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 ACC 17 73888574 73888574 + Missense_Mutation SNP G G T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr17:73888574G>T c.518C>A c.(517-519)gCc>gAc p.A173D BLCA 17 73887139 73887139 + Silent SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr17:73887139G>C c.1275C>G c.(1273-1275)ctC>ctG p.L425L BLCA 17 73887167 73887167 + Missense_Mutation SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 g.chr17:73887167A>G c.1247T>C c.(1246-1248)aTt>aCt p.I416T BLCA 17 73888485 73888485 + Missense_Mutation SNP C C T TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr17:73888485C>T c.607G>A c.(607-609)Gag>Aag p.E203K BLCA 17 73892977 73892977 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr17:73892977G>A c.42C>T c.(40-42)atC>atT p.I14I BRCA 17 73888451 73888451 + Missense_Mutation SNP C C T TCGA-AC-A2B8-01A-11D-A17D-09 TCGA-AC-A2B8-10A-01D-A17D-09 g.chr17:73888451C>T c.641G>A c.(640-642)cGa>cAa p.R214Q BRCA 17 73888871 73888871 + Missense_Mutation SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr17:73888871G>C c.475C>G c.(475-477)Cta>Gta p.L159V CESC 17 73887309 73887309 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:73887309C>G c.1105G>C c.(1105-1107)Gag>Cag p.E369Q COAD 17 73886938 73886938 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:73886938G>A c.1476C>T c.(1474-1476)ctC>ctT p.L492L COAD 17 73887106 73887106 + Missense_Mutation SNP G G T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr17:73887106G>T c.1308C>A c.(1306-1308)caC>caA p.H436Q COAD 17 73887374 73887374 + Missense_Mutation SNP G G A TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr17:73887374G>A c.1040C>T c.(1039-1041)tCg>tTg p.S347L COADREAD 17 73886938 73886938 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:73886938G>A c.1476C>T c.(1474-1476)ctC>ctT p.L492L COADREAD 17 73887106 73887106 + Missense_Mutation SNP G G T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr17:73887106G>T c.1308C>A c.(1306-1308)caC>caA p.H436Q COADREAD 17 73887374 73887374 + Missense_Mutation SNP G G A TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr17:73887374G>A c.1040C>T c.(1039-1041)tCg>tTg p.S347L DLBC 17 73887089 73887089 + Missense_Mutation SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr17:73887089C>T c.1325G>A c.(1324-1326)cGc>cAc p.R442H ESCA 17 73886925 73886925 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:73886925G>T c.1489C>A c.(1489-1491)Ctg>Atg p.L497M ESCA 17 73887368 73887369 + In_Frame_Ins INS - - GGC TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr17:73887368_73887369insGGC c.1045_1046insGCC c.(1045-1047)cag>cGCCag p.348_349insR GBM 17 73887344 73887344 + Missense_Mutation SNP C C T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr17:73887344C>T c.1070G>A c.(1069-1071)cGt>cAt p.R357H GBMLGG 17 73887344 73887344 + Missense_Mutation SNP C C T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr17:73887344C>T c.1070G>A c.(1069-1071)cGt>cAt p.R357H GBMLGG 17 73892940 73892940 + Frame_Shift_Del DEL A A - TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr17:73892940delA c.79delT c.(79-81)tgcfs p.C27fs HNSC 17 73887344 73887344 + Missense_Mutation SNP C C T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr17:73887344C>T c.1070G>A c.(1069-1071)cGt>cAt p.R357H HNSC 17 73887415 73887415 + Silent SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr17:73887415C>T c.999G>A c.(997-999)ctG>ctA p.L333L HNSC 17 73888194 73888194 + Frame_Shift_Del DEL G G - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr17:73888194delG c.817delC c.(817-819)ctgfs p.L273fs KIPAN 17 73887171 73887171 + Missense_Mutation SNP T T A TCGA-SX-A71V-01A-11D-A33Q-10 TCGA-SX-A71V-10A-01D-A33Q-10 g.chr17:73887171T>A c.1243A>T c.(1243-1245)Aac>Tac p.N415Y KIPAN 17 73887900 73887901 + Frame_Shift_Del DEL AG AG - TCGA-SX-A7SL-01A-11D-A34Z-10 TCGA-SX-A7SL-10A-01D-A34Z-10 g.chr17:73887900_73887901delAG c.978_979delCT c.(976-981)ctctggfs p.W327fs KIPAN 17 73888859 73888859 + Missense_Mutation SNP G G A TCGA-BP-4960-01A-01D-1462-08 TCGA-BP-4960-11A-01D-1462-08 g.chr17:73888859G>A c.487C>T c.(487-489)Cgc>Tgc p.R163C KIRC 17 73888859 73888859 + Missense_Mutation SNP G G A TCGA-BP-4960-01A-01D-1462-08 TCGA-BP-4960-11A-01D-1462-08 g.chr17:73888859G>A c.487C>T c.(487-489)Cgc>Tgc p.R163C KIRP 17 73887171 73887171 + Missense_Mutation SNP T T A TCGA-SX-A71V-01A-11D-A33Q-10 TCGA-SX-A71V-10A-01D-A33Q-10 g.chr17:73887171T>A c.1243A>T c.(1243-1245)Aac>Tac p.N415Y KIRP 17 73887900 73887901 + Frame_Shift_Del DEL AG AG - TCGA-SX-A7SL-01A-11D-A34Z-10 TCGA-SX-A7SL-10A-01D-A34Z-10 g.chr17:73887900_73887901delAG c.978_979delCT c.(976-981)ctctggfs p.W327fs LGG 17 73892940 73892940 + Frame_Shift_Del DEL A A - TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr17:73892940delA c.79delT c.(79-81)tgcfs p.C27fs LIHC 17 73887372 73887372 + Missense_Mutation SNP G G A TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:73887372G>A c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C LIHC 17 73888160 73888160 + Missense_Mutation SNP C C T TCGA-CC-A9FS-01A-11D-A36X-10 TCGA-CC-A9FS-10A-01D-A370-10 g.chr17:73888160C>T c.851G>A c.(850-852)tGt>tAt p.C284Y LIHC 17 73892831 73892831 + Missense_Mutation SNP T T G TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr17:73892831T>G c.188A>C c.(187-189)aAc>aCc p.N63T LUAD 17 73887174 73887174 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr17:73887174C>A c.1240G>T c.(1240-1242)Gac>Tac p.D414Y LUAD 17 73887248 73887248 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 g.chr17:73887248C>A c.1166G>T c.(1165-1167)cGc>cTc p.R389L LUAD 17 73887249 73887249 + Missense_Mutation SNP G G A TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr17:73887249G>A c.1165C>T c.(1165-1167)Cgc>Tgc p.R389C LUSC 17 73888574 73888574 + Missense_Mutation SNP G G T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr17:73888574G>T c.518C>A c.(517-519)gCc>gAc p.A173D OV 17 73887034 73887034 + Frame_Shift_Del DEL G G - TCGA-04-1337-01A-01W-0484-10 TCGA-04-1337-11A-01W-0485-10 g.chr17:73887034delG c.1380delC c.(1378-1380)ggcfs p.G460fs PAAD 17 73888881 73888881 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:73888881G>A c.465C>T c.(463-465)gcC>gcT p.A155A PRAD 17 73887232 73887232 + Silent SNP C C T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 g.chr17:73887232C>T c.1182G>A c.(1180-1182)tcG>tcA p.S394S SKCM 17 73887084 73887084 + Missense_Mutation SNP G G A TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr17:73887084G>A c.1330C>T c.(1330-1332)Cca>Tca p.P444S SKCM 17 73887135 73887135 + Missense_Mutation SNP C C G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr17:73887135C>G c.1279G>C c.(1279-1281)Gtc>Ctc p.V427L SKCM 17 73887210 73887210 + Missense_Mutation SNP G G A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr17:73887210G>A c.1204C>T c.(1204-1206)Ccg>Tcg p.P402S SKCM 17 73887946 73887946 + Silent SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr17:73887946G>A c.933C>T c.(931-933)ccC>ccT p.P311P SKCM 17 73887947 73887947 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr17:73887947G>A c.932C>T c.(931-933)cCc>cTc p.P311L SKCM 17 73888441 73888443 + In_Frame_Del DEL CTC CTC - TCGA-EE-A2MH-06A-11D-A197-08 TCGA-EE-A2MH-10A-01D-A199-08 g.chr17:73888441_73888443delCTC c.649_651delGAG c.(649-651)gagdel p.E217del SKCM 17 73888544 73888544 + Missense_Mutation SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr17:73888544T>C c.548A>G c.(547-549)aAg>aGg p.K183R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 73872363 73872363 single base substitution C T downstream_gene_variant BLCA-US 17 73887139 73887139 single base substitution G C downstream_gene_variant BLCA-US 17 73887139 73887139 single base substitution G C intron_variant BLCA-US 17 73887139 73887139 single base substitution G C synonymous_variant L276L 828C>G BLCA-US 17 73887139 73887139 single base substitution G C synonymous_variant L425L 1275C>G BLCA-US 17 73892977 73892977 single base substitution G A synonymous_variant I14I 42C>T BLCA-US 17 73892977 73892977 single base substitution G A synonymous_variant I5I 15C>T BLCA-US 17 73892977 73892977 single base substitution G A upstream_gene_variant BLCA-US 17 73895341 73895341 single base substitution C G upstream_gene_variant BRCA-EU 17 73871698 73871701 deletion of <=200bp CACA - downstream_gene_variant BRCA-EU 17 73874484 73874484 single base substitution C G downstream_gene_variant BRCA-EU 17 73875289 73875289 single base substitution G A downstream_gene_variant BRCA-EU 17 73876047 73876047 single base substitution C G downstream_gene_variant BRCA-EU 17 73876933 73876933 deletion of <=200bp G - intron_variant BRCA-EU 17 73878243 73878243 single base substitution A G intron_variant BRCA-EU 17 73878355 73878355 single base substitution C G intron_variant BRCA-EU 17 73878523 73878523 single base substitution C G intron_variant BRCA-EU 17 73879071 73879071 single base substitution A C intron_variant BRCA-EU 17 73879702 73879702 single base substitution G C intron_variant BRCA-EU 17 73879870 73879870 single base substitution A T intron_variant BRCA-EU 17 73880005 73880005 single base substitution G A intron_variant BRCA-EU 17 73880007 73880007 single base substitution C A intron_variant BRCA-EU 17 73880336 73880336 single base substitution C G downstream_gene_variant BRCA-EU 17 73880336 73880336 single base substitution C G intron_variant BRCA-EU 17 73880356 73880356 single base substitution T C downstream_gene_variant BRCA-EU 17 73880356 73880356 single base substitution T C intron_variant BRCA-EU 17 73880834 73880834 single base substitution G A downstream_gene_variant BRCA-EU 17 73880834 73880834 single base substitution G A intron_variant BRCA-EU 17 73882805 73882805 single base substitution G A downstream_gene_variant BRCA-EU 17 73882805 73882805 single base substitution G A intron_variant BRCA-EU 17 73885708 73885708 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 73885708 73885708 single base substitution C A downstream_gene_variant BRCA-EU 17 73885708 73885708 single base substitution C A intron_variant BRCA-EU 17 73889127 73889127 single base substitution C T intron_variant BRCA-EU 17 73889127 73889127 single base substitution C T upstream_gene_variant BRCA-EU 17 73889248 73889248 single base substitution C T intron_variant BRCA-EU 17 73889248 73889248 single base substitution C T upstream_gene_variant BRCA-EU 17 73889272 73889272 single base substitution C T intron_variant BRCA-EU 17 73889272 73889272 single base substitution C T upstream_gene_variant BRCA-EU 17 73889299 73889299 single base substitution C T intron_variant BRCA-EU 17 73889299 73889299 single base substitution C T upstream_gene_variant BRCA-EU 17 73889785 73889785 single base substitution C T intron_variant BRCA-EU 17 73889785 73889785 single base substitution C T upstream_gene_variant BRCA-EU 17 73889834 73889834 single base substitution G A intron_variant BRCA-EU 17 73889834 73889834 single base substitution G A upstream_gene_variant BRCA-EU 17 73891230 73891230 single base substitution C T intron_variant BRCA-EU 17 73891230 73891230 single base substitution C T upstream_gene_variant BRCA-EU 17 73891515 73891515 single base substitution C T intron_variant BRCA-EU 17 73891515 73891515 single base substitution C T upstream_gene_variant BRCA-EU 17 73892152 73892152 single base substitution T C intron_variant BRCA-EU 17 73892152 73892152 single base substitution T C upstream_gene_variant BRCA-EU 17 73892368 73892368 single base substitution C G intron_variant BRCA-EU 17 73892368 73892368 single base substitution C G upstream_gene_variant BRCA-EU 17 73892589 73892589 single base substitution C A intron_variant BRCA-EU 17 73892589 73892589 single base substitution C A upstream_gene_variant BRCA-EU 17 73892989 73892989 single base substitution C A start_lost L1L 3G>T BRCA-EU 17 73892989 73892989 single base substitution C A synonymous_variant L10L 30G>T BRCA-EU 17 73892989 73892989 single base substitution C A upstream_gene_variant BRCA-EU 17 73893355 73893355 single base substitution C T upstream_gene_variant BRCA-EU 17 73893604 73893604 single base substitution G A upstream_gene_variant BRCA-EU 17 73893622 73893622 single base substitution C T upstream_gene_variant BRCA-EU 17 73894264 73894264 single base substitution C A upstream_gene_variant BRCA-EU 17 73895189 73895189 single base substitution G A upstream_gene_variant BRCA-EU 17 73895391 73895391 single base substitution G C upstream_gene_variant BRCA-EU 17 73895623 73895623 single base substitution G A upstream_gene_variant BRCA-EU 17 73897021 73897021 single base substitution C T upstream_gene_variant BRCA-FR 17 73874484 73874484 single base substitution C G downstream_gene_variant BRCA-FR 17 73878355 73878355 single base substitution C G intron_variant BRCA-FR 17 73880005 73880005 single base substitution G A intron_variant BRCA-FR 17 73885708 73885708 single base substitution C A 3_prime_UTR_variant BRCA-FR 17 73885708 73885708 single base substitution C A downstream_gene_variant BRCA-FR 17 73885708 73885708 single base substitution C A intron_variant BRCA-FR 17 73889127 73889127 single base substitution C T intron_variant BRCA-FR 17 73889127 73889127 single base substitution C T upstream_gene_variant BRCA-FR 17 73889248 73889248 single base substitution C T intron_variant BRCA-FR 17 73889248 73889248 single base substitution C T upstream_gene_variant BRCA-FR 17 73889272 73889272 single base substitution C T intron_variant BRCA-FR 17 73889272 73889272 single base substitution C T upstream_gene_variant BRCA-FR 17 73889299 73889299 single base substitution C T intron_variant BRCA-FR 17 73889299 73889299 single base substitution C T upstream_gene_variant BRCA-FR 17 73895391 73895391 single base substitution G C upstream_gene_variant BRCA-FR 17 73895623 73895623 single base substitution G A upstream_gene_variant BRCA-FR 17 73897021 73897021 single base substitution C T upstream_gene_variant BRCA-UK 17 73871525 73871525 single base substitution G C downstream_gene_variant BRCA-UK 17 73872156 73872156 single base substitution G T downstream_gene_variant BRCA-UK 17 73874968 73874968 single base substitution C T downstream_gene_variant BRCA-US 17 73872004 73872004 single base substitution C T downstream_gene_variant BRCA-US 17 73872166 73872166 single base substitution T G downstream_gene_variant BRCA-US 17 73872388 73872388 single base substitution C G downstream_gene_variant BRCA-US 17 73888451 73888451 single base substitution C T downstream_gene_variant BRCA-US 17 73888451 73888451 single base substitution C T missense_variant R205Q 614G>A BRCA-US 17 73888451 73888451 single base substitution C T missense_variant R214Q 641G>A BRCA-US 17 73888451 73888451 single base substitution C T missense_variant R87Q 260G>A BRCA-US 17 73888451 73888451 single base substitution C T upstream_gene_variant BRCA-US 17 73888871 73888871 single base substitution G C exon_variant BRCA-US 17 73888871 73888871 single base substitution G C missense_variant L150V 448C>G BRCA-US 17 73888871 73888871 single base substitution G C missense_variant L159V 475C>G BRCA-US 17 73888871 73888871 single base substitution G C missense_variant L32V 94C>G BRCA-US 17 73888871 73888871 single base substitution G C upstream_gene_variant BRCA-US 17 73895240 73895240 single base substitution C T upstream_gene_variant BRCA-US 17 73897305 73897305 single base substitution C T upstream_gene_variant BTCA-JP 17 73871911 73871911 single base substitution G A downstream_gene_variant BTCA-JP 17 73874587 73874587 single base substitution G A downstream_gene_variant BTCA-JP 17 73887249 73887249 single base substitution G A downstream_gene_variant BTCA-JP 17 73887249 73887249 single base substitution G A intron_variant BTCA-JP 17 73887249 73887249 single base substitution G A missense_variant R240C 718C>T BTCA-JP 17 73887249 73887249 single base substitution G A missense_variant R389C 1165C>T BTCA-JP 17 73887828 73887828 single base substitution A T downstream_gene_variant BTCA-JP 17 73887828 73887828 single base substitution A T intron_variant BTCA-JP 17 73888987 73888987 single base substitution G A intron_variant BTCA-JP 17 73888987 73888987 single base substitution G A upstream_gene_variant BTCA-JP 17 73894804 73894804 single base substitution G A upstream_gene_variant BTCA-JP 17 73895735 73895735 single base substitution C T upstream_gene_variant BTCA-JP 17 73898037 73898037 deletion of <=200bp G - upstream_gene_variant CESC-US 17 73871532 73871532 single base substitution C G downstream_gene_variant CESC-US 17 73887309 73887309 single base substitution C G 3_prime_UTR_variant CESC-US 17 73887309 73887309 single base substitution C G downstream_gene_variant CESC-US 17 73887309 73887309 single base substitution C G intron_variant CESC-US 17 73887309 73887309 single base substitution C G missense_variant E220Q 658G>C CESC-US 17 73887309 73887309 single base substitution C G missense_variant E369Q 1105G>C CLLE-ES 17 73893940 73893940 single base substitution C T upstream_gene_variant COAD-US 17 73886888 73886888 single base substitution A G downstream_gene_variant COAD-US 17 73886888 73886888 single base substitution A G intron_variant COAD-US 17 73886888 73886888 single base substitution A G missense_variant L509P 1526T>C COAD-US 17 73886938 73886938 single base substitution G A downstream_gene_variant COAD-US 17 73886938 73886938 single base substitution G A intron_variant COAD-US 17 73886938 73886938 single base substitution G A synonymous_variant L492L 1476C>T COAD-US 17 73887106 73887106 single base substitution G T downstream_gene_variant COAD-US 17 73887106 73887106 single base substitution G T intron_variant COAD-US 17 73887106 73887106 single base substitution G T missense_variant H287Q 861C>A COAD-US 17 73887106 73887106 single base substitution G T missense_variant H436Q 1308C>A COAD-US 17 73887374 73887374 single base substitution G A 3_prime_UTR_variant COAD-US 17 73887374 73887374 single base substitution G A downstream_gene_variant COAD-US 17 73887374 73887374 single base substitution G A missense_variant S111L 332C>T COAD-US 17 73887374 73887374 single base substitution G A missense_variant S198L 593C>T COAD-US 17 73887374 73887374 single base substitution G A missense_variant S347L 1040C>T COAD-US 17 73887374 73887374 single base substitution G A missense_variant S65L 194C>T COAD-US 17 73888423 73888423 single base substitution A G downstream_gene_variant COAD-US 17 73888423 73888423 single base substitution A G synonymous_variant H214H 642T>C COAD-US 17 73888423 73888423 single base substitution A G synonymous_variant H223H 669T>C COAD-US 17 73888423 73888423 single base substitution A G synonymous_variant H96H 288T>C COAD-US 17 73888423 73888423 single base substitution A G upstream_gene_variant COAD-US 17 73888427 73888427 single base substitution A C downstream_gene_variant COAD-US 17 73888427 73888427 single base substitution A C missense_variant V213G 638T>G COAD-US 17 73888427 73888427 single base substitution A C missense_variant V222G 665T>G COAD-US 17 73888427 73888427 single base substitution A C missense_variant V95G 284T>G COAD-US 17 73888427 73888427 single base substitution A C upstream_gene_variant COAD-US 17 73888534 73888534 single base substitution G A downstream_gene_variant COAD-US 17 73888534 73888534 single base substitution G A synonymous_variant S177S 531C>T COAD-US 17 73888534 73888534 single base substitution G A synonymous_variant S186S 558C>T COAD-US 17 73888534 73888534 single base substitution G A synonymous_variant S59S 177C>T COAD-US 17 73888534 73888534 single base substitution G A upstream_gene_variant COAD-US 17 73895694 73895694 insertion of <=200bp - G upstream_gene_variant COAD-US 17 73895735 73895735 single base substitution C T upstream_gene_variant COAD-US 17 73897919 73897919 single base substitution G A upstream_gene_variant COCA-CN 17 73887246 73887246 single base substitution C T downstream_gene_variant COCA-CN 17 73887246 73887246 single base substitution C T intron_variant COCA-CN 17 73887246 73887246 single base substitution C T missense_variant A241T 721G>A COCA-CN 17 73887246 73887246 single base substitution C T missense_variant A390T 1168G>A COCA-CN 17 73887249 73887249 single base substitution G A downstream_gene_variant COCA-CN 17 73887249 73887249 single base substitution G A intron_variant COCA-CN 17 73887249 73887249 single base substitution G A missense_variant R240C 718C>T COCA-CN 17 73887249 73887249 single base substitution G A missense_variant R389C 1165C>T COCA-CN 17 73887249 73887249 single base substitution G T downstream_gene_variant COCA-CN 17 73887249 73887249 single base substitution G T intron_variant COCA-CN 17 73887249 73887249 single base substitution G T missense_variant R240S 718C>A COCA-CN 17 73887249 73887249 single base substitution G T missense_variant R389S 1165C>A COCA-CN 17 73888117 73888117 single base substitution G T downstream_gene_variant COCA-CN 17 73888117 73888117 single base substitution G T intron_variant COCA-CN 17 73888117 73888117 single base substitution G T synonymous_variant A171A 513C>A COCA-CN 17 73888117 73888117 single base substitution G T synonymous_variant A298A 894C>A COCA-CN 17 73888117 73888117 single base substitution G T synonymous_variant A38A 114C>A COCA-CN 17 73888117 73888117 single base substitution G T synonymous_variant A62A 186C>A COCA-CN 17 73888298 73888298 single base substitution C T downstream_gene_variant COCA-CN 17 73888298 73888298 single base substitution C T intron_variant COCA-CN 17 73888298 73888298 single base substitution C T upstream_gene_variant COCA-CN 17 73888991 73888991 single base substitution T C intron_variant COCA-CN 17 73888991 73888991 single base substitution T C upstream_gene_variant COCA-CN 17 73894804 73894804 single base substitution G A upstream_gene_variant COCA-CN 17 73897022 73897022 single base substitution G A upstream_gene_variant COCA-CN 17 73897135 73897135 single base substitution C T upstream_gene_variant ESAD-UK 17 73872592 73872592 single base substitution G A downstream_gene_variant ESAD-UK 17 73874949 73874949 single base substitution G A downstream_gene_variant ESAD-UK 17 73876754 73876754 single base substitution G A intron_variant ESAD-UK 17 73876806 73876806 single base substitution G A intron_variant ESAD-UK 17 73878476 73878476 single base substitution G A intron_variant ESAD-UK 17 73878664 73878664 single base substitution G T intron_variant ESAD-UK 17 73879662 73879662 single base substitution G A intron_variant ESAD-UK 17 73883838 73883838 single base substitution C G downstream_gene_variant ESAD-UK 17 73883838 73883838 single base substitution C G intron_variant ESAD-UK 17 73884243 73884243 single base substitution T C downstream_gene_variant ESAD-UK 17 73884243 73884243 single base substitution T C intron_variant ESAD-UK 17 73884638 73884638 single base substitution C G downstream_gene_variant ESAD-UK 17 73884638 73884638 single base substitution C G intron_variant ESAD-UK 17 73884966 73884966 single base substitution G T downstream_gene_variant ESAD-UK 17 73884966 73884966 single base substitution G T intron_variant ESAD-UK 17 73885303 73885303 single base substitution A T 3_prime_UTR_variant ESAD-UK 17 73885303 73885303 single base substitution A T downstream_gene_variant ESAD-UK 17 73885303 73885303 single base substitution A T intron_variant ESAD-UK 17 73886885 73886885 single base substitution C T downstream_gene_variant ESAD-UK 17 73886885 73886885 single base substitution C T intron_variant ESAD-UK 17 73886885 73886885 single base substitution C T missense_variant G510E 1529G>A ESAD-UK 17 73888029 73888029 deletion of <=200bp C - downstream_gene_variant ESAD-UK 17 73888029 73888029 deletion of <=200bp C - intron_variant ESAD-UK 17 73889537 73889537 single base substitution C T intron_variant ESAD-UK 17 73889537 73889537 single base substitution C T upstream_gene_variant ESAD-UK 17 73893209 73893209 single base substitution C T upstream_gene_variant ESAD-UK 17 73897302 73897302 single base substitution G A upstream_gene_variant GBM-US 17 73887344 73887344 single base substitution C T 3_prime_UTR_variant GBM-US 17 73887344 73887344 single base substitution C T downstream_gene_variant GBM-US 17 73887344 73887344 single base substitution C T intron_variant GBM-US 17 73887344 73887344 single base substitution C T missense_variant R208H 623G>A GBM-US 17 73887344 73887344 single base substitution C T missense_variant R357H 1070G>A KIRC-US 17 73888859 73888859 single base substitution G A exon_variant KIRC-US 17 73888859 73888859 single base substitution G A missense_variant R154C 460C>T KIRC-US 17 73888859 73888859 single base substitution G A missense_variant R163C 487C>T KIRC-US 17 73888859 73888859 single base substitution G A missense_variant R36C 106C>T KIRC-US 17 73888859 73888859 single base substitution G A upstream_gene_variant KIRP-US 17 73872839 73872839 single base substitution G A downstream_gene_variant LAML-KR 17 73879951 73879951 single base substitution A C intron_variant LAML-KR 17 73897046 73897046 single base substitution A G upstream_gene_variant LICA-CN 17 73892643 73892643 single base substitution C A exon_variant LICA-CN 17 73892643 73892643 single base substitution C A stop_gained E117* 349G>T LICA-CN 17 73892643 73892643 single base substitution C A stop_gained E126* 376G>T LICA-CN 17 73892643 73892643 single base substitution C A upstream_gene_variant LICA-FR 17 73886886 73886886 single base substitution C T downstream_gene_variant LICA-FR 17 73886886 73886886 single base substitution C T intron_variant LICA-FR 17 73886886 73886886 single base substitution C T missense_variant G510R 1528G>A LICA-FR 17 73894964 73894964 single base substitution C T upstream_gene_variant LICA-FR 17 73895628 73895628 single base substitution C A upstream_gene_variant LICA-FR 17 73895743 73895743 single base substitution C A upstream_gene_variant LICA-FR 17 73897261 73897261 single base substitution T C upstream_gene_variant LIHC-US 17 73887372 73887372 single base substitution G A 3_prime_UTR_variant LIHC-US 17 73887372 73887372 single base substitution G A downstream_gene_variant LIHC-US 17 73887372 73887372 single base substitution G A missense_variant R112C 334C>T LIHC-US 17 73887372 73887372 single base substitution G A missense_variant R199C 595C>T LIHC-US 17 73887372 73887372 single base substitution G A missense_variant R348C 1042C>T LIHC-US 17 73887372 73887372 single base substitution G A missense_variant R66C 196C>T LINC-JP 17 73871958 73871958 single base substitution G A downstream_gene_variant LINC-JP 17 73874303 73874303 single base substitution C T downstream_gene_variant LINC-JP 17 73894190 73894190 single base substitution C T upstream_gene_variant LINC-JP 17 73894716 73894716 single base substitution G A upstream_gene_variant LINC-JP 17 73894717 73894717 single base substitution C A upstream_gene_variant LINC-JP 17 73897236 73897236 single base substitution T C upstream_gene_variant LIRI-JP 17 73872353 73872356 deletion of <=200bp CTGA - downstream_gene_variant LIRI-JP 17 73875520 73875520 single base substitution C T downstream_gene_variant LIRI-JP 17 73875643 73875643 single base substitution G A downstream_gene_variant LIRI-JP 17 73877033 73877033 single base substitution A C intron_variant LIRI-JP 17 73877035 73877035 single base substitution A G intron_variant LIRI-JP 17 73879027 73879027 single base substitution C G intron_variant LIRI-JP 17 73884190 73884190 single base substitution T C downstream_gene_variant LIRI-JP 17 73884190 73884190 single base substitution T C intron_variant LIRI-JP 17 73884491 73884491 single base substitution G A downstream_gene_variant LIRI-JP 17 73884491 73884491 single base substitution G A intron_variant LIRI-JP 17 73886263 73886263 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 73886263 73886263 single base substitution T C downstream_gene_variant LIRI-JP 17 73886263 73886263 single base substitution T C intron_variant LIRI-JP 17 73889616 73889616 single base substitution G A intron_variant LIRI-JP 17 73889616 73889616 single base substitution G A upstream_gene_variant LIRI-JP 17 73891371 73891371 single base substitution C T intron_variant LIRI-JP 17 73891371 73891371 single base substitution C T upstream_gene_variant LUSC-KR 17 73872948 73872948 single base substitution A G downstream_gene_variant LUSC-KR 17 73875466 73875466 single base substitution G C downstream_gene_variant LUSC-KR 17 73880007 73880007 single base substitution C T intron_variant LUSC-KR 17 73883763 73883763 single base substitution T G downstream_gene_variant LUSC-KR 17 73883763 73883763 single base substitution T G intron_variant LUSC-KR 17 73886888 73886888 single base substitution A G downstream_gene_variant LUSC-KR 17 73886888 73886888 single base substitution A G intron_variant LUSC-KR 17 73886888 73886888 single base substitution A G missense_variant L509P 1526T>C LUSC-KR 17 73887996 73887996 single base substitution A G downstream_gene_variant LUSC-KR 17 73887996 73887996 single base substitution A G intron_variant LUSC-KR 17 73888423 73888423 single base substitution A G downstream_gene_variant LUSC-KR 17 73888423 73888423 single base substitution A G synonymous_variant H214H 642T>C LUSC-KR 17 73888423 73888423 single base substitution A G synonymous_variant H223H 669T>C LUSC-KR 17 73888423 73888423 single base substitution A G synonymous_variant H96H 288T>C LUSC-KR 17 73888423 73888423 single base substitution A G upstream_gene_variant LUSC-KR 17 73888427 73888427 single base substitution A C downstream_gene_variant LUSC-KR 17 73888427 73888427 single base substitution A C missense_variant V213G 638T>G LUSC-KR 17 73888427 73888427 single base substitution A C missense_variant V222G 665T>G LUSC-KR 17 73888427 73888427 single base substitution A C missense_variant V95G 284T>G LUSC-KR 17 73888427 73888427 single base substitution A C upstream_gene_variant LUSC-KR 17 73890851 73890851 single base substitution C G intron_variant LUSC-KR 17 73890851 73890851 single base substitution C G upstream_gene_variant LUSC-KR 17 73894804 73894804 single base substitution G A upstream_gene_variant LUSC-KR 17 73896503 73896503 single base substitution G A upstream_gene_variant LUSC-KR 17 73897046 73897046 single base substitution A G upstream_gene_variant LUSC-KR 17 73897412 73897412 single base substitution G A upstream_gene_variant LUSC-US 17 73871553 73871553 single base substitution C T downstream_gene_variant LUSC-US 17 73887267 73887267 single base substitution G T 3_prime_UTR_variant LUSC-US 17 73887267 73887267 single base substitution G T downstream_gene_variant LUSC-US 17 73887267 73887267 single base substitution G T intron_variant LUSC-US 17 73887267 73887267 single base substitution G T missense_variant H234N 700C>A LUSC-US 17 73887267 73887267 single base substitution G T missense_variant H383N 1147C>A LUSC-US 17 73888574 73888574 single base substitution G T downstream_gene_variant LUSC-US 17 73888574 73888574 single base substitution G T missense_variant A164D 491C>A LUSC-US 17 73888574 73888574 single base substitution G T missense_variant A173D 518C>A LUSC-US 17 73888574 73888574 single base substitution G T missense_variant A46D 137C>A LUSC-US 17 73888574 73888574 single base substitution G T upstream_gene_variant MALY-DE 17 73872538 73872538 single base substitution C T downstream_gene_variant MALY-DE 17 73878373 73878373 single base substitution C T intron_variant MALY-DE 17 73890446 73890446 single base substitution C T intron_variant MALY-DE 17 73890446 73890446 single base substitution C T upstream_gene_variant MELA-AU 17 73872858 73872858 single base substitution G C downstream_gene_variant MELA-AU 17 73873406 73873406 single base substitution C A downstream_gene_variant MELA-AU 17 73873458 73873458 single base substitution G A downstream_gene_variant MELA-AU 17 73874809 73874809 single base substitution C T downstream_gene_variant MELA-AU 17 73875379 73875379 single base substitution C T downstream_gene_variant MELA-AU 17 73875465 73875465 single base substitution G A downstream_gene_variant MELA-AU 17 73875466 73875466 single base substitution G T downstream_gene_variant MELA-AU 17 73875815 73875815 single base substitution G A downstream_gene_variant MELA-AU 17 73877148 73877148 single base substitution G A intron_variant MELA-AU 17 73877332 73877332 single base substitution A G intron_variant MELA-AU 17 73877335 73877335 single base substitution A G intron_variant MELA-AU 17 73877397 73877397 single base substitution C T intron_variant MELA-AU 17 73877416 73877416 single base substitution C T intron_variant MELA-AU 17 73877480 73877480 single base substitution G A intron_variant MELA-AU 17 73877636 73877636 single base substitution G A intron_variant MELA-AU 17 73877679 73877679 single base substitution G A intron_variant MELA-AU 17 73877792 73877792 single base substitution C T intron_variant MELA-AU 17 73878567 73878567 single base substitution G A intron_variant MELA-AU 17 73878700 73878700 single base substitution C T intron_variant MELA-AU 17 73879849 73879850 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73880146 73880146 single base substitution G A downstream_gene_variant MELA-AU 17 73880146 73880146 single base substitution G A intron_variant MELA-AU 17 73880274 73880274 single base substitution C T downstream_gene_variant MELA-AU 17 73880274 73880274 single base substitution C T intron_variant MELA-AU 17 73880608 73880608 single base substitution C T downstream_gene_variant MELA-AU 17 73880608 73880608 single base substitution C T intron_variant MELA-AU 17 73880711 73880711 single base substitution C T downstream_gene_variant MELA-AU 17 73880711 73880711 single base substitution C T intron_variant MELA-AU 17 73881674 73881674 single base substitution C T downstream_gene_variant MELA-AU 17 73881674 73881674 single base substitution C T intron_variant MELA-AU 17 73882394 73882394 single base substitution G A downstream_gene_variant MELA-AU 17 73882394 73882394 single base substitution G A intron_variant MELA-AU 17 73882472 73882472 single base substitution G A downstream_gene_variant MELA-AU 17 73882472 73882472 single base substitution G A intron_variant MELA-AU 17 73882596 73882597 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73882596 73882597 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73883169 73883169 single base substitution C T downstream_gene_variant MELA-AU 17 73883169 73883169 single base substitution C T intron_variant MELA-AU 17 73883825 73883825 single base substitution G A downstream_gene_variant MELA-AU 17 73883825 73883825 single base substitution G A intron_variant MELA-AU 17 73884243 73884243 single base substitution T C downstream_gene_variant MELA-AU 17 73884243 73884243 single base substitution T C intron_variant MELA-AU 17 73884662 73884662 single base substitution G A downstream_gene_variant MELA-AU 17 73884662 73884662 single base substitution G A intron_variant MELA-AU 17 73885534 73885534 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73885534 73885534 single base substitution G A downstream_gene_variant MELA-AU 17 73885534 73885534 single base substitution G A intron_variant MELA-AU 17 73885953 73885953 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73885953 73885953 single base substitution G A downstream_gene_variant MELA-AU 17 73885953 73885953 single base substitution G A intron_variant MELA-AU 17 73885968 73885968 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73885968 73885968 single base substitution C T downstream_gene_variant MELA-AU 17 73885968 73885968 single base substitution C T intron_variant MELA-AU 17 73887083 73887083 single base substitution G A downstream_gene_variant MELA-AU 17 73887083 73887083 single base substitution G A intron_variant MELA-AU 17 73887083 73887083 single base substitution G A missense_variant P444L 1331C>T MELA-AU 17 73887274 73887274 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73887274 73887274 single base substitution C T downstream_gene_variant MELA-AU 17 73887274 73887274 single base substitution C T intron_variant MELA-AU 17 73887274 73887274 single base substitution C T synonymous_variant Q231Q 693G>A MELA-AU 17 73887274 73887274 single base substitution C T synonymous_variant Q380Q 1140G>A MELA-AU 17 73887374 73887374 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73887374 73887374 single base substitution G A downstream_gene_variant MELA-AU 17 73887374 73887374 single base substitution G A missense_variant S111L 332C>T MELA-AU 17 73887374 73887374 single base substitution G A missense_variant S198L 593C>T MELA-AU 17 73887374 73887374 single base substitution G A missense_variant S347L 1040C>T MELA-AU 17 73887374 73887374 single base substitution G A missense_variant S65L 194C>T MELA-AU 17 73887462 73887462 single base substitution G A downstream_gene_variant MELA-AU 17 73887462 73887462 single base substitution G A intron_variant MELA-AU 17 73887558 73887558 single base substitution G A downstream_gene_variant MELA-AU 17 73887558 73887558 single base substitution G A intron_variant MELA-AU 17 73888453 73888453 single base substitution A T downstream_gene_variant MELA-AU 17 73888453 73888453 single base substitution A T synonymous_variant A204A 612T>A MELA-AU 17 73888453 73888453 single base substitution A T synonymous_variant A213A 639T>A MELA-AU 17 73888453 73888453 single base substitution A T synonymous_variant A86A 258T>A MELA-AU 17 73888453 73888453 single base substitution A T upstream_gene_variant MELA-AU 17 73888677 73888677 single base substitution G A exon_variant MELA-AU 17 73888677 73888677 single base substitution G A intron_variant MELA-AU 17 73888677 73888677 single base substitution G A upstream_gene_variant MELA-AU 17 73889539 73889539 single base substitution G A intron_variant MELA-AU 17 73889539 73889539 single base substitution G A upstream_gene_variant MELA-AU 17 73889556 73889556 single base substitution C T intron_variant MELA-AU 17 73889556 73889556 single base substitution C T upstream_gene_variant MELA-AU 17 73889717 73889717 single base substitution G A intron_variant MELA-AU 17 73889717 73889717 single base substitution G A upstream_gene_variant MELA-AU 17 73889718 73889718 single base substitution G A intron_variant MELA-AU 17 73889718 73889718 single base substitution G A upstream_gene_variant MELA-AU 17 73890822 73890823 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73890822 73890823 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 73890937 73890937 single base substitution C T intron_variant MELA-AU 17 73890937 73890937 single base substitution C T upstream_gene_variant MELA-AU 17 73891078 73891078 single base substitution C T intron_variant MELA-AU 17 73891078 73891078 single base substitution C T upstream_gene_variant MELA-AU 17 73893952 73893952 single base substitution G A upstream_gene_variant MELA-AU 17 73893969 73893969 single base substitution G A upstream_gene_variant MELA-AU 17 73894628 73894628 single base substitution G A upstream_gene_variant MELA-AU 17 73895019 73895019 single base substitution G A upstream_gene_variant MELA-AU 17 73895021 73895021 single base substitution G A upstream_gene_variant MELA-AU 17 73895033 73895033 single base substitution C T upstream_gene_variant MELA-AU 17 73895530 73895530 single base substitution T C upstream_gene_variant MELA-AU 17 73895879 73895879 single base substitution C A upstream_gene_variant MELA-AU 17 73896781 73896781 single base substitution G A upstream_gene_variant MELA-AU 17 73897349 73897349 single base substitution G A upstream_gene_variant MELA-AU 17 73897800 73897800 single base substitution G A upstream_gene_variant MELA-AU 17 73898074 73898074 single base substitution G A upstream_gene_variant ORCA-IN 17 73871871 73871871 single base substitution T G downstream_gene_variant ORCA-IN 17 73889272 73889272 single base substitution C G intron_variant ORCA-IN 17 73889272 73889272 single base substitution C G upstream_gene_variant ORCA-IN 17 73890486 73890486 single base substitution C T intron_variant ORCA-IN 17 73890486 73890486 single base substitution C T upstream_gene_variant ORCA-IN 17 73890984 73890984 single base substitution C G intron_variant ORCA-IN 17 73890984 73890984 single base substitution C G upstream_gene_variant OV-AU 17 73876786 73876786 single base substitution C T intron_variant OV-AU 17 73882927 73882927 single base substitution C T downstream_gene_variant OV-AU 17 73882927 73882927 single base substitution C T intron_variant OV-AU 17 73883102 73883102 single base substitution G T downstream_gene_variant OV-AU 17 73883102 73883102 single base substitution G T intron_variant OV-AU 17 73887319 73887319 single base substitution G C 3_prime_UTR_variant OV-AU 17 73887319 73887319 single base substitution G C downstream_gene_variant OV-AU 17 73887319 73887319 single base substitution G C intron_variant OV-AU 17 73887319 73887319 single base substitution G C synonymous_variant P216P 648C>G OV-AU 17 73887319 73887319 single base substitution G C synonymous_variant P365P 1095C>G OV-AU 17 73895981 73895981 single base substitution G A upstream_gene_variant PACA-AU 17 73871820 73871820 single base substitution G C downstream_gene_variant PACA-AU 17 73875325 73875325 single base substitution G A downstream_gene_variant PACA-AU 17 73875925 73875925 single base substitution C T downstream_gene_variant PACA-AU 17 73881087 73881087 single base substitution G A downstream_gene_variant PACA-AU 17 73881087 73881087 single base substitution G A intron_variant PACA-AU 17 73883264 73883264 single base substitution A C downstream_gene_variant PACA-AU 17 73883264 73883264 single base substitution A C intron_variant PACA-AU 17 73892870 73892870 single base substitution C T missense_variant C41Y 122G>A PACA-AU 17 73892870 73892870 single base substitution C T missense_variant C50Y 149G>A PACA-AU 17 73892870 73892870 single base substitution C T upstream_gene_variant PACA-CA 17 73878118 73878118 single base substitution G A intron_variant PACA-CA 17 73879552 73879552 insertion of <=200bp - T intron_variant PACA-CA 17 73884424 73884424 single base substitution A G downstream_gene_variant PACA-CA 17 73884424 73884424 single base substitution A G intron_variant PACA-CA 17 73886613 73886613 single base substitution C T 3_prime_UTR_variant PACA-CA 17 73886613 73886613 single base substitution C T downstream_gene_variant PACA-CA 17 73886613 73886613 single base substitution C T intron_variant PACA-CA 17 73891601 73891601 single base substitution A G intron_variant PACA-CA 17 73891601 73891601 single base substitution A G upstream_gene_variant PACA-CA 17 73891743 73891743 single base substitution C T intron_variant PACA-CA 17 73891743 73891743 single base substitution C T upstream_gene_variant PACA-CA 17 73894733 73894733 single base substitution G T upstream_gene_variant PACA-CA 17 73895083 73895083 single base substitution G A upstream_gene_variant PACA-CA 17 73895605 73895605 deletion of <=200bp G - upstream_gene_variant PACA-CA 17 73896330 73896330 single base substitution A T upstream_gene_variant PACA-CA 17 73896434 73896434 single base substitution C T upstream_gene_variant PAEN-AU 17 73893235 73893235 single base substitution A C upstream_gene_variant PBCA-DE 17 73872870 73872870 single base substitution C T downstream_gene_variant PBCA-DE 17 73881311 73881311 single base substitution G T downstream_gene_variant PBCA-DE 17 73881311 73881311 single base substitution G T intron_variant PBCA-DE 17 73890887 73890887 single base substitution G C intron_variant PBCA-DE 17 73890887 73890887 single base substitution G C upstream_gene_variant PBCA-DE 17 73896534 73896534 single base substitution T C upstream_gene_variant PRAD-CA 17 73884245 73884245 single base substitution T A downstream_gene_variant PRAD-CA 17 73884245 73884245 single base substitution T A intron_variant PRAD-CA 17 73884253 73884253 single base substitution A T downstream_gene_variant PRAD-CA 17 73884253 73884253 single base substitution A T intron_variant PRAD-CA 17 73890182 73890182 single base substitution G A intron_variant PRAD-CA 17 73890182 73890182 single base substitution G A upstream_gene_variant PRAD-US 17 73887232 73887232 single base substitution C T downstream_gene_variant PRAD-US 17 73887232 73887232 single base substitution C T intron_variant PRAD-US 17 73887232 73887232 single base substitution C T synonymous_variant S245S 735G>A PRAD-US 17 73887232 73887232 single base substitution C T synonymous_variant S394S 1182G>A PRAD-US 17 73897875 73897875 single base substitution C T upstream_gene_variant READ-US 17 73895281 73895281 single base substitution G A upstream_gene_variant RECA-EU 17 73878631 73878631 single base substitution T C intron_variant RECA-EU 17 73881840 73881840 single base substitution G C downstream_gene_variant RECA-EU 17 73881840 73881840 single base substitution G C intron_variant RECA-EU 17 73886270 73886270 single base substitution T C 3_prime_UTR_variant RECA-EU 17 73886270 73886270 single base substitution T C downstream_gene_variant RECA-EU 17 73886270 73886270 single base substitution T C intron_variant RECA-EU 17 73887681 73887681 single base substitution C T downstream_gene_variant RECA-EU 17 73887681 73887681 single base substitution C T intron_variant RECA-EU 17 73895838 73895838 single base substitution C T upstream_gene_variant SKCA-BR 17 73873942 73873942 single base substitution C T downstream_gene_variant SKCA-BR 17 73876321 73876325 deletion of <=200bp ATTCT - downstream_gene_variant SKCA-BR 17 73876793 73876793 single base substitution C T intron_variant SKCA-BR 17 73877877 73877877 single base substitution C T intron_variant SKCA-BR 17 73880157 73880157 single base substitution T G downstream_gene_variant SKCA-BR 17 73880157 73880157 single base substitution T G intron_variant SKCA-BR 17 73881622 73881622 single base substitution A C downstream_gene_variant SKCA-BR 17 73881622 73881622 single base substitution A C intron_variant SKCA-BR 17 73882602 73882603 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 17 73882602 73882603 deletion of <=200bp CA - intron_variant SKCA-BR 17 73882973 73882975 deletion of <=200bp GGA - downstream_gene_variant SKCA-BR 17 73882973 73882975 deletion of <=200bp GGA - intron_variant SKCA-BR 17 73886461 73886461 single base substitution T C 3_prime_UTR_variant SKCA-BR 17 73886461 73886461 single base substitution T C downstream_gene_variant SKCA-BR 17 73886461 73886461 single base substitution T C intron_variant SKCA-BR 17 73888142 73888142 single base substitution T C downstream_gene_variant SKCA-BR 17 73888142 73888142 single base substitution T C intron_variant SKCA-BR 17 73888142 73888142 single base substitution T C missense_variant E163G 488A>G SKCA-BR 17 73888142 73888142 single base substitution T C missense_variant E290G 869A>G SKCA-BR 17 73888142 73888142 single base substitution T C missense_variant E30G 89A>G SKCA-BR 17 73888142 73888142 single base substitution T C missense_variant E54G 161A>G SKCA-BR 17 73890873 73890873 single base substitution G A intron_variant SKCA-BR 17 73890873 73890873 single base substitution G A upstream_gene_variant SKCA-BR 17 73893409 73893409 single base substitution A C upstream_gene_variant SKCA-BR 17 73895430 73895430 single base substitution A C upstream_gene_variant SKCA-BR 17 73898036 73898036 single base substitution T G upstream_gene_variant SKCM-US 17 73872106 73872106 single base substitution G A downstream_gene_variant SKCM-US 17 73872477 73872477 single base substitution C T downstream_gene_variant SKCM-US 17 73887084 73887084 single base substitution G A downstream_gene_variant SKCM-US 17 73887084 73887084 single base substitution G A intron_variant SKCM-US 17 73887084 73887084 single base substitution G A missense_variant P444S 1330C>T SKCM-US 17 73887135 73887135 single base substitution C G downstream_gene_variant SKCM-US 17 73887135 73887135 single base substitution C G intron_variant SKCM-US 17 73887135 73887135 single base substitution C G missense_variant V278L 832G>C SKCM-US 17 73887135 73887135 single base substitution C G missense_variant V427L 1279G>C SKCM-US 17 73887210 73887210 single base substitution G A downstream_gene_variant SKCM-US 17 73887210 73887210 single base substitution G A intron_variant SKCM-US 17 73887210 73887210 single base substitution G A missense_variant P253S 757C>T SKCM-US 17 73887210 73887210 single base substitution G A missense_variant P402S 1204C>T SKCM-US 17 73887946 73887946 single base substitution G A downstream_gene_variant SKCM-US 17 73887946 73887946 single base substitution G A intron_variant SKCM-US 17 73887946 73887946 single base substitution G A synonymous_variant P311P 933C>T SKCM-US 17 73887946 73887946 single base substitution G A synonymous_variant P75P 225C>T SKCM-US 17 73887947 73887947 single base substitution G A downstream_gene_variant SKCM-US 17 73887947 73887947 single base substitution G A intron_variant SKCM-US 17 73887947 73887947 single base substitution G A missense_variant P311L 932C>T SKCM-US 17 73887947 73887947 single base substitution G A missense_variant P75L 224C>T SKCM-US 17 73888441 73888443 deletion of <=200bp CTC - downstream_gene_variant SKCM-US 17 73888441 73888443 deletion of <=200bp CTC - inframe_deletion E208 SKCM-US 17 73888441 73888443 deletion of <=200bp CTC - inframe_deletion E217 SKCM-US 17 73888441 73888443 deletion of <=200bp CTC - inframe_deletion E90 SKCM-US 17 73888441 73888443 deletion of <=200bp CTC - upstream_gene_variant SKCM-US 17 73888544 73888544 single base substitution T C downstream_gene_variant SKCM-US 17 73888544 73888544 single base substitution T C missense_variant K174R 521A>G SKCM-US 17 73888544 73888544 single base substitution T C missense_variant K183R 548A>G SKCM-US 17 73888544 73888544 single base substitution T C missense_variant K56R 167A>G SKCM-US 17 73888544 73888544 single base substitution T C upstream_gene_variant SKCM-US 17 73895042 73895042 single base substitution G A upstream_gene_variant STAD-US 17 73871509 73871509 single base substitution A G downstream_gene_variant STAD-US 17 73887136 73887136 single base substitution G A downstream_gene_variant STAD-US 17 73887136 73887136 single base substitution G A intron_variant STAD-US 17 73887136 73887136 single base substitution G A synonymous_variant C277C 831C>T STAD-US 17 73887136 73887136 single base substitution G A synonymous_variant C426C 1278C>T STAD-US 17 73888350 73888350 single base substitution G A downstream_gene_variant STAD-US 17 73888350 73888350 single base substitution G A stop_gained Q121* 361C>T STAD-US 17 73888350 73888350 single base substitution G A stop_gained Q12* 34C>T STAD-US 17 73888350 73888350 single base substitution G A stop_gained Q239* 715C>T STAD-US 17 73888350 73888350 single base substitution G A stop_gained Q248* 742C>T STAD-US 17 73888350 73888350 single base substitution G A upstream_gene_variant STAD-US 17 73888549 73888549 single base substitution G A downstream_gene_variant STAD-US 17 73888549 73888549 single base substitution G A synonymous_variant S172S 516C>T STAD-US 17 73888549 73888549 single base substitution G A synonymous_variant S181S 543C>T STAD-US 17 73888549 73888549 single base substitution G A synonymous_variant S54S 162C>T STAD-US 17 73888549 73888549 single base substitution G A upstream_gene_variant STAD-US 17 73888555 73888555 single base substitution C A downstream_gene_variant STAD-US 17 73888555 73888555 single base substitution C A missense_variant W170C 510G>T STAD-US 17 73888555 73888555 single base substitution C A missense_variant W179C 537G>T STAD-US 17 73888555 73888555 single base substitution C A missense_variant W52C 156G>T STAD-US 17 73888555 73888555 single base substitution C A upstream_gene_variant STAD-US 17 73894995 73894995 single base substitution C T upstream_gene_variant STAD-US 17 73895038 73895038 single base substitution G A upstream_gene_variant STAD-US 17 73895602 73895602 single base substitution T C upstream_gene_variant UCEC-US 17 73872484 73872484 single base substitution G T downstream_gene_variant UCEC-US 17 73887188 73887188 single base substitution A G downstream_gene_variant UCEC-US 17 73887188 73887188 single base substitution A G intron_variant UCEC-US 17 73887188 73887188 single base substitution A G missense_variant L260P 779T>C UCEC-US 17 73887188 73887188 single base substitution A G missense_variant L409P 1226T>C UCEC-US 17 73888505 73888505 single base substitution G A downstream_gene_variant UCEC-US 17 73888505 73888505 single base substitution G A missense_variant T187M 560C>T UCEC-US 17 73888505 73888505 single base substitution G A missense_variant T196M 587C>T UCEC-US 17 73888505 73888505 single base substitution G A missense_variant T69M 206C>T UCEC-US 17 73888505 73888505 single base substitution G A upstream_gene_variant UCEC-US 17 73895042 73895042 single base substitution G A upstream_gene_variant UCEC-US 17 73895358 73895358 single base substitution C T upstream_gene_variant UCEC-US 17 73895623 73895623 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand WSU-HN8 COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - TCGA-CF-A27C-01 COSM1303359 c.42C>T p.I14I Substitution - coding silent 17:75896896-75896896 - WSU-HN12 COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - TCGA-EE-A3AD-06 COSM3522350 c.1330C>T p.P444S Substitution - Missense 17:75891003-75891003 - 2492701 COSM5715856 c.702C>T p.I234I Substitution - coding silent 17:75892309-75892309 - WSU-HN12 COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - 93VU147T COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - Au2 COSM5600722 c.1464C>T p.V488V Substitution - coding silent 17:75890869-75890869 - TCGA-EJ-5514-01 COSM1130159 c.1182G>A p.S394S Substitution - coding silent 17:75891151-75891151 - TCGA-G2-A2EJ-01 COSM1303358 c.1275C>G p.L425L Substitution - coding silent 17:75891058-75891058 - PTC-7C COSM3755870 c.558C>T p.S186S Substitution - coding silent 17:75892453-75892453 - TCGA-FS-A1ZK-06 COSM3522354 c.548A>G p.K183R Substitution - Missense 17:75892463-75892463 - 2492729 COSM5727111 c.978C>T p.L326L Substitution - coding silent 17:75891820-75891820 - PTC-54C COSM3755869 c.665T>G p.V222G Substitution - Missense 17:75892346-75892346 - CAL27 COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - 2492703 COSM5600722 c.1464C>T p.V488V Substitution - coding silent 17:75890869-75890869 - PD8620a COSM5769296 c.30G>T p.L10L Substitution - coding silent 17:75896908-75896908 - TCGA-BG-A0MG-01 COSM984510 c.1226T>C p.L409P Substitution - Missense 17:75891107-75891107 - T3145 COSM2742398 c.1089C>T p.G363G Substitution - coding silent 17:75891244-75891244 - sysucc-1317T COSM562446 c.1165C>T p.R389C Substitution - Missense 17:75891168-75891168 - TCGA-AP-A059-01 COSM984511 c.587C>T p.T196M Substitution - Missense 17:75892424-75892424 - 2492700 COSM5600722 c.1464C>T p.V488V Substitution - coding silent 17:75890869-75890869 - 1N40-VS-1T40 COSM4975324 c.1216C>T p.R406W Substitution - Missense 17:75891117-75891117 - NOKSI COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - TCGA-BP-4960-01 COSM473383 c.487C>T p.R163C Substitution - Missense 17:75892778-75892778 - TCGA-D5-6927-01 COSM1386071 c.1476C>T p.L492L Substitution - coding silent 17:75890857-75890857 - TCGA-G3-A3CJ-01 COSM4914791 c.1042C>T p.R348C Substitution - Missense 17:75891291-75891291 - HN_00761 COSM129908 c.466G>A p.E156K Substitution - Missense 17:75892799-75892799 - SCC-25 COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - UM-SCC-2 COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - 08-P1004 COSM4580130 c.991C>T p.R331C Substitution - Missense 17:75891342-75891342 - NCI-H835 COSM5368179 c.851G>A p.C284Y Substitution - Missense 17:75892079-75892079 - CAL33 COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - TCGA-AM-5820-01 COSM3755870 c.558C>T p.S186S Substitution - coding silent 17:75892453-75892453 - CHEWS008 COSM4580130 c.991C>T p.R331C Substitution - Missense 17:75891342-75891342 - ORL-48 COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - CSCC-29-T COSM4507129 c.738C>A p.F246L Substitution - Missense 17:75892273-75892273 - TCGA-DK-A1A7-01 COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - S01366 COSM316169 c.1234delC p.H412fs*86 Deletion - Frameshift 17:75891099-75891099 - ESCC_58 COSM5632554 c.498C>T p.S166S Substitution - coding silent 17:75892767-75892767 - BICR_22 COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - SCC-15 COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - TCGA-AM-5820-01 COSM437402 c.1526T>C p.L509P Substitution - Missense 17:75890807-75890807 - 2492702 COSM5600722 c.1464C>T p.V488V Substitution - coding silent 17:75890869-75890869 - TCGA-D3-A2J8-06 COSM3522353 c.932C>T p.P311L Substitution - Missense 17:75891866-75891866 - BHY COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - TCGA-BR-4280-01 COSM4069716 c.742C>T p.Q248* Substitution - Nonsense 17:75892269-75892269 - P03-1426 COSM247994 c.749C>T p.S250L Substitution - Missense 17:75892181-75892181 - TCGA-HJ-7597-01 COSM2742410 c.543C>T p.S181S Substitution - coding silent 17:75892468-75892468 - TCGA-21-5786-01 COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - CSCC-56-T COSM4514099 c.962C>T p.P321L Substitution - Missense 17:75891836-75891836 - PTC-7C COSM437402 c.1526T>C p.L509P Substitution - Missense 17:75890807-75890807 - NOKSI COSM417982 c.1147C>A p.H383N Substitution - Missense 17:75891186-75891186 - MDA-MB-231 COSM1684529 c.976_977delCT p.W327fs*9 Deletion - Frameshift 17:75891821-75891822 - 2492702 COSM5715856 c.702C>T p.I234I Substitution - coding silent 17:75892309-75892309 - AOCS-120-3-6 COSM4139833 c.1095C>G p.P365P Substitution - coding silent 17:75891238-75891238 - AD53 COSM5966585 c.344G>T p.S115I Substitution - Missense 17:75896594-75896594 - DLD1 COSM984511 c.587C>T p.T196M Substitution - Missense 17:75892424-75892424 - SNU-175 COSM2742393 c.1194C>T p.G398G Substitution - coding silent 17:75891139-75891139 - TCGA-32-2495-01 COSM3403223 c.1070G>A p.R357H Substitution - Missense 17:75891263-75891263 - T3021 COSM2742396 c.1167C>T p.R389R Substitution - coding silent 17:75891166-75891166 - CRC-12T COSM5480710 c.894C>A p.A298A Substitution - coding silent 17:75892036-75892036 - TCGA-AA-3662-01 COSM3755869 c.665T>G p.V222G Substitution - Missense 17:75892346-75892346 - TCGA-AA-3662-01 COSM3755868 c.669T>C p.H223H Substitution - coding silent 17:75892342-75892342 - TCGA-66-2759-01 COSM707182 c.518C>A p.A173D Substitution - Missense 17:75892493-75892493 - TCGA-BR-8487-01 COSM4069715 c.1278C>T p.C426C Substitution - coding silent 17:75891055-75891055 - TCGA-EE-A3AC-06 COSM3522351 c.1279G>C p.V427L Substitution - Missense 17:75891054-75891054 - TCGA-AC-A2B8-01 COSM3820586 c.641G>A p.R214Q Substitution - Missense 17:75892370-75892370 - T3503 COSM473383 c.487C>T p.R163C Substitution - Missense 17:75892778-75892778 - CSCC-42-T COSM4466926 c.1460C>T p.P487L Substitution - Missense 17:75890873-75890873 - HCC101T COSM5813315 c.376G>T p.E126* Substitution - Nonsense 17:75896562-75896562 - TCGA-04-1337-01 COSM111599 c.1380delC p.C461fs*37 Deletion - Frameshift 17:75890953-75890953 - TCGA-GF-A6C8-06 COSM3890441 c.1204C>T p.P402S Substitution - Missense 17:75891129-75891129 - TCGA-DM-A1HA-01 COSM1386072 c.1308C>A p.H436Q Substitution - Missense 17:75891025-75891025 - 2492700 COSM5715856 c.702C>T p.I234I Substitution - coding silent 17:75892309-75892309 - sysucc-274T COSM2742395 c.1168G>A p.A390T Substitution - Missense 17:75891165-75891165 - CHC892T COSM4796327 c.1528G>A p.G510R Substitution - Missense 17:75890805-75890805 - TCGA-CG-5728-01 COSM4069717 c.537G>T p.W179C Substitution - Missense 17:75892474-75892474 - SW620 COSM4656532 c.102C>T p.A34A Substitution - coding silent 17:75896836-75896836 - 2492701 COSM5600722 c.1464C>T p.V488V Substitution - coding silent 17:75890869-75890869 - pfg166T COSM4757466 c.14T>A p.L5Q Substitution - Missense 17:75896924-75896924 - PTC-54C COSM3755868 c.669T>C p.H223H Substitution - coding silent 17:75892342-75892342 - TCGA-AA-3660-01 COSM1386073 c.1040C>T p.S347L Substitution - Missense 17:75891293-75891293 - pfg129T COSM4747476 c.978_979delCT p.W327fs*9 Deletion - Frameshift 17:75891819-75891820 - TCGA-D1-A177-01 COSM707182 c.518C>A p.A173D Substitution - Missense 17:75892493-75892493 - CHC892T COSM4796327 c.1528G>A p.G510R Substitution - Missense 17:75890805-75890805 - CSCC-15-T COSM4564551 c.1265_1266CC>TT p.S422F Substitution - Missense 17:75891067-75891068 - PTC-77C COSM4130646 c.1128C>T p.A376A Substitution - coding silent 17:75891205-75891205 - 2492703 COSM5715856 c.702C>T p.I234I Substitution - coding silent 17:75892309-75892309 - S01366 COSM316169 c.1234delC p.H412fs*86 Deletion - Frameshift 17:75891099-75891099 - 8014396 COSM3388145 c.149G>A p.C50Y Substitution - Missense 17:75896789-75896789 - UM-SCC-11B COSM4597917 c.533C>T p.S178F Substitution - Missense 17:75892478-75892478 - TCGA-Q1-A73O-01 COSM4835820 c.1105G>C p.E369Q Substitution - Missense 17:75891228-75891228 - SCC-9 COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - C086 COSM5540827 c.1389C>T p.T463T Substitution - coding silent 17:75890944-75890944 - BD236T COSM562446 c.1165C>T p.R389C Substitution - Missense 17:75891168-75891168 - TCGA-AN-A0FL-01 COSM437404 c.475C>G p.L159V Substitution - Missense 17:75892790-75892790 - CAL27 COSM4591638 c.1118T>G p.V373G Substitution - Missense 17:75891215-75891215 - TCGA-ER-A19D-06 COSM3522352 c.933C>T p.P311P Substitution - coding silent 17:75891865-75891865 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.189823 17q25.1 249653|dbSNP|BC013181|G/T|non-coding||1983|Validated; 609151|dbSNP|BC013181|C/T|non-coding||1973|Validated; 859974|dbSNP|BC013181|A/G|non-coding||1975|Candidate; 2394532|dbSNP|BC021259|A/G|non-coding||2642|Validated; 2461455|dbSNP|BC013181|A/G|non-coding||1982|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L409P c.1226T>C 17 73887188 UCEC C A Missense p.R389L c.1166G>T 17 73887248 LUAD C A Missense p.W179C c.537G>T 17 73888555 STAD C G Missense p.V427L c.1279G>C 17 73887135 CM CTC - InFrameDeletion p.E217delE c.649_651delGAG 17 73888441 CM C T Missense p.E156K c.466G>A 17 73888880 HNSC C T Missense p.R357H c.1070G>A 17 73887344 GBM C T Synonymous p.L333L c.999G>A 17 73887415 HNSC C T Synonymous p.S394S c.1182G>A 17 73887232 PRAD G A IntronicSNV . c.510+20C>T 17 73888816 CM G A Missense p.P311L c.932C>T 17 73887947 CM G A Missense p.P444S c.1330C>T 17 73887084 CM G A Missense p.R163C c.487C>T 17 73888859 RCCC G A Missense p.R389C c.1165C>T 17 73887249 LUAD G A Nonsense p.Q248* c.742C>T 17 73888350 STAD G A Synonymous p.D350D c.1050C>T 17 73887364 CM G A Synonymous p.I14I c.42C>T 17 73892977 BLCA G A Synonymous p.L253L c.759C>T 17 73888252 CM G A Synonymous p.P311P c.933C>T 17 73887946 CM G C Missense p.L159V c.475C>G 17 73888871 BRCA G C Synonymous p.L425L c.1275C>G 17 73887139 BLCA G - Frameshift p.C461Afs*37 c.1380delC 17 73887034 OV G - Frameshift p.H412Tfs*86 c.1234delC 17 73887180 SCLC G - Frameshift p.L273Wfs*4 c.817delC 17 73888194 HNSC G T Missense p.A173D c.518C>A 17 73888574 LUSC G T Missense p.H383N c.1147C>A 17 73887267 BLCA G T Missense p.H383N c.1147C>A 17 73887267 LUSC T C Missense p.K183R c.548A>G 17 73888544 CM