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 42268209 42268209 + Missense_Mutation SNP G G T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr17:42268209G>T c.943G>T c.(943-945)Gta>Tta p.V315L BRCA 17 42265092 42265092 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 g.chr17:42265092C>G c.16C>G c.(16-18)Ctt>Gtt p.L6V CESC 17 42266673 42266673 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:42266673G>A c.319G>A c.(319-321)Gat>Aat p.D107N COAD 17 42266785 42266785 + Missense_Mutation SNP C C A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr17:42266785C>A c.431C>A c.(430-432)cCc>cAc p.P144H COAD 17 42266939 42266939 + Silent SNP C C T TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr17:42266939C>T c.585C>T c.(583-585)acC>acT p.T195T COAD 17 42267982 42267982 + Frame_Shift_Del DEL A A - TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chr17:42267982delA c.716delA c.(715-717)cacfs p.H239fs COADREAD 17 42266785 42266785 + Missense_Mutation SNP C C A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr17:42266785C>A c.431C>A c.(430-432)cCc>cAc p.P144H COADREAD 17 42266939 42266939 + Silent SNP C C T TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr17:42266939C>T c.585C>T c.(583-585)acC>acT p.T195T COADREAD 17 42267982 42267982 + Frame_Shift_Del DEL A A - TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chr17:42267982delA c.716delA c.(715-717)cacfs p.H239fs ESCA 17 42266601 42266601 + Missense_Mutation SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr17:42266601C>T c.247C>T c.(247-249)Cat>Tat p.H83Y GBMLGG 17 42266537 42266537 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:42266537C>T c.183C>T c.(181-183)agC>agT p.S61S GBMLGG 17 42268191 42268191 + Missense_Mutation SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 g.chr17:42268191G>A c.925G>A c.(925-927)Gtc>Atc p.V309I HNSC 17 42266425 42266425 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr17:42266425C>G c.71C>G c.(70-72)tCt>tGt p.S24C HNSC 17 42266692 42266692 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr17:42266692C>T c.338C>T c.(337-339)gCg>gTg p.A113V HNSC 17 42266824 42266824 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr17:42266824C>T c.470C>T c.(469-471)gCc>gTc p.A157V HNSC 17 42266848 42266848 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr17:42266848C>T c.494C>T c.(493-495)aCc>aTc p.T165I HNSC 17 42268014 42268014 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr17:42268014C>T c.748C>T c.(748-750)Cca>Tca p.P250S HNSC 17 42268085 42268085 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr17:42268085C>T c.819C>T c.(817-819)ctC>ctT p.L273L HNSC 17 42268212 42268212 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:42268212T>A c.946T>A c.(946-948)Ttt>Att p.F316I KICH 17 42268154 42268154 + Silent SNP C C T TCGA-KN-8427-01A-11D-2310-10 TCGA-KN-8427-11A-01D-2311-10 g.chr17:42268154C>T c.888C>T c.(886-888)ttC>ttT p.F296F KIPAN 17 42265113 42265113 + Splice_Site SNP T T C TCGA-B0-4691-01A-01D-1361-10 TCGA-B0-4691-11A-01D-1361-10 g.chr17:42265113T>C c.e2+2 KIPAN 17 42266658 42266658 + Missense_Mutation SNP C C A TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr17:42266658C>A c.304C>A c.(304-306)Cca>Aca p.P102T KIPAN 17 42266747 42266747 + Silent SNP G G A TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr17:42266747G>A c.393G>A c.(391-393)gaG>gaA p.E131E KIPAN 17 42267972 42267972 + Missense_Mutation SNP T T A TCGA-UZ-A9PN-01A-11D-A382-10 TCGA-UZ-A9PN-10A-01D-A385-10 g.chr17:42267972T>A c.706T>A c.(706-708)Tgt>Agt p.C236S KIPAN 17 42268154 42268154 + Silent SNP C C T TCGA-KN-8427-01A-11D-2310-10 TCGA-KN-8427-11A-01D-2311-10 g.chr17:42268154C>T c.888C>T c.(886-888)ttC>ttT p.F296F KIRC 17 42265113 42265113 + Splice_Site SNP T T C TCGA-B0-4691-01A-01D-1361-10 TCGA-B0-4691-11A-01D-1361-10 g.chr17:42265113T>C c.e2+2 KIRC 17 42266658 42266658 + Missense_Mutation SNP C C A TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr17:42266658C>A c.304C>A c.(304-306)Cca>Aca p.P102T KIRC 17 42266747 42266747 + Silent SNP G G A TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr17:42266747G>A c.393G>A c.(391-393)gaG>gaA p.E131E KIRP 17 42267972 42267972 + Missense_Mutation SNP T T A TCGA-UZ-A9PN-01A-11D-A382-10 TCGA-UZ-A9PN-10A-01D-A385-10 g.chr17:42267972T>A c.706T>A c.(706-708)Tgt>Agt p.C236S LGG 17 42266537 42266537 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:42266537C>T c.183C>T c.(181-183)agC>agT p.S61S LGG 17 42268191 42268191 + Missense_Mutation SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 g.chr17:42268191G>A c.925G>A c.(925-927)Gtc>Atc p.V309I LIHC 17 42266396 42266396 + Silent SNP C C T TCGA-UB-A7MD-01A-12D-A34Z-10 TCGA-UB-A7MD-10A-01D-A34Z-10 g.chr17:42266396C>T c.42C>T c.(40-42)gaC>gaT p.D14D LIHC 17 42266521 42266521 + Missense_Mutation SNP C C T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr17:42266521C>T c.167C>T c.(166-168)aCc>aTc p.T56I LIHC 17 42266555 42266555 + Silent SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr17:42266555G>A c.201G>A c.(199-201)ctG>ctA p.L67L LUAD 17 42266554 42266554 + Missense_Mutation SNP T T G TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr17:42266554T>G c.200T>G c.(199-201)cTg>cGg p.L67R PAAD 17 42266863 42266863 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:42266863G>A c.509G>A c.(508-510)aGc>aAc p.S170N SKCM 17 42266514 42266514 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr17:42266514C>T c.160C>T c.(160-162)Ctc>Ttc p.L54F SKCM 17 42266947 42266947 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr17:42266947C>T c.593C>T c.(592-594)gCc>gTc p.A198V

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 42273461 42273461 single base substitution T C downstream_gene_variant BOCA-FR 17 42260384 42260385 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant BRCA-EU 17 42260220 42260220 single base substitution C T upstream_gene_variant BRCA-EU 17 42260452 42260452 single base substitution G A upstream_gene_variant BRCA-EU 17 42260465 42260465 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 42261346 42261346 single base substitution G A upstream_gene_variant BRCA-EU 17 42261897 42261897 single base substitution A T upstream_gene_variant BRCA-EU 17 42262037 42262037 single base substitution C T upstream_gene_variant BRCA-EU 17 42264292 42264292 single base substitution C T upstream_gene_variant BRCA-EU 17 42264344 42264349 deletion of <=200bp GCTTCC - 5_prime_UTR_variant BRCA-EU 17 42264344 42264349 deletion of <=200bp GCTTCC - upstream_gene_variant BRCA-EU 17 42265296 42265296 deletion of <=200bp G - 5_prime_UTR_variant BRCA-EU 17 42265296 42265296 deletion of <=200bp G - intron_variant BRCA-EU 17 42265296 42265296 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 42266518 42266518 single base substitution C T exon_variant BRCA-EU 17 42266518 42266518 single base substitution C T intron_variant BRCA-EU 17 42266518 42266518 single base substitution C T missense_variant S35F 104C>T BRCA-EU 17 42266518 42266518 single base substitution C T missense_variant S55F 164C>T BRCA-EU 17 42266518 42266518 single base substitution C T upstream_gene_variant BRCA-EU 17 42269377 42269377 insertion of <=200bp - G downstream_gene_variant BRCA-EU 17 42270079 42270079 single base substitution A G downstream_gene_variant BRCA-EU 17 42271201 42271201 single base substitution G A downstream_gene_variant BRCA-EU 17 42272296 42272296 single base substitution G A downstream_gene_variant BRCA-EU 17 42273126 42273126 single base substitution C A downstream_gene_variant BRCA-FR 17 42262037 42262037 single base substitution C T upstream_gene_variant BRCA-FR 17 42272296 42272296 single base substitution G A downstream_gene_variant BRCA-FR 17 42273930 42273930 single base substitution G A downstream_gene_variant BRCA-US 17 42265092 42265092 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 17 42265092 42265092 single base substitution C G intron_variant BRCA-US 17 42265092 42265092 single base substitution C G missense_variant L6V 16C>G BRCA-US 17 42265092 42265092 single base substitution C G upstream_gene_variant BTCA-JP 17 42271816 42271816 single base substitution T C downstream_gene_variant CESC-US 17 42266673 42266673 single base substitution G A intron_variant CESC-US 17 42266673 42266673 single base substitution G A missense_variant D107N 319G>A CESC-US 17 42266673 42266673 single base substitution G A missense_variant D87N 259G>A CESC-US 17 42266673 42266673 single base substitution G A splice_region_variant CESC-US 17 42266673 42266673 single base substitution G A upstream_gene_variant COAD-US 17 42266785 42266785 single base substitution C A intron_variant COAD-US 17 42266785 42266785 single base substitution C A missense_variant P124H 371C>A COAD-US 17 42266785 42266785 single base substitution C A missense_variant P144H 431C>A COAD-US 17 42266785 42266785 single base substitution C A missense_variant P16H 47C>A COAD-US 17 42266785 42266785 single base substitution C A missense_variant P87H 260C>A COAD-US 17 42266785 42266785 single base substitution C A splice_region_variant COAD-US 17 42267982 42267982 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 17 42267982 42267982 deletion of <=200bp A - downstream_gene_variant COAD-US 17 42267982 42267982 deletion of <=200bp A - frameshift_variant H111 COAD-US 17 42267982 42267982 deletion of <=200bp A - frameshift_variant H182 COAD-US 17 42267982 42267982 deletion of <=200bp A - frameshift_variant H219 COAD-US 17 42267982 42267982 deletion of <=200bp A - frameshift_variant H239 COAD-US 17 42267982 42267982 deletion of <=200bp A - frameshift_variant S53 COAD-US 17 42271911 42271911 single base substitution G A downstream_gene_variant COAD-US 17 42272170 42272170 single base substitution G A downstream_gene_variant COAD-US 17 42272199 42272199 single base substitution C T downstream_gene_variant COAD-US 17 42272802 42272802 single base substitution G A downstream_gene_variant COAD-US 17 42273403 42273403 insertion of <=200bp - T downstream_gene_variant COCA-CN 17 42268023 42268023 single base substitution T C 3_prime_UTR_variant COCA-CN 17 42268023 42268023 single base substitution T C downstream_gene_variant COCA-CN 17 42268023 42268023 single base substitution T C missense_variant L67P 200T>C COCA-CN 17 42268023 42268023 single base substitution T C missense_variant S125P 373T>C COCA-CN 17 42268023 42268023 single base substitution T C missense_variant S196P 586T>C COCA-CN 17 42268023 42268023 single base substitution T C missense_variant S233P 697T>C COCA-CN 17 42268023 42268023 single base substitution T C missense_variant S253P 757T>C COCA-CN 17 42268191 42268191 single base substitution G A 3_prime_UTR_variant COCA-CN 17 42268191 42268191 single base substitution G A downstream_gene_variant COCA-CN 17 42268191 42268191 single base substitution G A missense_variant V181I 541G>A COCA-CN 17 42268191 42268191 single base substitution G A missense_variant V252I 754G>A COCA-CN 17 42268191 42268191 single base substitution G A missense_variant V289I 865G>A COCA-CN 17 42268191 42268191 single base substitution G A missense_variant V309I 925G>A COCA-CN 17 42271760 42271760 single base substitution T C downstream_gene_variant COCA-CN 17 42272149 42272149 single base substitution G T downstream_gene_variant COCA-CN 17 42273830 42273830 single base substitution C A downstream_gene_variant ESAD-UK 17 42262570 42262570 single base substitution G A upstream_gene_variant ESAD-UK 17 42263471 42263471 single base substitution C T upstream_gene_variant ESAD-UK 17 42264290 42264290 single base substitution T C upstream_gene_variant ESAD-UK 17 42266552 42266552 single base substitution C G exon_variant ESAD-UK 17 42266552 42266552 single base substitution C G intron_variant ESAD-UK 17 42266552 42266552 single base substitution C G synonymous_variant L46L 138C>G ESAD-UK 17 42266552 42266552 single base substitution C G synonymous_variant L66L 198C>G ESAD-UK 17 42266552 42266552 single base substitution C G upstream_gene_variant ESAD-UK 17 42270984 42270984 single base substitution C T downstream_gene_variant ESAD-UK 17 42271444 42271444 single base substitution A C downstream_gene_variant ESAD-UK 17 42272107 42272107 deletion of <=200bp C - downstream_gene_variant ESCA-CN 17 42273617 42273617 single base substitution A C downstream_gene_variant KIRC-US 17 42265113 42265113 single base substitution T C intron_variant KIRC-US 17 42265113 42265113 single base substitution T C splice_donor_variant KIRC-US 17 42265113 42265113 single base substitution T C upstream_gene_variant KIRC-US 17 42266658 42266658 single base substitution C A exon_variant KIRC-US 17 42266658 42266658 single base substitution C A intron_variant KIRC-US 17 42266658 42266658 single base substitution C A missense_variant P102T 304C>A KIRC-US 17 42266658 42266658 single base substitution C A missense_variant P82T 244C>A KIRC-US 17 42266658 42266658 single base substitution C A upstream_gene_variant KIRC-US 17 42266747 42266747 single base substitution G A intron_variant KIRC-US 17 42266747 42266747 single base substitution G A synonymous_variant E111E 333G>A KIRC-US 17 42266747 42266747 single base substitution G A synonymous_variant E131E 393G>A KIRC-US 17 42266747 42266747 single base substitution G A synonymous_variant E3E 9G>A LICA-FR 17 42260153 42260153 single base substitution C T upstream_gene_variant LICA-FR 17 42262569 42262569 single base substitution T C upstream_gene_variant LICA-FR 17 42266445 42266445 single base substitution G A exon_variant LICA-FR 17 42266445 42266445 single base substitution G A missense_variant G11S 31G>A LICA-FR 17 42266445 42266445 single base substitution G A missense_variant G31S 91G>A LICA-FR 17 42266445 42266445 single base substitution G A upstream_gene_variant LICA-FR 17 42268089 42268089 single base substitution G T 3_prime_UTR_variant LICA-FR 17 42268089 42268089 single base substitution G T downstream_gene_variant LICA-FR 17 42268089 42268089 single base substitution G T missense_variant V147L 439G>T LICA-FR 17 42268089 42268089 single base substitution G T missense_variant V218L 652G>T LICA-FR 17 42268089 42268089 single base substitution G T missense_variant V255L 763G>T LICA-FR 17 42268089 42268089 single base substitution G T missense_variant V275L 823G>T LIHC-US 17 42266396 42266396 single base substitution C T 5_prime_UTR_variant LIHC-US 17 42266396 42266396 single base substitution C T synonymous_variant D14D 42C>T LIHC-US 17 42266396 42266396 single base substitution C T upstream_gene_variant LIHC-US 17 42273177 42273177 single base substitution A T downstream_gene_variant LIHC-US 17 42273429 42273429 single base substitution T C downstream_gene_variant LINC-JP 17 42262020 42262020 single base substitution A T upstream_gene_variant LINC-JP 17 42270025 42270025 single base substitution A G downstream_gene_variant LINC-JP 17 42271481 42271481 single base substitution G A downstream_gene_variant LINC-JP 17 42272394 42272394 single base substitution G T downstream_gene_variant LIRI-JP 17 42259853 42259855 deletion of <=200bp AAC - upstream_gene_variant LIRI-JP 17 42262154 42262154 single base substitution C T upstream_gene_variant LIRI-JP 17 42262916 42262916 single base substitution T C upstream_gene_variant LIRI-JP 17 42263153 42263153 single base substitution T G upstream_gene_variant LIRI-JP 17 42264034 42264034 single base substitution G C upstream_gene_variant LIRI-JP 17 42265300 42265300 single base substitution C T 5_prime_UTR_variant LIRI-JP 17 42265300 42265300 single base substitution C T intron_variant LIRI-JP 17 42265300 42265300 single base substitution C T upstream_gene_variant LIRI-JP 17 42269409 42269409 single base substitution C T downstream_gene_variant LIRI-JP 17 42270539 42270551 deletion of <=200bp TTTTCCTCAGAGC - downstream_gene_variant LUSC-KR 17 42261441 42261441 single base substitution T A upstream_gene_variant LUSC-KR 17 42263954 42263954 single base substitution A G upstream_gene_variant LUSC-KR 17 42267949 42267949 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 42267949 42267949 single base substitution G A downstream_gene_variant LUSC-KR 17 42267949 42267949 single base substitution G A missense_variant R100H 299G>A LUSC-KR 17 42267949 42267949 single base substitution G A missense_variant R171H 512G>A LUSC-KR 17 42267949 42267949 single base substitution G A missense_variant R208H 623G>A LUSC-KR 17 42267949 42267949 single base substitution G A missense_variant R228H 683G>A LUSC-KR 17 42267949 42267949 single base substitution G A synonymous_variant A42A 126G>A LUSC-KR 17 42271830 42271830 single base substitution T G downstream_gene_variant LUSC-US 17 42271707 42271707 single base substitution C A downstream_gene_variant LUSC-US 17 42271946 42271946 single base substitution A G downstream_gene_variant LUSC-US 17 42272026 42272026 single base substitution C A downstream_gene_variant MALY-DE 17 42270631 42270631 single base substitution G A downstream_gene_variant MELA-AU 17 42260140 42260140 single base substitution G A upstream_gene_variant MELA-AU 17 42260458 42260458 single base substitution C T upstream_gene_variant MELA-AU 17 42260804 42260804 single base substitution G A upstream_gene_variant MELA-AU 17 42261105 42261105 single base substitution G A upstream_gene_variant MELA-AU 17 42261121 42261121 single base substitution T C upstream_gene_variant MELA-AU 17 42262031 42262031 single base substitution G A upstream_gene_variant MELA-AU 17 42262754 42262754 single base substitution G A upstream_gene_variant MELA-AU 17 42264054 42264069 deletion of <=200bp GCCCGGGCAACCTTCC - upstream_gene_variant MELA-AU 17 42264082 42264082 single base substitution C T upstream_gene_variant MELA-AU 17 42264122 42264122 single base substitution C T upstream_gene_variant MELA-AU 17 42264122 42264123 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 42264144 42264144 single base substitution G A upstream_gene_variant MELA-AU 17 42264155 42264155 single base substitution G A upstream_gene_variant MELA-AU 17 42264207 42264207 single base substitution C G upstream_gene_variant MELA-AU 17 42264223 42264223 single base substitution C T upstream_gene_variant MELA-AU 17 42264224 42264224 single base substitution C T upstream_gene_variant MELA-AU 17 42264326 42264326 single base substitution C T upstream_gene_variant MELA-AU 17 42264348 42264348 single base substitution C T 5_prime_UTR_variant MELA-AU 17 42264348 42264348 single base substitution C T upstream_gene_variant MELA-AU 17 42264349 42264349 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 42264349 42264349 single base substitution C T upstream_gene_variant MELA-AU 17 42264361 42264361 single base substitution G A 5_prime_UTR_variant MELA-AU 17 42264361 42264361 single base substitution G A upstream_gene_variant MELA-AU 17 42264364 42264364 single base substitution G A 5_prime_UTR_variant MELA-AU 17 42264364 42264364 single base substitution G A upstream_gene_variant MELA-AU 17 42264686 42264686 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 42264686 42264686 single base substitution C T intron_variant MELA-AU 17 42264686 42264686 single base substitution C T upstream_gene_variant MELA-AU 17 42265508 42265508 single base substitution G A intron_variant MELA-AU 17 42265508 42265508 single base substitution G A upstream_gene_variant MELA-AU 17 42266063 42266063 single base substitution C T intron_variant MELA-AU 17 42266063 42266063 single base substitution C T upstream_gene_variant MELA-AU 17 42266552 42266552 single base substitution C T exon_variant MELA-AU 17 42266552 42266552 single base substitution C T intron_variant MELA-AU 17 42266552 42266552 single base substitution C T synonymous_variant L46L 138C>T MELA-AU 17 42266552 42266552 single base substitution C T synonymous_variant L66L 198C>T MELA-AU 17 42266552 42266552 single base substitution C T upstream_gene_variant MELA-AU 17 42266651 42266651 single base substitution C T exon_variant MELA-AU 17 42266651 42266651 single base substitution C T intron_variant MELA-AU 17 42266651 42266651 single base substitution C T synonymous_variant L79L 237C>T MELA-AU 17 42266651 42266651 single base substitution C T synonymous_variant L99L 297C>T MELA-AU 17 42266651 42266651 single base substitution C T upstream_gene_variant MELA-AU 17 42266860 42266860 single base substitution C T 3_prime_UTR_variant MELA-AU 17 42266860 42266860 single base substitution C T intron_variant MELA-AU 17 42266860 42266860 single base substitution C T missense_variant P112L 335C>T MELA-AU 17 42266860 42266860 single base substitution C T missense_variant P149L 446C>T MELA-AU 17 42266860 42266860 single base substitution C T missense_variant P169L 506C>T MELA-AU 17 42266860 42266860 single base substitution C T missense_variant P41L 122C>T MELA-AU 17 42266961 42266961 single base substitution G A 3_prime_UTR_variant MELA-AU 17 42266961 42266961 single base substitution G A intron_variant MELA-AU 17 42266961 42266961 single base substitution G A splice_region_variant MELA-AU 17 42267398 42267398 single base substitution T C 3_prime_UTR_variant MELA-AU 17 42267398 42267398 single base substitution T C intron_variant MELA-AU 17 42267766 42267766 single base substitution C T downstream_gene_variant MELA-AU 17 42267766 42267766 single base substitution C T intron_variant MELA-AU 17 42269101 42269101 single base substitution C T downstream_gene_variant MELA-AU 17 42269155 42269155 single base substitution G A downstream_gene_variant MELA-AU 17 42269283 42269283 single base substitution A G downstream_gene_variant MELA-AU 17 42270771 42270771 single base substitution G A downstream_gene_variant MELA-AU 17 42270859 42270859 single base substitution G A downstream_gene_variant MELA-AU 17 42271662 42271663 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 42271757 42271757 single base substitution C T downstream_gene_variant MELA-AU 17 42272027 42272027 single base substitution G A downstream_gene_variant MELA-AU 17 42272300 42272300 single base substitution G A downstream_gene_variant MELA-AU 17 42272534 42272534 single base substitution G A downstream_gene_variant MELA-AU 17 42272630 42272630 single base substitution A G downstream_gene_variant MELA-AU 17 42272640 42272640 single base substitution G A downstream_gene_variant MELA-AU 17 42273480 42273480 single base substitution G A downstream_gene_variant MELA-AU 17 42273483 42273483 single base substitution T C downstream_gene_variant MELA-AU 17 42273896 42273896 single base substitution C T downstream_gene_variant ORCA-IN 17 42265762 42265762 single base substitution A T intron_variant ORCA-IN 17 42265762 42265762 single base substitution A T upstream_gene_variant ORCA-IN 17 42266876 42266876 single base substitution C A 3_prime_UTR_variant ORCA-IN 17 42266876 42266876 single base substitution C A intron_variant ORCA-IN 17 42266876 42266876 single base substitution C A synonymous_variant I117I 351C>A ORCA-IN 17 42266876 42266876 single base substitution C A synonymous_variant I154I 462C>A ORCA-IN 17 42266876 42266876 single base substitution C A synonymous_variant I174I 522C>A ORCA-IN 17 42266876 42266876 single base substitution C A synonymous_variant I46I 138C>A OV-AU 17 42261828 42261828 single base substitution C A upstream_gene_variant OV-AU 17 42264073 42264073 single base substitution G T upstream_gene_variant OV-AU 17 42266533 42266533 single base substitution A G exon_variant OV-AU 17 42266533 42266533 single base substitution A G intron_variant OV-AU 17 42266533 42266533 single base substitution A G missense_variant D40G 119A>G OV-AU 17 42266533 42266533 single base substitution A G missense_variant D60G 179A>G OV-AU 17 42266533 42266533 single base substitution A G upstream_gene_variant OV-AU 17 42271805 42271805 single base substitution G C downstream_gene_variant PACA-AU 17 42264108 42264108 single base substitution C T upstream_gene_variant PACA-AU 17 42267544 42267544 single base substitution C T 3_prime_UTR_variant PACA-AU 17 42267544 42267544 single base substitution C T intron_variant PACA-AU 17 42267546 42267546 single base substitution C T 3_prime_UTR_variant PACA-AU 17 42267546 42267546 single base substitution C T intron_variant PACA-CA 17 42261046 42261046 single base substitution G A upstream_gene_variant PACA-CA 17 42263484 42263484 single base substitution G A upstream_gene_variant PACA-CA 17 42266635 42266635 single base substitution C T exon_variant PACA-CA 17 42266635 42266635 single base substitution C T intron_variant PACA-CA 17 42266635 42266635 single base substitution C T missense_variant P74L 221C>T PACA-CA 17 42266635 42266635 single base substitution C T missense_variant P94L 281C>T PACA-CA 17 42266635 42266635 single base substitution C T upstream_gene_variant PACA-CA 17 42267304 42267304 single base substitution A G 3_prime_UTR_variant PACA-CA 17 42267304 42267304 single base substitution A G intron_variant PACA-CA 17 42268159 42268159 single base substitution C T 3_prime_UTR_variant PACA-CA 17 42268159 42268159 single base substitution C T downstream_gene_variant PACA-CA 17 42268159 42268159 single base substitution C T missense_variant A170V 509C>T PACA-CA 17 42268159 42268159 single base substitution C T missense_variant A241V 722C>T PACA-CA 17 42268159 42268159 single base substitution C T missense_variant A278V 833C>T PACA-CA 17 42268159 42268159 single base substitution C T missense_variant A298V 893C>T PACA-CA 17 42270696 42270696 single base substitution G A downstream_gene_variant PACA-CA 17 42273846 42273846 single base substitution C T downstream_gene_variant PRAD-CA 17 42264467 42264467 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant PRAD-CA 17 42264467 42264467 single base substitution G T upstream_gene_variant PRAD-UK 17 42269437 42269437 single base substitution C A downstream_gene_variant PRAD-UK 17 42269439 42269439 single base substitution A C downstream_gene_variant READ-US 17 42273437 42273437 single base substitution G A downstream_gene_variant RECA-EU 17 42269750 42269750 single base substitution C G downstream_gene_variant RECA-EU 17 42273138 42273138 single base substitution G A downstream_gene_variant SKCA-BR 17 42260460 42260460 single base substitution G A upstream_gene_variant SKCA-BR 17 42261061 42261061 single base substitution A G upstream_gene_variant SKCA-BR 17 42262495 42262495 single base substitution G A upstream_gene_variant SKCA-BR 17 42262778 42262780 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 17 42264065 42264065 single base substitution C T upstream_gene_variant SKCA-BR 17 42264124 42264124 single base substitution C T upstream_gene_variant SKCA-BR 17 42264377 42264377 single base substitution G T 5_prime_UTR_variant SKCA-BR 17 42264377 42264377 single base substitution G T upstream_gene_variant SKCA-BR 17 42265310 42265310 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 42265310 42265310 single base substitution G A intron_variant SKCA-BR 17 42265310 42265310 single base substitution G A upstream_gene_variant SKCA-BR 17 42269471 42269471 single base substitution G A downstream_gene_variant SKCA-BR 17 42271840 42271840 single base substitution A C downstream_gene_variant SKCA-BR 17 42273205 42273205 single base substitution G A downstream_gene_variant SKCA-BR 17 42273482 42273482 single base substitution G A downstream_gene_variant SKCM-US 17 42272039 42272039 single base substitution G A downstream_gene_variant SKCM-US 17 42273443 42273443 single base substitution G A downstream_gene_variant STAD-US 17 42266499 42266499 single base substitution T C exon_variant STAD-US 17 42266499 42266499 single base substitution T C intron_variant STAD-US 17 42266499 42266499 single base substitution T C synonymous_variant L29L 85T>C STAD-US 17 42266499 42266499 single base substitution T C synonymous_variant L49L 145T>C STAD-US 17 42266499 42266499 single base substitution T C upstream_gene_variant STAD-US 17 42266704 42266704 deletion of <=200bp G - frameshift_variant R117 STAD-US 17 42266704 42266704 deletion of <=200bp G - frameshift_variant R97 STAD-US 17 42266704 42266704 deletion of <=200bp G - intron_variant STAD-US 17 42266704 42266704 deletion of <=200bp G - upstream_gene_variant STAD-US 17 42267869 42267869 single base substitution C T downstream_gene_variant STAD-US 17 42267869 42267869 single base substitution C T missense_variant A85V 254C>T STAD-US 17 42267869 42267869 single base substitution C T splice_region_variant STAD-US 17 42267869 42267869 single base substitution C T stop_gained Q16* 46C>T STAD-US 17 42268059 42268059 single base substitution A T 3_prime_UTR_variant STAD-US 17 42268059 42268059 single base substitution A T downstream_gene_variant STAD-US 17 42268059 42268059 single base substitution A T missense_variant S137C 409A>T STAD-US 17 42268059 42268059 single base substitution A T missense_variant S208C 622A>T STAD-US 17 42268059 42268059 single base substitution A T missense_variant S245C 733A>T STAD-US 17 42268059 42268059 single base substitution A T missense_variant S265C 793A>T STAD-US 17 42271658 42271658 single base substitution C T downstream_gene_variant STAD-US 17 42271971 42271971 single base substitution C A downstream_gene_variant STAD-US 17 42272170 42272170 single base substitution G A downstream_gene_variant STAD-US 17 42272803 42272803 single base substitution C T downstream_gene_variant UCEC-US 17 42265281 42265281 single base substitution C A 5_prime_UTR_variant UCEC-US 17 42265281 42265281 single base substitution C A intron_variant UCEC-US 17 42265281 42265281 single base substitution C A upstream_gene_variant UCEC-US 17 42266286 42266288 deletion of <=200bp TTT - 5_prime_UTR_variant UCEC-US 17 42266286 42266288 deletion of <=200bp TTT - intron_variant UCEC-US 17 42266286 42266288 deletion of <=200bp TTT - upstream_gene_variant UCEC-US 17 42266286 42266289 deletion of <=200bp TTTT - 5_prime_UTR_variant UCEC-US 17 42266286 42266289 deletion of <=200bp TTTT - intron_variant UCEC-US 17 42266286 42266289 deletion of <=200bp TTTT - upstream_gene_variant UCEC-US 17 42266404 42266404 single base substitution G T 5_prime_UTR_variant UCEC-US 17 42266404 42266404 single base substitution G T missense_variant S17I 50G>T UCEC-US 17 42266404 42266404 single base substitution G T upstream_gene_variant UCEC-US 17 42266532 42266532 single base substitution G T exon_variant UCEC-US 17 42266532 42266532 single base substitution G T intron_variant UCEC-US 17 42266532 42266532 single base substitution G T missense_variant D40Y 118G>T UCEC-US 17 42266532 42266532 single base substitution G T missense_variant D60Y 178G>T UCEC-US 17 42266532 42266532 single base substitution G T upstream_gene_variant UCEC-US 17 42266576 42266576 single base substitution C T exon_variant UCEC-US 17 42266576 42266576 single base substitution C T intron_variant UCEC-US 17 42266576 42266576 single base substitution C T splice_region_variant UCEC-US 17 42266576 42266576 single base substitution C T synonymous_variant G54G 162C>T UCEC-US 17 42266576 42266576 single base substitution C T synonymous_variant G74G 222C>T UCEC-US 17 42266576 42266576 single base substitution C T upstream_gene_variant UCEC-US 17 42267919 42267919 single base substitution G A 3_prime_UTR_variant UCEC-US 17 42267919 42267919 single base substitution G A downstream_gene_variant UCEC-US 17 42267919 42267919 single base substitution G A missense_variant R161H 482G>A UCEC-US 17 42267919 42267919 single base substitution G A missense_variant R198H 593G>A UCEC-US 17 42267919 42267919 single base substitution G A missense_variant R218H 653G>A UCEC-US 17 42267919 42267919 single base substitution G A missense_variant R90H 269G>A UCEC-US 17 42267919 42267919 single base substitution G A synonymous_variant P32P 96G>A UCEC-US 17 42267965 42267965 single base substitution C T 3_prime_UTR_variant UCEC-US 17 42267965 42267965 single base substitution C T downstream_gene_variant UCEC-US 17 42267965 42267965 single base substitution C T stop_gained R48* 142C>T UCEC-US 17 42267965 42267965 single base substitution C T synonymous_variant T105T 315C>T UCEC-US 17 42267965 42267965 single base substitution C T synonymous_variant T176T 528C>T UCEC-US 17 42267965 42267965 single base substitution C T synonymous_variant T213T 639C>T UCEC-US 17 42267965 42267965 single base substitution C T synonymous_variant T233T 699C>T UCEC-US 17 42272138 42272138 single base substitution C T downstream_gene_variant UCEC-US 17 42272199 42272199 single base substitution C T downstream_gene_variant UCEC-US 17 42273175 42273175 single base substitution G T downstream_gene_variant UCEC-US 17 42273432 42273432 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_16 COSM5625791 c.19C>G p.Q7E Substitution - Missense 17:44187727-44187727 + HCT15 COSM3190745 c.298C>A p.P100T Substitution - Missense 17:44189284-44189284 + TCGA-BS-A0UF-01 COSM979897 c.118G>T p.D40Y Substitution - Missense 17:44189164-44189164 + TCGA-AP-A051-01 COSM979898 c.162C>T p.G54G Substitution - coding silent 17:44189208-44189208 + TCGA-AR-A0U1-01 COSM436693 c.16C>G p.L6V Substitution - Missense 17:44187724-44187724 + PTC-70C COSM4130134 c.894A>C p.A298A Substitution - coding silent 17:44190792-44190792 + CHEWS012 COSM4579749 c.662A>G p.Q221R Substitution - Missense 17:44190560-44190560 + SS6003111 COSM3980274 c.198C>G p.L66L Substitution - coding silent 17:44189184-44189184 + 587316 COSM1229848 c.901C>T p.R301* Substitution - Nonsense 17:44190859-44190859 + TCGA-D1-A17H-01 COSM979901 c.639C>T p.T213T Substitution - coding silent 17:44190597-44190597 + DLD1 COSM3190746 c.238C>A p.P80T Substitution - Missense 17:44189284-44189284 + TCGA-D1-A15X-01 COSM1588872 c.653G>A p.R218H Substitution - Missense 17:44190551-44190551 + TCGA-D1-A101-01 COSM1153070 c.246G>A p.G82G Substitution - coding silent 17:44189232-44189232 + PD7221a COSM5779082 c.164C>T p.S55F Substitution - Missense 17:44189150-44189150 + T3094 COSM4734822 c.614G>A p.R205H Substitution - Missense 17:44190572-44190572 + CHC892T COSM4796558 c.31G>A p.G11S Substitution - Missense 17:44189077-44189077 + SNU-175 COSM3190769 c.899C>T p.A300V Substitution - Missense 17:44190797-44190797 + T55 COSM4734820 c.526G>A p.V176M Substitution - Missense 17:44189572-44189572 + TCGA-DM-A28E-01 COSM1383619 c.656delA p.H219fs*76 Deletion - Frameshift 17:44190614-44190614 + TCGA-AP-A051-01 COSM1588873 c.222C>T p.G74G Substitution - coding silent 17:44189208-44189208 + SNU-175 COSM3190770 c.839C>T p.A280V Substitution - Missense 17:44190797-44190797 + CSCC-54-T COSM4480418 c.181C>A p.L61M Substitution - Missense 17:44189227-44189227 + 24T COSM3712329 c.522C>A p.I174I Substitution - coding silent 17:44189508-44189508 + C086 COSM5540582 c.584C>T p.T195I Substitution - Missense 17:44189570-44189570 + TCGA-B0-4691-01 COSM3362168 c.35+2T>C p.? Unknown 17:44187745-44187745 + CHC1148T COSM4954703 c.823G>T p.V275L Substitution - Missense 17:44190721-44190721 + T55 COSM4734819 c.586G>A p.V196M Substitution - Missense 17:44189572-44189572 + T3509 COSM4734824 c.857G>A p.G286E Substitution - Missense 17:44190815-44190815 + TCGA-FP-8211-01 COSM4066869 c.793A>T p.S265C Substitution - Missense 17:44190691-44190691 + Pat_76_A COSM5852642 c.464C>G p.P155R Substitution - Missense 17:44189450-44189450 + C086 COSM5540583 c.524C>T p.T175I Substitution - Missense 17:44189570-44189570 + NCI-H209 COSM41448 c.485A>G p.N162S Substitution - Missense 17:44189531-44189531 + S01542 COSM5669605 c.308A>G p.E103G Substitution - Missense 17:44189354-44189354 + TCGA-BS-A0UF-01 COSM1588874 c.178G>T p.D60Y Substitution - Missense 17:44189164-44189164 + KM12 COSM3190738 c.139C>T p.L47L Substitution - coding silent 17:44189185-44189185 + CRC-19T COSM5481380 c.757T>C p.S253P Substitution - Missense 17:44190655-44190655 + Pat_76_A COSM5852643 c.404C>G p.P135R Substitution - Missense 17:44189450-44189450 + TCGA-F4-6703-01 COSM1383616 c.431C>A p.P144H Substitution - Missense 17:44189417-44189417 + TCGA-D1-A17H-01 COSM1153071 c.699C>T p.T233T Substitution - coding silent 17:44190597-44190597 + sysucc-1163T COSM5458634 c.865G>A p.V289I Substitution - Missense 17:44190823-44190823 + OSCC-GB_00240111 COSM3712330 c.462C>A p.I154I Substitution - coding silent 17:44189508-44189508 + TCGA-D1-A101-01 COSM979899 c.186G>A p.G62G Substitution - coding silent 17:44189232-44189232 + CHC892T COSM4796558 c.31G>A p.G11S Substitution - Missense 17:44189077-44189077 + sysucc-1163T COSM5458633 c.925G>A p.V309I Substitution - Missense 17:44190823-44190823 + 07-P1079 COSM4579748 c.47delC p.S17fs*20 Deletion - Frameshift 17:44189033-44189033 + KM12 COSM3190737 c.199C>T p.L67L Substitution - coding silent 17:44189185-44189185 + ccRCC-94 COSM1664608 c.337G>T p.A113S Substitution - Missense 17:44189323-44189323 + PCSI_0547_Pa_P_526 COSM5031929 c.893C>T p.A298V Substitution - Missense 17:44190791-44190791 + TCGA-B0-4811-01 COSM1135941 c.304C>A p.P102T Substitution - Missense 17:44189290-44189290 + LIM1215 COSM4336144 c.710delC p.S239fs*56 Deletion - Frameshift 17:44190668-44190668 + CHEWS012 COSM4579750 c.602A>G p.Q201R Substitution - Missense 17:44190560-44190560 + TCGA-FP-8211-01 COSM4066870 c.733A>T p.S245C Substitution - Missense 17:44190691-44190691 + HCA7 COSM4630316 c.877C>T p.R293C Substitution - Missense 17:44190775-44190775 + TCGA-BR-4370-01 COSM4066868 c.543C>T p.S181S Substitution - coding silent 17:44190501-44190501 + CSCC-54-T COSM4480417 c.241C>A p.L81M Substitution - Missense 17:44189227-44189227 + TCGA-BR-4370-01 COSM4066867 c.603C>T p.S201S Substitution - coding silent 17:44190501-44190501 + OSCC-GB_00240111 COSM3712329 c.522C>A p.I174I Substitution - coding silent 17:44189508-44189508 + ccRCC-94 COSM1664609 c.277G>T p.A93S Substitution - Missense 17:44189323-44189323 + PTC-70C COSM4130135 c.834A>C p.A278A Substitution - coding silent 17:44190792-44190792 + S01542 COSM5669604 c.368A>G p.E123G Substitution - Missense 17:44189354-44189354 + TCGA-A6-5661-01 COSM979898 c.162C>T p.G54G Substitution - coding silent 17:44189208-44189208 + T3509 COSM4734823 c.917G>A p.G306E Substitution - Missense 17:44190815-44190815 + HCT8 COSM3190745 c.298C>A p.P100T Substitution - Missense 17:44189284-44189284 + TCGA-BP-4782-01 COSM1135942 c.393G>A p.E131E Substitution - coding silent 17:44189379-44189379 + SC_9047 COSM5555609 c.142G>T p.G48C Substitution - Missense 17:44189188-44189188 + TCGA-HU-A4H4-01 COSM4066865 c.145T>C p.L49L Substitution - coding silent 17:44189131-44189131 + PCSI_0079_Pa_P COSM3378212 c.221C>T p.P74L Substitution - Missense 17:44189267-44189267 + TCGA-AP-A051-01 COSM979900 c.593G>A p.R198H Substitution - Missense 17:44190551-44190551 + C086 COSM5540584 c.585C>T p.T195T Substitution - coding silent 17:44189571-44189571 + AOCS-116-1-3 COSM3983483 c.119A>G p.D40G Substitution - Missense 17:44189165-44189165 + HCA7 COSM4630317 c.817C>T p.R273C Substitution - Missense 17:44190775-44190775 + T3094 COSM4734821 c.674G>A p.R225H Substitution - Missense 17:44190572-44190572 + 24T COSM3712330 c.462C>A p.I154I Substitution - coding silent 17:44189508-44189508 + PD7221a COSM5779083 c.104C>T p.S35F Substitution - Missense 17:44189150-44189150 + PCSI_0547_Pa_P_526 COSM5031930 c.833C>T p.A278V Substitution - Missense 17:44190791-44190791 + CHC1148T COSM4954703 c.823G>T p.V275L Substitution - Missense 17:44190721-44190721 + 585260 COSM326705 c.28G>A p.E10K Substitution - Missense 17:44189074-44189074 + 587316 COSM1229847 c.961C>T p.R321* Substitution - Nonsense 17:44190859-44190859 + Pat_45_B COSM5852645 c.778G>A p.V260M Substitution - Missense 17:44190736-44190736 + TCGA-AP-A0LM-01 COSM1588875 c.50G>T p.S17I Substitution - Missense 17:44189036-44189036 + CHC1148T COSM4954704 c.763G>T p.V255L Substitution - Missense 17:44190721-44190721 + TCGA-B0-4811-01 COSM472876 c.244C>A p.P82T Substitution - Missense 17:44189290-44189290 + TCGA-D1-A15X-01 COSM979900 c.593G>A p.R198H Substitution - Missense 17:44190551-44190551 + CHC892T COSM4796557 c.91G>A p.G31S Substitution - Missense 17:44189077-44189077 + 1016 COSM5540584 c.585C>T p.T195T Substitution - coding silent 17:44189571-44189571 + DLD1 COSM3190745 c.298C>A p.P100T Substitution - Missense 17:44189284-44189284 + C086 COSM299009 c.525C>T p.T175T Substitution - coding silent 17:44189571-44189571 + TCGA-AP-A051-01 COSM1588872 c.653G>A p.R218H Substitution - Missense 17:44190551-44190551 + TCGA-BP-4782-01 COSM472877 c.333G>A p.E111E Substitution - coding silent 17:44189379-44189379 + PCSI_0079_Pa_P COSM3378211 c.281C>T p.P94L Substitution - Missense 17:44189267-44189267 + LIM1215 COSM4336143 c.770delC p.S259fs*56 Deletion - Frameshift 17:44190668-44190668 + CRC-19T COSM5481381 c.697T>C p.S233P Substitution - Missense 17:44190655-44190655 + 1016 COSM299009 c.525C>T p.T175T Substitution - coding silent 17:44189571-44189571 + TCGA-AA-A00U-01 COSM299009 c.525C>T p.T175T Substitution - coding silent 17:44189571-44189571 + HCT8 COSM3190746 c.238C>A p.P80T Substitution - Missense 17:44189284-44189284 + 35M COSM5582810 c.940C>T p.L314L Substitution - coding silent 17:44190838-44190838 + TCGA-UB-A7MD-01 COSM4932995 c.42C>T p.D14D Substitution - coding silent 17:44189028-44189028 + TCGA-Q1-A73O-01 COSM4835109 c.319G>A p.D107N Substitution - Missense 17:44189305-44189305 + CHC1148T COSM4954704 c.763G>T p.V255L Substitution - Missense 17:44190721-44190721 + SS6003111 COSM3980275 c.138C>G p.L46L Substitution - coding silent 17:44189184-44189184 + SC_9047 COSM5555608 c.202G>T p.G68C Substitution - Missense 17:44189188-44189188 + 35M COSM5582811 c.880C>T p.L294L Substitution - coding silent 17:44190838-44190838 + TCGA-Q1-A73O-01 COSM4835110 c.259G>A p.D87N Substitution - Missense 17:44189305-44189305 + CHC892T COSM4796557 c.91G>A p.G31S Substitution - Missense 17:44189077-44189077 + TCGA-F4-6703-01 COSM1383617 c.371C>A p.P124H Substitution - Missense 17:44189417-44189417 + TCGA-DM-A28E-01 COSM1383618 c.716delA p.H239fs*76 Deletion - Frameshift 17:44190614-44190614 + TCGA-HU-A4H4-01 COSM4066866 c.85T>C p.L29L Substitution - coding silent 17:44189131-44189131 + AOCS-116-1-3 COSM3983482 c.179A>G p.D60G Substitution - Missense 17:44189165-44189165 + Pat_45_B COSM5852644 c.838G>A p.V280M Substitution - Missense 17:44190736-44190736 + HCT15 COSM3190746 c.238C>A p.P80T Substitution - Missense 17:44189284-44189284 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.181391 17q21.31 2488749|CGAP|BC063489|A/G|non-coding||1548|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.P102T c.304C>A 17 42266658 RCCC C A Missense p.P168H c.503C>A 17 42266857 STAD C G Missense p.L6V c.16C>G 17 42265092 BRCA C T Missense p.A113V c.338C>T 17 42266692 HNSC C T Missense p.A198V c.593C>T 17 42266947 CM C T Synonymous p.S201S c.603C>T 17 42267869 STAD C T Synonymous p.T195T c.585C>T 17 42266939 COREAD C T Synonymous p.T233T c.699C>T 17 42267965 UCEC G A 3-UTRSNV . c.963+94G>A 17 42268323 CM G A Missense p.E30K c.88G>A 17 42266442 SCLC G A Missense p.G129D c.386G>A 17 42266740 CM G A Synonymous p.E131E c.393G>A 17 42266747 RCCC T C SpliceDonorSNV . c.35+2T>C 17 42265113 RCCC