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HCC-1599 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

532 mutations reported
150 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
MKL2ENSG00000186260ENST00000341243p.I416Nc.1247T>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.Q431Qc.1293G>ASubstitution - coding silent
CFHR1ENSG00000244414ENST00000320493p.A296Ac.888T>ASubstitution - coding silent
ENST00000293218_v68p.S569Rc.1705A>CSubstitution - Missense
DNAI1ENSG00000122735ENST00000242317p.G605Gc.1815G>ASubstitution - coding silent
GP6ENSG00000088053ENST00000310373p.S518Ac.1552T>GSubstitution - Missense
LRCH3ENSG00000186001ENST00000438796p.?c.408-1G>TUnknown
SCLT1ENSG00000151466ENST00000281142p.T145fs*27c.427_428insAInsertion - Frameshift
COL6A6ENSG00000206384ENST00000358511p.S255Cc.763A>TSubstitution - Missense
POTEFENSG00000196604ENST00000409914p.E138Qc.412G>CSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.V98Ic.292G>ASubstitution - Missense
LGALS4ENSG00000171747ENST00000307751p.?c.659+8G>AUnknown
DHX16ENSG00000204560ENST00000376442p.?c.2499-9C>TUnknown
HMGCS2ENSG00000134240ENST00000369406p.R274Lc.821G>TSubstitution - Missense
SEC24CENSG00000176986ENST00000345254p.V704Vc.2112G>TSubstitution - coding silent
PIKFYVEENSG00000115020ENST00000264380p.H1364Dc.4090C>GSubstitution - Missense
UNKENSG00000132478ENST00000293218p.S493Rc.1477A>CSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.S853Pc.2557T>CSubstitution - Missense
P2RY14ENSG00000174944ENST00000309170p.K211Kc.633G>ASubstitution - coding silent
TRABD2AENSG00000186854ENST00000409520p.V187Lc.559G>CSubstitution - Missense
ENST00000272666p.G920Sc.2758G>ASubstitution - Missense
ZNF668ENSG00000167394ENST00000539836p.G309Sc.925G>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.L68fs*24c.203delTDeletion - Frameshift
DAPK1ENSG00000196730ENST00000469640p.L68fs*24c.203delTDeletion - Frameshift
KIAA1109ENSG00000138688ENST00000455637p.P1495Lc.4484C>TSubstitution - Missense
HERC6ENSG00000138642ENST00000273960p.F117Lc.351C>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.A466Ac.1398T>ASubstitution - coding silent
SRGAP3ENSG00000196220ENST00000383836p.L623Ic.1867C>ASubstitution - Missense
FCHO1ENSG00000130475ENST00000252771p.S196Sc.588A>CSubstitution - coding silent
PTGFRNENSG00000134247ENST00000393203p.P816Pc.2448C>GSubstitution - coding silent
KRT25ENSG00000204897ENST00000312150p.D138Yc.412G>TSubstitution - Missense
ACY1ENSG00000243989ENST00000458031p.E471Dc.1413G>CSubstitution - Missense
FBXO7ENSG00000100225ENST00000266087p.W134*c.402G>ASubstitution - Nonsense
SULT1C3ENSG00000196228ENST00000376700p.L145Lc.433C>TSubstitution - coding silent
PSORS1C2ENSG00000204538ENST00000259845p.G9Gc.27G>ASubstitution - coding silent
FLOT1ENSG00000137312ENST00000418160p.Q46Pc.137A>CSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.M116Ic.348G>CSubstitution - Missense
FAM193BENSG00000146067ENST00000443375p.K90_H99del10c.268_297del30Deletion - In frame
FOXP2ENSG00000128573ENST00000393500p.Q74*c.220C>TSubstitution - Nonsense
OXSMENSG00000151093ENST00000280701p.F106Ic.316T>ASubstitution - Missense
TRMT10AENSG00000145331ENST00000394876p.P82Qc.245C>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.R701Pc.2102G>CSubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.V554Mc.1660G>ASubstitution - Missense
MARCH10ENSG00000173838ENST00000311269p.R316Tc.947G>CSubstitution - Missense
CST4ENSG00000101441ENST00000217423p.T77Nc.230C>ASubstitution - Missense
MEFVENSG00000103313ENST00000219596p.L602Lc.1806G>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.L3766Fc.11298G>TSubstitution - Missense
GPR149ENSG00000174948ENST00000389740p.G181Rc.541G>CSubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.S588fs*4c.1753_1754insCInsertion - Frameshift
TRIOBPENSG00000100106ENST00000406386p.V172Ec.515T>ASubstitution - Missense
TOX2ENSG00000124191ENST00000413823p.R7Wc.19A>TSubstitution - Missense
ENST00000373263p.L479Ic.1435C>ASubstitution - Missense
XPO5ENSG00000124571ENST00000265351p.E1002Ec.3006G>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.?c.4104+7A>TUnknown
SEPHS2ENSG00000179918ENST00000478753p.G396Rc.1186G>ASubstitution - Missense
POLR3BENSG00000013503ENST00000228347p.K430Ec.1288A>GSubstitution - Missense
AGAP2ENSG00000135439ENST00000257897p.L481_R486>PIWc.1442_1456>CCATCTComplex - deletion inframe
ENST00000268134p.E1380Kc.4138G>ASubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.V182Lc.544G>TSubstitution - Missense
DPM1ENSG00000000419ENST00000371588p.R133Gc.397A>GSubstitution - Missense
UBA7ENSG00000182179ENST00000333486p.E175Dc.525A>TSubstitution - Missense
TOP2BENSG00000077097ENST00000435706p.Q1008fs*16c.3021_3027delTCAAACTDeletion - Frameshift
UXS1ENSG00000115652ENST00000409501p.S315Rc.945C>GSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.D137Yc.409G>TSubstitution - Missense
POTEFENSG00000196604ENST00000357462p.E138Qc.412G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.Q1927Kc.5779C>ASubstitution - Missense
SYKENSG00000165025ENST00000375751p.K363Nc.1089A>CSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.N1909Nc.5727C>TSubstitution - coding silent
STK32BENSG00000152953ENST00000282908p.K394Tc.1181A>CSubstitution - Missense
AFAP1L2ENSG00000169129ENST00000545353p.T806Pc.2416A>CSubstitution - Missense
NFIXENSG00000008441ENST00000585575p.P334Sc.1000C>TSubstitution - Missense
ENST00000254108_v70p.K312Qc.934A>CSubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.T2237Ac.6709A>GSubstitution - Missense
HSPA14ENSG00000187522ENST00000378372p.A85Vc.254C>TSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.S723Fc.2168C>TSubstitution - Missense
ESYT1ENSG00000139641ENST00000394048p.D535Yc.1603G>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.L2015Fc.6045G>CSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.R409Tc.1226G>CSubstitution - Missense
OSBP2ENSG00000184792ENST00000403222p.V232Mc.694G>ASubstitution - Missense
IL1R2ENSG00000115590ENST00000393414p.L359Lc.1077G>ASubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000465817p.R219Wc.655A>TSubstitution - Missense
ABHD10ENSG00000144827ENST00000273359p.M258Vc.772A>GSubstitution - Missense
EIF1ENSG00000173812ENST00000469257p.G101Ac.302G>CSubstitution - Missense
FAM134BENSG00000154153ENST00000306320p.L97Lc.291C>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.H2217Hc.6651C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.Q431Qc.1293G>ASubstitution - coding silent
TNS1ENSG00000079308ENST00000171887p.F1093Lc.3279C>ASubstitution - Missense
CFHENSG00000000971ENST00000367429p.G736Gc.2208A>GSubstitution - coding silent
ZNF668ENSG00000167394ENST00000394983p.G286Sc.856G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.P1223Pc.3669C>ASubstitution - coding silent
IFI16ENSG00000163565ENST00000368131p.S160Pc.478T>CSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.V845Vc.2535C>GSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.G701Gc.2103C>ASubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.L2015Fc.6045G>CSubstitution - Missense
YAP1ENSG00000137693ENST00000526343p.D329Ac.986A>CSubstitution - Missense
CSTF2TENSG00000177613ENST00000331173p.R456Kc.1367G>ASubstitution - Missense
SMG7ENSG00000116698ENST00000347615p.?c.62-9G>CUnknown
NOC2LENSG00000188976ENST00000327044p.H410Pc.1229A>CSubstitution - Missense
PDE4BENSG00000184588ENST00000423207p.L667Lc.2001G>ASubstitution - coding silent
KIF16BENSG00000089177ENST00000408042p.K772Tc.2315A>CSubstitution - Missense
ZNF507ENSG00000168813ENST00000355898p.L625Fc.1875G>CSubstitution - Missense
SNRNP200ENSG00000144028ENST00000323853p.T997Ic.2990C>TSubstitution - Missense
ENST00000360228_v70p.?c.6339+8C>TUnknown
KIF3BENSG00000101350ENST00000375712p.L328Lc.984G>CSubstitution - coding silent
ZNF850ENSG00000267041ENST00000591344p.R382Qc.1145G>ASubstitution - Missense
ENST00000332454p.R208Qc.623G>ASubstitution - Missense
ENST00000319379p.L4318fs*34c.12954_12965>TTComplex - frameshift
TRHRENSG00000174417ENST00000518632p.N244Yc.730A>TSubstitution - Missense
CAMK1GENSG00000008118ENST00000009105p.A443Tc.1327G>ASubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.K2396Ec.7186A>GSubstitution - Missense
PEX14ENSG00000142655ENST00000356607p.L134Lc.402C>TSubstitution - coding silent
ATP4AENSG00000105675ENST00000262623p.R1017Qc.3050G>ASubstitution - Missense
SFTPA2ENSG00000185303ENST00000372325p.P63Ac.187C>GSubstitution - Missense
AGAP2ENSG00000135439ENST00000547588p.L817_R822>PIWc.2450_2464>CCATCTComplex - deletion inframe
ENST00000356127p.P52Rc.155C>GSubstitution - Missense
ZMAT1ENSG00000166432ENST00000372782p.H145Nc.433C>ASubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.A468Vc.1403C>TSubstitution - Missense
UGT2A1ENSG00000173610ENST00000457664p.?c.1111+10T>AUnknown
MST1RENSG00000164078ENST00000296474p.T335Tc.1005T>GSubstitution - coding silent
FKBP15ENSG00000119321ENST00000238256p.Q840Qc.2520A>GSubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.P1160Ac.3478C>GSubstitution - Missense
IRF8ENSG00000140968ENST00000268638p.R81Kc.242G>ASubstitution - Missense
CRXENSG00000105392ENST00000221996p.S141Fc.422C>TSubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.T2166Ac.6496A>GSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.D1386_T1858del473c.4154_5572del1419Deletion - In frame
CSMD2ENSG00000121904ENST00000241312p.G661Gc.1983C>ASubstitution - coding silent
RGS18ENSG00000150681ENST00000367460p.L48Lc.144A>GSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.T536Ic.1607C>TSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.T1308Tc.3924C>TSubstitution - coding silent
LRCH3ENSG00000186001ENST00000425562p.?c.408-1G>TUnknown
PCLOENSG00000186472ENST00000333891p.Y2836*c.8508C>GSubstitution - Nonsense
MUC17ENSG00000169876ENST00000306151p.P2117Lc.6350C>TSubstitution - Missense
AK9ENSG00000155085ENST00000285397p.M98Ic.294G>CSubstitution - Missense
C7orf57ENSG00000164746ENST00000348904p.V26Mc.76G>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.I530fs*5c.1587_1588insCInsertion - Frameshift
NM_003829.1p.S1283Tc.3848G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3029Gc.9085A>GSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.R675Pc.2024G>CSubstitution - Missense
MCAMENSG00000076706ENST00000264036p.E607Kc.1819G>ASubstitution - Missense
FANCMENSG00000187790ENST00000267430p.P1722Sc.5164C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.673-2A>TUnknown
FBXO7ENSG00000100225ENST00000382058p.W55*c.165G>ASubstitution - Nonsense
C2orf16ENSG00000221843ENST00000408964p.H1815Yc.5443C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Y2767*c.8301C>GSubstitution - Nonsense
PCSK5ENSG00000099139ENST00000376752p.A793Ac.2379T>ASubstitution - coding silent
RFC4ENSG00000163918ENST00000392481p.E316*c.946G>TSubstitution - Nonsense
ABCA4ENSG00000198691ENST00000535735p.T224Mc.671C>TSubstitution - Missense
PDZD4ENSG00000067840ENST00000164640p.R39Cc.115C>TSubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.?c.940+4C>AUnknown
ENST00000368148p.R1074Rc.3222C>ASubstitution - coding silent
ADAM12ENSG00000148848ENST00000368679p.L792Fc.2376G>TSubstitution - Missense
FADDENSG00000168040ENST00000301838p.H73Nc.217C>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.K1517fs*23c.4550_4559del10Deletion - Frameshift
UNC13CENSG00000137766ENST00000260323p.?c.4104+7A>TUnknown
MMP16ENSG00000156103ENST00000286614p.F491Ic.1471T>ASubstitution - Missense
URB1ENSG00000142207ENST00000382751p.?c.2417-1G>AUnknown
PGRMC2ENSG00000164040ENST00000394276p.K217Kc.651G>ASubstitution - coding silent
CNOT1ENSG00000125107ENST00000317147p.L1286Fc.3856C>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.R219Wc.655A>TSubstitution - Missense
AK9ENSG00000155085ENST00000424296p.M98Ic.294G>CSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000314737p.S633Cc.1898C>GSubstitution - Missense
HIST1H2BMENSG00000196374ENST00000359465p.K35*c.103A>TSubstitution - Nonsense
TADA2AENSG00000108264ENST00000417170p.V98Ic.292G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.H2337Hc.7011C>TSubstitution - coding silent
UXS1ENSG00000115652ENST00000428048p.S159Rc.477C>GSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.V845Vc.2535C>GSubstitution - coding silent
MTA1ENSG00000182979ENST00000331320p.T476Mc.1427C>TSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.S183Yc.548C>ASubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.T224Mc.671C>TSubstitution - Missense
MFSD9ENSG00000135953ENST00000258436p.G59Ac.176G>CSubstitution - Missense
LIPEENSG00000079435ENST00000244289p.P146Qc.437C>ASubstitution - Missense
KAZNENSG00000189337ENST00000376030p.A28Ac.84C>GSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.A2065Pc.6193G>CSubstitution - Missense
SMG7ENSG00000116698ENST00000507469p.?c.62-9G>CUnknown
CASC1ENSG00000118307ENST00000320267p.I655Vc.1963A>GSubstitution - Missense
SMARCAL1ENSG00000138375ENST00000357276p.R617Qc.1850G>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.L68fs*24c.203delTDeletion - Frameshift
KIF4BENSG00000226650ENST00000435029p.K644Tc.1931A>CSubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.E374Qc.1120G>CSubstitution - Missense
HHATENSG00000054392ENST00000391905p.I460Tc.1379T>CSubstitution - Missense
NEBENSG00000183091ENST00000409198p.R3538Qc.10613G>ASubstitution - Missense
GPC1ENSG00000063660ENST00000264039p.A337Dc.1010C>ASubstitution - Missense
FAM210AENSG00000177150ENST00000322247p.V140Ec.419T>ASubstitution - Missense
BCANENSG00000132692ENST00000329117p.I408Vc.1222A>GSubstitution - Missense
OR4K17ENSG00000176230ENST00000315543p.F81Sc.242T>CSubstitution - Missense
OR56A1ENSG00000180934ENST00000316650p.S39Nc.116G>ASubstitution - Missense
MS4A14ENSG00000166928ENST00000300187p.K481Qc.1441A>CSubstitution - Missense
DACT1ENSG00000165617ENST00000335867p.S485Yc.1454C>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.P52Rc.155C>GSubstitution - Missense
NELFCDENSG00000101158ENST00000344018p.L119Fc.357G>CSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.R219Wc.655A>TSubstitution - Missense
SCLT1ENSG00000151466ENST00000281142p.T145fs*27c.427_428insAInsertion - Frameshift
ASIC5ENSG00000256394ENST00000537611p.P31Lc.92C>TSubstitution - Missense
SYKENSG00000165025ENST00000375754p.K386Nc.1158A>CSubstitution - Missense
ACTRT3ENSG00000184378ENST00000330368p.E267Kc.799G>ASubstitution - Missense
PSMC4ENSG00000013275ENST00000157812p.Y41*c.123C>GSubstitution - Nonsense
CAMSAP2ENSG00000118200ENST00000236925p.S834Sc.2502A>TSubstitution - coding silent
IDSENSG00000010404ENST00000370443p.L259Vc.775C>GSubstitution - Missense
GIMAP1ENSG00000213203ENST00000307194p.V166Ec.497T>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.Y2836*c.8508C>GSubstitution - Nonsense
ANKK1ENSG00000170209ENST00000303941p.K347Tc.1040A>CSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.A1347Sc.4039G>TSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.?c.2417-1G>AUnknown
GARTENSG00000159131ENST00000381839p.G772Vc.2315G>TSubstitution - Missense
GREB1LENSG00000141449ENST00000424526p.S1170Sc.3510C>TSubstitution - coding silent
UTP14CENSG00000253797ENST00000521776p.H192delc.574_576delCATDeletion - In frame
ENST00000348077p.K250Mc.749A>TSubstitution - Missense
NM_172217.1p.I379Mc.1137C>GSubstitution - Missense
S100A11ENSG00000163191ENST00000271638p.R12Rc.36G>ASubstitution - coding silent
NAV2ENSG00000166833ENST00000360655p.S894Cc.2680A>TSubstitution - Missense
FGD3ENSG00000127084ENST00000375482p.G519Rc.1555G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.L53Lc.159G>TSubstitution - coding silent
KIAA0355ENSG00000166398ENST00000299505p.E430Ec.1290G>ASubstitution - coding silent
ICOSLGENSG00000160223ENST00000407780p.D77Gc.230A>GSubstitution - Missense
NFIXENSG00000008441ENST00000360105p.P342Sc.1024C>TSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.H1815Yc.5443C>TSubstitution - Missense
TRABD2AENSG00000186854ENST00000335459p.V187Lc.559G>CSubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.D404Yc.1210G>TSubstitution - Missense
WNT2ENSG00000105989ENST00000265441p.N295_D302delNLTSRGMDc.884_907del24Deletion - In frame
GPR101ENSG00000165370ENST00000298110p.G302Ac.905G>CSubstitution - Missense
PCSK5ENSG00000099139ENST00000455778p.A12Ac.36T>ASubstitution - coding silent
KCNC2ENSG00000166006ENST00000298972p.T464fs*12c.1389_1390insAInsertion - Frameshift
C1orf101ENSG00000179397ENST00000366534p.T653Ic.1958C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.S1629*c.4886C>GSubstitution - Nonsense
PIK3AP1ENSG00000155629ENST00000339364p.K247Nc.741G>TSubstitution - Missense
CPEB1ENSG00000214575ENST00000568128p.G228Rc.682G>CSubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.R214Hc.641G>ASubstitution - Missense
TMPRSS9ENSG00000178297ENST00000332578p.I628Mc.1884C>GSubstitution - Missense
UXS1ENSG00000115652ENST00000283148p.S320Rc.960C>GSubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.S272Cc.814A>TSubstitution - Missense
IL15ENSG00000164136ENST00000320650p.L63Lc.189T>CSubstitution - coding silent
RNF208ENSG00000212864ENST00000392827p.T91Pc.271A>CSubstitution - Missense
CXXC5ENSG00000171604ENST00000302517p.I65Ic.195C>TSubstitution - coding silent
FBXO27ENSG00000161243ENST00000292853p.G268Ac.803G>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.?c.673-2A>TUnknown
TENM1ENSG00000009694ENST00000422452p.L53Lc.159G>TSubstitution - coding silent
ATP6V0BENSG00000117410ENST00000472174p.V155Mc.463G>ASubstitution - Missense
FOXP2ENSG00000128573ENST00000408937p.Q174*c.520C>TSubstitution - Nonsense
NLE1ENSG00000073536ENST00000442241p.?c.829-1G>CUnknown
DENND2AENSG00000146966ENST00000492720p.E726Qc.2176G>CSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.?c.673-2A>TUnknown
ACACBENSG00000076555ENST00000377848p.E1564Qc.4690G>CSubstitution - Missense
ACACBENSG00000076555ENST00000543201p.E230Qc.688G>CSubstitution - Missense
FAM186BENSG00000135436ENST00000257894p.A125Gc.374C>GSubstitution - Missense
RPUSD2ENSG00000166133ENST00000315616p.E469Kc.1405G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.P52Rc.155C>GSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.R817Cc.2449C>TSubstitution - Missense
GXYLT2ENSG00000172986ENST00000389617p.L133fs*17c.397delCDeletion - Frameshift
TTLL2ENSG00000120440ENST00000239587p.?c.204+1G>TUnknown
BMPR2ENSG00000204217ENST00000374580p.M505Ic.1515G>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.R219Wc.655A>TSubstitution - Missense
C6orf118ENSG00000112539ENST00000230301p.G20Rc.58G>CSubstitution - Missense
SLC11A1ENSG00000018280ENST00000233202p.L300Lc.900C>ASubstitution - coding silent
COL9A1ENSG00000112280ENST00000357250p.C4Sc.11G>CSubstitution - Missense
LANCL2ENSG00000132434ENST00000254770p.Y209Cc.626A>GSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.V98Ic.292G>ASubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.V485Mc.1453G>ASubstitution - Missense
TMPRSS6ENSG00000187045ENST00000346753p.R223Hc.668G>ASubstitution - Missense
ENST00000426033p.A1393Vc.4178C>TSubstitution - Missense
GPR180ENSG00000152749ENST00000376958p.T121Tc.363G>ASubstitution - coding silent
ENST00000349637p.S1632*c.4895C>GSubstitution - Nonsense
CCDC65ENSG00000139537ENST00000320516p.Q462Ec.1384C>GSubstitution - Missense
OR52N2ENSG00000180988ENST00000317037p.V189Ec.566T>ASubstitution - Missense
OIT3ENSG00000138315ENST00000334011p.G296Vc.887G>TSubstitution - Missense
UMODENSG00000169344ENST00000424589p.V625Vc.1875C>GSubstitution - coding silent
NM_033086.1p.G519Rc.1555G>ASubstitution - Missense
HS3ST3A1ENSG00000153976ENST00000284110p.L269Lc.805T>CSubstitution - coding silent
ATP10DENSG00000145246ENST00000273859p.L15Lc.45G>CSubstitution - coding silent
NUP93ENSG00000102900ENST00000308159p.R786*c.2356C>TSubstitution - Nonsense
LAMA2ENSG00000196569ENST00000421865p.R2216Pc.6647G>CSubstitution - Missense
TAAR2ENSG00000146378ENST00000367931p.G316Sc.946G>ASubstitution - Missense
RASL10BENSG00000141150ENST00000268864p.A38fs*11c.110delCDeletion - Frameshift
TADA2AENSG00000108264ENST00000394395p.Q101Ec.301C>GSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.Q101Ec.301C>GSubstitution - Missense
PLCL2ENSG00000154822ENST00000418129p.C571*c.1713C>ASubstitution - Nonsense
PLCL2ENSG00000154822ENST00000396755p.C571*c.1713C>ASubstitution - Nonsense
PCSK5ENSG00000099139ENST00000545128p.A793Ac.2379T>ASubstitution - coding silent
SECISBP2ENSG00000187742ENST00000375807p.S93Sc.279T>CSubstitution - coding silent
IDSENSG00000010404ENST00000340855p.L259Vc.775C>GSubstitution - Missense
HCFC1ENSG00000172534ENST00000310441p.T127Mc.380C>TSubstitution - Missense
NM_005334.1p.T28Mc.83C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.?c.5485-7C>AUnknown
KIF4BENSG00000226650ENST00000435029p.K644Tc.1931A>CSubstitution - Missense
HIST1H3IENSG00000182572ENST00000328488p.I125Vc.373A>GSubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.?c.2499-9C>TUnknown
C7orf57ENSG00000164746ENST00000348904p.V26Mc.76G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.L4373fs*34c.13119_13130>TTComplex - frameshift
MEGF8ENSG00000105429ENST00000334370p.?c.4192-10C>GUnknown
MEGF8ENSG00000105429ENST00000251268p.?c.3016-10C>GUnknown
ENST00000251268_v61p.?c.4393-10C>GUnknown
XRCC1ENSG00000073050ENST00000262887p.L492Lc.1476G>CSubstitution - coding silent
DPP6ENSG00000130226ENST00000377770p.E436Qc.1306G>CSubstitution - Missense
KLHL38ENSG00000175946ENST00000325995p.G579Sc.1735G>ASubstitution - Missense
TMEM71ENSG00000165071ENST00000356838p.?c.102-9C>AUnknown
TMEM71ENSG00000165071ENST00000377901p.?c.102-9C>AUnknown
CNTRLENSG00000119397ENST00000373855p.L1882Vc.5644C>GSubstitution - Missense
PBX3ENSG00000167081ENST00000373489p.Q188Pc.563A>CSubstitution - Missense
MPDZENSG00000107186ENST00000541718p.S1283Tc.3848G>CSubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.D452Hc.1354G>CSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.H2338Hc.7014C>TSubstitution - coding silent
ENST00000388903p.H2171Hc.6513C>TSubstitution - coding silent
ZNF354BENSG00000178338ENST00000322434p.C466Gc.1396T>GSubstitution - Missense
RNF180ENSG00000164197ENST00000389100p.R474Rc.1422G>CSubstitution - coding silent
DIP2CENSG00000151240ENST00000381496p.A479Ec.1436C>ASubstitution - Missense
ZCCHC24ENSG00000165424ENST00000372333p.V182Vc.546G>CSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000354353p.P1222Pc.3666C>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404771p.P1156Pc.3468C>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000372443p.P1188Pc.3564C>ASubstitution - coding silent
CTNND1ENSG00000198561ENST00000399050p.P361Tc.1081C>ASubstitution - Missense
ESYT1ENSG00000139641ENST00000541590p.D545Yc.1633G>TSubstitution - Missense
CCDC65ENSG00000139537ENST00000266984p.Q462Ec.1384C>GSubstitution - Missense
FAM186BENSG00000135436ENST00000544141p.A35Gc.104C>GSubstitution - Missense
HHATENSG00000054392ENST00000545154p.I461Tc.1382T>CSubstitution - Missense
TESK2ENSG00000070759ENST00000372086p.G11Ac.32G>CSubstitution - Missense
MROH7ENSG00000184313ENST00000339553p.S183Yc.548C>ASubstitution - Missense
GPATCH2LENSG00000089916ENST00000556663p.Q35Hc.105G>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.Y2585Cc.7754A>GSubstitution - Missense
MTA1ENSG00000182979ENST00000435036p.T12Mc.35C>TSubstitution - Missense
TADA2AENSG00000108264ENST00000417170p.Q101Ec.301C>GSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000378944p.S497Cc.1490C>GSubstitution - Missense
ICOSLGENSG00000160223ENST00000344330p.D77Gc.230A>GSubstitution - Missense
TMPRSS6ENSG00000187045ENST00000381792p.R214Hc.641G>ASubstitution - Missense
OSBP2ENSG00000184792ENST00000382310p.V397Mc.1189G>ASubstitution - Missense
POTEFENSG00000196604ENST00000361163p.E138Qc.412G>CSubstitution - Missense
GK5ENSG00000175066ENST00000544571p.I89Nc.266T>ASubstitution - Missense
ETV5ENSG00000244405ENST00000537818p.D494Hc.1480G>CSubstitution - Missense
SRGAP3ENSG00000196220ENST00000360413p.L599Ic.1795C>ASubstitution - Missense
MICAL1ENSG00000135596ENST00000368952p.?c.2044-1G>CUnknown
DHX16ENSG00000204560ENST00000376437p.?c.1056-9C>TUnknown
FOXP2ENSG00000128573ENST00000403559p.Q166*c.496C>TSubstitution - Nonsense
MPDZENSG00000107186ENST00000319217p.S1283Tc.3848G>CSubstitution - Missense
IDSENSG00000010404ENST00000370441p.L259Vc.775C>GSubstitution - Missense
OR4B1ENSG00000175619ENST00000309562p.M131Tc.392T>CSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.I1406Fc.4216A>TSubstitution - Missense
NDUFAF3ENSG00000178057ENST00000326925p.?c.1_270+81del475Unknown
MST1RENSG00000164078ENST00000296474p.T335Tc.1005T>GSubstitution - coding silent
GLYCTKENSG00000168237ENST00000436784p.D488Yc.1462G>TSubstitution - Missense
ZNF707ENSG00000181135ENST00000532205p.S175*c.524C>ASubstitution - Nonsense
HOXD12ENSG00000170178ENST00000406506p.P41Lc.122C>TSubstitution - Missense
SEZ6LENSG00000100095ENST00000248933p.I733Tc.2198T>CSubstitution - Missense
FBXO7ENSG00000100225ENST00000266087p.W134*c.402G>ASubstitution - Nonsense
PRR14LENSG00000183530ENST00000327423p.R409Tc.1226G>CSubstitution - Missense
CAPN13ENSG00000162949ENST00000295055p.F328Sc.983T>CSubstitution - Missense
STRNENSG00000115808ENST00000263918p.S382Sc.1146C>TSubstitution - coding silent
TRAPPC12ENSG00000171853ENST00000382110p.A513Ac.1539C>ASubstitution - coding silent
LRCH3ENSG00000186001ENST00000334859p.?c.408-1G>TUnknown
FRAS1ENSG00000138759ENST00000264895p.L3766Fc.11298G>TSubstitution - Missense
HERC6ENSG00000138642ENST00000264346p.F117Lc.351C>GSubstitution - Missense
SLC20A2ENSG00000168575ENST00000342228p.L493Lc.1479C>ASubstitution - coding silent
IQSEC2ENSG00000124313ENST00000375365p.V25Ic.73G>ASubstitution - Missense
FIZ1ENSG00000179943ENST00000221665p.G406Vc.1217G>TSubstitution - Missense
CHRNB1ENSG00000170175ENST00000306071p.G382Ac.1145G>CSubstitution - Missense
CNOT11ENSG00000158435ENST00000289382p.V397Vc.1191C>ASubstitution - coding silent
ZCWPW2ENSG00000206559ENST00000383768p.L142Lc.426G>CSubstitution - coding silent
SULT1C3ENSG00000196228ENST00000329106p.L145Lc.433C>TSubstitution - coding silent
DLEC1ENSG00000008226ENST00000346219p.P351Rc.1052C>GSubstitution - Missense
PDLIM5ENSG00000163110ENST00000317968p.R130Rc.390G>ASubstitution - coding silent
CNOT1ENSG00000125107ENST00000441024p.L1286Fc.3856C>TSubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.N271Kc.813C>ASubstitution - Missense
C3orf79ENSG00000237787ENST00000446603p.Q7Rc.20A>GSubstitution - Missense
VEPH1ENSG00000197415ENST00000392832p.N815fs*12c.2443_2446AACG>TTComplex - frameshift
NM_005496.2p.Y325fs*36c.972_978delATATTATDeletion - Frameshift
KIAA1109ENSG00000138688ENST00000264501p.P1495Lc.4484C>TSubstitution - Missense
CDH10ENSG00000040731ENST00000264463p.G55Sc.163G>ASubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.K1244fs*14c.3731delADeletion - Frameshift
MYCT1ENSG00000120279ENST00000367245p.Y207Hc.619T>CSubstitution - Missense
ZDHHC14ENSG00000175048ENST00000359775p.P176Hc.527C>ASubstitution - Missense
CREB5ENSG00000146592ENST00000357727p.T63Tc.189G>ASubstitution - coding silent
SKAP2ENSG00000005020ENST00000345317p.?c.988-7C>AUnknown
PCLOENSG00000186472ENST00000333891p.Y2836*c.8508C>GSubstitution - Nonsense
FLNAENSG00000196924ENST00000369850p.G2218Dc.6653G>ASubstitution - Missense
DKC1ENSG00000130826ENST00000369550p.R111Rc.333G>ASubstitution - coding silent
DPP10ENSG00000175497ENST00000410059p.D144Yc.430G>TSubstitution - Missense
TMEM37ENSG00000171227ENST00000306406p.Q69Lc.206A>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.G920Sc.2758G>ASubstitution - Missense
UGT1A5ENSG00000240224ENST00000373414p.Q209Rc.626A>GSubstitution - Missense
ENST00000358511_v70p.S255Cc.763A>TSubstitution - Missense
TBC1D22AENSG00000054611ENST00000337137p.L415Vc.1243C>GSubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.T90Pc.268A>CSubstitution - Missense
ENST00000274361_v65p.S215Ic.644G>TSubstitution - Missense
ANKRD31ENSG00000145700ENST00000274361p.S215Ic.644G>TSubstitution - Missense
SLC5A5ENSG00000105641ENST00000222248p.?c.1767+5G>CUnknown
CRTC1ENSG00000105662ENST00000321949p.S572fs*4c.1705_1706insCInsertion - Frameshift
LRP1BENSG00000168702ENST00000389484p.A2354Sc.7060G>TSubstitution - Missense
TMEM43ENSG00000170876ENST00000306077p.P74Hc.221C>ASubstitution - Missense
GK5ENSG00000175066ENST00000392993p.I89Nc.266T>ASubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.?c.630-6T>CUnknown
ISOC1ENSG00000066583ENST00000173527p.I136Vc.406A>GSubstitution - Missense
LYSMD3ENSG00000176018ENST00000315948p.I263Ic.789C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.?c.2368-23_2899-107>AGUnknown
SERPINB10ENSG00000242550ENST00000238508p.V365Vc.1095C>TSubstitution - coding silent
TMPRSS6ENSG00000187045ENST00000442782p.R223Hc.668G>ASubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.N514Ic.1541A>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.Q1887Kc.5659C>ASubstitution - Missense
TBC1D31ENSG00000156787ENST00000287380p.V79Gc.236T>GSubstitution - Missense
ABCA1ENSG00000165029ENST00000374736p.L700Lc.2098C>TSubstitution - coding silent
FKBP15ENSG00000119321ENST00000446284p.Q865Qc.2595A>GSubstitution - coding silent
ZNF214ENSG00000149050ENST00000278314p.N35Ic.104A>TSubstitution - Missense
WDR64ENSG00000162843ENST00000366552p.?c.145+1G>AUnknown
NLRP3ENSG00000162711ENST00000391828p.?c.2669+4A>CUnknown
TACC2ENSG00000138162ENST00000453444p.A1347Sc.4039G>TSubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.?c.2576-10T>CUnknown
XPNPEP1ENSG00000108039ENST00000502935p.I270Ic.810C>ASubstitution - coding silent
XPNPEP1ENSG00000108039ENST00000369680p.I227Ic.681C>ASubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.D1386_T1858del473c.4154_5572del1419Deletion - In frame
NM_004667.3p.L1457Fc.4371A>TSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.?c.201-4C>GUnknown
ARHGAP30ENSG00000186517ENST00000368016p.?c.201-4C>GUnknown
PAPPA2ENSG00000116183ENST00000367662p.?c.4323+6T>GUnknown
KCNC2ENSG00000166006ENST00000549446p.T464fs*12c.1389_1390insAInsertion - Frameshift
KCNC2ENSG00000166006ENST00000341669p.T464fs*12c.1389_1390insAInsertion - Frameshift
MFRPENSG00000235718ENST00000555262p.?c.641+1G>CUnknown
YAP1ENSG00000137693ENST00000282441p.D383Ac.1148A>CSubstitution - Missense
TRPM5ENSG00000070985ENST00000155858p.Q916Qc.2748G>ASubstitution - coding silent
UMODENSG00000169344ENST00000302509p.V592Vc.1776C>GSubstitution - coding silent
GPR158ENSG00000151025ENST00000376351p.G800Rc.2398G>ASubstitution - Missense
GPATCH2LENSG00000089916ENST00000261530p.Q35Hc.105G>TSubstitution - Missense
GPATCH2LENSG00000089916ENST00000312858p.Q35Hc.105G>TSubstitution - Missense
MKL2ENSG00000186260ENST00000318282p.I427Nc.1280T>ASubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.K520Nc.1560G>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.K301Nc.903G>CSubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.R397fs*117c.1190_1282>TComplex - frameshift
SZT2ENSG00000198198ENST00000562955p.L2857Fc.8571G>CSubstitution - Missense
NDC1ENSG00000058804ENST00000371429p.Q663Qc.1989G>ASubstitution - coding silent
ZYG11AENSG00000203995ENST00000371528p.L198Pc.593T>CSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.S183Yc.548C>ASubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.V1128Ic.3382G>ASubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.T1605Pc.4813A>CSubstitution - Missense
PGLYRP4ENSG00000163218ENST00000359650p.?c.50-9C>TUnknown
THBS3ENSG00000169231ENST00000368378p.F206Cc.617T>GSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.S823Sc.2469A>TSubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.G416Rc.1246G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.?c.4104+7A>TUnknown
ASCL3ENSG00000176009ENST00000325884p.P77Pc.231G>ASubstitution - coding silent
ATP6V0A2ENSG00000185344ENST00000330342p.R776Rc.2328C>TSubstitution - coding silent
PRAMEF10ENSG00000187545ENST00000235347p.C457Yc.1370G>ASubstitution - Missense
OR2T2ENSG00000196240ENST00000342927p.M82Rc.245T>GSubstitution - Missense
OR2M4ENSG00000171180ENST00000306687p.M118Tc.353T>CSubstitution - Missense
MAP3K6ENSG00000142733ENST00000493901p.R222Hc.665G>ASubstitution - Missense
PDE4BENSG00000184588ENST00000329654p.L682Lc.2046G>ASubstitution - coding silent
PDE4BENSG00000184588ENST00000371045p.L510Lc.1530G>ASubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.Q1760Qc.5280G>ASubstitution - coding silent
TMCO5AENSG00000166069ENST00000319669p.E80Ec.240G>ASubstitution - coding silent
TTLL6ENSG00000170703ENST00000393382p.T245Mc.734C>TSubstitution - Missense
FOXA2ENSG00000125798ENST00000377115p.?c.70-1G>AUnknown
UBE2E3ENSG00000170035ENST00000392415p.P100Pc.300A>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.P52Rc.155C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P52Rc.155C>GSubstitution - Missense
NM_003319p.P52Rc.155C>GSubstitution - Missense
XRCC5ENSG00000079246ENST00000392133p.H382Yc.1144C>TSubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.Q724Rc.2171A>GSubstitution - Missense
TMEM31ENSG00000179363ENST00000319560p.R86Rc.256C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.?c.673-2A>TUnknown
DYNLRB1ENSG00000125971ENST00000300469p.G33Gc.99A>GSubstitution - coding silent
KCNV2ENSG00000168263ENST00000382082p.L484Vc.1450C>GSubstitution - Missense
SPATA31A7ENSG00000234734ENST00000355045p.T335fs*34c.1000_1001insAInsertion - Frameshift
CDH17ENSG00000079112ENST00000027335p.Q128Kc.382C>ASubstitution - Missense
BLMHENSG00000108578ENST00000261714p.E395Qc.1183G>CSubstitution - Missense
ENST00000325084p.?c.6342+8C>TUnknown
CACNA1AENSG00000141837ENST00000360228p.?c.6339+8C>TUnknown
UGT2A1ENSG00000173610ENST00000503640p.?c.1084+10T>AUnknown
FUSENSG00000089280ENST00000254108p.K312Qc.934A>CSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.V53Gc.158T>GSubstitution - Missense
DLEC1ENSG00000008226ENST00000308059p.P351Rc.1052C>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.Y6200Cc.18599A>GSubstitution - Missense
B3GALNT2ENSG00000162885ENST00000366600p.N203Sc.608A>GSubstitution - Missense
C1orf101ENSG00000179397ENST00000366533p.T653Ic.1958C>TSubstitution - Missense
GPR45ENSG00000135973ENST00000258456p.S7Cc.20C>GSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.D1891Vc.5672A>TSubstitution - Missense
ACY1ENSG00000243989ENST00000404366p.E381Dc.1143G>CSubstitution - Missense
HIST1H4LENSG00000198558ENST00000355981p.E64Qc.190G>CSubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.?c.1987-1G>CUnknown
DIP2CENSG00000151240ENST00000280886p.A586Ec.1757C>ASubstitution - Missense
SPAG6ENSG00000077327ENST00000376624p.V106Lc.316G>TSubstitution - Missense
ZCCHC24ENSG00000165424ENST00000372336p.*242Sc.725G>CSubstitution - Missense
CDH8ENSG00000150394ENST00000577390p.Y533*c.1599C>ASubstitution - Nonsense
SIGLEC1ENSG00000088827ENST00000344754p.1670_1673delc.5006_5017del12Deletion - In frame
KIF16BENSG00000089177ENST00000354981p.K772Tc.2315A>CSubstitution - Missense
TRMT2AENSG00000099899ENST00000252136p.P604Sc.1810C>TSubstitution - Missense
SEPHS2ENSG00000179918ENST00000500504p.G396Rc.1186G>ASubstitution - Missense
OSBP2ENSG00000184792ENST00000332585p.V397Mc.1189G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.E726Qc.2176G>CSubstitution - Missense
RNF123ENSG00000164068ENST00000327697p.S1173Lc.3518C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G2218Dc.6653G>ASubstitution - Missense
TCEAL5ENSG00000204065ENST00000372680p.A102Dc.305C>ASubstitution - Missense
NFIXENSG00000008441ENST00000360105p.P342Sc.1024C>TSubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.E372Qc.1114G>CSubstitution - Missense
AMIGO1ENSG00000181754ENST00000369862p.G431Ec.1292G>ASubstitution - Missense
AFAP1L2ENSG00000169129ENST00000304129p.T753Pc.2257A>CSubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.A1263Ac.3789T>GSubstitution - coding silent
GOLGA7ENSG00000147533ENST00000357743p.I123Ic.369T>ASubstitution - coding silent
SLC9C1ENSG00000172139ENST00000305815p.N1047Hc.3139A>CSubstitution - Missense
NFKBIEENSG00000146232ENST00000275015p.D462Ec.1386C>ASubstitution - Missense
MYO1GENSG00000136286ENST00000258787p.H242Qc.726C>GSubstitution - Missense
MKLN1ENSG00000128585ENST00000352689p.M392Ic.1176G>ASubstitution - Missense
ZNF425ENSG00000204947ENST00000378061p.I405Mc.1215C>GSubstitution - Missense
CPEB1ENSG00000214575ENST00000398591p.G153Rc.457G>CSubstitution - Missense
MSANTD4ENSG00000170903ENST00000301919p.I293Ic.879A>TSubstitution - coding silent
ETV5ENSG00000244405ENST00000306376p.D452Hc.1354G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.673-2A>TUnknown
ENST00000545858p.?c.394-2A>TUnknown
KRT8ENSG00000170421ENST00000293308p.R23Cc.67C>TSubstitution - Missense
TOX2ENSG00000124191ENST00000372999p.K199Mc.596A>TSubstitution - Missense
SF1ENSG00000168066ENST00000334944p.E28Ec.84A>GSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.R3781Qc.11342G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.R3781Qc.11342G>ASubstitution - Missense
HHATENSG00000054392ENST00000367010p.I460Tc.1379T>CSubstitution - Missense
LAMB3ENSG00000196878ENST00000367030p.R161Gc.481C>GSubstitution - Missense
PCDH8ENSG00000136099ENST00000377942p.R343Hc.1028G>ASubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.N80Kc.240C>ASubstitution - Missense
NUAK1ENSG00000074590ENST00000261402p.E475Qc.1423G>CSubstitution - Missense
NUAK1ENSG00000074590ENST00000261402p.E475Qc.1423G>CSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.L1108Lc.3322C>TSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404857p.P1202Pc.3606C>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000286627p.P1161Pc.3483C>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000372443p.H967Hc.2901C>TSubstitution - coding silent
BCANENSG00000132692ENST00000361588p.I408Vc.1222A>GSubstitution - Missense
OR10J3ENSG00000196266ENST00000332217p.R273Rc.819A>GSubstitution - coding silent
IFI16ENSG00000163565ENST00000295809p.S160Pc.478T>CSubstitution - Missense
GOLGA6L18ENSG00000215749ENST00000559949p.E213Gc.638A>GSubstitution - Missense
IL16ENSG00000172349ENST00000302987p.I379Mc.1137C>GSubstitution - Missense
ACANENSG00000157766ENST00000439576p.E1380Kc.4138G>ASubstitution - Missense
KLHL25ENSG00000183655ENST00000337975p.Q181Hc.543G>CSubstitution - Missense
ZBTB3ENSG00000185670ENST00000394807p.L61Lc.181C>TSubstitution - coding silent
RBM14ENSG00000239306ENST00000310137p.K594Nc.1782G>CSubstitution - Missense
NM_007170p.G11Ac.32G>CSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.K1517fs*23c.4550_4559del10Deletion - Frameshift
TMEM255AENSG00000125355ENST00000309720p.L89Lc.265C>TSubstitution - coding silent
FBXO8ENSG00000164117ENST00000393674p.L269Ic.805C>ASubstitution - Missense
SF1ENSG00000168066ENST00000377390p.E28Ec.84A>GSubstitution - coding silent
CTNND1ENSG00000198561ENST00000361391p.P361Tc.1081C>ASubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.L792Fc.2376G>TSubstitution - Missense


COSMIC

121 mutations reported
19 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
KCNC2ENSG00000166006ENST00000298972p.L463Lc.1389G>ASubstitution - coding silent16959974
GPR45ENSG00000135973ENST00000258456p.S7Cc.20C>GSubstitution - Missense16959974
PLXNB1ENSG00000164050ENST00000296440p.D1891Vc.5672A>TSubstitution - Missense16959974
HIST1H4LENSG00000198558ENST00000355981p.E64Qc.190G>CSubstitution - Missense16959974
SYNE2ENSG00000054654ENST00000358025p.Y6200Cc.18599A>GSubstitution - Missense16959974
ZCCHC24ENSG00000165424ENST00000372336p.*242Sc.725G>CSubstitution - Missense16959974
TMEM125ENSG00000179178ENST00000439858p.R107Lc.320G>TSubstitution - Missense16959974
AGAP2ENSG00000135439ENST00000257897p.D480Yc.1438G>TSubstitution - Missense16959974
B3GALNT2ENSG00000162885ENST00000366600p.N203Sc.608A>GSubstitution - Missense16959974
DLEC1ENSG00000008226ENST00000308059p.P351Rc.1052C>GSubstitution - Missense16959974
FBXO8ENSG00000164117ENST00000393674p.L269Ic.805C>ASubstitution - Missense16959974
C1orf101ENSG00000179397ENST00000366533p.T653Ic.1958C>TSubstitution - Missense16959974
KIF16BENSG00000089177ENST00000354981p.K772Tc.2315A>CSubstitution - Missense16959974
FOXP2ENSG00000128573ENST00000408937p.Q174*c.520C>TSubstitution - Nonsense16959974
TP53ENSG00000141510ENST00000269305p.?c.673-2A>TUnknown16959974
TRMT2AENSG00000099899ENST00000252136p.P604Sc.1810C>TSubstitution - Missense16959974
PADI3ENSG00000142619ENST00000375460p.G509Rc.1525G>CSubstitution - Missense16959974
ACY1ENSG00000243989ENST00000404366p.E381Dc.1143G>CSubstitution - Missense16959974
CRXENSG00000105392ENST00000221996p.S141Fc.422C>TSubstitution - Missense16959974
NLE1ENSG00000073536ENST00000442241p.?c.829-1G>CUnknown16959974
NM_005496.2p.Y325fs*36c.974_980delATTATATDeletion - Frameshift16959974
FUSENSG00000089280ENST00000254108p.K312Qc.934A>CSubstitution - Missense16959974
DIP2CENSG00000151240ENST00000280886p.A586Ec.1757C>ASubstitution - Missense16959974
IRF8ENSG00000140968ENST00000268638p.R81Kc.242G>ASubstitution - Missense16959974
LAMA2ENSG00000196569ENST00000421865p.P1160Ac.3478C>GSubstitution - Missense16959974
SIGLEC1ENSG00000088827ENST00000344754p.1670_1673delc.5006_5017del12Deletion - In frame16959974
ATP6V0BENSG00000117410ENST00000472174p.V155Mc.463G>ASubstitution - Missense16959974
SRGAP3ENSG00000196220ENST00000383836p.L623Ic.1867C>ASubstitution - Missense16959974
ADAM12ENSG00000148848ENST00000368679p.L792Fc.2376G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.673-2A>TUnknown
TP53ENSG00000141510ENST00000269305p.?c.673-2A>TUnknown
TP53ENSG00000141510ENST00000269305p.?c.673-2A>TUnknown
TP53ENSG00000141510ENST00000269305p.?c.673-2A>TUnknown
CTNND1ENSG00000198561ENST00000361391p.P361Tc.1081C>ASubstitution - Missense
TOP2BENSG00000077097ENST00000435706p.Q1008fs*16c.3021_3027delTCAAACTDeletion - Frameshift
TOP2BENSG00000077097ENST00000435706p.Q1008fs*16c.3021_3027delTCAAACTDeletion - Frameshift
TMEM255AENSG00000125355ENST00000309720p.L89Lc.265C>TSubstitution - coding silent
BRCA2ENSG00000139618ENST00000380152p.K1517fs*23c.4550_4559del10Deletion - Frameshift
BRCA2ENSG00000139618ENST00000380152p.K1517fs*23c.4550_4559del10Deletion - Frameshift
FUSENSG00000089280ENST00000254108p.K312Qc.934A>CSubstitution - Missense
ANKK1ENSG00000170209ENST00000303941p.K347Tc.1040A>CSubstitution - Missense15908952
ANKK1ENSG00000170209ENST00000303941p.K347Tc.1040A>CSubstitution - Missense15908952
TACC2ENSG00000138162ENST00000369005p.A1347Sc.4039G>TSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.A1347Sc.4039G>TSubstitution - Missense
CFHENSG00000000971ENST00000367429p.G736Gc.2208A>GSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.K2396Ec.7186A>GSubstitution - Missense
CAMK1GENSG00000008118ENST00000009105p.A443Tc.1327G>ASubstitution - Missense15908952
CAMK1GENSG00000008118ENST00000009105p.A443Tc.1327G>ASubstitution - Missense15908952
HSPA14ENSG00000187522ENST00000378372p.A85Vc.254C>TSubstitution - Missense
NLE1ENSG00000073536ENST00000442241p.?c.829-1G>CUnknown
FBXO8ENSG00000164117ENST00000393674p.L269Ic.805C>ASubstitution - Missense
SF1ENSG00000168066ENST00000377390p.E28Ec.84A>GSubstitution - coding silent
NM_007170p.G11Ac.32G>CSubstitution - Missense15908952
NM_007170p.G11Ac.32G>CSubstitution - Missense15908952
HERC1ENSG00000103657ENST00000443617p.I3422Mc.10266C>GSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.I3422Mc.10266C>GSubstitution - Missense
FBXO8ENSG00000164117ENST00000393674p.L269Ic.805C>ASubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.A1263Ac.3789T>GSubstitution - coding silent17932254
MSANTD4ENSG00000170903ENST00000301919p.I293Ic.879A>TSubstitution - coding silent17932254
MYO1GENSG00000136286ENST00000258787p.H242Qc.726C>GSubstitution - Missense17932254
ETV5ENSG00000244405ENST00000306376p.D452Hc.1354G>CSubstitution - Missense17932254
LAMA1ENSG00000101680ENST00000389658p.V53Gc.158T>GSubstitution - Missense17932254
CPEB1ENSG00000214575ENST00000398591p.G153Rc.457G>CSubstitution - Missense17932254
SLC9C1ENSG00000172139ENST00000305815p.N1047Hc.3139A>CSubstitution - Missense17932254
FLNAENSG00000196924ENST00000369850p.G2218Dc.6653G>ASubstitution - Missense17932254
CTNND1ENSG00000198561ENST00000361391p.P361Tc.1081C>ASubstitution - Missense17932254
UTP14CENSG00000253797ENST00000521776p.H192delc.574_576delCATDeletion - In frame17932254
COL12A1ENSG00000111799ENST00000322507p.I530fs*5c.1588_1589insAInsertion - Frameshift17932254
RIMS1ENSG00000079841ENST00000521978p.A430Sc.1288G>TSubstitution - Missense17932254
NFKBIEENSG00000146232ENST00000275015p.D462Ec.1386C>ASubstitution - Missense17932254
GOLGA7ENSG00000147533ENST00000357743p.I123Ic.369T>ASubstitution - coding silent17932254
COQ9ENSG00000088682ENST00000262507p.L10Rc.29T>GSubstitution - Missense17932254
FCHO1ENSG00000130475ENST00000252771p.S196Sc.588A>CSubstitution - coding silent17932254
KCNC2ENSG00000166006ENST00000298972p.T464fs*12c.1389_1390insAInsertion - Frameshift17932254
PEX14ENSG00000142655ENST00000356607p.L134Lc.402C>TSubstitution - coding silent17932254
MCAMENSG00000076706ENST00000264036p.E607Kc.1819G>ASubstitution - Missense17932254
FANCMENSG00000187790ENST00000267430p.P1722Sc.5164C>TSubstitution - Missense17932254
ZNF707ENSG00000181135ENST00000358656p.S175*c.524C>ASubstitution - Nonsense17932254
CRTC1ENSG00000105662ENST00000321949p.S572fs*4c.1713_1714insCInsertion - Frameshift17932254
MTA1ENSG00000182979ENST00000331320p.T476Mc.1427C>TSubstitution - Missense17932254
NEBENSG00000183091ENST00000409198p.R3538Qc.10613G>ASubstitution - Missense17932254
PIK3C2GENSG00000139144ENST00000433979p.V845Vc.2535C>GSubstitution - coding silent17932254
AFAP1L2ENSG00000169129ENST00000304129p.T753Pc.2257A>CSubstitution - Missense17932254
AMIGO1ENSG00000181754ENST00000369862p.G431Ec.1292G>ASubstitution - Missense17932254
SEPHS2ENSG00000179918ENST00000500504p.G396Rc.1186G>ASubstitution - Missense17932254
NM_007170p.G11Ac.32G>CSubstitution - Missense17932254
DENND2AENSG00000146966ENST00000275884p.E726Qc.2176G>CSubstitution - Missense17932254
OSBP2ENSG00000184792ENST00000332585p.V397Mc.1189G>ASubstitution - Missense17932254
RNF123ENSG00000164068ENST00000327697p.S1173Lc.3518C>TSubstitution - Missense17932254
DPP6ENSG00000130226ENST00000404039p.E372Qc.1114G>CSubstitution - Missense17932254
MKLN1ENSG00000128585ENST00000352689p.M392Ic.1176G>ASubstitution - Missense17932254
TOP2BENSG00000077097ENST00000435706p.K1006fs*18c.3016_3022delAAACTTCDeletion - Frameshift17932254
TCEAL5ENSG00000204065ENST00000372680p.A102Dc.305C>ASubstitution - Missense17932254
ZNF425ENSG00000204947ENST00000378061p.I405Mc.1215C>GSubstitution - Missense17932254
NFIXENSG00000008441ENST00000360105p.P342Sc.1024C>TSubstitution - Missense17932254
GPC1ENSG00000063660ENST00000264039p.A337Dc.1010C>ASubstitution - Missense16959974
FAM210AENSG00000177150ENST00000322247p.V140Ec.419T>ASubstitution - Missense16959974
PDZD4ENSG00000067840ENST00000164640p.R39Cc.115C>TSubstitution - Missense16959974
ATP8B1ENSG00000081923ENST00000283684p.?c.940+4C>AUnknown16959974
TNS1ENSG00000079308ENST00000171887p.F1093Lc.3279C>ASubstitution - Missense16959974
ZNF668ENSG00000167394ENST00000394983p.G286Sc.856G>ASubstitution - Missense16959974
MAP7D2ENSG00000184368ENST00000379651p.A32Pc.94G>CSubstitution - Missense16959974
VEPH1ENSG00000197415ENST00000392832p.N815fs*12c.2443_2444delAADeletion - Frameshift16959974
TMPRSS6ENSG00000187045ENST00000346753p.R223Hc.668G>ASubstitution - Missense16959974
WNT2ENSG00000105989ENST00000265441p.N295_D302delc.882_905del24Deletion - In frame16959974
GIMAP1ENSG00000213203ENST00000307194p.V166Ec.497T>ASubstitution - Missense16959974
TACC2ENSG00000138162ENST00000369005p.A1347Sc.4039G>TSubstitution - Missense16959974
TRMT10AENSG00000145331ENST00000394876p.P82Qc.245C>ASubstitution - Missense16959974
CST4ENSG00000101441ENST00000217423p.T77Nc.230C>ASubstitution - Missense16959974
OXSMENSG00000151093ENST00000280701p.F106Ic.316T>ASubstitution - Missense16959974
CSMD3ENSG00000164796ENST00000297405p.T3214_W3221delc.9641_9664del24Deletion - In frame16959974
CDH8ENSG00000150394ENST00000577390p.Y533*c.1599C>ASubstitution - Nonsense16959974
MICAL1ENSG00000135596ENST00000358807p.?c.1987-1G>CUnknown16959974
HSPA14ENSG00000187522ENST00000378372p.A85Vc.254C>TSubstitution - Missense16959974
ATRNENSG00000088812ENST00000262919p.L67delc.199_201delTTGDeletion - In frame16959974
MFSD9ENSG00000135953ENST00000258436p.G59Ac.176G>CSubstitution - Missense16959974
ABCA4ENSG00000198691ENST00000370225p.T224Mc.671C>TSubstitution - Missense16959974
MROH7ENSG00000184313ENST00000421030p.S183Yc.548C>ASubstitution - Missense16959974
LIPEENSG00000079435ENST00000244289p.P146Qc.437C>ASubstitution - Missense16959974
ADAM12ENSG00000148848ENST00000368679p.L792Fc.2376G>TSubstitution - Missense16959974
SPAG6ENSG00000077327ENST00000376624p.V106Lc.316G>TSubstitution - Missense16959974