Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 7 95157438 95157438 + Silent SNP C C G TCGA-OR-A5J4-01A-11D-A29I-10 TCGA-OR-A5J4-10A-01D-A29L-10 g.chr7:95157438C>G c.801C>G c.(799-801)ctC>ctG p.L267L BLCA 7 95115344 95115344 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:95115344T>G c.61T>G c.(61-63)Ttc>Gtc p.F21V BLCA 7 95125268 95125268 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 g.chr7:95125268G>A c.386G>A c.(385-387)cGt>cAt p.R129H BLCA 7 95125301 95125301 + Missense_Mutation SNP G G A TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr7:95125301G>A c.419G>A c.(418-420)gGa>gAa p.G140E BLCA 7 95157284 95157284 + Missense_Mutation SNP C C T TCGA-FJ-A871-01A-11D-A34U-08 TCGA-FJ-A871-10A-01D-A34X-08 g.chr7:95157284C>T c.647C>T c.(646-648)gCc>gTc p.A216V BLCA 7 95157438 95157438 + Silent SNP C C T TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 g.chr7:95157438C>T c.801C>T c.(799-801)ctC>ctT p.L267L BLCA 7 95165776 95165776 + Missense_Mutation SNP A A G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:95165776A>G c.1006A>G c.(1006-1008)Aaa>Gaa p.K336E BLCA 7 95165794 95165794 + Missense_Mutation SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr7:95165794G>A c.1024G>A c.(1024-1026)Gtc>Atc p.V342I BLCA 7 95165854 95165854 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 g.chr7:95165854G>A c.1084G>A c.(1084-1086)Gac>Aac p.D362N BRCA 7 95115434 95115434 + Missense_Mutation SNP G G C TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr7:95115434G>C c.151G>C c.(151-153)Gaa>Caa p.E51Q BRCA 7 95157289 95157289 + Missense_Mutation SNP T T C TCGA-JL-A3YW-01A-12D-A23C-09 TCGA-JL-A3YW-10B-01D-A23C-09 g.chr7:95157289T>C c.652T>C c.(652-654)Tgg>Cgg p.W218R CESC 7 95157138 95157138 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr7:95157138C>T c.501C>T c.(499-501)aaC>aaT p.N167N CESC 7 95157220 95157220 + Missense_Mutation SNP G G A TCGA-C5-A1MF-01A-11D-A13W-08 TCGA-C5-A1MF-10A-01D-A13W-08 g.chr7:95157220G>A c.583G>A c.(583-585)Gtg>Atg p.V195M COAD 7 95125290 95125290 + Silent SNP C C T TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr7:95125290C>T c.408C>T c.(406-408)taC>taT p.Y136Y COAD 7 95125353 95125353 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:95125353G>A c.471G>A c.(469-471)aaG>aaA p.K157K COAD 7 95157168 95157168 + Silent SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr7:95157168G>A c.531G>A c.(529-531)acG>acA p.T177T COAD 7 95157550 95157550 + Missense_Mutation SNP G G C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr7:95157550G>C c.913G>C c.(913-915)Gag>Cag p.E305Q COAD 7 95165851 95165851 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:95165851G>T c.1081G>T c.(1081-1083)Gat>Tat p.D361Y COADREAD 7 95125290 95125290 + Silent SNP C C T TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr7:95125290C>T c.408C>T c.(406-408)taC>taT p.Y136Y COADREAD 7 95125342 95125342 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:95125342C>A c.460C>A c.(460-462)Ctc>Atc p.L154I COADREAD 7 95125353 95125353 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:95125353G>A c.471G>A c.(469-471)aaG>aaA p.K157K COADREAD 7 95157168 95157168 + Silent SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr7:95157168G>A c.531G>A c.(529-531)acG>acA p.T177T COADREAD 7 95157550 95157550 + Missense_Mutation SNP G G C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr7:95157550G>C c.913G>C c.(913-915)Gag>Cag p.E305Q COADREAD 7 95165851 95165851 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:95165851G>T c.1081G>T c.(1081-1083)Gat>Tat p.D361Y GBM 7 95115358 95115358 + Silent SNP A A G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 g.chr7:95115358A>G c.75A>G c.(73-75)ctA>ctG p.L25L GBMLGG 7 95115358 95115358 + Silent SNP A A G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 g.chr7:95115358A>G c.75A>G c.(73-75)ctA>ctG p.L25L GBMLGG 7 95165776 95165776 + Missense_Mutation SNP A A G TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr7:95165776A>G c.1006A>G c.(1006-1008)Aaa>Gaa p.K336E HNSC 7 95115461 95115461 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:95115461T>C c.178T>C c.(178-180)Tat>Cat p.Y60H HNSC 7 95125141 95125141 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 g.chr7:95125141C>T c.259C>T c.(259-261)Cat>Tat p.H87Y HNSC 7 95157168 95157168 + Silent SNP G G A TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr7:95157168G>A c.531G>A c.(529-531)acG>acA p.T177T HNSC 7 95157420 95157420 + Missense_Mutation SNP G G C TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr7:95157420G>C c.783G>C c.(781-783)tgG>tgC p.W261C HNSC 7 95157454 95157454 + Missense_Mutation SNP G G C TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr7:95157454G>C c.817G>C c.(817-819)Gaa>Caa p.E273Q HNSC 7 95157465 95157465 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr7:95157465C>A c.828C>A c.(826-828)gcC>gcA p.A276A HNSC 7 95157520 95157520 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr7:95157520G>C c.883G>C c.(883-885)Gtc>Ctc p.V295L HNSC 7 95157581 95157581 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr7:95157581G>A c.944G>A c.(943-945)gGg>gAg p.G315E HNSC 7 95166913 95166913 + Missense_Mutation SNP A A T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 g.chr7:95166913A>T c.1123A>T c.(1123-1125)Act>Tct p.T375S KICH 7 95166910 95166910 + Missense_Mutation SNP T T C TCGA-KM-8477-01A-11D-2310-10 TCGA-KM-8477-10A-01D-2311-10 g.chr7:95166910T>C c.1120T>C c.(1120-1122)Ttt>Ctt p.F374L KIPAN 7 95125264 95125264 + Missense_Mutation SNP G G A TCGA-GL-6846-01A-11D-1961-08 TCGA-GL-6846-10A-01D-1962-08 g.chr7:95125264G>A c.382G>A c.(382-384)Gat>Aat p.D128N KIPAN 7 95157534 95157534 + Silent SNP C C T TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr7:95157534C>T c.897C>T c.(895-897)cgC>cgT p.R299R KIPAN 7 95166910 95166910 + Missense_Mutation SNP T T C TCGA-KM-8477-01A-11D-2310-10 TCGA-KM-8477-10A-01D-2311-10 g.chr7:95166910T>C c.1120T>C c.(1120-1122)Ttt>Ctt p.F374L KIRC 7 95157534 95157534 + Silent SNP C C T TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr7:95157534C>T c.897C>T c.(895-897)cgC>cgT p.R299R KIRP 7 95125264 95125264 + Missense_Mutation SNP G G A TCGA-GL-6846-01A-11D-1961-08 TCGA-GL-6846-10A-01D-1962-08 g.chr7:95125264G>A c.382G>A c.(382-384)Gat>Aat p.D128N LAML 7 95115472 95115472 + Splice_Site SNP T T G TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 g.chr7:95115472T>G c.e1+2 LGG 7 95165776 95165776 + Missense_Mutation SNP A A G TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr7:95165776A>G c.1006A>G c.(1006-1008)Aaa>Gaa p.K336E LIHC 7 95125087 95125087 + Missense_Mutation SNP T T C TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr7:95125087T>C c.205T>C c.(205-207)Tat>Cat p.Y69H LUAD 7 95115331 95115331 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr7:95115331A>G c.48A>G c.(46-48)ttA>ttG p.L16L LUAD 7 95115357 95115357 + Missense_Mutation SNP T T A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr7:95115357T>A c.74T>A c.(73-75)cTa>cAa p.L25Q LUAD 7 95115440 95115440 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr7:95115440G>A c.157G>A c.(157-159)Gag>Aag p.E53K LUAD 7 95125216 95125216 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr7:95125216C>A c.334C>A c.(334-336)Cac>Aac p.H112N LUAD 7 95125234 95125234 + Missense_Mutation SNP G G T TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr7:95125234G>T c.352G>T c.(352-354)Gcc>Tcc p.A118S LUAD 7 95157271 95157271 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 g.chr7:95157271C>T c.634C>T c.(634-636)Ctg>Ttg p.L212L LUAD 7 95157280 95157280 + Missense_Mutation SNP G G A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr7:95157280G>A c.643G>A c.(643-645)Gcc>Acc p.A215T LUAD 7 95157649 95157649 + Intron SNP A A G TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr7:95157649A>G LUSC 7 95115428 95115428 + Missense_Mutation SNP G G C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr7:95115428G>C c.145G>C c.(145-147)Gaa>Caa p.E49Q LUSC 7 95125305 95125305 + Missense_Mutation SNP C C A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr7:95125305C>A c.423C>A c.(421-423)caC>caA p.H141Q LUSC 7 95157214 95157214 + Missense_Mutation SNP T T A TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr7:95157214T>A c.577T>A c.(577-579)Ttc>Atc p.F193I LUSC 7 95157272 95157272 + Missense_Mutation SNP T T C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr7:95157272T>C c.635T>C c.(634-636)cTg>cCg p.L212P LUSC 7 95166990 95166990 + Nonsense_Mutation SNP C C A TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr7:95166990C>A c.1200C>A c.(1198-1200)tgC>tgA p.C400* LUSC 7 95167000 95167000 + Missense_Mutation SNP A A T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr7:95167000A>T c.1210A>T c.(1210-1212)Att>Ttt p.I404F LUSC 7 95167003 95167003 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:95167003C>T c.1213C>T c.(1213-1215)Cct>Tct p.P405S OV 7 95115411 95115411 + Missense_Mutation SNP A A G TCGA-61-2614-01A-01W-1092-09 TCGA-61-2614-10A-01W-1092-09 g.chr7:95115411A>G c.128A>G c.(127-129)gAt>gGt p.D43G PAAD 7 95157228 95157228 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:95157228C>T c.591C>T c.(589-591)caC>caT p.H197H PAAD 7 95157465 95157465 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:95157465C>T c.828C>T c.(826-828)gcC>gcT p.A276A PRAD 7 95157409 95157409 + Missense_Mutation SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 g.chr7:95157409A>G c.772A>G c.(772-774)Aag>Gag p.K258E PRAD 7 95167003 95167003 + Missense_Mutation SNP C C T TCGA-ZG-A9L2-01A-31D-A41K-08 TCGA-ZG-A9L2-10A-01D-A41N-08 g.chr7:95167003C>T c.1213C>T c.(1213-1215)Cct>Tct p.P405S READ 7 95125342 95125342 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:95125342C>A c.460C>A c.(460-462)Ctc>Atc p.L154I SKCM 7 95115312 95115312 + Missense_Mutation SNP A A T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr7:95115312A>T c.29A>T c.(28-30)aAa>aTa p.K10I SKCM 7 95115410 95115410 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr7:95115410G>A c.127G>A c.(127-129)Gat>Aat p.D43N SKCM 7 95115433 95115433 + Silent SNP C C T TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr7:95115433C>T c.150C>T c.(148-150)gtC>gtT p.V50V SKCM 7 95157127 95157127 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr7:95157127G>A c.490G>A c.(490-492)Gcg>Acg p.A164T SKCM 7 95157196 95157196 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:95157196C>T c.559C>T c.(559-561)Ctt>Ttt p.L187F SKCM 7 95157616 95157616 + Splice_Site SNP G G A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr7:95157616G>A c.e3+1 SKCM 7 95167003 95167003 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr7:95167003C>T c.1213C>T c.(1213-1215)Cct>Tct p.P405S SKCM 7 95167013 95167013 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr7:95167013C>T c.1223C>T c.(1222-1224)tCc>tTc p.S408F SKCM 7 95167013 95167013 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr7:95167013C>T c.1223C>T c.(1222-1224)tCc>tTc p.S408F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 7 95125191 95125191 single base substitution T C exon_variant ALL-US 7 95125191 95125191 single base substitution T C synonymous_variant C103C 309T>C AML-US 7 95157364 95157364 single base substitution G A missense_variant A243T 727G>A BLCA-CN 7 95166940 95166940 single base substitution C T missense_variant L384F 1150C>T BLCA-US 7 95125268 95125268 single base substitution G A exon_variant BLCA-US 7 95125268 95125268 single base substitution G A missense_variant R129H 386G>A BLCA-US 7 95157438 95157438 single base substitution C T synonymous_variant L267L 801C>T BLCA-US 7 95165794 95165794 single base substitution G A missense_variant V342I 1024G>A BLCA-US 7 95165854 95165854 single base substitution G A missense_variant D362N 1084G>A BRCA-EU 7 95102893 95102893 deletion of <=200bp C - upstream_gene_variant BRCA-EU 7 95103115 95103115 single base substitution G C upstream_gene_variant BRCA-EU 7 95107552 95107552 single base substitution A T upstream_gene_variant BRCA-EU 7 95108822 95108822 single base substitution T C intron_variant BRCA-EU 7 95109199 95109199 single base substitution G T intron_variant BRCA-EU 7 95110659 95110659 single base substitution A G intron_variant BRCA-EU 7 95110659 95110659 single base substitution A G upstream_gene_variant BRCA-EU 7 95110674 95110674 deletion of <=200bp A - intron_variant BRCA-EU 7 95110674 95110674 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 95110738 95110738 single base substitution G A intron_variant BRCA-EU 7 95110738 95110738 single base substitution G A upstream_gene_variant BRCA-EU 7 95110967 95110967 single base substitution T A intron_variant BRCA-EU 7 95110967 95110967 single base substitution T A upstream_gene_variant BRCA-EU 7 95111742 95111742 single base substitution G A intron_variant BRCA-EU 7 95111742 95111742 single base substitution G A upstream_gene_variant BRCA-EU 7 95112583 95112583 single base substitution G C intron_variant BRCA-EU 7 95112583 95112583 single base substitution G C upstream_gene_variant BRCA-EU 7 95112945 95112945 single base substitution G A intron_variant BRCA-EU 7 95112945 95112945 single base substitution G A upstream_gene_variant BRCA-EU 7 95113175 95113175 single base substitution C T intron_variant BRCA-EU 7 95113175 95113175 single base substitution C T upstream_gene_variant BRCA-EU 7 95114894 95114894 single base substitution G A intron_variant BRCA-EU 7 95114894 95114894 single base substitution G A upstream_gene_variant BRCA-EU 7 95115610 95115610 single base substitution C A intron_variant BRCA-EU 7 95116454 95116454 single base substitution A G intron_variant BRCA-EU 7 95116612 95116612 single base substitution T C intron_variant BRCA-EU 7 95116780 95116780 single base substitution A G intron_variant BRCA-EU 7 95118147 95118147 single base substitution T C intron_variant BRCA-EU 7 95118962 95118962 single base substitution C G intron_variant BRCA-EU 7 95119337 95119337 single base substitution C G intron_variant BRCA-EU 7 95120127 95120127 single base substitution C A intron_variant BRCA-EU 7 95120790 95120790 single base substitution C T intron_variant BRCA-EU 7 95124049 95124049 single base substitution T C intron_variant BRCA-EU 7 95124149 95124150 deletion of <=200bp AG - intron_variant BRCA-EU 7 95125240 95125240 single base substitution G C exon_variant BRCA-EU 7 95125240 95125240 single base substitution G C missense_variant V120L 358G>C BRCA-EU 7 95125659 95125659 single base substitution G C downstream_gene_variant BRCA-EU 7 95125659 95125659 single base substitution G C intron_variant BRCA-EU 7 95126984 95126984 single base substitution G A downstream_gene_variant BRCA-EU 7 95126984 95126984 single base substitution G A intron_variant BRCA-EU 7 95127011 95127011 single base substitution C T downstream_gene_variant BRCA-EU 7 95127011 95127011 single base substitution C T intron_variant BRCA-EU 7 95127161 95127161 single base substitution C T downstream_gene_variant BRCA-EU 7 95127161 95127161 single base substitution C T intron_variant BRCA-EU 7 95127980 95127980 single base substitution T A downstream_gene_variant BRCA-EU 7 95127980 95127980 single base substitution T A intron_variant BRCA-EU 7 95128978 95128978 single base substitution A T downstream_gene_variant BRCA-EU 7 95128978 95128978 single base substitution A T intron_variant BRCA-EU 7 95129645 95129645 single base substitution G T downstream_gene_variant BRCA-EU 7 95129645 95129645 single base substitution G T intron_variant BRCA-EU 7 95129942 95129942 single base substitution G T downstream_gene_variant BRCA-EU 7 95129942 95129942 single base substitution G T intron_variant BRCA-EU 7 95132509 95132509 deletion of <=200bp T - intron_variant BRCA-EU 7 95132584 95132584 single base substitution T G intron_variant BRCA-EU 7 95133043 95133043 single base substitution C T intron_variant BRCA-EU 7 95133225 95133229 deletion of <=200bp TGCTT - intron_variant BRCA-EU 7 95135010 95135010 insertion of <=200bp - A intron_variant BRCA-EU 7 95135449 95135449 single base substitution G A intron_variant BRCA-EU 7 95136530 95136530 deletion of <=200bp T - intron_variant BRCA-EU 7 95136761 95136761 single base substitution T G intron_variant BRCA-EU 7 95137259 95137259 deletion of <=200bp G - intron_variant BRCA-EU 7 95138108 95138108 single base substitution G C intron_variant BRCA-EU 7 95139303 95139303 single base substitution T A intron_variant BRCA-EU 7 95139876 95139876 deletion of <=200bp T - intron_variant BRCA-EU 7 95140983 95140983 single base substitution A T intron_variant BRCA-EU 7 95141045 95141045 single base substitution T C intron_variant BRCA-EU 7 95141804 95141804 single base substitution G A intron_variant BRCA-EU 7 95144025 95144025 single base substitution C T intron_variant BRCA-EU 7 95145128 95145128 single base substitution G C intron_variant BRCA-EU 7 95145509 95145509 single base substitution C T intron_variant BRCA-EU 7 95145806 95145806 single base substitution G T intron_variant BRCA-EU 7 95145950 95145950 deletion of <=200bp A - intron_variant BRCA-EU 7 95146630 95146630 single base substitution G A intron_variant BRCA-EU 7 95146716 95146716 single base substitution A G intron_variant BRCA-EU 7 95147614 95147614 single base substitution C T intron_variant BRCA-EU 7 95147860 95147860 single base substitution G C intron_variant BRCA-EU 7 95148210 95148210 single base substitution A T intron_variant BRCA-EU 7 95149060 95149060 deletion of <=200bp T - intron_variant BRCA-EU 7 95150374 95150374 single base substitution G C intron_variant BRCA-EU 7 95150869 95150869 single base substitution C G intron_variant BRCA-EU 7 95151214 95151214 single base substitution A G intron_variant BRCA-EU 7 95152514 95152514 single base substitution G T intron_variant BRCA-EU 7 95152938 95152938 single base substitution G A intron_variant BRCA-EU 7 95154771 95154771 deletion of <=200bp A - intron_variant BRCA-EU 7 95155059 95155059 single base substitution G C intron_variant BRCA-EU 7 95155341 95155341 deletion of <=200bp T - intron_variant BRCA-EU 7 95155341 95155341 insertion of <=200bp - T intron_variant BRCA-EU 7 95156485 95156485 insertion of <=200bp - GT intron_variant BRCA-EU 7 95157254 95157254 single base substitution C A missense_variant A206D 617C>A BRCA-EU 7 95158346 95158346 single base substitution C A downstream_gene_variant BRCA-EU 7 95158346 95158346 single base substitution C A intron_variant BRCA-EU 7 95158909 95158909 single base substitution C G downstream_gene_variant BRCA-EU 7 95158909 95158909 single base substitution C G intron_variant BRCA-EU 7 95159859 95159859 single base substitution A G downstream_gene_variant BRCA-EU 7 95159859 95159859 single base substitution A G intron_variant BRCA-EU 7 95159876 95159876 single base substitution C T downstream_gene_variant BRCA-EU 7 95159876 95159876 single base substitution C T intron_variant BRCA-EU 7 95160754 95160754 single base substitution A G downstream_gene_variant BRCA-EU 7 95160754 95160754 single base substitution A G intron_variant BRCA-EU 7 95160838 95160838 single base substitution G C downstream_gene_variant BRCA-EU 7 95160838 95160838 single base substitution G C intron_variant BRCA-EU 7 95161731 95161731 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 95161731 95161731 insertion of <=200bp - T intron_variant BRCA-EU 7 95162074 95162074 single base substitution G T downstream_gene_variant BRCA-EU 7 95162074 95162074 single base substitution G T intron_variant BRCA-EU 7 95162438 95162438 single base substitution T A downstream_gene_variant BRCA-EU 7 95162438 95162438 single base substitution T A intron_variant BRCA-EU 7 95162523 95162523 single base substitution T C downstream_gene_variant BRCA-EU 7 95162523 95162523 single base substitution T C intron_variant BRCA-EU 7 95162944 95162944 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 95162944 95162944 deletion of <=200bp T - intron_variant BRCA-EU 7 95163530 95163530 single base substitution T G intron_variant BRCA-EU 7 95164148 95164148 single base substitution A G intron_variant BRCA-EU 7 95165768 95165768 single base substitution C G missense_variant S333C 998C>G BRCA-EU 7 95166077 95166077 single base substitution T A intron_variant BRCA-EU 7 95166426 95166426 single base substitution C G intron_variant BRCA-EU 7 95166728 95166728 single base substitution G T intron_variant BRCA-EU 7 95166891 95166891 single base substitution G A stop_gained W367* 1101G>A BRCA-EU 7 95167347 95167347 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 95168234 95168234 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 95168436 95168436 single base substitution A T 3_prime_UTR_variant BRCA-EU 7 95169185 95169185 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 95169458 95169458 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 7 95169863 95169863 single base substitution C T downstream_gene_variant BRCA-EU 7 95170171 95170171 single base substitution G T downstream_gene_variant BRCA-EU 7 95171605 95171605 single base substitution T C downstream_gene_variant BRCA-EU 7 95171777 95171777 single base substitution C G downstream_gene_variant BRCA-FR 7 95109199 95109199 single base substitution G T intron_variant BRCA-FR 7 95110738 95110738 single base substitution G A intron_variant BRCA-FR 7 95110738 95110738 single base substitution G A upstream_gene_variant BRCA-FR 7 95112583 95112583 single base substitution G C intron_variant BRCA-FR 7 95112583 95112583 single base substitution G C upstream_gene_variant BRCA-FR 7 95119337 95119337 single base substitution C G intron_variant BRCA-FR 7 95126984 95126984 single base substitution G A downstream_gene_variant BRCA-FR 7 95126984 95126984 single base substitution G A intron_variant BRCA-FR 7 95129645 95129645 single base substitution G T downstream_gene_variant BRCA-FR 7 95129645 95129645 single base substitution G T intron_variant BRCA-FR 7 95132535 95132535 single base substitution G A intron_variant BRCA-FR 7 95141804 95141804 single base substitution G A intron_variant BRCA-FR 7 95145128 95145128 single base substitution G C intron_variant BRCA-FR 7 95147860 95147860 single base substitution G C intron_variant BRCA-FR 7 95150374 95150374 single base substitution G C intron_variant BRCA-FR 7 95155059 95155059 single base substitution G C intron_variant BRCA-FR 7 95159876 95159876 single base substitution C T downstream_gene_variant BRCA-FR 7 95159876 95159876 single base substitution C T intron_variant BRCA-FR 7 95163530 95163530 single base substitution T G intron_variant BRCA-FR 7 95169863 95169863 single base substitution C T downstream_gene_variant BRCA-FR 7 95172763 95172763 single base substitution C A downstream_gene_variant BRCA-UK 7 95155181 95155181 single base substitution G C intron_variant BRCA-UK 7 95164492 95164492 single base substitution G A intron_variant BRCA-UK 7 95170171 95170171 single base substitution G T downstream_gene_variant BRCA-US 7 95115434 95115434 single base substitution G C intron_variant BRCA-US 7 95115434 95115434 single base substitution G C missense_variant E51Q 151G>C BRCA-US 7 95157289 95157289 single base substitution T C missense_variant W218R 652T>C BTCA-JP 7 95166749 95166749 single base substitution T A intron_variant CESC-US 7 95157138 95157138 single base substitution C T synonymous_variant N167N 501C>T CESC-US 7 95157220 95157220 single base substitution G A missense_variant V195M 583G>A CLLE-ES 7 95107067 95107067 single base substitution T A upstream_gene_variant CLLE-ES 7 95110339 95110339 single base substitution G A intron_variant CLLE-ES 7 95110339 95110339 single base substitution G A upstream_gene_variant CLLE-ES 7 95127358 95127358 single base substitution G A downstream_gene_variant CLLE-ES 7 95127358 95127358 single base substitution G A intron_variant CLLE-ES 7 95131756 95131756 single base substitution C G intron_variant CLLE-ES 7 95139919 95139919 single base substitution C A intron_variant CLLE-ES 7 95146508 95146508 single base substitution T G intron_variant CLLE-ES 7 95158732 95158732 single base substitution A C downstream_gene_variant CLLE-ES 7 95158732 95158732 single base substitution A C intron_variant CLLE-ES 7 95166022 95166022 single base substitution T G intron_variant COAD-US 7 95125290 95125290 single base substitution C T exon_variant COAD-US 7 95125290 95125290 single base substitution C T synonymous_variant Y136Y 408C>T COAD-US 7 95125353 95125353 single base substitution G A exon_variant COAD-US 7 95125353 95125353 single base substitution G A synonymous_variant K157K 471G>A COAD-US 7 95157550 95157550 single base substitution G C missense_variant E305Q 913G>C COCA-CN 7 95114370 95114370 single base substitution A G intron_variant COCA-CN 7 95114370 95114370 single base substitution A G upstream_gene_variant COCA-CN 7 95116235 95116235 single base substitution C T intron_variant COCA-CN 7 95125056 95125056 single base substitution T C intron_variant COCA-CN 7 95125082 95125082 single base substitution C G exon_variant COCA-CN 7 95125082 95125082 single base substitution C G missense_variant P67R 200C>G COCA-CN 7 95128299 95128299 single base substitution A G downstream_gene_variant COCA-CN 7 95128299 95128299 single base substitution A G intron_variant COCA-CN 7 95144471 95144471 single base substitution T C intron_variant COCA-CN 7 95151868 95151868 single base substitution A C intron_variant COCA-CN 7 95165942 95165942 single base substitution A C intron_variant COCA-CN 7 95166964 95166964 single base substitution A G missense_variant I392V 1174A>G COCA-CN 7 95170239 95170239 single base substitution T G downstream_gene_variant COCA-CN 7 95172789 95172789 single base substitution C A downstream_gene_variant COCA-CN 7 95173173 95173173 single base substitution T C downstream_gene_variant EOPC-DE 7 95131768 95131768 single base substitution G A intron_variant ESAD-UK 7 95103151 95103151 single base substitution G A upstream_gene_variant ESAD-UK 7 95104763 95104763 single base substitution T G upstream_gene_variant ESAD-UK 7 95106521 95106521 single base substitution A C upstream_gene_variant ESAD-UK 7 95106653 95106653 single base substitution G A upstream_gene_variant ESAD-UK 7 95107681 95107681 single base substitution A T upstream_gene_variant ESAD-UK 7 95108938 95108938 single base substitution T G intron_variant ESAD-UK 7 95110625 95110625 single base substitution C A intron_variant ESAD-UK 7 95110625 95110625 single base substitution C A upstream_gene_variant ESAD-UK 7 95111358 95111358 single base substitution G T intron_variant ESAD-UK 7 95111358 95111358 single base substitution G T upstream_gene_variant ESAD-UK 7 95111740 95111740 single base substitution G A intron_variant ESAD-UK 7 95111740 95111740 single base substitution G A upstream_gene_variant ESAD-UK 7 95111959 95111959 single base substitution G A intron_variant ESAD-UK 7 95111959 95111959 single base substitution G A upstream_gene_variant ESAD-UK 7 95115762 95115762 single base substitution A C intron_variant ESAD-UK 7 95119080 95119080 single base substitution G A intron_variant ESAD-UK 7 95119406 95119406 single base substitution C A intron_variant ESAD-UK 7 95120465 95120465 single base substitution T A intron_variant ESAD-UK 7 95122423 95122423 single base substitution C A intron_variant ESAD-UK 7 95123850 95123850 single base substitution A T intron_variant ESAD-UK 7 95124438 95124438 single base substitution C T intron_variant ESAD-UK 7 95126007 95126007 single base substitution A G downstream_gene_variant ESAD-UK 7 95126007 95126007 single base substitution A G intron_variant ESAD-UK 7 95126647 95126647 single base substitution A C downstream_gene_variant ESAD-UK 7 95126647 95126647 single base substitution A C intron_variant ESAD-UK 7 95132167 95132167 single base substitution G A intron_variant ESAD-UK 7 95132915 95132915 single base substitution C A intron_variant ESAD-UK 7 95133738 95133738 single base substitution C T intron_variant ESAD-UK 7 95134732 95134732 single base substitution G C intron_variant ESAD-UK 7 95135607 95135607 single base substitution G T intron_variant ESAD-UK 7 95135720 95135720 single base substitution A G intron_variant ESAD-UK 7 95136656 95136656 single base substitution T G intron_variant ESAD-UK 7 95138167 95138167 single base substitution A C intron_variant ESAD-UK 7 95138168 95138168 single base substitution G C intron_variant ESAD-UK 7 95138277 95138277 single base substitution C T intron_variant ESAD-UK 7 95139003 95139003 single base substitution G C intron_variant ESAD-UK 7 95139391 95139391 single base substitution A G intron_variant ESAD-UK 7 95139425 95139425 single base substitution T A intron_variant ESAD-UK 7 95140531 95140531 single base substitution T C intron_variant ESAD-UK 7 95141314 95141314 single base substitution T C intron_variant ESAD-UK 7 95144910 95144910 single base substitution T G intron_variant ESAD-UK 7 95145460 95145460 single base substitution T G intron_variant ESAD-UK 7 95147394 95147394 single base substitution G C intron_variant ESAD-UK 7 95148699 95148699 single base substitution A G intron_variant ESAD-UK 7 95150331 95150331 deletion of <=200bp A - intron_variant ESAD-UK 7 95151076 95151076 single base substitution A T intron_variant ESAD-UK 7 95151442 95151442 single base substitution T G intron_variant ESAD-UK 7 95151590 95151590 insertion of <=200bp - T intron_variant ESAD-UK 7 95152623 95152623 single base substitution C T intron_variant ESAD-UK 7 95152816 95152816 single base substitution T A intron_variant ESAD-UK 7 95154575 95154575 single base substitution T G intron_variant ESAD-UK 7 95155029 95155029 single base substitution T G intron_variant ESAD-UK 7 95155034 95155034 single base substitution T G intron_variant ESAD-UK 7 95155183 95155183 single base substitution G A intron_variant ESAD-UK 7 95155399 95155399 single base substitution T C intron_variant ESAD-UK 7 95155940 95155940 single base substitution G T intron_variant ESAD-UK 7 95155941 95155941 single base substitution A T intron_variant ESAD-UK 7 95156460 95156460 single base substitution T G intron_variant ESAD-UK 7 95156740 95156740 single base substitution C A intron_variant ESAD-UK 7 95156926 95156926 single base substitution A G intron_variant ESAD-UK 7 95157562 95157562 single base substitution C A missense_variant Q309K 925C>A ESAD-UK 7 95159916 95159916 single base substitution A T downstream_gene_variant ESAD-UK 7 95159916 95159916 single base substitution A T intron_variant ESAD-UK 7 95160388 95160388 single base substitution G A downstream_gene_variant ESAD-UK 7 95160388 95160388 single base substitution G A intron_variant ESAD-UK 7 95163454 95163454 single base substitution C G intron_variant ESAD-UK 7 95164842 95164842 single base substitution G A intron_variant ESAD-UK 7 95165847 95165847 single base substitution C T synonymous_variant P359P 1077C>T ESAD-UK 7 95166942 95166942 single base substitution C G synonymous_variant L384L 1152C>G ESAD-UK 7 95168048 95168048 single base substitution A C 3_prime_UTR_variant ESAD-UK 7 95170634 95170634 insertion of <=200bp - AT downstream_gene_variant ESAD-UK 7 95171422 95171422 single base substitution C A downstream_gene_variant ESAD-UK 7 95171731 95171731 single base substitution T G downstream_gene_variant ESAD-UK 7 95172412 95172412 single base substitution G T downstream_gene_variant ESAD-UK 7 95173994 95173994 single base substitution T C downstream_gene_variant ESCA-CN 7 95125081 95125081 single base substitution C A exon_variant ESCA-CN 7 95125081 95125081 single base substitution C A missense_variant P67T 199C>A ESCA-CN 7 95125196 95125196 single base substitution C A exon_variant ESCA-CN 7 95125196 95125196 single base substitution C A missense_variant P105H 314C>A ESCA-CN 7 95125197 95125197 single base substitution C T exon_variant ESCA-CN 7 95125197 95125197 single base substitution C T synonymous_variant P105P 315C>T ESCA-CN 7 95165823 95165823 single base substitution C T synonymous_variant N351N 1053C>T GBM-US 7 95115358 95115358 single base substitution A G intron_variant GBM-US 7 95115358 95115358 single base substitution A G synonymous_variant L25L 75A>G KIRC-US 7 95157534 95157534 single base substitution C T synonymous_variant R299R 897C>T KIRP-US 7 95125264 95125264 single base substitution G A exon_variant KIRP-US 7 95125264 95125264 single base substitution G A missense_variant D128N 382G>A LAML-KR 7 95129521 95129521 single base substitution G A downstream_gene_variant LAML-KR 7 95129521 95129521 single base substitution G A intron_variant LAML-KR 7 95142587 95142587 single base substitution A T intron_variant LAML-KR 7 95144564 95144564 single base substitution C T intron_variant LAML-KR 7 95144632 95144632 single base substitution C T intron_variant LAML-KR 7 95144652 95144652 single base substitution T C intron_variant LAML-KR 7 95167322 95167322 single base substitution G C 3_prime_UTR_variant LAML-KR 7 95174094 95174094 single base substitution C T downstream_gene_variant LGG-US 7 95165776 95165776 single base substitution A G missense_variant K336E 1006A>G LICA-FR 7 95115433 95115433 single base substitution C T intron_variant LICA-FR 7 95115433 95115433 single base substitution C T synonymous_variant V50V 150C>T LICA-FR 7 95144665 95144665 single base substitution T C intron_variant LICA-FR 7 95146204 95146204 single base substitution C T intron_variant LICA-FR 7 95170279 95170279 single base substitution T G downstream_gene_variant LIHC-US 7 95115314 95115314 single base substitution T C intron_variant LIHC-US 7 95115314 95115314 single base substitution T C missense_variant S11P 31T>C LIHC-US 7 95157219 95157219 single base substitution C T synonymous_variant Y194Y 582C>T LINC-JP 7 95103733 95103733 single base substitution T G upstream_gene_variant LINC-JP 7 95105190 95105190 single base substitution C G upstream_gene_variant LINC-JP 7 95134486 95134486 single base substitution G A intron_variant LINC-JP 7 95157892 95157892 single base substitution G A 3_prime_UTR_variant LINC-JP 7 95157892 95157892 single base substitution G A intron_variant LINC-JP 7 95162047 95162047 single base substitution A G downstream_gene_variant LINC-JP 7 95162047 95162047 single base substitution A G intron_variant LINC-JP 7 95166992 95166992 single base substitution A G missense_variant H401R 1202A>G LINC-JP 7 95168287 95168287 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 95107178 95107178 insertion of <=200bp - CTC upstream_gene_variant LIRI-JP 7 95107327 95107327 single base substitution A T upstream_gene_variant LIRI-JP 7 95109015 95109015 single base substitution A G intron_variant LIRI-JP 7 95109369 95109369 single base substitution C T intron_variant LIRI-JP 7 95110695 95110695 single base substitution G A intron_variant LIRI-JP 7 95110695 95110695 single base substitution G A upstream_gene_variant LIRI-JP 7 95110982 95110982 single base substitution G C intron_variant LIRI-JP 7 95110982 95110982 single base substitution G C upstream_gene_variant LIRI-JP 7 95111969 95111969 single base substitution A T intron_variant LIRI-JP 7 95111969 95111969 single base substitution A T upstream_gene_variant LIRI-JP 7 95116910 95116910 single base substitution G C intron_variant LIRI-JP 7 95117913 95117913 single base substitution C T intron_variant LIRI-JP 7 95119296 95119296 single base substitution A G intron_variant LIRI-JP 7 95119839 95119839 single base substitution A T intron_variant LIRI-JP 7 95123504 95123504 single base substitution G T intron_variant LIRI-JP 7 95123942 95123942 single base substitution G A intron_variant LIRI-JP 7 95124425 95124425 single base substitution T C intron_variant LIRI-JP 7 95125268 95125268 single base substitution G A exon_variant LIRI-JP 7 95125268 95125268 single base substitution G A missense_variant R129H 386G>A LIRI-JP 7 95129464 95129464 single base substitution A T downstream_gene_variant LIRI-JP 7 95129464 95129464 single base substitution A T intron_variant LIRI-JP 7 95129468 95129468 single base substitution G T downstream_gene_variant LIRI-JP 7 95129468 95129468 single base substitution G T intron_variant LIRI-JP 7 95131861 95131861 single base substitution C G intron_variant LIRI-JP 7 95132276 95132276 deletion of <=200bp T - intron_variant LIRI-JP 7 95132785 95132785 single base substitution C A intron_variant LIRI-JP 7 95133032 95133032 single base substitution A G intron_variant LIRI-JP 7 95133904 95133904 single base substitution G C intron_variant LIRI-JP 7 95133907 95133907 single base substitution C A intron_variant LIRI-JP 7 95139206 95139206 single base substitution G T intron_variant LIRI-JP 7 95139742 95139742 single base substitution T C intron_variant LIRI-JP 7 95140356 95140356 single base substitution A T intron_variant LIRI-JP 7 95141133 95141133 single base substitution G C intron_variant LIRI-JP 7 95141890 95141890 single base substitution A G intron_variant LIRI-JP 7 95145083 95145083 single base substitution G T intron_variant LIRI-JP 7 95145117 95145117 single base substitution T C intron_variant LIRI-JP 7 95146134 95146134 single base substitution G A intron_variant LIRI-JP 7 95146862 95146862 single base substitution A G intron_variant LIRI-JP 7 95149051 95149051 single base substitution A C intron_variant LIRI-JP 7 95151045 95151045 single base substitution A T intron_variant LIRI-JP 7 95151773 95151773 single base substitution A G intron_variant LIRI-JP 7 95153086 95153086 single base substitution G T intron_variant LIRI-JP 7 95155420 95155420 single base substitution A G intron_variant LIRI-JP 7 95155532 95155532 single base substitution C A intron_variant LIRI-JP 7 95160692 95160692 single base substitution G A downstream_gene_variant LIRI-JP 7 95160692 95160692 single base substitution G A intron_variant LIRI-JP 7 95164351 95164351 single base substitution C G intron_variant LIRI-JP 7 95164892 95164892 single base substitution C T intron_variant LIRI-JP 7 95166280 95166280 single base substitution G C intron_variant LIRI-JP 7 95168062 95168062 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 95173257 95173257 single base substitution A G downstream_gene_variant LUSC-KR 7 95107480 95107480 single base substitution G A upstream_gene_variant LUSC-KR 7 95107615 95107615 single base substitution G A upstream_gene_variant LUSC-KR 7 95112250 95112250 single base substitution T A intron_variant LUSC-KR 7 95112250 95112250 single base substitution T A upstream_gene_variant LUSC-KR 7 95115202 95115202 single base substitution T C intron_variant LUSC-KR 7 95115202 95115202 single base substitution T C upstream_gene_variant LUSC-KR 7 95115907 95115907 single base substitution G T intron_variant LUSC-KR 7 95119141 95119141 single base substitution G T intron_variant LUSC-KR 7 95119515 95119515 single base substitution A T intron_variant LUSC-KR 7 95122447 95122447 single base substitution C A intron_variant LUSC-KR 7 95122698 95122698 single base substitution G A intron_variant LUSC-KR 7 95124672 95124672 single base substitution C A intron_variant LUSC-KR 7 95126356 95126356 single base substitution G T downstream_gene_variant LUSC-KR 7 95126356 95126356 single base substitution G T intron_variant LUSC-KR 7 95136914 95136914 single base substitution G A intron_variant LUSC-KR 7 95137483 95137483 single base substitution T C intron_variant LUSC-KR 7 95139976 95139976 single base substitution A G intron_variant LUSC-KR 7 95140190 95140190 single base substitution C A intron_variant LUSC-KR 7 95140731 95140731 single base substitution G C intron_variant LUSC-KR 7 95141555 95141555 single base substitution G A intron_variant LUSC-KR 7 95144588 95144588 single base substitution T C intron_variant LUSC-KR 7 95144592 95144592 single base substitution T C intron_variant LUSC-KR 7 95144632 95144632 single base substitution C T intron_variant LUSC-KR 7 95144648 95144648 single base substitution T C intron_variant LUSC-KR 7 95144652 95144652 single base substitution T C intron_variant LUSC-KR 7 95150683 95150683 single base substitution C A intron_variant LUSC-KR 7 95154586 95154586 single base substitution T A intron_variant LUSC-KR 7 95155206 95155206 single base substitution G T intron_variant LUSC-KR 7 95155207 95155207 single base substitution G T intron_variant LUSC-KR 7 95156532 95156532 single base substitution T C intron_variant LUSC-KR 7 95158587 95158587 single base substitution C T downstream_gene_variant LUSC-KR 7 95158587 95158587 single base substitution C T intron_variant LUSC-KR 7 95158970 95158970 single base substitution G A downstream_gene_variant LUSC-KR 7 95158970 95158970 single base substitution G A intron_variant LUSC-KR 7 95161942 95161942 single base substitution G A downstream_gene_variant LUSC-KR 7 95161942 95161942 single base substitution G A intron_variant LUSC-KR 7 95162941 95162941 single base substitution G T downstream_gene_variant LUSC-KR 7 95162941 95162941 single base substitution G T intron_variant LUSC-KR 7 95164569 95164569 single base substitution T A intron_variant LUSC-KR 7 95169442 95169442 single base substitution G C 3_prime_UTR_variant LUSC-KR 7 95170922 95170922 single base substitution G T downstream_gene_variant LUSC-KR 7 95171552 95171552 single base substitution A T downstream_gene_variant LUSC-US 7 95115428 95115428 single base substitution G C intron_variant LUSC-US 7 95115428 95115428 single base substitution G C missense_variant E49Q 145G>C LUSC-US 7 95125305 95125305 single base substitution C A exon_variant LUSC-US 7 95125305 95125305 single base substitution C A missense_variant H141Q 423C>A LUSC-US 7 95157214 95157214 single base substitution T A missense_variant F193I 577T>A LUSC-US 7 95157272 95157272 single base substitution T C missense_variant L212P 635T>C LUSC-US 7 95166990 95166990 single base substitution C A stop_gained C400* 1200C>A LUSC-US 7 95167000 95167000 single base substitution A T missense_variant I404F 1210A>T LUSC-US 7 95167003 95167003 single base substitution C T missense_variant P405S 1213C>T MALY-DE 7 95106745 95106745 single base substitution A T upstream_gene_variant MALY-DE 7 95108489 95108489 single base substitution T A intron_variant MALY-DE 7 95108759 95108759 single base substitution C A intron_variant MALY-DE 7 95112877 95112877 single base substitution C G intron_variant MALY-DE 7 95112877 95112877 single base substitution C G upstream_gene_variant MALY-DE 7 95115246 95115246 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 7 95115246 95115246 single base substitution C T intron_variant MALY-DE 7 95117606 95117606 single base substitution T A intron_variant MALY-DE 7 95118979 95118979 single base substitution C T intron_variant MALY-DE 7 95122089 95122089 single base substitution A G intron_variant MALY-DE 7 95122192 95122192 single base substitution G A intron_variant MALY-DE 7 95124615 95124615 single base substitution A G intron_variant MALY-DE 7 95124692 95124692 single base substitution T A intron_variant MALY-DE 7 95130419 95130419 single base substitution A C downstream_gene_variant MALY-DE 7 95130419 95130419 single base substitution A C intron_variant MALY-DE 7 95133694 95133694 single base substitution G A intron_variant MALY-DE 7 95134901 95134901 single base substitution G T intron_variant MALY-DE 7 95136699 95136699 single base substitution C T intron_variant MALY-DE 7 95139941 95139941 single base substitution A C intron_variant MALY-DE 7 95142754 95142754 single base substitution G A intron_variant MALY-DE 7 95144024 95144024 single base substitution C T intron_variant MALY-DE 7 95145694 95145694 single base substitution G A intron_variant MALY-DE 7 95146041 95146041 single base substitution C A intron_variant MALY-DE 7 95149154 95149154 deletion of <=200bp T - intron_variant MALY-DE 7 95149267 95149267 single base substitution A G intron_variant MALY-DE 7 95151547 95151547 single base substitution C A intron_variant MALY-DE 7 95155383 95155383 single base substitution C A intron_variant MALY-DE 7 95163945 95163945 single base substitution C T intron_variant MALY-DE 7 95164278 95164278 single base substitution T C intron_variant MALY-DE 7 95164558 95164558 single base substitution A T intron_variant MALY-DE 7 95167601 95167601 single base substitution G A 3_prime_UTR_variant MALY-DE 7 95167798 95167798 single base substitution A C 3_prime_UTR_variant MALY-DE 7 95167799 95167799 single base substitution C A 3_prime_UTR_variant MALY-DE 7 95168692 95168692 single base substitution T G 3_prime_UTR_variant MALY-DE 7 95170129 95170129 single base substitution T A downstream_gene_variant MALY-DE 7 95171731 95171731 single base substitution T G downstream_gene_variant MALY-DE 7 95173591 95173591 single base substitution C T downstream_gene_variant MELA-AU 7 95103593 95103593 single base substitution C T upstream_gene_variant MELA-AU 7 95103976 95103976 single base substitution G A upstream_gene_variant MELA-AU 7 95104274 95104274 single base substitution G A upstream_gene_variant MELA-AU 7 95104458 95104458 single base substitution T A upstream_gene_variant MELA-AU 7 95105465 95105466 deletion of <=200bp TC - upstream_gene_variant MELA-AU 7 95105596 95105596 single base substitution C T upstream_gene_variant MELA-AU 7 95106327 95106327 single base substitution G A upstream_gene_variant MELA-AU 7 95106588 95106588 single base substitution C T upstream_gene_variant MELA-AU 7 95107055 95107055 single base substitution T C upstream_gene_variant MELA-AU 7 95108119 95108119 single base substitution C T intron_variant MELA-AU 7 95108191 95108191 single base substitution T A intron_variant MELA-AU 7 95108311 95108311 single base substitution G A intron_variant MELA-AU 7 95108402 95108402 single base substitution G A intron_variant MELA-AU 7 95108568 95108568 single base substitution C G intron_variant MELA-AU 7 95109230 95109230 single base substitution C T intron_variant MELA-AU 7 95109274 95109274 single base substitution C T intron_variant MELA-AU 7 95109298 95109298 single base substitution C T intron_variant MELA-AU 7 95109299 95109299 single base substitution C T intron_variant MELA-AU 7 95109370 95109370 single base substitution C T intron_variant MELA-AU 7 95109609 95109609 single base substitution C T intron_variant MELA-AU 7 95109707 95109707 single base substitution C T intron_variant MELA-AU 7 95110097 95110097 single base substitution A G intron_variant MELA-AU 7 95110960 95110960 single base substitution G A intron_variant MELA-AU 7 95110960 95110960 single base substitution G A upstream_gene_variant MELA-AU 7 95111027 95111027 single base substitution G A intron_variant MELA-AU 7 95111027 95111027 single base substitution G A upstream_gene_variant MELA-AU 7 95111403 95111403 single base substitution A G intron_variant MELA-AU 7 95111403 95111403 single base substitution A G upstream_gene_variant MELA-AU 7 95111567 95111567 single base substitution G A intron_variant MELA-AU 7 95111567 95111567 single base substitution G A upstream_gene_variant MELA-AU 7 95112350 95112350 single base substitution C T intron_variant MELA-AU 7 95112350 95112350 single base substitution C T upstream_gene_variant MELA-AU 7 95112831 95112831 single base substitution C T intron_variant MELA-AU 7 95112831 95112831 single base substitution C T upstream_gene_variant MELA-AU 7 95112906 95112906 single base substitution A G intron_variant MELA-AU 7 95112906 95112906 single base substitution A G upstream_gene_variant MELA-AU 7 95112966 95112966 single base substitution G A intron_variant MELA-AU 7 95112966 95112966 single base substitution G A upstream_gene_variant MELA-AU 7 95113432 95113432 single base substitution G A intron_variant MELA-AU 7 95113432 95113432 single base substitution G A upstream_gene_variant MELA-AU 7 95114265 95114265 single base substitution C T intron_variant MELA-AU 7 95114265 95114265 single base substitution C T upstream_gene_variant MELA-AU 7 95114278 95114278 single base substitution G A intron_variant MELA-AU 7 95114278 95114278 single base substitution G A upstream_gene_variant MELA-AU 7 95114947 95114947 single base substitution T A intron_variant MELA-AU 7 95114947 95114947 single base substitution T A upstream_gene_variant MELA-AU 7 95115117 95115117 single base substitution C T intron_variant MELA-AU 7 95115117 95115117 single base substitution C T upstream_gene_variant MELA-AU 7 95115147 95115147 single base substitution C T intron_variant MELA-AU 7 95115147 95115147 single base substitution C T upstream_gene_variant MELA-AU 7 95115249 95115249 single base substitution T A 5_prime_UTR_variant MELA-AU 7 95115249 95115249 single base substitution T A intron_variant MELA-AU 7 95115254 95115254 single base substitution C T 5_prime_UTR_variant MELA-AU 7 95115254 95115254 single base substitution C T intron_variant MELA-AU 7 95115273 95115273 single base substitution G A 5_prime_UTR_variant MELA-AU 7 95115273 95115273 single base substitution G A intron_variant MELA-AU 7 95115716 95115716 single base substitution C T intron_variant MELA-AU 7 95115866 95115866 single base substitution C T intron_variant MELA-AU 7 95115895 95115895 single base substitution C T intron_variant MELA-AU 7 95115903 95115903 single base substitution C T intron_variant MELA-AU 7 95115992 95115992 single base substitution C T intron_variant MELA-AU 7 95116165 95116165 single base substitution G A intron_variant MELA-AU 7 95116240 95116240 single base substitution G C intron_variant MELA-AU 7 95116387 95116387 single base substitution G A intron_variant MELA-AU 7 95116762 95116762 single base substitution G A intron_variant MELA-AU 7 95116970 95116970 single base substitution G A intron_variant MELA-AU 7 95117053 95117053 single base substitution G A intron_variant MELA-AU 7 95117156 95117156 single base substitution A G intron_variant MELA-AU 7 95117224 95117224 single base substitution G A intron_variant MELA-AU 7 95117691 95117691 single base substitution C T intron_variant MELA-AU 7 95117890 95117890 single base substitution G A intron_variant MELA-AU 7 95117917 95117917 single base substitution A G intron_variant MELA-AU 7 95118305 95118305 single base substitution A T intron_variant MELA-AU 7 95118834 95118834 single base substitution G A intron_variant MELA-AU 7 95119011 95119011 single base substitution G A intron_variant MELA-AU 7 95119171 95119171 single base substitution C T intron_variant MELA-AU 7 95119199 95119199 single base substitution C T intron_variant MELA-AU 7 95119242 95119242 single base substitution G A intron_variant MELA-AU 7 95119461 95119461 single base substitution G A intron_variant MELA-AU 7 95119629 95119629 single base substitution C T intron_variant MELA-AU 7 95119707 95119707 single base substitution C T intron_variant MELA-AU 7 95120021 95120021 single base substitution C T intron_variant MELA-AU 7 95120229 95120229 single base substitution G A intron_variant MELA-AU 7 95120251 95120251 single base substitution C T intron_variant MELA-AU 7 95120274 95120274 single base substitution G A intron_variant MELA-AU 7 95120289 95120289 single base substitution G A intron_variant MELA-AU 7 95120333 95120333 single base substitution A G intron_variant MELA-AU 7 95120673 95120674 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95120848 95120848 single base substitution C T intron_variant MELA-AU 7 95120984 95120984 single base substitution C T intron_variant MELA-AU 7 95121441 95121441 single base substitution C T intron_variant MELA-AU 7 95121488 95121488 single base substitution G A intron_variant MELA-AU 7 95121572 95121572 single base substitution G A intron_variant MELA-AU 7 95121616 95121616 single base substitution G A intron_variant MELA-AU 7 95121863 95121863 single base substitution G A intron_variant MELA-AU 7 95121942 95121942 single base substitution T C intron_variant MELA-AU 7 95121964 95121964 single base substitution C T intron_variant MELA-AU 7 95122091 95122091 single base substitution C T intron_variant MELA-AU 7 95122433 95122433 single base substitution C T intron_variant MELA-AU 7 95122487 95122487 single base substitution A T intron_variant MELA-AU 7 95122654 95122654 single base substitution G A intron_variant MELA-AU 7 95122698 95122698 single base substitution G A intron_variant MELA-AU 7 95122991 95122991 single base substitution C T intron_variant MELA-AU 7 95123267 95123267 single base substitution G A intron_variant MELA-AU 7 95123713 95123713 single base substitution A C intron_variant MELA-AU 7 95124171 95124171 single base substitution C T intron_variant MELA-AU 7 95124183 95124183 single base substitution G A intron_variant MELA-AU 7 95124184 95124184 single base substitution G A intron_variant MELA-AU 7 95124226 95124226 single base substitution C T intron_variant MELA-AU 7 95124399 95124399 single base substitution T C intron_variant MELA-AU 7 95124405 95124405 single base substitution C T intron_variant MELA-AU 7 95124438 95124438 single base substitution C T intron_variant MELA-AU 7 95124442 95124442 single base substitution T A intron_variant MELA-AU 7 95124450 95124450 single base substitution C T intron_variant MELA-AU 7 95124810 95124810 single base substitution G A intron_variant MELA-AU 7 95125267 95125267 single base substitution C T exon_variant MELA-AU 7 95125267 95125267 single base substitution C T missense_variant R129C 385C>T MELA-AU 7 95125391 95125391 single base substitution A G exon_variant MELA-AU 7 95125391 95125391 single base substitution A G intron_variant MELA-AU 7 95125520 95125520 single base substitution G A downstream_gene_variant MELA-AU 7 95125520 95125520 single base substitution G A intron_variant MELA-AU 7 95125700 95125700 single base substitution G A downstream_gene_variant MELA-AU 7 95125700 95125700 single base substitution G A intron_variant MELA-AU 7 95125992 95125992 single base substitution C T downstream_gene_variant MELA-AU 7 95125992 95125992 single base substitution C T intron_variant MELA-AU 7 95126079 95126079 single base substitution G A downstream_gene_variant MELA-AU 7 95126079 95126079 single base substitution G A intron_variant MELA-AU 7 95126087 95126087 single base substitution G A downstream_gene_variant MELA-AU 7 95126087 95126087 single base substitution G A intron_variant MELA-AU 7 95126456 95126456 single base substitution G A downstream_gene_variant MELA-AU 7 95126456 95126456 single base substitution G A intron_variant MELA-AU 7 95126645 95126645 single base substitution G A downstream_gene_variant MELA-AU 7 95126645 95126645 single base substitution G A intron_variant MELA-AU 7 95126653 95126653 single base substitution G A downstream_gene_variant MELA-AU 7 95126653 95126653 single base substitution G A intron_variant MELA-AU 7 95126978 95126978 single base substitution C T downstream_gene_variant MELA-AU 7 95126978 95126978 single base substitution C T intron_variant MELA-AU 7 95127032 95127032 single base substitution G A downstream_gene_variant MELA-AU 7 95127032 95127032 single base substitution G A intron_variant MELA-AU 7 95127092 95127092 single base substitution A T downstream_gene_variant MELA-AU 7 95127092 95127092 single base substitution A T intron_variant MELA-AU 7 95127204 95127204 single base substitution C T downstream_gene_variant MELA-AU 7 95127204 95127204 single base substitution C T intron_variant MELA-AU 7 95127251 95127251 single base substitution T A downstream_gene_variant MELA-AU 7 95127251 95127251 single base substitution T A intron_variant MELA-AU 7 95127428 95127428 single base substitution C T downstream_gene_variant MELA-AU 7 95127428 95127428 single base substitution C T intron_variant MELA-AU 7 95127523 95127523 single base substitution C T downstream_gene_variant MELA-AU 7 95127523 95127523 single base substitution C T intron_variant MELA-AU 7 95127692 95127692 single base substitution T C downstream_gene_variant MELA-AU 7 95127692 95127692 single base substitution T C intron_variant MELA-AU 7 95127863 95127863 single base substitution C T downstream_gene_variant MELA-AU 7 95127863 95127863 single base substitution C T intron_variant MELA-AU 7 95127970 95127970 single base substitution C T downstream_gene_variant MELA-AU 7 95127970 95127970 single base substitution C T intron_variant MELA-AU 7 95128024 95128024 single base substitution C T downstream_gene_variant MELA-AU 7 95128024 95128024 single base substitution C T intron_variant MELA-AU 7 95128036 95128036 single base substitution C T downstream_gene_variant MELA-AU 7 95128036 95128036 single base substitution C T intron_variant MELA-AU 7 95128110 95128110 single base substitution G A downstream_gene_variant MELA-AU 7 95128110 95128110 single base substitution G A intron_variant MELA-AU 7 95128160 95128160 single base substitution C T downstream_gene_variant MELA-AU 7 95128160 95128160 single base substitution C T intron_variant MELA-AU 7 95128428 95128428 single base substitution T C downstream_gene_variant MELA-AU 7 95128428 95128428 single base substitution T C intron_variant MELA-AU 7 95128615 95128615 single base substitution G A downstream_gene_variant MELA-AU 7 95128615 95128615 single base substitution G A intron_variant MELA-AU 7 95129040 95129040 single base substitution G A downstream_gene_variant MELA-AU 7 95129040 95129040 single base substitution G A intron_variant MELA-AU 7 95129070 95129070 single base substitution G A downstream_gene_variant MELA-AU 7 95129070 95129070 single base substitution G A intron_variant MELA-AU 7 95129166 95129166 single base substitution G A downstream_gene_variant MELA-AU 7 95129166 95129166 single base substitution G A intron_variant MELA-AU 7 95129249 95129249 single base substitution G A downstream_gene_variant MELA-AU 7 95129249 95129249 single base substitution G A intron_variant MELA-AU 7 95129320 95129320 single base substitution G A downstream_gene_variant MELA-AU 7 95129320 95129320 single base substitution G A intron_variant MELA-AU 7 95129520 95129520 single base substitution C T downstream_gene_variant MELA-AU 7 95129520 95129520 single base substitution C T intron_variant MELA-AU 7 95129624 95129624 single base substitution T A downstream_gene_variant MELA-AU 7 95129624 95129624 single base substitution T A intron_variant MELA-AU 7 95129660 95129660 single base substitution T C downstream_gene_variant MELA-AU 7 95129660 95129660 single base substitution T C intron_variant MELA-AU 7 95129689 95129689 single base substitution G A downstream_gene_variant MELA-AU 7 95129689 95129689 single base substitution G A intron_variant MELA-AU 7 95129700 95129700 single base substitution G A downstream_gene_variant MELA-AU 7 95129700 95129700 single base substitution G A intron_variant MELA-AU 7 95129785 95129785 single base substitution G A downstream_gene_variant MELA-AU 7 95129785 95129785 single base substitution G A intron_variant MELA-AU 7 95130209 95130209 single base substitution C T downstream_gene_variant MELA-AU 7 95130209 95130209 single base substitution C T intron_variant MELA-AU 7 95130342 95130342 single base substitution G A downstream_gene_variant MELA-AU 7 95130342 95130342 single base substitution G A intron_variant MELA-AU 7 95130610 95130610 single base substitution G A intron_variant MELA-AU 7 95130612 95130612 single base substitution G A intron_variant MELA-AU 7 95130636 95130636 single base substitution C T intron_variant MELA-AU 7 95131015 95131015 single base substitution C T intron_variant MELA-AU 7 95131393 95131393 single base substitution C T intron_variant MELA-AU 7 95131822 95131822 single base substitution C T intron_variant MELA-AU 7 95131890 95131890 single base substitution G A intron_variant MELA-AU 7 95132247 95132247 single base substitution C T intron_variant MELA-AU 7 95132630 95132630 single base substitution G A intron_variant MELA-AU 7 95132751 95132751 single base substitution G A intron_variant MELA-AU 7 95132850 95132850 single base substitution G A intron_variant MELA-AU 7 95132904 95132904 single base substitution G A intron_variant MELA-AU 7 95133043 95133043 single base substitution C T intron_variant MELA-AU 7 95133131 95133131 single base substitution A T intron_variant MELA-AU 7 95133185 95133185 single base substitution C T intron_variant MELA-AU 7 95133527 95133527 single base substitution G A intron_variant MELA-AU 7 95133544 95133544 single base substitution G A intron_variant MELA-AU 7 95133590 95133590 single base substitution G A intron_variant MELA-AU 7 95133884 95133884 single base substitution C T intron_variant MELA-AU 7 95133965 95133965 single base substitution G A intron_variant MELA-AU 7 95134003 95134003 single base substitution C T intron_variant MELA-AU 7 95134039 95134039 single base substitution T C intron_variant MELA-AU 7 95134316 95134316 single base substitution A T intron_variant MELA-AU 7 95134456 95134456 single base substitution G A intron_variant MELA-AU 7 95134515 95134515 single base substitution G A intron_variant MELA-AU 7 95134773 95134773 single base substitution G A intron_variant MELA-AU 7 95134863 95134863 single base substitution C T intron_variant MELA-AU 7 95135001 95135001 single base substitution C T intron_variant MELA-AU 7 95135216 95135216 single base substitution C T intron_variant MELA-AU 7 95135240 95135240 single base substitution C T intron_variant MELA-AU 7 95135522 95135522 single base substitution T C intron_variant MELA-AU 7 95135586 95135586 single base substitution C T intron_variant MELA-AU 7 95135926 95135926 single base substitution G A intron_variant MELA-AU 7 95136072 95136072 single base substitution C T intron_variant MELA-AU 7 95136300 95136300 single base substitution C T intron_variant MELA-AU 7 95136421 95136421 single base substitution G A intron_variant MELA-AU 7 95136791 95136791 single base substitution C T intron_variant MELA-AU 7 95136812 95136812 single base substitution C T intron_variant MELA-AU 7 95136907 95136907 single base substitution G A intron_variant MELA-AU 7 95136988 95136988 single base substitution C T intron_variant MELA-AU 7 95137015 95137015 single base substitution G A intron_variant MELA-AU 7 95137096 95137096 single base substitution C T intron_variant MELA-AU 7 95137159 95137160 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95137160 95137160 single base substitution C T intron_variant MELA-AU 7 95137242 95137242 single base substitution G A intron_variant MELA-AU 7 95137355 95137355 single base substitution G A intron_variant MELA-AU 7 95137514 95137514 single base substitution G A intron_variant MELA-AU 7 95137588 95137588 single base substitution G T intron_variant MELA-AU 7 95137637 95137637 single base substitution C T intron_variant MELA-AU 7 95138198 95138198 single base substitution G A intron_variant MELA-AU 7 95138423 95138423 single base substitution G A intron_variant MELA-AU 7 95138470 95138470 single base substitution G A intron_variant MELA-AU 7 95139164 95139164 single base substitution C T intron_variant MELA-AU 7 95139519 95139519 single base substitution G A intron_variant MELA-AU 7 95139783 95139783 single base substitution C T intron_variant MELA-AU 7 95139783 95139784 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 95139814 95139814 single base substitution A T intron_variant MELA-AU 7 95139817 95139817 single base substitution G A intron_variant MELA-AU 7 95140174 95140174 single base substitution C T intron_variant MELA-AU 7 95140190 95140190 single base substitution C T intron_variant MELA-AU 7 95140287 95140287 single base substitution G A intron_variant MELA-AU 7 95140384 95140384 single base substitution C T intron_variant MELA-AU 7 95140525 95140525 single base substitution C T intron_variant MELA-AU 7 95140958 95140958 single base substitution G A intron_variant MELA-AU 7 95141219 95141219 single base substitution G C intron_variant MELA-AU 7 95141231 95141231 single base substitution T C intron_variant MELA-AU 7 95141576 95141576 single base substitution A T intron_variant MELA-AU 7 95141709 95141709 single base substitution C T intron_variant MELA-AU 7 95141864 95141864 single base substitution G A intron_variant MELA-AU 7 95141869 95141869 single base substitution C T intron_variant MELA-AU 7 95142037 95142037 single base substitution G A intron_variant MELA-AU 7 95142199 95142199 single base substitution C T intron_variant MELA-AU 7 95142301 95142301 single base substitution C T intron_variant MELA-AU 7 95142440 95142440 single base substitution G A intron_variant MELA-AU 7 95142661 95142661 single base substitution G A intron_variant MELA-AU 7 95143488 95143488 single base substitution C T intron_variant MELA-AU 7 95143638 95143638 single base substitution C T intron_variant MELA-AU 7 95143780 95143780 single base substitution G A intron_variant MELA-AU 7 95143933 95143933 single base substitution T A intron_variant MELA-AU 7 95144543 95144543 single base substitution T C intron_variant MELA-AU 7 95144581 95144581 single base substitution C T intron_variant MELA-AU 7 95144632 95144632 single base substitution C T intron_variant MELA-AU 7 95144667 95144667 single base substitution C T intron_variant MELA-AU 7 95144717 95144717 single base substitution C T intron_variant MELA-AU 7 95144808 95144808 single base substitution A G intron_variant MELA-AU 7 95144820 95144820 single base substitution C T intron_variant MELA-AU 7 95144951 95144951 single base substitution C T intron_variant MELA-AU 7 95145259 95145259 single base substitution C T intron_variant MELA-AU 7 95145262 95145262 single base substitution C T intron_variant MELA-AU 7 95145350 95145350 single base substitution C T intron_variant MELA-AU 7 95145352 95145352 single base substitution C T intron_variant MELA-AU 7 95145401 95145401 single base substitution G A intron_variant MELA-AU 7 95145482 95145482 single base substitution G A intron_variant MELA-AU 7 95145510 95145510 single base substitution G A intron_variant MELA-AU 7 95145595 95145595 single base substitution C T intron_variant MELA-AU 7 95146130 95146130 single base substitution C T intron_variant MELA-AU 7 95146294 95146294 single base substitution T G intron_variant MELA-AU 7 95146379 95146379 single base substitution C T intron_variant MELA-AU 7 95146605 95146605 single base substitution C T intron_variant MELA-AU 7 95146765 95146765 single base substitution G A intron_variant MELA-AU 7 95146845 95146845 single base substitution G A intron_variant MELA-AU 7 95146907 95146907 single base substitution G A intron_variant MELA-AU 7 95147077 95147077 single base substitution G A intron_variant MELA-AU 7 95147240 95147240 single base substitution C T intron_variant MELA-AU 7 95147367 95147367 single base substitution C A intron_variant MELA-AU 7 95147625 95147625 single base substitution C T intron_variant MELA-AU 7 95147883 95147883 single base substitution C T intron_variant MELA-AU 7 95147888 95147888 single base substitution G A intron_variant MELA-AU 7 95148008 95148008 single base substitution G A intron_variant MELA-AU 7 95148068 95148068 single base substitution C T intron_variant MELA-AU 7 95148079 95148079 single base substitution A T intron_variant MELA-AU 7 95148746 95148746 single base substitution G A intron_variant MELA-AU 7 95148918 95148918 single base substitution A G intron_variant MELA-AU 7 95148988 95148988 single base substitution G A intron_variant MELA-AU 7 95149464 95149464 single base substitution A T intron_variant MELA-AU 7 95150210 95150210 single base substitution C A intron_variant MELA-AU 7 95150243 95150243 single base substitution A T intron_variant MELA-AU 7 95150255 95150255 single base substitution T C intron_variant MELA-AU 7 95150293 95150293 single base substitution G A intron_variant MELA-AU 7 95150697 95150697 single base substitution A G intron_variant MELA-AU 7 95150779 95150779 single base substitution G A intron_variant MELA-AU 7 95151259 95151259 single base substitution C T intron_variant MELA-AU 7 95151298 95151298 single base substitution T G intron_variant MELA-AU 7 95151360 95151360 single base substitution T C intron_variant MELA-AU 7 95151575 95151575 single base substitution G A intron_variant MELA-AU 7 95152448 95152448 single base substitution G A intron_variant MELA-AU 7 95152551 95152551 single base substitution G A intron_variant MELA-AU 7 95152696 95152696 single base substitution G A intron_variant MELA-AU 7 95153078 95153078 single base substitution C T intron_variant MELA-AU 7 95153231 95153231 single base substitution G A intron_variant MELA-AU 7 95153401 95153401 single base substitution T C intron_variant MELA-AU 7 95154023 95154023 single base substitution C T intron_variant MELA-AU 7 95154046 95154046 single base substitution C T intron_variant MELA-AU 7 95154065 95154065 single base substitution G A intron_variant MELA-AU 7 95154096 95154096 single base substitution G A intron_variant MELA-AU 7 95154117 95154117 single base substitution C T intron_variant MELA-AU 7 95154193 95154193 single base substitution C T intron_variant MELA-AU 7 95154280 95154280 single base substitution C T intron_variant MELA-AU 7 95154311 95154311 single base substitution C T intron_variant MELA-AU 7 95154370 95154370 single base substitution C T intron_variant MELA-AU 7 95154716 95154716 single base substitution C T intron_variant MELA-AU 7 95155021 95155021 single base substitution C T intron_variant MELA-AU 7 95155027 95155027 single base substitution C T intron_variant MELA-AU 7 95155745 95155745 single base substitution T C intron_variant MELA-AU 7 95156268 95156268 single base substitution T C intron_variant MELA-AU 7 95156468 95156468 single base substitution G C intron_variant MELA-AU 7 95156599 95156599 single base substitution C T intron_variant MELA-AU 7 95156621 95156621 single base substitution C T intron_variant MELA-AU 7 95156899 95156899 single base substitution C G intron_variant MELA-AU 7 95156904 95156904 single base substitution G A intron_variant MELA-AU 7 95156958 95156958 single base substitution C T intron_variant MELA-AU 7 95157127 95157127 single base substitution G A missense_variant A164T 490G>A MELA-AU 7 95158066 95158066 single base substitution T C 3_prime_UTR_variant MELA-AU 7 95158066 95158066 single base substitution T C intron_variant MELA-AU 7 95158129 95158129 single base substitution T A downstream_gene_variant MELA-AU 7 95158129 95158129 single base substitution T A intron_variant MELA-AU 7 95158152 95158152 single base substitution G A downstream_gene_variant MELA-AU 7 95158152 95158152 single base substitution G A intron_variant MELA-AU 7 95158381 95158381 single base substitution G A downstream_gene_variant MELA-AU 7 95158381 95158381 single base substitution G A intron_variant MELA-AU 7 95158505 95158505 single base substitution G C downstream_gene_variant MELA-AU 7 95158505 95158505 single base substitution G C intron_variant MELA-AU 7 95158533 95158533 single base substitution T G downstream_gene_variant MELA-AU 7 95158533 95158533 single base substitution T G intron_variant MELA-AU 7 95158596 95158596 single base substitution C T downstream_gene_variant MELA-AU 7 95158596 95158596 single base substitution C T intron_variant MELA-AU 7 95158822 95158822 single base substitution G A downstream_gene_variant MELA-AU 7 95158822 95158822 single base substitution G A intron_variant MELA-AU 7 95158984 95158984 single base substitution G A downstream_gene_variant MELA-AU 7 95158984 95158984 single base substitution G A intron_variant MELA-AU 7 95159016 95159016 single base substitution A T downstream_gene_variant MELA-AU 7 95159016 95159016 single base substitution A T intron_variant MELA-AU 7 95159265 95159265 single base substitution G A downstream_gene_variant MELA-AU 7 95159265 95159265 single base substitution G A intron_variant MELA-AU 7 95159490 95159490 single base substitution G A downstream_gene_variant MELA-AU 7 95159490 95159490 single base substitution G A intron_variant MELA-AU 7 95159491 95159491 single base substitution G A downstream_gene_variant MELA-AU 7 95159491 95159491 single base substitution G A intron_variant MELA-AU 7 95159661 95159661 single base substitution C T downstream_gene_variant MELA-AU 7 95159661 95159661 single base substitution C T intron_variant MELA-AU 7 95159723 95159723 single base substitution G A downstream_gene_variant MELA-AU 7 95159723 95159723 single base substitution G A intron_variant MELA-AU 7 95159792 95159792 single base substitution G A downstream_gene_variant MELA-AU 7 95159792 95159792 single base substitution G A intron_variant MELA-AU 7 95159793 95159793 single base substitution G A downstream_gene_variant MELA-AU 7 95159793 95159793 single base substitution G A intron_variant MELA-AU 7 95159802 95159802 single base substitution G A downstream_gene_variant MELA-AU 7 95159802 95159802 single base substitution G A intron_variant MELA-AU 7 95159857 95159857 single base substitution G A downstream_gene_variant MELA-AU 7 95159857 95159857 single base substitution G A intron_variant MELA-AU 7 95159908 95159908 single base substitution G A downstream_gene_variant MELA-AU 7 95159908 95159908 single base substitution G A intron_variant MELA-AU 7 95160135 95160135 single base substitution G A downstream_gene_variant MELA-AU 7 95160135 95160135 single base substitution G A intron_variant MELA-AU 7 95160254 95160255 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 95160254 95160255 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95160322 95160322 single base substitution C T downstream_gene_variant MELA-AU 7 95160322 95160322 single base substitution C T intron_variant MELA-AU 7 95161034 95161034 single base substitution G A downstream_gene_variant MELA-AU 7 95161034 95161034 single base substitution G A intron_variant MELA-AU 7 95161362 95161362 single base substitution C T downstream_gene_variant MELA-AU 7 95161362 95161362 single base substitution C T intron_variant MELA-AU 7 95161365 95161365 single base substitution C T downstream_gene_variant MELA-AU 7 95161365 95161365 single base substitution C T intron_variant MELA-AU 7 95161445 95161445 single base substitution G A downstream_gene_variant MELA-AU 7 95161445 95161445 single base substitution G A intron_variant MELA-AU 7 95161456 95161456 single base substitution G A downstream_gene_variant MELA-AU 7 95161456 95161456 single base substitution G A intron_variant MELA-AU 7 95161517 95161517 single base substitution C T downstream_gene_variant MELA-AU 7 95161517 95161517 single base substitution C T intron_variant MELA-AU 7 95161828 95161828 single base substitution T C downstream_gene_variant MELA-AU 7 95161828 95161828 single base substitution T C intron_variant MELA-AU 7 95161833 95161833 single base substitution G A downstream_gene_variant MELA-AU 7 95161833 95161833 single base substitution G A intron_variant MELA-AU 7 95162155 95162155 single base substitution G A downstream_gene_variant MELA-AU 7 95162155 95162155 single base substitution G A intron_variant MELA-AU 7 95162164 95162164 single base substitution G A downstream_gene_variant MELA-AU 7 95162164 95162164 single base substitution G A intron_variant MELA-AU 7 95162266 95162266 single base substitution C T downstream_gene_variant MELA-AU 7 95162266 95162266 single base substitution C T intron_variant MELA-AU 7 95162286 95162286 single base substitution C T downstream_gene_variant MELA-AU 7 95162286 95162286 single base substitution C T intron_variant MELA-AU 7 95162586 95162586 single base substitution C T downstream_gene_variant MELA-AU 7 95162586 95162586 single base substitution C T intron_variant MELA-AU 7 95162733 95162733 single base substitution G A downstream_gene_variant MELA-AU 7 95162733 95162733 single base substitution G A intron_variant MELA-AU 7 95162751 95162751 single base substitution C T downstream_gene_variant MELA-AU 7 95162751 95162751 single base substitution C T intron_variant MELA-AU 7 95162770 95162770 single base substitution C T downstream_gene_variant MELA-AU 7 95162770 95162770 single base substitution C T intron_variant MELA-AU 7 95163206 95163206 single base substitution G A intron_variant MELA-AU 7 95163404 95163404 single base substitution C T intron_variant MELA-AU 7 95163683 95163683 single base substitution C T intron_variant MELA-AU 7 95163731 95163731 single base substitution C T intron_variant MELA-AU 7 95163928 95163928 single base substitution G C intron_variant MELA-AU 7 95163972 95163972 single base substitution G A intron_variant MELA-AU 7 95164212 95164212 single base substitution C T intron_variant MELA-AU 7 95164702 95164702 single base substitution G A intron_variant MELA-AU 7 95164744 95164744 single base substitution C T intron_variant MELA-AU 7 95164757 95164758 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 95164758 95164758 single base substitution G A intron_variant MELA-AU 7 95164769 95164769 single base substitution C T intron_variant MELA-AU 7 95164776 95164776 single base substitution G A intron_variant MELA-AU 7 95164970 95164970 single base substitution A T intron_variant MELA-AU 7 95165275 95165275 single base substitution C T intron_variant MELA-AU 7 95166117 95166117 single base substitution C T intron_variant MELA-AU 7 95166568 95166568 single base substitution G A intron_variant MELA-AU 7 95166936 95166936 single base substitution G A synonymous_variant R382R 1146G>A MELA-AU 7 95167058 95167058 single base substitution G A missense_variant G423E 1268G>A MELA-AU 7 95167074 95167074 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95168003 95168003 single base substitution G A 3_prime_UTR_variant MELA-AU 7 95168068 95168068 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95168194 95168194 single base substitution G A 3_prime_UTR_variant MELA-AU 7 95168437 95168437 deletion of <=200bp T - 3_prime_UTR_variant MELA-AU 7 95168515 95168515 single base substitution T C 3_prime_UTR_variant MELA-AU 7 95168930 95168930 single base substitution G A 3_prime_UTR_variant MELA-AU 7 95169071 95169071 single base substitution A T 3_prime_UTR_variant MELA-AU 7 95169105 95169105 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95169180 95169180 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95169217 95169217 deletion of <=200bp A - 3_prime_UTR_variant MELA-AU 7 95169489 95169489 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95169530 95169530 single base substitution C T 3_prime_UTR_variant MELA-AU 7 95169787 95169787 single base substitution A G downstream_gene_variant MELA-AU 7 95170457 95170457 single base substitution C T downstream_gene_variant MELA-AU 7 95170709 95170709 single base substitution C T downstream_gene_variant MELA-AU 7 95170781 95170781 single base substitution T A downstream_gene_variant MELA-AU 7 95171029 95171029 single base substitution G A downstream_gene_variant MELA-AU 7 95171057 95171057 single base substitution C T downstream_gene_variant MELA-AU 7 95171458 95171458 single base substitution G A downstream_gene_variant MELA-AU 7 95171543 95171543 single base substitution G A downstream_gene_variant MELA-AU 7 95171551 95171551 single base substitution G A downstream_gene_variant MELA-AU 7 95171600 95171600 single base substitution C T downstream_gene_variant MELA-AU 7 95171711 95171711 single base substitution C T downstream_gene_variant MELA-AU 7 95171712 95171712 single base substitution C T downstream_gene_variant MELA-AU 7 95171902 95171902 single base substitution C T downstream_gene_variant MELA-AU 7 95171984 95171984 single base substitution C T downstream_gene_variant MELA-AU 7 95172109 95172109 single base substitution G A downstream_gene_variant MELA-AU 7 95172182 95172182 single base substitution C T downstream_gene_variant MELA-AU 7 95172500 95172500 single base substitution A T downstream_gene_variant MELA-AU 7 95172714 95172714 single base substitution C T downstream_gene_variant MELA-AU 7 95172784 95172784 single base substitution C T downstream_gene_variant MELA-AU 7 95172807 95172807 single base substitution G A downstream_gene_variant MELA-AU 7 95172872 95172872 single base substitution A C downstream_gene_variant MELA-AU 7 95173106 95173106 single base substitution G A downstream_gene_variant MELA-AU 7 95173242 95173242 single base substitution C T downstream_gene_variant MELA-AU 7 95173348 95173348 single base substitution G A downstream_gene_variant MELA-AU 7 95173382 95173382 single base substitution C T downstream_gene_variant MELA-AU 7 95173389 95173389 single base substitution C T downstream_gene_variant MELA-AU 7 95173440 95173440 single base substitution G A downstream_gene_variant MELA-AU 7 95173517 95173517 single base substitution C T downstream_gene_variant MELA-AU 7 95173560 95173560 single base substitution G A downstream_gene_variant MELA-AU 7 95173900 95173900 single base substitution G A downstream_gene_variant MELA-AU 7 95174027 95174027 single base substitution G A downstream_gene_variant MELA-AU 7 95174490 95174490 single base substitution G A downstream_gene_variant ORCA-IN 7 95104610 95104610 single base substitution G A upstream_gene_variant ORCA-IN 7 95107833 95107833 single base substitution C A exon_variant ORCA-IN 7 95115470 95115470 single base substitution G A intron_variant ORCA-IN 7 95115470 95115470 single base substitution G A missense_variant G63S 187G>A ORCA-IN 7 95119413 95119413 single base substitution C A intron_variant ORCA-IN 7 95138555 95138555 single base substitution C G intron_variant ORCA-IN 7 95153294 95153294 single base substitution C T intron_variant ORCA-IN 7 95155063 95155063 single base substitution T G intron_variant ORCA-IN 7 95166892 95166892 single base substitution G T missense_variant D368Y 1102G>T ORCA-IN 7 95172614 95172614 single base substitution G A downstream_gene_variant OV-AU 7 95113060 95113060 single base substitution G A intron_variant OV-AU 7 95113060 95113060 single base substitution G A upstream_gene_variant OV-AU 7 95113242 95113242 single base substitution A G intron_variant OV-AU 7 95113242 95113242 single base substitution A G upstream_gene_variant OV-AU 7 95113796 95113796 single base substitution G A intron_variant OV-AU 7 95113796 95113796 single base substitution G A upstream_gene_variant OV-AU 7 95114306 95114306 single base substitution A G intron_variant OV-AU 7 95114306 95114306 single base substitution A G upstream_gene_variant OV-AU 7 95120194 95120194 single base substitution C G intron_variant OV-AU 7 95127180 95127180 single base substitution C A downstream_gene_variant OV-AU 7 95127180 95127180 single base substitution C A intron_variant OV-AU 7 95128152 95128152 single base substitution G A downstream_gene_variant OV-AU 7 95128152 95128152 single base substitution G A intron_variant OV-AU 7 95137846 95137846 single base substitution C T intron_variant OV-AU 7 95140983 95140983 single base substitution A T intron_variant OV-AU 7 95143487 95143487 single base substitution T C intron_variant OV-AU 7 95144011 95144011 single base substitution C T intron_variant OV-AU 7 95146225 95146225 single base substitution C T intron_variant OV-AU 7 95151267 95151267 single base substitution A T intron_variant OV-AU 7 95153626 95153626 single base substitution C G intron_variant OV-AU 7 95155128 95155128 single base substitution A T intron_variant OV-AU 7 95157274 95157274 single base substitution G C missense_variant A213P 637G>C OV-AU 7 95157550 95157550 single base substitution G C missense_variant E305Q 913G>C OV-AU 7 95160269 95160269 single base substitution C A downstream_gene_variant OV-AU 7 95160269 95160269 single base substitution C A intron_variant OV-AU 7 95162362 95162362 single base substitution T C downstream_gene_variant OV-AU 7 95162362 95162362 single base substitution T C intron_variant OV-AU 7 95173262 95173262 single base substitution C T downstream_gene_variant PACA-AU 7 95103045 95103045 single base substitution A G upstream_gene_variant PACA-AU 7 95103826 95103826 deletion of <=200bp A - upstream_gene_variant PACA-AU 7 95104448 95104448 single base substitution G T upstream_gene_variant PACA-AU 7 95114306 95114306 single base substitution A G intron_variant PACA-AU 7 95114306 95114306 single base substitution A G upstream_gene_variant PACA-AU 7 95114342 95114342 single base substitution A G intron_variant PACA-AU 7 95114342 95114342 single base substitution A G upstream_gene_variant PACA-AU 7 95120074 95120074 single base substitution C T intron_variant PACA-AU 7 95123469 95123469 single base substitution C T intron_variant PACA-AU 7 95128342 95128342 single base substitution C T downstream_gene_variant PACA-AU 7 95128342 95128342 single base substitution C T intron_variant PACA-AU 7 95128384 95128384 single base substitution C T downstream_gene_variant PACA-AU 7 95128384 95128384 single base substitution C T intron_variant PACA-AU 7 95128437 95128437 single base substitution C T downstream_gene_variant PACA-AU 7 95128437 95128437 single base substitution C T intron_variant PACA-AU 7 95129343 95129343 single base substitution C T downstream_gene_variant PACA-AU 7 95129343 95129343 single base substitution C T intron_variant PACA-AU 7 95129525 95129525 single base substitution G T downstream_gene_variant PACA-AU 7 95129525 95129525 single base substitution G T intron_variant PACA-AU 7 95135046 95135046 single base substitution T C intron_variant PACA-AU 7 95135878 95135878 single base substitution T A intron_variant PACA-AU 7 95140577 95140577 single base substitution C A intron_variant PACA-AU 7 95140983 95140983 single base substitution A T intron_variant PACA-AU 7 95144475 95144475 single base substitution C T intron_variant PACA-AU 7 95145950 95145950 insertion of <=200bp - A intron_variant PACA-AU 7 95146755 95146755 single base substitution A T intron_variant PACA-AU 7 95147121 95147121 single base substitution A G intron_variant PACA-AU 7 95148417 95148417 single base substitution A C intron_variant PACA-AU 7 95150158 95150158 single base substitution C T intron_variant PACA-AU 7 95150668 95150668 single base substitution G A intron_variant PACA-AU 7 95153887 95153887 single base substitution C T intron_variant PACA-AU 7 95160355 95160355 single base substitution T G downstream_gene_variant PACA-AU 7 95160355 95160355 single base substitution T G intron_variant PACA-AU 7 95163384 95163384 single base substitution C T intron_variant PACA-AU 7 95164602 95164602 single base substitution G C intron_variant PACA-AU 7 95173037 95173037 single base substitution G A downstream_gene_variant PACA-CA 7 95104243 95104243 single base substitution T A upstream_gene_variant PACA-CA 7 95106491 95106491 single base substitution C T upstream_gene_variant PACA-CA 7 95106943 95106943 single base substitution C T upstream_gene_variant PACA-CA 7 95107500 95107500 single base substitution C T upstream_gene_variant PACA-CA 7 95108489 95108489 single base substitution T A intron_variant PACA-CA 7 95109777 95109787 deletion of <=200bp ATGATAGAAAC - intron_variant PACA-CA 7 95113991 95113991 single base substitution G T intron_variant PACA-CA 7 95113991 95113991 single base substitution G T upstream_gene_variant PACA-CA 7 95116733 95116733 deletion of <=200bp T - intron_variant PACA-CA 7 95122774 95122774 single base substitution C T intron_variant PACA-CA 7 95124368 95124368 single base substitution G A intron_variant PACA-CA 7 95126537 95126537 single base substitution A G downstream_gene_variant PACA-CA 7 95126537 95126537 single base substitution A G intron_variant PACA-CA 7 95131380 95131380 single base substitution C T intron_variant PACA-CA 7 95132259 95132259 single base substitution G A intron_variant PACA-CA 7 95134079 95134079 single base substitution C A intron_variant PACA-CA 7 95137072 95137072 single base substitution C G intron_variant PACA-CA 7 95137424 95137424 single base substitution T C intron_variant PACA-CA 7 95137645 95137645 single base substitution G C intron_variant PACA-CA 7 95138018 95138018 single base substitution A T intron_variant PACA-CA 7 95144703 95144703 single base substitution T C intron_variant PACA-CA 7 95145341 95145341 single base substitution C A intron_variant PACA-CA 7 95151707 95151707 single base substitution T A intron_variant PACA-CA 7 95152332 95152332 single base substitution G A intron_variant PACA-CA 7 95152492 95152492 single base substitution T G intron_variant PACA-CA 7 95154690 95154690 single base substitution T C intron_variant PACA-CA 7 95155148 95155148 single base substitution T C intron_variant PACA-CA 7 95157343 95157343 single base substitution C T missense_variant R236C 706C>T PACA-CA 7 95163625 95163625 single base substitution A C intron_variant PACA-CA 7 95165285 95165285 single base substitution G A intron_variant PACA-CA 7 95167164 95167164 single base substitution T A 3_prime_UTR_variant PACA-CA 7 95169342 95169342 single base substitution G A 3_prime_UTR_variant PACA-CA 7 95171038 95171038 single base substitution T A downstream_gene_variant PACA-CA 7 95171199 95171199 deletion of <=200bp T - downstream_gene_variant PACA-CA 7 95171447 95171453 deletion of <=200bp TGATAAA - downstream_gene_variant PACA-CA 7 95171731 95171731 single base substitution T G downstream_gene_variant PAEN-IT 7 95169284 95169284 single base substitution G A 3_prime_UTR_variant PBCA-DE 7 95104587 95104587 single base substitution T A upstream_gene_variant PBCA-DE 7 95106950 95106950 single base substitution C T upstream_gene_variant PBCA-DE 7 95107234 95107234 deletion of <=200bp T - upstream_gene_variant PBCA-DE 7 95115215 95115215 single base substitution G C 5_prime_UTR_variant PBCA-DE 7 95115215 95115215 single base substitution G C intron_variant PBCA-DE 7 95115740 95115740 single base substitution G A intron_variant PBCA-DE 7 95120696 95120696 single base substitution C T intron_variant PBCA-DE 7 95123169 95123169 single base substitution C A intron_variant PBCA-DE 7 95124245 95124245 single base substitution G C intron_variant PBCA-DE 7 95125652 95125652 single base substitution A G downstream_gene_variant PBCA-DE 7 95125652 95125652 single base substitution A G intron_variant PBCA-DE 7 95136304 95136304 single base substitution G A intron_variant PBCA-DE 7 95139439 95139439 insertion of <=200bp - A intron_variant PBCA-DE 7 95140975 95140975 deletion of <=200bp A - intron_variant PBCA-DE 7 95144632 95144632 single base substitution C T intron_variant PBCA-DE 7 95148053 95148053 single base substitution A G intron_variant PBCA-DE 7 95148522 95148522 single base substitution A G intron_variant PBCA-DE 7 95153912 95153912 single base substitution C T intron_variant PBCA-DE 7 95160741 95160741 single base substitution G A downstream_gene_variant PBCA-DE 7 95160741 95160741 single base substitution G A intron_variant PBCA-DE 7 95169011 95169011 single base substitution C G 3_prime_UTR_variant PBCA-DE 7 95171388 95171388 insertion of <=200bp - A downstream_gene_variant PRAD-CA 7 95124560 95124560 single base substitution G T intron_variant PRAD-CA 7 95140573 95140573 single base substitution G A intron_variant PRAD-CA 7 95143241 95143241 single base substitution C T intron_variant PRAD-CA 7 95144547 95144547 single base substitution C T intron_variant PRAD-CA 7 95144628 95144628 single base substitution T C intron_variant PRAD-CA 7 95144723 95144723 single base substitution C T intron_variant PRAD-CA 7 95159498 95159498 single base substitution T G downstream_gene_variant PRAD-CA 7 95159498 95159498 single base substitution T G intron_variant PRAD-CA 7 95163000 95163000 single base substitution C G downstream_gene_variant PRAD-CA 7 95163000 95163000 single base substitution C G intron_variant PRAD-CA 7 95170171 95170171 single base substitution G A downstream_gene_variant PRAD-CA 7 95174363 95174363 single base substitution C T downstream_gene_variant PRAD-UK 7 95103780 95103780 single base substitution G A upstream_gene_variant PRAD-UK 7 95106098 95106098 single base substitution C G upstream_gene_variant PRAD-UK 7 95108568 95108568 single base substitution C G intron_variant PRAD-UK 7 95132221 95132221 single base substitution A C intron_variant PRAD-UK 7 95134909 95134909 single base substitution G A intron_variant PRAD-UK 7 95139724 95139724 single base substitution C T intron_variant PRAD-UK 7 95149737 95149737 single base substitution T A intron_variant PRAD-UK 7 95152190 95152190 single base substitution G T intron_variant PRAD-UK 7 95156275 95156275 single base substitution G C intron_variant PRAD-UK 7 95158151 95158151 single base substitution C T downstream_gene_variant PRAD-UK 7 95158151 95158151 single base substitution C T intron_variant PRAD-UK 7 95170630 95170630 single base substitution G T downstream_gene_variant PRAD-UK 7 95174503 95174503 single base substitution C T downstream_gene_variant PRAD-US 7 95157409 95157409 single base substitution A G missense_variant K258E 772A>G READ-US 7 95115466 95115466 single base substitution A G intron_variant READ-US 7 95115466 95115466 single base substitution A G synonymous_variant K61K 183A>G RECA-EU 7 95108546 95108546 single base substitution G C intron_variant RECA-EU 7 95121420 95121420 single base substitution G C intron_variant RECA-EU 7 95121594 95121594 single base substitution G A intron_variant RECA-EU 7 95121595 95121595 single base substitution C T intron_variant RECA-EU 7 95125437 95125437 single base substitution C G exon_variant RECA-EU 7 95125437 95125437 single base substitution C G intron_variant RECA-EU 7 95127902 95127902 single base substitution A G downstream_gene_variant RECA-EU 7 95127902 95127902 single base substitution A G intron_variant RECA-EU 7 95130544 95130544 single base substitution T C intron_variant RECA-EU 7 95140138 95140138 single base substitution G T intron_variant RECA-EU 7 95140139 95140139 single base substitution A G intron_variant RECA-EU 7 95140298 95140298 single base substitution T C intron_variant RECA-EU 7 95155983 95155983 single base substitution A T intron_variant RECA-EU 7 95166122 95166122 single base substitution C T intron_variant RECA-EU 7 95174415 95174415 single base substitution C G downstream_gene_variant SKCA-BR 7 95107560 95107560 single base substitution C T upstream_gene_variant SKCA-BR 7 95108095 95108095 single base substitution C T intron_variant SKCA-BR 7 95108617 95108617 single base substitution G A intron_variant SKCA-BR 7 95109787 95109787 single base substitution C T intron_variant SKCA-BR 7 95111924 95111924 single base substitution G C intron_variant SKCA-BR 7 95111924 95111924 single base substitution G C upstream_gene_variant SKCA-BR 7 95111925 95111925 single base substitution G T intron_variant SKCA-BR 7 95111925 95111925 single base substitution G T upstream_gene_variant SKCA-BR 7 95112268 95112268 single base substitution C T intron_variant SKCA-BR 7 95112268 95112268 single base substitution C T upstream_gene_variant SKCA-BR 7 95113196 95113198 deletion of <=200bp AGT - intron_variant SKCA-BR 7 95113196 95113198 deletion of <=200bp AGT - upstream_gene_variant SKCA-BR 7 95113338 95113338 insertion of <=200bp - TA intron_variant SKCA-BR 7 95113338 95113338 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 7 95115270 95115270 single base substitution G A 5_prime_UTR_variant SKCA-BR 7 95115270 95115270 single base substitution G A intron_variant SKCA-BR 7 95117701 95117701 single base substitution C T intron_variant SKCA-BR 7 95117703 95117703 single base substitution A G intron_variant SKCA-BR 7 95119016 95119016 single base substitution A G intron_variant SKCA-BR 7 95120046 95120046 single base substitution C T intron_variant SKCA-BR 7 95120125 95120125 single base substitution C T intron_variant SKCA-BR 7 95121441 95121441 single base substitution C T intron_variant SKCA-BR 7 95123827 95123827 single base substitution A T intron_variant SKCA-BR 7 95124310 95124310 single base substitution G A intron_variant SKCA-BR 7 95125725 95125725 single base substitution C T downstream_gene_variant SKCA-BR 7 95125725 95125725 single base substitution C T intron_variant SKCA-BR 7 95126745 95126745 single base substitution C T downstream_gene_variant SKCA-BR 7 95126745 95126745 single base substitution C T intron_variant SKCA-BR 7 95128035 95128035 single base substitution C T downstream_gene_variant SKCA-BR 7 95128035 95128035 single base substitution C T intron_variant SKCA-BR 7 95129166 95129166 single base substitution G A downstream_gene_variant SKCA-BR 7 95129166 95129166 single base substitution G A intron_variant SKCA-BR 7 95129216 95129216 single base substitution C T downstream_gene_variant SKCA-BR 7 95129216 95129216 single base substitution C T intron_variant SKCA-BR 7 95132216 95132216 single base substitution G A intron_variant SKCA-BR 7 95133605 95133605 single base substitution G A intron_variant SKCA-BR 7 95133760 95133760 single base substitution C A intron_variant SKCA-BR 7 95134329 95134329 single base substitution G A intron_variant SKCA-BR 7 95134472 95134472 single base substitution G A intron_variant SKCA-BR 7 95134692 95134692 single base substitution G A intron_variant SKCA-BR 7 95135998 95135999 deletion of <=200bp CT - intron_variant SKCA-BR 7 95136250 95136250 single base substitution C T intron_variant SKCA-BR 7 95137238 95137238 single base substitution G A intron_variant SKCA-BR 7 95137588 95137588 single base substitution G A intron_variant SKCA-BR 7 95139388 95139388 single base substitution C T intron_variant SKCA-BR 7 95139710 95139710 single base substitution C T intron_variant SKCA-BR 7 95142553 95142554 deletion of <=200bp TG - intron_variant SKCA-BR 7 95142561 95142561 single base substitution G T intron_variant SKCA-BR 7 95144077 95144077 single base substitution G A intron_variant SKCA-BR 7 95144138 95144138 single base substitution T C intron_variant SKCA-BR 7 95144479 95144495 deletion of <=200bp CTCTTTCTTTCTTTCTT - intron_variant SKCA-BR 7 95144547 95144547 single base substitution C T intron_variant SKCA-BR 7 95144624 95144624 insertion of <=200bp - TCTTC intron_variant SKCA-BR 7 95144628 95144628 insertion of <=200bp - TCTTTCTTC intron_variant SKCA-BR 7 95144723 95144723 single base substitution C T intron_variant SKCA-BR 7 95145076 95145076 single base substitution C T intron_variant SKCA-BR 7 95145077 95145077 single base substitution C T intron_variant SKCA-BR 7 95145452 95145452 single base substitution C T intron_variant SKCA-BR 7 95146364 95146364 single base substitution C T intron_variant SKCA-BR 7 95148310 95148310 single base substitution G A intron_variant SKCA-BR 7 95148400 95148400 single base substitution G A intron_variant SKCA-BR 7 95148993 95148993 single base substitution A C intron_variant SKCA-BR 7 95149420 95149420 single base substitution G A intron_variant SKCA-BR 7 95150467 95150467 single base substitution C T intron_variant SKCA-BR 7 95150668 95150668 single base substitution G A intron_variant SKCA-BR 7 95150980 95150980 single base substitution C T intron_variant SKCA-BR 7 95153810 95153811 deletion of <=200bp TA - intron_variant SKCA-BR 7 95155650 95155650 single base substitution C T intron_variant SKCA-BR 7 95157961 95157961 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 95157961 95157961 single base substitution G A intron_variant SKCA-BR 7 95158604 95158604 single base substitution C T downstream_gene_variant SKCA-BR 7 95158604 95158604 single base substitution C T intron_variant SKCA-BR 7 95160708 95160708 single base substitution C T downstream_gene_variant SKCA-BR 7 95160708 95160708 single base substitution C T intron_variant SKCA-BR 7 95161437 95161437 single base substitution C T downstream_gene_variant SKCA-BR 7 95161437 95161437 single base substitution C T intron_variant SKCA-BR 7 95162769 95162769 single base substitution C T downstream_gene_variant SKCA-BR 7 95162769 95162769 single base substitution C T intron_variant SKCA-BR 7 95162779 95162779 single base substitution C T downstream_gene_variant SKCA-BR 7 95162779 95162779 single base substitution C T intron_variant SKCA-BR 7 95163384 95163384 insertion of <=200bp - CGGTGGCCA intron_variant SKCA-BR 7 95163984 95163984 single base substitution A G intron_variant SKCA-BR 7 95165274 95165274 single base substitution C T intron_variant SKCA-BR 7 95165474 95165474 single base substitution C T intron_variant SKCA-BR 7 95165681 95165681 single base substitution C G intron_variant SKCA-BR 7 95167014 95167014 single base substitution C T synonymous_variant S408S 1224C>T SKCA-BR 7 95167258 95167258 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 95168477 95168477 single base substitution T G 3_prime_UTR_variant SKCA-BR 7 95169163 95169163 single base substitution A G 3_prime_UTR_variant SKCA-BR 7 95169490 95169490 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 95170406 95170406 single base substitution G A downstream_gene_variant SKCA-BR 7 95171551 95171551 single base substitution G A downstream_gene_variant SKCA-BR 7 95172392 95172392 single base substitution C T downstream_gene_variant SKCA-BR 7 95174350 95174350 insertion of <=200bp - CTT downstream_gene_variant SKCM-US 7 95115312 95115312 single base substitution A T intron_variant SKCM-US 7 95115312 95115312 single base substitution A T missense_variant K10I 29A>T SKCM-US 7 95115410 95115410 single base substitution G A intron_variant SKCM-US 7 95115410 95115410 single base substitution G A missense_variant D43N 127G>A SKCM-US 7 95115433 95115433 single base substitution C T intron_variant SKCM-US 7 95115433 95115433 single base substitution C T synonymous_variant V50V 150C>T SKCM-US 7 95157127 95157127 single base substitution G A missense_variant A164T 490G>A SKCM-US 7 95157196 95157196 single base substitution C T missense_variant L187F 559C>T SKCM-US 7 95157616 95157616 single base substitution G A missense_variant V327M 979G>A SKCM-US 7 95157616 95157616 single base substitution G A splice_donor_variant SKCM-US 7 95167003 95167003 single base substitution C T missense_variant P405S 1213C>T SKCM-US 7 95167013 95167013 single base substitution C T missense_variant S408F 1223C>T STAD-US 7 95157128 95157128 single base substitution C T missense_variant A164V 491C>T STAD-US 7 95157167 95157167 single base substitution C T missense_variant T177M 530C>T STAD-US 7 95157168 95157168 single base substitution G A synonymous_variant T177T 531G>A STAD-US 7 95157219 95157219 single base substitution C T synonymous_variant Y194Y 582C>T STAD-US 7 95157511 95157511 single base substitution G A missense_variant V292M 874G>A STAD-US 7 95165756 95165756 single base substitution A G missense_variant Q329R 986A>G STAD-US 7 95167036 95167036 single base substitution T C missense_variant Y416H 1246T>C UCEC-US 7 95115339 95115339 single base substitution G T intron_variant UCEC-US 7 95115339 95115339 single base substitution G T missense_variant R19I 56G>T UCEC-US 7 95125241 95125241 single base substitution T C exon_variant UCEC-US 7 95125241 95125241 single base substitution T C missense_variant V120A 359T>C UCEC-US 7 95125325 95125325 single base substitution C T exon_variant UCEC-US 7 95125325 95125325 single base substitution C T missense_variant T148I 443C>T UCEC-US 7 95157343 95157343 single base substitution C T missense_variant R236C 706C>T UCEC-US 7 95157367 95157367 single base substitution G A missense_variant E244K 730G>A UCEC-US 7 95157466 95157466 single base substitution G A missense_variant E277K 829G>A UCEC-US 7 95166903 95166904 deletion of <=200bp CT - frameshift_variant HS371 UCEC-US 7 95166954 95166954 single base substitution G A synonymous_variant S388S 1164G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LAU63 COSM231804 c.670G>A p.E224K Substitution - Missense 7:95527995-95527995 + PT55 COSM5942104 c.334C>T p.H112Y Substitution - Missense 7:95495904-95495904 + TCGA-CK-4951-01 COSM5146279 c.1103_1104insT p.Y370fs*10 Insertion - Frameshift 7:95537581-95537582 + TCGA-GF-A6C8-06 COSM3924295 c.978+1G>A p.? Unknown 7:95528304-95528304 + CSCC-15-T COSM3642579 c.127G>A p.D43N Substitution - Missense 7:95486098-95486098 + sysucc-923T COSM5463969 c.200C>G p.P67R Substitution - Missense 7:95495770-95495770 + TCGA-GC-A3I6-01 COSM1313449 c.1024G>A p.V342I Substitution - Missense 7:95536482-95536482 + TCGA-D7-8578-01 COSM3883562 c.874G>A p.V292M Substitution - Missense 7:95528199-95528199 + TCGA-QB-A6FS-06 COSM748419 c.1213C>T p.P405S Substitution - Missense 7:95537691-95537691 + TCGA-CA-6716-01 COSM1453036 c.408C>T p.Y136Y Substitution - coding silent 7:95495978-95495978 + TCGA-JL-A3YW-01 COSM3833533 c.652T>C p.W218R Substitution - Missense 7:95527977-95527977 + HOP-62 COSM1673318 c.676G>T p.E226* Substitution - Nonsense 7:95528001-95528001 + ESCC_124 COSM5641032 c.1046G>A p.R349K Substitution - Missense 7:95536504-95536504 + TCGA-D5-6927-01 COSM5165202 c.287A>G p.D96G Substitution - Missense 7:95495857-95495857 + Pat_41_B COSM5873428 c.187+1G>A p.? Unknown 7:95486159-95486159 + TCGA-BS-A0UV-01 COSM1093353 c.359T>C p.V120A Substitution - Missense 7:95495929-95495929 + 587376 COSM1183739 c.785A>G p.N262S Substitution - Missense 7:95528110-95528110 + RK308_C01 COSM3768580 c.386G>A p.R129H Substitution - Missense 7:95495956-95495956 + TCGA-AA-A010-01 COSM278997 c.1081G>T p.D361Y Substitution - Missense 7:95536539-95536539 + TCGA-G4-6304-01 COSM294145 c.531G>A p.T177T Substitution - coding silent 7:95527856-95527856 + 13280 COSM5615906 c.99G>T p.L33F Substitution - Missense 7:95486070-95486070 + PT48 COSM5931954 c.7G>A p.G3S Substitution - Missense 7:95485978-95485978 + NCI-H460 COSM1673319 c.1030G>T p.A344S Substitution - Missense 7:95536488-95536488 + YUPRO COSM1698944 c.289C>T p.H97Y Substitution - Missense 7:95495859-95495859 + PT34 COSM5910552 c.625G>A p.E209K Substitution - Missense 7:95527950-95527950 + ESCC_143 COSM5644425 c.638C>T p.A213V Substitution - Missense 7:95527963-95527963 + TCGA-66-2773-01 COSM748421 c.1200C>A p.C400* Substitution - Nonsense 7:95537678-95537678 + PT50 COSM4989390 c.80C>T p.S27F Substitution - Missense 7:95486051-95486051 + B81-2-Tumor COSM1755441 c.1150C>T p.L384F Substitution - Missense 7:95537628-95537628 + ESCC_BICR_052T COSM5434751 c.199C>A p.P67T Substitution - Missense 7:95495769-95495769 + TCGA-CJ-5679-01 COSM485767 c.897C>T p.R299R Substitution - coding silent 7:95528222-95528222 + TCGA-B5-A0JY-01 COSM1093352 c.56G>T p.R19I Substitution - Missense 7:95486027-95486027 + CSCC-62-T COSM4455901 c.94A>T p.K32* Substitution - Nonsense 7:95486065-95486065 + TCGA-BR-4184-01 COSM3883555 c.491C>T p.A164V Substitution - Missense 7:95527816-95527816 + TCGA-AP-A059-01 COSM1093354 c.443C>T p.T148I Substitution - Missense 7:95496013-95496013 + TCGA-D3-A51R-06 COSM3642587 c.1223C>T p.S408F Substitution - Missense 7:95537701-95537701 + CSCC-37-T COSM4513801 c.951C>T p.A317A Substitution - coding silent 7:95528276-95528276 + TCGA-60-2726-01 COSM748422 c.635T>C p.L212P Substitution - Missense 7:95527960-95527960 + TCGA-18-3409-01 COSM748419 c.1213C>T p.P405S Substitution - Missense 7:95537691-95537691 + TCGA-BS-A0UV-01 COSM1093356 c.829G>A p.E277K Substitution - Missense 7:95528154-95528154 + 4000_T COSM3950992 c.492G>T p.A164A Substitution - coding silent 7:95527817-95527817 + 587222 COSM1183737 c.998C>A p.S333Y Substitution - Missense 7:95536456-95536456 + TCGA-BR-7707-01 COSM3883565 c.1246T>C p.Y416H Substitution - Missense 7:95537724-95537724 + AOCS-139-12-5 COSM4149428 c.637G>C p.A213P Substitution - Missense 7:95527962-95527962 + cSCCP1 COSM134221 c.586G>A p.E196K Substitution - Missense 7:95527911-95527911 + SNU-C4 COSM4654292 c.646G>A p.A216T Substitution - Missense 7:95527971-95527971 + ESCC_170 COSM5649558 c.702C>G p.V234V Substitution - coding silent 7:95528027-95528027 + HCA7 COSM4612221 c.629delC p.L212fs*59 Deletion - Frameshift 7:95527954-95527954 + ESCC_BICR_042T COSM5443877 c.1053C>T p.N351N Substitution - coding silent 7:95536511-95536511 + TCGA-AP-A056-01 COSM1093355 c.730G>A p.E244K Substitution - Missense 7:95528055-95528055 + AOCS-139-6-3 COSM4149428 c.637G>C p.A213P Substitution - Missense 7:95527962-95527962 + TCGA-C5-A1MF-01 COSM4820689 c.583G>A p.V195M Substitution - Missense 7:95527908-95527908 + TCGA-BR-4184-01 COSM294145 c.531G>A p.T177T Substitution - coding silent 7:95527856-95527856 + PT48 COSM5931952 c.8G>A p.G3D Substitution - Missense 7:95485979-95485979 + PCSI_0017_Pa_X COSM216800 c.706C>T p.R236C Substitution - Missense 7:95528031-95528031 + TCGA-EE-A2A5-06 COSM3642581 c.150C>T p.V50V Substitution - coding silent 7:95486121-95486121 + TCGA-EE-A29A-06 COSM3642577 c.29A>T p.K10I Substitution - Missense 7:95486000-95486000 + TCGA-D1-A103-01 COSM1093352 c.56G>T p.R19I Substitution - Missense 7:95486027-95486027 + SMS-CTR COSM4989390 c.80C>T p.S27F Substitution - Missense 7:95486051-95486051 + TCGA-EE-A2GU-06 COSM3642587 c.1223C>T p.S408F Substitution - Missense 7:95537701-95537701 + PD6722a COSM5778807 c.358G>C p.V120L Substitution - Missense 7:95495928-95495928 + TCGA-66-2773-01 COSM748423 c.577T>A p.F193I Substitution - Missense 7:95527902-95527902 + S0057 COSM5884609 c.233G>A p.G78D Substitution - Missense 7:95495803-95495803 + TCGA-AA-3510-01 COSM5100068 c.492G>A p.A164A Substitution - coding silent 7:95527817-95527817 + CSCC-60-T COSM4459272 c.1119C>T p.L373L Substitution - coding silent 7:95537597-95537597 + TCGA-EE-A2M5-06 COSM3642583 c.490G>A p.A164T Substitution - Missense 7:95527815-95527815 + Br27P COSM39852 c.644C>T p.A215V Substitution - Missense 7:95527969-95527969 + TARGET-30-PAPTJB COSM1283529 c.953G>T p.R318L Substitution - Missense 7:95528278-95528278 + TCGA-AA-3492-01 COSM1453038 c.913G>C p.E305Q Substitution - Missense 7:95528238-95528238 + AOCS-161-1-9 COSM1453038 c.913G>C p.E305Q Substitution - Missense 7:95528238-95528238 + CT-TC COSM4989390 c.80C>T p.S27F Substitution - Missense 7:95486051-95486051 + TCGA-G3-A7M7-01 COSM3883560 c.582C>T p.Y194Y Substitution - coding silent 7:95527907-95527907 + TCGA-28-5215-01 COSM3412514 c.75A>G p.L25L Substitution - coding silent 7:95486046-95486046 + PT48 COSM5931956 c.385C>T p.R129C Substitution - Missense 7:95495955-95495955 + CSCC-20-T COSM4524363 c.1268G>A p.G423E Substitution - Missense 7:95537746-95537746 + TARGET-20-PARZUU-09A-01D COSM5487651 c.727G>A p.A243T Substitution - Missense 7:95528052-95528052 + ESCC_44 COSM5630192 c.892G>A p.V298M Substitution - Missense 7:95528217-95528217 + TCGA-H4-A2HO-01 COSM1313448 c.801C>T p.L267L Substitution - coding silent 7:95528126-95528126 + TARGET-30-PARMPP COSM1283530 c.1066A>G p.R356G Substitution - Missense 7:95536524-95536524 + LUAD-B01970 COSM356212 c.100A>G p.K34E Substitution - Missense 7:95486071-95486071 + 587336 COSM1183738 c.415A>C p.S139R Substitution - Missense 7:95495985-95495985 + CSCC-32-T COSM4539140 c.264G>A p.V88V Substitution - coding silent 7:95495834-95495834 + 7313 COSM5615908 c.1200C>G p.C400W Substitution - Missense 7:95537678-95537678 + CSCC-45-T COSM4503107 c.630C>T p.T210T Substitution - coding silent 7:95527955-95527955 + CSCC-19-T COSM4458207 c.1076C>T p.P359L Substitution - Missense 7:95536534-95536534 + TCGA-FS-A4F5-06 COSM3642579 c.127G>A p.D43N Substitution - Missense 7:95486098-95486098 + PT44 COSM2865558 c.637G>A p.A213T Substitution - Missense 7:95527962-95527962 + TCGA-E7-A3X6-01 COSM3778709 c.1084G>A p.D362N Substitution - Missense 7:95536542-95536542 + UMC11 COSM2865573 c.1068A>T p.R356S Substitution - Missense 7:95536526-95536526 + TCGA-HU-A4H8-01 COSM3883560 c.582C>T p.Y194Y Substitution - coding silent 7:95527907-95527907 + TCGA-EI-6917-01 COSM3431905 c.183A>G p.K61K Substitution - coding silent 7:95486154-95486154 + 3402_T COSM3950995 c.855C>T p.G285G Substitution - coding silent 7:95528180-95528180 + PT08_1 COSM5893213 c.1050G>A p.W350* Substitution - Nonsense 7:95536508-95536508 + TCGA-AA-3510-01 COSM1453037 c.471G>A p.K157K Substitution - coding silent 7:95496041-95496041 + T3058 COSM4663653 c.495T>A p.N165K Substitution - Missense 7:95527820-95527820 + HCC2998 COSM1673317 c.329C>A p.P110H Substitution - Missense 7:95495899-95495899 + PD7219a COSM5775106 c.998C>G p.S333C Substitution - Missense 7:95536456-95536456 + TCGA-22-4595-01 COSM748420 c.1210A>T p.I404F Substitution - Missense 7:95537688-95537688 + CHC902T COSM3642581 c.150C>T p.V50V Substitution - coding silent 7:95486121-95486121 + YUZINO COSM1698945 c.455C>T p.S152F Substitution - Missense 7:95496025-95496025 + NCI-H720 COSM2865557 c.599T>G p.I200R Substitution - Missense 7:95527924-95527924 + CSCC-30-T COSM1093358 c.1164G>A p.S388S Substitution - coding silent 7:95537642-95537642 + B81-2 COSM1755441 c.1150C>T p.L384F Substitution - Missense 7:95537628-95537628 + LUAD-NYU284 COSM373282 c.1022T>C p.V341A Substitution - Missense 7:95536480-95536480 + YUPRO COSM1698946 c.1069G>A p.A357T Substitution - Missense 7:95536527-95536527 + TCGA-AC-A5XS-01 COSM4390703 c.151G>C p.E51Q Substitution - Missense 7:95486122-95486122 + TCGA-EE-A181-06 COSM3642585 c.559C>T p.L187F Substitution - Missense 7:95527884-95527884 + Au3 COSM5601054 c.925C>T p.Q309* Substitution - Nonsense 7:95528250-95528250 + TCGA-AP-A0LM-01 COSM1093358 c.1164G>A p.S388S Substitution - coding silent 7:95537642-95537642 + CSCC-62-T COSM4364398 c.1074C>T p.I358I Substitution - coding silent 7:95536532-95536532 + TCGA-CH-5769-01 COSM1132907 c.772A>G p.K258E Substitution - Missense 7:95528097-95528097 + ESCC-003T COSM3942399 c.314C>A p.P105H Substitution - Missense 7:95495884-95495884 + Patient_5 COSM5414600 c.564G>A p.S188S Substitution - coding silent 7:95527889-95527889 + OSCC-GB_00140111 COSM3715862 c.1102G>T p.D368Y Substitution - Missense 7:95537580-95537580 + TCGA-FD-A3SP-01 COSM3768580 c.386G>A p.R129H Substitution - Missense 7:95495956-95495956 + S01297 COSM5667764 c.509C>T p.T170I Substitution - Missense 7:95527834-95527834 + PASFXA COSM5005915 c.309T>C p.C103C Substitution - coding silent 7:95495879-95495879 + TCGA-HU-A4GU-01 COSM3883557 c.530C>T p.T177M Substitution - Missense 7:95527855-95527855 + ESCC-008T COSM3942401 c.315C>T p.P105P Substitution - coding silent 7:95495885-95495885 + TCGA-AA-3821-01 COSM294145 c.531G>A p.T177T Substitution - coding silent 7:95527856-95527856 + CSCC-40-T COSM4542608 c.321G>A p.G107G Substitution - coding silent 7:95495891-95495891 + PCSI_0017_Pa_P COSM216800 c.706C>T p.R236C Substitution - Missense 7:95528031-95528031 + 587376 COSM176243 c.460C>A p.L154I Substitution - Missense 7:95496030-95496030 + DLD1 COSM2865561 c.711G>A p.M237I Substitution - Missense 7:95528036-95528036 + 18 COSM5011805 c.160A>T p.N54Y Substitution - Missense 7:95486131-95486131 + CRC-06T COSM5457357 c.1174A>G p.I392V Substitution - Missense 7:95537652-95537652 + TCGA-43-5668-01 COSM748424 c.423C>A p.H141Q Substitution - Missense 7:95495993-95495993 + TCGA-AX-A06H-01 COSM1093357 c.1113_1114delCT p.F374fs*5 Deletion - Frameshift 7:95537591-95537592 + HCC159T COSM3663415 c.1202A>G p.H401R Substitution - Missense 7:95537680-95537680 + pfg043T COSM4758985 c.88T>G p.F30V Substitution - Missense 7:95486059-95486059 + TCGA-CG-4437-01 COSM3883564 c.986A>G p.Q329R Substitution - Missense 7:95536444-95536444 + 91603 COSM329150 c.176C>T p.S59F Substitution - Missense 7:95486147-95486147 + ESO-173 COSM1245536 c.978+7C>T p.? Unknown 7:95528310-95528310 + 522_T COSM39852 c.644C>T p.A215V Substitution - Missense 7:95527969-95527969 + P157 COSM1737634 c.151G>A p.E51K Substitution - Missense 7:95486122-95486122 + C086 COSM5527006 c.1122T>C p.F374F Substitution - coding silent 7:95537600-95537600 + PT17_1 COSM5898914 c.410C>T p.S137F Substitution - Missense 7:95495980-95495980 + TCGA-AB-2864-03 COSM1319782 c.187+2T>G p.? Unknown 7:95486160-95486160 + T2769 COSM2865574 c.1163C>T p.S388L Substitution - Missense 7:95537641-95537641 + TCGA-DU-7306-01 COSM3929274 c.1006A>G p.K336E Substitution - Missense 7:95536464-95536464 + LP6005334-DNA_D03 COSM5953169 c.1152C>G p.L384L Substitution - coding silent 7:95537630-95537630 + TCGA-61-2614-01 COSM1330446 c.128A>G p.D43G Substitution - Missense 7:95486099-95486099 + CHC902T COSM3642581 c.150C>T p.V50V Substitution - coding silent 7:95486121-95486121 + ATL053 COSM5710753 c.992G>A p.C331Y Substitution - Missense 7:95536450-95536450 + TCGA-DI-A0WH-01 COSM216800 c.706C>T p.R236C Substitution - Missense 7:95528031-95528031 + PDA_063 COSM5001238 c.1248C>A p.Y416* Substitution - Nonsense 7:95537726-95537726 + TCGA-34-5928-01 COSM748425 c.145G>C p.E49Q Substitution - Missense 7:95486116-95486116 + HCC159 COSM3663415 c.1202A>G p.H401R Substitution - Missense 7:95537680-95537680 + TCGA-GL-6846-01 COSM3995762 c.382G>A p.D128N Substitution - Missense 7:95495952-95495952 + 489 COSM3720882 c.828C>A p.A276A Substitution - coding silent 7:95528153-95528153 + HCT15 COSM2865561 c.711G>A p.M237I Substitution - Missense 7:95528036-95528036 + PT08_2 COSM5893213 c.1050G>A p.W350* Substitution - Nonsense 7:95536508-95536508 + OSCC-GB_00960111 COSM4885466 c.187G>A p.G63S Substitution - Missense 7:95486158-95486158 + LUAD-VUMN6 COSM348123 c.616G>C p.A206P Substitution - Missense 7:95527941-95527941 + TCGA-BW-A5NO-01 COSM4933239 c.31T>C p.S11P Substitution - Missense 7:95486002-95486002 + KM12 COSM2865562 c.729C>T p.A243A Substitution - coding silent 7:95528054-95528054 + 14T COSM3715862 c.1102G>T p.D368Y Substitution - Missense 7:95537580-95537580 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.602758;Hs.602760;Hs.602761;Hs.602763;Hs.602764;Hs.602765 7q21-q22 605761 Hs.737518 7q21-q22 605761

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K336E c.1006A>G 7 95165776 LGG A G Missense p.Q329R c.986A>G 7 95165756 STAD A G Missense p.R356G c.1066A>G 7 95165836 NB A G Synonymous p.L25L c.75A>G 7 95115358 GBM A T Missense p.I404F c.1210A>T 7 95167000 LUSC A T Missense p.K10I c.29A>T 7 95115312 CM C A Missense p.H141Q c.423C>A 7 95125305 LUSC C A Nonsense p.C400* c.1200C>A 7 95166990 LUSC C A Synonymous p.A276A c.828C>A 7 95157465 HNSC C G IntronicSNV . c.487+6387C>G 7 95131756 CLL C G Missense p.C400W c.1200C>G 7 95166990 NSCLC CT - Frameshift p.F374Yfs*5 c.1119_1120delCT 7 95166903 UCEC C T IntronicSNV . c.978+113C>T 7 95157728 CM C T IntronicSNV . c.978+7C>T 7 95157622 ESCA C T Missense p.A215V c.644C>T 7 95157281 GBM C T Missense p.L187F c.559C>T 7 95157196 CM C T Missense p.R236C c.706C>T 7 95157343 PAAD C T Missense p.R236C c.706C>T 7 95157343 UCEC C T Missense p.S408F c.1223C>T 7 95167013 CM C T Synonymous p.I214I c.642C>T 7 95157279 CM C T Synonymous p.L212L c.634C>T 7 95157271 LUAD C T Synonymous p.L267L c.801C>T 7 95157438 BLCA C T Synonymous p.R299R c.897C>T 7 95157534 RCCC C T Synonymous p.V50V c.150C>T 7 95115433 CM G A 3-UTRSNV . c.1278+190G>A 7 95167258 CM G A 5-UTRSNV . c.1-11G>A 7 95115273 CM G A Missense p.A164T c.490G>A 7 95157127 CM G A Missense p.G107R c.319G>A 7 95125201 CM G A Missense p.G423R c.1267G>A 7 95167057 CM G A Missense p.R19K c.56G>A 7 95115339 CM G A Missense p.V342I c.1024G>A 7 95165794 BLCA G C 5-UTRSNV . c.1-69G>C 7 95115215 MB G C Missense p.E49Q c.145G>C 7 95115428 LUSC G C Missense p.V295L c.883G>C 7 95157520 HNSC G C Missense p.W261C c.783G>C 7 95157420 HNSC G T Missense p.A118S c.352G>T 7 95125234 LUAD G T Missense p.R318L c.953G>T 7 95157590 NB T A Missense p.F193I c.577T>A 7 95157214 LUSC T C Missense p.L212P c.635T>C 7 95157272 LUSC T G SpliceDonorSNV . c.187+2T>G 7 95115472 AML