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 18 71740847 71740847 + Missense_Mutation SNP C C A TCGA-FD-A5BZ-01A-11D-A289-08 TCGA-FD-A5BZ-10A-01D-A289-08 g.chr18:71740847C>A c.1382G>T c.(1381-1383)gGa>gTa p.G461V BLCA 18 71797676 71797676 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr18:71797676G>A c.550C>T c.(550-552)Cca>Tca p.P184S BRCA 18 71740747 71740747 + Silent SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 g.chr18:71740747G>A c.1482C>T c.(1480-1482)gtC>gtT p.V494V BRCA 18 71740756 71740756 + Silent SNP G G C TCGA-D8-A1XW-01A-11D-A14K-09 TCGA-D8-A1XW-10A-01D-A14K-09 g.chr18:71740756G>C c.1473C>G c.(1471-1473)gtC>gtG p.V491V BRCA 18 71790623 71790623 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr18:71790623C>T c.1118G>A c.(1117-1119)cGc>cAc p.R373H BRCA 18 71797870 71797870 + Nonsense_Mutation SNP G G C TCGA-A2-A1FZ-01A-51D-A17G-09 TCGA-A2-A1FZ-10A-01D-A14G-09 g.chr18:71797870G>C c.356C>G c.(355-357)tCa>tGa p.S119* BRCA 18 71807443 71807443 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr18:71807443A>G c.221T>C c.(220-222)cTg>cCg p.L74P CESC 18 71790643 71790643 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr18:71790643G>A c.1098C>T c.(1096-1098)ttC>ttT p.F366F CESC 18 71791733 71791733 + Missense_Mutation SNP G G A TCGA-WL-A834-01A-11D-A351-09 TCGA-WL-A834-10A-01D-A351-09 g.chr18:71791733G>A c.986C>T c.(985-987)tCg>tTg p.S329L CESC 18 71793246 71793246 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr18:71793246G>A c.876C>T c.(874-876)ttC>ttT p.F292F CESC 18 71807467 71807467 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr18:71807467G>A c.197C>T c.(196-198)tCt>tTt p.S66F COAD 18 71740731 71740731 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr18:71740731C>T c.1498G>A c.(1498-1500)Gca>Aca p.A500T COAD 18 71740792 71740792 + Silent SNP C C T TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr18:71740792C>T c.1437G>A c.(1435-1437)ctG>ctA p.L479L COAD 18 71740792 71740792 + Silent SNP C C T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr18:71740792C>T c.1437G>A c.(1435-1437)ctG>ctA p.L479L COAD 18 71740793 71740793 + Missense_Mutation SNP A A G TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr18:71740793A>G c.1436T>C c.(1435-1437)cTg>cCg p.L479P COAD 18 71740834 71740834 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr18:71740834G>A c.1395C>T c.(1393-1395)aaC>aaT p.N465N COAD 18 71749177 71749177 + Frame_Shift_Del DEL A A - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:71749177delA c.1248delT c.(1246-1248)tttfs p.F416fs COAD 18 71790605 71790605 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr18:71790605C>A c.1136G>T c.(1135-1137)aGa>aTa p.R379I COAD 18 71790717 71790717 + Missense_Mutation SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr18:71790717A>G c.1024T>C c.(1024-1026)Ttt>Ctt p.F342L COAD 18 71791794 71791794 + Missense_Mutation SNP G G T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr18:71791794G>T c.925C>A c.(925-927)Ctg>Atg p.L309M COAD 18 71797881 71797881 + Silent SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr18:71797881G>A c.345C>T c.(343-345)atC>atT p.I115I COADREAD 18 71740731 71740731 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr18:71740731C>T c.1498G>A c.(1498-1500)Gca>Aca p.A500T COADREAD 18 71740792 71740792 + Silent SNP C C T TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr18:71740792C>T c.1437G>A c.(1435-1437)ctG>ctA p.L479L COADREAD 18 71740792 71740792 + Silent SNP C C T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr18:71740792C>T c.1437G>A c.(1435-1437)ctG>ctA p.L479L COADREAD 18 71740793 71740793 + Missense_Mutation SNP A A G TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr18:71740793A>G c.1436T>C c.(1435-1437)cTg>cCg p.L479P COADREAD 18 71740834 71740834 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr18:71740834G>A c.1395C>T c.(1393-1395)aaC>aaT p.N465N COADREAD 18 71740898 71740898 + Missense_Mutation SNP G G A TCGA-AG-3894-01A-01W-1073-09 TCGA-AG-3894-10A-01W-1073-09 g.chr18:71740898G>A c.1331C>T c.(1330-1332)cCg>cTg p.P444L COADREAD 18 71740902 71740902 + Missense_Mutation SNP A A G TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr18:71740902A>G c.1327T>C c.(1327-1329)Tcc>Ccc p.S443P COADREAD 18 71740947 71740947 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr18:71740947C>T c.1282G>A c.(1282-1284)Gta>Ata p.V428I COADREAD 18 71749177 71749177 + Frame_Shift_Del DEL A A - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr18:71749177delA c.1248delT c.(1246-1248)tttfs p.F416fs COADREAD 18 71790605 71790605 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr18:71790605C>A c.1136G>T c.(1135-1137)aGa>aTa p.R379I COADREAD 18 71790624 71790624 + Missense_Mutation SNP G G A TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr18:71790624G>A c.1117C>T c.(1117-1119)Cgc>Tgc p.R373C COADREAD 18 71790717 71790717 + Missense_Mutation SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr18:71790717A>G c.1024T>C c.(1024-1026)Ttt>Ctt p.F342L COADREAD 18 71791794 71791794 + Missense_Mutation SNP G G T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr18:71791794G>T c.925C>A c.(925-927)Ctg>Atg p.L309M COADREAD 18 71797881 71797881 + Silent SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr18:71797881G>A c.345C>T c.(343-345)atC>atT p.I115I DLBC 18 71749236 71749236 + Missense_Mutation SNP T T A TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr18:71749236T>A c.1189A>T c.(1189-1191)Aac>Tac p.N397Y ESCA 18 71740727 71740727 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr18:71740727T>A c.1502A>T c.(1501-1503)aAa>aTa p.K501I ESCA 18 71740731 71740731 + Missense_Mutation SNP C C T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr18:71740731C>T c.1498G>A c.(1498-1500)Gca>Aca p.A500T ESCA 18 71749238 71749238 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr18:71749238delT c.1187delA c.(1186-1188)aatfs p.N397fs ESCA 18 71797743 71797743 + Frame_Shift_Del DEL T T - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr18:71797743delT c.483delA c.(481-483)aaafs p.K161fs ESCA 18 71803093 71803093 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr18:71803093G>A c.236C>T c.(235-237)tCa>tTa p.S79L ESCA 18 71814970 71814970 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr18:71814970C>G c.51G>C c.(49-51)caG>caC p.Q17H GBM 18 71790685 71790685 + Silent SNP G G A TCGA-06-0137-01A-01D-1490-08 TCGA-06-0137-10A-01D-1490-08 g.chr18:71790685G>A c.1056C>T c.(1054-1056)caC>caT p.H352H GBM 18 71791770 71791770 + Missense_Mutation SNP G G C TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 g.chr18:71791770G>C c.949C>G c.(949-951)Cat>Gat p.H317D GBMLGG 18 71740801 71740801 + Silent SNP G G A TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 g.chr18:71740801G>A c.1428C>T c.(1426-1428)caC>caT p.H476H GBMLGG 18 71740936 71740936 + Silent SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chr18:71740936C>T c.1293G>A c.(1291-1293)ttG>ttA p.L431L GBMLGG 18 71790685 71790685 + Silent SNP G G A TCGA-06-0137-01A-01D-1490-08 TCGA-06-0137-10A-01D-1490-08 g.chr18:71790685G>A c.1056C>T c.(1054-1056)caC>caT p.H352H GBMLGG 18 71791770 71791770 + Missense_Mutation SNP G G C TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 g.chr18:71791770G>C c.949C>G c.(949-951)Cat>Gat p.H317D HNSC 18 71749185 71749185 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr18:71749185C>T c.1240G>A c.(1240-1242)Gat>Aat p.D414N HNSC 18 71797839 71797839 + Nonsense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 g.chr18:71797839C>T c.387G>A c.(385-387)tgG>tgA p.W129* LGG 18 71740801 71740801 + Silent SNP G G A TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 g.chr18:71740801G>A c.1428C>T c.(1426-1428)caC>caT p.H476H LGG 18 71740936 71740936 + Silent SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chr18:71740936C>T c.1293G>A c.(1291-1293)ttG>ttA p.L431L LIHC 18 71749166 71749166 + Missense_Mutation SNP A A T TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr18:71749166A>T c.1259T>A c.(1258-1260)aTa>aAa p.I420K LIHC 18 71791775 71791775 + Missense_Mutation SNP T T C TCGA-UB-AA0U-01A-11D-A382-10 TCGA-UB-AA0U-10A-01D-A385-10 g.chr18:71791775T>C c.944A>G c.(943-945)aAt>aGt p.N315S LUAD 18 71740725 71740725 + Frame_Shift_Del DEL T T - TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr18:71740725delT c.1504delA c.(1504-1506)atcfs p.I502fs LUAD 18 71740732 71740732 + Silent SNP G G A TCGA-17-Z061-01A-01W-0747-08 TCGA-17-Z061-11A-01W-0747-08 g.chr18:71740732G>A c.1497C>T c.(1495-1497)atC>atT p.I499I LUAD 18 71793305 71793305 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 g.chr18:71793305T>A c.817A>T c.(817-819)Aat>Tat p.N273Y LUAD 18 71796717 71796717 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr18:71796717T>C c.708A>G c.(706-708)ctA>ctG p.L236L LUAD 18 71796748 71796748 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr18:71796748A>G c.677T>C c.(676-678)gTt>gCt p.V226A LUAD 18 71797722 71797722 + Silent SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr18:71797722G>A c.504C>T c.(502-504)gcC>gcT p.A168A LUAD 18 71797821 71797821 + Silent SNP C C T TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr18:71797821C>T c.405G>A c.(403-405)gaG>gaA p.E135E LUSC 18 71740710 71740710 + Missense_Mutation SNP C C A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr18:71740710C>A c.1519G>T c.(1519-1521)Ggg>Tgg p.G507W LUSC 18 71740764 71740764 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr18:71740764G>T c.1465C>A c.(1465-1467)Ctt>Att p.L489I LUSC 18 71740911 71740911 + Missense_Mutation SNP A A C TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr18:71740911A>C c.1318T>G c.(1318-1320)Tgt>Ggt p.C440G LUSC 18 71793322 71793322 + Missense_Mutation SNP G G C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr18:71793322G>C c.800C>G c.(799-801)tCt>tGt p.S267C LUSC 18 71796839 71796839 + Silent SNP A A G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr18:71796839A>G c.586T>C c.(586-588)Tta>Cta p.L196L LUSC 18 71797764 71797764 + Missense_Mutation SNP C C A TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr18:71797764C>A c.462G>T c.(460-462)tgG>tgT p.W154C OV 18 71740792 71740792 + Silent SNP C C A TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 g.chr18:71740792C>A c.1437G>T c.(1435-1437)ctG>ctT p.L479L OV 18 71793283 71793283 + Missense_Mutation SNP G G C TCGA-24-1422-01A-01W-0545-08 TCGA-24-1422-10A-01W-0545-08 g.chr18:71793283G>C c.839C>G c.(838-840)tCt>tGt p.S280C PAAD 18 71749238 71749238 + Frame_Shift_Del DEL T T - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:71749238delT c.1187delA c.(1186-1188)aatfs p.N397fs PAAD 18 71790624 71790624 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 g.chr18:71790624G>A c.1117C>T c.(1117-1119)Cgc>Tgc p.R373C PAAD 18 71796836 71796836 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:71796836C>A c.589G>T c.(589-591)Ggt>Tgt p.G197C PCPG 18 71740825 71740825 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 g.chr18:71740825G>A c.1404C>T c.(1402-1404)taC>taT p.Y468Y PRAD 18 71790685 71790685 + Silent SNP G G A TCGA-HC-7209-01A-11D-2114-08 TCGA-HC-7209-10A-01D-2115-08 g.chr18:71790685G>A c.1056C>T c.(1054-1056)caC>caT p.H352H READ 18 71740898 71740898 + Missense_Mutation SNP G G A TCGA-AG-3894-01A-01W-1073-09 TCGA-AG-3894-10A-01W-1073-09 g.chr18:71740898G>A c.1331C>T c.(1330-1332)cCg>cTg p.P444L READ 18 71740902 71740902 + Missense_Mutation SNP A A G TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr18:71740902A>G c.1327T>C c.(1327-1329)Tcc>Ccc p.S443P READ 18 71740947 71740947 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr18:71740947C>T c.1282G>A c.(1282-1284)Gta>Ata p.V428I READ 18 71790624 71790624 + Missense_Mutation SNP G G A TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr18:71790624G>A c.1117C>T c.(1117-1119)Cgc>Tgc p.R373C SKCM 18 71740773 71740773 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr18:71740773C>T c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K SKCM 18 71740773 71740773 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr18:71740773C>T c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K SKCM 18 71740870 71740870 + Silent SNP G G C TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:71740870G>C c.1359C>G c.(1357-1359)ccC>ccG p.P453P SKCM 18 71740901 71740901 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr18:71740901G>A c.1328C>T c.(1327-1329)tCc>tTc p.S443F SKCM 18 71740925 71740925 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr18:71740925C>T c.1304G>A c.(1303-1305)gGg>gAg p.G435E SKCM 18 71749176 71749176 + Missense_Mutation SNP C C T TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr18:71749176C>T c.1249G>A c.(1249-1251)Gat>Aat p.D417N SKCM 18 71790672 71790672 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr18:71790672G>A c.1069C>T c.(1069-1071)Cat>Tat p.H357Y SKCM 18 71790711 71790711 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr18:71790711C>T c.1030G>A c.(1030-1032)Gat>Aat p.D344N SKCM 18 71791797 71791797 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr18:71791797C>T c.922G>A c.(922-924)Gaa>Aaa p.E308K SKCM 18 71796724 71796724 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:71796724G>A c.701C>T c.(700-702)cCa>cTa p.P234L SKCM 18 71796734 71796734 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr18:71796734T>C c.691A>G c.(691-693)Aaa>Gaa p.K231E SKCM 18 71796789 71796789 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:71796789C>T c.636G>A c.(634-636)atG>atA p.M212I SKCM 18 71797676 71797676 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:71797676G>A c.550C>T c.(550-552)Cca>Tca p.P184S SKCM 18 71797846 71797846 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr18:71797846G>A c.380C>T c.(379-381)tCa>tTa p.S127L SKCM 18 71797881 71797881 + Silent SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr18:71797881G>A c.345C>T c.(343-345)atC>atT p.I115I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 71797676 71797676 single base substitution G A 3_prime_UTR_variant BLCA-US 18 71797676 71797676 single base substitution G A downstream_gene_variant BLCA-US 18 71797676 71797676 single base substitution G A intron_variant BLCA-US 18 71797676 71797676 single base substitution G A missense_variant P108S 322C>T BLCA-US 18 71797676 71797676 single base substitution G A missense_variant P184S 550C>T BLCA-US 18 71797676 71797676 single base substitution G A upstream_gene_variant BRCA-EU 18 71735902 71735902 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 71737810 71737810 single base substitution C A downstream_gene_variant BRCA-EU 18 71738864 71738864 single base substitution G C downstream_gene_variant BRCA-EU 18 71740238 71740238 single base substitution G C downstream_gene_variant BRCA-EU 18 71741403 71741403 single base substitution C T intron_variant BRCA-EU 18 71741610 71741610 single base substitution G C intron_variant BRCA-EU 18 71742810 71742810 deletion of <=200bp T - intron_variant BRCA-EU 18 71742859 71742859 single base substitution C A intron_variant BRCA-EU 18 71743980 71743980 single base substitution A T intron_variant BRCA-EU 18 71745570 71745570 single base substitution C A intron_variant BRCA-EU 18 71745831 71745831 deletion of <=200bp G - exon_variant BRCA-EU 18 71745831 71745831 deletion of <=200bp G - intron_variant BRCA-EU 18 71747072 71747072 single base substitution A T intron_variant BRCA-EU 18 71747072 71747072 single base substitution A T upstream_gene_variant BRCA-EU 18 71748010 71748010 single base substitution C T intron_variant BRCA-EU 18 71748010 71748010 single base substitution C T upstream_gene_variant BRCA-EU 18 71748348 71748348 single base substitution C G intron_variant BRCA-EU 18 71748348 71748348 single base substitution C G upstream_gene_variant BRCA-EU 18 71749471 71749471 single base substitution G C intron_variant BRCA-EU 18 71749471 71749471 single base substitution G C upstream_gene_variant BRCA-EU 18 71751242 71751242 single base substitution C T intron_variant BRCA-EU 18 71751242 71751242 single base substitution C T upstream_gene_variant BRCA-EU 18 71751958 71751958 single base substitution C A intron_variant BRCA-EU 18 71751958 71751958 single base substitution C A upstream_gene_variant BRCA-EU 18 71752367 71752367 single base substitution A T intron_variant BRCA-EU 18 71752367 71752367 single base substitution A T upstream_gene_variant BRCA-EU 18 71752773 71752773 single base substitution A C intron_variant BRCA-EU 18 71752773 71752773 single base substitution A C upstream_gene_variant BRCA-EU 18 71753123 71753123 single base substitution T G intron_variant BRCA-EU 18 71753123 71753123 single base substitution T G upstream_gene_variant BRCA-EU 18 71753248 71753248 single base substitution C A intron_variant BRCA-EU 18 71753248 71753248 single base substitution C A upstream_gene_variant BRCA-EU 18 71753638 71753638 single base substitution C G intron_variant BRCA-EU 18 71753638 71753638 single base substitution C G upstream_gene_variant BRCA-EU 18 71755239 71755239 single base substitution T C intron_variant BRCA-EU 18 71755925 71755925 single base substitution T A intron_variant BRCA-EU 18 71756148 71756148 single base substitution G A intron_variant BRCA-EU 18 71756278 71756278 single base substitution T G intron_variant BRCA-EU 18 71756904 71756904 single base substitution G A intron_variant BRCA-EU 18 71757393 71757393 single base substitution G A intron_variant BRCA-EU 18 71758815 71758815 single base substitution G C intron_variant BRCA-EU 18 71759521 71759521 single base substitution A T intron_variant BRCA-EU 18 71759930 71759930 single base substitution T G intron_variant BRCA-EU 18 71761019 71761019 single base substitution G C intron_variant BRCA-EU 18 71762712 71762712 single base substitution C A intron_variant BRCA-EU 18 71762719 71762719 single base substitution G A intron_variant BRCA-EU 18 71762870 71762870 single base substitution C T intron_variant BRCA-EU 18 71763025 71763025 single base substitution T C intron_variant BRCA-EU 18 71763759 71763759 deletion of <=200bp A - intron_variant BRCA-EU 18 71763759 71763759 insertion of <=200bp - A intron_variant BRCA-EU 18 71765188 71765188 single base substitution C G exon_variant BRCA-EU 18 71765188 71765188 single base substitution C G intron_variant BRCA-EU 18 71765188 71765188 single base substitution C G upstream_gene_variant BRCA-EU 18 71767164 71767164 single base substitution G A exon_variant BRCA-EU 18 71767164 71767164 single base substitution G A intron_variant BRCA-EU 18 71767164 71767164 single base substitution G A upstream_gene_variant BRCA-EU 18 71767389 71767389 single base substitution C A intron_variant BRCA-EU 18 71767389 71767389 single base substitution C A upstream_gene_variant BRCA-EU 18 71768073 71768073 single base substitution A G intron_variant BRCA-EU 18 71768073 71768073 single base substitution A G upstream_gene_variant BRCA-EU 18 71768323 71768323 single base substitution G T intron_variant BRCA-EU 18 71768323 71768323 single base substitution G T upstream_gene_variant BRCA-EU 18 71769590 71769590 single base substitution G A intron_variant BRCA-EU 18 71769590 71769590 single base substitution G A upstream_gene_variant BRCA-EU 18 71770464 71770464 single base substitution G C intron_variant BRCA-EU 18 71770464 71770464 single base substitution G C upstream_gene_variant BRCA-EU 18 71775737 71775737 single base substitution G T intron_variant BRCA-EU 18 71775757 71775757 single base substitution G A intron_variant BRCA-EU 18 71776343 71776343 single base substitution G C intron_variant BRCA-EU 18 71779142 71779142 single base substitution A G intron_variant BRCA-EU 18 71779855 71779855 single base substitution T C intron_variant BRCA-EU 18 71780423 71780423 single base substitution G C intron_variant BRCA-EU 18 71786035 71786035 single base substitution T C downstream_gene_variant BRCA-EU 18 71786035 71786035 single base substitution T C intron_variant BRCA-EU 18 71786618 71786618 single base substitution G T downstream_gene_variant BRCA-EU 18 71786618 71786618 single base substitution G T intron_variant BRCA-EU 18 71786847 71786847 single base substitution C G downstream_gene_variant BRCA-EU 18 71786847 71786847 single base substitution C G intron_variant BRCA-EU 18 71787275 71787275 single base substitution A G downstream_gene_variant BRCA-EU 18 71787275 71787275 single base substitution A G intron_variant BRCA-EU 18 71787714 71787714 single base substitution G C downstream_gene_variant BRCA-EU 18 71787714 71787714 single base substitution G C intron_variant BRCA-EU 18 71789041 71789041 single base substitution T C downstream_gene_variant BRCA-EU 18 71789041 71789041 single base substitution T C intron_variant BRCA-EU 18 71789290 71789290 single base substitution A G downstream_gene_variant BRCA-EU 18 71789290 71789290 single base substitution A G intron_variant BRCA-EU 18 71789353 71789353 single base substitution G C downstream_gene_variant BRCA-EU 18 71789353 71789353 single base substitution G C intron_variant BRCA-EU 18 71789852 71789852 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 71789852 71789852 single base substitution G A intron_variant BRCA-EU 18 71789988 71789988 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 71789988 71789988 single base substitution G A intron_variant BRCA-EU 18 71790413 71790413 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 71790413 71790413 single base substitution C T intron_variant BRCA-EU 18 71792125 71792125 single base substitution T G downstream_gene_variant BRCA-EU 18 71792125 71792125 single base substitution T G intron_variant BRCA-EU 18 71792125 71792125 single base substitution T G upstream_gene_variant BRCA-EU 18 71792498 71792498 single base substitution G A downstream_gene_variant BRCA-EU 18 71792498 71792498 single base substitution G A intron_variant BRCA-EU 18 71792498 71792498 single base substitution G A upstream_gene_variant BRCA-EU 18 71792869 71792869 single base substitution G T downstream_gene_variant BRCA-EU 18 71792869 71792869 single base substitution G T intron_variant BRCA-EU 18 71792869 71792869 single base substitution G T upstream_gene_variant BRCA-EU 18 71794174 71794174 single base substitution G A downstream_gene_variant BRCA-EU 18 71794174 71794174 single base substitution G A intron_variant BRCA-EU 18 71794174 71794174 single base substitution G A upstream_gene_variant BRCA-EU 18 71794727 71794727 single base substitution G A downstream_gene_variant BRCA-EU 18 71794727 71794727 single base substitution G A intron_variant BRCA-EU 18 71794727 71794727 single base substitution G A upstream_gene_variant BRCA-EU 18 71796026 71796026 single base substitution G C downstream_gene_variant BRCA-EU 18 71796026 71796026 single base substitution G C intron_variant BRCA-EU 18 71796069 71796069 single base substitution T A downstream_gene_variant BRCA-EU 18 71796069 71796069 single base substitution T A intron_variant BRCA-EU 18 71796718 71796718 single base substitution A G 3_prime_UTR_variant BRCA-EU 18 71796718 71796718 single base substitution A G downstream_gene_variant BRCA-EU 18 71796718 71796718 single base substitution A G intron_variant BRCA-EU 18 71796718 71796718 single base substitution A G missense_variant L160P 479T>C BRCA-EU 18 71796718 71796718 single base substitution A G missense_variant L236P 707T>C BRCA-EU 18 71796718 71796718 single base substitution A G upstream_gene_variant BRCA-EU 18 71796733 71796733 single base substitution T C 3_prime_UTR_variant BRCA-EU 18 71796733 71796733 single base substitution T C downstream_gene_variant BRCA-EU 18 71796733 71796733 single base substitution T C intron_variant BRCA-EU 18 71796733 71796733 single base substitution T C missense_variant K155R 464A>G BRCA-EU 18 71796733 71796733 single base substitution T C missense_variant K231R 692A>G BRCA-EU 18 71796733 71796733 single base substitution T C upstream_gene_variant BRCA-EU 18 71796860 71796860 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 71796860 71796860 deletion of <=200bp A - intron_variant BRCA-EU 18 71796860 71796860 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 71796933 71796933 single base substitution A T downstream_gene_variant BRCA-EU 18 71796933 71796933 single base substitution A T intron_variant BRCA-EU 18 71796933 71796933 single base substitution A T upstream_gene_variant BRCA-EU 18 71797443 71797443 insertion of <=200bp - C downstream_gene_variant BRCA-EU 18 71797443 71797443 insertion of <=200bp - C intron_variant BRCA-EU 18 71797443 71797443 insertion of <=200bp - C upstream_gene_variant BRCA-EU 18 71798173 71798173 single base substitution C T intron_variant BRCA-EU 18 71798173 71798173 single base substitution C T upstream_gene_variant BRCA-EU 18 71799669 71799669 single base substitution G A intron_variant BRCA-EU 18 71799669 71799669 single base substitution G A upstream_gene_variant BRCA-EU 18 71801228 71801228 single base substitution G A intron_variant BRCA-EU 18 71801228 71801228 single base substitution G A upstream_gene_variant BRCA-EU 18 71801591 71801591 single base substitution G A intron_variant BRCA-EU 18 71801591 71801591 single base substitution G A upstream_gene_variant BRCA-EU 18 71801937 71801937 single base substitution A G intron_variant BRCA-EU 18 71804047 71804047 single base substitution G A intron_variant BRCA-EU 18 71804047 71804047 single base substitution G A upstream_gene_variant BRCA-EU 18 71804072 71804072 single base substitution T C intron_variant BRCA-EU 18 71804072 71804072 single base substitution T C upstream_gene_variant BRCA-EU 18 71805080 71805080 single base substitution C T intron_variant BRCA-EU 18 71805080 71805080 single base substitution C T upstream_gene_variant BRCA-EU 18 71806035 71806035 single base substitution C G intron_variant BRCA-EU 18 71806035 71806035 single base substitution C G upstream_gene_variant BRCA-EU 18 71806505 71806505 single base substitution G A intron_variant BRCA-EU 18 71806505 71806505 single base substitution G A upstream_gene_variant BRCA-EU 18 71807077 71807077 deletion of <=200bp A - intron_variant BRCA-EU 18 71807077 71807077 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 71811118 71811118 single base substitution G C intron_variant BRCA-EU 18 71812992 71812992 single base substitution C T intron_variant BRCA-EU 18 71813174 71813174 single base substitution C T intron_variant BRCA-EU 18 71815555 71815555 single base substitution C T upstream_gene_variant BRCA-EU 18 71818425 71818425 single base substitution C T upstream_gene_variant BRCA-EU 18 71818527 71818527 single base substitution G C upstream_gene_variant BRCA-EU 18 71819616 71819616 single base substitution G T upstream_gene_variant BRCA-FR 18 71738864 71738864 single base substitution G C downstream_gene_variant BRCA-FR 18 71755239 71755239 single base substitution T C intron_variant BRCA-FR 18 71757393 71757393 single base substitution G A intron_variant BRCA-FR 18 71763362 71763362 single base substitution C A intron_variant BRCA-FR 18 71768323 71768323 single base substitution G T intron_variant BRCA-FR 18 71768323 71768323 single base substitution G T upstream_gene_variant BRCA-FR 18 71769415 71769415 single base substitution G C intron_variant BRCA-FR 18 71769415 71769415 single base substitution G C upstream_gene_variant BRCA-FR 18 71789988 71789988 single base substitution G A 3_prime_UTR_variant BRCA-FR 18 71789988 71789988 single base substitution G A intron_variant BRCA-FR 18 71792498 71792498 single base substitution G A downstream_gene_variant BRCA-FR 18 71792498 71792498 single base substitution G A intron_variant BRCA-FR 18 71792498 71792498 single base substitution G A upstream_gene_variant BRCA-FR 18 71796933 71796933 single base substitution A T downstream_gene_variant BRCA-FR 18 71796933 71796933 single base substitution A T intron_variant BRCA-FR 18 71796933 71796933 single base substitution A T upstream_gene_variant BRCA-FR 18 71818425 71818425 single base substitution C T upstream_gene_variant BRCA-UK 18 71743980 71743980 single base substitution A T intron_variant BRCA-UK 18 71744915 71744915 single base substitution G A intron_variant BRCA-UK 18 71779482 71779482 single base substitution G C intron_variant BRCA-UK 18 71807909 71807909 single base substitution G A intron_variant BRCA-UK 18 71807909 71807909 single base substitution G A upstream_gene_variant BRCA-US 18 71740747 71740747 single base substitution G A 3_prime_UTR_variant BRCA-US 18 71740747 71740747 single base substitution G A exon_variant BRCA-US 18 71740747 71740747 single base substitution G A synonymous_variant V418V 1254C>T BRCA-US 18 71740747 71740747 single base substitution G A synonymous_variant V494V 1482C>T BRCA-US 18 71740756 71740756 single base substitution G C 3_prime_UTR_variant BRCA-US 18 71740756 71740756 single base substitution G C exon_variant BRCA-US 18 71740756 71740756 single base substitution G C synonymous_variant V415V 1245C>G BRCA-US 18 71740756 71740756 single base substitution G C synonymous_variant V491V 1473C>G BRCA-US 18 71790623 71790623 single base substitution C T 3_prime_UTR_variant BRCA-US 18 71790623 71790623 single base substitution C T missense_variant R112H 335G>A BRCA-US 18 71790623 71790623 single base substitution C T missense_variant R297H 890G>A BRCA-US 18 71790623 71790623 single base substitution C T missense_variant R373H 1118G>A BRCA-US 18 71790623 71790623 single base substitution C T missense_variant R41H 122G>A BRCA-US 18 71797870 71797870 single base substitution G C 3_prime_UTR_variant BRCA-US 18 71797870 71797870 single base substitution G C intron_variant BRCA-US 18 71797870 71797870 single base substitution G C stop_gained S119* 356C>G BRCA-US 18 71797870 71797870 single base substitution G C stop_gained S43* 128C>G BRCA-US 18 71797870 71797870 single base substitution G C stop_gained S82* 245C>G BRCA-US 18 71797870 71797870 single base substitution G C upstream_gene_variant BRCA-US 18 71807443 71807443 single base substitution A G 3_prime_UTR_variant BRCA-US 18 71807443 71807443 single base substitution A G 5_prime_UTR_variant BRCA-US 18 71807443 71807443 single base substitution A G intron_variant BRCA-US 18 71807443 71807443 single base substitution A G missense_variant L74P 221T>C BRCA-US 18 71807443 71807443 single base substitution A G upstream_gene_variant BRCA-US 18 71816215 71816215 single base substitution C A upstream_gene_variant BRCA-US 18 71816295 71816296 deletion of <=200bp TG - upstream_gene_variant BTCA-JP 18 71740957 71740957 single base substitution G A 3_prime_UTR_variant BTCA-JP 18 71740957 71740957 single base substitution G A exon_variant BTCA-JP 18 71740957 71740957 single base substitution G A intron_variant BTCA-JP 18 71740957 71740957 single base substitution G A synonymous_variant S348S 1044C>T BTCA-JP 18 71740957 71740957 single base substitution G A synonymous_variant S424S 1272C>T CESC-US 18 71790643 71790643 single base substitution G A 3_prime_UTR_variant CESC-US 18 71790643 71790643 single base substitution G A synonymous_variant F105F 315C>T CESC-US 18 71790643 71790643 single base substitution G A synonymous_variant F290F 870C>T CESC-US 18 71790643 71790643 single base substitution G A synonymous_variant F34F 102C>T CESC-US 18 71790643 71790643 single base substitution G A synonymous_variant F366F 1098C>T CESC-US 18 71791733 71791733 single base substitution G A 3_prime_UTR_variant CESC-US 18 71791733 71791733 single base substitution G A missense_variant S253L 758C>T CESC-US 18 71791733 71791733 single base substitution G A missense_variant S329L 986C>T CESC-US 18 71791733 71791733 single base substitution G A missense_variant S68L 203C>T CESC-US 18 71791733 71791733 single base substitution G A upstream_gene_variant CESC-US 18 71793246 71793246 single base substitution G A 3_prime_UTR_variant CESC-US 18 71793246 71793246 single base substitution G A downstream_gene_variant CESC-US 18 71793246 71793246 single base substitution G A intron_variant CESC-US 18 71793246 71793246 single base substitution G A synonymous_variant F216F 648C>T CESC-US 18 71793246 71793246 single base substitution G A synonymous_variant F292F 876C>T CESC-US 18 71793246 71793246 single base substitution G A synonymous_variant F31F 93C>T CESC-US 18 71793246 71793246 single base substitution G A upstream_gene_variant CESC-US 18 71807467 71807467 single base substitution G A 3_prime_UTR_variant CESC-US 18 71807467 71807467 single base substitution G A 5_prime_UTR_variant CESC-US 18 71807467 71807467 single base substitution G A intron_variant CESC-US 18 71807467 71807467 single base substitution G A missense_variant S66F 197C>T CESC-US 18 71807467 71807467 single base substitution G A upstream_gene_variant CLLE-ES 18 71736096 71736096 single base substitution T C downstream_gene_variant CLLE-ES 18 71756694 71756694 single base substitution G C intron_variant CLLE-ES 18 71783449 71783449 single base substitution G T intron_variant CLLE-ES 18 71811442 71811442 single base substitution C G intron_variant COAD-US 18 71749177 71749177 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 18 71749177 71749177 deletion of <=200bp A - exon_variant COAD-US 18 71749177 71749177 deletion of <=200bp A - frameshift_variant F340 COAD-US 18 71749177 71749177 deletion of <=200bp A - frameshift_variant F416 COAD-US 18 71749177 71749177 deletion of <=200bp A - frameshift_variant F84 COAD-US 18 71749177 71749177 deletion of <=200bp A - upstream_gene_variant COAD-US 18 71790605 71790605 single base substitution C A missense_variant R118I 353G>T COAD-US 18 71790605 71790605 single base substitution C A missense_variant R303I 908G>T COAD-US 18 71790605 71790605 single base substitution C A missense_variant R379I 1136G>T COAD-US 18 71790605 71790605 single base substitution C A missense_variant R47I 140G>T COAD-US 18 71790605 71790605 single base substitution C A splice_region_variant COAD-US 18 71790717 71790717 single base substitution A G 3_prime_UTR_variant COAD-US 18 71790717 71790717 single base substitution A G missense_variant F10L 28T>C COAD-US 18 71790717 71790717 single base substitution A G missense_variant F266L 796T>C COAD-US 18 71790717 71790717 single base substitution A G missense_variant F342L 1024T>C COAD-US 18 71790717 71790717 single base substitution A G missense_variant F81L 241T>C COAD-US 18 71797881 71797881 single base substitution G A 3_prime_UTR_variant COAD-US 18 71797881 71797881 single base substitution G A intron_variant COAD-US 18 71797881 71797881 single base substitution G A synonymous_variant I115I 345C>T COAD-US 18 71797881 71797881 single base substitution G A synonymous_variant I39I 117C>T COAD-US 18 71797881 71797881 single base substitution G A synonymous_variant I78I 234C>T COAD-US 18 71797881 71797881 single base substitution G A upstream_gene_variant COAD-US 18 71814978 71814978 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 18 71814978 71814978 single base substitution C A exon_variant COAD-US 18 71814978 71814978 single base substitution C A missense_variant G15C 43G>T COAD-US 18 71814978 71814978 single base substitution C A upstream_gene_variant COCA-CN 18 71790532 71790532 single base substitution C T 3_prime_UTR_variant COCA-CN 18 71790532 71790532 single base substitution C T intron_variant COCA-CN 18 71790663 71790663 single base substitution G A 3_prime_UTR_variant COCA-CN 18 71790663 71790663 single base substitution G A synonymous_variant L284L 850C>T COCA-CN 18 71790663 71790663 single base substitution G A synonymous_variant L28L 82C>T COCA-CN 18 71790663 71790663 single base substitution G A synonymous_variant L360L 1078C>T COCA-CN 18 71790663 71790663 single base substitution G A synonymous_variant L99L 295C>T COCA-CN 18 71791797 71791797 single base substitution C A 3_prime_UTR_variant COCA-CN 18 71791797 71791797 single base substitution C A downstream_gene_variant COCA-CN 18 71791797 71791797 single base substitution C A stop_gained E232* 694G>T COCA-CN 18 71791797 71791797 single base substitution C A stop_gained E308* 922G>T COCA-CN 18 71791797 71791797 single base substitution C A stop_gained E47* 139G>T COCA-CN 18 71791797 71791797 single base substitution C A upstream_gene_variant COCA-CN 18 71796800 71796800 single base substitution C A 3_prime_UTR_variant COCA-CN 18 71796800 71796800 single base substitution C A downstream_gene_variant COCA-CN 18 71796800 71796800 single base substitution C A intron_variant COCA-CN 18 71796800 71796800 single base substitution C A stop_gained E133* 397G>T COCA-CN 18 71796800 71796800 single base substitution C A stop_gained E209* 625G>T COCA-CN 18 71796800 71796800 single base substitution C A upstream_gene_variant COCA-CN 18 71807481 71807481 single base substitution C A 3_prime_UTR_variant COCA-CN 18 71807481 71807481 single base substitution C A 5_prime_UTR_variant COCA-CN 18 71807481 71807481 single base substitution C A intron_variant COCA-CN 18 71807481 71807481 single base substitution C A missense_variant Q61H 183G>T COCA-CN 18 71807481 71807481 single base substitution C A upstream_gene_variant COCA-CN 18 71807574 71807574 single base substitution T G intron_variant COCA-CN 18 71807574 71807574 single base substitution T G upstream_gene_variant COCA-CN 18 71807621 71807621 single base substitution T C intron_variant COCA-CN 18 71807621 71807621 single base substitution T C upstream_gene_variant COCA-CN 18 71815145 71815145 single base substitution C G upstream_gene_variant COCA-CN 18 71815994 71815994 single base substitution T G upstream_gene_variant ESAD-UK 18 71735602 71735602 single base substitution C G downstream_gene_variant ESAD-UK 18 71736886 71736886 single base substitution G A downstream_gene_variant ESAD-UK 18 71736958 71736958 single base substitution C T downstream_gene_variant ESAD-UK 18 71737074 71737074 single base substitution C T downstream_gene_variant ESAD-UK 18 71737700 71737700 single base substitution T C downstream_gene_variant ESAD-UK 18 71738155 71738155 single base substitution C T downstream_gene_variant ESAD-UK 18 71738165 71738165 single base substitution T A downstream_gene_variant ESAD-UK 18 71738999 71738999 single base substitution C T downstream_gene_variant ESAD-UK 18 71740388 71740388 single base substitution C T downstream_gene_variant ESAD-UK 18 71740731 71740731 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 71740731 71740731 single base substitution C T downstream_gene_variant ESAD-UK 18 71740731 71740731 single base substitution C T exon_variant ESAD-UK 18 71740731 71740731 single base substitution C T missense_variant A424T 1270G>A ESAD-UK 18 71740731 71740731 single base substitution C T missense_variant A500T 1498G>A ESAD-UK 18 71740817 71740817 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 71740817 71740817 single base substitution G A exon_variant ESAD-UK 18 71740817 71740817 single base substitution G A missense_variant A395V 1184C>T ESAD-UK 18 71740817 71740817 single base substitution G A missense_variant A471V 1412C>T ESAD-UK 18 71741316 71741316 single base substitution C G intron_variant ESAD-UK 18 71741686 71741686 single base substitution T G intron_variant ESAD-UK 18 71742562 71742562 single base substitution G A intron_variant ESAD-UK 18 71745323 71745323 single base substitution C T intron_variant ESAD-UK 18 71745573 71745573 single base substitution C T intron_variant ESAD-UK 18 71745831 71745831 deletion of <=200bp G - exon_variant ESAD-UK 18 71745831 71745831 deletion of <=200bp G - intron_variant ESAD-UK 18 71746007 71746007 single base substitution A G intron_variant ESAD-UK 18 71746007 71746007 single base substitution A G upstream_gene_variant ESAD-UK 18 71746532 71746532 single base substitution A C intron_variant ESAD-UK 18 71746532 71746532 single base substitution A C upstream_gene_variant ESAD-UK 18 71746834 71746834 single base substitution G C intron_variant ESAD-UK 18 71746834 71746834 single base substitution G C upstream_gene_variant ESAD-UK 18 71747469 71747469 single base substitution C A intron_variant ESAD-UK 18 71747469 71747469 single base substitution C A upstream_gene_variant ESAD-UK 18 71748069 71748069 single base substitution C T intron_variant ESAD-UK 18 71748069 71748069 single base substitution C T upstream_gene_variant ESAD-UK 18 71754571 71754571 single base substitution A C intron_variant ESAD-UK 18 71754812 71754812 single base substitution C A intron_variant ESAD-UK 18 71755385 71755385 single base substitution G T intron_variant ESAD-UK 18 71755413 71755413 single base substitution T A intron_variant ESAD-UK 18 71755784 71755784 single base substitution T C intron_variant ESAD-UK 18 71755872 71755872 single base substitution G T intron_variant ESAD-UK 18 71756058 71756058 single base substitution T G intron_variant ESAD-UK 18 71756163 71756163 single base substitution T G intron_variant ESAD-UK 18 71756399 71756399 single base substitution C T intron_variant ESAD-UK 18 71756499 71756501 deletion of <=200bp CTA - intron_variant ESAD-UK 18 71756749 71756749 single base substitution G C intron_variant ESAD-UK 18 71757025 71757025 single base substitution T G intron_variant ESAD-UK 18 71757460 71757460 single base substitution T G intron_variant ESAD-UK 18 71758788 71758788 single base substitution C A intron_variant ESAD-UK 18 71760545 71760545 single base substitution G T intron_variant ESAD-UK 18 71760780 71760780 single base substitution A G intron_variant ESAD-UK 18 71762585 71762585 single base substitution T G intron_variant ESAD-UK 18 71763603 71763603 single base substitution C T intron_variant ESAD-UK 18 71763718 71763718 single base substitution A C intron_variant ESAD-UK 18 71765249 71765249 single base substitution G A exon_variant ESAD-UK 18 71765249 71765249 single base substitution G A intron_variant ESAD-UK 18 71765249 71765249 single base substitution G A upstream_gene_variant ESAD-UK 18 71765271 71765271 single base substitution T C exon_variant ESAD-UK 18 71765271 71765271 single base substitution T C intron_variant ESAD-UK 18 71765271 71765271 single base substitution T C upstream_gene_variant ESAD-UK 18 71767481 71767481 single base substitution A C intron_variant ESAD-UK 18 71767481 71767481 single base substitution A C upstream_gene_variant ESAD-UK 18 71768062 71768062 single base substitution G A intron_variant ESAD-UK 18 71768062 71768062 single base substitution G A upstream_gene_variant ESAD-UK 18 71768102 71768102 single base substitution G C intron_variant ESAD-UK 18 71768102 71768102 single base substitution G C upstream_gene_variant ESAD-UK 18 71768705 71768705 single base substitution C G intron_variant ESAD-UK 18 71768705 71768705 single base substitution C G upstream_gene_variant ESAD-UK 18 71773625 71773625 single base substitution T C intron_variant ESAD-UK 18 71774888 71774888 single base substitution T C intron_variant ESAD-UK 18 71775529 71775529 single base substitution T A intron_variant ESAD-UK 18 71775873 71775873 single base substitution T G intron_variant ESAD-UK 18 71778017 71778017 single base substitution T G intron_variant ESAD-UK 18 71779036 71779036 single base substitution A C intron_variant ESAD-UK 18 71779884 71779884 single base substitution A C intron_variant ESAD-UK 18 71780699 71780699 single base substitution A G intron_variant ESAD-UK 18 71782868 71782868 single base substitution T C intron_variant ESAD-UK 18 71783326 71783326 insertion of <=200bp - A intron_variant ESAD-UK 18 71785649 71785649 insertion of <=200bp - AT downstream_gene_variant ESAD-UK 18 71785649 71785649 insertion of <=200bp - AT intron_variant ESAD-UK 18 71785665 71785665 single base substitution G A downstream_gene_variant ESAD-UK 18 71785665 71785665 single base substitution G A intron_variant ESAD-UK 18 71785670 71785670 single base substitution T C downstream_gene_variant ESAD-UK 18 71785670 71785670 single base substitution T C intron_variant ESAD-UK 18 71785799 71785799 single base substitution A C downstream_gene_variant ESAD-UK 18 71785799 71785799 single base substitution A C intron_variant ESAD-UK 18 71786826 71786826 single base substitution A G downstream_gene_variant ESAD-UK 18 71786826 71786826 single base substitution A G intron_variant ESAD-UK 18 71787608 71787608 single base substitution C A downstream_gene_variant ESAD-UK 18 71787608 71787608 single base substitution C A intron_variant ESAD-UK 18 71787920 71787920 single base substitution A C downstream_gene_variant ESAD-UK 18 71787920 71787920 single base substitution A C intron_variant ESAD-UK 18 71788092 71788092 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 71788092 71788092 deletion of <=200bp A - intron_variant ESAD-UK 18 71790623 71790623 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 71790623 71790623 single base substitution C T missense_variant R112H 335G>A ESAD-UK 18 71790623 71790623 single base substitution C T missense_variant R297H 890G>A ESAD-UK 18 71790623 71790623 single base substitution C T missense_variant R373H 1118G>A ESAD-UK 18 71790623 71790623 single base substitution C T missense_variant R41H 122G>A ESAD-UK 18 71791556 71791556 single base substitution G A intron_variant ESAD-UK 18 71791556 71791556 single base substitution G A upstream_gene_variant ESAD-UK 18 71791706 71791706 single base substitution C A intron_variant ESAD-UK 18 71791706 71791706 single base substitution C A upstream_gene_variant ESAD-UK 18 71793120 71793120 single base substitution G T downstream_gene_variant ESAD-UK 18 71793120 71793120 single base substitution G T intron_variant ESAD-UK 18 71793120 71793120 single base substitution G T upstream_gene_variant ESAD-UK 18 71793507 71793507 single base substitution G A downstream_gene_variant ESAD-UK 18 71793507 71793507 single base substitution G A intron_variant ESAD-UK 18 71793507 71793507 single base substitution G A upstream_gene_variant ESAD-UK 18 71794160 71794160 single base substitution G A downstream_gene_variant ESAD-UK 18 71794160 71794160 single base substitution G A intron_variant ESAD-UK 18 71794160 71794160 single base substitution G A upstream_gene_variant ESAD-UK 18 71794452 71794452 deletion of <=200bp G - downstream_gene_variant ESAD-UK 18 71794452 71794452 deletion of <=200bp G - intron_variant ESAD-UK 18 71794452 71794452 deletion of <=200bp G - upstream_gene_variant ESAD-UK 18 71798441 71798441 single base substitution T G intron_variant ESAD-UK 18 71798441 71798441 single base substitution T G upstream_gene_variant ESAD-UK 18 71799102 71799102 single base substitution G A intron_variant ESAD-UK 18 71799102 71799102 single base substitution G A upstream_gene_variant ESAD-UK 18 71801112 71801112 single base substitution A C intron_variant ESAD-UK 18 71801112 71801112 single base substitution A C upstream_gene_variant ESAD-UK 18 71802313 71802313 single base substitution C T intron_variant ESAD-UK 18 71804632 71804632 insertion of <=200bp - A intron_variant ESAD-UK 18 71804632 71804632 insertion of <=200bp - A upstream_gene_variant ESAD-UK 18 71805343 71805343 single base substitution G A intron_variant ESAD-UK 18 71805343 71805343 single base substitution G A upstream_gene_variant ESAD-UK 18 71805496 71805496 single base substitution C T intron_variant ESAD-UK 18 71805496 71805496 single base substitution C T upstream_gene_variant ESAD-UK 18 71806715 71806715 single base substitution T A intron_variant ESAD-UK 18 71806715 71806715 single base substitution T A upstream_gene_variant ESAD-UK 18 71807394 71807394 single base substitution G T intron_variant ESAD-UK 18 71807394 71807394 single base substitution G T upstream_gene_variant ESAD-UK 18 71808122 71808122 single base substitution A T intron_variant ESAD-UK 18 71808626 71808626 single base substitution G A intron_variant ESAD-UK 18 71809032 71809032 single base substitution G A intron_variant ESAD-UK 18 71810336 71810336 single base substitution A G intron_variant ESAD-UK 18 71819074 71819074 single base substitution A T upstream_gene_variant ESAD-UK 18 71819348 71819348 single base substitution G C upstream_gene_variant ESAD-UK 18 71819374 71819374 single base substitution G A upstream_gene_variant ESCA-CN 18 71798004 71798004 single base substitution C A 3_prime_UTR_variant ESCA-CN 18 71798004 71798004 single base substitution C A intron_variant ESCA-CN 18 71798004 71798004 single base substitution C A upstream_gene_variant ESCA-CN 18 71816158 71816158 single base substitution C T upstream_gene_variant GBM-US 18 71791770 71791770 single base substitution G C 3_prime_UTR_variant GBM-US 18 71791770 71791770 single base substitution G C missense_variant H241D 721C>G GBM-US 18 71791770 71791770 single base substitution G C missense_variant H317D 949C>G GBM-US 18 71791770 71791770 single base substitution G C missense_variant H56D 166C>G GBM-US 18 71791770 71791770 single base substitution G C upstream_gene_variant KIRC-US 18 71790669 71790669 single base substitution C A 3_prime_UTR_variant KIRC-US 18 71790669 71790669 single base substitution C A missense_variant V26F 76G>T KIRC-US 18 71790669 71790669 single base substitution C A missense_variant V282F 844G>T KIRC-US 18 71790669 71790669 single base substitution C A missense_variant V358F 1072G>T KIRC-US 18 71790669 71790669 single base substitution C A missense_variant V97F 289G>T KIRP-US 18 71816322 71816322 single base substitution C G upstream_gene_variant LAML-KR 18 71816278 71816278 single base substitution G A upstream_gene_variant LICA-FR 18 71774655 71774655 single base substitution T C intron_variant LICA-FR 18 71780978 71780978 single base substitution T C intron_variant LICA-FR 18 71786118 71786118 single base substitution A T downstream_gene_variant LICA-FR 18 71786118 71786118 single base substitution A T intron_variant LICA-FR 18 71816218 71816218 single base substitution G A upstream_gene_variant LICA-FR 18 71817946 71817946 single base substitution C A upstream_gene_variant LIHC-US 18 71749184 71749184 single base substitution T A 3_prime_UTR_variant LIHC-US 18 71749184 71749184 single base substitution T A exon_variant LIHC-US 18 71749184 71749184 single base substitution T A missense_variant D338V 1013A>T LIHC-US 18 71749184 71749184 single base substitution T A missense_variant D414V 1241A>T LIHC-US 18 71749184 71749184 single base substitution T A missense_variant D82V 245A>T LIHC-US 18 71749184 71749184 single base substitution T A upstream_gene_variant LINC-JP 18 71745569 71745569 single base substitution C A intron_variant LINC-JP 18 71745599 71745599 single base substitution G T intron_variant LINC-JP 18 71773388 71773388 single base substitution A T intron_variant LINC-JP 18 71777448 71777448 single base substitution G A intron_variant LINC-JP 18 71777450 71777450 single base substitution T A intron_variant LINC-JP 18 71779338 71779338 single base substitution C A intron_variant LINC-JP 18 71791823 71791823 single base substitution G A downstream_gene_variant LINC-JP 18 71791823 71791823 single base substitution G A intron_variant LINC-JP 18 71791823 71791823 single base substitution G A upstream_gene_variant LINC-JP 18 71796931 71796931 single base substitution A G downstream_gene_variant LINC-JP 18 71796931 71796931 single base substitution A G intron_variant LINC-JP 18 71796931 71796931 single base substitution A G upstream_gene_variant LINC-JP 18 71797913 71797913 single base substitution T C intron_variant LINC-JP 18 71797913 71797913 single base substitution T C upstream_gene_variant LINC-JP 18 71810054 71810054 single base substitution T C intron_variant LINC-JP 18 71812767 71812767 single base substitution A G intron_variant LINC-JP 18 71815123 71815123 insertion of <=200bp - CGCA upstream_gene_variant LINC-JP 18 71815839 71815839 single base substitution G C upstream_gene_variant LIRI-JP 18 71736529 71736529 deletion of <=200bp C - downstream_gene_variant LIRI-JP 18 71738641 71738641 single base substitution C A downstream_gene_variant LIRI-JP 18 71740281 71740281 single base substitution G T downstream_gene_variant LIRI-JP 18 71742888 71742888 single base substitution T A intron_variant LIRI-JP 18 71744054 71744054 single base substitution A G intron_variant LIRI-JP 18 71749022 71749022 single base substitution C T intron_variant LIRI-JP 18 71749022 71749022 single base substitution C T upstream_gene_variant LIRI-JP 18 71749628 71749628 single base substitution A T intron_variant LIRI-JP 18 71749628 71749628 single base substitution A T upstream_gene_variant LIRI-JP 18 71750727 71750727 single base substitution C T intron_variant LIRI-JP 18 71750727 71750727 single base substitution C T upstream_gene_variant LIRI-JP 18 71751185 71751185 single base substitution T C intron_variant LIRI-JP 18 71751185 71751185 single base substitution T C upstream_gene_variant LIRI-JP 18 71752166 71752166 single base substitution T C intron_variant LIRI-JP 18 71752166 71752166 single base substitution T C upstream_gene_variant LIRI-JP 18 71752517 71752517 single base substitution G C intron_variant LIRI-JP 18 71752517 71752517 single base substitution G C upstream_gene_variant LIRI-JP 18 71753290 71753290 single base substitution T C intron_variant LIRI-JP 18 71753290 71753290 single base substitution T C upstream_gene_variant LIRI-JP 18 71755586 71755586 single base substitution T C intron_variant LIRI-JP 18 71756736 71756736 single base substitution C A intron_variant LIRI-JP 18 71756748 71756748 single base substitution G T intron_variant LIRI-JP 18 71759078 71759078 single base substitution C T intron_variant LIRI-JP 18 71759455 71759455 single base substitution A G intron_variant LIRI-JP 18 71761352 71761352 single base substitution C T intron_variant LIRI-JP 18 71767773 71767773 single base substitution C A intron_variant LIRI-JP 18 71767773 71767773 single base substitution C A upstream_gene_variant LIRI-JP 18 71769369 71769369 single base substitution G C intron_variant LIRI-JP 18 71769369 71769369 single base substitution G C upstream_gene_variant LIRI-JP 18 71770587 71770587 single base substitution A C intron_variant LIRI-JP 18 71770587 71770587 single base substitution A C upstream_gene_variant LIRI-JP 18 71771839 71771839 single base substitution C A intron_variant LIRI-JP 18 71771839 71771839 single base substitution C A upstream_gene_variant LIRI-JP 18 71773389 71773389 insertion of <=200bp - TGTGTAATT intron_variant LIRI-JP 18 71778154 71778154 single base substitution T C intron_variant LIRI-JP 18 71778185 71778185 single base substitution C T intron_variant LIRI-JP 18 71784104 71784104 single base substitution G T intron_variant LIRI-JP 18 71787479 71787479 single base substitution G T downstream_gene_variant LIRI-JP 18 71787479 71787479 single base substitution G T intron_variant LIRI-JP 18 71795633 71795633 single base substitution T C downstream_gene_variant LIRI-JP 18 71795633 71795633 single base substitution T C intron_variant LIRI-JP 18 71795633 71795633 single base substitution T C upstream_gene_variant LIRI-JP 18 71796158 71796158 single base substitution C A downstream_gene_variant LIRI-JP 18 71796158 71796158 single base substitution C A intron_variant LIRI-JP 18 71796729 71796729 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 18 71796729 71796729 deletion of <=200bp T - downstream_gene_variant LIRI-JP 18 71796729 71796729 deletion of <=200bp T - frameshift_variant K156 LIRI-JP 18 71796729 71796729 deletion of <=200bp T - frameshift_variant K232 LIRI-JP 18 71796729 71796729 deletion of <=200bp T - intron_variant LIRI-JP 18 71796729 71796729 deletion of <=200bp T - upstream_gene_variant LIRI-JP 18 71800964 71800964 single base substitution G A intron_variant LIRI-JP 18 71800964 71800964 single base substitution G A upstream_gene_variant LIRI-JP 18 71802217 71802217 single base substitution T A intron_variant LIRI-JP 18 71802351 71802351 single base substitution G C intron_variant LIRI-JP 18 71803356 71803356 single base substitution C T intron_variant LIRI-JP 18 71803356 71803356 single base substitution C T upstream_gene_variant LIRI-JP 18 71804080 71804080 single base substitution C T intron_variant LIRI-JP 18 71804080 71804080 single base substitution C T upstream_gene_variant LIRI-JP 18 71807971 71807971 single base substitution T C 3_prime_UTR_variant LIRI-JP 18 71807971 71807971 single base substitution T C intron_variant LIRI-JP 18 71807971 71807971 single base substitution T C upstream_gene_variant LIRI-JP 18 71809029 71809029 single base substitution A G intron_variant LIRI-JP 18 71809335 71809335 single base substitution T C intron_variant LIRI-JP 18 71812687 71812687 single base substitution C T intron_variant LIRI-JP 18 71813550 71813550 single base substitution C T intron_variant LIRI-JP 18 71813705 71813705 single base substitution A G intron_variant LIRI-JP 18 71814027 71814027 single base substitution G A intron_variant LIRI-JP 18 71814868 71814868 single base substitution C G 3_prime_UTR_variant LIRI-JP 18 71814868 71814868 single base substitution C G 5_prime_UTR_variant LIRI-JP 18 71814868 71814868 single base substitution C G exon_variant LIRI-JP 18 71814868 71814868 single base substitution C G intron_variant LIRI-JP 18 71814868 71814868 single base substitution C G upstream_gene_variant LIRI-JP 18 71816151 71816151 single base substitution G A upstream_gene_variant LIRI-JP 18 71817044 71817044 insertion of <=200bp - ATAATAT upstream_gene_variant LIRI-JP 18 71817464 71817464 single base substitution A G upstream_gene_variant LIRI-JP 18 71818290 71818290 single base substitution G A upstream_gene_variant LIRI-JP 18 71818472 71818472 single base substitution G A upstream_gene_variant LIRI-JP 18 71818608 71818608 single base substitution C G upstream_gene_variant LIRI-JP 18 71819282 71819282 single base substitution T A upstream_gene_variant LUSC-KR 18 71736561 71736561 single base substitution C T downstream_gene_variant LUSC-KR 18 71738250 71738250 single base substitution G A downstream_gene_variant LUSC-KR 18 71742892 71742892 single base substitution A T intron_variant LUSC-KR 18 71743963 71743963 single base substitution A G intron_variant LUSC-KR 18 71744776 71744776 single base substitution C A intron_variant LUSC-KR 18 71744802 71744802 single base substitution A C intron_variant LUSC-KR 18 71745362 71745362 single base substitution C A intron_variant LUSC-KR 18 71749591 71749591 single base substitution A C intron_variant LUSC-KR 18 71749591 71749591 single base substitution A C upstream_gene_variant LUSC-KR 18 71749893 71749893 single base substitution C G intron_variant LUSC-KR 18 71749893 71749893 single base substitution C G upstream_gene_variant LUSC-KR 18 71750566 71750566 single base substitution C T intron_variant LUSC-KR 18 71750566 71750566 single base substitution C T upstream_gene_variant LUSC-KR 18 71753896 71753896 single base substitution C A intron_variant LUSC-KR 18 71753896 71753896 single base substitution C A upstream_gene_variant LUSC-KR 18 71756894 71756894 single base substitution T A intron_variant LUSC-KR 18 71759169 71759169 single base substitution G C intron_variant LUSC-KR 18 71763540 71763540 single base substitution C A intron_variant LUSC-KR 18 71763852 71763852 single base substitution A T intron_variant LUSC-KR 18 71764854 71764854 single base substitution G A exon_variant LUSC-KR 18 71764854 71764854 single base substitution G A intron_variant LUSC-KR 18 71764854 71764854 single base substitution G A upstream_gene_variant LUSC-KR 18 71772959 71772959 single base substitution G A intron_variant LUSC-KR 18 71774136 71774136 single base substitution T C intron_variant LUSC-KR 18 71774862 71774862 single base substitution T C intron_variant LUSC-KR 18 71776007 71776007 single base substitution A C intron_variant LUSC-KR 18 71776527 71776527 single base substitution C A intron_variant LUSC-KR 18 71776528 71776528 single base substitution C A intron_variant LUSC-KR 18 71778146 71778146 single base substitution G A intron_variant LUSC-KR 18 71778147 71778147 single base substitution C T intron_variant LUSC-KR 18 71778514 71778514 single base substitution G A intron_variant LUSC-KR 18 71778872 71778872 single base substitution G A intron_variant LUSC-KR 18 71779809 71779809 single base substitution C G intron_variant LUSC-KR 18 71780108 71780108 single base substitution C T intron_variant LUSC-KR 18 71782899 71782899 single base substitution C A intron_variant LUSC-KR 18 71785783 71785783 single base substitution G T downstream_gene_variant LUSC-KR 18 71785783 71785783 single base substitution G T intron_variant LUSC-KR 18 71786772 71786772 single base substitution G A downstream_gene_variant LUSC-KR 18 71786772 71786772 single base substitution G A intron_variant LUSC-KR 18 71794979 71794979 single base substitution C A downstream_gene_variant LUSC-KR 18 71794979 71794979 single base substitution C A intron_variant LUSC-KR 18 71794979 71794979 single base substitution C A upstream_gene_variant LUSC-KR 18 71795779 71795779 single base substitution G A downstream_gene_variant LUSC-KR 18 71795779 71795779 single base substitution G A intron_variant LUSC-KR 18 71800417 71800417 single base substitution C A intron_variant LUSC-KR 18 71800417 71800417 single base substitution C A upstream_gene_variant LUSC-KR 18 71801714 71801714 single base substitution C A intron_variant LUSC-KR 18 71805228 71805228 single base substitution G T intron_variant LUSC-KR 18 71805228 71805228 single base substitution G T upstream_gene_variant LUSC-KR 18 71805468 71805468 single base substitution C T intron_variant LUSC-KR 18 71805468 71805468 single base substitution C T upstream_gene_variant LUSC-KR 18 71805647 71805647 single base substitution T C intron_variant LUSC-KR 18 71805647 71805647 single base substitution T C upstream_gene_variant LUSC-KR 18 71806974 71806974 single base substitution T A intron_variant LUSC-KR 18 71806974 71806974 single base substitution T A upstream_gene_variant LUSC-KR 18 71807917 71807917 single base substitution A C intron_variant LUSC-KR 18 71807917 71807917 single base substitution A C upstream_gene_variant LUSC-KR 18 71808646 71808646 single base substitution T C intron_variant LUSC-KR 18 71811331 71811331 single base substitution A G intron_variant LUSC-KR 18 71811360 71811360 single base substitution C A intron_variant LUSC-KR 18 71816278 71816278 single base substitution G A upstream_gene_variant LUSC-US 18 71740710 71740710 single base substitution C A 3_prime_UTR_variant LUSC-US 18 71740710 71740710 single base substitution C A downstream_gene_variant LUSC-US 18 71740710 71740710 single base substitution C A exon_variant LUSC-US 18 71740710 71740710 single base substitution C A missense_variant G431W 1291G>T LUSC-US 18 71740710 71740710 single base substitution C A missense_variant G507W 1519G>T LUSC-US 18 71740764 71740764 single base substitution G T 3_prime_UTR_variant LUSC-US 18 71740764 71740764 single base substitution G T exon_variant LUSC-US 18 71740764 71740764 single base substitution G T missense_variant L413I 1237C>A LUSC-US 18 71740764 71740764 single base substitution G T missense_variant L489I 1465C>A LUSC-US 18 71740911 71740911 single base substitution A C 3_prime_UTR_variant LUSC-US 18 71740911 71740911 single base substitution A C exon_variant LUSC-US 18 71740911 71740911 single base substitution A C intron_variant LUSC-US 18 71740911 71740911 single base substitution A C missense_variant C364G 1090T>G LUSC-US 18 71740911 71740911 single base substitution A C missense_variant C440G 1318T>G LUSC-US 18 71793322 71793322 single base substitution G C 3_prime_UTR_variant LUSC-US 18 71793322 71793322 single base substitution G C downstream_gene_variant LUSC-US 18 71793322 71793322 single base substitution G C intron_variant LUSC-US 18 71793322 71793322 single base substitution G C missense_variant S191C 572C>G LUSC-US 18 71793322 71793322 single base substitution G C missense_variant S267C 800C>G LUSC-US 18 71793322 71793322 single base substitution G C missense_variant S6C 17C>G LUSC-US 18 71793322 71793322 single base substitution G C upstream_gene_variant LUSC-US 18 71796839 71796839 single base substitution A G 3_prime_UTR_variant LUSC-US 18 71796839 71796839 single base substitution A G downstream_gene_variant LUSC-US 18 71796839 71796839 single base substitution A G intron_variant LUSC-US 18 71796839 71796839 single base substitution A G synonymous_variant L120L 358T>C LUSC-US 18 71796839 71796839 single base substitution A G synonymous_variant L196L 586T>C LUSC-US 18 71796839 71796839 single base substitution A G upstream_gene_variant LUSC-US 18 71797764 71797764 single base substitution C A 3_prime_UTR_variant LUSC-US 18 71797764 71797764 single base substitution C A downstream_gene_variant LUSC-US 18 71797764 71797764 single base substitution C A intron_variant LUSC-US 18 71797764 71797764 single base substitution C A missense_variant W117C 351G>T LUSC-US 18 71797764 71797764 single base substitution C A missense_variant W154C 462G>T LUSC-US 18 71797764 71797764 single base substitution C A missense_variant W78C 234G>T LUSC-US 18 71797764 71797764 single base substitution C A upstream_gene_variant LUSC-US 18 71816207 71816207 single base substitution G C upstream_gene_variant LUSC-US 18 71816224 71816224 single base substitution A T upstream_gene_variant MALY-DE 18 71739681 71739681 insertion of <=200bp - T downstream_gene_variant MALY-DE 18 71741641 71741641 single base substitution A T intron_variant MALY-DE 18 71742374 71742374 single base substitution T C intron_variant MALY-DE 18 71742533 71742533 single base substitution C A intron_variant MALY-DE 18 71748541 71748541 single base substitution C G intron_variant MALY-DE 18 71748541 71748541 single base substitution C G upstream_gene_variant MALY-DE 18 71752347 71752347 single base substitution G T intron_variant MALY-DE 18 71752347 71752347 single base substitution G T upstream_gene_variant MALY-DE 18 71754535 71754535 single base substitution T C intron_variant MALY-DE 18 71772845 71772845 insertion of <=200bp - T intron_variant MALY-DE 18 71775292 71775293 deletion of <=200bp CA - intron_variant MALY-DE 18 71781444 71781444 single base substitution C T intron_variant MALY-DE 18 71782471 71782471 single base substitution T A intron_variant MALY-DE 18 71785639 71785652 deletion of <=200bp ATATATACACATAT - downstream_gene_variant MALY-DE 18 71785639 71785652 deletion of <=200bp ATATATACACATAT - intron_variant MALY-DE 18 71785721 71785722 deletion of <=200bp AG - downstream_gene_variant MALY-DE 18 71785721 71785722 deletion of <=200bp AG - intron_variant MALY-DE 18 71786565 71786565 single base substitution C T downstream_gene_variant MALY-DE 18 71786565 71786565 single base substitution C T intron_variant MALY-DE 18 71786762 71786762 single base substitution G A downstream_gene_variant MALY-DE 18 71786762 71786762 single base substitution G A intron_variant MALY-DE 18 71787575 71787575 single base substitution C T downstream_gene_variant MALY-DE 18 71787575 71787575 single base substitution C T intron_variant MALY-DE 18 71789061 71789061 single base substitution A G downstream_gene_variant MALY-DE 18 71789061 71789061 single base substitution A G intron_variant MALY-DE 18 71793194 71793194 single base substitution G A downstream_gene_variant MALY-DE 18 71793194 71793194 single base substitution G A intron_variant MALY-DE 18 71793194 71793194 single base substitution G A upstream_gene_variant MALY-DE 18 71797224 71797224 single base substitution G A downstream_gene_variant MALY-DE 18 71797224 71797224 single base substitution G A intron_variant MALY-DE 18 71797224 71797224 single base substitution G A upstream_gene_variant MALY-DE 18 71800065 71800065 single base substitution A C intron_variant MALY-DE 18 71800065 71800065 single base substitution A C upstream_gene_variant MALY-DE 18 71804668 71804668 single base substitution A C intron_variant MALY-DE 18 71804668 71804668 single base substitution A C upstream_gene_variant MALY-DE 18 71807171 71807171 single base substitution A C intron_variant MALY-DE 18 71807171 71807171 single base substitution A C upstream_gene_variant MALY-DE 18 71807433 71807433 single base substitution T G intron_variant MALY-DE 18 71807433 71807433 single base substitution T G splice_region_variant MALY-DE 18 71807433 71807433 single base substitution T G upstream_gene_variant MALY-DE 18 71808129 71808129 single base substitution T A intron_variant MALY-DE 18 71810362 71810362 single base substitution G A intron_variant MALY-DE 18 71811448 71811448 single base substitution G A intron_variant MALY-DE 18 71811464 71811464 single base substitution G A intron_variant MALY-DE 18 71812440 71812440 single base substitution A T intron_variant MALY-DE 18 71814018 71814018 insertion of <=200bp - A intron_variant MELA-AU 18 71735635 71735635 single base substitution G A downstream_gene_variant MELA-AU 18 71735685 71735685 single base substitution C T downstream_gene_variant MELA-AU 18 71735752 71735752 single base substitution C T downstream_gene_variant MELA-AU 18 71735828 71735828 single base substitution G A downstream_gene_variant MELA-AU 18 71735985 71735985 single base substitution C T downstream_gene_variant MELA-AU 18 71736232 71736232 single base substitution T C downstream_gene_variant MELA-AU 18 71736448 71736448 single base substitution G A downstream_gene_variant MELA-AU 18 71736536 71736536 single base substitution G A downstream_gene_variant MELA-AU 18 71736637 71736637 single base substitution G A downstream_gene_variant MELA-AU 18 71736658 71736658 single base substitution G A downstream_gene_variant MELA-AU 18 71736734 71736734 single base substitution G A downstream_gene_variant MELA-AU 18 71736805 71736805 single base substitution C T downstream_gene_variant MELA-AU 18 71736809 71736809 single base substitution C T downstream_gene_variant MELA-AU 18 71736912 71736912 single base substitution G A downstream_gene_variant MELA-AU 18 71736944 71736945 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 71736945 71736945 single base substitution G A downstream_gene_variant MELA-AU 18 71736999 71736999 single base substitution C T downstream_gene_variant MELA-AU 18 71737064 71737064 single base substitution C T downstream_gene_variant MELA-AU 18 71737498 71737498 single base substitution C T downstream_gene_variant MELA-AU 18 71737536 71737536 single base substitution G A downstream_gene_variant MELA-AU 18 71737688 71737688 single base substitution T A downstream_gene_variant MELA-AU 18 71737966 71737966 single base substitution G A downstream_gene_variant MELA-AU 18 71738233 71738233 single base substitution C T downstream_gene_variant MELA-AU 18 71738440 71738440 single base substitution C T downstream_gene_variant MELA-AU 18 71738510 71738510 single base substitution G A downstream_gene_variant MELA-AU 18 71738535 71738535 single base substitution G A downstream_gene_variant MELA-AU 18 71738563 71738563 single base substitution G A downstream_gene_variant MELA-AU 18 71738665 71738665 single base substitution G A downstream_gene_variant MELA-AU 18 71738827 71738827 single base substitution T G downstream_gene_variant MELA-AU 18 71738918 71738918 single base substitution C T downstream_gene_variant MELA-AU 18 71738969 71738969 single base substitution G A downstream_gene_variant MELA-AU 18 71739010 71739010 single base substitution C T downstream_gene_variant MELA-AU 18 71739021 71739021 single base substitution C T downstream_gene_variant MELA-AU 18 71739149 71739149 single base substitution C T downstream_gene_variant MELA-AU 18 71739182 71739182 single base substitution G A downstream_gene_variant MELA-AU 18 71739203 71739203 single base substitution G A downstream_gene_variant MELA-AU 18 71739283 71739283 single base substitution G A downstream_gene_variant MELA-AU 18 71739449 71739449 single base substitution C T downstream_gene_variant MELA-AU 18 71739451 71739451 single base substitution C T downstream_gene_variant MELA-AU 18 71739601 71739601 single base substitution C T downstream_gene_variant MELA-AU 18 71739647 71739647 single base substitution C T downstream_gene_variant MELA-AU 18 71739666 71739666 single base substitution C T downstream_gene_variant MELA-AU 18 71739840 71739840 single base substitution G A downstream_gene_variant MELA-AU 18 71739841 71739841 single base substitution G A downstream_gene_variant MELA-AU 18 71739867 71739867 single base substitution G A downstream_gene_variant MELA-AU 18 71739887 71739887 single base substitution G A downstream_gene_variant MELA-AU 18 71739919 71739919 single base substitution G A downstream_gene_variant MELA-AU 18 71740048 71740048 single base substitution A T downstream_gene_variant MELA-AU 18 71740182 71740182 single base substitution C T downstream_gene_variant MELA-AU 18 71740480 71740480 single base substitution T A downstream_gene_variant MELA-AU 18 71740773 71740773 single base substitution C T 3_prime_UTR_variant MELA-AU 18 71740773 71740773 single base substitution C T exon_variant MELA-AU 18 71740773 71740773 single base substitution C T missense_variant E410K 1228G>A MELA-AU 18 71740773 71740773 single base substitution C T missense_variant E486K 1456G>A MELA-AU 18 71741047 71741047 single base substitution C T intron_variant MELA-AU 18 71741089 71741089 single base substitution C T intron_variant MELA-AU 18 71741474 71741474 single base substitution C T intron_variant MELA-AU 18 71741515 71741515 single base substitution G A intron_variant MELA-AU 18 71742224 71742224 single base substitution C T intron_variant MELA-AU 18 71742286 71742286 single base substitution A G intron_variant MELA-AU 18 71742437 71742437 single base substitution C T intron_variant MELA-AU 18 71742465 71742465 single base substitution A G intron_variant MELA-AU 18 71742634 71742634 single base substitution G A intron_variant MELA-AU 18 71742645 71742645 single base substitution C T intron_variant MELA-AU 18 71742662 71742662 single base substitution C T intron_variant MELA-AU 18 71742737 71742737 single base substitution C T intron_variant MELA-AU 18 71743238 71743238 single base substitution C T intron_variant MELA-AU 18 71743414 71743414 single base substitution C T intron_variant MELA-AU 18 71743415 71743415 single base substitution C A intron_variant MELA-AU 18 71743633 71743633 single base substitution G A exon_variant MELA-AU 18 71743633 71743633 single base substitution G A intron_variant MELA-AU 18 71743655 71743655 single base substitution C A exon_variant MELA-AU 18 71743655 71743655 single base substitution C A intron_variant MELA-AU 18 71743914 71743914 single base substitution G A intron_variant MELA-AU 18 71743995 71743995 single base substitution C T intron_variant MELA-AU 18 71744091 71744091 single base substitution C T intron_variant MELA-AU 18 71744356 71744356 single base substitution C A intron_variant MELA-AU 18 71744575 71744575 single base substitution G A intron_variant MELA-AU 18 71744927 71744927 single base substitution G A intron_variant MELA-AU 18 71744946 71744946 single base substitution C T intron_variant MELA-AU 18 71745163 71745163 single base substitution A G intron_variant MELA-AU 18 71745179 71745179 single base substitution C T intron_variant MELA-AU 18 71745395 71745395 single base substitution C T intron_variant MELA-AU 18 71745436 71745436 single base substitution C T intron_variant MELA-AU 18 71745461 71745461 single base substitution C T intron_variant MELA-AU 18 71745491 71745491 single base substitution G A intron_variant MELA-AU 18 71745664 71745664 single base substitution G A intron_variant MELA-AU 18 71745673 71745673 single base substitution C A intron_variant MELA-AU 18 71745718 71745718 single base substitution C T intron_variant MELA-AU 18 71745838 71745838 single base substitution G A exon_variant MELA-AU 18 71745838 71745838 single base substitution G A intron_variant MELA-AU 18 71745919 71745919 single base substitution C T exon_variant MELA-AU 18 71745919 71745919 single base substitution C T intron_variant MELA-AU 18 71746110 71746110 single base substitution C T intron_variant MELA-AU 18 71746110 71746110 single base substitution C T upstream_gene_variant MELA-AU 18 71746124 71746124 single base substitution C T intron_variant MELA-AU 18 71746124 71746124 single base substitution C T upstream_gene_variant MELA-AU 18 71746664 71746664 single base substitution G A intron_variant MELA-AU 18 71746664 71746664 single base substitution G A upstream_gene_variant MELA-AU 18 71746674 71746674 single base substitution G A intron_variant MELA-AU 18 71746674 71746674 single base substitution G A upstream_gene_variant MELA-AU 18 71746843 71746843 single base substitution A T intron_variant MELA-AU 18 71746843 71746843 single base substitution A T upstream_gene_variant MELA-AU 18 71746878 71746878 single base substitution G A intron_variant MELA-AU 18 71746878 71746878 single base substitution G A upstream_gene_variant MELA-AU 18 71747044 71747044 single base substitution C T intron_variant MELA-AU 18 71747044 71747044 single base substitution C T upstream_gene_variant MELA-AU 18 71747065 71747065 single base substitution G A intron_variant MELA-AU 18 71747065 71747065 single base substitution G A upstream_gene_variant MELA-AU 18 71747085 71747085 single base substitution C T intron_variant MELA-AU 18 71747085 71747085 single base substitution C T upstream_gene_variant MELA-AU 18 71747166 71747166 single base substitution T G intron_variant MELA-AU 18 71747166 71747166 single base substitution T G upstream_gene_variant MELA-AU 18 71747181 71747181 single base substitution C T intron_variant MELA-AU 18 71747181 71747181 single base substitution C T upstream_gene_variant MELA-AU 18 71747192 71747192 single base substitution G A intron_variant MELA-AU 18 71747192 71747192 single base substitution G A upstream_gene_variant MELA-AU 18 71747417 71747417 single base substitution C T intron_variant MELA-AU 18 71747417 71747417 single base substitution C T upstream_gene_variant MELA-AU 18 71747517 71747517 single base substitution G A intron_variant MELA-AU 18 71747517 71747517 single base substitution G A upstream_gene_variant MELA-AU 18 71747913 71747913 single base substitution G T intron_variant MELA-AU 18 71747913 71747913 single base substitution G T upstream_gene_variant MELA-AU 18 71748018 71748018 single base substitution C T intron_variant MELA-AU 18 71748018 71748018 single base substitution C T upstream_gene_variant MELA-AU 18 71748120 71748120 single base substitution A G intron_variant MELA-AU 18 71748120 71748120 single base substitution A G upstream_gene_variant MELA-AU 18 71748283 71748283 single base substitution G A intron_variant MELA-AU 18 71748283 71748283 single base substitution G A upstream_gene_variant MELA-AU 18 71748387 71748387 single base substitution C T intron_variant MELA-AU 18 71748387 71748387 single base substitution C T upstream_gene_variant MELA-AU 18 71748574 71748574 single base substitution G A intron_variant MELA-AU 18 71748574 71748574 single base substitution G A upstream_gene_variant MELA-AU 18 71748594 71748594 single base substitution G A intron_variant MELA-AU 18 71748594 71748594 single base substitution G A upstream_gene_variant MELA-AU 18 71748702 71748702 single base substitution C T intron_variant MELA-AU 18 71748702 71748702 single base substitution C T upstream_gene_variant MELA-AU 18 71748717 71748717 single base substitution C T intron_variant MELA-AU 18 71748717 71748717 single base substitution C T upstream_gene_variant MELA-AU 18 71748958 71748958 single base substitution T C intron_variant MELA-AU 18 71748958 71748958 single base substitution T C upstream_gene_variant MELA-AU 18 71749501 71749502 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 71749501 71749502 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 71749513 71749513 single base substitution G A intron_variant MELA-AU 18 71749513 71749513 single base substitution G A upstream_gene_variant MELA-AU 18 71750758 71750758 single base substitution G A intron_variant MELA-AU 18 71750758 71750758 single base substitution G A upstream_gene_variant MELA-AU 18 71751024 71751024 single base substitution C T intron_variant MELA-AU 18 71751024 71751024 single base substitution C T upstream_gene_variant MELA-AU 18 71751505 71751505 single base substitution C T intron_variant MELA-AU 18 71751505 71751505 single base substitution C T upstream_gene_variant MELA-AU 18 71751600 71751600 single base substitution G A intron_variant MELA-AU 18 71751600 71751600 single base substitution G A upstream_gene_variant MELA-AU 18 71751711 71751711 single base substitution G A intron_variant MELA-AU 18 71751711 71751711 single base substitution G A upstream_gene_variant MELA-AU 18 71751754 71751754 single base substitution T A intron_variant MELA-AU 18 71751754 71751754 single base substitution T A upstream_gene_variant MELA-AU 18 71752620 71752621 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 71752620 71752621 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 71752747 71752747 single base substitution G A intron_variant MELA-AU 18 71752747 71752747 single base substitution G A upstream_gene_variant MELA-AU 18 71752782 71752782 single base substitution C T intron_variant MELA-AU 18 71752782 71752782 single base substitution C T upstream_gene_variant MELA-AU 18 71753047 71753047 single base substitution G A intron_variant MELA-AU 18 71753047 71753047 single base substitution G A upstream_gene_variant MELA-AU 18 71753065 71753065 single base substitution C T intron_variant MELA-AU 18 71753065 71753065 single base substitution C T upstream_gene_variant MELA-AU 18 71753134 71753134 single base substitution G A intron_variant MELA-AU 18 71753134 71753134 single base substitution G A upstream_gene_variant MELA-AU 18 71753161 71753161 single base substitution G A intron_variant MELA-AU 18 71753161 71753161 single base substitution G A upstream_gene_variant MELA-AU 18 71753428 71753428 single base substitution G A intron_variant MELA-AU 18 71753428 71753428 single base substitution G A upstream_gene_variant MELA-AU 18 71753477 71753477 single base substitution G A intron_variant MELA-AU 18 71753477 71753477 single base substitution G A upstream_gene_variant MELA-AU 18 71753490 71753490 single base substitution A T intron_variant MELA-AU 18 71753490 71753490 single base substitution A T upstream_gene_variant MELA-AU 18 71753583 71753583 single base substitution C T intron_variant MELA-AU 18 71753583 71753583 single base substitution C T upstream_gene_variant MELA-AU 18 71753739 71753739 single base substitution C T intron_variant MELA-AU 18 71753739 71753739 single base substitution C T upstream_gene_variant MELA-AU 18 71753780 71753780 single base substitution G A intron_variant MELA-AU 18 71753780 71753780 single base substitution G A upstream_gene_variant MELA-AU 18 71753866 71753866 single base substitution C T intron_variant MELA-AU 18 71753866 71753866 single base substitution C T upstream_gene_variant MELA-AU 18 71754073 71754073 single base substitution A G intron_variant MELA-AU 18 71754073 71754073 single base substitution A G upstream_gene_variant MELA-AU 18 71754086 71754086 single base substitution G A intron_variant MELA-AU 18 71754086 71754086 single base substitution G A upstream_gene_variant MELA-AU 18 71754296 71754296 single base substitution T A intron_variant MELA-AU 18 71754296 71754296 single base substitution T A upstream_gene_variant MELA-AU 18 71754548 71754548 single base substitution T C intron_variant MELA-AU 18 71754562 71754562 single base substitution C T intron_variant MELA-AU 18 71754594 71754595 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 18 71754677 71754677 single base substitution C T intron_variant MELA-AU 18 71754723 71754723 single base substitution G A intron_variant MELA-AU 18 71754904 71754904 single base substitution G A intron_variant MELA-AU 18 71754954 71754954 single base substitution G A intron_variant MELA-AU 18 71755220 71755220 single base substitution C T intron_variant MELA-AU 18 71755497 71755497 single base substitution C T intron_variant MELA-AU 18 71755500 71755500 single base substitution G A intron_variant MELA-AU 18 71755525 71755525 single base substitution G A intron_variant MELA-AU 18 71755553 71755553 single base substitution G A intron_variant MELA-AU 18 71755632 71755632 single base substitution T C intron_variant MELA-AU 18 71755865 71755865 single base substitution G A intron_variant MELA-AU 18 71755932 71755932 single base substitution G A intron_variant MELA-AU 18 71755941 71755941 single base substitution G A intron_variant MELA-AU 18 71756005 71756005 single base substitution A C intron_variant MELA-AU 18 71756188 71756188 single base substitution C T intron_variant MELA-AU 18 71756400 71756400 single base substitution G A intron_variant MELA-AU 18 71756637 71756637 single base substitution C T intron_variant MELA-AU 18 71756645 71756645 single base substitution G A intron_variant MELA-AU 18 71756716 71756716 single base substitution G A intron_variant MELA-AU 18 71756826 71756826 single base substitution C T intron_variant MELA-AU 18 71756858 71756858 single base substitution C T intron_variant MELA-AU 18 71757068 71757068 single base substitution G A intron_variant MELA-AU 18 71757094 71757094 single base substitution G A intron_variant MELA-AU 18 71757127 71757127 single base substitution C A intron_variant MELA-AU 18 71757303 71757303 single base substitution G A intron_variant MELA-AU 18 71757379 71757379 single base substitution G A intron_variant MELA-AU 18 71757476 71757476 single base substitution C T intron_variant MELA-AU 18 71757636 71757636 single base substitution C T intron_variant MELA-AU 18 71757652 71757652 single base substitution G A intron_variant MELA-AU 18 71757744 71757744 single base substitution G A intron_variant MELA-AU 18 71757790 71757790 single base substitution C T intron_variant MELA-AU 18 71758205 71758205 single base substitution G A intron_variant MELA-AU 18 71758208 71758208 single base substitution C T intron_variant MELA-AU 18 71758235 71758235 single base substitution C T intron_variant MELA-AU 18 71758368 71758368 single base substitution T A intron_variant MELA-AU 18 71758599 71758599 single base substitution C T intron_variant MELA-AU 18 71758978 71758978 single base substitution A T intron_variant MELA-AU 18 71759127 71759127 single base substitution G A intron_variant MELA-AU 18 71759179 71759179 single base substitution G A intron_variant MELA-AU 18 71759260 71759260 single base substitution C T intron_variant MELA-AU 18 71759524 71759524 single base substitution C T intron_variant MELA-AU 18 71759558 71759558 single base substitution C T intron_variant MELA-AU 18 71759827 71759827 single base substitution G A intron_variant MELA-AU 18 71759939 71759939 single base substitution G A intron_variant MELA-AU 18 71760166 71760166 single base substitution G A intron_variant MELA-AU 18 71760167 71760168 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 71760180 71760180 single base substitution G A intron_variant MELA-AU 18 71760561 71760561 single base substitution G A intron_variant MELA-AU 18 71760767 71760767 single base substitution C T intron_variant MELA-AU 18 71760837 71760837 single base substitution C T intron_variant MELA-AU 18 71761008 71761008 single base substitution C T intron_variant MELA-AU 18 71761272 71761272 single base substitution G A intron_variant MELA-AU 18 71761377 71761377 single base substitution G A intron_variant MELA-AU 18 71761604 71761604 single base substitution C T intron_variant MELA-AU 18 71761870 71761870 single base substitution C T intron_variant MELA-AU 18 71761939 71761939 single base substitution C T intron_variant MELA-AU 18 71762121 71762121 single base substitution C T intron_variant MELA-AU 18 71762286 71762286 single base substitution C T intron_variant MELA-AU 18 71762369 71762369 single base substitution G A intron_variant MELA-AU 18 71762370 71762370 single base substitution G A intron_variant MELA-AU 18 71763085 71763085 single base substitution C T intron_variant MELA-AU 18 71763105 71763105 single base substitution A G intron_variant MELA-AU 18 71763140 71763140 single base substitution C T intron_variant MELA-AU 18 71763248 71763248 single base substitution G A intron_variant MELA-AU 18 71763299 71763299 single base substitution C T intron_variant MELA-AU 18 71763392 71763392 single base substitution G A intron_variant MELA-AU 18 71763506 71763506 single base substitution G A intron_variant MELA-AU 18 71763550 71763550 single base substitution G A intron_variant MELA-AU 18 71763584 71763584 single base substitution C T intron_variant MELA-AU 18 71763673 71763673 single base substitution G T intron_variant MELA-AU 18 71763945 71763945 single base substitution G A intron_variant MELA-AU 18 71764032 71764032 single base substitution G A intron_variant MELA-AU 18 71764158 71764158 single base substitution G A intron_variant MELA-AU 18 71764305 71764306 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 18 71764305 71764306 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 71764389 71764389 single base substitution G A exon_variant MELA-AU 18 71764389 71764389 single base substitution G A intron_variant MELA-AU 18 71764389 71764389 single base substitution G A splice_region_variant MELA-AU 18 71764420 71764420 single base substitution C T exon_variant MELA-AU 18 71764420 71764420 single base substitution C T intron_variant MELA-AU 18 71764526 71764526 single base substitution G A intron_variant MELA-AU 18 71764526 71764526 single base substitution G A upstream_gene_variant MELA-AU 18 71764665 71764665 single base substitution G A intron_variant MELA-AU 18 71764665 71764665 single base substitution G A upstream_gene_variant MELA-AU 18 71764824 71764824 single base substitution A C exon_variant MELA-AU 18 71764824 71764824 single base substitution A C intron_variant MELA-AU 18 71764824 71764824 single base substitution A C upstream_gene_variant MELA-AU 18 71765077 71765077 single base substitution G A exon_variant MELA-AU 18 71765077 71765077 single base substitution G A intron_variant MELA-AU 18 71765077 71765077 single base substitution G A upstream_gene_variant MELA-AU 18 71765087 71765087 single base substitution G A exon_variant MELA-AU 18 71765087 71765087 single base substitution G A intron_variant MELA-AU 18 71765087 71765087 single base substitution G A upstream_gene_variant MELA-AU 18 71765171 71765171 single base substitution G A exon_variant MELA-AU 18 71765171 71765171 single base substitution G A intron_variant MELA-AU 18 71765171 71765171 single base substitution G A upstream_gene_variant MELA-AU 18 71765345 71765345 single base substitution G A exon_variant MELA-AU 18 71765345 71765345 single base substitution G A intron_variant MELA-AU 18 71765345 71765345 single base substitution G A upstream_gene_variant MELA-AU 18 71765408 71765408 single base substitution G A exon_variant MELA-AU 18 71765408 71765408 single base substitution G A intron_variant MELA-AU 18 71765408 71765408 single base substitution G A upstream_gene_variant MELA-AU 18 71765435 71765435 single base substitution G A exon_variant MELA-AU 18 71765435 71765435 single base substitution G A intron_variant MELA-AU 18 71765435 71765435 single base substitution G A upstream_gene_variant MELA-AU 18 71765674 71765674 single base substitution G A exon_variant MELA-AU 18 71765674 71765674 single base substitution G A intron_variant MELA-AU 18 71765674 71765674 single base substitution G A upstream_gene_variant MELA-AU 18 71766270 71766270 single base substitution G A exon_variant MELA-AU 18 71766270 71766270 single base substitution G A intron_variant MELA-AU 18 71766270 71766270 single base substitution G A upstream_gene_variant MELA-AU 18 71766456 71766456 single base substitution G A exon_variant MELA-AU 18 71766456 71766456 single base substitution G A intron_variant MELA-AU 18 71766456 71766456 single base substitution G A upstream_gene_variant MELA-AU 18 71766501 71766501 single base substitution A G exon_variant MELA-AU 18 71766501 71766501 single base substitution A G intron_variant MELA-AU 18 71766501 71766501 single base substitution A G upstream_gene_variant MELA-AU 18 71766581 71766581 single base substitution G A exon_variant MELA-AU 18 71766581 71766581 single base substitution G A intron_variant MELA-AU 18 71766581 71766581 single base substitution G A upstream_gene_variant MELA-AU 18 71766658 71766658 single base substitution G A exon_variant MELA-AU 18 71766658 71766658 single base substitution G A intron_variant MELA-AU 18 71766658 71766658 single base substitution G A upstream_gene_variant MELA-AU 18 71766681 71766682 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 18 71766681 71766682 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 71766681 71766682 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 71766720 71766720 single base substitution C T exon_variant MELA-AU 18 71766720 71766720 single base substitution C T intron_variant MELA-AU 18 71766720 71766720 single base substitution C T upstream_gene_variant MELA-AU 18 71766836 71766836 single base substitution C T exon_variant MELA-AU 18 71766836 71766836 single base substitution C T intron_variant MELA-AU 18 71766836 71766836 single base substitution C T upstream_gene_variant MELA-AU 18 71766865 71766865 single base substitution T G exon_variant MELA-AU 18 71766865 71766865 single base substitution T G intron_variant MELA-AU 18 71766865 71766865 single base substitution T G upstream_gene_variant MELA-AU 18 71767290 71767290 single base substitution G A exon_variant MELA-AU 18 71767290 71767290 single base substitution G A intron_variant MELA-AU 18 71767290 71767290 single base substitution G A upstream_gene_variant MELA-AU 18 71767308 71767308 single base substitution G A intron_variant MELA-AU 18 71767308 71767308 single base substitution G A upstream_gene_variant MELA-AU 18 71767341 71767341 single base substitution G A intron_variant MELA-AU 18 71767341 71767341 single base substitution G A upstream_gene_variant MELA-AU 18 71767419 71767419 single base substitution G A intron_variant MELA-AU 18 71767419 71767419 single base substitution G A upstream_gene_variant MELA-AU 18 71767468 71767468 single base substitution G A intron_variant MELA-AU 18 71767468 71767468 single base substitution G A upstream_gene_variant MELA-AU 18 71767523 71767523 single base substitution G A intron_variant MELA-AU 18 71767523 71767523 single base substitution G A upstream_gene_variant MELA-AU 18 71767568 71767568 single base substitution G C intron_variant MELA-AU 18 71767568 71767568 single base substitution G C upstream_gene_variant MELA-AU 18 71767578 71767578 single base substitution G A intron_variant MELA-AU 18 71767578 71767578 single base substitution G A upstream_gene_variant MELA-AU 18 71767786 71767786 single base substitution G A intron_variant MELA-AU 18 71767786 71767786 single base substitution G A upstream_gene_variant MELA-AU 18 71767949 71767949 single base substitution G A intron_variant MELA-AU 18 71767949 71767949 single base substitution G A upstream_gene_variant MELA-AU 18 71768125 71768125 single base substitution A G intron_variant MELA-AU 18 71768125 71768125 single base substitution A G upstream_gene_variant MELA-AU 18 71768284 71768284 single base substitution C T intron_variant MELA-AU 18 71768284 71768284 single base substitution C T upstream_gene_variant MELA-AU 18 71768859 71768859 single base substitution C T intron_variant MELA-AU 18 71768859 71768859 single base substitution C T upstream_gene_variant MELA-AU 18 71768865 71768865 single base substitution G A intron_variant MELA-AU 18 71768865 71768865 single base substitution G A upstream_gene_variant MELA-AU 18 71769021 71769021 single base substitution G A intron_variant MELA-AU 18 71769021 71769021 single base substitution G A upstream_gene_variant MELA-AU 18 71769191 71769191 single base substitution A G intron_variant MELA-AU 18 71769191 71769191 single base substitution A G upstream_gene_variant MELA-AU 18 71769206 71769206 single base substitution G A intron_variant MELA-AU 18 71769206 71769206 single base substitution G A upstream_gene_variant MELA-AU 18 71769303 71769303 single base substitution G A intron_variant MELA-AU 18 71769303 71769303 single base substitution G A upstream_gene_variant MELA-AU 18 71769319 71769319 single base substitution G A intron_variant MELA-AU 18 71769319 71769319 single base substitution G A upstream_gene_variant MELA-AU 18 71769423 71769423 single base substitution G A intron_variant MELA-AU 18 71769423 71769423 single base substitution G A upstream_gene_variant MELA-AU 18 71769577 71769577 single base substitution A T intron_variant MELA-AU 18 71769577 71769577 single base substitution A T upstream_gene_variant MELA-AU 18 71769606 71769606 single base substitution G A intron_variant MELA-AU 18 71769606 71769606 single base substitution G A upstream_gene_variant MELA-AU 18 71769672 71769672 single base substitution C T intron_variant MELA-AU 18 71769672 71769672 single base substitution C T upstream_gene_variant MELA-AU 18 71769741 71769741 single base substitution G A intron_variant MELA-AU 18 71769741 71769741 single base substitution G A upstream_gene_variant MELA-AU 18 71769742 71769742 single base substitution G A intron_variant MELA-AU 18 71769742 71769742 single base substitution G A upstream_gene_variant MELA-AU 18 71769843 71769843 single base substitution C T intron_variant MELA-AU 18 71769843 71769843 single base substitution C T upstream_gene_variant MELA-AU 18 71769853 71769853 single base substitution G A intron_variant MELA-AU 18 71769853 71769853 single base substitution G A upstream_gene_variant MELA-AU 18 71770141 71770141 single base substitution G A intron_variant MELA-AU 18 71770141 71770141 single base substitution G A upstream_gene_variant MELA-AU 18 71770198 71770198 single base substitution G A intron_variant MELA-AU 18 71770198 71770198 single base substitution G A upstream_gene_variant MELA-AU 18 71770203 71770203 single base substitution G A intron_variant MELA-AU 18 71770203 71770203 single base substitution G A upstream_gene_variant MELA-AU 18 71770251 71770251 single base substitution G A intron_variant MELA-AU 18 71770251 71770251 single base substitution G A upstream_gene_variant MELA-AU 18 71770477 71770477 single base substitution G A intron_variant MELA-AU 18 71770477 71770477 single base substitution G A upstream_gene_variant MELA-AU 18 71770485 71770485 single base substitution C T intron_variant MELA-AU 18 71770485 71770485 single base substitution C T upstream_gene_variant MELA-AU 18 71770561 71770561 single base substitution G A intron_variant MELA-AU 18 71770561 71770561 single base substitution G A upstream_gene_variant MELA-AU 18 71771006 71771006 single base substitution G A intron_variant MELA-AU 18 71771006 71771006 single base substitution G A upstream_gene_variant MELA-AU 18 71771012 71771012 single base substitution C T intron_variant MELA-AU 18 71771012 71771012 single base substitution C T upstream_gene_variant MELA-AU 18 71771020 71771020 single base substitution C T intron_variant MELA-AU 18 71771020 71771020 single base substitution C T upstream_gene_variant MELA-AU 18 71771127 71771127 single base substitution G A intron_variant MELA-AU 18 71771127 71771127 single base substitution G A upstream_gene_variant MELA-AU 18 71771239 71771239 single base substitution C T intron_variant MELA-AU 18 71771239 71771239 single base substitution C T upstream_gene_variant MELA-AU 18 71771310 71771310 single base substitution G A intron_variant MELA-AU 18 71771310 71771310 single base substitution G A upstream_gene_variant MELA-AU 18 71771349 71771349 single base substitution G A intron_variant MELA-AU 18 71771349 71771349 single base substitution G A upstream_gene_variant MELA-AU 18 71771421 71771421 single base substitution C T intron_variant MELA-AU 18 71771421 71771421 single base substitution C T upstream_gene_variant MELA-AU 18 71771507 71771507 single base substitution G A intron_variant MELA-AU 18 71771507 71771507 single base substitution G A upstream_gene_variant MELA-AU 18 71771601 71771601 single base substitution G A intron_variant MELA-AU 18 71771601 71771601 single base substitution G A upstream_gene_variant MELA-AU 18 71771661 71771661 single base substitution C T intron_variant MELA-AU 18 71771661 71771661 single base substitution C T upstream_gene_variant MELA-AU 18 71771770 71771770 single base substitution C G intron_variant MELA-AU 18 71771770 71771770 single base substitution C G upstream_gene_variant MELA-AU 18 71771784 71771784 single base substitution G A intron_variant MELA-AU 18 71771784 71771784 single base substitution G A upstream_gene_variant MELA-AU 18 71771894 71771894 single base substitution G A intron_variant MELA-AU 18 71771894 71771894 single base substitution G A upstream_gene_variant MELA-AU 18 71772006 71772006 single base substitution C T intron_variant MELA-AU 18 71772006 71772006 single base substitution C T upstream_gene_variant MELA-AU 18 71772177 71772177 single base substitution G A intron_variant MELA-AU 18 71772177 71772177 single base substitution G A upstream_gene_variant MELA-AU 18 71772571 71772571 single base substitution A G intron_variant MELA-AU 18 71772754 71772754 single base substitution A C intron_variant MELA-AU 18 71772843 71772843 insertion of <=200bp - G intron_variant MELA-AU 18 71772875 71772875 single base substitution G A intron_variant MELA-AU 18 71772927 71772927 single base substitution C T intron_variant MELA-AU 18 71773044 71773044 single base substitution G A intron_variant MELA-AU 18 71773099 71773099 single base substitution C T intron_variant MELA-AU 18 71773197 71773197 single base substitution G A intron_variant MELA-AU 18 71773230 71773230 single base substitution C T intron_variant MELA-AU 18 71773584 71773584 single base substitution T C intron_variant MELA-AU 18 71773612 71773612 single base substitution G A intron_variant MELA-AU 18 71773751 71773751 single base substitution T C intron_variant MELA-AU 18 71773971 71773971 single base substitution G A intron_variant MELA-AU 18 71773993 71773993 single base substitution C T intron_variant MELA-AU 18 71774132 71774132 single base substitution A T intron_variant MELA-AU 18 71774326 71774326 single base substitution G A intron_variant MELA-AU 18 71774419 71774419 single base substitution G A intron_variant MELA-AU 18 71774452 71774452 single base substitution C T intron_variant MELA-AU 18 71774500 71774500 single base substitution G A intron_variant MELA-AU 18 71774683 71774683 single base substitution C T intron_variant MELA-AU 18 71774794 71774794 single base substitution C T intron_variant MELA-AU 18 71774837 71774837 single base substitution G A intron_variant MELA-AU 18 71774907 71774907 single base substitution G A intron_variant MELA-AU 18 71774908 71774908 single base substitution G A intron_variant MELA-AU 18 71774922 71774922 single base substitution G A intron_variant MELA-AU 18 71774963 71774963 single base substitution C T intron_variant MELA-AU 18 71774998 71774998 single base substitution C T intron_variant MELA-AU 18 71775018 71775018 single base substitution G A intron_variant MELA-AU 18 71775022 71775022 single base substitution G A intron_variant MELA-AU 18 71775024 71775024 single base substitution G A intron_variant MELA-AU 18 71775143 71775143 single base substitution G A intron_variant MELA-AU 18 71775275 71775275 single base substitution G A intron_variant MELA-AU 18 71775476 71775476 single base substitution G A intron_variant MELA-AU 18 71775857 71775857 single base substitution G A intron_variant MELA-AU 18 71776259 71776259 single base substitution G A intron_variant MELA-AU 18 71776406 71776406 single base substitution G A intron_variant MELA-AU 18 71776407 71776407 single base substitution G A intron_variant MELA-AU 18 71776844 71776844 single base substitution G A intron_variant MELA-AU 18 71777067 71777067 single base substitution G A intron_variant MELA-AU 18 71777228 71777228 single base substitution G A intron_variant MELA-AU 18 71777265 71777265 single base substitution G A intron_variant MELA-AU 18 71777300 71777300 single base substitution A T intron_variant MELA-AU 18 71777415 71777415 single base substitution T C intron_variant MELA-AU 18 71777417 71777417 single base substitution C T intron_variant MELA-AU 18 71778040 71778040 single base substitution G A intron_variant MELA-AU 18 71778801 71778801 single base substitution C T intron_variant MELA-AU 18 71778954 71778954 single base substitution G A intron_variant MELA-AU 18 71778998 71778998 single base substitution G A intron_variant MELA-AU 18 71779079 71779079 single base substitution G A intron_variant MELA-AU 18 71779350 71779350 single base substitution G A intron_variant MELA-AU 18 71779447 71779447 single base substitution C T intron_variant MELA-AU 18 71779652 71779652 single base substitution G A intron_variant MELA-AU 18 71779775 71779775 single base substitution C T intron_variant MELA-AU 18 71779806 71779806 single base substitution A C intron_variant MELA-AU 18 71779956 71779956 single base substitution C T intron_variant MELA-AU 18 71779994 71779994 single base substitution C T intron_variant MELA-AU 18 71780158 71780158 single base substitution C T intron_variant MELA-AU 18 71780225 71780225 single base substitution G A intron_variant MELA-AU 18 71780479 71780479 single base substitution G A intron_variant MELA-AU 18 71780533 71780534 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 71780560 71780560 single base substitution G A intron_variant MELA-AU 18 71780621 71780621 single base substitution A G intron_variant MELA-AU 18 71780685 71780685 single base substitution C T intron_variant MELA-AU 18 71780937 71780937 single base substitution G A intron_variant MELA-AU 18 71780978 71780978 single base substitution T A intron_variant MELA-AU 18 71781041 71781041 single base substitution C T intron_variant MELA-AU 18 71781684 71781684 single base substitution C T intron_variant MELA-AU 18 71781746 71781746 single base substitution A T intron_variant MELA-AU 18 71781784 71781784 single base substitution G A intron_variant MELA-AU 18 71781840 71781840 single base substitution C T intron_variant MELA-AU 18 71781872 71781872 single base substitution C T intron_variant MELA-AU 18 71782100 71782100 single base substitution G A intron_variant MELA-AU 18 71782125 71782125 single base substitution A C intron_variant MELA-AU 18 71782163 71782163 single base substitution A G intron_variant MELA-AU 18 71782246 71782246 single base substitution G A intron_variant MELA-AU 18 71782548 71782548 single base substitution G A intron_variant MELA-AU 18 71782688 71782688 single base substitution G A intron_variant MELA-AU 18 71782771 71782771 single base substitution G A intron_variant MELA-AU 18 71783334 71783334 single base substitution G A intron_variant MELA-AU 18 71783597 71783597 single base substitution G A intron_variant MELA-AU 18 71783908 71783908 single base substitution C T intron_variant MELA-AU 18 71783916 71783916 single base substitution C T intron_variant MELA-AU 18 71783993 71783993 single base substitution G A intron_variant MELA-AU 18 71784225 71784225 single base substitution G A intron_variant MELA-AU 18 71784535 71784535 single base substitution C T intron_variant MELA-AU 18 71784996 71784996 single base substitution C T downstream_gene_variant MELA-AU 18 71784996 71784996 single base substitution C T intron_variant MELA-AU 18 71785195 71785195 single base substitution A C downstream_gene_variant MELA-AU 18 71785195 71785195 single base substitution A C intron_variant MELA-AU 18 71785214 71785214 single base substitution C T downstream_gene_variant MELA-AU 18 71785214 71785214 single base substitution C T intron_variant MELA-AU 18 71785370 71785370 single base substitution C T downstream_gene_variant MELA-AU 18 71785370 71785370 single base substitution C T intron_variant MELA-AU 18 71785614 71785614 single base substitution G A downstream_gene_variant MELA-AU 18 71785614 71785614 single base substitution G A intron_variant MELA-AU 18 71785746 71785746 single base substitution G A downstream_gene_variant MELA-AU 18 71785746 71785746 single base substitution G A intron_variant MELA-AU 18 71786011 71786011 single base substitution C T downstream_gene_variant MELA-AU 18 71786011 71786011 single base substitution C T intron_variant MELA-AU 18 71786272 71786272 single base substitution G A downstream_gene_variant MELA-AU 18 71786272 71786272 single base substitution G A intron_variant MELA-AU 18 71786487 71786487 single base substitution C T downstream_gene_variant MELA-AU 18 71786487 71786487 single base substitution C T intron_variant MELA-AU 18 71786760 71786760 single base substitution G A downstream_gene_variant MELA-AU 18 71786760 71786760 single base substitution G A intron_variant MELA-AU 18 71786812 71786812 single base substitution G A downstream_gene_variant MELA-AU 18 71786812 71786812 single base substitution G A intron_variant MELA-AU 18 71786939 71786939 single base substitution G A downstream_gene_variant MELA-AU 18 71786939 71786939 single base substitution G A intron_variant MELA-AU 18 71787322 71787322 single base substitution G T downstream_gene_variant MELA-AU 18 71787322 71787322 single base substitution G T intron_variant MELA-AU 18 71787833 71787833 single base substitution G A downstream_gene_variant MELA-AU 18 71787833 71787833 single base substitution G A intron_variant MELA-AU 18 71787988 71787988 single base substitution C T downstream_gene_variant MELA-AU 18 71787988 71787988 single base substitution C T intron_variant MELA-AU 18 71788179 71788179 single base substitution G A downstream_gene_variant MELA-AU 18 71788179 71788179 single base substitution G A intron_variant MELA-AU 18 71788385 71788385 single base substitution C T downstream_gene_variant MELA-AU 18 71788385 71788385 single base substitution C T intron_variant MELA-AU 18 71788897 71788897 single base substitution C T downstream_gene_variant MELA-AU 18 71788897 71788897 single base substitution C T intron_variant MELA-AU 18 71789004 71789004 single base substitution G A downstream_gene_variant MELA-AU 18 71789004 71789004 single base substitution G A intron_variant MELA-AU 18 71789015 71789015 single base substitution G A downstream_gene_variant MELA-AU 18 71789015 71789015 single base substitution G A intron_variant MELA-AU 18 71789224 71789224 single base substitution C T downstream_gene_variant MELA-AU 18 71789224 71789224 single base substitution C T intron_variant MELA-AU 18 71789455 71789455 single base substitution G A downstream_gene_variant MELA-AU 18 71789455 71789455 single base substitution G A intron_variant MELA-AU 18 71790273 71790273 single base substitution C T 3_prime_UTR_variant MELA-AU 18 71790273 71790273 single base substitution C T intron_variant MELA-AU 18 71790277 71790277 single base substitution C T 3_prime_UTR_variant MELA-AU 18 71790277 71790277 single base substitution C T intron_variant MELA-AU 18 71790476 71790477 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 18 71790476 71790477 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 71790497 71790497 single base substitution G A 3_prime_UTR_variant MELA-AU 18 71790497 71790497 single base substitution G A intron_variant MELA-AU 18 71790605 71790605 single base substitution C T missense_variant R118K 353G>A MELA-AU 18 71790605 71790605 single base substitution C T missense_variant R303K 908G>A MELA-AU 18 71790605 71790605 single base substitution C T missense_variant R379K 1136G>A MELA-AU 18 71790605 71790605 single base substitution C T missense_variant R47K 140G>A MELA-AU 18 71790605 71790605 single base substitution C T splice_region_variant MELA-AU 18 71790672 71790672 single base substitution G A 3_prime_UTR_variant MELA-AU 18 71790672 71790672 single base substitution G A missense_variant H25Y 73C>T MELA-AU 18 71790672 71790672 single base substitution G A missense_variant H281Y 841C>T MELA-AU 18 71790672 71790672 single base substitution G A missense_variant H357Y 1069C>T MELA-AU 18 71790672 71790672 single base substitution G A missense_variant H96Y 286C>T MELA-AU 18 71790742 71790742 single base substitution G A 3_prime_UTR_variant MELA-AU 18 71790742 71790742 single base substitution G A synonymous_variant P1P 3C>T MELA-AU 18 71790742 71790742 single base substitution G A synonymous_variant P257P 771C>T MELA-AU 18 71790742 71790742 single base substitution G A synonymous_variant P333P 999C>T MELA-AU 18 71790742 71790742 single base substitution G A synonymous_variant P72P 216C>T MELA-AU 18 71790890 71790890 single base substitution C T intron_variant MELA-AU 18 71790890 71790890 single base substitution C T upstream_gene_variant MELA-AU 18 71791072 71791072 single base substitution G A intron_variant MELA-AU 18 71791072 71791072 single base substitution G A upstream_gene_variant MELA-AU 18 71791142 71791142 deletion of <=200bp G - intron_variant MELA-AU 18 71791142 71791142 deletion of <=200bp G - upstream_gene_variant MELA-AU 18 71791320 71791320 single base substitution G A intron_variant MELA-AU 18 71791320 71791320 single base substitution G A upstream_gene_variant MELA-AU 18 71792362 71792362 single base substitution C T downstream_gene_variant MELA-AU 18 71792362 71792362 single base substitution C T intron_variant MELA-AU 18 71792362 71792362 single base substitution C T upstream_gene_variant MELA-AU 18 71792572 71792572 single base substitution G A downstream_gene_variant MELA-AU 18 71792572 71792572 single base substitution G A intron_variant MELA-AU 18 71792572 71792572 single base substitution G A upstream_gene_variant MELA-AU 18 71792935 71792935 single base substitution G A downstream_gene_variant MELA-AU 18 71792935 71792935 single base substitution G A intron_variant MELA-AU 18 71792935 71792935 single base substitution G A upstream_gene_variant MELA-AU 18 71792969 71792969 single base substitution G A downstream_gene_variant MELA-AU 18 71792969 71792969 single base substitution G A intron_variant MELA-AU 18 71792969 71792969 single base substitution G A upstream_gene_variant MELA-AU 18 71793094 71793094 single base substitution G A downstream_gene_variant MELA-AU 18 71793094 71793094 single base substitution G A intron_variant MELA-AU 18 71793094 71793094 single base substitution G A upstream_gene_variant MELA-AU 18 71793424 71793424 single base substitution T A downstream_gene_variant MELA-AU 18 71793424 71793424 single base substitution T A intron_variant MELA-AU 18 71793424 71793424 single base substitution T A upstream_gene_variant MELA-AU 18 71793740 71793740 single base substitution C T downstream_gene_variant MELA-AU 18 71793740 71793740 single base substitution C T intron_variant MELA-AU 18 71793740 71793740 single base substitution C T upstream_gene_variant MELA-AU 18 71793812 71793812 single base substitution G A downstream_gene_variant MELA-AU 18 71793812 71793812 single base substitution G A intron_variant MELA-AU 18 71793812 71793812 single base substitution G A upstream_gene_variant MELA-AU 18 71794344 71794344 single base substitution T C downstream_gene_variant MELA-AU 18 71794344 71794344 single base substitution T C intron_variant MELA-AU 18 71794344 71794344 single base substitution T C upstream_gene_variant MELA-AU 18 71795291 71795291 single base substitution G A downstream_gene_variant MELA-AU 18 71795291 71795291 single base substitution G A intron_variant MELA-AU 18 71795291 71795291 single base substitution G A upstream_gene_variant MELA-AU 18 71795373 71795373 single base substitution G A downstream_gene_variant MELA-AU 18 71795373 71795373 single base substitution G A intron_variant MELA-AU 18 71795373 71795373 single base substitution G A upstream_gene_variant MELA-AU 18 71795485 71795485 single base substitution A G downstream_gene_variant MELA-AU 18 71795485 71795485 single base substitution A G intron_variant MELA-AU 18 71795485 71795485 single base substitution A G upstream_gene_variant MELA-AU 18 71795828 71795828 single base substitution C T downstream_gene_variant MELA-AU 18 71795828 71795828 single base substitution C T intron_variant MELA-AU 18 71795933 71795933 single base substitution G A downstream_gene_variant MELA-AU 18 71795933 71795933 single base substitution G A intron_variant MELA-AU 18 71796361 71796362 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 71796361 71796362 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 71796407 71796407 single base substitution A G downstream_gene_variant MELA-AU 18 71796407 71796407 single base substitution A G intron_variant MELA-AU 18 71796589 71796589 single base substitution T G downstream_gene_variant MELA-AU 18 71796589 71796589 single base substitution T G intron_variant MELA-AU 18 71797846 71797846 single base substitution G A 3_prime_UTR_variant MELA-AU 18 71797846 71797846 single base substitution G A intron_variant MELA-AU 18 71797846 71797846 single base substitution G A missense_variant S127L 380C>T MELA-AU 18 71797846 71797846 single base substitution G A missense_variant S51L 152C>T MELA-AU 18 71797846 71797846 single base substitution G A missense_variant S90L 269C>T MELA-AU 18 71797846 71797846 single base substitution G A upstream_gene_variant MELA-AU 18 71797953 71797953 single base substitution T C 3_prime_UTR_variant MELA-AU 18 71797953 71797953 single base substitution T C intron_variant MELA-AU 18 71797953 71797953 single base substitution T C upstream_gene_variant MELA-AU 18 71798162 71798162 single base substitution G A intron_variant MELA-AU 18 71798162 71798162 single base substitution G A upstream_gene_variant MELA-AU 18 71798198 71798198 single base substitution G A intron_variant MELA-AU 18 71798198 71798198 single base substitution G A upstream_gene_variant MELA-AU 18 71798203 71798203 single base substitution G A intron_variant MELA-AU 18 71798203 71798203 single base substitution G A upstream_gene_variant MELA-AU 18 71798747 71798747 single base substitution C T intron_variant MELA-AU 18 71798747 71798747 single base substitution C T upstream_gene_variant MELA-AU 18 71798758 71798758 single base substitution G A intron_variant MELA-AU 18 71798758 71798758 single base substitution G A upstream_gene_variant MELA-AU 18 71798831 71798831 single base substitution C T intron_variant MELA-AU 18 71798831 71798831 single base substitution C T upstream_gene_variant MELA-AU 18 71799229 71799229 single base substitution C T intron_variant MELA-AU 18 71799229 71799229 single base substitution C T upstream_gene_variant MELA-AU 18 71799392 71799392 single base substitution G A intron_variant MELA-AU 18 71799392 71799392 single base substitution G A upstream_gene_variant MELA-AU 18 71799760 71799760 single base substitution G A intron_variant MELA-AU 18 71799760 71799760 single base substitution G A upstream_gene_variant MELA-AU 18 71800162 71800163 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 71800162 71800163 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 71800524 71800524 single base substitution G A intron_variant MELA-AU 18 71800524 71800524 single base substitution G A upstream_gene_variant MELA-AU 18 71801278 71801278 single base substitution C T intron_variant MELA-AU 18 71801278 71801278 single base substitution C T upstream_gene_variant MELA-AU 18 71801569 71801569 single base substitution G A intron_variant MELA-AU 18 71801569 71801569 single base substitution G A upstream_gene_variant MELA-AU 18 71801702 71801702 single base substitution C T intron_variant MELA-AU 18 71801929 71801929 single base substitution G A intron_variant MELA-AU 18 71802131 71802131 single base substitution C T intron_variant MELA-AU 18 71802276 71802276 single base substitution G A intron_variant MELA-AU 18 71802364 71802364 single base substitution G A intron_variant MELA-AU 18 71802595 71802595 single base substitution G A intron_variant MELA-AU 18 71803077 71803077 single base substitution C T 3_prime_UTR_variant MELA-AU 18 71803077 71803077 single base substitution C T exon_variant MELA-AU 18 71803077 71803077 single base substitution C T synonymous_variant K47K 141G>A MELA-AU 18 71803077 71803077 single base substitution C T synonymous_variant K84K 252G>A MELA-AU 18 71803077 71803077 single base substitution C T synonymous_variant K8K 24G>A MELA-AU 18 71803285 71803285 single base substitution C T intron_variant MELA-AU 18 71803285 71803285 single base substitution C T upstream_gene_variant MELA-AU 18 71803451 71803451 single base substitution C T intron_variant MELA-AU 18 71803451 71803451 single base substitution C T upstream_gene_variant MELA-AU 18 71803541 71803541 single base substitution C T intron_variant MELA-AU 18 71803541 71803541 single base substitution C T upstream_gene_variant MELA-AU 18 71803774 71803774 single base substitution C T intron_variant MELA-AU 18 71803774 71803774 single base substitution C T upstream_gene_variant MELA-AU 18 71803822 71803822 single base substitution C T intron_variant MELA-AU 18 71803822 71803822 single base substitution C T upstream_gene_variant MELA-AU 18 71804024 71804024 single base substitution G A intron_variant MELA-AU 18 71804024 71804024 single base substitution G A upstream_gene_variant MELA-AU 18 71804065 71804065 single base substitution G A intron_variant MELA-AU 18 71804065 71804065 single base substitution G A upstream_gene_variant MELA-AU 18 71804252 71804252 single base substitution G A intron_variant MELA-AU 18 71804252 71804252 single base substitution G A upstream_gene_variant MELA-AU 18 71804360 71804360 single base substitution T G intron_variant MELA-AU 18 71804360 71804360 single base substitution T G upstream_gene_variant MELA-AU 18 71804361 71804361 single base substitution A G intron_variant MELA-AU 18 71804361 71804361 single base substitution A G upstream_gene_variant MELA-AU 18 71804394 71804394 single base substitution G A intron_variant MELA-AU 18 71804394 71804394 single base substitution G A upstream_gene_variant MELA-AU 18 71804518 71804518 single base substitution G A intron_variant MELA-AU 18 71804518 71804518 single base substitution G A upstream_gene_variant MELA-AU 18 71805196 71805196 single base substitution G A intron_variant MELA-AU 18 71805196 71805196 single base substitution G A upstream_gene_variant MELA-AU 18 71805259 71805259 single base substitution G T intron_variant MELA-AU 18 71805259 71805259 single base substitution G T upstream_gene_variant MELA-AU 18 71805546 71805546 single base substitution G A intron_variant MELA-AU 18 71805546 71805546 single base substitution G A upstream_gene_variant MELA-AU 18 71805679 71805679 single base substitution C T intron_variant MELA-AU 18 71805679 71805679 single base substitution C T upstream_gene_variant MELA-AU 18 71805706 71805706 single base substitution G A intron_variant MELA-AU 18 71805706 71805706 single base substitution G A upstream_gene_variant MELA-AU 18 71806191 71806191 single base substitution G A intron_variant MELA-AU 18 71806191 71806191 single base substitution G A upstream_gene_variant MELA-AU 18 71806423 71806423 single base substitution G A intron_variant MELA-AU 18 71806423 71806423 single base substitution G A upstream_gene_variant MELA-AU 18 71806424 71806424 single base substitution G A intron_variant MELA-AU 18 71806424 71806424 single base substitution G A upstream_gene_variant MELA-AU 18 71806502 71806502 single base substitution C T intron_variant MELA-AU 18 71806502 71806502 single base substitution C T upstream_gene_variant MELA-AU 18 71806531 71806531 single base substitution C T intron_variant MELA-AU 18 71806531 71806531 single base substitution C T upstream_gene_variant MELA-AU 18 71806603 71806603 single base substitution G A intron_variant MELA-AU 18 71806603 71806603 single base substitution G A upstream_gene_variant MELA-AU 18 71806866 71806866 single base substitution A C intron_variant MELA-AU 18 71806866 71806866 single base substitution A C upstream_gene_variant MELA-AU 18 71806962 71806962 single base substitution T A intron_variant MELA-AU 18 71806962 71806962 single base substitution T A upstream_gene_variant MELA-AU 18 71807085 71807085 single base substitution G A intron_variant MELA-AU 18 71807085 71807085 single base substitution G A upstream_gene_variant MELA-AU 18 71807184 71807184 single base substitution G A intron_variant MELA-AU 18 71807184 71807184 single base substitution G A upstream_gene_variant MELA-AU 18 71807269 71807270 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 71807269 71807270 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 71807445 71807445 single base substitution G A 3_prime_UTR_variant MELA-AU 18 71807445 71807445 single base substitution G A 5_prime_UTR_variant MELA-AU 18 71807445 71807445 single base substitution G A intron_variant MELA-AU 18 71807445 71807445 single base substitution G A synonymous_variant F73F 219C>T MELA-AU 18 71807445 71807445 single base substitution G A upstream_gene_variant MELA-AU 18 71807838 71807838 single base substitution G A intron_variant MELA-AU 18 71807838 71807838 single base substitution G A upstream_gene_variant MELA-AU 18 71807848 71807848 single base substitution G A intron_variant MELA-AU 18 71807848 71807848 single base substitution G A upstream_gene_variant MELA-AU 18 71807887 71807887 single base substitution G A intron_variant MELA-AU 18 71807887 71807887 single base substitution G A upstream_gene_variant MELA-AU 18 71808050 71808050 single base substitution G A intron_variant MELA-AU 18 71808050 71808050 single base substitution G A upstream_gene_variant MELA-AU 18 71808129 71808129 single base substitution T G intron_variant MELA-AU 18 71808364 71808364 single base substitution G A intron_variant MELA-AU 18 71808805 71808805 single base substitution A C intron_variant MELA-AU 18 71808844 71808844 single base substitution A G intron_variant MELA-AU 18 71808894 71808894 single base substitution G A intron_variant MELA-AU 18 71809288 71809288 single base substitution G A intron_variant MELA-AU 18 71809377 71809377 single base substitution C T intron_variant MELA-AU 18 71809949 71809949 single base substitution G A intron_variant MELA-AU 18 71810020 71810020 single base substitution G A intron_variant MELA-AU 18 71810113 71810113 single base substitution A G intron_variant MELA-AU 18 71810686 71810686 single base substitution G A intron_variant MELA-AU 18 71810997 71810997 single base substitution T C intron_variant MELA-AU 18 71811029 71811029 single base substitution C T intron_variant MELA-AU 18 71811690 71811690 single base substitution G A intron_variant MELA-AU 18 71811691 71811691 single base substitution G A intron_variant MELA-AU 18 71811793 71811793 single base substitution G A intron_variant MELA-AU 18 71812102 71812102 single base substitution G A intron_variant MELA-AU 18 71812171 71812171 single base substitution C T intron_variant MELA-AU 18 71812230 71812230 single base substitution C T intron_variant MELA-AU 18 71812371 71812371 single base substitution G A intron_variant MELA-AU 18 71812677 71812677 single base substitution G A intron_variant MELA-AU 18 71812975 71812975 single base substitution G A intron_variant MELA-AU 18 71813076 71813076 single base substitution G A intron_variant MELA-AU 18 71813670 71813670 single base substitution G A intron_variant MELA-AU 18 71814887 71814887 single base substitution C T 3_prime_UTR_variant MELA-AU 18 71814887 71814887 single base substitution C T 5_prime_UTR_variant MELA-AU 18 71814887 71814887 single base substitution C T exon_variant MELA-AU 18 71814887 71814887 single base substitution C T intron_variant MELA-AU 18 71814887 71814887 single base substitution C T upstream_gene_variant MELA-AU 18 71815209 71815209 single base substitution C T upstream_gene_variant MELA-AU 18 71815216 71815216 single base substitution C T upstream_gene_variant MELA-AU 18 71815589 71815589 single base substitution C T upstream_gene_variant MELA-AU 18 71815628 71815628 single base substitution G A upstream_gene_variant MELA-AU 18 71815632 71815632 single base substitution G A upstream_gene_variant MELA-AU 18 71815647 71815647 single base substitution C T upstream_gene_variant MELA-AU 18 71815661 71815661 single base substitution T A upstream_gene_variant MELA-AU 18 71815692 71815692 single base substitution C T upstream_gene_variant MELA-AU 18 71815698 71815698 single base substitution C T upstream_gene_variant MELA-AU 18 71815703 71815703 single base substitution C T upstream_gene_variant MELA-AU 18 71815741 71815741 single base substitution G A upstream_gene_variant MELA-AU 18 71815762 71815762 single base substitution G A upstream_gene_variant MELA-AU 18 71816769 71816769 single base substitution C T upstream_gene_variant MELA-AU 18 71817119 71817119 single base substitution G A upstream_gene_variant MELA-AU 18 71817603 71817603 single base substitution T C upstream_gene_variant MELA-AU 18 71817723 71817723 single base substitution C T upstream_gene_variant MELA-AU 18 71817897 71817897 single base substitution C A upstream_gene_variant MELA-AU 18 71818344 71818344 single base substitution C T upstream_gene_variant MELA-AU 18 71819094 71819094 single base substitution C T upstream_gene_variant MELA-AU 18 71819195 71819195 single base substitution C T upstream_gene_variant MELA-AU 18 71819677 71819677 single base substitution C T upstream_gene_variant ORCA-IN 18 71736809 71736809 single base substitution C A downstream_gene_variant ORCA-IN 18 71770812 71770812 single base substitution C G intron_variant ORCA-IN 18 71770812 71770812 single base substitution C G upstream_gene_variant OV-AU 18 71745367 71745367 single base substitution T C intron_variant OV-AU 18 71748832 71748832 single base substitution T G intron_variant OV-AU 18 71748832 71748832 single base substitution T G upstream_gene_variant OV-AU 18 71748844 71748844 single base substitution C T intron_variant OV-AU 18 71748844 71748844 single base substitution C T upstream_gene_variant OV-AU 18 71751670 71751670 single base substitution G A intron_variant OV-AU 18 71751670 71751670 single base substitution G A upstream_gene_variant OV-AU 18 71753569 71753569 single base substitution G C intron_variant OV-AU 18 71753569 71753569 single base substitution G C upstream_gene_variant OV-AU 18 71754053 71754053 single base substitution A G intron_variant OV-AU 18 71754053 71754053 single base substitution A G upstream_gene_variant OV-AU 18 71763616 71763616 single base substitution T C intron_variant OV-AU 18 71771629 71771629 single base substitution A C intron_variant OV-AU 18 71771629 71771629 single base substitution A C upstream_gene_variant OV-AU 18 71774900 71774900 single base substitution A T intron_variant OV-AU 18 71777549 71777549 single base substitution T A intron_variant OV-AU 18 71793203 71793203 single base substitution G T downstream_gene_variant OV-AU 18 71793203 71793203 single base substitution G T intron_variant OV-AU 18 71793203 71793203 single base substitution G T splice_region_variant OV-AU 18 71793203 71793203 single base substitution G T upstream_gene_variant OV-AU 18 71793625 71793625 single base substitution C T downstream_gene_variant OV-AU 18 71793625 71793625 single base substitution C T intron_variant OV-AU 18 71793625 71793625 single base substitution C T upstream_gene_variant OV-AU 18 71801920 71801920 single base substitution C G intron_variant OV-AU 18 71807097 71807097 single base substitution G T intron_variant OV-AU 18 71807097 71807097 single base substitution G T upstream_gene_variant OV-AU 18 71807099 71807099 single base substitution T A intron_variant OV-AU 18 71807099 71807099 single base substitution T A upstream_gene_variant OV-AU 18 71808985 71808985 single base substitution G T intron_variant OV-AU 18 71811711 71811711 single base substitution C A intron_variant OV-AU 18 71814774 71814774 single base substitution A G intron_variant OV-AU 18 71814774 71814774 single base substitution A G splice_donor_variant OV-AU 18 71814774 71814774 single base substitution A G upstream_gene_variant OV-AU 18 71816306 71816306 single base substitution G A upstream_gene_variant OV-AU 18 71819556 71819556 single base substitution G T upstream_gene_variant OV-AU 18 71819794 71819794 single base substitution C T upstream_gene_variant PACA-AU 18 71738818 71738818 single base substitution G A downstream_gene_variant PACA-AU 18 71740852 71740852 single base substitution G T 3_prime_UTR_variant PACA-AU 18 71740852 71740852 single base substitution G T exon_variant PACA-AU 18 71740852 71740852 single base substitution G T missense_variant F383L 1149C>A PACA-AU 18 71740852 71740852 single base substitution G T missense_variant F459L 1377C>A PACA-AU 18 71741608 71741608 single base substitution G A intron_variant PACA-AU 18 71746221 71746221 single base substitution A C intron_variant PACA-AU 18 71746221 71746221 single base substitution A C upstream_gene_variant PACA-AU 18 71753271 71753271 single base substitution A G intron_variant PACA-AU 18 71753271 71753271 single base substitution A G upstream_gene_variant PACA-AU 18 71757435 71757435 single base substitution G C intron_variant PACA-AU 18 71758360 71758360 single base substitution G C intron_variant PACA-AU 18 71761279 71761279 single base substitution C T intron_variant PACA-AU 18 71763171 71763203 deletion of <=200bp CTGAGGCCACAGAGAAGTGAAAGACCCTGAGCA - intron_variant PACA-AU 18 71763905 71763907 deletion of <=200bp AAC - intron_variant PACA-AU 18 71772895 71772895 single base substitution C T intron_variant PACA-AU 18 71775861 71775861 single base substitution C T intron_variant PACA-AU 18 71775999 71775999 single base substitution C T intron_variant PACA-AU 18 71776097 71776097 single base substitution T C intron_variant PACA-AU 18 71777942 71777942 single base substitution G A intron_variant PACA-AU 18 71782389 71782389 single base substitution G A intron_variant PACA-AU 18 71783576 71783576 single base substitution G A intron_variant PACA-AU 18 71785603 71785603 insertion of <=200bp - T downstream_gene_variant PACA-AU 18 71785603 71785603 insertion of <=200bp - T intron_variant PACA-AU 18 71791985 71791985 single base substitution T A downstream_gene_variant PACA-AU 18 71791985 71791985 single base substitution T A intron_variant PACA-AU 18 71791985 71791985 single base substitution T A upstream_gene_variant PACA-AU 18 71791990 71791990 single base substitution T G downstream_gene_variant PACA-AU 18 71791990 71791990 single base substitution T G intron_variant PACA-AU 18 71791990 71791990 single base substitution T G upstream_gene_variant PACA-AU 18 71795049 71795049 single base substitution A G downstream_gene_variant PACA-AU 18 71795049 71795049 single base substitution A G intron_variant PACA-AU 18 71795049 71795049 single base substitution A G upstream_gene_variant PACA-AU 18 71802406 71802406 single base substitution G T intron_variant PACA-AU 18 71803705 71803706 deletion of <=200bp AC - intron_variant PACA-AU 18 71803705 71803706 deletion of <=200bp AC - upstream_gene_variant PACA-AU 18 71807292 71807292 single base substitution A G intron_variant PACA-AU 18 71807292 71807292 single base substitution A G upstream_gene_variant PACA-AU 18 71816275 71816275 single base substitution G A upstream_gene_variant PACA-CA 18 71736011 71736011 single base substitution A T downstream_gene_variant PACA-CA 18 71736102 71736102 single base substitution C T downstream_gene_variant PACA-CA 18 71736429 71736429 single base substitution A G downstream_gene_variant PACA-CA 18 71739187 71739187 single base substitution C T downstream_gene_variant PACA-CA 18 71739647 71739647 single base substitution C T downstream_gene_variant PACA-CA 18 71746092 71746092 single base substitution G A intron_variant PACA-CA 18 71746092 71746092 single base substitution G A upstream_gene_variant PACA-CA 18 71748768 71748768 single base substitution A G intron_variant PACA-CA 18 71748768 71748768 single base substitution A G upstream_gene_variant PACA-CA 18 71751848 71751848 single base substitution A G intron_variant PACA-CA 18 71751848 71751848 single base substitution A G upstream_gene_variant PACA-CA 18 71757762 71757762 single base substitution C T intron_variant PACA-CA 18 71758845 71758845 single base substitution G T intron_variant PACA-CA 18 71763248 71763248 single base substitution G A intron_variant PACA-CA 18 71765035 71765035 single base substitution A C exon_variant PACA-CA 18 71765035 71765035 single base substitution A C intron_variant PACA-CA 18 71765035 71765035 single base substitution A C upstream_gene_variant PACA-CA 18 71765437 71765437 single base substitution C A exon_variant PACA-CA 18 71765437 71765437 single base substitution C A intron_variant PACA-CA 18 71765437 71765437 single base substitution C A upstream_gene_variant PACA-CA 18 71767187 71767187 single base substitution C A exon_variant PACA-CA 18 71767187 71767187 single base substitution C A intron_variant PACA-CA 18 71767187 71767187 single base substitution C A upstream_gene_variant PACA-CA 18 71769392 71769404 deletion of <=200bp AGTTAGTAAACAG - intron_variant PACA-CA 18 71769392 71769404 deletion of <=200bp AGTTAGTAAACAG - upstream_gene_variant PACA-CA 18 71774339 71774339 single base substitution G A intron_variant PACA-CA 18 71774443 71774443 single base substitution C A intron_variant PACA-CA 18 71776170 71776170 single base substitution T A intron_variant PACA-CA 18 71785649 71785650 deletion of <=200bp AT - downstream_gene_variant PACA-CA 18 71785649 71785650 deletion of <=200bp AT - intron_variant PACA-CA 18 71785661 71785661 single base substitution A G downstream_gene_variant PACA-CA 18 71785661 71785661 single base substitution A G intron_variant PACA-CA 18 71792233 71792233 single base substitution C T downstream_gene_variant PACA-CA 18 71792233 71792233 single base substitution C T intron_variant PACA-CA 18 71792233 71792233 single base substitution C T upstream_gene_variant PACA-CA 18 71793850 71793850 single base substitution A T downstream_gene_variant PACA-CA 18 71793850 71793850 single base substitution A T intron_variant PACA-CA 18 71793850 71793850 single base substitution A T upstream_gene_variant PACA-CA 18 71794283 71794283 single base substitution G A downstream_gene_variant PACA-CA 18 71794283 71794283 single base substitution G A intron_variant PACA-CA 18 71794283 71794283 single base substitution G A upstream_gene_variant PACA-CA 18 71796076 71796076 single base substitution C T downstream_gene_variant PACA-CA 18 71796076 71796076 single base substitution C T intron_variant PACA-CA 18 71799406 71799406 single base substitution C T intron_variant PACA-CA 18 71799406 71799406 single base substitution C T upstream_gene_variant PACA-CA 18 71799407 71799407 single base substitution G A intron_variant PACA-CA 18 71799407 71799407 single base substitution G A upstream_gene_variant PACA-CA 18 71801408 71801408 single base substitution T G intron_variant PACA-CA 18 71801408 71801408 single base substitution T G upstream_gene_variant PACA-CA 18 71804546 71804546 single base substitution T C intron_variant PACA-CA 18 71804546 71804546 single base substitution T C upstream_gene_variant PACA-CA 18 71805545 71805545 single base substitution C T intron_variant PACA-CA 18 71805545 71805545 single base substitution C T upstream_gene_variant PACA-CA 18 71808121 71808121 single base substitution T A intron_variant PACA-CA 18 71808402 71808402 single base substitution C T intron_variant PACA-CA 18 71810595 71810595 single base substitution G A intron_variant PACA-CA 18 71812474 71812474 single base substitution C T intron_variant PACA-CA 18 71814017 71814017 single base substitution G T intron_variant PACA-CA 18 71815162 71815162 single base substitution G T upstream_gene_variant PACA-CA 18 71815625 71815625 single base substitution C T upstream_gene_variant PAEN-AU 18 71740723 71740723 single base substitution G T 3_prime_UTR_variant PAEN-AU 18 71740723 71740723 single base substitution G T downstream_gene_variant PAEN-AU 18 71740723 71740723 single base substitution G T exon_variant PAEN-AU 18 71740723 71740723 single base substitution G T synonymous_variant I426I 1278C>A PAEN-AU 18 71740723 71740723 single base substitution G T synonymous_variant I502I 1506C>A PAEN-AU 18 71768781 71768781 single base substitution G A intron_variant PAEN-AU 18 71768781 71768781 single base substitution G A upstream_gene_variant PAEN-AU 18 71790017 71790017 single base substitution C G 3_prime_UTR_variant PAEN-AU 18 71790017 71790017 single base substitution C G intron_variant PAEN-AU 18 71793010 71793010 single base substitution C A downstream_gene_variant PAEN-AU 18 71793010 71793010 single base substitution C A intron_variant PAEN-AU 18 71793010 71793010 single base substitution C A upstream_gene_variant PAEN-AU 18 71813832 71813832 single base substitution G A intron_variant PAEN-IT 18 71763478 71763478 single base substitution G T intron_variant PAEN-IT 18 71769723 71769723 single base substitution A G intron_variant PAEN-IT 18 71769723 71769723 single base substitution A G upstream_gene_variant PAEN-IT 18 71777976 71777976 single base substitution C G intron_variant PAEN-IT 18 71803690 71803690 single base substitution G T intron_variant PAEN-IT 18 71803690 71803690 single base substitution G T upstream_gene_variant PBCA-DE 18 71753349 71753349 insertion of <=200bp - G intron_variant PBCA-DE 18 71753349 71753349 insertion of <=200bp - G upstream_gene_variant PBCA-DE 18 71755704 71755704 single base substitution C T intron_variant PBCA-DE 18 71758475 71758475 single base substitution G T intron_variant PBCA-DE 18 71763704 71763704 single base substitution C A intron_variant PBCA-DE 18 71775529 71775529 single base substitution T A intron_variant PBCA-DE 18 71785198 71785198 single base substitution C A downstream_gene_variant PBCA-DE 18 71785198 71785198 single base substitution C A intron_variant PBCA-DE 18 71785649 71785649 insertion of <=200bp - AT downstream_gene_variant PBCA-DE 18 71785649 71785649 insertion of <=200bp - AT intron_variant PBCA-DE 18 71785649 71785650 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 18 71785649 71785650 deletion of <=200bp AT - intron_variant PBCA-DE 18 71810852 71810852 single base substitution C T intron_variant PBCA-DE 18 71819184 71819184 single base substitution C G upstream_gene_variant PRAD-CA 18 71770352 71770352 single base substitution T A intron_variant PRAD-CA 18 71770352 71770352 single base substitution T A upstream_gene_variant PRAD-CA 18 71777233 71777233 single base substitution C G intron_variant PRAD-CA 18 71778514 71778514 single base substitution G A intron_variant PRAD-CA 18 71793892 71793892 single base substitution A G downstream_gene_variant PRAD-CA 18 71793892 71793892 single base substitution A G intron_variant PRAD-CA 18 71793892 71793892 single base substitution A G upstream_gene_variant PRAD-CA 18 71811994 71811994 single base substitution T C intron_variant PRAD-UK 18 71740355 71740355 single base substitution C T downstream_gene_variant PRAD-UK 18 71741360 71741360 single base substitution C T intron_variant PRAD-UK 18 71741608 71741608 single base substitution G A intron_variant PRAD-UK 18 71743416 71743416 single base substitution C T intron_variant PRAD-UK 18 71762620 71762620 single base substitution C T intron_variant PRAD-UK 18 71766202 71766202 single base substitution A G exon_variant PRAD-UK 18 71766202 71766202 single base substitution A G intron_variant PRAD-UK 18 71766202 71766202 single base substitution A G upstream_gene_variant PRAD-UK 18 71774498 71774498 single base substitution G A intron_variant PRAD-UK 18 71775368 71775368 insertion of <=200bp - A intron_variant PRAD-UK 18 71781410 71781410 single base substitution C A intron_variant PRAD-UK 18 71797655 71797655 single base substitution G C 3_prime_UTR_variant PRAD-UK 18 71797655 71797655 single base substitution G C downstream_gene_variant PRAD-UK 18 71797655 71797655 single base substitution G C intron_variant PRAD-UK 18 71797655 71797655 single base substitution G C missense_variant L115V 343C>G PRAD-UK 18 71797655 71797655 single base substitution G C missense_variant L191V 571C>G PRAD-UK 18 71797655 71797655 single base substitution G C upstream_gene_variant PRAD-US 18 71790685 71790685 single base substitution G A 3_prime_UTR_variant PRAD-US 18 71790685 71790685 single base substitution G A synonymous_variant H20H 60C>T PRAD-US 18 71790685 71790685 single base substitution G A synonymous_variant H276H 828C>T PRAD-US 18 71790685 71790685 single base substitution G A synonymous_variant H352H 1056C>T PRAD-US 18 71790685 71790685 single base substitution G A synonymous_variant H91H 273C>T READ-US 18 71740932 71740932 single base substitution C A 3_prime_UTR_variant READ-US 18 71740932 71740932 single base substitution C A exon_variant READ-US 18 71740932 71740932 single base substitution C A intron_variant READ-US 18 71740932 71740932 single base substitution C A stop_gained E357* 1069G>T READ-US 18 71740932 71740932 single base substitution C A stop_gained E433* 1297G>T READ-US 18 71796815 71796815 single base substitution C A 3_prime_UTR_variant READ-US 18 71796815 71796815 single base substitution C A downstream_gene_variant READ-US 18 71796815 71796815 single base substitution C A intron_variant READ-US 18 71796815 71796815 single base substitution C A stop_gained E128* 382G>T READ-US 18 71796815 71796815 single base substitution C A stop_gained E204* 610G>T READ-US 18 71796815 71796815 single base substitution C A upstream_gene_variant RECA-EU 18 71737948 71737948 single base substitution A G downstream_gene_variant RECA-EU 18 71755561 71755561 single base substitution T C intron_variant RECA-EU 18 71776470 71776470 single base substitution T A intron_variant RECA-EU 18 71781836 71781836 single base substitution A G intron_variant RECA-EU 18 71818571 71818571 single base substitution C A upstream_gene_variant RECA-EU 18 71819511 71819511 single base substitution C A upstream_gene_variant SKCA-BR 18 71735882 71735882 single base substitution C T downstream_gene_variant SKCA-BR 18 71736403 71736403 single base substitution C T downstream_gene_variant SKCA-BR 18 71736522 71736522 single base substitution C T downstream_gene_variant SKCA-BR 18 71736553 71736553 single base substitution T G downstream_gene_variant SKCA-BR 18 71738073 71738073 single base substitution G A downstream_gene_variant SKCA-BR 18 71738268 71738268 single base substitution G A downstream_gene_variant SKCA-BR 18 71739009 71739009 single base substitution C T downstream_gene_variant SKCA-BR 18 71739091 71739091 single base substitution G A downstream_gene_variant SKCA-BR 18 71739253 71739253 single base substitution C A downstream_gene_variant SKCA-BR 18 71739546 71739546 single base substitution G A downstream_gene_variant SKCA-BR 18 71739838 71739838 single base substitution G A downstream_gene_variant SKCA-BR 18 71740281 71740281 single base substitution G A downstream_gene_variant SKCA-BR 18 71741705 71741705 single base substitution C T intron_variant SKCA-BR 18 71743373 71743373 single base substitution G A intron_variant SKCA-BR 18 71747319 71747319 single base substitution C T intron_variant SKCA-BR 18 71747319 71747319 single base substitution C T upstream_gene_variant SKCA-BR 18 71749286 71749286 single base substitution C T exon_variant SKCA-BR 18 71749286 71749286 single base substitution C T missense_variant G304E 911G>A SKCA-BR 18 71749286 71749286 single base substitution C T missense_variant G380E 1139G>A SKCA-BR 18 71749286 71749286 single base substitution C T missense_variant G48E 143G>A SKCA-BR 18 71749286 71749286 single base substitution C T splice_region_variant SKCA-BR 18 71749286 71749286 single base substitution C T upstream_gene_variant SKCA-BR 18 71749927 71749927 single base substitution A G intron_variant SKCA-BR 18 71749927 71749927 single base substitution A G upstream_gene_variant SKCA-BR 18 71750360 71750360 single base substitution G A intron_variant SKCA-BR 18 71750360 71750360 single base substitution G A upstream_gene_variant SKCA-BR 18 71752438 71752438 single base substitution G A intron_variant SKCA-BR 18 71752438 71752438 single base substitution G A upstream_gene_variant SKCA-BR 18 71752467 71752467 single base substitution A T intron_variant SKCA-BR 18 71752467 71752467 single base substitution A T upstream_gene_variant SKCA-BR 18 71752620 71752620 single base substitution G A intron_variant SKCA-BR 18 71752620 71752620 single base substitution G A upstream_gene_variant SKCA-BR 18 71753534 71753534 single base substitution G A intron_variant SKCA-BR 18 71753534 71753534 single base substitution G A upstream_gene_variant SKCA-BR 18 71754167 71754167 single base substitution C T intron_variant SKCA-BR 18 71754167 71754167 single base substitution C T upstream_gene_variant SKCA-BR 18 71755941 71755941 single base substitution G A intron_variant SKCA-BR 18 71757188 71757188 single base substitution C T intron_variant SKCA-BR 18 71757880 71757880 single base substitution C A intron_variant SKCA-BR 18 71758943 71758943 single base substitution A C intron_variant SKCA-BR 18 71759294 71759294 single base substitution G A intron_variant SKCA-BR 18 71759890 71759890 single base substitution G A intron_variant SKCA-BR 18 71762005 71762005 single base substitution G A intron_variant SKCA-BR 18 71762717 71762717 single base substitution G A intron_variant SKCA-BR 18 71763367 71763367 single base substitution G A intron_variant SKCA-BR 18 71763609 71763609 single base substitution G A intron_variant SKCA-BR 18 71764158 71764158 single base substitution G A intron_variant SKCA-BR 18 71764389 71764389 single base substitution G A exon_variant SKCA-BR 18 71764389 71764389 single base substitution G A intron_variant SKCA-BR 18 71764389 71764389 single base substitution G A splice_region_variant SKCA-BR 18 71765591 71765591 single base substitution G A exon_variant SKCA-BR 18 71765591 71765591 single base substitution G A intron_variant SKCA-BR 18 71765591 71765591 single base substitution G A upstream_gene_variant SKCA-BR 18 71765623 71765623 single base substitution G A exon_variant SKCA-BR 18 71765623 71765623 single base substitution G A intron_variant SKCA-BR 18 71765623 71765623 single base substitution G A upstream_gene_variant SKCA-BR 18 71765665 71765665 single base substitution A G exon_variant SKCA-BR 18 71765665 71765665 single base substitution A G intron_variant SKCA-BR 18 71765665 71765665 single base substitution A G upstream_gene_variant SKCA-BR 18 71766346 71766346 single base substitution G A exon_variant SKCA-BR 18 71766346 71766346 single base substitution G A intron_variant SKCA-BR 18 71766346 71766346 single base substitution G A upstream_gene_variant SKCA-BR 18 71767541 71767541 single base substitution C T intron_variant SKCA-BR 18 71767541 71767541 single base substitution C T upstream_gene_variant SKCA-BR 18 71767578 71767578 single base substitution G A intron_variant SKCA-BR 18 71767578 71767578 single base substitution G A upstream_gene_variant SKCA-BR 18 71772042 71772042 single base substitution G A intron_variant SKCA-BR 18 71772042 71772042 single base substitution G A upstream_gene_variant SKCA-BR 18 71772358 71772358 single base substitution G A intron_variant SKCA-BR 18 71772367 71772367 single base substitution G A intron_variant SKCA-BR 18 71774060 71774060 single base substitution G A intron_variant SKCA-BR 18 71774428 71774429 deletion of <=200bp TA - intron_variant SKCA-BR 18 71775492 71775492 single base substitution T C intron_variant SKCA-BR 18 71777066 71777066 single base substitution G A intron_variant SKCA-BR 18 71777205 71777205 single base substitution A C intron_variant SKCA-BR 18 71777399 71777399 insertion of <=200bp - CAT intron_variant SKCA-BR 18 71780534 71780534 single base substitution G A intron_variant SKCA-BR 18 71781522 71781522 single base substitution G A intron_variant SKCA-BR 18 71782727 71782727 single base substitution C T intron_variant SKCA-BR 18 71782874 71782874 single base substitution G A intron_variant SKCA-BR 18 71783982 71783982 single base substitution C T intron_variant SKCA-BR 18 71785732 71785732 single base substitution G A downstream_gene_variant SKCA-BR 18 71785732 71785732 single base substitution G A intron_variant SKCA-BR 18 71785912 71785912 single base substitution T A downstream_gene_variant SKCA-BR 18 71785912 71785912 single base substitution T A intron_variant SKCA-BR 18 71789911 71789911 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 71789911 71789911 single base substitution G A intron_variant SKCA-BR 18 71792859 71792859 single base substitution A T downstream_gene_variant SKCA-BR 18 71792859 71792859 single base substitution A T intron_variant SKCA-BR 18 71792859 71792859 single base substitution A T upstream_gene_variant SKCA-BR 18 71794539 71794539 single base substitution C T downstream_gene_variant SKCA-BR 18 71794539 71794539 single base substitution C T intron_variant SKCA-BR 18 71794539 71794539 single base substitution C T upstream_gene_variant SKCA-BR 18 71795569 71795569 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 18 71795569 71795569 insertion of <=200bp - CA intron_variant SKCA-BR 18 71795569 71795569 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 18 71798551 71798551 single base substitution C T intron_variant SKCA-BR 18 71798551 71798551 single base substitution C T upstream_gene_variant SKCA-BR 18 71799157 71799157 single base substitution G A intron_variant SKCA-BR 18 71799157 71799157 single base substitution G A upstream_gene_variant SKCA-BR 18 71799940 71799940 single base substitution G A intron_variant SKCA-BR 18 71799940 71799940 single base substitution G A upstream_gene_variant SKCA-BR 18 71800187 71800187 single base substitution C T intron_variant SKCA-BR 18 71800187 71800187 single base substitution C T upstream_gene_variant SKCA-BR 18 71800972 71800972 single base substitution A T intron_variant SKCA-BR 18 71800972 71800972 single base substitution A T upstream_gene_variant SKCA-BR 18 71801989 71801989 single base substitution C T intron_variant SKCA-BR 18 71801990 71801990 single base substitution A T intron_variant SKCA-BR 18 71802598 71802598 single base substitution C T intron_variant SKCA-BR 18 71805337 71805337 single base substitution G A intron_variant SKCA-BR 18 71805337 71805337 single base substitution G A upstream_gene_variant SKCA-BR 18 71805378 71805378 single base substitution C T intron_variant SKCA-BR 18 71805378 71805378 single base substitution C T upstream_gene_variant SKCA-BR 18 71807799 71807799 single base substitution A G intron_variant SKCA-BR 18 71807799 71807799 single base substitution A G upstream_gene_variant SKCA-BR 18 71807960 71807960 single base substitution C T intron_variant SKCA-BR 18 71807960 71807960 single base substitution C T splice_region_variant SKCA-BR 18 71807960 71807960 single base substitution C T upstream_gene_variant SKCA-BR 18 71809624 71809624 single base substitution C T intron_variant SKCA-BR 18 71811030 71811030 single base substitution A C intron_variant SKCA-BR 18 71815110 71815110 single base substitution A C upstream_gene_variant SKCA-BR 18 71815626 71815626 single base substitution G A upstream_gene_variant SKCA-BR 18 71815692 71815692 single base substitution C T upstream_gene_variant SKCA-BR 18 71816823 71816823 single base substitution G A upstream_gene_variant SKCA-BR 18 71816835 71816835 single base substitution C A upstream_gene_variant SKCA-BR 18 71817392 71817392 single base substitution G A upstream_gene_variant SKCA-BR 18 71817673 71817673 single base substitution C T upstream_gene_variant SKCA-BR 18 71820092 71820092 single base substitution T C upstream_gene_variant SKCM-US 18 71740773 71740773 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71740773 71740773 single base substitution C T exon_variant SKCM-US 18 71740773 71740773 single base substitution C T missense_variant E410K 1228G>A SKCM-US 18 71740773 71740773 single base substitution C T missense_variant E486K 1456G>A SKCM-US 18 71740870 71740870 single base substitution G C 3_prime_UTR_variant SKCM-US 18 71740870 71740870 single base substitution G C exon_variant SKCM-US 18 71740870 71740870 single base substitution G C missense_variant L101V 301C>G SKCM-US 18 71740870 71740870 single base substitution G C synonymous_variant P377P 1131C>G SKCM-US 18 71740870 71740870 single base substitution G C synonymous_variant P453P 1359C>G SKCM-US 18 71740883 71740883 single base substitution G A 3_prime_UTR_variant SKCM-US 18 71740883 71740883 single base substitution G A exon_variant SKCM-US 18 71740883 71740883 single base substitution G A missense_variant S373L 1118C>T SKCM-US 18 71740883 71740883 single base substitution G A missense_variant S449L 1346C>T SKCM-US 18 71740883 71740883 single base substitution G A synonymous_variant I96I 288C>T SKCM-US 18 71740886 71740886 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71740886 71740886 single base substitution C T exon_variant SKCM-US 18 71740886 71740886 single base substitution C T missense_variant R372K 1115G>A SKCM-US 18 71740886 71740886 single base substitution C T missense_variant R448K 1343G>A SKCM-US 18 71740886 71740886 single base substitution C T synonymous_variant E95E 285G>A SKCM-US 18 71740901 71740901 single base substitution G A 3_prime_UTR_variant SKCM-US 18 71740901 71740901 single base substitution G A exon_variant SKCM-US 18 71740901 71740901 single base substitution G A missense_variant S367F 1100C>T SKCM-US 18 71740901 71740901 single base substitution G A missense_variant S443F 1328C>T SKCM-US 18 71740901 71740901 single base substitution G A splice_region_variant SKCM-US 18 71740925 71740925 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71740925 71740925 single base substitution C T exon_variant SKCM-US 18 71740925 71740925 single base substitution C T intron_variant SKCM-US 18 71740925 71740925 single base substitution C T missense_variant G359E 1076G>A SKCM-US 18 71740925 71740925 single base substitution C T missense_variant G435E 1304G>A SKCM-US 18 71749176 71749176 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71749176 71749176 single base substitution C T exon_variant SKCM-US 18 71749176 71749176 single base substitution C T missense_variant D341N 1021G>A SKCM-US 18 71749176 71749176 single base substitution C T missense_variant D417N 1249G>A SKCM-US 18 71749176 71749176 single base substitution C T missense_variant D85N 253G>A SKCM-US 18 71749176 71749176 single base substitution C T upstream_gene_variant SKCM-US 18 71749192 71749192 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71749192 71749192 single base substitution C T exon_variant SKCM-US 18 71749192 71749192 single base substitution C T stop_gained W335* 1005G>A SKCM-US 18 71749192 71749192 single base substitution C T stop_gained W411* 1233G>A SKCM-US 18 71749192 71749192 single base substitution C T stop_gained W79* 237G>A SKCM-US 18 71749192 71749192 single base substitution C T upstream_gene_variant SKCM-US 18 71790672 71790672 single base substitution G A 3_prime_UTR_variant SKCM-US 18 71790672 71790672 single base substitution G A missense_variant H25Y 73C>T SKCM-US 18 71790672 71790672 single base substitution G A missense_variant H281Y 841C>T SKCM-US 18 71790672 71790672 single base substitution G A missense_variant H357Y 1069C>T SKCM-US 18 71790672 71790672 single base substitution G A missense_variant H96Y 286C>T SKCM-US 18 71790711 71790711 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71790711 71790711 single base substitution C T missense_variant D12N 34G>A SKCM-US 18 71790711 71790711 single base substitution C T missense_variant D268N 802G>A SKCM-US 18 71790711 71790711 single base substitution C T missense_variant D344N 1030G>A SKCM-US 18 71790711 71790711 single base substitution C T missense_variant D83N 247G>A SKCM-US 18 71791797 71791797 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71791797 71791797 single base substitution C T downstream_gene_variant SKCM-US 18 71791797 71791797 single base substitution C T missense_variant E232K 694G>A SKCM-US 18 71791797 71791797 single base substitution C T missense_variant E308K 922G>A SKCM-US 18 71791797 71791797 single base substitution C T missense_variant E47K 139G>A SKCM-US 18 71791797 71791797 single base substitution C T upstream_gene_variant SKCM-US 18 71796724 71796724 single base substitution G A 3_prime_UTR_variant SKCM-US 18 71796724 71796724 single base substitution G A downstream_gene_variant SKCM-US 18 71796724 71796724 single base substitution G A intron_variant SKCM-US 18 71796724 71796724 single base substitution G A missense_variant P158L 473C>T SKCM-US 18 71796724 71796724 single base substitution G A missense_variant P234L 701C>T SKCM-US 18 71796724 71796724 single base substitution G A upstream_gene_variant SKCM-US 18 71796734 71796734 single base substitution T C 3_prime_UTR_variant SKCM-US 18 71796734 71796734 single base substitution T C downstream_gene_variant SKCM-US 18 71796734 71796734 single base substitution T C intron_variant SKCM-US 18 71796734 71796734 single base substitution T C missense_variant K155E 463A>G SKCM-US 18 71796734 71796734 single base substitution T C missense_variant K231E 691A>G SKCM-US 18 71796734 71796734 single base substitution T C upstream_gene_variant SKCM-US 18 71796789 71796789 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71796789 71796789 single base substitution C T downstream_gene_variant SKCM-US 18 71796789 71796789 single base substitution C T intron_variant SKCM-US 18 71796789 71796789 single base substitution C T missense_variant M136I 408G>A SKCM-US 18 71796789 71796789 single base substitution C T missense_variant M212I 636G>A SKCM-US 18 71796789 71796789 single base substitution C T upstream_gene_variant SKCM-US 18 71797676 71797676 single base substitution G A 3_prime_UTR_variant SKCM-US 18 71797676 71797676 single base substitution G A downstream_gene_variant SKCM-US 18 71797676 71797676 single base substitution G A intron_variant SKCM-US 18 71797676 71797676 single base substitution G A missense_variant P108S 322C>T SKCM-US 18 71797676 71797676 single base substitution G A missense_variant P184S 550C>T SKCM-US 18 71797676 71797676 single base substitution G A upstream_gene_variant SKCM-US 18 71797839 71797839 single base substitution C T 3_prime_UTR_variant SKCM-US 18 71797839 71797839 single base substitution C T intron_variant SKCM-US 18 71797839 71797839 single base substitution C T stop_gained W129* 387G>A SKCM-US 18 71797839 71797839 single base substitution C T stop_gained W53* 159G>A SKCM-US 18 71797839 71797839 single base substitution C T stop_gained W92* 276G>A SKCM-US 18 71797839 71797839 single base substitution C T upstream_gene_variant SKCM-US 18 71797846 71797846 single base substitution G A 3_prime_UTR_variant SKCM-US 18 71797846 71797846 single base substitution G A intron_variant SKCM-US 18 71797846 71797846 single base substitution G A missense_variant S127L 380C>T SKCM-US 18 71797846 71797846 single base substitution G A missense_variant S51L 152C>T SKCM-US 18 71797846 71797846 single base substitution G A missense_variant S90L 269C>T SKCM-US 18 71797846 71797846 single base substitution G A upstream_gene_variant SKCM-US 18 71797881 71797881 single base substitution G A 3_prime_UTR_variant SKCM-US 18 71797881 71797881 single base substitution G A intron_variant SKCM-US 18 71797881 71797881 single base substitution G A synonymous_variant I115I 345C>T SKCM-US 18 71797881 71797881 single base substitution G A synonymous_variant I39I 117C>T SKCM-US 18 71797881 71797881 single base substitution G A synonymous_variant I78I 234C>T SKCM-US 18 71797881 71797881 single base substitution G A upstream_gene_variant SKCM-US 18 71816059 71816059 single base substitution C T upstream_gene_variant SKCM-US 18 71816127 71816127 single base substitution C T upstream_gene_variant SKCM-US 18 71816207 71816207 single base substitution G C upstream_gene_variant SKCM-US 18 71816215 71816215 single base substitution C T upstream_gene_variant STAD-US 18 71740785 71740785 single base substitution T A 3_prime_UTR_variant STAD-US 18 71740785 71740785 single base substitution T A exon_variant STAD-US 18 71740785 71740785 single base substitution T A missense_variant I406F 1216A>T STAD-US 18 71740785 71740785 single base substitution T A missense_variant I482F 1444A>T STAD-US 18 71740947 71740947 single base substitution C T 3_prime_UTR_variant STAD-US 18 71740947 71740947 single base substitution C T exon_variant STAD-US 18 71740947 71740947 single base substitution C T intron_variant STAD-US 18 71740947 71740947 single base substitution C T missense_variant V352I 1054G>A STAD-US 18 71740947 71740947 single base substitution C T missense_variant V428I 1282G>A STAD-US 18 71796740 71796740 single base substitution A G 3_prime_UTR_variant STAD-US 18 71796740 71796740 single base substitution A G downstream_gene_variant STAD-US 18 71796740 71796740 single base substitution A G intron_variant STAD-US 18 71796740 71796740 single base substitution A G missense_variant Y153H 457T>C STAD-US 18 71796740 71796740 single base substitution A G missense_variant Y229H 685T>C STAD-US 18 71796740 71796740 single base substitution A G upstream_gene_variant STAD-US 18 71796797 71796797 single base substitution A G 3_prime_UTR_variant STAD-US 18 71796797 71796797 single base substitution A G downstream_gene_variant STAD-US 18 71796797 71796797 single base substitution A G intron_variant STAD-US 18 71796797 71796797 single base substitution A G missense_variant Y134H 400T>C STAD-US 18 71796797 71796797 single base substitution A G missense_variant Y210H 628T>C STAD-US 18 71796797 71796797 single base substitution A G upstream_gene_variant STAD-US 18 71797672 71797672 single base substitution A C 3_prime_UTR_variant STAD-US 18 71797672 71797672 single base substitution A C downstream_gene_variant STAD-US 18 71797672 71797672 single base substitution A C intron_variant STAD-US 18 71797672 71797672 single base substitution A C missense_variant V109G 326T>G STAD-US 18 71797672 71797672 single base substitution A C missense_variant V185G 554T>G STAD-US 18 71797672 71797672 single base substitution A C upstream_gene_variant UCEC-US 18 71740862 71740862 single base substitution C T 3_prime_UTR_variant UCEC-US 18 71740862 71740862 single base substitution C T exon_variant UCEC-US 18 71740862 71740862 single base substitution C T missense_variant S380N 1139G>A UCEC-US 18 71740862 71740862 single base substitution C T missense_variant S456N 1367G>A UCEC-US 18 71740880 71740880 single base substitution G T 3_prime_UTR_variant UCEC-US 18 71740880 71740880 single base substitution G T exon_variant UCEC-US 18 71740880 71740880 single base substitution G T missense_variant P374H 1121C>A UCEC-US 18 71740880 71740880 single base substitution G T missense_variant P450H 1349C>A UCEC-US 18 71740880 71740880 single base substitution G T synonymous_variant A97A 291C>A UCEC-US 18 71793239 71793239 single base substitution G A 3_prime_UTR_variant UCEC-US 18 71793239 71793239 single base substitution G A downstream_gene_variant UCEC-US 18 71793239 71793239 single base substitution G A intron_variant UCEC-US 18 71793239 71793239 single base substitution G A missense_variant H219Y 655C>T UCEC-US 18 71793239 71793239 single base substitution G A missense_variant H295Y 883C>T UCEC-US 18 71793239 71793239 single base substitution G A missense_variant H34Y 100C>T UCEC-US 18 71793239 71793239 single base substitution G A upstream_gene_variant UCEC-US 18 71793310 71793310 single base substitution T A 3_prime_UTR_variant UCEC-US 18 71793310 71793310 single base substitution T A downstream_gene_variant UCEC-US 18 71793310 71793310 single base substitution T A intron_variant UCEC-US 18 71793310 71793310 single base substitution T A missense_variant K10M 29A>T UCEC-US 18 71793310 71793310 single base substitution T A missense_variant K195M 584A>T UCEC-US 18 71793310 71793310 single base substitution T A missense_variant K271M 812A>T UCEC-US 18 71793310 71793310 single base substitution T A upstream_gene_variant UCEC-US 18 71796800 71796800 single base substitution C A 3_prime_UTR_variant UCEC-US 18 71796800 71796800 single base substitution C A downstream_gene_variant UCEC-US 18 71796800 71796800 single base substitution C A intron_variant UCEC-US 18 71796800 71796800 single base substitution C A stop_gained E133* 397G>T UCEC-US 18 71796800 71796800 single base substitution C A stop_gained E209* 625G>T UCEC-US 18 71796800 71796800 single base substitution C A upstream_gene_variant UCEC-US 18 71796803 71796803 single base substitution T G 3_prime_UTR_variant UCEC-US 18 71796803 71796803 single base substitution T G downstream_gene_variant UCEC-US 18 71796803 71796803 single base substitution T G intron_variant UCEC-US 18 71796803 71796803 single base substitution T G missense_variant K132Q 394A>C UCEC-US 18 71796803 71796803 single base substitution T G missense_variant K208Q 622A>C UCEC-US 18 71796803 71796803 single base substitution T G upstream_gene_variant UCEC-US 18 71797761 71797761 single base substitution C A 3_prime_UTR_variant UCEC-US 18 71797761 71797761 single base substitution C A downstream_gene_variant UCEC-US 18 71797761 71797761 single base substitution C A intron_variant UCEC-US 18 71797761 71797761 single base substitution C A missense_variant K118N 354G>T UCEC-US 18 71797761 71797761 single base substitution C A missense_variant K155N 465G>T UCEC-US 18 71797761 71797761 single base substitution C A missense_variant K79N 237G>T UCEC-US 18 71797761 71797761 single base substitution C A upstream_gene_variant UCEC-US 18 71797778 71797778 single base substitution C A 3_prime_UTR_variant UCEC-US 18 71797778 71797778 single base substitution C A downstream_gene_variant UCEC-US 18 71797778 71797778 single base substitution C A intron_variant UCEC-US 18 71797778 71797778 single base substitution C A stop_gained E113* 337G>T UCEC-US 18 71797778 71797778 single base substitution C A stop_gained E150* 448G>T UCEC-US 18 71797778 71797778 single base substitution C A stop_gained E74* 220G>T UCEC-US 18 71797778 71797778 single base substitution C A upstream_gene_variant UCEC-US 18 71803101 71803101 single base substitution T G 5_prime_UTR_variant UCEC-US 18 71803101 71803101 single base substitution T G missense_variant R39S 117A>C UCEC-US 18 71803101 71803101 single base substitution T G splice_region_variant UCEC-US 18 71807496 71807496 single base substitution A G 3_prime_UTR_variant UCEC-US 18 71807496 71807496 single base substitution A G 5_prime_UTR_variant UCEC-US 18 71807496 71807496 single base substitution A G intron_variant UCEC-US 18 71807496 71807496 single base substitution A G synonymous_variant H56H 168T>C UCEC-US 18 71807496 71807496 single base substitution A G upstream_gene_variant UCEC-US 18 71816059 71816059 single base substitution C A upstream_gene_variant UCEC-US 18 71816097 71816097 single base substitution C T upstream_gene_variant UCEC-US 18 71816215 71816215 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-06-6388-01 COSM3403644 c.949C>G p.H317D Substitution - Missense 18:74124535-74124535 - TCGA-GN-A26C-01 COSM3527512 c.387G>A p.W129* Substitution - Nonsense 18:74130604-74130604 - TCGA-AP-A056-01 COSM989849 c.1139G>A p.S380N Substitution - Missense 18:74073627-74073627 - TCGA-EE-A2MU-06 COSM1389685 c.117C>T p.I39I Substitution - coding silent 18:74130646-74130646 - TCGA-37-5819-01 COSM1148029 c.1318T>G p.C440G Substitution - Missense 18:74073676-74073676 - sysucc-311T COSM1589607 c.625G>T p.E209* Substitution - Nonsense 18:74129565-74129565 - TCGA-WL-A834-01 COSM4830609 c.986C>T p.S329L Substitution - Missense 18:74124498-74124498 - TCGA-A2-A1FZ-01 COSM1480459 c.128C>G p.S43* Substitution - Nonsense 18:74130635-74130635 - TCGA-E2-A159-01 COSM3821714 c.1482C>T p.V494V Substitution - coding silent 18:74073512-74073512 - PS-286-4D COSM4423775 c.1053C>A p.D351E Substitution - Missense 18:74073713-74073713 - TCGA-F5-6814-01 COSM3422311 c.382G>T p.E128* Substitution - Nonsense 18:74129580-74129580 - TCGA-DD-A4NR-01 COSM4941188 c.1241A>T p.D414V Substitution - Missense 18:74081949-74081949 - CLL118 COSM1290851 c.1001C>T p.S334L Substitution - Missense 18:74081961-74081961 - TCGA-GN-A26C-01 COSM3527513 c.159G>A p.W53* Substitution - Nonsense 18:74130604-74130604 - BK0022 COSM4186359 c.1294G>A p.D432N Substitution - Missense 18:74073700-74073700 - T3535 COSM4683922 c.696delA p.K232fs*5 Deletion - Frameshift 18:74129494-74129494 - TCGA-FW-A3R5-06 COSM3891319 c.636G>A p.M212I Substitution - Missense 18:74129554-74129554 - I2L-P19Ta-Tumor-Organoid COSM1252255 c.890G>A p.R297H Substitution - Missense 18:74123388-74123388 - TCGA-B5-A0JY-01 COSM989852 c.655C>T p.H219Y Substitution - Missense 18:74126004-74126004 - CSCC-45-T COSM4512138 c.664C>T p.L222F Substitution - Missense 18:74125995-74125995 - TCGA-06-6388-01 COSM3403645 c.721C>G p.H241D Substitution - Missense 18:74124535-74124535 - HT115 COSM3146164 c.1183A>C p.K395Q Substitution - Missense 18:74082007-74082007 - TCGA-D8-A1XW-01 COSM1480456 c.1473C>G p.V491V Substitution - coding silent 18:74073521-74073521 - 388 COSM4427430 c.1489C>G p.L497V Substitution - Missense 18:74073505-74073505 - TCGA-G4-6298-01 COSM3692185 c.43G>T p.G15C Substitution - Missense 18:74147743-74147743 - TCGA-EE-A2MU-06 COSM1389684 c.345C>T p.I115I Substitution - coding silent 18:74130646-74130646 - TCGA-EE-A181-06 COSM3146156 c.1456G>A p.E486K Substitution - Missense 18:74073538-74073538 - TCGA-D8-A1XW-01 COSM1480457 c.1245C>G p.V415V Substitution - coding silent 18:74073521-74073521 - PS-286-5D COSM4423775 c.1053C>A p.D351E Substitution - Missense 18:74073713-74073713 - TCGA-AG-3894-01 COSM288817 c.1103C>T p.P368L Substitution - Missense 18:74073663-74073663 - CH-109-T2 COSM5650678 c.1024G>T p.G342C Substitution - Missense 18:74081938-74081938 - CSCC-27-T COSM3146148 c.1497C>T p.I499I Substitution - coding silent 18:74073497-74073497 - TCGA-AP-A0LM-01 COSM989857 c.237G>T p.K79N Substitution - Missense 18:74130526-74130526 - TCGA-BP-4166-01 COSM3362591 c.1072G>T p.V358F Substitution - Missense 18:74123434-74123434 - S00356 COSM5701023 c.85_86insG p.A29fs*82 Insertion - Frameshift 18:74147700-74147701 - TCGA-FW-A3R5-06 COSM3891315 c.1359C>G p.P453P Substitution - coding silent 18:74073635-74073635 - TCGA-AP-A056-01 COSM1589610 c.1367G>A p.S456N Substitution - Missense 18:74073627-74073627 - AOCS-001-1-7 COSM4140165 c.684+7C>A p.? Unknown 18:74125968-74125968 - TCGA-CA-6718-01 COSM1389681 c.908G>T p.R303I Substitution - Missense 18:74123370-74123370 - ESO-R61 COSM1252257 c.828C>T p.H276H Substitution - coding silent 18:74123450-74123450 - 49M COSM5590956 c.170C>T p.S57L Substitution - Missense 18:74130593-74130593 - LUAD-RT-S01808 COSM382690 c.294C>T p.L98L Substitution - coding silent 18:74130469-74130469 - TCGA-D1-A177-01 COSM989850 c.1121C>A p.P374H Substitution - Missense 18:74073645-74073645 - TCGA-37-5819-01 COSM708957 c.1090T>G p.C364G Substitution - Missense 18:74073676-74073676 - Pat_28_B COSM5854445 c.605C>T p.T202I Substitution - Missense 18:74126054-74126054 - TCGA-EI-6917-01 COSM3422308 c.1297G>T p.E433* Substitution - Nonsense 18:74073697-74073697 - TCGA-FR-A44A-06 COSM3146160 c.1346C>T p.S449L Substitution - Missense 18:74073648-74073648 - TCGA-60-2698-01 COSM708954 c.358T>C p.L120L Substitution - coding silent 18:74129604-74129604 - C086 COSM3146161 c.1118C>T p.S373L Substitution - Missense 18:74073648-74073648 - ESO-610 COSM1252254 c.1118G>A p.R373H Substitution - Missense 18:74123388-74123388 - TCGA-FW-A3R5-06 COSM3891316 c.1131C>G p.P377P Substitution - coding silent 18:74073635-74073635 - TCGA-AX-A05Z-01 COSM989856 c.394A>C p.K132Q Substitution - Missense 18:74129568-74129568 - SNU-C2B COSM3146178 c.442G>A p.D148N Substitution - Missense 18:74130549-74130549 - ME001T COSM221841 c.114G>A p.W38* Substitution - Nonsense 18:74130649-74130649 - CSCC-40-T COSM4451827 c.1427A>T p.H476L Substitution - Missense 18:74073567-74073567 - YUGEMA COSM5388425 c.1154G>A p.G385E Substitution - Missense 18:74073612-74073612 - TCGA-HJ-7597-01 COSM4073201 c.1282G>A p.V428I Substitution - Missense 18:74073712-74073712 - TCGA-EE-A2MD-06 COSM3146157 c.1228G>A p.E410K Substitution - Missense 18:74073538-74073538 - SNUH_G26_S1 COSM4000466 c.474T>C p.Y158Y Substitution - coding silent 18:74130517-74130517 - BK0022 COSM4186360 c.1066G>A p.D356N Substitution - Missense 18:74073700-74073700 - LP6008051-DNA_A02 COSM1252255 c.890G>A p.R297H Substitution - Missense 18:74123388-74123388 - PT28 COSM5943119 c.1263+8_1263+9insA p.? Unknown 18:74081918-74081919 - TCGA-GN-A266-06 COSM3146161 c.1118C>T p.S373L Substitution - Missense 18:74073648-74073648 - TCGA-WL-A834-01 COSM336542 c.758C>T p.S253L Substitution - Missense 18:74124498-74124498 - TCGA-A2-A1FZ-01 COSM1480458 c.356C>G p.S119* Substitution - Nonsense 18:74130635-74130635 - SNU-C2B COSM3146179 c.214G>A p.D72N Substitution - Missense 18:74130549-74130549 - TCGA-BH-A0HA-01 COSM438373 c.221T>C p.L74P Substitution - Missense 18:74140208-74140208 - PS-286-4D COSM4423774 c.1281C>A p.D427E Substitution - Missense 18:74073713-74073713 - TCGA-E2-A159-01 COSM3821715 c.1254C>T p.V418V Substitution - coding silent 18:74073512-74073512 - ACINAR11 COSM1735235 c.851G>A p.G284D Substitution - Missense 18:74126036-74126036 - LIM2551 COSM288817 c.1103C>T p.P368L Substitution - Missense 18:74073663-74073663 - TCGA-39-5031-01 COSM708955 c.572C>G p.S191C Substitution - Missense 18:74126087-74126087 - TCGA-AP-A0LM-01 COSM1589605 c.465G>T p.K155N Substitution - Missense 18:74130526-74130526 - N097T COSM236105 c.424T>C p.S142P Substitution - Missense 18:74129538-74129538 - TCGA-21-5787-01 COSM1148027 c.1519G>T p.G507W Substitution - Missense 18:74073475-74073475 - 0045_CRUK_PC_0045_T1_DNA COSM5422144 c.571C>G p.L191V Substitution - Missense 18:74130420-74130420 - TCGA-25-2398-01 COSM79851 c.1209G>T p.L403L Substitution - coding silent 18:74073557-74073557 - 587382 COSM1206796 c.208T>C p.C70R Substitution - Missense 18:74140221-74140221 - SC_9093 COSM5551131 c.1268G>T p.C423F Substitution - Missense 18:74073726-74073726 - TCGA-EE-A2GR-06 COSM3527503 c.1115G>A p.R372K Substitution - Missense 18:74073651-74073651 - TCGA-CM-4746-01 COSM1389685 c.117C>T p.I39I Substitution - coding silent 18:74130646-74130646 - TCGA-FR-A44A-06 COSM3146161 c.1118C>T p.S373L Substitution - Missense 18:74073648-74073648 - TCGA-D1-A17F-01 COSM989851 c.690G>A p.E230E Substitution - coding silent 18:74124566-74124566 - 35M COSM5581058 c.134A>G p.K45R Substitution - Missense 18:74140295-74140295 - TCGA-D3-A2JP-06 COSM3527506 c.1249G>A p.D417N Substitution - Missense 18:74081941-74081941 - TCGA-BF-A1PU-01 COSM4399733 c.1233G>A p.W411* Substitution - Nonsense 18:74081957-74081957 - 10-104 COSM3736627 c.634A>T p.M212L Substitution - Missense 18:74129556-74129556 - 49M COSM5590955 c.398C>T p.S133L Substitution - Missense 18:74130593-74130593 - T3202 COSM4683920 c.1281C>T p.D427D Substitution - coding silent 18:74073713-74073713 - YUKAT COSM3146161 c.1118C>T p.S373L Substitution - Missense 18:74073648-74073648 - TCGA-AA-3663-01 COSM1389678 c.1248delT p.F416fs*5 Deletion - Frameshift 18:74081942-74081942 - MHH-CALL-2 COSM1579616 c.1258T>C p.Y420H Substitution - Missense 18:74073508-74073508 - AOCS-001-1-7 COSM4140164 c.912+7C>A p.? Unknown 18:74125968-74125968 - TCGA-CD-A4MJ-01 COSM4073203 c.457T>C p.Y153H Substitution - Missense 18:74129505-74129505 - TCGA-DD-A4NR-01 COSM4941189 c.1013A>T p.D338V Substitution - Missense 18:74081949-74081949 - 2318492 COSM1564001 c.1117C>T p.R373C Substitution - Missense 18:74123389-74123389 - C086 COSM3146160 c.1346C>T p.S449L Substitution - Missense 18:74073648-74073648 - TCGA-DI-A0WH-01 COSM1153266 c.763T>C p.Y255H Substitution - Missense 18:74129427-74129427 - TCGA-GN-A266-06 COSM3146160 c.1346C>T p.S449L Substitution - Missense 18:74073648-74073648 - TCGA-32-4719 COSM2157430 c.1118_1119delCG p.P374fs*5 Deletion - Frameshift 18:74073647-74073648 - TCGA-F5-6814-01 COSM3422310 c.610G>T p.E204* Substitution - Nonsense 18:74129580-74129580 - 0045_CRUK_PC_0045_T1_DNA COSM5422145 c.343C>G p.L115V Substitution - Missense 18:74130420-74130420 - TCGA-MY-A5BD-01 COSM4855594 c.876C>T p.F292F Substitution - coding silent 18:74126011-74126011 - TCGA-21-5787-01 COSM708959 c.1291G>T p.G431W Substitution - Missense 18:74073475-74073475 - MHH-CALL-2 COSM1579615 c.1486T>C p.Y496H Substitution - Missense 18:74073508-74073508 - HT115 COSM3146165 c.955A>C p.K319Q Substitution - Missense 18:74082007-74082007 - 2171682 COSM4423579 c.1501A>G p.K501E Substitution - Missense 18:74073493-74073493 - TCGA-BS-A0UV-01 COSM989855 c.397G>T p.E133* Substitution - Nonsense 18:74129565-74129565 - TCGA-D3-A2JP-06 COSM3527507 c.1021G>A p.D341N Substitution - Missense 18:74081941-74081941 - 2171682 COSM4423580 c.1273A>G p.K425E Substitution - Missense 18:74073493-74073493 - TCGA-HC-7209-01 COSM1252257 c.828C>T p.H276H Substitution - coding silent 18:74123450-74123450 - LP6008051-DNA_A02 COSM1252254 c.1118G>A p.R373H Substitution - Missense 18:74123388-74123388 - LIM2551 COSM4644152 c.1331C>T p.P444L Substitution - Missense 18:74073663-74073663 - TCGA-AX-A05Z-01 COSM1589606 c.622A>C p.K208Q Substitution - Missense 18:74129568-74129568 - TCGA-39-5031-01 COSM1148031 c.800C>G p.S267C Substitution - Missense 18:74126087-74126087 - TCGA-66-2786-01 COSM1148033 c.462G>T p.W154C Substitution - Missense 18:74130529-74130529 - TCGA-EE-A3JD-06 COSM4395876 c.1100C>T p.S367F Substitution - Missense 18:74073666-74073666 - TCGA-D9-A6EC-06 COSM4402008 c.691A>G p.K231E Substitution - Missense 18:74129499-74129499 - TCGA-AN-A046-01 COSM1252254 c.1118G>A p.R373H Substitution - Missense 18:74123388-74123388 - TCGA-FW-A3R5-06 COSM3891318 c.473C>T p.P158L Substitution - Missense 18:74129489-74129489 - TCGA-B5-A0JY-01 COSM1589608 c.812A>T p.K271M Substitution - Missense 18:74126075-74126075 - TCGA-EK-A3GK-01 COSM4854399 c.1098C>T p.F366F Substitution - coding silent 18:74123408-74123408 - TCGA-AA-3492-01 COSM1389683 c.796T>C p.F266L Substitution - Missense 18:74123482-74123482 - PT40 COSM708956 c.685-3C>T p.? Unknown 18:74124574-74124574 - CH-109-T2 COSM5650677 c.1252G>T p.G418C Substitution - Missense 18:74081938-74081938 - sysucc-311T COSM989855 c.397G>T p.E133* Substitution - Nonsense 18:74129565-74129565 - TCGA-FR-A3YO-06 COSM3527504 c.1304G>A p.G435E Substitution - Missense 18:74073690-74073690 - TCGA-FW-A3R5-06 COSM3146160 c.1346C>T p.S449L Substitution - Missense 18:74073648-74073648 - TCGA-32-4719 COSM2157429 c.1346_1347delCG p.P450fs*5 Deletion - Frameshift 18:74073647-74073648 - TCGA-EK-A3GK-01 COSM4854400 c.870C>T p.F290F Substitution - coding silent 18:74123408-74123408 - PD18101a COSM5783805 c.479T>C p.L160P Substitution - Missense 18:74129483-74129483 - TCGA-CM-4746-01 COSM1389684 c.345C>T p.I115I Substitution - coding silent 18:74130646-74130646 - TCGA-66-2786-01 COSM708953 c.234G>T p.W78C Substitution - Missense 18:74130529-74130529 - T3094 COSM4683923 c.468delA p.K156fs*5 Deletion - Frameshift 18:74129494-74129494 - ESO-R61 COSM1252256 c.1056C>T p.H352H Substitution - coding silent 18:74123450-74123450 - T3094 COSM4683922 c.696delA p.K232fs*5 Deletion - Frameshift 18:74129494-74129494 - TCGA-BP-4166-01 COSM3362592 c.844G>T p.V282F Substitution - Missense 18:74123434-74123434 - 8067211 COSM3772465 c.1377C>A p.F459L Substitution - Missense 18:74073617-74073617 - ME009T COSM223957 c.785C>T p.P262L Substitution - Missense 18:74123493-74123493 - PD11370a COSM5776323 c.692A>G p.K231R Substitution - Missense 18:74129498-74129498 - PS-286-3D COSM4423775 c.1053C>A p.D351E Substitution - Missense 18:74073713-74073713 - 388 COSM4427431 c.1261C>G p.L421V Substitution - Missense 18:74073505-74073505 - PT55 COSM5942776 c.862G>A p.G288R Substitution - Missense 18:74123416-74123416 - C004 COSM4395876 c.1100C>T p.S367F Substitution - Missense 18:74073666-74073666 - PS-286-5D COSM4423774 c.1281C>A p.D427E Substitution - Missense 18:74073713-74073713 - TCGA-BF-A1PU-01 COSM4399734 c.1005G>A p.W335* Substitution - Nonsense 18:74081957-74081957 - Pat_28_B COSM5854444 c.833C>T p.T278I Substitution - Missense 18:74126054-74126054 - TCGA-BR-8363-01 COSM4073205 c.400T>C p.Y134H Substitution - Missense 18:74129562-74129562 - TARGET-30-PASYPX COSM1284929 c.702A>T p.P234P Substitution - coding silent 18:74129488-74129488 - Pa03C COSM84447 c.1026C>A p.G342G Substitution - coding silent 18:74081936-74081936 - LUAD-NYU1096 COSM369163 c.80G>A p.R27H Substitution - Missense 18:74135786-74135786 - TCGA-HU-A4GH-01 COSM4073207 c.326T>G p.V109G Substitution - Missense 18:74130437-74130437 - TCGA-RP-A693-06 COSM4895946 c.694G>A p.E232K Substitution - Missense 18:74124562-74124562 - 116 COSM1741457 c.1243A>C p.I415L Substitution - Missense 18:74081947-74081947 - PT40 COSM1148030 c.913-3C>T p.? Unknown 18:74124574-74124574 - CLL118 COSM1290850 c.1229C>T p.S410L Substitution - Missense 18:74081961-74081961 - SNUH_G26_S1 COSM4000467 c.246T>C p.Y82Y Substitution - coding silent 18:74130517-74130517 - TCGA-FR-A3YO-06 COSM3527505 c.1076G>A p.G359E Substitution - Missense 18:74073690-74073690 - 2318492 COSM1564002 c.889C>T p.R297C Substitution - Missense 18:74123389-74123389 - TCGA-GC-A3OO-01 COSM3796509 c.322C>T p.P108S Substitution - Missense 18:74130441-74130441 - I2L-P19Ta-Tumor-Biopsy COSM1252255 c.890G>A p.R297H Substitution - Missense 18:74123388-74123388 - TCGA-EE-A181-06 COSM3146157 c.1228G>A p.E410K Substitution - Missense 18:74073538-74073538 - C004 COSM4395875 c.1328C>T p.S443F Substitution - Missense 18:74073666-74073666 - TCGA-D1-A17A-01 COSM1153267 c.168T>C p.H56H Substitution - coding silent 18:74140261-74140261 - PT55 COSM5942775 c.1090G>A p.G364R Substitution - Missense 18:74123416-74123416 - TCGA-24-1422-01 COSM70751 c.611C>G p.S204C Substitution - Missense 18:74126048-74126048 - TCGA-B0-4816-01 COSM474033 c.1024G>A p.G342S Substitution - Missense 18:74081938-74081938 - TCGA-HJ-7597-01 COSM169691 c.1054G>A p.V352I Substitution - Missense 18:74073712-74073712 - I2L-P19Ta-Tumor-Organoid COSM1252254 c.1118G>A p.R373H Substitution - Missense 18:74123388-74123388 - TCGA-BR-8363-01 COSM4073204 c.628T>C p.Y210H Substitution - Missense 18:74129562-74129562 - TCGA-RP-A693-06 COSM4895945 c.922G>A p.E308K Substitution - Missense 18:74124562-74124562 - 1320T COSM5762769 c.1278C>A p.I426I Substitution - coding silent 18:74073488-74073488 - TCGA-D3-A2JF-06 COSM3527515 c.152C>T p.S51L Substitution - Missense 18:74130611-74130611 - HN_62506 COSM123119 c.584A>C p.K195T Substitution - Missense 18:74126075-74126075 - sysucc-880T COSM5462775 c.850C>T p.L284L Substitution - coding silent 18:74123428-74123428 - TCGA-FW-A3R5-06 COSM3891320 c.408G>A p.M136I Substitution - Missense 18:74129554-74129554 - TCGA-EE-A3AA-06 COSM3527509 c.841C>T p.H281Y Substitution - Missense 18:74123437-74123437 - TCGA-GC-A3OO-01 COSM3796508 c.550C>T p.P184S Substitution - Missense 18:74130441-74130441 - TCGA-AJ-A23M-01 COSM1589603 c.228A>C p.G76G Substitution - coding silent 18:74135866-74135866 - CSCC-45-T COSM4512137 c.892C>T p.L298F Substitution - Missense 18:74125995-74125995 - TCGA-HC-7209-01 COSM1252256 c.1056C>T p.H352H Substitution - coding silent 18:74123450-74123450 - I2L-P19Ta-Tumor-Biopsy COSM1252254 c.1118G>A p.R373H Substitution - Missense 18:74123388-74123388 - TARGET-30-PASYPX COSM1284930 c.474A>T p.P158P Substitution - coding silent 18:74129488-74129488 - YUGEMA COSM5388424 c.1382G>A p.G461E Substitution - Missense 18:74073612-74073612 - TCGA-CA-6718-01 COSM1389680 c.1136G>T p.R379I Substitution - Missense 18:74123370-74123370 - TCGA-BS-A0UV-01 COSM1589607 c.625G>T p.E209* Substitution - Nonsense 18:74129565-74129565 - TCGA-AA-3492-01 COSM1389682 c.1024T>C p.F342L Substitution - Missense 18:74123482-74123482 - 8067211 COSM3772466 c.1149C>A p.F383L Substitution - Missense 18:74073617-74073617 - TCGA-B5-A0JY-01 COSM989853 c.584A>T p.K195M Substitution - Missense 18:74126075-74126075 - TCGA-CD-A4MJ-01 COSM4073202 c.685T>C p.Y229H Substitution - Missense 18:74129505-74129505 - TCGA-A5-A0GP-01 COSM1589604 c.448G>T p.E150* Substitution - Nonsense 18:74130543-74130543 - PS-286-3D COSM4423774 c.1281C>A p.D427E Substitution - Missense 18:74073713-74073713 - ESO-610 COSM1252255 c.890G>A p.R297H Substitution - Missense 18:74123388-74123388 - TCGA-85-6561-01 COSM708958 c.1237C>A p.L413I Substitution - Missense 18:74073529-74073529 - TCGA-D9-A6EC-06 COSM4402009 c.463A>G p.K155E Substitution - Missense 18:74129499-74129499 - TCGA-FW-A3R5-06 COSM3796509 c.322C>T p.P108S Substitution - Missense 18:74130441-74130441 - YUKAT COSM3146160 c.1346C>T p.S449L Substitution - Missense 18:74073648-74073648 - TCGA-HU-A4GH-01 COSM4073206 c.554T>G p.V185G Substitution - Missense 18:74130437-74130437 - TCGA-EB-A41A-01 COSM3146161 c.1118C>T p.S373L Substitution - Missense 18:74073648-74073648 - CSCC-27-T COSM3146149 c.1269C>T p.I423I Substitution - coding silent 18:74073497-74073497 - 10-104 COSM3736628 c.406A>T p.M136L Substitution - Missense 18:74129556-74129556 - TCGA-AN-A046-01 COSM1252255 c.890G>A p.R297H Substitution - Missense 18:74123388-74123388 - ACINAR11 COSM1735236 c.623G>A p.G208D Substitution - Missense 18:74126036-74126036 - TCGA-EE-A2GR-06 COSM3527502 c.1343G>A p.R448K Substitution - Missense 18:74073651-74073651 - CSCC-40-T COSM4451828 c.1199A>T p.H400L Substitution - Missense 18:74073567-74073567 - PD11370a COSM5776324 c.464A>G p.K155R Substitution - Missense 18:74129498-74129498 - TCGA-FW-A3R5-06 COSM3146161 c.1118C>T p.S373L Substitution - Missense 18:74073648-74073648 - TCGA-BR-7707-01 COSM4073200 c.1216A>T p.I406F Substitution - Missense 18:74073550-74073550 - TCGA-D1-A17F-01 COSM1153265 c.918G>A p.E306E Substitution - coding silent 18:74124566-74124566 - TCGA-B0-4816-01 COSM1136075 c.1252G>A p.G418S Substitution - Missense 18:74081938-74081938 - HN_62481 COSM127978 c.813C>T p.P271P Substitution - coding silent 18:74123465-74123465 - TCGA-D1-A177-01 COSM1153264 c.1349C>A p.P450H Substitution - Missense 18:74073645-74073645 - sysucc-880T COSM5462774 c.1078C>T p.L360L Substitution - coding silent 18:74123428-74123428 - T3535 COSM4683923 c.468delA p.K156fs*5 Deletion - Frameshift 18:74129494-74129494 - 1320T COSM5762768 c.1506C>A p.I502I Substitution - coding silent 18:74073488-74073488 - LUAD-B02594 COSM336542 c.758C>T p.S253L Substitution - Missense 18:74124498-74124498 - TCGA-EE-A3AA-06 COSM3527508 c.1069C>T p.H357Y Substitution - Missense 18:74123437-74123437 - T3202 COSM4683921 c.1053C>T p.D351D Substitution - coding silent 18:74073713-74073713 - TCGA-DI-A0WH-01 COSM989854 c.535T>C p.Y179H Substitution - Missense 18:74129427-74129427 - TCGA-FW-A3R5-06 COSM3891317 c.701C>T p.P234L Substitution - Missense 18:74129489-74129489 - TCGA-EI-6917-01 COSM3422309 c.1069G>T p.E357* Substitution - Nonsense 18:74073697-74073697 - TCGA-BR-7707-01 COSM4073199 c.1444A>T p.I482F Substitution - Missense 18:74073550-74073550 - TCGA-A5-A0GP-01 COSM989858 c.220G>T p.E74* Substitution - Nonsense 18:74130543-74130543 - TCGA-FW-A3R5-06 COSM3796508 c.550C>T p.P184S Substitution - Missense 18:74130441-74130441 - TCGA-AA-A010-01 COSM281088 c.910+3G>T p.? Unknown 18:74123365-74123365 - TCGA-D3-A3MR-06 COSM3527511 c.802G>A p.D268N Substitution - Missense 18:74123476-74123476 - TCGA-MY-A5BD-01 COSM4855595 c.648C>T p.F216F Substitution - coding silent 18:74126011-74126011 - TCGA-EE-A3JD-06 COSM4395875 c.1328C>T p.S443F Substitution - Missense 18:74073666-74073666 - PD18101a COSM5783804 c.707T>C p.L236P Substitution - Missense 18:74129483-74129483 - TCGA-60-2698-01 COSM1148032 c.586T>C p.L196L Substitution - coding silent 18:74129604-74129604 - SC_9093 COSM5551132 c.1040G>T p.C347F Substitution - Missense 18:74073726-74073726 - TCGA-85-6561-01 COSM1148028 c.1465C>A p.L489I Substitution - Missense 18:74073529-74073529 - LUAD-LIP77 COSM342260 c.860G>T p.G287V Substitution - Missense 18:74123418-74123418 - 116 COSM1741458 c.1015A>C p.I339L Substitution - Missense 18:74081947-74081947 - TCGA-D3-A3MR-06 COSM3527510 c.1030G>A p.D344N Substitution - Missense 18:74123476-74123476 - TCGA-EB-A41A-01 COSM3146160 c.1346C>T p.S449L Substitution - Missense 18:74073648-74073648 - S00941 COSM5701023 c.85_86insG p.A29fs*82 Insertion - Frameshift 18:74147700-74147701 - TCGA-AA-3663-01 COSM1389679 c.1020delT p.F340fs*5 Deletion - Frameshift 18:74081942-74081942 - TCGA-B5-A0JY-01 COSM1589609 c.883C>T p.H295Y Substitution - Missense 18:74126004-74126004 - TCGA-D3-A2JF-06 COSM3527514 c.380C>T p.S127L Substitution - Missense 18:74130611-74130611 - PT28 COSM5943120 c.1035+8_1035+9insA p.? Unknown 18:74081918-74081919 - TCGA-EE-A2MD-06 COSM3146156 c.1456G>A p.E486K Substitution - Missense 18:74073538-74073538 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.663951;Hs.663952;Hs.663953;Hs.663954;Hs.663956;Hs.663957;Hs.663958;Hs.663959;Hs.663960;Hs.663962;Hs.663963;Hs.663965;Hs.663966;Hs.663967;Hs.663968;Hs.663969;Hs.663970;Hs.663971;Hs.663973;Hs.663974;Hs.663977;Hs.663978;Hs.663979;Hs.663980;Hs.663981;Hs.663982;Hs.663983;Hs.663984;Hs.663985;Hs.663986;Hs.663988;Hs.663989;Hs.663990;Hs.663991;Hs.663992;Hs.663993;Hs.663994;Hs.663995;Hs.663996;Hs.663997;Hs.663998;Hs.663999;Hs.664002;Hs.664004;Hs.664006;Hs.664007;Hs.664008;Hs.664009;Hs.664010;Hs.664011 18q22.3 609093

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C440G c.1318T>G 18 71740911 LUSC A G Missense p.S443P c.1327T>C 18 71740902 COREAD A G Synonymous p.H56H c.168T>C 18 71807496 UCEC A G Synonymous p.Y210Y c.630T>C 18 71796795 STAD C A Missense p.G353C c.1057G>T 18 71790684 STAD C A Missense p.G507W c.1519G>T 18 71740710 LUSC C A Missense p.V358F c.1072G>T 18 71790669 RCCC C A Missense p.W154C c.462G>T 18 71797764 LUSC C A Nonsense p.E150* c.448G>T 18 71797778 UCEC C A Synonymous p.G418G c.1254C>A 18 71749171 PAAD C A Synonymous p.L479L c.1437G>T 18 71740792 OV C T Missense p.A169T c.505G>A 18 71797721 HNSC C T Missense p.D344N c.1030G>A 18 71790711 CM C T Missense p.D417N c.1249G>A 18 71749176 CM C T Missense p.E486K c.1456G>A 18 71740773 CM C T Missense p.R373H c.1118G>A 18 71790623 ESCA C T Missense p.R448K c.1343G>A 18 71740886 CM C T Nonsense p.W129* c.387G>A 18 71797839 CM C T Nonsense p.W129* c.387G>A 18 71797839 HNSC C T Nonsense p.W411* c.1233G>A 18 71749192 CM C T Synonymous p.E135E c.405G>A 18 71797821 LUAD G A Missense p.H357Y c.1069C>T 18 71790672 CM G A Missense p.P176L c.527C>T 18 71797699 CM G A Missense p.P338L c.1013C>T 18 71790728 CM G A Missense p.P444L c.1331C>T 18 71740898 COREAD G A Missense p.S127L c.380C>T 18 71797846 CM G A Missense p.S410L c.1229C>T 18 71749196 CLL G A Missense p.S443F c.1328C>T 18 71740901 CM G A Synonymous p.H352H c.1056C>T 18 71790685 GBM G A Synonymous p.H352H c.1056C>T 18 71790685 PRAD G A Synonymous p.I115I c.345C>T 18 71797881 CM G A Synonymous p.I499I c.1497C>T 18 71740732 LUAD G A Synonymous p.P347P c.1041C>T 18 71790700 HNSC G C Missense p.H317D c.949C>G 18 71791770 GBM G C Missense p.S267C c.800C>G 18 71793322 LUSC G C Missense p.S280C c.839C>G 18 71793283 OV G C Nonsense p.S119* c.356C>G 18 71797870 BRCA G C Synonymous p.V491V c.1473C>G 18 71740756 BRCA - G IntronicInsertion . c.1263+3331dupC 18 71745831 STAD G T Missense p.L489I c.1465C>A 18 71740764 LUSC G T Missense p.P450H c.1349C>A 18 71740880 UCEC T A Synonymous p.P234P c.702A>T 18 71796723 NB T C Missense p.E135G c.404A>G 18 71797822 STAD T G Missense p.K271T c.812A>C 18 71793310 HNSC