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 27071271 27071271 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr17:27071271C>G c.141C>G c.(139-141)ctC>ctG p.L47L BLCA 17 27075334 27075357 + In_Frame_Del DEL GCCCGCATGATGCGGCGGCTGCTG GCCCGCATGATGCGGCGGCTGCTG - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:27075334_27075357delGCCCGCATGATGCGGCGGCTGCTG c.517_540delGCCCGCATGATGCGGCGGCTGCTG c.(517-540)gcccgcatgatgcggcggctgctgdel p.ARMMRRLL173del BLCA 17 27075418 27075418 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:27075418G>A c.601G>A c.(601-603)Gag>Aag p.E201K BLCA 17 27076062 27076062 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr17:27076062G>C c.880G>C c.(880-882)Gag>Cag p.E294Q BLCA 17 27076071 27076071 + Nonsense_Mutation SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr17:27076071C>T c.889C>T c.(889-891)Cga>Tga p.R297* BLCA 17 27076569 27076569 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:27076569G>A c.1387G>A c.(1387-1389)Gaa>Aaa p.E463K BRCA 17 27075097 27075097 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 g.chr17:27075097G>A c.363G>A c.(361-363)ctG>ctA p.L121L BRCA 17 27075180 27075180 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 g.chr17:27075180G>A c.446G>A c.(445-447)aGt>aAt p.S149N BRCA 17 27075546 27075546 + Silent SNP C C T TCGA-GM-A3XN-01A-12D-A22X-09 TCGA-GM-A3XN-10A-01D-A22X-09 g.chr17:27075546C>T c.642C>T c.(640-642)tgC>tgT p.C214C BRCA 17 27076034 27076034 + Silent SNP G G A TCGA-A7-A56D-01A-11D-A27P-09 TCGA-A7-A56D-10A-01D-A27P-09 g.chr17:27076034G>A c.852G>A c.(850-852)ctG>ctA p.L284L BRCA 17 27076323 27076323 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr17:27076323C>T c.1141C>T c.(1141-1143)Ccc>Tcc p.P381S BRCA 17 27076377 27076377 + Missense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr17:27076377G>T c.1195G>T c.(1195-1197)Gct>Tct p.A399S CESC 17 27075394 27075394 + Nonsense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:27075394C>T c.577C>T c.(577-579)Cag>Tag p.Q193* CESC 17 27075426 27075426 + Silent SNP C C G TCGA-C5-A1BN-01B-11D-A14W-08 TCGA-C5-A1BN-10A-01D-A14W-08 g.chr17:27075426C>G c.609C>G c.(607-609)gtC>gtG p.V203V CHOL 17 27071215 27071215 + Missense_Mutation SNP G G A TCGA-W6-AA0S-01A-11D-A417-09 TCGA-W6-AA0S-10A-01D-A41A-09 g.chr17:27071215G>A c.85G>A c.(85-87)Gtg>Atg p.V29M CHOL 17 27075650 27075650 + Missense_Mutation SNP T T C TCGA-W5-AA2O-01A-11D-A417-09 TCGA-W5-AA2O-10A-01D-A41A-09 g.chr17:27075650T>C c.746T>C c.(745-747)cTc>cCc p.L249P CHOL 17 27076180 27076180 + Missense_Mutation SNP T T G TCGA-W5-AA2I-01A-32D-A417-09 TCGA-W5-AA2I-10A-01D-A41A-09 g.chr17:27076180T>G c.998T>G c.(997-999)tTc>tGc p.F333C COAD 17 27074909 27074909 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:27074909C>T c.244C>T c.(244-246)Cgc>Tgc p.R82C COAD 17 27076452 27076452 + Missense_Mutation SNP C C T TCGA-AA-3986-01A-02W-0995-10 TCGA-AA-3986-10A-01W-0999-10 g.chr17:27076452C>T c.1270C>T c.(1270-1272)Cgg>Tgg p.R424W COADREAD 17 27074909 27074909 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:27074909C>T c.244C>T c.(244-246)Cgc>Tgc p.R82C COADREAD 17 27076452 27076452 + Missense_Mutation SNP C C T TCGA-AA-3986-01A-02W-0995-10 TCGA-AA-3986-10A-01W-0999-10 g.chr17:27076452C>T c.1270C>T c.(1270-1272)Cgg>Tgg p.R424W ESCA 17 27071173 27071173 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr17:27071173C>G c.43C>G c.(43-45)Cgg>Ggg p.R15G ESCA 17 27075971 27075971 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chr17:27075971G>T c.789G>T c.(787-789)aaG>aaT p.K263N GBMLGG 17 27074931 27074931 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr17:27074931G>A c.266G>A c.(265-267)gGc>gAc p.G89D GBMLGG 17 27075049 27075049 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27075049C>A c.315C>A c.(313-315)acC>acA p.T105T GBMLGG 17 27076339 27076339 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27076339T>C c.1157T>C c.(1156-1158)gTc>gCc p.V386A GBMLGG 17 27076467 27076468 + Frame_Shift_Del DEL GA GA - TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr17:27076467_27076468delGA c.1285_1286delGA c.(1285-1287)gagfs p.E429fs HNSC 17 27075534 27075534 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 g.chr17:27075534C>T c.630C>T c.(628-630)caC>caT p.H210H KIPAN 17 27074242 27074243 + Frame_Shift_Ins INS - - C TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr17:27074242_27074243insC c.155_156insC c.(154-159)ttcaagfs p.K53fs KIPAN 17 27075315 27075315 + Nonsense_Mutation SNP C C A TCGA-BP-4331-01A-01D-1366-10 TCGA-BP-4331-11A-01D-1366-10 g.chr17:27075315C>A c.498C>A c.(496-498)taC>taA p.Y166* KIRC 17 27075315 27075315 + Nonsense_Mutation SNP C C A TCGA-BP-4331-01A-01D-1366-10 TCGA-BP-4331-11A-01D-1366-10 g.chr17:27075315C>A c.498C>A c.(496-498)taC>taA p.Y166* KIRP 17 27074242 27074243 + Frame_Shift_Ins INS - - C TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr17:27074242_27074243insC c.155_156insC c.(154-159)ttcaagfs p.K53fs LGG 17 27074931 27074931 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr17:27074931G>A c.266G>A c.(265-267)gGc>gAc p.G89D LGG 17 27075049 27075049 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27075049C>A c.315C>A c.(313-315)acC>acA p.T105T LGG 17 27076339 27076339 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:27076339T>C c.1157T>C c.(1156-1158)gTc>gCc p.V386A LGG 17 27076467 27076468 + Frame_Shift_Del DEL GA GA - TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr17:27076467_27076468delGA c.1285_1286delGA c.(1285-1287)gagfs p.E429fs LUAD 17 27075644 27075647 + Frame_Shift_Del DEL TGGT TGGT - TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr17:27075644_27075647delTGGT c.740_743delTGGT c.(739-744)ctggtgfs p.LV247fs LUAD 17 27076266 27076266 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr17:27076266C>G c.1084C>G c.(1084-1086)Cac>Gac p.H362D LUSC 17 27075299 27075299 + Missense_Mutation SNP C C T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr17:27075299C>T c.482C>T c.(481-483)cCc>cTc p.P161L LUSC 17 27076391 27076391 + Silent SNP C C T TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr17:27076391C>T c.1209C>T c.(1207-1209)caC>caT p.H403H PAAD 17 27071139 27071139 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:27071139C>T c.9C>T c.(7-9)ggC>ggT p.G3G PAAD 17 27075073 27075073 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:27075073C>T c.339C>T c.(337-339)tgC>tgT p.C113C PAAD 17 27076400 27076400 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:27076400G>A c.1218G>A c.(1216-1218)gaG>gaA p.E406E SARC 17 27076468 27076468 + Missense_Mutation SNP A A G TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 g.chr17:27076468A>G c.1286A>G c.(1285-1287)gAg>gGg p.E429G SKCM 17 27071154 27071154 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:27071154C>T c.24C>T c.(22-24)ttC>ttT p.F8F SKCM 17 27075074 27075074 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr17:27075074C>T c.340C>T c.(340-342)Cct>Tct p.P114S

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 27076200 27076200 single base substitution C T downstream_gene_variant BLCA-CN 17 27076200 27076200 single base substitution C T intron_variant BLCA-CN 17 27076200 27076200 single base substitution C T missense_variant H340Y 1018C>T BLCA-US 17 27068520 27068520 single base substitution G A upstream_gene_variant BLCA-US 17 27075334 27075357 deletion of <=200bp GCCCGCATGATGCGGCGGCTGCTG - 3_prime_UTR_variant BLCA-US 17 27075334 27075357 deletion of <=200bp GCCCGCATGATGCGGCGGCTGCTG - downstream_gene_variant BLCA-US 17 27075334 27075357 deletion of <=200bp GCCCGCATGATGCGGCGGCTGCTG - exon_variant BLCA-US 17 27075334 27075357 deletion of <=200bp GCCCGCATGATGCGGCGGCTGCTG - frameshift_variant ARM?180 BLCA-US 17 27075334 27075357 deletion of <=200bp GCCCGCATGATGCGGCGGCTGCTG - inframe_deletion ARMMRRLL173 BLCA-US 17 27075334 27075357 deletion of <=200bp GCCCGCATGATGCGGCGGCTGCTG - inframe_deletion ARMMRRLL55 BLCA-US 17 27075334 27075357 deletion of <=200bp GCCCGCATGATGCGGCGGCTGCTG - intron_variant BLCA-US 17 27075418 27075418 single base substitution G A 3_prime_UTR_variant BLCA-US 17 27075418 27075418 single base substitution G A downstream_gene_variant BLCA-US 17 27075418 27075418 single base substitution G A exon_variant BLCA-US 17 27075418 27075418 single base substitution G A intron_variant BLCA-US 17 27075418 27075418 single base substitution G A missense_variant E201K 601G>A BLCA-US 17 27075418 27075418 single base substitution G A missense_variant E83K 247G>A BLCA-US 17 27076071 27076071 single base substitution C T downstream_gene_variant BLCA-US 17 27076071 27076071 single base substitution C T intron_variant BLCA-US 17 27076071 27076071 single base substitution C T stop_gained R297* 889C>T BLCA-US 17 27076569 27076569 single base substitution G A downstream_gene_variant BLCA-US 17 27076569 27076569 single base substitution G A intron_variant BLCA-US 17 27076569 27076569 single base substitution G A missense_variant E188K 562G>A BLCA-US 17 27076569 27076569 single base substitution G A missense_variant E463K 1387G>A BRCA-EU 17 27066022 27066022 single base substitution C T upstream_gene_variant BRCA-EU 17 27066056 27066056 single base substitution C T upstream_gene_variant BRCA-EU 17 27066091 27066091 single base substitution C T upstream_gene_variant BRCA-EU 17 27066108 27066108 single base substitution A C upstream_gene_variant BRCA-EU 17 27066624 27066624 single base substitution G A upstream_gene_variant BRCA-EU 17 27067800 27067803 deletion of <=200bp CTGT - upstream_gene_variant BRCA-EU 17 27069463 27069463 single base substitution T A upstream_gene_variant BRCA-EU 17 27069925 27069925 single base substitution T C upstream_gene_variant BRCA-EU 17 27070603 27070603 single base substitution G A upstream_gene_variant BRCA-EU 17 27071207 27071207 single base substitution G A exon_variant BRCA-EU 17 27071207 27071207 single base substitution G A missense_variant R26H 77G>A BRCA-EU 17 27071207 27071207 single base substitution G A upstream_gene_variant BRCA-EU 17 27071634 27071634 single base substitution G A intron_variant BRCA-EU 17 27071634 27071634 single base substitution G A upstream_gene_variant BRCA-EU 17 27071749 27071749 insertion of <=200bp - GACT 3_prime_UTR_variant BRCA-EU 17 27071749 27071749 insertion of <=200bp - GACT intron_variant BRCA-EU 17 27071749 27071749 insertion of <=200bp - GACT upstream_gene_variant BRCA-EU 17 27073510 27073510 single base substitution C T downstream_gene_variant BRCA-EU 17 27073510 27073510 single base substitution C T intron_variant BRCA-EU 17 27073510 27073510 single base substitution C T upstream_gene_variant BRCA-EU 17 27073910 27073910 single base substitution G T 5_prime_UTR_variant BRCA-EU 17 27073910 27073910 single base substitution G T downstream_gene_variant BRCA-EU 17 27073910 27073910 single base substitution G T intron_variant BRCA-EU 17 27073910 27073910 single base substitution G T upstream_gene_variant BRCA-EU 17 27073995 27073995 single base substitution G C 5_prime_UTR_variant BRCA-EU 17 27073995 27073995 single base substitution G C downstream_gene_variant BRCA-EU 17 27073995 27073995 single base substitution G C intron_variant BRCA-EU 17 27073995 27073995 single base substitution G C upstream_gene_variant BRCA-EU 17 27076670 27076670 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 27076670 27076670 single base substitution G T downstream_gene_variant BRCA-EU 17 27076670 27076670 single base substitution G T intron_variant BRCA-EU 17 27076681 27076681 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 27076681 27076681 single base substitution G A downstream_gene_variant BRCA-EU 17 27076681 27076681 single base substitution G A intron_variant BRCA-EU 17 27076766 27076766 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 27076766 27076766 single base substitution G C downstream_gene_variant BRCA-EU 17 27076766 27076766 single base substitution G C intron_variant BRCA-EU 17 27077844 27077844 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 27077844 27077844 single base substitution T C downstream_gene_variant BRCA-EU 17 27078578 27078578 single base substitution G A downstream_gene_variant BRCA-EU 17 27078624 27078627 deletion of <=200bp TCTT - downstream_gene_variant BRCA-EU 17 27079049 27079049 single base substitution G A downstream_gene_variant BRCA-EU 17 27079426 27079426 single base substitution C T downstream_gene_variant BRCA-EU 17 27080129 27080129 single base substitution G A downstream_gene_variant BRCA-EU 17 27081017 27081017 single base substitution A G downstream_gene_variant BRCA-EU 17 27081488 27081488 single base substitution T C downstream_gene_variant BRCA-EU 17 27081514 27081514 single base substitution C G downstream_gene_variant BRCA-EU 17 27081918 27081918 single base substitution G C downstream_gene_variant BRCA-EU 17 27082955 27082955 single base substitution C G downstream_gene_variant BRCA-FR 17 27067031 27067031 single base substitution T C upstream_gene_variant BRCA-FR 17 27071207 27071207 single base substitution G A exon_variant BRCA-FR 17 27071207 27071207 single base substitution G A missense_variant R26H 77G>A BRCA-FR 17 27071207 27071207 single base substitution G A upstream_gene_variant BRCA-FR 17 27073995 27073995 single base substitution G C 5_prime_UTR_variant BRCA-FR 17 27073995 27073995 single base substitution G C downstream_gene_variant BRCA-FR 17 27073995 27073995 single base substitution G C intron_variant BRCA-FR 17 27073995 27073995 single base substitution G C upstream_gene_variant BRCA-FR 17 27074111 27074111 single base substitution C T 5_prime_UTR_variant BRCA-FR 17 27074111 27074111 single base substitution C T downstream_gene_variant BRCA-FR 17 27074111 27074111 single base substitution C T intron_variant BRCA-FR 17 27074111 27074111 single base substitution C T upstream_gene_variant BRCA-FR 17 27075286 27075286 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 27075286 27075286 single base substitution G A downstream_gene_variant BRCA-FR 17 27075286 27075286 single base substitution G A exon_variant BRCA-FR 17 27075286 27075286 single base substitution G A intron_variant BRCA-FR 17 27075286 27075286 single base substitution G A missense_variant E157K 469G>A BRCA-FR 17 27075286 27075286 single base substitution G A missense_variant E164K 490G>A BRCA-FR 17 27075286 27075286 single base substitution G A missense_variant E39K 115G>A BRCA-FR 17 27076681 27076681 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 27076681 27076681 single base substitution G A downstream_gene_variant BRCA-FR 17 27076681 27076681 single base substitution G A intron_variant BRCA-FR 17 27081918 27081918 single base substitution G C downstream_gene_variant BRCA-UK 17 27066624 27066624 single base substitution G A upstream_gene_variant BRCA-UK 17 27067869 27067869 single base substitution C A upstream_gene_variant BRCA-UK 17 27068163 27068163 single base substitution C T upstream_gene_variant BRCA-UK 17 27076766 27076766 single base substitution G C 3_prime_UTR_variant BRCA-UK 17 27076766 27076766 single base substitution G C downstream_gene_variant BRCA-UK 17 27076766 27076766 single base substitution G C intron_variant BRCA-UK 17 27079426 27079426 single base substitution C T downstream_gene_variant BRCA-US 17 27067531 27067531 single base substitution C A upstream_gene_variant BRCA-US 17 27068449 27068449 single base substitution G C upstream_gene_variant BRCA-US 17 27068533 27068533 single base substitution C T upstream_gene_variant BRCA-US 17 27075097 27075097 single base substitution G A 3_prime_UTR_variant BRCA-US 17 27075097 27075097 single base substitution G A downstream_gene_variant BRCA-US 17 27075097 27075097 single base substitution G A exon_variant BRCA-US 17 27075097 27075097 single base substitution G A synonymous_variant L121L 363G>A BRCA-US 17 27075097 27075097 single base substitution G A synonymous_variant L128L 384G>A BRCA-US 17 27075097 27075097 single base substitution G A synonymous_variant L3L 9G>A BRCA-US 17 27075097 27075097 single base substitution G A upstream_gene_variant BRCA-US 17 27075180 27075180 single base substitution G A 3_prime_UTR_variant BRCA-US 17 27075180 27075180 single base substitution G A downstream_gene_variant BRCA-US 17 27075180 27075180 single base substitution G A exon_variant BRCA-US 17 27075180 27075180 single base substitution G A intron_variant BRCA-US 17 27075180 27075180 single base substitution G A missense_variant S149N 446G>A BRCA-US 17 27075180 27075180 single base substitution G A missense_variant S156N 467G>A BRCA-US 17 27075180 27075180 single base substitution G A missense_variant S31N 92G>A BRCA-US 17 27075546 27075546 single base substitution C T 3_prime_UTR_variant BRCA-US 17 27075546 27075546 single base substitution C T downstream_gene_variant BRCA-US 17 27075546 27075546 single base substitution C T exon_variant BRCA-US 17 27075546 27075546 single base substitution C T intron_variant BRCA-US 17 27075546 27075546 single base substitution C T synonymous_variant C214C 642C>T BRCA-US 17 27076034 27076034 single base substitution G A 3_prime_UTR_variant BRCA-US 17 27076034 27076034 single base substitution G A downstream_gene_variant BRCA-US 17 27076034 27076034 single base substitution G A exon_variant BRCA-US 17 27076034 27076034 single base substitution G A intron_variant BRCA-US 17 27076034 27076034 single base substitution G A synonymous_variant L284L 852G>A BRCA-US 17 27076323 27076323 single base substitution C T downstream_gene_variant BRCA-US 17 27076323 27076323 single base substitution C T intron_variant BRCA-US 17 27076323 27076323 single base substitution C T missense_variant P381S 1141C>T BRCA-US 17 27076377 27076377 single base substitution G T downstream_gene_variant BRCA-US 17 27076377 27076377 single base substitution G T intron_variant BRCA-US 17 27076377 27076377 single base substitution G T missense_variant A399S 1195G>T BTCA-JP 17 27071081 27071081 single base substitution G C 5_prime_UTR_variant BTCA-JP 17 27071081 27071081 single base substitution G C exon_variant BTCA-JP 17 27071081 27071081 single base substitution G C upstream_gene_variant BTCA-JP 17 27074948 27074948 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 27074948 27074948 single base substitution C T 5_prime_UTR_variant BTCA-JP 17 27074948 27074948 single base substitution C T downstream_gene_variant BTCA-JP 17 27074948 27074948 single base substitution C T exon_variant BTCA-JP 17 27074948 27074948 single base substitution C T missense_variant P102S 304C>T BTCA-JP 17 27074948 27074948 single base substitution C T missense_variant P95S 283C>T BTCA-JP 17 27074948 27074948 single base substitution C T upstream_gene_variant CESC-US 17 27075394 27075394 single base substitution C T 3_prime_UTR_variant CESC-US 17 27075394 27075394 single base substitution C T downstream_gene_variant CESC-US 17 27075394 27075394 single base substitution C T exon_variant CESC-US 17 27075394 27075394 single base substitution C T intron_variant CESC-US 17 27075394 27075394 single base substitution C T stop_gained Q193* 577C>T CESC-US 17 27075394 27075394 single base substitution C T stop_gained Q75* 223C>T CESC-US 17 27075426 27075426 single base substitution C G 3_prime_UTR_variant CESC-US 17 27075426 27075426 single base substitution C G downstream_gene_variant CESC-US 17 27075426 27075426 single base substitution C G exon_variant CESC-US 17 27075426 27075426 single base substitution C G intron_variant CESC-US 17 27075426 27075426 single base substitution C G synonymous_variant V203V 609C>G CESC-US 17 27075426 27075426 single base substitution C G synonymous_variant V85V 255C>G CESC-US 17 27076945 27076945 single base substitution G A 3_prime_UTR_variant CESC-US 17 27076945 27076945 single base substitution G A downstream_gene_variant CESC-US 17 27076945 27076945 single base substitution G A missense_variant E425K 1273G>A COAD-US 17 27067871 27067871 single base substitution C A upstream_gene_variant COAD-US 17 27068130 27068130 single base substitution G C upstream_gene_variant COAD-US 17 27068541 27068541 single base substitution G A upstream_gene_variant COAD-US 17 27068995 27068995 insertion of <=200bp - C upstream_gene_variant COAD-US 17 27076269 27076269 single base substitution C A downstream_gene_variant COAD-US 17 27076269 27076269 single base substitution C A intron_variant COAD-US 17 27076269 27076269 single base substitution C A missense_variant L363I 1087C>A COCA-CN 17 27066171 27066171 single base substitution G A upstream_gene_variant COCA-CN 17 27066334 27066334 single base substitution C G upstream_gene_variant COCA-CN 17 27067385 27067385 single base substitution G T upstream_gene_variant COCA-CN 17 27067901 27067901 single base substitution G A upstream_gene_variant ESAD-UK 17 27066775 27066775 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 27067341 27067341 single base substitution C A upstream_gene_variant ESAD-UK 17 27067471 27067471 single base substitution C T upstream_gene_variant ESAD-UK 17 27069334 27069334 single base substitution G A upstream_gene_variant ESAD-UK 17 27070372 27070372 deletion of <=200bp C - upstream_gene_variant ESAD-UK 17 27071377 27071377 single base substitution G C intron_variant ESAD-UK 17 27071377 27071377 single base substitution G C upstream_gene_variant ESAD-UK 17 27072135 27072135 single base substitution G T intron_variant ESAD-UK 17 27072135 27072135 single base substitution G T upstream_gene_variant ESAD-UK 17 27072405 27072405 single base substitution G C 3_prime_UTR_variant ESAD-UK 17 27072405 27072405 single base substitution G C intron_variant ESAD-UK 17 27072405 27072405 single base substitution G C upstream_gene_variant ESAD-UK 17 27077324 27077324 single base substitution A G 3_prime_UTR_variant ESAD-UK 17 27077324 27077324 single base substitution A G downstream_gene_variant ESAD-UK 17 27079445 27079445 single base substitution T C downstream_gene_variant ESCA-CN 17 27074565 27074565 single base substitution G C downstream_gene_variant ESCA-CN 17 27074565 27074565 single base substitution G C exon_variant ESCA-CN 17 27074565 27074565 single base substitution G C intron_variant ESCA-CN 17 27074565 27074565 single base substitution G C upstream_gene_variant KIRC-US 17 27075315 27075315 single base substitution C A 3_prime_UTR_variant KIRC-US 17 27075315 27075315 single base substitution C A downstream_gene_variant KIRC-US 17 27075315 27075315 single base substitution C A exon_variant KIRC-US 17 27075315 27075315 single base substitution C A intron_variant KIRC-US 17 27075315 27075315 single base substitution C A stop_gained Y166* 498C>A KIRC-US 17 27075315 27075315 single base substitution C A stop_gained Y173* 519C>A KIRC-US 17 27075315 27075315 single base substitution C A stop_gained Y48* 144C>A KIRP-US 17 27074242 27074242 insertion of <=200bp - C 5_prime_UTR_variant KIRP-US 17 27074242 27074242 insertion of <=200bp - C downstream_gene_variant KIRP-US 17 27074242 27074242 insertion of <=200bp - C exon_variant KIRP-US 17 27074242 27074242 insertion of <=200bp - C frameshift_variant F52S? KIRP-US 17 27074242 27074242 insertion of <=200bp - C upstream_gene_variant LAML-KR 17 27081010 27081010 single base substitution T C downstream_gene_variant LAML-KR 17 27081026 27081026 single base substitution T A downstream_gene_variant LGG-US 17 27068158 27068158 single base substitution C T upstream_gene_variant LGG-US 17 27076467 27076468 deletion of <=200bp GA - downstream_gene_variant LGG-US 17 27076467 27076468 deletion of <=200bp GA - frameshift_variant E429 LGG-US 17 27076467 27076468 deletion of <=200bp GA - intron_variant LGG-US 17 27076467 27076468 deletion of <=200bp GA - splice_acceptor_variant LICA-CN 17 27067607 27067607 single base substitution A G upstream_gene_variant LICA-FR 17 27076424 27076428 deletion of <=200bp GAAGA - downstream_gene_variant LICA-FR 17 27076424 27076428 deletion of <=200bp GAAGA - frameshift_variant WKN414 LICA-FR 17 27076424 27076428 deletion of <=200bp GAAGA - intron_variant LICA-FR 17 27078473 27078473 single base substitution C A downstream_gene_variant LICA-FR 17 27079774 27079774 single base substitution A T downstream_gene_variant LINC-JP 17 27068144 27068144 single base substitution G A upstream_gene_variant LINC-JP 17 27068525 27068525 single base substitution G C upstream_gene_variant LINC-JP 17 27068769 27068769 single base substitution T A upstream_gene_variant LIRI-JP 17 27066462 27066462 single base substitution C G upstream_gene_variant LIRI-JP 17 27072031 27072031 single base substitution A C intron_variant LIRI-JP 17 27072031 27072031 single base substitution A C upstream_gene_variant LIRI-JP 17 27073715 27073715 single base substitution C T downstream_gene_variant LIRI-JP 17 27073715 27073715 single base substitution C T intron_variant LIRI-JP 17 27073715 27073715 single base substitution C T upstream_gene_variant LIRI-JP 17 27075800 27075800 single base substitution G A downstream_gene_variant LIRI-JP 17 27075800 27075800 single base substitution G A intron_variant LIRI-JP 17 27077160 27077160 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 27077160 27077160 single base substitution G A downstream_gene_variant LIRI-JP 17 27078753 27078753 single base substitution T C downstream_gene_variant LIRI-JP 17 27080036 27080036 single base substitution A G downstream_gene_variant LIRI-JP 17 27082518 27082518 single base substitution A T downstream_gene_variant LUSC-KR 17 27070174 27070174 single base substitution G C upstream_gene_variant LUSC-KR 17 27081010 27081010 single base substitution T C downstream_gene_variant LUSC-KR 17 27081026 27081026 single base substitution T A downstream_gene_variant LUSC-US 17 27066122 27066122 single base substitution G A upstream_gene_variant LUSC-US 17 27075299 27075299 single base substitution C T 3_prime_UTR_variant LUSC-US 17 27075299 27075299 single base substitution C T downstream_gene_variant LUSC-US 17 27075299 27075299 single base substitution C T exon_variant LUSC-US 17 27075299 27075299 single base substitution C T intron_variant LUSC-US 17 27075299 27075299 single base substitution C T missense_variant P161L 482C>T LUSC-US 17 27075299 27075299 single base substitution C T missense_variant P168L 503C>T LUSC-US 17 27075299 27075299 single base substitution C T missense_variant P43L 128C>T LUSC-US 17 27076391 27076391 single base substitution C T downstream_gene_variant LUSC-US 17 27076391 27076391 single base substitution C T intron_variant LUSC-US 17 27076391 27076391 single base substitution C T synonymous_variant H403H 1209C>T MALY-DE 17 27071041 27071041 single base substitution C A 5_prime_UTR_variant MALY-DE 17 27071041 27071041 single base substitution C A exon_variant MALY-DE 17 27071041 27071041 single base substitution C A upstream_gene_variant MALY-DE 17 27071754 27071754 single base substitution G A 3_prime_UTR_variant MALY-DE 17 27071754 27071754 single base substitution G A intron_variant MALY-DE 17 27071754 27071754 single base substitution G A upstream_gene_variant MALY-DE 17 27072136 27072148 deletion of <=200bp AGTCGGCCACTGC - intron_variant MALY-DE 17 27072136 27072148 deletion of <=200bp AGTCGGCCACTGC - upstream_gene_variant MALY-DE 17 27072213 27072213 single base substitution C T intron_variant MALY-DE 17 27072213 27072213 single base substitution C T upstream_gene_variant MALY-DE 17 27072263 27072263 single base substitution G A intron_variant MALY-DE 17 27072263 27072263 single base substitution G A upstream_gene_variant MALY-DE 17 27079313 27079313 single base substitution T A downstream_gene_variant MELA-AU 17 27066802 27066802 single base substitution C T upstream_gene_variant MELA-AU 17 27066978 27066978 single base substitution G A upstream_gene_variant MELA-AU 17 27067332 27067332 single base substitution G A upstream_gene_variant MELA-AU 17 27067761 27067761 single base substitution G A upstream_gene_variant MELA-AU 17 27067870 27067870 single base substitution C T upstream_gene_variant MELA-AU 17 27067958 27067958 single base substitution C T upstream_gene_variant MELA-AU 17 27068194 27068194 single base substitution G A upstream_gene_variant MELA-AU 17 27068652 27068652 single base substitution C T upstream_gene_variant MELA-AU 17 27069011 27069011 single base substitution C T upstream_gene_variant MELA-AU 17 27070309 27070309 single base substitution C T upstream_gene_variant MELA-AU 17 27070984 27070984 single base substitution C T upstream_gene_variant MELA-AU 17 27072256 27072256 single base substitution C T intron_variant MELA-AU 17 27072256 27072256 single base substitution C T upstream_gene_variant MELA-AU 17 27073510 27073510 single base substitution C T downstream_gene_variant MELA-AU 17 27073510 27073510 single base substitution C T intron_variant MELA-AU 17 27073510 27073510 single base substitution C T upstream_gene_variant MELA-AU 17 27073774 27073774 single base substitution G T 5_prime_UTR_variant MELA-AU 17 27073774 27073774 single base substitution G T downstream_gene_variant MELA-AU 17 27073774 27073774 single base substitution G T intron_variant MELA-AU 17 27073774 27073774 single base substitution G T upstream_gene_variant MELA-AU 17 27073784 27073784 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 27073784 27073784 single base substitution C T downstream_gene_variant MELA-AU 17 27073784 27073784 single base substitution C T intron_variant MELA-AU 17 27073784 27073784 single base substitution C T upstream_gene_variant MELA-AU 17 27074425 27074425 single base substitution C T downstream_gene_variant MELA-AU 17 27074425 27074425 single base substitution C T exon_variant MELA-AU 17 27074425 27074425 single base substitution C T intron_variant MELA-AU 17 27074425 27074425 single base substitution C T upstream_gene_variant MELA-AU 17 27074832 27074832 single base substitution C T downstream_gene_variant MELA-AU 17 27074832 27074832 single base substitution C T exon_variant MELA-AU 17 27074832 27074832 single base substitution C T intron_variant MELA-AU 17 27074832 27074832 single base substitution C T splice_region_variant MELA-AU 17 27074832 27074832 single base substitution C T upstream_gene_variant MELA-AU 17 27075701 27075701 single base substitution C T downstream_gene_variant MELA-AU 17 27075701 27075701 single base substitution C T exon_variant MELA-AU 17 27075701 27075701 single base substitution C T intron_variant MELA-AU 17 27081641 27081641 single base substitution G A downstream_gene_variant MELA-AU 17 27081808 27081808 single base substitution T C downstream_gene_variant MELA-AU 17 27081809 27081809 insertion of <=200bp - C downstream_gene_variant MELA-AU 17 27082180 27082180 single base substitution G A downstream_gene_variant MELA-AU 17 27082902 27082902 single base substitution G A downstream_gene_variant ORCA-IN 17 27073619 27073619 single base substitution C T downstream_gene_variant ORCA-IN 17 27073619 27073619 single base substitution C T intron_variant ORCA-IN 17 27073619 27073619 single base substitution C T upstream_gene_variant ORCA-IN 17 27075990 27075990 single base substitution G T 3_prime_UTR_variant ORCA-IN 17 27075990 27075990 single base substitution G T downstream_gene_variant ORCA-IN 17 27075990 27075990 single base substitution G T exon_variant ORCA-IN 17 27075990 27075990 single base substitution G T intron_variant ORCA-IN 17 27075990 27075990 single base substitution G T missense_variant V270L 808G>T OV-AU 17 27068147 27068147 single base substitution C A upstream_gene_variant OV-AU 17 27068506 27068506 single base substitution G T upstream_gene_variant OV-AU 17 27069912 27069912 single base substitution G A upstream_gene_variant OV-AU 17 27075282 27075282 single base substitution C T downstream_gene_variant OV-AU 17 27075282 27075282 single base substitution C T intron_variant OV-AU 17 27075282 27075282 single base substitution C T splice_region_variant PACA-AU 17 27071858 27071858 single base substitution C T 3_prime_UTR_variant PACA-AU 17 27071858 27071858 single base substitution C T intron_variant PACA-AU 17 27071858 27071858 single base substitution C T upstream_gene_variant PACA-AU 17 27076531 27076531 single base substitution A G downstream_gene_variant PACA-AU 17 27076531 27076531 single base substitution A G intron_variant PACA-AU 17 27076531 27076531 single base substitution A G missense_variant Y175C 524A>G PACA-AU 17 27076531 27076531 single base substitution A G missense_variant Y450C 1349A>G PACA-AU 17 27078650 27078653 deletion of <=200bp ACTT - downstream_gene_variant PACA-AU 17 27079371 27079371 single base substitution G A downstream_gene_variant PACA-AU 17 27080532 27080532 single base substitution C A downstream_gene_variant PACA-CA 17 27071443 27071443 deletion of <=200bp C - intron_variant PACA-CA 17 27071443 27071443 deletion of <=200bp C - upstream_gene_variant PACA-CA 17 27073777 27073777 single base substitution C A 5_prime_UTR_variant PACA-CA 17 27073777 27073777 single base substitution C A downstream_gene_variant PACA-CA 17 27073777 27073777 single base substitution C A intron_variant PACA-CA 17 27073777 27073777 single base substitution C A upstream_gene_variant PACA-CA 17 27075400 27075400 insertion of <=200bp - GCACC 3_prime_UTR_variant PACA-CA 17 27075400 27075400 insertion of <=200bp - GCACC downstream_gene_variant PACA-CA 17 27075400 27075400 insertion of <=200bp - GCACC exon_variant PACA-CA 17 27075400 27075400 insertion of <=200bp - GCACC frameshift_variant C195AP? PACA-CA 17 27075400 27075400 insertion of <=200bp - GCACC frameshift_variant C77AP? PACA-CA 17 27075400 27075400 insertion of <=200bp - GCACC intron_variant PACA-CA 17 27076163 27076163 insertion of <=200bp - C downstream_gene_variant PACA-CA 17 27076163 27076163 insertion of <=200bp - C frameshift_variant K327N? PACA-CA 17 27076163 27076163 insertion of <=200bp - C intron_variant PACA-CA 17 27076282 27076282 single base substitution T C downstream_gene_variant PACA-CA 17 27076282 27076282 single base substitution T C intron_variant PACA-CA 17 27076282 27076282 single base substitution T C missense_variant I367T 1100T>C PACA-CA 17 27079925 27079925 single base substitution C T downstream_gene_variant PACA-CA 17 27080439 27080440 deletion of <=200bp TA - downstream_gene_variant PACA-CA 17 27082713 27082713 single base substitution A T downstream_gene_variant PAEN-AU 17 27067289 27067289 single base substitution G A upstream_gene_variant PAEN-AU 17 27072499 27072499 single base substitution A C 3_prime_UTR_variant PAEN-AU 17 27072499 27072499 single base substitution A C intron_variant PAEN-AU 17 27072499 27072499 single base substitution A C upstream_gene_variant PBCA-DE 17 27067672 27067672 single base substitution C A upstream_gene_variant PBCA-DE 17 27069580 27069580 single base substitution A C upstream_gene_variant PBCA-DE 17 27078248 27078248 deletion of <=200bp A - downstream_gene_variant PRAD-UK 17 27074446 27074446 single base substitution G T downstream_gene_variant PRAD-UK 17 27074446 27074446 single base substitution G T exon_variant PRAD-UK 17 27074446 27074446 single base substitution G T intron_variant PRAD-UK 17 27074446 27074446 single base substitution G T upstream_gene_variant RECA-EU 17 27079608 27079608 single base substitution A G downstream_gene_variant SKCA-BR 17 27070973 27070973 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 17 27071315 27071315 single base substitution C G intron_variant SKCA-BR 17 27071315 27071315 single base substitution C G upstream_gene_variant SKCA-BR 17 27080048 27080048 insertion of <=200bp - GA downstream_gene_variant SKCM-US 17 27066202 27066202 single base substitution G A upstream_gene_variant SKCM-US 17 27067605 27067605 deletion of <=200bp C - upstream_gene_variant SKCM-US 17 27067869 27067869 single base substitution C T upstream_gene_variant SKCM-US 17 27068554 27068554 single base substitution C T upstream_gene_variant SKCM-US 17 27071154 27071154 single base substitution C T exon_variant SKCM-US 17 27071154 27071154 single base substitution C T synonymous_variant F8F 24C>T SKCM-US 17 27071154 27071154 single base substitution C T upstream_gene_variant SKCM-US 17 27075074 27075074 single base substitution C T 3_prime_UTR_variant SKCM-US 17 27075074 27075074 single base substitution C T 5_prime_UTR_variant SKCM-US 17 27075074 27075074 single base substitution C T downstream_gene_variant SKCM-US 17 27075074 27075074 single base substitution C T exon_variant SKCM-US 17 27075074 27075074 single base substitution C T missense_variant P114S 340C>T SKCM-US 17 27075074 27075074 single base substitution C T missense_variant P121S 361C>T SKCM-US 17 27075074 27075074 single base substitution C T upstream_gene_variant STAD-US 17 27067543 27067543 single base substitution G T upstream_gene_variant STAD-US 17 27067956 27067956 single base substitution C A upstream_gene_variant STAD-US 17 27068189 27068189 single base substitution G A upstream_gene_variant STAD-US 17 27068452 27068452 single base substitution G A upstream_gene_variant STAD-US 17 27068463 27068463 single base substitution C T upstream_gene_variant STAD-US 17 27068496 27068496 insertion of <=200bp - G upstream_gene_variant STAD-US 17 27068996 27068996 deletion of <=200bp C - upstream_gene_variant STAD-US 17 27071132 27071132 single base substitution T C exon_variant STAD-US 17 27071132 27071132 single base substitution T C start_lost M1T 2T>C STAD-US 17 27071132 27071132 single base substitution T C upstream_gene_variant STAD-US 17 27071213 27071213 single base substitution C A exon_variant STAD-US 17 27071213 27071213 single base substitution C A missense_variant P28H 83C>A STAD-US 17 27071213 27071213 single base substitution C A upstream_gene_variant STAD-US 17 27076100 27076100 single base substitution T C downstream_gene_variant STAD-US 17 27076100 27076100 single base substitution T C intron_variant STAD-US 17 27076100 27076100 single base substitution T C synonymous_variant S306S 918T>C STAD-US 17 27076177 27076177 single base substitution G A downstream_gene_variant STAD-US 17 27076177 27076177 single base substitution G A intron_variant STAD-US 17 27076177 27076177 single base substitution G A missense_variant C332Y 995G>A THCA-SA 17 27075423 27075423 single base substitution C T 3_prime_UTR_variant THCA-SA 17 27075423 27075423 single base substitution C T downstream_gene_variant THCA-SA 17 27075423 27075423 single base substitution C T exon_variant THCA-SA 17 27075423 27075423 single base substitution C T intron_variant THCA-SA 17 27075423 27075423 single base substitution C T synonymous_variant F202F 606C>T THCA-SA 17 27075423 27075423 single base substitution C T synonymous_variant F84F 252C>T THCA-SA 17 27077331 27077331 single base substitution A G 3_prime_UTR_variant THCA-SA 17 27077331 27077331 single base substitution A G downstream_gene_variant THCA-US 17 27068491 27068491 single base substitution A G upstream_gene_variant THCA-US 17 27074944 27074944 single base substitution T A 3_prime_UTR_variant THCA-US 17 27074944 27074944 single base substitution T A 5_prime_UTR_variant THCA-US 17 27074944 27074944 single base substitution T A downstream_gene_variant THCA-US 17 27074944 27074944 single base substitution T A exon_variant THCA-US 17 27074944 27074944 single base substitution T A missense_variant S100R 300T>A THCA-US 17 27074944 27074944 single base substitution T A missense_variant S93R 279T>A THCA-US 17 27074944 27074944 single base substitution T A upstream_gene_variant UCEC-US 17 27067510 27067510 single base substitution C T upstream_gene_variant UCEC-US 17 27067575 27067575 single base substitution C T upstream_gene_variant UCEC-US 17 27067964 27067964 single base substitution A G upstream_gene_variant UCEC-US 17 27068482 27068482 single base substitution G A upstream_gene_variant UCEC-US 17 27075639 27075639 single base substitution C T 3_prime_UTR_variant UCEC-US 17 27075639 27075639 single base substitution C T downstream_gene_variant UCEC-US 17 27075639 27075639 single base substitution C T exon_variant UCEC-US 17 27075639 27075639 single base substitution C T intron_variant UCEC-US 17 27075639 27075639 single base substitution C T synonymous_variant T245T 735C>T UCEC-US 17 27076342 27076342 single base substitution C T downstream_gene_variant UCEC-US 17 27076342 27076342 single base substitution C T intron_variant UCEC-US 17 27076342 27076342 single base substitution C T missense_variant T387I 1160C>T UCEC-US 17 27076342 27076342 single base substitution C T splice_region_variant UCEC-US 17 27076452 27076452 single base substitution C T downstream_gene_variant UCEC-US 17 27076452 27076452 single base substitution C T intron_variant UCEC-US 17 27076452 27076452 single base substitution C T missense_variant R424W 1270C>T UCEC-US 17 27076525 27076525 single base substitution G T downstream_gene_variant UCEC-US 17 27076525 27076525 single base substitution G T intron_variant UCEC-US 17 27076525 27076525 single base substitution G T missense_variant R173L 518G>T UCEC-US 17 27076525 27076525 single base substitution G T missense_variant R448L 1343G>T UCEC-US 17 27076536 27076536 single base substitution C T downstream_gene_variant UCEC-US 17 27076536 27076536 single base substitution C T intron_variant UCEC-US 17 27076536 27076536 single base substitution C T missense_variant R177W 529C>T UCEC-US 17 27076536 27076536 single base substitution C T missense_variant R452W 1354C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-JW-A5VL-01 COSM4846738 c.577C>T p.Q193* Substitution - Nonsense 17:28748376-28748376 + OSCC-GB_00050111 COSM3712282 c.808G>T p.V270L Substitution - Missense 17:28748972-28748972 + TCGA-C8-A26Y-01 COSM3819155 c.1141C>T p.P381S Substitution - Missense 17:28749305-28749305 + MO_1192 COSM5565395 c.861G>A p.R287R Substitution - coding silent 17:28749025-28749025 + TCGA-C8-A26Y-01 COSM3819156 c.1195G>T p.A399S Substitution - Missense 17:28749359-28749359 + AOCS-106-1-1 COSM3983339 c.465C>T p.S155S Substitution - coding silent 17:28748264-28748264 + VCaP COSM238607 c.1343G>A p.R448Q Substitution - Missense 17:28749507-28749507 + TCGA-B5-A0K6-01 COSM977014 c.404C>T p.P135L Substitution - Missense 17:28748120-28748120 + Pat_37_B COSM5852110 c.571C>T p.R191C Substitution - Missense 17:28748370-28748370 + TCGA-FP-A4BE-01 COSM4065066 c.83C>A p.P28H Substitution - Missense 17:28744195-28744195 + 388 COSM98183 c.1342C>T p.R448* Substitution - Nonsense 17:28749506-28749506 + 8044814 COSM1157914 c.1349A>G p.Y450C Substitution - Missense 17:28749513-28749513 + TCGA-AP-A059-01 COSM977016 c.1160C>T p.T387I Substitution - Missense 17:28749324-28749324 + TCGA-E2-A2P5-01 COSM3819151 c.363G>A p.L121L Substitution - coding silent 17:28748079-28748079 + 98 COSM5015451 c.1169T>A p.L390Q Substitution - Missense 17:28749333-28749333 + 61 COSM5740922 c.520C>T p.R174C Substitution - Missense 17:28748319-28748319 + UM-SCC-2 COSM4599447 c.161G>T p.C54F Substitution - Missense 17:28747230-28747230 + TCGA-DK-A1AC-01 COSM1302568 c.601G>A p.E201K Substitution - Missense 17:28748400-28748400 + TCGA-A7-A56D-01 COSM3819154 c.852G>A p.L284L Substitution - coding silent 17:28749016-28749016 + HT115 COSM2800915 c.225A>T p.Q75H Substitution - Missense 17:28747872-28747872 + CSCC-31-T COSM4548571 c.450G>A p.G150G Substitution - coding silent 17:28748166-28748166 + TCGA-DK-A1AC-01 COSM1302570 c.1387G>A p.E463K Substitution - Missense 17:28749551-28749551 + PCSI_0341_Pa_P_526 COSM4807973 c.1100T>C p.I367T Substitution - Missense 17:28749264-28749264 + TCGA-BP-4331-01 COSM3362053 c.498C>A p.Y166* Substitution - Nonsense 17:28748297-28748297 + TCGA-DJ-A13U-01 COSM3370658 c.279T>A p.S93R Substitution - Missense 17:28747926-28747926 + DN1201B COSM5792883 c.77G>A p.R26H Substitution - Missense 17:28744189-28744189 + TCGA-AZ-4615-01 COSM3691455 c.1087C>A p.L363I Substitution - Missense 17:28749251-28749251 + Pat_41_B COSM5852111 c.1297G>A p.G433S Substitution - Missense 17:28749461-28749461 + 2492729 COSM5726195 c.1341G>A p.K447K Substitution - coding silent 17:28749505-28749505 + SNUH_G45_S1 COSM2800914 c.165T>C p.P55P Substitution - coding silent 17:28747234-28747234 + B86-Tumor COSM3932530 c.1018C>T p.H340Y Substitution - Missense 17:28749182-28749182 + CHC1545T COSM5347468 c.1242_1246delGAAGA p.W414fs*1 Deletion - Frameshift 17:28749406-28749410 + TCGA-BR-6452-01 COSM2800931 c.995G>A p.C332Y Substitution - Missense 17:28749159-28749159 + 86793 COSM95389 c.1103G>C p.R368P Substitution - Missense 17:28749267-28749267 + TCGA-66-2763-01 COSM705800 c.1209C>T p.H403H Substitution - coding silent 17:28749373-28749373 + TCGA-GM-A3XN-01 COSM3819153 c.642C>T p.C214C Substitution - coding silent 17:28748528-28748528 + 409 COSM4430672 c.156C>T p.F52F Substitution - coding silent 17:28747225-28747225 + ESCC_57 COSM5632331 c.899_900insGG p.E301fs*>171 Insertion - Frameshift 17:28749063-28749064 + PACA1130 COSM1157914 c.1349A>G p.Y450C Substitution - Missense 17:28749513-28749513 + 169 COSM3729680 c.1240T>C p.W414R Substitution - Missense 17:28749404-28749404 + TCGA-EE-A2MS-06 COSM3515510 c.24C>T p.F8F Substitution - coding silent 17:28744136-28744136 + TCGA-AA-3986-01 COSM297975 c.1270C>T p.R424W Substitution - Missense 17:28749434-28749434 + 61 COSM5740923 c.1096T>C p.Y366H Substitution - Missense 17:28749260-28749260 + TCGA-C5-A1BN-01 COSM4837132 c.609C>G p.V203V Substitution - coding silent 17:28748408-28748408 + 62 COSM4945308 c.1095G>C p.L365L Substitution - coding silent 17:28749259-28749259 + U2940 COSM5622037 c.1201C>T p.P401S Substitution - Missense 17:28749365-28749365 + TCGA-G2-A2ES-01 COSM1302569 c.889C>T p.R297* Substitution - Nonsense 17:28749053-28749053 + PTC-28C COSM4129782 c.606C>T p.F202F Substitution - coding silent 17:28748405-28748405 + TCGA-B5-A11E-01 COSM977015 c.735C>T p.T245T Substitution - coding silent 17:28748621-28748621 + 388 COSM98183 c.1342C>T p.R448* Substitution - Nonsense 17:28749506-28749506 + ESCC_46 COSM5630515 c.535C>G p.L179V Substitution - Missense 17:28748334-28748334 + TCGA-E2-A2P5-01 COSM3819152 c.446G>A p.S149N Substitution - Missense 17:28748162-28748162 + SNUH_G76_S1 COSM4417009 c.1337G>A p.R446Q Substitution - Missense 17:28749501-28749501 + TCGA-BR-6566-01 COSM4065065 c.2T>C p.M1T Substitution - Missense 17:28744114-28744114 + SUNE1 COSM4995721 c.955C>G p.R319G Substitution - Missense 17:28749119-28749119 + 5T COSM3712282 c.808G>T p.V270L Substitution - Missense 17:28748972-28748972 + PD13603a COSM5792883 c.77G>A p.R26H Substitution - Missense 17:28744189-28744189 + TCGA-BR-7851-01 COSM4065067 c.918T>C p.S306S Substitution - coding silent 17:28749082-28749082 + TCGA-AP-A0LD-01 COSM977018 c.1354C>T p.R452W Substitution - Missense 17:28749518-28749518 + TCGA-QB-A6FS-06 COSM3889460 c.340C>T p.P114S Substitution - Missense 17:28748056-28748056 + TCGA-B5-A0JY-01 COSM977017 c.1343G>T p.R448L Substitution - Missense 17:28749507-28749507 + pfg017T COSM1640623 c.546G>T p.Q182H Substitution - Missense 17:28748345-28748345 + TCGA-66-2787-01 COSM705801 c.482C>T p.P161L Substitution - Missense 17:28748281-28748281 + TCGA-AP-A0LM-01 COSM297975 c.1270C>T p.R424W Substitution - Missense 17:28749434-28749434 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.8375 17q11-q12 602464

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.T407S c.1219A>T 17 27076401 CM A T Nonsense p.K190* c.568A>T 17 27075385 CM C A Nonsense p.Y166* c.498C>A 17 27075315 RCCC C G Missense p.H362D c.1084C>G 17 27076266 LUAD C G Missense p.T229S c.686C>G 17 27075590 CM C T Missense p.P161L c.482C>T 17 27075299 LUSC C T Missense p.R424W c.1270C>T 17 27076452 COREAD C T Missense p.R452W c.1354C>T 17 27076536 UCEC C T Nonsense p.R297* c.889C>T 17 27076071 BLCA C T Synonymous p.F8F c.24C>T 17 27071154 CM C T Synonymous p.H210H c.630C>T 17 27075534 HNSC C T Synonymous p.H403H c.1209C>T 17 27076391 LUSC GA - Frameshift p.S430Ffs*24 c.1288_1289delAG 17 27076467 LGG G A Synonymous p.E56E c.168G>A 17 27074255 CM G C Missense p.E300Q c.898G>C 17 27076080 BRCA G T Missense p.Q182H c.546G>T 17 27075363 STAD T A Missense p.S93R c.279T>A 17 27074944 THCA