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 27943163 27943163 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr17:27943163C>T c.1093G>A c.(1093-1095)Gat>Aat p.D365N BLCA 17 27943318 27943318 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr17:27943318G>A c.1041C>T c.(1039-1041)atC>atT p.I347I BLCA 17 27943797 27943797 + Silent SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr17:27943797G>A c.927C>T c.(925-927)ttC>ttT p.F309F BLCA 17 27943829 27943829 + Missense_Mutation SNP C C T TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr17:27943829C>T c.895G>A c.(895-897)Gag>Aag p.E299K BLCA 17 27944540 27944540 + Intron SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr17:27944540C>T BLCA 17 27944561 27944561 + Intron SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:27944561C>T BLCA 17 27945821 27945821 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr17:27945821C>T c.620G>A c.(619-621)gGc>gAc p.G207D BLCA 17 27945892 27945892 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr17:27945892C>T c.549G>A c.(547-549)tgG>tgA p.W183* BLCA 17 27946116 27946116 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr17:27946116G>C c.413C>G c.(412-414)tCc>tGc p.S138C BLCA 17 27946710 27946710 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr17:27946710C>T c.280G>A c.(280-282)Gac>Aac p.D94N BLCA 17 27946728 27946728 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr17:27946728C>G c.262G>C c.(262-264)Gac>Cac p.D88H BRCA 17 27946110 27946110 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr17:27946110T>G c.419A>C c.(418-420)cAc>cCc p.H140P BRCA 17 27946141 27946142 + Frame_Shift_Del DEL GG GG - TCGA-B6-A0IK-01A-12W-A071-09 TCGA-B6-A0IK-10A-01W-A071-09 g.chr17:27946141_27946142delGG c.387_388delCC c.(385-390)ggccacfs p.H130fs BRCA 17 27948283 27948283 + Frame_Shift_Del DEL C C - TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 g.chr17:27948283delC c.157delG c.(157-159)gctfs p.A53fs BRCA 17 27948434 27948434 + Silent SNP G G A TCGA-AN-A0FK-01A-11W-A050-09 TCGA-AN-A0FK-10A-01W-A055-09 g.chr17:27948434G>A c.6C>T c.(4-6)agC>agT p.S2S CESC 17 27943318 27943318 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr17:27943318G>A c.1041C>T c.(1039-1041)atC>atT p.I347I CESC 17 27943334 27943334 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:27943334C>G c.1025G>C c.(1024-1026)aGa>aCa p.R342T CESC 17 27946167 27946167 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr17:27946167G>A c.362C>T c.(361-363)aCg>aTg p.T121M COAD 17 27943778 27943778 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr17:27943778G>A c.946C>T c.(946-948)Cgg>Tgg p.R316W COAD 17 27943782 27943782 + Silent SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr17:27943782C>T c.942G>A c.(940-942)ccG>ccA p.P314P COAD 17 27943799 27943799 + Missense_Mutation SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr17:27943799A>G c.925T>C c.(925-927)Ttc>Ctc p.F309L COAD 17 27943992 27943992 + Silent SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr17:27943992G>A c.822C>T c.(820-822)taC>taT p.Y274Y COAD 17 27945838 27945838 + Silent SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:27945838G>T c.603C>A c.(601-603)atC>atA p.I201I COAD 17 27946132 27946132 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:27946132G>A c.397C>T c.(397-399)Cgt>Tgt p.R133C COAD 17 27948270 27948270 + Frame_Shift_Del DEL C C - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:27948270delC c.170delG c.(169-171)ggtfs p.G57fs COAD 17 27948317 27948317 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:27948317G>A c.123C>T c.(121-123)gcC>gcT p.A41A COADREAD 17 27943778 27943778 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr17:27943778G>A c.946C>T c.(946-948)Cgg>Tgg p.R316W COADREAD 17 27943782 27943782 + Silent SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr17:27943782C>T c.942G>A c.(940-942)ccG>ccA p.P314P COADREAD 17 27943799 27943799 + Missense_Mutation SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr17:27943799A>G c.925T>C c.(925-927)Ttc>Ctc p.F309L COADREAD 17 27943992 27943992 + Silent SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr17:27943992G>A c.822C>T c.(820-822)taC>taT p.Y274Y COADREAD 17 27945838 27945838 + Silent SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:27945838G>T c.603C>A c.(601-603)atC>atA p.I201I COADREAD 17 27946079 27946079 + Splice_Site SNP T T A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr17:27946079T>A c.450A>T c.(448-450)gcA>gcT p.A150A COADREAD 17 27946132 27946132 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:27946132G>A c.397C>T c.(397-399)Cgt>Tgt p.R133C COADREAD 17 27948270 27948270 + Frame_Shift_Del DEL C C - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:27948270delC c.170delG c.(169-171)ggtfs p.G57fs COADREAD 17 27948317 27948317 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:27948317G>A c.123C>T c.(121-123)gcC>gcT p.A41A ESCA 17 27948355 27948355 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr17:27948355G>A c.85C>T c.(85-87)Cgt>Tgt p.R29C GBMLGG 17 27946150 27946150 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27946150G>A c.379C>T c.(379-381)Ctt>Ttt p.L127F HNSC 17 27943185 27943185 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr17:27943185G>A c.1071C>T c.(1069-1071)ctC>ctT p.L357L HNSC 17 27943190 27943190 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr17:27943190C>G c.1066G>C c.(1066-1068)Gac>Cac p.D356H HNSC 17 27944056 27944056 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr17:27944056T>C c.758A>G c.(757-759)aAc>aGc p.N253S KIPAN 17 27943974 27943974 + Silent SNP G G A TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr17:27943974G>A c.840C>T c.(838-840)atC>atT p.I280I KIRP 17 27943974 27943974 + Silent SNP G G A TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr17:27943974G>A c.840C>T c.(838-840)atC>atT p.I280I LGG 17 27946150 27946150 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27946150G>A c.379C>T c.(379-381)Ctt>Ttt p.L127F LIHC 17 27943827 27943828 + Frame_Shift_Del DEL CT CT - TCGA-FV-A2QQ-01A-11D-A22F-10 TCGA-FV-A2QQ-10B-01D-A22F-10 g.chr17:27943827_27943828delCT c.896_897delAG c.(895-897)gagfs p.E299fs LUAD 17 27943986 27943986 + Silent SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr17:27943986G>T c.828C>A c.(826-828)ccC>ccA p.P276P LUAD 17 27944540 27944540 + Intron SNP C C T TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr17:27944540C>T LUAD 17 27944550 27944550 + Intron SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr17:27944550T>A LUAD 17 27945929 27945929 + Missense_Mutation SNP T T A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr17:27945929T>A c.512A>T c.(511-513)gAt>gTt p.D171V LUAD 17 27948283 27948283 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr17:27948283C>G c.157G>C c.(157-159)Gct>Cct p.A53P LUSC 17 27944061 27944061 + Splice_Site SNP C C T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr17:27944061C>T c.e6-1 LUSC 17 27944542 27944542 + Intron SNP C C G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr17:27944542C>G PRAD 17 27943827 27943827 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:27943827C>T c.897G>A c.(895-897)gaG>gaA p.E299E PRAD 17 27943974 27943974 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:27943974G>A c.840C>T c.(838-840)atC>atT p.I280I PRAD 17 27945843 27945843 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:27945843G>A c.598C>T c.(598-600)Cgc>Tgc p.R200C READ 17 27946079 27946079 + Splice_Site SNP T T A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chr17:27946079T>A c.450A>T c.(448-450)gcA>gcT p.A150A SKCM 17 27943157 27943157 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:27943157G>A c.1099C>T c.(1099-1101)Cca>Tca p.P367S SKCM 17 27943746 27943746 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr17:27943746C>T c.978G>A c.(976-978)ctG>ctA p.L326L SKCM 17 27946683 27946683 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:27946683C>T c.307G>A c.(307-309)Gac>Aac p.D103N

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 3_prime_UTR_variant BLCA-CN 17 27943769 27943769 single base substitution C G downstream_gene_variant BLCA-CN 17 27943769 27943769 single base substitution C G exon_variant BLCA-CN 17 27943769 27943769 single base substitution C G missense_variant G279R 835G>C BLCA-CN 17 27943769 27943769 single base substitution C G missense_variant G319R 955G>C BLCA-CN 17 27943769 27943769 single base substitution C G missense_variant G85R 253G>C BLCA-US 17 27943163 27943163 single base substitution C T 3_prime_UTR_variant BLCA-US 17 27943163 27943163 single base substitution C T downstream_gene_variant BLCA-US 17 27943163 27943163 single base substitution C T exon_variant BLCA-US 17 27943163 27943163 single base substitution C T missense_variant D131N 391G>A BLCA-US 17 27943163 27943163 single base substitution C T missense_variant D325N 973G>A BLCA-US 17 27943163 27943163 single base substitution C T missense_variant D365N 1093G>A BLCA-US 17 27943318 27943318 single base substitution G A 3_prime_UTR_variant BLCA-US 17 27943318 27943318 single base substitution G A downstream_gene_variant BLCA-US 17 27943318 27943318 single base substitution G A exon_variant BLCA-US 17 27943318 27943318 single base substitution G A synonymous_variant I113I 339C>T BLCA-US 17 27943318 27943318 single base substitution G A synonymous_variant I307I 921C>T BLCA-US 17 27943318 27943318 single base substitution G A synonymous_variant I347I 1041C>T BLCA-US 17 27945821 27945821 single base substitution C T downstream_gene_variant BLCA-US 17 27945821 27945821 single base substitution C T exon_variant BLCA-US 17 27945821 27945821 single base substitution C T intron_variant BLCA-US 17 27945821 27945821 single base substitution C T missense_variant G207D 620G>A BLCA-US 17 27945821 27945821 single base substitution C T upstream_gene_variant BLCA-US 17 27945892 27945892 single base substitution C T downstream_gene_variant BLCA-US 17 27945892 27945892 single base substitution C T exon_variant BLCA-US 17 27945892 27945892 single base substitution C T intron_variant BLCA-US 17 27945892 27945892 single base substitution C T stop_gained W183* 549G>A BLCA-US 17 27945892 27945892 single base substitution C T upstream_gene_variant BLCA-US 17 27946116 27946116 single base substitution G C exon_variant BLCA-US 17 27946116 27946116 single base substitution G C intron_variant BLCA-US 17 27946116 27946116 single base substitution G C missense_variant S138C 413C>G BLCA-US 17 27946116 27946116 single base substitution G C missense_variant S32C 95C>G BLCA-US 17 27946116 27946116 single base substitution G C upstream_gene_variant BLCA-US 17 27946710 27946710 single base substitution C T 5_prime_UTR_variant BLCA-US 17 27946710 27946710 single base substitution C T exon_variant BLCA-US 17 27946710 27946710 single base substitution C T intron_variant BLCA-US 17 27946710 27946710 single base substitution C T missense_variant D94N 280G>A BLCA-US 17 27946710 27946710 single base substitution C T upstream_gene_variant BOCA-UK 17 27948289 27948289 single base substitution C A exon_variant BOCA-UK 17 27948289 27948289 single base substitution C A intron_variant BOCA-UK 17 27948289 27948289 single base substitution C A missense_variant V51L 151G>T BOCA-UK 17 27948289 27948289 single base substitution C A upstream_gene_variant BRCA-EU 17 27937030 27937030 single base substitution G T downstream_gene_variant BRCA-EU 17 27937790 27937790 single base substitution G A downstream_gene_variant BRCA-EU 17 27937846 27937846 single base substitution C T downstream_gene_variant BRCA-EU 17 27937891 27937891 single base substitution G A downstream_gene_variant BRCA-EU 17 27938274 27938274 single base substitution G A downstream_gene_variant BRCA-EU 17 27938327 27938327 single base substitution C T downstream_gene_variant BRCA-EU 17 27938345 27938345 single base substitution C G downstream_gene_variant BRCA-EU 17 27938403 27938403 single base substitution C G downstream_gene_variant BRCA-EU 17 27938590 27938590 single base substitution C G downstream_gene_variant BRCA-EU 17 27938830 27938830 single base substitution C T downstream_gene_variant BRCA-EU 17 27938902 27938902 single base substitution C T downstream_gene_variant BRCA-EU 17 27939314 27939314 single base substitution C T downstream_gene_variant BRCA-EU 17 27940430 27940430 single base substitution C T downstream_gene_variant BRCA-EU 17 27940920 27940920 single base substitution C T downstream_gene_variant BRCA-EU 17 27941193 27941193 single base substitution C G downstream_gene_variant BRCA-EU 17 27944266 27944266 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 27944266 27944266 single base substitution C T downstream_gene_variant BRCA-EU 17 27944266 27944266 single base substitution C T exon_variant BRCA-EU 17 27944266 27944266 single base substitution C T intron_variant BRCA-EU 17 27944266 27944266 single base substitution C T synonymous_variant A15A 45G>A BRCA-EU 17 27946371 27946371 single base substitution C T intron_variant BRCA-EU 17 27946371 27946371 single base substitution C T upstream_gene_variant BRCA-EU 17 27947020 27947020 single base substitution A G intron_variant BRCA-EU 17 27947020 27947020 single base substitution A G upstream_gene_variant BRCA-EU 17 27948451 27948451 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 27948451 27948451 single base substitution G C intron_variant BRCA-EU 17 27948451 27948451 single base substitution G C upstream_gene_variant BRCA-EU 17 27949449 27949449 single base substitution G T intron_variant BRCA-EU 17 27949449 27949449 single base substitution G T upstream_gene_variant BRCA-EU 17 27951053 27951054 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 17 27951540 27951540 single base substitution G A upstream_gene_variant BRCA-EU 17 27952215 27952215 single base substitution G T upstream_gene_variant BRCA-EU 17 27952941 27952941 single base substitution C G upstream_gene_variant BRCA-EU 17 27953034 27953035 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 17 27954486 27954486 single base substitution G A upstream_gene_variant BRCA-EU 17 27954913 27954913 single base substitution C G upstream_gene_variant BRCA-FR 17 27938830 27938830 single base substitution C T downstream_gene_variant BRCA-FR 17 27940568 27940568 single base substitution C T downstream_gene_variant BRCA-FR 17 27951540 27951540 single base substitution G A upstream_gene_variant BRCA-FR 17 27952215 27952215 single base substitution G T upstream_gene_variant BRCA-FR 17 27952941 27952941 single base substitution C G upstream_gene_variant BRCA-UK 17 27937846 27937846 single base substitution C T downstream_gene_variant BRCA-UK 17 27944031 27944031 single base substitution C T 3_prime_UTR_variant BRCA-UK 17 27944031 27944031 single base substitution C T downstream_gene_variant BRCA-UK 17 27944031 27944031 single base substitution C T exon_variant BRCA-UK 17 27944031 27944031 single base substitution C T intron_variant BRCA-UK 17 27944031 27944031 single base substitution C T synonymous_variant Q221Q 663G>A BRCA-UK 17 27944031 27944031 single base substitution C T synonymous_variant Q261Q 783G>A BRCA-UK 17 27944031 27944031 single base substitution C T synonymous_variant Q27Q 81G>A BRCA-US 17 27946110 27946110 single base substitution T G exon_variant BRCA-US 17 27946110 27946110 single base substitution T G intron_variant BRCA-US 17 27946110 27946110 single base substitution T G missense_variant H140P 419A>C BRCA-US 17 27946110 27946110 single base substitution T G missense_variant H34P 101A>C BRCA-US 17 27946110 27946110 single base substitution T G upstream_gene_variant BRCA-US 17 27946141 27946142 deletion of <=200bp GG - exon_variant BRCA-US 17 27946141 27946142 deletion of <=200bp GG - frameshift_variant GH129 BRCA-US 17 27946141 27946142 deletion of <=200bp GG - frameshift_variant GH23 BRCA-US 17 27946141 27946142 deletion of <=200bp GG - intron_variant BRCA-US 17 27946141 27946142 deletion of <=200bp GG - upstream_gene_variant BRCA-US 17 27948283 27948283 deletion of <=200bp C - exon_variant BRCA-US 17 27948283 27948283 deletion of <=200bp C - frameshift_variant A53 BRCA-US 17 27948283 27948283 deletion of <=200bp C - intron_variant BRCA-US 17 27948283 27948283 deletion of <=200bp C - upstream_gene_variant BRCA-US 17 27948434 27948434 single base substitution G A exon_variant BRCA-US 17 27948434 27948434 single base substitution G A intron_variant BRCA-US 17 27948434 27948434 single base substitution G A synonymous_variant S2S 6C>T BRCA-US 17 27948434 27948434 single base substitution G A upstream_gene_variant BRCA-US 17 27949760 27949760 single base substitution C T 5_prime_UTR_variant BRCA-US 17 27949760 27949760 single base substitution C T exon_variant BRCA-US 17 27949760 27949760 single base substitution C T upstream_gene_variant BTCA-JP 17 27939227 27939227 single base substitution G A downstream_gene_variant CESC-US 17 27938969 27938969 single base substitution G C downstream_gene_variant CESC-US 17 27939913 27939913 single base substitution C T downstream_gene_variant CESC-US 17 27940575 27940575 single base substitution T A downstream_gene_variant CESC-US 17 27943318 27943318 single base substitution G A 3_prime_UTR_variant CESC-US 17 27943318 27943318 single base substitution G A downstream_gene_variant CESC-US 17 27943318 27943318 single base substitution G A exon_variant CESC-US 17 27943318 27943318 single base substitution G A synonymous_variant I113I 339C>T CESC-US 17 27943318 27943318 single base substitution G A synonymous_variant I307I 921C>T CESC-US 17 27943318 27943318 single base substitution G A synonymous_variant I347I 1041C>T CESC-US 17 27943334 27943334 single base substitution C G 3_prime_UTR_variant CESC-US 17 27943334 27943334 single base substitution C G downstream_gene_variant CESC-US 17 27943334 27943334 single base substitution C G exon_variant CESC-US 17 27943334 27943334 single base substitution C G missense_variant R108T 323G>C CESC-US 17 27943334 27943334 single base substitution C G missense_variant R302T 905G>C CESC-US 17 27943334 27943334 single base substitution C G missense_variant R342T 1025G>C CESC-US 17 27946167 27946167 single base substitution G A exon_variant CESC-US 17 27946167 27946167 single base substitution G A intron_variant CESC-US 17 27946167 27946167 single base substitution G A missense_variant T121M 362C>T CESC-US 17 27946167 27946167 single base substitution G A missense_variant T15M 44C>T CESC-US 17 27946167 27946167 single base substitution G A upstream_gene_variant COAD-US 17 27938978 27938978 single base substitution A G downstream_gene_variant COAD-US 17 27939814 27939814 single base substitution C T downstream_gene_variant COAD-US 17 27940469 27940469 single base substitution C T downstream_gene_variant COAD-US 17 27943778 27943778 single base substitution G A 3_prime_UTR_variant COAD-US 17 27943778 27943778 single base substitution G A downstream_gene_variant COAD-US 17 27943778 27943778 single base substitution G A exon_variant COAD-US 17 27943778 27943778 single base substitution G A missense_variant R276W 826C>T COAD-US 17 27943778 27943778 single base substitution G A missense_variant R316W 946C>T COAD-US 17 27943778 27943778 single base substitution G A missense_variant R82W 244C>T COAD-US 17 27943782 27943782 single base substitution C T 3_prime_UTR_variant COAD-US 17 27943782 27943782 single base substitution C T downstream_gene_variant COAD-US 17 27943782 27943782 single base substitution C T exon_variant COAD-US 17 27943782 27943782 single base substitution C T synonymous_variant P274P 822G>A COAD-US 17 27943782 27943782 single base substitution C T synonymous_variant P314P 942G>A COAD-US 17 27943782 27943782 single base substitution C T synonymous_variant P80P 240G>A COAD-US 17 27945951 27945951 single base substitution C T exon_variant COAD-US 17 27945951 27945951 single base substitution C T intron_variant COAD-US 17 27945951 27945951 single base substitution C T missense_variant G164R 490G>A COAD-US 17 27945951 27945951 single base substitution C T missense_variant G58R 172G>A COAD-US 17 27945951 27945951 single base substitution C T upstream_gene_variant COAD-US 17 27946132 27946132 single base substitution G A exon_variant COAD-US 17 27946132 27946132 single base substitution G A intron_variant COAD-US 17 27946132 27946132 single base substitution G A missense_variant R133C 397C>T COAD-US 17 27946132 27946132 single base substitution G A missense_variant R27C 79C>T COAD-US 17 27946132 27946132 single base substitution G A upstream_gene_variant COAD-US 17 27948317 27948317 single base substitution G A exon_variant COAD-US 17 27948317 27948317 single base substitution G A intron_variant COAD-US 17 27948317 27948317 single base substitution G A synonymous_variant A41A 123C>T COAD-US 17 27948317 27948317 single base substitution G A upstream_gene_variant COCA-CN 17 27937551 27937551 single base substitution G T downstream_gene_variant COCA-CN 17 27937559 27937559 single base substitution G T downstream_gene_variant COCA-CN 17 27942797 27942797 single base substitution T A 3_prime_UTR_variant COCA-CN 17 27942797 27942797 single base substitution T A downstream_gene_variant COCA-CN 17 27942797 27942797 single base substitution T A exon_variant COCA-CN 17 27942797 27942797 single base substitution T A missense_variant T223S 667A>T COCA-CN 17 27942797 27942797 single base substitution T A missense_variant T418S 1252A>T COCA-CN 17 27942797 27942797 single base substitution T A missense_variant T457S 1369A>T COCA-CN 17 27942797 27942797 single base substitution T A missense_variant T458S 1372A>T COCA-CN 17 27945922 27945922 single base substitution C T exon_variant COCA-CN 17 27945922 27945922 single base substitution C T intron_variant COCA-CN 17 27945922 27945922 single base substitution C T missense_variant M173I 519G>A COCA-CN 17 27945922 27945922 single base substitution C T missense_variant M67I 201G>A COCA-CN 17 27945922 27945922 single base substitution C T upstream_gene_variant COCA-CN 17 27949921 27949921 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 17 27949921 27949921 single base substitution C A exon_variant COCA-CN 17 27949921 27949921 single base substitution C A upstream_gene_variant ESAD-UK 17 27937329 27937329 single base substitution C T downstream_gene_variant ESAD-UK 17 27938549 27938549 single base substitution G T downstream_gene_variant ESAD-UK 17 27940543 27940543 single base substitution G A downstream_gene_variant ESAD-UK 17 27942557 27942557 single base substitution C A 3_prime_UTR_variant ESAD-UK 17 27942557 27942557 single base substitution C A downstream_gene_variant ESAD-UK 17 27942557 27942557 single base substitution C A exon_variant ESAD-UK 17 27944272 27944272 single base substitution G T 3_prime_UTR_variant ESAD-UK 17 27944272 27944272 single base substitution G T downstream_gene_variant ESAD-UK 17 27944272 27944272 single base substitution G T exon_variant ESAD-UK 17 27944272 27944272 single base substitution G T intron_variant ESAD-UK 17 27944272 27944272 single base substitution G T stop_gained C13* 39C>A ESAD-UK 17 27945388 27945388 single base substitution G A downstream_gene_variant ESAD-UK 17 27945388 27945388 single base substitution G A exon_variant ESAD-UK 17 27945388 27945388 single base substitution G A intron_variant ESAD-UK 17 27945388 27945388 single base substitution G A upstream_gene_variant ESAD-UK 17 27946223 27946223 single base substitution A G intron_variant ESAD-UK 17 27946223 27946223 single base substitution A G upstream_gene_variant ESAD-UK 17 27947109 27947109 single base substitution A T intron_variant ESAD-UK 17 27947109 27947109 single base substitution A T upstream_gene_variant ESAD-UK 17 27947308 27947308 insertion of <=200bp - T intron_variant ESAD-UK 17 27947308 27947308 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 27947607 27947607 deletion of <=200bp G - intron_variant ESAD-UK 17 27947607 27947607 deletion of <=200bp G - upstream_gene_variant ESAD-UK 17 27948368 27948368 single base substitution G C exon_variant ESAD-UK 17 27948368 27948368 single base substitution G C intron_variant ESAD-UK 17 27948368 27948368 single base substitution G C synonymous_variant A24A 72C>G ESAD-UK 17 27948368 27948368 single base substitution G C upstream_gene_variant ESAD-UK 17 27948803 27948803 single base substitution G A intron_variant ESAD-UK 17 27948803 27948803 single base substitution G A upstream_gene_variant ESAD-UK 17 27950590 27950590 single base substitution T C upstream_gene_variant ESAD-UK 17 27951841 27951841 single base substitution G A upstream_gene_variant ESAD-UK 17 27952042 27952042 single base substitution C G upstream_gene_variant ESAD-UK 17 27953385 27953385 single base substitution C T upstream_gene_variant ESCA-CN 17 27944639 27944639 insertion of <=200bp - G downstream_gene_variant ESCA-CN 17 27944639 27944639 insertion of <=200bp - G exon_variant ESCA-CN 17 27944639 27944639 insertion of <=200bp - G intron_variant ESCA-CN 17 27944639 27944639 insertion of <=200bp - G splice_acceptor_variant ESCA-CN 17 27944639 27944639 insertion of <=200bp - G upstream_gene_variant ESCA-CN 17 27953296 27953296 single base substitution G A upstream_gene_variant ESCA-CN 17 27953300 27953300 single base substitution G A upstream_gene_variant GBM-US 17 27939203 27939203 single base substitution T A downstream_gene_variant GBM-US 17 27939701 27939701 single base substitution G A downstream_gene_variant KIRP-US 17 27948314 27948314 single base substitution G A exon_variant KIRP-US 17 27948314 27948314 single base substitution G A intron_variant KIRP-US 17 27948314 27948314 single base substitution G A synonymous_variant V42V 126C>T KIRP-US 17 27948314 27948314 single base substitution G A upstream_gene_variant LGG-US 17 27939276 27939276 single base substitution T G downstream_gene_variant LICA-FR 17 27940406 27940406 single base substitution C T downstream_gene_variant LICA-FR 17 27940448 27940448 single base substitution G A downstream_gene_variant LICA-FR 17 27944608 27944608 single base substitution C T downstream_gene_variant LICA-FR 17 27944608 27944608 single base substitution C T exon_variant LICA-FR 17 27944608 27944608 single base substitution C T intron_variant LICA-FR 17 27944608 27944608 single base substitution C T synonymous_variant R221R 663G>A LICA-FR 17 27944608 27944608 single base substitution C T upstream_gene_variant LICA-FR 17 27946683 27946683 single base substitution C G 5_prime_UTR_variant LICA-FR 17 27946683 27946683 single base substitution C G exon_variant LICA-FR 17 27946683 27946683 single base substitution C G intron_variant LICA-FR 17 27946683 27946683 single base substitution C G missense_variant D103H 307G>C LICA-FR 17 27946683 27946683 single base substitution C G upstream_gene_variant LICA-FR 17 27949272 27949272 single base substitution A C intron_variant LICA-FR 17 27949272 27949272 single base substitution A C upstream_gene_variant LICA-FR 17 27949773 27949773 single base substitution G A 5_prime_UTR_variant LICA-FR 17 27949773 27949773 single base substitution G A exon_variant LICA-FR 17 27949773 27949773 single base substitution G A upstream_gene_variant LICA-FR 17 27949881 27949881 single base substitution G T 5_prime_UTR_variant LICA-FR 17 27949881 27949881 single base substitution G T exon_variant LICA-FR 17 27949881 27949881 single base substitution G T upstream_gene_variant LIHC-US 17 27940598 27940598 single base substitution T C downstream_gene_variant LIHC-US 17 27943827 27943828 deletion of <=200bp CT - 3_prime_UTR_variant LIHC-US 17 27943827 27943828 deletion of <=200bp CT - downstream_gene_variant LIHC-US 17 27943827 27943828 deletion of <=200bp CT - exon_variant LIHC-US 17 27943827 27943828 deletion of <=200bp CT - frameshift_variant E259 LIHC-US 17 27943827 27943828 deletion of <=200bp CT - frameshift_variant E299 LIHC-US 17 27943827 27943828 deletion of <=200bp CT - frameshift_variant E65 LINC-JP 17 27938541 27938541 single base substitution G T downstream_gene_variant LINC-JP 17 27941078 27941078 single base substitution C T downstream_gene_variant LINC-JP 17 27946278 27946278 deletion of <=200bp T - intron_variant LINC-JP 17 27946278 27946278 deletion of <=200bp T - upstream_gene_variant LINC-JP 17 27946858 27946858 single base substitution T C intron_variant LINC-JP 17 27946858 27946858 single base substitution T C upstream_gene_variant LINC-JP 17 27947926 27947926 single base substitution A C intron_variant LINC-JP 17 27947926 27947926 single base substitution A C upstream_gene_variant LINC-JP 17 27954107 27954107 single base substitution C A upstream_gene_variant LIRI-JP 17 27938374 27938374 single base substitution G A downstream_gene_variant LIRI-JP 17 27940406 27940406 deletion of <=200bp C - downstream_gene_variant LIRI-JP 17 27946290 27946290 single base substitution C A intron_variant LIRI-JP 17 27946290 27946290 single base substitution C A upstream_gene_variant LIRI-JP 17 27949246 27949246 single base substitution G T intron_variant LIRI-JP 17 27949246 27949246 single base substitution G T upstream_gene_variant LIRI-JP 17 27952977 27952977 single base substitution T C upstream_gene_variant LIRI-JP 17 27953692 27953692 single base substitution T A upstream_gene_variant LIRI-JP 17 27953916 27953916 single base substitution C T upstream_gene_variant LUSC-KR 17 27940635 27940635 single base substitution C T downstream_gene_variant LUSC-KR 17 27942197 27942197 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 27942197 27942197 single base substitution G A downstream_gene_variant LUSC-KR 17 27942197 27942197 single base substitution G A exon_variant LUSC-KR 17 27943689 27943689 single base substitution T G downstream_gene_variant LUSC-KR 17 27943689 27943689 single base substitution T G intron_variant LUSC-KR 17 27944969 27944969 single base substitution C T downstream_gene_variant LUSC-KR 17 27944969 27944969 single base substitution C T exon_variant LUSC-KR 17 27944969 27944969 single base substitution C T intron_variant LUSC-KR 17 27944969 27944969 single base substitution C T upstream_gene_variant LUSC-KR 17 27947168 27947168 single base substitution A G intron_variant LUSC-KR 17 27947168 27947168 single base substitution A G upstream_gene_variant LUSC-KR 17 27947211 27947211 single base substitution C T intron_variant LUSC-KR 17 27947211 27947211 single base substitution C T upstream_gene_variant LUSC-US 17 27944061 27944061 single base substitution C T downstream_gene_variant LUSC-US 17 27944061 27944061 single base substitution C T exon_variant LUSC-US 17 27944061 27944061 single base substitution C T intron_variant LUSC-US 17 27944061 27944061 single base substitution C T splice_acceptor_variant LUSC-US 17 27944542 27944542 single base substitution C G downstream_gene_variant LUSC-US 17 27944542 27944542 single base substitution C G exon_variant LUSC-US 17 27944542 27944542 single base substitution C G intron_variant LUSC-US 17 27944542 27944542 single base substitution C G missense_variant Q243H 729G>C LUSC-US 17 27944542 27944542 single base substitution C G upstream_gene_variant MALY-DE 17 27938643 27938643 single base substitution C T downstream_gene_variant MALY-DE 17 27948274 27948274 single base substitution C T exon_variant MALY-DE 17 27948274 27948274 single base substitution C T intron_variant MALY-DE 17 27948274 27948274 single base substitution C T missense_variant G56R 166G>A MALY-DE 17 27948274 27948274 single base substitution C T upstream_gene_variant MALY-DE 17 27948419 27948419 single base substitution C T exon_variant MALY-DE 17 27948419 27948419 single base substitution C T intron_variant MALY-DE 17 27948419 27948419 single base substitution C T synonymous_variant R7R 21G>A MALY-DE 17 27948419 27948419 single base substitution C T upstream_gene_variant MALY-DE 17 27949156 27949156 single base substitution C T intron_variant MALY-DE 17 27949156 27949156 single base substitution C T upstream_gene_variant MELA-AU 17 27937161 27937161 single base substitution G A downstream_gene_variant MELA-AU 17 27938708 27938708 single base substitution C T downstream_gene_variant MELA-AU 17 27939033 27939033 single base substitution C T downstream_gene_variant MELA-AU 17 27939397 27939398 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 27939509 27939509 single base substitution C T downstream_gene_variant MELA-AU 17 27939875 27939875 single base substitution G A downstream_gene_variant MELA-AU 17 27940885 27940885 single base substitution G A downstream_gene_variant MELA-AU 17 27941203 27941204 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 17 27942619 27942620 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 27942619 27942620 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 27942619 27942620 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 27943237 27943237 single base substitution G A downstream_gene_variant MELA-AU 17 27943237 27943237 single base substitution G A intron_variant MELA-AU 17 27943263 27943263 single base substitution G A downstream_gene_variant MELA-AU 17 27943263 27943263 single base substitution G A intron_variant MELA-AU 17 27944116 27944117 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 27944116 27944117 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 27944116 27944117 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 27944369 27944370 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 27944369 27944370 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 27944369 27944370 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 27945398 27945398 single base substitution G A downstream_gene_variant MELA-AU 17 27945398 27945398 single base substitution G A exon_variant MELA-AU 17 27945398 27945398 single base substitution G A intron_variant MELA-AU 17 27945398 27945398 single base substitution G A upstream_gene_variant MELA-AU 17 27945722 27945722 single base substitution G A downstream_gene_variant MELA-AU 17 27945722 27945722 single base substitution G A exon_variant MELA-AU 17 27945722 27945722 single base substitution G A intron_variant MELA-AU 17 27945722 27945722 single base substitution G A upstream_gene_variant MELA-AU 17 27946121 27946121 single base substitution G A exon_variant MELA-AU 17 27946121 27946121 single base substitution G A intron_variant MELA-AU 17 27946121 27946121 single base substitution G A synonymous_variant I136I 408C>T MELA-AU 17 27946121 27946121 single base substitution G A synonymous_variant I30I 90C>T MELA-AU 17 27946121 27946121 single base substitution G A upstream_gene_variant MELA-AU 17 27946216 27946216 single base substitution G A intron_variant MELA-AU 17 27946216 27946216 single base substitution G A upstream_gene_variant MELA-AU 17 27946238 27946238 single base substitution G A intron_variant MELA-AU 17 27946238 27946238 single base substitution G A upstream_gene_variant MELA-AU 17 27946368 27946368 single base substitution G A intron_variant MELA-AU 17 27946368 27946368 single base substitution G A upstream_gene_variant MELA-AU 17 27948000 27948001 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 27948000 27948001 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 27948087 27948087 single base substitution C T intron_variant MELA-AU 17 27948087 27948087 single base substitution C T upstream_gene_variant MELA-AU 17 27948757 27948757 single base substitution G A intron_variant MELA-AU 17 27948757 27948757 single base substitution G A upstream_gene_variant MELA-AU 17 27949377 27949377 single base substitution A T intron_variant MELA-AU 17 27949377 27949377 single base substitution A T upstream_gene_variant MELA-AU 17 27949577 27949577 single base substitution A G intron_variant MELA-AU 17 27949577 27949577 single base substitution A G upstream_gene_variant MELA-AU 17 27949831 27949831 single base substitution G A 5_prime_UTR_variant MELA-AU 17 27949831 27949831 single base substitution G A exon_variant MELA-AU 17 27949831 27949831 single base substitution G A upstream_gene_variant MELA-AU 17 27951347 27951347 single base substitution G A upstream_gene_variant MELA-AU 17 27951661 27951661 single base substitution T A upstream_gene_variant MELA-AU 17 27951999 27951999 single base substitution A G upstream_gene_variant MELA-AU 17 27952652 27952652 single base substitution G A upstream_gene_variant MELA-AU 17 27952822 27952822 single base substitution G A upstream_gene_variant MELA-AU 17 27953171 27953172 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 27954306 27954306 single base substitution A T upstream_gene_variant OV-AU 17 27941117 27941117 single base substitution C A downstream_gene_variant OV-AU 17 27944322 27944322 single base substitution G A 3_prime_UTR_variant OV-AU 17 27944322 27944322 single base substitution G A 5_prime_UTR_variant OV-AU 17 27944322 27944322 single base substitution G A downstream_gene_variant OV-AU 17 27944322 27944322 single base substitution G A exon_variant OV-AU 17 27944322 27944322 single base substitution G A intron_variant OV-AU 17 27949661 27949661 single base substitution C T intron_variant OV-AU 17 27949661 27949661 single base substitution C T upstream_gene_variant PACA-AU 17 27938385 27938385 single base substitution A C downstream_gene_variant PACA-AU 17 27939762 27939764 deletion of <=200bp GAC - downstream_gene_variant PACA-AU 17 27940406 27940406 deletion of <=200bp C - downstream_gene_variant PACA-AU 17 27943686 27943686 single base substitution G T downstream_gene_variant PACA-AU 17 27943686 27943686 single base substitution G T intron_variant PACA-AU 17 27946212 27946212 single base substitution G T intron_variant PACA-AU 17 27946212 27946212 single base substitution G T splice_region_variant PACA-AU 17 27946212 27946212 single base substitution G T upstream_gene_variant PACA-AU 17 27954417 27954417 single base substitution C T upstream_gene_variant PACA-CA 17 27938566 27938566 single base substitution G A downstream_gene_variant PACA-CA 17 27939869 27939869 single base substitution C T downstream_gene_variant PACA-CA 17 27946098 27946107 deletion of <=200bp CTGGCAGTAG - exon_variant PACA-CA 17 27946098 27946107 deletion of <=200bp CTGGCAGTAG - frameshift_variant PTAR141 PACA-CA 17 27946098 27946107 deletion of <=200bp CTGGCAGTAG - frameshift_variant PTAR35 PACA-CA 17 27946098 27946107 deletion of <=200bp CTGGCAGTAG - intron_variant PACA-CA 17 27946098 27946107 deletion of <=200bp CTGGCAGTAG - upstream_gene_variant PACA-CA 17 27946855 27946855 single base substitution A G intron_variant PACA-CA 17 27946855 27946855 single base substitution A G upstream_gene_variant PACA-CA 17 27948091 27948091 single base substitution G T intron_variant PACA-CA 17 27948091 27948091 single base substitution G T upstream_gene_variant PACA-CA 17 27952471 27952471 single base substitution G A upstream_gene_variant PACA-CA 17 27954585 27954585 single base substitution C A upstream_gene_variant PBCA-DE 17 27939613 27939613 single base substitution C G downstream_gene_variant PBCA-DE 17 27952225 27952225 single base substitution C G upstream_gene_variant PRAD-CA 17 27943259 27943259 single base substitution C T downstream_gene_variant PRAD-CA 17 27943259 27943259 single base substitution C T intron_variant PRAD-UK 17 27939336 27939336 single base substitution C T downstream_gene_variant READ-US 17 27946079 27946079 single base substitution T A intron_variant READ-US 17 27946079 27946079 single base substitution T A splice_region_variant READ-US 17 27946079 27946079 single base substitution T A upstream_gene_variant RECA-EU 17 27943973 27943973 single base substitution C A 3_prime_UTR_variant RECA-EU 17 27943973 27943973 single base substitution C A downstream_gene_variant RECA-EU 17 27943973 27943973 single base substitution C A exon_variant RECA-EU 17 27943973 27943973 single base substitution C A intron_variant RECA-EU 17 27943973 27943973 single base substitution C A missense_variant V241F 721G>T RECA-EU 17 27943973 27943973 single base substitution C A missense_variant V281F 841G>T RECA-EU 17 27943973 27943973 single base substitution C A missense_variant V47F 139G>T SKCA-BR 17 27938586 27938586 single base substitution A T downstream_gene_variant SKCA-BR 17 27941483 27941483 single base substitution C A downstream_gene_variant SKCA-BR 17 27942716 27942716 single base substitution G C 3_prime_UTR_variant SKCA-BR 17 27942716 27942716 single base substitution G C downstream_gene_variant SKCA-BR 17 27942716 27942716 single base substitution G C exon_variant SKCA-BR 17 27947571 27947571 single base substitution G A intron_variant SKCA-BR 17 27947571 27947571 single base substitution G A upstream_gene_variant SKCA-BR 17 27950103 27950103 single base substitution C T upstream_gene_variant SKCA-BR 17 27950517 27950517 single base substitution G A upstream_gene_variant SKCA-BR 17 27952309 27952309 single base substitution G A upstream_gene_variant SKCA-BR 17 27953928 27953928 single base substitution A T upstream_gene_variant SKCM-US 17 27943157 27943157 single base substitution G A 3_prime_UTR_variant SKCM-US 17 27943157 27943157 single base substitution G A downstream_gene_variant SKCM-US 17 27943157 27943157 single base substitution G A exon_variant SKCM-US 17 27943157 27943157 single base substitution G A missense_variant P133S 397C>T SKCM-US 17 27943157 27943157 single base substitution G A missense_variant P327S 979C>T SKCM-US 17 27943157 27943157 single base substitution G A missense_variant P367S 1099C>T SKCM-US 17 27943746 27943746 single base substitution C T 3_prime_UTR_variant SKCM-US 17 27943746 27943746 single base substitution C T downstream_gene_variant SKCM-US 17 27943746 27943746 single base substitution C T exon_variant SKCM-US 17 27943746 27943746 single base substitution C T synonymous_variant L286L 858G>A SKCM-US 17 27943746 27943746 single base substitution C T synonymous_variant L326L 978G>A SKCM-US 17 27943746 27943746 single base substitution C T synonymous_variant L92L 276G>A SKCM-US 17 27944633 27944633 single base substitution C T downstream_gene_variant SKCM-US 17 27944633 27944633 single base substitution C T exon_variant SKCM-US 17 27944633 27944633 single base substitution C T intron_variant SKCM-US 17 27944633 27944633 single base substitution C T missense_variant R213K 638G>A SKCM-US 17 27944633 27944633 single base substitution C T upstream_gene_variant SKCM-US 17 27946683 27946683 single base substitution C T 5_prime_UTR_variant SKCM-US 17 27946683 27946683 single base substitution C T exon_variant SKCM-US 17 27946683 27946683 single base substitution C T intron_variant SKCM-US 17 27946683 27946683 single base substitution C T missense_variant D103N 307G>A SKCM-US 17 27946683 27946683 single base substitution C T upstream_gene_variant STAD-US 17 27937743 27937743 single base substitution G A downstream_gene_variant STAD-US 17 27938981 27938981 single base substitution C T downstream_gene_variant STAD-US 17 27939281 27939281 single base substitution A G downstream_gene_variant STAD-US 17 27939735 27939735 single base substitution G A downstream_gene_variant STAD-US 17 27939969 27939969 single base substitution G A downstream_gene_variant STAD-US 17 27942982 27942982 single base substitution G C 3_prime_UTR_variant STAD-US 17 27942982 27942982 single base substitution G C downstream_gene_variant STAD-US 17 27942982 27942982 single base substitution G C exon_variant STAD-US 17 27942982 27942982 single base substitution G C missense_variant A191G 572C>G STAD-US 17 27942982 27942982 single base substitution G C missense_variant A385G 1154C>G STAD-US 17 27942982 27942982 single base substitution G C missense_variant A425G 1274C>G STAD-US 17 27943176 27943176 single base substitution G A 3_prime_UTR_variant STAD-US 17 27943176 27943176 single base substitution G A downstream_gene_variant STAD-US 17 27943176 27943176 single base substitution G A exon_variant STAD-US 17 27943176 27943176 single base substitution G A synonymous_variant D126D 378C>T STAD-US 17 27943176 27943176 single base substitution G A synonymous_variant D320D 960C>T STAD-US 17 27943176 27943176 single base substitution G A synonymous_variant D360D 1080C>T STAD-US 17 27943832 27943832 single base substitution C T 3_prime_UTR_variant STAD-US 17 27943832 27943832 single base substitution C T downstream_gene_variant STAD-US 17 27943832 27943832 single base substitution C T exon_variant STAD-US 17 27943832 27943832 single base substitution C T missense_variant D258N 772G>A STAD-US 17 27943832 27943832 single base substitution C T missense_variant D298N 892G>A STAD-US 17 27943832 27943832 single base substitution C T missense_variant D64N 190G>A STAD-US 17 27944531 27944531 single base substitution C A downstream_gene_variant STAD-US 17 27944531 27944531 single base substitution C A exon_variant STAD-US 17 27944531 27944531 single base substitution C A intron_variant STAD-US 17 27944531 27944531 single base substitution C A missense_variant G247V 740G>T STAD-US 17 27944531 27944531 single base substitution C A upstream_gene_variant STAD-US 17 27944627 27944627 single base substitution G A downstream_gene_variant STAD-US 17 27944627 27944627 single base substitution G A exon_variant STAD-US 17 27944627 27944627 single base substitution G A intron_variant STAD-US 17 27944627 27944627 single base substitution G A missense_variant A215V 644C>T STAD-US 17 27944627 27944627 single base substitution G A upstream_gene_variant STAD-US 17 27946167 27946167 single base substitution G A exon_variant STAD-US 17 27946167 27946167 single base substitution G A intron_variant STAD-US 17 27946167 27946167 single base substitution G A missense_variant T121M 362C>T STAD-US 17 27946167 27946167 single base substitution G A missense_variant T15M 44C>T STAD-US 17 27946167 27946167 single base substitution G A upstream_gene_variant STAD-US 17 27946705 27946705 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 17 27946705 27946705 single base substitution G A exon_variant STAD-US 17 27946705 27946705 single base substitution G A intron_variant STAD-US 17 27946705 27946705 single base substitution G A synonymous_variant N95N 285C>T STAD-US 17 27946705 27946705 single base substitution G A upstream_gene_variant STAD-US 17 27948258 27948258 single base substitution A T exon_variant STAD-US 17 27948258 27948258 single base substitution A T intron_variant STAD-US 17 27948258 27948258 single base substitution A T missense_variant V61D 182T>A STAD-US 17 27948258 27948258 single base substitution A T upstream_gene_variant STAD-US 17 27948260 27948260 single base substitution G A exon_variant STAD-US 17 27948260 27948260 single base substitution G A intron_variant STAD-US 17 27948260 27948260 single base substitution G A synonymous_variant I60I 180C>T STAD-US 17 27948260 27948260 single base substitution G A upstream_gene_variant UCEC-US 17 27937736 27937736 single base substitution C T downstream_gene_variant UCEC-US 17 27939150 27939150 single base substitution T C downstream_gene_variant UCEC-US 17 27939261 27939261 single base substitution C T downstream_gene_variant UCEC-US 17 27939427 27939427 single base substitution G A downstream_gene_variant UCEC-US 17 27943172 27943172 single base substitution G A 3_prime_UTR_variant UCEC-US 17 27943172 27943172 single base substitution G A downstream_gene_variant UCEC-US 17 27943172 27943172 single base substitution G A exon_variant UCEC-US 17 27943172 27943172 single base substitution G A synonymous_variant L128L 382C>T UCEC-US 17 27943172 27943172 single base substitution G A synonymous_variant L322L 964C>T UCEC-US 17 27943172 27943172 single base substitution G A synonymous_variant L362L 1084C>T UCEC-US 17 27943753 27943753 single base substitution C A 3_prime_UTR_variant UCEC-US 17 27943753 27943753 single base substitution C A downstream_gene_variant UCEC-US 17 27943753 27943753 single base substitution C A exon_variant UCEC-US 17 27943753 27943753 single base substitution C A missense_variant R284M 851G>T UCEC-US 17 27943753 27943753 single base substitution C A missense_variant R324M 971G>T UCEC-US 17 27943753 27943753 single base substitution C A missense_variant R90M 269G>T UCEC-US 17 27945913 27945913 single base substitution G A exon_variant UCEC-US 17 27945913 27945913 single base substitution G A intron_variant UCEC-US 17 27945913 27945913 single base substitution G A synonymous_variant D176D 528C>T UCEC-US 17 27945913 27945913 single base substitution G A synonymous_variant D70D 210C>T UCEC-US 17 27945913 27945913 single base substitution G A upstream_gene_variant UCEC-US 17 27945918 27945918 single base substitution G T exon_variant UCEC-US 17 27945918 27945918 single base substitution G T intron_variant UCEC-US 17 27945918 27945918 single base substitution G T missense_variant P175T 523C>A UCEC-US 17 27945918 27945918 single base substitution G T missense_variant P69T 205C>A UCEC-US 17 27945918 27945918 single base substitution G T upstream_gene_variant UCEC-US 17 27948430 27948430 single base substitution G A exon_variant UCEC-US 17 27948430 27948430 single base substitution G A intron_variant UCEC-US 17 27948430 27948430 single base substitution G A missense_variant R4C 10C>T UCEC-US 17 27948430 27948430 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LS411 COSM2801986 c.970A>G p.R324G Substitution - Missense 17:29616736-29616736 - TCGA-BR-8676-01 COSM4065204 c.1080C>T p.D360D Substitution - coding silent 17:29616158-29616158 - TCGA-DY-A1DG-01 COSM1563938 c.450A>T p.A150A Substitution - coding silent 17:29619061-29619061 - tumor_4177856 COSM3356903 c.166G>A p.G56R Substitution - Missense 17:29621256-29621256 - TCGA-AN-A0FK-01 COSM436285 c.6C>T p.S2S Substitution - coding silent 17:29621416-29621416 - TCGA-EJ-7125-01 COSM3672398 c.489C>A p.T163T Substitution - coding silent 17:29618934-29618934 - B105-0-Tumor COSM1749934 c.955G>C p.G319R Substitution - Missense 17:29616751-29616751 - B105-0 COSM1749934 c.955G>C p.G319R Substitution - Missense 17:29616751-29616751 - TCGA-AX-A05S-01 COSM977220 c.523C>A p.P175T Substitution - Missense 17:29618900-29618900 - 587302 COSM1202097 c.625G>A p.V209M Substitution - Missense 17:29618798-29618798 - TCGA-BR-8487-01 COSM2802007 c.180C>T p.I60I Substitution - coding silent 17:29621242-29621242 - TCGA-G4-6293-01 COSM1381858 c.942G>A p.P314P Substitution - coding silent 17:29616764-29616764 - TCGA-CD-A48A-01 COSM4065209 c.285C>T p.N95N Substitution - coding silent 17:29619687-29619687 - LP6007420-DNA_A01 COSM4413052 c.72C>G p.A24A Substitution - coding silent 17:29621350-29621350 - Pat_11_A COSM5852163 c.122C>T p.A41V Substitution - Missense 17:29621300-29621300 - C086 COSM5529108 c.1021G>A p.E341K Substitution - Missense 17:29616320-29616320 - 61 COSM5740933 c.464T>C p.V155A Substitution - Missense 17:29618959-29618959 - 2492703 COSM5599332 c.1255C>T p.P419S Substitution - Missense 17:29615983-29615983 - PD4137a COSM160166 c.783G>A p.Q261Q Substitution - coding silent 17:29617013-29617013 - TCGA-F4-6461-01 COSM3691469 c.490G>A p.G164R Substitution - Missense 17:29618933-29618933 - TCGA-B6-A0IK-01 COSM5833258 c.387_388delCC p.H130fs*23 Deletion - Frameshift 17:29619123-29619124 - TCGA-B5-A0K9-01 COSM977221 c.10C>T p.R4C Substitution - Missense 17:29621412-29621412 - TCGA-AP-A0LM-01 COSM977219 c.528C>T p.D176D Substitution - coding silent 17:29618895-29618895 - CLL121 COSM1290662 c.1158C>A p.P386P Substitution - coding silent 17:29616080-29616080 - CHC892T COSM4795630 c.663G>A p.R221R Substitution - coding silent 17:29617590-29617590 - T55 COSM4674236 c.847C>A p.L283M Substitution - Missense 17:29616949-29616949 - 2492700 COSM5599332 c.1255C>T p.P419S Substitution - Missense 17:29615983-29615983 - Pat_41_A COSM5852161 c.875G>A p.R292Q Substitution - Missense 17:29616831-29616831 - TCGA-AD-6964-01 COSM1381860 c.123C>T p.A41A Substitution - coding silent 17:29621299-29621299 - TCGA-FW-A3R5-06 COSM3889469 c.1099C>T p.P367S Substitution - Missense 17:29616139-29616139 - CRC-04T COSM5468439 c.1372A>T p.T458S Substitution - Missense 17:29615779-29615779 - I2L-P19Ta-Tumor-Biopsy COSM5364016 c.409C>T p.L137F Substitution - Missense 17:29619102-29619102 - 9227_T COSM5042439 c.202G>A p.G68R Substitution - Missense 17:29619770-29619770 - TCGA-22-4595-01 COSM705744 c.729G>C p.Q243H Substitution - Missense 17:29617524-29617524 - HT115 COSM2802005 c.205C>T p.R69* Substitution - Nonsense 17:29619767-29619767 - ESCC_4 COSM5622807 c.971_972insA p.L326fs*7 Insertion - Frameshift 17:29616734-29616735 - TCGA-BR-8487-01 COSM4065203 c.1274C>G p.A425G Substitution - Missense 17:29615964-29615964 - SC_9047 COSM5556048 c.236G>T p.G79V Substitution - Missense 17:29619736-29619736 - TCGA-IZ-A6M8-01 COSM3988891 c.126C>T p.V42V Substitution - coding silent 17:29621296-29621296 - TCGA-18-5592-01 COSM705745 c.754-1G>A p.? Unknown 17:29617043-29617043 - 7441 COSM1644507 c.802G>A p.G268R Substitution - Missense 17:29616994-29616994 - 1N31-VS-1T31 COSM4974313 c.135A>G p.K45K Substitution - coding silent 17:29621287-29621287 - TCGA-DK-A1A3-01 COSM417617 c.280G>A p.D94N Substitution - Missense 17:29619692-29619692 - 2292383 COSM4610235 c.995A>G p.E332G Substitution - Missense 17:29616711-29616711 - sysucc-311T COSM5463983 c.519G>A p.M173I Substitution - Missense 17:29618904-29618904 - TCGA-DK-A3X1-01 COSM3795417 c.1041C>T p.I347I Substitution - coding silent 17:29616300-29616300 - TCGA-C8-A26W-01 COSM5221725 c.157delG p.A53fs*103 Deletion - Frameshift 17:29621265-29621265 - Au2 COSM5599332 c.1255C>T p.P419S Substitution - Missense 17:29615983-29615983 - 116 COSM5013125 c.1063-1G>T p.? Unknown 17:29616176-29616176 - C0018T COSM4151568 c.841G>T p.V281F Substitution - Missense 17:29616955-29616955 - CSCC-7-T COSM4544833 c.364G>A p.E122K Substitution - Missense 17:29619147-29619147 - 11M COSM5576559 c.84C>T p.I28I Substitution - coding silent 17:29621338-29621338 - TCGA-BR-6452-01 COSM4065210 c.182T>A p.V61D Substitution - Missense 17:29621240-29621240 - PA285 COSM1163147 c.877T>C p.Y293H Substitution - Missense 17:29616829-29616829 - MO_1162 COSM5573577 c.634-1G>T p.? Unknown 17:29617620-29617620 - TCGA-BT-A0YX-01 COSM417618 c.549G>A p.W183* Substitution - Nonsense 17:29618874-29618874 - TCGA-C5-A3HE-01 COSM3795417 c.1041C>T p.I347I Substitution - coding silent 17:29616300-29616300 - ZZUFHECRKL-G031T COSM5432646 c.634-3_634-2insC p.? Unknown 17:29617621-29617622 - TCGA-CG-4466-01 COSM4065206 c.740G>T p.G247V Substitution - Missense 17:29617513-29617513 - TCGA-GC-A3RC-01 COSM3795418 c.620G>A p.G207D Substitution - Missense 17:29618803-29618803 - TCGA-CA-6717-01 COSM1381859 c.397C>T p.R133C Substitution - Missense 17:29619114-29619114 - CHC892T COSM4795630 c.663G>A p.R221R Substitution - coding silent 17:29617590-29617590 - TCGA-G4-6586-01 COSM1381857 c.946C>T p.R316W Substitution - Missense 17:29616760-29616760 - PR-01-2554 COSM243820 c.605T>C p.I202T Substitution - Missense 17:29618818-29618818 - TCGA-DK-A3IS-01 COSM1302588 c.413C>G p.S138C Substitution - Missense 17:29619098-29619098 - tumor_4189200 COSM3356904 c.21G>A p.R7R Substitution - coding silent 17:29621401-29621401 - CHC1720T COSM4800583 c.307G>C p.D103H Substitution - Missense 17:29619665-29619665 - 2492702 COSM5599332 c.1255C>T p.P419S Substitution - Missense 17:29615983-29615983 - TCGA-AA-3966-01 COSM272526 c.925T>C p.F309L Substitution - Missense 17:29616781-29616781 - TCGA-CG-5717-01 COSM4065207 c.644C>T p.A215V Substitution - Missense 17:29617609-29617609 - Pat_45_B COSM5852162 c.826C>T p.P276S Substitution - Missense 17:29616970-29616970 - ESO-732 COSM1248989 c.306C>T p.D102D Substitution - coding silent 17:29619666-29619666 - LUAD-E00443 COSM363768 c.719G>A p.R240H Substitution - Missense 17:29617534-29617534 - HCC2998 COSM1679683 c.758A>T p.N253I Substitution - Missense 17:29617038-29617038 - TCGA-EB-A41A-01 COSM3515671 c.638G>A p.R213K Substitution - Missense 17:29617615-29617615 - TCGA-D1-A167-01 COSM977217 c.1084C>T p.L362L Substitution - coding silent 17:29616154-29616154 - TCGA-BR-8487-01 COSM4065205 c.892G>A p.D298N Substitution - Missense 17:29616814-29616814 - CSCC-27-T COSM4549616 c.477G>A p.W159* Substitution - Nonsense 17:29618946-29618946 - TCGA-DK-A2I4-01 COSM3795416 c.1093G>A p.D365N Substitution - Missense 17:29616145-29616145 - TCGA-DR-A0ZM-01 COSM460386 c.1025G>C p.R342T Substitution - Missense 17:29616316-29616316 - 8013222 COSM3387772 c.322-5C>A p.? Unknown 17:29619194-29619194 - I2L-P19Ta-Tumor-Organoid COSM5364016 c.409C>T p.L137F Substitution - Missense 17:29619102-29619102 - TCGA-CG-5723-01 COSM4065208 c.362C>T p.T121M Substitution - Missense 17:29619149-29619149 - TCGA-AX-A0J0-01 COSM977218 c.971G>T p.R324M Substitution - Missense 17:29616735-29616735 - TCGA-AA-3672-01 COSM292736 c.170delG p.G57fs*99 Deletion - Frameshift 17:29621252-29621252 - 1N30-VS-1T30 COSM4974068 c.1057C>T p.R353C Substitution - Missense 17:29616284-29616284 - TCGA-A2-A0T5-01 COSM3819193 c.419A>C p.H140P Substitution - Missense 17:29619092-29619092 - 2492701 COSM5599332 c.1255C>T p.P419S Substitution - Missense 17:29615983-29615983 - TCGA-ER-A193-06 COSM3515670 c.978G>A p.L326L Substitution - coding silent 17:29616728-29616728 - HCC2998 COSM1679683 c.758A>T p.N253I Substitution - Missense 17:29617038-29617038 - TCGA-D3-A5GO-06 COSM3515672 c.307G>A p.D103N Substitution - Missense 17:29619665-29619665 - CHC1720T COSM4800583 c.307G>C p.D103H Substitution - Missense 17:29619665-29619665 - PD6365a COSM1637328 c.151G>T p.V51L Substitution - Missense 17:29621271-29621271 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.143046 17q11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.G247V c.740G>T 17 27944531 STAD C G Missense p.A53P c.157G>C 17 27948283 LUAD C G Missense p.D356H c.1066G>C 17 27943190 HNSC C G Missense p.Q243H c.729G>C 17 27944542 LUSC C T Missense p.D365N c.1093G>A 17 27943163 BLCA C T Missense p.D94N c.280G>A 17 27946710 BLCA C T Missense p.G56R c.166G>A 17 27948274 DLBCL C T Nonsense p.W183* c.549G>A 17 27945892 BLCA C T SpliceAcceptorSNV . c.754-1G>A 17 27944061 LUSC C T Synonymous p.L326L c.978G>A 17 27943746 CM C T Synonymous p.Q261Q c.783G>A 17 27944031 BRCA C T Synonymous p.R7R c.21G>A 17 27948419 DLBCL G A Missense p.A215V c.644C>T 17 27944627 STAD G A Missense p.R4C c.10C>T 17 27948430 UCEC G A Synonymous p.D102D c.306C>T 17 27946684 ESCA G A Synonymous p.L357L c.1071C>T 17 27943185 HNSC G A Synonymous p.S2S c.6C>T 17 27948434 BRCA G C Missense p.R240G c.718C>G 17 27944553 CM G C Missense p.S138C c.413C>G 17 27946116 BLCA G T Missense p.P175T c.523C>A 17 27945918 UCEC G T Synonymous p.P276P c.828C>A 17 27943986 LUAD G T Synonymous p.P386P c.1158C>A 17 27943098 CLL T A Missense p.D171V c.512A>T 17 27945929 LUAD