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SW 1271 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

2058 mutations reported
630 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
AHI1ENSG00000135541ENST00000367800p.K34fs*23c.101delADeletion - Frameshift
SOX2ENSG00000181449ENST00000431565p.D92Vc.275A>TSubstitution - Missense
CYP2A13ENSG00000197838ENST00000330436p.E147Vc.440A>TSubstitution - Missense
GABRG2ENSG00000113327ENST00000356592p.D370fs*30c.1105delADeletion - Frameshift
HLA-CENSG00000204525ENST00000376228p.T187Kc.560C>ASubstitution - Missense
RC3H2ENSG00000056586ENST00000423239p.D780Nc.2338G>ASubstitution - Missense
LCP2ENSG00000043462ENST00000046794p.?c.798+7T>AUnknown
DDX60LENSG00000181381ENST00000260184p.V1098Vc.3294T>ASubstitution - coding silent
RIMBP2ENSG00000060709ENST00000536002p.A445Pc.1333G>CSubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.P524Pc.1572C>ASubstitution - coding silent
KIAA1715ENSG00000144320ENST00000544803p.P402Tc.1204C>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.V1950Lc.5848G>TSubstitution - Missense
MIPOL1ENSG00000151338ENST00000545536p.K316Nc.948A>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.A2419Sc.7255G>TSubstitution - Missense
SLC4A2ENSG00000164889ENST00000485713p.G792Vc.2375G>TSubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.S618Gc.1852A>GSubstitution - Missense
CYP4F22ENSG00000171954ENST00000269703p.R243Lc.728G>TSubstitution - Missense
DBNDD2ENSG00000244274ENST00000372720p.R56Sc.168G>TSubstitution - Missense
TMEM71ENSG00000165071ENST00000377901p.A174Sc.520G>TSubstitution - Missense
TOR1BENSG00000136816ENST00000259339p.R332Wc.994C>TSubstitution - Missense
ENST00000326876p.K295Ec.883A>GSubstitution - Missense
OR52A5ENSG00000171944ENST00000307388p.T71Ac.211A>GSubstitution - Missense
EML5ENSG00000165521ENST00000352093p.?c.1187+5G>TUnknown
MCTP2ENSG00000140563ENST00000331706p.E18Ec.54A>GSubstitution - coding silent
HDLBPENSG00000115677ENST00000427183p.G714fs*27c.2141delGDeletion - Frameshift
ENST00000328843_v70p.A3750Ec.11249C>ASubstitution - Missense
GRM3ENSG00000198822ENST00000394720p.L158Lc.474G>ASubstitution - coding silent
SARDHENSG00000123453ENST00000371867p.?c.244-5C>GUnknown
TENM1ENSG00000009694ENST00000422452p.L1989Vc.5965C>GSubstitution - Missense
MAPKAPK2ENSG00000162889ENST00000367103p.?c.485-10C>TUnknown
ANKRD30AENSG00000148513ENST00000602533p.A261Tc.781G>ASubstitution - Missense
AMBRA1ENSG00000110497ENST00000458649p.E1264Gc.3791A>GSubstitution - Missense
SUCLA2ENSG00000136143ENST00000378654p.F228Ic.682T>ASubstitution - Missense
NM_014903.3p.Y1363*c.4089C>ASubstitution - Nonsense
GLYATL2ENSG00000156689ENST00000287275p.Q107Lc.320A>TSubstitution - Missense
SLC7A7ENSG00000155465ENST00000397528p.G61fs*109c.182delGDeletion - Frameshift
AHNAK2ENSG00000185567ENST00000333244p.S4713Yc.14138C>ASubstitution - Missense
KRT6BENSG00000185479ENST00000252252p.?c.1077+8C>AUnknown
UTP20ENSG00000120800ENST00000261637p.T2505Ac.7513A>GSubstitution - Missense
ENST00000538912p.P64Hc.191C>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.P1096Qc.3287C>ASubstitution - Missense
PAN3ENSG00000152520ENST00000282391p.?c.1449-7C>TUnknown
HMGCS2ENSG00000134240ENST00000369406p.P223Tc.667C>ASubstitution - Missense
SLC22A25ENSG00000196600ENST00000306494p.I488Nc.1463T>ASubstitution - Missense
ILDR2ENSG00000143195ENST00000271417p.C229Wc.687C>GSubstitution - Missense
ADAM20ENSG00000134007ENST00000256389p.V284Vc.852A>GSubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.T417Tc.1251C>ASubstitution - coding silent
BUB1BENSG00000156970ENST00000287598p.S384Gc.1150A>GSubstitution - Missense
FYBENSG00000082074ENST00000505428p.I118Ic.354C>ASubstitution - coding silent
C5orf42ENSG00000197603ENST00000274258p.A1968Pc.5902G>CSubstitution - Missense
TSHRENSG00000165409ENST00000541158p.?c.545+7A>GUnknown
ENST00000331986p.T1784Tc.5352A>TSubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.G919*c.2755G>TSubstitution - Nonsense
OTORENSG00000125879ENST00000246081p.G90Vc.269G>TSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.K618Kc.1854G>ASubstitution - coding silent
NUTM2GENSG00000188152ENST00000372322p.G403Rc.1207G>ASubstitution - Missense
UNKENSG00000132478ENST00000293218p.?c.1372-1G>TUnknown
ASPSCR1ENSG00000169696ENST00000306729p.Q55Pc.164A>CSubstitution - Missense
CNNM4ENSG00000158158ENST00000377075p.G177Gc.531G>ASubstitution - coding silent
PGM2ENSG00000169299ENST00000381967p.V592Lc.1774G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R15761Rc.47281A>CSubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.G41Wc.121G>TSubstitution - Missense
NM_173357.2p.P127Pc.381A>TSubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.G430Rc.1288G>CSubstitution - Missense
RPL14ENSG00000188846ENST00000396203p.?c.354+6A>GUnknown
SYNE1ENSG00000131018ENST00000423061p.D1487Dc.4461C>TSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.A1527Tc.4579G>ASubstitution - Missense
CTAG2ENSG00000126890ENST00000247306p.G9Gc.27G>ASubstitution - coding silent
PIGAENSG00000165195ENST00000333590p.Y91Yc.273C>TSubstitution - coding silent
CLSTN2ENSG00000158258ENST00000458420p.V841Vc.2523G>TSubstitution - coding silent
MUC3AENSG00000169894ENST00000319509p.V583Lc.1747G>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.A571Ac.1713C>ASubstitution - coding silent
DENND6BENSG00000205593ENST00000413817p.?c.1073-2A>TUnknown
FREM1ENSG00000164946ENST00000422223p.I1973Lc.5917A>CSubstitution - Missense
ARHGEF9ENSG00000131089ENST00000253401p.S509Ic.1526G>TSubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.D1391Vc.4172A>TSubstitution - Missense
SOGA3ENSG00000214338ENST00000368268p.R374Gc.1120A>GSubstitution - Missense
FCN1ENSG00000085265ENST00000371806p.A244Ac.732G>ASubstitution - coding silent
ENST00000356127p.Y22216fs*5c.66646delTDeletion - Frameshift
ANKRD30BENSG00000180777ENST00000358984p.D636Ec.1908C>ASubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.?c.1159-10C>TUnknown
SSC5DENSG00000179954ENST00000389623p.A235Dc.704C>ASubstitution - Missense
MMRN1ENSG00000138722ENST00000394980p.S185Ic.554G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S1879Fc.5636C>TSubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.G541Cc.1621G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G3052Dc.9155G>ASubstitution - Missense
ENST00000326929p.A17Ac.51G>TSubstitution - coding silent
ADCY2ENSG00000078295ENST00000338316p.?c.2999-3C>AUnknown
CCDC12ENSG00000160799ENST00000292314p.V120Vc.360G>TSubstitution - coding silent
GRIK2ENSG00000164418ENST00000421544p.Q339Kc.1015C>ASubstitution - Missense
KRT17ENSG00000128422ENST00000311208p.A271Ac.813C>GSubstitution - coding silent
GABREENSG00000102287ENST00000370328p.?c.564-4C>TUnknown
PCDHA4ENSG00000204967ENST00000530339p.A160Gc.479C>GSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.R1154Lc.3461G>TSubstitution - Missense
OR2F2ENSG00000221910ENST00000408955p.A197Pc.589G>CSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.N981Ic.2942A>TSubstitution - Missense
C7orf72ENSG00000164500ENST00000297001p.S317Sc.951T>CSubstitution - coding silent
SAGE1ENSG00000181433ENST00000324447p.H387Qc.1161T>GSubstitution - Missense
GALNTL6ENSG00000174473ENST00000506823p.?c.138+8C>AUnknown
TPM4ENSG00000167460ENST00000344824p.A22Ec.65C>ASubstitution - Missense
RC3H2ENSG00000056586ENST00000373670p.D780Nc.2338G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.E1222*c.3664G>TSubstitution - Nonsense
PLB1ENSG00000163803ENST00000329020p.D447Nc.1339G>ASubstitution - Missense
MED23ENSG00000112282ENST00000403834p.D974Yc.2920G>TSubstitution - Missense
NPR3ENSG00000113389ENST00000415685p.?c.548-6C>GUnknown
ZNF407ENSG00000215421ENST00000577538p.P44Rc.131C>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.C277Fc.830G>TSubstitution - Missense
NRASENSG00000213281ENST00000369535p.Q61Rc.182A>GSubstitution - Missense
GRB10ENSG00000106070ENST00000403097p.C284Cc.852T>CSubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.?c.4069-1G>TUnknown
PANX3ENSG00000154143ENST00000284288p.R36Rc.108G>TSubstitution - coding silent
GPAMENSG00000119927ENST00000348367p.?c.413+6G>CUnknown
RPS6KB2ENSG00000175634ENST00000312629p.D261Ec.783C>ASubstitution - Missense
NEDD1ENSG00000139350ENST00000266742p.E542Ec.1626A>GSubstitution - coding silent
GANABENSG00000089597ENST00000346178p.K354fs*7c.1059delGDeletion - Frameshift
NM_005539.2p.G211Cc.631G>TSubstitution - Missense
ANO6ENSG00000177119ENST00000320560p.Y476Cc.1427A>GSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.L430Lc.1288C>TSubstitution - coding silent
KBTBD3ENSG00000182359ENST00000526793p.S204fs*3c.609_610insTInsertion - Frameshift
FAM92BENSG00000153789ENST00000539556p.L248Fc.742C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T7114Ac.21340A>GSubstitution - Missense
SIX6ENSG00000184302ENST00000327720p.P222Tc.664C>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.C511*c.1533T>ASubstitution - Nonsense
ZNF490ENSG00000188033ENST00000311437p.R210Lc.629G>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.E3359*c.10075G>TSubstitution - Nonsense
HIST1H4GENSG00000124578ENST00000244537p.G12Vc.35G>TSubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.Y649Fc.1946A>TSubstitution - Missense
SLC14A1ENSG00000141469ENST00000321925p.L109Fc.327G>TSubstitution - Missense
PIGNENSG00000197563ENST00000357637p.E649Qc.1945G>CSubstitution - Missense
ABHD16BENSG00000183260ENST00000369916p.R142Rc.426C>ASubstitution - coding silent
ITGADENSG00000156886ENST00000389202p.G776Wc.2326G>TSubstitution - Missense
EPHA6ENSG00000080224ENST00000502694p.?c.563-6T>AUnknown
MUC12ENSG00000205277ENST00000536621p.S386Sc.1158A>CSubstitution - coding silent
TTC39BENSG00000155158ENST00000512701p.L145*c.434T>GSubstitution - Nonsense
FBXO40ENSG00000163833ENST00000338040p.G441Ac.1322G>CSubstitution - Missense
IGSF11ENSG00000144847ENST00000393775p.Q193*c.577C>TSubstitution - Nonsense
BAZ1BENSG00000009954ENST00000339594p.D609Nc.1825G>ASubstitution - Missense
NFIBENSG00000147862ENST00000397581p.T451Rc.1352C>GSubstitution - Missense
TRDNENSG00000186439ENST00000398178p.V422Vc.1266A>GSubstitution - coding silent
TRPM6ENSG00000119121ENST00000360774p.E1408*c.4222G>TSubstitution - Nonsense
TRPV1ENSG00000196689ENST00000174621p.S379Sc.1137G>TSubstitution - coding silent
EYA4ENSG00000112319ENST00000367895p.W477Gc.1429T>GSubstitution - Missense
SLC52A2ENSG00000185803ENST00000329994p.W31Cc.93G>TSubstitution - Missense
OSBPL6ENSG00000079156ENST00000190611p.S616Wc.1847C>GSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.I302Ic.906C>ASubstitution - coding silent
ZDHHC8ENSG00000099904ENST00000334554p.S391Nc.1172G>ASubstitution - Missense
ZNF667ENSG00000198046ENST00000292069p.N101Sc.302A>GSubstitution - Missense
GAKENSG00000178950ENST00000314167p.D713Hc.2137G>CSubstitution - Missense
MAPK10ENSG00000109339ENST00000449047p.E280*c.838G>TSubstitution - Nonsense
ENST00000405167p.G3052Dc.9155G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.G678Rc.2032G>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000187397p.*813*c.2438G>ASubstitution - coding silent
GRM3ENSG00000198822ENST00000361669p.L160Lc.480G>ASubstitution - coding silent
NM_001001671.1p.A103Vc.308C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.D1480Dc.4440C>TSubstitution - coding silent
MAML3ENSG00000196782ENST00000509479p.?c.2080-4C>AUnknown
KCNK17ENSG00000124780ENST00000373231p.N121Sc.362A>GSubstitution - Missense
ENST00000357909p.H561Pc.1682A>CSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.W379Lc.1136G>TSubstitution - Missense
FAAH2ENSG00000165591ENST00000374900p.?c.1228+1G>CUnknown
WDR52ENSG00000206530ENST00000295868p.A529Ac.1587A>CSubstitution - coding silent
CC2D2AENSG00000048342ENST00000424120p.P1449fs*7c.4345_4346insAInsertion - Frameshift
TRPS1ENSG00000104447ENST00000395715p.L826fs*2c.2475delGDeletion - Frameshift
FBN2ENSG00000138829ENST00000508053p.G2375Cc.7123G>TSubstitution - Missense
LPOENSG00000167419ENST00000262290p.V587Lc.1759G>CSubstitution - Missense
NM_133638.1p.C466Yc.1397G>ASubstitution - Missense
ENST00000319379p.G1776Rc.5326G>ASubstitution - Missense
ITGB8ENSG00000105855ENST00000222573p.R604Gc.1810A>GSubstitution - Missense
FBXL7ENSG00000183580ENST00000504595p.W149Cc.447G>TSubstitution - Missense
PTCHD4ENSG00000244694ENST00000339488p.P517Tc.1549C>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.E3976Dc.11928G>TSubstitution - Missense
WDR46ENSG00000227057ENST00000374617p.H589Yc.1765C>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374177p.?c.530-7C>TUnknown
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
FETUBENSG00000090512ENST00000265029p.C224Fc.671G>TSubstitution - Missense
PTCHD2ENSG00000204624ENST00000389575p.R637Lc.1910G>TSubstitution - Missense
TOP3BENSG00000100038ENST00000413067p.E194*c.580G>TSubstitution - Nonsense
DIDO1ENSG00000101191ENST00000395335p.A649Sc.1945G>TSubstitution - Missense
EYA1ENSG00000104313ENST00000388740p.P60Tc.178C>ASubstitution - Missense
CD5ENSG00000110448ENST00000347785p.L204Lc.612C>ASubstitution - coding silent
DACH1ENSG00000165659ENST00000359684p.R405fs*32c.1213delCDeletion - Frameshift
MTRENSG00000116984ENST00000366577p.?c.2775+5G>TUnknown
CAPN9ENSG00000135773ENST00000354537p.V144Lc.430G>CSubstitution - Missense
MS4A1ENSG00000156738ENST00000389939p.T250Tc.750T>ASubstitution - coding silent
ADAMTS15ENSG00000166106ENST00000299164p.?c.958-1G>TUnknown
TTC23ENSG00000103852ENST00000394132p.R225Sc.673C>ASubstitution - Missense
LRRC28ENSG00000168904ENST00000301981p.A235Sc.703G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.I1373Tc.4118T>CSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.R80Cc.238C>TSubstitution - Missense
LEPRENSG00000116678ENST00000349533p.D947Nc.2839G>ASubstitution - Missense
MYCBPAPENSG00000136449ENST00000323776p.K909*c.2725A>TSubstitution - Nonsense
MZF1ENSG00000099326ENST00000215057p.L24Lc.72A>GSubstitution - coding silent
ENST00000356127p.R494Sc.1482A>CSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.?c.1062-2A>TUnknown
ADAM33ENSG00000149451ENST00000356518p.S493Yc.1478C>ASubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.W781Cc.2343G>CSubstitution - Missense
PRICKLE2ENSG00000163637ENST00000295902p.D743Yc.2227G>TSubstitution - Missense
TSR1ENSG00000167721ENST00000301364p.Q74Qc.222G>ASubstitution - coding silent
SEBOX,VTNENSG00000109072ENST00000226218p.A124Ec.371C>ASubstitution - Missense
TNS4ENSG00000131746ENST00000254051p.P392Tc.1174C>ASubstitution - Missense
PIGPENSG00000185808ENST00000464265p.A89Sc.265G>TSubstitution - Missense
SMR3AENSG00000109208ENST00000226460p.S79Sc.237C>ASubstitution - coding silent
MMP2ENSG00000087245ENST00000219070p.E404Gc.1211A>GSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.G541Gc.1623T>ASubstitution - coding silent
TRAM1ENSG00000067167ENST00000262213p.?c.427-9C>TUnknown
USP19ENSG00000172046ENST00000434032p.D286Ac.857A>CSubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.G687Gc.2061C>ASubstitution - coding silent
FAM193AENSG00000125386ENST00000382839p.P578Ac.1732C>GSubstitution - Missense
NAT8LENSG00000185818ENST00000423729p.R230Lc.689G>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000318991p.D386Dc.1158T>CSubstitution - coding silent
GRIK2ENSG00000164418ENST00000369138p.P667fs*8c.1997delCDeletion - Frameshift
TNFAIP8ENSG00000145779ENST00000504771p.S47Tc.140G>CSubstitution - Missense
OR10C1ENSG00000206474ENST00000444197p.L134Lc.400C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000436393p.L900Mc.2698C>ASubstitution - Missense
ENST00000275579p.C79Fc.236G>TSubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.G203Rc.607G>ASubstitution - Missense
LNX1ENSG00000072201ENST00000263925p.L290Lc.870G>TSubstitution - coding silent
ENST00000304105p.K234fs*28c.696_697insGInsertion - Frameshift
SLC44A4ENSG00000204385ENST00000229729p.V158Lc.472G>TSubstitution - Missense
HSPB3ENSG00000169271ENST00000302005p.D44Yc.130G>TSubstitution - Missense
GRIP1ENSG00000155974ENST00000359742p.E940*c.2818G>TSubstitution - Nonsense
OR5L1ENSG00000186117ENST00000333973p.A231Ac.693A>CSubstitution - coding silent
CYP2C8ENSG00000138115ENST00000539050p.?c.223+3G>TUnknown
PMFBP1ENSG00000118557ENST00000355636p.N277Kc.831C>ASubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.A450fs*47c.1347delGDeletion - Frameshift
MUC12ENSG00000205277ENST00000379442p.S529Sc.1587A>CSubstitution - coding silent
TTC39BENSG00000155158ENST00000380850p.L145*c.434T>GSubstitution - Nonsense
RIMS2ENSG00000176406ENST00000406091p.R395Ic.1184G>TSubstitution - Missense
CDCA2ENSG00000184661ENST00000330560p.R891*c.2671C>TSubstitution - Nonsense
OR4K5ENSG00000176281ENST00000315915p.T108Ic.323C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.R1606Rc.4818T>CSubstitution - coding silent
SLC28A1ENSG00000156222ENST00000537624p.A444Sc.1330G>TSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.C933*c.2799T>ASubstitution - Nonsense
PZPENSG00000126838ENST00000261336p.S938Yc.2813C>ASubstitution - Missense
OR56B4ENSG00000180919ENST00000316529p.I198Nc.593T>ASubstitution - Missense
ENST00000432996p.G931Cc.2791G>TSubstitution - Missense
MS4A1ENSG00000156738ENST00000389939p.P160Tc.478C>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.Q343Qc.1029G>ASubstitution - coding silent
MRE11AENSG00000020922ENST00000323977p.D468Hc.1402G>CSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.P639Ac.1915C>GSubstitution - Missense
DPTENSG00000143196ENST00000367817p.N42Kc.126C>ASubstitution - Missense
TMOD4ENSG00000163157ENST00000295314p.R327Gc.979C>GSubstitution - Missense
SLC39A9ENSG00000029364ENST00000336643p.H129Yc.385C>TSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.P178Sc.532C>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.G2791Rc.8371G>CSubstitution - Missense
AMICA1ENSG00000160593ENST00000292067p.N11Tc.32A>CSubstitution - Missense
RBM25ENSG00000119707ENST00000261973p.E242Dc.726G>TSubstitution - Missense
MIPOL1ENSG00000151338ENST00000327441p.K347Nc.1041A>TSubstitution - Missense
KRTCAP2ENSG00000163463ENST00000295682p.E100*c.298G>TSubstitution - Nonsense
FLGENSG00000143631ENST00000368799p.S1770Nc.5309G>ASubstitution - Missense
OR2C3ENSG00000196242ENST00000366487p.A223Ac.669C>ASubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.?c.9461+8A>TUnknown
DLG2ENSG00000150672ENST00000376104p.R287Gc.859C>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.S1311Ic.3932G>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.V827Ac.2480T>CSubstitution - Missense
NKX2-2ENSG00000125820ENST00000377142p.A186Ac.558C>ASubstitution - coding silent
SNTG1ENSG00000147481ENST00000518864p.?c.322-1G>CUnknown
TTNENSG00000155657ENST00000342175p.R494Sc.1482A>CSubstitution - Missense
HOXB9ENSG00000170689ENST00000311177p.Q247Kc.739C>ASubstitution - Missense
ENST00000344237p.T898Tc.2694G>TSubstitution - coding silent
NFATC2ENSG00000101096ENST00000396009p.Q805Hc.2415G>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.C611*c.1833T>ASubstitution - Nonsense
RHPN2ENSG00000131941ENST00000254260p.M282Kc.845T>ASubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.C231Fc.692G>TSubstitution - Missense
ATRNENSG00000088812ENST00000262919p.I1382Ic.4146C>ASubstitution - coding silent
CCDC151ENSG00000198003ENST00000356392p.R376Rc.1128G>TSubstitution - coding silent
SYT4ENSG00000132872ENST00000255224p.H420Qc.1260C>ASubstitution - Missense
RUNX1T1ENSG00000079102ENST00000436581p.?c.1110+6A>GUnknown
ALG1ENSG00000033011ENST00000262374p.R232Lc.695G>TSubstitution - Missense
CYP51A1ENSG00000001630ENST00000003100p.E96*c.286G>TSubstitution - Nonsense
FBN2ENSG00000138829ENST00000508053p.G1706Gc.5118G>TSubstitution - coding silent
GRIA2ENSG00000120251ENST00000296526p.S115Rc.345C>ASubstitution - Missense
EYA4ENSG00000112319ENST00000367895p.T204Tc.612A>TSubstitution - coding silent
THEMISENSG00000172673ENST00000368248p.S32Sc.96T>ASubstitution - coding silent
DMRT1ENSG00000137090ENST00000382276p.P156Qc.467C>ASubstitution - Missense
SEPT14ENSG00000154997ENST00000388975p.C290Fc.869G>TSubstitution - Missense
MAGEC3ENSG00000165509ENST00000298296p.V214Vc.642C>TSubstitution - coding silent
GABBR1ENSG00000204681ENST00000377034p.?c.1567-3C>AUnknown
UQCRC2ENSG00000140740ENST00000268379p.A27Ac.81G>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.D215Nc.643G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.?c.1718+1G>TUnknown
SPTAN1ENSG00000197694ENST00000372739p.R1770Cc.5308C>TSubstitution - Missense
LIMK1ENSG00000106683ENST00000538333p.L228Lc.684G>TSubstitution - coding silent
TRPM6ENSG00000119121ENST00000449912p.E1403*c.4207G>TSubstitution - Nonsense
CCL17ENSG00000102970ENST00000219244p.R31Qc.92G>ASubstitution - Missense
ATP2B1ENSG00000070961ENST00000359142p.L369Lc.1107G>TSubstitution - coding silent
CADM3ENSG00000162706ENST00000368124p.?c.793+1G>TUnknown
ESAMENSG00000149564ENST00000278927p.G364Gc.1092G>TSubstitution - coding silent
OR5B12ENSG00000172362ENST00000302572p.T161Ic.482C>TSubstitution - Missense
ENST00000557886_v68p.A149Ac.447C>ASubstitution - coding silent
RNASE6ENSG00000169413ENST00000304677p.H22Hc.66T>CSubstitution - coding silent
NLRP3ENSG00000162711ENST00000391828p.G455fs*49c.1361delGDeletion - Frameshift
CSMD2ENSG00000121904ENST00000241312p.S16Rc.48C>ASubstitution - Missense
MRE11AENSG00000020922ENST00000323929p.L169Pc.506T>CSubstitution - Missense
WSB2ENSG00000176871ENST00000315436p.L366Lc.1098G>ASubstitution - coding silent
RBM7ENSG00000076053ENST00000540163p.K159Ic.476A>TSubstitution - Missense
HCAR2ENSG00000182782ENST00000328880p.T119Tc.357G>TSubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.R22Qc.65G>ASubstitution - Missense
OR2M2ENSG00000198601ENST00000359682p.L143Lc.429T>CSubstitution - coding silent
SLC25A21ENSG00000183032ENST00000331299p.I204Ic.612C>ASubstitution - coding silent
TRIM9ENSG00000100505ENST00000360392p.G484Vc.1451G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.L714delLc.2141_2143delTCCDeletion - In frame
IPO8ENSG00000133704ENST00000256079p.?c.1881+5G>CUnknown
CACNA1CENSG00000151067ENST00000399634p.Y1214*c.3642C>GSubstitution - Nonsense
OR2T12ENSG00000177201ENST00000317996p.A31Ac.93C>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T6151Tc.18453A>TSubstitution - coding silent
MACROD2ENSG00000172264ENST00000217246p.L225Sc.674T>CSubstitution - Missense
NGFRENSG00000064300ENST00000172229p.V71Vc.213G>CSubstitution - coding silent
CRHR1ENSG00000120088ENST00000314537p.L190*c.569T>ASubstitution - Nonsense
MYO15AENSG00000091536ENST00000205890p.E382*c.1144G>TSubstitution - Nonsense
CNBD1ENSG00000176571ENST00000518476p.N243Nc.729C>TSubstitution - coding silent
TAF1LENSG00000122728ENST00000242310p.P187Tc.559C>ASubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.E896Dc.2688G>TSubstitution - Missense
B4GALT6ENSG00000118276ENST00000306851p.L178Lc.534G>CSubstitution - coding silent
HIST1H3BENSG00000124693ENST00000244661p.R18Lc.53G>TSubstitution - Missense
KCTD8ENSG00000183783ENST00000360029p.T386Nc.1157C>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.V651Vc.1953G>CSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.G1135Vc.3404G>TSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.C35Rc.103T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.Y15846fs*5c.47536delTDeletion - Frameshift
KIAA1715ENSG00000144320ENST00000272748p.P371Tc.1111C>ASubstitution - Missense
CXorf67ENSG00000187690ENST00000342995p.V113fs*35c.333_334delGTDeletion - Frameshift
ANK1ENSG00000029534ENST00000265709p.R624Qc.1871G>ASubstitution - Missense
CTNNA2ENSG00000066032ENST00000466387p.A465Dc.1394C>ASubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.P109Pc.327T>GSubstitution - coding silent
TENSG00000164458ENST00000296946p.Q243Kc.727C>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.L397Lc.1191G>TSubstitution - coding silent
IFT80ENSG00000068885ENST00000326448p.?c.1837-6C>GUnknown
MAP7ENSG00000135525ENST00000354570p.H173Hc.519C>TSubstitution - coding silent
NM_000052.2p.K109Nc.327G>CSubstitution - Missense
TMX3ENSG00000166479ENST00000299608p.?c.849-1G>TUnknown
SBF1ENSG00000100241ENST00000380817p.C630Cc.1890C>TSubstitution - coding silent
TSHZ1ENSG00000179981ENST00000322038p.P500Rc.1499C>GSubstitution - Missense
ENST00000217537p.T816Tc.2448G>ASubstitution - coding silent
F2RENSG00000181104ENST00000319211p.P282Ac.844C>GSubstitution - Missense
PRRC1ENSG00000164244ENST00000512635p.P438Pc.1314T>CSubstitution - coding silent
TNFRSF11BENSG00000164761ENST00000297350p.K366Kc.1098G>ASubstitution - coding silent
SERPINB7ENSG00000166396ENST00000336429p.N251Kc.753C>ASubstitution - Missense
SLC6A7ENSG00000011083ENST00000230671p.Y65Nc.193T>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.R1154Lc.3461G>TSubstitution - Missense
HAND1ENSG00000113196ENST00000231121p.A58Tc.172G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.C1108*c.3324C>ASubstitution - Nonsense
ZNF786ENSG00000197362ENST00000491431p.P67Sc.199C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.D215Nc.643G>ASubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.?c.737-7C>TUnknown
ITPR3ENSG00000096433ENST00000374316p.G1864Gc.5592C>TSubstitution - coding silent
MYBPC3ENSG00000134571ENST00000545968p.R1022Cc.3064C>TSubstitution - Missense
TP63ENSG00000073282ENST00000418709p.G349fs*8c.1040_1041insCInsertion - Frameshift
NLNENSG00000123213ENST00000380985p.Y99Cc.296A>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.G4186Gc.12558C>GSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000553158p.L478Rc.1433T>GSubstitution - Missense
RAPGEF4ENSG00000091428ENST00000264111p.V764Vc.2292G>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.C277Fc.830G>TSubstitution - Missense
TKTL2ENSG00000151005ENST00000280605p.D607Hc.1819G>CSubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.V311Lc.931G>TSubstitution - Missense
ENST00000399269p.S35Sc.105G>ASubstitution - coding silent
LIPKENSG00000204021ENST00000404190p.W10*c.30G>ASubstitution - Nonsense
CDHR1ENSG00000148600ENST00000372117p.G647Ec.1940G>ASubstitution - Missense
FANCIENSG00000140525ENST00000300027p.S890Cc.2668A>TSubstitution - Missense
NM_014903.3p.Q1364*c.4090C>TSubstitution - Nonsense
KCNH3ENSG00000135519ENST00000257981p.A294Gc.881C>GSubstitution - Missense
OR5A2ENSG00000172324ENST00000302040p.K25Kc.75G>ASubstitution - coding silent
SHISA2ENSG00000180730ENST00000319420p.R174Pc.521G>CSubstitution - Missense
GABREENSG00000102287ENST00000370328p.?c.564-2A>TUnknown
EPB42ENSG00000166947ENST00000300215p.K253Kc.759G>ASubstitution - coding silent
BEST4ENSG00000142959ENST00000372207p.G377Sc.1129G>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.H569Qc.1707C>ASubstitution - Missense
TBX5ENSG00000089225ENST00000310346p.K226Nc.678G>CSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.S2168Yc.6503C>ASubstitution - Missense
C16orf45ENSG00000166780ENST00000300006p.L152Lc.456G>CSubstitution - coding silent
TRIM9ENSG00000100505ENST00000338969p.G480Rc.1438G>CSubstitution - Missense
ATP8B4ENSG00000104043ENST00000284509p.A1030Sc.3088G>TSubstitution - Missense
HSPA2ENSG00000126803ENST00000394709p.L402Wc.1205T>GSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.L1982Vc.5944C>GSubstitution - Missense
EPB41L1ENSG00000088367ENST00000338074p.T609Tc.1827G>TSubstitution - coding silent
ATRNENSG00000088812ENST00000262919p.N351Sc.1052A>GSubstitution - Missense
NFS1ENSG00000244005ENST00000374092p.G305Wc.913G>TSubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.Q606Qc.1818G>ASubstitution - coding silent
SETD5ENSG00000168137ENST00000302463p.P329Lc.986C>TSubstitution - Missense
ABCC12ENSG00000140798ENST00000311303p.R461Mc.1382G>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.R1216Hc.3647G>ASubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.R1451Hc.4352G>ASubstitution - Missense
RDH10ENSG00000121039ENST00000240285p.S301Cc.901A>TSubstitution - Missense
ENST00000201961_v71p.E175*c.523G>TSubstitution - Nonsense
EPHB6ENSG00000106123ENST00000392957p.G304Gc.912A>TSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359125p.P424Tc.1270C>ASubstitution - Missense
MAN2A1ENSG00000112893ENST00000261483p.Y23Fc.68A>TSubstitution - Missense
TTC21AENSG00000168026ENST00000431162p.A788Sc.2362G>TSubstitution - Missense
ENST00000330166p.G1423Rc.4267G>ASubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.Y382Sc.1145A>CSubstitution - Missense
WNT10AENSG00000135925ENST00000258411p.L198fs*23c.593_609del17Deletion - Frameshift
ABCB5ENSG00000004846ENST00000404938p.L842Lc.2526G>TSubstitution - coding silent
CCR9ENSG00000173585ENST00000357632p.W157*c.471G>ASubstitution - Nonsense
DSTENSG00000151914ENST00000370765p.R554Wc.1660A>TSubstitution - Missense
C6orf52ENSG00000137434ENST00000259983p.D100Yc.298G>TSubstitution - Missense
PABPC5ENSG00000174740ENST00000312600p.G266*c.796G>TSubstitution - Nonsense
PTPRDENSG00000153707ENST00000537002p.?c.682+6A>TUnknown
FBN2ENSG00000138829ENST00000262464p.S2374Sc.7122A>TSubstitution - coding silent
BRCA1ENSG00000012048ENST00000357654p.K1233Ic.3698A>TSubstitution - Missense
SARDHENSG00000123453ENST00000371872p.?c.511-5C>GUnknown
SARDHENSG00000123453ENST00000298628p.?c.511-5C>GUnknown
KIF2BENSG00000141200ENST00000268919p.R160Lc.479G>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.D1129Nc.3385G>ASubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.I1321Mc.3963C>GSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.A202Ac.606C>TSubstitution - coding silent
TRPV5ENSG00000127412ENST00000265310p.T269Rc.806C>GSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.Q2395Hc.7185A>TSubstitution - Missense
PCDHA8ENSG00000204962ENST00000378123p.R62Rc.186C>ASubstitution - coding silent
ENST00000326295p.A51Ac.153C>ASubstitution - coding silent
PDE4DENSG00000113448ENST00000405755p.S632Gc.1894A>GSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.R699Lc.2096G>TSubstitution - Missense
PTCHD4ENSG00000244694ENST00000339488p.H816Qc.2448C>GSubstitution - Missense
GALNT13ENSG00000144278ENST00000392825p.N364Kc.1092C>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.R2124Hc.6371G>ASubstitution - Missense
OR1J4ENSG00000239590ENST00000340750p.H220Nc.658C>ASubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.H72Pc.215A>CSubstitution - Missense
CLK4ENSG00000113240ENST00000316308p.M181Ic.543G>ASubstitution - Missense
ENST00000333984p.I10Ic.30C>TSubstitution - coding silent
GRIP1ENSG00000155974ENST00000359742p.R440Sc.1320G>TSubstitution - Missense
LATS1ENSG00000131023ENST00000392273p.P452Hc.1355C>ASubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.H387Qc.1161T>GSubstitution - Missense
ARAP2ENSG00000047365ENST00000303965p.R1549Qc.4646G>ASubstitution - Missense
SLCO1C1ENSG00000139155ENST00000381552p.T323Tc.969A>TSubstitution - coding silent
OR51D1ENSG00000197428ENST00000357605p.G221Cc.661G>TSubstitution - Missense
NM_032496.1p.T716Nc.2147C>ASubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.A171Vc.512C>TSubstitution - Missense
CLPBENSG00000162129ENST00000294053p.K623fs*4c.1869delADeletion - Frameshift
EP400ENSG00000183495ENST00000389561p.P3080Pc.9240G>TSubstitution - coding silent
ZNF26ENSG00000198393ENST00000328654p.G399Ac.1196G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.G2310Vc.6929G>TSubstitution - Missense
ZNF669ENSG00000188295ENST00000343381p.R326Wc.976A>TSubstitution - Missense
MCTP2ENSG00000140563ENST00000357742p.E430Ec.1290A>GSubstitution - coding silent
SPATA8ENSG00000185594ENST00000328504p.Q90Kc.268C>ASubstitution - Missense
ZNF774ENSG00000196391ENST00000354377p.E435Vc.1304A>TSubstitution - Missense
FBXW8ENSG00000174989ENST00000309909p.W486*c.1457G>ASubstitution - Nonsense
SLC39A12ENSG00000148482ENST00000377374p.G368Sc.1102G>ASubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.A537Pc.1609G>CSubstitution - Missense
UBCENSG00000150991ENST00000339647p.I188Ic.564T>CSubstitution - coding silent
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
KNSTRNENSG00000128944ENST00000249776p.G98Cc.292G>TSubstitution - Missense
FOXA2ENSG00000125798ENST00000377115p.P126Lc.377C>TSubstitution - Missense
ENST00000339740p.G393fs*6c.1174delGDeletion - Frameshift
B4GALNT2ENSG00000167080ENST00000300404p.G504Ac.1511G>CSubstitution - Missense
CADPSENSG00000163618ENST00000383710p.?c.2457+7A>GUnknown
C17orf70ENSG00000185504ENST00000327787p.H645Hc.1935C>TSubstitution - coding silent
ENST00000357018p.?c.3993-6C>TUnknown
DNMT3BENSG00000088305ENST00000328111p.Q783Hc.2349G>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.E3222*c.9664G>TSubstitution - Nonsense
HECW2ENSG00000138411ENST00000260983p.R1479Lc.4436G>TSubstitution - Missense
KIF3CENSG00000084731ENST00000264712p.P404Hc.1211C>ASubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.K1705*c.5113A>TSubstitution - Nonsense
MTMR14ENSG00000163719ENST00000296003p.R419Qc.1256G>ASubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.E615*c.1843G>TSubstitution - Nonsense
C6orf118ENSG00000112539ENST00000230301p.G100Vc.299G>TSubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.A584Dc.1751C>ASubstitution - Missense
C7orf31ENSG00000153790ENST00000283905p.D314Yc.940G>TSubstitution - Missense
MED12LENSG00000144893ENST00000474524p.C544Yc.1631G>ASubstitution - Missense
ENST00000319509_v65p.V583Lc.1747G>TSubstitution - Missense
SLC41A3ENSG00000114544ENST00000315891p.G21Wc.61G>TSubstitution - Missense
ALDH1L1ENSG00000144908ENST00000393434p.E434Kc.1300G>ASubstitution - Missense
RTN2ENSG00000125744ENST00000245923p.E45*c.133G>TSubstitution - Nonsense
MDGA1ENSG00000112139ENST00000297153p.V386Vc.1158G>TSubstitution - coding silent
SLC7A14ENSG00000013293ENST00000231706p.I93Tc.278T>CSubstitution - Missense
GGNENSG00000179168ENST00000334928p.P426Pc.1278C>ASubstitution - coding silent
DCLK2ENSG00000170390ENST00000296550p.P736Pc.2208G>ASubstitution - coding silent
KIAA0922ENSG00000121210ENST00000409959p.?c.309-1G>TUnknown
PEX5LENSG00000114757ENST00000467460p.L571Fc.1713G>TSubstitution - Missense
ZNF569ENSG00000196437ENST00000316950p.P50Lc.149C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.G1831Rc.5491G>ASubstitution - Missense
PCDHA8ENSG00000204962ENST00000531613p.R62Rc.186C>ASubstitution - coding silent
MCF2ENSG00000101977ENST00000370573p.?c.1490+1G>TUnknown
OR10H1ENSG00000186723ENST00000334920p.R90Rc.270C>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.R2119Hc.6356G>ASubstitution - Missense
DLL3ENSG00000090932ENST00000356433p.S560Sc.1680C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000424560p.L488Lc.1462T>CSubstitution - coding silent
DIS3L2ENSG00000144535ENST00000360410p.T318Tc.954A>GSubstitution - coding silent
LYRM2ENSG00000083099ENST00000523377p.S88Yc.263C>ASubstitution - Missense
TNIKENSG00000154310ENST00000436636p.?c.1774-1G>TUnknown
DAOENSG00000110887ENST00000228476p.?c.195-3C>TUnknown
NAV3ENSG00000067798ENST00000397909p.Q2040Kc.6118C>ASubstitution - Missense
EXOC6ENSG00000138190ENST00000260762p.P486Sc.1456C>TSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.G140Rc.418G>CSubstitution - Missense
CYP2C8ENSG00000138115ENST00000535898p.?c.175+3G>TUnknown
RELTENSG00000054967ENST00000064780p.S309Fc.926C>TSubstitution - Missense
NANOGENSG00000111704ENST00000229307p.P66Tc.196C>ASubstitution - Missense
PZPENSG00000126838ENST00000381997p.S724Sc.2172C>ASubstitution - coding silent
GPR26ENSG00000154478ENST00000284674p.A140Ac.420C>GSubstitution - coding silent
MYO7AENSG00000137474ENST00000409709p.A1392Sc.4174G>TSubstitution - Missense
EPB41ENSG00000159023ENST00000343067p.K354Qc.1060A>CSubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.D111_E112insDc.335_336insTGAInsertion - In frame
SLC8A3ENSG00000100678ENST00000357887p.L136Rc.407T>GSubstitution - Missense
XM_052561.7p.R854Lc.2561G>TSubstitution - Missense
SMOC1ENSG00000198732ENST00000361956p.S351*c.1052C>ASubstitution - Nonsense
DLG2ENSG00000150672ENST00000398309p.R182Gc.544C>GSubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.I10Lc.28A>CSubstitution - Missense
CYP4A22ENSG00000162365ENST00000371891p.?c.790+2T>CUnknown
UNC13DENSG00000092929ENST00000207549p.P991Pc.2973G>ASubstitution - coding silent
CHD7ENSG00000171316ENST00000423902p.G2075*c.6223G>TSubstitution - Nonsense
BCORL1ENSG00000085185ENST00000218147p.K1125Nc.3375G>TSubstitution - Missense
NM_020856.1p.L143Mc.427C>ASubstitution - Missense
HTR2CENSG00000147246ENST00000371951p.T139Ic.416C>TSubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.N1617Dc.4849A>GSubstitution - Missense
GGT7ENSG00000131067ENST00000336431p.P233Pc.699C>TSubstitution - coding silent
HELZENSG00000198265ENST00000358691p.L1543Vc.4627C>GSubstitution - Missense
TNFRSF10BENSG00000120889ENST00000276431p.S234Ac.700T>GSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.G1135Vc.3404G>TSubstitution - Missense
SVOPLENSG00000157703ENST00000288513p.L220Mc.658C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R15828Rc.47482A>CSubstitution - coding silent
POTEHENSG00000198062ENST00000343518p.G473Dc.1418G>ASubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.?c.1159-8C>TUnknown
RPL7ENSG00000147604ENST00000352983p.M1Ic.3G>TSubstitution - Missense
PDIA2ENSG00000185615ENST00000219406p.S521Yc.1562C>ASubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.G197Vc.590G>TSubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.E437Kc.1309G>ASubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.G432Vc.1295G>TSubstitution - Missense
VIPENSG00000146469ENST00000367244p.Q22Kc.64C>ASubstitution - Missense
SEMA3CENSG00000075223ENST00000265361p.E357Vc.1070A>TSubstitution - Missense
NM_033267.2p.G379Dc.1136G>ASubstitution - Missense
EFCAB12ENSG00000172771ENST00000505956p.Q341Lc.1022A>TSubstitution - Missense
CCDC80ENSG00000091986ENST00000206423p.E823Dc.2469G>TSubstitution - Missense
BTBD9ENSG00000183826ENST00000314100p.P532Qc.1595C>ASubstitution - Missense
ALG12ENSG00000182858ENST00000330817p.N471Nc.1413C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.G1706Gc.5118G>TSubstitution - coding silent
LACE1ENSG00000135537ENST00000368977p.S409Sc.1227G>TSubstitution - coding silent
TRIOBPENSG00000100106ENST00000407319p.A136Tc.406G>ASubstitution - Missense
GRIK2ENSG00000164418ENST00000318991p.Q339Kc.1015C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.A2762Sc.8284G>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.S2168Yc.6503C>ASubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.Q546Hc.1638G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.D1550Dc.4650C>TSubstitution - coding silent
PLECENSG00000178209ENST00000356346p.E3208*c.9622G>TSubstitution - Nonsense
HVCN1ENSG00000122986ENST00000356742p.I105Ic.315C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.?c.4033-1G>TUnknown
LIN9ENSG00000183814ENST00000328205p.R183Qc.548G>ASubstitution - Missense
SLC30A10ENSG00000196660ENST00000366926p.R367Rc.1099C>ASubstitution - coding silent
OR8D1ENSG00000196341ENST00000357821p.D269Ec.807C>ASubstitution - Missense
OR8B2ENSG00000204293ENST00000375013p.N5Ic.14A>TSubstitution - Missense
NM_000770.2p.?c.481+3G>TUnknown
ENSG00000204038ENST00000356374p.L4Lc.10T>CSubstitution - coding silent
ENOX1ENSG00000120658ENST00000261488p.R298Gc.892C>GSubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.G704Vc.2111G>TSubstitution - Missense
DPY19L2ENSG00000177990ENST00000324472p.L456Lc.1368G>ASubstitution - coding silent
CNTN5ENSG00000149972ENST00000528682p.C551*c.1653C>ASubstitution - Nonsense
RASGRF1ENSG00000058335ENST00000419573p.A595Gc.1784C>GSubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.T2079Tc.6237G>TSubstitution - coding silent
SEC31BENSG00000075826ENST00000370345p.L566Ic.1696C>ASubstitution - Missense
LCKENSG00000182866ENST00000373564p.V28Vc.84C>TSubstitution - coding silent
MAP3K9ENSG00000006432ENST00000555993p.?c.821-9C>TUnknown
MUC6ENSG00000184956ENST00000421673p.A1266Ac.3798C>ASubstitution - coding silent
TREHENSG00000118094ENST00000264029p.M512Tc.1535T>CSubstitution - Missense
AMICA1ENSG00000160593ENST00000356289p.N21Tc.62A>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.Y1264*c.3792C>GSubstitution - Nonsense
CAPRIN2ENSG00000110888ENST00000251071p.R1106Kc.3317G>ASubstitution - Missense
CD163ENSG00000177575ENST00000359156p.Q759Lc.2276A>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.?c.1123-3T>CUnknown
CACNA1CENSG00000151067ENST00000347598p.I604Ic.1812C>ASubstitution - coding silent
OVCH1ENSG00000187950ENST00000318184p.W588*c.1763G>ASubstitution - Nonsense
KIF21BENSG00000116852ENST00000332129p.A1553Ac.4659G>ASubstitution - coding silent
NPR1ENSG00000169418ENST00000368680p.A287Sc.859G>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.E1312*c.3934G>TSubstitution - Nonsense
UNC79ENSG00000133958ENST00000256339p.?c.592-3T>CUnknown
FBN3ENSG00000142449ENST00000270509p.T1930Nc.5789C>ASubstitution - Missense
PPFIA3ENSG00000177380ENST00000334186p.G541Cc.1621G>TSubstitution - Missense
NBNENSG00000104320ENST00000265433p.V270fs*2c.808_809delGTDeletion - Frameshift
CADPSENSG00000163618ENST00000283269p.?c.2457+7A>GUnknown
PPP1R27ENSG00000182676ENST00000330261p.A66Ac.198C>ASubstitution - coding silent
AQP4ENSG00000171885ENST00000383168p.L247Vc.739C>GSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.M481Ic.1443G>ASubstitution - Missense
DEFB4BENSG00000177257ENST00000318157p.?c.58+1G>TUnknown
RYBPENSG00000163602ENST00000477973p.?c.423+8A>GUnknown
LOXHD1ENSG00000167210ENST00000398722p.V373Vc.1119G>CSubstitution - coding silent
OPRL1ENSG00000125510ENST00000349451p.V226Vc.678C>ASubstitution - coding silent
UNC5CENSG00000182168ENST00000453304p.P452Hc.1355C>ASubstitution - Missense
TRMT44ENSG00000155275ENST00000389737p.E308Dc.924A>TSubstitution - Missense
STX11ENSG00000135604ENST00000367568p.A113Ac.339G>TSubstitution - coding silent
GFM1ENSG00000168827ENST00000486715p.I51Ic.153C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.E1576Kc.4726G>ASubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.?c.2270-1G>AUnknown
NYAP1ENSG00000166924ENST00000300179p.G578Cc.1732G>TSubstitution - Missense
CLIP2ENSG00000106665ENST00000361545p.S864Sc.2592C>TSubstitution - coding silent
IQSEC1ENSG00000144711ENST00000273221p.Q458Pc.1373A>CSubstitution - Missense
GRIN2DENSG00000105464ENST00000263269p.R244Sc.730C>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.L2253Ic.6757C>ASubstitution - Missense
C16orf92ENSG00000167194ENST00000300575p.A40Sc.118G>TSubstitution - Missense
PNMAL2ENSG00000204851ENST00000377655p.N171fs*23c.512_513insAInsertion - Frameshift
LAMA1ENSG00000101680ENST00000389658p.V2169Vc.6507G>ASubstitution - coding silent
SNAPC3ENSG00000164975ENST00000380821p.R263Tc.788G>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.T397Tc.1191A>TSubstitution - coding silent
DDX46ENSG00000145833ENST00000354283p.?c.1954+10C>TUnknown
BAI3ENSG00000135298ENST00000370598p.S751Lc.2252C>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.G127Vc.380G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.E150*c.448G>TSubstitution - Nonsense
MAP4K4ENSG00000071054ENST00000350878p.L213Vc.637C>GSubstitution - Missense
BAI3ENSG00000135298ENST00000238918p.P83Hc.248C>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.R1179Lc.3536G>TSubstitution - Missense
RNF157ENSG00000141576ENST00000269391p.G208Vc.623G>TSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.R298Gc.892C>GSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.K770Ec.2308A>GSubstitution - Missense
HOXC8ENSG00000037965ENST00000040584p.P147Tc.439C>ASubstitution - Missense
GLI1ENSG00000111087ENST00000228682p.R496Rc.1488C>ASubstitution - coding silent
PROX1ENSG00000117707ENST00000498508p.F681Lc.2043C>ASubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.L1099Lc.3297C>GSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.G4180Gc.12540C>GSubstitution - coding silent
CABP2ENSG00000167791ENST00000294288p.P142Sc.424C>TSubstitution - Missense
TTC40ENSG00000171811ENST00000263170p.Q424Lc.1271A>TSubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.S344Sc.1032G>TSubstitution - coding silent
CNTN1ENSG00000018236ENST00000551295p.S217Fc.650C>TSubstitution - Missense
TRIM66ENSG00000166436ENST00000299550p.G980Vc.2939G>TSubstitution - Missense
BCL9ENSG00000116128ENST00000234739p.G78Gc.234C>GSubstitution - coding silent
TRIM9ENSG00000100505ENST00000298355p.G484Vc.1451G>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.D574Dc.1722C>TSubstitution - coding silent
TSHRENSG00000165409ENST00000554435p.?c.545+7A>GUnknown
EML5ENSG00000165521ENST00000554922p.?c.1187+5G>TUnknown
MUC16ENSG00000181143ENST00000397910p.T7114Ac.21340A>GSubstitution - Missense
HS2ST1ENSG00000153936ENST00000370550p.D69Nc.205G>ASubstitution - Missense
SGTAENSG00000104969ENST00000221566p.I118Mc.354C>GSubstitution - Missense
DMRT3ENSG00000064218ENST00000190165p.R341Kc.1022G>ASubstitution - Missense
STAG2ENSG00000101972ENST00000218089p.W102Cc.306G>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.E647Vc.1940A>TSubstitution - Missense
TMEM8BENSG00000137103ENST00000377996p.S282Pc.844T>CSubstitution - Missense
NM_015461.1p.T690Ac.2068A>GSubstitution - Missense
ZNF69ENSG00000198429ENST00000429654p.H242Yc.724C>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.E103*c.307G>TSubstitution - Nonsense
RCAN1ENSG00000159200ENST00000381132p.S20Cc.58A>TSubstitution - Missense
PHKBENSG00000102893ENST00000323584p.L440Pc.1319T>CSubstitution - Missense
REEP1ENSG00000068615ENST00000165698p.Q184Hc.552G>TSubstitution - Missense
ENST00000399413_v68p.P44Pc.132T>CSubstitution - coding silent
DNMT3BENSG00000088305ENST00000201963p.Q775Hc.2325G>TSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.?c.7344+3G>TUnknown
KRT20ENSG00000171431ENST00000167588p.N177Sc.530A>GSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.G430Rc.1288G>CSubstitution - Missense
CNGB1ENSG00000070729ENST00000251102p.A1141Ac.3423G>CSubstitution - coding silent
WDR13ENSG00000101940ENST00000376729p.A159Sc.475G>TSubstitution - Missense
AKAP4ENSG00000147081ENST00000358526p.A425Ac.1275C>ASubstitution - coding silent
NLRP13ENSG00000173572ENST00000342929p.L455Vc.1363C>GSubstitution - Missense
TXLNBENSG00000164440ENST00000367652p.G108Gc.322G>TSubstitution - coding silent
NM_001371.1p.V4364Ec.13091T>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.I1056delIc.3162_3164delTATDeletion - In frame
ENST00000217537p.G14Cc.40G>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.T2007Sc.6019A>TSubstitution - Missense
MAML3ENSG00000196782ENST00000509479p.?c.2080-4C>AUnknown
CD300LGENSG00000161649ENST00000293396p.I81Ic.243C>ASubstitution - coding silent
KRT13ENSG00000171401ENST00000246635p.A169Vc.506C>TSubstitution - Missense
GRK4ENSG00000125388ENST00000398052p.G269Gc.807A>TSubstitution - coding silent
TAF15ENSG00000172660ENST00000311979p.G565_G572delGYGGDRGGc.1663_1686del24Deletion - In frame
TAF15ENSG00000172660ENST00000311979p.G556Gc.1668C>GSubstitution - coding silent
PRKCIENSG00000163558ENST00000295797p.R426Gc.1276A>GSubstitution - Missense
PPARGC1BENSG00000155846ENST00000309241p.G404Rc.1210G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
PSG6ENSG00000170848ENST00000187910p.T324Ic.971C>TSubstitution - Missense
TBR1ENSG00000136535ENST00000389554p.Q352Hc.1056G>TSubstitution - Missense
DENND1AENSG00000119522ENST00000373624p.A784Sc.2350G>TSubstitution - Missense
TMEM71ENSG00000165071ENST00000356838p.A229Ec.686C>ASubstitution - Missense
NPY5RENSG00000164129ENST00000338566p.P267Pc.801T>ASubstitution - coding silent
TENM3ENSG00000218336ENST00000511685p.I2094Vc.6280A>GSubstitution - Missense
OR52E2ENSG00000176787ENST00000321522p.F87Sc.260T>CSubstitution - Missense
PDE4DENSG00000113448ENST00000317118p.S463Gc.1387A>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.?c.1295+5G>AUnknown
CTNNA2ENSG00000066032ENST00000361291p.A499Ac.1497C>ASubstitution - coding silent
ZCCHC16ENSG00000187823ENST00000340433p.I87Ic.261C>ASubstitution - coding silent
DCTENSG00000080166ENST00000446125p.N105Yc.313A>TSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.G140Rc.418G>CSubstitution - Missense
CDHR1ENSG00000148600ENST00000332904p.G647Ec.1940G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.?c.809+7G>TUnknown
SLCO1C1ENSG00000139155ENST00000266509p.T323Tc.969A>TSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.?c.1980-5C>AUnknown
ATP2B1ENSG00000070961ENST00000261173p.L369Lc.1107G>TSubstitution - coding silent
GIFENSG00000134812ENST00000257248p.G218Sc.652G>ASubstitution - Missense
SLC4A8ENSG00000050438ENST00000453097p.H822Yc.2464C>TSubstitution - Missense
SPOCD1ENSG00000134668ENST00000360482p.G221Gc.663G>TSubstitution - coding silent
ANO6ENSG00000177119ENST00000425752p.Y476Cc.1427A>GSubstitution - Missense
MRE11AENSG00000020922ENST00000323929p.D468Hc.1402G>CSubstitution - Missense
CDC123ENSG00000151465ENST00000281141p.Q333Lc.998A>TSubstitution - Missense
NLRP14ENSG00000158077ENST00000299481p.S886Sc.2658A>CSubstitution - coding silent
SORCS1ENSG00000108018ENST00000263054p.P1096Qc.3287C>ASubstitution - Missense
AMER2ENSG00000165566ENST00000357816p.C359Sc.1075T>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.A3264Sc.9790G>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.R683Wc.2047C>TSubstitution - Missense
CST6ENSG00000175315ENST00000312134p.V103Vc.309C>ASubstitution - coding silent
CLCN7ENSG00000103249ENST00000382745p.K643Rc.1928A>GSubstitution - Missense
NPRL3ENSG00000103148ENST00000399953p.?c.318+5G>TUnknown
SV2BENSG00000185518ENST00000394232p.R106Sc.316C>ASubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.L346Mc.1036C>ASubstitution - Missense
PAX7ENSG00000009709ENST00000420770p.K486Rc.1457A>GSubstitution - Missense
BDKRB1ENSG00000100739ENST00000216629p.I47Ic.141C>ASubstitution - coding silent
SLC6A13ENSG00000010379ENST00000343164p.C162Sc.485G>CSubstitution - Missense
DNAJC6ENSG00000116675ENST00000371069p.?c.193+1G>TUnknown
XM_042978.4p.A1354Sc.4060G>TSubstitution - Missense
NM_015691.2p.A450fs*47c.1347delGDeletion - Frameshift
SPATA31A6ENSG00000185775ENST00000332857p.L472Mc.1414C>ASubstitution - Missense
SETD5ENSG00000168137ENST00000402198p.P427Lc.1280C>TSubstitution - Missense
ASTLENSG00000188886ENST00000342380p.V102Mc.304G>ASubstitution - Missense
DCCENSG00000187323ENST00000442544p.V279Vc.837C>GSubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000402254p.M252Ic.756G>TSubstitution - Missense
HDLBPENSG00000115677ENST00000391975p.G747fs*27c.2240delGDeletion - Frameshift
C2orf53ENSG00000186143ENST00000335524p.Q204Lc.611A>TSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.D759Nc.2275G>ASubstitution - Missense
OR5H1ENSG00000231192ENST00000354565p.Y259Dc.775T>GSubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.R591Qc.1772G>ASubstitution - Missense
OSBPL10ENSG00000144645ENST00000396556p.H535Yc.1603C>TSubstitution - Missense
HGFENSG00000019991ENST00000222390p.?c.1864+6C>AUnknown
PCLOENSG00000186472ENST00000333891p.E1507Kc.4519G>ASubstitution - Missense
ADGBENSG00000118492ENST00000397944p.A17Ac.51G>TSubstitution - coding silent
ESR1ENSG00000091831ENST00000440973p.S450fs*6c.1344_1345insAInsertion - Frameshift
FAT4ENSG00000196159ENST00000394329p.G1423Rc.4267G>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.T1631Tc.4893A>TSubstitution - coding silent
ENST00000324457p.T44Tc.132A>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.D1703Yc.5107G>TSubstitution - Missense
TMEM200AENSG00000164484ENST00000296978p.R421Mc.1262G>TSubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.L222Pc.665T>CSubstitution - Missense
TRIM15ENSG00000204610ENST00000376694p.R279Mc.836G>TSubstitution - Missense
CYP4F22ENSG00000171954ENST00000269703p.E378Qc.1132G>CSubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.V692fs*19c.2071_2072insACInsertion - Frameshift
ZNF334ENSG00000198185ENST00000347606p.C379Fc.1136G>TSubstitution - Missense
PLTPENSG00000100979ENST00000372431p.H297Nc.889C>ASubstitution - Missense
PI3ENSG00000124102ENST00000243924p.C104Fc.311G>TSubstitution - Missense
VEGFCENSG00000150630ENST00000280193p.N250Sc.749A>GSubstitution - Missense
PTCHD2ENSG00000204624ENST00000389575p.R637Wc.1909C>TSubstitution - Missense
OTUD6AENSG00000189401ENST00000338352p.S195Nc.584G>ASubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.A1079Dc.3236C>ASubstitution - Missense
DMXL1ENSG00000172869ENST00000311085p.A2419Sc.7255G>TSubstitution - Missense
FAM13BENSG00000031003ENST00000033079p.V706Vc.2118A>TSubstitution - coding silent
AHI1ENSG00000135541ENST00000327035p.K34fs*23c.101delADeletion - Frameshift
SPACA1ENSG00000118434ENST00000237201p.G104fs*9c.310delGDeletion - Frameshift
NM_133170.2p.?c.486+6G>TUnknown
TNXBENSG00000168477ENST00000375247p.R699Lc.2096G>TSubstitution - Missense
TMEM71ENSG00000165071ENST00000356838p.A218Sc.652G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.S217Fc.650C>TSubstitution - Missense
UBE4BENSG00000130939ENST00000377157p.?c.461+7G>TUnknown
ZNF687ENSG00000143373ENST00000368879p.R683Wc.2047C>TSubstitution - Missense
CDC14BENSG00000081377ENST00000375236p.N70Kc.210T>GSubstitution - Missense
SPACA1ENSG00000118434ENST00000237201p.E171*c.511G>TSubstitution - Nonsense
FTHL17ENSG00000132446ENST00000359202p.A104Sc.310G>TSubstitution - Missense
ENST00000326184p.P920Pc.2760A>TSubstitution - coding silent
SIAH3ENSG00000215475ENST00000400405p.A152Ac.456G>TSubstitution - coding silent
UGGT2ENSG00000102595ENST00000376747p.A237Pc.709G>CSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.T510Sc.1528A>TSubstitution - Missense
CHRM4ENSG00000180720ENST00000433765p.A301Tc.901G>ASubstitution - Missense
EXOC6ENSG00000138190ENST00000371552p.P481Sc.1441C>TSubstitution - Missense
INPP5AENSG00000068383ENST00000368594p.G211Cc.631G>TSubstitution - Missense
NLRP10ENSG00000182261ENST00000328600p.W225Rc.673T>ASubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.E502Dc.1506G>TSubstitution - Missense
CTTNENSG00000085733ENST00000376561p.?c.1066-1G>TUnknown
LCKENSG00000182866ENST00000336890p.V28Vc.84C>TSubstitution - coding silent
CITENSG00000122966ENST00000261833p.I511Vc.1531A>GSubstitution - Missense
FBXO44ENSG00000132879ENST00000376770p.L181Lc.543G>ASubstitution - coding silent
SCMH1ENSG00000010803ENST00000372597p.L43Lc.127C>TSubstitution - coding silent
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
NM_015133.2p.V699Vc.2097G>TSubstitution - coding silent
DLG2ENSG00000150672ENST00000280241p.R221Gc.661C>GSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367661p.H229Hc.687C>TSubstitution - coding silent
BEST3ENSG00000127325ENST00000330891p.L242Hc.725T>ASubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.A516Dc.1547C>ASubstitution - Missense
ENSG00000267561ENST00000370548p.D43Nc.127G>ASubstitution - Missense
EVLENSG00000196405ENST00000392920p.A177Sc.529G>TSubstitution - Missense
PLEKHN1ENSG00000187583ENST00000379409p.?c.331-6G>AUnknown
RPL4ENSG00000174444ENST00000307961p.V387Lc.1159G>CSubstitution - Missense
ENST00000215591p.V513Gc.1538T>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H13864Nc.41590C>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.G4007Gc.12021C>ASubstitution - coding silent
TNRC6CENSG00000078687ENST00000335749p.?c.4414+7G>TUnknown
CNBD1ENSG00000176571ENST00000518476p.N243Nc.729C>TSubstitution - coding silent
LBPENSG00000129988ENST00000217407p.G46Vc.137G>TSubstitution - Missense
ENST00000411702p.M2457Ic.7371G>ASubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.A339Sc.1015G>TSubstitution - Missense
ZNF627ENSG00000198551ENST00000361113p.C365Yc.1094G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.Q606Qc.1818G>ASubstitution - coding silent
NM_003319p.R15636Rc.46906A>CSubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.S352Yc.1055C>ASubstitution - Missense
MGAT4BENSG00000161013ENST00000337755p.F558Fc.1674C>TSubstitution - coding silent
CCDC14ENSG00000175455ENST00000488653p.Q377Hc.1131G>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.A3750Ec.11249C>ASubstitution - Missense
FREM1ENSG00000164946ENST00000380894p.T167Tc.501A>TSubstitution - coding silent
FOXO3ENSG00000118689ENST00000343882p.H212Hc.636C>TSubstitution - coding silent
NAT8LENSG00000185818ENST00000331662p.R62Lc.185G>TSubstitution - Missense
ENST00000576222_v68p.V578Vc.1734G>ASubstitution - coding silent
IFNL1ENSG00000182393ENST00000333625p.P23Hc.68C>ASubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.A704Ac.2112A>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000502484p.S693Gc.2077A>GSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.K481Ec.1441A>GSubstitution - Missense
ARMC4ENSG00000169126ENST00000545014p.N480Yc.1438A>TSubstitution - Missense
LRRC15ENSG00000172061ENST00000347624p.V459Vc.1377C>ASubstitution - coding silent
JPH2ENSG00000149596ENST00000372980p.Q356*c.1066C>TSubstitution - Nonsense
DGKGENSG00000058866ENST00000265022p.P430Pc.1290G>TSubstitution - coding silent
RXFP1ENSG00000171509ENST00000307765p.P431Sc.1291C>TSubstitution - Missense
OR51A7ENSG00000176895ENST00000359350p.N139Kc.417C>ASubstitution - Missense
NOP2ENSG00000111641ENST00000322166p.?c.1789+4A>GUnknown
TP63ENSG00000073282ENST00000354600p.G255fs*8c.758_759insCInsertion - Frameshift
PMFBP1ENSG00000118557ENST00000537465p.N422Kc.1266C>ASubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.L1336Vc.4006C>GSubstitution - Missense
ACSL6ENSG00000164398ENST00000379249p.K356Nc.1068G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.D1487Dc.4461C>TSubstitution - coding silent
DDX60LENSG00000181381ENST00000505890p.V1098Vc.3294T>ASubstitution - coding silent
HERPUD2ENSG00000122557ENST00000396081p.*407Lc.1220G>TNonstop extension
ASXL3ENSG00000141431ENST00000269197p.A1116Ac.3348T>ASubstitution - coding silent
CTNNA2ENSG00000066032ENST00000466387p.A465Ac.1395C>ASubstitution - coding silent
RAG2ENSG00000175097ENST00000311485p.M162Kc.485T>ASubstitution - Missense
TBC1D2BENSG00000167202ENST00000300584p.W674Sc.2021G>CSubstitution - Missense
TBC1D2BENSG00000167202ENST00000409931p.W674Sc.2021G>CSubstitution - Missense
FCAMRENSG00000162897ENST00000324852p.A286Tc.856G>ASubstitution - Missense
OR11H6ENSG00000176219ENST00000315519p.L238Lc.714G>CSubstitution - coding silent
OR52E6ENSG00000205409ENST00000329322p.E59*c.175G>TSubstitution - Nonsense
AMER2ENSG00000165566ENST00000515384p.C478Sc.1432T>ASubstitution - Missense
MTMR2ENSG00000087053ENST00000346299p.A321Vc.962C>TSubstitution - Missense
ZNF496ENSG00000162714ENST00000294753p.V280Fc.838G>TSubstitution - Missense
CDH23ENSG00000107736ENST00000461841p.T77Nc.230C>ASubstitution - Missense
NM_021990p.?c.225-2A>TUnknown
ARHGAP22ENSG00000128805ENST00000249601p.W145Cc.435G>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.N1906Kc.5718C>ASubstitution - Missense
PRCPENSG00000137509ENST00000393399p.W208Lc.623G>TSubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.Q546Hc.1638G>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.?c.2224-2A>TUnknown
FYBENSG00000082074ENST00000351578p.I118Ic.354C>ASubstitution - coding silent
C5orf42ENSG00000197603ENST00000425232p.A3070Pc.9208G>CSubstitution - Missense
TRIM9ENSG00000100505ENST00000360392p.G484Rc.1450G>CSubstitution - Missense
DAPK2ENSG00000035664ENST00000261891p.Q291Hc.873G>TSubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.?c.1377+6C>TUnknown
ZNF804AENSG00000170396ENST00000302277p.R116Pc.347G>CSubstitution - Missense
NM_032133.2p.K872*c.2614A>TSubstitution - Nonsense
MUC16ENSG00000181143ENST00000397910p.T6151Tc.18453A>TSubstitution - coding silent
LILRB1ENSG00000104972ENST00000396331p.P332Pc.996G>ASubstitution - coding silent
KEAP1ENSG00000079999ENST00000393623p.P44Pc.132C>TSubstitution - coding silent
ELAVL3ENSG00000196361ENST00000359227p.?c.752+6A>TUnknown
MATN2ENSG00000132561ENST00000520016p.P211Ac.631C>GSubstitution - Missense
ENST00000400482p.S141Yc.422C>ASubstitution - Missense
PHKBENSG00000102893ENST00000566044p.L433Pc.1298T>CSubstitution - Missense
TMPRSS11BENSG00000185873ENST00000332644p.P373Lc.1118C>TSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.S683Nc.2048G>ASubstitution - Missense
KCTD8ENSG00000183783ENST00000360029p.I450Ic.1350C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.G1135Vc.3404G>TSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.R755Tc.2264G>CSubstitution - Missense
ZNF668ENSG00000167394ENST00000394983p.R128Lc.383G>TSubstitution - Missense
ZNF860ENSG00000197385ENST00000360311p.R446*c.1336C>TSubstitution - Nonsense
NM_203407.1p.V113fs*35c.333_334delGTDeletion - Frameshift
SSC5DENSG00000179954ENST00000389623p.P1444Hc.4331C>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.V1081Vc.3243T>ASubstitution - coding silent
LATS1ENSG00000131023ENST00000253339p.P452Hc.1355C>ASubstitution - Missense
CITED2ENSG00000164442ENST00000367651p.G74Wc.220G>TSubstitution - Missense
GPR56ENSG00000205336ENST00000379696p.R666Rc.1998G>TSubstitution - coding silent
ZNF804BENSG00000182348ENST00000333190p.D992Ec.2976T>ASubstitution - Missense
ENST00000396788p.E1162Dc.3486G>TSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.F306fs*9c.915_916delTTDeletion - Frameshift
MUC17ENSG00000169876ENST00000306151p.E2472Dc.7416G>TSubstitution - Missense
FAM217AENSG00000145975ENST00000274673p.W379Cc.1137G>CSubstitution - Missense
OTPENSG00000171540ENST00000306422p.D6Yc.16G>TSubstitution - Missense
XM_377014.1p.S507Ic.1520G>TSubstitution - Missense
LNPEPENSG00000113441ENST00000231368p.A164Sc.490G>TSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.W866Cc.2598G>CSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.K1178Nc.3534G>TSubstitution - Missense
MCHR1ENSG00000128285ENST00000249016p.R59Lc.176G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.T3308Tc.9924C>ASubstitution - coding silent
TAF15ENSG00000172660ENST00000311979p.Y558Yc.1674T>CSubstitution - coding silent
CWH43ENSG00000109182ENST00000226432p.P673Hc.2018C>ASubstitution - Missense
ENST00000412250p.T65Tc.195C>TSubstitution - coding silent
TOP3BENSG00000100038ENST00000357179p.E465*c.1393G>TSubstitution - Nonsense
NWD1ENSG00000188039ENST00000339803p.V957Vc.2871C>GSubstitution - coding silent
LPHN2ENSG00000117114ENST00000402328p.S308Ic.923G>TSubstitution - Missense
DENND1AENSG00000119522ENST00000394219p.A795Sc.2383G>TSubstitution - Missense
SLC5A10ENSG00000154025ENST00000317977p.R76Qc.227G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.I1273delIc.3813_3815delTATDeletion - In frame
BAI3ENSG00000135298ENST00000238918p.V516Lc.1546G>TSubstitution - Missense
FAM193AENSG00000125386ENST00000324666p.P578Ac.1732C>GSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.P1182Pc.3546C>ASubstitution - coding silent
RNF111ENSG00000157450ENST00000348370p.P678Pc.2034G>ASubstitution - coding silent
CD82ENSG00000085117ENST00000227155p.R167Lc.500G>TSubstitution - Missense
KIAA0226LENSG00000102445ENST00000429979p.S329Tc.986G>CSubstitution - Missense
ANKRD52ENSG00000139645ENST00000267116p.G250Cc.748G>TSubstitution - Missense
SLC4A8ENSG00000050438ENST00000358657p.H849Yc.2545C>TSubstitution - Missense
ENST00000319957p.A935Gc.2804C>GSubstitution - Missense
GLI1ENSG00000111087ENST00000228682p.R497Sc.1489C>ASubstitution - Missense
PZPENSG00000126838ENST00000381997p.S724Yc.2171C>ASubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.S1091Yc.3272C>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.A1266Ac.3798C>ASubstitution - coding silent
ITGA8ENSG00000077943ENST00000378076p.A286Ac.858T>CSubstitution - coding silent
SPRR4ENSG00000184148ENST00000328051p.V32Ic.94G>ASubstitution - Missense
NIPBLENSG00000164190ENST00000282516p.?c.5328+9G>TUnknown
KCNK13ENSG00000152315ENST00000282146p.F262Fc.786C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.I604Ic.1812C>ASubstitution - coding silent
AKAP6ENSG00000151320ENST00000280979p.E1234Qc.3700G>CSubstitution - Missense
SEMA6DENSG00000137872ENST00000316364p.D629Yc.1885G>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.S1240Ic.3719G>TSubstitution - Missense
SLC5A10ENSG00000154025ENST00000395647p.R132Qc.395G>ASubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.L326Mc.976C>ASubstitution - Missense
FSBPENSG00000265817ENST00000481490p.S221Nc.662G>ASubstitution - Missense
C9orf156ENSG00000136932ENST00000375119p.G272Cc.814G>TSubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.S835Cc.2503A>TSubstitution - Missense
ENST00000313266p.R69Rc.207G>ASubstitution - coding silent
TTC21AENSG00000168026ENST00000431162p.Q866Hc.2598G>TSubstitution - Missense
NPAS2ENSG00000170485ENST00000335681p.P742Rc.2225C>GSubstitution - Missense
ARSGENSG00000141337ENST00000448504p.S145Fc.434C>TSubstitution - Missense
ZNF329ENSG00000181894ENST00000358067p.C457fs*14c.1369_1394del26Deletion - Frameshift
LATS1ENSG00000131023ENST00000543571p.P452Hc.1355C>ASubstitution - Missense
KCTD19ENSG00000168676ENST00000304372p.?c.1590+1G>AUnknown
XPO1ENSG00000082898ENST00000401558p.?c.1566+10G>TUnknown
F8ENSG00000185010ENST00000360256p.D579Yc.1735G>TSubstitution - Missense
SMSENSG00000102172ENST00000415881p.D213Nc.637G>ASubstitution - Missense
ENST00000381114p.E781Qc.2341G>CSubstitution - Missense
DTX3LENSG00000163840ENST00000296161p.S535Sc.1605C>TSubstitution - coding silent
KCNK17ENSG00000124780ENST00000453413p.N121Sc.362A>GSubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.E854Ec.2562G>ASubstitution - coding silent
NM_138737.1p.H1005Hc.3015T>CSubstitution - coding silent
TRIOBPENSG00000100106ENST00000406386p.A1849Tc.5545G>ASubstitution - Missense
AOC2ENSG00000131480ENST00000253799p.L160fs*9c.472delGDeletion - Frameshift
NM_022783.1p.Y140Hc.418T>CSubstitution - Missense
DCLK2ENSG00000170390ENST00000302176p.P753Pc.2259G>ASubstitution - coding silent
MED23ENSG00000112282ENST00000368068p.D968Yc.2902G>TSubstitution - Missense
RBM42ENSG00000126254ENST00000262633p.M205Ic.615G>CSubstitution - Missense
MSRAENSG00000175806ENST00000317173p.?c.211+5G>TUnknown
C7orf72ENSG00000164500ENST00000297001p.A405Vc.1214C>TSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.?c.2979+3delaUnknown
HKR1ENSG00000181666ENST00000324411p.T56fs*6c.164delGDeletion - Frameshift
LRRIQ4ENSG00000188306ENST00000340806p.L90Mc.268C>ASubstitution - Missense
GFAPENSG00000131095ENST00000253408p.R406Gc.1216A>GSubstitution - Missense
ENSG00000262304ENST00000572705p.S381Sc.1143G>TSubstitution - coding silent
MCF2ENSG00000101977ENST00000370578p.?c.1925+1G>TUnknown
THSD7AENSG00000005108ENST00000423059p.L34_L35insPLc.74_75insGCTGCCInsertion - In frame
COG8ENSG00000213380ENST00000306875p.T561Tc.1683G>CSubstitution - coding silent
ASB5ENSG00000164122ENST00000296525p.P314Tc.940C>ASubstitution - Missense
PDE4DENSG00000113448ENST00000507116p.S690Gc.2068A>GSubstitution - Missense
LCP2ENSG00000043462ENST00000046794p.?c.798+7T>AUnknown
TTC12ENSG00000149292ENST00000314756p.I268Tc.803T>CSubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.K482Ec.1444A>GSubstitution - Missense
KLHL6ENSG00000172578ENST00000341319p.K223Ec.667A>GSubstitution - Missense
OR9G1ENSG00000174914ENST00000312153p.P282Hc.845C>ASubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417247p.W55Cc.165G>CSubstitution - Missense
FLNBENSG00000136068ENST00000357272p.A971Ac.2913A>CSubstitution - coding silent
HLA-DQB2ENSG00000232629ENST00000435145p.S129Fc.386C>TSubstitution - Missense
CD300LGENSG00000161649ENST00000539718p.I81Ic.243C>ASubstitution - coding silent
TRIP12ENSG00000153827ENST00000543084p.A23Sc.67G>TSubstitution - Missense
MAP4K4ENSG00000071054ENST00000350198p.L233Vc.697C>GSubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.?c.809+7G>TUnknown
C1orf159ENSG00000131591ENST00000421241p.R176Qc.527G>ASubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.F400Fc.1200C>TSubstitution - coding silent
ENST00000361282p.F46Fc.138T>CSubstitution - coding silent
ENST00000361282p.E571Gc.1712A>GSubstitution - Missense
OR56A3ENSG00000184478ENST00000329564p.G246Dc.737G>ASubstitution - Missense
GOLGA6L19ENSG00000259243ENST00000557886p.A149Ac.447C>ASubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.G4439Vc.13316G>TSubstitution - Missense
SLKENSG00000065613ENST00000369755p.S14fs*41c.39_40insGInsertion - Frameshift
SORCS1ENSG00000108018ENST00000344440p.P639Ac.1915C>GSubstitution - Missense
ENST00000336486p.R191Pc.572G>CSubstitution - Missense
PGA5ENSG00000256713ENST00000312403p.I337Ic.1011C>TSubstitution - coding silent
SCGB1D1ENSG00000168515ENST00000306238p.T11Tc.33G>ASubstitution - coding silent
ENST00000265969_v68p.T241Rc.722C>GSubstitution - Missense
MAPK8IP3ENSG00000138834ENST00000250894p.V699Vc.2097G>TSubstitution - coding silent
FBXO3ENSG00000110429ENST00000265651p.?c.474-5C>TUnknown
PRAMEF12ENSG00000116726ENST00000357726p.R441Rc.1323G>ASubstitution - coding silent
ENST00000322367p.Y749*c.2247C>GSubstitution - Nonsense
SMCO2ENSG00000165935ENST00000416383p.D45Vc.134A>TSubstitution - Missense
PRCPENSG00000137509ENST00000313010p.W187Lc.560G>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.D911Dc.2733C>TSubstitution - coding silent
RIMBP2ENSG00000060709ENST00000261655p.G219Vc.656G>TSubstitution - Missense
NPBWR1ENSG00000183729ENST00000331251p.T271Nc.812C>ASubstitution - Missense
DNAAF1ENSG00000154099ENST00000378553p.I49Tc.146T>CSubstitution - Missense
ST18ENSG00000147488ENST00000276480p.G416Ec.1247G>ASubstitution - Missense
SNTG1ENSG00000147481ENST00000518864p.?c.322-1G>CUnknown
ATP2C2ENSG00000064270ENST00000262429p.G526Gc.1578G>TSubstitution - coding silent
FRMPD3ENSG00000147234ENST00000276185p.A1305Sc.3913G>TSubstitution - Missense
ZNF763ENSG00000197054ENST00000343949p.P160Hc.479C>ASubstitution - Missense
KIAA0753ENSG00000198920ENST00000361413p.P3Lc.8C>TSubstitution - Missense
ENST00000273612p.S517Gc.1549A>GSubstitution - Missense
IFNGR2ENSG00000159128ENST00000290219p.I223Vc.667A>GSubstitution - Missense
UGT2B11ENSG00000213759ENST00000446444p.I196Lc.586A>CSubstitution - Missense
FASTKD5ENSG00000215251ENST00000380266p.A447Tc.1339G>ASubstitution - Missense
KCNH8ENSG00000183960ENST00000328405p.C1011*c.3033C>ASubstitution - Nonsense
MORC1ENSG00000114487ENST00000232603p.R895Gc.2683A>GSubstitution - Missense
CES2ENSG00000172831ENST00000317091p.G591Vc.1772G>TSubstitution - Missense
ZNF620ENSG00000177842ENST00000314529p.R148Sc.444G>TSubstitution - Missense
CCDC14ENSG00000175455ENST00000433542p.Q336Hc.1008G>TSubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.P41Lc.122C>TSubstitution - Missense
NCF1ENSG00000158517ENST00000289473p.H51Lc.152A>TSubstitution - Missense
BFSP2ENSG00000170819ENST00000302334p.S414Rc.1242C>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000403394p.Q354Hc.1062G>TSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.F89Ic.265T>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.T630Mc.1889C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.E3222*c.9664G>TSubstitution - Nonsense
SETXENSG00000107290ENST00000372169p.R1010Hc.3029G>ASubstitution - Missense
PLAAENSG00000137055ENST00000397292p.W374Cc.1122G>TSubstitution - Missense
CDC14BENSG00000081377ENST00000265659p.N70Kc.210T>GSubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.E1300*c.3898G>TSubstitution - Nonsense
ATP11CENSG00000101974ENST00000370543p.L921Fc.2763G>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.P745Ac.2233C>GSubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.K1125Nc.3375G>TSubstitution - Missense
HEPHENSG00000089472ENST00000519389p.H1059Hc.3177T>CSubstitution - coding silent
HDAC8ENSG00000147099ENST00000373561p.?c.551-2A>CUnknown
MAP3K15ENSG00000180815ENST00000338883p.A628Vc.1883C>TSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.P877Hc.2630C>ASubstitution - Missense
POLR3AENSG00000148606ENST00000372371p.L716Lc.2148G>ASubstitution - coding silent
HOXC13ENSG00000123364ENST00000243056p.P186Hc.557C>ASubstitution - Missense
SLC4A8ENSG00000050438ENST00000453097p.A935Gc.2804C>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.S3436Yc.10307C>ASubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.A444Sc.1330G>TSubstitution - Missense
CARNS1ENSG00000172508ENST00000307823p.A20Pc.58G>CSubstitution - Missense
N4BP2L2ENSG00000244754ENST00000399396p.H362Lc.1085A>TSubstitution - Missense
COL17A1ENSG00000065618ENST00000353479p.P569Rc.1706C>GSubstitution - Missense
TBX5ENSG00000089225ENST00000526441p.K226Nc.678G>CSubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.?c.2761-5G>TUnknown
KCNA4ENSG00000182255ENST00000328224p.E574Ec.1722G>ASubstitution - coding silent
TRPC6ENSG00000137672ENST00000344327p.A543Sc.1627G>TSubstitution - Missense
GPR133ENSG00000111452ENST00000261654p.R150Rc.448C>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000402845p.I634Ic.1902C>ASubstitution - coding silent
SPATA7ENSG00000042317ENST00000393545p.G127Gc.381C>GSubstitution - coding silent
NAB1ENSG00000138386ENST00000409581p.A3Ac.9G>TSubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000307431p.G417fs*6c.1246delGDeletion - Frameshift
MUC16ENSG00000181143ENST00000397910p.?c.39014-9C>AUnknown
TCEAL5ENSG00000204065ENST00000372680p.A103Ac.309C>ASubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.G298Ac.893G>CSubstitution - Missense
ANKRD18BENSG00000230453ENST00000290943p.R9Gc.25A>GSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.T1153Ic.3458C>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.N774Kc.2322C>ASubstitution - Missense
MX2ENSG00000183486ENST00000330714p.R406Cc.1216C>TSubstitution - Missense
CDH2ENSG00000170558ENST00000269141p.G361Vc.1082G>TSubstitution - Missense
RGS9ENSG00000108370ENST00000262406p.E422Vc.1265A>TSubstitution - Missense
KRT26ENSG00000186393ENST00000335552p.D92Ec.276C>ASubstitution - Missense
UGT2B11ENSG00000213759ENST00000446444p.F397Lc.1191T>GSubstitution - Missense
ERVW-1ENSG00000242950ENST00000493463p.G339Sc.1015G>ASubstitution - Missense
SLC17A4ENSG00000146039ENST00000377905p.V475Fc.1423G>TSubstitution - Missense
SERPINB12ENSG00000166634ENST00000269491p.A215Gc.644C>GSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.G749Ac.2246G>CSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.?c.2695+2T>CUnknown
ZNF668ENSG00000167394ENST00000539836p.R151Lc.452G>TSubstitution - Missense
ACAA1ENSG00000060971ENST00000333167p.R289Lc.866G>TSubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.N229Sc.686A>GSubstitution - Missense
ENST00000405167p.S1879Fc.5636C>TSubstitution - Missense
SCAF8ENSG00000213079ENST00000367178p.?c.31-5A>GUnknown
ZNF860ENSG00000197385ENST00000360311p.R446*c.1336C>TSubstitution - Nonsense
ROPN1LENSG00000145491ENST00000274134p.L78Lc.234C>GSubstitution - coding silent
NM_004389.1p.A466Dc.1397C>ASubstitution - Missense
ENST00000381114p.E781Qc.2341G>CSubstitution - Missense
RELNENSG00000189056ENST00000343529p.V1997fs*17c.5989delGDeletion - Frameshift
FZD9ENSG00000188763ENST00000344575p.I448Ic.1344C>ASubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.V4364Ec.13091T>ASubstitution - Missense
RUVBL1ENSG00000175792ENST00000322623p.?c.229-3T>CUnknown
SCG2ENSG00000171951ENST00000305409p.P479Pc.1437C>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.W379Lc.1136G>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000369138p.Q339Kc.1015C>ASubstitution - Missense
SETXENSG00000107290ENST00000224140p.R1010Hc.3029G>ASubstitution - Missense
CTXN3ENSG00000205279ENST00000395322p.V32Vc.96T>GSubstitution - coding silent
CCDC64ENSG00000135127ENST00000257583p.V79Lc.235G>CSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.A134Gc.401C>GSubstitution - Missense
ACVRL1ENSG00000139567ENST00000550683p.L167Lc.501G>TSubstitution - coding silent
ANO6ENSG00000177119ENST00000441606p.Y458Cc.1373A>GSubstitution - Missense
NEDD1ENSG00000139350ENST00000557644p.E549Ec.1647A>GSubstitution - coding silent
GRIP1ENSG00000155974ENST00000359742p.L56Lc.168G>ASubstitution - coding silent
BEST3ENSG00000127325ENST00000331471p.L242Hc.725T>ASubstitution - Missense
C1orf159ENSG00000131591ENST00000448924p.R358Qc.1073G>ASubstitution - Missense
KIAA0226LENSG00000102445ENST00000378797p.S329Tc.986G>CSubstitution - Missense
UGGT2ENSG00000102595ENST00000397618p.A237Pc.709G>CSubstitution - Missense
AKNAD1ENSG00000162641ENST00000357393p.H227Lc.680A>TSubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.A1566Ac.4698G>ASubstitution - coding silent
PADI2ENSG00000117115ENST00000375486p.P482Pc.1446C>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.S4147Rc.12441C>ASubstitution - Missense
LCKENSG00000182866ENST00000333070p.V28Vc.84C>TSubstitution - coding silent
ZNF496ENSG00000162714ENST00000366498p.V316Fc.946G>TSubstitution - Missense
DNAJC6ENSG00000116675ENST00000371069p.V925Vc.2775G>TSubstitution - coding silent
RTL1ENSG00000254656ENST00000534062p.Q637Hc.1911G>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.S1221Ic.3662G>TSubstitution - Missense
BCAR3ENSG00000137936ENST00000370247p.?c.760+10G>TUnknown
BUB1BENSG00000156970ENST00000412359p.S398Gc.1192A>GSubstitution - Missense
KNSTRNENSG00000128944ENST00000416151p.G98Cc.292G>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.G673Wc.2017G>TSubstitution - Missense
BAIAP3ENSG00000007516ENST00000397488p.L845Lc.2535G>TSubstitution - coding silent
C16orf45ENSG00000166780ENST00000452191p.L135Lc.405G>CSubstitution - coding silent
TTC23ENSG00000103852ENST00000394130p.R225Sc.673C>ASubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.K872*c.2614A>TSubstitution - Nonsense
DCCENSG00000187323ENST00000412726p.V127Vc.381C>GSubstitution - coding silent
CABLES1ENSG00000134508ENST00000420687p.E264Ec.792G>ASubstitution - coding silent
TSHZ1ENSG00000179981ENST00000580243p.P545Rc.1634C>GSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.P424Tc.1270C>ASubstitution - Missense
PLTPENSG00000100979ENST00000542937p.H317Nc.949C>ASubstitution - Missense
NFATC2ENSG00000101096ENST00000371564p.Q805Hc.2415G>TSubstitution - Missense
EDN3ENSG00000124205ENST00000395654p.L218Hc.653T>ASubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.?c.486+6G>TUnknown
OSBPL6ENSG00000079156ENST00000315022p.S620Wc.1859C>GSubstitution - Missense
ABCA12ENSG00000144452ENST00000389661p.?c.108-2A>TUnknown
MYT1LENSG00000186487ENST00000428368p.E645Vc.1934A>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.T389Tc.1167A>TSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000361291p.A499Dc.1496C>ASubstitution - Missense
PEX5LENSG00000114757ENST00000263962p.L569Fc.1707G>TSubstitution - Missense
ENST00000421660p.G825Vc.2474G>TSubstitution - Missense
FAM86B1ENSG00000186523ENST00000321602p.L231Lc.693G>TSubstitution - coding silent
MED12LENSG00000144893ENST00000309237p.C544Yc.1631G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000480013p.G445Rc.1333G>ASubstitution - Missense
ENST00000338970_v70p.?c.354+6A>GUnknown
CCDC12ENSG00000160799ENST00000425441p.V133Vc.399G>TSubstitution - coding silent
PROM1ENSG00000007062ENST00000543373p.Y444Fc.1331A>TSubstitution - Missense
HBDENSG00000223609ENST00000380299p.G84fs*6c.251delGDeletion - Frameshift
ZNF788ENSG00000214189ENST00000397759p.?c.1_342del342Unknown
HKR1ENSG00000181666ENST00000392153p.T37fs*6c.107delGDeletion - Frameshift
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQQc.912_913ins18Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQQc.891_892ins18Insertion - In frame
ZFHX4ENSG00000091656ENST00000050961p.G2676fs*17c.8023delGDeletion - Frameshift
ENST00000544394p.S277fs*6c.825_826insAInsertion - Frameshift
LPHN3ENSG00000150471ENST00000507625p.E1397Vc.4190A>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.D283Nc.847G>ASubstitution - Missense
PPARGC1BENSG00000155846ENST00000394320p.G404Rc.1210G>ASubstitution - Missense
SCAF8ENSG00000213079ENST00000367186p.?c.229-5A>GUnknown
ENST00000354576p.R179Rc.535A>CSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.P3298Sc.9892C>TSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.G91Vc.272G>TSubstitution - Missense
ENST00000328843_v70p.L3950Mc.11848C>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.E1576Kc.4726G>ASubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.H518Lc.1553A>TSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.P1015fs*12c.3041delGDeletion - Frameshift
LRP2ENSG00000081479ENST00000263816p.?c.10393+6T>AUnknown
TMEM71ENSG00000165071ENST00000377901p.A185Ec.554C>ASubstitution - Missense
MYCENSG00000136997ENST00000377970p.C357Rc.1069T>CSubstitution - Missense
NM_002467.2p.C342Rc.1024T>CSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.R459Rc.1375C>ASubstitution - coding silent
KHDRBS3ENSG00000131773ENST00000355849p.G227Ec.680G>ASubstitution - Missense
TNCENSG00000041982ENST00000350763p.R446Gc.1336C>GSubstitution - Missense
TYRP1ENSG00000107165ENST00000388918p.R73fs*56c.215delCDeletion - Frameshift
SPTAN1ENSG00000197694ENST00000372731p.R1765Cc.5293C>TSubstitution - Missense
VWA5B2ENSG00000145198ENST00000426955p.P1024fs*148c.3069delADeletion - Frameshift
YEATS2ENSG00000163872ENST00000305135p.G825Vc.2474G>TSubstitution - Missense
KCNH8ENSG00000183960ENST00000328405p.G157Vc.470G>TSubstitution - Missense
LRRC15ENSG00000172061ENST00000439944p.V465Vc.1395C>ASubstitution - coding silent
BCL6ENSG00000113916ENST00000406870p.R678Rc.2034C>GSubstitution - coding silent
TP63ENSG00000073282ENST00000264731p.G349fs*8c.1040_1041insCInsertion - Frameshift
TBCCD1ENSG00000113838ENST00000338733p.F251Lc.753C>GSubstitution - Missense
DNAJB11ENSG00000090520ENST00000538831p.Y13Hc.37T>CSubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.Y453Fc.1358A>TSubstitution - Missense
CLCN3ENSG00000109572ENST00000347613p.R184Sc.552G>TSubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.R535Hc.1604G>ASubstitution - Missense
STK10ENSG00000072786ENST00000176763p.K554Tc.1661A>CSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.?c.1295+5G>AUnknown
TSPAN17ENSG00000048140ENST00000508164p.?c.139-10C>TUnknown
HSPB3ENSG00000169271ENST00000302005p.V43Vc.129G>TSubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.H72Pc.215A>CSubstitution - Missense
ISL1ENSG00000016082ENST00000230658p.P146Pc.438G>ASubstitution - coding silent
CLK4ENSG00000113240ENST00000316308p.M181Ic.543G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000340635p.S754Gc.2260A>GSubstitution - Missense
PDE4DENSG00000113448ENST00000503258p.S624Gc.1870A>GSubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.S618Gc.1852A>GSubstitution - Missense
ZSWIM6ENSG00000130449ENST00000252744p.?c.1514-8A>GUnknown
HLA-DQB2ENSG00000232629ENST00000411527p.S129Fc.386C>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.?c.737-7C>TUnknown
ITPR3ENSG00000096433ENST00000374316p.G1864Gc.5592C>TSubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.R2401Wc.7201C>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.R2401Wc.7201C>TSubstitution - Missense
VPS52ENSG00000223501ENST00000445902p.K329Kc.987G>ASubstitution - coding silent
IL17FENSG00000112116ENST00000336123p.K13Mc.38A>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.G2308Vc.6923G>TSubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.*814*c.2441G>ASubstitution - coding silent
NUDT5ENSG00000165609ENST00000378937p.L186Fc.558A>TSubstitution - Missense
ENST00000455773p.A242Ac.726A>TSubstitution - coding silent
CDH23ENSG00000107736ENST00000299366p.T32Nc.95C>ASubstitution - Missense
EXOC6ENSG00000138190ENST00000371547p.P502Sc.1504C>TSubstitution - Missense
HYOU1ENSG00000149428ENST00000543287p.?c.235+3G>TUnknown
SLIT1ENSG00000187122ENST00000371041p.N215Kc.645C>ASubstitution - Missense
OR4C11ENSG00000172188ENST00000302231p.L53Lc.159A>TSubstitution - coding silent
OR51A7ENSG00000176895ENST00000359350p.S7Cc.20C>GSubstitution - Missense
OR51G1ENSG00000176879ENST00000321961p.L157Lc.471C>ASubstitution - coding silent
OR5AR1ENSG00000172459ENST00000302969p.G72Sc.214G>ASubstitution - Missense
OR9G4ENSG00000172457ENST00000302957p.A196Sc.586G>TSubstitution - Missense
OR5AK2ENSG00000181273ENST00000326855p.Y132Cc.395A>GSubstitution - Missense
OR8K1ENSG00000150261ENST00000279783p.V161Mc.481G>ASubstitution - Missense
OR5R1ENSG00000174942ENST00000312253p.P129Ac.385C>GSubstitution - Missense
ENST00000331596p.Y65*c.195C>ASubstitution - Nonsense
OR8H3ENSG00000181761ENST00000313472p.A125Vc.374C>TSubstitution - Missense
GIT2ENSG00000139436ENST00000343646p.E147Qc.439G>CSubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.?c.62-1G>AUnknown
RIMBP2ENSG00000060709ENST00000536002p.L254Mc.760C>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.?c.2332-2A>TUnknown
EP400ENSG00000183495ENST00000333577p.V2345Vc.7035G>ASubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.P3116Pc.9348G>TSubstitution - coding silent
MCF2ENSG00000101977ENST00000370576p.?c.1490+1G>TUnknown
ATP11CENSG00000101974ENST00000327569p.L921Fc.2763G>TSubstitution - Missense
ATP11CENSG00000101974ENST00000361648p.L921Fc.2763G>TSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.T1685Sc.5053A>TSubstitution - Missense
NM_021990p.?c.225-4C>TUnknown
MAGEA10ENSG00000124260ENST00000370323p.P196Hc.587C>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.?c.799-10G>TUnknown
CDC23ENSG00000094880ENST00000394886p.D293Yc.877G>TSubstitution - Missense
PCDHA6ENSG00000081842ENST00000529310p.S668Sc.2004G>ASubstitution - coding silent
ENST00000289630p.S668Sc.2004G>ASubstitution - coding silent
PCDHA1ENSG00000204970ENST00000504120p.L222Pc.665T>CSubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.L504Pc.1511T>CSubstitution - Missense
ENST00000378129p.L504Pc.1511T>CSubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.A160Gc.479C>GSubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.S569Sc.1707C>GSubstitution - coding silent
PCDHB13ENSG00000187372ENST00000341948p.A448Tc.1342G>ASubstitution - Missense
PCDHB14ENSG00000120327ENST00000239449p.G326Cc.976G>TSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.P676Pc.2028G>CSubstitution - coding silent
EBF1ENSG00000164330ENST00000313708p.S483Sc.1449C>ASubstitution - coding silent
ITKENSG00000113263ENST00000422843p.R111Sc.333G>TSubstitution - Missense
SCAND3ENSG00000232040ENST00000452236p.E556Kc.1666G>ASubstitution - Missense
HIST1H4JENSG00000197238ENST00000355057p.T81Tc.243G>TSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.S48Tc.142T>ASubstitution - Missense
ENST00000364810p.R58Cc.172C>TSubstitution - Missense
ENST00000539307p.T224Kc.671C>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.T187Kc.560C>ASubstitution - Missense
PSORS1C1ENSG00000204540ENST00000259881p.D77Yc.229G>TSubstitution - Missense
HBP1ENSG00000105856ENST00000222574p.Q454Rc.1361A>GSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.R681Sc.2043G>TSubstitution - Missense
NOBOXENSG00000106410ENST00000467773p.?c.1774+5G>CUnknown
NOBOXENSG00000106410ENST00000467773p.R302Sc.904C>ASubstitution - Missense
NOBOXENSG00000106410ENST00000223140p.R302Sc.904C>ASubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.D879Gc.2636A>GSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.T1228Tc.3684C>TSubstitution - coding silent
OR9A2ENSG00000179468ENST00000350513p.I25Fc.73A>TSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.W203Lc.608G>TSubstitution - Missense
ZNF467ENSG00000181444ENST00000302017p.T556Ac.1666A>GSubstitution - Missense
SEPT14ENSG00000154997ENST00000388975p.H159Qc.477C>GSubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.M818Ic.2454G>ASubstitution - Missense
PMFBP1ENSG00000118557ENST00000237353p.N422Kc.1266C>ASubstitution - Missense
MBD3ENSG00000071655ENST00000156825p.P284Pc.852G>TSubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.V1092Vc.3276C>GSubstitution - coding silent
PSG6ENSG00000170848ENST00000292125p.T324Ic.971C>TSubstitution - Missense
CDH22ENSG00000149654ENST00000372262p.?c.839-9C>GUnknown
ARHGAP15ENSG00000075884ENST00000295095p.L438Ic.1312C>ASubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.D717Yc.2149G>TSubstitution - Missense
PREX1ENSG00000124126ENST00000396220p.D717Yc.2149G>TSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.S63Cc.188C>GSubstitution - Missense
GALNT13ENSG00000144278ENST00000409237p.N364Kc.1092C>ASubstitution - Missense
RESTENSG00000084093ENST00000309042p.G1016Gc.3048A>TSubstitution - coding silent
LNX1ENSG00000072201ENST00000306888p.L194Lc.582G>TSubstitution - coding silent
MFSD7ENSG00000169026ENST00000322224p.M169Ic.507G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.D215Nc.643G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.E1338Vc.4013A>TSubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.A766Ac.2298A>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000404039p.A702Ac.2106A>TSubstitution - coding silent
ITGB8ENSG00000105855ENST00000222573p.R604Gc.1810A>GSubstitution - Missense
FERD3LENSG00000146618ENST00000275461p.E59Dc.177G>TSubstitution - Missense
SLC7A4ENSG00000099960ENST00000382932p.A401Ac.1203C>ASubstitution - coding silent
TOP3BENSG00000100038ENST00000357179p.E465*c.1393G>TSubstitution - Nonsense
KCNH7ENSG00000184611ENST00000328032p.A479Ac.1437C>TSubstitution - coding silent
KCNH7ENSG00000184611ENST00000332142p.A486Ac.1458C>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.V3540Vc.10620G>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000409728p.C447Fc.1340G>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.R554Wc.1660A>TSubstitution - Missense
DSTENSG00000151914ENST00000370765p.R554Wc.1660A>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.R880Wc.2638A>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.?c.12028-1G>TUnknown
DSTENSG00000151914ENST00000370769p.?c.19270-1G>TUnknown
COL9A1ENSG00000112280ENST00000370499p.?c.337-1A>GUnknown
FAM135AENSG00000082269ENST00000370479p.F46Ic.136T>ASubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.V1310Lc.3928G>TSubstitution - Missense
EXOC2ENSG00000112685ENST00000230449p.R263Gc.787C>GSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.L826fs*2c.2475delGDeletion - Frameshift
CSMD3ENSG00000164796ENST00000343508p.D1663Yc.4987G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.T3348Tc.10044C>ASubstitution - coding silent
HAS2ENSG00000170961ENST00000303924p.Q278Hc.834G>TSubstitution - Missense
HAS2ENSG00000170961ENST00000303924p.G202Rc.604G>ASubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.K1178Nc.3534G>TSubstitution - Missense
TNFRSF11BENSG00000164761ENST00000297350p.K366Kc.1098G>ASubstitution - coding silent
COL15A1ENSG00000204291ENST00000375001p.T587Kc.1760C>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.G990Vc.2969G>TSubstitution - Missense
ENST00000275189p.D573Dc.1719C>TSubstitution - coding silent
HSF2ENSG00000025156ENST00000368455p.?c.93+5G>TUnknown
EYA4ENSG00000112319ENST00000355167p.T204Tc.612A>TSubstitution - coding silent
EYA4ENSG00000112319ENST00000355167p.W477Gc.1429T>GSubstitution - Missense
TMEM200AENSG00000164484ENST00000392429p.R421Mc.1262G>TSubstitution - Missense
MED23ENSG00000112282ENST00000354577p.D974Yc.2920G>TSubstitution - Missense
THEMISENSG00000172673ENST00000543064p.S32Sc.96T>ASubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.P728Sc.2182C>TSubstitution - Missense
BLOC1S5ENSG00000188428ENST00000397457p.D24Yc.70G>TSubstitution - Missense
IBTKENSG00000005700ENST00000306270p.T517Ic.1550C>TSubstitution - Missense
IMPG1ENSG00000112706ENST00000369950p.E364*c.1090G>TSubstitution - Nonsense
C6orf163ENSG00000203872ENST00000388923p.*330Lc.989A>TNonstop extension
ENST00000369574p.*204Lc.611A>TNonstop extension
UFL1ENSG00000014123ENST00000369278p.R191Pc.572G>CSubstitution - Missense
TRPV1ENSG00000196689ENST00000399756p.S392Sc.1176G>TSubstitution - coding silent
TTC7AENSG00000068724ENST00000319190p.?c.1510+7G>TUnknown
LRPPRCENSG00000138095ENST00000260665p.T1113Tc.3339G>TSubstitution - coding silent
ALLCENSG00000151360ENST00000252505p.E250Kc.748G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.T437Tc.1311A>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.T437Tc.1311A>TSubstitution - coding silent
CD300LGENSG00000161649ENST00000317310p.I81Ic.243C>ASubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.K1233Ic.3698A>TSubstitution - Missense
ANKFN1ENSG00000153930ENST00000318698p.I64Rc.191T>GSubstitution - Missense
KIF2BENSG00000141200ENST00000268919p.P94Tc.280C>ASubstitution - Missense
USP32ENSG00000170832ENST00000300896p.?c.2425-2A>GUnknown
ENST00000382851p.I37Fc.109A>TSubstitution - Missense
SIENSG00000090402ENST00000264382p.P1054Tc.3160C>ASubstitution - Missense
SEC62ENSG00000008952ENST00000337002p.D320Dc.960T>CSubstitution - coding silent
MCF2L2ENSG00000053524ENST00000328913p.P560Tc.1678C>ASubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.F288Fc.864C>TSubstitution - coding silent
PCDHGB1ENSG00000254221ENST00000523390p.F288Fc.864C>TSubstitution - coding silent
ARAP3ENSG00000120318ENST00000239440p.R982Lc.2945G>TSubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.V578Vc.1734G>ASubstitution - coding silent
RORBENSG00000198963ENST00000376896p.?c.1224+4G>TUnknown
TRPM6ENSG00000119121ENST00000451710p.E1408*c.4222G>TSubstitution - Nonsense
TRAF2ENSG00000127191ENST00000536468p.?c.189-8C>TUnknown
TRAF2ENSG00000127191ENST00000359662p.?c.189-8C>TUnknown
RMI1ENSG00000178966ENST00000325875p.E323Vc.968A>TSubstitution - Missense
ENST00000346816p.?c.691+6A>TUnknown
RYR1ENSG00000196218ENST00000359596p.Y2882Nc.8644T>ASubstitution - Missense
DLL3ENSG00000090932ENST00000205143p.S560Sc.1680C>TSubstitution - coding silent
CYP2A13ENSG00000197838ENST00000330436p.V292Lc.874G>TSubstitution - Missense
CDK13ENSG00000065883ENST00000181839p.A1175Ac.3525C>ASubstitution - coding silent
AMPHENSG00000078053ENST00000356264p.G91Vc.272G>TSubstitution - Missense
SPANXN4ENSG00000189326ENST00000446864p.D87Yc.259G>TSubstitution - Missense
SPANXN3ENSG00000189252ENST00000370503p.Y55fs*6c.162_163delGTDeletion - Frameshift
JAK3ENSG00000105639ENST00000458235p.A1079Dc.3236C>ASubstitution - Missense
POU3F4ENSG00000196767ENST00000373200p.G115Vc.344G>TSubstitution - Missense
POU3F4ENSG00000196767ENST00000373200p.G115Vc.344G>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.T2007Ic.6020C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.T2007Ic.6020C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.T2007Sc.6019A>TSubstitution - Missense
ATP7AENSG00000165240ENST00000341514p.K109Nc.327G>CSubstitution - Missense
HDAC8ENSG00000147099ENST00000373573p.?c.551-2A>CUnknown
ZNF100ENSG00000197020ENST00000358296p.E517*c.1549G>TSubstitution - Nonsense
PNMAL2ENSG00000204851ENST00000599531p.N171fs*23c.512_513insAInsertion - Frameshift
ENSG00000204850ENST00000377652p.L108fs*>97c.321_322insTInsertion - Frameshift
SETD1AENSG00000099381ENST00000262519p.S338Sc.1014C>TSubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000416288p.G623Wc.1867G>TSubstitution - Missense
AMER3ENSG00000178171ENST00000321420p.S183fs*83c.540delGDeletion - Frameshift
MMP25ENSG00000008516ENST00000336577p.P247Tc.739C>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.C486Sc.1456T>ASubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.S950Lc.2849C>TSubstitution - Missense
PHLDB2ENSG00000144824ENST00000393923p.S934Lc.2801C>TSubstitution - Missense
PHLDB2ENSG00000144824ENST00000412622p.S907Lc.2720C>TSubstitution - Missense
MRPL3ENSG00000114686ENST00000264995p.R221Ic.662G>TSubstitution - Missense
GPR156ENSG00000175697ENST00000315843p.V110Lc.328G>CSubstitution - Missense
IGSF11ENSG00000144847ENST00000354673p.Q192*c.574C>TSubstitution - Nonsense
NUP210ENSG00000132182ENST00000254508p.T1137Tc.3411T>CSubstitution - coding silent
CNTN6ENSG00000134115ENST00000446702p.G798Wc.2392G>TSubstitution - Missense
PAQR9ENSG00000188582ENST00000340634p.R232Pc.695G>CSubstitution - Missense
ELMOD2ENSG00000179387ENST00000323570p.D121Nc.361G>ASubstitution - Missense
NR3C2ENSG00000151623ENST00000358102p.M453Ic.1359G>TSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.V1515Mc.4543G>ASubstitution - Missense
ASIC5ENSG00000256394ENST00000537611p.A435fs*2c.1303delGDeletion - Frameshift
GRIA2ENSG00000120251ENST00000264426p.S115Rc.345C>ASubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.D611Hc.1831G>CSubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.D611Hc.1831G>CSubstitution - Missense
CC2D2AENSG00000048342ENST00000389652p.P1341fs*7c.4021_4022insAInsertion - Frameshift
C4orf48ENSG00000243449ENST00000382878p.R129Hc.386G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.G2375Vc.7124G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.G2375Vc.7124G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.G2375Cc.7123G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.S2374Sc.7122A>TSubstitution - coding silent
SLC6A19ENSG00000174358ENST00000304460p.W581Lc.1742G>TSubstitution - Missense
CEP120ENSG00000168944ENST00000306467p.R909Mc.2726G>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000311085p.L1336Vc.4006C>GSubstitution - Missense
ACSL6ENSG00000164398ENST00000296869p.K381Nc.1143G>TSubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.K381Nc.1143G>TSubstitution - Missense
PCSK1ENSG00000175426ENST00000311106p.L22Mc.64C>ASubstitution - Missense
RTTNENSG00000176225ENST00000255674p.E1804*c.5410G>TSubstitution - Nonsense
LAMA1ENSG00000101680ENST00000389658p.E2170*c.6508G>TSubstitution - Nonsense
CDH19ENSG00000071991ENST00000262150p.W17Rc.49T>CSubstitution - Missense
TMX3ENSG00000166479ENST00000299608p.D284Yc.850G>TSubstitution - Missense
SERPINB11ENSG00000206072ENST00000544088p.C124Rc.370T>CSubstitution - Missense
SERPINB11ENSG00000206072ENST00000544088p.C124Fc.371G>TSubstitution - Missense
ZNF407ENSG00000215421ENST00000582337p.P44Rc.131C>GSubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.P44Rc.131C>GSubstitution - Missense
GRIK2ENSG00000164418ENST00000421544p.D386Dc.1158T>CSubstitution - coding silent
GRIK2ENSG00000164418ENST00000369138p.D386Dc.1158T>CSubstitution - coding silent
GRIK2ENSG00000164418ENST00000421544p.R431Pc.1292G>CSubstitution - Missense
GRIK2ENSG00000164418ENST00000369138p.R431Pc.1292G>CSubstitution - Missense
GRIK2ENSG00000164418ENST00000318991p.R431Pc.1292G>CSubstitution - Missense
GRIK2ENSG00000164418ENST00000421544p.P667fs*8c.1997delCDeletion - Frameshift
GRIK2ENSG00000164418ENST00000318991p.P667fs*8c.1997delCDeletion - Frameshift
TNRC6BENSG00000100354ENST00000454349p.E822Kc.2464G>ASubstitution - Missense
MAKENSG00000111837ENST00000313243p.A185Tc.553G>ASubstitution - Missense
BEND3ENSG00000178409ENST00000369042p.I386Fc.1156A>TSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.D1385Vc.4154A>TSubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.V294Lc.880G>TSubstitution - Missense
SLC22A3ENSG00000146477ENST00000275300p.G445Ac.1334G>CSubstitution - Missense
PLGENSG00000122194ENST00000308192p.?c.1257-10G>CUnknown
DNAH11ENSG00000105877ENST00000328843p.L3950Mc.11848C>ASubstitution - Missense
TENSG00000164458ENST00000296946p.L46Mc.136C>ASubstitution - Missense
TENSG00000164458ENST00000296946p.V17Mc.49G>ASubstitution - Missense
MPC1ENSG00000060762ENST00000360961p.N77Kc.231C>GSubstitution - Missense
CREB5ENSG00000146592ENST00000357727p.H229Nc.685C>ASubstitution - Missense
CREB5ENSG00000146592ENST00000396298p.H90Nc.268C>ASubstitution - Missense
GPNMBENSG00000136235ENST00000381990p.V299Lc.895G>TSubstitution - Missense
SEMA3CENSG00000075223ENST00000544525p.E375Vc.1124A>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.T630Mc.1889C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.T630Mc.1889C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.T576Mc.1727C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1576Kc.4726G>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.D579Yc.1735G>TSubstitution - Missense
CTAG2ENSG00000126890ENST00000247306p.G9Gc.27G>ASubstitution - coding silent
CTAG2ENSG00000126890ENST00000369585p.G9Gc.27G>ASubstitution - coding silent
ARSHENSG00000205667ENST00000381130p.E491Vc.1472A>TSubstitution - Missense
SMSENSG00000102172ENST00000404933p.D309Nc.925G>ASubstitution - Missense
SU_SK681p.A675Vc.2024C>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.E1325Dc.3975G>TSubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.T1219Pc.3655A>CSubstitution - Missense
WDFY1ENSG00000085449ENST00000233055p.G90*c.268G>TSubstitution - Nonsense
ALPIENSG00000163295ENST00000295463p.G64Ec.191G>ASubstitution - Missense
CHRNDENSG00000135902ENST00000258385p.L132Pc.395T>CSubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.A23Sc.67G>TSubstitution - Missense
DIS3L2ENSG00000144535ENST00000325385p.T299Ac.895A>GSubstitution - Missense
DIS3L2ENSG00000144535ENST00000273009p.T299Ac.895A>GSubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.L996Lc.2988T>ASubstitution - coding silent
CCDC88AENSG00000115355ENST00000263630p.L997Lc.2991T>ASubstitution - coding silent
PSME4ENSG00000068878ENST00000404125p.L1150Fc.3450G>TSubstitution - Missense
NM_014614.1p.L1036Fc.3108G>TSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.E867Ec.2601G>ASubstitution - coding silent
CCDC14ENSG00000175455ENST00000310351p.Q217Hc.651G>TSubstitution - Missense
KALRNENSG00000160145ENST00000240874p.R257fs*70c.768delCDeletion - Frameshift
KALRNENSG00000160145ENST00000360013p.R257fs*70c.768delCDeletion - Frameshift
IQSEC1ENSG00000144711ENST00000429247p.Q444Pc.1331A>CSubstitution - Missense
PNPLA3ENSG00000100344ENST00000216180p.K92Kc.276G>ASubstitution - coding silent
SBF1ENSG00000100241ENST00000390679p.C630Cc.1890C>TSubstitution - coding silent
CD180ENSG00000134061ENST00000256447p.T135Kc.404C>ASubstitution - Missense
ENST00000315574p.N75Ic.224A>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.T338Tc.1014C>TSubstitution - coding silent
FAM169AENSG00000198780ENST00000389156p.?c.1104-1G>TUnknown
CMYA5ENSG00000164309ENST00000446378p.P846Ac.2536C>GSubstitution - Missense
ENST00000238522p.P846Ac.2536C>GSubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.?c.2459-3C>AUnknown
MDGA1ENSG00000112139ENST00000434837p.V386Vc.1158G>TSubstitution - coding silent
BTBD9ENSG00000183826ENST00000403056p.P600Qc.1799C>ASubstitution - Missense
ARMC12ENSG00000157343ENST00000288065p.R352Lc.1055G>TSubstitution - Missense
MDFIENSG00000112559ENST00000373051p.?c.259+4A>TUnknown
NM_001371.1p.I1056delIc.3162_3164delTATDeletion - In frame
PTCRAENSG00000171611ENST00000304672p.V46Vc.138C>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.P3155Sc.9463C>TSubstitution - Missense
PMS2ENSG00000122512ENST00000265849p.H88Yc.262C>TSubstitution - Missense
ENST00000419043p.L262Lc.786G>TSubstitution - coding silent
CLIP2ENSG00000106665ENST00000223398p.S899Sc.2697C>TSubstitution - coding silent
FREM1ENSG00000164946ENST00000380894p.?c.668-8T>CUnknown
FREM1ENSG00000164946ENST00000422223p.?c.5060-8T>CUnknown
ENST00000324457p.?c.299-8T>CUnknown
NM_152574.1p.L79*c.236T>GSubstitution - Nonsense
FREM1ENSG00000164946ENST00000380894p.I509Lc.1525A>CSubstitution - Missense
TROENSG00000067445ENST00000173898p.T1275Ic.3824C>TSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.W379Cc.1137G>TSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.W379Cc.1137G>TSubstitution - Missense
TCEA2ENSG00000171703ENST00000343484p.D203Yc.607G>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.A649Sc.1945G>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.C1786*c.5358T>ASubstitution - Nonsense
PLB1ENSG00000163803ENST00000422425p.D748Nc.2242G>ASubstitution - Missense
LCLAT1ENSG00000172954ENST00000309052p.I290Ic.870A>TSubstitution - coding silent
HEATR5BENSG00000008869ENST00000233099p.L469fs*33c.1405_1415del11Deletion - Frameshift
NRROSENSG00000174004ENST00000328557p.S353Sc.1059C>TSubstitution - coding silent
MFI2ENSG00000163975ENST00000296350p.?c.1310_1330+1del22Unknown
COL8A1ENSG00000144810ENST00000273342p.L8Qc.23T>ASubstitution - Missense
SU_EPHA6p.G447Cc.1339G>TSubstitution - Missense
ENST00000338994p.G447Cc.1339G>TSubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.?c.2387-6T>AUnknown
SU_EPHA6p.?c.2105-6T>AUnknown
SLC39A8ENSG00000138821ENST00000356736p.?c.676-4A>GUnknown
TBCKENSG00000145348ENST00000273980p.W329fs*7c.982_983insTInsertion - Frameshift
ZNF518BENSG00000178163ENST00000326756p.V853Vc.2559C>TSubstitution - coding silent
GAKENSG00000178950ENST00000314167p.R712Wc.2134A>TSubstitution - Missense
MAPK10ENSG00000109339ENST00000359221p.E425*c.1273G>TSubstitution - Nonsense
DSPPENSG00000152591ENST00000399271p.Q297Kc.889C>ASubstitution - Missense
TRMT44ENSG00000155275ENST00000513449p.E67Dc.201A>TSubstitution - Missense
WRNENSG00000165392ENST00000298139p.M930Ic.2790G>TSubstitution - Missense
WRNENSG00000165392ENST00000298139p.G931Vc.2792G>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.V1081Vc.3243T>ASubstitution - coding silent
ZNF81ENSG00000197779ENST00000376954p.R104Kc.311G>ASubstitution - Missense
NM_007137.1p.R104Kc.311G>ASubstitution - Missense
BMP15ENSG00000130385ENST00000252677p.L332Lc.996C>ASubstitution - coding silent
CCNB3ENSG00000147082ENST00000376042p.L53Ic.157C>ASubstitution - Missense
WDR13ENSG00000101940ENST00000218056p.A159Sc.475G>TSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.E628Kc.1882G>ASubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.E628Kc.1882G>ASubstitution - Missense
TTYH2ENSG00000141540ENST00000269346p.D38Ec.114C>ASubstitution - Missense
RNMTL1ENSG00000171861ENST00000304478p.L165fs*4c.491_492insTCAGInsertion - Frameshift
C17orf74ENSG00000184560ENST00000333870p.Q143Kc.427C>ASubstitution - Missense
NPAS2ENSG00000170485ENST00000542504p.P807Rc.2420C>GSubstitution - Missense
NM_145686p.L233Vc.697C>GSubstitution - Missense
CLASP2ENSG00000163539ENST00000539981p.G430Rc.1288G>ASubstitution - Missense
OSBPL10ENSG00000144645ENST00000396556p.H535Yc.1603C>TSubstitution - Missense
VILLENSG00000136059ENST00000283713p.L591Vc.1771C>GSubstitution - Missense
MAN2A1ENSG00000112893ENST00000261483p.Q900Lc.2699A>TSubstitution - Missense
ST8SIA4ENSG00000113532ENST00000231461p.V68Ec.203T>ASubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.V898Lc.2692G>TSubstitution - Missense
CCDC79ENSG00000249961ENST00000433154p.T325Sc.973A>TSubstitution - Missense
CNGB1ENSG00000070729ENST00000251102p.S52Yc.155C>ASubstitution - Missense
HSD11B2ENSG00000176387ENST00000326152p.R131fs*16c.385_386insCInsertion - Frameshift
P2RY14ENSG00000174944ENST00000309170p.I2Ic.6C>ASubstitution - coding silent
ENST00000273083p.P392Lc.1175C>TSubstitution - Missense
SLC33A1ENSG00000169359ENST00000392845p.V340Lc.1018G>TSubstitution - Missense
MMEENSG00000196549ENST00000360490p.G105Sc.313G>ASubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.R925Kc.2774G>ASubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.N548Nc.1644C>TSubstitution - coding silent
ENPEPENSG00000138792ENST00000265162p.T842Mc.2525C>TSubstitution - Missense
ALPK1ENSG00000073331ENST00000458497p.E903Kc.2707G>ASubstitution - Missense
ADAD1ENSG00000164113ENST00000296513p.K156Nc.468A>TSubstitution - Missense
IL21ENSG00000138684ENST00000264497p.F136Lc.408C>ASubstitution - Missense
NPR3ENSG00000113389ENST00000265074p.?c.1196-6C>GUnknown
RXFP3ENSG00000182631ENST00000330120p.S163Cc.488C>GSubstitution - Missense
RXFP3ENSG00000182631ENST00000330120p.G457Gc.1371G>TSubstitution - coding silent
KIAA1244ENSG00000112379ENST00000251691p.A1820Sc.5458G>TSubstitution - Missense
NM_020340.2p.A1749Sc.5245G>TSubstitution - Missense
FOXF2ENSG00000137273ENST00000259806p.L220Lc.660G>CSubstitution - coding silent
CCDC28AENSG00000024862ENST00000332797p.A22Ac.66A>GSubstitution - coding silent
ZFRENSG00000056097ENST00000265069p.A173Ac.519C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.D1480Dc.4440C>TSubstitution - coding silent
PACRGENSG00000112530ENST00000337019p.R128Lc.383G>TSubstitution - Missense
KPNA7ENSG00000185467ENST00000327442p.L226Lc.676C>TSubstitution - coding silent
KPNA7ENSG00000185467ENST00000327442p.V170Vc.510G>TSubstitution - coding silent
ZSCAN25ENSG00000197037ENST00000394152p.R503Lc.1508G>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.E3249*c.9745G>TSubstitution - Nonsense
PLECENSG00000178209ENST00000354958p.E3200*c.9598G>TSubstitution - Nonsense
PARP10ENSG00000178685ENST00000313028p.?c.1777+2T>AUnknown
SLCO5A1ENSG00000137571ENST00000260126p.?c.2024+1G>TUnknown
TUSC3ENSG00000104723ENST00000503731p.R312Pc.935G>CSubstitution - Missense
TUSC3ENSG00000104723ENST00000382020p.R312Pc.935G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.G2721fs*17c.8158delGDeletion - Frameshift
EYA1ENSG00000104313ENST00000388742p.P93Tc.277C>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.L789Rc.2366T>GSubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.L511Rc.1532T>GSubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.E744Qc.2230G>CSubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.E724Qc.2170G>CSubstitution - Missense
SLC14A1ENSG00000141469ENST00000436407p.L165Fc.495G>TSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.P607Lc.1820C>TSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.L1226Lc.3678C>TSubstitution - coding silent
SEC11CENSG00000166562ENST00000299714p.G92Rc.274G>CSubstitution - Missense
PIEZO2ENSG00000154864ENST00000302079p.T396Ic.1187C>TSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.?c.1159-10C>TUnknown
KIR3DL2ENSG00000240403ENST00000326321p.?c.1159-8C>TUnknown
CABLES1ENSG00000134508ENST00000256925p.E529Ec.1587G>ASubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000391728p.M252Ic.756G>TSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.D560Dc.1680C>TSubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.D560Dc.1680C>TSubstitution - coding silent
NINLENSG00000101004ENST00000278886p.R404Mc.1211G>TSubstitution - Missense
BPIFB2ENSG00000078898ENST00000170150p.E310*c.928G>TSubstitution - Nonsense
ENSG00000088899ENST00000329152p.M291Ic.873G>TSubstitution - Missense
ZDHHC8ENSG00000099904ENST00000405930p.S391Nc.1172G>ASubstitution - Missense
TUBA8ENSG00000183785ENST00000330423p.A99Ec.296C>ASubstitution - Missense
NM_007023.1p.V765Vc.2295G>TSubstitution - coding silent
HAT1ENSG00000128708ENST00000264108p.?c.824-6A>GUnknown
TTNENSG00000155657ENST00000342992p.D31110Hc.93328G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.D24738Hc.74212G>CSubstitution - Missense
ENST00000356127p.D31108Hc.93322G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.D24805Hc.74413G>CSubstitution - Missense
NM_003319p.D24613Hc.73837G>CSubstitution - Missense
OSBPL6ENSG00000079156ENST00000392505p.S641Wc.1922C>GSubstitution - Missense
PLEKHA3ENSG00000116095ENST00000234453p.R239Lc.716G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Y22218fs*5c.66652delTDeletion - Frameshift
TTNENSG00000155657ENST00000342175p.Y15913fs*5c.47737delTDeletion - Frameshift
NM_003319p.Y15721fs*5c.47161delTDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.R22133Rc.66397A>CSubstitution - coding silent
ENST00000356127p.R22131Rc.66391A>CSubstitution - coding silent
CAPN10ENSG00000142330ENST00000391984p.A447Ac.1341G>ASubstitution - coding silent
EMILIN1ENSG00000138080ENST00000380320p.S918Nc.2753G>ASubstitution - Missense
CADENSG00000084774ENST00000264705p.V83Lc.247G>TSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.?c.1615-9C>GUnknown
DZIP3ENSG00000198919ENST00000361582p.V682Vc.2046A>GSubstitution - coding silent
ITGAMENSG00000169896ENST00000287497p.R236Rc.706C>ASubstitution - coding silent
ITGAMENSG00000169896ENST00000287497p.K1016Mc.3047A>TSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.Q55fs*3c.158delCDeletion - Frameshift
ARMC5ENSG00000140691ENST00000408912p.W896Cc.2688G>TSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.G2105Cc.6313G>TSubstitution - Missense
CA5AENSG00000174990ENST00000309893p.V252fs*25c.753delCDeletion - Frameshift
TMEM220ENSG00000187824ENST00000341871p.W152Gc.454T>GSubstitution - Missense
ZNF880ENSG00000221923ENST00000422689p.I261Tc.782T>CSubstitution - Missense
ZNF611ENSG00000213020ENST00000319783p.K72Nc.216G>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000457749p.G529Cc.1585G>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000438150p.G476Cc.1426G>TSubstitution - Missense
ZNF600ENSG00000189190ENST00000360272p.G476Cc.1426G>TSubstitution - Missense
COL9A3ENSG00000092758ENST00000343916p.R524Lc.1571G>TSubstitution - Missense
VSTM1ENSG00000189068ENST00000338372p.P35Hc.104C>ASubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.M187Tc.560T>CSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.M187Tc.560T>CSubstitution - Missense
ENSG00000214999ENST00000399413p.P44Pc.132T>CSubstitution - coding silent
C17orf70ENSG00000185504ENST00000327787p.H494Hc.1482C>TSubstitution - coding silent
MEP1BENSG00000141434ENST00000269202p.I480Ic.1440C>ASubstitution - coding silent
CCDC178ENSG00000166960ENST00000300227p.A339Sc.1015G>TSubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.?c.48+8G>TUnknown
DSG3ENSG00000134757ENST00000257189p.R234Sc.700C>ASubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.H420Qc.1260C>ASubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.P181Tc.541C>ASubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.P181Tc.541C>ASubstitution - Missense
NOL4ENSG00000101746ENST00000261592p.G381Ec.1142G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.N774Kc.2322C>ASubstitution - Missense
ENSG00000188474ENST00000339302p.G220fs*26c.654_1485del832Deletion - Frameshift
ENSG00000188474ENST00000339302p.G258Gc.774G>ASubstitution - coding silent
ENST00000325084p.?c.3993-6C>TUnknown
CACNA1AENSG00000141837ENST00000360228p.?c.3990-6C>TUnknown
CALRENSG00000179218ENST00000316448p.P303Pc.909C>TSubstitution - coding silent
ZNF563ENSG00000188868ENST00000293725p.?c.191+9C>AUnknown
C2CD2ENSG00000157617ENST00000380486p.Q589*c.1765C>TSubstitution - Nonsense
BACE2ENSG00000182240ENST00000330333p.S510Sc.1530C>TSubstitution - coding silent
ENST00000360228_v70p.?c.3990-6C>TUnknown
COL6A2ENSG00000142173ENST00000300527p.R854Sc.2560C>ASubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.E661Dc.1983G>TSubstitution - Missense
NCAPHENSG00000121152ENST00000240423p.C114Yc.341G>ASubstitution - Missense
TEKT4ENSG00000163060ENST00000295201p.R380Gc.1138C>GSubstitution - Missense
ENST00000477973_v68p.?c.423+8A>GUnknown
AFPENSG00000081051ENST00000395792p.D395Hc.1183G>CSubstitution - Missense
NPFFR2ENSG00000056291ENST00000308744p.P490Tc.1468C>ASubstitution - Missense
UGT2B11ENSG00000213759ENST00000446444p.V391Ac.1172T>CSubstitution - Missense
UGT2B11ENSG00000213759ENST00000446444p.G387Gc.1161G>TSubstitution - coding silent
UGT2B11ENSG00000213759ENST00000446444p.I384Ic.1152C>ASubstitution - coding silent
CSN1S1ENSG00000126545ENST00000246891p.?c.243+8C>AUnknown
IRX5ENSG00000176842ENST00000394636p.G50Cc.148G>TSubstitution - Missense
GNAO1ENSG00000087258ENST00000262494p.N330Nc.990C>TSubstitution - coding silent
FBXL20ENSG00000108306ENST00000583610p.L404Fc.1212A>CSubstitution - Missense
IKZF3ENSG00000161405ENST00000346872p.E240*c.718G>TSubstitution - Nonsense
KRTAP9-4ENSG00000241595ENST00000334109p.P64Tc.190C>ASubstitution - Missense
KRT31ENSG00000094796ENST00000251645p.A270Sc.808G>TSubstitution - Missense
KRT31ENSG00000094796ENST00000251645p.A270Sc.808G>TSubstitution - Missense
KRT31ENSG00000094796ENST00000251645p.Q269Hc.807G>TSubstitution - Missense
KRT31ENSG00000094796ENST00000251645p.Q269Hc.807G>TSubstitution - Missense
KRTAP4-5ENSG00000198271ENST00000343246p.S59_S74>11c.174_221>33Unknown
KRTAP27-1ENSG00000206107ENST00000382835p.P82Pc.246C>ASubstitution - coding silent
KRTAP19-7ENSG00000244362ENST00000334849p.G12Vc.35G>TSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.G1960Vc.5879G>TSubstitution - Missense
WDR19ENSG00000157796ENST00000399820p.T602Tc.1806C>TSubstitution - coding silent
KCTD8ENSG00000183783ENST00000360029p.P36Tc.106C>ASubstitution - Missense
CORINENSG00000145244ENST00000273857p.S1021Nc.3062G>ASubstitution - Missense
BSNENSG00000164061ENST00000296452p.P2252Ac.6754C>GSubstitution - Missense
XM_496642.1p.D271Ac.812A>CSubstitution - Missense
SEMA3FENSG00000001617ENST00000002829p.S250Yc.749C>ASubstitution - Missense
UNC93AENSG00000112494ENST00000230256p.R388Cc.1162C>TSubstitution - Missense
KIAA0319ENSG00000137261ENST00000378214p.L354Lc.1062G>TSubstitution - coding silent
DCDC2ENSG00000146038ENST00000378450p.W4Gc.10T>GSubstitution - Missense
SVOPLENSG00000157703ENST00000419765p.L372Mc.1114C>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.?c.4653+3G>TUnknown
MGAMENSG00000257335ENST00000549489p.?c.4653+3G>TUnknown
ENSG00000257743ENST00000477922p.C1390*c.4170C>ASubstitution - Nonsense
TAS2R38ENSG00000257138ENST00000547270p.V44Lc.130G>TSubstitution - Missense
ASB4ENSG00000005981ENST00000325885p.R356Kc.1067G>ASubstitution - Missense
ERVW-1ENSG00000242950ENST00000493463p.G339Vc.1016G>TSubstitution - Missense
TRPV6ENSG00000165125ENST00000359396p.R363Wc.1087C>TSubstitution - Missense
GPIHBP1ENSG00000182851ENST00000330824p.H85Qc.255T>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.G480Vc.1439G>TSubstitution - Missense
CPA6ENSG00000165078ENST00000297770p.A305Sc.913G>TSubstitution - Missense
TRIM55ENSG00000147573ENST00000315962p.P63Pc.189C>GSubstitution - coding silent
TRIM55ENSG00000147573ENST00000276573p.P63Pc.189C>GSubstitution - coding silent
BCORL1ENSG00000085185ENST00000218147p.E1300*c.3898G>TSubstitution - Nonsense
XIAPENSG00000101966ENST00000434753p.K31Kc.93A>GSubstitution - coding silent
STAG2ENSG00000101972ENST00000371160p.W102Cc.306G>TSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.P745Ac.2233C>GSubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.S58Nc.173G>ASubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.V528Gc.1583T>GSubstitution - Missense
ACSBG2ENSG00000130377ENST00000252669p.T266Tc.798G>TSubstitution - coding silent
TLR7ENSG00000196664ENST00000380659p.C814Fc.2441G>TSubstitution - Missense
ENST00000380947p.?c.470-9C>AUnknown
CDC14BENSG00000081377ENST00000375241p.N70Kc.210T>GSubstitution - Missense
CDC14BENSG00000081377ENST00000375242p.N33Kc.99T>GSubstitution - Missense
CDC14BENSG00000081377ENST00000375240p.N70Kc.210T>GSubstitution - Missense
SLC25A53ENSG00000176274ENST00000357421p.W179Cc.537G>TSubstitution - Missense
ESX1ENSG00000123576ENST00000372588p.G288Gc.864G>CSubstitution - coding silent
GPRASP1ENSG00000198932ENST00000415986p.G581Wc.1741G>TSubstitution - Missense
NUTM2GENSG00000188152ENST00000354649p.G403Rc.1207G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.K3873Nc.11619G>TSubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>CSubstitution - coding silent
FLIIENSG00000177731ENST00000327031p.V1101Mc.3301G>ASubstitution - Missense
XM_290732.4p.G818Vc.2453G>TSubstitution - Missense
SPHK1ENSG00000176170ENST00000323374p.G395Ac.1184G>CSubstitution - Missense
ENST00000293218_v68p.?c.1600-1G>TUnknown
ZNF254ENSG00000213096ENST00000357002p.T177Pc.529A>CSubstitution - Missense
ZNF254ENSG00000213096ENST00000357002p.T177Ic.530C>TSubstitution - Missense
ENST00000428290_v65p.C511*c.1533T>ASubstitution - Nonsense
SF3A2ENSG00000104897ENST00000221494p.P234Pc.702A>TSubstitution - coding silent
SLC17A7ENSG00000104888ENST00000221485p.L59Ic.175C>ASubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.?c.1264-7C>TUnknown
EPB41L1ENSG00000088367ENST00000338074p.R163Lc.488G>TSubstitution - Missense
SAMHD1ENSG00000101347ENST00000262878p.A529Ac.1587A>GSubstitution - coding silent
GNASENSG00000087460ENST00000313949p.S207*c.620C>ASubstitution - Nonsense
ZNF831ENSG00000124203ENST00000371030p.S550Sc.1650G>TSubstitution - coding silent
EDN3ENSG00000124205ENST00000337938p.L232Hc.695T>ASubstitution - Missense
TOPORSENSG00000197579ENST00000360538p.G482Vc.1445G>TSubstitution - Missense
AKR1B10ENSG00000198074ENST00000359579p.K69Nc.207G>TSubstitution - Missense
ENST00000380086p.W317Cc.951G>TSubstitution - Missense
ARID3CENSG00000205143ENST00000378909p.P400Pc.1200C>ASubstitution - coding silent
FAM205AENSG00000205108ENST00000378788p.T1153Ic.3458C>TSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.A971Ac.2913A>CSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.A971Ac.2913A>CSubstitution - coding silent
DOK2ENSG00000147443ENST00000276420p.Q14Lc.41A>TSubstitution - Missense
KBTBD8ENSG00000163376ENST00000417314p.D148Yc.442G>TSubstitution - Missense
KBTBD8ENSG00000163376ENST00000295568p.D122Yc.364G>TSubstitution - Missense
EGR3ENSG00000179388ENST00000317216p.T51Kc.152C>ASubstitution - Missense
RAD54BENSG00000197275ENST00000336148p.P23Lc.68C>TSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000265814p.?c.1077+6A>GUnknown
RUNX1T1ENSG00000079102ENST00000360348p.?c.966+6A>GUnknown
MMP16ENSG00000156103ENST00000286614p.P308Qc.923C>ASubstitution - Missense
NBNENSG00000104320ENST00000265433p.E350Gc.1049A>GSubstitution - Missense
C9orf156ENSG00000136932ENST00000375119p.G434Vc.1301G>TSubstitution - Missense
MTDHENSG00000147649ENST00000336273p.Y47Cc.140A>GSubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.P211Ac.631C>GSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.A745Pc.2233G>CSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.A745Pc.2233G>CSubstitution - Missense
RGS9ENSG00000108370ENST00000262406p.T641Kc.1922C>ASubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.I381Vc.1141A>GSubstitution - Missense
ENSG00000214167ENST00000375684p.G168Vc.503G>TSubstitution - Missense
ERAL1ENSG00000132591ENST00000254928p.L165Lc.495A>GSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.E103*c.307G>TSubstitution - Nonsense
KSR1ENSG00000141068ENST00000319524p.L514Lc.1542C>ASubstitution - coding silent
HNRNPCL1ENSG00000179172ENST00000317869p.A182Dc.545C>ASubstitution - Missense
HNRNPCL1ENSG00000179172ENST00000317869p.G45Rc.133G>CSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.M52Tc.155T>CSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.Y55Nc.163T>ASubstitution - Missense
OR2T2ENSG00000196240ENST00000342927p.L67Lc.201C>ASubstitution - coding silent
OR2AJ1ENSG00000177275ENST00000318244p.L113Ic.337C>ASubstitution - Missense
OR2L8ENSG00000196936ENST00000357191p.G146Rc.436G>CSubstitution - Missense
OR2L5ENSG00000197454ENST00000355281p.L67Lc.201C>GSubstitution - coding silent
OR2B11ENSG00000177535ENST00000318749p.R126Lc.377G>TSubstitution - Missense
NUDCENSG00000090273ENST00000321265p.R295Qc.884G>ASubstitution - Missense
CEP85ENSG00000130695ENST00000252992p.V557Vc.1671G>TSubstitution - coding silent
LRRC40ENSG00000066557ENST00000370952p.Q359Lc.1076A>TSubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.D443Dc.1329T>CSubstitution - coding silent
DNAJC6ENSG00000116675ENST00000395325p.V868Vc.2604G>TSubstitution - coding silent
USP33ENSG00000077254ENST00000370793p.K721Rc.2162A>GSubstitution - Missense
USP33ENSG00000077254ENST00000370793p.P134Ac.400C>GSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.G798Wc.2392G>TSubstitution - Missense
NM_000957.2p.L392Mc.1174T>ASubstitution - Missense
WDR63ENSG00000162643ENST00000294664p.E869Dc.2607A>CSubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.E1241*c.3721G>TSubstitution - Nonsense
REREENSG00000142599ENST00000400908p.V1452Fc.4354G>TSubstitution - Missense
PELI2ENSG00000139946ENST00000267460p.A153Sc.457G>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.H1313Rc.3938A>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.V5565Lc.16693G>TSubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQQc.912_913ins18Insertion - In frame
RIN3ENSG00000100599ENST00000216487p.G496Cc.1486G>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.V827Ac.2480T>CSubstitution - Missense
DDX24ENSG00000089737ENST00000330836p.Q79Lc.236A>TSubstitution - Missense
NOX5ENSG00000255346ENST00000260364p.A107fs*45c.316delGDeletion - Frameshift
BCAR3ENSG00000137936ENST00000260502p.?c.1033+10G>TUnknown
ABCD3ENSG00000117528ENST00000370214p.?c.1846-1G>TUnknown
PLEKHN1ENSG00000187583ENST00000379410p.?c.331-6G>AUnknown
RASA3ENSG00000185989ENST00000334062p.H75Lc.224A>TSubstitution - Missense
TPTE2ENSG00000132958ENST00000400230p.R394Rc.1182G>TSubstitution - coding silent
TPTE2ENSG00000132958ENST00000390680p.R317Rc.951G>TSubstitution - coding silent
TMCO3ENSG00000150403ENST00000434316p.L293Lc.879G>ASubstitution - coding silent
ZMYM5ENSG00000132950ENST00000337963p.K646Kc.1938A>GSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.H2362Yc.7084C>TSubstitution - Missense
NM_014363.3p.H2215Yc.6643C>TSubstitution - Missense
THBS1ENSG00000137801ENST00000260356p.L107Lc.321G>CSubstitution - coding silent
UGT3A1ENSG00000145626ENST00000274278p.S309Yc.926C>ASubstitution - Missense
NIPBLENSG00000164190ENST00000448238p.?c.5328+9G>TUnknown
ADAT1ENSG00000065457ENST00000307921p.G275Rc.823G>CSubstitution - Missense
PLCXD3ENSG00000182836ENST00000377801p.S41Rc.123C>GSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.D1229Nc.3685G>ASubstitution - Missense
FYBENSG00000082074ENST00000351578p.I118Ic.354C>ASubstitution - coding silent
FYBENSG00000082074ENST00000512982p.I118Ic.354C>ASubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000478060p.V69Lc.205G>TSubstitution - Missense
ENST00000339740p.V69Lc.205G>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.V93Lc.277G>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.G345fs*6c.1030delGDeletion - Frameshift
SP2ENSG00000167182ENST00000376741p.L285Lc.855C>TSubstitution - coding silent
ENST00000331986p.T2747Ac.8239A>GSubstitution - Missense
EME1ENSG00000154920ENST00000338165p.S180Sc.540C>TSubstitution - coding silent
PFN1ENSG00000108518ENST00000225655p.D55Hc.163G>CSubstitution - Missense
NSFL1CENSG00000088833ENST00000216879p.G305Rc.913G>CSubstitution - Missense
SIRPDENSG00000125900ENST00000381623p.G193Gc.579C>TSubstitution - coding silent
OR7D4ENSG00000174667ENST00000308682p.*313Rc.937T>CNonstop extension
SIRPGENSG00000089012ENST00000303415p.A155Gc.464C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R494Sc.1482A>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R494Sc.1482A>CSubstitution - Missense
NM_003319p.R494Sc.1482A>CSubstitution - Missense
TTNENSG00000155657ENST00000360870p.R494Sc.1482A>CSubstitution - Missense
ZSWIM2ENSG00000163012ENST00000295131p.P494Pc.1482C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.P998Rc.2993C>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.P998Rc.2993C>GSubstitution - Missense
ENST00000417177p.P1003Rc.3008C>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.P1003Rc.3008C>GSubstitution - Missense
CCAR1ENSG00000060339ENST00000265872p.V355Lc.1063G>CSubstitution - Missense
PRKCQENSG00000065675ENST00000263125p.R680Ic.2039G>TSubstitution - Missense
PRF1ENSG00000180644ENST00000373209p.A109Sc.325G>TSubstitution - Missense
PRF1ENSG00000180644ENST00000373209p.V38Lc.112G>TSubstitution - Missense
SLC22A8ENSG00000149452ENST00000336232p.R382Rc.1144C>ASubstitution - coding silent
HRASLS5ENSG00000168004ENST00000301790p.P132Pc.396T>ASubstitution - coding silent
ECDENSG00000122882ENST00000430082p.Q581Hc.1743G>CSubstitution - Missense
ECDENSG00000122882ENST00000372979p.Q548Hc.1644G>CSubstitution - Missense
CDH23ENSG00000107736ENST00000398809p.T32Nc.95C>ASubstitution - Missense
ENST00000398860p.T32Nc.95C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.A2762Sc.8284G>TSubstitution - Missense
SCMH1ENSG00000010803ENST00000402904p.L90Lc.268C>TSubstitution - coding silent
SCMH1ENSG00000010803ENST00000337495p.L100Lc.298C>TSubstitution - coding silent
PLBD2ENSG00000151176ENST00000280800p.L540Lc.1618C>TSubstitution - coding silent
MED13LENSG00000123066ENST00000281928p.E1183Dc.3549G>TSubstitution - Missense
CITENSG00000122966ENST00000392521p.I511Vc.1531A>GSubstitution - Missense
SU_CRIKp.I512Vc.1534A>GSubstitution - Missense
CCDC64ENSG00000135127ENST00000397558p.V430Lc.1288G>CSubstitution - Missense
XM_052561.7p.R854Wc.2560C>TSubstitution - Missense
HSD3B2ENSG00000203859ENST00000369416p.R316Cc.946C>TSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.R1686Cc.5056C>TSubstitution - Missense
SLC24A5ENSG00000188467ENST00000341459p.Q287Kc.859C>ASubstitution - Missense
KLHL28ENSG00000179454ENST00000396128p.R213Lc.638G>TSubstitution - Missense
SSTR1ENSG00000139874ENST00000267377p.S144Ic.431G>TSubstitution - Missense
LRFN5ENSG00000165379ENST00000298119p.K209Nc.627G>CSubstitution - Missense
C14orf177ENSG00000176605ENST00000325812p.?c.200-7C>AUnknown
TRIM9ENSG00000100505ENST00000338969p.G480Vc.1439G>TSubstitution - Missense
TRIM9ENSG00000100505ENST00000298355p.G484Rc.1450G>CSubstitution - Missense
PTGDRENSG00000168229ENST00000306051p.S204Yc.611C>ASubstitution - Missense
ASB7ENSG00000183475ENST00000332783p.T240Tc.720G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.I604Ic.1812C>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.I604Ic.1812C>ASubstitution - coding silent
ENST00000322367p.I139Ic.417C>ASubstitution - coding silent
SOX5ENSG00000134532ENST00000451604p.T321Nc.962C>ASubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.I604Ic.1812C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.Y1234*c.3702C>GSubstitution - Nonsense
CACNA1CENSG00000151067ENST00000344100p.Y1214*c.3642C>GSubstitution - Nonsense
CACNA1CENSG00000151067ENST00000399617p.Y1214*c.3642C>GSubstitution - Nonsense
ENST00000416383_v68p.D45Vc.134A>TSubstitution - Missense
SMCO2ENSG00000165935ENST00000298876p.D45Vc.134A>TSubstitution - Missense
YARS2ENSG00000139131ENST00000324868p.R424Rc.1272A>CSubstitution - coding silent
PKP2ENSG00000057294ENST00000070846p.Q861Kc.2581C>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.H2358Qc.7074C>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.A1296Dc.3887C>ASubstitution - Missense
HCN3ENSG00000143630ENST00000368358p.R77Rc.231G>ASubstitution - coding silent
RUSC1ENSG00000160753ENST00000368354p.Y122*c.366C>ASubstitution - Nonsense
SLC45A3ENSG00000158715ENST00000367145p.L57fs*15c.170_172TGG>ATComplex - frameshift
CYP19A1ENSG00000137869ENST00000396402p.M356Ic.1068G>TSubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.R131Gc.391C>GSubstitution - Missense
FZD4ENSG00000174804ENST00000531380p.K415Rc.1244A>GSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.D1419Dc.4257C>TSubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.R22Qc.65G>ASubstitution - Missense
HCAR3ENSG00000255398ENST00000528880p.R22Qc.65G>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.P799Qc.2396C>ASubstitution - Missense
ENST00000339192p.P617Qc.1850C>ASubstitution - Missense
CLIP1ENSG00000130779ENST00000358808p.A134Gc.401C>GSubstitution - Missense
PUS1ENSG00000177192ENST00000376649p.P355Pc.1065G>TSubstitution - coding silent
ENST00000280576p.?c.5237+8A>TUnknown
OR11L1ENSG00000197591ENST00000355784p.Q173Ec.517C>GSubstitution - Missense
HNRNPCL1ENSG00000179172ENST00000317869p.A182Ac.546C>ASubstitution - coding silent
LMX1AENSG00000162761ENST00000367893p.A212Sc.634G>TSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.R30Rc.90G>TSubstitution - coding silent
ENST00000310358p.R717Rc.2149C>ASubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.S26Sc.78T>CSubstitution - coding silent
NCAPD3ENSG00000151503ENST00000534548p.S1139Rc.3415A>CSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.H229Hc.687C>TSubstitution - coding silent
KCNC1ENSG00000129159ENST00000379472p.T241Rc.722C>GSubstitution - Missense
XPR1ENSG00000143324ENST00000367590p.P221Pc.663C>GSubstitution - coding silent
GRIP1ENSG00000155974ENST00000398016p.E888*c.2662G>TSubstitution - Nonsense
GRIP1ENSG00000155974ENST00000398016p.R388Sc.1164G>TSubstitution - Missense
RAB3IPENSG00000127328ENST00000550536p.F336Fc.1008C>TSubstitution - coding silent
GRIP1ENSG00000155974ENST00000398016p.L56Lc.168G>ASubstitution - coding silent
LGR5ENSG00000139292ENST00000266674p.V578Gc.1733T>GSubstitution - Missense
TIMM8BENSG00000150779ENST00000541231p.A10Ac.30G>TSubstitution - coding silent
TTC12ENSG00000149292ENST00000529221p.I268Tc.803T>CSubstitution - Missense
CD163ENSG00000177575ENST00000396620p.Q792Lc.2375A>TSubstitution - Missense
HYOU1ENSG00000149428ENST00000404233p.?c.496+3G>TUnknown
ENST00000450700p.M389Tc.1166T>CSubstitution - Missense
CASP1ENSG00000137752ENST00000533400p.M17Vc.49A>GSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000334267p.S657Nc.1970G>ASubstitution - Missense
TRIM29ENSG00000137699ENST00000341846p.Q277Lc.830A>TSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.F63Fc.189C>TSubstitution - coding silent
MUC2ENSG00000198788ENST00000359061p.F63Fc.189C>TSubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.L299Rc.896T>GSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.L299Rc.896T>GSubstitution - Missense
LYVE1ENSG00000133800ENST00000256178p.E217Qc.649G>CSubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.G926Vc.2777G>TSubstitution - Missense
NELL1ENSG00000165973ENST00000357134p.?c.1301-7C>TUnknown
NELL1ENSG00000165973ENST00000357134p.R565Lc.1694G>TSubstitution - Missense
ANO5ENSG00000171714ENST00000324559p.R364Gc.1090A>GSubstitution - Missense
DDX10ENSG00000178105ENST00000322536p.A185Gc.554C>GSubstitution - Missense
LMO2ENSG00000135363ENST00000395833p.C80Fc.239G>TSubstitution - Missense
ENST00000429306p.?c.964-1G>AUnknown
SORT1ENSG00000134243ENST00000256637p.P478Tc.1432C>ASubstitution - Missense
AKNAD1ENSG00000162641ENST00000370001p.H520Lc.1559A>TSubstitution - Missense
AKNAD1ENSG00000162641ENST00000369995p.H520Lc.1559A>TSubstitution - Missense
KCNA2ENSG00000177301ENST00000316361p.E463Dc.1389G>CSubstitution - Missense
ENST00000399953_v65p.?c.318+5G>TUnknown
RPL3LENSG00000140986ENST00000268661p.T189Pc.565A>CSubstitution - Missense
ACSM5ENSG00000183549ENST00000331849p.W79Lc.236G>TSubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.G287*c.859G>TSubstitution - Nonsense
STAMENSG00000136738ENST00000377524p.S18Sc.54C>TSubstitution - coding silent
SLC39A12ENSG00000148482ENST00000377369p.G368Sc.1102G>ASubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.L136Rc.407T>GSubstitution - Missense
RAD51BENSG00000182185ENST00000487270p.?c.1037-1G>AUnknown
RAD51BENSG00000182185ENST00000487270p.?c.1037-1G>AUnknown
ARMC4ENSG00000169126ENST00000305242p.N955Yc.2863A>TSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.E1585Ec.4755G>ASubstitution - coding silent
MYO3AENSG00000095777ENST00000543632p.E601Kc.1801G>ASubstitution - Missense
GAD2ENSG00000136750ENST00000259271p.R536*c.1606A>TSubstitution - Nonsense
PCNXENSG00000100731ENST00000304743p.L2089Rc.6266T>GSubstitution - Missense
KIAA0247ENSG00000100647ENST00000342745p.L27Lc.81A>GSubstitution - coding silent
IQGAP1ENSG00000140575ENST00000268182p.L561Lc.1683A>TSubstitution - coding silent
BAIAP3ENSG00000007516ENST00000324385p.L863Lc.2589G>TSubstitution - coding silent
TVP23AENSG00000166676ENST00000299866p.?c.89+8G>AUnknown
SPATA8ENSG00000185594ENST00000328504p.T31Tc.93C>TSubstitution - coding silent
C10orf71ENSG00000177354ENST00000323868p.H569Qc.1707C>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.G1060Cc.3178G>TSubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417912p.W145Cc.435G>CSubstitution - Missense
PRKG1ENSG00000185532ENST00000373980p.G575Vc.1724G>TSubstitution - Missense
PRKG1ENSG00000185532ENST00000401604p.G560Vc.1679G>TSubstitution - Missense
ENST00000417177p.N1913Kc.5739C>ASubstitution - Missense
ZWINTENSG00000122952ENST00000373944p.?c.793-7C>TUnknown
ENST00000373940p.?c.233-7C>TUnknown
TDRD9ENSG00000156414ENST00000409874p.S147fs*5c.441delTDeletion - Frameshift
TTC40ENSG00000171811ENST00000368586p.Q2263Lc.6788A>TSubstitution - Missense
NUDT14ENSG00000183828ENST00000392568p.R87Wc.259C>TSubstitution - Missense
BRF1ENSG00000185024ENST00000546474p.G632Wc.1894G>TSubstitution - Missense
BRF1ENSG00000185024ENST00000440513p.G539Wc.1615G>TSubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.L921Lc.2763G>TSubstitution - coding silent
CEP170BENSG00000099814ENST00000556508p.L851Lc.2553G>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.G3544Cc.10630G>TSubstitution - Missense
NDRG2ENSG00000165795ENST00000397851p.M127Tc.380T>CSubstitution - Missense
OR11H6ENSG00000176219ENST00000315519p.S124Sc.372A>GSubstitution - coding silent
TEP1ENSG00000129566ENST00000262715p.P1599Tc.4795C>ASubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.P436Tc.1306C>ASubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.K1054Kc.3162G>ASubstitution - coding silent
FAM111AENSG00000166801ENST00000528737p.D91Yc.271G>TSubstitution - Missense
OR52N5ENSG00000181009ENST00000317093p.S76fs*3c.226_227delTCDeletion - Frameshift
OR5B3ENSG00000172769ENST00000309403p.V184Fc.550G>TSubstitution - Missense
OR5B2ENSG00000172365ENST00000302581p.V97Lc.289G>CSubstitution - Missense
KHNYNENSG00000100441ENST00000251343p.A419Tc.1255G>ASubstitution - Missense
PGA5ENSG00000256713ENST00000312403p.I337Ic.1011C>TSubstitution - coding silent
OR52E6ENSG00000205409ENST00000379946p.E63*c.187G>TSubstitution - Nonsense
GANABENSG00000089597ENST00000356638p.K332fs*7c.993delGDeletion - Frameshift
INCENPENSG00000149503ENST00000394818p.E763*c.2287G>TSubstitution - Nonsense
OR56B4ENSG00000180919ENST00000316529p.Q14*c.40C>TSubstitution - Nonsense
CARNS1ENSG00000172508ENST00000445895p.A585Pc.1753G>CSubstitution - Missense
RRP8ENSG00000132275ENST00000254605p.R239Qc.716G>ASubstitution - Missense
MRPL21ENSG00000197345ENST00000362034p.Q42Rc.125A>GSubstitution - Missense
RPS6KB2ENSG00000175634ENST00000312629p.D261Ec.783C>ASubstitution - Missense
TCIRG1ENSG00000110719ENST00000265686p.I776Fc.2326A>TSubstitution - Missense
PZPENSG00000126838ENST00000261336p.S938Sc.2814C>ASubstitution - coding silent
CCER1ENSG00000197651ENST00000358859p.E387Ec.1161G>ASubstitution - coding silent
CTTNENSG00000085733ENST00000301843p.?c.1177-1G>TUnknown
CTTNENSG00000085733ENST00000301843p.?c.1177-1G>TUnknown
RYR2ENSG00000198626ENST00000366574p.S4141Rc.12423C>ASubstitution - Missense
DCLRE1AENSG00000198924ENST00000369305p.K37Ic.110A>TSubstitution - Missense
ZNF669ENSG00000188295ENST00000343381p.G44Dc.131G>ASubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.?c.2328-9G>TUnknown
NUDT5ENSG00000165609ENST00000491614p.L173Fc.519A>TSubstitution - Missense
WDR37ENSG00000047056ENST00000358220p.V468Vc.1404G>CSubstitution - coding silent
MTMR2ENSG00000087053ENST00000352297p.A249Vc.746C>TSubstitution - Missense
MRE11AENSG00000020922ENST00000323977p.L169Pc.506T>CSubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.C376Yc.1127G>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.E717Vc.2150A>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.E717Vc.2150A>TSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.?c.914+5G>AUnknown
UTP20ENSG00000120800ENST00000261637p.A2152Sc.6454G>TSubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.?c.8203-3C>TUnknown
MUC19ENSG00000205592ENST00000425730p.G806Vc.2417G>TSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.A1558Sc.4672G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.?c.62-1G>AUnknown
KIF21AENSG00000139116ENST00000361961p.A1426Ac.4278A>TSubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.A1440Ac.4320A>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.L478Rc.1433T>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.L478Rc.1433T>GSubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.T208Rc.623C>GSubstitution - Missense
PAN3ENSG00000152520ENST00000380958p.?c.2385-7C>TUnknown
PAN3ENSG00000152520ENST00000399613p.?c.1785-7C>TUnknown
F5ENSG00000198734ENST00000367797p.Y956Hc.2866T>CSubstitution - Missense
EPB41ENSG00000159023ENST00000349460p.K145Qc.433A>CSubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.?c.2319-8G>TUnknown
NM_007365.1p.P482Pc.1446C>ASubstitution - coding silent
GABRG3ENSG00000182256ENST00000333743p.I94fs*2c.280_281insAInsertion - Frameshift
GABRG3ENSG00000182256ENST00000333743p.S426*c.1277C>ASubstitution - Nonsense
DFFBENSG00000169598ENST00000378209p.W223Cc.669G>TSubstitution - Missense
SLAMF9ENSG00000162723ENST00000368093p.G146Vc.437G>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.A261Tc.781G>ASubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.P1303Pc.3909A>GSubstitution - coding silent
LIPKENSG00000204021ENST00000404190p.W10*c.30G>ASubstitution - Nonsense
KIF11ENSG00000138160ENST00000260731p.?c.1129-6G>TUnknown
KIF20BENSG00000138182ENST00000260753p.R1637Ic.4910G>TSubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.R1707Ic.5120G>TSubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.Q915Lc.2744A>TSubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.C551*c.1653C>ASubstitution - Nonsense
SLIT1ENSG00000187122ENST00000266058p.N215Kc.645C>ASubstitution - Missense
ENST00000349637p.R1609Rc.4827T>CSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000310343p.G1644Vc.4931G>TSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.G1295Vc.3884G>TSubstitution - Missense
ENST00000349637p.S3415Yc.10244C>ASubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.R135Cc.403C>TSubstitution - Missense
TRAF6ENSG00000175104ENST00000526995p.I407Mc.1221A>GSubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.L461Vc.1381C>GSubstitution - Missense
MYBPC3ENSG00000134571ENST00000399249p.R1022Cc.3064C>TSubstitution - Missense
AMBRA1ENSG00000110497ENST00000314845p.E1174Gc.3521A>GSubstitution - Missense
OR51D1ENSG00000197428ENST00000357605p.M220Ic.660G>ASubstitution - Missense
NESENSG00000132688ENST00000368223p.P1383Lc.4148C>TSubstitution - Missense
OR4S1ENSG00000176555ENST00000319988p.V197Lc.589G>TSubstitution - Missense
CD1BENSG00000158485ENST00000368168p.V269Mc.805G>ASubstitution - Missense
KIF5AENSG00000155980ENST00000455537p.V40Ic.118G>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.V2836Vc.8508G>ASubstitution - coding silent
TMEM5ENSG00000118600ENST00000261234p.?c.915-1G>TUnknown
METTL21BENSG00000123427ENST00000333012p.D107Dc.321C>TSubstitution - coding silent
KIF5AENSG00000155980ENST00000455537p.V457Vc.1371G>ASubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.Y1363*c.4089C>ASubstitution - Nonsense
NAV3ENSG00000067798ENST00000397909p.Q1364*c.4090C>TSubstitution - Nonsense
NM_014903.3p.Q2018Kc.6052C>ASubstitution - Missense
IFFO1ENSG00000010295ENST00000336604p.A280Tc.838G>ASubstitution - Missense
NOP2ENSG00000111641ENST00000399466p.?c.1777+4A>GUnknown
PPFIA2ENSG00000139220ENST00000549396p.P542Pc.1626C>ASubstitution - coding silent
ENST00000458043_v65p.N1573Kc.4719T>ASubstitution - Missense
SLC2A3ENSG00000059804ENST00000075120p.G29Ac.86G>CSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.P483Qc.1448C>ASubstitution - Missense
NM_014903.3p.P483Qc.1448C>ASubstitution - Missense
DUSP6ENSG00000139318ENST00000279488p.P59Tc.175C>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.V144Lc.430G>CSubstitution - Missense
TSNAXENSG00000116918ENST00000366639p.E238Kc.712G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.V2309Vc.6927G>ASubstitution - coding silent
PTPROENSG00000151490ENST00000281171p.?c.1585+8G>AUnknown
GOLGA3ENSG00000090615ENST00000204726p.H598fs*7c.1792delCDeletion - Frameshift
GOLGA3ENSG00000090615ENST00000545875p.H598fs*7c.1792delCDeletion - Frameshift
GOLGA3ENSG00000090615ENST00000456883p.H598fs*7c.1792delCDeletion - Frameshift
GYS2ENSG00000111713ENST00000261195p.R422*c.1264C>TSubstitution - Nonsense
PDE3AENSG00000172572ENST00000359062p.R862Hc.2585G>ASubstitution - Missense
WBP11ENSG00000084463ENST00000261167p.Q36Lc.107A>TSubstitution - Missense
SLCO1A2ENSG00000084453ENST00000307378p.R609Kc.1826G>ASubstitution - Missense
KRT71ENSG00000139648ENST00000267119p.R207Mc.620G>TSubstitution - Missense
ENST00000319957p.H822Yc.2464C>TSubstitution - Missense
SLC4A8ENSG00000050438ENST00000358657p.A962Gc.2885C>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.F400Fc.1200C>TSubstitution - coding silent
ACVRL1ENSG00000139567ENST00000388922p.L153Lc.459G>TSubstitution - coding silent
FSD2ENSG00000186628ENST00000334574p.T431Ic.1292C>TSubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.A779Gc.2336C>GSubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.T1054Nc.3161C>ASubstitution - Missense
ACSBG1ENSG00000103740ENST00000258873p.F172Fc.516C>TSubstitution - coding silent
ALPK3ENSG00000136383ENST00000258888p.G948Cc.2842G>TSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.G948Cc.2842G>TSubstitution - Missense
CHRDL2ENSG00000054938ENST00000263671p.S190Wc.569C>GSubstitution - Missense
CHRDL2ENSG00000054938ENST00000263671p.S190Ac.568T>GSubstitution - Missense
FANCIENSG00000140525ENST00000310775p.S950Cc.2848A>TSubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.R570*c.1708C>TSubstitution - Nonsense
DHX58ENSG00000108771ENST00000251642p.?c.1251+5G>TUnknown
GRB10ENSG00000106070ENST00000398812p.C290Cc.870T>CSubstitution - coding silent
SERPINA4ENSG00000100665ENST00000557004p.S35Yc.104C>ASubstitution - Missense
TBX18ENSG00000112837ENST00000369663p.R128Rc.384G>TSubstitution - coding silent
GFRALENSG00000187871ENST00000340465p.T261Tc.783C>ASubstitution - coding silent
KIAA1755ENSG00000149633ENST00000279024p.G329Vc.986G>TSubstitution - Missense
TAAR6ENSG00000146383ENST00000275198p.P26Pc.78C>ASubstitution - coding silent
ENST00000373722p.R157Rc.469C>ASubstitution - coding silent
LRRTM3ENSG00000198739ENST00000361320p.R157Rc.469C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.C277Fc.830G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.E150*c.448G>TSubstitution - Nonsense
OR6T1ENSG00000181499ENST00000321252p.Q53Kc.157C>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.T1930Tc.5790C>ASubstitution - coding silent
SEMG2ENSG00000124157ENST00000372769p.C159Yc.476G>ASubstitution - Missense
MORC1ENSG00000114487ENST00000232603p.M108Ic.324G>TSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.?c.1774-1G>TUnknown
TECRLENSG00000205678ENST00000381210p.K342Nc.1026G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.R173Ic.518G>TSubstitution - Missense
ENST00000402998p.R431Ic.1292G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R203Ic.608G>TSubstitution - Missense
TMEM201ENSG00000188807ENST00000340381p.A139Tc.415G>ASubstitution - Missense
TMEM201ENSG00000188807ENST00000340305p.A139Tc.415G>ASubstitution - Missense
RNF111ENSG00000157450ENST00000434298p.P678Pc.2034G>ASubstitution - coding silent
OR4D11ENSG00000176200ENST00000313253p.S74Yc.221C>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.A823Ac.2469T>ASubstitution - coding silent
FTHL17ENSG00000132446ENST00000359202p.A104Sc.310G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R203Ic.608G>TSubstitution - Missense
ZNF679ENSG00000197123ENST00000421025p.C90Fc.269G>TSubstitution - Missense
OR2A5ENSG00000221836ENST00000408906p.V204Lc.610G>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.C277Fc.830G>TSubstitution - Missense
MAPKAPK2ENSG00000162889ENST00000294981p.?c.485-10C>TUnknown
ENST00000367087p.A262Tc.784G>ASubstitution - Missense
FAM71AENSG00000162771ENST00000294829p.R440Sc.1318C>ASubstitution - Missense
KRT1ENSG00000167768ENST00000252244p.Q418Lc.1253A>TSubstitution - Missense
KRT78ENSG00000170423ENST00000304620p.A367Dc.1100C>ASubstitution - Missense
SPRYD3ENSG00000167778ENST00000301463p.G237Rc.709G>ASubstitution - Missense
GPR84ENSG00000139572ENST00000267015p.L111Lc.333C>ASubstitution - coding silent
MYL6ENSG00000092841ENST00000550697p.R94Rc.280C>ASubstitution - coding silent
MYL6ENSG00000092841ENST00000547649p.R94Rc.280C>ASubstitution - coding silent
CCDC33ENSG00000140481ENST00000398814p.V108Lc.322G>TSubstitution - Missense
CCDC33ENSG00000140481ENST00000398814p.S147Yc.440C>ASubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.S350Yc.1049C>ASubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.L488Lc.1462T>CSubstitution - coding silent
LINGO1ENSG00000169783ENST00000355300p.L97Mc.289C>ASubstitution - Missense
FNDC3AENSG00000102531ENST00000492622p.Y697Fc.2090A>TSubstitution - Missense
KIAA0226LENSG00000102445ENST00000378784p.S262Tc.785G>CSubstitution - Missense
TSC22D1ENSG00000102804ENST00000458659p.S282Fc.845C>TSubstitution - Missense
OLFM4ENSG00000102837ENST00000219022p.N432Kc.1296C>ASubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.K19Nc.57G>TSubstitution - Missense
GIT2ENSG00000139436ENST00000355312p.E147Qc.439G>CSubstitution - Missense
GIT2ENSG00000139436ENST00000547815p.E147Qc.439G>CSubstitution - Missense
PWP1ENSG00000136045ENST00000412830p.D96Nc.286G>ASubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.S152Nc.455G>ASubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.D2007Vc.6020A>TSubstitution - Missense
ENST00000377560_v62p.D2257Vc.6770A>TSubstitution - Missense
SCELENSG00000136155ENST00000349847p.S127Sc.381A>TSubstitution - coding silent
DCTENSG00000080166ENST00000377028p.N105Yc.313A>TSubstitution - Missense
LYZL2ENSG00000151033ENST00000375318p.S65Pc.193T>CSubstitution - Missense
ENST00000253892p.R232Qc.695G>ASubstitution - Missense
NAMPTLENSG00000229644ENST00000440465p.P314Ac.940C>GSubstitution - Missense


COSMIC

4 mutations reported
2 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
CDKN2AENSG00000147889ENST00000304494p.?c.1_150del150Unknown8938142
CDKN2AENSG00000147889ENST00000304494p.0?c.1_471del471Whole gene deletion7882351
NRASENSG00000213281ENST00000369535p.Q61Rc.182A>GSubstitution - Missense6587382
NRASENSG00000213281ENST00000369535p.Q61Rc.182A>GSubstitution - Missense23515407