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 25621449 25621449 + Missense_Mutation SNP G G A TCGA-PQ-A6FN-01A-11D-A31L-08 TCGA-PQ-A6FN-10A-01D-A31J-08 g.chr17:25621449G>A c.28G>A c.(28-30)Gag>Aag p.E10K BLCA 17 25633893 25633893 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:25633893C>T c.696C>T c.(694-696)gtC>gtT p.V232V BLCA 17 25636296 25636296 + Missense_Mutation SNP T T A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:25636296T>A c.882T>A c.(880-882)ttT>ttA p.F294L BLCA 17 25637097 25637097 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr17:25637097C>T c.895C>T c.(895-897)Ccc>Tcc p.P299S BRCA 17 25630544 25630544 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr17:25630544G>C c.361G>C c.(361-363)Gaa>Caa p.E121Q BRCA 17 25637136 25637136 + Missense_Mutation SNP C C G TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 g.chr17:25637136C>G c.934C>G c.(934-936)Cgg>Ggg p.R312G BRCA 17 25637155 25637155 + Missense_Mutation SNP C C A TCGA-EW-A1OZ-01A-11D-A142-09 TCGA-EW-A1OZ-10A-01D-A142-09 g.chr17:25637155C>A c.953C>A c.(952-954)tCt>tAt p.S318Y CESC 17 25631899 25631899 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr17:25631899G>C c.572G>C c.(571-573)aGa>aCa p.R191T COAD 17 25630635 25630635 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:25630635G>A c.452G>A c.(451-453)cGt>cAt p.R151H COAD 17 25636295 25636295 + Missense_Mutation SNP T T G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr17:25636295T>G c.881T>G c.(880-882)tTt>tGt p.F294C COADREAD 17 25630635 25630635 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:25630635G>A c.452G>A c.(451-453)cGt>cAt p.R151H COADREAD 17 25636295 25636295 + Missense_Mutation SNP T T G TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr17:25636295T>G c.881T>G c.(880-882)tTt>tGt p.F294C ESCA 17 25637196 25637196 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr17:25637196G>A c.994G>A c.(994-996)Gat>Aat p.D332N GBMLGG 17 25631850 25631850 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 g.chr17:25631850G>A c.523G>A c.(523-525)Gat>Aat p.D175N GBMLGG 17 25639315 25639315 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:25639315C>T c.1186C>T c.(1186-1188)Cga>Tga p.R396* HNSC 17 25621434 25621434 + Missense_Mutation SNP C C T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr17:25621434C>T c.13C>T c.(13-15)Ccc>Tcc p.P5S HNSC 17 25628934 25628934 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr17:25628934G>T c.161G>T c.(160-162)gGa>gTa p.G54V HNSC 17 25631813 25631813 + Silent SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr17:25631813C>A c.486C>A c.(484-486)ctC>ctA p.L162L KIPAN 17 25639388 25639388 + Missense_Mutation SNP G G A TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr17:25639388G>A c.1259G>A c.(1258-1260)cGt>cAt p.R420H KIRP 17 25639388 25639388 + Missense_Mutation SNP G G A TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr17:25639388G>A c.1259G>A c.(1258-1260)cGt>cAt p.R420H LGG 17 25631850 25631850 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 g.chr17:25631850G>A c.523G>A c.(523-525)Gat>Aat p.D175N LGG 17 25639315 25639315 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:25639315C>T c.1186C>T c.(1186-1188)Cga>Tga p.R396* LIHC 17 25630657 25630657 + Nonsense_Mutation SNP T T A TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr17:25630657T>A c.474T>A c.(472-474)taT>taA p.Y158* LUAD 17 25621449 25621449 + Missense_Mutation SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr17:25621449G>A c.28G>A c.(28-30)Gag>Aag p.E10K LUAD 17 25628923 25628923 + Silent SNP T T C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chr17:25628923T>C c.150T>C c.(148-150)gcT>gcC p.A50A LUAD 17 25630509 25630509 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr17:25630509T>C c.326T>C c.(325-327)aTa>aCa p.I109T LUAD 17 25630530 25630530 + Missense_Mutation SNP G G T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr17:25630530G>T c.347G>T c.(346-348)gGg>gTg p.G116V LUAD 17 25630601 25630601 + Nonsense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr17:25630601C>T c.418C>T c.(418-420)Cag>Tag p.Q140* LUAD 17 25630661 25630661 + Splice_Site SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr17:25630661G>T c.478G>T c.(478-480)Gga>Tga p.G160* LUAD 17 25631888 25631888 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr17:25631888G>T c.561G>T c.(559-561)gtG>gtT p.V187V LUSC 17 25637137 25637137 + Missense_Mutation SNP G G C TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr17:25637137G>C c.935G>C c.(934-936)cGg>cCg p.R312P PAAD 17 25628876 25628876 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr17:25628876C>A c.103C>A c.(103-105)Cgt>Agt p.R35S PRAD 17 25639358 25639358 + Missense_Mutation SNP C C T TCGA-G9-7521-01A-11D-2260-08 TCGA-G9-7521-10A-01D-2260-08 g.chr17:25639358C>T c.1229C>T c.(1228-1230)cCt>cTt p.P410L SKCM 17 25628924 25628924 + Missense_Mutation SNP T T G TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr17:25628924T>G c.151T>G c.(151-153)Tgg>Ggg p.W51G SKCM 17 25630396 25630396 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:25630396C>T c.213C>T c.(211-213)ctC>ctT p.L71L SKCM 17 25631814 25631814 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr17:25631814C>T c.487C>T c.(487-489)Ctc>Ttc p.L163F SKCM 17 25639344 25639344 + Missense_Mutation SNP G G T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 g.chr17:25639344G>T c.1215G>T c.(1213-1215)caG>caT p.Q405H

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 25638562 25638562 single base substitution G A downstream_gene_variant BLCA-CN 17 25638562 25638562 single base substitution G A exon_variant BLCA-CN 17 25638562 25638562 single base substitution G A synonymous_variant E196E 588G>A BLCA-CN 17 25638562 25638562 single base substitution G A synonymous_variant E342E 1026G>A BRCA-EU 17 25617712 25617712 single base substitution G A upstream_gene_variant BRCA-EU 17 25619488 25619488 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 25619496 25619496 single base substitution T A upstream_gene_variant BRCA-EU 17 25620912 25620912 single base substitution A G upstream_gene_variant BRCA-EU 17 25621016 25621016 single base substitution C T upstream_gene_variant BRCA-EU 17 25621030 25621030 single base substitution C G upstream_gene_variant BRCA-EU 17 25621180 25621180 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 25621180 25621180 single base substitution C G exon_variant BRCA-EU 17 25621180 25621180 single base substitution C G upstream_gene_variant BRCA-EU 17 25622793 25622793 deletion of <=200bp T - intron_variant BRCA-EU 17 25623939 25623939 single base substitution T G intron_variant BRCA-EU 17 25625454 25625454 deletion of <=200bp A - intron_variant BRCA-EU 17 25625454 25625454 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 25625886 25625912 deletion of <=200bp TTAAAAGGAAAAAAAAAAGTTTGTTTT - intron_variant BRCA-EU 17 25625886 25625912 deletion of <=200bp TTAAAAGGAAAAAAAAAAGTTTGTTTT - upstream_gene_variant BRCA-EU 17 25626473 25626473 single base substitution G C intron_variant BRCA-EU 17 25626473 25626473 single base substitution G C upstream_gene_variant BRCA-EU 17 25627189 25627189 single base substitution T G intron_variant BRCA-EU 17 25627189 25627189 single base substitution T G upstream_gene_variant BRCA-EU 17 25627721 25627721 single base substitution T G intron_variant BRCA-EU 17 25627721 25627721 single base substitution T G upstream_gene_variant BRCA-EU 17 25628119 25628119 single base substitution C G intron_variant BRCA-EU 17 25628119 25628119 single base substitution C G upstream_gene_variant BRCA-EU 17 25628761 25628761 single base substitution C T intron_variant BRCA-EU 17 25628761 25628761 single base substitution C T upstream_gene_variant BRCA-EU 17 25630553 25630553 single base substitution A C downstream_gene_variant BRCA-EU 17 25630553 25630553 single base substitution A C exon_variant BRCA-EU 17 25630553 25630553 single base substitution A C intron_variant BRCA-EU 17 25630553 25630553 single base substitution A C missense_variant S124R 370A>C BRCA-EU 17 25630553 25630553 single base substitution A C missense_variant S131R 391A>C BRCA-EU 17 25630553 25630553 single base substitution A C missense_variant S93R 277A>C BRCA-EU 17 25630580 25630580 single base substitution C T downstream_gene_variant BRCA-EU 17 25630580 25630580 single base substitution C T exon_variant BRCA-EU 17 25630580 25630580 single base substitution C T intron_variant BRCA-EU 17 25630580 25630580 single base substitution C T missense_variant R102C 304C>T BRCA-EU 17 25630580 25630580 single base substitution C T missense_variant R133C 397C>T BRCA-EU 17 25630580 25630580 single base substitution C T missense_variant R140C 418C>T BRCA-EU 17 25631087 25631087 single base substitution G T downstream_gene_variant BRCA-EU 17 25631087 25631087 single base substitution G T intron_variant BRCA-EU 17 25632438 25632438 single base substitution T C downstream_gene_variant BRCA-EU 17 25632438 25632438 single base substitution T C intron_variant BRCA-EU 17 25632648 25632648 single base substitution G C downstream_gene_variant BRCA-EU 17 25632648 25632648 single base substitution G C intron_variant BRCA-EU 17 25632929 25632929 single base substitution G C downstream_gene_variant BRCA-EU 17 25632929 25632929 single base substitution G C intron_variant BRCA-EU 17 25634224 25634224 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 25634224 25634224 single base substitution A G downstream_gene_variant BRCA-EU 17 25634224 25634224 single base substitution A G intron_variant BRCA-EU 17 25634329 25634329 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 25634329 25634329 single base substitution A G downstream_gene_variant BRCA-EU 17 25634329 25634329 single base substitution A G intron_variant BRCA-EU 17 25635605 25635605 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 17 25635605 25635605 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 25635605 25635605 insertion of <=200bp - T exon_variant BRCA-EU 17 25635605 25635605 insertion of <=200bp - T intron_variant BRCA-EU 17 25636950 25636950 single base substitution C A downstream_gene_variant BRCA-EU 17 25636950 25636950 single base substitution C A intron_variant BRCA-EU 17 25637084 25637084 single base substitution C T downstream_gene_variant BRCA-EU 17 25637084 25637084 single base substitution C T intron_variant BRCA-EU 17 25637084 25637084 single base substitution C T splice_region_variant BRCA-EU 17 25637146 25637146 single base substitution G T downstream_gene_variant BRCA-EU 17 25637146 25637146 single base substitution G T exon_variant BRCA-EU 17 25637146 25637146 single base substitution G T missense_variant R169L 506G>T BRCA-EU 17 25637146 25637146 single base substitution G T missense_variant R315L 944G>T BRCA-EU 17 25638247 25638247 single base substitution G C downstream_gene_variant BRCA-EU 17 25638247 25638247 single base substitution G C intron_variant BRCA-EU 17 25638776 25638776 single base substitution G C downstream_gene_variant BRCA-EU 17 25638776 25638776 single base substitution G C intron_variant BRCA-EU 17 25638953 25638953 single base substitution C T downstream_gene_variant BRCA-EU 17 25638953 25638953 single base substitution C T intron_variant BRCA-EU 17 25639228 25639228 single base substitution C A downstream_gene_variant BRCA-EU 17 25639228 25639228 single base substitution C A intron_variant BRCA-EU 17 25640082 25640082 insertion of <=200bp - G 3_prime_UTR_variant BRCA-EU 17 25640082 25640082 insertion of <=200bp - G downstream_gene_variant BRCA-EU 17 25640082 25640082 insertion of <=200bp - G exon_variant BRCA-EU 17 25640852 25640852 single base substitution G C downstream_gene_variant BRCA-EU 17 25640983 25640983 single base substitution G A downstream_gene_variant BRCA-EU 17 25641060 25641060 single base substitution G C downstream_gene_variant BRCA-EU 17 25644141 25644141 single base substitution A C downstream_gene_variant BRCA-EU 17 25644644 25644644 single base substitution C G downstream_gene_variant BRCA-FR 17 25620912 25620912 single base substitution A G upstream_gene_variant BRCA-FR 17 25632698 25632698 single base substitution G T downstream_gene_variant BRCA-FR 17 25632698 25632698 single base substitution G T intron_variant BRCA-FR 17 25632929 25632929 single base substitution G C downstream_gene_variant BRCA-FR 17 25632929 25632929 single base substitution G C intron_variant BRCA-FR 17 25633359 25633359 single base substitution C T downstream_gene_variant BRCA-FR 17 25633359 25633359 single base substitution C T intron_variant BRCA-FR 17 25636950 25636950 single base substitution C A downstream_gene_variant BRCA-FR 17 25636950 25636950 single base substitution C A intron_variant BRCA-FR 17 25637084 25637084 single base substitution C T downstream_gene_variant BRCA-FR 17 25637084 25637084 single base substitution C T intron_variant BRCA-FR 17 25637084 25637084 single base substitution C T splice_region_variant BRCA-FR 17 25638589 25638589 single base substitution G A downstream_gene_variant BRCA-FR 17 25638589 25638589 single base substitution G A exon_variant BRCA-FR 17 25638589 25638589 single base substitution G A synonymous_variant L205L 615G>A BRCA-FR 17 25638589 25638589 single base substitution G A synonymous_variant L351L 1053G>A BRCA-FR 17 25644644 25644644 single base substitution C G downstream_gene_variant BRCA-FR 17 25645622 25645622 single base substitution C T downstream_gene_variant BRCA-UK 17 25621193 25621193 single base substitution G C 5_prime_UTR_variant BRCA-UK 17 25621193 25621193 single base substitution G C exon_variant BRCA-UK 17 25621193 25621193 single base substitution G C upstream_gene_variant BRCA-US 17 25621392 25621392 single base substitution G A 5_prime_UTR_variant BRCA-US 17 25621392 25621392 single base substitution G A exon_variant BRCA-US 17 25630544 25630544 single base substitution G C downstream_gene_variant BRCA-US 17 25630544 25630544 single base substitution G C exon_variant BRCA-US 17 25630544 25630544 single base substitution G C intron_variant BRCA-US 17 25630544 25630544 single base substitution G C missense_variant E121Q 361G>C BRCA-US 17 25630544 25630544 single base substitution G C missense_variant E128Q 382G>C BRCA-US 17 25630544 25630544 single base substitution G C missense_variant E90Q 268G>C BRCA-US 17 25637136 25637136 single base substitution C G downstream_gene_variant BRCA-US 17 25637136 25637136 single base substitution C G exon_variant BRCA-US 17 25637136 25637136 single base substitution C G missense_variant R166G 496C>G BRCA-US 17 25637136 25637136 single base substitution C G missense_variant R312G 934C>G BRCA-US 17 25637155 25637155 single base substitution C A downstream_gene_variant BRCA-US 17 25637155 25637155 single base substitution C A exon_variant BRCA-US 17 25637155 25637155 single base substitution C A missense_variant S172Y 515C>A BRCA-US 17 25637155 25637155 single base substitution C A missense_variant S318Y 953C>A BTCA-JP 17 25628940 25628940 single base substitution G A exon_variant BTCA-JP 17 25628940 25628940 single base substitution G A intron_variant BTCA-JP 17 25628940 25628940 single base substitution G A missense_variant R25H 74G>A BTCA-JP 17 25628940 25628940 single base substitution G A missense_variant R46H 137G>A BTCA-JP 17 25628940 25628940 single base substitution G A missense_variant R56H 167G>A BTCA-JP 17 25628940 25628940 single base substitution G A missense_variant R63H 188G>A BTCA-JP 17 25628940 25628940 single base substitution G A upstream_gene_variant BTCA-JP 17 25628958 25628958 single base substitution C T exon_variant BTCA-JP 17 25628958 25628958 single base substitution C T intron_variant BTCA-JP 17 25628958 25628958 single base substitution C T missense_variant P31L 92C>T BTCA-JP 17 25628958 25628958 single base substitution C T missense_variant P52L 155C>T BTCA-JP 17 25628958 25628958 single base substitution C T missense_variant P62L 185C>T BTCA-JP 17 25628958 25628958 single base substitution C T missense_variant P69L 206C>T BTCA-JP 17 25628958 25628958 single base substitution C T upstream_gene_variant BTCA-JP 17 25631778 25631778 deletion of <=200bp T - downstream_gene_variant BTCA-JP 17 25631778 25631778 deletion of <=200bp T - intron_variant CESC-US 17 25631899 25631899 single base substitution G C 3_prime_UTR_variant CESC-US 17 25631899 25631899 single base substitution G C downstream_gene_variant CESC-US 17 25631899 25631899 single base substitution G C exon_variant CESC-US 17 25631899 25631899 single base substitution G C intron_variant CESC-US 17 25631899 25631899 single base substitution G C missense_variant R160T 479G>C CESC-US 17 25631899 25631899 single base substitution G C missense_variant R191T 572G>C CESC-US 17 25631899 25631899 single base substitution G C missense_variant R198T 593G>C CESC-US 17 25631899 25631899 single base substitution G C missense_variant R45T 134G>C CLLE-ES 17 25644545 25644545 single base substitution G A downstream_gene_variant COAD-US 17 25630440 25630440 single base substitution T C downstream_gene_variant COAD-US 17 25630440 25630440 single base substitution T C exon_variant COAD-US 17 25630440 25630440 single base substitution T C intron_variant COAD-US 17 25630440 25630440 single base substitution T C missense_variant L55S 164T>C COAD-US 17 25630440 25630440 single base substitution T C missense_variant L76S 227T>C COAD-US 17 25630440 25630440 single base substitution T C missense_variant L86S 257T>C COAD-US 17 25630440 25630440 single base substitution T C missense_variant L93S 278T>C COAD-US 17 25630635 25630635 single base substitution G A downstream_gene_variant COAD-US 17 25630635 25630635 single base substitution G A exon_variant COAD-US 17 25630635 25630635 single base substitution G A intron_variant COAD-US 17 25630635 25630635 single base substitution G A missense_variant R120H 359G>A COAD-US 17 25630635 25630635 single base substitution G A missense_variant R151H 452G>A COAD-US 17 25630635 25630635 single base substitution G A missense_variant R158H 473G>A COAD-US 17 25636295 25636295 single base substitution T G downstream_gene_variant COAD-US 17 25636295 25636295 single base substitution T G exon_variant COAD-US 17 25636295 25636295 single base substitution T G missense_variant F148C 443T>G COAD-US 17 25636295 25636295 single base substitution T G missense_variant F294C 881T>G COCA-CN 17 25620876 25620876 single base substitution C A upstream_gene_variant COCA-CN 17 25621451 25621451 single base substitution G T exon_variant COCA-CN 17 25621451 25621451 single base substitution G T missense_variant E10D 30G>T COCA-CN 17 25628766 25628766 single base substitution G A intron_variant COCA-CN 17 25628766 25628766 single base substitution G A upstream_gene_variant COCA-CN 17 25631793 25631793 single base substitution C A downstream_gene_variant COCA-CN 17 25631793 25631793 single base substitution C A intron_variant COCA-CN 17 25634755 25634755 single base substitution C A 3_prime_UTR_variant COCA-CN 17 25634755 25634755 single base substitution C A downstream_gene_variant COCA-CN 17 25634755 25634755 single base substitution C A intron_variant COCA-CN 17 25636239 25636239 single base substitution T C downstream_gene_variant COCA-CN 17 25636239 25636239 single base substitution T C exon_variant COCA-CN 17 25636239 25636239 single base substitution T C synonymous_variant S129S 387T>C COCA-CN 17 25636239 25636239 single base substitution T C synonymous_variant S275S 825T>C ESAD-UK 17 25617498 25617498 single base substitution C T upstream_gene_variant ESAD-UK 17 25618301 25618301 single base substitution T C upstream_gene_variant ESAD-UK 17 25620182 25620182 single base substitution T C upstream_gene_variant ESAD-UK 17 25622249 25622249 deletion of <=200bp G - intron_variant ESAD-UK 17 25624963 25624963 single base substitution G A intron_variant ESAD-UK 17 25624963 25624963 single base substitution G A upstream_gene_variant ESAD-UK 17 25625098 25625098 single base substitution C T intron_variant ESAD-UK 17 25625098 25625098 single base substitution C T upstream_gene_variant ESAD-UK 17 25626085 25626085 single base substitution G A intron_variant ESAD-UK 17 25626085 25626085 single base substitution G A upstream_gene_variant ESAD-UK 17 25627027 25627027 single base substitution G T intron_variant ESAD-UK 17 25627027 25627027 single base substitution G T upstream_gene_variant ESAD-UK 17 25627463 25627463 single base substitution C A intron_variant ESAD-UK 17 25627463 25627463 single base substitution C A upstream_gene_variant ESAD-UK 17 25630047 25630047 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 25630047 25630047 deletion of <=200bp T - exon_variant ESAD-UK 17 25630047 25630047 deletion of <=200bp T - intron_variant ESAD-UK 17 25630047 25630047 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 25631778 25631778 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 25631778 25631778 deletion of <=200bp T - intron_variant ESAD-UK 17 25632448 25632448 single base substitution A G downstream_gene_variant ESAD-UK 17 25632448 25632448 single base substitution A G intron_variant ESAD-UK 17 25633013 25633013 single base substitution G T downstream_gene_variant ESAD-UK 17 25633013 25633013 single base substitution G T intron_variant ESAD-UK 17 25634309 25634309 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 17 25634309 25634309 insertion of <=200bp - A downstream_gene_variant ESAD-UK 17 25634309 25634309 insertion of <=200bp - A intron_variant ESAD-UK 17 25634871 25634871 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 25634871 25634871 single base substitution C T downstream_gene_variant ESAD-UK 17 25634871 25634871 single base substitution C T exon_variant ESAD-UK 17 25634871 25634871 single base substitution C T intron_variant ESAD-UK 17 25634917 25634917 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 25634917 25634917 single base substitution C T downstream_gene_variant ESAD-UK 17 25634917 25634917 single base substitution C T exon_variant ESAD-UK 17 25634917 25634917 single base substitution C T intron_variant ESAD-UK 17 25638046 25638046 single base substitution A T downstream_gene_variant ESAD-UK 17 25638046 25638046 single base substitution A T intron_variant ESAD-UK 17 25638051 25638051 single base substitution A T downstream_gene_variant ESAD-UK 17 25638051 25638051 single base substitution A T intron_variant ESAD-UK 17 25642151 25642153 deletion of <=200bp TAA - downstream_gene_variant ESAD-UK 17 25643631 25643631 single base substitution A G downstream_gene_variant ESAD-UK 17 25644557 25644557 single base substitution A T downstream_gene_variant ESAD-UK 17 25645209 25645209 insertion of <=200bp - A downstream_gene_variant ESAD-UK 17 25645457 25645457 single base substitution G A downstream_gene_variant ESCA-CN 17 25638580 25638580 single base substitution T C downstream_gene_variant ESCA-CN 17 25638580 25638580 single base substitution T C exon_variant ESCA-CN 17 25638580 25638580 single base substitution T C synonymous_variant V202V 606T>C ESCA-CN 17 25638580 25638580 single base substitution T C synonymous_variant V348V 1044T>C ESCA-CN 17 25638651 25638651 single base substitution A T downstream_gene_variant ESCA-CN 17 25638651 25638651 single base substitution A T intron_variant LAML-KR 17 25621602 25621602 single base substitution A C intron_variant LAML-KR 17 25636449 25636449 single base substitution C T downstream_gene_variant LAML-KR 17 25636449 25636449 single base substitution C T intron_variant LICA-FR 17 25623346 25623346 single base substitution A G intron_variant LICA-FR 17 25630439 25630439 single base substitution T A downstream_gene_variant LICA-FR 17 25630439 25630439 single base substitution T A exon_variant LICA-FR 17 25630439 25630439 single base substitution T A intron_variant LICA-FR 17 25630439 25630439 single base substitution T A missense_variant L55M 163T>A LICA-FR 17 25630439 25630439 single base substitution T A missense_variant L76M 226T>A LICA-FR 17 25630439 25630439 single base substitution T A missense_variant L86M 256T>A LICA-FR 17 25630439 25630439 single base substitution T A missense_variant L93M 277T>A LICA-FR 17 25638051 25638051 single base substitution A T downstream_gene_variant LICA-FR 17 25638051 25638051 single base substitution A T intron_variant LICA-FR 17 25638580 25638580 single base substitution T G downstream_gene_variant LICA-FR 17 25638580 25638580 single base substitution T G exon_variant LICA-FR 17 25638580 25638580 single base substitution T G synonymous_variant V202V 606T>G LICA-FR 17 25638580 25638580 single base substitution T G synonymous_variant V348V 1044T>G LICA-FR 17 25640465 25640465 deletion of <=200bp A - 3_prime_UTR_variant LICA-FR 17 25640465 25640465 deletion of <=200bp A - downstream_gene_variant LICA-FR 17 25640465 25640465 deletion of <=200bp A - exon_variant LIHC-US 17 25630657 25630657 single base substitution T A downstream_gene_variant LIHC-US 17 25630657 25630657 single base substitution T A exon_variant LIHC-US 17 25630657 25630657 single base substitution T A intron_variant LIHC-US 17 25630657 25630657 single base substitution T A stop_gained Y127* 381T>A LIHC-US 17 25630657 25630657 single base substitution T A stop_gained Y158* 474T>A LIHC-US 17 25630657 25630657 single base substitution T A stop_gained Y165* 495T>A LINC-JP 17 25621288 25621288 single base substitution G A 5_prime_UTR_variant LINC-JP 17 25621288 25621288 single base substitution G A exon_variant LINC-JP 17 25621288 25621288 single base substitution G A upstream_gene_variant LINC-JP 17 25633819 25633819 single base substitution A G 3_prime_UTR_variant LINC-JP 17 25633819 25633819 single base substitution A G downstream_gene_variant LINC-JP 17 25633819 25633819 single base substitution A G exon_variant LINC-JP 17 25633819 25633819 single base substitution A G missense_variant K177E 529A>G LINC-JP 17 25633819 25633819 single base substitution A G missense_variant K18E 52A>G LINC-JP 17 25633819 25633819 single base substitution A G missense_variant K208E 622A>G LINC-JP 17 25633819 25633819 single base substitution A G missense_variant K62E 184A>G LINC-JP 17 25635487 25635487 single base substitution G T 3_prime_UTR_variant LINC-JP 17 25635487 25635487 single base substitution G T downstream_gene_variant LINC-JP 17 25635487 25635487 single base substitution G T exon_variant LINC-JP 17 25635487 25635487 single base substitution G T intron_variant LINC-JP 17 25639608 25639608 single base substitution G C 3_prime_UTR_variant LINC-JP 17 25639608 25639608 single base substitution G C downstream_gene_variant LINC-JP 17 25639608 25639608 single base substitution G C exon_variant LIRI-JP 17 25618138 25618138 single base substitution A G upstream_gene_variant LIRI-JP 17 25619043 25619043 single base substitution A C upstream_gene_variant LIRI-JP 17 25620329 25620329 single base substitution A G upstream_gene_variant LIRI-JP 17 25622572 25622573 deletion of <=200bp AC - intron_variant LIRI-JP 17 25623417 25623417 single base substitution A G intron_variant LIRI-JP 17 25623507 25623507 single base substitution A G intron_variant LIRI-JP 17 25624019 25624019 single base substitution A G intron_variant LIRI-JP 17 25630700 25630700 single base substitution A G downstream_gene_variant LIRI-JP 17 25630700 25630700 single base substitution A G exon_variant LIRI-JP 17 25630700 25630700 single base substitution A G intron_variant LIRI-JP 17 25632465 25632465 single base substitution C T downstream_gene_variant LIRI-JP 17 25632465 25632465 single base substitution C T intron_variant LIRI-JP 17 25634100 25634100 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 25634100 25634100 single base substitution G A downstream_gene_variant LIRI-JP 17 25634100 25634100 single base substitution G A intron_variant LIRI-JP 17 25635902 25635902 single base substitution A G downstream_gene_variant LIRI-JP 17 25635902 25635902 single base substitution A G exon_variant LIRI-JP 17 25635902 25635902 single base substitution A G intron_variant LIRI-JP 17 25636992 25636992 single base substitution T G downstream_gene_variant LIRI-JP 17 25636992 25636992 single base substitution T G intron_variant LIRI-JP 17 25639388 25639388 single base substitution G A downstream_gene_variant LIRI-JP 17 25639388 25639388 single base substitution G A exon_variant LIRI-JP 17 25639388 25639388 single base substitution G A missense_variant R274H 821G>A LIRI-JP 17 25639388 25639388 single base substitution G A missense_variant R420H 1259G>A LIRI-JP 17 25641169 25641169 single base substitution A C downstream_gene_variant LIRI-JP 17 25642601 25642601 single base substitution C T downstream_gene_variant LUSC-KR 17 25618077 25618077 single base substitution C A upstream_gene_variant LUSC-KR 17 25619552 25619552 single base substitution G C upstream_gene_variant LUSC-KR 17 25619840 25619840 single base substitution C T upstream_gene_variant LUSC-KR 17 25624475 25624475 single base substitution G C intron_variant LUSC-KR 17 25624475 25624475 single base substitution G C upstream_gene_variant LUSC-KR 17 25624578 25624578 single base substitution C G intron_variant LUSC-KR 17 25624578 25624578 single base substitution C G upstream_gene_variant LUSC-KR 17 25624764 25624764 single base substitution G A intron_variant LUSC-KR 17 25624764 25624764 single base substitution G A upstream_gene_variant LUSC-KR 17 25634873 25634873 single base substitution G T 3_prime_UTR_variant LUSC-KR 17 25634873 25634873 single base substitution G T downstream_gene_variant LUSC-KR 17 25634873 25634873 single base substitution G T exon_variant LUSC-KR 17 25634873 25634873 single base substitution G T intron_variant LUSC-US 17 25637137 25637137 single base substitution G C downstream_gene_variant LUSC-US 17 25637137 25637137 single base substitution G C exon_variant LUSC-US 17 25637137 25637137 single base substitution G C missense_variant R166P 497G>C LUSC-US 17 25637137 25637137 single base substitution G C missense_variant R312P 935G>C MALY-DE 17 25624041 25624041 single base substitution A G intron_variant MALY-DE 17 25628693 25628693 deletion of <=200bp A - intron_variant MALY-DE 17 25628693 25628693 deletion of <=200bp A - upstream_gene_variant MALY-DE 17 25628981 25628981 single base substitution T G downstream_gene_variant MALY-DE 17 25628981 25628981 single base substitution T G exon_variant MALY-DE 17 25628981 25628981 single base substitution T G intron_variant MALY-DE 17 25628981 25628981 single base substitution T G missense_variant F39V 115T>G MALY-DE 17 25628981 25628981 single base substitution T G missense_variant F60V 178T>G MALY-DE 17 25628981 25628981 single base substitution T G missense_variant F70V 208T>G MALY-DE 17 25628981 25628981 single base substitution T G missense_variant F77V 229T>G MALY-DE 17 25628981 25628981 single base substitution T G splice_region_variant MALY-DE 17 25628981 25628981 single base substitution T G upstream_gene_variant MALY-DE 17 25635504 25635504 single base substitution T C 3_prime_UTR_variant MALY-DE 17 25635504 25635504 single base substitution T C downstream_gene_variant MALY-DE 17 25635504 25635504 single base substitution T C exon_variant MALY-DE 17 25635504 25635504 single base substitution T C intron_variant MALY-DE 17 25636705 25636705 single base substitution T C downstream_gene_variant MALY-DE 17 25636705 25636705 single base substitution T C intron_variant MALY-DE 17 25639904 25639904 deletion of <=200bp A - 3_prime_UTR_variant MALY-DE 17 25639904 25639904 deletion of <=200bp A - downstream_gene_variant MALY-DE 17 25639904 25639904 deletion of <=200bp A - exon_variant MELA-AU 17 25617094 25617094 single base substitution G A upstream_gene_variant MELA-AU 17 25617317 25617317 single base substitution G A upstream_gene_variant MELA-AU 17 25617344 25617344 single base substitution G A upstream_gene_variant MELA-AU 17 25618237 25618237 single base substitution G C upstream_gene_variant MELA-AU 17 25618891 25618891 single base substitution G A upstream_gene_variant MELA-AU 17 25619084 25619084 single base substitution G T upstream_gene_variant MELA-AU 17 25619275 25619275 single base substitution A G upstream_gene_variant MELA-AU 17 25619718 25619718 single base substitution C T upstream_gene_variant MELA-AU 17 25620290 25620290 single base substitution C T upstream_gene_variant MELA-AU 17 25620869 25620869 single base substitution T C upstream_gene_variant MELA-AU 17 25622247 25622247 single base substitution T G intron_variant MELA-AU 17 25623183 25623183 single base substitution G A intron_variant MELA-AU 17 25623976 25623976 single base substitution C T intron_variant MELA-AU 17 25623988 25623988 single base substitution T C intron_variant MELA-AU 17 25624135 25624135 single base substitution C T intron_variant MELA-AU 17 25624962 25624962 single base substitution C T intron_variant MELA-AU 17 25624962 25624962 single base substitution C T upstream_gene_variant MELA-AU 17 25625277 25625277 single base substitution C T intron_variant MELA-AU 17 25625277 25625277 single base substitution C T upstream_gene_variant MELA-AU 17 25625536 25625536 single base substitution C T intron_variant MELA-AU 17 25625536 25625536 single base substitution C T upstream_gene_variant MELA-AU 17 25625639 25625639 single base substitution G A intron_variant MELA-AU 17 25625639 25625639 single base substitution G A upstream_gene_variant MELA-AU 17 25628099 25628099 single base substitution C T intron_variant MELA-AU 17 25628099 25628099 single base substitution C T upstream_gene_variant MELA-AU 17 25628188 25628188 single base substitution C T intron_variant MELA-AU 17 25628188 25628188 single base substitution C T upstream_gene_variant MELA-AU 17 25628817 25628817 single base substitution G T exon_variant MELA-AU 17 25628817 25628817 single base substitution G T intron_variant MELA-AU 17 25628817 25628817 single base substitution G T missense_variant R15I 44G>T MELA-AU 17 25628817 25628817 single base substitution G T missense_variant R22I 65G>T MELA-AU 17 25628817 25628817 single base substitution G T splice_acceptor_variant MELA-AU 17 25628817 25628817 single base substitution G T upstream_gene_variant MELA-AU 17 25629405 25629405 single base substitution C T downstream_gene_variant MELA-AU 17 25629405 25629405 single base substitution C T intron_variant MELA-AU 17 25629405 25629405 single base substitution C T upstream_gene_variant MELA-AU 17 25629875 25629875 single base substitution C T downstream_gene_variant MELA-AU 17 25629875 25629875 single base substitution C T exon_variant MELA-AU 17 25629875 25629875 single base substitution C T intron_variant MELA-AU 17 25629875 25629875 single base substitution C T upstream_gene_variant MELA-AU 17 25630119 25630119 single base substitution C T downstream_gene_variant MELA-AU 17 25630119 25630119 single base substitution C T exon_variant MELA-AU 17 25630119 25630119 single base substitution C T intron_variant MELA-AU 17 25630119 25630119 single base substitution C T upstream_gene_variant MELA-AU 17 25630257 25630257 single base substitution C T downstream_gene_variant MELA-AU 17 25630257 25630257 single base substitution C T exon_variant MELA-AU 17 25630257 25630257 single base substitution C T intron_variant MELA-AU 17 25630257 25630257 single base substitution C T upstream_gene_variant MELA-AU 17 25631068 25631068 single base substitution A G downstream_gene_variant MELA-AU 17 25631068 25631068 single base substitution A G intron_variant MELA-AU 17 25631814 25631814 single base substitution C T downstream_gene_variant MELA-AU 17 25631814 25631814 single base substitution C T exon_variant MELA-AU 17 25631814 25631814 single base substitution C T intron_variant MELA-AU 17 25631814 25631814 single base substitution C T missense_variant L132F 394C>T MELA-AU 17 25631814 25631814 single base substitution C T missense_variant L163F 487C>T MELA-AU 17 25631814 25631814 single base substitution C T missense_variant L170F 508C>T MELA-AU 17 25631814 25631814 single base substitution C T missense_variant L17F 49C>T MELA-AU 17 25633061 25633061 single base substitution T C downstream_gene_variant MELA-AU 17 25633061 25633061 single base substitution T C intron_variant MELA-AU 17 25633269 25633269 single base substitution C T downstream_gene_variant MELA-AU 17 25633269 25633269 single base substitution C T intron_variant MELA-AU 17 25633788 25633788 single base substitution G T downstream_gene_variant MELA-AU 17 25633788 25633788 single base substitution G T intron_variant MELA-AU 17 25634664 25634664 single base substitution T C 3_prime_UTR_variant MELA-AU 17 25634664 25634664 single base substitution T C downstream_gene_variant MELA-AU 17 25634664 25634664 single base substitution T C intron_variant MELA-AU 17 25634933 25634933 single base substitution T G 3_prime_UTR_variant MELA-AU 17 25634933 25634933 single base substitution T G downstream_gene_variant MELA-AU 17 25634933 25634933 single base substitution T G exon_variant MELA-AU 17 25634933 25634933 single base substitution T G intron_variant MELA-AU 17 25635297 25635298 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 17 25635297 25635298 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 25635297 25635298 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 25635297 25635298 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 25636416 25636416 single base substitution T C downstream_gene_variant MELA-AU 17 25636416 25636416 single base substitution T C intron_variant MELA-AU 17 25637287 25637287 single base substitution A C downstream_gene_variant MELA-AU 17 25637287 25637287 single base substitution A C intron_variant MELA-AU 17 25637978 25637978 single base substitution C T downstream_gene_variant MELA-AU 17 25637978 25637978 single base substitution C T intron_variant MELA-AU 17 25637996 25637996 single base substitution C T downstream_gene_variant MELA-AU 17 25637996 25637996 single base substitution C T intron_variant MELA-AU 17 25638258 25638258 single base substitution G A downstream_gene_variant MELA-AU 17 25638258 25638258 single base substitution G A intron_variant MELA-AU 17 25638783 25638783 single base substitution G A downstream_gene_variant MELA-AU 17 25638783 25638783 single base substitution G A intron_variant MELA-AU 17 25638931 25638931 single base substitution C T downstream_gene_variant MELA-AU 17 25638931 25638931 single base substitution C T intron_variant MELA-AU 17 25639493 25639493 single base substitution A G 3_prime_UTR_variant MELA-AU 17 25639493 25639493 single base substitution A G downstream_gene_variant MELA-AU 17 25639493 25639493 single base substitution A G exon_variant MELA-AU 17 25640183 25640183 single base substitution C T 3_prime_UTR_variant MELA-AU 17 25640183 25640183 single base substitution C T downstream_gene_variant MELA-AU 17 25640183 25640183 single base substitution C T exon_variant MELA-AU 17 25644175 25644175 single base substitution C T downstream_gene_variant MELA-AU 17 25644279 25644279 single base substitution C T downstream_gene_variant MELA-AU 17 25644682 25644718 deletion of <=200bp ATTACAGGCCGTGCCACCACACCTGGGTTATTTATTT - downstream_gene_variant MELA-AU 17 25644683 25644683 single base substitution T C downstream_gene_variant MELA-AU 17 25644692 25644692 single base substitution G A downstream_gene_variant ORCA-IN 17 25617809 25617809 single base substitution C A upstream_gene_variant ORCA-IN 17 25619817 25619817 single base substitution C A upstream_gene_variant ORCA-IN 17 25619962 25619962 single base substitution C T upstream_gene_variant ORCA-IN 17 25622930 25622930 single base substitution C T intron_variant ORCA-IN 17 25624934 25624934 single base substitution G C intron_variant ORCA-IN 17 25624934 25624934 single base substitution G C upstream_gene_variant ORCA-IN 17 25627765 25627765 single base substitution G T intron_variant ORCA-IN 17 25627765 25627765 single base substitution G T upstream_gene_variant ORCA-IN 17 25629526 25629526 single base substitution A G downstream_gene_variant ORCA-IN 17 25629526 25629526 single base substitution A G exon_variant ORCA-IN 17 25629526 25629526 single base substitution A G intron_variant ORCA-IN 17 25629526 25629526 single base substitution A G upstream_gene_variant ORCA-IN 17 25635495 25635495 single base substitution G T 3_prime_UTR_variant ORCA-IN 17 25635495 25635495 single base substitution G T downstream_gene_variant ORCA-IN 17 25635495 25635495 single base substitution G T exon_variant ORCA-IN 17 25635495 25635495 single base substitution G T intron_variant ORCA-IN 17 25639253 25639253 single base substitution T C downstream_gene_variant ORCA-IN 17 25639253 25639253 single base substitution T C exon_variant ORCA-IN 17 25639253 25639253 single base substitution T C missense_variant V229A 686T>C ORCA-IN 17 25639253 25639253 single base substitution T C missense_variant V375A 1124T>C ORCA-IN 17 25639856 25639856 single base substitution G C 3_prime_UTR_variant ORCA-IN 17 25639856 25639856 single base substitution G C downstream_gene_variant ORCA-IN 17 25639856 25639856 single base substitution G C exon_variant OV-AU 17 25617712 25617712 single base substitution G T upstream_gene_variant OV-AU 17 25618404 25618404 single base substitution C A upstream_gene_variant OV-AU 17 25618774 25618774 single base substitution C T upstream_gene_variant OV-AU 17 25634243 25634243 single base substitution T C 3_prime_UTR_variant OV-AU 17 25634243 25634243 single base substitution T C downstream_gene_variant OV-AU 17 25634243 25634243 single base substitution T C intron_variant OV-AU 17 25634245 25634245 single base substitution T A 3_prime_UTR_variant OV-AU 17 25634245 25634245 single base substitution T A downstream_gene_variant OV-AU 17 25634245 25634245 single base substitution T A intron_variant OV-AU 17 25643006 25643006 single base substitution A T downstream_gene_variant OV-AU 17 25643380 25643380 single base substitution C A downstream_gene_variant PACA-AU 17 25619908 25619908 single base substitution C T upstream_gene_variant PACA-AU 17 25626709 25626709 single base substitution T G intron_variant PACA-AU 17 25626709 25626709 single base substitution T G upstream_gene_variant PACA-AU 17 25628565 25628565 single base substitution G T intron_variant PACA-AU 17 25628565 25628565 single base substitution G T upstream_gene_variant PACA-AU 17 25628566 25628566 single base substitution G T intron_variant PACA-AU 17 25628566 25628566 single base substitution G T upstream_gene_variant PACA-AU 17 25633154 25633154 single base substitution A G downstream_gene_variant PACA-AU 17 25633154 25633154 single base substitution A G intron_variant PACA-AU 17 25635737 25635737 single base substitution T A 3_prime_UTR_variant PACA-AU 17 25635737 25635737 single base substitution T A downstream_gene_variant PACA-AU 17 25635737 25635737 single base substitution T A exon_variant PACA-AU 17 25635737 25635737 single base substitution T A intron_variant PACA-AU 17 25636817 25636817 single base substitution C G downstream_gene_variant PACA-AU 17 25636817 25636817 single base substitution C G intron_variant PACA-AU 17 25641085 25641085 single base substitution G T downstream_gene_variant PACA-AU 17 25641597 25641597 single base substitution A G downstream_gene_variant PACA-CA 17 25619531 25619531 single base substitution C T upstream_gene_variant PACA-CA 17 25621030 25621030 single base substitution C G upstream_gene_variant PACA-CA 17 25621604 25621604 single base substitution C T intron_variant PACA-CA 17 25621974 25621974 single base substitution C T intron_variant PACA-CA 17 25624202 25624202 single base substitution G T intron_variant PACA-CA 17 25625590 25625590 insertion of <=200bp - T intron_variant PACA-CA 17 25625590 25625590 insertion of <=200bp - T upstream_gene_variant PACA-CA 17 25629753 25629758 deletion of <=200bp TTGTTG - downstream_gene_variant PACA-CA 17 25629753 25629758 deletion of <=200bp TTGTTG - exon_variant PACA-CA 17 25629753 25629758 deletion of <=200bp TTGTTG - intron_variant PACA-CA 17 25629753 25629758 deletion of <=200bp TTGTTG - upstream_gene_variant PACA-CA 17 25632687 25632687 single base substitution C G downstream_gene_variant PACA-CA 17 25632687 25632687 single base substitution C G intron_variant PACA-CA 17 25635975 25635975 single base substitution C T downstream_gene_variant PACA-CA 17 25635975 25635975 single base substitution C T exon_variant PACA-CA 17 25635975 25635975 single base substitution C T intron_variant PACA-CA 17 25644492 25644492 single base substitution A C downstream_gene_variant PAEN-IT 17 25639550 25639550 single base substitution A G 3_prime_UTR_variant PAEN-IT 17 25639550 25639550 single base substitution A G downstream_gene_variant PAEN-IT 17 25639550 25639550 single base substitution A G exon_variant PAEN-IT 17 25645635 25645635 single base substitution C T downstream_gene_variant PBCA-DE 17 25616969 25616969 single base substitution A G upstream_gene_variant PBCA-DE 17 25622017 25622017 single base substitution A G intron_variant PBCA-DE 17 25629753 25629753 insertion of <=200bp - TTG downstream_gene_variant PBCA-DE 17 25629753 25629753 insertion of <=200bp - TTG exon_variant PBCA-DE 17 25629753 25629753 insertion of <=200bp - TTG intron_variant PBCA-DE 17 25629753 25629753 insertion of <=200bp - TTG upstream_gene_variant PBCA-DE 17 25630865 25630865 single base substitution A G downstream_gene_variant PBCA-DE 17 25630865 25630865 single base substitution A G intron_variant PBCA-DE 17 25631398 25631398 single base substitution T A downstream_gene_variant PBCA-DE 17 25631398 25631398 single base substitution T A intron_variant PBCA-DE 17 25632184 25632184 single base substitution G A downstream_gene_variant PBCA-DE 17 25632184 25632184 single base substitution G A intron_variant PBCA-DE 17 25634807 25634807 single base substitution G A 3_prime_UTR_variant PBCA-DE 17 25634807 25634807 single base substitution G A downstream_gene_variant PBCA-DE 17 25634807 25634807 single base substitution G A exon_variant PBCA-DE 17 25634807 25634807 single base substitution G A intron_variant PBCA-DE 17 25645639 25645639 single base substitution C T downstream_gene_variant PRAD-CA 17 25617003 25617003 single base substitution A T upstream_gene_variant PRAD-CA 17 25637526 25637526 single base substitution G C downstream_gene_variant PRAD-CA 17 25637526 25637526 single base substitution G C intron_variant PRAD-UK 17 25632858 25632858 single base substitution T C downstream_gene_variant PRAD-UK 17 25632858 25632858 single base substitution T C intron_variant PRAD-UK 17 25642277 25642277 single base substitution T C downstream_gene_variant PRAD-US 17 25639358 25639358 single base substitution C T downstream_gene_variant PRAD-US 17 25639358 25639358 single base substitution C T exon_variant PRAD-US 17 25639358 25639358 single base substitution C T missense_variant P264L 791C>T PRAD-US 17 25639358 25639358 single base substitution C T missense_variant P410L 1229C>T RECA-EU 17 25638358 25638358 single base substitution A C downstream_gene_variant RECA-EU 17 25638358 25638358 single base substitution A C intron_variant SKCA-BR 17 25617776 25617776 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 17 25619369 25619369 single base substitution G A upstream_gene_variant SKCA-BR 17 25619624 25619624 single base substitution C T upstream_gene_variant SKCA-BR 17 25619818 25619818 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 17 25625657 25625657 single base substitution T G intron_variant SKCA-BR 17 25625657 25625657 single base substitution T G upstream_gene_variant SKCA-BR 17 25629436 25629436 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 17 25629436 25629436 insertion of <=200bp - CA intron_variant SKCA-BR 17 25629436 25629436 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 17 25632001 25632001 single base substitution G A downstream_gene_variant SKCA-BR 17 25632001 25632001 single base substitution G A intron_variant SKCA-BR 17 25633893 25633893 single base substitution C A downstream_gene_variant SKCA-BR 17 25633893 25633893 single base substitution C A exon_variant SKCA-BR 17 25633893 25633893 single base substitution C A synonymous_variant V201V 603C>A SKCA-BR 17 25633893 25633893 single base substitution C A synonymous_variant V232V 696C>A SKCA-BR 17 25633893 25633893 single base substitution C A synonymous_variant V42V 126C>A SKCA-BR 17 25633893 25633893 single base substitution C A synonymous_variant V86V 258C>A SKCA-BR 17 25645009 25645009 insertion of <=200bp - AT downstream_gene_variant SKCM-US 17 25628924 25628924 single base substitution T G exon_variant SKCM-US 17 25628924 25628924 single base substitution T G intron_variant SKCM-US 17 25628924 25628924 single base substitution T G missense_variant W20G 58T>G SKCM-US 17 25628924 25628924 single base substitution T G missense_variant W41G 121T>G SKCM-US 17 25628924 25628924 single base substitution T G missense_variant W51G 151T>G SKCM-US 17 25628924 25628924 single base substitution T G missense_variant W58G 172T>G SKCM-US 17 25628924 25628924 single base substitution T G upstream_gene_variant SKCM-US 17 25630396 25630396 single base substitution C T downstream_gene_variant SKCM-US 17 25630396 25630396 single base substitution C T exon_variant SKCM-US 17 25630396 25630396 single base substitution C T intron_variant SKCM-US 17 25630396 25630396 single base substitution C T synonymous_variant L40L 120C>T SKCM-US 17 25630396 25630396 single base substitution C T synonymous_variant L61L 183C>T SKCM-US 17 25630396 25630396 single base substitution C T synonymous_variant L71L 213C>T SKCM-US 17 25630396 25630396 single base substitution C T synonymous_variant L78L 234C>T SKCM-US 17 25631814 25631814 single base substitution C T downstream_gene_variant SKCM-US 17 25631814 25631814 single base substitution C T exon_variant SKCM-US 17 25631814 25631814 single base substitution C T intron_variant SKCM-US 17 25631814 25631814 single base substitution C T missense_variant L132F 394C>T SKCM-US 17 25631814 25631814 single base substitution C T missense_variant L163F 487C>T SKCM-US 17 25631814 25631814 single base substitution C T missense_variant L170F 508C>T SKCM-US 17 25631814 25631814 single base substitution C T missense_variant L17F 49C>T SKCM-US 17 25638541 25638541 single base substitution G T downstream_gene_variant SKCM-US 17 25638541 25638541 single base substitution G T exon_variant SKCM-US 17 25638541 25638541 single base substitution G T synonymous_variant V189V 567G>T SKCM-US 17 25638541 25638541 single base substitution G T synonymous_variant V335V 1005G>T SKCM-US 17 25639344 25639344 single base substitution G T downstream_gene_variant SKCM-US 17 25639344 25639344 single base substitution G T exon_variant SKCM-US 17 25639344 25639344 single base substitution G T missense_variant Q259H 777G>T SKCM-US 17 25639344 25639344 single base substitution G T missense_variant Q405H 1215G>T SKCM-US 17 25639378 25639378 single base substitution C T downstream_gene_variant SKCM-US 17 25639378 25639378 single base substitution C T exon_variant SKCM-US 17 25639378 25639378 single base substitution C T missense_variant L271F 811C>T SKCM-US 17 25639378 25639378 single base substitution C T missense_variant L417F 1249C>T STAD-US 17 25628925 25628925 single base substitution G C exon_variant STAD-US 17 25628925 25628925 single base substitution G C intron_variant STAD-US 17 25628925 25628925 single base substitution G C missense_variant W20S 59G>C STAD-US 17 25628925 25628925 single base substitution G C missense_variant W41S 122G>C STAD-US 17 25628925 25628925 single base substitution G C missense_variant W51S 152G>C STAD-US 17 25628925 25628925 single base substitution G C missense_variant W58S 173G>C STAD-US 17 25628925 25628925 single base substitution G C upstream_gene_variant STAD-US 17 25630429 25630429 single base substitution C T downstream_gene_variant STAD-US 17 25630429 25630429 single base substitution C T exon_variant STAD-US 17 25630429 25630429 single base substitution C T intron_variant STAD-US 17 25630429 25630429 single base substitution C T synonymous_variant S51S 153C>T STAD-US 17 25630429 25630429 single base substitution C T synonymous_variant S72S 216C>T STAD-US 17 25630429 25630429 single base substitution C T synonymous_variant S82S 246C>T STAD-US 17 25630429 25630429 single base substitution C T synonymous_variant S89S 267C>T STAD-US 17 25630634 25630634 single base substitution C T downstream_gene_variant STAD-US 17 25630634 25630634 single base substitution C T exon_variant STAD-US 17 25630634 25630634 single base substitution C T intron_variant STAD-US 17 25630634 25630634 single base substitution C T missense_variant R120C 358C>T STAD-US 17 25630634 25630634 single base substitution C T missense_variant R151C 451C>T STAD-US 17 25630634 25630634 single base substitution C T missense_variant R158C 472C>T STAD-US 17 25630636 25630636 single base substitution T A downstream_gene_variant STAD-US 17 25630636 25630636 single base substitution T A exon_variant STAD-US 17 25630636 25630636 single base substitution T A intron_variant STAD-US 17 25630636 25630636 single base substitution T A synonymous_variant R120R 360T>A STAD-US 17 25630636 25630636 single base substitution T A synonymous_variant R151R 453T>A STAD-US 17 25630636 25630636 single base substitution T A synonymous_variant R158R 474T>A STAD-US 17 25637145 25637145 single base substitution C T downstream_gene_variant STAD-US 17 25637145 25637145 single base substitution C T exon_variant STAD-US 17 25637145 25637145 single base substitution C T stop_gained R169* 505C>T STAD-US 17 25637145 25637145 single base substitution C T stop_gained R315* 943C>T STAD-US 17 25639361 25639361 single base substitution C T downstream_gene_variant STAD-US 17 25639361 25639361 single base substitution C T exon_variant STAD-US 17 25639361 25639361 single base substitution C T missense_variant S265F 794C>T STAD-US 17 25639361 25639361 single base substitution C T missense_variant S411F 1232C>T THCA-SA 17 25633852 25633852 single base substitution A G 3_prime_UTR_variant THCA-SA 17 25633852 25633852 single base substitution A G downstream_gene_variant THCA-SA 17 25633852 25633852 single base substitution A G exon_variant THCA-SA 17 25633852 25633852 single base substitution A G missense_variant S188G 562A>G THCA-SA 17 25633852 25633852 single base substitution A G missense_variant S219G 655A>G THCA-SA 17 25633852 25633852 single base substitution A G missense_variant S29G 85A>G THCA-SA 17 25633852 25633852 single base substitution A G missense_variant S73G 217A>G UCEC-US 17 25628822 25628822 single base substitution C T exon_variant UCEC-US 17 25628822 25628822 single base substitution C T intron_variant UCEC-US 17 25628822 25628822 single base substitution C T missense_variant R17C 49C>T UCEC-US 17 25628822 25628822 single base substitution C T missense_variant R24C 70C>T UCEC-US 17 25628822 25628822 single base substitution C T upstream_gene_variant UCEC-US 17 25628876 25628876 single base substitution C T exon_variant UCEC-US 17 25628876 25628876 single base substitution C T intron_variant UCEC-US 17 25628876 25628876 single base substitution C T missense_variant R25C 73C>T UCEC-US 17 25628876 25628876 single base substitution C T missense_variant R35C 103C>T UCEC-US 17 25628876 25628876 single base substitution C T missense_variant R42C 124C>T UCEC-US 17 25628876 25628876 single base substitution C T upstream_gene_variant UCEC-US 17 25631877 25631877 single base substitution T G 3_prime_UTR_variant UCEC-US 17 25631877 25631877 single base substitution T G downstream_gene_variant UCEC-US 17 25631877 25631877 single base substitution T G exon_variant UCEC-US 17 25631877 25631877 single base substitution T G intron_variant UCEC-US 17 25631877 25631877 single base substitution T G missense_variant L153V 457T>G UCEC-US 17 25631877 25631877 single base substitution T G missense_variant L184V 550T>G UCEC-US 17 25631877 25631877 single base substitution T G missense_variant L191V 571T>G UCEC-US 17 25631877 25631877 single base substitution T G missense_variant L38V 112T>G UCEC-US 17 25633863 25633863 single base substitution C A 3_prime_UTR_variant UCEC-US 17 25633863 25633863 single base substitution C A downstream_gene_variant UCEC-US 17 25633863 25633863 single base substitution C A exon_variant UCEC-US 17 25633863 25633863 single base substitution C A missense_variant F191L 573C>A UCEC-US 17 25633863 25633863 single base substitution C A missense_variant F222L 666C>A UCEC-US 17 25633863 25633863 single base substitution C A missense_variant F32L 96C>A UCEC-US 17 25633863 25633863 single base substitution C A missense_variant F76L 228C>A UCEC-US 17 25636063 25636063 single base substitution A G downstream_gene_variant UCEC-US 17 25636063 25636063 single base substitution A G exon_variant UCEC-US 17 25636063 25636063 single base substitution A G intron_variant UCEC-US 17 25636075 25636075 single base substitution T G downstream_gene_variant UCEC-US 17 25636075 25636075 single base substitution T G exon_variant UCEC-US 17 25636075 25636075 single base substitution T G intron_variant UCEC-US 17 25636259 25636259 single base substitution T C downstream_gene_variant UCEC-US 17 25636259 25636259 single base substitution T C exon_variant UCEC-US 17 25636259 25636259 single base substitution T C missense_variant I136T 407T>C UCEC-US 17 25636259 25636259 single base substitution T C missense_variant I282T 845T>C UCEC-US 17 25636285 25636285 single base substitution C A downstream_gene_variant UCEC-US 17 25636285 25636285 single base substitution C A exon_variant UCEC-US 17 25636285 25636285 single base substitution C A missense_variant L145M 433C>A UCEC-US 17 25636285 25636285 single base substitution C A missense_variant L291M 871C>A UCEC-US 17 25639260 25639260 single base substitution T C downstream_gene_variant UCEC-US 17 25639260 25639260 single base substitution T C exon_variant UCEC-US 17 25639260 25639260 single base substitution T C synonymous_variant F231F 693T>C UCEC-US 17 25639260 25639260 single base substitution T C synonymous_variant F377F 1131T>C UCEC-US 17 25639342 25639342 single base substitution C T downstream_gene_variant UCEC-US 17 25639342 25639342 single base substitution C T exon_variant UCEC-US 17 25639342 25639342 single base substitution C T stop_gained Q259* 775C>T UCEC-US 17 25639342 25639342 single base substitution C T stop_gained Q405* 1213C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0UV-01 COSM976696 c.871C>A p.L291M Substitution - Missense 17:27309259-27309259 + BN43T COSM1609971 c.622A>G p.K208E Substitution - Missense 17:27306793-27306793 + SNU-175 COSM2799349 c.1259G>A p.R420H Substitution - Missense 17:27312362-27312362 + 587342 COSM1232858 c.209T>C p.F70S Substitution - Missense 17:27301956-27301956 + 587376 COSM1232859 c.325A>G p.I109V Substitution - Missense 17:27303482-27303482 + CHC1545T COSM4787511 c.1044T>G p.V348V Substitution - coding silent 17:27311554-27311554 + TCGA-D1-A103-01 COSM976695 c.845T>C p.I282T Substitution - Missense 17:27309233-27309233 + OSCC-GB_00630111 COSM4885005 c.1124T>C p.V375A Substitution - Missense 17:27312227-27312227 + TCGA-D1-A103-01 COSM976698 c.1213C>T p.Q405* Substitution - Nonsense 17:27312316-27312316 + DN14014 COSM5961024 c.1053G>A p.L351L Substitution - coding silent 17:27311563-27311563 + BD6T COSM5499291 c.185C>T p.P62L Substitution - Missense 17:27301932-27301932 + CHC1545T COSM4787511 c.1044T>G p.V348V Substitution - coding silent 17:27311554-27311554 + PD8964a COSM5782162 c.1107-8C>A p.? Unknown 17:27312202-27312202 + SNUH_G16_S1 COSM4000067 c.210-5T>C p.? Unknown 17:27303362-27303362 + TCGA-EB-A44N-01 COSM3515221 c.1249C>T p.L417F Substitution - Missense 17:27312352-27312352 + TCGA-B5-A0JY-01 COSM976693 c.550T>G p.L184V Substitution - Missense 17:27304851-27304851 + TCGA-EB-A41A-01 COSM3515219 c.1005G>T p.V335V Substitution - coding silent 17:27311515-27311515 + TCGA-IR-A3LK-01 COSM4817910 c.572G>C p.R191T Substitution - Missense 17:27304873-27304873 + ESCC_78 COSM5635461 c.1183A>G p.I395V Substitution - Missense 17:27312286-27312286 + pfg092T COSM4751463 c.427C>T p.L143F Substitution - Missense 17:27303584-27303584 + 587338 COSM1232857 c.916G>A p.A306T Substitution - Missense 17:27310092-27310092 + 115 COSM5013116 c.341C>T p.A114V Substitution - Missense 17:27303498-27303498 + TCGA-D3-A3BZ-06 COSM3515220 c.1215G>T p.Q405H Substitution - Missense 17:27312318-27312318 + BN43 COSM1609971 c.622A>G p.K208E Substitution - Missense 17:27306793-27306793 + LPJ023 COSM1315968 c.1016G>T p.R339I Substitution - Missense 17:27311526-27311526 + CSCC-29-T COSM4492568 c.39C>T p.I13I Substitution - coding silent 17:27294434-27294434 + TCGA-FW-A3R5-06 COSM3889435 c.213C>T p.L71L Substitution - coding silent 17:27303370-27303370 + CSCC-57-T COSM4501313 c.585C>T p.L195L Substitution - coding silent 17:27304886-27304886 + ESCC_BICR_017T COSM5442849 c.1044T>C p.V348V Substitution - coding silent 17:27311554-27311554 + TCGA-39-5019-01 COSM705895 c.935G>C p.R312P Substitution - Missense 17:27310111-27310111 + 824_T COSM2799349 c.1259G>A p.R420H Substitution - Missense 17:27312362-27312362 + CSCC-60-T COSM4563659 c.983G>T p.S328I Substitution - Missense 17:27310159-27310159 + TCGA-BR-A4PF-01 COSM4064804 c.152G>C p.W51S Substitution - Missense 17:27301899-27301899 + TCGA-AZ-4615-01 COSM3691435 c.257T>C p.L86S Substitution - Missense 17:27303414-27303414 + CHC1545T COSM4787634 c.256T>A p.L86M Substitution - Missense 17:27303413-27303413 + TCGA-E2-A109-01 COSM436200 c.934C>G p.R312G Substitution - Missense 17:27310110-27310110 + TCGA-A5-A0VP-01 COSM976692 c.103C>T p.R35C Substitution - Missense 17:27301850-27301850 + Pat_24_B COSM5852052 c.104G>A p.R35H Substitution - Missense 17:27301851-27301851 + YUROC COSM1470892 c.1229C>T p.P410L Substitution - Missense 17:27312332-27312332 + ESCC_102 COSM5638032 c.636G>T p.G212G Substitution - coding silent 17:27306807-27306807 + TCGA-EE-A3AA-06 COSM3515218 c.487C>T p.L163F Substitution - Missense 17:27304788-27304788 + ESCC_146 COSM5644654 c.632G>A p.R211K Substitution - Missense 17:27306803-27306803 + EGC15 COSM5055314 c.398G>A p.R133H Substitution - Missense 17:27303555-27303555 + TCGA-BR-8487-01 COSM4064809 c.1232C>T p.S411F Substitution - Missense 17:27312335-27312335 + HCC2998 COSM4631630 c.1218G>A p.E406E Substitution - coding silent 17:27312321-27312321 + TCGA-AJ-A23M-01 COSM976697 c.1131T>C p.F377F Substitution - coding silent 17:27312234-27312234 + Pat_63_B COSM2799329 c.79G>A p.A27T Substitution - Missense 17:27301826-27301826 + BD72T COSM2799332 c.167G>A p.R56H Substitution - Missense 17:27301914-27301914 + LUAD-D01603 COSM337465 c.103C>A p.R35S Substitution - Missense 17:27301850-27301850 + YUKLAB COSM1710028 c.538C>T p.P180S Substitution - Missense 17:27304839-27304839 + TCGA-BR-7851-01 COSM4064806 c.451C>T p.R151C Substitution - Missense 17:27303608-27303608 + T2944 COSM4741469 c.928A>G p.N310D Substitution - Missense 17:27310104-27310104 + PD18046a COSM5767956 c.397C>T p.R133C Substitution - Missense 17:27303554-27303554 + TCGA-HU-A4GQ-01 COSM4064805 c.246C>T p.S82S Substitution - coding silent 17:27303403-27303403 + TCGA-A2-A3Y0-01 COSM3819068 c.361G>C p.E121Q Substitution - Missense 17:27303518-27303518 + LUAD-B02515 COSM336071 c.701C>G p.A234G Substitution - Missense 17:27306872-27306872 + TCGA-A6-6141-01 COSM1381565 c.881T>G p.F294C Substitution - Missense 17:27309269-27309269 + NCI-H322M COSM1194913 c.55A>G p.I19V Substitution - Missense 17:27301802-27301802 + KM12 COSM2799340 c.632delG p.H213fs*36 Deletion - Frameshift 17:27306803-27306803 + T3202 COSM4741468 c.483A>G p.K161K Substitution - coding silent 17:27304784-27304784 + SNUH_G16_S1 COSM4000066 c.47T>C p.L16S Substitution - Missense 17:27301794-27301794 + TCGA-CA-6717-01 COSM1381564 c.452G>A p.R151H Substitution - Missense 17:27303609-27303609 + LUAD-B02216 COSM335441 c.545G>T p.G182V Substitution - Missense 17:27304846-27304846 + B85-0-Tumor COSM3932519 c.1026G>A p.E342E Substitution - coding silent 17:27311536-27311536 + S0029 COSM5882824 c.1253C>T p.S418L Substitution - Missense 17:27312356-27312356 + ZZUFHECRKL-G062T COSM4264932 c.1106+9A>T p.? Unknown 17:27311625-27311625 + CSCC-32-T COSM4460133 c.1153C>T p.P385S Substitution - Missense 17:27312256-27312256 + H441 COSM1193597 c.827A>T p.Y276F Substitution - Missense 17:27309215-27309215 + CHC1545T COSM4787634 c.256T>A p.L86M Substitution - Missense 17:27303413-27303413 + H322T COSM1194913 c.55A>G p.I19V Substitution - Missense 17:27301802-27301802 + TCGA-BS-A0UV-01 COSM976694 c.666C>A p.F222L Substitution - Missense 17:27306837-27306837 + TCGA-G9-7521-01 COSM1470892 c.1229C>T p.P410L Substitution - Missense 17:27312332-27312332 + RK308_C01 COSM2799349 c.1259G>A p.R420H Substitution - Missense 17:27312362-27312362 + TCGA-HJ-7597-01 COSM4064807 c.453T>A p.R151R Substitution - coding silent 17:27303610-27303610 + TCGA-CC-A3MA-01 COSM4942792 c.474T>A p.Y158* Substitution - Nonsense 17:27303631-27303631 + PTC_448 COSM5959350 c.655A>G p.S219G Substitution - Missense 17:27306826-27306826 + PD13771a COSM5780410 c.944G>T p.R315L Substitution - Missense 17:27310120-27310120 + TCGA-BR-A4QL-01 COSM4064808 c.943C>T p.R315* Substitution - Nonsense 17:27310119-27310119 + PT40 COSM5924088 c.947C>T p.S316F Substitution - Missense 17:27310123-27310123 + ESO-105 COSM1270530 c.1199C>T p.P400L Substitution - Missense 17:27312302-27312302 + C086 COSM5541803 c.933C>T p.D311D Substitution - coding silent 17:27310109-27310109 + TCGA-AP-A051-01 COSM976691 c.49C>T p.R17C Substitution - Missense 17:27301796-27301796 + TCGA-EW-A1OZ-01 COSM1479340 c.953C>A p.S318Y Substitution - Missense 17:27310129-27310129 + Pat_65_A COSM5852053 c.826_827delTA p.Y276fs*1 Deletion - Frameshift 17:27309214-27309215 + PT23_2 COSM5903958 c.895C>T p.P299S Substitution - Missense 17:27310071-27310071 + TCGA-GN-A262-06 COSM3515217 c.151T>G p.W51G Substitution - Missense 17:27301898-27301898 + PT25 COSM4000067 c.210-5T>C p.? Unknown 17:27303362-27303362 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.446017 17q11.1 610091

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A IntronicInsertion . c.712-881dupA 17 25635234 HC C A Missense p.S318Y c.953C>A 17 25637155 BRCA C G Missense p.R312G c.934C>G 17 25637136 BRCA C T Missense p.L163F c.487C>T 17 25631814 CM C T Missense p.P299S c.895C>T 17 25637097 CM C T Missense p.P400L c.1199C>T 17 25639328 ESCA C T Missense p.P410L c.1229C>T 17 25639358 PRAD C T Missense p.R35C c.103C>T 17 25628876 UCEC C T Missense p.R56C c.166C>T 17 25628939 CM C T Synonymous p.D372D c.1116C>T 17 25639245 STAD G A Missense p.C356Y c.1067G>A 17 25638603 STAD G C Missense p.R312P c.935G>C 17 25637137 LUSC G T Missense p.G116V c.347G>T 17 25630530 LUAD G T Missense p.G54V c.161G>T 17 25628934 HNSC G T Missense p.Q405H c.1215G>T 17 25639344 CM G T Synonymous p.V187V c.561G>T 17 25631888 LUAD T C IntronicSNV . c.712-622T>C 17 25635504 DLBCL T C Missense p.I109T c.326T>C 17 25630509 LUAD T C Synonymous p.F377F c.1131T>C 17 25639260 UCEC T G Missense p.W51G c.151T>G 17 25628924 CM