAD-CA 12 109902645 109902645 single base substitution C G intron_variant PRAD-CA 12 109902645 109902645 single base substitution C G upstream_gene_variant PRAD-CA 12 109907308 109907308 single base substitution G C exon_variant PRAD-CA 12 109907308 109907308 single base substitution G C intron_variant PRAD-CA 12 109907308 109907308 single base substitution G C upstream_gene_variant PRAD-CA 12 109909011 109909011 single base substitution A G exon_variant PRAD-CA 12 109909011 109909011 single base substitution A G intron_variant PRAD-CA 12 109909011 109909011 single base substitution A G upstream_gene_variant PRAD-CA 12 109909514 109909514 single base substitution G C intron_variant PRAD-CA 12 109909514 109909514 single base substitution G C upstream_gene_variant PRAD-CA 12 109912332 109912332 single base substitution C T intron_variant PRAD-CA 12 109912332 109912332 single base substitution C T upstream_gene_variant PRAD-CA 12 109915070 109915070 single base substitution A G 5_prime_UTR_variant PRAD-CA 12 109915070 109915070 single base substitution A G exon_variant PRAD-CA 12 109918867 109918867 single base substitution G A upstream_gene_variant PRAD-CA 12 109920071 109920071 single base substitution G T upstream_gene_variant PRAD-UK 12 109893873 109893873 single base substitution G C downstream_gene_variant PRAD-UK 12 109893873 109893873 single base substitution G C intron_variant PRAD-UK 12 109900489 109900526 deletion of <=200bp GCCAAGAGTGGCCAGGCAGGAATGTGGGCCCAAGAGCT - intron_variant PRAD-UK 12 109900489 109900526 deletion of <=200bp GCCAAGAGTGGCCAGGCAGGAATGTGGGCCCAAGAGCT - upstream_gene_variant PRAD-US 12 109894046 109894046 single base substitution G C 3_prime_UTR_variant PRAD-US 12 109894046 109894046 single base substitution G C downstream_gene_variant PRAD-US 12 109894046 109894046 single base substitution G C exon_variant PRAD-US 12 109894046 109894046 single base substitution G C synonymous_variant V174V 522C>G PRAD-US 12 109894046 109894046 single base substitution G C synonymous_variant V19V 57C>G PRAD-US 12 109894046 109894046 single base substitution G C synonymous_variant V200V 600C>G PRAD-US 12 109898479 109898479 single base substitution C G 3_prime_UTR_variant PRAD-US 12 109898479 109898479 single base substitution C G exon_variant PRAD-US 12 109898479 109898479 single base substitution C G intron_variant PRAD-US 12 109898479 109898479 single base substitution C G missense_variant V114L 340G>C PRAD-US 12 109898479 109898479 single base substitution C G missense_variant V117L 349G>C PRAD-US 12 109898479 109898479 single base substitution C G upstream_gene_variant RECA-EU 12 109889843 109889843 single base substitution G A downstream_gene_variant RECA-EU 12 109889843 109889843 single base substitution G A intron_variant RECA-EU 12 109890645 109890645 single base substitution C T downstream_gene_variant RECA-EU 12 109890645 109890645 single base substitution C T intron_variant RECA-EU 12 109907239 109907239 single base substitution C T exon_variant RECA-EU 12 109907239 109907239 single base substitution C T intron_variant RECA-EU 12 109907239 109907239 single base substitution C T upstream_gene_variant RECA-EU 12 109911333 109911333 single base substitution G A intron_variant RECA-EU 12 109911333 109911333 single base substitution G A upstream_gene_variant RECA-EU 12 109912631 109912631 single base substitution G C intron_variant RECA-EU 12 109912959 109912959 single base substitution C G intron_variant SKCA-BR 12 109884932 109884932 single base substitution G A downstream_gene_variant SKCA-BR 12 109884933 109884933 single base substitution G A downstream_gene_variant SKCA-BR 12 109890736 109890736 single base substitution G A downstream_gene_variant SKCA-BR 12 109890736 109890736 single base substitution G A intron_variant SKCA-BR 12 109893888 109893888 single base substitution A C downstream_gene_variant SKCA-BR 12 109893888 109893888 single base substitution A C intron_variant SKCA-BR 12 109894961 109894961 single base substitution G A downstream_gene_variant SKCA-BR 12 109894961 109894961 single base substitution G A exon_variant SKCA-BR 12 109894961 109894961 single base substitution G A intron_variant SKCA-BR 12 109904835 109904835 single base substitution G A downstream_gene_variant SKCA-BR 12 109904835 109904835 single base substitution G A intron_variant SKCA-BR 12 109904835 109904835 single base substitution G A upstream_gene_variant SKCA-BR 12 109906792 109906792 single base substitution G A downstream_gene_variant SKCA-BR 12 109906792 109906792 single base substitution G A intron_variant SKCA-BR 12 109906792 109906792 single base substitution G A upstream_gene_variant SKCA-BR 12 109906890 109906890 single base substitution C A exon_variant SKCA-BR 12 109906890 109906890 single base substitution C A intron_variant SKCA-BR 12 109906890 109906890 single base substitution C A upstream_gene_variant SKCA-BR 12 109909514 109909514 single base substitution G C intron_variant SKCA-BR 12 109909514 109909514 single base substitution G C upstream_gene_variant SKCA-BR 12 109910499 109910499 single base substitution C T intron_variant SKCA-BR 12 109910499 109910499 single base substitution C T upstream_gene_variant SKCA-BR 12 109914577 109914577 single base substitution T C intron_variant SKCA-BR 12 109914869 109914869 single base substitution A C intron_variant SKCA-BR 12 109917994 109917994 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 12 109919621 109919621 single base substitution G A upstream_gene_variant SKCM-US 12 109882024 109882024 single base substitution C G downstream_gene_variant SKCM-US 12 109895484 109895484 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109895484 109895484 single base substitution C T 5_prime_UTR_variant SKCM-US 12 109895484 109895484 single base substitution C T downstream_gene_variant SKCM-US 12 109895484 109895484 single base substitution C T exon_variant SKCM-US 12 109895484 109895484 single base substitution C T missense_variant A131T 391G>A SKCM-US 12 109895484 109895484 single base substitution C T missense_variant A150T 448G>A SKCM-US 12 109895484 109895484 single base substitution C T missense_variant A157T 469G>A SKCM-US 12 109895484 109895484 single base substitution C T missense_variant A160T 478G>A SKCM-US 12 109907543 109907543 single base substitution G A 3_prime_UTR_variant SKCM-US 12 109907543 109907543 single base substitution G A intron_variant SKCM-US 12 109907543 109907543 single base substitution G A upstream_gene_variant STAD-US 12 109889420 109889420 single base substitution G A 3_prime_UTR_variant STAD-US 12 109889420 109889420 single base substitution G A downstream_gene_variant STAD-US 12 109889420 109889420 single base substitution G A exon_variant STAD-US 12 109889420 109889420 single base substitution G A missense_variant R127W 379C>T STAD-US 12 109889420 109889420 single base substitution G A missense_variant R282W 844C>T STAD-US 12 109889420 109889420 single base substitution G A missense_variant R308W 922C>T STAD-US 12 109889456 109889456 single base substitution G A 3_prime_UTR_variant STAD-US 12 109889456 109889456 single base substitution G A downstream_gene_variant STAD-US 12 109889456 109889456 single base substitution G A exon_variant STAD-US 12 109889456 109889456 single base substitution G A missense_variant R115C 343C>T STAD-US 12 109889456 109889456 single base substitution G A missense_variant R270C 808C>T STAD-US 12 109889456 109889456 single base substitution G A missense_variant R296C 886C>T STAD-US 12 109889523 109889523 single base substitution C A 3_prime_UTR_variant STAD-US 12 109889523 109889523 single base substitution C A downstream_gene_variant STAD-US 12 109889523 109889523 single base substitution C A exon_variant STAD-US 12 109889523 109889523 single base substitution C A missense_variant E247D 741G>T STAD-US 12 109889523 109889523 single base substitution C A missense_variant E273D 819G>T STAD-US 12 109889523 109889523 single base substitution C A missense_variant E92D 276G>T STAD-US 12 109889532 109889532 single base substitution C T 3_prime_UTR_variant STAD-US 12 109889532 109889532 single base substitution C T downstream_gene_variant STAD-US 12 109889532 109889532 single base substitution C T exon_variant STAD-US 12 109889532 109889532 single base substitution C T synonymous_variant A244A 732G>A STAD-US 12 109889532 109889532 single base substitution C T synonymous_variant A270A 810G>A STAD-US 12 109889532 109889532 single base substitution C T synonymous_variant A89A 267G>A STAD-US 12 109889606 109889606 single base substitution C T 3_prime_UTR_variant STAD-US 12 109889606 109889606 single base substitution C T downstream_gene_variant STAD-US 12 109889606 109889606 single base substitution C T exon_variant STAD-US 12 109889606 109889606 single base substitution C T missense_variant E220K 658G>A STAD-US 12 109889606 109889606 single base substitution C T missense_variant E246K 736G>A STAD-US 12 109889606 109889606 single base substitution C T missense_variant E65K 193G>A STAD-US 12 109889615 109889615 single base substitution C T 3_prime_UTR_variant STAD-US 12 109889615 109889615 single base substitution C T downstream_gene_variant STAD-US 12 109889615 109889615 single base substitution C T exon_variant STAD-US 12 109889615 109889615 single base substitution C T missense_variant E217K 649G>A STAD-US 12 109889615 109889615 single base substitution C T missense_variant E243K 727G>A STAD-US 12 109889615 109889615 single base substitution C T missense_variant E62K 184G>A STAD-US 12 109894111 109894111 single base substitution C T 3_prime_UTR_variant STAD-US 12 109894111 109894111 single base substitution C T 5_prime_UTR_variant STAD-US 12 109894111 109894111 single base substitution C T downstream_gene_variant STAD-US 12 109894111 109894111 single base substitution C T exon_variant STAD-US 12 109894111 109894111 single base substitution C T intron_variant STAD-US 12 109894111 109894111 single base substitution C T missense_variant D150N 448G>A STAD-US 12 109894111 109894111 single base substitution C T missense_variant D169N 505G>A STAD-US 12 109894111 109894111 single base substitution C T missense_variant D179N 535G>A STAD-US 12 109895795 109895795 single base substitution A G downstream_gene_variant STAD-US 12 109895795 109895795 single base substitution A G exon_variant STAD-US 12 109895795 109895795 single base substitution A G intron_variant STAD-US 12 109895795 109895795 single base substitution A G splice_donor_variant STAD-US 12 109895795 109895795 single base substitution A G upstream_gene_variant STAD-US 12 109898545 109898545 single base substitution C T 3_prime_UTR_variant STAD-US 12 109898545 109898545 single base substitution C T exon_variant STAD-US 12 109898545 109898545 single base substitution C T intron_variant STAD-US 12 109898545 109898545 single base substitution C T missense_variant A92T 274G>A STAD-US 12 109898545 109898545 single base substitution C T missense_variant A95T 283G>A STAD-US 12 109898545 109898545 single base substitution C T upstream_gene_variant STAD-US 12 109898554 109898554 single base substitution G C 3_prime_UTR_variant STAD-US 12 109898554 109898554 single base substitution G C exon_variant STAD-US 12 109898554 109898554 single base substitution G C intron_variant STAD-US 12 109898554 109898554 single base substitution G C missense_variant R89G 265C>G STAD-US 12 109898554 109898554 single base substitution G C missense_variant R92G 274C>G STAD-US 12 109898554 109898554 single base substitution G C upstream_gene_variant STAD-US 12 109907348 109907348 insertion of <=200bp - C 3_prime_UTR_variant STAD-US 12 109907348 109907348 insertion of <=200bp - C 5_prime_UTR_variant STAD-US 12 109907348 109907348 insertion of <=200bp - C exon_variant STAD-US 12 109907348 109907348 insertion of <=200bp - C frameshift_variant G60G? STAD-US 12 109907348 109907348 insertion of <=200bp - C frameshift_variant G63G? STAD-US 12 109907348 109907348 insertion of <=200bp - C intron_variant STAD-US 12 109907348 109907348 insertion of <=200bp - C upstream_gene_variant UCEC-US 12 109882290 109882290 single base substitution C T downstream_gene_variant UCEC-US 12 109889345 109889345 single base substitution T C 3_prime_UTR_variant UCEC-US 12 109889345 109889345 single base substitution T C downstream_gene_variant UCEC-US 12 109889345 109889345 single base substitution T C exon_variant UCEC-US 12 109889450 109889450 single base substitution G A 3_prime_UTR_variant UCEC-US 12 109889450 109889450 single base substitution G A downstream_gene_variant UCEC-US 12 109889450 109889450 single base substitution G A exon_variant UCEC-US 12 109889450 109889450 single base substitution G A missense_variant R117W 349C>T UCEC-US 12 109889450 109889450 single base substitution G A missense_variant R272W 814C>T UCEC-US 12 109889450 109889450 single base substitution G A missense_variant R298W 892C>T UCEC-US 12 109889536 109889536 single base substitution T C 3_prime_UTR_variant UCEC-US 12 109889536 109889536 single base substitution T C downstream_gene_variant UCEC-US 12 109889536 109889536 single base substitution T C exon_variant UCEC-US 12 109889536 109889536 single base substitution T C missense_variant N243S 728A>G UCEC-US 12 109889536 109889536 single base substitution T C missense_variant N269S 806A>G UCEC-US 12 109889536 109889536 single base substitution T C missense_variant N88S 263A>G UCEC-US 12 109894034 109894034 single base substitution C A 3_prime_UTR_variant UCEC-US 12 109894034 109894034 single base substitution C A downstream_gene_variant UCEC-US 12 109894034 109894034 single base substitution C A exon_variant UCEC-US 12 109894034 109894034 single base substitution C A missense_variant K178N 534G>T UCEC-US 12 109894034 109894034 single base substitution C A missense_variant K204N 612G>T UCEC-US 12 109894034 109894034 single base substitution C A missense_variant K23N 69G>T UCEC-US 12 109895865 109895865 single base substitution G A 3_prime_UTR_variant UCEC-US 12 109895865 109895865 single base substitution G A 5_prime_UTR_variant UCEC-US 12 109895865 109895865 single base substitution G A downstream_gene_variant UCEC-US 12 109895865 109895865 single base substitution G A exon_variant UCEC-US 12 109895865 109895865 single base substitution G A intron_variant UCEC-US 12 109895865 109895865 single base substitution G A missense_variant P133S 397C>T UCEC-US 12 109895865 109895865 single base substitution G A missense_variant P136S 406C>T UCEC-US 12 109895865 109895865 single base substitution G A upstream_gene_variant UCEC-US 12 109898568 109898568 single base substitution A G 3_prime_UTR_variant UCEC-US 12 109898568 109898568 single base substitution A G exon_variant UCEC-US 12 109898568 109898568 single base substitution A G intron_variant UCEC-US 12 109898568 109898568 single base substitution A G missense_variant I84T 251T>C UCEC-US 12 109898568 109898568 single base substitution A G missense_variant I87T 260T>C UCEC-US 12 109898568 109898568 single base substitution A G upstream_gene_variant UCEC-US 12 109898592 109898592 single base substitution C T 3_prime_UTR_variant UCEC-US 12 109898592 109898592 single base substitution C T exon_variant UCEC-US 12 109898592 109898592 single base substitution C T intron_variant UCEC-US 12 109898592 109898592 single base substitution C T missense_variant R76H 227G>A UCEC-US 12 109898592 109898592 single base substitution C T missense_variant R79H 236G>A UCEC-US 12 109898592 109898592 single base substitution C T upstream_gene_variant UCEC-US 12 109907437 109907437 single base substitution C T 3_prime_UTR_variant UCEC-US 12 109907437 109907437 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 109907437 109907437 single base substitution C T exon_variant UCEC-US 12 109907437 109907437 single base substitution C T intron_variant UCEC-US 12 109907437 109907437 single base substitution C T missense_variant V31M 91G>A UCEC-US 12 109907437 109907437 single base substitution C T missense_variant V34M 100G>A UCEC-US 12 109907437 109907437 single base substitution C T upstream_gene_variant UCEC-US 12 109907527 109907527 single base substitution T G 3_prime_UTR_variant UCEC-US 12 109907527 109907527 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 109907527 109907527 single base substitution T G exon_variant UCEC-US 12 109907527 109907527 single base substitution T G initiator_codon_variant M1L 1A>C UCEC-US 12 109907527 109907527 single base substitution T G intron_variant UCEC-US 12 109907527 109907527 single base substitution T G missense_variant M4L 10A>C UCEC-US 12 109907527 109907527 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8031704 COSM3384014 c.742C>T p.R248W Substitution - Missense 12:109451795-109451795 - TCGA-CG-5721-01 COSM4038547 c.274C>G p.R92G Substitution - Missense 12:109460749-109460749 - T578 COSM275656 c.274C>T p.R92* Substitution - Nonsense 12:109460749-109460749 - TCGA-AP-A051-01 COSM934814 c.260T>C p.I87T Substitution - Missense 12:109460763-109460763 - YUKAT COSM5374124 c.394G>A p.D132N Substitution - Missense 12:109458072-109458072 - SS6003320 COSM4127512 c.304C>T p.R102C Substitution - Missense 12:109460719-109460719 - TCGA-BR-4184-01 COSM4038546 c.283G>A p.A95T Substitution - Missense 12:109460740-109460740 - TCGA-21-1081-01 COSM691321 c.536A>G p.D179G Substitution - Missense 12:109456305-109456305 - TCGA-B0-4817-01 COSM3359527 c.34T>A p.S12T Substitution - Missense 12:109469698-109469698 - TCGA-HU-A4H3-01 COSM1946500 c.810G>A p.A270A Substitution - coding silent 12:109451727-109451727 - TCGA-BR-4362-01 COSM1743609 c.922C>T p.R308W Substitution - Missense 12:109451615-109451615 - YUSIV COSM5374118 c.882C>T p.I294I Substitution - coding silent 12:109451655-109451655 - PD13416a COSM5799641 c.128A>T p.Y43F Substitution - Missense 12:109469604-109469604 - 193 COSM1741784 c.673G>A p.E225K Substitution - Missense 12:109456168-109456168 - RK155_C01 COSM3700199 c.657G>A p.Q219Q Substitution - coding silent 12:109456184-109456184 - Pat_26_A COSM4038535 c.886C>T p.R296C Substitution - Missense 12:109451651-109451651 - 61 COSM5739791 c.896G>T p.R299M Substitution - Missense 12:109451641-109451641 - TCGA-A6-6654-01 COSM1358617 c.315C>T p.I105I Substitution - coding silent 12:109460708-109460708 - TCGA-D8-A1JN-01 COSM1476109 c.727G>A p.E243K Substitution - Missense 12:109451810-109451810 - 587342 COSM1211677 c.506A>T p.N169I Substitution - Missense 12:109457651-109457651 - STC263 COSM5051311 c.811C>T p.L271F Substitution - Missense 12:109451726-109451726 - ESO-0292 COSM1241334 c.833C>T p.A278V Substitution - Missense 12:109451704-109451704 - TCGA-AA-A00N-01 COSM275656 c.274C>T p.R92* Substitution - Nonsense 12:109460749-109460749 - TCGA-CD-5798-01 COSM1476109 c.727G>A p.E243K Substitution - Missense 12:109451810-109451810 - 134398 COSM325595 c.28G>A p.V10M Substitution - Missense 12:109469704-109469704 - TCGA-Q1-A73O-01 COSM4835334 c.706G>A p.E236K Substitution - Missense 12:109456135-109456135 - TCGA-DG-A2KK-01 COSM1946510 c.264C>T p.L88L Substitution - coding silent 12:109460759-109460759 - TCGA-ER-A19S-06 COSM1946506 c.478G>A p.A160T Substitution - Missense 12:109457679-109457679 - TCGA-CD-A4MI-01 COSM4038540 c.736G>A p.E246K Substitution - Missense 12:109451801-109451801 - TCGA-EE-A2GC-06 COSM3455853 c.4-10C>T p.? Unknown 12:109469738-109469738 - NB2181 COSM5703119 c.592G>A p.G198R Substitution - Missense 12:109456249-109456249 - TCGA-D8-A1XK-01 COSM3810945 c.374A>G p.Q125R Substitution - Missense 12:109460649-109460649 - TCGA-EJ-A65G-01 COSM4879434 c.600C>G p.V200V Substitution - coding silent 12:109456241-109456241 - ESCC_BICR_022T COSM5443015 c.481G>A p.V161M Substitution - Missense 12:109457676-109457676 - TCGA-B5-A0JZ-01 COSM934816 c.100G>A p.V34M Substitution - Missense 12:109469632-109469632 - TCGA-32-4719-01 COSM2157437 c.887G>A p.R296H Substitution - Missense 12:109451650-109451650 - OSCC-GB_01040111 COSM3810943 c.751G>A p.E251K Substitution - Missense 12:109451786-109451786 - T3080 COSM4694782 c.49G>A p.A17T Substitution - Missense 12:109469683-109469683 - TCGA-G7-A4TM-01 COSM3986611 c.892C>A p.R298R Substitution - coding silent 12:109451645-109451645 - QC2-42-T2 COSM5656245 c.29T>G p.V10G Substitution - Missense 12:109469703-109469703 - TCGA-A6-2686-01 COSM5084398 c.872G>A p.R291Q Substitution - Missense 12:109451665-109451665 - TCGA-AA-3510-01 COSM691320 c.467C>A p.S156* Substitution - Nonsense 12:109457999-109457999 - TCGA-06-0237 COSM2151054 c.5_6delAA p.E2fs*70 Deletion - Frameshift 12:109469726-109469727 - TCGA-B6-A0WS-01 COSM430299 c.512A>C p.K171T Substitution - Missense 12:109457645-109457645 - TCGA-G4-6306-01 COSM5176067 c.474+10A>G p.? Unknown 12:109457982-109457982 - T3262 COSM4694780 c.795G>A p.R265R Substitution - coding silent 12:109451742-109451742 - ESCC-112T COSM3935726 c.871C>T p.R291W Substitution - Missense 12:109451666-109451666 - TCGA-AC-A3W6-01 COSM3810943 c.751G>A p.E251K Substitution - Missense 12:109451786-109451786 - TCGA-AP-A059-01 COSM934812 c.612G>T p.K204N Substitution - Missense 12:109456229-109456229 - TCGA-AD-5900-01 COSM5128470 c.705T>C p.T235T Substitution - coding silent 12:109456136-109456136 - PT37 COSM1255460 c.58C>T p.R20C Substitution - Missense 12:109469674-109469674 - CHOL14 COSM1743609 c.922C>T p.R308W Substitution - Missense 12:109451615-109451615 - ESO-S41 COSM1255460 c.58C>T p.R20C Substitution - Missense 12:109469674-109469674 - MOLT-4 COSM312231 c.284C>T p.A95V Substitution - Missense 12:109460739-109460739 - T3225 COSM4694778 c.893G>A p.R298Q Substitution - Missense 12:109451644-109451644 - BD72T COSM5512931 c.515A>G p.Y172C Substitution - Missense 12:109457642-109457642 - TCGA-CJ-6027-01 COSM467759 c.85C>A p.P29T Substitution - Missense 12:109469647-109469647 - YUPAER COSM5374120 c.733C>T p.P245S Substitution - Missense 12:109451804-109451804 - TCGA-BR-4362-01 COSM4038535 c.886C>T p.R296C Substitution - Missense 12:109451651-109451651 - LOVO COSM1946500 c.810G>A p.A270A Substitution - coding silent 12:109451727-109451727 - TCGA-D1-A17Q-01 COSM934815 c.236G>A p.R79H Substitution - Missense 12:109460787-109460787 - OSCC-GB_01290111 COSM5955328 c.754G>A p.E252K Substitution - Missense 12:109451783-109451783 - S00936 COSM312231 c.284C>T p.A95V Substitution - Missense 12:109460739-109460739 - TCGA-FP-A4BE-01 COSM4038537 c.819G>T p.E273D Substitution - Missense 12:109451718-109451718 - TCGA-BR-4361-01 COSM4038543 c.535G>A p.D179N Substitution - Missense 12:109456306-109456306 - YUFIT COSM5374122 c.696C>T p.V232V Substitution - coding silent 12:109456145-109456145 - TCGA-AP-A0LM-01 COSM934810 c.892C>T p.R298W Substitution - Missense 12:109451645-109451645 - TCGA-HT-8564-01 COSM3967971 c.889G>A p.V297M Substitution - Missense 12:109451648-109451648 - CSCC-31-T COSM4507262 c.741C>T p.A247A Substitution - coding silent 12:109451796-109451796 - 2492730 COSM5729011 c.76G>A p.G26S Substitution - Missense 12:109469656-109469656 - TCGA-HU-8602-01 COSM4038545 c.474+2T>C p.? Unknown 12:109457990-109457990 - CSCC-4-T COSM4557861 c.744G>A p.R248R Substitution - coding silent 12:109451793-109451793 - PCSI_0529_Pa_P_526 COSM5761245 c.81G>A p.T27T Substitution - coding silent 12:109469651-109469651 - TCGA-AP-A056-01 COSM934817 c.10A>C p.M4L Substitution - Missense 12:109469722-109469722 - VCB-PH-12T COSM4770713 c.695T>C p.V232A Substitution - Missense 12:109456146-109456146 - TCGA-EJ-5519-01 COSM1127578 c.349G>C p.V117L Substitution - Missense 12:109460674-109460674 - TCGA-A5-A0GQ-01 COSM934811 c.806A>G p.N269S Substitution - Missense 12:109451731-109451731 - TCGA-B5-A11E-01 COSM934813 c.406C>T p.P136S Substitution - Missense 12:109458060-109458060 - TCGA-32-4719 COSM2157437 c.887G>A p.R296H Substitution - Missense 12:109451650-109451650 - TCGA-22-1011-01 COSM691320 c.467C>A p.S156* Substitution - Nonsense 12:109457999-109457999 - TCGA-AA-A00N-01 COSM275655 c.462G>A p.A154A Substitution - coding silent 12:109458004-109458004 - 1 COSM5015155 c.196G>C p.E66Q Substitution - Missense 12:109469536-109469536 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524731 12q24.11 613421 2479711|CGAP|BC040062|C/T|non-coding||3768|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.S12T c.34T>A 12 109907503 RCCC C A Missense p.Q239H c.717G>T 12 109893929 HNSC C G Missense p.V117L c.349G>C 12 109898479 PRAD C T IntronicSNV . c.387+32G>A 12 109898409 CM C T Missense p.A160T c.478G>A 12 109895484 CM C T Missense p.E243K c.727G>A 12 109889615 BRCA C T Missense p.E243K c.727G>A 12 109889615 STAD C T Missense p.E292K c.874G>A 12 109889468 CM C T Missense p.R296H c.887G>A 12 109889455 GBM C T Missense p.V10M c.28G>A 12 109907509 SCLC C T Missense p.V34M c.100G>A 12 109907437 UCEC G A 3-UTRSNV . c.939+47C>T 12 109889356 CM G A 3-UTRSNV . c.939+63C>T 12 109889340 CM G A Missense p.A95V c.284C>T 12 109898544 SCLC G A Missense p.R20C c.58C>T 12 109907479 ESCA G C 3-UTRSNV . c.939+31C>G 12 109889372 RCCC G C Synonymous p.V200V c.600C>G 12 109894046 PRAD GG AA IntronicBlockSubstitution . c.388-31_388-30delinsTT 12 109895913 CM G T Nonsense p.S156* c.467C>A 12 109895804 LUSC T C 3-UTRSNV . c.939+58A>G 12 109889345 UCEC T C 5-UTRSNV . c.1-122A>G 12 109915189 CM T C Missense p.D179G c.536A>G 12 109894110 LUSC T C Missense p.N269S c.806A>G 12 109889536 UCEC T G Missense p.K171T c.512A>C 12 109895450 BRCA