Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 27935029 27935029 + Silent SNP G G A TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr17:27935029G>A c.276G>A c.(274-276)cgG>cgA p.R92R BLCA 17 27937754 27937754 + Missense_Mutation SNP C C A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:27937754C>A c.874C>A c.(874-876)Ctt>Att p.L292I BRCA 17 27934851 27934851 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 g.chr17:27934851C>T c.206C>T c.(205-207)gCg>gTg p.A69V CESC 17 27936291 27936291 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 g.chr17:27936291G>C c.753G>C c.(751-753)gaG>gaC p.E251D CESC 17 27938969 27938969 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr17:27938969G>C c.1045G>C c.(1045-1047)Gag>Cag p.E349Q CESC 17 27939913 27939913 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:27939913C>T c.1584C>T c.(1582-1584)atC>atT p.I528I CESC 17 27940575 27940575 + Missense_Mutation SNP T T A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr17:27940575T>A c.1856T>A c.(1855-1857)cTg>cAg p.L619Q COAD 17 27935076 27935076 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:27935076G>A c.323G>A c.(322-324)cGg>cAg p.R108Q COAD 17 27936394 27936394 + Silent SNP C C A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:27936394C>A c.777C>A c.(775-777)ggC>ggA p.G259G COAD 17 27938644 27938644 + Frame_Shift_Del DEL G G - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:27938644delG c.952delG c.(952-954)gggfs p.G319fs COAD 17 27938978 27938978 + Missense_Mutation SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:27938978A>G c.1054A>G c.(1054-1056)Aac>Gac p.N352D COADREAD 17 27935076 27935076 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:27935076G>A c.323G>A c.(322-324)cGg>cAg p.R108Q COADREAD 17 27936394 27936394 + Silent SNP C C A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:27936394C>A c.777C>A c.(775-777)ggC>ggA p.G259G COADREAD 17 27938644 27938644 + Frame_Shift_Del DEL G G - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:27938644delG c.952delG c.(952-954)gggfs p.G319fs COADREAD 17 27938978 27938978 + Missense_Mutation SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:27938978A>G c.1054A>G c.(1054-1056)Aac>Gac p.N352D DLBC 17 27939427 27939427 + Silent SNP G G C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:27939427G>C c.1266G>C c.(1264-1266)ccG>ccC p.P422P GBM 17 27939203 27939203 + Silent SNP T T A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 g.chr17:27939203T>A c.1170T>A c.(1168-1170)atT>atA p.I390I GBM 17 27939701 27939701 + Silent SNP G G A TCGA-06-6701-01A-11D-1845-08 TCGA-06-6701-10A-01D-1845-08 g.chr17:27939701G>A c.1443G>A c.(1441-1443)gcG>gcA p.A481A GBMLGG 17 27934865 27934865 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27934865G>A c.220G>A c.(220-222)Gtg>Atg p.V74M GBMLGG 17 27939203 27939203 + Silent SNP T T A TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 g.chr17:27939203T>A c.1170T>A c.(1168-1170)atT>atA p.I390I GBMLGG 17 27939276 27939276 + Missense_Mutation SNP T T G TCGA-HT-A616-01A-11D-A29Q-08 TCGA-HT-A616-10A-01D-A29Q-08 g.chr17:27939276T>G c.1243T>G c.(1243-1245)Ttc>Gtc p.F415V GBMLGG 17 27939446 27939446 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27939446G>A c.1285G>A c.(1285-1287)Gcc>Acc p.A429T GBMLGG 17 27939701 27939701 + Silent SNP G G A TCGA-06-6701-01A-11D-1845-08 TCGA-06-6701-10A-01D-1845-08 g.chr17:27939701G>A c.1443G>A c.(1441-1443)gcG>gcA p.A481A HNSC 17 27937744 27937744 + Silent SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chr17:27937744G>A c.864G>A c.(862-864)cgG>cgA p.R288R LGG 17 27934865 27934865 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27934865G>A c.220G>A c.(220-222)Gtg>Atg p.V74M LGG 17 27939276 27939276 + Missense_Mutation SNP T T G TCGA-HT-A616-01A-11D-A29Q-08 TCGA-HT-A616-10A-01D-A29Q-08 g.chr17:27939276T>G c.1243T>G c.(1243-1245)Ttc>Gtc p.F415V LGG 17 27939446 27939446 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27939446G>A c.1285G>A c.(1285-1287)Gcc>Acc p.A429T LIHC 17 27920706 27920706 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr17:27920706T>C c.67T>C c.(67-69)Tgg>Cgg p.W23R LIHC 17 27939496 27939496 + Silent SNP G G A TCGA-DD-AAW0-01A-11D-A40R-10 TCGA-DD-AAW0-10A-01D-A40U-10 g.chr17:27939496G>A c.1335G>A c.(1333-1335)tcG>tcA p.S445S LIHC 17 27940598 27940598 + Nonstop_Mutation SNP T T C TCGA-GJ-A6C0-01A-12D-A30V-10 TCGA-GJ-A6C0-10A-01D-A30V-10 g.chr17:27940598T>C c.1879T>C c.(1879-1881)Tag>Cag p.*627Q LUAD 17 27935036 27935036 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr17:27935036G>T c.283G>T c.(283-285)Gag>Tag p.E95* LUAD 17 27935961 27935961 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr17:27935961G>C c.514G>C c.(514-516)Gac>Cac p.D172H LUAD 17 27936421 27936421 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr17:27936421G>A c.804G>A c.(802-804)gtG>gtA p.V268V LUAD 17 27937724 27937724 + Nonsense_Mutation SNP G G T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr17:27937724G>T c.844G>T c.(844-846)Gag>Tag p.E282* LUAD 17 27939023 27939023 + Splice_Site SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 g.chr17:27939023A>G c.1099A>G c.(1099-1101)Aag>Gag p.K367E LUSC 17 27934886 27934886 + Missense_Mutation SNP G G A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 g.chr17:27934886G>A c.241G>A c.(241-243)Ggc>Agc p.G81S LUSC 17 27935921 27935921 + Silent SNP C C T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr17:27935921C>T c.474C>T c.(472-474)agC>agT p.S158S LUSC 17 27936294 27936294 + Splice_Site SNP G G T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr17:27936294G>T c.e6+1 LUSC 17 27936431 27936431 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr17:27936431G>A c.814G>A c.(814-816)Gaa>Aaa p.E272K OV 17 27937716 27937716 + Missense_Mutation SNP C C G TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 g.chr17:27937716C>G c.836C>G c.(835-837)tCt>tGt p.S279C PAAD 17 27939445 27939445 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:27939445C>T c.1284C>T c.(1282-1284)aaC>aaT p.N428N PRAD 17 27934857 27934857 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 g.chr17:27934857G>A c.212G>A c.(211-213)gGc>gAc p.G71D PRAD 17 27939517 27939517 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:27939517C>T c.1356C>T c.(1354-1356)agC>agT p.S452S SARC 17 27935228 27935228 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr17:27935228G>A c.391G>A c.(391-393)Gtg>Atg p.V131M SKCM 17 27935057 27935057 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:27935057C>T c.304C>T c.(304-306)Cgg>Tgg p.R102W

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 27943769 27943769 single base substitution C G downstream_gene_variant BLCA-US 17 27935029 27935029 single base substitution G A 5_prime_UTR_variant BLCA-US 17 27935029 27935029 single base substitution G A exon_variant BLCA-US 17 27935029 27935029 single base substitution G A intron_variant BLCA-US 17 27935029 27935029 single base substitution G A synonymous_variant R92R 276G>A BLCA-US 17 27935029 27935029 single base substitution G A upstream_gene_variant BLCA-US 17 27943163 27943163 single base substitution C T downstream_gene_variant BLCA-US 17 27943318 27943318 single base substitution G A downstream_gene_variant BLCA-US 17 27945821 27945821 single base substitution C T downstream_gene_variant BLCA-US 17 27945892 27945892 single base substitution C T downstream_gene_variant BLCA-US 17 27946116 27946116 single base substitution G C downstream_gene_variant BLCA-US 17 27946710 27946710 single base substitution C T downstream_gene_variant BRCA-EU 17 27911867 27911867 single base substitution T C upstream_gene_variant BRCA-EU 17 27912063 27912063 single base substitution C G upstream_gene_variant BRCA-EU 17 27912157 27912157 single base substitution C G upstream_gene_variant BRCA-EU 17 27912700 27912700 single base substitution G A upstream_gene_variant BRCA-EU 17 27912786 27912786 single base substitution G A upstream_gene_variant BRCA-EU 17 27914365 27914365 single base substitution C T upstream_gene_variant BRCA-EU 17 27914719 27914719 single base substitution T A upstream_gene_variant BRCA-EU 17 27914832 27914832 single base substitution G A upstream_gene_variant BRCA-EU 17 27916094 27916094 single base substitution G A upstream_gene_variant BRCA-EU 17 27921267 27921267 single base substitution G T intron_variant BRCA-EU 17 27921461 27921461 single base substitution G C intron_variant BRCA-EU 17 27921461 27921461 single base substitution G C upstream_gene_variant BRCA-EU 17 27922523 27922523 single base substitution C T intron_variant BRCA-EU 17 27922523 27922523 single base substitution C T upstream_gene_variant BRCA-EU 17 27923770 27923770 single base substitution C T intron_variant BRCA-EU 17 27923770 27923770 single base substitution C T upstream_gene_variant BRCA-EU 17 27925038 27925038 single base substitution G T intron_variant BRCA-EU 17 27925038 27925038 single base substitution G T upstream_gene_variant BRCA-EU 17 27926035 27926035 single base substitution C G intron_variant BRCA-EU 17 27926035 27926035 single base substitution C G upstream_gene_variant BRCA-EU 17 27927317 27927317 single base substitution G A intron_variant BRCA-EU 17 27927542 27927542 single base substitution G C intron_variant BRCA-EU 17 27927994 27927994 single base substitution G A intron_variant BRCA-EU 17 27928178 27928178 single base substitution G C intron_variant BRCA-EU 17 27928227 27928227 single base substitution G A intron_variant BRCA-EU 17 27929855 27929855 single base substitution C G intron_variant BRCA-EU 17 27932980 27932980 single base substitution G C intron_variant BRCA-EU 17 27932980 27932980 single base substitution G C upstream_gene_variant BRCA-EU 17 27934071 27934071 deletion of <=200bp A - intron_variant BRCA-EU 17 27934071 27934071 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 27937030 27937030 single base substitution G T downstream_gene_variant BRCA-EU 17 27937030 27937030 single base substitution G T intron_variant BRCA-EU 17 27937030 27937030 single base substitution G T upstream_gene_variant BRCA-EU 17 27937790 27937790 single base substitution G A downstream_gene_variant BRCA-EU 17 27937790 27937790 single base substitution G A splice_region_variant BRCA-EU 17 27937790 27937790 single base substitution G A upstream_gene_variant BRCA-EU 17 27937846 27937846 single base substitution C T downstream_gene_variant BRCA-EU 17 27937846 27937846 single base substitution C T intron_variant BRCA-EU 17 27937846 27937846 single base substitution C T upstream_gene_variant BRCA-EU 17 27937891 27937891 single base substitution G A downstream_gene_variant BRCA-EU 17 27937891 27937891 single base substitution G A intron_variant BRCA-EU 17 27937891 27937891 single base substitution G A upstream_gene_variant BRCA-EU 17 27938274 27938274 single base substitution G A downstream_gene_variant BRCA-EU 17 27938274 27938274 single base substitution G A intron_variant BRCA-EU 17 27938274 27938274 single base substitution G A upstream_gene_variant BRCA-EU 17 27938327 27938327 single base substitution C T downstream_gene_variant BRCA-EU 17 27938327 27938327 single base substitution C T intron_variant BRCA-EU 17 27938327 27938327 single base substitution C T upstream_gene_variant BRCA-EU 17 27938345 27938345 single base substitution C G downstream_gene_variant BRCA-EU 17 27938345 27938345 single base substitution C G intron_variant BRCA-EU 17 27938345 27938345 single base substitution C G upstream_gene_variant BRCA-EU 17 27938403 27938403 single base substitution C G downstream_gene_variant BRCA-EU 17 27938403 27938403 single base substitution C G intron_variant BRCA-EU 17 27938403 27938403 single base substitution C G upstream_gene_variant BRCA-EU 17 27938590 27938590 single base substitution C G downstream_gene_variant BRCA-EU 17 27938590 27938590 single base substitution C G splice_region_variant BRCA-EU 17 27938590 27938590 single base substitution C G upstream_gene_variant BRCA-EU 17 27938830 27938830 single base substitution C T downstream_gene_variant BRCA-EU 17 27938830 27938830 single base substitution C T intron_variant BRCA-EU 17 27938830 27938830 single base substitution C T upstream_gene_variant BRCA-EU 17 27938902 27938902 single base substitution C T downstream_gene_variant BRCA-EU 17 27938902 27938902 single base substitution C T exon_variant BRCA-EU 17 27938902 27938902 single base substitution C T synonymous_variant I326I 978C>T BRCA-EU 17 27938902 27938902 single base substitution C T upstream_gene_variant BRCA-EU 17 27939314 27939314 single base substitution C T downstream_gene_variant BRCA-EU 17 27939314 27939314 single base substitution C T intron_variant BRCA-EU 17 27939314 27939314 single base substitution C T upstream_gene_variant BRCA-EU 17 27940430 27940430 single base substitution C T downstream_gene_variant BRCA-EU 17 27940430 27940430 single base substitution C T exon_variant BRCA-EU 17 27940430 27940430 single base substitution C T missense_variant R571W 1711C>T BRCA-EU 17 27940920 27940920 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 27940920 27940920 single base substitution C T downstream_gene_variant BRCA-EU 17 27940920 27940920 single base substitution C T exon_variant BRCA-EU 17 27940920 27940920 single base substitution C T intron_variant BRCA-EU 17 27941193 27941193 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 27941193 27941193 single base substitution C G downstream_gene_variant BRCA-EU 17 27941193 27941193 single base substitution C G exon_variant BRCA-EU 17 27941193 27941193 single base substitution C G intron_variant BRCA-EU 17 27944266 27944266 single base substitution C T downstream_gene_variant BRCA-EU 17 27946371 27946371 single base substitution C T downstream_gene_variant BRCA-FR 17 27916211 27916211 single base substitution G A upstream_gene_variant BRCA-FR 17 27916569 27916569 single base substitution C T upstream_gene_variant BRCA-FR 17 27921461 27921461 single base substitution G C intron_variant BRCA-FR 17 27921461 27921461 single base substitution G C upstream_gene_variant BRCA-FR 17 27923770 27923770 single base substitution C T intron_variant BRCA-FR 17 27923770 27923770 single base substitution C T upstream_gene_variant BRCA-FR 17 27926035 27926035 single base substitution C G intron_variant BRCA-FR 17 27926035 27926035 single base substitution C G upstream_gene_variant BRCA-FR 17 27932980 27932980 single base substitution G C intron_variant BRCA-FR 17 27932980 27932980 single base substitution G C upstream_gene_variant BRCA-FR 17 27938830 27938830 single base substitution C T downstream_gene_variant BRCA-FR 17 27938830 27938830 single base substitution C T intron_variant BRCA-FR 17 27938830 27938830 single base substitution C T upstream_gene_variant BRCA-FR 17 27940568 27940568 single base substitution C T downstream_gene_variant BRCA-FR 17 27940568 27940568 single base substitution C T exon_variant BRCA-FR 17 27940568 27940568 single base substitution C T missense_variant R617C 1849C>T BRCA-UK 17 27928178 27928178 single base substitution G C intron_variant BRCA-UK 17 27937846 27937846 single base substitution C T downstream_gene_variant BRCA-UK 17 27937846 27937846 single base substitution C T intron_variant BRCA-UK 17 27937846 27937846 single base substitution C T upstream_gene_variant BRCA-UK 17 27944031 27944031 single base substitution C T downstream_gene_variant BRCA-US 17 27934851 27934851 single base substitution C T 5_prime_UTR_variant BRCA-US 17 27934851 27934851 single base substitution C T exon_variant BRCA-US 17 27934851 27934851 single base substitution C T missense_variant A69V 206C>T BRCA-US 17 27934851 27934851 single base substitution C T upstream_gene_variant BRCA-US 17 27946110 27946110 single base substitution T G downstream_gene_variant BRCA-US 17 27946141 27946142 deletion of <=200bp GG - downstream_gene_variant BTCA-JP 17 27935075 27935075 single base substitution C T 5_prime_UTR_variant BTCA-JP 17 27935075 27935075 single base substitution C T exon_variant BTCA-JP 17 27935075 27935075 single base substitution C T intron_variant BTCA-JP 17 27935075 27935075 single base substitution C T missense_variant R108W 322C>T BTCA-JP 17 27935075 27935075 single base substitution C T upstream_gene_variant BTCA-JP 17 27936246 27936246 single base substitution G A downstream_gene_variant BTCA-JP 17 27936246 27936246 single base substitution G A exon_variant BTCA-JP 17 27936246 27936246 single base substitution G A synonymous_variant A236A 708G>A BTCA-JP 17 27936246 27936246 single base substitution G A upstream_gene_variant BTCA-JP 17 27939227 27939227 single base substitution G A downstream_gene_variant BTCA-JP 17 27939227 27939227 single base substitution G A exon_variant BTCA-JP 17 27939227 27939227 single base substitution G A synonymous_variant A398A 1194G>A BTCA-JP 17 27939227 27939227 single base substitution G A upstream_gene_variant CESC-US 17 27936291 27936291 single base substitution G C downstream_gene_variant CESC-US 17 27936291 27936291 single base substitution G C exon_variant CESC-US 17 27936291 27936291 single base substitution G C missense_variant E251D 753G>C CESC-US 17 27936291 27936291 single base substitution G C splice_region_variant CESC-US 17 27936291 27936291 single base substitution G C upstream_gene_variant CESC-US 17 27938969 27938969 single base substitution G C downstream_gene_variant CESC-US 17 27938969 27938969 single base substitution G C exon_variant CESC-US 17 27938969 27938969 single base substitution G C missense_variant E349Q 1045G>C CESC-US 17 27938969 27938969 single base substitution G C upstream_gene_variant CESC-US 17 27939913 27939913 single base substitution C T downstream_gene_variant CESC-US 17 27939913 27939913 single base substitution C T exon_variant CESC-US 17 27939913 27939913 single base substitution C T synonymous_variant I528I 1584C>T CESC-US 17 27939913 27939913 single base substitution C T synonymous_variant I88I 264C>T CESC-US 17 27940575 27940575 single base substitution T A downstream_gene_variant CESC-US 17 27940575 27940575 single base substitution T A exon_variant CESC-US 17 27940575 27940575 single base substitution T A missense_variant L619Q 1856T>A CESC-US 17 27943318 27943318 single base substitution G A downstream_gene_variant CESC-US 17 27943334 27943334 single base substitution C G downstream_gene_variant CESC-US 17 27946167 27946167 single base substitution G A downstream_gene_variant CLLE-ES 17 27924052 27924052 single base substitution G A intron_variant CLLE-ES 17 27924052 27924052 single base substitution G A upstream_gene_variant CLLE-ES 17 27926898 27926898 single base substitution T G intron_variant CLLE-ES 17 27934090 27934090 single base substitution A C intron_variant CLLE-ES 17 27934090 27934090 single base substitution A C upstream_gene_variant COAD-US 17 27936203 27936203 single base substitution C T downstream_gene_variant COAD-US 17 27936203 27936203 single base substitution C T exon_variant COAD-US 17 27936203 27936203 single base substitution C T missense_variant A222V 665C>T COAD-US 17 27936203 27936203 single base substitution C T upstream_gene_variant COAD-US 17 27936394 27936394 single base substitution C A downstream_gene_variant COAD-US 17 27936394 27936394 single base substitution C A exon_variant COAD-US 17 27936394 27936394 single base substitution C A synonymous_variant G259G 777C>A COAD-US 17 27936394 27936394 single base substitution C A upstream_gene_variant COAD-US 17 27938978 27938978 single base substitution A G downstream_gene_variant COAD-US 17 27938978 27938978 single base substitution A G exon_variant COAD-US 17 27938978 27938978 single base substitution A G missense_variant N352D 1054A>G COAD-US 17 27938978 27938978 single base substitution A G upstream_gene_variant COAD-US 17 27939814 27939814 single base substitution C T downstream_gene_variant COAD-US 17 27939814 27939814 single base substitution C T exon_variant COAD-US 17 27939814 27939814 single base substitution C T missense_variant A519V 1556C>T COAD-US 17 27939814 27939814 single base substitution C T missense_variant A79V 236C>T COAD-US 17 27940469 27940469 single base substitution C T downstream_gene_variant COAD-US 17 27940469 27940469 single base substitution C T exon_variant COAD-US 17 27940469 27940469 single base substitution C T missense_variant R584W 1750C>T COAD-US 17 27943778 27943778 single base substitution G A downstream_gene_variant COAD-US 17 27943782 27943782 single base substitution C T downstream_gene_variant COAD-US 17 27945951 27945951 single base substitution C T downstream_gene_variant COAD-US 17 27946132 27946132 single base substitution G A downstream_gene_variant COCA-CN 17 27937551 27937551 single base substitution G T downstream_gene_variant COCA-CN 17 27937551 27937551 single base substitution G T intron_variant COCA-CN 17 27937551 27937551 single base substitution G T upstream_gene_variant COCA-CN 17 27937559 27937559 single base substitution G T downstream_gene_variant COCA-CN 17 27937559 27937559 single base substitution G T intron_variant COCA-CN 17 27937559 27937559 single base substitution G T upstream_gene_variant COCA-CN 17 27942797 27942797 single base substitution T A downstream_gene_variant COCA-CN 17 27945922 27945922 single base substitution C T downstream_gene_variant ESAD-UK 17 27913575 27913575 single base substitution A C upstream_gene_variant ESAD-UK 17 27914694 27914694 single base substitution C A upstream_gene_variant ESAD-UK 17 27919212 27919212 single base substitution C T intron_variant ESAD-UK 17 27919212 27919212 single base substitution C T upstream_gene_variant ESAD-UK 17 27923052 27923052 single base substitution G A intron_variant ESAD-UK 17 27923052 27923052 single base substitution G A upstream_gene_variant ESAD-UK 17 27924536 27924536 single base substitution T C intron_variant ESAD-UK 17 27924536 27924536 single base substitution T C upstream_gene_variant ESAD-UK 17 27925927 27925927 single base substitution C G intron_variant ESAD-UK 17 27925927 27925927 single base substitution C G upstream_gene_variant ESAD-UK 17 27931758 27931758 single base substitution G A intron_variant ESAD-UK 17 27931758 27931758 single base substitution G A upstream_gene_variant ESAD-UK 17 27932465 27932465 single base substitution T C intron_variant ESAD-UK 17 27932465 27932465 single base substitution T C upstream_gene_variant ESAD-UK 17 27932474 27932475 deletion of <=200bp AC - intron_variant ESAD-UK 17 27932474 27932475 deletion of <=200bp AC - upstream_gene_variant ESAD-UK 17 27933608 27933608 single base substitution T G intron_variant ESAD-UK 17 27933608 27933608 single base substitution T G upstream_gene_variant ESAD-UK 17 27934071 27934071 deletion of <=200bp A - intron_variant ESAD-UK 17 27934071 27934071 deletion of <=200bp A - upstream_gene_variant ESAD-UK 17 27934071 27934071 single base substitution A C intron_variant ESAD-UK 17 27934071 27934071 single base substitution A C upstream_gene_variant ESAD-UK 17 27934095 27934095 single base substitution A C intron_variant ESAD-UK 17 27934095 27934095 single base substitution A C upstream_gene_variant ESAD-UK 17 27934936 27934936 deletion of <=200bp C - exon_variant ESAD-UK 17 27934936 27934936 deletion of <=200bp C - intron_variant ESAD-UK 17 27934936 27934936 deletion of <=200bp C - upstream_gene_variant ESAD-UK 17 27937329 27937329 single base substitution C T downstream_gene_variant ESAD-UK 17 27937329 27937329 single base substitution C T intron_variant ESAD-UK 17 27937329 27937329 single base substitution C T upstream_gene_variant ESAD-UK 17 27938549 27938549 single base substitution G T downstream_gene_variant ESAD-UK 17 27938549 27938549 single base substitution G T intron_variant ESAD-UK 17 27938549 27938549 single base substitution G T upstream_gene_variant ESAD-UK 17 27940543 27940543 single base substitution G A downstream_gene_variant ESAD-UK 17 27940543 27940543 single base substitution G A exon_variant ESAD-UK 17 27940543 27940543 single base substitution G A synonymous_variant A608A 1824G>A ESAD-UK 17 27942557 27942557 single base substitution C A downstream_gene_variant ESAD-UK 17 27944272 27944272 single base substitution G T downstream_gene_variant ESAD-UK 17 27945388 27945388 single base substitution G A downstream_gene_variant ESAD-UK 17 27946223 27946223 single base substitution A G downstream_gene_variant ESCA-CN 17 27944639 27944639 insertion of <=200bp - G downstream_gene_variant GBM-US 17 27939203 27939203 single base substitution T A downstream_gene_variant GBM-US 17 27939203 27939203 single base substitution T A exon_variant GBM-US 17 27939203 27939203 single base substitution T A synonymous_variant I390I 1170T>A GBM-US 17 27939203 27939203 single base substitution T A upstream_gene_variant GBM-US 17 27939701 27939701 single base substitution G A downstream_gene_variant GBM-US 17 27939701 27939701 single base substitution G A exon_variant GBM-US 17 27939701 27939701 single base substitution G A synonymous_variant A41A 123G>A GBM-US 17 27939701 27939701 single base substitution G A synonymous_variant A481A 1443G>A LAML-KR 17 27931582 27931582 single base substitution T C intron_variant LAML-KR 17 27931582 27931582 single base substitution T C upstream_gene_variant LGG-US 17 27939276 27939276 single base substitution T G downstream_gene_variant LGG-US 17 27939276 27939276 single base substitution T G exon_variant LGG-US 17 27939276 27939276 single base substitution T G missense_variant F415V 1243T>G LGG-US 17 27939276 27939276 single base substitution T G upstream_gene_variant LICA-CN 17 27936275 27936275 single base substitution A T downstream_gene_variant LICA-CN 17 27936275 27936275 single base substitution A T exon_variant LICA-CN 17 27936275 27936275 single base substitution A T missense_variant K246M 737A>T LICA-CN 17 27936275 27936275 single base substitution A T upstream_gene_variant LICA-FR 17 27919098 27919098 single base substitution C T intron_variant LICA-FR 17 27919098 27919098 single base substitution C T upstream_gene_variant LICA-FR 17 27920726 27920726 single base substitution G T exon_variant LICA-FR 17 27920726 27920726 single base substitution G T intron_variant LICA-FR 17 27920726 27920726 single base substitution G T missense_variant E29D 87G>T LICA-FR 17 27924546 27924546 single base substitution G T intron_variant LICA-FR 17 27924546 27924546 single base substitution G T upstream_gene_variant LICA-FR 17 27932538 27932593 deletion of <=200bp TGCAGAGGTGTGATGATACCTCACTGCAGCCTCAACCTCCCAGGCTTAAGCGATCC - intron_variant LICA-FR 17 27932538 27932593 deletion of <=200bp TGCAGAGGTGTGATGATACCTCACTGCAGCCTCAACCTCCCAGGCTTAAGCGATCC - upstream_gene_variant LICA-FR 17 27933776 27933776 single base substitution A G intron_variant LICA-FR 17 27933776 27933776 single base substitution A G upstream_gene_variant LICA-FR 17 27940406 27940406 single base substitution C T downstream_gene_variant LICA-FR 17 27940406 27940406 single base substitution C T exon_variant LICA-FR 17 27940406 27940406 single base substitution C T missense_variant P563S 1687C>T LICA-FR 17 27940448 27940448 single base substitution G A downstream_gene_variant LICA-FR 17 27940448 27940448 single base substitution G A exon_variant LICA-FR 17 27940448 27940448 single base substitution G A missense_variant G577S 1729G>A LICA-FR 17 27944608 27944608 single base substitution C T downstream_gene_variant LICA-FR 17 27946683 27946683 single base substitution C G downstream_gene_variant LIHC-US 17 27940598 27940598 single base substitution T C downstream_gene_variant LIHC-US 17 27940598 27940598 single base substitution T C exon_variant LIHC-US 17 27940598 27940598 single base substitution T C stop_lost *627Q 1879T>C LIHC-US 17 27943827 27943828 deletion of <=200bp CT - downstream_gene_variant LINC-JP 17 27938541 27938541 single base substitution G T downstream_gene_variant LINC-JP 17 27938541 27938541 single base substitution G T intron_variant LINC-JP 17 27938541 27938541 single base substitution G T upstream_gene_variant LINC-JP 17 27941078 27941078 single base substitution C T 3_prime_UTR_variant LINC-JP 17 27941078 27941078 single base substitution C T downstream_gene_variant LINC-JP 17 27941078 27941078 single base substitution C T exon_variant LINC-JP 17 27941078 27941078 single base substitution C T intron_variant LINC-JP 17 27946278 27946278 deletion of <=200bp T - downstream_gene_variant LIRI-JP 17 27913374 27913374 single base substitution T C upstream_gene_variant LIRI-JP 17 27915257 27915257 single base substitution G A upstream_gene_variant LIRI-JP 17 27918043 27918043 single base substitution G C intron_variant LIRI-JP 17 27918043 27918043 single base substitution G C upstream_gene_variant LIRI-JP 17 27919002 27919002 single base substitution C A intron_variant LIRI-JP 17 27919002 27919002 single base substitution C A upstream_gene_variant LIRI-JP 17 27923844 27923844 single base substitution G A intron_variant LIRI-JP 17 27923844 27923844 single base substitution G A upstream_gene_variant LIRI-JP 17 27929021 27929021 single base substitution C T intron_variant LIRI-JP 17 27929818 27929818 single base substitution A T intron_variant LIRI-JP 17 27932920 27932920 single base substitution T G intron_variant LIRI-JP 17 27932920 27932920 single base substitution T G upstream_gene_variant LIRI-JP 17 27934435 27934435 single base substitution G T intron_variant LIRI-JP 17 27934435 27934435 single base substitution G T upstream_gene_variant LIRI-JP 17 27934436 27934436 single base substitution C T intron_variant LIRI-JP 17 27934436 27934436 single base substitution C T upstream_gene_variant LIRI-JP 17 27935388 27935388 single base substitution C T intron_variant LIRI-JP 17 27935388 27935388 single base substitution C T upstream_gene_variant LIRI-JP 17 27938374 27938374 single base substitution G A downstream_gene_variant LIRI-JP 17 27938374 27938374 single base substitution G A intron_variant LIRI-JP 17 27938374 27938374 single base substitution G A upstream_gene_variant LIRI-JP 17 27940406 27940406 deletion of <=200bp C - downstream_gene_variant LIRI-JP 17 27940406 27940406 deletion of <=200bp C - exon_variant LIRI-JP 17 27940406 27940406 deletion of <=200bp C - frameshift_variant P563 LIRI-JP 17 27946290 27946290 single base substitution C A downstream_gene_variant LUSC-KR 17 27911819 27911819 single base substitution C A upstream_gene_variant LUSC-KR 17 27918943 27918943 single base substitution C A intron_variant LUSC-KR 17 27918943 27918943 single base substitution C A upstream_gene_variant LUSC-KR 17 27929904 27929904 single base substitution C T intron_variant LUSC-KR 17 27930668 27930668 single base substitution C A intron_variant LUSC-KR 17 27935047 27935047 single base substitution G T 5_prime_UTR_variant LUSC-KR 17 27935047 27935047 single base substitution G T exon_variant LUSC-KR 17 27935047 27935047 single base substitution G T intron_variant LUSC-KR 17 27935047 27935047 single base substitution G T missense_variant Q98H 294G>T LUSC-KR 17 27935047 27935047 single base substitution G T upstream_gene_variant LUSC-KR 17 27940635 27940635 single base substitution C T 3_prime_UTR_variant LUSC-KR 17 27940635 27940635 single base substitution C T downstream_gene_variant LUSC-KR 17 27940635 27940635 single base substitution C T exon_variant LUSC-KR 17 27942197 27942197 single base substitution G A downstream_gene_variant LUSC-KR 17 27943689 27943689 single base substitution T G downstream_gene_variant LUSC-KR 17 27944969 27944969 single base substitution C T downstream_gene_variant LUSC-US 17 27934886 27934886 single base substitution G A 5_prime_UTR_variant LUSC-US 17 27934886 27934886 single base substitution G A exon_variant LUSC-US 17 27934886 27934886 single base substitution G A missense_variant G81S 241G>A LUSC-US 17 27934886 27934886 single base substitution G A upstream_gene_variant LUSC-US 17 27935921 27935921 single base substitution C T exon_variant LUSC-US 17 27935921 27935921 single base substitution C T synonymous_variant S158S 474C>T LUSC-US 17 27935921 27935921 single base substitution C T synonymous_variant S26S 78C>T LUSC-US 17 27935921 27935921 single base substitution C T upstream_gene_variant LUSC-US 17 27936294 27936294 single base substitution G T downstream_gene_variant LUSC-US 17 27936294 27936294 single base substitution G T exon_variant LUSC-US 17 27936294 27936294 single base substitution G T splice_donor_variant LUSC-US 17 27936294 27936294 single base substitution G T upstream_gene_variant LUSC-US 17 27936431 27936431 single base substitution G A downstream_gene_variant LUSC-US 17 27936431 27936431 single base substitution G A exon_variant LUSC-US 17 27936431 27936431 single base substitution G A missense_variant E272K 814G>A LUSC-US 17 27936431 27936431 single base substitution G A upstream_gene_variant LUSC-US 17 27944061 27944061 single base substitution C T downstream_gene_variant LUSC-US 17 27944542 27944542 single base substitution C G downstream_gene_variant MALY-DE 17 27914130 27914130 single base substitution C T upstream_gene_variant MALY-DE 17 27914831 27914831 single base substitution C T upstream_gene_variant MALY-DE 17 27935475 27935475 single base substitution A C intron_variant MALY-DE 17 27935475 27935475 single base substitution A C upstream_gene_variant MALY-DE 17 27936033 27936033 single base substitution G A downstream_gene_variant MALY-DE 17 27936033 27936033 single base substitution G A intron_variant MALY-DE 17 27936033 27936033 single base substitution G A upstream_gene_variant MALY-DE 17 27936638 27936639 deletion of <=200bp CA - downstream_gene_variant MALY-DE 17 27936638 27936639 deletion of <=200bp CA - intron_variant MALY-DE 17 27936638 27936639 deletion of <=200bp CA - upstream_gene_variant MALY-DE 17 27938643 27938643 single base substitution C T downstream_gene_variant MALY-DE 17 27938643 27938643 single base substitution C T exon_variant MALY-DE 17 27938643 27938643 single base substitution C T synonymous_variant H317H 951C>T MALY-DE 17 27938643 27938643 single base substitution C T upstream_gene_variant MELA-AU 17 27911890 27911890 single base substitution C T upstream_gene_variant MELA-AU 17 27912058 27912058 single base substitution G A upstream_gene_variant MELA-AU 17 27912369 27912370 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 27912762 27912762 single base substitution A G upstream_gene_variant MELA-AU 17 27913006 27913006 single base substitution C T upstream_gene_variant MELA-AU 17 27913089 27913089 single base substitution G A upstream_gene_variant MELA-AU 17 27913569 27913569 single base substitution G A upstream_gene_variant MELA-AU 17 27913690 27913690 single base substitution G A upstream_gene_variant MELA-AU 17 27914466 27914466 single base substitution G A upstream_gene_variant MELA-AU 17 27914471 27914471 single base substitution G A upstream_gene_variant MELA-AU 17 27914823 27914823 single base substitution C A upstream_gene_variant MELA-AU 17 27915254 27915254 single base substitution A T upstream_gene_variant MELA-AU 17 27916906 27916906 single base substitution C T intron_variant MELA-AU 17 27916906 27916906 single base substitution C T upstream_gene_variant MELA-AU 17 27920812 27920812 single base substitution G A intron_variant MELA-AU 17 27922721 27922721 single base substitution C T intron_variant MELA-AU 17 27922721 27922721 single base substitution C T upstream_gene_variant MELA-AU 17 27923063 27923063 single base substitution C T intron_variant MELA-AU 17 27923063 27923063 single base substitution C T upstream_gene_variant MELA-AU 17 27923064 27923064 single base substitution C T intron_variant MELA-AU 17 27923064 27923064 single base substitution C T upstream_gene_variant MELA-AU 17 27923153 27923153 single base substitution C T intron_variant MELA-AU 17 27923153 27923153 single base substitution C T upstream_gene_variant MELA-AU 17 27923187 27923187 single base substitution C T intron_variant MELA-AU 17 27923187 27923187 single base substitution C T upstream_gene_variant MELA-AU 17 27923584 27923584 single base substitution G C intron_variant MELA-AU 17 27923584 27923584 single base substitution G C upstream_gene_variant MELA-AU 17 27924899 27924899 single base substitution C T intron_variant MELA-AU 17 27924899 27924899 single base substitution C T upstream_gene_variant MELA-AU 17 27925408 27925408 single base substitution C T intron_variant MELA-AU 17 27925408 27925408 single base substitution C T upstream_gene_variant MELA-AU 17 27925448 27925448 single base substitution C T intron_variant MELA-AU 17 27925448 27925448 single base substitution C T upstream_gene_variant MELA-AU 17 27925531 27925531 single base substitution T A intron_variant MELA-AU 17 27925531 27925531 single base substitution T A upstream_gene_variant MELA-AU 17 27925582 27925582 single base substitution C T intron_variant MELA-AU 17 27925582 27925582 single base substitution C T upstream_gene_variant MELA-AU 17 27926197 27926197 single base substitution G A intron_variant MELA-AU 17 27926197 27926197 single base substitution G A upstream_gene_variant MELA-AU 17 27926817 27926817 single base substitution C T intron_variant MELA-AU 17 27926925 27926925 single base substitution C T intron_variant MELA-AU 17 27927330 27927330 single base substitution G A intron_variant MELA-AU 17 27927396 27927396 single base substitution G A intron_variant MELA-AU 17 27927713 27927713 single base substitution C T intron_variant MELA-AU 17 27927789 27927789 single base substitution C T intron_variant MELA-AU 17 27927954 27927954 single base substitution T A intron_variant MELA-AU 17 27928167 27928167 single base substitution C T intron_variant MELA-AU 17 27930004 27930004 single base substitution G A intron_variant MELA-AU 17 27930266 27930266 single base substitution T G intron_variant MELA-AU 17 27930434 27930434 single base substitution T C intron_variant MELA-AU 17 27930769 27930769 single base substitution C T intron_variant MELA-AU 17 27930769 27930769 single base substitution C T upstream_gene_variant MELA-AU 17 27930797 27930797 single base substitution A G intron_variant MELA-AU 17 27930797 27930797 single base substitution A G upstream_gene_variant MELA-AU 17 27931162 27931162 single base substitution C T intron_variant MELA-AU 17 27931162 27931162 single base substitution C T upstream_gene_variant MELA-AU 17 27931307 27931307 single base substitution G A intron_variant MELA-AU 17 27931307 27931307 single base substitution G A upstream_gene_variant MELA-AU 17 27931549 27931549 single base substitution C T intron_variant MELA-AU 17 27931549 27931549 single base substitution C T upstream_gene_variant MELA-AU 17 27931585 27931585 single base substitution A C intron_variant MELA-AU 17 27931585 27931585 single base substitution A C upstream_gene_variant MELA-AU 17 27931989 27931989 single base substitution G A intron_variant MELA-AU 17 27931989 27931989 single base substitution G A upstream_gene_variant MELA-AU 17 27932155 27932155 single base substitution C T intron_variant MELA-AU 17 27932155 27932155 single base substitution C T upstream_gene_variant MELA-AU 17 27932188 27932188 single base substitution A T intron_variant MELA-AU 17 27932188 27932188 single base substitution A T upstream_gene_variant MELA-AU 17 27932337 27932337 single base substitution C T intron_variant MELA-AU 17 27932337 27932337 single base substitution C T upstream_gene_variant MELA-AU 17 27932338 27932338 single base substitution C T intron_variant MELA-AU 17 27932338 27932338 single base substitution C T upstream_gene_variant MELA-AU 17 27932383 27932383 single base substitution C T intron_variant MELA-AU 17 27932383 27932383 single base substitution C T upstream_gene_variant MELA-AU 17 27932433 27932433 single base substitution A C intron_variant MELA-AU 17 27932433 27932433 single base substitution A C upstream_gene_variant MELA-AU 17 27932451 27932451 single base substitution C T intron_variant MELA-AU 17 27932451 27932451 single base substitution C T upstream_gene_variant MELA-AU 17 27932841 27932841 single base substitution C T intron_variant MELA-AU 17 27932841 27932841 single base substitution C T upstream_gene_variant MELA-AU 17 27933159 27933160 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 27933159 27933160 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 27934334 27934334 single base substitution C T intron_variant MELA-AU 17 27934334 27934334 single base substitution C T upstream_gene_variant MELA-AU 17 27934384 27934384 single base substitution C T intron_variant MELA-AU 17 27934384 27934384 single base substitution C T upstream_gene_variant MELA-AU 17 27934510 27934510 single base substitution C T intron_variant MELA-AU 17 27934510 27934510 single base substitution C T upstream_gene_variant MELA-AU 17 27934569 27934569 single base substitution C T intron_variant MELA-AU 17 27934569 27934569 single base substitution C T upstream_gene_variant MELA-AU 17 27934617 27934617 single base substitution C T intron_variant MELA-AU 17 27934617 27934617 single base substitution C T upstream_gene_variant MELA-AU 17 27934701 27934702 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 27934701 27934702 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 27934796 27934797 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 17 27934796 27934797 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 27934796 27934797 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P51F 151CC>TT MELA-AU 17 27934796 27934797 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 27934798 27934798 single base substitution C T 5_prime_UTR_variant MELA-AU 17 27934798 27934798 single base substitution C T exon_variant MELA-AU 17 27934798 27934798 single base substitution C T synonymous_variant P51P 153C>T MELA-AU 17 27934798 27934798 single base substitution C T upstream_gene_variant MELA-AU 17 27934810 27934810 single base substitution C T 5_prime_UTR_variant MELA-AU 17 27934810 27934810 single base substitution C T exon_variant MELA-AU 17 27934810 27934810 single base substitution C T synonymous_variant A55A 165C>T MELA-AU 17 27934810 27934810 single base substitution C T upstream_gene_variant MELA-AU 17 27934921 27934921 single base substitution C T exon_variant MELA-AU 17 27934921 27934921 single base substitution C T intron_variant MELA-AU 17 27934921 27934921 single base substitution C T upstream_gene_variant MELA-AU 17 27934981 27934981 single base substitution G T exon_variant MELA-AU 17 27934981 27934981 single base substitution G T intron_variant MELA-AU 17 27934981 27934981 single base substitution G T upstream_gene_variant MELA-AU 17 27935286 27935286 single base substitution G A intron_variant MELA-AU 17 27935286 27935286 single base substitution G A upstream_gene_variant MELA-AU 17 27936073 27936073 single base substitution T G downstream_gene_variant MELA-AU 17 27936073 27936073 single base substitution T G intron_variant MELA-AU 17 27936073 27936073 single base substitution T G upstream_gene_variant MELA-AU 17 27936080 27936080 single base substitution C T downstream_gene_variant MELA-AU 17 27936080 27936080 single base substitution C T intron_variant MELA-AU 17 27936080 27936080 single base substitution C T upstream_gene_variant MELA-AU 17 27936318 27936319 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 27936318 27936319 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 27936318 27936319 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 27936318 27936319 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 27937161 27937161 single base substitution G A downstream_gene_variant MELA-AU 17 27937161 27937161 single base substitution G A intron_variant MELA-AU 17 27937161 27937161 single base substitution G A upstream_gene_variant MELA-AU 17 27938708 27938708 single base substitution C T downstream_gene_variant MELA-AU 17 27938708 27938708 single base substitution C T intron_variant MELA-AU 17 27938708 27938708 single base substitution C T upstream_gene_variant MELA-AU 17 27939033 27939033 single base substitution C T downstream_gene_variant MELA-AU 17 27939033 27939033 single base substitution C T intron_variant MELA-AU 17 27939033 27939033 single base substitution C T upstream_gene_variant MELA-AU 17 27939397 27939398 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 27939397 27939398 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 27939397 27939398 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 27939509 27939509 single base substitution C T downstream_gene_variant MELA-AU 17 27939509 27939509 single base substitution C T exon_variant MELA-AU 17 27939509 27939509 single base substitution C T missense_variant P10S 28C>T MELA-AU 17 27939509 27939509 single base substitution C T missense_variant P450S 1348C>T MELA-AU 17 27939875 27939875 single base substitution G A downstream_gene_variant MELA-AU 17 27939875 27939875 single base substitution G A intron_variant MELA-AU 17 27940885 27940885 single base substitution G A 3_prime_UTR_variant MELA-AU 17 27940885 27940885 single base substitution G A downstream_gene_variant MELA-AU 17 27940885 27940885 single base substitution G A exon_variant MELA-AU 17 27940885 27940885 single base substitution G A intron_variant MELA-AU 17 27941203 27941204 multiple base substitution (>=2bp and <=200bp) CC TG 3_prime_UTR_variant MELA-AU 17 27941203 27941204 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 17 27941203 27941204 multiple base substitution (>=2bp and <=200bp) CC TG exon_variant MELA-AU 17 27941203 27941204 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 17 27942619 27942620 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 27943237 27943237 single base substitution G A downstream_gene_variant MELA-AU 17 27943263 27943263 single base substitution G A downstream_gene_variant MELA-AU 17 27944116 27944117 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 27944369 27944370 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 27945398 27945398 single base substitution G A downstream_gene_variant MELA-AU 17 27945722 27945722 single base substitution G A downstream_gene_variant MELA-AU 17 27946121 27946121 single base substitution G A downstream_gene_variant MELA-AU 17 27946216 27946216 single base substitution G A downstream_gene_variant MELA-AU 17 27946238 27946238 single base substitution G A downstream_gene_variant MELA-AU 17 27946368 27946368 single base substitution G A downstream_gene_variant ORCA-IN 17 27921885 27921885 single base substitution G A intron_variant ORCA-IN 17 27921885 27921885 single base substitution G A upstream_gene_variant ORCA-IN 17 27932433 27932433 single base substitution A C intron_variant ORCA-IN 17 27932433 27932433 single base substitution A C upstream_gene_variant OV-AU 17 27918135 27918135 single base substitution T G intron_variant OV-AU 17 27918135 27918135 single base substitution T G upstream_gene_variant OV-AU 17 27925755 27925755 single base substitution G A intron_variant OV-AU 17 27925755 27925755 single base substitution G A upstream_gene_variant OV-AU 17 27941117 27941117 single base substitution C A 3_prime_UTR_variant OV-AU 17 27941117 27941117 single base substitution C A downstream_gene_variant OV-AU 17 27941117 27941117 single base substitution C A exon_variant OV-AU 17 27941117 27941117 single base substitution C A intron_variant OV-AU 17 27944322 27944322 single base substitution G A downstream_gene_variant PACA-AU 17 27921898 27921898 single base substitution C T intron_variant PACA-AU 17 27921898 27921898 single base substitution C T upstream_gene_variant PACA-AU 17 27924388 27924388 single base substitution G A intron_variant PACA-AU 17 27924388 27924388 single base substitution G A upstream_gene_variant PACA-AU 17 27929406 27929406 single base substitution C G intron_variant PACA-AU 17 27930934 27930934 single base substitution T A intron_variant PACA-AU 17 27930934 27930934 single base substitution T A upstream_gene_variant PACA-AU 17 27934062 27934062 single base substitution C T intron_variant PACA-AU 17 27934062 27934062 single base substitution C T upstream_gene_variant PACA-AU 17 27938385 27938385 single base substitution A C downstream_gene_variant PACA-AU 17 27938385 27938385 single base substitution A C intron_variant PACA-AU 17 27938385 27938385 single base substitution A C upstream_gene_variant PACA-AU 17 27939762 27939764 deletion of <=200bp GAC - downstream_gene_variant PACA-AU 17 27939762 27939764 deletion of <=200bp GAC - exon_variant PACA-AU 17 27939762 27939764 deletion of <=200bp GAC - inframe_deletion D502 PACA-AU 17 27939762 27939764 deletion of <=200bp GAC - inframe_deletion D62 PACA-AU 17 27940406 27940406 deletion of <=200bp C - downstream_gene_variant PACA-AU 17 27940406 27940406 deletion of <=200bp C - exon_variant PACA-AU 17 27940406 27940406 deletion of <=200bp C - frameshift_variant P563 PACA-AU 17 27943686 27943686 single base substitution G T downstream_gene_variant PACA-AU 17 27946212 27946212 single base substitution G T downstream_gene_variant PACA-CA 17 27915922 27915922 single base substitution C T upstream_gene_variant PACA-CA 17 27924895 27924895 single base substitution C T intron_variant PACA-CA 17 27924895 27924895 single base substitution C T upstream_gene_variant PACA-CA 17 27926447 27926447 deletion of <=200bp G - exon_variant PACA-CA 17 27926447 27926447 deletion of <=200bp G - intron_variant PACA-CA 17 27934011 27934011 single base substitution C T intron_variant PACA-CA 17 27934011 27934011 single base substitution C T upstream_gene_variant PACA-CA 17 27938566 27938566 single base substitution G A downstream_gene_variant PACA-CA 17 27938566 27938566 single base substitution G A intron_variant PACA-CA 17 27938566 27938566 single base substitution G A upstream_gene_variant PACA-CA 17 27939869 27939869 single base substitution C T downstream_gene_variant PACA-CA 17 27939869 27939869 single base substitution C T intron_variant PACA-CA 17 27946098 27946107 deletion of <=200bp CTGGCAGTAG - downstream_gene_variant PAEN-IT 17 27921946 27921946 single base substitution C T intron_variant PAEN-IT 17 27921946 27921946 single base substitution C T upstream_gene_variant PAEN-IT 17 27935852 27935852 single base substitution A T exon_variant PAEN-IT 17 27935852 27935852 single base substitution A T intron_variant PAEN-IT 17 27935852 27935852 single base substitution A T upstream_gene_variant PBCA-DE 17 27914557 27914557 single base substitution C T upstream_gene_variant PBCA-DE 17 27920914 27920914 insertion of <=200bp - TGGGAGCGGGCCCTGCCCGC intron_variant PBCA-DE 17 27925788 27925788 single base substitution C T intron_variant PBCA-DE 17 27925788 27925788 single base substitution C T upstream_gene_variant PBCA-DE 17 27933084 27933084 single base substitution C T intron_variant PBCA-DE 17 27933084 27933084 single base substitution C T upstream_gene_variant PBCA-DE 17 27936638 27936639 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 17 27936638 27936639 deletion of <=200bp CA - intron_variant PBCA-DE 17 27936638 27936639 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 17 27939613 27939613 single base substitution C G downstream_gene_variant PBCA-DE 17 27939613 27939613 single base substitution C G intron_variant PRAD-CA 17 27943259 27943259 single base substitution C T downstream_gene_variant PRAD-UK 17 27917611 27917611 single base substitution C T intron_variant PRAD-UK 17 27917611 27917611 single base substitution C T upstream_gene_variant PRAD-UK 17 27918972 27918972 single base substitution G A intron_variant PRAD-UK 17 27918972 27918972 single base substitution G A upstream_gene_variant PRAD-UK 17 27921367 27921367 single base substitution C T intron_variant PRAD-UK 17 27924753 27924753 single base substitution G T intron_variant PRAD-UK 17 27924753 27924753 single base substitution G T upstream_gene_variant PRAD-UK 17 27933406 27933406 single base substitution G T intron_variant PRAD-UK 17 27933406 27933406 single base substitution G T upstream_gene_variant PRAD-UK 17 27939336 27939336 single base substitution C T downstream_gene_variant PRAD-UK 17 27939336 27939336 single base substitution C T intron_variant PRAD-UK 17 27939336 27939336 single base substitution C T upstream_gene_variant PRAD-US 17 27934857 27934857 single base substitution G A 5_prime_UTR_variant PRAD-US 17 27934857 27934857 single base substitution G A exon_variant PRAD-US 17 27934857 27934857 single base substitution G A missense_variant G71D 212G>A PRAD-US 17 27934857 27934857 single base substitution G A upstream_gene_variant READ-US 17 27946079 27946079 single base substitution T A downstream_gene_variant RECA-EU 17 27912610 27912610 single base substitution G A upstream_gene_variant RECA-EU 17 27917518 27917518 single base substitution A C intron_variant RECA-EU 17 27917518 27917518 single base substitution A C upstream_gene_variant RECA-EU 17 27943973 27943973 single base substitution C A downstream_gene_variant SKCA-BR 17 27916704 27916704 single base substitution G A upstream_gene_variant SKCA-BR 17 27918387 27918387 single base substitution A T intron_variant SKCA-BR 17 27918387 27918387 single base substitution A T upstream_gene_variant SKCA-BR 17 27918697 27918697 single base substitution C T intron_variant SKCA-BR 17 27918697 27918697 single base substitution C T upstream_gene_variant SKCA-BR 17 27920492 27920492 single base substitution G C 5_prime_UTR_variant SKCA-BR 17 27920492 27920492 single base substitution G C intron_variant SKCA-BR 17 27920792 27920792 single base substitution C T intron_variant SKCA-BR 17 27922275 27922275 single base substitution A G intron_variant SKCA-BR 17 27922275 27922275 single base substitution A G upstream_gene_variant SKCA-BR 17 27923585 27923585 single base substitution G A intron_variant SKCA-BR 17 27923585 27923585 single base substitution G A upstream_gene_variant SKCA-BR 17 27924830 27924830 single base substitution C T intron_variant SKCA-BR 17 27924830 27924830 single base substitution C T upstream_gene_variant SKCA-BR 17 27930895 27930896 deletion of <=200bp CT - intron_variant SKCA-BR 17 27930895 27930896 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 17 27936637 27936637 insertion of <=200bp - GCA downstream_gene_variant SKCA-BR 17 27936637 27936637 insertion of <=200bp - GCA intron_variant SKCA-BR 17 27936637 27936637 insertion of <=200bp - GCA upstream_gene_variant SKCA-BR 17 27938586 27938586 single base substitution A T downstream_gene_variant SKCA-BR 17 27938586 27938586 single base substitution A T intron_variant SKCA-BR 17 27938586 27938586 single base substitution A T upstream_gene_variant SKCA-BR 17 27941483 27941483 single base substitution C A 3_prime_UTR_variant SKCA-BR 17 27941483 27941483 single base substitution C A downstream_gene_variant SKCA-BR 17 27941483 27941483 single base substitution C A exon_variant SKCA-BR 17 27942716 27942716 single base substitution G C downstream_gene_variant SKCM-US 17 27935057 27935057 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 17 27935057 27935057 single base substitution C T exon_variant SKCM-US 17 27935057 27935057 single base substitution C T intron_variant SKCM-US 17 27935057 27935057 single base substitution C T missense_variant R102W 304C>T SKCM-US 17 27935057 27935057 single base substitution C T upstream_gene_variant SKCM-US 17 27943157 27943157 single base substitution G A downstream_gene_variant SKCM-US 17 27943746 27943746 single base substitution C T downstream_gene_variant SKCM-US 17 27944633 27944633 single base substitution C T downstream_gene_variant SKCM-US 17 27946683 27946683 single base substitution C T downstream_gene_variant STAD-US 17 27935104 27935104 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 17 27935104 27935104 single base substitution C T exon_variant STAD-US 17 27935104 27935104 single base substitution C T intron_variant STAD-US 17 27935104 27935104 single base substitution C T synonymous_variant P117P 351C>T STAD-US 17 27935104 27935104 single base substitution C T upstream_gene_variant STAD-US 17 27936185 27936185 single base substitution G A downstream_gene_variant STAD-US 17 27936185 27936185 single base substitution G A exon_variant STAD-US 17 27936185 27936185 single base substitution G A missense_variant R216Q 647G>A STAD-US 17 27936185 27936185 single base substitution G A upstream_gene_variant STAD-US 17 27936244 27936244 single base substitution G A downstream_gene_variant STAD-US 17 27936244 27936244 single base substitution G A exon_variant STAD-US 17 27936244 27936244 single base substitution G A missense_variant A236T 706G>A STAD-US 17 27936244 27936244 single base substitution G A upstream_gene_variant STAD-US 17 27936411 27936411 single base substitution C T downstream_gene_variant STAD-US 17 27936411 27936411 single base substitution C T exon_variant STAD-US 17 27936411 27936411 single base substitution C T missense_variant T265M 794C>T STAD-US 17 27936411 27936411 single base substitution C T upstream_gene_variant STAD-US 17 27937743 27937743 single base substitution G A downstream_gene_variant STAD-US 17 27937743 27937743 single base substitution G A exon_variant STAD-US 17 27937743 27937743 single base substitution G A missense_variant R288Q 863G>A STAD-US 17 27937743 27937743 single base substitution G A upstream_gene_variant STAD-US 17 27938981 27938981 single base substitution C T downstream_gene_variant STAD-US 17 27938981 27938981 single base substitution C T exon_variant STAD-US 17 27938981 27938981 single base substitution C T missense_variant R353C 1057C>T STAD-US 17 27938981 27938981 single base substitution C T upstream_gene_variant STAD-US 17 27939281 27939281 single base substitution A G downstream_gene_variant STAD-US 17 27939281 27939281 single base substitution A G exon_variant STAD-US 17 27939281 27939281 single base substitution A G synonymous_variant P416P 1248A>G STAD-US 17 27939281 27939281 single base substitution A G upstream_gene_variant STAD-US 17 27939735 27939735 single base substitution G A downstream_gene_variant STAD-US 17 27939735 27939735 single base substitution G A exon_variant STAD-US 17 27939735 27939735 single base substitution G A missense_variant G493S 1477G>A STAD-US 17 27939735 27939735 single base substitution G A missense_variant G53S 157G>A STAD-US 17 27939969 27939969 single base substitution G A downstream_gene_variant STAD-US 17 27939969 27939969 single base substitution G A exon_variant STAD-US 17 27939969 27939969 single base substitution G A missense_variant R107H 320G>A STAD-US 17 27939969 27939969 single base substitution G A missense_variant R547H 1640G>A STAD-US 17 27942982 27942982 single base substitution G C downstream_gene_variant STAD-US 17 27943176 27943176 single base substitution G A downstream_gene_variant STAD-US 17 27943832 27943832 single base substitution C T downstream_gene_variant STAD-US 17 27944531 27944531 single base substitution C A downstream_gene_variant STAD-US 17 27944627 27944627 single base substitution G A downstream_gene_variant STAD-US 17 27946167 27946167 single base substitution G A downstream_gene_variant STAD-US 17 27946705 27946705 single base substitution G A downstream_gene_variant UCEC-US 17 27934791 27934791 single base substitution G A 5_prime_UTR_variant UCEC-US 17 27934791 27934791 single base substitution G A exon_variant UCEC-US 17 27934791 27934791 single base substitution G A missense_variant R49Q 146G>A UCEC-US 17 27934791 27934791 single base substitution G A upstream_gene_variant UCEC-US 17 27934859 27934859 single base substitution G A 5_prime_UTR_variant UCEC-US 17 27934859 27934859 single base substitution G A exon_variant UCEC-US 17 27934859 27934859 single base substitution G A missense_variant A72T 214G>A UCEC-US 17 27934859 27934859 single base substitution G A upstream_gene_variant UCEC-US 17 27935228 27935228 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 17 27935228 27935228 single base substitution G A exon_variant UCEC-US 17 27935228 27935228 single base substitution G A missense_variant V131M 391G>A UCEC-US 17 27935228 27935228 single base substitution G A upstream_gene_variant UCEC-US 17 27935918 27935918 single base substitution G T exon_variant UCEC-US 17 27935918 27935918 single base substitution G T missense_variant K157N 471G>T UCEC-US 17 27935918 27935918 single base substitution G T missense_variant K25N 75G>T UCEC-US 17 27935918 27935918 single base substitution G T upstream_gene_variant UCEC-US 17 27935940 27935940 single base substitution G T exon_variant UCEC-US 17 27935940 27935940 single base substitution G T missense_variant D165Y 493G>T UCEC-US 17 27935940 27935940 single base substitution G T missense_variant D33Y 97G>T UCEC-US 17 27935940 27935940 single base substitution G T upstream_gene_variant UCEC-US 17 27936136 27936136 single base substitution G A downstream_gene_variant UCEC-US 17 27936136 27936136 single base substitution G A exon_variant UCEC-US 17 27936136 27936136 single base substitution G A missense_variant D200N 598G>A UCEC-US 17 27936136 27936136 single base substitution G A missense_variant D68N 202G>A UCEC-US 17 27936136 27936136 single base substitution G A upstream_gene_variant UCEC-US 17 27937736 27937736 single base substitution C T downstream_gene_variant UCEC-US 17 27937736 27937736 single base substitution C T exon_variant UCEC-US 17 27937736 27937736 single base substitution C T missense_variant R286C 856C>T UCEC-US 17 27937736 27937736 single base substitution C T upstream_gene_variant UCEC-US 17 27939150 27939150 single base substitution T C downstream_gene_variant UCEC-US 17 27939150 27939150 single base substitution T C exon_variant UCEC-US 17 27939150 27939150 single base substitution T C missense_variant W373R 1117T>C UCEC-US 17 27939150 27939150 single base substitution T C upstream_gene_variant UCEC-US 17 27939261 27939261 single base substitution C T downstream_gene_variant UCEC-US 17 27939261 27939261 single base substitution C T exon_variant UCEC-US 17 27939261 27939261 single base substitution C T missense_variant R410C 1228C>T UCEC-US 17 27939261 27939261 single base substitution C T upstream_gene_variant UCEC-US 17 27939427 27939427 single base substitution G A downstream_gene_variant UCEC-US 17 27939427 27939427 single base substitution G A exon_variant UCEC-US 17 27939427 27939427 single base substitution G A synonymous_variant P422P 1266G>A UCEC-US 17 27939427 27939427 single base substitution G A upstream_gene_variant UCEC-US 17 27943172 27943172 single base substitution G A downstream_gene_variant UCEC-US 17 27943753 27943753 single base substitution C A downstream_gene_variant UCEC-US 17 27945913 27945913 single base substitution G A downstream_gene_variant UCEC-US 17 27945918 27945918 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C5-A1MH-01 COSM4820921 c.1045G>C p.E349Q Substitution - Missense 17:29611951-29611951 + NB-1246 COSM1283412 c.1504_1506delGAC p.D506delD Deletion - In frame 17:29612744-29612746 + LAU165 COSM231756 c.116T>C p.V39A Substitution - Missense 17:29607743-29607743 + TCGA-AY-6197-01 COSM3691467 c.1556C>T p.A519V Substitution - Missense 17:29612796-29612796 + TCGA-AX-A0J0-01 COSM977210 c.471G>T p.K157N Substitution - Missense 17:29608900-29608900 + TCGA-EJ-5495-01 COSM1128773 c.212G>A p.G71D Substitution - Missense 17:29607839-29607839 + TCGA-HF-7133-01 COSM4065195 c.647G>A p.R216Q Substitution - Missense 17:29609167-29609167 + 35M COSM5580221 c.1845G>A p.L615L Substitution - coding silent 17:29613546-29613546 + TCGA-BR-4369-01 COSM4065196 c.706G>A p.A236T Substitution - Missense 17:29609226-29609226 + DN1401F COSM5961112 c.1849C>T p.R617C Substitution - Missense 17:29613550-29613550 + HCT-15 COSM1679681 c.263C>A p.A88D Substitution - Missense 17:29607998-29607998 + PTC-14C COSM4129809 c.1423G>A p.G475S Substitution - Missense 17:29612663-29612663 + TCGA-CG-4305-01 COSM4065197 c.794C>T p.T265M Substitution - Missense 17:29609393-29609393 + TCGA-D7-A4YU-01 COSM4065200 c.1248A>G p.P416P Substitution - coding silent 17:29612263-29612263 + TCGA-AA-3492-01 COSM3691468 c.1750C>T p.R584W Substitution - Missense 17:29613451-29613451 + TCGA-22-5489-01 COSM705751 c.241G>A p.G81S Substitution - Missense 17:29607868-29607868 + TCGA-63-6202-01 COSM705749 c.755+1G>T p.? Unknown 17:29609276-29609276 + CSCC-57-T COSM3889468 c.304C>T p.R102W Substitution - Missense 17:29608039-29608039 + TCGA-FU-A3YQ-01 COSM4823490 c.753G>C p.E251D Substitution - Missense 17:29609273-29609273 + TCGA-BS-A0UV-01 COSM977207 c.146G>A p.R49Q Substitution - Missense 17:29607773-29607773 + CSCC-7-T COSM4513086 c.926C>T p.S309F Substitution - Missense 17:29611600-29611600 + S00936 COSM309132 c.781C>T p.R261C Substitution - Missense 17:29609380-29609380 + B5 COSM1749933 c.1594C>T p.L532L Substitution - coding silent 17:29612905-29612905 + TCGA-D1-A103-01 COSM977208 c.214G>A p.A72T Substitution - Missense 17:29607841-29607841 + pfg016T COSM1640627 c.505C>A p.L169M Substitution - Missense 17:29608934-29608934 + TCGA-AA-3955-01 COSM297029 c.341C>G p.A114G Substitution - Missense 17:29608076-29608076 + HCC118T COSM5813604 c.737A>T p.K246M Substitution - Missense 17:29609257-29609257 + T3190 COSM4661758 c.1530C>T p.F510F Substitution - coding silent 17:29612770-29612770 + CSCC-44-T COSM4564239 c.1077_1078GG>AA p.M359_E360>IK Complex - compound substitution 17:29611983-29611984 + TCGA-FW-A3R5-06 COSM3889468 c.304C>T p.R102W Substitution - Missense 17:29608039-29608039 + SJBALL020824_D1 COSM4993861 c.945G>A p.E315E Substitution - coding silent 17:29611619-29611619 + TCGA-46-6026-01 COSM705750 c.474C>T p.S158S Substitution - coding silent 17:29608903-29608903 + L22 COSM5369498 c.1771C>T p.R591W Substitution - Missense 17:29613472-29613472 + TCGA-DR-A0ZM-01 COSM460387 c.1584C>T p.I528I Substitution - coding silent 17:29612895-29612895 + BD236T COSM5519469 c.322C>T p.R108W Substitution - Missense 17:29608057-29608057 + TCGA-B5-A0JY-01 COSM977216 c.1266G>A p.P422P Substitution - coding silent 17:29612409-29612409 + TCGA-HT-A616-01 COSM3969935 c.1243T>G p.F415V Substitution - Missense 17:29612258-29612258 + CHC892T COSM4795002 c.1729G>A p.G577S Substitution - Missense 17:29613430-29613430 + CHC1704T COSM4803996 c.87G>T p.E29D Substitution - Missense 17:29593708-29593708 + PD8609a COSM5782095 c.905-7C>G p.? Unknown 17:29611572-29611572 + TCGA-AP-A059-01 COSM977213 c.856C>T p.R286C Substitution - Missense 17:29610718-29610718 + TCGA-HU-A4GT-01 COSM4065202 c.1640G>A p.R547H Substitution - Missense 17:29612951-29612951 + KYSE-30 COSM4265461 c.1334C>T p.S445L Substitution - Missense 17:29612477-29612477 + TCGA-06-6701-01 COSM3402712 c.1443G>A p.A481A Substitution - coding silent 17:29612683-29612683 + CHC1704T COSM4803996 c.87G>T p.E29D Substitution - Missense 17:29593708-29593708 + 61 COSM2801968 c.1258+1G>A p.? Unknown 17:29612274-29612274 + pfg127T COSM4751724 c.1229G>A p.R410H Substitution - Missense 17:29612244-29612244 + PT36 COSM5916561 c.376-7C>T p.? Unknown 17:29608188-29608188 + TCGA-B5-A11N-01 COSM977214 c.1117T>C p.W373R Substitution - Missense 17:29612132-29612132 + 587350 COSM1182847 c.1816C>T p.R606W Substitution - Missense 17:29613517-29613517 + TCGA-D7-A4YV-01 COSM4065199 c.1057C>T p.R353C Substitution - Missense 17:29611963-29611963 + TCGA-61-2088-01 COSM115985 c.836C>G p.S279C Substitution - Missense 17:29610698-29610698 + TCGA-AP-A0LM-01 COSM977211 c.493G>T p.D165Y Substitution - Missense 17:29608922-29608922 + LS411 COSM4646543 c.1284C>T p.N428N Substitution - coding silent 17:29612427-29612427 + PTC-54C COSM297029 c.341C>G p.A114G Substitution - Missense 17:29608076-29608076 + CHC892T COSM4795002 c.1729G>A p.G577S Substitution - Missense 17:29613430-29613430 + CSCC-49-T COSM2801960 c.939C>T p.I313I Substitution - coding silent 17:29611613-29611613 + S02234 COSM5676039 c.1357G>A p.E453K Substitution - Missense 17:29612500-29612500 + HCC2998 COSM1679682 c.1024G>T p.E342* Substitution - Nonsense 17:29611930-29611930 + TCGA-B5-A11E-01 COSM977209 c.391G>A p.V131M Substitution - Missense 17:29608210-29608210 + TCGA-GJ-A6C0-01 COSM4930026 c.1879T>C p.*627Q Nonstop extension 17:29613580-29613580 + TCGA-AX-A0J1-01 COSM977215 c.1228C>T p.R410C Substitution - Missense 17:29612243-29612243 + TCGA-60-2698-01 COSM705748 c.814G>A p.E272K Substitution - Missense 17:29609413-29609413 + EGC15 COSM5055344 c.371G>A p.R124H Substitution - Missense 17:29608106-29608106 + TCGA-AU-6004-01 COSM1381856 c.1054A>G p.N352D Substitution - Missense 17:29611960-29611960 + BD135T COSM5516767 c.1194G>A p.A398A Substitution - coding silent 17:29612209-29612209 + HCC2998 COSM1679682 c.1024G>T p.E342* Substitution - Nonsense 17:29611930-29611930 + CHC892T COSM4795769 c.1687C>T p.P563S Substitution - Missense 17:29613388-29613388 + TCGA-HU-A4GX-01 COSM4065198 c.863G>A p.R288Q Substitution - Missense 17:29610725-29610725 + cSCCP4 COSM143523 c.146_147GG>AA p.R49Q Substitution - Missense 17:29607773-29607774 + 2521262 COSM2801947 c.350C>T p.P117L Substitution - Missense 17:29608085-29608085 + LUAD-D02185 COSM338550 c.1467C>A p.Y489* Substitution - Nonsense 17:29612707-29612707 + PTC-28C COSM4129811 c.1503G>C p.R501R Substitution - coding silent 17:29612743-29612743 + TCGA-BH-A0BZ-01 COSM436284 c.206C>T p.A69V Substitution - Missense 17:29607833-29607833 + PTC-14C COSM4129808 c.1417T>A p.C473S Substitution - Missense 17:29612657-29612657 + BD57T COSM2801955 c.708G>A p.A236A Substitution - coding silent 17:29609228-29609228 + TCGA-D5-6930-01 COSM1381854 c.777C>A p.G259G Substitution - coding silent 17:29609376-29609376 + TCGA-FP-A4BE-01 COSM4065194 c.351C>T p.P117P Substitution - coding silent 17:29608086-29608086 + TCGA-AU-6004-01 COSM3691466 c.665C>T p.A222V Substitution - Missense 17:29609185-29609185 + TCGA-12-3649-01 COSM3402711 c.1170T>A p.I390I Substitution - coding silent 17:29612185-29612185 + CHC892T COSM4795769 c.1687C>T p.P563S Substitution - Missense 17:29613388-29613388 + 37 COSM5733626 c.1385C>T p.S462F Substitution - Missense 17:29612528-29612528 + PD8609a COSM5782096 c.904+6G>A p.? Unknown 17:29610772-29610772 + 587278 COSM1182846 c.170C>T p.T57M Substitution - Missense 17:29607797-29607797 + PD11462a COSM5783093 c.978C>T p.I326I Substitution - coding silent 17:29611884-29611884 + TCGA-B5-A0JY-01 COSM977212 c.598G>A p.D200N Substitution - Missense 17:29609118-29609118 + 587318 COSM1182845 c.904G>A p.G302S Substitution - Missense 17:29610766-29610766 + PTC-70C COSM4129812 c.1831G>A p.E611K Substitution - Missense 17:29613532-29613532 + 2292380 COSM4609968 c.1546C>A p.L516M Substitution - Missense 17:29612786-29612786 + TCGA-GC-A3I6-01 COSM1302587 c.276G>A p.R92R Substitution - coding silent 17:29608011-29608011 + PTC-28C COSM4129810 c.1500C>G p.T500T Substitution - coding silent 17:29612740-29612740 + LS411 COSM2801963 c.1114C>T p.L372L Substitution - coding silent 17:29612129-29612129 + TCGA-BR-6452-01 COSM4065201 c.1477G>A p.G493S Substitution - Missense 17:29612717-29612717 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.662153;Hs.662154;Hs.662155;Hs.662156;Hs.662157;Hs.662158;Hs.662159;Hs.662162;Hs.662163;Hs.662164 17q11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.904+11A>C 17 27937795 STAD A G Missense p.T83A c.247A>G 17 27934892 RCCC C A Missense p.L169M c.505C>A 17 27935952 STAD CC TT Missense p.T235I c.704_705delinsTT 17 27936242 CM CC TT Synonymous p.(=) c.153_154delinsTT 17 27934798 CM C G Missense p.S279C c.836C>G 17 27937716 OV C T Missense p.A499V c.1496C>T 17 27939754 HNSC C T Missense p.A69V c.206C>T 17 27934851 BRCA C T Missense p.R261C c.781C>T 17 27936398 SCLC C T Missense p.T265M c.794C>T 17 27936411 STAD C T Synonymous p.S158S c.474C>T 17 27935921 LUSC GAC - InFrameDeletion p.D506delD c.1516_1518delGAC 17 27939762 NB G A IntronicSNV . c.114+3299G>A 17 27924052 CLL G A Missense p.A236T c.706G>A 17 27936244 STAD G A Missense p.G71D c.212G>A 17 27934857 PRAD G A Missense p.G81S c.241G>A 17 27934886 LUSC G A Missense p.V74M c.220G>A 17 27934865 STAD G A Synonymous p.A481A c.1443G>A 17 27939701 GBM G A Synonymous p.R288R c.864G>A 17 27937744 HNSC G A Synonymous p.R92R c.276G>A 17 27935029 BLCA G A Synonymous p.V268V c.804G>A 17 27936421 LUAD G T Nonsense p.E95* c.283G>T 17 27935036 LUAD G T SpliceDonorSNV . c.755+1G>T 17 27936294 LUSC T A Synonymous p.I390I c.1170T>A 17 27939203 GBM