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HCC-33 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

817 mutations reported
263 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
TMEM260ENSG00000070269ENST00000261556p.K174Mc.521A>TSubstitution - Missense
C14orf37ENSG00000139971ENST00000267485p.A723Sc.2167G>TSubstitution - Missense
CCDC158ENSG00000163749ENST00000388914p.Y853Cc.2558A>GSubstitution - Missense
CHRM3ENSG00000133019ENST00000255380p.K479Tc.1436A>CSubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.D243Gc.728A>GSubstitution - Missense
EMBENSG00000170571ENST00000303221p.V268Vc.804G>TSubstitution - coding silent
NM_139056.1p.R820Wc.2458C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C242Yc.725G>ASubstitution - Missense
QPRTENSG00000103485ENST00000395384p.?c.14-1G>AUnknown
RYR2ENSG00000198626ENST00000366574p.A1240Sc.3718G>TSubstitution - Missense
ENST00000316893p.P402Rc.1205C>GSubstitution - Missense
SLC2A9ENSG00000109667ENST00000264784p.L261Fc.783G>TSubstitution - Missense
SLC39A11ENSG00000133195ENST00000255559p.P166Lc.497C>TSubstitution - Missense
SMOENSG00000128602ENST00000249373p.S574Cc.1721C>GSubstitution - Missense
SP140ENSG00000079263ENST00000373645p.?c.60-2A>TUnknown
SPAG17ENSG00000155761ENST00000336338p.F38Lc.112T>CSubstitution - Missense
SPRY2ENSG00000136158ENST00000377104p.Q76*c.226C>TSubstitution - Nonsense
SUSD2ENSG00000099994ENST00000358321p.C44Fc.131G>TSubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.R103*c.307C>TSubstitution - Nonsense
MYSM1ENSG00000162601ENST00000472487p.E5Vc.14A>TSubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.G293Rc.877G>CSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.C377Fc.1130G>TSubstitution - Missense
NRF1ENSG00000106459ENST00000223190p.T123Sc.367A>TSubstitution - Missense
OR10Z1ENSG00000198967ENST00000361284p.S53Cc.157A>TSubstitution - Missense
OR5D18ENSG00000186119ENST00000333976p.D300Nc.898G>ASubstitution - Missense
OR6B3ENSG00000178586ENST00000319423p.E321*c.961G>TSubstitution - Nonsense
OR6M1ENSG00000196099ENST00000309154p.T228Nc.683C>ASubstitution - Missense
NM_006192.1p.L67Vc.199C>GSubstitution - Missense
NM_058004.1p.S1037Fc.3110C>TSubstitution - Missense
PROCENSG00000115718ENST00000234071p.G412Dc.1235G>ASubstitution - Missense
KHDC1ENSG00000135314ENST00000257765p.C87Fc.260G>TSubstitution - Missense
ENST00000370385p.C87Fc.260G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.C446Yc.1337G>ASubstitution - Missense
KLHL1ENSG00000150361ENST00000377844p.E524*c.1570G>TSubstitution - Nonsense
KLHL32ENSG00000186231ENST00000369261p.E306Kc.916G>ASubstitution - Missense
LAIR1ENSG00000167613ENST00000391742p.H163Dc.487C>GSubstitution - Missense
LEPREL1ENSG00000090530ENST00000319332p.V176Lc.526G>TSubstitution - Missense
LRRC66ENSG00000188993ENST00000343457p.H514Yc.1540C>TSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.L805Pc.2414T>CSubstitution - Missense
MARCOENSG00000019169ENST00000327097p.P336Qc.1007C>ASubstitution - Missense
MASP1ENSG00000127241ENST00000337774p.W668Lc.2003G>TSubstitution - Missense
MIB1ENSG00000101752ENST00000261537p.E346Dc.1038A>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5611Rc.16833C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.W1607Gc.4819T>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.W1607Gc.4819T>GSubstitution - Missense
SPATA31A6ENSG00000185775ENST00000332857p.P301Tc.901C>ASubstitution - Missense
FASLGENSG00000117560ENST00000367721p.P31Hc.92C>ASubstitution - Missense
FMO1ENSG00000010932ENST00000354841p.M93Vc.277A>GSubstitution - Missense
FOXN4ENSG00000139445ENST00000299162p.A51Vc.152C>TSubstitution - Missense
GLRA2ENSG00000101958ENST00000218075p.D413Ec.1239C>ASubstitution - Missense
GLRA2ENSG00000101958ENST00000355020p.D413Ec.1239C>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.E1115Qc.3343G>CSubstitution - Missense
GPRC5AENSG00000013588ENST00000014914p.M194Vc.580A>GSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.P1541Tc.4621C>ASubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.A225Sc.673G>TSubstitution - Missense
HSD3B2ENSG00000203859ENST00000369416p.E30Dc.90G>CSubstitution - Missense
ISM2ENSG00000100593ENST00000342219p.R539Hc.1616G>ASubstitution - Missense
KAT2BENSG00000114166ENST00000263754p.G567Ac.1700G>CSubstitution - Missense
CNGB1ENSG00000070729ENST00000251102p.G965Cc.2893G>TSubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.G768Rc.2302G>CSubstitution - Missense
DAAM2ENSG00000146122ENST00000538976p.K766Ec.2296A>GSubstitution - Missense
DMKNENSG00000161249ENST00000339686p.H317Qc.951C>GSubstitution - Missense
EPSTI1ENSG00000133106ENST00000313640p.E54Dc.162G>CSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.P1340Qc.4019C>ASubstitution - Missense
ACTL9ENSG00000181786ENST00000324436p.Q402Hc.1206G>TSubstitution - Missense
ADAM11ENSG00000073670ENST00000200557p.G157Wc.469G>TSubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.S321Cc.961A>TSubstitution - Missense
ASTN1ENSG00000152092ENST00000361833p.R270Cc.808C>TSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.G1419Rc.4255G>ASubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.S476Nc.1427G>ASubstitution - Missense
BPIFCENSG00000184459ENST00000397452p.S205Tc.614G>CSubstitution - Missense
PLEKHS1ENSG00000148735ENST00000361048p.D334Nc.1000G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.?c.708+1G>AUnknown
TMEM211ENSG00000206069ENST00000382744p.A117Pc.349G>CSubstitution - Missense
TRPV5ENSG00000127412ENST00000265310p.M1Ic.3G>TSubstitution - Missense
ENST00000356127p.A8187Dc.24560C>ASubstitution - Missense
ENST00000426033p.D579Yc.1735G>TSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.M77Ic.231G>TSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.M77Ic.231G>TSubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.M77Ic.231G>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.S2397Yc.7190C>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.R3614Wc.10840A>TSubstitution - Missense
ZNF558ENSG00000167785ENST00000301475p.Q64*c.190C>TSubstitution - Nonsense
ENST00000532796p.K158Nc.474A>TSubstitution - Missense
PSPC1ENSG00000121390ENST00000338910p.S499Cc.1495A>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.R1801Sc.5403G>TSubstitution - Missense
CPNE1ENSG00000214078ENST00000317677p.V114fs*43c.338_339insGInsertion - Frameshift
MAP2K3ENSG00000034152ENST00000361818p.?c.609+1G>AUnknown
CRIPAKENSG00000179979ENST00000324803p.H85Rc.254A>GSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.H31Pc.92A>CSubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.F991delFc.2972_2974delTCTDeletion - In frame
KRT73ENSG00000186049ENST00000305748p.E322Kc.964G>ASubstitution - Missense
TBC1D4ENSG00000136111ENST00000377636p.A737Sc.2209G>TSubstitution - Missense
ACAD10ENSG00000111271ENST00000313698p.E702Ec.2106A>GSubstitution - coding silent
PCDH9ENSG00000184226ENST00000377865p.T1178Tc.3534C>GSubstitution - coding silent
CDADC1ENSG00000102543ENST00000251108p.R148*c.442C>TSubstitution - Nonsense
ENST00000426521p.?c.452+9C>TUnknown
SUSD4ENSG00000143502ENST00000343846p.K92Kc.276G>ASubstitution - coding silent
SUSD4ENSG00000143502ENST00000344029p.K92Kc.276G>ASubstitution - coding silent
NAMPTLENSG00000229644ENST00000440465p.G273Gc.819T>CSubstitution - coding silent
PITRM1ENSG00000107959ENST00000451104p.G706Gc.2118T>GSubstitution - coding silent
PITRM1ENSG00000107959ENST00000380989p.G805Gc.2415T>GSubstitution - coding silent
IFI16ENSG00000163565ENST00000368131p.K99Rc.296A>GSubstitution - Missense
OR6K6ENSG00000180433ENST00000368144p.I165Tc.494T>CSubstitution - Missense
ENST00000368148p.L1964Ic.5890C>ASubstitution - Missense
ENST00000368148p.L1395Lc.4185G>ASubstitution - coding silent
BGLAPENSG00000242252ENST00000368272p.R95Cc.283C>TSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.D67Nc.199G>ASubstitution - Missense
ACTA1ENSG00000143632ENST00000366684p.A367Ac.1101C>GSubstitution - coding silent
CLEC6AENSG00000205846ENST00000382073p.?c.32-6G>TUnknown
GDF3ENSG00000184344ENST00000329913p.L149Mc.445C>ASubstitution - Missense
GZMBENSG00000100453ENST00000382542p.Q116Qc.348G>ASubstitution - coding silent
NDUFA12ENSG00000184752ENST00000327772p.V63Vc.189A>GSubstitution - coding silent
ROM1ENSG00000149489ENST00000278833p.R287Wc.859C>TSubstitution - Missense
INAENSG00000148798ENST00000369849p.A352Vc.1055C>TSubstitution - Missense
C10orf2ENSG00000107815ENST00000311916p.I510Vc.1528A>GSubstitution - Missense
INPP5FENSG00000198825ENST00000361976p.S1076Tc.3227G>CSubstitution - Missense
PLEKHS1ENSG00000148735ENST00000369310p.D314Nc.940G>ASubstitution - Missense
ZBTB18ENSG00000179456ENST00000358704p.G453Dc.1358G>ASubstitution - Missense
ZBTB18ENSG00000179456ENST00000358704p.G453Dc.1358G>ASubstitution - Missense
SLC17A8ENSG00000179520ENST00000323346p.S552Sc.1656C>TSubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.I732Tc.2195T>CSubstitution - Missense
GRIK3ENSG00000163873ENST00000373091p.V333Vc.999G>TSubstitution - coding silent
NCDNENSG00000020129ENST00000373243p.S236Sc.708C>TSubstitution - coding silent
NCDNENSG00000020129ENST00000373253p.S219Sc.657C>TSubstitution - coding silent
HCRTR1ENSG00000121764ENST00000373706p.R162Cc.484C>TSubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.V799Fc.2395G>TSubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.?c.1656-6T>CUnknown
CROCCENSG00000058453ENST00000375541p.Q1790Qc.5370G>ASubstitution - coding silent
KIFAP3ENSG00000075945ENST00000361580p.H234Nc.700C>ASubstitution - Missense
KIFAP3ENSG00000075945ENST00000538366p.H156Nc.466C>ASubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.R466fs*18c.1397delGDeletion - Frameshift
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
ZFC3H1ENSG00000133858ENST00000378743p.Q1092Qc.3276A>GSubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.E1665Ec.4995A>GSubstitution - coding silent
CSRP3ENSG00000129170ENST00000265968p.?c.282-4A>CUnknown
KDELC2ENSG00000178202ENST00000323468p.E320Ec.960G>ASubstitution - coding silent
SLC35F2ENSG00000110660ENST00000525815p.V327Vc.981G>ASubstitution - coding silent
ASPMENSG00000066279ENST00000367409p.I2670Tc.8009T>CSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.T2499Tc.7497A>GSubstitution - coding silent
CFHR5ENSG00000134389ENST00000256785p.V293Ac.878T>CSubstitution - Missense
CFHR5ENSG00000134389ENST00000367414p.V317Ac.950T>CSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.Q27Kc.79C>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.P242Pc.726C>ASubstitution - coding silent
SYT17ENSG00000103528ENST00000355377p.P150Pc.450C>TSubstitution - coding silent
FAM208BENSG00000108021ENST00000328090p.?c.146+6T>GUnknown
PCDH15ENSG00000150275ENST00000414778p.I1643Ic.4929T>ASubstitution - coding silent
GDF2ENSG00000128802ENST00000249598p.G247Vc.740G>TSubstitution - Missense
RGMAENSG00000182175ENST00000557301p.A351Tc.1051G>ASubstitution - Missense
RGMAENSG00000182175ENST00000329082p.A343Tc.1027G>ASubstitution - Missense
FESENSG00000182511ENST00000328850p.G418Ec.1253G>ASubstitution - Missense
FESENSG00000182511ENST00000328850p.G418Ec.1253G>ASubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.T668Tc.2004G>ASubstitution - coding silent
TM7SF2ENSG00000149809ENST00000279263p.G6Gc.18C>ASubstitution - coding silent
NM_001002762.1p.E9Dc.27G>TSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.S783Sc.2349C>TSubstitution - coding silent
NLRP8ENSG00000179709ENST00000291971p.R96Rc.288C>TSubstitution - coding silent
IPO13ENSG00000117408ENST00000372343p.I764Vc.2290A>GSubstitution - Missense
PI4KBENSG00000143393ENST00000368875p.S791Sc.2373C>TSubstitution - coding silent
TNFRSF1BENSG00000028137ENST00000376259p.C110Fc.329G>TSubstitution - Missense
TNFRSF1BENSG00000028137ENST00000376259p.T111Sc.331A>TSubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.E936Qc.2806G>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.P784Sc.2350C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.P784Sc.2350C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.P784Sc.2350C>TSubstitution - Missense
PAX9ENSG00000198807ENST00000402703p.H196Hc.588C>TSubstitution - coding silent
NM_152233.1p.V165Vc.495C>ASubstitution - coding silent
NM_032105.1p.R462Kc.1385G>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.S1428Gc.4282A>GSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.L344Lc.1032C>ASubstitution - coding silent
GRM5ENSG00000168959ENST00000305432p.L344Lc.1032C>ASubstitution - coding silent
ALDH1A2ENSG00000128918ENST00000249750p.I238Vc.712A>GSubstitution - Missense
HDCENSG00000140287ENST00000267845p.?c.720+9G>AUnknown
SLC45A3ENSG00000158715ENST00000367145p.L237Fc.711G>TSubstitution - Missense
KLHDC8AENSG00000162873ENST00000367155p.P164Pc.492G>ASubstitution - coding silent
OPTCENSG00000188770ENST00000367222p.P217Pc.651C>TSubstitution - coding silent
PRELPENSG00000188783ENST00000343110p.D57Dc.171C>TSubstitution - coding silent
GPR133ENSG00000111452ENST00000261654p.T793Tc.2379G>CSubstitution - coding silent
LRP6ENSG00000070018ENST00000261349p.I1144Mc.3432C>GSubstitution - Missense
MCOLN3ENSG00000055732ENST00000370589p.M1Rc.2T>GSubstitution - Missense
MCOLN3ENSG00000055732ENST00000370587p.M1Rc.2T>GSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.A810Ac.2430G>ASubstitution - coding silent
MSH4ENSG00000057468ENST00000263187p.Q701Hc.2103G>TSubstitution - Missense
ANGPTL3ENSG00000132855ENST00000371129p.L216Pc.647T>CSubstitution - Missense
C1orf87ENSG00000162598ENST00000371201p.L360Lc.1080G>ASubstitution - coding silent
SLC24A4ENSG00000140090ENST00000298877p.G318Gc.954A>CSubstitution - coding silent
SLC24A4ENSG00000140090ENST00000532405p.V425Vc.1275C>GSubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.S6878Ac.20632T>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000458046p.S527Yc.1580C>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.S6878Sc.20634C>ASubstitution - coding silent
SYNE2ENSG00000054654ENST00000458046p.S527Sc.1581C>ASubstitution - coding silent
WDR25ENSG00000176473ENST00000335290p.A315Ac.945G>ASubstitution - coding silent
SLC2A5ENSG00000142583ENST00000377424p.L284Lc.852C>TSubstitution - coding silent
NIPBLENSG00000164190ENST00000448238p.T1533Kc.4598C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E3419Ec.10257G>ASubstitution - coding silent
PAX1ENSG00000125813ENST00000398485p.L161Vc.481C>GSubstitution - Missense
EEF1B2ENSG00000114942ENST00000236957p.?c.80_81-2del528Unknown
INO80DENSG00000114933ENST00000403263p.E928Vc.2783A>TSubstitution - Missense
CWC22ENSG00000163510ENST00000410053p.R644Rc.1932G>ASubstitution - coding silent
FBP2ENSG00000130957ENST00000375337p.D3Hc.7G>CSubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.L499Lc.1497G>ASubstitution - coding silent
PALMENSG00000099864ENST00000338448p.R270Rc.808C>ASubstitution - coding silent
INSRENSG00000171105ENST00000302850p.G1032Gc.3096C>TSubstitution - coding silent
LRCH2ENSG00000130224ENST00000317135p.N342Nc.1026T>CSubstitution - coding silent
NM_020871.2p.N342Nc.1026T>CSubstitution - coding silent
ENST00000399211p.V349Ac.1046T>CSubstitution - Missense
ENST00000399211_v68p.V349Ac.1046T>CSubstitution - Missense
HS3ST3A1ENSG00000153976ENST00000284110p.S282Sc.846G>ASubstitution - coding silent
TDRD12ENSG00000173809ENST00000444215p.P466Pc.1398T>ASubstitution - coding silent
ZNF99ENSG00000213973ENST00000397104p.E393Dc.1179A>TSubstitution - Missense
ENST00000428290_v65p.G981Vc.2942G>TSubstitution - Missense
RBM38ENSG00000132819ENST00000356208p.L165Lc.495G>ASubstitution - coding silent
FAM210BENSG00000124098ENST00000371384p.T68Tc.204G>CSubstitution - coding silent
KLK6ENSG00000167755ENST00000310157p.N67fs*27c.198delGDeletion - Frameshift
ENST00000381895_v71p.D180fs*3c.538_539insGInsertion - Frameshift
ZBTB5ENSG00000168795ENST00000307750p.M521Tc.1562T>CSubstitution - Missense
ENST00000423537_v68p.P21Hc.62C>ASubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.R778Wc.2332C>TSubstitution - Missense
GALTENSG00000213930ENST00000378842p.?c.1059+3C>AUnknown
PSKH2ENSG00000147613ENST00000276616p.S116Rc.348C>GSubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.D440Vc.1319A>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.Q1131Hc.3393G>CSubstitution - Missense
SPATA6LENSG00000106686ENST00000381895p.D303fs*3c.907_908insGInsertion - Frameshift
ENSG00000167524ENST00000301037p.G176Rc.526G>ASubstitution - Missense
SU_SgK494p.G215Rc.643G>ASubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.R1047Wc.3139C>TSubstitution - Missense
DSC3ENSG00000134762ENST00000360428p.Q430Qc.1290A>GSubstitution - coding silent
SECTM1ENSG00000141574ENST00000269389p.?c.404-6C>AUnknown
PPLENSG00000118898ENST00000345988p.G155Gc.465G>CSubstitution - coding silent
SEPT12ENSG00000140623ENST00000268231p.V192Vc.576G>TSubstitution - coding silent
AFMENSG00000079557ENST00000226355p.F38Cc.113T>GSubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.S321Cc.961A>TSubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.Q50Qc.150A>GSubstitution - coding silent
USP25ENSG00000155313ENST00000400183p.S836Sc.2508T>CSubstitution - coding silent
KRT23ENSG00000108244ENST00000209718p.G39Ec.116G>ASubstitution - Missense
NAGPAENSG00000103174ENST00000312251p.V423Ic.1267G>ASubstitution - Missense
ABT1ENSG00000146109ENST00000274849p.Y69Fc.206A>TSubstitution - Missense
GABRA2ENSG00000151834ENST00000356504p.?c.559+10G>CUnknown
FBXL6ENSG00000182325ENST00000331890p.M189Tc.566T>CSubstitution - Missense
SHARPINENSG00000179526ENST00000398712p.G118Vc.353G>TSubstitution - Missense
ZSCAN25ENSG00000197037ENST00000394152p.K432_Q447>15c.1295_1340>43Unknown
ARPC1AENSG00000241685ENST00000432884p.L99Fc.295C>TSubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.V308Vc.924A>TSubstitution - coding silent
PTPN2ENSG00000175354ENST00000309660p.?c.161-10C>GUnknown
RCVRNENSG00000109047ENST00000226193p.?c.493+6T>CUnknown
SERPINB4ENSG00000206073ENST00000341074p.N306Dc.916A>GSubstitution - Missense
NM_052947p.E527Kc.1579G>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.V1523Ic.4567G>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.V1245Ic.3733G>ASubstitution - Missense
PPP1R16AENSG00000160972ENST00000292539p.A191Ac.573C>GSubstitution - coding silent
TSSK2ENSG00000206203ENST00000399635p.V14Ac.41T>CSubstitution - Missense
CECR5ENSG00000069998ENST00000336737p.?c.936-3C>TUnknown
DUSP15ENSG00000149599ENST00000339738p.N80Sc.239A>GSubstitution - Missense
DUSP15ENSG00000149599ENST00000278979p.N77Sc.230A>GSubstitution - Missense
TMC2ENSG00000149488ENST00000358864p.?c.2180+5A>GUnknown
PER2ENSG00000132326ENST00000254657p.P935Lc.2804C>TSubstitution - Missense
DNASE1ENSG00000213918ENST00000246949p.P254Ac.760C>GSubstitution - Missense
ZNF720ENSG00000197302ENST00000399681p.F121Yc.362T>ASubstitution - Missense
ITGADENSG00000156886ENST00000389202p.?c.1838+3A>TUnknown
ANKRD36ENSG00000135976ENST00000420699p.?c.2450-9G>AUnknown
ANKRD36ENSG00000135976ENST00000461153p.?c.2246-9G>AUnknown
AQP12BENSG00000185176ENST00000407834p.A168Sc.502G>TSubstitution - Missense
LILRB5ENSG00000105609ENST00000450632p.A36Ac.108C>ASubstitution - coding silent
ZNF415ENSG00000170954ENST00000243643p.K245Qc.733A>CSubstitution - Missense
ENST00000358133p.T86Ic.257C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.H1567Qc.4701C>GSubstitution - Missense
SLC5A4ENSG00000100191ENST00000266086p.P129Lc.386C>TSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.V141Fc.421G>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.V123Fc.367G>TSubstitution - Missense
IGHV1OR21-1ENSG00000169861ENST00000302092p.S50Cc.148A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1129Tc.3385G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L1761Pc.5282T>CSubstitution - Missense
ENST00000405167p.L1761Pc.5282T>CSubstitution - Missense
POLBENSG00000070501ENST00000265421p.A42Sc.124G>TSubstitution - Missense
POLBENSG00000070501ENST00000265421p.A42Sc.124G>TSubstitution - Missense
MEPEENSG00000152595ENST00000361056p.P437Tc.1309C>ASubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.G1258Rc.3772G>ASubstitution - Missense
CMSS1ENSG00000184220ENST00000421999p.Y103Yc.309T>CSubstitution - coding silent
DUXAENSG00000258873ENST00000554048p.D4Vc.11A>TSubstitution - Missense
ZNF583ENSG00000198440ENST00000291598p.G292Gc.876A>TSubstitution - coding silent
BMP15ENSG00000130385ENST00000252677p.A39Ac.117C>ASubstitution - coding silent
ENST00000391338_v68p.A27Tc.79G>ASubstitution - Missense
ZRSR1ENSG00000212643ENST00000391338p.A27Tc.79G>ASubstitution - Missense
HLTFENSG00000071794ENST00000310053p.L864Qc.2591T>ASubstitution - Missense
SPRENSG00000116096ENST00000234454p.R150Gc.448A>GSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.R848Rc.2544T>CSubstitution - coding silent
GPR126ENSG00000112414ENST00000367609p.S203Sc.609C>TSubstitution - coding silent
GPR126ENSG00000112414ENST00000296932p.S203Sc.609C>TSubstitution - coding silent
PRDM9ENSG00000164256ENST00000296682p.C216Fc.647G>TSubstitution - Missense
TRIM7ENSG00000146054ENST00000274773p.L256Lc.768C>TSubstitution - coding silent
EGFENSG00000138798ENST00000265171p.?c.738-2A>GUnknown
STK31ENSG00000196335ENST00000355870p.E433*c.1297G>TSubstitution - Nonsense
DNAH11ENSG00000105877ENST00000328843p.P2790Pc.8370C>TSubstitution - coding silent
IL1RAPL1ENSG00000169306ENST00000378993p.E205Dc.615A>CSubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.E205Dc.615A>CSubstitution - Missense
XM_293407.3p.L97Lc.289T>CSubstitution - coding silent
ABCB1ENSG00000085563ENST00000265724p.H612Dc.1834C>GSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.K214Kc.642A>GSubstitution - coding silent
SP100ENSG00000067066ENST00000340126p.Q631Rc.1892A>GSubstitution - Missense
SP100ENSG00000067066ENST00000264052p.Q631Rc.1892A>GSubstitution - Missense
EPB41L5ENSG00000115109ENST00000263713p.?c.1222-1G>AUnknown
EPB41L5ENSG00000115109ENST00000443124p.?c.1222-1G>AUnknown
ALDH1L1ENSG00000144908ENST00000393434p.?c.630+7G>TUnknown
ALDH1L1ENSG00000144908ENST00000455064p.?c.105+7G>TUnknown
BMP10ENSG00000163217ENST00000295379p.E221Ec.663G>ASubstitution - coding silent
ETAA1ENSG00000143971ENST00000272342p.I849fs*29c.2545_2546insAInsertion - Frameshift
RPL10AENSG00000198755ENST00000322203p.V80Vc.240G>TSubstitution - coding silent
SMARCC1ENSG00000173473ENST00000254480p.R433Rc.1297C>ASubstitution - coding silent
NBEAL2ENSG00000160796ENST00000292309p.H1640Nc.4918C>ASubstitution - Missense
LARS2ENSG00000011376ENST00000265537p.S315Sc.945G>ASubstitution - coding silent
CLIP2ENSG00000106665ENST00000223398p.A33Ac.99G>ASubstitution - coding silent
CLIP2ENSG00000106665ENST00000361545p.A33Ac.99G>ASubstitution - coding silent
NM_001371.1p.L3513Lc.10539C>TSubstitution - coding silent
VCX3BENSG00000205642ENST00000381029p.S29fs*1c.84_85delCADeletion - Frameshift
TAF1ENSG00000147133ENST00000276072p.?c.774+5A>GUnknown
TAF1ENSG00000147133ENST00000373790p.?c.711+5A>GUnknown
ENST00000380689p.T233Mc.698C>TSubstitution - Missense
ZNF768ENSG00000169957ENST00000380412p.F229Lc.687T>GSubstitution - Missense
PKMYT1ENSG00000127564ENST00000262300p.V289Mc.865G>ASubstitution - Missense
CCDC8ENSG00000169515ENST00000307522p.D54Nc.160G>ASubstitution - Missense
CD86ENSG00000114013ENST00000330540p.P139Pc.417T>CSubstitution - coding silent
NM_006596.3p.P1894Rc.5681C>GSubstitution - Missense
WDR52ENSG00000206530ENST00000295868p.?c.2298+8A>TUnknown
CXCL14ENSG00000145824ENST00000337225p.?c.320+5G>TUnknown
MFSD10ENSG00000109736ENST00000355443p.A410Tc.1228G>ASubstitution - Missense
FYNENSG00000010810ENST00000354650p.?c.547+6A>TUnknown
FYNENSG00000010810ENST00000354650p.?c.547+5G>AUnknown
EIF3DENSG00000100353ENST00000216190p.?c.465+3A>TUnknown
EIF3DENSG00000100353ENST00000432675p.V156Vc.468A>TSubstitution - coding silent
NETO1ENSG00000166342ENST00000397929p.G108Vc.323G>TSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.H1150Yc.3448C>TSubstitution - Missense
ENPP2ENSG00000136960ENST00000522826p.S56Tc.166T>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.G1907Ac.5720G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.G1867Ac.5600G>CSubstitution - Missense
SUZ12ENSG00000178691ENST00000322652p.N517Nc.1551C>TSubstitution - coding silent
ME1ENSG00000065833ENST00000369705p.?c.1027-2A>TUnknown
IBTKENSG00000005700ENST00000306270p.?c.2913-1G>AUnknown
COL12A1ENSG00000111799ENST00000322507p.G1164Gc.3492A>CSubstitution - coding silent
MEOX1ENSG00000005102ENST00000318579p.T140Tc.420T>ASubstitution - coding silent
STON1-GTF2A1LENSG00000068781ENST00000394754p.P128Pc.384A>GSubstitution - coding silent
STON1ENSG00000243244ENST00000309835p.P128Pc.384A>GSubstitution - coding silent
ZNF568ENSG00000198453ENST00000333987p.K209fs*11c.622delGDeletion - Frameshift
ENST00000576222_v68p.A233Sc.697G>TSubstitution - Missense
AXLENSG00000167601ENST00000359092p.A162Dc.485C>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.A556Ac.1668T>CSubstitution - coding silent
MAP3K10ENSG00000130758ENST00000253055p.P849Pc.2547T>ASubstitution - coding silent
PAK4ENSG00000130669ENST00000358301p.S247_R248insSc.741_742insTCCInsertion - In frame
SPATA31D1ENSG00000214929ENST00000344803p.L879Fc.2637G>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.L879Fc.2637G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.R1801Sc.5403G>TSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.S175Sc.525T>GSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.D1543Dc.4629C>TSubstitution - coding silent
OTTHUMT00000129563.1p.P311Pc.933C>GSubstitution - coding silent
ENSG00000196987ENST00000357566p.P143Ac.427C>GSubstitution - Missense
URGCPENSG00000106608ENST00000453200p.G634Gc.1902G>TSubstitution - coding silent
URGCPENSG00000106608ENST00000223341p.G591Gc.1773G>TSubstitution - coding silent
DPY19L1ENSG00000173852ENST00000310974p.Q265*c.793C>TSubstitution - Nonsense
TBX20ENSG00000164532ENST00000408931p.S353Sc.1059T>GSubstitution - coding silent
OR5V1ENSG00000243729ENST00000377154p.T48Tc.144G>TSubstitution - coding silent
PRSS16ENSG00000112812ENST00000230582p.G44Gc.132C>ASubstitution - coding silent
GIMAP1ENSG00000213203ENST00000307194p.A285Pc.853G>CSubstitution - Missense
ACTR3CENSG00000106526ENST00000252071p.F74Yc.221T>ASubstitution - Missense
CLCN1ENSG00000188037ENST00000343257p.H54Rc.161A>GSubstitution - Missense
CLCN1ENSG00000188037ENST00000343257p.L573Vc.1717C>GSubstitution - Missense
NAMPTENSG00000105835ENST00000222553p.G292Gc.876T>CSubstitution - coding silent
CSNK2BENSG00000204435ENST00000375866p.L82Mc.244T>ASubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.A624Dc.1871C>ASubstitution - Missense
ENST00000285279_v68p.T160Mc.479C>TSubstitution - Missense
VOPP1ENSG00000154978ENST00000285279p.H122Hc.366C>TSubstitution - coding silent
RAMP3ENSG00000122679ENST00000242249p.A77Sc.229G>TSubstitution - Missense
PCSK4ENSG00000115257ENST00000300954p.D184Nc.550G>ASubstitution - Missense
WFDC8ENSG00000158901ENST00000289953p.R5Rc.15A>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.T1252Ac.3754A>GSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.T860Ac.2578A>GSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.A1301Gc.3902C>GSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.A1166Gc.3497C>GSubstitution - Missense
WIZENSG00000011451ENST00000263381p.E31Ec.93G>ASubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.C377Fc.1130G>TSubstitution - Missense
EXOC1ENSG00000090989ENST00000346134p.G772Rc.2314G>ASubstitution - Missense
SGCBENSG00000163069ENST00000381431p.R51Cc.151C>TSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.L509Lc.1525T>CSubstitution - coding silent
TTC21BENSG00000123607ENST00000243344p.V559Vc.1677G>CSubstitution - coding silent
TMEM211ENSG00000206069ENST00000423535p.A188Pc.562G>CSubstitution - Missense
CRKLENSG00000099942ENST00000354336p.C44Cc.132C>TSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
NM_144488.2p.P666Pc.1998C>TSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.A103Gc.308C>GSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.K1223*c.3667A>TSubstitution - Nonsense
GSDMCENSG00000147697ENST00000276708p.Q35Qc.105G>ASubstitution - coding silent
SLIT3ENSG00000184347ENST00000519560p.?c.1459+9G>TUnknown
CLDN22ENSG00000177300ENST00000323319p.L166Vc.496C>GSubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.V1199Lc.3595G>TSubstitution - Missense
CEP44ENSG00000164118ENST00000296519p.Q225Kc.673C>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.T556Pc.1666A>CSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.T556Pc.1666A>CSubstitution - Missense
PHYHD1ENSG00000175287ENST00000308941p.F121Fc.363C>TSubstitution - coding silent
PITRM1ENSG00000107959ENST00000224949p.G804Gc.2412T>GSubstitution - coding silent
INPP5FENSG00000198825ENST00000369080p.S466Tc.1397G>CSubstitution - Missense
IQSEC3ENSG00000120645ENST00000382841p.N632Sc.1895A>GSubstitution - Missense
CLIC5ENSG00000112782ENST00000339561p.L152Lc.456G>TSubstitution - coding silent
TMEM63BENSG00000137216ENST00000259746p.V307Lc.919G>TSubstitution - Missense
OR5AP2ENSG00000172464ENST00000302981p.S99Sc.297T>GSubstitution - coding silent
PPP2R1BENSG00000137713ENST00000527614p.K578*c.1732A>TSubstitution - Nonsense
KDELC2ENSG00000178202ENST00000434945p.E264Ec.792G>ASubstitution - coding silent
DENND2CENSG00000175984ENST00000393274p.K128Ec.382A>GSubstitution - Missense
IQSEC3ENSG00000120645ENST00000382841p.E631Dc.1893G>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.H31Pc.92A>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.N33Hc.97A>CSubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.E733Ec.2199A>GSubstitution - coding silent
GRIK3ENSG00000163873ENST00000373093p.V333Vc.999G>TSubstitution - coding silent
HCRTR1ENSG00000121764ENST00000373705p.R162Cc.484C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.T4788Ic.14363C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.A1238Sc.3712G>TSubstitution - Missense
SYT14ENSG00000143469ENST00000422431p.Q288Qc.864A>GSubstitution - coding silent
SYT14ENSG00000143469ENST00000534859p.Q243Qc.729A>GSubstitution - coding silent
ASTN1ENSG00000152092ENST00000367654p.R270Cc.808C>TSubstitution - Missense
TTC23ENSG00000103852ENST00000394130p.R376Cc.1126C>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.S3241Ac.9721T>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.S3241Yc.9722C>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.S3241Sc.9723C>ASubstitution - coding silent
RTL1ENSG00000254656ENST00000534062p.K569Qc.1705A>CSubstitution - Missense
SPTBN4ENSG00000160460ENST00000344104p.A556Ac.1668T>CSubstitution - coding silent
DMKNENSG00000161249ENST00000429837p.H256Qc.768C>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.G1177Sc.3529G>ASubstitution - Missense
HMHA1ENSG00000180448ENST00000536472p.Y664*c.1992C>GSubstitution - Nonsense
SDK2ENSG00000069188ENST00000392650p.P402Rc.1205C>GSubstitution - Missense
COL3A1ENSG00000168542ENST00000317840p.V160Fc.478G>TSubstitution - Missense
KIAA1715ENSG00000144320ENST00000544803p.V123Fc.367G>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000455322p.D243Gc.728A>GSubstitution - Missense
THNSL2ENSG00000144115ENST00000343544p.L128Pc.383T>CSubstitution - Missense
SNX6ENSG00000129515ENST00000362031p.V177Vc.531C>ASubstitution - coding silent
ENST00000328843_v70p.P2790Pc.8370C>TSubstitution - coding silent
HIPK2ENSG00000064393ENST00000342645p.V308Vc.924A>TSubstitution - coding silent
ASZ1ENSG00000154438ENST00000284629p.L136Lc.408T>ASubstitution - coding silent
CLIC5ENSG00000112782ENST00000544153p.L152Lc.456G>TSubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.L3730Lc.11190C>TSubstitution - coding silent
SLC17A2ENSG00000112337ENST00000377850p.G155Dc.464G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.R1394Sc.4182G>TSubstitution - Missense
PON2ENSG00000105854ENST00000536183p.K180Ec.538A>GSubstitution - Missense
MAGI2ENSG00000187391ENST00000535697p.K51Kc.153A>GSubstitution - coding silent
CCDC129ENSG00000180347ENST00000451887p.V734Ic.2200G>ASubstitution - Missense
RETENSG00000165731ENST00000340058p.N151Sc.452A>GSubstitution - Missense
CENPIENSG00000102384ENST00000423383p.D419Nc.1255G>ASubstitution - Missense
DCTDENSG00000129187ENST00000438320p.V64Lc.190G>TSubstitution - Missense
DNAJC6ENSG00000116675ENST00000395325p.E397Kc.1189G>ASubstitution - Missense
NYAP2ENSG00000144460ENST00000272907p.R522Cc.1564C>TSubstitution - Missense
WDFY4ENSG00000128815ENST00000360890p.D579Yc.1735G>TSubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.G336Rc.1006G>ASubstitution - Missense
INSRENSG00000171105ENST00000302850p.G1032Gc.3096C>TSubstitution - coding silent
PTGFRENSG00000122420ENST00000370756p.A181Ac.543G>ASubstitution - coding silent
DCTN1ENSG00000204843ENST00000361874p.Q1076Qc.3228G>ASubstitution - coding silent
RIPK4ENSG00000183421ENST00000352483p.R192Cc.574C>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.H2263Nc.6787C>ASubstitution - Missense
ZNF785ENSG00000197162ENST00000395216p.L5Lc.15G>ASubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.P1541Tc.4621C>ASubstitution - Missense
AXLENSG00000167601ENST00000301178p.A162Dc.485C>ASubstitution - Missense
C8GENSG00000176919ENST00000224181p.?c.595+9A>GUnknown
CCDC129ENSG00000180347ENST00000319386p.V560Ic.1678G>ASubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.D903Hc.2707G>CSubstitution - Missense
ENST00000238522p.Q2852*c.8554C>TSubstitution - Nonsense
THNSL2ENSG00000144115ENST00000324166p.L128Pc.383T>CSubstitution - Missense
BAZ1BENSG00000009954ENST00000339594p.K432Ic.1295A>TSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.A1824Tc.5470G>ASubstitution - Missense
NRF1ENSG00000106459ENST00000393231p.T123Sc.367A>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000545861p.D11Gc.32A>GSubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.E450Ec.1350A>GSubstitution - coding silent
CCDC41ENSG00000173588ENST00000339839p.K465Tc.1394A>CSubstitution - Missense
ENST00000432996p.?c.2202+1G>TUnknown
IQSEC3ENSG00000120645ENST00000382841p.E633Qc.1897G>CSubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.H481Hc.1443T>CSubstitution - coding silent
NTHL1ENSG00000065057ENST00000219066p.T167Ic.500C>TSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.T787Tc.2361G>ASubstitution - coding silent
RIPK4ENSG00000183421ENST00000332512p.R192Cc.574C>TSubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.R1047Wc.3139C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382286p.Q201Hc.603G>CSubstitution - Missense
MYOCDENSG00000141052ENST00000425538p.R103*c.307C>TSubstitution - Nonsense
TRIM7ENSG00000146054ENST00000393319p.L74Lc.222C>TSubstitution - coding silent
ZSCAN5CENSG00000204532ENST00000534327p.P203Pc.609A>GSubstitution - coding silent
ENST00000411420p.P60Ac.178C>GSubstitution - Missense
MFSD3ENSG00000167700ENST00000301327p.K275Kc.825G>ASubstitution - coding silent
PON2ENSG00000105854ENST00000222572p.K159Ec.475A>GSubstitution - Missense
ZNF92ENSG00000146757ENST00000328747p.A461Tc.1381G>ASubstitution - Missense
WSCD2ENSG00000075035ENST00000261400p.K15Nc.45A>CSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.A4417Vc.13250C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.T4782Ic.14345C>TSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000339313p.W180Lc.539G>TSubstitution - Missense
GLDCENSG00000178445ENST00000321612p.I864Tc.2591T>CSubstitution - Missense
OIT3ENSG00000138315ENST00000334011p.Y362Sc.1085A>CSubstitution - Missense
APBB2ENSG00000163697ENST00000513140p.S273Ic.818G>TSubstitution - Missense
IL1F10ENSG00000136697ENST00000393197p.G76Ec.227G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000502484p.P80Lc.239C>TSubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.S1037Fc.3110C>TSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.S1275Pc.3823T>CSubstitution - Missense
EDN2ENSG00000127129ENST00000372587p.F109Fc.327C>TSubstitution - coding silent
FRMPD1ENSG00000070601ENST00000541302p.G205Rc.613G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000381285p.Q50Qc.150A>GSubstitution - coding silent
PADI4ENSG00000159339ENST00000375448p.H538Lc.1613A>TSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.Q27Kc.79C>ASubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.R737Rc.2211G>ASubstitution - coding silent
GPR52ENSG00000203737ENST00000367685p.I62Lc.184A>CSubstitution - Missense
C1orf101ENSG00000179397ENST00000366534p.K80*c.238A>TSubstitution - Nonsense
NIPBLENSG00000164190ENST00000282516p.T1533Kc.4598C>ASubstitution - Missense
NIPA2ENSG00000140157ENST00000359727p.V174Vc.522C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000402845p.P814Sc.2440C>TSubstitution - Missense
ENST00000257034p.V166Lc.496G>TSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.E1665Ec.4995A>GSubstitution - coding silent
ULK4ENSG00000168038ENST00000301831p.A682Ac.2046C>TSubstitution - coding silent
GABRG1ENSG00000163285ENST00000295452p.Y189Sc.566A>CSubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.A233Sc.697G>TSubstitution - Missense
RNF43ENSG00000108375ENST00000407977p.S693Sc.2079C>TSubstitution - coding silent
CCDC171ENSG00000164989ENST00000380701p.T966Mc.2897C>TSubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.R660Cc.1978C>TSubstitution - Missense
ENST00000406302p.R462Kc.1385G>ASubstitution - Missense
ENSG00000173862ENST00000311067p.G134Rc.400G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.P1787Pc.5361A>TSubstitution - coding silent
DLDENSG00000091140ENST00000205402p.S258Fc.773C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.G623Vc.1868G>TSubstitution - Missense
ENST00000346816p.R1272Sc.3816G>TSubstitution - Missense
NCANENSG00000130287ENST00000252575p.A339Tc.1015G>ASubstitution - Missense
STK32BENSG00000152953ENST00000282908p.P346Tc.1036C>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.C242Yc.725G>ASubstitution - Missense
ENST00000545858p.C149Yc.446G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000541859p.D12Gc.35A>GSubstitution - Missense
PROCENSG00000115718ENST00000453608p.G467Dc.1400G>ASubstitution - Missense
EML3ENSG00000149499ENST00000394773p.D793Nc.2377G>ASubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.S1653Sc.4959C>TSubstitution - coding silent
ARID4BENSG00000054267ENST00000264183p.K69Mc.206A>TSubstitution - Missense
GDF3ENSG00000184344ENST00000329913p.F148Lc.444C>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.?c.6004+9G>AUnknown
COL5A2ENSG00000204262ENST00000374866p.D694Yc.2080G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.P784Sc.2350C>TSubstitution - Missense
GPKOWENSG00000068394ENST00000156109p.R439Qc.1316G>ASubstitution - Missense
SIGLEC6ENSG00000105492ENST00000425629p.E6Ec.18A>GSubstitution - coding silent
KIAA1715ENSG00000144320ENST00000272748p.V123Fc.367G>TSubstitution - Missense
NUP93ENSG00000102900ENST00000308159p.L695Sc.2084T>CSubstitution - Missense
HOOK2ENSG00000095066ENST00000397668p.N71Kc.213T>ASubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.A851Tc.2551G>ASubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.H1150Yc.3448C>TSubstitution - Missense
VCX3BENSG00000205642ENST00000444481p.S29fs*1c.84_85delCADeletion - Frameshift
FOXA3ENSG00000170608ENST00000302177p.G325Gc.975G>ASubstitution - coding silent
CHRNDENSG00000135902ENST00000258385p.?c.820+6C>AUnknown
ADGBENSG00000118492ENST00000397944p.A304Gc.911C>GSubstitution - Missense
TRA2AENSG00000164548ENST00000297071p.H63Rc.188A>GSubstitution - Missense
CD300CENSG00000167850ENST00000330793p.F93Lc.277T>CSubstitution - Missense
ENST00000252900p.A198Ac.594G>ASubstitution - coding silent
ZNF527ENSG00000189164ENST00000356178p.E208Kc.622G>ASubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.I438Mc.1314C>GSubstitution - Missense
DUSP10ENSG00000143507ENST00000366899p.S70Sc.210G>ASubstitution - coding silent
CMYA5ENSG00000164309ENST00000446378p.Q2852*c.8554C>TSubstitution - Nonsense
ATP5BENSG00000110955ENST00000262030p.L86Mc.256C>ASubstitution - Missense
ENST00000326929p.A304Gc.911C>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.?c.1459+9G>TUnknown
CECR5ENSG00000069998ENST00000155674p.?c.846-3C>TUnknown
ZNF208ENSG00000160321ENST00000397126p.G1049Sc.3145G>ASubstitution - Missense
OR4K15ENSG00000169488ENST00000305051p.T272fs*19c.812_816delTCACTDeletion - Frameshift
TP53ENSG00000141510ENST00000455263p.C242Yc.725G>ASubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.Q1733Rc.5198A>GSubstitution - Missense
ENST00000322367p.P319Sc.955C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.P1070Lc.3209C>TSubstitution - Missense
POM121ENSG00000196313ENST00000434423p.R183_P187delRSPPPc.512_526del15Deletion - In frame
EML6ENSG00000214595ENST00000356458p.L1383Lc.4149T>ASubstitution - coding silent
CMBLENSG00000164237ENST00000296658p.S188Fc.563C>TSubstitution - Missense
ASZ1ENSG00000154438ENST00000284629p.?c.441-8C>TUnknown
CSMD3ENSG00000164796ENST00000343508p.?c.58+1G>AUnknown
MEI1ENSG00000167077ENST00000540833p.P23Lc.68C>TSubstitution - Missense
ENST00000370589_v70p.M1Rc.2T>GSubstitution - Missense
ENST00000263187_v70p.Q701Hc.2103G>TSubstitution - Missense
RGS3ENSG00000138835ENST00000343817p.P489Pc.1467C>TSubstitution - coding silent
CLIC5ENSG00000112782ENST00000185206p.L311Lc.933G>TSubstitution - coding silent
GPR146ENSG00000164849ENST00000397095p.A187Ac.561C>GSubstitution - coding silent
C1orf198ENSG00000119280ENST00000366663p.L61Lc.183G>ASubstitution - coding silent
UGGT2ENSG00000102595ENST00000376747p.?c.3558+7G>TUnknown
FAM221BENSG00000204930ENST00000388950p.P21Hc.62C>ASubstitution - Missense
MRPL45ENSG00000174100ENST00000312513p.D94Hc.280G>CSubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.H866Qc.2598C>ASubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.P1986Qc.5957C>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.S335Pc.1003T>CSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.?c.267+7A>GUnknown
ZNF217ENSG00000171940ENST00000371471p.P594Tc.1780C>ASubstitution - Missense
INO80DENSG00000114933ENST00000403263p.E823Vc.2468A>TSubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.A149Dc.446C>ASubstitution - Missense
MYT1ENSG00000196132ENST00000536311p.A149Dc.446C>ASubstitution - Missense
NEDD4LENSG00000049759ENST00000400345p.G921Rc.2761G>CSubstitution - Missense
DSPENSG00000096696ENST00000379802p.A385Ac.1155G>ASubstitution - coding silent
BOCENSG00000144857ENST00000355385p.T535Tc.1605C>TSubstitution - coding silent
ENST00000454161p.D588Yc.1762G>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.A103Gc.308C>GSubstitution - Missense
PHYHD1ENSG00000175287ENST00000372592p.F121Fc.363C>TSubstitution - coding silent
ASZ1ENSG00000154438ENST00000284629p.L136delLc.406_408delCTTDeletion - In frame
GZMBENSG00000100453ENST00000216341p.Q82Qc.246G>ASubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.A4379Vc.13136C>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.S402fs*8c.1202delTDeletion - Frameshift
HMHA1ENSG00000180448ENST00000313093p.Y796*c.2388C>GSubstitution - Nonsense
KIF17ENSG00000117245ENST00000247986p.C311Yc.932G>ASubstitution - Missense
CDCA7ENSG00000144354ENST00000306721p.R171Hc.512G>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.A339Tc.1015G>ASubstitution - Missense
WSCD2ENSG00000075035ENST00000332082p.K15Nc.45A>CSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.A484Sc.1450G>TSubstitution - Missense
DNAJB12ENSG00000148719ENST00000338820p.E43Dc.129G>TSubstitution - Missense
SAMHD1ENSG00000101347ENST00000262878p.L276Pc.827T>CSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.P312Pc.936A>GSubstitution - coding silent
ZNF525ENSG00000203326ENST00000474037p.Y257*c.771C>GSubstitution - Nonsense
MYH13ENSG00000006788ENST00000252172p.S1158Rc.3474T>ASubstitution - Missense
FAM167AENSG00000154319ENST00000284486p.R96Kc.287G>ASubstitution - Missense
EDIL3ENSG00000164176ENST00000296591p.R454Qc.1361G>ASubstitution - Missense
ZNF493ENSG00000196268ENST00000392288p.T63Sc.188C>GSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.K713Mc.2138A>TSubstitution - Missense
TOR1AENSG00000136827ENST00000351698p.F205Ic.613T>ASubstitution - Missense
AGMOENSG00000187546ENST00000342526p.E203Gc.608A>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
GPR141ENSG00000187037ENST00000334425p.L173Fc.517C>TSubstitution - Missense
ABRAENSG00000174429ENST00000311955p.A37fs*88c.109delGDeletion - Frameshift
PITRM1ENSG00000107959ENST00000424714p.G23Gc.69T>GSubstitution - coding silent
GPR149ENSG00000174948ENST00000389740p.R289Tc.866G>CSubstitution - Missense
SLC52A1ENSG00000132517ENST00000254853p.S381Lc.1142C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.P546Lc.1637C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.G623Vc.1868G>TSubstitution - Missense
NM_206943.1p.Y307Nc.919T>ASubstitution - Missense
NEDD4LENSG00000049759ENST00000382850p.G901Rc.2701G>CSubstitution - Missense
DMKNENSG00000161249ENST00000414866p.H30Qc.90C>GSubstitution - Missense
PEA15ENSG00000162734ENST00000368076p.M1Tc.2T>CSubstitution - Missense
SLCO1A2ENSG00000084453ENST00000307378p.C583Yc.1748G>ASubstitution - Missense
FBXL12ENSG00000127452ENST00000247977p.A299Ac.897G>TSubstitution - coding silent
CHD4ENSG00000111642ENST00000309577p.E1693Ec.5079A>GSubstitution - coding silent
PPP2R1BENSG00000137713ENST00000311129p.K578*c.1732A>TSubstitution - Nonsense
DCDC1ENSG00000170959ENST00000339794p.Y330Hc.988T>CSubstitution - Missense
CASP5ENSG00000137757ENST00000393141p.E331*c.991G>TSubstitution - Nonsense
TPSD1ENSG00000095917ENST00000211076p.?c.83-9C>TUnknown
BIRC6ENSG00000115760ENST00000421745p.H1567Qc.4701C>GSubstitution - Missense
ENST00000570743p.S1158Rc.3474T>ASubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.?c.1404+5G>TUnknown
ERCC3ENSG00000163161ENST00000285398p.S394Sc.1182C>TSubstitution - coding silent
ENST00000251268_v61p.T1319Ac.3955A>GSubstitution - Missense
GPATCH3ENSG00000198746ENST00000361720p.A439Tc.1315G>ASubstitution - Missense
ATP6V1AENSG00000114573ENST00000273398p.R459Lc.1376G>TSubstitution - Missense
KANSL1ENSG00000120071ENST00000262419p.L274Vc.820C>GSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.P1340Qc.4019C>ASubstitution - Missense
ENST00000395988p.R7*c.19C>TSubstitution - Nonsense
ITSN1ENSG00000205726ENST00000399338p.Q50Qc.150A>GSubstitution - coding silent
COBLL1ENSG00000082438ENST00000194871p.G835Rc.2503G>CSubstitution - Missense
MINPP1ENSG00000107789ENST00000371996p.?c.836-3C>TUnknown
PNPLA6ENSG00000032444ENST00000221249p.D1080Dc.3240C>TSubstitution - coding silent
GINS2ENSG00000131153ENST00000253462p.D133Dc.399C>TSubstitution - coding silent
NM_004347.1p.E302*c.904G>TSubstitution - Nonsense
ALPK2ENSG00000198796ENST00000361673p.E1166Kc.3496G>ASubstitution - Missense
POC1AENSG00000164087ENST00000296484p.K16Kc.48G>ASubstitution - coding silent
C9orf72ENSG00000147894ENST00000380003p.R264Rc.792G>ASubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.?c.513-10A>GUnknown
NBEAL2ENSG00000160796ENST00000292309p.S753Gc.2257A>GSubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.L172Lc.516A>GSubstitution - coding silent
NUCB1ENSG00000104805ENST00000263273p.E272Gc.815A>GSubstitution - Missense
C16orf54ENSG00000185905ENST00000329410p.A163fs*5c.486delCDeletion - Frameshift
DLDENSG00000091140ENST00000205402p.S258Fc.773C>TSubstitution - Missense
CSNK2BENSG00000204435ENST00000375866p.L82Fc.246G>CSubstitution - Missense
NUDCD1ENSG00000120526ENST00000239690p.M194Vc.580A>GSubstitution - Missense
ENPP2ENSG00000136960ENST00000259486p.S56Tc.166T>ASubstitution - Missense
GALNT2ENSG00000143641ENST00000366672p.D390Nc.1168G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.S1234Pc.3700T>CSubstitution - Missense
SPTBN4ENSG00000160460ENST00000344104p.L188Vc.562T>GSubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.N935Sc.2804A>GSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.G561Vc.1682G>TSubstitution - Missense
WIZENSG00000011451ENST00000389282p.E31Ec.93G>ASubstitution - coding silent
HEATR1ENSG00000119285ENST00000366582p.D342Nc.1024G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.L188Vc.562T>GSubstitution - Missense
KALRNENSG00000160145ENST00000291478p.C662Fc.1985G>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.G562Rc.1684G>CSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.S1375Rc.4125C>GSubstitution - Missense
ENST00000299136p.R127fs*18c.380delGDeletion - Frameshift
SCN4AENSG00000007314ENST00000435607p.?c.3913-10C>GUnknown
FAM205AENSG00000205108ENST00000378788p.R778Wc.2332C>TSubstitution - Missense
KCNB1ENSG00000158445ENST00000371741p.R736fs*4c.2199_2200insCInsertion - Frameshift
ZNF208ENSG00000160321ENST00000397126p.G981Vc.2942G>TSubstitution - Missense
COL3A1ENSG00000168542ENST00000304636p.V160Fc.478G>TSubstitution - Missense
RGS11ENSG00000076344ENST00000397770p.A156Gc.467C>GSubstitution - Missense
ANKRD30BENSG00000180777ENST00000447268p.P342Pc.1026T>ASubstitution - coding silent
GABRB1ENSG00000163288ENST00000295454p.D55Nc.163G>ASubstitution - Missense
TFF3ENSG00000160180ENST00000291525p.V90Lc.268G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.R1391Sc.4173G>TSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.K466Rc.1397A>GSubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.S1376Gc.4126A>GSubstitution - Missense
ENST00000428290_v65p.G1049Sc.3145G>ASubstitution - Missense
DNAJC6ENSG00000116675ENST00000371069p.E454Kc.1360G>ASubstitution - Missense
NM_007349.2p.L326Fc.978A>TSubstitution - Missense
KRT71ENSG00000139648ENST00000267119p.V54Fc.160G>TSubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.E1115Qc.3343G>CSubstitution - Missense
OR6N1ENSG00000197403ENST00000335094p.A109Ac.327G>TSubstitution - coding silent
RETENSG00000165731ENST00000355710p.N151Sc.452A>GSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.S402fs*8c.1202delTDeletion - Frameshift
KALRNENSG00000160145ENST00000360013p.C2359Fc.7076G>TSubstitution - Missense
PLEKHS1ENSG00000148735ENST00000369312p.D232Nc.694G>ASubstitution - Missense
FEZF1ENSG00000128610ENST00000442488p.E200*c.598G>TSubstitution - Nonsense
MAGEE1ENSG00000198934ENST00000361470p.L805Pc.2414T>CSubstitution - Missense
TNNENSG00000120332ENST00000239462p.D59Ec.177C>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000393245p.E495Dc.1485A>TSubstitution - Missense
SP140ENSG00000079263ENST00000392045p.?c.60-2A>TUnknown
DENND2CENSG00000175984ENST00000393276p.K128Ec.382A>GSubstitution - Missense
DNERENSG00000187957ENST00000341772p.Q354Hc.1062G>TSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.G1465Vc.4394G>TSubstitution - Missense
TNFRSF1BENSG00000028137ENST00000376259p.?c.1106-8C>AUnknown
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
FASLGENSG00000117560ENST00000367721p.P31Pc.93C>GSubstitution - coding silent
C1orf101ENSG00000179397ENST00000366533p.K80*c.238A>TSubstitution - Nonsense
DPP3ENSG00000254986ENST00000360510p.D3Yc.7G>TSubstitution - Missense
DSC1ENSG00000134765ENST00000257198p.V565Vc.1695T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.A8187Dc.24560C>ASubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.D87Yc.259G>TSubstitution - Missense
PTGFRENSG00000122420ENST00000370758p.A181Ac.543G>ASubstitution - coding silent
ENST00000405167p.A1129Tc.3385G>ASubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.H409Yc.1225C>TSubstitution - Missense
PTPRDENSG00000153707ENST00000355233p.R1395Sc.4185G>TSubstitution - Missense
KLHL18ENSG00000114648ENST00000232766p.?c.1338+9G>TUnknown
PTCD2ENSG00000049883ENST00000380639p.Q282Lc.845A>TSubstitution - Missense
IL1F10ENSG00000136697ENST00000337569p.G76Ec.227G>ASubstitution - Missense
MINPP1ENSG00000107789ENST00000536010p.?c.233-3C>TUnknown
PIK3CGENSG00000105851ENST00000440650p.W855Lc.2564G>TSubstitution - Missense
TMEM98ENSG00000006042ENST00000394642p.Q39Lc.116A>TSubstitution - Missense
ZNF266ENSG00000174652ENST00000361151p.A390Tc.1168G>ASubstitution - Missense
HNRNPMENSG00000099783ENST00000325495p.E433Qc.1297G>CSubstitution - Missense
NMBRENSG00000135577ENST00000258042p.S376Fc.1127C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.?c.711+5A>GUnknown
RIMBP2ENSG00000060709ENST00000536002p.A392Sc.1174G>TSubstitution - Missense
IFI16ENSG00000163565ENST00000295809p.K99Rc.296A>GSubstitution - Missense
NANOGENSG00000111704ENST00000229307p.H182Qc.546C>GSubstitution - Missense
PNPLA6ENSG00000032444ENST00000414982p.D1128Dc.3384C>TSubstitution - coding silent
SLC24A4ENSG00000140090ENST00000298877p.V408Vc.1224C>GSubstitution - coding silent
LILRB5ENSG00000105609ENST00000316219p.A36Ac.108C>ASubstitution - coding silent
ARPC1AENSG00000241685ENST00000262942p.L146Fc.436C>TSubstitution - Missense
DSC1ENSG00000134765ENST00000257197p.V565Vc.1695T>CSubstitution - coding silent
ADAM11ENSG00000073670ENST00000200557p.G157Wc.469G>TSubstitution - Missense
FYNENSG00000010810ENST00000368682p.?c.547+5G>AUnknown
TSPO2ENSG00000112212ENST00000373161p.S90Ic.269G>TSubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.E934Dc.2802G>CSubstitution - Missense
MRPS30ENSG00000112996ENST00000507110p.W210Cc.630G>TSubstitution - Missense
PAXIP1ENSG00000157212ENST00000404141p.L360Fc.1080A>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.N33Hc.97A>CSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.E1604*c.4810G>TSubstitution - Nonsense
MUC16ENSG00000181143ENST00000397910p.S5611Rc.16833C>ASubstitution - Missense
ENST00000331986p.S1244Rc.3732C>ASubstitution - Missense
NADSYN1ENSG00000172890ENST00000319023p.S399Cc.1195A>TSubstitution - Missense
ZP4ENSG00000116996ENST00000366570p.E116*c.346G>TSubstitution - Nonsense
CLASP1ENSG00000074054ENST00000397587p.D243Gc.728A>GSubstitution - Missense
MLF2ENSG00000089693ENST00000203630p.S240Sc.720C>GSubstitution - coding silent
ENST00000309024p.T668Tc.2004G>ASubstitution - coding silent
ADD3ENSG00000148700ENST00000356080p.P482Pc.1446T>GSubstitution - coding silent
FAM221BENSG00000204930ENST00000423537p.P21Hc.62C>ASubstitution - Missense
OR2T10ENSG00000184022ENST00000330500p.L135Lc.405C>GSubstitution - coding silent
DICER1ENSG00000100697ENST00000343455p.Q1269Qc.3807A>GSubstitution - coding silent
SYNE2ENSG00000054654ENST00000458046p.S527Ac.1579T>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.S6878Yc.20633C>ASubstitution - Missense
CYP4B1ENSG00000142973ENST00000271153p.G449fs*13c.1345_1346delGGDeletion - Frameshift
FBN1ENSG00000166147ENST00000316623p.C1263Fc.3788G>TSubstitution - Missense
ENST00000356559p.W47Rc.139T>ASubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.P667Lc.2000C>TSubstitution - Missense
NM_000947.2p.A234Dc.701C>ASubstitution - Missense
NETO1ENSG00000166342ENST00000327305p.G109Vc.326G>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.C242Yc.725G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.G561Vc.1682G>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.S335Pc.1003T>CSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.C623Yc.1868G>ASubstitution - Missense
SMC2ENSG00000136824ENST00000303219p.K466Rc.1397A>GSubstitution - Missense
GABRA2ENSG00000151834ENST00000540012p.?c.394+10G>CUnknown
OR6F1ENSG00000169214ENST00000302084p.I92Ic.276A>TSubstitution - coding silent
GDF3ENSG00000184344ENST00000329913p.L149Qc.446T>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000541302p.G679Vc.2036G>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.G1109Vc.3326G>TSubstitution - Missense
SLC24A4ENSG00000140090ENST00000532405p.G335Gc.1005A>CSubstitution - coding silent
CDH8ENSG00000150394ENST00000577390p.R431Wc.1291C>TSubstitution - Missense
MEI1ENSG00000167077ENST00000300398p.P283Lc.848C>TSubstitution - Missense
NSUN2ENSG00000037474ENST00000264670p.L631Lc.1891T>CSubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.L3513Lc.10539C>TSubstitution - coding silent
DMKNENSG00000161249ENST00000419602p.H256Qc.768C>GSubstitution - Missense
MRPS30ENSG00000112996ENST00000507110p.W210Cc.630G>TSubstitution - Missense
LDLRAD3ENSG00000179241ENST00000315571p.Q287Lc.860A>TSubstitution - Missense
NRG3ENSG00000185737ENST00000372142p.T313Tc.939T>CSubstitution - coding silent
CCDC129ENSG00000180347ENST00000407970p.V708Ic.2122G>ASubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.G155Dc.464G>ASubstitution - Missense
SLC2A9ENSG00000109667ENST00000309065p.L232Fc.696G>TSubstitution - Missense
ENST00000319379p.P4497Qc.13490C>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.P4552Qc.13655C>ASubstitution - Missense
FAM210BENSG00000124098ENST00000371384p.G69Wc.205G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C242Yc.725G>ASubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.R820Wc.2458C>TSubstitution - Missense
PTPN2ENSG00000175354ENST00000327283p.?c.161-10C>GUnknown
DSC3ENSG00000134762ENST00000434452p.Q430Qc.1290A>GSubstitution - coding silent
CPDENSG00000108582ENST00000225719p.Q497Ec.1489C>GSubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.P594Tc.1780C>ASubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.P342Pc.1026T>ASubstitution - coding silent
QTRTD1ENSG00000151576ENST00000281273p.F288Fc.864C>TSubstitution - coding silent
CDH10ENSG00000040731ENST00000264463p.L9Lc.25C>TSubstitution - coding silent
ZFP57ENSG00000204644ENST00000376883p.Y420Cc.1259A>GSubstitution - Missense
PM20D2ENSG00000146281ENST00000275072p.L345Lc.1035G>ASubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.R302Kc.905G>ASubstitution - Missense
PRSS16ENSG00000112812ENST00000230582p.L45Mc.133C>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.E461Dc.1383A>TSubstitution - Missense
MTFP1ENSG00000242114ENST00000266263p.A128Tc.382G>ASubstitution - Missense
APBB2ENSG00000163697ENST00000295974p.S273Ic.818G>TSubstitution - Missense
WDR25ENSG00000176473ENST00000542471p.A58Ac.174G>ASubstitution - coding silent
ENST00000304751p.K60Kc.180G>ASubstitution - coding silent
RPS3ENSG00000149273ENST00000531188p.I210Ic.630T>CSubstitution - coding silent
SYT14ENSG00000143469ENST00000472886p.Q243Qc.729A>GSubstitution - coding silent
SNAPC5ENSG00000174446ENST00000316634p.A21Vc.62C>TSubstitution - Missense
RAD54LENSG00000085999ENST00000442598p.I731_T732insIc.2194_2195insTCAInsertion - In frame
ANGPTL7ENSG00000171819ENST00000376819p.H266Qc.798T>ASubstitution - Missense
TTC23ENSG00000103852ENST00000394132p.R376Cc.1126C>TSubstitution - Missense
NM_022740p.V308Vc.924A>TSubstitution - coding silent
YIPF7ENSG00000177752ENST00000332990p.A162Dc.485C>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.Q1289Hc.3867G>CSubstitution - Missense
VCXENSG00000182583ENST00000381059p.S29fs*1c.84_85delCADeletion - Frameshift
SIGLEC14ENSG00000254415ENST00000360844p.T86Ic.257C>TSubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.E424Ec.1272A>GSubstitution - coding silent
ENST00000576222_v68p.I438Mc.1314C>GSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.K466Rc.1397A>GSubstitution - Missense
FYNENSG00000010810ENST00000368682p.?c.547+6A>TUnknown
DMKNENSG00000161249ENST00000424570p.H317Qc.951C>GSubstitution - Missense
LILRB3ENSG00000204577ENST00000346401p.H409Yc.1225C>TSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000308942p.S449Rc.1347C>GSubstitution - Missense
RGS3ENSG00000138835ENST00000374140p.P770Pc.2310C>TSubstitution - coding silent


COSMIC

0 mutations reported
0 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