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 17752140 17752140 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:17752140C>G c.1372G>C c.(1372-1374)Gaa>Caa p.E458Q BLCA 17 17754256 17754256 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr17:17754256G>A c.1289C>T c.(1288-1290)gCg>gTg p.A430V BLCA 17 17766066 17766066 + Missense_Mutation SNP G G C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr17:17766066G>C c.1181C>G c.(1180-1182)tCc>tGc p.S394C BLCA 17 17772668 17772668 + Missense_Mutation SNP G G T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr17:17772668G>T c.897C>A c.(895-897)ttC>ttA p.F299L BLCA 17 17772713 17772713 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr17:17772713G>A c.852C>T c.(850-852)gtC>gtT p.V284V BLCA 17 17772754 17772754 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr17:17772754G>A c.811C>T c.(811-813)Cgc>Tgc p.R271C BLCA 17 17786071 17786071 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr17:17786071G>A c.608C>T c.(607-609)cCg>cTg p.P203L BLCA 17 17787974 17787974 + Missense_Mutation SNP G G C TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:17787974G>C c.475C>G c.(475-477)Ctg>Gtg p.L159V BLCA 17 17797118 17797118 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:17797118C>T c.223G>A c.(223-225)Gag>Aag p.E75K BRCA 17 17772753 17772753 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr17:17772753C>T c.812G>A c.(811-813)cGc>cAc p.R271H BRCA 17 17786097 17786097 + Silent SNP C C T TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 g.chr17:17786097C>T c.582G>A c.(580-582)tcG>tcA p.S194S BRCA 17 17786172 17786172 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 g.chr17:17786172G>A c.507C>T c.(505-507)gtC>gtT p.V169V CESC 17 17772740 17772740 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr17:17772740G>A c.825C>T c.(823-825)ctC>ctT p.L275L CESC 17 17801972 17801972 + Nonsense_Mutation SNP G G A TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 g.chr17:17801972G>A c.154C>T c.(154-156)Cga>Tga p.R52* COAD 17 17750977 17750977 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:17750977C>T c.1496G>A c.(1495-1497)cGg>cAg p.R499Q COAD 17 17786141 17786141 + Missense_Mutation SNP T T C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:17786141T>C c.538A>G c.(538-540)Agg>Ggg p.R180G COAD 17 17788000 17788000 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:17788000T>G c.449A>C c.(448-450)gAa>gCa p.E150A COADREAD 17 17750977 17750977 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:17750977C>T c.1496G>A c.(1495-1497)cGg>cAg p.R499Q COADREAD 17 17786141 17786141 + Missense_Mutation SNP T T C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:17786141T>C c.538A>G c.(538-540)Agg>Ggg p.R180G COADREAD 17 17788000 17788000 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:17788000T>G c.449A>C c.(448-450)gAa>gCa p.E150A DLBC 17 17786042 17786042 + Missense_Mutation SNP G G T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:17786042G>T c.637C>A c.(637-639)Ccc>Acc p.P213T ESCA 17 17783045 17783045 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr17:17783045G>T c.673C>A c.(673-675)Cgg>Agg p.R225R ESCA 17 17788081 17788081 + Splice_Site SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr17:17788081G>A c.368C>T c.(367-369)gCa>gTa p.A123V ESCA 17 17810778 17810778 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr17:17810778G>T c.120C>A c.(118-120)atC>atA p.I40I GBMLGG 17 17751069 17751069 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:17751069G>T c.1404C>A c.(1402-1404)gcC>gcA p.A468A GBMLGG 17 17770235 17770235 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:17770235G>A c.915C>T c.(913-915)ttC>ttT p.F305F HNSC 17 17751077 17751077 + Missense_Mutation SNP C C T TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr17:17751077C>T c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K HNSC 17 17754216 17754216 + Silent SNP C C T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr17:17754216C>T c.1329G>A c.(1327-1329)agG>agA p.R443R HNSC 17 17766143 17766143 + Silent SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr17:17766143G>A c.1104C>T c.(1102-1104)gtC>gtT p.V368V HNSC 17 17783000 17783000 + Missense_Mutation SNP C C G TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr17:17783000C>G c.718G>C c.(718-720)Gag>Cag p.E240Q HNSC 17 17783023 17783023 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr17:17783023C>T c.695G>A c.(694-696)cGa>cAa p.R232Q HNSC 17 17788011 17788011 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 g.chr17:17788011C>T c.438G>A c.(436-438)agG>agA p.R146R HNSC 17 17788024 17788024 + Missense_Mutation SNP T T A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chr17:17788024T>A c.425A>T c.(424-426)gAg>gTg p.E142V KIPAN 17 17769632 17769632 + Silent SNP G G T TCGA-B0-5099-01A-01D-1421-08 TCGA-B0-5099-11A-01D-1421-08 g.chr17:17769632G>T c.1062C>A c.(1060-1062)ctC>ctA p.L354L KIPAN 17 17772713 17772713 + Silent SNP G G A TCGA-B0-4697-01A-01D-1361-10 TCGA-B0-4697-11A-01D-1361-10 g.chr17:17772713G>A c.852C>T c.(850-852)gtC>gtT p.V284V KIPAN 17 17810845 17810845 + Splice_Site SNP T T A TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr17:17810845T>A c.53A>T c.(52-54)gAa>gTa p.E18V KIRC 17 17769632 17769632 + Silent SNP G G T TCGA-B0-5099-01A-01D-1421-08 TCGA-B0-5099-11A-01D-1421-08 g.chr17:17769632G>T c.1062C>A c.(1060-1062)ctC>ctA p.L354L KIRC 17 17772713 17772713 + Silent SNP G G A TCGA-B0-4697-01A-01D-1361-10 TCGA-B0-4697-11A-01D-1361-10 g.chr17:17772713G>A c.852C>T c.(850-852)gtC>gtT p.V284V KIRC 17 17810845 17810845 + Splice_Site SNP T T A TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr17:17810845T>A c.53A>T c.(52-54)gAa>gTa p.E18V LGG 17 17751069 17751069 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:17751069G>T c.1404C>A c.(1402-1404)gcC>gcA p.A468A LGG 17 17770235 17770235 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:17770235G>A c.915C>T c.(913-915)ttC>ttT p.F305F LIHC 17 17801962 17801962 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr17:17801962T>C c.164A>G c.(163-165)aAg>aGg p.K55R LUAD 17 17754212 17754212 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr17:17754212C>A c.1333G>T c.(1333-1335)Gac>Tac p.D445Y LUAD 17 17764829 17764829 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr17:17764829A>G c.1239T>C c.(1237-1239)ctT>ctC p.L413L LUAD 17 17801988 17801988 + Splice_Site SNP C C T TCGA-78-7167-01A-11D-2063-08 TCGA-78-7167-11A-01D-2063-08 g.chr17:17801988C>T c.138G>A c.(136-138)ggG>ggA p.G46G PAAD 17 17764838 17764838 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:17764838G>A c.1230C>T c.(1228-1230)gtC>gtT p.V410V PAAD 17 17766051 17766051 + Missense_Mutation SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 g.chr17:17766051C>T c.1196G>A c.(1195-1197)cGc>cAc p.R399H PAAD 17 17766150 17766150 + Missense_Mutation SNP T T A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:17766150T>A c.1097A>T c.(1096-1098)gAg>gTg p.E366V SKCM 17 17750954 17750954 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr17:17750954G>A c.1519C>T c.(1519-1521)Ctg>Ttg p.L507L SKCM 17 17751084 17751084 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr17:17751084G>A c.1389C>T c.(1387-1389)ttC>ttT p.F463F SKCM 17 17766051 17766051 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr17:17766051C>T c.1196G>A c.(1195-1197)cGc>cAc p.R399H SKCM 17 17766155 17766155 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:17766155C>T c.1092G>A c.(1090-1092)ggG>ggA p.G364G SKCM 17 17797059 17797059 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr17:17797059G>A c.282C>T c.(280-282)ttC>ttT p.F94F SKCM 17 17797059 17797059 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr17:17797059G>A c.282C>T c.(280-282)ttC>ttT p.F94F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 17 17750821 17750821 single base substitution G A 3_prime_UTR_variant ALL-US 17 17750821 17750821 single base substitution G A downstream_gene_variant ALL-US 17 17750821 17750821 single base substitution G A exon_variant BLCA-CN 17 17783000 17783000 single base substitution C G exon_variant BLCA-CN 17 17783000 17783000 single base substitution C G missense_variant E142Q 424G>C BLCA-CN 17 17783000 17783000 single base substitution C G missense_variant E187Q 559G>C BLCA-CN 17 17783000 17783000 single base substitution C G missense_variant E190Q 568G>C BLCA-CN 17 17783000 17783000 single base substitution C G missense_variant E195Q 583G>C BLCA-CN 17 17783000 17783000 single base substitution C G missense_variant E240Q 718G>C BLCA-CN 17 17783000 17783000 single base substitution C G missense_variant E92Q 274G>C BLCA-US 17 17754256 17754256 single base substitution G A exon_variant BLCA-US 17 17754256 17754256 single base substitution G A intron_variant BLCA-US 17 17754256 17754256 single base substitution G A missense_variant A163V 488C>T BLCA-US 17 17754256 17754256 single base substitution G A missense_variant A311V 932C>T BLCA-US 17 17754256 17754256 single base substitution G A missense_variant A380V 1139C>T BLCA-US 17 17754256 17754256 single base substitution G A missense_variant A385V 1154C>T BLCA-US 17 17754256 17754256 single base substitution G A missense_variant A406V 1217C>T BLCA-US 17 17754256 17754256 single base substitution G A missense_variant A430V 1289C>T BLCA-US 17 17754256 17754256 single base substitution G A upstream_gene_variant BLCA-US 17 17772713 17772713 single base substitution G A exon_variant BLCA-US 17 17772713 17772713 single base substitution G A synonymous_variant V136V 408C>T BLCA-US 17 17772713 17772713 single base substitution G A synonymous_variant V17V 51C>T BLCA-US 17 17772713 17772713 single base substitution G A synonymous_variant V186V 558C>T BLCA-US 17 17772713 17772713 single base substitution G A synonymous_variant V231V 693C>T BLCA-US 17 17772713 17772713 single base substitution G A synonymous_variant V234V 702C>T BLCA-US 17 17772713 17772713 single base substitution G A synonymous_variant V239V 717C>T BLCA-US 17 17772713 17772713 single base substitution G A synonymous_variant V284V 852C>T BOCA-FR 17 17772861 17772861 single base substitution T C 5_prime_UTR_variant BOCA-FR 17 17772861 17772861 single base substitution T C intron_variant BRCA-EU 17 17742339 17742339 single base substitution G A downstream_gene_variant BRCA-EU 17 17743355 17743355 single base substitution G A downstream_gene_variant BRCA-EU 17 17744201 17744201 single base substitution G C downstream_gene_variant BRCA-EU 17 17745657 17745657 single base substitution C T downstream_gene_variant BRCA-EU 17 17751484 17751484 single base substitution G A intron_variant BRCA-EU 17 17752770 17752770 single base substitution G A intron_variant BRCA-EU 17 17752770 17752770 single base substitution G A upstream_gene_variant BRCA-EU 17 17753376 17753376 single base substitution C G intron_variant BRCA-EU 17 17753376 17753376 single base substitution C G upstream_gene_variant BRCA-EU 17 17753388 17753388 single base substitution C T intron_variant BRCA-EU 17 17753388 17753388 single base substitution C T upstream_gene_variant BRCA-EU 17 17753663 17753663 single base substitution C G intron_variant BRCA-EU 17 17753663 17753663 single base substitution C G upstream_gene_variant BRCA-EU 17 17753828 17753828 deletion of <=200bp C - intron_variant BRCA-EU 17 17753828 17753828 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 17754016 17754016 deletion of <=200bp A - intron_variant BRCA-EU 17 17754016 17754016 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 17754685 17754685 single base substitution C G intron_variant BRCA-EU 17 17754685 17754685 single base substitution C G upstream_gene_variant BRCA-EU 17 17755097 17755097 single base substitution C T intron_variant BRCA-EU 17 17755097 17755097 single base substitution C T upstream_gene_variant BRCA-EU 17 17756981 17756981 single base substitution G A intron_variant BRCA-EU 17 17756981 17756981 single base substitution G A upstream_gene_variant BRCA-EU 17 17757393 17757393 single base substitution T G intron_variant BRCA-EU 17 17757393 17757393 single base substitution T G upstream_gene_variant BRCA-EU 17 17757613 17757613 single base substitution G A intron_variant BRCA-EU 17 17757613 17757613 single base substitution G A upstream_gene_variant BRCA-EU 17 17758005 17758005 single base substitution A T intron_variant BRCA-EU 17 17758005 17758005 single base substitution A T upstream_gene_variant BRCA-EU 17 17758193 17758193 single base substitution G A intron_variant BRCA-EU 17 17758193 17758193 single base substitution G A upstream_gene_variant BRCA-EU 17 17758713 17758713 single base substitution G C intron_variant BRCA-EU 17 17758713 17758713 single base substitution G C upstream_gene_variant BRCA-EU 17 17759629 17759629 single base substitution C T intron_variant BRCA-EU 17 17761015 17761015 single base substitution G T downstream_gene_variant BRCA-EU 17 17761015 17761015 single base substitution G T intron_variant BRCA-EU 17 17761330 17761330 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 17761330 17761330 insertion of <=200bp - A intron_variant BRCA-EU 17 17761400 17761400 single base substitution G A downstream_gene_variant BRCA-EU 17 17761400 17761400 single base substitution G A intron_variant BRCA-EU 17 17762657 17762657 single base substitution G C downstream_gene_variant BRCA-EU 17 17762657 17762657 single base substitution G C intron_variant BRCA-EU 17 17765608 17765608 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 17765608 17765608 single base substitution A G downstream_gene_variant BRCA-EU 17 17765608 17765608 single base substitution A G intron_variant BRCA-EU 17 17765714 17765714 single base substitution G T downstream_gene_variant BRCA-EU 17 17765714 17765714 single base substitution G T intron_variant BRCA-EU 17 17765714 17765714 single base substitution G T missense_variant H26Q 78C>A BRCA-EU 17 17766996 17766996 single base substitution A G intron_variant BRCA-EU 17 17766996 17766996 single base substitution A G upstream_gene_variant BRCA-EU 17 17767059 17767059 single base substitution C T intron_variant BRCA-EU 17 17767059 17767059 single base substitution C T upstream_gene_variant BRCA-EU 17 17768052 17768052 single base substitution C T downstream_gene_variant BRCA-EU 17 17768052 17768052 single base substitution C T intron_variant BRCA-EU 17 17768052 17768052 single base substitution C T upstream_gene_variant BRCA-EU 17 17769103 17769103 single base substitution G A downstream_gene_variant BRCA-EU 17 17769103 17769103 single base substitution G A intron_variant BRCA-EU 17 17769103 17769103 single base substitution G A upstream_gene_variant BRCA-EU 17 17769453 17769453 single base substitution G A downstream_gene_variant BRCA-EU 17 17769453 17769453 single base substitution G A intron_variant BRCA-EU 17 17769453 17769453 single base substitution G A upstream_gene_variant BRCA-EU 17 17769674 17769674 single base substitution C T downstream_gene_variant BRCA-EU 17 17769674 17769674 single base substitution C T exon_variant BRCA-EU 17 17769674 17769674 single base substitution C T synonymous_variant V192V 576G>A BRCA-EU 17 17769674 17769674 single base substitution C T synonymous_variant V242V 726G>A BRCA-EU 17 17769674 17769674 single base substitution C T synonymous_variant V287V 861G>A BRCA-EU 17 17769674 17769674 single base substitution C T synonymous_variant V290V 870G>A BRCA-EU 17 17769674 17769674 single base substitution C T synonymous_variant V295V 885G>A BRCA-EU 17 17769674 17769674 single base substitution C T synonymous_variant V340V 1020G>A BRCA-EU 17 17769674 17769674 single base substitution C T synonymous_variant V73V 219G>A BRCA-EU 17 17769674 17769674 single base substitution C T upstream_gene_variant BRCA-EU 17 17772680 17772680 single base substitution G C exon_variant BRCA-EU 17 17772680 17772680 single base substitution G C synonymous_variant L147L 441C>G BRCA-EU 17 17772680 17772680 single base substitution G C synonymous_variant L197L 591C>G BRCA-EU 17 17772680 17772680 single base substitution G C synonymous_variant L242L 726C>G BRCA-EU 17 17772680 17772680 single base substitution G C synonymous_variant L245L 735C>G BRCA-EU 17 17772680 17772680 single base substitution G C synonymous_variant L250L 750C>G BRCA-EU 17 17772680 17772680 single base substitution G C synonymous_variant L28L 84C>G BRCA-EU 17 17772680 17772680 single base substitution G C synonymous_variant L295L 885C>G BRCA-EU 17 17772740 17772740 single base substitution G C exon_variant BRCA-EU 17 17772740 17772740 single base substitution G C synonymous_variant L127L 381C>G BRCA-EU 17 17772740 17772740 single base substitution G C synonymous_variant L177L 531C>G BRCA-EU 17 17772740 17772740 single base substitution G C synonymous_variant L222L 666C>G BRCA-EU 17 17772740 17772740 single base substitution G C synonymous_variant L225L 675C>G BRCA-EU 17 17772740 17772740 single base substitution G C synonymous_variant L230L 690C>G BRCA-EU 17 17772740 17772740 single base substitution G C synonymous_variant L275L 825C>G BRCA-EU 17 17772740 17772740 single base substitution G C synonymous_variant L8L 24C>G BRCA-EU 17 17773925 17773925 single base substitution C G intron_variant BRCA-EU 17 17774352 17774352 single base substitution C G intron_variant BRCA-EU 17 17774514 17774514 single base substitution C A intron_variant BRCA-EU 17 17776816 17776816 single base substitution G C intron_variant BRCA-EU 17 17776816 17776816 single base substitution G C upstream_gene_variant BRCA-EU 17 17777041 17777041 single base substitution C A intron_variant BRCA-EU 17 17777041 17777041 single base substitution C A upstream_gene_variant BRCA-EU 17 17780639 17780639 single base substitution G A intron_variant BRCA-EU 17 17783183 17783183 single base substitution C T intron_variant BRCA-EU 17 17783554 17783554 single base substitution G T intron_variant BRCA-EU 17 17784198 17784198 single base substitution T G intron_variant BRCA-EU 17 17788563 17788563 single base substitution G C intron_variant BRCA-EU 17 17793963 17793963 single base substitution G A downstream_gene_variant BRCA-EU 17 17793963 17793963 single base substitution G A intron_variant BRCA-EU 17 17794738 17794738 single base substitution G A downstream_gene_variant BRCA-EU 17 17794738 17794738 single base substitution G A intron_variant BRCA-EU 17 17796390 17796390 single base substitution G C downstream_gene_variant BRCA-EU 17 17796390 17796390 single base substitution G C intron_variant BRCA-EU 17 17801274 17801274 single base substitution C G intron_variant BRCA-EU 17 17801332 17801332 single base substitution C T intron_variant BRCA-EU 17 17804142 17804142 single base substitution G C intron_variant BRCA-EU 17 17805055 17805055 single base substitution G A intron_variant BRCA-EU 17 17806511 17806511 insertion of <=200bp - A intron_variant BRCA-EU 17 17806648 17806648 single base substitution G C intron_variant BRCA-EU 17 17807460 17807460 single base substitution G C intron_variant BRCA-EU 17 17808723 17808723 single base substitution T C intron_variant BRCA-EU 17 17808788 17808788 single base substitution C T intron_variant BRCA-EU 17 17808959 17808959 single base substitution C G intron_variant BRCA-EU 17 17811883 17811883 single base substitution G C intron_variant BRCA-EU 17 17812464 17812464 single base substitution C A intron_variant BRCA-EU 17 17812489 17812489 single base substitution C T intron_variant BRCA-EU 17 17813573 17813573 single base substitution G C intron_variant BRCA-EU 17 17813624 17813624 single base substitution G T intron_variant BRCA-EU 17 17813672 17813672 single base substitution C T intron_variant BRCA-EU 17 17817198 17817198 single base substitution C G intron_variant BRCA-EU 17 17818194 17818194 deletion of <=200bp A - intron_variant BRCA-EU 17 17818203 17818203 single base substitution T A intron_variant BRCA-EU 17 17819624 17819624 single base substitution T A intron_variant BRCA-EU 17 17822134 17822134 single base substitution C A intron_variant BRCA-EU 17 17823087 17823087 single base substitution G C intron_variant BRCA-EU 17 17823255 17823255 single base substitution G A intron_variant BRCA-EU 17 17823256 17823256 single base substitution A G intron_variant BRCA-EU 17 17823484 17823484 single base substitution G A intron_variant BRCA-EU 17 17823944 17823944 single base substitution G A intron_variant BRCA-EU 17 17825679 17825679 single base substitution G C intron_variant BRCA-EU 17 17826366 17826366 single base substitution G A intron_variant BRCA-EU 17 17826835 17826835 deletion of <=200bp A - intron_variant BRCA-EU 17 17826954 17826954 single base substitution T A intron_variant BRCA-EU 17 17828614 17828614 deletion of <=200bp A - intron_variant BRCA-EU 17 17830413 17830413 single base substitution G A intron_variant BRCA-EU 17 17830951 17830951 single base substitution G C intron_variant BRCA-EU 17 17831200 17831200 single base substitution G C intron_variant BRCA-EU 17 17831723 17831723 single base substitution G C intron_variant BRCA-EU 17 17831927 17831927 single base substitution G A intron_variant BRCA-EU 17 17833674 17833674 deletion of <=200bp A - intron_variant BRCA-EU 17 17834350 17834350 single base substitution C A intron_variant BRCA-EU 17 17836295 17836295 single base substitution C T intron_variant BRCA-EU 17 17837326 17837326 single base substitution T C intron_variant BRCA-EU 17 17840452 17840452 single base substitution G C intron_variant BRCA-EU 17 17842460 17842460 single base substitution A T intron_variant BRCA-EU 17 17843756 17843761 deletion of <=200bp GAATTT - intron_variant BRCA-EU 17 17845466 17845466 single base substitution A C intron_variant BRCA-EU 17 17846626 17846626 single base substitution C T intron_variant BRCA-EU 17 17847676 17847676 single base substitution C A intron_variant BRCA-EU 17 17848198 17848198 single base substitution T G intron_variant BRCA-EU 17 17850324 17850324 single base substitution C T intron_variant BRCA-EU 17 17850620 17850620 single base substitution G A intron_variant BRCA-EU 17 17851387 17851387 single base substitution A G intron_variant BRCA-EU 17 17853352 17853352 deletion of <=200bp T - intron_variant BRCA-EU 17 17856239 17856239 single base substitution G A intron_variant BRCA-EU 17 17856513 17856513 single base substitution G C intron_variant BRCA-EU 17 17857472 17857472 single base substitution G C intron_variant BRCA-EU 17 17860117 17860117 single base substitution C T intron_variant BRCA-EU 17 17861822 17861822 single base substitution G C intron_variant BRCA-EU 17 17864227 17864227 single base substitution A G intron_variant BRCA-EU 17 17864578 17864578 deletion of <=200bp A - intron_variant BRCA-EU 17 17866939 17866939 single base substitution A T intron_variant BRCA-EU 17 17870029 17870029 single base substitution C G intron_variant BRCA-EU 17 17870168 17870168 single base substitution C T intron_variant BRCA-EU 17 17871173 17871173 single base substitution C T intron_variant BRCA-EU 17 17873305 17873305 single base substitution C G intron_variant BRCA-EU 17 17876080 17876080 single base substitution C T upstream_gene_variant BRCA-EU 17 17876424 17876424 single base substitution T G upstream_gene_variant BRCA-EU 17 17876927 17876927 single base substitution T C upstream_gene_variant BRCA-EU 17 17878511 17878511 single base substitution C T upstream_gene_variant BRCA-EU 17 17879040 17879040 single base substitution C G upstream_gene_variant BRCA-EU 17 17879704 17879704 single base substitution C G upstream_gene_variant BRCA-EU 17 17880645 17880645 single base substitution G A upstream_gene_variant BRCA-FR 17 17744201 17744201 single base substitution G C downstream_gene_variant BRCA-FR 17 17744874 17744874 single base substitution C A downstream_gene_variant BRCA-FR 17 17745262 17745262 single base substitution T C downstream_gene_variant BRCA-FR 17 17745265 17745265 single base substitution T A downstream_gene_variant BRCA-FR 17 17751484 17751484 single base substitution G A intron_variant BRCA-FR 17 17762657 17762657 single base substitution G C downstream_gene_variant BRCA-FR 17 17762657 17762657 single base substitution G C intron_variant BRCA-FR 17 17768052 17768052 single base substitution C T downstream_gene_variant BRCA-FR 17 17768052 17768052 single base substitution C T intron_variant BRCA-FR 17 17768052 17768052 single base substitution C T upstream_gene_variant BRCA-FR 17 17793963 17793963 single base substitution G A downstream_gene_variant BRCA-FR 17 17793963 17793963 single base substitution G A intron_variant BRCA-FR 17 17796390 17796390 single base substitution G C downstream_gene_variant BRCA-FR 17 17796390 17796390 single base substitution G C intron_variant BRCA-FR 17 17801745 17801745 single base substitution A T intron_variant BRCA-FR 17 17822134 17822134 single base substitution C A intron_variant BRCA-FR 17 17826062 17826062 single base substitution A G intron_variant BRCA-FR 17 17826366 17826366 single base substitution G A intron_variant BRCA-FR 17 17826954 17826954 single base substitution T A intron_variant BRCA-FR 17 17842852 17842852 single base substitution G A intron_variant BRCA-FR 17 17879040 17879040 single base substitution C G upstream_gene_variant BRCA-UK 17 17767660 17767660 single base substitution G A downstream_gene_variant BRCA-UK 17 17767660 17767660 single base substitution G A intron_variant BRCA-UK 17 17767660 17767660 single base substitution G A upstream_gene_variant BRCA-UK 17 17776950 17776950 single base substitution G C intron_variant BRCA-UK 17 17776950 17776950 single base substitution G C upstream_gene_variant BRCA-UK 17 17794377 17794377 single base substitution C T downstream_gene_variant BRCA-UK 17 17794377 17794377 single base substitution C T intron_variant BRCA-UK 17 17803390 17803390 single base substitution G A intron_variant BRCA-UK 17 17816254 17816254 single base substitution T C intron_variant BRCA-UK 17 17823255 17823255 single base substitution G A intron_variant BRCA-UK 17 17823256 17823256 single base substitution A G intron_variant BRCA-UK 17 17845412 17845412 single base substitution G A intron_variant BRCA-US 17 17772753 17772753 single base substitution C T exon_variant BRCA-US 17 17772753 17772753 single base substitution C T missense_variant R123H 368G>A BRCA-US 17 17772753 17772753 single base substitution C T missense_variant R173H 518G>A BRCA-US 17 17772753 17772753 single base substitution C T missense_variant R218H 653G>A BRCA-US 17 17772753 17772753 single base substitution C T missense_variant R221H 662G>A BRCA-US 17 17772753 17772753 single base substitution C T missense_variant R226H 677G>A BRCA-US 17 17772753 17772753 single base substitution C T missense_variant R271H 812G>A BRCA-US 17 17772753 17772753 single base substitution C T missense_variant R4H 11G>A BRCA-US 17 17786097 17786097 single base substitution C T exon_variant BRCA-US 17 17786097 17786097 single base substitution C T intron_variant BRCA-US 17 17786097 17786097 single base substitution C T synonymous_variant S144S 432G>A BRCA-US 17 17786097 17786097 single base substitution C T synonymous_variant S149S 447G>A BRCA-US 17 17786097 17786097 single base substitution C T synonymous_variant S194S 582G>A BRCA-US 17 17786172 17786172 single base substitution G A exon_variant BRCA-US 17 17786172 17786172 single base substitution G A intron_variant BRCA-US 17 17786172 17786172 single base substitution G A synonymous_variant V119V 357C>T BRCA-US 17 17786172 17786172 single base substitution G A synonymous_variant V124V 372C>T BRCA-US 17 17786172 17786172 single base substitution G A synonymous_variant V169V 507C>T BTCA-JP 17 17750957 17750957 single base substitution C T exon_variant BTCA-JP 17 17750957 17750957 single base substitution C T missense_variant A239T 715G>A BTCA-JP 17 17750957 17750957 single base substitution C T missense_variant A387T 1159G>A BTCA-JP 17 17750957 17750957 single base substitution C T missense_variant A388T 1162G>A BTCA-JP 17 17750957 17750957 single base substitution C T missense_variant A456T 1366G>A BTCA-JP 17 17750957 17750957 single base substitution C T missense_variant A461T 1381G>A BTCA-JP 17 17750957 17750957 single base substitution C T missense_variant A482T 1444G>A BTCA-JP 17 17750957 17750957 single base substitution C T missense_variant A506T 1516G>A BTCA-JP 17 17766378 17766378 single base substitution A C downstream_gene_variant BTCA-JP 17 17766378 17766378 single base substitution A C intron_variant BTCA-JP 17 17766378 17766378 single base substitution A C upstream_gene_variant BTCA-JP 17 17770135 17770135 single base substitution C T downstream_gene_variant BTCA-JP 17 17770135 17770135 single base substitution C T intron_variant BTCA-JP 17 17770135 17770135 single base substitution C T upstream_gene_variant BTCA-JP 17 17782998 17782998 single base substitution C A exon_variant BTCA-JP 17 17782998 17782998 single base substitution C A missense_variant E142D 426G>T BTCA-JP 17 17782998 17782998 single base substitution C A missense_variant E187D 561G>T BTCA-JP 17 17782998 17782998 single base substitution C A missense_variant E190D 570G>T BTCA-JP 17 17782998 17782998 single base substitution C A missense_variant E195D 585G>T BTCA-JP 17 17782998 17782998 single base substitution C A missense_variant E240D 720G>T BTCA-JP 17 17782998 17782998 single base substitution C A missense_variant E92D 276G>T CESC-US 17 17772740 17772740 single base substitution G A exon_variant CESC-US 17 17772740 17772740 single base substitution G A synonymous_variant L127L 381C>T CESC-US 17 17772740 17772740 single base substitution G A synonymous_variant L177L 531C>T CESC-US 17 17772740 17772740 single base substitution G A synonymous_variant L222L 666C>T CESC-US 17 17772740 17772740 single base substitution G A synonymous_variant L225L 675C>T CESC-US 17 17772740 17772740 single base substitution G A synonymous_variant L230L 690C>T CESC-US 17 17772740 17772740 single base substitution G A synonymous_variant L275L 825C>T CESC-US 17 17772740 17772740 single base substitution G A synonymous_variant L8L 24C>T CESC-US 17 17801972 17801972 single base substitution G A exon_variant CESC-US 17 17801972 17801972 single base substitution G A stop_gained R19* 55C>T CESC-US 17 17801972 17801972 single base substitution G A stop_gained R52* 154C>T CLLE-ES 17 17829356 17829356 single base substitution G A intron_variant CLLE-ES 17 17830945 17830945 single base substitution A G intron_variant CLLE-ES 17 17877830 17877830 single base substitution C T upstream_gene_variant COAD-US 17 17750977 17750977 single base substitution C T exon_variant COAD-US 17 17750977 17750977 single base substitution C T missense_variant R232Q 695G>A COAD-US 17 17750977 17750977 single base substitution C T missense_variant R380Q 1139G>A COAD-US 17 17750977 17750977 single base substitution C T missense_variant R381Q 1142G>A COAD-US 17 17750977 17750977 single base substitution C T missense_variant R449Q 1346G>A COAD-US 17 17750977 17750977 single base substitution C T missense_variant R454Q 1361G>A COAD-US 17 17750977 17750977 single base substitution C T missense_variant R475Q 1424G>A COAD-US 17 17750977 17750977 single base substitution C T missense_variant R499Q 1496G>A COAD-US 17 17786141 17786141 single base substitution T C exon_variant COAD-US 17 17786141 17786141 single base substitution T C intron_variant COAD-US 17 17786141 17786141 single base substitution T C missense_variant R130G 388A>G COAD-US 17 17786141 17786141 single base substitution T C missense_variant R135G 403A>G COAD-US 17 17786141 17786141 single base substitution T C missense_variant R180G 538A>G COCA-CN 17 17751048 17751048 single base substitution G A exon_variant COCA-CN 17 17751048 17751048 single base substitution G A synonymous_variant P208P 624C>T COCA-CN 17 17751048 17751048 single base substitution G A synonymous_variant P356P 1068C>T COCA-CN 17 17751048 17751048 single base substitution G A synonymous_variant P357P 1071C>T COCA-CN 17 17751048 17751048 single base substitution G A synonymous_variant P425P 1275C>T COCA-CN 17 17751048 17751048 single base substitution G A synonymous_variant P430P 1290C>T COCA-CN 17 17751048 17751048 single base substitution G A synonymous_variant P451P 1353C>T COCA-CN 17 17751048 17751048 single base substitution G A synonymous_variant P475P 1425C>T COCA-CN 17 17758745 17758745 single base substitution C T intron_variant COCA-CN 17 17758745 17758745 single base substitution C T upstream_gene_variant COCA-CN 17 17778575 17778575 single base substitution G A intron_variant COCA-CN 17 17778575 17778575 single base substitution G A upstream_gene_variant COCA-CN 17 17787909 17787909 single base substitution G T intron_variant COCA-CN 17 17796897 17796897 single base substitution T G downstream_gene_variant COCA-CN 17 17796897 17796897 single base substitution T G intron_variant COCA-CN 17 17801949 17801949 single base substitution G A exon_variant COCA-CN 17 17801949 17801949 single base substitution G A synonymous_variant N26N 78C>T COCA-CN 17 17801949 17801949 single base substitution G A synonymous_variant N59N 177C>T COCA-CN 17 17810897 17810897 single base substitution C A intron_variant EOPC-DE 17 17762577 17762577 single base substitution T C downstream_gene_variant EOPC-DE 17 17762577 17762577 single base substitution T C intron_variant EOPC-DE 17 17875320 17875320 single base substitution A G intron_variant EOPC-DE 17 17878224 17878224 single base substitution C A upstream_gene_variant ESAD-UK 17 17756885 17756885 single base substitution G A intron_variant ESAD-UK 17 17756885 17756885 single base substitution G A upstream_gene_variant ESAD-UK 17 17757656 17757656 single base substitution G A intron_variant ESAD-UK 17 17757656 17757656 single base substitution G A upstream_gene_variant ESAD-UK 17 17758641 17758641 single base substitution C T intron_variant ESAD-UK 17 17758641 17758641 single base substitution C T upstream_gene_variant ESAD-UK 17 17761397 17761397 single base substitution C T downstream_gene_variant ESAD-UK 17 17761397 17761397 single base substitution C T intron_variant ESAD-UK 17 17762667 17762667 single base substitution G A downstream_gene_variant ESAD-UK 17 17762667 17762667 single base substitution G A intron_variant ESAD-UK 17 17764435 17764435 single base substitution T G downstream_gene_variant ESAD-UK 17 17764435 17764435 single base substitution T G intron_variant ESAD-UK 17 17769181 17769181 single base substitution C T downstream_gene_variant ESAD-UK 17 17769181 17769181 single base substitution C T intron_variant ESAD-UK 17 17769181 17769181 single base substitution C T upstream_gene_variant ESAD-UK 17 17769388 17769388 single base substitution C T downstream_gene_variant ESAD-UK 17 17769388 17769388 single base substitution C T intron_variant ESAD-UK 17 17769388 17769388 single base substitution C T upstream_gene_variant ESAD-UK 17 17772558 17772558 single base substitution C T exon_variant ESAD-UK 17 17772558 17772558 single base substitution C T intron_variant ESAD-UK 17 17773512 17773512 single base substitution G A intron_variant ESAD-UK 17 17776703 17776703 single base substitution C T intron_variant ESAD-UK 17 17776703 17776703 single base substitution C T upstream_gene_variant ESAD-UK 17 17776907 17776907 single base substitution A C intron_variant ESAD-UK 17 17776907 17776907 single base substitution A C upstream_gene_variant ESAD-UK 17 17779704 17779704 single base substitution C G intron_variant ESAD-UK 17 17779704 17779704 single base substitution C G upstream_gene_variant ESAD-UK 17 17785473 17785473 single base substitution C T intron_variant ESAD-UK 17 17787068 17787068 single base substitution T A intron_variant ESAD-UK 17 17791115 17791115 single base substitution C A intron_variant ESAD-UK 17 17791227 17791227 single base substitution G A intron_variant ESAD-UK 17 17791693 17791693 single base substitution C T intron_variant ESAD-UK 17 17797950 17797950 single base substitution C T intron_variant ESAD-UK 17 17801530 17801530 single base substitution G A intron_variant ESAD-UK 17 17804712 17804712 single base substitution C G intron_variant ESAD-UK 17 17811129 17811129 single base substitution A T intron_variant ESAD-UK 17 17818861 17818861 single base substitution A G intron_variant ESAD-UK 17 17819716 17819716 single base substitution G T intron_variant ESAD-UK 17 17823036 17823036 single base substitution T A intron_variant ESAD-UK 17 17826339 17826340 deletion of <=200bp AA - intron_variant ESAD-UK 17 17826400 17826400 insertion of <=200bp - GA intron_variant ESAD-UK 17 17826646 17826646 single base substitution T G intron_variant ESAD-UK 17 17831033 17831033 single base substitution A G intron_variant ESAD-UK 17 17831701 17831701 single base substitution C A intron_variant ESAD-UK 17 17831701 17831701 single base substitution C T intron_variant ESAD-UK 17 17831895 17831895 single base substitution G A intron_variant ESAD-UK 17 17833759 17833759 single base substitution C T intron_variant ESAD-UK 17 17834429 17834429 single base substitution G T intron_variant ESAD-UK 17 17834477 17834477 single base substitution C A intron_variant ESAD-UK 17 17838273 17838273 single base substitution C T intron_variant ESAD-UK 17 17838928 17838928 single base substitution C A intron_variant ESAD-UK 17 17847314 17847314 single base substitution T G intron_variant ESAD-UK 17 17848089 17848089 single base substitution G T intron_variant ESAD-UK 17 17848141 17848143 deletion of <=200bp GAG - intron_variant ESAD-UK 17 17854265 17854265 single base substitution C T intron_variant ESAD-UK 17 17857455 17857455 single base substitution C G intron_variant ESAD-UK 17 17858613 17858613 single base substitution C T intron_variant ESAD-UK 17 17859686 17859686 single base substitution C T intron_variant ESAD-UK 17 17863062 17863062 single base substitution G A intron_variant ESAD-UK 17 17864718 17864718 insertion of <=200bp - A intron_variant ESAD-UK 17 17865779 17865779 single base substitution G T intron_variant ESAD-UK 17 17866746 17866746 single base substitution C T intron_variant ESAD-UK 17 17870922 17870922 single base substitution C T intron_variant ESAD-UK 17 17871224 17871224 single base substitution T C intron_variant ESAD-UK 17 17872684 17872684 single base substitution T G intron_variant ESAD-UK 17 17876244 17876244 single base substitution A G upstream_gene_variant ESAD-UK 17 17877582 17877582 deletion of <=200bp T - upstream_gene_variant KIRC-US 17 17769632 17769632 single base substitution G T downstream_gene_variant KIRC-US 17 17769632 17769632 single base substitution G T exon_variant KIRC-US 17 17769632 17769632 single base substitution G T synonymous_variant L206L 618C>A KIRC-US 17 17769632 17769632 single base substitution G T synonymous_variant L256L 768C>A KIRC-US 17 17769632 17769632 single base substitution G T synonymous_variant L301L 903C>A KIRC-US 17 17769632 17769632 single base substitution G T synonymous_variant L304L 912C>A KIRC-US 17 17769632 17769632 single base substitution G T synonymous_variant L309L 927C>A KIRC-US 17 17769632 17769632 single base substitution G T synonymous_variant L354L 1062C>A KIRC-US 17 17769632 17769632 single base substitution G T synonymous_variant L87L 261C>A KIRC-US 17 17769632 17769632 single base substitution G T upstream_gene_variant KIRC-US 17 17772713 17772713 single base substitution G A exon_variant KIRC-US 17 17772713 17772713 single base substitution G A synonymous_variant V136V 408C>T KIRC-US 17 17772713 17772713 single base substitution G A synonymous_variant V17V 51C>T KIRC-US 17 17772713 17772713 single base substitution G A synonymous_variant V186V 558C>T KIRC-US 17 17772713 17772713 single base substitution G A synonymous_variant V231V 693C>T KIRC-US 17 17772713 17772713 single base substitution G A synonymous_variant V234V 702C>T KIRC-US 17 17772713 17772713 single base substitution G A synonymous_variant V239V 717C>T KIRC-US 17 17772713 17772713 single base substitution G A synonymous_variant V284V 852C>T KIRC-US 17 17810782 17810782 single base substitution A G exon_variant KIRC-US 17 17810782 17810782 single base substitution A G missense_variant I39T 116T>C KIRC-US 17 17810782 17810782 single base substitution A G missense_variant I6T 17T>C KIRC-US 17 17810845 17810845 single base substitution T A missense_variant E18V 53A>T KIRC-US 17 17810845 17810845 single base substitution T A splice_region_variant LAML-KR 17 17769125 17769125 single base substitution A C downstream_gene_variant LAML-KR 17 17769125 17769125 single base substitution A C intron_variant LAML-KR 17 17769125 17769125 single base substitution A C upstream_gene_variant LAML-KR 17 17783188 17783188 single base substitution T C intron_variant LAML-KR 17 17815309 17815309 single base substitution C A intron_variant LAML-KR 17 17815463 17815463 single base substitution G C intron_variant LAML-KR 17 17815542 17815542 single base substitution C T intron_variant LAML-KR 17 17815684 17815684 single base substitution A G intron_variant LAML-KR 17 17826346 17826346 single base substitution G C intron_variant LICA-CN 17 17766145 17766145 single base substitution C A downstream_gene_variant LICA-CN 17 17766145 17766145 single base substitution C A missense_variant V101F 301G>T LICA-CN 17 17766145 17766145 single base substitution C A missense_variant V220F 658G>T LICA-CN 17 17766145 17766145 single base substitution C A missense_variant V270F 808G>T LICA-CN 17 17766145 17766145 single base substitution C A missense_variant V315F 943G>T LICA-CN 17 17766145 17766145 single base substitution C A missense_variant V318F 952G>T LICA-CN 17 17766145 17766145 single base substitution C A missense_variant V323F 967G>T LICA-CN 17 17766145 17766145 single base substitution C A missense_variant V368F 1102G>T LICA-CN 17 17766145 17766145 single base substitution C A upstream_gene_variant LICA-CN 17 17801916 17801916 single base substitution T A exon_variant LICA-CN 17 17801916 17801916 single base substitution T A synonymous_variant A37A 111A>T LICA-CN 17 17801916 17801916 single base substitution T A synonymous_variant A70A 210A>T LICA-FR 17 17767527 17767527 insertion of <=200bp - T downstream_gene_variant LICA-FR 17 17767527 17767527 insertion of <=200bp - T intron_variant LICA-FR 17 17767527 17767527 insertion of <=200bp - T upstream_gene_variant LICA-FR 17 17815861 17815861 single base substitution G A intron_variant LICA-FR 17 17857752 17857752 single base substitution T A intron_variant LIHC-US 17 17801962 17801962 single base substitution T C exon_variant LIHC-US 17 17801962 17801962 single base substitution T C missense_variant K22R 65A>G LIHC-US 17 17801962 17801962 single base substitution T C missense_variant K55R 164A>G LINC-JP 17 17761291 17761314 deletion of <=200bp CCCAACCTCCACCCCAGCACGTCC - downstream_gene_variant LINC-JP 17 17761291 17761314 deletion of <=200bp CCCAACCTCCACCCCAGCACGTCC - intron_variant LINC-JP 17 17766378 17766378 single base substitution A C downstream_gene_variant LINC-JP 17 17766378 17766378 single base substitution A C intron_variant LINC-JP 17 17766378 17766378 single base substitution A C upstream_gene_variant LINC-JP 17 17768143 17768143 single base substitution A T downstream_gene_variant LINC-JP 17 17768143 17768143 single base substitution A T intron_variant LINC-JP 17 17768143 17768143 single base substitution A T upstream_gene_variant LINC-JP 17 17769056 17769056 single base substitution C T downstream_gene_variant LINC-JP 17 17769056 17769056 single base substitution C T intron_variant LINC-JP 17 17769056 17769056 single base substitution C T upstream_gene_variant LINC-JP 17 17781192 17781192 deletion of <=200bp A - intron_variant LINC-JP 17 17786440 17786440 single base substitution C G intron_variant LINC-JP 17 17813214 17813214 single base substitution G T intron_variant LINC-JP 17 17864148 17864148 single base substitution C A intron_variant LINC-JP 17 17867699 17867699 single base substitution A T intron_variant LINC-JP 17 17872079 17872079 single base substitution C T intron_variant LIRI-JP 17 17742590 17742590 single base substitution G C downstream_gene_variant LIRI-JP 17 17755092 17755092 single base substitution C G intron_variant LIRI-JP 17 17755092 17755092 single base substitution C G upstream_gene_variant LIRI-JP 17 17756756 17756756 single base substitution C T intron_variant LIRI-JP 17 17756756 17756756 single base substitution C T upstream_gene_variant LIRI-JP 17 17758074 17758074 single base substitution C A intron_variant LIRI-JP 17 17758074 17758074 single base substitution C A upstream_gene_variant LIRI-JP 17 17764344 17764344 single base substitution T C downstream_gene_variant LIRI-JP 17 17764344 17764344 single base substitution T C intron_variant LIRI-JP 17 17768656 17768656 single base substitution A G downstream_gene_variant LIRI-JP 17 17768656 17768656 single base substitution A G intron_variant LIRI-JP 17 17768656 17768656 single base substitution A G upstream_gene_variant LIRI-JP 17 17774882 17774882 single base substitution G C intron_variant LIRI-JP 17 17778672 17778672 single base substitution T C intron_variant LIRI-JP 17 17778672 17778672 single base substitution T C upstream_gene_variant LIRI-JP 17 17778698 17778698 single base substitution G A intron_variant LIRI-JP 17 17778698 17778698 single base substitution G A upstream_gene_variant LIRI-JP 17 17779754 17779754 single base substitution T C intron_variant LIRI-JP 17 17779754 17779754 single base substitution T C upstream_gene_variant LIRI-JP 17 17782292 17782292 single base substitution C T intron_variant LIRI-JP 17 17785600 17785600 single base substitution T C intron_variant LIRI-JP 17 17788258 17788258 single base substitution T C intron_variant LIRI-JP 17 17790608 17790608 single base substitution C G intron_variant LIRI-JP 17 17791766 17791766 single base substitution T A intron_variant LIRI-JP 17 17792499 17792499 single base substitution T G downstream_gene_variant LIRI-JP 17 17792499 17792499 single base substitution T G intron_variant LIRI-JP 17 17795404 17795404 single base substitution T C downstream_gene_variant LIRI-JP 17 17795404 17795404 single base substitution T C intron_variant LIRI-JP 17 17797731 17797731 single base substitution C T intron_variant LIRI-JP 17 17799097 17799097 single base substitution T C intron_variant LIRI-JP 17 17800241 17800241 single base substitution G A intron_variant LIRI-JP 17 17802363 17802363 single base substitution T A intron_variant LIRI-JP 17 17802900 17802900 single base substitution T G intron_variant LIRI-JP 17 17802918 17802918 single base substitution C G intron_variant LIRI-JP 17 17807976 17807976 deletion of <=200bp A - intron_variant LIRI-JP 17 17810493 17810493 single base substitution A G intron_variant LIRI-JP 17 17810501 17810501 single base substitution A G intron_variant LIRI-JP 17 17810508 17810508 single base substitution T C intron_variant LIRI-JP 17 17810557 17810557 single base substitution T A intron_variant LIRI-JP 17 17814622 17814622 single base substitution T A intron_variant LIRI-JP 17 17814724 17814724 single base substitution C T intron_variant LIRI-JP 17 17819746 17819746 single base substitution G T intron_variant LIRI-JP 17 17820890 17820890 single base substitution T A intron_variant LIRI-JP 17 17822927 17822927 single base substitution T C intron_variant LIRI-JP 17 17823280 17823280 single base substitution C T intron_variant LIRI-JP 17 17826329 17826329 single base substitution A C intron_variant LIRI-JP 17 17835452 17835452 single base substitution T C intron_variant LIRI-JP 17 17838299 17838299 single base substitution G C intron_variant LIRI-JP 17 17840507 17840507 single base substitution T A intron_variant LIRI-JP 17 17841762 17841762 single base substitution G A intron_variant LIRI-JP 17 17841884 17841884 single base substitution A C intron_variant LIRI-JP 17 17843856 17843856 single base substitution A C intron_variant LIRI-JP 17 17847741 17847741 single base substitution G A intron_variant LIRI-JP 17 17848366 17848366 single base substitution A T intron_variant LIRI-JP 17 17851117 17851117 single base substitution T C intron_variant LIRI-JP 17 17856290 17856290 single base substitution T C intron_variant LIRI-JP 17 17858230 17858230 single base substitution C T intron_variant LIRI-JP 17 17858231 17858231 single base substitution A G intron_variant LIRI-JP 17 17860680 17860680 single base substitution T C intron_variant LIRI-JP 17 17860751 17860751 single base substitution G A intron_variant LIRI-JP 17 17867837 17867837 single base substitution T G intron_variant LIRI-JP 17 17868350 17868350 single base substitution G A intron_variant LIRI-JP 17 17870373 17870373 single base substitution T A intron_variant LIRI-JP 17 17872082 17872082 single base substitution T G intron_variant LIRI-JP 17 17875702 17875702 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 17 17875702 17875702 single base substitution C A exon_variant LIRI-JP 17 17877879 17877879 single base substitution T C upstream_gene_variant LUSC-KR 17 17747547 17747547 single base substitution T C 3_prime_UTR_variant LUSC-KR 17 17747547 17747547 single base substitution T C downstream_gene_variant LUSC-KR 17 17750108 17750108 single base substitution T C 3_prime_UTR_variant LUSC-KR 17 17750108 17750108 single base substitution T C downstream_gene_variant LUSC-KR 17 17757067 17757067 single base substitution C A intron_variant LUSC-KR 17 17757067 17757067 single base substitution C A upstream_gene_variant LUSC-KR 17 17762081 17762081 single base substitution G C downstream_gene_variant LUSC-KR 17 17762081 17762081 single base substitution G C intron_variant LUSC-KR 17 17762177 17762177 single base substitution G C downstream_gene_variant LUSC-KR 17 17762177 17762177 single base substitution G C intron_variant LUSC-KR 17 17763949 17763949 single base substitution G A downstream_gene_variant LUSC-KR 17 17763949 17763949 single base substitution G A intron_variant LUSC-KR 17 17764235 17764235 single base substitution C A downstream_gene_variant LUSC-KR 17 17764235 17764235 single base substitution C A intron_variant LUSC-KR 17 17769050 17769050 single base substitution A C downstream_gene_variant LUSC-KR 17 17769050 17769050 single base substitution A C intron_variant LUSC-KR 17 17769050 17769050 single base substitution A C upstream_gene_variant LUSC-KR 17 17769077 17769077 single base substitution G T downstream_gene_variant LUSC-KR 17 17769077 17769077 single base substitution G T intron_variant LUSC-KR 17 17769077 17769077 single base substitution G T upstream_gene_variant LUSC-KR 17 17770337 17770337 single base substitution A C downstream_gene_variant LUSC-KR 17 17770337 17770337 single base substitution A C intron_variant LUSC-KR 17 17770337 17770337 single base substitution A C upstream_gene_variant LUSC-KR 17 17777454 17777454 single base substitution G C intron_variant LUSC-KR 17 17777454 17777454 single base substitution G C upstream_gene_variant LUSC-KR 17 17777919 17777919 single base substitution G C intron_variant LUSC-KR 17 17777919 17777919 single base substitution G C upstream_gene_variant LUSC-KR 17 17782605 17782605 single base substitution C G intron_variant LUSC-KR 17 17783970 17783970 single base substitution A T intron_variant LUSC-KR 17 17787942 17787942 single base substitution G A intron_variant LUSC-KR 17 17787942 17787942 single base substitution G A splice_region_variant LUSC-KR 17 17801561 17801561 single base substitution G A intron_variant LUSC-KR 17 17801569 17801569 single base substitution G A intron_variant LUSC-KR 17 17801609 17801609 single base substitution G C intron_variant LUSC-KR 17 17801752 17801752 single base substitution A C intron_variant LUSC-KR 17 17804615 17804615 single base substitution T C intron_variant LUSC-KR 17 17805302 17805302 single base substitution C A intron_variant LUSC-KR 17 17810081 17810081 single base substitution G A intron_variant LUSC-KR 17 17815165 17815165 single base substitution C T intron_variant LUSC-KR 17 17815277 17815277 single base substitution G C intron_variant LUSC-KR 17 17815340 17815340 single base substitution C G intron_variant LUSC-KR 17 17815542 17815542 single base substitution C T intron_variant LUSC-KR 17 17815546 17815546 single base substitution T C intron_variant LUSC-KR 17 17815570 17815570 single base substitution C G intron_variant LUSC-KR 17 17815571 17815571 single base substitution G A intron_variant LUSC-KR 17 17815623 17815623 single base substitution C T intron_variant LUSC-KR 17 17815635 17815635 single base substitution C T intron_variant LUSC-KR 17 17815664 17815664 single base substitution G A intron_variant LUSC-KR 17 17815670 17815670 single base substitution G A intron_variant LUSC-KR 17 17815684 17815684 single base substitution A G intron_variant LUSC-KR 17 17819810 17819810 single base substitution A T intron_variant LUSC-KR 17 17821751 17821751 single base substitution C A intron_variant LUSC-KR 17 17876141 17876141 single base substitution G C upstream_gene_variant LUSC-KR 17 17876217 17876217 single base substitution G A upstream_gene_variant LUSC-KR 17 17878020 17878020 single base substitution T G upstream_gene_variant LUSC-KR 17 17879518 17879518 single base substitution G T upstream_gene_variant MALY-DE 17 17754806 17754806 single base substitution G T intron_variant MALY-DE 17 17754806 17754806 single base substitution G T upstream_gene_variant MALY-DE 17 17761520 17761520 single base substitution T A downstream_gene_variant MALY-DE 17 17761520 17761520 single base substitution T A intron_variant MALY-DE 17 17768713 17768713 single base substitution T G downstream_gene_variant MALY-DE 17 17768713 17768713 single base substitution T G intron_variant MALY-DE 17 17768713 17768713 single base substitution T G upstream_gene_variant MALY-DE 17 17769006 17769006 single base substitution T A downstream_gene_variant MALY-DE 17 17769006 17769006 single base substitution T A intron_variant MALY-DE 17 17769006 17769006 single base substitution T A upstream_gene_variant MALY-DE 17 17772073 17772073 single base substitution C A downstream_gene_variant MALY-DE 17 17772073 17772073 single base substitution C A intron_variant MALY-DE 17 17772221 17772221 single base substitution C A downstream_gene_variant MALY-DE 17 17772221 17772221 single base substitution C A intron_variant MALY-DE 17 17773906 17773906 single base substitution C T intron_variant MALY-DE 17 17786235 17786235 single base substitution G T intron_variant MALY-DE 17 17789467 17789467 single base substitution T A intron_variant MALY-DE 17 17795099 17795100 deletion of <=200bp GT - downstream_gene_variant MALY-DE 17 17795099 17795100 deletion of <=200bp GT - intron_variant MALY-DE 17 17798285 17798285 single base substitution A G intron_variant MALY-DE 17 17809308 17809308 single base substitution T G intron_variant MALY-DE 17 17810929 17810929 single base substitution C T intron_variant MALY-DE 17 17814030 17814030 single base substitution C T intron_variant MALY-DE 17 17816555 17816555 insertion of <=200bp - GAGAGGGAGA intron_variant MALY-DE 17 17819506 17819506 single base substitution G C intron_variant MALY-DE 17 17822269 17822269 single base substitution C T intron_variant MALY-DE 17 17834887 17834887 single base substitution G A intron_variant MALY-DE 17 17839361 17839361 single base substitution G A intron_variant MALY-DE 17 17840324 17840324 single base substitution G A intron_variant MALY-DE 17 17851141 17851141 single base substitution A C intron_variant MALY-DE 17 17865439 17865439 single base substitution A C intron_variant MALY-DE 17 17878628 17878628 single base substitution C T upstream_gene_variant MELA-AU 17 17741965 17741965 single base substitution C T downstream_gene_variant MELA-AU 17 17743180 17743180 single base substitution G A downstream_gene_variant MELA-AU 17 17744766 17744766 single base substitution G A downstream_gene_variant MELA-AU 17 17746720 17746720 single base substitution G A downstream_gene_variant MELA-AU 17 17747090 17747090 single base substitution G A 3_prime_UTR_variant MELA-AU 17 17747090 17747090 single base substitution G A downstream_gene_variant MELA-AU 17 17747242 17747242 single base substitution G T 3_prime_UTR_variant MELA-AU 17 17747242 17747242 single base substitution G T downstream_gene_variant MELA-AU 17 17748279 17748279 single base substitution G A 3_prime_UTR_variant MELA-AU 17 17748279 17748279 single base substitution G A downstream_gene_variant MELA-AU 17 17748785 17748785 single base substitution G A 3_prime_UTR_variant MELA-AU 17 17748785 17748785 single base substitution G A downstream_gene_variant MELA-AU 17 17749061 17749061 single base substitution C T 3_prime_UTR_variant MELA-AU 17 17749061 17749061 single base substitution C T downstream_gene_variant MELA-AU 17 17749341 17749341 single base substitution G A 3_prime_UTR_variant MELA-AU 17 17749341 17749341 single base substitution G A downstream_gene_variant MELA-AU 17 17749526 17749526 single base substitution C G 3_prime_UTR_variant MELA-AU 17 17749526 17749526 single base substitution C G downstream_gene_variant MELA-AU 17 17749535 17749535 single base substitution G A 3_prime_UTR_variant MELA-AU 17 17749535 17749535 single base substitution G A downstream_gene_variant MELA-AU 17 17750728 17750728 single base substitution G A 3_prime_UTR_variant MELA-AU 17 17750728 17750728 single base substitution G A downstream_gene_variant MELA-AU 17 17750728 17750728 single base substitution G A exon_variant MELA-AU 17 17751120 17751120 single base substitution G A intron_variant MELA-AU 17 17751412 17751412 single base substitution G A intron_variant MELA-AU 17 17751440 17751440 single base substitution G A intron_variant MELA-AU 17 17751550 17751551 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 17751637 17751637 single base substitution G A intron_variant MELA-AU 17 17752932 17752932 single base substitution G A intron_variant MELA-AU 17 17752932 17752932 single base substitution G A upstream_gene_variant MELA-AU 17 17753684 17753684 single base substitution G A intron_variant MELA-AU 17 17753684 17753684 single base substitution G A upstream_gene_variant MELA-AU 17 17754341 17754341 single base substitution G A exon_variant MELA-AU 17 17754341 17754341 single base substitution G A intron_variant MELA-AU 17 17754341 17754341 single base substitution G A upstream_gene_variant MELA-AU 17 17755216 17755216 single base substitution G A intron_variant MELA-AU 17 17755216 17755216 single base substitution G A upstream_gene_variant MELA-AU 17 17755476 17755476 single base substitution G A intron_variant MELA-AU 17 17755476 17755476 single base substitution G A upstream_gene_variant MELA-AU 17 17757048 17757048 single base substitution G A intron_variant MELA-AU 17 17757048 17757048 single base substitution G A upstream_gene_variant MELA-AU 17 17757085 17757085 single base substitution G A intron_variant MELA-AU 17 17757085 17757085 single base substitution G A upstream_gene_variant MELA-AU 17 17757680 17757680 single base substitution C T intron_variant MELA-AU 17 17757680 17757680 single base substitution C T upstream_gene_variant MELA-AU 17 17757847 17757847 single base substitution A T intron_variant MELA-AU 17 17757847 17757847 single base substitution A T upstream_gene_variant MELA-AU 17 17758417 17758417 single base substitution G A intron_variant MELA-AU 17 17758417 17758417 single base substitution G A upstream_gene_variant MELA-AU 17 17758822 17758822 single base substitution G A intron_variant MELA-AU 17 17758822 17758822 single base substitution G A upstream_gene_variant MELA-AU 17 17758910 17758910 single base substitution C T intron_variant MELA-AU 17 17758910 17758910 single base substitution C T upstream_gene_variant MELA-AU 17 17760483 17760483 single base substitution G A downstream_gene_variant MELA-AU 17 17760483 17760483 single base substitution G A intron_variant MELA-AU 17 17760933 17760933 single base substitution G A downstream_gene_variant MELA-AU 17 17760933 17760933 single base substitution G A intron_variant MELA-AU 17 17762165 17762165 single base substitution G A downstream_gene_variant MELA-AU 17 17762165 17762165 single base substitution G A intron_variant MELA-AU 17 17762392 17762392 single base substitution T C downstream_gene_variant MELA-AU 17 17762392 17762392 single base substitution T C intron_variant MELA-AU 17 17762971 17762971 single base substitution G A downstream_gene_variant MELA-AU 17 17762971 17762971 single base substitution G A intron_variant MELA-AU 17 17762987 17762987 single base substitution G A downstream_gene_variant MELA-AU 17 17762987 17762987 single base substitution G A intron_variant MELA-AU 17 17763246 17763246 single base substitution G A downstream_gene_variant MELA-AU 17 17763246 17763246 single base substitution G A intron_variant MELA-AU 17 17763260 17763260 single base substitution G A downstream_gene_variant MELA-AU 17 17763260 17763260 single base substitution G A intron_variant MELA-AU 17 17763672 17763672 single base substitution G A downstream_gene_variant MELA-AU 17 17763672 17763672 single base substitution G A intron_variant MELA-AU 17 17763700 17763700 single base substitution C T downstream_gene_variant MELA-AU 17 17763700 17763700 single base substitution C T intron_variant MELA-AU 17 17763810 17763810 single base substitution G A downstream_gene_variant MELA-AU 17 17763810 17763810 single base substitution G A intron_variant MELA-AU 17 17763835 17763835 single base substitution G A downstream_gene_variant MELA-AU 17 17763835 17763835 single base substitution G A intron_variant MELA-AU 17 17764364 17764364 single base substitution G A downstream_gene_variant MELA-AU 17 17764364 17764364 single base substitution G A intron_variant MELA-AU 17 17764551 17764551 single base substitution G A downstream_gene_variant MELA-AU 17 17764551 17764551 single base substitution G A intron_variant MELA-AU 17 17764950 17764950 single base substitution A G downstream_gene_variant MELA-AU 17 17764950 17764950 single base substitution A G intron_variant MELA-AU 17 17765059 17765059 single base substitution G A downstream_gene_variant MELA-AU 17 17765059 17765059 single base substitution G A intron_variant MELA-AU 17 17765309 17765309 single base substitution G A 3_prime_UTR_variant MELA-AU 17 17765309 17765309 single base substitution G A downstream_gene_variant MELA-AU 17 17765309 17765309 single base substitution G A intron_variant MELA-AU 17 17766284 17766284 single base substitution G A downstream_gene_variant MELA-AU 17 17766284 17766284 single base substitution G A intron_variant MELA-AU 17 17766284 17766284 single base substitution G A upstream_gene_variant MELA-AU 17 17767005 17767005 single base substitution G A intron_variant MELA-AU 17 17767005 17767005 single base substitution G A upstream_gene_variant MELA-AU 17 17767228 17767228 single base substitution T C intron_variant MELA-AU 17 17767228 17767228 single base substitution T C upstream_gene_variant MELA-AU 17 17767505 17767505 single base substitution G A downstream_gene_variant MELA-AU 17 17767505 17767505 single base substitution G A intron_variant MELA-AU 17 17767505 17767505 single base substitution G A upstream_gene_variant MELA-AU 17 17767686 17767686 single base substitution G A downstream_gene_variant MELA-AU 17 17767686 17767686 single base substitution G A intron_variant MELA-AU 17 17767686 17767686 single base substitution G A upstream_gene_variant MELA-AU 17 17768632 17768632 single base substitution C T downstream_gene_variant MELA-AU 17 17768632 17768632 single base substitution C T intron_variant MELA-AU 17 17768632 17768632 single base substitution C T upstream_gene_variant MELA-AU 17 17768716 17768716 single base substitution G A downstream_gene_variant MELA-AU 17 17768716 17768716 single base substitution G A intron_variant MELA-AU 17 17768716 17768716 single base substitution G A upstream_gene_variant MELA-AU 17 17768746 17768746 single base substitution A C downstream_gene_variant MELA-AU 17 17768746 17768746 single base substitution A C intron_variant MELA-AU 17 17768746 17768746 single base substitution A C upstream_gene_variant MELA-AU 17 17769042 17769042 single base substitution G A downstream_gene_variant MELA-AU 17 17769042 17769042 single base substitution G A intron_variant MELA-AU 17 17769042 17769042 single base substitution G A upstream_gene_variant MELA-AU 17 17769194 17769194 single base substitution G A downstream_gene_variant MELA-AU 17 17769194 17769194 single base substitution G A intron_variant MELA-AU 17 17769194 17769194 single base substitution G A upstream_gene_variant MELA-AU 17 17769431 17769432 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 17769431 17769432 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 17769431 17769432 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 17769517 17769517 single base substitution C T downstream_gene_variant MELA-AU 17 17769517 17769517 single base substitution C T intron_variant MELA-AU 17 17769517 17769517 single base substitution C T upstream_gene_variant MELA-AU 17 17771133 17771133 single base substitution G A downstream_gene_variant MELA-AU 17 17771133 17771133 single base substitution G A intron_variant MELA-AU 17 17771177 17771177 single base substitution G A downstream_gene_variant MELA-AU 17 17771177 17771177 single base substitution G A intron_variant MELA-AU 17 17771862 17771862 single base substitution G A downstream_gene_variant MELA-AU 17 17771862 17771862 single base substitution G A intron_variant MELA-AU 17 17772040 17772040 single base substitution G T downstream_gene_variant MELA-AU 17 17772040 17772040 single base substitution G T intron_variant MELA-AU 17 17772200 17772200 single base substitution G A downstream_gene_variant MELA-AU 17 17772200 17772200 single base substitution G A intron_variant MELA-AU 17 17772237 17772237 single base substitution G A downstream_gene_variant MELA-AU 17 17772237 17772237 single base substitution G A intron_variant MELA-AU 17 17773512 17773512 single base substitution G A intron_variant MELA-AU 17 17773518 17773518 single base substitution G A intron_variant MELA-AU 17 17774553 17774553 single base substitution C T intron_variant MELA-AU 17 17774632 17774632 single base substitution C T intron_variant MELA-AU 17 17774968 17774968 single base substitution G A intron_variant MELA-AU 17 17775338 17775338 single base substitution G A 5_prime_UTR_variant MELA-AU 17 17775338 17775338 single base substitution G A exon_variant MELA-AU 17 17775338 17775338 single base substitution G A intron_variant MELA-AU 17 17776059 17776059 single base substitution G A intron_variant MELA-AU 17 17776059 17776059 single base substitution G A upstream_gene_variant MELA-AU 17 17776848 17776848 single base substitution G A intron_variant MELA-AU 17 17776848 17776848 single base substitution G A upstream_gene_variant MELA-AU 17 17777073 17777073 single base substitution C T intron_variant MELA-AU 17 17777073 17777073 single base substitution C T upstream_gene_variant MELA-AU 17 17777454 17777454 single base substitution G A intron_variant MELA-AU 17 17777454 17777454 single base substitution G A upstream_gene_variant MELA-AU 17 17778192 17778192 single base substitution G A intron_variant MELA-AU 17 17778192 17778192 single base substitution G A upstream_gene_variant MELA-AU 17 17778280 17778280 single base substitution G A intron_variant MELA-AU 17 17778280 17778280 single base substitution G A upstream_gene_variant MELA-AU 17 17778280 17778281 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 17778280 17778281 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 17778784 17778784 single base substitution A G intron_variant MELA-AU 17 17778784 17778784 single base substitution A G upstream_gene_variant MELA-AU 17 17778795 17778795 single base substitution G A intron_variant MELA-AU 17 17778795 17778795 single base substitution G A upstream_gene_variant MELA-AU 17 17778847 17778847 single base substitution G A intron_variant MELA-AU 17 17778847 17778847 single base substitution G A upstream_gene_variant MELA-AU 17 17779106 17779106 single base substitution G A intron_variant MELA-AU 17 17779106 17779106 single base substitution G A upstream_gene_variant MELA-AU 17 17779152 17779152 single base substitution G A intron_variant MELA-AU 17 17779152 17779152 single base substitution G A upstream_gene_variant MELA-AU 17 17779330 17779330 single base substitution C T intron_variant MELA-AU 17 17779330 17779330 single base substitution C T upstream_gene_variant MELA-AU 17 17779998 17779998 single base substitution G A intron_variant MELA-AU 17 17779998 17779998 single base substitution G A upstream_gene_variant MELA-AU 17 17780250 17780250 single base substitution A G intron_variant MELA-AU 17 17780250 17780250 single base substitution A G upstream_gene_variant MELA-AU 17 17780558 17780558 single base substitution G A intron_variant MELA-AU 17 17781114 17781114 single base substitution G A intron_variant MELA-AU 17 17781601 17781601 single base substitution G A intron_variant MELA-AU 17 17781735 17781735 single base substitution G A intron_variant MELA-AU 17 17782389 17782389 single base substitution G A intron_variant MELA-AU 17 17782455 17782455 single base substitution G A intron_variant MELA-AU 17 17783323 17783323 single base substitution G A intron_variant MELA-AU 17 17783530 17783530 single base substitution T G intron_variant MELA-AU 17 17783607 17783607 single base substitution G A intron_variant MELA-AU 17 17783651 17783651 single base substitution G A intron_variant MELA-AU 17 17783814 17783814 single base substitution C T intron_variant MELA-AU 17 17783867 17783867 single base substitution C T intron_variant MELA-AU 17 17785975 17785975 single base substitution G A intron_variant MELA-AU 17 17786419 17786419 single base substitution G A intron_variant MELA-AU 17 17787288 17787288 single base substitution G A intron_variant MELA-AU 17 17787968 17787968 single base substitution G A exon_variant MELA-AU 17 17787968 17787968 single base substitution G A intron_variant MELA-AU 17 17787968 17787968 single base substitution G A missense_variant P111S 331C>T MELA-AU 17 17787968 17787968 single base substitution G A missense_variant P161S 481C>T MELA-AU 17 17788823 17788823 single base substitution G A intron_variant MELA-AU 17 17788884 17788884 single base substitution G A intron_variant MELA-AU 17 17789371 17789371 single base substitution G A intron_variant MELA-AU 17 17789917 17789917 single base substitution G A intron_variant MELA-AU 17 17790074 17790074 single base substitution C T intron_variant MELA-AU 17 17790925 17790925 single base substitution G A intron_variant MELA-AU 17 17791067 17791067 single base substitution G A intron_variant MELA-AU 17 17791107 17791107 single base substitution G A intron_variant MELA-AU 17 17791153 17791153 single base substitution A G intron_variant MELA-AU 17 17791288 17791288 single base substitution G A intron_variant MELA-AU 17 17791554 17791554 single base substitution G A intron_variant MELA-AU 17 17791803 17791803 single base substitution C T intron_variant MELA-AU 17 17792600 17792600 single base substitution G A downstream_gene_variant MELA-AU 17 17792600 17792600 single base substitution G A intron_variant MELA-AU 17 17792709 17792709 single base substitution G A downstream_gene_variant MELA-AU 17 17792709 17792709 single base substitution G A intron_variant MELA-AU 17 17793912 17793912 single base substitution G T downstream_gene_variant MELA-AU 17 17793912 17793912 single base substitution G T intron_variant MELA-AU 17 17795048 17795048 single base substitution G A downstream_gene_variant MELA-AU 17 17795048 17795048 single base substitution G A intron_variant MELA-AU 17 17795336 17795336 single base substitution G A downstream_gene_variant MELA-AU 17 17795336 17795336 single base substitution G A intron_variant MELA-AU 17 17795529 17795529 single base substitution G A downstream_gene_variant MELA-AU 17 17795529 17795529 single base substitution G A intron_variant MELA-AU 17 17795535 17795535 single base substitution G A downstream_gene_variant MELA-AU 17 17795535 17795535 single base substitution G A intron_variant MELA-AU 17 17795955 17795955 single base substitution C T downstream_gene_variant MELA-AU 17 17795955 17795955 single base substitution C T intron_variant MELA-AU 17 17796205 17796205 single base substitution G A downstream_gene_variant MELA-AU 17 17796205 17796205 single base substitution G A intron_variant MELA-AU 17 17797059 17797059 single base substitution G A intron_variant MELA-AU 17 17797059 17797059 single base substitution G A synonymous_variant F61F 183C>T MELA-AU 17 17797059 17797059 single base substitution G A synonymous_variant F94F 282C>T MELA-AU 17 17797143 17797143 single base substitution G A intron_variant MELA-AU 17 17797301 17797301 single base substitution C T intron_variant MELA-AU 17 17797725 17797725 single base substitution C T intron_variant MELA-AU 17 17797931 17797931 single base substitution G A intron_variant MELA-AU 17 17798293 17798293 single base substitution G A intron_variant MELA-AU 17 17798369 17798369 single base substitution G A intron_variant MELA-AU 17 17798595 17798595 single base substitution G A intron_variant MELA-AU 17 17798742 17798742 single base substitution G A intron_variant MELA-AU 17 17799506 17799506 single base substitution G A intron_variant MELA-AU 17 17800318 17800318 single base substitution G A intron_variant MELA-AU 17 17800937 17800937 single base substitution C G intron_variant MELA-AU 17 17800987 17800987 single base substitution C T intron_variant MELA-AU 17 17801115 17801115 single base substitution C T intron_variant MELA-AU 17 17801219 17801219 single base substitution C G intron_variant MELA-AU 17 17801338 17801338 single base substitution C T intron_variant MELA-AU 17 17801705 17801705 single base substitution C G intron_variant MELA-AU 17 17801961 17801961 single base substitution C T exon_variant MELA-AU 17 17801961 17801961 single base substitution C T synonymous_variant K22K 66G>A MELA-AU 17 17801961 17801961 single base substitution C T synonymous_variant K55K 165G>A MELA-AU 17 17801964 17801964 single base substitution C T exon_variant MELA-AU 17 17801964 17801964 single base substitution C T synonymous_variant L21L 63G>A MELA-AU 17 17801964 17801964 single base substitution C T synonymous_variant L54L 162G>A MELA-AU 17 17802623 17802623 single base substitution C T intron_variant MELA-AU 17 17802905 17802905 single base substitution C G intron_variant MELA-AU 17 17803610 17803610 single base substitution G A intron_variant MELA-AU 17 17803718 17803718 single base substitution C G intron_variant MELA-AU 17 17803936 17803936 single base substitution C T intron_variant MELA-AU 17 17803943 17803943 single base substitution T G intron_variant MELA-AU 17 17803951 17803951 single base substitution G A intron_variant MELA-AU 17 17804017 17804017 single base substitution G A intron_variant MELA-AU 17 17804293 17804293 single base substitution G T intron_variant MELA-AU 17 17805465 17805466 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 17805519 17805519 single base substitution C T intron_variant MELA-AU 17 17807121 17807121 single base substitution G A intron_variant MELA-AU 17 17807133 17807133 single base substitution G A intron_variant MELA-AU 17 17807281 17807281 single base substitution G A intron_variant MELA-AU 17 17807766 17807766 single base substitution T C intron_variant MELA-AU 17 17807791 17807791 single base substitution C T intron_variant MELA-AU 17 17807974 17807974 single base substitution C G intron_variant MELA-AU 17 17808295 17808295 single base substitution C T intron_variant MELA-AU 17 17808965 17808965 single base substitution G A intron_variant MELA-AU 17 17810593 17810593 single base substitution G A intron_variant MELA-AU 17 17810818 17810818 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 17810818 17810818 single base substitution C T exon_variant MELA-AU 17 17810818 17810818 single base substitution C T missense_variant S27N 80G>A MELA-AU 17 17811699 17811699 single base substitution A C intron_variant MELA-AU 17 17812115 17812115 single base substitution G A intron_variant MELA-AU 17 17813848 17813848 single base substitution G A intron_variant MELA-AU 17 17813858 17813858 single base substitution G A intron_variant MELA-AU 17 17814481 17814481 single base substitution G A intron_variant MELA-AU 17 17814628 17814628 single base substitution G T intron_variant MELA-AU 17 17814745 17814745 single base substitution G A intron_variant MELA-AU 17 17814769 17814769 single base substitution T A intron_variant MELA-AU 17 17814953 17814953 single base substitution G A intron_variant MELA-AU 17 17815798 17815798 single base substitution G A intron_variant MELA-AU 17 17817093 17817093 single base substitution G A intron_variant MELA-AU 17 17817741 17817741 single base substitution A T intron_variant MELA-AU 17 17821197 17821197 single base substitution A T intron_variant MELA-AU 17 17822026 17822026 single base substitution G A intron_variant MELA-AU 17 17822999 17822999 single base substitution G A intron_variant MELA-AU 17 17823078 17823078 deletion of <=200bp A - intron_variant MELA-AU 17 17823424 17823424 single base substitution G A intron_variant MELA-AU 17 17823629 17823629 single base substitution C T intron_variant MELA-AU 17 17824175 17824175 single base substitution C T intron_variant MELA-AU 17 17824640 17824640 single base substitution G A intron_variant MELA-AU 17 17824853 17824853 single base substitution G A intron_variant MELA-AU 17 17824854 17824854 single base substitution G A intron_variant MELA-AU 17 17824889 17824889 single base substitution C A intron_variant MELA-AU 17 17825443 17825443 single base substitution C T intron_variant MELA-AU 17 17825861 17825861 single base substitution T C intron_variant MELA-AU 17 17825935 17825935 single base substitution C G intron_variant MELA-AU 17 17826353 17826353 single base substitution A T intron_variant MELA-AU 17 17826586 17826586 single base substitution G A intron_variant MELA-AU 17 17829442 17829442 single base substitution A C intron_variant MELA-AU 17 17829768 17829768 single base substitution C T intron_variant MELA-AU 17 17830161 17830161 single base substitution G A intron_variant MELA-AU 17 17830181 17830181 single base substitution G A intron_variant MELA-AU 17 17830641 17830641 single base substitution G A intron_variant MELA-AU 17 17831089 17831089 single base substitution C T intron_variant MELA-AU 17 17831170 17831170 single base substitution G A intron_variant MELA-AU 17 17831456 17831456 single base substitution G A intron_variant MELA-AU 17 17831578 17831578 single base substitution G A intron_variant MELA-AU 17 17832394 17832394 single base substitution C T intron_variant MELA-AU 17 17832979 17832979 single base substitution C T intron_variant MELA-AU 17 17833066 17833066 single base substitution C T intron_variant MELA-AU 17 17833989 17833989 single base substitution G A intron_variant MELA-AU 17 17834033 17834052 deletion of <=200bp AAACAAGAAGGCTGAAAACC - intron_variant MELA-AU 17 17834480 17834480 single base substitution C T intron_variant MELA-AU 17 17834586 17834586 single base substitution G A intron_variant MELA-AU 17 17834859 17834859 single base substitution G A intron_variant MELA-AU 17 17836197 17836197 single base substitution G A intron_variant MELA-AU 17 17837907 17837907 single base substitution G A intron_variant MELA-AU 17 17839257 17839257 single base substitution C T intron_variant MELA-AU 17 17839655 17839656 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 17840382 17840382 single base substitution A T intron_variant MELA-AU 17 17840709 17840709 single base substitution G A intron_variant MELA-AU 17 17842062 17842062 single base substitution G A intron_variant MELA-AU 17 17844865 17844865 single base substitution G T intron_variant MELA-AU 17 17845094 17845094 single base substitution G A intron_variant MELA-AU 17 17845203 17845203 single base substitution G A intron_variant MELA-AU 17 17847095 17847095 single base substitution C T intron_variant MELA-AU 17 17847229 17847229 single base substitution C T intron_variant MELA-AU 17 17847815 17847815 single base substitution G A intron_variant MELA-AU 17 17848163 17848163 single base substitution G A intron_variant MELA-AU 17 17849116 17849118 deletion of <=200bp AAG - intron_variant MELA-AU 17 17849276 17849276 single base substitution G A intron_variant MELA-AU 17 17850753 17850753 single base substitution G A intron_variant MELA-AU 17 17851584 17851584 single base substitution G A intron_variant MELA-AU 17 17851647 17851647 single base substitution G A intron_variant MELA-AU 17 17852350 17852350 single base substitution C A intron_variant MELA-AU 17 17852552 17852552 single base substitution G A intron_variant MELA-AU 17 17852832 17852832 single base substitution G A intron_variant MELA-AU 17 17853730 17853730 single base substitution C T intron_variant MELA-AU 17 17853950 17853950 single base substitution G A intron_variant MELA-AU 17 17854167 17854167 single base substitution G A intron_variant MELA-AU 17 17854316 17854316 single base substitution G A intron_variant MELA-AU 17 17854342 17854343 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 17855005 17855005 single base substitution G A intron_variant MELA-AU 17 17855137 17855137 single base substitution G A intron_variant MELA-AU 17 17856067 17856067 single base substitution G A intron_variant MELA-AU 17 17856414 17856414 single base substitution G A intron_variant MELA-AU 17 17857439 17857439 single base substitution C T intron_variant MELA-AU 17 17857443 17857443 single base substitution G A intron_variant MELA-AU 17 17857477 17857478 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 17857571 17857571 single base substitution G A intron_variant MELA-AU 17 17857862 17857862 single base substitution G A intron_variant MELA-AU 17 17858615 17858615 single base substitution G A intron_variant MELA-AU 17 17858628 17858629 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 17859414 17859414 single base substitution C T intron_variant MELA-AU 17 17860770 17860771 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 17861908 17861908 single base substitution G A intron_variant MELA-AU 17 17862060 17862060 single base substitution C T intron_variant MELA-AU 17 17864545 17864545 single base substitution C T intron_variant MELA-AU 17 17865432 17865432 single base substitution G A intron_variant MELA-AU 17 17866006 17866006 single base substitution G A intron_variant MELA-AU 17 17867153 17867153 single base substitution G T intron_variant MELA-AU 17 17867374 17867374 single base substitution G A intron_variant MELA-AU 17 17867760 17867760 single base substitution G T intron_variant MELA-AU 17 17867785 17867785 single base substitution A C intron_variant MELA-AU 17 17867878 17867878 single base substitution C T intron_variant MELA-AU 17 17868019 17868019 single base substitution G A intron_variant MELA-AU 17 17868458 17868458 single base substitution G A intron_variant MELA-AU 17 17868650 17868650 single base substitution C T intron_variant MELA-AU 17 17870455 17870455 single base substitution G A intron_variant MELA-AU 17 17870506 17870506 single base substitution T C intron_variant MELA-AU 17 17871763 17871763 single base substitution G A intron_variant MELA-AU 17 17872593 17872593 single base substitution A G intron_variant MELA-AU 17 17874873 17874873 single base substitution G A intron_variant MELA-AU 17 17875451 17875452 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 17875592 17875592 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 17875592 17875592 single base substitution T A exon_variant MELA-AU 17 17875592 17875592 single base substitution T A synonymous_variant P12P 36A>T MELA-AU 17 17875856 17875856 single base substitution C T upstream_gene_variant MELA-AU 17 17875882 17875882 single base substitution G A upstream_gene_variant MELA-AU 17 17875949 17875949 single base substitution C T upstream_gene_variant MELA-AU 17 17875989 17875989 single base substitution G A upstream_gene_variant MELA-AU 17 17876141 17876141 single base substitution G A upstream_gene_variant MELA-AU 17 17877274 17877274 single base substitution C G upstream_gene_variant MELA-AU 17 17877796 17877796 single base substitution C T upstream_gene_variant MELA-AU 17 17878032 17878032 single base substitution C T upstream_gene_variant MELA-AU 17 17878044 17878044 single base substitution C T upstream_gene_variant MELA-AU 17 17879102 17879102 single base substitution G A upstream_gene_variant MELA-AU 17 17879598 17879598 single base substitution G A upstream_gene_variant MELA-AU 17 17880204 17880204 single base substitution C T upstream_gene_variant ORCA-IN 17 17747411 17747411 single base substitution G C 3_prime_UTR_variant ORCA-IN 17 17747411 17747411 single base substitution G C downstream_gene_variant ORCA-IN 17 17761807 17761807 single base substitution T C downstream_gene_variant ORCA-IN 17 17761807 17761807 single base substitution T C intron_variant ORCA-IN 17 17780077 17780077 single base substitution T A intron_variant ORCA-IN 17 17780077 17780077 single base substitution T A upstream_gene_variant ORCA-IN 17 17820388 17820388 single base substitution C G intron_variant ORCA-IN 17 17832846 17832846 single base substitution G A intron_variant ORCA-IN 17 17862038 17862038 single base substitution C T intron_variant ORCA-IN 17 17870046 17870046 single base substitution T C intron_variant OV-AU 17 17745490 17745490 single base substitution G T downstream_gene_variant OV-AU 17 17749442 17749442 single base substitution G A 3_prime_UTR_variant OV-AU 17 17749442 17749442 single base substitution G A downstream_gene_variant OV-AU 17 17752372 17752372 single base substitution T C intron_variant OV-AU 17 17752372 17752372 single base substitution T C upstream_gene_variant OV-AU 17 17757271 17757271 single base substitution G A intron_variant OV-AU 17 17757271 17757271 single base substitution G A upstream_gene_variant OV-AU 17 17761937 17761937 single base substitution G A downstream_gene_variant OV-AU 17 17761937 17761937 single base substitution G A intron_variant OV-AU 17 17768814 17768814 single base substitution C T downstream_gene_variant OV-AU 17 17768814 17768814 single base substitution C T intron_variant OV-AU 17 17768814 17768814 single base substitution C T upstream_gene_variant OV-AU 17 17784324 17784324 single base substitution T C intron_variant OV-AU 17 17793262 17793262 single base substitution C G downstream_gene_variant OV-AU 17 17793262 17793262 single base substitution C G intron_variant OV-AU 17 17802267 17802267 single base substitution A C intron_variant OV-AU 17 17851174 17851174 single base substitution T C intron_variant OV-AU 17 17851367 17851367 single base substitution C G intron_variant OV-AU 17 17851548 17851548 single base substitution T C intron_variant OV-AU 17 17854154 17854154 single base substitution T A intron_variant OV-AU 17 17854269 17854269 single base substitution G T intron_variant OV-AU 17 17858126 17858126 single base substitution A C intron_variant OV-AU 17 17870208 17870208 single base substitution T A intron_variant OV-AU 17 17872724 17872724 single base substitution C T intron_variant OV-AU 17 17874969 17874969 single base substitution G A intron_variant OV-AU 17 17876084 17876084 single base substitution T C upstream_gene_variant OV-AU 17 17877350 17877350 single base substitution C T upstream_gene_variant PACA-AU 17 17744567 17744567 single base substitution G C downstream_gene_variant PACA-AU 17 17749967 17749967 single base substitution C A 3_prime_UTR_variant PACA-AU 17 17749967 17749967 single base substitution C A downstream_gene_variant PACA-AU 17 17750541 17750541 single base substitution G A 3_prime_UTR_variant PACA-AU 17 17750541 17750541 single base substitution G A downstream_gene_variant PACA-AU 17 17758276 17758276 single base substitution G A intron_variant PACA-AU 17 17758276 17758276 single base substitution G A upstream_gene_variant PACA-AU 17 17761349 17761349 single base substitution G C downstream_gene_variant PACA-AU 17 17761349 17761349 single base substitution G C intron_variant PACA-AU 17 17761797 17761797 single base substitution C T downstream_gene_variant PACA-AU 17 17761797 17761797 single base substitution C T intron_variant PACA-AU 17 17762133 17762133 single base substitution G A downstream_gene_variant PACA-AU 17 17762133 17762133 single base substitution G A intron_variant PACA-AU 17 17762199 17762199 deletion of <=200bp T - downstream_gene_variant PACA-AU 17 17762199 17762199 deletion of <=200bp T - intron_variant PACA-AU 17 17762360 17762360 single base substitution G C downstream_gene_variant PACA-AU 17 17762360 17762360 single base substitution G C intron_variant PACA-AU 17 17762410 17762410 single base substitution G A downstream_gene_variant PACA-AU 17 17762410 17762410 single base substitution G A intron_variant PACA-AU 17 17762416 17762416 deletion of <=200bp G - downstream_gene_variant PACA-AU 17 17762416 17762416 deletion of <=200bp G - intron_variant PACA-AU 17 17763605 17763605 single base substitution G T downstream_gene_variant PACA-AU 17 17763605 17763605 single base substitution G T intron_variant PACA-AU 17 17764146 17764146 single base substitution G T downstream_gene_variant PACA-AU 17 17764146 17764146 single base substitution G T intron_variant PACA-AU 17 17774019 17774019 single base substitution A G intron_variant PACA-AU 17 17785415 17785415 single base substitution C T intron_variant PACA-AU 17 17790752 17790752 single base substitution A C intron_variant PACA-AU 17 17812917 17812917 single base substitution T G intron_variant PACA-AU 17 17813889 17813889 single base substitution A G intron_variant PACA-AU 17 17827679 17827679 single base substitution A T intron_variant PACA-AU 17 17836652 17836652 single base substitution G C intron_variant PACA-AU 17 17844631 17844631 single base substitution G C intron_variant PACA-AU 17 17853461 17853461 single base substitution C T intron_variant PACA-AU 17 17860241 17860241 single base substitution C T intron_variant PACA-AU 17 17867227 17867227 single base substitution A G intron_variant PACA-AU 17 17868677 17868677 single base substitution G T intron_variant PACA-AU 17 17872391 17872391 single base substitution G A intron_variant PACA-AU 17 17875225 17875225 single base substitution C T intron_variant PACA-AU 17 17875672 17875672 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 17 17875672 17875672 single base substitution C A exon_variant PACA-AU 17 17875977 17875977 single base substitution G C upstream_gene_variant PACA-AU 17 17879974 17879974 single base substitution C A upstream_gene_variant PACA-CA 17 17747538 17747538 single base substitution A C 3_prime_UTR_variant PACA-CA 17 17747538 17747538 single base substitution A C downstream_gene_variant PACA-CA 17 17750772 17750772 single base substitution G T 3_prime_UTR_variant PACA-CA 17 17750772 17750772 single base substitution G T downstream_gene_variant PACA-CA 17 17750772 17750772 single base substitution G T exon_variant PACA-CA 17 17751156 17751156 single base substitution G A intron_variant PACA-CA 17 17756780 17756780 single base substitution T C intron_variant PACA-CA 17 17756780 17756780 single base substitution T C upstream_gene_variant PACA-CA 17 17757918 17757918 single base substitution G C intron_variant PACA-CA 17 17757918 17757918 single base substitution G C upstream_gene_variant PACA-CA 17 17764842 17764842 single base substitution G T downstream_gene_variant PACA-CA 17 17764842 17764842 single base substitution G T missense_variant A142D 425C>A PACA-CA 17 17764842 17764842 single base substitution G T missense_variant A261D 782C>A PACA-CA 17 17764842 17764842 single base substitution G T missense_variant A311D 932C>A PACA-CA 17 17764842 17764842 single base substitution G T missense_variant A356D 1067C>A PACA-CA 17 17764842 17764842 single base substitution G T missense_variant A359D 1076C>A PACA-CA 17 17764842 17764842 single base substitution G T missense_variant A364D 1091C>A PACA-CA 17 17764842 17764842 single base substitution G T missense_variant A409D 1226C>A PACA-CA 17 17766563 17766563 single base substitution C T downstream_gene_variant PACA-CA 17 17766563 17766563 single base substitution C T intron_variant PACA-CA 17 17766563 17766563 single base substitution C T upstream_gene_variant PACA-CA 17 17773714 17773714 single base substitution C T intron_variant PACA-CA 17 17774749 17774749 single base substitution C T intron_variant PACA-CA 17 17777576 17777576 single base substitution T C intron_variant PACA-CA 17 17777576 17777576 single base substitution T C upstream_gene_variant PACA-CA 17 17784643 17784643 single base substitution T C intron_variant PACA-CA 17 17785136 17785136 single base substitution G A intron_variant PACA-CA 17 17786076 17786076 single base substitution G A exon_variant PACA-CA 17 17786076 17786076 single base substitution G A intron_variant PACA-CA 17 17786076 17786076 single base substitution G A synonymous_variant S151S 453C>T PACA-CA 17 17786076 17786076 single base substitution G A synonymous_variant S156S 468C>T PACA-CA 17 17786076 17786076 single base substitution G A synonymous_variant S201S 603C>T PACA-CA 17 17791349 17791349 single base substitution C T intron_variant PACA-CA 17 17796835 17796835 single base substitution G T downstream_gene_variant PACA-CA 17 17796835 17796835 single base substitution G T intron_variant PACA-CA 17 17801949 17801949 single base substitution G A exon_variant PACA-CA 17 17801949 17801949 single base substitution G A synonymous_variant N26N 78C>T PACA-CA 17 17801949 17801949 single base substitution G A synonymous_variant N59N 177C>T PACA-CA 17 17806772 17806772 single base substitution A G intron_variant PACA-CA 17 17811500 17811500 single base substitution C A intron_variant PACA-CA 17 17813781 17813781 single base substitution C A intron_variant PACA-CA 17 17830608 17830608 single base substitution A G intron_variant PACA-CA 17 17837743 17837743 single base substitution G A intron_variant PACA-CA 17 17841748 17841748 single base substitution C T intron_variant PACA-CA 17 17845713 17845713 single base substitution C T intron_variant PACA-CA 17 17847318 17847319 deletion of <=200bp CC - intron_variant PACA-CA 17 17847323 17847323 deletion of <=200bp C - intron_variant PACA-CA 17 17847327 17847329 deletion of <=200bp GTG - intron_variant PACA-CA 17 17852602 17852602 single base substitution G C intron_variant PACA-CA 17 17854716 17854716 single base substitution G A intron_variant PACA-CA 17 17864784 17864784 single base substitution G A intron_variant PACA-CA 17 17866330 17866330 single base substitution A C intron_variant PACA-CA 17 17870454 17870454 single base substitution G A intron_variant PACA-CA 17 17872827 17872827 single base substitution C G intron_variant PAEN-AU 17 17768103 17768103 single base substitution G A downstream_gene_variant PAEN-AU 17 17768103 17768103 single base substitution G A intron_variant PAEN-AU 17 17768103 17768103 single base substitution G A upstream_gene_variant PAEN-AU 17 17770720 17770720 single base substitution G T downstream_gene_variant PAEN-AU 17 17770720 17770720 single base substitution G T intron_variant PAEN-AU 17 17770720 17770720 single base substitution G T upstream_gene_variant PAEN-AU 17 17781359 17781359 single base substitution C G intron_variant PAEN-AU 17 17837223 17837223 single base substitution G T intron_variant PAEN-AU 17 17872748 17872748 single base substitution A C intron_variant PBCA-DE 17 17744998 17744998 insertion of <=200bp - A downstream_gene_variant PBCA-DE 17 17749400 17749400 single base substitution C G 3_prime_UTR_variant PBCA-DE 17 17749400 17749400 single base substitution C G downstream_gene_variant PBCA-DE 17 17754913 17754914 deletion of <=200bp AC - intron_variant PBCA-DE 17 17754913 17754914 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 17 17760281 17760281 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 17760281 17760281 insertion of <=200bp - T intron_variant PBCA-DE 17 17762394 17762394 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 17762394 17762394 insertion of <=200bp - T intron_variant PBCA-DE 17 17762944 17762944 single base substitution C T downstream_gene_variant PBCA-DE 17 17762944 17762944 single base substitution C T intron_variant PBCA-DE 17 17778297 17778297 single base substitution G A intron_variant PBCA-DE 17 17778297 17778297 single base substitution G A upstream_gene_variant PBCA-DE 17 17782049 17782049 single base substitution T A intron_variant PBCA-DE 17 17795099 17795100 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 17 17795099 17795100 deletion of <=200bp GT - intron_variant PBCA-DE 17 17796876 17796876 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 17796876 17796876 insertion of <=200bp - T intron_variant PBCA-DE 17 17798285 17798285 single base substitution A G intron_variant PBCA-DE 17 17815347 17815348 deletion of <=200bp AA - intron_variant PBCA-DE 17 17815602 17815602 deletion of <=200bp C - intron_variant PBCA-DE 17 17816555 17816555 insertion of <=200bp - GAGAGGGAGA intron_variant PBCA-DE 17 17818830 17818830 deletion of <=200bp T - intron_variant PBCA-DE 17 17821549 17821549 single base substitution G A intron_variant PBCA-DE 17 17827679 17827679 single base substitution A T intron_variant PBCA-DE 17 17832953 17832953 insertion of <=200bp - A intron_variant PBCA-DE 17 17837354 17837354 single base substitution C T intron_variant PBCA-DE 17 17844920 17844920 single base substitution C T intron_variant PBCA-DE 17 17848605 17848606 deletion of <=200bp CT - intron_variant PBCA-DE 17 17850046 17850046 insertion of <=200bp - T intron_variant PBCA-DE 17 17879033 17879033 single base substitution G T upstream_gene_variant PRAD-CA 17 17772934 17772934 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant PRAD-CA 17 17772934 17772934 single base substitution T C intron_variant PRAD-CA 17 17813515 17813515 single base substitution A C intron_variant PRAD-CA 17 17817228 17817228 single base substitution T C intron_variant PRAD-CA 17 17820206 17820206 single base substitution T A intron_variant PRAD-CA 17 17842443 17842443 single base substitution T C intron_variant PRAD-CA 17 17847811 17847811 single base substitution C T intron_variant PRAD-CA 17 17850322 17850322 single base substitution C T intron_variant PRAD-UK 17 17744821 17744821 single base substitution A G downstream_gene_variant PRAD-UK 17 17759980 17759984 deletion of <=200bp TGCAC - intron_variant PRAD-UK 17 17802647 17802647 single base substitution G A intron_variant PRAD-UK 17 17811837 17811837 single base substitution G A intron_variant PRAD-UK 17 17815347 17815348 deletion of <=200bp AA - intron_variant PRAD-UK 17 17816371 17816371 single base substitution G C intron_variant PRAD-UK 17 17833920 17833920 single base substitution C T intron_variant PRAD-UK 17 17835776 17835776 single base substitution G A intron_variant PRAD-UK 17 17856286 17856286 single base substitution A G intron_variant PRAD-UK 17 17864736 17864736 single base substitution T A intron_variant PRAD-UK 17 17864737 17864737 single base substitution T A intron_variant PRAD-UK 17 17866885 17866885 single base substitution T A intron_variant PRAD-UK 17 17871760 17871760 single base substitution C A intron_variant PRAD-UK 17 17877989 17877989 single base substitution C T upstream_gene_variant RECA-EU 17 17755892 17755892 single base substitution G A intron_variant RECA-EU 17 17755892 17755892 single base substitution G A upstream_gene_variant RECA-EU 17 17759184 17759184 single base substitution C A intron_variant RECA-EU 17 17759184 17759184 single base substitution C A upstream_gene_variant RECA-EU 17 17759843 17759843 single base substitution G T intron_variant RECA-EU 17 17768162 17768162 single base substitution A T downstream_gene_variant RECA-EU 17 17768162 17768162 single base substitution A T intron_variant RECA-EU 17 17768162 17768162 single base substitution A T upstream_gene_variant RECA-EU 17 17781609 17781609 single base substitution C A intron_variant RECA-EU 17 17782141 17782141 single base substitution A T intron_variant RECA-EU 17 17786690 17786690 single base substitution A G intron_variant RECA-EU 17 17797204 17797204 single base substitution T A intron_variant RECA-EU 17 17797465 17797465 single base substitution C A intron_variant RECA-EU 17 17798285 17798285 single base substitution A G intron_variant RECA-EU 17 17817569 17817569 single base substitution G A intron_variant RECA-EU 17 17828313 17828313 single base substitution A G intron_variant RECA-EU 17 17848332 17848332 single base substitution C G intron_variant RECA-EU 17 17851627 17851627 single base substitution G A intron_variant RECA-EU 17 17854916 17854916 single base substitution G C intron_variant SKCA-BR 17 17743468 17743468 single base substitution A G downstream_gene_variant SKCA-BR 17 17746527 17746527 single base substitution G A downstream_gene_variant SKCA-BR 17 17749990 17749990 single base substitution T C 3_prime_UTR_variant SKCA-BR 17 17749990 17749990 single base substitution T C downstream_gene_variant SKCA-BR 17 17750725 17750725 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 17750725 17750725 single base substitution G A downstream_gene_variant SKCA-BR 17 17750725 17750725 single base substitution G A exon_variant SKCA-BR 17 17752831 17752831 single base substitution G A intron_variant SKCA-BR 17 17752831 17752831 single base substitution G A upstream_gene_variant SKCA-BR 17 17756691 17756691 single base substitution G A intron_variant SKCA-BR 17 17756691 17756691 single base substitution G A upstream_gene_variant SKCA-BR 17 17758455 17758455 single base substitution T G intron_variant SKCA-BR 17 17758455 17758455 single base substitution T G upstream_gene_variant SKCA-BR 17 17760844 17760844 single base substitution A T downstream_gene_variant SKCA-BR 17 17760844 17760844 single base substitution A T intron_variant SKCA-BR 17 17761581 17761581 single base substitution C T downstream_gene_variant SKCA-BR 17 17761581 17761581 single base substitution C T intron_variant SKCA-BR 17 17765486 17765486 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 17765486 17765486 single base substitution A C downstream_gene_variant SKCA-BR 17 17765486 17765486 single base substitution A C intron_variant SKCA-BR 17 17770337 17770337 single base substitution A C downstream_gene_variant SKCA-BR 17 17770337 17770337 single base substitution A C intron_variant SKCA-BR 17 17770337 17770337 single base substitution A C upstream_gene_variant SKCA-BR 17 17770782 17770782 single base substitution G A downstream_gene_variant SKCA-BR 17 17770782 17770782 single base substitution G A intron_variant SKCA-BR 17 17770782 17770782 single base substitution G A upstream_gene_variant SKCA-BR 17 17774668 17774668 single base substitution G A intron_variant SKCA-BR 17 17776183 17776183 single base substitution G A intron_variant SKCA-BR 17 17776183 17776183 single base substitution G A upstream_gene_variant SKCA-BR 17 17776478 17776478 single base substitution G A intron_variant SKCA-BR 17 17776478 17776478 single base substitution G A upstream_gene_variant SKCA-BR 17 17780153 17780153 single base substitution G A intron_variant SKCA-BR 17 17780153 17780153 single base substitution G A upstream_gene_variant SKCA-BR 17 17780312 17780312 single base substitution G A intron_variant SKCA-BR 17 17780312 17780312 single base substitution G A upstream_gene_variant SKCA-BR 17 17783968 17783968 single base substitution G A intron_variant SKCA-BR 17 17788551 17788551 single base substitution G A intron_variant SKCA-BR 17 17789711 17789711 single base substitution A C intron_variant SKCA-BR 17 17798248 17798248 insertion of <=200bp - AACAT intron_variant SKCA-BR 17 17803420 17803420 single base substitution G C intron_variant SKCA-BR 17 17809445 17809446 deletion of <=200bp CA - intron_variant SKCA-BR 17 17810741 17810741 single base substitution G A intron_variant SKCA-BR 17 17810742 17810742 single base substitution G A intron_variant SKCA-BR 17 17811299 17811299 single base substitution G A intron_variant SKCA-BR 17 17813214 17813214 single base substitution G T intron_variant SKCA-BR 17 17815546 17815546 single base substitution T C intron_variant SKCA-BR 17 17815594 17815594 single base substitution G A intron_variant SKCA-BR 17 17818073 17818073 single base substitution G A intron_variant SKCA-BR 17 17819188 17819188 single base substitution A G intron_variant SKCA-BR 17 17819579 17819579 single base substitution G A intron_variant SKCA-BR 17 17824978 17824978 single base substitution G T intron_variant SKCA-BR 17 17825065 17825065 single base substitution C G intron_variant SKCA-BR 17 17825267 17825267 insertion of <=200bp - CT intron_variant SKCA-BR 17 17831470 17831470 insertion of <=200bp - CA intron_variant SKCA-BR 17 17832711 17832711 single base substitution G A intron_variant SKCA-BR 17 17839024 17839024 single base substitution C A intron_variant SKCA-BR 17 17841124 17841124 single base substitution G A intron_variant SKCA-BR 17 17842080 17842080 insertion of <=200bp - GT intron_variant SKCA-BR 17 17843506 17843514 deletion of <=200bp CAAAAAAAA - intron_variant SKCA-BR 17 17847617 17847617 single base substitution C T intron_variant SKCA-BR 17 17848286 17848286 single base substitution G C intron_variant SKCA-BR 17 17848600 17848600 insertion of <=200bp - ACTCT intron_variant SKCA-BR 17 17849059 17849059 single base substitution T C intron_variant SKCA-BR 17 17853782 17853782 single base substitution T C intron_variant SKCA-BR 17 17859052 17859052 single base substitution G T intron_variant SKCA-BR 17 17867637 17867637 single base substitution C T intron_variant SKCA-BR 17 17869840 17869840 single base substitution A G intron_variant SKCA-BR 17 17871750 17871750 single base substitution G A intron_variant SKCA-BR 17 17872349 17872349 single base substitution G A intron_variant SKCA-BR 17 17872686 17872686 single base substitution A T intron_variant SKCA-BR 17 17875465 17875465 single base substitution A G intron_variant SKCA-BR 17 17875925 17875925 single base substitution C T upstream_gene_variant SKCA-BR 17 17875943 17875943 single base substitution G A upstream_gene_variant SKCA-BR 17 17876424 17876424 single base substitution T C upstream_gene_variant SKCA-BR 17 17876492 17876493 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 17 17877118 17877118 single base substitution G A upstream_gene_variant SKCM-US 17 17750954 17750954 single base substitution G A exon_variant SKCM-US 17 17750954 17750954 single base substitution G A synonymous_variant L240L 718C>T SKCM-US 17 17750954 17750954 single base substitution G A synonymous_variant L388L 1162C>T SKCM-US 17 17750954 17750954 single base substitution G A synonymous_variant L389L 1165C>T SKCM-US 17 17750954 17750954 single base substitution G A synonymous_variant L457L 1369C>T SKCM-US 17 17750954 17750954 single base substitution G A synonymous_variant L462L 1384C>T SKCM-US 17 17750954 17750954 single base substitution G A synonymous_variant L483L 1447C>T SKCM-US 17 17750954 17750954 single base substitution G A synonymous_variant L507L 1519C>T SKCM-US 17 17751084 17751084 single base substitution G A exon_variant SKCM-US 17 17751084 17751084 single base substitution G A synonymous_variant F196F 588C>T SKCM-US 17 17751084 17751084 single base substitution G A synonymous_variant F344F 1032C>T SKCM-US 17 17751084 17751084 single base substitution G A synonymous_variant F345F 1035C>T SKCM-US 17 17751084 17751084 single base substitution G A synonymous_variant F413F 1239C>T SKCM-US 17 17751084 17751084 single base substitution G A synonymous_variant F418F 1254C>T SKCM-US 17 17751084 17751084 single base substitution G A synonymous_variant F439F 1317C>T SKCM-US 17 17751084 17751084 single base substitution G A synonymous_variant F463F 1389C>T SKCM-US 17 17766051 17766051 single base substitution C T downstream_gene_variant SKCM-US 17 17766051 17766051 single base substitution C T missense_variant R132H 395G>A SKCM-US 17 17766051 17766051 single base substitution C T missense_variant R15H 44G>A SKCM-US 17 17766051 17766051 single base substitution C T missense_variant R251H 752G>A SKCM-US 17 17766051 17766051 single base substitution C T missense_variant R301H 902G>A SKCM-US 17 17766051 17766051 single base substitution C T missense_variant R346H 1037G>A SKCM-US 17 17766051 17766051 single base substitution C T missense_variant R349H 1046G>A SKCM-US 17 17766051 17766051 single base substitution C T missense_variant R354H 1061G>A SKCM-US 17 17766051 17766051 single base substitution C T missense_variant R399H 1196G>A SKCM-US 17 17766155 17766155 single base substitution C T downstream_gene_variant SKCM-US 17 17766155 17766155 single base substitution C T synonymous_variant G216G 648G>A SKCM-US 17 17766155 17766155 single base substitution C T synonymous_variant G266G 798G>A SKCM-US 17 17766155 17766155 single base substitution C T synonymous_variant G311G 933G>A SKCM-US 17 17766155 17766155 single base substitution C T synonymous_variant G314G 942G>A SKCM-US 17 17766155 17766155 single base substitution C T synonymous_variant G319G 957G>A SKCM-US 17 17766155 17766155 single base substitution C T synonymous_variant G364G 1092G>A SKCM-US 17 17766155 17766155 single base substitution C T synonymous_variant G97G 291G>A SKCM-US 17 17766155 17766155 single base substitution C T upstream_gene_variant SKCM-US 17 17769636 17769636 single base substitution G A downstream_gene_variant SKCM-US 17 17769636 17769636 single base substitution G A exon_variant SKCM-US 17 17769636 17769636 single base substitution G A missense_variant S205F 614C>T SKCM-US 17 17769636 17769636 single base substitution G A missense_variant S255F 764C>T SKCM-US 17 17769636 17769636 single base substitution G A missense_variant S300F 899C>T SKCM-US 17 17769636 17769636 single base substitution G A missense_variant S303F 908C>T SKCM-US 17 17769636 17769636 single base substitution G A missense_variant S308F 923C>T SKCM-US 17 17769636 17769636 single base substitution G A missense_variant S353F 1058C>T SKCM-US 17 17769636 17769636 single base substitution G A missense_variant S86F 257C>T SKCM-US 17 17769636 17769636 single base substitution G A upstream_gene_variant SKCM-US 17 17797059 17797059 single base substitution G A intron_variant SKCM-US 17 17797059 17797059 single base substitution G A synonymous_variant F61F 183C>T SKCM-US 17 17797059 17797059 single base substitution G A synonymous_variant F94F 282C>T STAD-US 17 17754256 17754256 single base substitution G A exon_variant STAD-US 17 17754256 17754256 single base substitution G A intron_variant STAD-US 17 17754256 17754256 single base substitution G A missense_variant A163V 488C>T STAD-US 17 17754256 17754256 single base substitution G A missense_variant A311V 932C>T STAD-US 17 17754256 17754256 single base substitution G A missense_variant A380V 1139C>T STAD-US 17 17754256 17754256 single base substitution G A missense_variant A385V 1154C>T STAD-US 17 17754256 17754256 single base substitution G A missense_variant A406V 1217C>T STAD-US 17 17754256 17754256 single base substitution G A missense_variant A430V 1289C>T STAD-US 17 17754256 17754256 single base substitution G A upstream_gene_variant STAD-US 17 17754260 17754260 single base substitution C T exon_variant STAD-US 17 17754260 17754260 single base substitution C T intron_variant STAD-US 17 17754260 17754260 single base substitution C T missense_variant V162I 484G>A STAD-US 17 17754260 17754260 single base substitution C T missense_variant V310I 928G>A STAD-US 17 17754260 17754260 single base substitution C T missense_variant V379I 1135G>A STAD-US 17 17754260 17754260 single base substitution C T missense_variant V384I 1150G>A STAD-US 17 17754260 17754260 single base substitution C T missense_variant V405I 1213G>A STAD-US 17 17754260 17754260 single base substitution C T missense_variant V429I 1285G>A STAD-US 17 17754260 17754260 single base substitution C T upstream_gene_variant STAD-US 17 17764788 17764788 single base substitution A G downstream_gene_variant STAD-US 17 17764788 17764788 single base substitution A G splice_donor_variant STAD-US 17 17766046 17766046 single base substitution T C downstream_gene_variant STAD-US 17 17766046 17766046 single base substitution T C missense_variant T134A 400A>G STAD-US 17 17766046 17766046 single base substitution T C missense_variant T17A 49A>G STAD-US 17 17766046 17766046 single base substitution T C missense_variant T253A 757A>G STAD-US 17 17766046 17766046 single base substitution T C missense_variant T303A 907A>G STAD-US 17 17766046 17766046 single base substitution T C missense_variant T348A 1042A>G STAD-US 17 17766046 17766046 single base substitution T C missense_variant T351A 1051A>G STAD-US 17 17766046 17766046 single base substitution T C missense_variant T356A 1066A>G STAD-US 17 17766046 17766046 single base substitution T C missense_variant T401A 1201A>G STAD-US 17 17766051 17766051 single base substitution C T downstream_gene_variant STAD-US 17 17766051 17766051 single base substitution C T missense_variant R132H 395G>A STAD-US 17 17766051 17766051 single base substitution C T missense_variant R15H 44G>A STAD-US 17 17766051 17766051 single base substitution C T missense_variant R251H 752G>A STAD-US 17 17766051 17766051 single base substitution C T missense_variant R301H 902G>A STAD-US 17 17766051 17766051 single base substitution C T missense_variant R346H 1037G>A STAD-US 17 17766051 17766051 single base substitution C T missense_variant R349H 1046G>A STAD-US 17 17766051 17766051 single base substitution C T missense_variant R354H 1061G>A STAD-US 17 17766051 17766051 single base substitution C T missense_variant R399H 1196G>A STAD-US 17 17766052 17766052 single base substitution G A downstream_gene_variant STAD-US 17 17766052 17766052 single base substitution G A missense_variant R132C 394C>T STAD-US 17 17766052 17766052 single base substitution G A missense_variant R15C 43C>T STAD-US 17 17766052 17766052 single base substitution G A missense_variant R251C 751C>T STAD-US 17 17766052 17766052 single base substitution G A missense_variant R301C 901C>T STAD-US 17 17766052 17766052 single base substitution G A missense_variant R346C 1036C>T STAD-US 17 17766052 17766052 single base substitution G A missense_variant R349C 1045C>T STAD-US 17 17766052 17766052 single base substitution G A missense_variant R354C 1060C>T STAD-US 17 17766052 17766052 single base substitution G A missense_variant R399C 1195C>T STAD-US 17 17766053 17766053 single base substitution C T downstream_gene_variant STAD-US 17 17766053 17766053 single base substitution C T synonymous_variant Q131Q 393G>A STAD-US 17 17766053 17766053 single base substitution C T synonymous_variant Q14Q 42G>A STAD-US 17 17766053 17766053 single base substitution C T synonymous_variant Q250Q 750G>A STAD-US 17 17766053 17766053 single base substitution C T synonymous_variant Q300Q 900G>A STAD-US 17 17766053 17766053 single base substitution C T synonymous_variant Q345Q 1035G>A STAD-US 17 17766053 17766053 single base substitution C T synonymous_variant Q348Q 1044G>A STAD-US 17 17766053 17766053 single base substitution C T synonymous_variant Q353Q 1059G>A STAD-US 17 17766053 17766053 single base substitution C T synonymous_variant Q398Q 1194G>A STAD-US 17 17772673 17772673 single base substitution C T exon_variant STAD-US 17 17772673 17772673 single base substitution C T missense_variant V150I 448G>A STAD-US 17 17772673 17772673 single base substitution C T missense_variant V200I 598G>A STAD-US 17 17772673 17772673 single base substitution C T missense_variant V245I 733G>A STAD-US 17 17772673 17772673 single base substitution C T missense_variant V248I 742G>A STAD-US 17 17772673 17772673 single base substitution C T missense_variant V253I 757G>A STAD-US 17 17772673 17772673 single base substitution C T missense_variant V298I 892G>A STAD-US 17 17772673 17772673 single base substitution C T missense_variant V31I 91G>A STAD-US 17 17787971 17787971 single base substitution A C exon_variant STAD-US 17 17787971 17787971 single base substitution A C intron_variant STAD-US 17 17787971 17787971 single base substitution A C missense_variant S110A 328T>G STAD-US 17 17787971 17787971 single base substitution A C missense_variant S160A 478T>G STAD-US 17 17788064 17788064 single base substitution G A exon_variant STAD-US 17 17788064 17788064 single base substitution G A intron_variant STAD-US 17 17788064 17788064 single base substitution G A stop_gained R129* 385C>T STAD-US 17 17788064 17788064 single base substitution G A stop_gained R79* 235C>T STAD-US 17 17797056 17797056 single base substitution G A intron_variant STAD-US 17 17797056 17797056 single base substitution G A synonymous_variant I62I 186C>T STAD-US 17 17797056 17797056 single base substitution G A synonymous_variant I95I 285C>T UCEC-US 17 17764809 17764809 single base substitution C T downstream_gene_variant UCEC-US 17 17764809 17764809 single base substitution C T missense_variant R153Q 458G>A UCEC-US 17 17764809 17764809 single base substitution C T missense_variant R272Q 815G>A UCEC-US 17 17764809 17764809 single base substitution C T missense_variant R322Q 965G>A UCEC-US 17 17764809 17764809 single base substitution C T missense_variant R367Q 1100G>A UCEC-US 17 17764809 17764809 single base substitution C T missense_variant R370Q 1109G>A UCEC-US 17 17764809 17764809 single base substitution C T missense_variant R375Q 1124G>A UCEC-US 17 17764809 17764809 single base substitution C T missense_variant R420Q 1259G>A UCEC-US 17 17766093 17766093 single base substitution T G downstream_gene_variant UCEC-US 17 17766093 17766093 single base substitution T G missense_variant D118A 353A>C UCEC-US 17 17766093 17766093 single base substitution T G missense_variant D1A 2A>C UCEC-US 17 17766093 17766093 single base substitution T G missense_variant D237A 710A>C UCEC-US 17 17766093 17766093 single base substitution T G missense_variant D287A 860A>C UCEC-US 17 17766093 17766093 single base substitution T G missense_variant D332A 995A>C UCEC-US 17 17766093 17766093 single base substitution T G missense_variant D335A 1004A>C UCEC-US 17 17766093 17766093 single base substitution T G missense_variant D340A 1019A>C UCEC-US 17 17766093 17766093 single base substitution T G missense_variant D385A 1154A>C UCEC-US 17 17766105 17766105 single base substitution C T downstream_gene_variant UCEC-US 17 17766105 17766105 single base substitution C T missense_variant R114H 341G>A UCEC-US 17 17766105 17766105 single base substitution C T missense_variant R233H 698G>A UCEC-US 17 17766105 17766105 single base substitution C T missense_variant R283H 848G>A UCEC-US 17 17766105 17766105 single base substitution C T missense_variant R328H 983G>A UCEC-US 17 17766105 17766105 single base substitution C T missense_variant R331H 992G>A UCEC-US 17 17766105 17766105 single base substitution C T missense_variant R336H 1007G>A UCEC-US 17 17766105 17766105 single base substitution C T missense_variant R381H 1142G>A UCEC-US 17 17766105 17766105 single base substitution C T upstream_gene_variant UCEC-US 17 17766126 17766126 single base substitution G T downstream_gene_variant UCEC-US 17 17766126 17766126 single base substitution G T stop_gained S107* 320C>A UCEC-US 17 17766126 17766126 single base substitution G T stop_gained S226* 677C>A UCEC-US 17 17766126 17766126 single base substitution G T stop_gained S276* 827C>A UCEC-US 17 17766126 17766126 single base substitution G T stop_gained S321* 962C>A UCEC-US 17 17766126 17766126 single base substitution G T stop_gained S324* 971C>A UCEC-US 17 17766126 17766126 single base substitution G T stop_gained S329* 986C>A UCEC-US 17 17766126 17766126 single base substitution G T stop_gained S374* 1121C>A UCEC-US 17 17766126 17766126 single base substitution G T upstream_gene_variant UCEC-US 17 17772710 17772710 single base substitution G A exon_variant UCEC-US 17 17772710 17772710 single base substitution G A synonymous_variant T137T 411C>T UCEC-US 17 17772710 17772710 single base substitution G A synonymous_variant T187T 561C>T UCEC-US 17 17772710 17772710 single base substitution G A synonymous_variant T18T 54C>T UCEC-US 17 17772710 17772710 single base substitution G A synonymous_variant T232T 696C>T UCEC-US 17 17772710 17772710 single base substitution G A synonymous_variant T235T 705C>T UCEC-US 17 17772710 17772710 single base substitution G A synonymous_variant T240T 720C>T UCEC-US 17 17772710 17772710 single base substitution G A synonymous_variant T285T 855C>T UCEC-US 17 17786070 17786070 single base substitution C T exon_variant UCEC-US 17 17786070 17786070 single base substitution C T intron_variant UCEC-US 17 17786070 17786070 single base substitution C T synonymous_variant P153P 459G>A UCEC-US 17 17786070 17786070 single base substitution C T synonymous_variant P158P 474G>A UCEC-US 17 17786070 17786070 single base substitution C T synonymous_variant P203P 609G>A UCEC-US 17 17788063 17788063 single base substitution C T exon_variant UCEC-US 17 17788063 17788063 single base substitution C T intron_variant UCEC-US 17 17788063 17788063 single base substitution C T missense_variant R129Q 386G>A UCEC-US 17 17788063 17788063 single base substitution C T missense_variant R79Q 236G>A UCEC-US 17 17788064 17788064 single base substitution G A exon_variant UCEC-US 17 17788064 17788064 single base substitution G A intron_variant UCEC-US 17 17788064 17788064 single base substitution G A stop_gained R129* 385C>T UCEC-US 17 17788064 17788064 single base substitution G A stop_gained R79* 235C>T UCEC-US 17 17797056 17797056 single base substitution G A intron_variant UCEC-US 17 17797056 17797056 single base substitution G A synonymous_variant I62I 186C>T UCEC-US 17 17797056 17797056 single base substitution G A synonymous_variant I95I 285C>T UCEC-US 17 17810807 17810807 single base substitution T C 5_prime_UTR_variant UCEC-US 17 17810807 17810807 single base substitution T C exon_variant UCEC-US 17 17810807 17810807 single base substitution T C missense_variant T31A 91A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT-116 COSM1679613 c.1480C>T p.R494W Substitution - Missense 17:17847679-17847679 - TCGA-AP-A056-01 COSM316072 c.1109G>A p.R370Q Substitution - Missense 17:17861495-17861495 - 1_RESISTANT COSM1720743 c.158C>T p.A53V Substitution - Missense 17:17898654-17898654 - PCSI_0083_Pa_P_526 COSM3787276 c.603C>T p.S201S Substitution - coding silent 17:17882762-17882762 - 1_RESISTANT COSM1720744 c.158C>T p.A53V Substitution - Missense 17:17898654-17898654 - TCGA-DK-A3WW-01 COSM3362007 c.702C>T p.V234V Substitution - coding silent 17:17869399-17869399 - TCGA-Q1-A5R3-01 COSM4834021 c.154C>T p.R52* Substitution - Nonsense 17:17898658-17898658 - TCGA-AX-A0J1-01 COSM976146 c.459G>A p.P153P Substitution - coding silent 17:17882756-17882756 - PD3192a COSM1658928 c.409G>A p.V137I Substitution - Missense 17:17884726-17884726 - PT37 COSM5921284 c.53-1G>A p.? Unknown 17:17907532-17907532 - MOLT-4 COSM1679615 c.240C>A p.N80K Substitution - Missense 17:17893787-17893787 - 436 COSM4434013 c.548C>T p.S183L Substitution - Missense 17:17882817-17882817 - TCGA-BR-4201-01 COSM4064412 c.1051A>G p.T351A Substitution - Missense 17:17862732-17862732 - BD72T COSM5513271 c.720G>T p.E240D Substitution - Missense 17:17879684-17879684 - HCT15 COSM2740365 c.935G>A p.R312Q Substitution - Missense 17:17866901-17866901 - CSCC-35-T COSM4465589 c.1390C>T p.L464F Substitution - Missense 17:17847769-17847769 - CSCC-35-T COSM4465590 c.1240C>T p.L414F Substitution - Missense 17:17847769-17847769 - TCGA-C5-A1M6-01 COSM4826748 c.675C>T p.L225L Substitution - coding silent 17:17869426-17869426 - LS411 COSM2740389 c.215C>A p.T72K Substitution - Missense 17:17898597-17898597 - CSCC-37-T COSM4515177 c.9C>T p.F3F Substitution - coding silent 17:17972305-17972305 - PR-06-1749 COSM247943 c.1028A>G p.N343S Substitution - Missense 17:17862755-17862755 - DLD1 COSM2740366 c.785G>A p.R262Q Substitution - Missense 17:17866901-17866901 - TCGA-B5-A11H-01 COSM1588642 c.855C>T p.T285T Substitution - coding silent 17:17869396-17869396 - TCGA-CG-5721-01 COSM4064409 c.1278+2T>C p.? Unknown 17:17861474-17861474 - CSCC-37-T COSM4502802 c.622C>T p.L208L Substitution - coding silent 17:17882743-17882743 - TCGA-B7-5816-01 COSM3514811 c.1196G>A p.R399H Substitution - Missense 17:17862737-17862737 - TCGA-AN-A0AK-01 COSM3818954 c.662G>A p.R221H Substitution - Missense 17:17869439-17869439 - HCT15 COSM2740366 c.785G>A p.R262Q Substitution - Missense 17:17866901-17866901 - HCC127T COSM5822692 c.1102G>T p.V368F Substitution - Missense 17:17862831-17862831 - TCGA-CM-6674-01 COSM1381253 c.538A>G p.R180G Substitution - Missense 17:17882827-17882827 - Pat_16_A COSM1588639 c.385C>T p.R129* Substitution - Nonsense 17:17884750-17884750 - TCGA-AQ-A54O-01 COSM3818955 c.582G>A p.S194S Substitution - coding silent 17:17882783-17882783 - EGC8 COSM5055271 c.1434delC p.S479fs*>29 Deletion - Frameshift 17:17847725-17847725 - sysucc-1317T COSM5448947 c.1425C>T p.P475P Substitution - coding silent 17:17847734-17847734 - TCGA-A6-2686-01 COSM1302469 c.1139C>T p.A380V Substitution - Missense 17:17850942-17850942 - HCT8 COSM2740366 c.785G>A p.R262Q Substitution - Missense 17:17866901-17866901 - TCGA-FS-A4F5-06 COSM3514808 c.1369C>T p.L457L Substitution - coding silent 17:17847640-17847640 - S00943 COSM316072 c.1109G>A p.R370Q Substitution - Missense 17:17861495-17861495 - TCGA-B7-5816-01 COSM3514812 c.1046G>A p.R349H Substitution - Missense 17:17862737-17862737 - TCGA-D1-A15W-01 COSM976141 c.1076C>A p.A359D Substitution - Missense 17:17861528-17861528 - LS411 COSM2740390 c.215C>A p.T72K Substitution - Missense 17:17898597-17898597 - DLD1 COSM2740365 c.935G>A p.R312Q Substitution - Missense 17:17866901-17866901 - TCGA-BP-4798-01 COSM3362008 c.116T>C p.I39T Substitution - Missense 17:17907468-17907468 - TCGA-BS-A0TC-01 COSM976144 c.971C>A p.S324* Substitution - Nonsense 17:17862812-17862812 - TCGA-B0-4697-01 COSM3362006 c.852C>T p.V284V Substitution - coding silent 17:17869399-17869399 - T3152 COSM4735272 c.1019C>T p.T340M Substitution - Missense 17:17862764-17862764 - Pat_41_B COSM5851953 c.386C>T p.P129L Substitution - Missense 17:17882829-17882829 - sysucc-1317T COSM5448948 c.1275C>T p.P425P Substitution - coding silent 17:17847734-17847734 - TCGA-B5-A11E-01 COSM1588639 c.385C>T p.R129* Substitution - Nonsense 17:17884750-17884750 - B80-8-Tumor COSM3932497 c.568G>C p.E190Q Substitution - Missense 17:17879686-17879686 - TCGA-EP-A2KA-01 COSM4917167 c.164A>G p.K55R Substitution - Missense 17:17898648-17898648 - TCGA-B5-A11H-01 COSM976145 c.705C>T p.T235T Substitution - coding silent 17:17869396-17869396 - T578 COSM4735274 c.765C>T p.F255F Substitution - coding silent 17:17866921-17866921 - TCGA-GD-A3OP-01 COSM1302468 c.1289C>T p.A430V Substitution - Missense 17:17850942-17850942 - TCGA-GD-A3OP-01 COSM1302469 c.1139C>T p.A380V Substitution - Missense 17:17850942-17850942 - TCGA-BS-A0UF-01 COSM316072 c.1109G>A p.R370Q Substitution - Missense 17:17861495-17861495 - 587284 COSM1230064 c.683G>A p.R228H Substitution - Missense 17:17869418-17869418 - B80-8-Tumor COSM3932496 c.718G>C p.E240Q Substitution - Missense 17:17879686-17879686 - TCGA-CK-4951-01 COSM5149209 c.184C>T p.R62W Substitution - Missense 17:17898628-17898628 - STC291 COSM5055274 c.435G>A p.P145P Substitution - coding silent 17:17882780-17882780 - 2290929 COSM4440469 c.255C>T p.T85T Substitution - coding silent 17:17884730-17884730 - TCGA-BR-4201-01 COSM4064411 c.1201A>G p.T401A Substitution - Missense 17:17862732-17862732 - EGC8 COSM5055272 c.1284delC p.S429fs*>29 Deletion - Frameshift 17:17847725-17847725 - TCGA-BR-A4J8-01 COSM4064419 c.478T>G p.S160A Substitution - Missense 17:17884657-17884657 - HCT116 COSM1679614 c.1330C>T p.R444W Substitution - Missense 17:17847679-17847679 - TCGA-CG-4305-01 COSM4064414 c.1045C>T p.R349C Substitution - Missense 17:17862738-17862738 - HCT8 COSM2740365 c.935G>A p.R312Q Substitution - Missense 17:17866901-17866901 - S02376 COSM5696979 c.384G>T p.M128I Substitution - Missense 17:17882831-17882831 - ccRCC-40 COSM1664628 c.616C>T p.P206S Substitution - Missense 17:17882749-17882749 - TCGA-BR-4184-01 COSM4064415 c.1194G>A p.Q398Q Substitution - coding silent 17:17862739-17862739 - LUAD_E00945 COSM389901 c.191A>G p.Y64C Substitution - Missense 17:17898621-17898621 - CSCC-37-T COSM4515176 c.9C>T p.F3F Substitution - coding silent 17:17972305-17972305 - ESCC_151 COSM5645161 c.128C>T p.T43M Substitution - Missense 17:17907456-17907456 - TCGA-AQ-A54O-01 COSM3818956 c.432G>A p.S144S Substitution - coding silent 17:17882783-17882783 - 1_PRE-TREATMENT COSM1720744 c.158C>T p.A53V Substitution - Missense 17:17898654-17898654 - TCGA-AP-A0LM-01 COSM1588638 c.91A>G p.T31A Substitution - Missense 17:17907493-17907493 - ESCC_151 COSM5645160 c.128C>T p.T43M Substitution - Missense 17:17907456-17907456 - HCC127T COSM5822693 c.952G>T p.V318F Substitution - Missense 17:17862831-17862831 - TCGA-D9-A6EC-06 COSM4402330 c.1092G>A p.G364G Substitution - coding silent 17:17862841-17862841 - TCGA-DK-A3WW-01 COSM3362006 c.852C>T p.V284V Substitution - coding silent 17:17869399-17869399 - Pat_45_B COSM5851948 c.716C>T p.S239F Substitution - Missense 17:17879688-17879688 - TCGA-BH-A0BZ-01 COSM436138 c.357C>T p.V119V Substitution - coding silent 17:17882858-17882858 - TCGA-CG-5721-01 COSM4064410 c.1128+2T>C p.? Unknown 17:17861474-17861474 - TCGA-B5-A0JY-01 COSM976147 c.236G>A p.R79Q Substitution - Missense 17:17884749-17884749 - 1_PRE-TREATMENT COSM1720743 c.158C>T p.A53V Substitution - Missense 17:17898654-17898654 - HCT15 COSM2740357 c.1217A>G p.D406G Substitution - Missense 17:17861537-17861537 - HCT116 COSM1679613 c.1480C>T p.R494W Substitution - Missense 17:17847679-17847679 - HCT-116 COSM1679614 c.1330C>T p.R444W Substitution - Missense 17:17847679-17847679 - TCGA-HU-A4GN-01 COSM4064407 c.1285G>A p.V429I Substitution - Missense 17:17850946-17850946 - TCGA-BR-4371-01 COSM976151 c.285C>T p.I95I Substitution - coding silent 17:17893742-17893742 - TCGA-FS-A4F5-06 COSM3514807 c.1519C>T p.L507L Substitution - coding silent 17:17847640-17847640 - Pat_45_B COSM5851949 c.566C>T p.S189F Substitution - Missense 17:17879688-17879688 - TCGA-BR-8081-01 COSM1588639 c.385C>T p.R129* Substitution - Nonsense 17:17884750-17884750 - PT24_1 COSM5904462 c.454C>T p.P152S Substitution - Missense 17:17884681-17884681 - TCGA-ER-A193-06 COSM3514810 c.1239C>T p.F413F Substitution - coding silent 17:17847770-17847770 - TCGA-B0-4697-01 COSM3362007 c.702C>T p.V234V Substitution - coding silent 17:17869399-17869399 - PT37 COSM5921283 c.53-1G>A p.? Unknown 17:17907532-17907532 - TCGA-B0-5099-01 COSM1135886 c.1062C>A p.L354L Substitution - coding silent 17:17866318-17866318 - Pat_41_B COSM5851952 c.536C>T p.P179L Substitution - Missense 17:17882829-17882829 - TCGA-HU-A4GN-01 COSM4064408 c.1135G>A p.V379I Substitution - Missense 17:17850946-17850946 - TCGA-B5-A11V-01 COSM1153033 c.1142G>A p.R381H Substitution - Missense 17:17862791-17862791 - TCGA-AX-A0J0-01 COSM1588644 c.1154A>C p.D385A Substitution - Missense 17:17862779-17862779 - Pat_37_B COSM5851951 c.428C>T p.S143F Substitution - Missense 17:17882787-17882787 - TCGA-BR-4256-01 COSM1302469 c.1139C>T p.A380V Substitution - Missense 17:17850942-17850942 - TCGA-B5-A0JY-01 COSM1588640 c.386G>A p.R129Q Substitution - Missense 17:17884749-17884749 - SC_9076 COSM3818956 c.432G>A p.S144S Substitution - coding silent 17:17882783-17882783 - HCC009T COSM5819859 c.210A>T p.A70A Substitution - coding silent 17:17898602-17898602 - PT24_1 COSM5904463 c.304C>T p.P102S Substitution - Missense 17:17884681-17884681 - TCGA-B2-5641-01 COSM1135887 c.53A>T p.E18V Substitution - Missense 17:17907531-17907531 - TCGA-G9-6338-01 COSM3672366 c.1022G>T p.R341I Substitution - Missense 17:17862761-17862761 - T2583 COSM4735277 c.630G>A p.V210V Substitution - coding silent 17:17882735-17882735 - ccRCC-40 COSM1664629 c.466C>T p.P156S Substitution - Missense 17:17882749-17882749 - T3152 COSM4735271 c.1169C>T p.T390M Substitution - Missense 17:17862764-17862764 - HCC009T COSM5819858 c.210A>T p.A70A Substitution - coding silent 17:17898602-17898602 - SNU-175 COSM2740343 c.1322C>A p.P441H Substitution - Missense 17:17847687-17847687 - TCGA-D3-A2JL-06 COSM3514815 c.282C>T p.F94F Substitution - coding silent 17:17893745-17893745 - TCGA-CG-5726-01 COSM4064418 c.742G>A p.V248I Substitution - Missense 17:17869359-17869359 - T578 COSM4735273 c.915C>T p.F305F Substitution - coding silent 17:17866921-17866921 - TCGA-CG-4305-01 COSM4064413 c.1195C>T p.R399C Substitution - Missense 17:17862738-17862738 - 587284 COSM1230063 c.833G>A p.R278H Substitution - Missense 17:17869418-17869418 - TCGA-BS-A0UF-01 COSM1588645 c.1259G>A p.R420Q Substitution - Missense 17:17861495-17861495 - TCGA-FS-A4F8-06 COSM3514812 c.1046G>A p.R349H Substitution - Missense 17:17862737-17862737 - CSCC-38-T COSM4498523 c.371C>T p.P124L Substitution - Missense 17:17882844-17882844 - TCGA-BH-A0BZ-01 COSM1479307 c.507C>T p.V169V Substitution - coding silent 17:17882858-17882858 - STC291 COSM5055273 c.585G>A p.P195P Substitution - coding silent 17:17882780-17882780 - TCGA-AP-A0LM-01 COSM976151 c.285C>T p.I95I Substitution - coding silent 17:17893742-17893742 - TCGA-AX-A0J0-01 COSM976142 c.1004A>C p.D335A Substitution - Missense 17:17862779-17862779 - 436 COSM4434014 c.398C>T p.S133L Substitution - Missense 17:17882817-17882817 - TCGA-AP-A056-01 COSM1588645 c.1259G>A p.R420Q Substitution - Missense 17:17861495-17861495 - TCGA-AP-A0LM-01 COSM976152 c.91A>G p.T31A Substitution - Missense 17:17907493-17907493 - 2290929 COSM4440468 c.405C>T p.T135T Substitution - coding silent 17:17884730-17884730 - HCT15 COSM2740358 c.1067A>G p.D356G Substitution - Missense 17:17861537-17861537 - TCGA-B2-5641-01 COSM472375 c.53A>T p.E18V Substitution - Missense 17:17907531-17907531 - TCGA-B5-A11V-01 COSM976143 c.992G>A p.R331H Substitution - Missense 17:17862791-17862791 - CSCC-38-T COSM4498522 c.521C>T p.P174L Substitution - Missense 17:17882844-17882844 - TCGA-BR-8081-01 COSM976148 c.235C>T p.R79* Substitution - Nonsense 17:17884750-17884750 - PCSI_0083_Pa_P_526 COSM3787277 c.453C>T p.S151S Substitution - coding silent 17:17882762-17882762 - CSCC-52-T COSM4488005 c.325C>T p.P109S Substitution - Missense 17:17893702-17893702 - TCGA-ER-A19K-01 COSM3514814 c.908C>T p.S303F Substitution - Missense 17:17866322-17866322 - PD3192a COSM1658929 c.259G>A p.V87I Substitution - Missense 17:17884726-17884726 - SNU-175 COSM2740342 c.1472C>A p.P491H Substitution - Missense 17:17847687-17847687 - TCGA-AN-A0AK-01 COSM3818953 c.812G>A p.R271H Substitution - Missense 17:17869439-17869439 - TCGA-FS-A4F8-06 COSM3514811 c.1196G>A p.R399H Substitution - Missense 17:17862737-17862737 - TCGA-B5-A11E-01 COSM976148 c.235C>T p.R79* Substitution - Nonsense 17:17884750-17884750 - SC_9076 COSM3818955 c.582G>A p.S194S Substitution - coding silent 17:17882783-17882783 - TCGA-CM-6171-01 COSM1381251 c.1346G>A p.R449Q Substitution - Missense 17:17847663-17847663 - 1115154 COSM3514812 c.1046G>A p.R349H Substitution - Missense 17:17862737-17862737 - TCGA-G9-6338-01 COSM3672365 c.1172G>T p.R391I Substitution - Missense 17:17862761-17862761 - T2583 COSM4735278 c.480G>A p.V160V Substitution - coding silent 17:17882735-17882735 - TCGA-AX-A0J1-01 COSM1588641 c.609G>A p.P203P Substitution - coding silent 17:17882756-17882756 - Pat_16_A COSM976148 c.235C>T p.R79* Substitution - Nonsense 17:17884750-17884750 - Pat_37_B COSM5851950 c.578C>T p.S193F Substitution - Missense 17:17882787-17882787 - TCGA-EP-A2KA-01 COSM4917166 c.164A>G p.K55R Substitution - Missense 17:17898648-17898648 - TCGA-ER-A19K-01 COSM3514813 c.1058C>T p.S353F Substitution - Missense 17:17866322-17866322 - BD72T COSM5513272 c.570G>T p.E190D Substitution - Missense 17:17879684-17879684 - TCGA-D9-A6EC-06 COSM4402331 c.942G>A p.G314G Substitution - coding silent 17:17862841-17862841 - S02376 COSM5696978 c.534G>T p.M178I Substitution - Missense 17:17882831-17882831 - TCGA-CM-6674-01 COSM1381254 c.388A>G p.R130G Substitution - Missense 17:17882827-17882827 - TCGA-BR-A4J8-01 COSM4064420 c.328T>G p.S110A Substitution - Missense 17:17884657-17884657 - TCGA-BR-4256-01 COSM1302468 c.1289C>T p.A430V Substitution - Missense 17:17850942-17850942 - TCGA-BS-A0TC-01 COSM1588643 c.1121C>A p.S374* Substitution - Nonsense 17:17862812-17862812 - TCGA-B0-5099-01 COSM472374 c.912C>A p.L304L Substitution - coding silent 17:17866318-17866318 - TCGA-ER-A193-06 COSM3514809 c.1389C>T p.F463F Substitution - coding silent 17:17847770-17847770 - TCGA-BR-4184-01 COSM4064416 c.1044G>A p.Q348Q Substitution - coding silent 17:17862739-17862739 - TCGA-CG-5726-01 COSM4064417 c.892G>A p.V298I Substitution - Missense 17:17869359-17869359 - TCGA-AA-A010-01 COSM285864 c.299A>C p.E100A Substitution - Missense 17:17884686-17884686 - 1115154 COSM3514811 c.1196G>A p.R399H Substitution - Missense 17:17862737-17862737 - TCGA-C5-A1M6-01 COSM4826747 c.825C>T p.L275L Substitution - coding silent 17:17869426-17869426 - TCGA-Q1-A5R3-01 COSM4834022 c.154C>T p.R52* Substitution - Nonsense 17:17898658-17898658 - TCGA-EE-A29A-06 COSM3514815 c.282C>T p.F94F Substitution - coding silent 17:17893745-17893745 - T2197 COSM4735276 c.685G>A p.V229M Substitution - Missense 17:17869416-17869416 - CSCC-37-T COSM4502803 c.472C>T p.L158L Substitution - coding silent 17:17882743-17882743 - T2197 COSM4735275 c.835G>A p.V279M Substitution - Missense 17:17869416-17869416 - TCGA-BP-4798-01 COSM3362009 c.116T>C p.I39T Substitution - Missense 17:17907468-17907468 - TCGA-CM-6171-01 COSM1381250 c.1496G>A p.R499Q Substitution - Missense 17:17847663-17847663 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.462379 17p11.2 2486206|CGAP|BC051650|C/T|non-coding||2000|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I39T c.116T>C 17 17810782 RCCC A G Synonymous p.L413L c.1239T>C 17 17764829 LUAD A - IntronicDeletion . c.1278+3626delT 17 17761164 RCCC C A Missense p.D445Y c.1333G>T 17 17754212 LUAD C A Missense p.R391I c.1172G>T 17 17766075 PRAD C T Missense p.E466K c.1396G>A 17 17751077 HNSC C T Missense p.G392E c.1175G>A 17 17766072 BRCA C T Missense p.R381H c.1142G>A 17 17766105 UCEC C T Missense p.R420Q c.1259G>A 17 17764809 SCLC C T Missense p.V298I c.892G>A 17 17772673 STAD G A Missense p.A430V c.1289C>T 17 17754256 BLCA G A Missense p.A430V c.1289C>T 17 17754256 STAD G A Missense p.P199L c.596C>T 17 17786083 CM G A Missense p.R399C c.1195C>T 17 17766052 STAD G A Missense p.S353F c.1058C>T 17 17769636 CM G A Synonymous p.F463F c.1389C>T 17 17751084 CM G A Synonymous p.F94F c.282C>T 17 17797059 CM G A Synonymous p.I95I c.285C>T 17 17797056 STAD G A Synonymous p.S394S c.1182C>T 17 17766065 CM G A Synonymous p.T285T c.855C>T 17 17772710 UCEC G A Synonymous p.V169V c.507C>T 17 17786172 BRCA G A Synonymous p.V284V c.852C>T 17 17772713 RCCC G T Nonsense p.S374* c.1121C>A 17 17766126 UCEC G T Synonymous p.L354L c.1062C>A 17 17769632 RCCC T A Missense p.E142V c.425A>T 17 17788024 HNSC T A Missense p.E18V c.53A>T 17 17810845 RCCC T C Missense p.T401A c.1201A>G 17 17766046 STAD