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A3-KAW - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1371 mutations reported
463 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
USH2AENSG00000042781ENST00000307340p.?c.848+7A>GUnknown
PTPN14ENSG00000152104ENST00000366956p.R890Gc.2668C>GSubstitution - Missense
FAIM3ENSG00000162894ENST00000367091p.R112Qc.335G>ASubstitution - Missense
ENST00000405167p.P1616Sc.4846C>TSubstitution - Missense
PARK2ENSG00000185345ENST00000366898p.N295Kc.885C>ASubstitution - Missense
BCKDHAENSG00000248098ENST00000269980p.A418Tc.1252G>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.R779Wc.2335C>TSubstitution - Missense
PLA2G16ENSG00000176485ENST00000323646p.R95Wc.283C>TSubstitution - Missense
NID2ENSG00000087303ENST00000216286p.R447Qc.1340G>ASubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.T700Tc.2100C>TSubstitution - coding silent
TMPRSS15ENSG00000154646ENST00000284885p.N875Nc.2625C>TSubstitution - coding silent
C12orf40ENSG00000180116ENST00000324616p.G5Rc.13G>ASubstitution - Missense
LTBENSG00000227507ENST00000429299p.G68Rc.202G>CSubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.R1658Qc.4973G>ASubstitution - Missense
NEU3ENSG00000162139ENST00000294064p.R278Wc.832C>TSubstitution - Missense
TMEM181ENSG00000146433ENST00000367090p.R448Qc.1343G>ASubstitution - Missense
SLC5A2ENSG00000140675ENST00000330498p.H221Hc.663C>TSubstitution - coding silent
ENST00000268613_v61p.G531Wc.1591G>TSubstitution - Missense
PGK2ENSG00000170950ENST00000304801p.L85Ic.253C>ASubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.T537Ac.1609A>GSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.C1021Cc.3063C>TSubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.R584Hc.1751G>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.H495Hc.1485C>TSubstitution - coding silent
FYBENSG00000082074ENST00000351578p.A169Vc.506C>TSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000531382p.A713Tc.2137G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.V508Mc.1522G>ASubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.R711*c.2131C>TSubstitution - Nonsense
LRRC27ENSG00000148814ENST00000368614p.A105Vc.314C>TSubstitution - Missense
LRRC27ENSG00000148814ENST00000368615p.A105Vc.314C>TSubstitution - Missense
PWWP2BENSG00000171813ENST00000305233p.*591Qc.1771T>CNonstop extension
DMBT1ENSG00000187908ENST00000368909p.?c.4898-1G>AUnknown
DMBT1ENSG00000187908ENST00000368909p.?c.4898-1G>AUnknown
ENST00000368915p.?c.5285-1G>AUnknown
RNF169ENSG00000166439ENST00000299563p.L601Lc.1801C>TSubstitution - coding silent
ENST00000268134p.T1551Tc.4653A>CSubstitution - coding silent
ACANENSG00000157766ENST00000439576p.T1551Tc.4653A>CSubstitution - coding silent
ZNF592ENSG00000166716ENST00000299927p.G239Rc.715G>ASubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.D1118Dc.3354C>TSubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.Q108Ec.322C>GSubstitution - Missense
WNT5BENSG00000111186ENST00000397196p.P46Pc.138C>TSubstitution - coding silent
PLCZ1ENSG00000139151ENST00000266505p.I66Nc.197T>ASubstitution - Missense
IRF2BP2ENSG00000168264ENST00000366609p.G161_S163delGFSc.481_489delGGCTTCTCCDeletion - In frame
SU_OBSCN.1p.R3908Ic.11723G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R3854Ic.11561G>TSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.R247Kc.740G>ASubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.R117*c.349C>TSubstitution - Nonsense
TBK1ENSG00000183735ENST00000331710p.E643delEc.1921_1923delGAADeletion - In frame
TBK1ENSG00000183735ENST00000331710p.E643delEc.1921_1923delGAADeletion - In frame
ARHGEF25ENSG00000240771ENST00000333972p.?c.100-3C>TUnknown
ENST00000327087_v68p.I121Ic.363C>TSubstitution - coding silent
ANO2ENSG00000047617ENST00000327087p.I121Ic.363C>TSubstitution - coding silent
FAM19A2ENSG00000198673ENST00000416284p.A87Sc.259G>TSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.R3913Hc.11738G>ASubstitution - Missense
ENST00000368148p.R2028Rc.6084A>GSubstitution - coding silent
CD5LENSG00000073754ENST00000368174p.V24Lc.70G>TSubstitution - Missense
TRIM68ENSG00000167333ENST00000300747p.V79Gc.236T>GSubstitution - Missense
ARHGAP1ENSG00000175220ENST00000311956p.?c.898+8G>AUnknown
TTC17ENSG00000052841ENST00000299240p.S771Sc.2313A>GSubstitution - coding silent
ENST00000349637p.T2041Ic.6122C>TSubstitution - Missense
ENST00000349637p.V3216Fc.9646G>TSubstitution - Missense
ENST00000349637p.G3294Rc.9880G>CSubstitution - Missense
OR4D5ENSG00000171014ENST00000307033p.S51Cc.152C>GSubstitution - Missense
LRIT2ENSG00000204033ENST00000372113p.F296Yc.887T>ASubstitution - Missense
LRIT2ENSG00000204033ENST00000372113p.S256*c.767C>ASubstitution - Nonsense
CCSER2ENSG00000107771ENST00000224756p.A190Vc.569C>TSubstitution - Missense
CCSER2ENSG00000107771ENST00000372088p.A190Vc.569C>TSubstitution - Missense
ENST00000224764p.L369Lc.1107C>ASubstitution - coding silent
SAMD8ENSG00000156671ENST00000372690p.M233Vc.697A>GSubstitution - Missense
ENST00000412131p.E953Dc.2859G>TSubstitution - Missense
SNAP47ENSG00000143740ENST00000366759p.D436Ec.1308C>GSubstitution - Missense
IBA57-AS1ENSG00000203684ENST00000366713p.Y100fs*4c.298_299insGTInsertion - Frameshift
HSPG2ENSG00000142798ENST00000374695p.T3838Mc.11513C>TSubstitution - Missense
GJD4ENSG00000177291ENST00000321660p.R76Qc.227G>ASubstitution - Missense
ENST00000357329p.V1196Mc.3586G>ASubstitution - Missense
DOCK9ENSG00000088387ENST00000339416p.V1196Mc.3586G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000357063p.L467Fc.1401G>CSubstitution - Missense
TAS2R31ENSG00000256436ENST00000390675p.G92Cc.274G>TSubstitution - Missense
TAS2R31ENSG00000256436ENST00000390675p.W88Cc.264G>CSubstitution - Missense
CORO1CENSG00000110880ENST00000261401p.S98Nc.293G>ASubstitution - Missense
TAS2R7ENSG00000121377ENST00000240687p.T7Pc.19A>CSubstitution - Missense
RCBTB1ENSG00000136144ENST00000378302p.S317Sc.951C>GSubstitution - coding silent
WDFY2ENSG00000139668ENST00000298125p.?c.137+1G>AUnknown
SU_NEK5p.E490Kc.1468G>ASubstitution - Missense
C15orf27ENSG00000169758ENST00000388942p.V90Lc.268G>TSubstitution - Missense
CSKENSG00000103653ENST00000220003p.A24Ac.72C>TSubstitution - coding silent
LMAN1LENSG00000140506ENST00000309664p.H57Dc.169C>GSubstitution - Missense
APOFENSG00000175336ENST00000398189p.Q110Hc.330G>TSubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.C1037Rc.3109T>CSubstitution - Missense
BAZ2AENSG00000076108ENST00000379441p.C1073Rc.3217T>CSubstitution - Missense
HEXAENSG00000213614ENST00000268097p.?c.571-1G>TUnknown
USH2AENSG00000042781ENST00000307340p.S952Pc.2854T>CSubstitution - Missense
ZBTB44ENSG00000196323ENST00000397753p.Q220Qc.660A>GSubstitution - coding silent
ENST00000338191p.Q220Qc.660A>GSubstitution - coding silent
FCGR2AENSG00000143226ENST00000367972p.V204Vc.612C>TSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.P651Lc.1952C>TSubstitution - Missense
C1orf110ENSG00000185860ENST00000367910p.I273Tc.818T>CSubstitution - Missense
CD84ENSG00000066294ENST00000311224p.E292Dc.876G>TSubstitution - Missense
CD84ENSG00000066294ENST00000368054p.E275Dc.825G>TSubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
TP73ENSG00000078900ENST00000378295p.M266Lc.796A>TSubstitution - Missense
TP73ENSG00000078900ENST00000378288p.M217Lc.649A>TSubstitution - Missense
NCDNENSG00000020129ENST00000373253p.T526Ac.1576A>GSubstitution - Missense
ENST00000326544p.P245Sc.733C>TSubstitution - Missense
SDC3ENSG00000162512ENST00000336798p.R197Rc.589C>ASubstitution - coding silent
CROCCENSG00000058453ENST00000375541p.L1078Sc.3233T>CSubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.?c.1216-3T>CUnknown
CENPLENSG00000120334ENST00000367710p.R46Qc.137G>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.G521Gc.1563A>GSubstitution - coding silent
SCYL3ENSG00000000457ENST00000367772p.V306Ac.917T>CSubstitution - Missense
SCYL3ENSG00000000457ENST00000367771p.V306Ac.917T>CSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.Y2520Nc.7558T>ASubstitution - Missense
NBEAENSG00000172915ENST00000379922p.Y77Nc.229T>ASubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.T1438Ic.4313C>TSubstitution - Missense
SPICENSG00000166211ENST00000551346p.?c.320-6T>CUnknown
SYCP3ENSG00000139351ENST00000392924p.?c.454-10A>CUnknown
NUP37ENSG00000075188ENST00000552283p.D125Nc.373G>ASubstitution - Missense
PARPBPENSG00000185480ENST00000327680p.S56Sc.168T>CSubstitution - coding silent
IPO7ENSG00000205339ENST00000379719p.L984Fc.2950C>TSubstitution - Missense
SBF2ENSG00000133812ENST00000256190p.L1497Lc.4491A>GSubstitution - coding silent
AP2A2ENSG00000183020ENST00000448903p.N639Nc.1917C>TSubstitution - coding silent
UTP20ENSG00000120800ENST00000261637p.?c.4746+3A>GUnknown
WDR96ENSG00000197748ENST00000357060p.V213Ic.637G>ASubstitution - Missense
PANX1ENSG00000110218ENST00000227638p.G380Dc.1139G>ASubstitution - Missense
FAM178AENSG00000119906ENST00000238961p.T2Pc.4A>CSubstitution - Missense
FAM178AENSG00000119906ENST00000370271p.T2Pc.4A>CSubstitution - Missense
DPCDENSG00000166171ENST00000370151p.P71Sc.211C>TSubstitution - Missense
BTBD16ENSG00000138152ENST00000260723p.C309*c.927T>ASubstitution - Nonsense
AHCTF1ENSG00000153207ENST00000391829p.I863Sc.2588T>GSubstitution - Missense
SMC3ENSG00000108055ENST00000361804p.L402Lc.1206A>GSubstitution - coding silent
SMC3ENSG00000108055ENST00000361804p.E891fs*4c.2670_2671delAGDeletion - Frameshift
PDCD4ENSG00000150593ENST00000280154p.G307Rc.919G>CSubstitution - Missense
GRHL3ENSG00000158055ENST00000350501p.N343Nc.1029C>TSubstitution - coding silent
GRHL3ENSG00000158055ENST00000236255p.N348Nc.1044C>TSubstitution - coding silent
PNRC2ENSG00000189266ENST00000334351p.G46Rc.136G>ASubstitution - Missense
NALCNENSG00000102452ENST00000376196p.S664Cc.1991C>GSubstitution - Missense
ID3ENSG00000117318ENST00000374561p.A102Vc.305C>TSubstitution - Missense
ID3ENSG00000117318ENST00000374561p.?c.300+6C>AUnknown
ID3ENSG00000117318ENST00000374561p.P92Lc.275C>TSubstitution - Missense
ID3ENSG00000117318ENST00000374561p.C47Yc.140G>ASubstitution - Missense
AMDHD1ENSG00000139344ENST00000266736p.S382Sc.1146G>ASubstitution - coding silent
ELK3ENSG00000111145ENST00000228741p.P197Pc.591G>ASubstitution - coding silent
WNK1ENSG00000060237ENST00000537687p.L1483Fc.4449G>CSubstitution - Missense
NM_018979p.L1223Fc.3669G>CSubstitution - Missense
TM9SF2ENSG00000125304ENST00000376387p.G263Ac.788G>CSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.R174Rc.522C>TSubstitution - coding silent
PLXNC1ENSG00000136040ENST00000258526p.G284fs*12c.851_863del13Deletion - Frameshift
MRGPRFENSG00000172935ENST00000309099p.A139Ac.417C>TSubstitution - coding silent
MRPL17ENSG00000158042ENST00000288937p.E57Ec.171G>ASubstitution - coding silent
SSH3ENSG00000172830ENST00000308127p.A274Ac.822G>ASubstitution - coding silent
CARNS1ENSG00000172508ENST00000445895p.R852Hc.2555G>ASubstitution - Missense
C11orf24ENSG00000171067ENST00000304271p.S131Tc.392G>CSubstitution - Missense
SLC15A3ENSG00000110446ENST00000227880p.S567Pc.1699T>CSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P2180Pc.6540A>GSubstitution - coding silent
NUDT14ENSG00000183828ENST00000392568p.A189Tc.565G>ASubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.G911Vc.2732G>TSubstitution - Missense
RUSC1ENSG00000160753ENST00000368354p.P354Sc.1060C>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.S1020Ac.3058T>GSubstitution - Missense
S100A16ENSG00000188643ENST00000368703p.G84Sc.250G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.T1669Tc.5007G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.T1662Tc.4986G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000402845p.T1699Tc.5097G>ASubstitution - coding silent
SNRPA1ENSG00000131876ENST00000254193p.?c.615+4A>GUnknown
FAM151AENSG00000162391ENST00000302250p.G372Sc.1114G>ASubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.P1002Pc.3006T>GSubstitution - coding silent
CYP4X1ENSG00000186377ENST00000371901p.K390Nc.1170G>CSubstitution - Missense
B2MENSG00000166710ENST00000558401p.A11fs*32c.32_35delCGCTDeletion - Frameshift
RPTNENSG00000215853ENST00000316073p.S436Tc.1307G>CSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.M1151Vc.3451A>GSubstitution - Missense
TNFAIP8L2ENSG00000163154ENST00000368910p.T157fs*7c.467_468insCInsertion - Frameshift
ATP1A1ENSG00000163399ENST00000295598p.R255Hc.764G>ASubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.A595Ac.1785A>CSubstitution - coding silent
ANAPC5ENSG00000089053ENST00000261819p.H5Hc.15C>TSubstitution - coding silent
BCL7AENSG00000110987ENST00000538010p.P189Pc.567T>ASubstitution - coding silent
TRIM33ENSG00000197323ENST00000358465p.F275Fc.825C>TSubstitution - coding silent
NM_015906p.F275Fc.825C>TSubstitution - coding silent
ZSWIM5ENSG00000162415ENST00000359600p.E270Kc.808G>ASubstitution - Missense
B4GALT2ENSG00000117411ENST00000356836p.R173Gc.517C>GSubstitution - Missense
B4GALT2ENSG00000117411ENST00000309519p.R202Pc.605G>CSubstitution - Missense
KLF17ENSG00000171872ENST00000372299p.M9Kc.26T>ASubstitution - Missense
KLF17ENSG00000171872ENST00000372299p.M9Kc.26T>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.L1435Vc.4303T>GSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.T3312Sc.9934A>TSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.T2810Sc.8428A>TSubstitution - Missense
EHD1ENSG00000110047ENST00000359393p.A9Gc.26C>GSubstitution - Missense
HK1ENSG00000156515ENST00000359426p.I118Vc.352A>GSubstitution - Missense
ENST00000426033p.F2611Cc.7832T>GSubstitution - Missense
SLC18A3ENSG00000187714ENST00000374115p.H338Dc.1012C>GSubstitution - Missense
CHATENSG00000070748ENST00000337653p.?c.1112-6C>AUnknown
CHATENSG00000070748ENST00000395562p.?c.866-6C>AUnknown
SGMS1ENSG00000198964ENST00000361781p.S154Lc.461C>TSubstitution - Missense
GSPT1ENSG00000103342ENST00000434724p.K199*c.595A>TSubstitution - Nonsense
NM_002094.1p.K61*c.181A>TSubstitution - Nonsense
SVILENSG00000197321ENST00000355867p.S2010Yc.6029C>ASubstitution - Missense
CUBNENSG00000107611ENST00000377833p.W2833*c.8498G>ASubstitution - Nonsense
UMODENSG00000169344ENST00000302509p.?c.1578-9C>TUnknown
UMODENSG00000169344ENST00000424589p.?c.1677-9C>TUnknown
DDX59ENSG00000118197ENST00000331314p.I467Sc.1400T>GSubstitution - Missense
LRIG2ENSG00000198799ENST00000361127p.N279Kc.837C>GSubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.G880Rc.2638G>CSubstitution - Missense
NBPF12ENSG00000186275ENST00000442909p.K68Qc.202A>CSubstitution - Missense
NBPF12ENSG00000186275ENST00000446760p.K68Qc.202A>CSubstitution - Missense
MTORENSG00000198793ENST00000361445p.?c.5811+8T>AUnknown
WDR47ENSG00000085433ENST00000369965p.T2Mc.5C>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.?c.1261-1_1274delgGTGGTGTACTTCACUnknown
SLC5A12ENSG00000148942ENST00000396005p.A7Sc.19G>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.C784Yc.2351G>ASubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.A591Sc.1771G>TSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.K216Ec.646A>GSubstitution - Missense
IFT46ENSG00000118096ENST00000264020p.T260Mc.779C>TSubstitution - Missense
ZW10ENSG00000086827ENST00000200135p.?c.581-10T>GUnknown
ENST00000355015p.V106Mc.316G>ASubstitution - Missense
PTPN6ENSG00000111679ENST00000399448p.P107Lc.320C>TSubstitution - Missense
PTPN6ENSG00000111679ENST00000456013p.P105Lc.314C>TSubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.F467Sc.1400T>CSubstitution - Missense
MDM2ENSG00000135679ENST00000462284p.?c.524-3C>TUnknown
GLULENSG00000135821ENST00000339526p.R119Qc.356G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.N907Nc.2721C>TSubstitution - coding silent
CHD4ENSG00000111642ENST00000309577p.N907Nc.2721C>TSubstitution - coding silent
SAAL1ENSG00000166788ENST00000524803p.E19_V20insEc.58_59insAGGInsertion - In frame
PSMD10ENSG00000101843ENST00000217958p.R85Rc.253C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.V9159Ac.27476T>CSubstitution - Missense
ENST00000331986p.V4792Ac.14375T>CSubstitution - Missense
PTBP1ENSG00000011304ENST00000356948p.F397Fc.1191C>TSubstitution - coding silent
PRTN3ENSG00000196415ENST00000234347p.Y110Nc.328T>ASubstitution - Missense
HNRNPMENSG00000099783ENST00000325495p.?c.630+107_673>TUnknown
FGF22ENSG00000070388ENST00000215530p.P166Pc.498C>TSubstitution - coding silent
CSPP1ENSG00000104218ENST00000262210p.P465Tc.1393C>ASubstitution - Missense
CSPP1ENSG00000104218ENST00000262210p.P514Lc.1541C>TSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000380732p.E643Kc.1927G>ASubstitution - Missense
AMOTENSG00000126016ENST00000304758p.?c.403+4A>CUnknown
NM_013257p.T250Nc.749C>ASubstitution - Missense
TMEFF2ENSG00000144339ENST00000409056p.S173Sc.519A>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R2540Hc.7619G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R2494Hc.7481G>ASubstitution - Missense
ENST00000356127p.R2540Hc.7619G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R2494Hc.7481G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.R2540Hc.7619G>ASubstitution - Missense
NKX2-4ENSG00000125816ENST00000351817p.S340Cc.1018A>TSubstitution - Missense
MACROD2ENSG00000172264ENST00000217246p.R118Cc.352C>TSubstitution - Missense
ZNF317ENSG00000130803ENST00000247956p.R270Gc.808A>GSubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.H257Qc.771C>GSubstitution - Missense
GNG13ENSG00000127588ENST00000248150p.R24Rc.70C>ASubstitution - coding silent
KARSENSG00000065427ENST00000302445p.P575Pc.1725C>TSubstitution - coding silent
LDHDENSG00000166816ENST00000300051p.D67Nc.199G>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.G152Gc.456T>GSubstitution - coding silent
ARHGAP11AENSG00000198826ENST00000361627p.A612Tc.1834G>ASubstitution - Missense
NM_014363.3p.A1576Ac.4728A>GSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.T3Tc.9C>GSubstitution - coding silent
MCF2LENSG00000126217ENST00000375601p.?c.2074-10C>TUnknown
MCF2LENSG00000126217ENST00000375604p.?c.2233-10C>TUnknown
F10ENSG00000126218ENST00000375559p.C110Cc.330C>TSubstitution - coding silent
RASA3ENSG00000185989ENST00000334062p.V685Ac.2054T>CSubstitution - Missense
COL4A1ENSG00000187498ENST00000375820p.G1145Gc.3435C>ASubstitution - coding silent
CARKDENSG00000213995ENST00000309957p.R233Rc.697A>CSubstitution - coding silent
DLK1ENSG00000185559ENST00000341267p.H140Qc.420C>ASubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.S270Lc.809C>TSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.S270Lc.809C>TSubstitution - Missense
CSNK1G1ENSG00000169118ENST00000303052p.R134Qc.401G>ASubstitution - Missense
NM_022048p.R134Qc.401G>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.L13Lc.39G>ASubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.Y875*c.2625C>ASubstitution - Nonsense
PLEKHH1ENSG00000054690ENST00000329153p.Y914*c.2742C>ASubstitution - Nonsense
ZC3H14ENSG00000100722ENST00000251038p.R104Qc.311G>ASubstitution - Missense
SIX4ENSG00000100625ENST00000216513p.V41Gc.122T>GSubstitution - Missense
CLCA4ENSG00000016602ENST00000370563p.D516Gc.1547A>GSubstitution - Missense
SSX2IPENSG00000117155ENST00000342203p.G525Rc.1573G>CSubstitution - Missense
LRRC7ENSG00000033122ENST00000370958p.D170Dc.510T>CSubstitution - coding silent
SRSF11ENSG00000116754ENST00000370949p.K338Rc.1013A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.P161Pc.483C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.P227Pc.681C>TSubstitution - coding silent
NBPF10ENSG00000163386ENST00000342960p.F43Vc.127T>GSubstitution - Missense
NIPAL3ENSG00000001461ENST00000374399p.E298Kc.892G>ASubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.E1140Kc.3418G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.K1233Tc.3698A>CSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.E1077Dc.3231G>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.L2618Mc.7852T>ASubstitution - Missense
ENST00000298047_v61p.L2618Mc.7852T>ASubstitution - Missense
RORAENSG00000069667ENST00000335670p.?c.167-8T>CUnknown
TCF12ENSG00000140262ENST00000438423p.S568fs*11c.1699_1700insAInsertion - Frameshift
UNC13CENSG00000137766ENST00000260323p.E129Qc.385G>CSubstitution - Missense
BTG2ENSG00000159388ENST00000475157p.M9Ic.27G>ASubstitution - Missense
IPO9ENSG00000198700ENST00000361565p.S262Gc.784A>GSubstitution - Missense
SYT2ENSG00000143858ENST00000367267p.N418Nc.1254C>TSubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.R426Pc.1277G>CSubstitution - Missense
ENST00000292520p.R267Pc.800G>CSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.L2419fs*>2c.7255_7256delCTDeletion - Frameshift
COL1A2ENSG00000164692ENST00000297268p.I473Tc.1418T>CSubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.R135Qc.404G>ASubstitution - Missense
RAB19ENSG00000146955ENST00000275874p.A203Ac.609C>ASubstitution - coding silent
ZC3HAV1LENSG00000146858ENST00000275766p.H243Qc.729T>ASubstitution - Missense
BTN1A1ENSG00000124557ENST00000244513p.P469Rc.1406C>GSubstitution - Missense
CHRM2ENSG00000181072ENST00000320658p.L62Lc.186A>GSubstitution - coding silent
HIST1H1EENSG00000168298ENST00000304218p.G56Gc.168C>ASubstitution - coding silent
SLAIN2ENSG00000109171ENST00000264313p.R369Qc.1106G>ASubstitution - Missense
BSNENSG00000164061ENST00000296452p.L80Pc.239T>CSubstitution - Missense
BSNENSG00000164061ENST00000296452p.R2221Hc.6662G>ASubstitution - Missense
ZNF141ENSG00000131127ENST00000240499p.?c.226+9G>AUnknown
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
NM_016507p.R112Sc.334C>ASubstitution - Missense
HERPUD1ENSG00000051108ENST00000300302p.A98Dc.293C>ASubstitution - Missense
CIAPIN1ENSG00000005194ENST00000394391p.R88Qc.263G>ASubstitution - Missense
ABCC11ENSG00000121270ENST00000356608p.L930Lc.2790G>ASubstitution - coding silent
SHROOM3ENSG00000138771ENST00000296043p.T1974Tc.5922G>ASubstitution - coding silent
THUMPD3ENSG00000134077ENST00000452837p.M1Vc.1A>GSubstitution - Missense
CSN1S1ENSG00000126545ENST00000246891p.S90Lc.269C>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.P39Pc.117A>GSubstitution - coding silent
SMYD1ENSG00000115593ENST00000419482p.G181Gc.543T>CSubstitution - coding silent
LRRC3ENSG00000160233ENST00000291592p.T66Tc.198C>TSubstitution - coding silent
ENST00000325084p.A56Ac.168G>ASubstitution - coding silent
CACNA1AENSG00000141837ENST00000360228p.A56Ac.168G>ASubstitution - coding silent
ATP5DENSG00000099624ENST00000395633p.M124Vc.370A>GSubstitution - Missense
ZNF799ENSG00000196466ENST00000430385p.R270Ic.809G>TSubstitution - Missense
JUNBENSG00000171223ENST00000302754p.G19Ec.56G>ASubstitution - Missense
CELF4ENSG00000101489ENST00000361795p.F465Fc.1395C>TSubstitution - coding silent
DSG3ENSG00000134757ENST00000257189p.H928Qc.2784T>GSubstitution - Missense
HES7ENSG00000179111ENST00000317814p.E73Qc.217G>CSubstitution - Missense
RNF213ENSG00000173821ENST00000319921p.R880Gc.2638A>GSubstitution - Missense
ENST00000411702p.R929Gc.2785A>GSubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.R880Gc.2638A>GSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.S178Pc.532T>CSubstitution - Missense
ENST00000411702p.S2154Pc.6460T>CSubstitution - Missense
ANKRD13BENSG00000198720ENST00000394859p.S191Tc.572G>CSubstitution - Missense
TMIGD1ENSG00000182271ENST00000328886p.H257Qc.771C>GSubstitution - Missense
XM_043272.9p.T760_T762delTTTc.2253_2261delCACCACCACDeletion - In frame
FLOT2ENSG00000132589ENST00000394908p.R277Pc.830G>CSubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.T534Ic.1601C>TSubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.T534Ic.1601C>TSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.T1803Tc.5409T>GSubstitution - coding silent
ENST00000389520_v65p.M705Ic.2115G>ASubstitution - Missense
OSR2ENSG00000164920ENST00000457907p.H399Dc.1195C>GSubstitution - Missense
NM_032682.3p.G30Ac.89G>CSubstitution - Missense
NM_032682.3p.E8Qc.22G>CSubstitution - Missense
NM_015024.2p.Q1060Rc.3179A>GSubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.K442Rc.1325A>GSubstitution - Missense
ANKRD20A4ENSG00000172014ENST00000357336p.L690fs*30c.2066_2067insAInsertion - Frameshift
DOCK8ENSG00000107099ENST00000453981p.R393Hc.1178G>ASubstitution - Missense
UBAP2ENSG00000137073ENST00000379238p.S702Sc.2106C>TSubstitution - coding silent
ARID3CENSG00000205143ENST00000378909p.P285Pc.855T>CSubstitution - coding silent
AKR1B1ENSG00000085662ENST00000285930p.A31Ac.93C>GSubstitution - coding silent
MROH8ENSG00000101353ENST00000400441p.I817Tc.2450T>CSubstitution - Missense
RALGAPBENSG00000170471ENST00000397040p.S873Cc.2618C>GSubstitution - Missense
BPIFB4ENSG00000186191ENST00000375483p.G155Gc.465T>GSubstitution - coding silent
RPS11ENSG00000142534ENST00000270625p.?c.147+6G>AUnknown
ANKRD27ENSG00000105186ENST00000306065p.G744Cc.2230G>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.?c.1800+7G>AUnknown
ENSG00000178404ENST00000322630p.A209Vc.626C>TSubstitution - Missense
MPRIPENSG00000133030ENST00000341712p.L76Vc.226C>GSubstitution - Missense
DUS3LENSG00000141994ENST00000309061p.T99Sc.295A>TSubstitution - Missense
ZNF749ENSG00000186230ENST00000334181p.H602Lc.1805A>TSubstitution - Missense
KDM5CENSG00000126012ENST00000375401p.R378Pc.1133G>CSubstitution - Missense
SMC1AENSG00000072501ENST00000322213p.K453_L459delKKLEGELc.1358_1378del21Deletion - In frame
XM_498354.1p.G366Gc.1098T>CSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.S616Sc.1848T>CSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
ANK1ENSG00000029534ENST00000265709p.?c.2560+6G>CUnknown
ANK1ENSG00000029534ENST00000347528p.?c.2461+6G>CUnknown
ADAM18ENSG00000168619ENST00000265707p.?c.268-10T>CUnknown
ANK1ENSG00000029534ENST00000347528p.G1487Sc.4459G>ASubstitution - Missense
DUSP26ENSG00000133878ENST00000256261p.G155Gc.465C>TSubstitution - coding silent
FAM175AENSG00000163322ENST00000321945p.S11Sc.33G>CSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.F2863Vc.8587T>GSubstitution - Missense
OR5K2ENSG00000231861ENST00000427338p.G16Rc.46G>ASubstitution - Missense
MFI2ENSG00000163975ENST00000296350p.H279Hc.837C>TSubstitution - coding silent
KIAA0226ENSG00000145016ENST00000389665p.K608Rc.1823A>GSubstitution - Missense
PAK2ENSG00000180370ENST00000327134p.Q116Pc.347A>CSubstitution - Missense
ENST00000405167p.T2971Rc.8912C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.Q3805Kc.11413C>ASubstitution - Missense
ENST00000405167p.H3805Nc.11413C>ASubstitution - Missense
ENST00000405167p.P3456Sc.10366C>TSubstitution - Missense
DUSP18ENSG00000167065ENST00000404885p.V182Dc.545T>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.H945Yc.2833C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.H945Yc.2833C>TSubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.P592Sc.1774C>TSubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.P592Sc.1774C>TSubstitution - Missense
RTEL1ENSG00000258366ENST00000508582p.P616Sc.1846C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.S1242Sc.3726C>TSubstitution - coding silent
PRPF31ENSG00000105618ENST00000321030p.?c.421-9C>TUnknown
MYH2ENSG00000125414ENST00000245503p.L886Lc.2656C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.L317Lc.951G>CSubstitution - coding silent
METTL22ENSG00000067365ENST00000381920p.L149Lc.447A>TSubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.?c.3836+10T>CUnknown
TRIM72ENSG00000177238ENST00000322122p.P295Lc.884C>TSubstitution - Missense
TRIM72ENSG00000177238ENST00000322122p.P295Lc.884C>TSubstitution - Missense
ENSG00000223931ENST00000426099p.F29Vc.85T>GSubstitution - Missense
MEFVENSG00000103313ENST00000219596p.G779Gc.2337G>CSubstitution - coding silent
CD47ENSG00000196776ENST00000361309p.V198Ic.592G>ASubstitution - Missense
CASP8ENSG00000064012ENST00000264275p.V222Vc.666A>GSubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.V222Vc.666A>GSubstitution - coding silent
PDE11AENSG00000128655ENST00000286063p.Y796*c.2388C>GSubstitution - Nonsense
PDE11AENSG00000128655ENST00000358450p.Y546*c.1638C>GSubstitution - Nonsense
ZDHHC8ENSG00000099904ENST00000334554p.S537Sc.1611G>ASubstitution - coding silent
RTN4RENSG00000040608ENST00000043402p.H89fs*9c.266_267insAInsertion - Frameshift
NM_012290p.N543Nc.1629C>TSubstitution - coding silent
MICAL3ENSG00000243156ENST00000441493p.S1693Sc.5079T>CSubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.A385Ac.1155A>GSubstitution - coding silent
AFG3L2ENSG00000141385ENST00000269143p.T270Tc.810C>TSubstitution - coding silent
ROCK1ENSG00000067900ENST00000399799p.M743Ic.2229G>ASubstitution - Missense
USP14ENSG00000101557ENST00000261601p.?c.761+3A>TUnknown
GLP2RENSG00000065325ENST00000262441p.?c.765+10T>AUnknown
EPB41L3ENSG00000082397ENST00000341928p.T747Kc.2240C>ASubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.R168Qc.503G>ASubstitution - Missense
TCEB3BENSG00000206181ENST00000332567p.A36Vc.107C>TSubstitution - Missense
ENSG00000173213ENST00000308911p.T107Tc.321A>CSubstitution - coding silent
ENSG00000182319ENST00000330777p.E1331Kc.3991G>ASubstitution - Missense
SU_SgK223p.E1333Kc.3997G>ASubstitution - Missense
PAG1ENSG00000076641ENST00000220597p.S67Nc.200G>ASubstitution - Missense
SBSPONENSG00000164764ENST00000297354p.T142Sc.424A>TSubstitution - Missense
NM_004133.3p.Y66Nc.196T>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.F1406Lc.4218C>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000325233p.N3fs*30c.5delADeletion - Frameshift
ENST00000292520p.E843Kc.2527G>ASubstitution - Missense
IFNA14ENSG00000228083ENST00000380222p.Q182Qc.546A>GSubstitution - coding silent
EHMT1ENSG00000181090ENST00000460843p.P570Pc.1710G>ASubstitution - coding silent
CLIC3ENSG00000169583ENST00000494426p.R99Sc.297G>TSubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.I594Ic.1782C>TSubstitution - coding silent
RAC1ENSG00000136238ENST00000356142p.?c.108-4A>GUnknown
RAC1ENSG00000136238ENST00000348035p.?c.108-4A>GUnknown
TRIM56ENSG00000169871ENST00000306085p.A557Tc.1669G>ASubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.Q37Hc.111G>CSubstitution - Missense
CUX1ENSG00000257923ENST00000292538p.Q48Hc.144G>CSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.A2751Tc.8251G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T5192Mc.15575C>TSubstitution - Missense
C7orf61ENSG00000185955ENST00000332375p.L51Lc.153C>TSubstitution - coding silent
PCOLCEENSG00000106333ENST00000223061p.S260fs*4c.777_778delCADeletion - Frameshift
DNAH8ENSG00000124721ENST00000359357p.S2828Rc.8482A>CSubstitution - Missense
NM_001371.1p.S2828Rc.8482A>CSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.R42Cc.124C>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.R1262Hc.3785G>ASubstitution - Missense
ENST00000436261_v68p.?c.142+10C>TUnknown
SLC6A20ENSG00000163817ENST00000358525p.A573Ac.1719G>ASubstitution - coding silent
POMGNT2ENSG00000144647ENST00000344697p.F93Cc.278T>GSubstitution - Missense
ENST00000438835p.S219Sc.657C>TSubstitution - coding silent
CCDC134ENSG00000100147ENST00000255784p.?c.311-6C>TUnknown
FAM109BENSG00000177096ENST00000321753p.R42Kc.125G>ASubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.D823Hc.2467G>CSubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.R1276Cc.3826C>TSubstitution - Missense
ALDH1L1ENSG00000144908ENST00000393434p.R181Tc.542G>CSubstitution - Missense
ACKR3ENSG00000144476ENST00000272928p.A229Tc.685G>ASubstitution - Missense
GPR75ENSG00000119737ENST00000394705p.T155Tc.465G>CSubstitution - coding silent
TRPM8ENSG00000144481ENST00000324695p.R536Qc.1607G>ASubstitution - Missense
NMUR1ENSG00000171596ENST00000305141p.R379Rc.1137C>TSubstitution - coding silent
SNTG2ENSG00000172554ENST00000308624p.F328Fc.984C>TSubstitution - coding silent
ZNF142ENSG00000115568ENST00000411696p.R1390Rc.4170G>ASubstitution - coding silent
SCML2ENSG00000102098ENST00000251900p.S464Cc.1390A>TSubstitution - Missense
PPEF1ENSG00000086717ENST00000361511p.I626Vc.1876A>GSubstitution - Missense
GGCTENSG00000006625ENST00000275428p.D8Ac.23A>CSubstitution - Missense
PORENSG00000127948ENST00000461988p.G413Sc.1237G>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.R110Qc.329G>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.R110Qc.329G>ASubstitution - Missense
PARK2ENSG00000185345ENST00000366892p.N295Kc.885C>ASubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.R1784Qc.5351G>ASubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.?c.2796+2T>GUnknown
AKAP12ENSG00000131016ENST00000402676p.D1189Dc.3567C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.C4504Fc.13511G>TSubstitution - Missense
SASH1ENSG00000111961ENST00000367467p.P25Lc.74C>TSubstitution - Missense
PEX3ENSG00000034693ENST00000367591p.?c.332-9T>AUnknown
PLAGL1ENSG00000118495ENST00000367571p.S288Sc.864G>TSubstitution - coding silent
MAP3K5ENSG00000197442ENST00000359015p.I599Mc.1797A>GSubstitution - Missense
SPRY1ENSG00000164056ENST00000339241p.S95Sc.285C>TSubstitution - coding silent
UVSSAENSG00000163945ENST00000389851p.R468Rc.1404G>CSubstitution - coding silent
GFM1ENSG00000168827ENST00000486715p.R526Qc.1577G>ASubstitution - Missense
HLTFENSG00000071794ENST00000310053p.R254Wc.760C>TSubstitution - Missense
ENSG00000198843ENST00000471696p.S28Nc.83G>ASubstitution - Missense
INO80BENSG00000115274ENST00000233331p.L354Wc.1061T>GSubstitution - Missense
NM_031288.1p.L341Wc.1022T>GSubstitution - Missense
ZFP90ENSG00000184939ENST00000398253p.A219Ac.657C>ASubstitution - coding silent
ADD2ENSG00000075340ENST00000264436p.Q421Pc.1262A>CSubstitution - Missense
ADD2ENSG00000075340ENST00000430656p.Q437Pc.1310A>CSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.S953Yc.2858C>ASubstitution - Missense
ENST00000391338_v68p.Q438Hc.1314G>CSubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
LRRN1ENSG00000175928ENST00000319331p.Y327Nc.979T>ASubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.W804*c.2412G>ASubstitution - Nonsense
LIMS1ENSG00000169756ENST00000393314p.R116*c.346C>TSubstitution - Nonsense
LONRF2ENSG00000170500ENST00000393437p.R616Rc.1848G>CSubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.L740Lc.2220G>TSubstitution - coding silent
NM_014866.1p.L740Lc.2220G>TSubstitution - coding silent
TBL1XR1ENSG00000177565ENST00000430069p.S324delSc.971_973delCTTDeletion - In frame
MCCC1ENSG00000078070ENST00000265594p.I613Ic.1839C>ASubstitution - coding silent
MCCC1ENSG00000078070ENST00000265594p.D326Ec.978C>GSubstitution - Missense
LRRC34ENSG00000171757ENST00000316515p.R166Qc.497G>ASubstitution - Missense
RASGRP4ENSG00000171777ENST00000454404p.A344Ac.1032G>ASubstitution - coding silent
CAPNS1ENSG00000126247ENST00000246533p.F181Fc.543C>TSubstitution - coding silent
ARHGAP33ENSG00000004777ENST00000314737p.Q753Kc.2257C>ASubstitution - Missense
PIP5K1CENSG00000186111ENST00000335312p.T543Mc.1628C>TSubstitution - Missense
MPOENSG00000005381ENST00000225275p.T470Tc.1410G>CSubstitution - coding silent
NME2ENSG00000011052ENST00000393193p.V255Ac.764T>CSubstitution - Missense
ZNF594ENSG00000180626ENST00000399604p.P154Sc.460C>TSubstitution - Missense
ENST00000335500p.R1155Rc.3465A>GSubstitution - coding silent
CNTNAP1ENSG00000108797ENST00000264638p.R156Hc.467G>ASubstitution - Missense
FAM110CENSG00000184731ENST00000327669p.A86Vc.257C>TSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.?c.2210+3A>GUnknown
PRKD3ENSG00000115825ENST00000379066p.N350Hc.1048A>CSubstitution - Missense
SOS1ENSG00000115904ENST00000426016p.F1248Cc.3743T>GSubstitution - Missense
FILIP1ENSG00000118407ENST00000237172p.S994Gc.2980A>GSubstitution - Missense
VNN2ENSG00000112303ENST00000326499p.Y217Fc.650A>TSubstitution - Missense
MYBENSG00000118513ENST00000341911p.V451Vc.1353G>ASubstitution - coding silent
KIAA1958ENSG00000165185ENST00000337530p.R483*c.1447C>TSubstitution - Nonsense
ZFP37ENSG00000136866ENST00000374227p.L368Ic.1102C>ASubstitution - Missense
MAN1A1ENSG00000111885ENST00000368466p.L142Lc.424C>TSubstitution - coding silent
ENST00000409686p.G64Cc.190G>TSubstitution - Missense
ZNF189ENSG00000136870ENST00000339664p.Y512Hc.1534T>CSubstitution - Missense
ALDOBENSG00000136872ENST00000374855p.T359Ac.1075A>GSubstitution - Missense
CTSBENSG00000164733ENST00000353047p.D238Hc.712G>CSubstitution - Missense
CD109ENSG00000156535ENST00000287097p.D1183Yc.3547G>TSubstitution - Missense
EYSENSG00000188107ENST00000370621p.Q2199Kc.6595C>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.A637Sc.1909G>TSubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.A821Vc.2462C>TSubstitution - Missense
NEDD9ENSG00000111859ENST00000504387p.A821Vc.2462C>TSubstitution - Missense
DSEENSG00000111817ENST00000331677p.R248Kc.743G>ASubstitution - Missense
SNX3ENSG00000112335ENST00000230085p.P156Lc.467C>TSubstitution - Missense
CTDP1ENSG00000060069ENST00000299543p.T147Tc.441G>ASubstitution - coding silent
ZNF732ENSG00000186777ENST00000419098p.E17Kc.49G>ASubstitution - Missense
ENST00000414523p.E17Kc.49G>ASubstitution - Missense
NM_032457.1p.L605Vc.1813T>GSubstitution - Missense
PI4K2BENSG00000038210ENST00000264864p.F391Fc.1173T>CSubstitution - coding silent
RBPJENSG00000168214ENST00000348160p.S145Sc.435C>TSubstitution - coding silent
RBPJENSG00000168214ENST00000355476p.S144Sc.432C>TSubstitution - coding silent
KIAA1430ENSG00000164323ENST00000458385p.H221Qc.663C>GSubstitution - Missense
MTNR1AENSG00000168412ENST00000307161p.V191Lc.571G>CSubstitution - Missense
OTUD4ENSG00000164164ENST00000447906p.R420*c.1258A>TSubstitution - Nonsense
CHST2ENSG00000175040ENST00000309575p.P412Lc.1235C>TSubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.I462Ic.1386C>TSubstitution - coding silent
ENST00000341648p.E173Kc.517G>ASubstitution - Missense
ENST00000341648p.K242Rc.725A>GSubstitution - Missense
POTEIENSG00000196834ENST00000451531p.W786Sc.2357G>CSubstitution - Missense
GPR148ENSG00000173302ENST00000309926p.I123Ic.369T>ASubstitution - coding silent
SH2B1ENSG00000178188ENST00000322610p.R82Qc.245G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000359285p.R82Qc.245G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000337120p.R82Qc.245G>ASubstitution - Missense
GIPRENSG00000010310ENST00000263281p.V356Mc.1066G>ASubstitution - Missense
CCDC61ENSG00000104983ENST00000263284p.R2Gc.4C>GSubstitution - Missense
ZNF93ENSG00000184635ENST00000343769p.V125Mc.373G>ASubstitution - Missense
ISYNA1ENSG00000105655ENST00000338128p.A466Sc.1396G>TSubstitution - Missense
CYSLTR1ENSG00000173198ENST00000373304p.K138Qc.412A>CSubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.S178Nc.533G>ASubstitution - Missense
HDXENSG00000165259ENST00000297977p.I482Kc.1445T>ASubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.R929Hc.2786G>ASubstitution - Missense
ENST00000380437p.L1109Fc.3327G>CSubstitution - Missense
MYCENSG00000136997ENST00000377970p.T23_N24delTNc.66_71delCACCAADeletion - In frame
MYCENSG00000136997ENST00000377970p.E43Dc.129G>TSubstitution - Missense
NM_002467.2p.E28Dc.84G>TSubstitution - Missense
MYCENSG00000136997ENST00000377970p.S218Nc.653G>ASubstitution - Missense
NM_002467.2p.S203Nc.608G>ASubstitution - Missense
MYCENSG00000136997ENST00000377970p.?c.803-81_969del248Unknown
NM_002467.2p.K412Kc.1236G>ASubstitution - coding silent
MYCENSG00000136997ENST00000377970p.N451fs*>2c.1350_1356delGAACTCTDeletion - Frameshift
NM_002467.2p.N436fs*>2c.1305_1311delGAACTCTDeletion - Frameshift
DHRS9ENSG00000073737ENST00000357546p.N258Dc.772A>GSubstitution - Missense
FAM49AENSG00000197872ENST00000381323p.E143Ac.428A>CSubstitution - Missense
SUSD2ENSG00000099994ENST00000358321p.R613Rc.1839C>GSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.S210delSc.616_618delTCTDeletion - In frame
KMT2CENSG00000055609ENST00000262189p.C394Yc.1181G>ASubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.L977Lc.2931T>CSubstitution - coding silent
SGCBENSG00000163069ENST00000381431p.Y184Cc.551A>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.R5910*c.17728C>TSubstitution - Nonsense
ZNF334ENSG00000198185ENST00000347606p.L516Lc.1548T>CSubstitution - coding silent
HNF4AENSG00000101076ENST00000316099p.R312Hc.935G>ASubstitution - Missense
HNF4AENSG00000101076ENST00000316673p.R290Hc.869G>ASubstitution - Missense
PIGTENSG00000124155ENST00000279036p.V358Mc.1072G>ASubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.A1281Ac.3843C>TSubstitution - coding silent
ZNF226ENSG00000167380ENST00000454662p.E534Kc.1600G>ASubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.A375Ac.1125T>GSubstitution - coding silent
ANO8ENSG00000074855ENST00000159087p.R920Qc.2759G>ASubstitution - Missense
AKAP8ENSG00000105127ENST00000269701p.D348Gc.1043A>GSubstitution - Missense
NM_014353.3p.?c.471-4G>TUnknown
VWA3AENSG00000175267ENST00000389398p.N69Nc.207C>TSubstitution - coding silent
ABRAENSG00000174429ENST00000311955p.K172Kc.516G>ASubstitution - coding silent
FZD6ENSG00000164930ENST00000522566p.V92Lc.274G>CSubstitution - Missense
ASB10ENSG00000146926ENST00000420175p.L300Lc.900G>ASubstitution - coding silent
ASB10ENSG00000146926ENST00000377867p.L285Lc.855G>ASubstitution - coding silent
ASB10ENSG00000146926ENST00000422024p.L345Lc.1035G>ASubstitution - coding silent
GIMAP7ENSG00000179144ENST00000313543p.E237Kc.709G>ASubstitution - Missense
CPED1ENSG00000106034ENST00000310396p.?c.541-10T>CUnknown
KELENSG00000197993ENST00000355265p.R292Qc.875G>ASubstitution - Missense
FAM131BENSG00000159784ENST00000409346p.G161Gc.483C>TSubstitution - coding silent
OR2F2ENSG00000221910ENST00000408955p.A116Ac.348A>GSubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
PUS7ENSG00000091127ENST00000356362p.S127Sc.381G>ASubstitution - coding silent
RINT1ENSG00000135249ENST00000257700p.Q563fs*14c.1685delTDeletion - Frameshift
CCHCR1ENSG00000204536ENST00000376266p.R611Qc.1832G>ASubstitution - Missense
MICBENSG00000204516ENST00000252229p.A316Ac.948T>ASubstitution - coding silent
HIST1H2AHENSG00000184825ENST00000377459p.V31Lc.91G>CSubstitution - Missense
FAM134BENSG00000154153ENST00000306320p.G431Sc.1291G>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.A3700Vc.11099C>TSubstitution - Missense
PCDHAC2ENSG00000243232ENST00000289269p.R78Rc.234C>TSubstitution - coding silent
ZNF275ENSG00000063587ENST00000440091p.D114Hc.340G>CSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.K483Ec.1447A>GSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.K483Ec.1447A>GSubstitution - Missense
URGCPENSG00000106608ENST00000453200p.L678Lc.2034C>TSubstitution - coding silent
ANLNENSG00000011426ENST00000265748p.K788Nc.2364G>CSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.R206Cc.616C>TSubstitution - Missense
LTBP4ENSG00000090006ENST00000308370p.G856Gc.2568C>TSubstitution - coding silent
CYP2A7ENSG00000198077ENST00000301146p.P35Lc.104C>TSubstitution - Missense
SAMD4BENSG00000179134ENST00000314471p.M629Vc.1885A>GSubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.A114Vc.341C>TSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.G1050Gc.3150A>TSubstitution - coding silent
SEMA4DENSG00000187764ENST00000450295p.A15Vc.44C>TSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.?c.7836-7C>TUnknown
SLC28A3ENSG00000197506ENST00000376238p.?c.1024-2A>GUnknown
VPS13AENSG00000197969ENST00000360280p.P974Pc.2922C>TSubstitution - coding silent
TLE4ENSG00000106829ENST00000376552p.?c.253-2A>TUnknown
RAI14ENSG00000039560ENST00000397449p.M572Tc.1715T>CSubstitution - Missense
TRIOENSG00000038382ENST00000344135p.L346Pc.1037T>CSubstitution - Missense
RBPJENSG00000168214ENST00000345843p.S143Sc.429C>TSubstitution - coding silent
DGKQENSG00000145214ENST00000273814p.Y488Yc.1464C>TSubstitution - coding silent
TRPV3ENSG00000167723ENST00000301365p.P86Sc.256C>TSubstitution - Missense
B2MENSG00000166710ENST00000544417p.A11fs*32c.32_35delCGCTDeletion - Frameshift
OR9G4ENSG00000172457ENST00000302957p.V213fs*66c.631_632insAInsertion - Frameshift
VPS8ENSG00000156931ENST00000287546p.?c.4056+6T>CUnknown
NME9ENSG00000181322ENST00000333911p.A210Dc.629C>ASubstitution - Missense
ENST00000410014_v70p.T39Tc.117T>GSubstitution - coding silent
TRAF3IP1ENSG00000204104ENST00000391994p.R347Rc.1041G>ASubstitution - coding silent
OBSL1ENSG00000124006ENST00000373873p.T344Ac.1030A>GSubstitution - Missense
DHRS9ENSG00000073737ENST00000432060p.N318Dc.952A>GSubstitution - Missense
IL1RL1ENSG00000115602ENST00000393393p.T180Tc.540C>ASubstitution - coding silent
AIFM3ENSG00000183773ENST00000405089p.Y197Yc.591C>TSubstitution - coding silent
AIFM3ENSG00000183773ENST00000335375p.Y179Yc.537C>TSubstitution - coding silent
LSM14BENSG00000149657ENST00000400318p.T222Mc.665C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.H952Yc.2854C>TSubstitution - Missense
ENST00000204005_v70p.G819Gc.2457C>TSubstitution - coding silent
CYP2A7ENSG00000198077ENST00000291764p.P35Lc.104C>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000542146p.T19Kc.56C>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.Q425Rc.1274A>GSubstitution - Missense
ST6GALNAC1ENSG00000070526ENST00000156626p.Q185Ec.553C>GSubstitution - Missense
ENST00000316490_v65p.?c.12293-1G>TUnknown
MPRIPENSG00000133030ENST00000395811p.L76Vc.226C>GSubstitution - Missense
RTN1ENSG00000139970ENST00000342503p.G86Gc.258C>ASubstitution - coding silent
EPHA10ENSG00000183317ENST00000319637p.R150Hc.449G>ASubstitution - Missense
ENST00000485269p.E119Kc.355G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366942p.S952Pc.2854T>CSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.G229Sc.685G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.G229Sc.685G>ASubstitution - Missense
CENPLENSG00000120334ENST00000356198p.R46Qc.137G>ASubstitution - Missense
FCGR3BENSG00000162747ENST00000294800p.Q48*c.142C>TSubstitution - Nonsense
DOCK9ENSG00000088387ENST00000442173p.V1195Mc.3583G>ASubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.K954Nc.2862G>CSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.P318Pc.954T>GSubstitution - coding silent
NBEAENSG00000172915ENST00000400445p.Y2520Nc.7558T>ASubstitution - Missense
OR5AR1ENSG00000172459ENST00000302969p.Q270Pc.809A>CSubstitution - Missense
RTN4RL2ENSG00000186907ENST00000335099p.A388Gc.1163C>GSubstitution - Missense
WT1ENSG00000184937ENST00000332351p.P249Tc.745C>ASubstitution - Missense
OR51F1ENSG00000188069ENST00000380383p.P67Pc.201C>ASubstitution - coding silent
HK1ENSG00000156515ENST00000360289p.I106Vc.316A>GSubstitution - Missense
ENST00000595843p.P138Lc.413C>TSubstitution - Missense
LRRC27ENSG00000148814ENST00000368610p.A43Vc.128C>TSubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.R340Cc.1018C>TSubstitution - Missense
LYRM4ENSG00000214113ENST00000330636p.I82Ic.246C>TSubstitution - coding silent
TJAP1ENSG00000137221ENST00000372444p.R517Rc.1551C>TSubstitution - coding silent
TDRD6ENSG00000180113ENST00000316081p.K164Nc.492G>TSubstitution - Missense
DDX4ENSG00000152670ENST00000505374p.H281Rc.842A>GSubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.H141Hc.423C>TSubstitution - coding silent
WDR17ENSG00000150627ENST00000280190p.R1194Cc.3580C>TSubstitution - Missense
OPA1ENSG00000198836ENST00000361510p.H223Rc.668A>GSubstitution - Missense
FAM198BENSG00000164125ENST00000393807p.S445Ic.1334G>TSubstitution - Missense
FGFBP2ENSG00000137441ENST00000259989p.G146Rc.436G>ASubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.?c.2582+9A>CUnknown
CRYGSENSG00000213139ENST00000307944p.E113Kc.337G>ASubstitution - Missense
IL1RAPENSG00000196083ENST00000443369p.I15Ic.45C>ASubstitution - coding silent
IL1RAPENSG00000196083ENST00000072516p.I15Ic.45C>ASubstitution - coding silent
FAM129BENSG00000136830ENST00000373312p.N74Sc.221A>GSubstitution - Missense
PDCLENSG00000136940ENST00000259467p.E85Ec.255A>GSubstitution - coding silent
TLR4ENSG00000136869ENST00000355622p.S100Ic.299G>TSubstitution - Missense
KCNQ3ENSG00000184156ENST00000388996p.K634Kc.1902G>ASubstitution - coding silent
ZNF572ENSG00000180938ENST00000319286p.E325Kc.973G>ASubstitution - Missense
NSMCE2ENSG00000156831ENST00000287437p.R73Wc.217C>TSubstitution - Missense
FAM231DENSG00000203815ENST00000369173p.T38Nc.113C>ASubstitution - Missense
ANO4ENSG00000151572ENST00000538618p.G161Cc.481G>TSubstitution - Missense
KLENSG00000133116ENST00000380099p.R719Kc.2156G>ASubstitution - Missense
NCDNENSG00000020129ENST00000373243p.T543Ac.1627A>GSubstitution - Missense
ID3ENSG00000117318ENST00000374561p.C10Fc.29G>TSubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.?c.41-5C>GUnknown
ENST00000368148p.T1473Mc.4418C>TSubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.I575Mc.1725C>GSubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.T1023Tc.3069T>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.E129Qc.385G>CSubstitution - Missense
TECRLENSG00000205678ENST00000381210p.R179Lc.536G>TSubstitution - Missense
OFD1ENSG00000046651ENST00000398395p.N168Sc.503A>GSubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.R34fs*54c.96_97insCInsertion - Frameshift
NTRK2ENSG00000148053ENST00000304053p.R42Gc.124C>GSubstitution - Missense
THEMISENSG00000172673ENST00000368248p.Y489Fc.1466A>TSubstitution - Missense
SLC26A8ENSG00000112053ENST00000355574p.S7Sc.21C>TSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.R121Hc.362G>ASubstitution - Missense
KHDRBS2ENSG00000112232ENST00000281156p.L152Lc.454T>CSubstitution - coding silent
CRXENSG00000105392ENST00000221996p.L299Fc.897G>CSubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.S178Nc.533G>ASubstitution - Missense
ENST00000396788p.R1227Rc.3681G>ASubstitution - coding silent
CATSPERDENSG00000174898ENST00000381624p.T705Tc.2115C>ASubstitution - coding silent
MFI2ENSG00000163975ENST00000296351p.W246Lc.737G>TSubstitution - Missense
NRIP1ENSG00000180530ENST00000400199p.A244Ac.732A>TSubstitution - coding silent
RNF165ENSG00000141622ENST00000269439p.L114Mc.340C>ASubstitution - Missense
HSPBP1ENSG00000133265ENST00000255631p.H289Hc.867C>TSubstitution - coding silent
ENST00000252134p.S71Sc.213T>CSubstitution - coding silent
GABRA4ENSG00000109158ENST00000264318p.A442Pc.1324G>CSubstitution - Missense
NUP205ENSG00000155561ENST00000285968p.?c.1473+5G>AUnknown
ITGB2ENSG00000160255ENST00000397852p.R733Rc.2199G>TSubstitution - coding silent
ENST00000357979p.R57Ic.170G>TSubstitution - Missense
SU_WNK2p.T2200Tc.6600C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.P318Pc.954T>GSubstitution - coding silent
ENST00000375815p.G788Gc.2364C>ASubstitution - coding silent
KDM5BENSG00000117139ENST00000367265p.R98Hc.293G>ASubstitution - Missense
ENST00000367349p.I467Sc.1400T>GSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.M1151Vc.3451A>GSubstitution - Missense
ENST00000368148p.G650Sc.1948G>ASubstitution - Missense
GPN3ENSG00000111231ENST00000228827p.G10Dc.29G>ASubstitution - Missense
PHKA1ENSG00000067177ENST00000373539p.N323Nc.969C>TSubstitution - coding silent
PCDH11XENSG00000102290ENST00000361724p.D740Ec.2220T>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.D740Ec.2220T>ASubstitution - Missense
MAGEB16ENSG00000189023ENST00000399992p.G231Gc.693T>CSubstitution - coding silent
ARHGAP6ENSG00000047648ENST00000380718p.E611Kc.1831G>ASubstitution - Missense
ARHGAP6ENSG00000047648ENST00000534860p.E436Kc.1306G>ASubstitution - Missense
AMOTENSG00000126016ENST00000371958p.?c.934+4A>CUnknown
ERMP1ENSG00000099219ENST00000543230p.N290Sc.869A>GSubstitution - Missense
NTRK2ENSG00000148053ENST00000395882p.R42Gc.124C>GSubstitution - Missense
TTC39BENSG00000155158ENST00000380850p.E52Qc.154G>CSubstitution - Missense
ENST00000307015p.L582Fc.1746G>CSubstitution - Missense
ENST00000540645p.T8Mc.23C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.P1270Pc.3810T>CSubstitution - coding silent
ZFP37ENSG00000136866ENST00000553380p.L383Ic.1147C>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000381862p.S202Sc.606T>GSubstitution - coding silent
C8orf34ENSG00000165084ENST00000325233p.V152Lc.454G>TSubstitution - Missense
MYCENSG00000136997ENST00000377970p.L449Lc.1345C>TSubstitution - coding silent
NM_002467.2p.L434Lc.1300C>TSubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.P470Lc.1409C>TSubstitution - Missense
CPED1ENSG00000106034ENST00000450913p.?c.541-10T>CUnknown
FILIP1ENSG00000118407ENST00000393004p.S994Gc.2980A>GSubstitution - Missense
SYNGAP1ENSG00000197283ENST00000293748p.R25Qc.74G>ASubstitution - Missense
AIF1ENSG00000204472ENST00000337917p.E70Dc.210G>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000367174p.S688Sc.2064C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.C4322Fc.12965G>TSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.R733Qc.2198G>ASubstitution - Missense
ZDHHC8ENSG00000099904ENST00000405930p.S537Sc.1611G>ASubstitution - coding silent
PON3ENSG00000105852ENST00000265627p.?c.201+3G>CUnknown
ENST00000357934p.G15Gc.45G>TSubstitution - coding silent
AGKENSG00000006530ENST00000355413p.K171Ec.511A>GSubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.N376Hc.1126A>CSubstitution - Missense
KLK5ENSG00000167754ENST00000336334p.C73Cc.219C>TSubstitution - coding silent
LRRC8EENSG00000171017ENST00000306708p.E758Ec.2274G>ASubstitution - coding silent
SRSF11ENSG00000116754ENST00000370950p.K398Rc.1193A>GSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.?c.3700+8T>CUnknown
C2orf43ENSG00000118961ENST00000237822p.P156Pc.468G>ASubstitution - coding silent
AGXT2ENSG00000113492ENST00000231420p.P256Sc.766C>TSubstitution - Missense
GRTP1ENSG00000139835ENST00000375431p.G54Rc.160G>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375608p.?c.2152-10C>TUnknown
LRRC7ENSG00000033122ENST00000035383p.D132Dc.396T>CSubstitution - coding silent
CILPENSG00000138615ENST00000261883p.G271Dc.812G>ASubstitution - Missense
RPL27AENSG00000166441ENST00000314138p.?c.318_319-2del785Unknown
CACNA1CENSG00000151067ENST00000399634p.T1621Tc.4863G>ASubstitution - coding silent
MDM2ENSG00000135679ENST00000462284p.?c.524-3C>TUnknown
CD163L1ENSG00000177675ENST00000313599p.G1203Dc.3608G>ASubstitution - Missense
CCDC62ENSG00000130783ENST00000253079p.N679fs*>6c.2030delADeletion - Frameshift
C11orf52ENSG00000149300ENST00000278601p.P43Lc.128C>TSubstitution - Missense
RPS2ENSG00000140988ENST00000343262p.T149Tc.447C>GSubstitution - coding silent
MYH11ENSG00000133392ENST00000396324p.P82Hc.245C>ASubstitution - Missense
FCGR3AENSG00000203747ENST00000367969p.Q84*c.250C>TSubstitution - Nonsense
AIFM2ENSG00000042286ENST00000307864p.?c.178+7T>AUnknown
JMJD1CENSG00000171988ENST00000399262p.L82Lc.244T>CSubstitution - coding silent
DVL1ENSG00000107404ENST00000378891p.S236Fc.707C>TSubstitution - Missense
TEKT2ENSG00000092850ENST00000207457p.T398Ac.1192A>GSubstitution - Missense
ANKS1BENSG00000185046ENST00000547776p.K954Nc.2862G>CSubstitution - Missense
RLBP1ENSG00000140522ENST00000268125p.R64Qc.191G>ASubstitution - Missense
NM_014903.3p.A393Ac.1179C>TSubstitution - coding silent
BAZ2AENSG00000076108ENST00000551812p.C1037Rc.3109T>CSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.A1544Ac.4632C>GSubstitution - coding silent
SAMD8ENSG00000156671ENST00000372687p.M170Vc.508A>GSubstitution - Missense
ETS1ENSG00000134954ENST00000319397p.E17Kc.49G>ASubstitution - Missense
NFX1ENSG00000086102ENST00000379540p.R612Wc.1834C>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.T578Kc.1733C>ASubstitution - Missense
ENST00000295713_v70p.?c.1919+4C>TUnknown
RINLENSG00000187994ENST00000591812p.A516Pc.1546G>CSubstitution - Missense
SPRTNENSG00000010072ENST00000366644p.G77Rc.229G>CSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.R7611*c.22831C>TSubstitution - Nonsense
NEUROD6ENSG00000164600ENST00000297142p.E24Ac.71A>CSubstitution - Missense
OFD1ENSG00000046651ENST00000340096p.N168Sc.503A>GSubstitution - Missense
AVPR2ENSG00000126895ENST00000358927p.A295Vc.884C>TSubstitution - Missense
ARAP3ENSG00000120318ENST00000239440p.E484Kc.1450G>ASubstitution - Missense
MAN1A1ENSG00000111885ENST00000368468p.L142Lc.424C>TSubstitution - coding silent
EIF3DENSG00000100353ENST00000216190p.G386Rc.1156G>CSubstitution - Missense
LMF2ENSG00000100258ENST00000216080p.V394Vc.1182G>ASubstitution - coding silent
C7orf62ENSG00000164645ENST00000297203p.M224Vc.670A>GSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.T344Ac.1030A>GSubstitution - Missense
SHPRHENSG00000146414ENST00000367505p.T288Tc.864G>ASubstitution - coding silent
ZNF583ENSG00000198440ENST00000291598p.N559Kc.1677T>ASubstitution - Missense
RRP1ENSG00000160214ENST00000497547p.?c.274+2T>CUnknown
EMILIN2ENSG00000132205ENST00000254528p.C688Sc.2063G>CSubstitution - Missense
ENST00000360228_v70p.A56Ac.168G>ASubstitution - coding silent
ST6GALNAC1ENSG00000070526ENST00000156626p.H184delHc.552_554delCCADeletion - In frame
ENST00000262211p.T317Nc.950C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.G1271Gc.3813T>GSubstitution - coding silent
TCF12ENSG00000140262ENST00000343827p.S374fs*11c.1117_1118insAInsertion - Frameshift
CACNA1CENSG00000151067ENST00000399617p.T1621Tc.4863G>ASubstitution - coding silent
CHTOPENSG00000160679ENST00000368694p.R121Hc.362G>ASubstitution - Missense
SYNDIG1LENSG00000183379ENST00000331628p.A215Vc.644C>TSubstitution - Missense
FYBENSG00000082074ENST00000351578p.A169Vc.506C>TSubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.T196Mc.587C>TSubstitution - Missense
SYBUENSG00000147642ENST00000422135p.M207Vc.619A>GSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S952Pc.2854T>CSubstitution - Missense
ZNF33AENSG00000189180ENST00000432900p.?c.176-5A>CUnknown
PDE4DIPENSG00000178104ENST00000369351p.P161Pc.483C>TSubstitution - coding silent
VPS8ENSG00000156931ENST00000437079p.?c.4056+6T>CUnknown
NM_002467.2p.?c.758-81_924del248Unknown
AMBPENSG00000106927ENST00000265132p.T67Mc.200C>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.Y2926Cc.8777A>GSubstitution - Missense
ANO8ENSG00000074855ENST00000159087p.L466Lc.1396T>CSubstitution - coding silent
ENST00000400460p.P88Pc.264G>ASubstitution - coding silent
SLC12A5ENSG00000124140ENST00000243964p.C142Yc.425G>ASubstitution - Missense
PCDHA5ENSG00000204965ENST00000529619p.R889Rc.2667C>TSubstitution - coding silent
RNGTTENSG00000111880ENST00000369475p.I531Vc.1591A>GSubstitution - Missense
MORN2ENSG00000188010ENST00000410014p.T39Tc.117T>GSubstitution - coding silent
TBC1D31ENSG00000156787ENST00000287380p.?c.1210-9T>CUnknown
TUBGCP6ENSG00000128159ENST00000248846p.A1532Vc.4595C>TSubstitution - Missense
GRWD1ENSG00000105447ENST00000253237p.E386Kc.1156G>ASubstitution - Missense
SMPD4ENSG00000136699ENST00000409031p.R334Qc.1001G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.S957Yc.2870C>ASubstitution - Missense
COPS4ENSG00000138663ENST00000264389p.R193Hc.578G>ASubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.D474Nc.1420G>ASubstitution - Missense
CD28ENSG00000178562ENST00000324106p.A31Vc.92C>TSubstitution - Missense
LIMCH1ENSG00000064042ENST00000503057p.M304Vc.910A>GSubstitution - Missense
CPDENSG00000108582ENST00000225719p.T470Rc.1409C>GSubstitution - Missense
AMOTENSG00000126016ENST00000371959p.?c.1630+4A>CUnknown
TNFRSF19ENSG00000127863ENST00000382258p.E146Kc.436G>ASubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.A704Tc.2110G>ASubstitution - Missense
XRN2ENSG00000088930ENST00000377191p.?c.2255+4A>GUnknown
RIMBP2ENSG00000060709ENST00000261655p.E584Kc.1750G>ASubstitution - Missense
KCNC4ENSG00000116396ENST00000369787p.A573Gc.1718C>GSubstitution - Missense
NM_005933.1p.K216Ec.646A>GSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.P1548fs*8c.4639delCDeletion - Frameshift
FRMD4AENSG00000151474ENST00000357447p.?c.2953+10G>TUnknown
NM_014903.3p.R247Kc.740G>ASubstitution - Missense
ETS1ENSG00000134954ENST00000319397p.T16Mc.47C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.G229Sc.685G>ASubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.R340Cc.1018C>TSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.R2056Qc.6167G>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.S1312Sc.3936C>TSubstitution - coding silent
CLEC16AENSG00000038532ENST00000381822p.L96Lc.288T>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000541502p.E1077Dc.3231G>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.T2810Sc.8428A>TSubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.L749Lc.2245T>CSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.C394Yc.1181G>ASubstitution - Missense
ZNF275ENSG00000063587ENST00000440091p.G113Gc.339G>ASubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.I2612Tc.7835T>CSubstitution - Missense
PCDH7ENSG00000169851ENST00000361762p.L652Vc.1954T>GSubstitution - Missense
MUSKENSG00000030304ENST00000374448p.I855Tc.2564T>CSubstitution - Missense
HIVEP1ENSG00000095951ENST00000379388p.H1524Hc.4572C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000302640p.P390Ac.1168C>GSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.P390Ac.1168C>GSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.T218Kc.653C>ASubstitution - Missense
R3HDM1ENSG00000048991ENST00000264160p.I716Tc.2147T>CSubstitution - Missense
ENST00000298728p.P539Pc.1617G>ASubstitution - coding silent
PRKAG3ENSG00000115592ENST00000233944p.L413Vc.1237C>GSubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.G1001Gc.3003G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.C4575Fc.13724G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.C4575Fc.13724G>TSubstitution - Missense
SLC20A1ENSG00000144136ENST00000272542p.G129Ec.386G>ASubstitution - Missense
IL1RL1ENSG00000115602ENST00000233954p.T180Tc.540C>ASubstitution - coding silent
CDH8ENSG00000150394ENST00000577390p.L624Vc.1870T>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
BHLHE40ENSG00000134107ENST00000256495p.P316Sc.946C>TSubstitution - Missense
LIASENSG00000121897ENST00000261434p.?c.393+10G>AUnknown
KCTD8ENSG00000183783ENST00000360029p.A31Gc.92C>GSubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.G916Gc.2748C>TSubstitution - coding silent
KCNJ12ENSG00000184185ENST00000331718p.V47Ic.139G>ASubstitution - Missense
FOXP1ENSG00000114861ENST00000318779p.E8Qc.22G>CSubstitution - Missense
TANC2ENSG00000170921ENST00000389520p.M705Ic.2115G>ASubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.K307Kc.921A>GSubstitution - coding silent
WNK2ENSG00000165238ENST00000297954p.T2252Tc.6756C>TSubstitution - coding silent
NPHP4ENSG00000131697ENST00000378156p.T1004Tc.3012G>ASubstitution - coding silent
LPCAT4ENSG00000176454ENST00000314891p.R163fs*6c.488_504del17Deletion - Frameshift
GRTP1ENSG00000139835ENST00000375430p.G54Rc.160G>CSubstitution - Missense
TCF12ENSG00000140262ENST00000438423p.S568fs*11c.1699_1700insAInsertion - Frameshift
ANXA2ENSG00000182718ENST00000332680p.?c.891+6G>AUnknown
PDE4DIPENSG00000178104ENST00000369356p.P161Pc.483C>TSubstitution - coding silent
HIPK3ENSG00000110422ENST00000303296p.V84Ic.250G>ASubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.R104Sc.310C>ASubstitution - Missense
TDRD9ENSG00000156414ENST00000339063p.G626Vc.1877G>TSubstitution - Missense
SLC2A3ENSG00000059804ENST00000075120p.I37Tc.110T>CSubstitution - Missense
LRTM2ENSG00000166159ENST00000299194p.P356Pc.1068C>TSubstitution - coding silent
LMO7ENSG00000136153ENST00000465261p.D561Gc.1682A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1616Sc.4846C>TSubstitution - Missense
XPO7ENSG00000130227ENST00000434536p.Q1069Rc.3206A>GSubstitution - Missense
PLCB4ENSG00000101333ENST00000378473p.?c.1238+2T>AUnknown
USP41ENSG00000161133ENST00000454608p.?c.892-8C>GUnknown
ENST00000263281_v70p.V356Mc.1066G>ASubstitution - Missense
HLA-DOAENSG00000204252ENST00000229829p.H175Rc.524A>GSubstitution - Missense
PIGTENSG00000124155ENST00000279036p.V358Mc.1072G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.R7611*c.22831C>TSubstitution - Nonsense
URGCPENSG00000106608ENST00000223341p.L635Lc.1905C>TSubstitution - coding silent
PRKD3ENSG00000115825ENST00000379066p.N350Hc.1048A>CSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.L2847Pc.8540T>CSubstitution - Missense
ZNF781ENSG00000196381ENST00000358582p.I135Ic.405C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.E1562Kc.4684G>ASubstitution - Missense
KIAA1430ENSG00000164323ENST00000296775p.H221Qc.663C>GSubstitution - Missense
KAL1ENSG00000011201ENST00000262648p.Q635Hc.1905A>TSubstitution - Missense
HNMTENSG00000150540ENST00000280097p.E118Ec.354G>ASubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.T6Sc.16A>TSubstitution - Missense
CYP26B1ENSG00000003137ENST00000001146p.E152Ec.456G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P3456Sc.10366C>TSubstitution - Missense
SPATA2LENSG00000158792ENST00000289805p.?c.304-7C>AUnknown
LARGEENSG00000133424ENST00000397394p.?c.1877+9C>AUnknown
MTUS1ENSG00000129422ENST00000262102p.S202Sc.606T>GSubstitution - coding silent
C8orf34ENSG00000165084ENST00000337103p.V383Lc.1147G>TSubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.G934Sc.2800G>ASubstitution - Missense
OSR2ENSG00000164920ENST00000297565p.H278Dc.832C>GSubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.?c.6108-10C>GUnknown
DISP2ENSG00000140323ENST00000267889p.S1312Sc.3936C>TSubstitution - coding silent
CLCA2ENSG00000137975ENST00000370565p.G534_P536delGPPc.1599_1607delTGGTCCTCCDeletion - In frame
DUOX1ENSG00000137857ENST00000389037p.R746Rc.2238G>ASubstitution - coding silent
RTN1ENSG00000139970ENST00000267484p.G654Gc.1962C>ASubstitution - coding silent
SPAG17ENSG00000155761ENST00000336338p.I867Mc.2601A>GSubstitution - Missense
P2RX7ENSG00000089041ENST00000546057p.L278Fc.832C>TSubstitution - Missense
HK1ENSG00000156515ENST00000298649p.I117Vc.349A>GSubstitution - Missense
FCRLBENSG00000162746ENST00000367948p.V109Lc.325G>CSubstitution - Missense
INCENPENSG00000149503ENST00000394818p.R338Kc.1013G>ASubstitution - Missense
ANKLE2ENSG00000176915ENST00000357997p.T64Ic.191C>TSubstitution - Missense
NCKAP5LENSG00000167566ENST00000335999p.Q517Ec.1549C>GSubstitution - Missense
HIST4H4ENSG00000197837ENST00000358064p.G100Dc.299G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.V3875Ac.11624T>CSubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.V1195Mc.3583G>ASubstitution - Missense
ZNF33AENSG00000189180ENST00000307441p.?c.155-5A>CUnknown
NEU3ENSG00000162139ENST00000294064p.R278Wc.832C>TSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
ID3ENSG00000117318ENST00000374561p.Y48*c.144C>GSubstitution - Nonsense
SPATA2LENSG00000158792ENST00000335360p.?c.304-7C>AUnknown
MUC12ENSG00000205277ENST00000379442p.A2894Tc.8680G>ASubstitution - Missense
SYNGAP1ENSG00000197283ENST00000418600p.R25Qc.74G>ASubstitution - Missense
C20orf96ENSG00000196476ENST00000382369p.G73Rc.217G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.?c.848+7A>GUnknown
ARHGAP33ENSG00000004777ENST00000378944p.Q778Kc.2332C>ASubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.P1269Pc.3807T>CSubstitution - coding silent
AGO2ENSG00000123908ENST00000220592p.?c.790+10T>AUnknown
SLC35B2ENSG00000157593ENST00000393812p.S137Tc.410G>CSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.Y108*c.324C>GSubstitution - Nonsense
ASB10ENSG00000146926ENST00000275838p.L300Lc.900G>ASubstitution - coding silent
RSPO3ENSG00000146374ENST00000356698p.N36Nc.108C>TSubstitution - coding silent
NME1-NME2ENSG00000243678ENST00000514264p.V140Ac.419T>CSubstitution - Missense
ALDH1L1ENSG00000144908ENST00000455064p.R6Tc.17G>CSubstitution - Missense
IRF4ENSG00000137265ENST00000380956p.Y415delYc.1240_1242delTATDeletion - In frame
CNKSR2ENSG00000149970ENST00000379510p.V749Vc.2247A>GSubstitution - coding silent
INPP5DENSG00000168918ENST00000359570p.R982Qc.2945G>ASubstitution - Missense
ZNF784ENSG00000179922ENST00000325351p.A293Vc.878C>TSubstitution - Missense
HNF4GENSG00000164749ENST00000396423p.Y103Nc.307T>ASubstitution - Missense
AFG3L2ENSG00000141385ENST00000269143p.I264Ic.792C>TSubstitution - coding silent
N4BP2ENSG00000078177ENST00000261435p.L1725Fc.5175G>TSubstitution - Missense
ENST00000357018p.A56Ac.168G>ASubstitution - coding silent
GCC1ENSG00000179562ENST00000321407p.A327Ac.981T>CSubstitution - coding silent
FOXP1ENSG00000114861ENST00000318779p.G30Ac.89G>CSubstitution - Missense
PIGUENSG00000101464ENST00000217446p.Q118Rc.353A>GSubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.D1410Dc.4230C>TSubstitution - coding silent
NUDT7ENSG00000140876ENST00000268533p.E96Dc.288A>CSubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.?c.667-6C>TUnknown
DDX55ENSG00000111364ENST00000238146p.T481Tc.1443C>TSubstitution - coding silent
ENST00000429306p.P47Pc.141C>ASubstitution - coding silent
SDSENSG00000135094ENST00000257549p.P128Pc.384G>ASubstitution - coding silent
TTLL13ENSG00000213471ENST00000339615p.?c.1167+1G>AUnknown
ANK3ENSG00000151150ENST00000280772p.N2862Sc.8585A>GSubstitution - Missense
GABPB2ENSG00000143458ENST00000368918p.V400Vc.1200T>GSubstitution - coding silent
ZNF215ENSG00000149054ENST00000278319p.L91Vc.271T>GSubstitution - Missense
MYRFENSG00000124920ENST00000265460p.?c.372-4G>AUnknown
MEX3BENSG00000183496ENST00000329713p.F380Fc.1140C>TSubstitution - coding silent
SOAT2ENSG00000167780ENST00000301466p.G306Ec.917G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000357063p.D846Gc.2537A>GSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.G436Cc.1306G>TSubstitution - Missense
MUSKENSG00000030304ENST00000189978p.I861Tc.2582T>CSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.E2722Qc.8164G>CSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.S3045Rc.9133A>CSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.L1435Vc.4303T>GSubstitution - Missense
SYTL1ENSG00000142765ENST00000318074p.E354Kc.1060G>ASubstitution - Missense
NIPAL3ENSG00000001461ENST00000432012p.R109Rc.327G>ASubstitution - coding silent
CSPG5ENSG00000114646ENST00000383738p.I143Tc.428T>CSubstitution - Missense
ANKS1BENSG00000185046ENST00000332712p.K180Nc.540G>CSubstitution - Missense
HLA-DOAENSG00000204252ENST00000450833p.H145Rc.434A>GSubstitution - Missense
TRIM23ENSG00000113595ENST00000231524p.?c.1310-8T>AUnknown
CD97ENSG00000123146ENST00000242786p.A103Ac.309A>CSubstitution - coding silent
MAP4K1ENSG00000104814ENST00000396857p.?c.665+10C>TUnknown
GABRA3ENSG00000011677ENST00000370314p.I469Lc.1405A>TSubstitution - Missense
NTRK2ENSG00000148053ENST00000376214p.R42Gc.124C>GSubstitution - Missense
MCM9ENSG00000111877ENST00000316316p.N847Yc.2539A>TSubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.R811*c.2431C>TSubstitution - Nonsense
KIF6ENSG00000164627ENST00000287152p.R42Cc.124C>TSubstitution - Missense
PAX3ENSG00000135903ENST00000392069p.Q306fs*75c.916delCDeletion - Frameshift
FAM47CENSG00000198173ENST00000358047p.S616Sc.1848T>CSubstitution - coding silent
NM_000933.2p.?c.1238+2T>AUnknown
EPG5ENSG00000152223ENST00000282041p.K1368Nc.4104G>CSubstitution - Missense
NM_001184p.R2066Qc.6197G>ASubstitution - Missense
PHKA1ENSG00000067177ENST00000373542p.N323Nc.969C>TSubstitution - coding silent
IL12RB1ENSG00000096996ENST00000430026p.P228Pc.684C>GSubstitution - coding silent
KDM5CENSG00000126012ENST00000375401p.R378Pc.1133G>CSubstitution - Missense
DUS3LENSG00000141994ENST00000309061p.Q98Hc.294G>TSubstitution - Missense
ENST00000304488p.L52Vc.154C>GSubstitution - Missense
PRDM14ENSG00000147596ENST00000276594p.K276Ec.826A>GSubstitution - Missense
ITGB1BP1ENSG00000119185ENST00000360635p.S115Fc.344C>TSubstitution - Missense
VSTM2BENSG00000187135ENST00000335523p.?c.297+1_297+2insTUnknown
NM_003319p.R2494Hc.7481G>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.A1723Ac.5169A>GSubstitution - coding silent
FYBENSG00000082074ENST00000505428p.A169Vc.506C>TSubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.T2535Tc.7605C>TSubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.N907Nc.2721C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.K1233Tc.3698A>CSubstitution - Missense
KCNC4ENSG00000116396ENST00000438661p.A573Gc.1718C>GSubstitution - Missense
WT1ENSG00000184937ENST00000379079p.P37Tc.109C>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.L1009Lc.3027T>CSubstitution - coding silent
HK1ENSG00000156515ENST00000404387p.I122Vc.364A>GSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.E1076*c.3226G>TSubstitution - Nonsense
SDC3ENSG00000162512ENST00000339394p.R255Rc.763C>ASubstitution - coding silent
AF282265.1p.R338Kc.1013G>ASubstitution - Missense
TDRD1ENSG00000095627ENST00000251864p.L947Lc.2841A>GSubstitution - coding silent
PSMC3ENSG00000165916ENST00000298852p.Q26*c.76C>TSubstitution - Nonsense
ANO2ENSG00000047617ENST00000546188p.I121Ic.363C>TSubstitution - coding silent
ENST00000316043p.A23Vc.68C>TSubstitution - Missense
INTS6ENSG00000102786ENST00000311234p.Y351Yc.1053C>TSubstitution - coding silent
LMO7ENSG00000136153ENST00000465261p.L182Fc.546G>CSubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.T1704Tc.5112G>ASubstitution - coding silent
B3GNT7ENSG00000156966ENST00000287590p.L29Ic.85C>ASubstitution - Missense
TRIM23ENSG00000113595ENST00000381018p.?c.1310-8T>AUnknown
SSX2IPENSG00000117155ENST00000370612p.G525Rc.1573G>CSubstitution - Missense
OR4C12ENSG00000221954ENST00000335238p.M57Tc.170T>CSubstitution - Missense
ANKLE2ENSG00000176915ENST00000337516p.T64Ic.191C>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000498193p.M1151Vc.3451A>GSubstitution - Missense
ZBTB12ENSG00000204366ENST00000375527p.P169Pc.507A>CSubstitution - coding silent
ENST00000376051p.E2Dc.6G>TSubstitution - Missense
AIFM3ENSG00000183773ENST00000399167p.Y191Yc.573C>TSubstitution - coding silent
ZNF398ENSG00000197024ENST00000475153p.D190Gc.569A>GSubstitution - Missense
C7orf57ENSG00000164746ENST00000348904p.A266Tc.796G>ASubstitution - Missense
OTUD4ENSG00000164164ENST00000454497p.R355*c.1063A>TSubstitution - Nonsense
FIG4ENSG00000112367ENST00000230124p.T741Tc.2223G>TSubstitution - coding silent
STARD8ENSG00000130052ENST00000374599p.R1009Hc.3026G>ASubstitution - Missense
TICAM1ENSG00000127666ENST00000248244p.G424Rc.1270G>ASubstitution - Missense
SLC45A2ENSG00000164175ENST00000345083p.S288Fc.863C>TSubstitution - Missense
BBS12ENSG00000181004ENST00000314218p.E42Kc.124G>ASubstitution - Missense
LONP1ENSG00000196365ENST00000360614p.I142Mc.426C>GSubstitution - Missense
AFF1ENSG00000172493ENST00000395146p.R540Rc.1620G>ASubstitution - coding silent
ZNRF3ENSG00000183579ENST00000406323p.T711Ic.2132C>TSubstitution - Missense
LENG1ENSG00000105617ENST00000222224p.E103Dc.309G>TSubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.R358Cc.1072C>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.P2122Tc.6364C>ASubstitution - Missense
GLI4ENSG00000250571ENST00000340042p.G329Gc.987C>TSubstitution - coding silent
ERMP1ENSG00000099219ENST00000339450p.N712Sc.2135A>GSubstitution - Missense
MCPH1ENSG00000147316ENST00000344683p.L405Pc.1214T>CSubstitution - Missense
SERPINA12ENSG00000165953ENST00000556881p.R363Sc.1089G>TSubstitution - Missense
SLC5A12ENSG00000148942ENST00000280467p.A7Sc.19G>TSubstitution - Missense
ENST00000310358p.P264Pc.792C>TSubstitution - coding silent
NR1I3ENSG00000143257ENST00000428574p.I187Tc.560T>CSubstitution - Missense
ANKS1BENSG00000185046ENST00000549493p.K180Nc.540G>CSubstitution - Missense
ISG20ENSG00000172183ENST00000306072p.L30Lc.90C>GSubstitution - coding silent
CARNS1ENSG00000172508ENST00000307823p.R287Hc.860G>ASubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.E338Dc.1014G>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.V3237Fc.9709G>TSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.E958Dc.2874G>TSubstitution - Missense
MEP1BENSG00000141434ENST00000269202p.D315Nc.943G>ASubstitution - Missense
SPINK5ENSG00000133710ENST00000256084p.R241Lc.722G>TSubstitution - Missense
PTPN6ENSG00000111679ENST00000456013p.D419Gc.1256A>GSubstitution - Missense
MYCENSG00000136997ENST00000377970p.K427Kc.1281G>ASubstitution - coding silent
HLA-DOAENSG00000204252ENST00000229829p.?c.83-2A>TUnknown
VWA7ENSG00000204396ENST00000375688p.I609Sc.1826T>GSubstitution - Missense
WFDC3ENSG00000124116ENST00000243938p.G124Ac.371G>CSubstitution - Missense
LZTR1ENSG00000099949ENST00000215739p.N253Yc.757A>TSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.V66Mc.196G>ASubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.P86Sc.256C>TSubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.D1326Hc.3976G>CSubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.V854Vc.2562G>ASubstitution - coding silent
PCSK1ENSG00000175426ENST00000311106p.?c.397-6T>CUnknown
PCDH11XENSG00000102290ENST00000373094p.D740Ec.2220T>ASubstitution - Missense
ZC3H7BENSG00000100403ENST00000352645p.A332Ac.996C>TSubstitution - coding silent
ROS1ENSG00000047936ENST00000368508p.A642Sc.1924G>TSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.P160Sc.478C>TSubstitution - Missense
TTC39BENSG00000155158ENST00000512701p.E52Qc.154G>CSubstitution - Missense
KCTD20ENSG00000112078ENST00000373731p.S284Sc.852C>TSubstitution - coding silent
CLSTN2ENSG00000158258ENST00000458420p.I80Lc.238A>CSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.E1996Kc.5986G>ASubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.R1802Qc.5405G>ASubstitution - Missense
HOXA1ENSG00000105991ENST00000343060p.H72_R73insHc.214_215insACCInsertion - In frame
ENST00000380830p.H515Lc.1544A>TSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.W804*c.2412G>ASubstitution - Nonsense
IL1RL1ENSG00000115602ENST00000311734p.T180Tc.540C>ASubstitution - coding silent
SMPD3ENSG00000103056ENST00000219334p.R93Qc.278G>ASubstitution - Missense
HNRNPDLENSG00000152795ENST00000295470p.G366Ac.1097G>CSubstitution - Missense
ZNF814ENSG00000204514ENST00000435989p.R792Kc.2375G>ASubstitution - Missense
PAK2ENSG00000180370ENST00000327134p.Q116Pc.347A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2971Rc.8912C>GSubstitution - Missense
ZNF528ENSG00000167555ENST00000360465p.L609Vc.1825C>GSubstitution - Missense
SLCO5A1ENSG00000137571ENST00000260126p.S161Nc.482G>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000518698p.V408Lc.1222G>TSubstitution - Missense
RGAG1ENSG00000243978ENST00000465301p.I1202Lc.3604A>CSubstitution - Missense
UBE2MENSG00000130725ENST00000253023p.G170Gc.510T>GSubstitution - coding silent
MYBBP1AENSG00000132382ENST00000254718p.L628Lc.1882C>TSubstitution - coding silent
PTPLAD1ENSG00000074696ENST00000261875p.?c.87+9C>TUnknown
ENST00000298047_v61p.E1077Dc.3231G>TSubstitution - Missense
ATP8B4ENSG00000104043ENST00000284509p.D420Yc.1258G>TSubstitution - Missense
SHCBP1LENSG00000157060ENST00000367547p.N285fs*58c.853_856delAATTDeletion - Frameshift
CLCN7ENSG00000103249ENST00000382745p.F336Fc.1008C>TSubstitution - coding silent
PLOD1ENSG00000083444ENST00000196061p.?c.1471-5C>TUnknown
LY9ENSG00000122224ENST00000368041p.T253Mc.758C>TSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000337414p.E611Kc.1831G>ASubstitution - Missense
MX2ENSG00000183486ENST00000330714p.S147Sc.441C>TSubstitution - coding silent
NIPAL3ENSG00000001461ENST00000339255p.E298Kc.892G>ASubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.P228Pc.684C>GSubstitution - coding silent
NFX1ENSG00000086102ENST00000318524p.R612Wc.1834C>TSubstitution - Missense
OR51L1ENSG00000176798ENST00000321543p.W88Rc.262T>CSubstitution - Missense
MCF2LENSG00000126217ENST00000423482p.?c.2056-10C>TUnknown
CDK5RAP2ENSG00000136861ENST00000349780p.A213Tc.637G>ASubstitution - Missense
DDX4ENSG00000152670ENST00000511853p.H132Rc.395A>GSubstitution - Missense
ENST00000314735p.P260Sc.778C>TSubstitution - Missense
CCHCR1ENSG00000204536ENST00000396268p.R700Qc.2099G>ASubstitution - Missense
RINLENSG00000187994ENST00000340740p.A402Pc.1204G>CSubstitution - Missense
FCHSD1ENSG00000197948ENST00000435817p.?c.1311+1G>AUnknown
SHROOM2ENSG00000146950ENST00000380913p.I56Vc.166A>GSubstitution - Missense
RANGAP1ENSG00000100401ENST00000356244p.V563Vc.1689G>TSubstitution - coding silent
THEMISENSG00000172673ENST00000543064p.Y489Fc.1466A>TSubstitution - Missense
SLC6A20ENSG00000163817ENST00000353278p.A536Ac.1608G>ASubstitution - coding silent
ZNF852ENSG00000178917ENST00000436261p.?c.142+10C>TUnknown
CASP8ENSG00000064012ENST00000358485p.V264Vc.792A>GSubstitution - coding silent
HNRNPA3ENSG00000170144ENST00000392524p.K57Ec.169A>GSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.D255Dc.765T>CSubstitution - coding silent
ENST00000357934p.A740Gc.2219C>GSubstitution - Missense
ZNF844ENSG00000223547ENST00000439326p.A233Ac.699C>TSubstitution - coding silent
NEFMENSG00000104722ENST00000221166p.V909Vc.2727A>GSubstitution - coding silent
ENST00000300671p.Q425Rc.1274A>GSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.S965Ic.2894G>TSubstitution - Missense
DPYDENSG00000188641ENST00000370192p.T768Kc.2303C>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.E129Qc.385G>CSubstitution - Missense
HAX1ENSG00000143575ENST00000328703p.D83Nc.247G>ASubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.F467Sc.1400T>CSubstitution - Missense
NOX4ENSG00000086991ENST00000263317p.L23Fc.67C>TSubstitution - Missense
TCF12ENSG00000140262ENST00000452095p.S564fs*11c.1687_1688insAInsertion - Frameshift
CUBNENSG00000107611ENST00000377833p.G26Vc.77G>TSubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.T324Ic.971C>TSubstitution - Missense
DCDC1ENSG00000170959ENST00000339794p.P439Pc.1317C>ASubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.Q1535Ec.4603C>GSubstitution - Missense
NR1I3ENSG00000143257ENST00000367981p.I158Tc.473T>CSubstitution - Missense
GABRA5ENSG00000186297ENST00000335625p.R255Mc.764G>TSubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.A264Ac.792C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.T2038Ic.6113C>TSubstitution - Missense
TIMELESSENSG00000111602ENST00000553532p.R697Rc.2091C>TSubstitution - coding silent
NEK5ENSG00000197168ENST00000355568p.E433Kc.1297G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.G455Cc.1363G>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.N1395fs*22c.4172_4173insATInsertion - Frameshift
SNX31ENSG00000174226ENST00000311812p.N125Ic.374A>TSubstitution - Missense
FYBENSG00000082074ENST00000512982p.A169Vc.506C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.R42Cc.124C>TSubstitution - Missense
PAF1ENSG00000006712ENST00000595564p.A104Vc.311C>TSubstitution - Missense
PTPN6ENSG00000111679ENST00000399448p.D421Gc.1262A>GSubstitution - Missense
FAM178AENSG00000119906ENST00000370269p.T2Pc.4A>CSubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.H141Hc.423C>TSubstitution - coding silent
VWA7ENSG00000204396ENST00000375688p.?c.1504-8C>TUnknown
FGFR4ENSG00000160867ENST00000292408p.L789Lc.2365T>CSubstitution - coding silent
ZNF222ENSG00000159885ENST00000391960p.V76Ac.227T>CSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.R2255Rc.6765G>ASubstitution - coding silent
PHLDB3ENSG00000176531ENST00000292140p.P260Sc.778C>TSubstitution - Missense
OR6B1ENSG00000221813ENST00000408922p.T280Ic.839C>TSubstitution - Missense
CEP57L1ENSG00000183137ENST00000359793p.H67Hc.201T>CSubstitution - coding silent
OTX1ENSG00000115507ENST00000282549p.P338Pc.1014C>TSubstitution - coding silent
ENST00000326929p.T6Sc.16A>TSubstitution - Missense
KDM5CENSG00000126012ENST00000452825p.R311Pc.932G>CSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.G1528Sc.4582G>ASubstitution - Missense
RGS11ENSG00000076344ENST00000397770p.?c.863+1G>AUnknown
RRP1ENSG00000160214ENST00000497547p.?c.274+4A>TUnknown
SND1ENSG00000197157ENST00000354725p.A197Gc.590C>GSubstitution - Missense
ZNF554ENSG00000172006ENST00000317243p.A268Tc.802G>ASubstitution - Missense
NUDT19ENSG00000213965ENST00000397061p.C219Rc.655T>CSubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.T1004Kc.3011C>ASubstitution - Missense
TBX21ENSG00000073861ENST00000177694p.P371Pc.1113C>TSubstitution - coding silent
TMEM57ENSG00000204178ENST00000374343p.R19Rc.57G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.K1189Tc.3566A>CSubstitution - Missense
GPR25ENSG00000170128ENST00000304244p.L169fs*40c.504_507delGCTGDeletion - Frameshift
AXDND1ENSG00000162779ENST00000367618p.E862Kc.2584G>ASubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.E598Gc.1793A>GSubstitution - Missense
B4GALT2ENSG00000117411ENST00000309519p.R202Gc.604C>GSubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.F4468Lc.13404C>ASubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.V1090Mc.3268G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R4038Ic.12113G>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.G3315Rc.9943G>CSubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.P333Pc.999A>GSubstitution - coding silent
SVILENSG00000197321ENST00000355867p.K1506Nc.4518G>TSubstitution - Missense
CHN2ENSG00000106069ENST00000222792p.?c.89-10T>CUnknown
ZNRF3ENSG00000183579ENST00000544604p.T811Ic.2432C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.?c.848+7A>GUnknown
MYRFENSG00000124920ENST00000278836p.?c.399-4G>AUnknown
WDR47ENSG00000085433ENST00000400794p.T2Mc.5C>TSubstitution - Missense
PLOD1ENSG00000083444ENST00000376369p.?c.1612-5C>TUnknown
HIGD2AENSG00000146066ENST00000274787p.V20Ac.59T>CSubstitution - Missense
DDX4ENSG00000152670ENST00000505374p.H281Rc.842A>GSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.G3954Rc.11860G>CSubstitution - Missense
CICENSG00000079432ENST00000160740p.N702Sc.2105A>GSubstitution - Missense
ARHGEF35ENSG00000213214ENST00000378115p.D476Ec.1428C>GSubstitution - Missense
FAM134BENSG00000154153ENST00000399793p.G290Sc.868G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.I2573Tc.7718T>CSubstitution - Missense
NTRK2ENSG00000148053ENST00000376214p.R42Gc.124C>GSubstitution - Missense
MPOENSG00000005381ENST00000340482p.T502Tc.1506G>CSubstitution - coding silent
CSPG5ENSG00000114646ENST00000264723p.I143Tc.428T>CSubstitution - Missense
ANKRD31ENSG00000145700ENST00000274361p.?c.1905+10T>CUnknown
STAG1ENSG00000118007ENST00000383202p.G544Gc.1632A>TSubstitution - coding silent
TPRA1ENSG00000163870ENST00000355552p.P354Lc.1061C>TSubstitution - Missense
PORENSG00000127948ENST00000450476p.G312Sc.934G>ASubstitution - Missense
SHPRHENSG00000146414ENST00000438092p.T288Tc.864G>ASubstitution - coding silent
NM_000670.3p.S134Ic.401G>TSubstitution - Missense
ADAM9ENSG00000168615ENST00000487273p.?c.1697+5G>AUnknown
TLR6ENSG00000174130ENST00000381950p.M59Tc.176T>CSubstitution - Missense
BBS2ENSG00000125124ENST00000245157p.R234Qc.701G>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.R325Hc.974G>ASubstitution - Missense
TMEM8BENSG00000137103ENST00000377988p.V284Gc.851T>GSubstitution - Missense
IVDENSG00000128928ENST00000487418p.G320Sc.958G>ASubstitution - Missense
KARSENSG00000065427ENST00000319410p.P603Pc.1809C>TSubstitution - coding silent
NEMFENSG00000165525ENST00000298310p.K809Ec.2425A>GSubstitution - Missense
DLATENSG00000150768ENST00000280346p.S98Yc.293C>ASubstitution - Missense
NM_024426.2p.P181Tc.541C>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.N1070Sc.3209A>GSubstitution - Missense
GPAMENSG00000119927ENST00000348367p.I655Tc.1964T>CSubstitution - Missense
ATRNL1ENSG00000107518ENST00000355044p.F1279Cc.3836T>GSubstitution - Missense
PARPBPENSG00000185480ENST00000358383p.S137Sc.411T>CSubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.A393Ac.1179C>TSubstitution - coding silent
SPRTNENSG00000010072ENST00000295050p.G181Rc.541G>CSubstitution - Missense
FRRS1ENSG00000156869ENST00000287474p.H341Qc.1023C>GSubstitution - Missense
XM_372267.3p.D31Hc.91G>CSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.R1319Qc.3956G>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.R1319Qc.3956G>ASubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.R1469Hc.4406G>ASubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.T196Mc.587C>TSubstitution - Missense
CGP_EPHA10.1p.R150Hc.449G>ASubstitution - Missense
FAM198BENSG00000164125ENST00000296530p.S437Ic.1310G>TSubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.R543Pc.1628G>CSubstitution - Missense
HNF4AENSG00000101076ENST00000443598p.R312Hc.935G>ASubstitution - Missense
FAM131BENSG00000159784ENST00000443739p.G189Gc.567C>TSubstitution - coding silent
LARP1ENSG00000155506ENST00000336314p.R265Qc.794G>ASubstitution - Missense
C7orf57ENSG00000164746ENST00000348904p.A266Tc.796G>ASubstitution - Missense
XM_372267.3p.G30Gc.90G>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000376634p.P974Pc.2922C>TSubstitution - coding silent
NEDD9ENSG00000111859ENST00000379446p.A821Vc.2462C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.D740Ec.2220T>ASubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.R929Hc.2786G>ASubstitution - Missense
MAPK12ENSG00000188130ENST00000215659p.S229Sc.687C>TSubstitution - coding silent
TRIM56ENSG00000169871ENST00000306085p.A557Tc.1669G>ASubstitution - Missense
MAMSTRENSG00000176909ENST00000356751p.R303Wc.907C>TSubstitution - Missense
ENST00000358511_v70p.E1996Kc.5986G>ASubstitution - Missense
PLGENSG00000122194ENST00000308192p.E54Kc.160G>ASubstitution - Missense
HOXA1ENSG00000105991ENST00000343060p.H72_R73insHc.191_192insCCAInsertion - In frame
NRIP1ENSG00000180530ENST00000400199p.N50Dc.148A>GSubstitution - Missense
CCDC157ENSG00000187860ENST00000405659p.A2Vc.5C>TSubstitution - Missense
BAP1ENSG00000163930ENST00000460680p.I263Mc.789A>GSubstitution - Missense
C2CD2ENSG00000157617ENST00000380486p.R663Rc.1987C>ASubstitution - coding silent
RALGAPBENSG00000170471ENST00000397040p.I176Mc.528A>GSubstitution - Missense
POT1ENSG00000128513ENST00000357628p.?c.546+1G>AUnknown
CT47B1ENSG00000236446ENST00000371311p.M45Vc.133A>GSubstitution - Missense
TERF2IPENSG00000166848ENST00000300086p.Y184Cc.551A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.P298Pc.894C>TSubstitution - coding silent
ENST00000322367p.T1156Tc.3468G>ASubstitution - coding silent
B4GALT2ENSG00000117411ENST00000356836p.R173Pc.518G>CSubstitution - Missense
SLC22A25ENSG00000196600ENST00000306494p.L515Rc.1544T>GSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.Q1528Ec.4582C>GSubstitution - Missense
LRRC27ENSG00000148814ENST00000392638p.A105Vc.314C>TSubstitution - Missense
PLXNC1ENSG00000136040ENST00000258526p.F105fs*34c.311_323del13Deletion - Frameshift
OR51F1ENSG00000188069ENST00000343430p.P60Pc.180C>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.R4137Ic.12410G>TSubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.D512Gc.1535A>GSubstitution - Missense
SPINK5ENSG00000133710ENST00000359874p.R241Lc.722G>TSubstitution - Missense
TJAP1ENSG00000137221ENST00000372445p.R527Rc.1581C>TSubstitution - coding silent
DUOX1ENSG00000137857ENST00000561166p.R392Rc.1176G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000434480p.?c.2080-10C>TUnknown
DDX59ENSG00000118197ENST00000367348p.I467Sc.1400T>GSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000236925p.T711Tc.2133C>TSubstitution - coding silent
NM_002467.2p.T8_N9delTNc.21_26delCACCAADeletion - In frame
ENPP5ENSG00000112796ENST00000371383p.?c.1007-4A>CUnknown
IL6STENSG00000134352ENST00000381298p.G308Ec.923G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
ENST00000334328p.T36Sc.107C>GSubstitution - Missense
NM_021874.2p.R564Pc.1691G>CSubstitution - Missense
ENST00000377643p.R342Qc.1025G>ASubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.G221Rc.661G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.P974Pc.2922C>TSubstitution - coding silent
PHF3ENSG00000118482ENST00000262043p.K159Rc.476A>GSubstitution - Missense
SYBUENSG00000147642ENST00000399066p.M204Vc.610A>GSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.P405Ac.1213C>GSubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.D740Ec.2220T>ASubstitution - Missense
IL12RB1ENSG00000096996ENST00000322153p.P228Pc.684C>GSubstitution - coding silent
NOXA1ENSG00000188747ENST00000341349p.A463Tc.1387G>ASubstitution - Missense
ENST00000451531_v68p.W786Sc.2357G>CSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.T3083Nc.9248C>ASubstitution - Missense
ZRSR1ENSG00000212643ENST00000391338p.Q438Hc.1314G>CSubstitution - Missense
CASKENSG00000147044ENST00000378166p.M687Ic.2061G>ASubstitution - Missense
NPBWR2ENSG00000125522ENST00000369768p.R324Wc.970C>TSubstitution - Missense
DNASE1ENSG00000213918ENST00000246949p.R133fs*47c.372_373ins25Insertion - Frameshift
TLK1ENSG00000198586ENST00000431350p.N591Nc.1773C>TSubstitution - coding silent
BHLHE40ENSG00000134107ENST00000256495p.R45Rc.133C>ASubstitution - coding silent
MTMR7ENSG00000003987ENST00000180173p.A655Vc.1964C>TSubstitution - Missense
ENST00000356067p.A704Gc.2111C>GSubstitution - Missense
POT1ENSG00000128513ENST00000357628p.?c.546+1G>AUnknown
APOBENSG00000084674ENST00000233242p.E4450Ac.13349A>CSubstitution - Missense
ENST00000344648p.M480Kc.1439T>ASubstitution - Missense
IL7RENSG00000168685ENST00000303115p.A168Tc.502G>ASubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.M579Tc.1736T>CSubstitution - Missense
CERS3ENSG00000154227ENST00000284382p.H211Rc.632A>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.L13Lc.39G>ASubstitution - coding silent
OR2L3ENSG00000198128ENST00000359959p.C178Fc.533G>TSubstitution - Missense
FAM129AENSG00000135842ENST00000367511p.F619Cc.1856T>GSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.C784Yc.2351G>ASubstitution - Missense
SLC15A3ENSG00000110446ENST00000227880p.T369Mc.1106C>TSubstitution - Missense
RNASE9ENSG00000188655ENST00000338904p.H180Rc.539A>GSubstitution - Missense
FAM196AENSG00000188916ENST00000522781p.R290Gc.868A>GSubstitution - Missense
SC5DENSG00000109929ENST00000392789p.S267Rc.801T>GSubstitution - Missense
SRGAP2ENSG00000163486ENST00000414007p.?c.1759+4C>TUnknown
PCDHA1ENSG00000204970ENST00000504120p.V508Mc.1522G>ASubstitution - Missense
KIAA0368ENSG00000136813ENST00000338205p.V676Vc.2028G>ASubstitution - coding silent
CNKSR2ENSG00000149970ENST00000279451p.V749Vc.2247A>GSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.F1361Lc.4083C>ASubstitution - Missense
ENST00000316490p.?c.12149-1G>TUnknown
PTPRSENSG00000105426ENST00000372412p.L318Lc.954G>CSubstitution - coding silent
SYTL1ENSG00000142765ENST00000543823p.E366Kc.1096G>ASubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.T1023Tc.3069T>ASubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.P2114Pc.6342G>ASubstitution - coding silent
NM_007181p.?c.665+10C>TUnknown
XM_036729.3p.?c.937-8C>GUnknown
WFS1ENSG00000109501ENST00000226760p.E752Vc.2255A>TSubstitution - Missense
SRSF7ENSG00000115875ENST00000313117p.?c.386+7A>GUnknown
TRIM37ENSG00000108395ENST00000262294p.L875Lc.2623T>CSubstitution - coding silent
ENST00000274361_v65p.?c.1905+10T>CUnknown
NUCB1ENSG00000104805ENST00000263273p.P412Lc.1235C>TSubstitution - Missense
NME9ENSG00000181322ENST00000317876p.A149Dc.446C>ASubstitution - Missense
ADD2ENSG00000075340ENST00000355733p.Q421Pc.1262A>CSubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.T1368Nc.4103C>ASubstitution - Missense
LARGEENSG00000133424ENST00000397394p.L304Lc.912G>TSubstitution - coding silent
MBOAT7ENSG00000125505ENST00000245615p.Y333Yc.999C>TSubstitution - coding silent
TRAF3IP1ENSG00000204104ENST00000373327p.R347Rc.1041G>ASubstitution - coding silent
TONSLENSG00000160949ENST00000409379p.E1002Kc.3004G>ASubstitution - Missense
C20orf96ENSG00000196476ENST00000360321p.G108Rc.322G>ASubstitution - Missense
ZNF500ENSG00000103199ENST00000219478p.D247Ec.741C>GSubstitution - Missense
DPY19L4ENSG00000156162ENST00000414645p.Q402Rc.1205A>GSubstitution - Missense
BPTFENSG00000171634ENST00000306378p.T1677Tc.5031T>GSubstitution - coding silent
CCDC78ENSG00000162004ENST00000293889p.?c.766-9C>TUnknown
XM_031689.7p.R291Wc.871C>TSubstitution - Missense
ENST00000338282p.P82Hc.245C>ASubstitution - Missense
TTLL13ENSG00000213471ENST00000438251p.?c.1167+1G>AUnknown
NR1I3ENSG00000143257ENST00000367983p.I187Tc.560T>CSubstitution - Missense
BEST1ENSG00000167995ENST00000449131p.L560Pc.1679T>CSubstitution - Missense
TMTC4ENSG00000125247ENST00000342624p.L227Lc.679C>TSubstitution - coding silent
RSF1ENSG00000048649ENST00000308488p.R1299Wc.3895C>TSubstitution - Missense
ENST00000349637p.V3830Ac.11489T>CSubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.R117*c.349C>TSubstitution - Nonsense
SRGAP2ENSG00000163486ENST00000295713p.?c.1919+4C>TUnknown
AKAP11ENSG00000023516ENST00000025301p.R1110Qc.3329G>ASubstitution - Missense
ENST00000224764p.L369Lc.1107C>ASubstitution - coding silent
IFIT5ENSG00000152778ENST00000371795p.E368Gc.1103A>GSubstitution - Missense
NOC3LENSG00000173145ENST00000371361p.E468Dc.1404A>CSubstitution - Missense
DOCK9ENSG00000088387ENST00000448493p.V1207Mc.3619G>ASubstitution - Missense
NUP93ENSG00000102900ENST00000308159p.L435Lc.1305C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.T5335Mc.16004C>TSubstitution - Missense
CHN2ENSG00000106069ENST00000539406p.?c.314-10T>CUnknown
XPO7ENSG00000130227ENST00000433566p.Q1061Rc.3182A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.C4504Fc.13511G>TSubstitution - Missense
OR8K5ENSG00000181752ENST00000313447p.G253Rc.757G>CSubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.E492Kc.1474G>ASubstitution - Missense
ENST00000266505_v70p.I66Nc.197T>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.P2114Pc.6342G>ASubstitution - coding silent
FAM129BENSG00000136830ENST00000373314p.N61Sc.182A>GSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.A510Ac.1530T>GSubstitution - coding silent
AIF1ENSG00000204472ENST00000376059p.E56Dc.168G>TSubstitution - Missense
TLE4ENSG00000106829ENST00000376520p.?c.253-2A>TUnknown
RSPO3ENSG00000146374ENST00000368317p.N36Nc.108C>TSubstitution - coding silent
COL28A1ENSG00000215018ENST00000399429p.P723Lc.2168C>TSubstitution - Missense
MAMSTRENSG00000176909ENST00000318083p.R406Wc.1216C>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.E400Vc.1199A>TSubstitution - Missense
CHPFENSG00000123989ENST00000243776p.T621Tc.1863G>ASubstitution - coding silent
TIAM2ENSG00000146426ENST00000318981p.S1312Sc.3936C>TSubstitution - coding silent
ZNF418ENSG00000196724ENST00000396147p.G88Gc.264C>TSubstitution - coding silent
SCN10AENSG00000185313ENST00000449082p.?c.270+5G>AUnknown
YTHDF1ENSG00000149658ENST00000370339p.I523Ic.1569C>TSubstitution - coding silent
ENST00000329373p.E291Kc.871G>ASubstitution - Missense


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