SYVN1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC116489822964898229+SilentSNPTTCTCGA-OR-A5JP-01A-11D-A29I-10TCGA-OR-A5JP-10A-01D-A29L-10g.chr11:64898229T>Cc.1008A>Gc.(1006-1008)gcA>gcGp.A336A
BLCA116489593564895935+SilentSNPCCTTCGA-G2-A3VY-01A-11D-A22Z-08TCGA-G2-A3VY-10A-01D-A22Z-08g.chr11:64895935C>Tc.1773G>Ac.(1771-1773)gaG>gaAp.E591E
BLCA116489763964897639+Missense_MutationSNPAATTCGA-UY-A78K-01A-11D-A339-08TCGA-UY-A78K-10A-01D-A339-08g.chr11:64897639A>Tc.1243T>Ac.(1243-1245)Tct>Actp.S415T
BLCA116490068564900685+SilentSNPCCTTCGA-GU-A42P-01A-11D-A23U-08TCGA-GU-A42P-10A-01D-A23U-08g.chr11:64900685C>Tc.171G>Ac.(169-171)ctG>ctAp.L57L
BLCA116490069464900694+SilentSNPGGCTCGA-GU-AATQ-01A-11D-A391-08TCGA-GU-AATQ-10A-01D-A394-08g.chr11:64900694G>Cc.162C>Gc.(160-162)gtC>gtGp.V54V
BRCA116489722064897220+Missense_MutationSNPTTGTCGA-A2-A0T5-01A-21D-A099-09TCGA-A2-A0T5-10A-01D-A099-09g.chr11:64897220T>Gc.1576A>Cc.(1576-1578)Acc>Cccp.T526P
BRCA116489754364897543+Missense_MutationSNPCCGTCGA-B6-A0X5-01A-21D-A10G-09TCGA-B6-A0X5-10A-01D-A10G-09g.chr11:64897543C>Gc.1339G>Cc.(1339-1341)Gag>Cagp.E447Q
BRCA116489906064899060+Missense_MutationSNPAAGTCGA-A8-A09Z-01A-11W-A019-09TCGA-A8-A09Z-10A-01W-A021-09g.chr11:64899060A>Gc.539T>Cc.(538-540)aTc>aCcp.I180T
CESC116489775064897750+Missense_MutationSNPCCATCGA-C5-A2LV-01A-11D-A18J-09TCGA-C5-A2LV-10A-01D-A18J-09g.chr11:64897750C>Ac.1207G>Tc.(1207-1209)Gct>Tctp.A403S
COAD116489594564895945+Missense_MutationSNPCCTTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr11:64895945C>Tc.1763G>Ac.(1762-1764)gGc>gAcp.G588D
COAD116489594564895945+Missense_MutationSNPCCTTCGA-D5-6928-01A-11D-1924-10TCGA-D5-6928-10A-01D-1924-10g.chr11:64895945C>Tc.1763G>Ac.(1762-1764)gGc>gAcp.G588D
COAD116489608764896087+SilentSNPCCTTCGA-F4-6570-01A-11D-1771-10TCGA-F4-6570-10A-01D-1771-10g.chr11:64896087C>Tc.1695G>Ac.(1693-1695)acG>acAp.T565T
COAD116489725264897252+Missense_MutationSNPTTCTCGA-CM-5862-01A-01D-1650-10TCGA-CM-5862-10A-01D-1650-10g.chr11:64897252T>Cc.1544A>Gc.(1543-1545)gAc>gGcp.D515G
COAD116489727264897272+SilentSNPAAGTCGA-D5-6533-01A-11D-1719-10TCGA-D5-6533-10A-01D-1719-10g.chr11:64897272A>Gc.1524T>Cc.(1522-1524)cgT>cgCp.R508R
COAD116489759564897595+SilentSNPAAGTCGA-F4-6856-01A-11D-1924-10TCGA-F4-6856-10A-01D-1924-10g.chr11:64897595A>Gc.1287T>Cc.(1285-1287)agT>agCp.S429S
COAD116489777364897773+Missense_MutationSNPGGTTCGA-AZ-6598-01A-11D-1771-10TCGA-AZ-6598-11A-01D-1771-10g.chr11:64897773G>Tc.1184C>Ac.(1183-1185)cCg>cAgp.P395Q
COAD116489840464898404+Missense_MutationSNPTTCTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr11:64898404T>Cc.928A>Gc.(928-930)Att>Gttp.I310V
COAD116489861864898618+Missense_MutationSNPCCTTCGA-AA-3949-01A-01W-0995-10TCGA-AA-3949-10A-01W-0995-10g.chr11:64898618C>Tc.809G>Ac.(808-810)cGc>cAcp.R270H
COAD116489874864898748+Missense_MutationSNPAAGTCGA-AA-3492-01A-01D-1408-10TCGA-AA-3492-11A-01D-1408-10g.chr11:64898748A>Gc.755T>Cc.(754-756)aTg>aCgp.M252T
COAD116489903364899033+Missense_MutationSNPAACTCGA-AA-3681-01A-01W-0900-09TCGA-AA-3681-10A-01W-0900-09g.chr11:64899033A>Cc.566T>Gc.(565-567)tTc>tGcp.F189C
COAD116490102364901023+Missense_MutationSNPGGTTCGA-AZ-6601-01A-11D-1771-10TCGA-AZ-6601-11A-01D-1771-10g.chr11:64901023G>Tc.50C>Ac.(49-51)gCt>gAtp.A17D
COADREAD116489594564895945+Missense_MutationSNPCCTTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr11:64895945C>Tc.1763G>Ac.(1762-1764)gGc>gAcp.G588D
COADREAD116489594564895945+Missense_MutationSNPCCTTCGA-D5-6928-01A-11D-1924-10TCGA-D5-6928-10A-01D-1924-10g.chr11:64895945C>Tc.1763G>Ac.(1762-1764)gGc>gAcp.G588D
COADREAD116489604264896042+SilentSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr11:64896042C>Tc.1740G>Ac.(1738-1740)agG>agAp.R580R
COADREAD116489608764896087+SilentSNPCCTTCGA-F4-6570-01A-11D-1771-10TCGA-F4-6570-10A-01D-1771-10g.chr11:64896087C>Tc.1695G>Ac.(1693-1695)acG>acAp.T565T
COADREAD116489725264897252+Missense_MutationSNPTTCTCGA-CM-5862-01A-01D-1650-10TCGA-CM-5862-10A-01D-1650-10g.chr11:64897252T>Cc.1544A>Gc.(1543-1545)gAc>gGcp.D515G
COADREAD116489727264897272+SilentSNPAAGTCGA-D5-6533-01A-11D-1719-10TCGA-D5-6533-10A-01D-1719-10g.chr11:64897272A>Gc.1524T>Cc.(1522-1524)cgT>cgCp.R508R
COADREAD116489759564897595+SilentSNPAAGTCGA-F4-6856-01A-11D-1924-10TCGA-F4-6856-10A-01D-1924-10g.chr11:64897595A>Gc.1287T>Cc.(1285-1287)agT>agCp.S429S
COADREAD116489777364897773+Missense_MutationSNPGGTTCGA-AZ-6598-01A-11D-1771-10TCGA-AZ-6598-11A-01D-1771-10g.chr11:64897773G>Tc.1184C>Ac.(1183-1185)cCg>cAgp.P395Q
COADREAD116489840464898404+Missense_MutationSNPTTCTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr11:64898404T>Cc.928A>Gc.(928-930)Att>Gttp.I310V
COADREAD116489861864898618+Missense_MutationSNPCCTTCGA-AA-3949-01A-01W-0995-10TCGA-AA-3949-10A-01W-0995-10g.chr11:64898618C>Tc.809G>Ac.(808-810)cGc>cAcp.R270H
COADREAD116489874864898748+Missense_MutationSNPAAGTCGA-AA-3492-01A-01D-1408-10TCGA-AA-3492-11A-01D-1408-10g.chr11:64898748A>Gc.755T>Cc.(754-756)aTg>aCgp.M252T
COADREAD116489903364899033+Missense_MutationSNPAACTCGA-AA-3681-01A-01W-0900-09TCGA-AA-3681-10A-01W-0900-09g.chr11:64899033A>Cc.566T>Gc.(565-567)tTc>tGcp.F189C
COADREAD116490102364901023+Missense_MutationSNPGGTTCGA-AZ-6601-01A-11D-1771-10TCGA-AZ-6601-11A-01D-1771-10g.chr11:64901023G>Tc.50C>Ac.(49-51)gCt>gAtp.A17D
DLBC116489729264897292+Missense_MutationSNPCCTTCGA-G8-6914-01A-11D-2210-10TCGA-G8-6914-14A-01D-2210-10g.chr11:64897292C>Tc.1504G>Ac.(1504-1506)Gcc>Accp.A502T
ESCA116489604864896048+Missense_MutationSNPCCATCGA-L5-A4OE-01A-11D-A27G-09TCGA-L5-A4OE-11A-11D-A27G-09g.chr11:64896048C>Ac.1734G>Tc.(1732-1734)atG>atTp.M578I
ESCA116490095164900951+Missense_MutationSNPGGTTCGA-L5-A4OO-01A-11D-A27G-09TCGA-L5-A4OO-11A-12D-A27G-09g.chr11:64900951G>Tc.122C>Ac.(121-123)cCc>cAcp.P41H
GBMLGG116490045964900459+SilentSNPAACTCGA-DU-A7TI-01A-11D-A33T-08TCGA-DU-A7TI-10A-01D-A33W-08g.chr11:64900459A>Cc.312T>Gc.(310-312)gtT>gtGp.V104V
HNSC116489719964897199+Splice_SiteSNPAAGTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr11:64897199A>Gc.e14+1
HNSC116489736464897364+Missense_MutationSNPGGATCGA-D6-6516-01A-11D-1870-08TCGA-D6-6516-10A-01D-1870-08g.chr11:64897364G>Ac.1432C>Tc.(1432-1434)Cct>Tctp.P478S
HNSC116489749964897499+Missense_MutationSNPCCATCGA-CV-6956-01A-21D-2012-08TCGA-CV-6956-10A-01D-2013-08g.chr11:64897499C>Ac.1383G>Tc.(1381-1383)atG>atTp.M461I
KIPAN116489731264897312+Missense_MutationSNPTTCTCGA-B8-4143-01A-01D-1806-10TCGA-B8-4143-11A-01D-1251-10g.chr11:64897312T>Cc.1484A>Gc.(1483-1485)cAt>cGtp.H495R
KIPAN116489735964897359+SilentSNPCCTTCGA-A4-A7UZ-01A-12D-A34Z-10TCGA-A4-A7UZ-10A-01D-A34Z-10g.chr11:64897359C>Tc.1437G>Ac.(1435-1437)gcG>gcAp.A479A
KIPAN116489753564897536+Frame_Shift_InsINS--CTCGA-B0-5399-01A-01D-1501-10TCGA-B0-5399-10A-01D-1501-10g.chr11:64897535_64897536insCc.1346_1347insGc.(1345-1347)ggcfsp.G449fs
KIPAN116489866564898665+SilentSNPCCTTCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr11:64898665C>Tc.762G>Ac.(760-762)caG>caAp.Q254Q
KIPAN116489901264899012+Missense_MutationSNPGGCTCGA-F9-A97G-01A-11D-A382-10TCGA-F9-A97G-10A-01D-A385-10g.chr11:64899012G>Cc.587C>Gc.(586-588)tCc>tGcp.S196C
KIPAN116490025164900251+Splice_SiteDELTT-TCGA-KV-A6GD-01A-11D-A31X-10TCGA-KV-A6GD-10A-01D-A31X-10g.chr11:64900251delTc.379delAc.(379-381)atg>tgp.M127fs
KIRC116489731264897312+Missense_MutationSNPTTCTCGA-B8-4143-01A-01D-1806-10TCGA-B8-4143-11A-01D-1251-10g.chr11:64897312T>Cc.1484A>Gc.(1483-1485)cAt>cGtp.H495R
KIRC116489753564897536+Frame_Shift_InsINS--CTCGA-B0-5399-01A-01D-1501-10TCGA-B0-5399-10A-01D-1501-10g.chr11:64897535_64897536insCc.1346_1347insGc.(1345-1347)ggcfsp.G449fs
KIRC116489866564898665+SilentSNPCCTTCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr11:64898665C>Tc.762G>Ac.(760-762)caG>caAp.Q254Q
KIRP116489735964897359+SilentSNPCCTTCGA-A4-A7UZ-01A-12D-A34Z-10TCGA-A4-A7UZ-10A-01D-A34Z-10g.chr11:64897359C>Tc.1437G>Ac.(1435-1437)gcG>gcAp.A479A
KIRP116489901264899012+Missense_MutationSNPGGCTCGA-F9-A97G-01A-11D-A382-10TCGA-F9-A97G-10A-01D-A385-10g.chr11:64899012G>Cc.587C>Gc.(586-588)tCc>tGcp.S196C
KIRP116490025164900251+Splice_SiteDELTT-TCGA-KV-A6GD-01A-11D-A31X-10TCGA-KV-A6GD-10A-01D-A31X-10g.chr11:64900251delTc.379delAc.(379-381)atg>tgp.M127fs
LGG116490045964900459+SilentSNPAACTCGA-DU-A7TI-01A-11D-A33T-08TCGA-DU-A7TI-10A-01D-A33W-08g.chr11:64900459A>Cc.312T>Gc.(310-312)gtT>gtGp.V104V
LIHC116489776364897763+Frame_Shift_DelDELGG-TCGA-DD-A39Y-01A-11D-A20W-10TCGA-DD-A39Y-11A-11D-A20W-10g.chr11:64897763delGc.1194delCc.(1192-1194)cccfsp.P398fs
LIHC116489817264898173+In_Frame_InsINS--GGGTCGA-LG-A9QC-01A-11D-A36X-10TCGA-LG-A9QC-10A-01D-A370-10g.chr11:64898172_64898173insGGGc.1064_1065insCCCc.(1063-1065)cct>ccCCCtp.355_355P>PP
LIHC116489877664898776+Missense_MutationSNPAAGTCGA-DD-AACD-01A-11D-A40R-10TCGA-DD-AACD-10A-01D-A40U-10g.chr11:64898776A>Gc.727T>Cc.(727-729)Ttt>Cttp.F243L
LIHC116490042564900425+Missense_MutationSNPAACTCGA-DD-A4NH-01A-11D-A27I-10TCGA-DD-A4NH-10A-01D-A27I-10g.chr11:64900425A>Cc.346T>Gc.(346-348)Ttc>Gtcp.F116V
LIHC116490094164900941+Splice_SiteSNPTTCTCGA-CC-5258-01A-01D-A12Z-10TCGA-CC-5258-10A-01D-A12Z-10g.chr11:64900941T>Cc.132A>Gc.(130-132)gcA>gcGp.A44A
LUAD116489783164897831+Missense_MutationSNPGGATCGA-86-8279-01A-11D-2284-08TCGA-86-8279-10A-01D-2284-08g.chr11:64897831G>Ac.1126C>Tc.(1126-1128)Cct>Tctp.P376S
LUAD116489978564899785+SilentSNPGGATCGA-38-4632-01A-01D-1753-08TCGA-38-4632-11A-01D-1753-08g.chr11:64899785G>Ac.465C>Tc.(463-465)ttC>ttTp.F155F
LUAD116490048464900484+Missense_MutationSNPCCTTCGA-97-8175-01A-11D-2284-08TCGA-97-8175-10A-01D-2284-08g.chr11:64900484C>Tc.287G>Ac.(286-288)cGg>cAgp.R96Q
LUSC116489595364895953+SilentSNPCCTTCGA-39-5027-01A-21D-1817-08TCGA-39-5027-11A-01D-1817-08g.chr11:64895953C>Tc.1755G>Ac.(1753-1755)gaG>gaAp.E585E
LUSC116489816164898161+Missense_MutationSNPGGATCGA-39-5037-01A-01D-1441-08TCGA-39-5037-11A-01D-1441-08g.chr11:64898161G>Ac.1076C>Tc.(1075-1077)cCc>cTcp.P359L
OV116489727464897274+Missense_MutationSNPGGATCGA-13-1498-01A-01W-0549-09TCGA-13-1498-10A-01W-0549-09g.chr11:64897274G>Ac.1522C>Tc.(1522-1524)Cgt>Tgtp.R508C
OV116489900164899001+Nonsense_MutationSNPGGATCGA-61-1903-01A-01W-0639-09TCGA-61-1903-11A-01W-0640-09g.chr11:64899001G>Ac.598C>Tc.(598-600)Cag>Tagp.Q200*
PAAD116489588164895881+SilentSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr11:64895881C>Tc.1827G>Ac.(1825-1827)caG>caAp.Q609Q
PAAD116489606564896065+Missense_MutationSNPGGTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr11:64896065G>Tc.1717C>Ac.(1717-1719)Cca>Acap.P573T
PRAD116489732864897328+Missense_MutationSNPGGCTCGA-KK-A5A1-01A-11D-A29Q-08TCGA-KK-A5A1-11A-12D-A29Q-08g.chr11:64897328G>Cc.1468C>Gc.(1468-1470)Cga>Ggap.R490G
PRAD116490094564900945+Missense_MutationSNPAACTCGA-HC-7738-01A-11D-2114-08TCGA-HC-7738-10A-01D-2115-08g.chr11:64900945A>Cc.128T>Gc.(127-129)aTg>aGgp.M43R
READ116489604264896042+SilentSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr11:64896042C>Tc.1740G>Ac.(1738-1740)agG>agAp.R580R
SKCM116489731764897317+SilentSNPCCTTCGA-EE-A2GJ-06A-11D-A196-08TCGA-EE-A2GJ-10A-01D-A198-08g.chr11:64897317C>Tc.1479G>Ac.(1477-1479)gaG>gaAp.E493E
SKCM116489778864897788+Missense_MutationSNPGGATCGA-D3-A51T-06A-11D-A25O-08TCGA-D3-A51T-10A-01D-A25O-08g.chr11:64897788G>Ac.1169C>Tc.(1168-1170)cCc>cTcp.P390L
SKCM116489820064898200+Missense_MutationSNPGGTTCGA-EE-A2ML-06A-11D-A197-08TCGA-EE-A2ML-10A-01D-A199-08g.chr11:64898200G>Tc.1037C>Ac.(1036-1038)cCg>cAgp.P346Q
SKCM116489820164898201+Missense_MutationSNPGGTTCGA-EE-A2ML-06A-11D-A197-08TCGA-EE-A2ML-10A-01D-A199-08g.chr11:64898201G>Tc.1036C>Ac.(1036-1038)Ccg>Acgp.P346T
SKCM116489978564899785+SilentSNPGGATCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr11:64899785G>Ac.465C>Tc.(463-465)ttC>ttTp.F155F
SKCM116489981164899811+Missense_MutationSNPGGATCGA-EE-A29E-06A-11D-A197-08TCGA-EE-A29E-10A-01D-A199-08g.chr11:64899811G>Ac.439C>Tc.(439-441)Ctc>Ttcp.L147F
SKCM116490047464900474+SilentSNPGGATCGA-EE-A29E-06A-11D-A197-08TCGA-EE-A29E-10A-01D-A199-08g.chr11:64900474G>Ac.297C>Tc.(295-297)ttC>ttTp.F99F
SKCM116490049264900492+SilentSNPGGATCGA-ER-A19D-06A-11D-A197-08TCGA-ER-A19D-10A-01D-A199-08g.chr11:64900492G>Ac.279C>Tc.(277-279)acC>acTp.T93T
SKCM116490054264900542+Missense_MutationSNPGGATCGA-EE-A3JI-06A-11D-A21A-08TCGA-EE-A3JI-10A-01D-A21A-08g.chr11:64900542G>Ac.229C>Tc.(229-231)Ctt>Tttp.L77F
SKCM116490054364900543+SilentSNPGGATCGA-EE-A3JI-06A-11D-A21A-08TCGA-EE-A3JI-10A-01D-A21A-08g.chr11:64900543G>Ac.228C>Tc.(226-228)caC>caTp.H76H
SKCM116490095264900952+Missense_MutationSNPGGATCGA-D3-A3C7-06A-11D-A196-08TCGA-D3-A3C7-10A-01D-A198-08g.chr11:64900952G>Ac.121C>Tc.(121-123)Ccc>Tccp.P41S
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
AML-US116489904764899047single base substitutionCT3_prime_UTR_variant
AML-US116489904764899047single base substitutionCTdownstream_gene_variant
AML-US116489904764899047single base substitutionCTexon_variant
AML-US116489904764899047single base substitutionCTmissense_variantM124I372G>A
AML-US116489904764899047single base substitutionCTmissense_variantM133I399G>A
AML-US116489904764899047single base substitutionCTmissense_variantM169I507G>A
AML-US116489904764899047single base substitutionCTmissense_variantM184I552G>A
AML-US116489904764899047single base substitutionCTupstream_gene_variant
BLCA-CN116488466364884663single base substitutionCTdownstream_gene_variant
BLCA-CN116489202564892025single base substitutionGAdownstream_gene_variant
BLCA-CN116489202564892025single base substitutionGAintron_variant
BLCA-CN116489298964892989single base substitutionCTdownstream_gene_variant
BLCA-CN116489298964892989single base substitutionCTintron_variant
BLCA-US116488458164884581single base substitutionCTdownstream_gene_variant
BLCA-US116488824864888250deletion of <=200bpTCT-downstream_gene_variant
BLCA-US116488908664889086single base substitutionGAdownstream_gene_variant
BLCA-US116488926064889260single base substitutionTAexon_variant
BLCA-US116489593564895935single base substitutionCTdownstream_gene_variant
BLCA-US116489593564895935single base substitutionCTexon_variant
BLCA-US116489593564895935single base substitutionCTintron_variant
BLCA-US116489593564895935single base substitutionCTsynonymous_variantE539E1617G>A
BLCA-US116489593564895935single base substitutionCTsynonymous_variantE590E1770G>A
BLCA-US116489593564895935single base substitutionCTsynonymous_variantE591E1773G>A
BOCA-FR116489999464899994single base substitutionGTdownstream_gene_variant
BOCA-FR116489999464899994single base substitutionGTexon_variant
BOCA-FR116489999464899994single base substitutionGTintron_variant
BOCA-FR116489999464899994single base substitutionGTupstream_gene_variant
BRCA-EU116488557564885601deletion of <=200bpGGACACAGACAAATAAAATGCACTAGG-downstream_gene_variant
BRCA-EU116488591364885913single base substitutionCGdownstream_gene_variant
BRCA-EU116488840564888405single base substitutionGTdownstream_gene_variant
BRCA-EU116488944864889448single base substitutionGCintron_variant
BRCA-EU116489110764891107single base substitutionGAdownstream_gene_variant
BRCA-EU116489110764891107single base substitutionGAintron_variant
BRCA-EU116489126264891262single base substitutionGCdownstream_gene_variant
BRCA-EU116489126264891262single base substitutionGCintron_variant
BRCA-EU116489138464891384single base substitutionTGdownstream_gene_variant
BRCA-EU116489138464891384single base substitutionTGintron_variant
BRCA-EU116489138864891388single base substitutionGCdownstream_gene_variant
BRCA-EU116489138864891388single base substitutionGCintron_variant
BRCA-EU116489224764892247single base substitutionCTdownstream_gene_variant
BRCA-EU116489224764892247single base substitutionCTintron_variant
BRCA-EU116489225864892258single base substitutionCGdownstream_gene_variant
BRCA-EU116489225864892258single base substitutionCGintron_variant
BRCA-EU116489271364892713single base substitutionCAdownstream_gene_variant
BRCA-EU116489271364892713single base substitutionCAintron_variant
BRCA-EU116489809264898092single base substitutionTCdownstream_gene_variant
BRCA-EU116489809264898092single base substitutionTCintron_variant
BRCA-EU116489809264898092single base substitutionTCupstream_gene_variant
BRCA-EU116490034964900349single base substitutionCTintron_variant
BRCA-EU116490034964900349single base substitutionCTupstream_gene_variant
BRCA-EU116490091064900910single base substitutionGCintron_variant
BRCA-EU116490091064900910single base substitutionGCupstream_gene_variant
BRCA-EU116490171264901712single base substitutionCTintron_variant
BRCA-EU116490171264901712single base substitutionCTupstream_gene_variant
BRCA-EU116490241764902417single base substitutionGAupstream_gene_variant
BRCA-EU116490274564902745single base substitutionCTupstream_gene_variant
BRCA-EU116490279964902799single base substitutionGCupstream_gene_variant
BRCA-EU116490316164903161single base substitutionACupstream_gene_variant
BRCA-EU116490316264903162single base substitutionGCupstream_gene_variant
BRCA-EU116490322364903223single base substitutionAGupstream_gene_variant
BRCA-EU116490379464903794single base substitutionAGupstream_gene_variant
BRCA-EU116490403164904031single base substitutionGAupstream_gene_variant
BRCA-EU116490693864906938single base substitutionGAupstream_gene_variant
BRCA-FR116489110764891107single base substitutionGAdownstream_gene_variant
BRCA-FR116489110764891107single base substitutionGAintron_variant
BRCA-FR116489126264891262single base substitutionGCdownstream_gene_variant
BRCA-FR116489126264891262single base substitutionGCintron_variant
BRCA-FR116489138864891388single base substitutionGCdownstream_gene_variant
BRCA-FR116489138864891388single base substitutionGCintron_variant
BRCA-FR116489224764892247single base substitutionCTdownstream_gene_variant
BRCA-FR116489224764892247single base substitutionCTintron_variant
BRCA-FR116489225864892258single base substitutionCGdownstream_gene_variant
BRCA-FR116489225864892258single base substitutionCGintron_variant
BRCA-FR116490379464903794single base substitutionAGupstream_gene_variant
BRCA-UK116489182964891829single base substitutionGCdownstream_gene_variant
BRCA-UK116489182964891829single base substitutionGCintron_variant
BRCA-UK116490379364903793single base substitutionGAupstream_gene_variant
BRCA-US116488985264889852single base substitutionGCdownstream_gene_variant
BRCA-US116488985264889852single base substitutionGCexon_variant
BRCA-US116489355364893553single base substitutionGAdownstream_gene_variant
BRCA-US116489355364893553single base substitutionGAintron_variant
BRCA-US116489722064897220single base substitutionTGdownstream_gene_variant
BRCA-US116489722064897220single base substitutionTGexon_variant
BRCA-US116489722064897220single base substitutionTGmissense_variantT474P1420A>C
BRCA-US116489722064897220single base substitutionTGmissense_variantT525P1573A>C
BRCA-US116489722064897220single base substitutionTGmissense_variantT526P1576A>C
BRCA-US116489754364897543single base substitutionCGdownstream_gene_variant
BRCA-US116489754364897543single base substitutionCGexon_variant
BRCA-US116489754364897543single base substitutionCGmissense_variantE395Q1183G>C
BRCA-US116489754364897543single base substitutionCGmissense_variantE446Q1336G>C
BRCA-US116489754364897543single base substitutionCGmissense_variantE447Q1339G>C
BRCA-US116489754364897543single base substitutionCGupstream_gene_variant
BRCA-US116489906064899060single base substitutionAG3_prime_UTR_variant
BRCA-US116489906064899060single base substitutionAGdownstream_gene_variant
BRCA-US116489906064899060single base substitutionAGexon_variant
BRCA-US116489906064899060single base substitutionAGmissense_variantI120T359T>C
BRCA-US116489906064899060single base substitutionAGmissense_variantI129T386T>C
BRCA-US116489906064899060single base substitutionAGmissense_variantI165T494T>C
BRCA-US116489906064899060single base substitutionAGmissense_variantI180T539T>C
BRCA-US116489906064899060single base substitutionAGupstream_gene_variant
BTCA-JP116488459064884590single base substitutionCTdownstream_gene_variant
BTCA-JP116489596164895961single base substitutionCAdownstream_gene_variant
BTCA-JP116489596164895961single base substitutionCAexon_variant
BTCA-JP116489596164895961single base substitutionCAintron_variant
BTCA-JP116489596164895961single base substitutionCAsplice_acceptor_variant
BTCA-JP116490099564900995deletion of <=200bpT-exon_variant
BTCA-JP116490099564900995deletion of <=200bpT-frameshift_variantK26
BTCA-JP116490099564900995deletion of <=200bpT-upstream_gene_variant
CESC-US116488973664889736single base substitutionGAexon_variant
CESC-US116489620664896206single base substitutionGCdownstream_gene_variant
CESC-US116489620664896206single base substitutionGCexon_variant
CESC-US116489620664896206single base substitutionGCintron_variant
CESC-US116489775064897750single base substitutionCAdownstream_gene_variant
CESC-US116489775064897750single base substitutionCAexon_variant
CESC-US116489775064897750single base substitutionCAmissense_variantA352S1054G>T
CESC-US116489775064897750single base substitutionCAmissense_variantA403S1207G>T
CESC-US116489775064897750single base substitutionCAupstream_gene_variant
CLLE-ES116488810364888103single base substitutionGAdownstream_gene_variant
CLLE-ES116488849964888499single base substitutionTCdownstream_gene_variant
CLLE-ES116490062864900628single base substitutionTCexon_variant
CLLE-ES116490062864900628single base substitutionTCintron_variant
CLLE-ES116490062864900628single base substitutionTCsplice_region_variant
CLLE-ES116490062864900628single base substitutionTCupstream_gene_variant
CLLE-ES116490071764900717single base substitutionAT5_prime_UTR_variant
CLLE-ES116490071764900717single base substitutionATexon_variant
CLLE-ES116490071764900717single base substitutionATintron_variant
CLLE-ES116490071764900717single base substitutionATmissense_variantY47N139T>A
CLLE-ES116490071764900717single base substitutionATupstream_gene_variant
CLLE-ES116490072664900726single base substitutionAC5_prime_UTR_variant
CLLE-ES116490072664900726single base substitutionACexon_variant
CLLE-ES116490072664900726single base substitutionACintron_variant
CLLE-ES116490072664900726single base substitutionACsplice_region_variant
CLLE-ES116490072664900726single base substitutionACupstream_gene_variant
CLLE-ES116490081564900815single base substitutionGCintron_variant
CLLE-ES116490081564900815single base substitutionGCupstream_gene_variant
CLLE-ES116490085264900852single base substitutionAGintron_variant
CLLE-ES116490085264900852single base substitutionAGupstream_gene_variant
CLLE-ES116490644864906448single base substitutionGAupstream_gene_variant
COAD-US116488816464888164single base substitutionCTdownstream_gene_variant
COAD-US116489302464893024single base substitutionGTdownstream_gene_variant
COAD-US116489302464893024single base substitutionGTintron_variant
COAD-US116489594564895945single base substitutionCTdownstream_gene_variant
COAD-US116489594564895945single base substitutionCTexon_variant
COAD-US116489594564895945single base substitutionCTintron_variant
COAD-US116489594564895945single base substitutionCTmissense_variantG536D1607G>A
COAD-US116489594564895945single base substitutionCTmissense_variantG587D1760G>A
COAD-US116489594564895945single base substitutionCTmissense_variantG588D1763G>A
COAD-US116489608764896087single base substitutionCTdownstream_gene_variant
COAD-US116489608764896087single base substitutionCTexon_variant
COAD-US116489608764896087single base substitutionCTintron_variant
COAD-US116489608764896087single base substitutionCTsynonymous_variantT513T1539G>A
COAD-US116489608764896087single base substitutionCTsynonymous_variantT564T1692G>A
COAD-US116489608764896087single base substitutionCTsynonymous_variantT565T1695G>A
COAD-US116489777364897773single base substitutionGTdownstream_gene_variant
COAD-US116489777364897773single base substitutionGTexon_variant
COAD-US116489777364897773single base substitutionGTmissense_variantP344Q1031C>A
COAD-US116489777364897773single base substitutionGTmissense_variantP395Q1184C>A
COAD-US116489777364897773single base substitutionGTupstream_gene_variant
COAD-US116489821764898217single base substitutionCTdownstream_gene_variant
COAD-US116489821764898217single base substitutionCTexon_variant
COAD-US116489821764898217single base substitutionCTsynonymous_variantA289A867G>A
COAD-US116489821764898217single base substitutionCTsynonymous_variantA340A1020G>A
COAD-US116489821764898217single base substitutionCTupstream_gene_variant
COAD-US116489822664898226single base substitutionCTdownstream_gene_variant
COAD-US116489822664898226single base substitutionCTexon_variant
COAD-US116489822664898226single base substitutionCTsynonymous_variantS286S858G>A
COAD-US116489822664898226single base substitutionCTsynonymous_variantS337S1011G>A
COAD-US116489822664898226single base substitutionCTupstream_gene_variant
COAD-US116489874864898748single base substitutionAG3_prime_UTR_variant
COAD-US116489874864898748single base substitutionAGdownstream_gene_variant
COAD-US116489874864898748single base substitutionAGexon_variant
COAD-US116489874864898748single base substitutionAGmissense_variantM192T575T>C
COAD-US116489874864898748single base substitutionAGmissense_variantM201T602T>C
COAD-US116489874864898748single base substitutionAGmissense_variantM237T710T>C
COAD-US116489874864898748single base substitutionAGmissense_variantM252T755T>C
COAD-US116489874864898748single base substitutionAGupstream_gene_variant
COCA-CN116488433464884334single base substitutionCTdownstream_gene_variant
COCA-CN116488931164889311single base substitutionGTintron_variant
COCA-CN116488932264889322single base substitutionGTintron_variant
COCA-CN116489312664893126single base substitutionAGdownstream_gene_variant
COCA-CN116489312664893126single base substitutionAGintron_variant
COCA-CN116489618564896185single base substitutionGCdownstream_gene_variant
COCA-CN116489618564896185single base substitutionGCexon_variant
COCA-CN116489618564896185single base substitutionGCintron_variant
COCA-CN116489618564896185single base substitutionGCmissense_variantP481A1441C>G
COCA-CN116489618564896185single base substitutionGCmissense_variantP532A1594C>G
COCA-CN116489618564896185single base substitutionGCmissense_variantP533A1597C>G
COCA-CN116490033764900337single base substitutionGAintron_variant
COCA-CN116490033764900337single base substitutionGAupstream_gene_variant
COCA-CN116490512564905125single base substitutionTCupstream_gene_variant
EOPC-DE116488951464889514single base substitutionGAintron_variant
ESAD-UK116488513964885139single base substitutionGAdownstream_gene_variant
ESAD-UK116488694064886940single base substitutionCTdownstream_gene_variant
ESAD-UK116489375164893751single base substitutionCTdownstream_gene_variant
ESAD-UK116489375164893751single base substitutionCTintron_variant
ESAD-UK116489629964896299single base substitutionGAdownstream_gene_variant
ESAD-UK116489629964896299single base substitutionGAexon_variant
ESAD-UK116489629964896299single base substitutionGAintron_variant
ESAD-UK116489725064897250single base substitutionCTdownstream_gene_variant
ESAD-UK116489725064897250single base substitutionCTexon_variant
ESAD-UK116489725064897250single base substitutionCTmissense_variantA464T1390G>A
ESAD-UK116489725064897250single base substitutionCTmissense_variantA515T1543G>A
ESAD-UK116489725064897250single base substitutionCTmissense_variantA516T1546G>A
ESAD-UK116489767564897675single base substitutionTCdownstream_gene_variant
ESAD-UK116489767564897675single base substitutionTCexon_variant
ESAD-UK116489767564897675single base substitutionTCintron_variant
ESAD-UK116489767564897675single base substitutionTCupstream_gene_variant
ESAD-UK116489856764898567single base substitutionCTdownstream_gene_variant
ESAD-UK116489856764898567single base substitutionCTintron_variant
ESAD-UK116489856764898567single base substitutionCTupstream_gene_variant
ESAD-UK116489912864899128single base substitutionTCdownstream_gene_variant
ESAD-UK116489912864899128single base substitutionTCintron_variant
ESAD-UK116489912864899128single base substitutionTCupstream_gene_variant
ESAD-UK116489984464899844single base substitutionCGdownstream_gene_variant
ESAD-UK116489984464899844single base substitutionCGexon_variant
ESAD-UK116489984464899844single base substitutionCGintron_variant
ESAD-UK116489984464899844single base substitutionCGupstream_gene_variant
ESAD-UK116490218964902189single base substitutionCTupstream_gene_variant
ESAD-UK116490451964904519insertion of <=200bp-Aupstream_gene_variant
ESAD-UK116490505664905056single base substitutionTAupstream_gene_variant
ESAD-UK116490676264906762single base substitutionGTupstream_gene_variant
GBM-US116488824864888250deletion of <=200bpTCT-downstream_gene_variant
KIRC-US116488845564888455single base substitutionTCdownstream_gene_variant
KIRC-US116489731264897312single base substitutionTCdownstream_gene_variant
KIRC-US116489731264897312single base substitutionTCexon_variant
KIRC-US116489731264897312single base substitutionTCmissense_variantH443R1328A>G
KIRC-US116489731264897312single base substitutionTCmissense_variantH494R1481A>G
KIRC-US116489731264897312single base substitutionTCmissense_variantH495R1484A>G
KIRC-US116489753564897535insertion of <=200bp-Cdownstream_gene_variant
KIRC-US116489753564897535insertion of <=200bp-Cexon_variant
KIRC-US116489753564897535insertion of <=200bp-Cframeshift_variantG397G?
KIRC-US116489753564897535insertion of <=200bp-Cframeshift_variantG448G?
KIRC-US116489753564897535insertion of <=200bp-Cframeshift_variantG449G?
KIRC-US116489753564897535insertion of <=200bp-Cupstream_gene_variant
KIRP-US116488825864888258single base substitutionCAdownstream_gene_variant
KIRP-US116488926864889268single base substitutionGTexon_variant
KIRP-US116488926964889269single base substitutionCGexon_variant
KIRP-US116490025164900251deletion of <=200bpT-frameshift_variantM112
KIRP-US116490025164900251deletion of <=200bpT-frameshift_variantM127
KIRP-US116490025164900251deletion of <=200bpT-frameshift_variantM67
KIRP-US116490025164900251deletion of <=200bpT-intron_variant
KIRP-US116490025164900251deletion of <=200bpT-splice_region_variant
KIRP-US116490025164900251deletion of <=200bpT-upstream_gene_variant
LAML-KR116490404664904046single base substitutionGAupstream_gene_variant
LGG-US116488824864888250deletion of <=200bpTCT-downstream_gene_variant
LICA-FR116489099164890991single base substitutionGAdownstream_gene_variant
LICA-FR116489099164890991single base substitutionGAintron_variant
LIHC-US116488816164888161single base substitutionTAdownstream_gene_variant
LIHC-US116488982264889822single base substitutionGCdownstream_gene_variant
LIHC-US116488982264889822single base substitutionGCexon_variant
LIHC-US116490042564900425single base substitutionACexon_variant
LIHC-US116490042564900425single base substitutionACmissense_variantF101V301T>G
LIHC-US116490042564900425single base substitutionACmissense_variantF116V346T>G
LIHC-US116490042564900425single base substitutionACmissense_variantF56V166T>G
LIHC-US116490042564900425single base substitutionACupstream_gene_variant
LIHC-US116490094164900941single base substitutionTCsplice_region_variant
LIHC-US116490094164900941single base substitutionTCupstream_gene_variant
LINC-JP116488441664884416single base substitutionACdownstream_gene_variant
LINC-JP116488816964888169single base substitutionGTdownstream_gene_variant
LINC-JP116488869264888692single base substitutionTCdownstream_gene_variant
LINC-JP116489428364894283single base substitutionACdownstream_gene_variant
LINC-JP116489428364894283single base substitutionACintron_variant
LINC-JP116489478864894788single base substitutionTG3_prime_UTR_variant
LINC-JP116489478864894788single base substitutionTGdownstream_gene_variant
LINC-JP116489478864894788single base substitutionTGexon_variant
LINC-JP116489478864894788single base substitutionTGintron_variant
LINC-JP116489587764895877single base substitutionGTdownstream_gene_variant
LINC-JP116489587764895877single base substitutionGTexon_variant
LINC-JP116489587764895877single base substitutionGTintron_variant
LINC-JP116489587764895877single base substitutionGTmissense_variantL559M1675C>A
LINC-JP116489587764895877single base substitutionGTmissense_variantL610M1828C>A
LINC-JP116489587764895877single base substitutionGTmissense_variantL611M1831C>A
LINC-JP116489589564895895single base substitutionGCdownstream_gene_variant
LINC-JP116489589564895895single base substitutionGCexon_variant
LINC-JP116489589564895895single base substitutionGCintron_variant
LINC-JP116489589564895895single base substitutionGCmissense_variantR553G1657C>G
LINC-JP116489589564895895single base substitutionGCmissense_variantR604G1810C>G
LINC-JP116489589564895895single base substitutionGCmissense_variantR605G1813C>G
LINC-JP116489647764896477single base substitutionTGdownstream_gene_variant
LINC-JP116489647764896477single base substitutionTGexon_variant
LINC-JP116489647764896477single base substitutionTGintron_variant
LINC-JP116489650664896506single base substitutionTCdownstream_gene_variant
LINC-JP116489650664896506single base substitutionTCexon_variant
LINC-JP116489650664896506single base substitutionTCintron_variant
LINC-JP116489651164896511single base substitutionTAdownstream_gene_variant
LINC-JP116489651164896511single base substitutionTAexon_variant
LINC-JP116489651164896511single base substitutionTAintron_variant
LINC-JP116489696764896967single base substitutionGAdownstream_gene_variant
LINC-JP116489696764896967single base substitutionGAexon_variant
LINC-JP116489696764896967single base substitutionGAintron_variant
LINC-JP116489728764897287single base substitutionCAdownstream_gene_variant
LINC-JP116489728764897287single base substitutionCAexon_variant
LINC-JP116489728764897287single base substitutionCAsynonymous_variantR451R1353G>T
LINC-JP116489728764897287single base substitutionCAsynonymous_variantR502R1506G>T
LINC-JP116489728764897287single base substitutionCAsynonymous_variantR503R1509G>T
LINC-JP116489728864897288single base substitutionCAdownstream_gene_variant
LINC-JP116489728864897288single base substitutionCAexon_variant
LINC-JP116489728864897288single base substitutionCAmissense_variantR451L1352G>T
LINC-JP116489728864897288single base substitutionCAmissense_variantR502L1505G>T
LINC-JP116489728864897288single base substitutionCAmissense_variantR503L1508G>T
LINC-JP116489816464898164single base substitutionTGdownstream_gene_variant
LINC-JP116489816464898164single base substitutionTGexon_variant
LINC-JP116489816464898164single base substitutionTGmissense_variantH307P920A>C
LINC-JP116489816464898164single base substitutionTGmissense_variantH358P1073A>C
LINC-JP116489816464898164single base substitutionTGupstream_gene_variant
LINC-JP116489903764899037single base substitutionTC3_prime_UTR_variant
LINC-JP116489903764899037single base substitutionTCdownstream_gene_variant
LINC-JP116489903764899037single base substitutionTCexon_variant
LINC-JP116489903764899037single base substitutionTCmissense_variantI128V382A>G
LINC-JP116489903764899037single base substitutionTCmissense_variantI137V409A>G
LINC-JP116489903764899037single base substitutionTCmissense_variantI173V517A>G
LINC-JP116489903764899037single base substitutionTCmissense_variantI188V562A>G
LINC-JP116489903764899037single base substitutionTCupstream_gene_variant
LINC-JP116490025164900251single base substitutionTCintron_variant
LINC-JP116490025164900251single base substitutionTCmissense_variantM112V334A>G
LINC-JP116490025164900251single base substitutionTCmissense_variantM127V379A>G
LINC-JP116490025164900251single base substitutionTCmissense_variantM67V199A>G
LINC-JP116490025164900251single base substitutionTCsplice_region_variant
LINC-JP116490025164900251single base substitutionTCupstream_gene_variant
LINC-JP116490096964900969single base substitutionTCexon_variant
LINC-JP116490096964900969single base substitutionTCmissense_variantY35C104A>G
LINC-JP116490096964900969single base substitutionTCupstream_gene_variant
LIRI-JP116488524564885245single base substitutionCGdownstream_gene_variant
LIRI-JP116488586864885868single base substitutionCTdownstream_gene_variant
LIRI-JP116488701464887014single base substitutionGAdownstream_gene_variant
LIRI-JP116488776064887760single base substitutionTCdownstream_gene_variant
LIRI-JP116488799664887996deletion of <=200bpA-downstream_gene_variant
LIRI-JP116488811164888111single base substitutionTAdownstream_gene_variant
LIRI-JP116488834564888345single base substitutionCTdownstream_gene_variant
LIRI-JP116488901064889010single base substitutionGAdownstream_gene_variant
LIRI-JP116489449464894494single base substitutionTCdownstream_gene_variant
LIRI-JP116489449464894494single base substitutionTCintron_variant
LIRI-JP116489451164894511single base substitutionAGdownstream_gene_variant
LIRI-JP116489451164894511single base substitutionAGintron_variant
LIRI-JP116489657464896574single base substitutionTGdownstream_gene_variant
LIRI-JP116489657464896574single base substitutionTGexon_variant
LIRI-JP116489657464896574single base substitutionTGintron_variant
LIRI-JP116489659664896596single base substitutionTCdownstream_gene_variant
LIRI-JP116489659664896596single base substitutionTCexon_variant
LIRI-JP116489659664896596single base substitutionTCintron_variant
LIRI-JP116489808064898080single base substitutionCGdownstream_gene_variant
LIRI-JP116489808064898080single base substitutionCGintron_variant
LIRI-JP116489808064898080single base substitutionCGupstream_gene_variant
LIRI-JP116489944864899448single base substitutionGAdownstream_gene_variant
LIRI-JP116489944864899448single base substitutionGAintron_variant
LIRI-JP116489944864899448single base substitutionGAupstream_gene_variant
LIRI-JP116490374164903741single base substitutionCTupstream_gene_variant
LIRI-JP116490451064904510single base substitutionGAupstream_gene_variant
LUSC-KR116488702364887023single base substitutionGAdownstream_gene_variant
LUSC-KR116488705564887055single base substitutionGAdownstream_gene_variant
LUSC-KR116488754464887544single base substitutionGAdownstream_gene_variant
LUSC-KR116488959864889598single base substitutionGAexon_variant
LUSC-KR116488961564889615single base substitutionGCexon_variant
LUSC-KR116489100564891005single base substitutionGCdownstream_gene_variant
LUSC-KR116489100564891005single base substitutionGCintron_variant
LUSC-KR116489326764893267single base substitutionGAdownstream_gene_variant
LUSC-KR116489326764893267single base substitutionGAintron_variant
LUSC-KR116489554464895544single base substitutionGC3_prime_UTR_variant
LUSC-KR116489554464895544single base substitutionGCdownstream_gene_variant
LUSC-KR116489554464895544single base substitutionGCexon_variant
LUSC-KR116489554464895544single base substitutionGCintron_variant
LUSC-KR116489623764896237single base substitutionGAdownstream_gene_variant
LUSC-KR116489623764896237single base substitutionGAexon_variant
LUSC-KR116489623764896237single base substitutionGAintron_variant
LUSC-KR116490027064900270single base substitutionGTintron_variant
LUSC-KR116490027064900270single base substitutionGTupstream_gene_variant
LUSC-KR116490055764900557single base substitutionGTexon_variant
LUSC-KR116490055764900557single base substitutionGTintron_variant
LUSC-KR116490055764900557single base substitutionGTupstream_gene_variant
LUSC-KR116490446564904465single base substitutionGCupstream_gene_variant
LUSC-US116489595364895953single base substitutionCTdownstream_gene_variant
LUSC-US116489595364895953single base substitutionCTexon_variant
LUSC-US116489595364895953single base substitutionCTintron_variant
LUSC-US116489595364895953single base substitutionCTsynonymous_variantE533E1599G>A
LUSC-US116489595364895953single base substitutionCTsynonymous_variantE584E1752G>A
LUSC-US116489595364895953single base substitutionCTsynonymous_variantE585E1755G>A
LUSC-US116489816164898161single base substitutionGAdownstream_gene_variant
LUSC-US116489816164898161single base substitutionGAexon_variant
LUSC-US116489816164898161single base substitutionGAmissense_variantP308L923C>T
LUSC-US116489816164898161single base substitutionGAmissense_variantP359L1076C>T
LUSC-US116489816164898161single base substitutionGAupstream_gene_variant
MALY-DE116488573864885738single base substitutionCAdownstream_gene_variant
MALY-DE116488645064886450single base substitutionCTdownstream_gene_variant
MALY-DE116488978564889785single base substitutionTGdownstream_gene_variant
MALY-DE116488978564889785single base substitutionTGexon_variant
MALY-DE116489534164895341single base substitutionCA3_prime_UTR_variant
MALY-DE116489534164895341single base substitutionCAdownstream_gene_variant
MALY-DE116489534164895341single base substitutionCAexon_variant
MALY-DE116489534164895341single base substitutionCAintron_variant
MALY-DE116490068364900683single base substitutionCT5_prime_UTR_variant
MALY-DE116490068364900683single base substitutionCTexon_variant
MALY-DE116490068364900683single base substitutionCTmissense_variantG58D173G>A
MALY-DE116490068364900683single base substitutionCTsplice_region_variant
MALY-DE116490068364900683single base substitutionCTupstream_gene_variant
MALY-DE116490072564900725single base substitutionTC5_prime_UTR_premature_start_codon_gain_variant
MALY-DE116490072564900725single base substitutionTCexon_variant
MALY-DE116490072564900725single base substitutionTCintron_variant
MALY-DE116490072564900725single base substitutionTCsplice_acceptor_variant
MALY-DE116490072564900725single base substitutionTCupstream_gene_variant
MELA-AU116488454964884549single base substitutionGAdownstream_gene_variant
MELA-AU116488527364885273single base substitutionCTdownstream_gene_variant
MELA-AU116488614564886146multiple base substitution (>=2bp and <=200bp)GTTGdownstream_gene_variant
MELA-AU116488681764886817single base substitutionATdownstream_gene_variant
MELA-AU116488705564887055single base substitutionGAdownstream_gene_variant
MELA-AU116488737064887370single base substitutionGAdownstream_gene_variant
MELA-AU116488805364888053single base substitutionGAdownstream_gene_variant
MELA-AU116488813964888139single base substitutionGAdownstream_gene_variant
MELA-AU116488816964888169single base substitutionGAdownstream_gene_variant
MELA-AU116488826464888264single base substitutionCTdownstream_gene_variant
MELA-AU116488836164888361single base substitutionGAdownstream_gene_variant
MELA-AU116488840964888409deletion of <=200bpG-downstream_gene_variant
MELA-AU116488848664888486single base substitutionGAdownstream_gene_variant
MELA-AU116488851864888518single base substitutionGAdownstream_gene_variant
MELA-AU116488918364889183single base substitutionGAdownstream_gene_variant
MELA-AU116488967864889678single base substitutionCTexon_variant
MELA-AU116489055964890559single base substitutionTCdownstream_gene_variant
MELA-AU116489055964890559single base substitutionTCintron_variant
MELA-AU116489135164891351single base substitutionGAdownstream_gene_variant
MELA-AU116489135164891351single base substitutionGAintron_variant
MELA-AU116489177064891770single base substitutionCTdownstream_gene_variant
MELA-AU116489177064891770single base substitutionCTintron_variant
MELA-AU116489233464892334single base substitutionGAdownstream_gene_variant
MELA-AU116489233464892334single base substitutionGAintron_variant
MELA-AU116489281764892817single base substitutionGAdownstream_gene_variant
MELA-AU116489281764892817single base substitutionGAintron_variant
MELA-AU116489319464893195multiple base substitution (>=2bp and <=200bp)CCATdownstream_gene_variant
MELA-AU116489319464893195multiple base substitution (>=2bp and <=200bp)CCATintron_variant
MELA-AU116489459864894598single base substitutionCTdownstream_gene_variant
MELA-AU116489459864894598single base substitutionCTintron_variant
MELA-AU116489466264894663multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU116489466264894663multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU116489554464895544single base substitutionGA3_prime_UTR_variant
MELA-AU116489554464895544single base substitutionGAdownstream_gene_variant
MELA-AU116489554464895544single base substitutionGAexon_variant
MELA-AU116489554464895544single base substitutionGAintron_variant
MELA-AU116489571864895718single base substitutionGA3_prime_UTR_variant
MELA-AU116489571864895718single base substitutionGAdownstream_gene_variant
MELA-AU116489571864895718single base substitutionGAexon_variant
MELA-AU116489571864895718single base substitutionGAintron_variant
MELA-AU116489644964896449single base substitutionCTdownstream_gene_variant
MELA-AU116489644964896449single base substitutionCTexon_variant
MELA-AU116489644964896449single base substitutionCTintron_variant
MELA-AU116489791764897917single base substitutionGAdownstream_gene_variant
MELA-AU116489791764897917single base substitutionGAintron_variant
MELA-AU116489791764897917single base substitutionGAupstream_gene_variant
MELA-AU116489822264898222single base substitutionGAdownstream_gene_variant
MELA-AU116489822264898222single base substitutionGAexon_variant
MELA-AU116489822264898222single base substitutionGAmissense_variantP288S862C>T
MELA-AU116489822264898222single base substitutionGAmissense_variantP339S1015C>T
MELA-AU116489822264898222single base substitutionGAupstream_gene_variant
MELA-AU116489949364899493single base substitutionCAdownstream_gene_variant
MELA-AU116489949364899493single base substitutionCAintron_variant
MELA-AU116489949364899493single base substitutionCAupstream_gene_variant
MELA-AU116489978564899785single base substitutionGAdownstream_gene_variant
MELA-AU116489978564899785single base substitutionGAexon_variant
MELA-AU116489978564899785single base substitutionGAintron_variant
MELA-AU116489978564899785single base substitutionGAsplice_region_variant
MELA-AU116489978564899785single base substitutionGAsynonymous_variantF140F420C>T
MELA-AU116489978564899785single base substitutionGAsynonymous_variantF155F465C>T
MELA-AU116489978564899785single base substitutionGAsynonymous_variantF95F285C>T
MELA-AU116489978564899785single base substitutionGAupstream_gene_variant
MELA-AU116490137264901372single base substitutionGAintron_variant
MELA-AU116490137264901372single base substitutionGAupstream_gene_variant
MELA-AU116490159464901594single base substitutionGAintron_variant
MELA-AU116490159464901594single base substitutionGAupstream_gene_variant
MELA-AU116490201264902012single base substitutionGAupstream_gene_variant
MELA-AU116490201364902013single base substitutionGAupstream_gene_variant
MELA-AU116490204064902040single base substitutionCTupstream_gene_variant
MELA-AU116490204564902045single base substitutionGAupstream_gene_variant
MELA-AU116490241764902417single base substitutionGAupstream_gene_variant
MELA-AU116490293564902935single base substitutionCTupstream_gene_variant
MELA-AU116490329064903290single base substitutionCTupstream_gene_variant
MELA-AU116490359364903593single base substitutionCTupstream_gene_variant
MELA-AU116490364364903643single base substitutionCTupstream_gene_variant
MELA-AU116490365864903658single base substitutionCTupstream_gene_variant
MELA-AU116490371264903712single base substitutionCTupstream_gene_variant
MELA-AU116490465164904651single base substitutionCTupstream_gene_variant
MELA-AU116490472364904723single base substitutionCTupstream_gene_variant
MELA-AU116490516664905166single base substitutionTAupstream_gene_variant
MELA-AU116490520064905200single base substitutionCTupstream_gene_variant
MELA-AU116490552564905525single base substitutionTAupstream_gene_variant
MELA-AU116490562264905622single base substitutionCTupstream_gene_variant
MELA-AU116490686764906867single base substitutionCTupstream_gene_variant
ORCA-IN116488493264884932single base substitutionGTdownstream_gene_variant
ORCA-IN116489307664893076single base substitutionGTdownstream_gene_variant
ORCA-IN116489307664893076single base substitutionGTintron_variant
ORCA-IN116489611864896118single base substitutionGTdownstream_gene_variant
ORCA-IN116489611864896118single base substitutionGTexon_variant
ORCA-IN116489611864896118single base substitutionGTintron_variant
ORCA-IN116489611864896118single base substitutionGTmissense_variantS503Y1508C>A
ORCA-IN116489611864896118single base substitutionGTmissense_variantS554Y1661C>A
ORCA-IN116489611864896118single base substitutionGTmissense_variantS555Y1664C>A
OV-AU116489183764891837single base substitutionTAdownstream_gene_variant
OV-AU116489183764891837single base substitutionTAintron_variant
OV-AU116489487164894871single base substitutionAG3_prime_UTR_variant
OV-AU116489487164894871single base substitutionAGdownstream_gene_variant
OV-AU116489487164894871single base substitutionAGexon_variant
OV-AU116489487164894871single base substitutionAGintron_variant
OV-AU116490389164903891single base substitutionCTupstream_gene_variant
OV-AU116490403664904036single base substitutionGCupstream_gene_variant
OV-US116489727464897274single base substitutionGAdownstream_gene_variant
OV-US116489727464897274single base substitutionGAexon_variant
OV-US116489727464897274single base substitutionGAmissense_variantR456C1366C>T
OV-US116489727464897274single base substitutionGAmissense_variantR507C1519C>T
OV-US116489727464897274single base substitutionGAmissense_variantR508C1522C>T
PACA-AU116488567164885671single base substitutionGAdownstream_gene_variant
PACA-AU116488930164889301single base substitutionACintron_variant
PACA-AU116489120564891205deletion of <=200bpA-downstream_gene_variant
PACA-AU116489120564891205deletion of <=200bpA-intron_variant
PACA-AU116489408064894080insertion of <=200bp-Tdownstream_gene_variant
PACA-AU116489408064894080insertion of <=200bp-Tintron_variant
PACA-AU116489578764895787single base substitutionGA3_prime_UTR_variant
PACA-AU116489578764895787single base substitutionGAdownstream_gene_variant
PACA-AU116489578764895787single base substitutionGAexon_variant
PACA-AU116489578764895787single base substitutionGAintron_variant
PACA-AU116489972564899725single base substitutionGC3_prime_UTR_variant
PACA-AU116489972564899725single base substitutionGCdownstream_gene_variant
PACA-AU116489972564899725single base substitutionGCexon_variant
PACA-AU116489972564899725single base substitutionGCintron_variant
PACA-AU116489972564899725single base substitutionGCsynonymous_variantG115G345C>G
PACA-AU116489972564899725single base substitutionGCsynonymous_variantG160G480C>G
PACA-AU116489972564899725single base substitutionGCsynonymous_variantG175G525C>G
PACA-AU116489972564899725single base substitutionGCupstream_gene_variant
PACA-AU116490560964905609single base substitutionCTupstream_gene_variant
PACA-CA116488788164887881single base substitutionCGdownstream_gene_variant
PACA-CA116488801664888016single base substitutionCTdownstream_gene_variant
PACA-CA116488815764888157single base substitutionGCdownstream_gene_variant
PACA-CA116488820464888204single base substitutionGAdownstream_gene_variant
PACA-CA116488825264888252single base substitutionCTdownstream_gene_variant
PACA-CA116488825564888255single base substitutionCTdownstream_gene_variant
PACA-CA116488826164888261single base substitutionCTdownstream_gene_variant
PACA-CA116488835064888350single base substitutionCTdownstream_gene_variant
PACA-CA116488847164888471single base substitutionCGdownstream_gene_variant
PACA-CA116488857964888579single base substitutionCTdownstream_gene_variant
PACA-CA116488858464888584single base substitutionCTdownstream_gene_variant
PACA-CA116488881764888817single base substitutionCGdownstream_gene_variant
PACA-CA116488938364889383single base substitutionCTintron_variant
PACA-CA116489148864891488single base substitutionTGdownstream_gene_variant
PACA-CA116489148864891488single base substitutionTGintron_variant
PACA-CA116489381764893817single base substitutionGTdownstream_gene_variant
PACA-CA116489381764893817single base substitutionGTintron_variant
PACA-CA116489421564894215single base substitutionGAdownstream_gene_variant
PACA-CA116489421564894215single base substitutionGAintron_variant
PACA-CA116489498264894982single base substitutionGT3_prime_UTR_variant
PACA-CA116489498264894982single base substitutionGTdownstream_gene_variant
PACA-CA116489498264894982single base substitutionGTexon_variant
PACA-CA116489498264894982single base substitutionGTintron_variant
PACA-CA116489514264895142single base substitutionGC3_prime_UTR_variant
PACA-CA116489514264895142single base substitutionGCdownstream_gene_variant
PACA-CA116489514264895142single base substitutionGCexon_variant
PACA-CA116489514264895142single base substitutionGCintron_variant
PACA-CA116489517664895176single base substitutionGA3_prime_UTR_variant
PACA-CA116489517664895176single base substitutionGAdownstream_gene_variant
PACA-CA116489517664895176single base substitutionGAexon_variant
PACA-CA116489517664895176single base substitutionGAintron_variant
PACA-CA116489547164895471single base substitutionGA3_prime_UTR_variant
PACA-CA116489547164895471single base substitutionGAdownstream_gene_variant
PACA-CA116489547164895471single base substitutionGAexon_variant
PACA-CA116489547164895471single base substitutionGAintron_variant
PACA-CA116489840064898400deletion of <=200bpA-downstream_gene_variant
PACA-CA116489840064898400deletion of <=200bpA-exon_variant
PACA-CA116489840064898400deletion of <=200bpA-frameshift_variantF260
PACA-CA116489840064898400deletion of <=200bpA-frameshift_variantF311
PACA-CA116489840064898400deletion of <=200bpA-upstream_gene_variant
PACA-CA116490286364902863single base substitutionCGupstream_gene_variant
PACA-CA116490601064906010single base substitutionCTupstream_gene_variant
PAEN-IT116489032764890327single base substitutionGAdownstream_gene_variant
PAEN-IT116489032764890327single base substitutionGAintron_variant
PBCA-DE116488809964888099single base substitutionCTdownstream_gene_variant
PBCA-DE116490606764906067deletion of <=200bpA-upstream_gene_variant
PRAD-CA116489404664894046single base substitutionCTdownstream_gene_variant
PRAD-CA116489404664894046single base substitutionCTintron_variant
PRAD-CA116490144664901446single base substitutionACintron_variant
PRAD-CA116490144664901446single base substitutionACupstream_gene_variant
PRAD-CA116490449964904499single base substitutionGAupstream_gene_variant
PRAD-US116489732864897328single base substitutionGCdownstream_gene_variant
PRAD-US116489732864897328single base substitutionGCexon_variant
PRAD-US116489732864897328single base substitutionGCmissense_variantR438G1312C>G
PRAD-US116489732864897328single base substitutionGCmissense_variantR489G1465C>G
PRAD-US116489732864897328single base substitutionGCmissense_variantR490G1468C>G
PRAD-US116490094564900945single base substitutionACexon_variant
PRAD-US116490094564900945single base substitutionACmissense_variantM43R128T>G
PRAD-US116490094564900945single base substitutionACupstream_gene_variant
READ-US116489894764898947single base substitutionAG3_prime_UTR_variant
READ-US116489894764898947single base substitutionAGdownstream_gene_variant
READ-US116489894764898947single base substitutionAGexon_variant
READ-US116489894764898947single base substitutionAGmissense_variantF158L472T>C
READ-US116489894764898947single base substitutionAGmissense_variantF167L499T>C
READ-US116489894764898947single base substitutionAGmissense_variantF203L607T>C
READ-US116489894764898947single base substitutionAGmissense_variantF218L652T>C
READ-US116489894764898947single base substitutionAGupstream_gene_variant
RECA-EU116488436364884363single base substitutionGCdownstream_gene_variant
RECA-EU116488627364886273single base substitutionAGdownstream_gene_variant
RECA-EU116489951464899514single base substitutionCTdownstream_gene_variant
RECA-EU116489951464899514single base substitutionCTintron_variant
RECA-EU116489951464899514single base substitutionCTupstream_gene_variant
SKCA-BR116488841064888410single base substitutionGAdownstream_gene_variant
SKCA-BR116489151264891512single base substitutionAGdownstream_gene_variant
SKCA-BR116489151264891512single base substitutionAGintron_variant
SKCA-BR116489521464895214single base substitutionTG3_prime_UTR_variant
SKCA-BR116489521464895214single base substitutionTGdownstream_gene_variant
SKCA-BR116489521464895214single base substitutionTGexon_variant
SKCA-BR116489521464895214single base substitutionTGintron_variant
SKCA-BR116489618664896186single base substitutionCGdownstream_gene_variant
SKCA-BR116489618664896186single base substitutionCGexon_variant
SKCA-BR116489618664896186single base substitutionCGintron_variant
SKCA-BR116489618664896186single base substitutionCGsplice_region_variant
SKCA-BR116489623764896237single base substitutionGAdownstream_gene_variant
SKCA-BR116489623764896237single base substitutionGAexon_variant
SKCA-BR116489623764896237single base substitutionGAintron_variant
SKCA-BR116489826464898264single base substitutionTGdownstream_gene_variant
SKCA-BR116489826464898264single base substitutionTGexon_variant
SKCA-BR116489826464898264single base substitutionTGmissense_variantT274P820A>C
SKCA-BR116489826464898264single base substitutionTGmissense_variantT325P973A>C
SKCA-BR116489826464898264single base substitutionTGupstream_gene_variant
SKCA-BR116490392564903925single base substitutionATupstream_gene_variant
SKCA-BR116490396364903963single base substitutionATupstream_gene_variant
SKCA-BR116490495064904950single base substitutionCTupstream_gene_variant
SKCA-BR116490587664905876insertion of <=200bp-AAAAACAAAACupstream_gene_variant
SKCM-US116489198864891988single base substitutionCTdownstream_gene_variant
SKCM-US116489198864891988single base substitutionCTintron_variant
SKCM-US116489301864893018single base substitutionCTdownstream_gene_variant
SKCM-US116489301864893018single base substitutionCTintron_variant
SKCM-US116489593964895939single base substitutionTCdownstream_gene_variant
SKCM-US116489593964895939single base substitutionTCexon_variant
SKCM-US116489593964895939single base substitutionTCintron_variant
SKCM-US116489593964895939single base substitutionTCmissense_variantE538G1613A>G
SKCM-US116489593964895939single base substitutionTCmissense_variantE589G1766A>G
SKCM-US116489593964895939single base substitutionTCmissense_variantE590G1769A>G
SKCM-US116489731764897317single base substitutionCTdownstream_gene_variant
SKCM-US116489731764897317single base substitutionCTexon_variant
SKCM-US116489731764897317single base substitutionCTsynonymous_variantE441E1323G>A
SKCM-US116489731764897317single base substitutionCTsynonymous_variantE492E1476G>A
SKCM-US116489731764897317single base substitutionCTsynonymous_variantE493E1479G>A
SKCM-US116489778864897788single base substitutionGAdownstream_gene_variant
SKCM-US116489778864897788single base substitutionGAexon_variant
SKCM-US116489778864897788single base substitutionGAmissense_variantP339L1016C>T
SKCM-US116489778864897788single base substitutionGAmissense_variantP390L1169C>T
SKCM-US116489778864897788single base substitutionGAupstream_gene_variant
SKCM-US116489978564899785single base substitutionGAdownstream_gene_variant
SKCM-US116489978564899785single base substitutionGAexon_variant
SKCM-US116489978564899785single base substitutionGAintron_variant
SKCM-US116489978564899785single base substitutionGAsplice_region_variant
SKCM-US116489978564899785single base substitutionGAsynonymous_variantF140F420C>T
SKCM-US116489978564899785single base substitutionGAsynonymous_variantF155F465C>T
SKCM-US116489978564899785single base substitutionGAsynonymous_variantF95F285C>T
SKCM-US116489978564899785single base substitutionGAupstream_gene_variant
SKCM-US116489981164899811single base substitutionGAdownstream_gene_variant
SKCM-US116489981164899811single base substitutionGAexon_variant
SKCM-US116489981164899811single base substitutionGAintron_variant
SKCM-US116489981164899811single base substitutionGAmissense_variantL132F394C>T
SKCM-US116489981164899811single base substitutionGAmissense_variantL147F439C>T
SKCM-US116489981164899811single base substitutionGAmissense_variantL87F259C>T
SKCM-US116489981164899811single base substitutionGAupstream_gene_variant
SKCM-US116490047464900474single base substitutionGAexon_variant
SKCM-US116490047464900474single base substitutionGAsynonymous_variantF39F117C>T
SKCM-US116490047464900474single base substitutionGAsynonymous_variantF84F252C>T
SKCM-US116490047464900474single base substitutionGAsynonymous_variantF99F297C>T
SKCM-US116490047464900474single base substitutionGAupstream_gene_variant
SKCM-US116490049264900492single base substitutionGAexon_variant
SKCM-US116490049264900492single base substitutionGAsynonymous_variantT33T99C>T
SKCM-US116490049264900492single base substitutionGAsynonymous_variantT78T234C>T
SKCM-US116490049264900492single base substitutionGAsynonymous_variantT93T279C>T
SKCM-US116490049264900492single base substitutionGAupstream_gene_variant
SKCM-US116490095264900952single base substitutionGAexon_variant
SKCM-US116490095264900952single base substitutionGAmissense_variantP41S121C>T
SKCM-US116490095264900952single base substitutionGAupstream_gene_variant
STAD-US116488989064889890single base substitutionGAdownstream_gene_variant
STAD-US116488989064889890single base substitutionGAexon_variant
STAD-US116489301664893016single base substitutionGAdownstream_gene_variant
STAD-US116489301664893016single base substitutionGAintron_variant
STAD-US116489304464893044deletion of <=200bpG-downstream_gene_variant
STAD-US116489304464893044deletion of <=200bpG-intron_variant
STAD-US116489306264893062single base substitutionGAdownstream_gene_variant
STAD-US116489306264893062single base substitutionGAintron_variant
STAD-US116489323364893233single base substitutionGAdownstream_gene_variant
STAD-US116489323364893233single base substitutionGAintron_variant
STAD-US116489731364897313single base substitutionGTdownstream_gene_variant
STAD-US116489731364897313single base substitutionGTexon_variant
STAD-US116489731364897313single base substitutionGTmissense_variantH443N1327C>A
STAD-US116489731364897313single base substitutionGTmissense_variantH494N1480C>A
STAD-US116489731364897313single base substitutionGTmissense_variantH495N1483C>A
STAD-US116489750664897508deletion of <=200bpGGA-disruptive_inframe_deletionPP406P
STAD-US116489750664897508deletion of <=200bpGGA-disruptive_inframe_deletionPP457P
STAD-US116489750664897508deletion of <=200bpGGA-disruptive_inframe_deletionPP458P
STAD-US116489750664897508deletion of <=200bpGGA-downstream_gene_variant
STAD-US116489750664897508deletion of <=200bpGGA-exon_variant
STAD-US116489750664897508deletion of <=200bpGGA-upstream_gene_variant
STAD-US116489764864897648single base substitutionCTdownstream_gene_variant
STAD-US116489764864897648single base substitutionCTexon_variant
STAD-US116489764864897648single base substitutionCTsplice_acceptor_variant
STAD-US116489764864897648single base substitutionCTsplice_region_variant
STAD-US116489764864897648single base substitutionCTupstream_gene_variant
STAD-US116489779164897791single base substitutionCGdownstream_gene_variant
STAD-US116489779164897791single base substitutionCGexon_variant
STAD-US116489779164897791single base substitutionCGmissense_variantG338A1013G>C
STAD-US116489779164897791single base substitutionCGmissense_variantG389A1166G>C
STAD-US116489779164897791single base substitutionCGupstream_gene_variant
STAD-US116489975464899754single base substitutionGT3_prime_UTR_variant
STAD-US116489975464899754single base substitutionGTdownstream_gene_variant
STAD-US116489975464899754single base substitutionGTexon_variant
STAD-US116489975464899754single base substitutionGTintron_variant
STAD-US116489975464899754single base substitutionGTmissense_variantR106S316C>A
STAD-US116489975464899754single base substitutionGTmissense_variantR151S451C>A
STAD-US116489975464899754single base substitutionGTmissense_variantR166S496C>A
STAD-US116489975464899754single base substitutionGTupstream_gene_variant
STAD-US116490046664900466single base substitutionCTexon_variant
STAD-US116490046664900466single base substitutionCTmissense_variantR102H305G>A
STAD-US116490046664900466single base substitutionCTmissense_variantR42H125G>A
STAD-US116490046664900466single base substitutionCTmissense_variantR87H260G>A
STAD-US116490046664900466single base substitutionCTupstream_gene_variant
THCA-SA116488908564889085single base substitutionGAdownstream_gene_variant
UCEC-US116488427664884276single base substitutionGAdownstream_gene_variant
UCEC-US116488440664884406single base substitutionGCdownstream_gene_variant
UCEC-US116488908164889081single base substitutionTGdownstream_gene_variant
UCEC-US116488927764889277single base substitutionGTexon_variant
UCEC-US116489301664893016single base substitutionGAdownstream_gene_variant
UCEC-US116489301664893016single base substitutionGAintron_variant
UCEC-US116489727364897273single base substitutionCTdownstream_gene_variant
UCEC-US116489727364897273single base substitutionCTexon_variant
UCEC-US116489727364897273single base substitutionCTmissense_variantR456H1367G>A
UCEC-US116489727364897273single base substitutionCTmissense_variantR507H1520G>A
UCEC-US116489727364897273single base substitutionCTmissense_variantR508H1523G>A
UCEC-US116489759164897591single base substitutionTCdownstream_gene_variant
UCEC-US116489759164897591single base substitutionTCexon_variant
UCEC-US116489759164897591single base substitutionTCmissense_variantT379A1135A>G
UCEC-US116489759164897591single base substitutionTCmissense_variantT430A1288A>G
UCEC-US116489759164897591single base substitutionTCmissense_variantT431A1291A>G
UCEC-US116489759164897591single base substitutionTCupstream_gene_variant
UCEC-US116489784464897844single base substitutionCAdownstream_gene_variant
UCEC-US116489784464897844single base substitutionCAexon_variant
UCEC-US116489784464897844single base substitutionCAmissense_variantQ320H960G>T
UCEC-US116489784464897844single base substitutionCAmissense_variantQ371H1113G>T
UCEC-US116489784464897844single base substitutionCAupstream_gene_variant
UCEC-US116489850364898503single base substitutionGA3_prime_UTR_variant
UCEC-US116489850364898503single base substitutionGAdownstream_gene_variant
UCEC-US116489850364898503single base substitutionGAexon_variant
UCEC-US116489850364898503single base substitutionGAmissense_variantP217S649C>T
UCEC-US116489850364898503single base substitutionGAmissense_variantP226S676C>T
UCEC-US116489850364898503single base substitutionGAmissense_variantP277S829C>T
UCEC-US116489850364898503single base substitutionGAupstream_gene_variant
UCEC-US116489974864899748single base substitutionCT3_prime_UTR_variant
UCEC-US116489974864899748single base substitutionCTdownstream_gene_variant
UCEC-US116489974864899748single base substitutionCTexon_variant
UCEC-US116489974864899748single base substitutionCTintron_variant
UCEC-US116489974864899748single base substitutionCTmissense_variantA108T322G>A
UCEC-US116489974864899748single base substitutionCTmissense_variantA153T457G>A
UCEC-US116489974864899748single base substitutionCTmissense_variantA168T502G>A
UCEC-US116489974864899748single base substitutionCTupstream_gene_variant
UCEC-US116490021164900211single base substitutionCTexon_variant
UCEC-US116490021164900211single base substitutionCTintron_variant
UCEC-US116490021164900211single base substitutionCTmissense_variantR125H374G>A
UCEC-US116490021164900211single base substitutionCTmissense_variantR140H419G>A
UCEC-US116490021164900211single base substitutionCTmissense_variantR80H239G>A
UCEC-US116490021164900211single base substitutionCTupstream_gene_variant
UCEC-US116490098564900985single base substitutionATexon_variant
UCEC-US116490098564900985single base substitutionATmissense_variantY30N88T>A
UCEC-US116490098564900985single base substitutionATupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
PTC-77CCOSM4146096c.982A>Cp.T328PSubstitution - Missense11:65130783-65130783-
TCGA-EE-A29E-06COSM3451708c.297C>Tp.F99FSubstitution - coding silent11:65133003-65133003-
T3080COSM930340c.419G>Ap.R140HSubstitution - Missense11:65132740-65132740-
TCGA-B0-5098-01COSM1492651c.762G>Ap.Q254QSubstitution - coding silent11:65131194-65131194-
BN27TCOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
MedB-1COSM5621951c.71A>Gp.Y24CSubstitution - Missense11:65133531-65133531-
T3118COSM4731792c.238C>Tp.R80CSubstitution - Missense11:65133062-65133062-
HCC92COSM1604999c.1508G>Tp.R503LSubstitution - Missense11:65129816-65129816-
TCGA-EE-A29E-06COSM3451707c.439C>Tp.L147FSubstitution - Missense11:65132340-65132340-
8069319COSM3769401c.1407T>Gp.F469LSubstitution - Missense11:65130003-65130003-
CAL27COSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
407COSM4430276c.1035C>Tp.P345PSubstitution - coding silent11:65130730-65130730-
TCGA-39-5037-01COSM690052c.1076C>Tp.P359LSubstitution - Missense11:65130689-65130689-
LP6007422-DNA_A01COSM4409893c.1546G>Ap.A516TSubstitution - Missense11:65129778-65129778-
90273COSM330243c.1011G>Ap.S337SSubstitution - coding silent11:65130754-65130754-
HCC92COSM1604998c.1509G>Tp.R503RSubstitution - coding silent11:65129815-65129815-
489COSM3723780c.1383G>Tp.M461ISubstitution - Missense11:65130027-65130027-
WA16COSM241832c.1436C>Tp.A479VSubstitution - Missense11:65129888-65129888-
tumor_4120193COSM3952854c.133-2A>Gp.?Unknown11:65133254-65133254-
631092COSM326617c.289G>Cp.D97HSubstitution - Missense11:65133011-65133011-
TCGA-KK-A5A1-01COSM4392075c.1468C>Gp.R490GSubstitution - Missense11:65129856-65129856-
TCGA-AP-A059-01COSM129577c.1113G>Tp.Q371HSubstitution - Missense11:65130372-65130372-
93VU147TCOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
HCC131TCOSM1605000c.1080A>Cp.P360PSubstitution - coding silent11:65130685-65130685-
T3255COSM4731790c.1507C>Tp.R503WSubstitution - Missense11:65129817-65129817-
TCGA-AG-A002-01COSM263949c.1740G>Ap.R580RSubstitution - coding silent11:65128570-65128570-
TCGA-C5-A2LV-01COSM4827309c.1207G>Tp.A403SSubstitution - Missense11:65130278-65130278-
PTC-70CCOSM1605000c.1080A>Cp.P360PSubstitution - coding silent11:65130685-65130685-
PTC-70CCOSM4146095c.1065T>Cp.P355PSubstitution - coding silent11:65130700-65130700-
PTC-70CCOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
T3724COSM4731789c.1603delCp.R535fs*>83Deletion - Frameshift11:65128707-65128707-
TCGA-13-1498-01COSM76660c.1522C>Tp.R508CSubstitution - Missense11:65129802-65129802-
SC_9047COSM5567887c.793T>Cp.S265PSubstitution - Missense11:65131163-65131163-
HCC119TCOSM3666521c.1831C>Ap.L611MSubstitution - Missense11:65128405-65128405-
TCGA-F1-6875-01COSM4035339c.1483C>Ap.H495NSubstitution - Missense11:65129841-65129841-
HCC98COSM1605002c.379A>Gp.M127VSubstitution - Missense11:65132780-65132780-
587376COSM930340c.419G>Ap.R140HSubstitution - Missense11:65132740-65132740-
CCK81COSM2165153c.1832T>Cp.L611PSubstitution - Missense11:65128404-65128404-
LUAD-F00018COSM338970c.368G>Tp.R123LSubstitution - Missense11:65132932-65132932-
TCGA-61-1903-01COSM1322260c.598C>Tp.Q200*Substitution - Nonsense11:65131530-65131530-
UM-SCC-17BCOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
PTC-46CCOSM4146095c.1065T>Cp.P355PSubstitution - coding silent11:65130700-65130700-
WSU-HN12COSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
tumor_4116738COSM1161007c.856G>Ap.A286TSubstitution - Missense11:65131005-65131005-
LC_S19COSM1190843c.1646delCp.T549fs*>69Deletion - Frameshift11:65128664-65128664-
TARGET-20-PANDER-09A-02DCOSM5487396c.552G>Ap.M184ISubstitution - Missense11:65131576-65131576-
TCGA-D5-6928-01COSM270283c.1763G>Ap.G588DSubstitution - Missense11:65128473-65128473-
TCGA-AP-A05A-01COSM930341c.88T>Ap.Y30NSubstitution - Missense11:65133514-65133514-
HCC32TCOSM1605003c.104A>Gp.Y35CSubstitution - Missense11:65133498-65133498-
TCGA-39-5027-01COSM690053c.1755G>Ap.E585ESubstitution - coding silent11:65128481-65128481-
BD124TCOSM5492818c.78delAp.K26fs*11Deletion - Frameshift11:65133524-65133524-
TCGA-AA-3715-01COSM270283c.1763G>Ap.G588DSubstitution - Missense11:65128473-65128473-
TCGA-AP-A059-01COSM930336c.1523G>Ap.R508HSubstitution - Missense11:65129801-65129801-
2292382COSM3810014c.539T>Cp.I180TSubstitution - Missense11:65131589-65131589-
PTC-46CCOSM1605000c.1080A>Cp.P360PSubstitution - coding silent11:65130685-65130685-
61COSM5739311c.1816C>Tp.R606CSubstitution - Missense11:65128420-65128420-
TCGA-B5-A11E-01COSM930337c.1291A>Gp.T431ASubstitution - Missense11:65130119-65130119-
SKNEP1COSM4574651c.286C>Ap.R96RSubstitution - coding silent11:65133014-65133014-
BL42COSM3728341c.941+2T>Ap.?Unknown11:65130918-65130918-
PTC-88CCOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
TCGA-B8-4143-01COSM467221c.1484A>Gp.H495RSubstitution - Missense11:65129840-65129840-
HCC98TCOSM1605002c.379A>Gp.M127VSubstitution - Missense11:65132780-65132780-
5_RESISTANTCOSM1724960c.1652_1654delTTGp.V551delVDeletion - In frame11:65128656-65128658-
TCGA-ER-A19D-06COSM3451709c.279C>Tp.T93TSubstitution - coding silent11:65133021-65133021-
TCGA-AP-A056-01COSM930340c.419G>Ap.R140HSubstitution - Missense11:65132740-65132740-
214COSM4424255c.532-3C>Tp.?Unknown11:65131599-65131599-
ORL-48COSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
UM-SCC-2COSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
587376COSM1228364c.1078C>Ap.P360TSubstitution - Missense11:65130687-65130687-
587278COSM1228363c.85T>Cp.F29LSubstitution - Missense11:65133517-65133517-
060-0123-01TDCOSM5419185c.133-3T>Gp.?Unknown11:65133255-65133255-
NOKSICOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
PTC-46CCOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
TCGA-AP-A051-01COSM930339c.502G>Ap.A168TSubstitution - Missense11:65132277-65132277-
TCGA-CG-4465-01COSM4035341c.1166G>Cp.G389ASubstitution - Missense11:65130319-65130319-
APA12COSM1717700c.973A>Cp.T325PSubstitution - Missense11:65130792-65130792-
TCGA-BF-A3DM-01COSM3869897c.1769A>Gp.E590GSubstitution - Missense11:65128467-65128467-
CSCC-29-TCOSM4465288c.1375C>Tp.P459SSubstitution - Missense11:65130035-65130035-
S00472COSM5657654c.1385G>Tp.G462VSubstitution - Missense11:65130025-65130025-
TCGA-BR-A4QL-01COSM4035340c.1235-1G>Ap.?Unknown11:65130176-65130176-
PTC-73CCOSM4146094c.1066G>Cp.A356PSubstitution - Missense11:65130699-65130699-
TCGA-B6-A0X5-01COSM429587c.1339G>Cp.E447QSubstitution - Missense11:65130071-65130071-
TCGA-AA-3662-01COSM330243c.1011G>Ap.S337SSubstitution - coding silent11:65130754-65130754-
T3090COSM4731791c.788T>Cp.I263TSubstitution - Missense11:65131168-65131168-
TCGA-AA-3681-01COSM268095c.566T>Gp.F189CSubstitution - Missense11:65131562-65131562-
TCGA-FW-A3R5-06COSM544559c.465C>Tp.F155FSubstitution - coding silent11:65132314-65132314-
TCGA-HC-7738-01COSM4392553c.128T>Gp.M43RSubstitution - Missense11:65133474-65133474-
TCGA-CC-5258-01COSM4933343c.132A>Gp.A44ASubstitution - coding silent11:65133470-65133470-
OSCC-GB_00140111COSM3710387c.1664C>Ap.S555YSubstitution - Missense11:65128646-65128646-
TCGA-A2-A0T5-01COSM3810013c.1576A>Cp.T526PSubstitution - Missense11:65129748-65129748-
tumor_4194891COSM3356230c.173G>Ap.G58DSubstitution - Missense11:65133212-65133212-
BN49COSM1605001c.562A>Gp.I188VSubstitution - Missense11:65131566-65131566-
TCGA-BR-8487-01COSM4035342c.305G>Ap.R102HSubstitution - Missense11:65132995-65132995-
TCGA-DC-6683-01COSM5077239c.326T>Cp.L109PSubstitution - Missense11:65132974-65132974-
NB-2144COSM1288318c.1603_1604insCp.R535fs*10Insertion - Frameshift11:65128706-65128707-
PTC-54CCOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
TCGA-F4-6570-01COSM1355892c.1695G>Ap.T565TSubstitution - coding silent11:65128615-65128615-
TCGA-AP-A059-01COSM930338c.829C>Tp.P277SSubstitution - Missense11:65131032-65131032-
388COSM4427375c.789C>Ap.I263ISubstitution - coding silent11:65131167-65131167-
PTC-54CCOSM1605000c.1080A>Cp.P360PSubstitution - coding silent11:65130685-65130685-
BN49TCOSM1605001c.562A>Gp.I188VSubstitution - Missense11:65131566-65131566-
HCA7COSM4629804c.1603C>Ap.R535RSubstitution - coding silent11:65128707-65128707-
594-01-1TDCOSM5419468c.139T>Ap.Y47NSubstitution - Missense11:65133246-65133246-
TCGA-DD-A4NH-01COSM4940938c.346T>Gp.F116VSubstitution - Missense11:65132954-65132954-
TCGA-D3-A51T-06COSM3451706c.1169C>Tp.P390LSubstitution - Missense11:65130316-65130316-
CRC-16TCOSM5452962c.1597C>Gp.P533ASubstitution - Missense11:65128713-65128713-
LUAD-F00257COSM340036c.184G>Ap.G62SSubstitution - Missense11:65133201-65133201-
PTC-73CCOSM4146095c.1065T>Cp.P355PSubstitution - coding silent11:65130700-65130700-
LUAD-CHTN-MAD04-00674COSM357820c.26C>Ap.A9ESubstitution - Missense11:65133576-65133576-
2292382COSM4610161c.631T>Gp.Y211DSubstitution - Missense11:65131497-65131497-
HCC92TCOSM1604999c.1508G>Tp.R503LSubstitution - Missense11:65129816-65129816-
pfg416TCOSM4756561c.253G>Ap.V85ISubstitution - Missense11:65133047-65133047-
TCGA-AZ-6598-01COSM1355896c.1184C>Ap.P395QSubstitution - Missense11:65130301-65130301-
PTC-73CCOSM3746252c.1073A>Cp.H358PSubstitution - Missense11:65130692-65130692-
PTC-54CCOSM4146095c.1065T>Cp.P355PSubstitution - coding silent11:65130700-65130700-
HN_62739COSM129577c.1113G>Tp.Q371HSubstitution - Missense11:65130372-65130372-
HCC32COSM1605003c.104A>Gp.Y35CSubstitution - Missense11:65133498-65133498-
HCC119COSM3666521c.1831C>Ap.L611MSubstitution - Missense11:65128405-65128405-
TCGA-A8-A09Z-01COSM3810014c.539T>Cp.I180TSubstitution - Missense11:65131589-65131589-
YUBOOCOSM1704235c.466G>Ap.V156ISubstitution - Missense11:65132313-65132313-
14TCOSM3710387c.1664C>Ap.S555YSubstitution - Missense11:65128646-65128646-
BN42COSM1604997c.1813C>Gp.R605GSubstitution - Missense11:65128423-65128423-
8066491COSM3769402c.525C>Gp.G175GSubstitution - coding silent11:65132254-65132254-
PR-09-3687COSM247688c.479A>Gp.Y160CSubstitution - Missense11:65132300-65132300-
SJHGG031_DCOSM4970227c.1175C>Tp.P392LSubstitution - Missense11:65130310-65130310-
PTC-77CCOSM4146095c.1065T>Cp.P355PSubstitution - coding silent11:65130700-65130700-
TCGA-CI-6620-01COSM5075982c.758+8C>Tp.?Unknown11:65131266-65131266-
HCC132TCOSM1605000c.1080A>Cp.P360PSubstitution - coding silent11:65130685-65130685-
U2940COSM5621950c.1124C>Tp.P375LSubstitution - Missense11:65130361-65130361-
HCC92TCOSM1604998c.1509G>Tp.R503RSubstitution - coding silent11:65129815-65129815-
214COSM4424254c.558C>Ap.L186LSubstitution - coding silent11:65131570-65131570-
TCGA-AA-3492-01COSM1355898c.755T>Cp.M252TSubstitution - Missense11:65131277-65131277-
PTC-70CCOSM4146094c.1066G>Cp.A356PSubstitution - Missense11:65130699-65130699-
T3152COSM4731793c.98_99delTGp.V33fs*65Deletion - Frameshift11:65133503-65133504-
TCGA-AA-3663-01COSM3687513c.1020G>Ap.A340ASubstitution - coding silent11:65130745-65130745-
214COSM1475739c.639C>Gp.L213LSubstitution - coding silent11:65131489-65131489-
CCK81COSM2165154c.1830G>Ap.K610KSubstitution - coding silent11:65128406-65128406-
PT13COSM4465288c.1375C>Tp.P459SSubstitution - Missense11:65130035-65130035-
CSCC-27-TCOSM4479131c.229C>Tp.L77FSubstitution - Missense11:65133071-65133071-
S00936COSM315754c.1101delCp.N368fs*117Deletion - Frameshift11:65130664-65130664-
TCGA-D3-A3C7-06COSM3451710c.121C>Tp.P41SSubstitution - Missense11:65133481-65133481-
BN42TCOSM1604997c.1813C>Gp.R605GSubstitution - Missense11:65128423-65128423-
TCGA-G2-A3VY-01COSM3791793c.1773G>Ap.E591ESubstitution - coding silent11:65128463-65128463-
TCGA-EE-A2GJ-06COSM3451705c.1479G>Ap.E493ESubstitution - coding silent11:65129845-65129845-
LC_C4COSM1188297c.1813C>Tp.R605WSubstitution - Missense11:65128423-65128423-
PTC-73CCOSM1605000c.1080A>Cp.P360PSubstitution - coding silent11:65130685-65130685-
TCGA-EI-6513-01COSM3416114c.652T>Cp.F218LSubstitution - Missense11:65131476-65131476-
HX19TCOSM1604997c.1813C>Gp.R605GSubstitution - Missense11:65128423-65128423-
TCGA-HU-A4GT-01COSM544560c.496C>Ap.R166SSubstitution - Missense11:65132283-65132283-
594-01-1TDCOSM5419466c.225+3A>Gp.?Unknown11:65133157-65133157-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.7585911q13608046
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACMissensep.F189Cc.566T>G1164899033COREAD
ACMissensep.M43Rc.128T>G1164900945PRAD
AGSynonymousp.P355Pc.1065T>C1164898172HNSC
AGSynonymousp.P355Pc.1065T>C1164898172STAD
ATMissensep.Y30Nc.88T>A1164900985UCEC
CAMissensep.G16Vc.47G>T1164901026CM
CAMissensep.M461Ic.1383G>T1164897499HNSC
CAMissensep.Q371Hc.1113G>T1164897844HNSC
-CFrameshiftp.A451Cfs*46c.1346dupG1164897536RCCC
CGMissensep.D97Hc.289G>C1164900482SCLC
CGMissensep.E447Qc.1339G>C1164897543BRCA
CGMissensep.G389Ac.1166G>C1164897791STAD
CTMissensep.A286Tc.856G>A1164898476DLBCL
CTMissensep.G58Dc.173G>A1164900683DLBCL
CTSynonymousp.E493Ec.1479G>A1164897317CM
CTSynonymousp.E585Ec.1755G>A1164895953LUSC
GAIntronicSNV.c.1409-6C>T1164897393CM
GAIntronicSNV.c.427+45C>T1164900158CM
GAMissensep.P359Lc.1076C>T1164898161LUSC
GAMissensep.P41Sc.121C>T1164900952CM
GAMissensep.R508Cc.1522C>T1164897274OV
GASynonymousp.F155Fc.465C>T1164899785LUAD
GASynonymousp.F240Fc.720C>T1164898783CM
GASynonymousp.I48Ic.144C>T1164900712CM
GASynonymousp.T93Tc.279C>T1164900492CM
GCMissensep.L217Vc.649C>G1164898950COREAD
GCMissensep.R490Gc.1468C>G1164897328PRAD
GCSynonymousp.L213Lc.639C>G1164898960BRCA
G-Frameshiftp.N368Tfs*117c.1101delC1164898136SCLC
GGAAMissensep.L77Fc.228_229delinsTT1164900542CM
GGTTMissensep.P346Kc.1036_1037delinsAA1164898200CM
TCMissensep.E590Gc.1769A>G1164895939CM
TCMissensep.H495Rc.1484A>G1164897312RCCC