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NCI-H661 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1561 mutations reported
473 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
SPACA7ENSG00000153498ENST00000283550p.G92Vc.275G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.H8010Nc.24028C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.W1828Cc.5484G>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000483466p.S730Cc.2188A>TSubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.A150Ac.450C>TSubstitution - coding silent
LPLENSG00000175445ENST00000311322p.?c.1019-9C>TUnknown
TCF4ENSG00000196628ENST00000356073p.G358Rc.1072G>CSubstitution - Missense
KIAA1211LENSG00000196872ENST00000397899p.V173Lc.517G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S31016Cc.93047C>GSubstitution - Missense
ENST00000356127p.P27066Qc.81197C>ASubstitution - Missense
ENST00000273083p.T517Tc.1551C>TSubstitution - coding silent
XIRP1ENSG00000168334ENST00000340369p.T729Sc.2185A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.D202Hc.604G>CSubstitution - Missense
SIX5ENSG00000177045ENST00000317578p.V323Gc.968T>GSubstitution - Missense
SLC26A5ENSG00000170615ENST00000306312p.R691Kc.2072G>ASubstitution - Missense
ERCC2ENSG00000104884ENST00000485403p.L355Vc.1063C>GSubstitution - Missense
ENST00000373468p.R772Lc.2315G>TSubstitution - Missense
KHDRBS2ENSG00000112232ENST00000281156p.S316Tc.947G>CSubstitution - Missense
NTRK2ENSG00000148053ENST00000304053p.K308Qc.922A>CSubstitution - Missense
ENST00000402998p.G697Dc.2090G>ASubstitution - Missense
AMPHENSG00000078053ENST00000356264p.L384Qc.1151T>ASubstitution - Missense
CMTR2ENSG00000180917ENST00000338099p.P244Rc.731C>GSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357545p.P146Hc.437C>ASubstitution - Missense
DDX4ENSG00000152670ENST00000505374p.?c.1715+5G>AUnknown
MUC6ENSG00000184956ENST00000421673p.T1786Sc.5356A>TSubstitution - Missense
ITGAVENSG00000138448ENST00000433736p.E107fs*16c.317_318insGInsertion - Frameshift
PDZRN3ENSG00000121440ENST00000535920p.V207Mc.619G>ASubstitution - Missense
GRAP2ENSG00000100351ENST00000540310p.?c.615+7G>TUnknown
NFASCENSG00000163531ENST00000367171p.G1272fs*>61c.3814delGDeletion - Frameshift
SU_LRRK2p.P2126Tc.6376C>ASubstitution - Missense
INPP5FENSG00000198825ENST00000361976p.Q1101Qc.3303G>ASubstitution - coding silent
VEZTENSG00000028203ENST00000261219p.S21Ic.62G>TSubstitution - Missense
C10orf107ENSG00000183346ENST00000330194p.W35Cc.105G>CSubstitution - Missense
ANO5ENSG00000171714ENST00000324559p.H376Yc.1126C>TSubstitution - Missense
ENST00000417177p.G416*c.1246G>TSubstitution - Nonsense
PCDH15ENSG00000150275ENST00000414778p.G416*c.1246G>TSubstitution - Nonsense
CRAMP1LENSG00000007545ENST00000397412p.K885*c.2653A>TSubstitution - Nonsense
PTCHD3ENSG00000182077ENST00000438700p.D556Vc.1667A>TSubstitution - Missense
OPTCENSG00000188770ENST00000367222p.N309Kc.927C>ASubstitution - Missense
OR2C3ENSG00000196242ENST00000366487p.H245Qc.735C>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.E3986Kc.11956G>ASubstitution - Missense
CDC16ENSG00000130177ENST00000360383p.A142Tc.424G>ASubstitution - Missense
AMOTENSG00000126016ENST00000304758p.Q664Pc.1991A>CSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.P936Pc.2808A>GSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.W1874Cc.5622G>TSubstitution - Missense
DNM2ENSG00000079805ENST00000359692p.D380Dc.1140C>TSubstitution - coding silent
ENPP7ENSG00000182156ENST00000328313p.K306Mc.917A>TSubstitution - Missense
LASP1ENSG00000002834ENST00000318008p.E48*c.142G>TSubstitution - Nonsense
ATP5JENSG00000154723ENST00000400087p.R22Lc.65G>TSubstitution - Missense
ZNF616ENSG00000204611ENST00000330123p.V113Lc.337G>TSubstitution - Missense
ZNF615ENSG00000197619ENST00000376716p.K580*c.1738A>TSubstitution - Nonsense
C2orf16ENSG00000221843ENST00000408964p.H385Hc.1155T>CSubstitution - coding silent
BDH2ENSG00000164039ENST00000296424p.D5fs*1c.12_13insTInsertion - Frameshift
FAM47CENSG00000198173ENST00000358047p.V603Lc.1807G>TSubstitution - Missense
NM_152536.2p.I753Mc.2259C>GSubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.H61Nc.181C>ASubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.G970Vc.2909G>TSubstitution - Missense
CLSTN2ENSG00000158258ENST00000458420p.V795Vc.2385C>ASubstitution - coding silent
ZNF445ENSG00000185219ENST00000396077p.K651Ic.1952A>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.E698Kc.2092G>ASubstitution - Missense
UTYENSG00000183878ENST00000331397p.M459Ic.1377G>TSubstitution - Missense
FAM187AENSG00000214447ENST00000331733p.G327Sc.979G>ASubstitution - Missense
EYA4ENSG00000112319ENST00000355167p.S333Sc.999C>ASubstitution - coding silent
SPATA16ENSG00000144962ENST00000351008p.I40Fc.118A>TSubstitution - Missense
LANCL2ENSG00000132434ENST00000254770p.R144Mc.431G>TSubstitution - Missense
BAZ2BENSG00000123636ENST00000392783p.D148Yc.442G>TSubstitution - Missense
CCDC105ENSG00000160994ENST00000292574p.L382Pc.1145T>CSubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.R880Sc.2638C>ASubstitution - Missense
PHGDHENSG00000092621ENST00000369407p.?c.1346-1G>TUnknown
ARHGAP35ENSG00000160007ENST00000404338p.K179*c.535A>TSubstitution - Nonsense
DTX3LENSG00000163840ENST00000296161p.Q487Qc.1461A>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.M655Tc.1964T>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.S215Ic.644G>TSubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.T433Tc.1299C>TSubstitution - coding silent
B2MENSG00000166710ENST00000558401p.S53Sc.159C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.?c.944-7T>AUnknown
SEC24CENSG00000176986ENST00000345254p.C842*c.2526T>ASubstitution - Nonsense
MYF5ENSG00000111049ENST00000228644p.G221Wc.661G>TSubstitution - Missense
CD1EENSG00000158488ENST00000368167p.G113Cc.337G>TSubstitution - Missense
IFI16ENSG00000163565ENST00000368131p.T212Rc.635C>GSubstitution - Missense
KIRREL3ENSG00000149571ENST00000525704p.I114Ic.342C>ASubstitution - coding silent
OR52E6ENSG00000205409ENST00000379946p.G101Vc.302G>TSubstitution - Missense
HPSE2ENSG00000172987ENST00000370546p.R230Hc.689G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.G411*c.1231G>TSubstitution - Nonsense
VSTM4ENSG00000165633ENST00000332853p.V83Vc.249G>TSubstitution - coding silent
AKR1C1ENSG00000187134ENST00000380872p.H248Lc.743A>TSubstitution - Missense
AKNAD1ENSG00000162641ENST00000370001p.?c.2059+9C>AUnknown
UBCENSG00000150991ENST00000339647p.T402Sc.1204A>TSubstitution - Missense
MIA2ENSG00000150526ENST00000280082p.P622Qc.1865C>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.S655fs*123c.1957delCDeletion - Frameshift
TERF2IPENSG00000166848ENST00000300086p.Q174Lc.521A>TSubstitution - Missense
ENST00000393466p.G1228*c.3682G>TSubstitution - Nonsense
OR2T3ENSG00000196539ENST00000359594p.S260Sc.780C>GSubstitution - coding silent
PLXNA1ENSG00000114554ENST00000393409p.I1826Vc.5476A>GSubstitution - Missense
ORC5ENSG00000164815ENST00000297431p.N379Sc.1136A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.C3074Sc.9220T>ASubstitution - Missense
ENST00000330816p.M16Ic.48G>TSubstitution - Missense
PPM1BENSG00000138032ENST00000378551p.?c.847-2A>TUnknown
ZZEF1ENSG00000074755ENST00000381638p.T563Tc.1689T>GSubstitution - coding silent
MDN1ENSG00000112159ENST00000369393p.?c.1725+3A>GUnknown
PHACTR1ENSG00000112137ENST00000332995p.G167Wc.499G>TSubstitution - Missense
NUDCD1ENSG00000120526ENST00000239690p.W152Cc.456G>TSubstitution - Missense
XM_291344.4p.D564Ec.1692C>GSubstitution - Missense
THAP5ENSG00000177683ENST00000313516p.Y162Fc.485A>TSubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.M758Ic.2274G>TSubstitution - Missense
STC2ENSG00000113739ENST00000265087p.E224*c.670G>TSubstitution - Nonsense
NTN3ENSG00000162068ENST00000293973p.R277Rc.829C>ASubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.P414Pc.1242C>TSubstitution - coding silent
DDX4ENSG00000152670ENST00000505374p.?c.1715+5G>AUnknown
PDZRN3ENSG00000121440ENST00000263666p.V485Mc.1453G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.E1553Qc.4657G>CSubstitution - Missense
MICALL2ENSG00000164877ENST00000297508p.R610Wc.1828C>TSubstitution - Missense
THSD1ENSG00000136114ENST00000258613p.G54Wc.160G>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.A930Tc.2788G>ASubstitution - Missense
NLRP14ENSG00000158077ENST00000299481p.Y440*c.1320C>GSubstitution - Nonsense
ABHD4ENSG00000100439ENST00000428304p.R94Lc.281G>TSubstitution - Missense
RGS7ENSG00000182901ENST00000407727p.?c.957-2A>GUnknown
CACNA1CENSG00000151067ENST00000399617p.R1342Lc.4025G>TSubstitution - Missense
MANSC4ENSG00000205693ENST00000381273p.N156Ic.467A>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.P302Ac.904C>GSubstitution - Missense
PLCXD3ENSG00000182836ENST00000377801p.V256Vc.768G>ASubstitution - coding silent
LEPRENSG00000116678ENST00000349533p.S853Sc.2559C>GSubstitution - coding silent
UBXN11ENSG00000158062ENST00000374222p.?c.852+6A>CUnknown
SSTR4ENSG00000132671ENST00000255008p.V100Vc.300G>ASubstitution - coding silent
SEPT9ENSG00000184640ENST00000427180p.E92Kc.274G>ASubstitution - Missense
INSRENSG00000171105ENST00000302850p.L89Lc.267G>CSubstitution - coding silent
CYP7A1ENSG00000167910ENST00000301645p.A276Ac.828C>ASubstitution - coding silent
ZNF557ENSG00000130544ENST00000252840p.S110Sc.330A>GSubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000296315p.G456Vc.1367G>TSubstitution - Missense
LRIG1ENSG00000144749ENST00000383703p.H1007Yc.3019C>TSubstitution - Missense
CCDC151ENSG00000198003ENST00000356392p.G382Rc.1144G>CSubstitution - Missense
PAPD5ENSG00000121274ENST00000436909p.L347Lc.1041A>TSubstitution - coding silent
TRPM2ENSG00000142185ENST00000397928p.Q199Hc.597G>TSubstitution - Missense
NM_147171.1p.V2002Lc.6004G>CSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.A1472Pc.4414G>CSubstitution - Missense
ABATENSG00000183044ENST00000396600p.?c.316+3delaUnknown
EPHA6ENSG00000080224ENST00000502694p.I65Mc.195A>GSubstitution - Missense
HTRA4ENSG00000169495ENST00000302495p.A258Sc.772G>TSubstitution - Missense
VIPENSG00000146469ENST00000367244p.E166Vc.497A>TSubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.G169Cc.505G>TSubstitution - Missense
SEMA6BENSG00000167680ENST00000301293p.L191Pc.572T>CSubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.S981Ac.2941T>GSubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.Q33Kc.97C>ASubstitution - Missense
SMG9ENSG00000105771ENST00000270066p.?c.1484+10C>TUnknown
PKN1ENSG00000123143ENST00000242783p.W342Cc.1026G>TSubstitution - Missense
SSUH2ENSG00000125046ENST00000544814p.C218*c.654C>ASubstitution - Nonsense
TCF4ENSG00000196628ENST00000544241p.G287Rc.859G>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.H4969Nc.14905C>ASubstitution - Missense
ENST00000369212_v70p.W158Cc.474G>TSubstitution - Missense
CILPENSG00000138615ENST00000261883p.G848Gc.2544C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.R158Lc.473G>TSubstitution - Missense
PCDH20ENSG00000197991ENST00000409186p.R670Rc.2008C>ASubstitution - coding silent
PTPN11ENSG00000179295ENST00000351677p.N58Sc.173A>GSubstitution - Missense
CD1BENSG00000158485ENST00000368168p.L2Mc.4C>ASubstitution - Missense
DNAJB13ENSG00000187726ENST00000339764p.R193Gc.577C>GSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.R636Sc.1908G>TSubstitution - Missense
IPO7ENSG00000205339ENST00000379719p.Q638Lc.1913A>TSubstitution - Missense
MAFAENSG00000182759ENST00000333480p.K311Ec.931A>GSubstitution - Missense
NM_147171.1p.A1484Pc.4450G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S10992*c.32975C>ASubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.S24644Cc.73931C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S24711Cc.74132C>GSubstitution - Missense
ATP2B2ENSG00000157087ENST00000360273p.T136Mc.407C>TSubstitution - Missense
MANBAENSG00000109323ENST00000226578p.E89Dc.267A>CSubstitution - Missense
ARPP21ENSG00000172995ENST00000187397p.P590Pc.1770C>ASubstitution - coding silent
OSBPL3ENSG00000070882ENST00000313367p.A640Sc.1918G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S1828Nc.5483G>ASubstitution - Missense
CDKN2AENSG00000147889ENST00000498124p.?c.457+1G>TUnknown
ATRXENSG00000085224ENST00000373344p.Q1874Pc.5621A>CSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.Y2785*c.8355C>GSubstitution - Nonsense
PCDH11XENSG00000102290ENST00000373094p.L14Ic.40C>ASubstitution - Missense
ANXA1ENSG00000135046ENST00000257497p.A99Ac.297C>ASubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.D259Yc.775G>TSubstitution - Missense
ITGA2BENSG00000005961ENST00000262407p.V484Ac.1451T>CSubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.H227Hc.681C>TSubstitution - coding silent
ENST00000316490_v65p.W3838Rc.11512T>CSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.G422Dc.1265G>ASubstitution - Missense
PLD3ENSG00000105223ENST00000359274p.D263Hc.787G>CSubstitution - Missense
GFRALENSG00000187871ENST00000340465p.F173Fc.519C>TSubstitution - coding silent
ENST00000380863p.A409Sc.1225G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.H3080Pc.9239A>CSubstitution - Missense
UCHL5ENSG00000116750ENST00000421683p.L65Rc.194T>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.D265Yc.793G>TSubstitution - Missense
LEPRENSG00000116678ENST00000371059p.S853Sc.2559C>GSubstitution - coding silent
NCSTNENSG00000162736ENST00000368063p.T497Tc.1491G>ASubstitution - coding silent
ENST00000263817_v70p.R487Cc.1459C>TSubstitution - Missense
NEURL4ENSG00000215041ENST00000315614p.T830Ic.2489C>TSubstitution - Missense
COG3ENSG00000136152ENST00000349995p.D337Vc.1010A>TSubstitution - Missense
BCANENSG00000132692ENST00000329117p.R534Sc.1602G>TSubstitution - Missense
RDH16ENSG00000139547ENST00000398138p.R19Rc.57G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.A5597Gc.16790C>GSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.K335*c.1003A>TSubstitution - Nonsense
CEP170ENSG00000143702ENST00000366542p.G1005Cc.3013G>TSubstitution - Missense
VEZTENSG00000028203ENST00000436874p.S69Ic.206G>TSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.G581*c.1741G>TSubstitution - Nonsense
SZT2ENSG00000198198ENST00000562955p.M2797_D2800delMLFDc.8388_8399del12Deletion - In frame
VSTM4ENSG00000165633ENST00000298454p.V83Vc.249G>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.G411*c.1231G>TSubstitution - Nonsense
AKNAD1ENSG00000162641ENST00000369995p.?c.2059+9C>AUnknown
MANSC4ENSG00000205693ENST00000381273p.N156Ic.467A>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.P1685Rc.5054C>GSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.S127Sc.381C>TSubstitution - coding silent
BTBD7ENSG00000011114ENST00000334746p.R284Pc.851G>CSubstitution - Missense
DIS3LENSG00000166938ENST00000319212p.I629Vc.1885A>GSubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.N628Nc.1884T>CSubstitution - coding silent
KANK4ENSG00000132854ENST00000371153p.A134Sc.400G>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.M907Lc.2719A>TSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.R869Lc.2606G>TSubstitution - Missense
STAU1ENSG00000124214ENST00000371856p.E207Kc.619G>ASubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.Q127Kc.379C>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.L383Lc.1149G>TSubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.P1427Rc.4280C>GSubstitution - Missense
UNC93AENSG00000112494ENST00000230256p.M422Ic.1266G>CSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.G1586Rc.4756G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.L19350Vc.58048C>GSubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.L936Lc.2808G>ASubstitution - coding silent
PLCB1ENSG00000182621ENST00000378641p.R657Sc.1971G>TSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.C646Sc.1936T>ASubstitution - Missense
NLRP11ENSG00000179873ENST00000443188p.P467Tc.1399C>ASubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.I994Mc.2982C>GSubstitution - Missense
UMPSENSG00000114491ENST00000232607p.V71Vc.213G>ASubstitution - coding silent
GBF1ENSG00000107862ENST00000369983p.S1779Tc.5336G>CSubstitution - Missense
SPATA21ENSG00000187144ENST00000375577p.G154Vc.461G>TSubstitution - Missense
LY9ENSG00000122224ENST00000368041p.P196Rc.587C>GSubstitution - Missense
HMGCS2ENSG00000134240ENST00000369406p.A198Ac.594C>ASubstitution - coding silent
PRUNEENSG00000143363ENST00000271620p.P369Hc.1106C>ASubstitution - Missense
WDR47ENSG00000085433ENST00000369965p.G886Rc.2656G>CSubstitution - Missense
SLC39A12ENSG00000148482ENST00000377369p.E296*c.886G>TSubstitution - Nonsense
STK33ENSG00000130413ENST00000447869p.S469*c.1406C>GSubstitution - Nonsense
PDE4DIPENSG00000178104ENST00000313382p.S2027Sc.6081C>TSubstitution - coding silent
PTPN5ENSG00000110786ENST00000358540p.N115Kc.345C>ASubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.?c.3107+1G>AUnknown
ENST00000344073p.G131Cc.391G>TSubstitution - Missense
TBC1D28ENSG00000189375ENST00000345096p.G206Dc.617G>ASubstitution - Missense
ADAMDEC1ENSG00000134028ENST00000256412p.A171Ac.513C>GSubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000413728p.G462Vc.1385G>TSubstitution - Missense
RTBDNENSG00000132026ENST00000322912p.P145Qc.434C>ASubstitution - Missense
SSUH2ENSG00000125046ENST00000341795p.C196*c.588C>ASubstitution - Nonsense
FANCD2ENSG00000144554ENST00000287647p.A586Vc.1757C>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.?c.4896+7A>GUnknown
CECR2ENSG00000099954ENST00000262608p.P1168Pc.3504G>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.R2384Rc.7152G>TSubstitution - coding silent
RBMS3ENSG00000144642ENST00000383767p.P387Lc.1160C>TSubstitution - Missense
ENST00000508324_v68p.I14fs*10c.40delADeletion - Frameshift
SETD1AENSG00000099381ENST00000262519p.S357_Q358insSSSSSSc.1049_1050ins18Insertion - In frame
VGLL4ENSG00000144560ENST00000273038p.E20*c.58G>TSubstitution - Nonsense
UTYENSG00000183878ENST00000331397p.M459Ic.1377G>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.G2480Cc.7438G>TSubstitution - Missense
SLC27A6ENSG00000113396ENST00000262462p.P71Tc.211C>ASubstitution - Missense
DEFB136ENSG00000205884ENST00000382209p.G43Vc.128G>TSubstitution - Missense
FAM131BENSG00000159784ENST00000409346p.E87Qc.259G>CSubstitution - Missense
HIST1H2ALENSG00000198374ENST00000357320p.A15Ac.45C>ASubstitution - coding silent
ASTN2ENSG00000148219ENST00000313400p.Y741Nc.2221T>ASubstitution - Missense
OR4P4ENSG00000181927ENST00000314612p.P165Tc.493C>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T1786Sc.5356A>TSubstitution - Missense
OR5D16ENSG00000205029ENST00000378396p.T59Ic.176C>TSubstitution - Missense
TSSK4ENSG00000139908ENST00000339917p.T45Sc.133A>TSubstitution - Missense
DNM2ENSG00000079805ENST00000314646p.D380Dc.1140C>TSubstitution - coding silent
OPRM1ENSG00000112038ENST00000419506p.T314Rc.941C>GSubstitution - Missense
ENST00000377993p.W428*c.1283G>ASubstitution - Nonsense
OR52K2ENSG00000181963ENST00000325719p.L218Mc.652C>ASubstitution - Missense
OPN4ENSG00000122375ENST00000372071p.A443Tc.1327G>ASubstitution - Missense
CEP170ENSG00000143702ENST00000366543p.G907Cc.2719G>TSubstitution - Missense
CLCNKAENSG00000186510ENST00000331433p.F309Fc.927C>TSubstitution - coding silent
SERINC2ENSG00000168528ENST00000373709p.Q64Hc.192G>CSubstitution - Missense
FMO2ENSG00000094963ENST00000209929p.?c.484+9C>AUnknown
FAM231DENSG00000203815ENST00000369173p.G105Gc.315G>ASubstitution - coding silent
IL2RAENSG00000134460ENST00000379959p.I139Mc.417T>GSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.Q1175Qc.3525A>GSubstitution - coding silent
NPAS3ENSG00000151322ENST00000357798p.N647Nc.1941T>CSubstitution - coding silent
ITPR2ENSG00000123104ENST00000381340p.D321Nc.961G>ASubstitution - Missense
NFASCENSG00000163531ENST00000339876p.G1180fs*>61c.3538delGDeletion - Frameshift
SLC38A6ENSG00000139974ENST00000267488p.?c.926-8A>GUnknown
LRRK1ENSG00000154237ENST00000284395p.M1877Vc.5629A>GSubstitution - Missense
FERMT2ENSG00000073712ENST00000395631p.?c.1869+8C>AUnknown
MYO1CENSG00000197879ENST00000361007p.L209Lc.627G>TSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371752p.?c.2959+10T>CUnknown
ESRP1ENSG00000104413ENST00000433389p.E459Ec.1377G>ASubstitution - coding silent
ZNF423ENSG00000102935ENST00000262383p.T1032Tc.3096G>CSubstitution - coding silent
CALRENSG00000179218ENST00000316448p.Q267Rc.800A>GSubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.Q413Lc.1238A>TSubstitution - Missense
CCDC178ENSG00000166960ENST00000300227p.Q413Lc.1238A>TSubstitution - Missense
USP16ENSG00000156256ENST00000399976p.Y137fs*28c.408delTDeletion - Frameshift
UGT2A3ENSG00000135220ENST00000251566p.A163Pc.487G>CSubstitution - Missense
KRTAP13-3ENSG00000240432ENST00000390690p.G98Gc.294G>TSubstitution - coding silent
MAGEB18ENSG00000176774ENST00000325250p.A41Ac.123C>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.E1484Qc.4450G>CSubstitution - Missense
OPRM1ENSG00000112038ENST00000360422p.T314Rc.941C>GSubstitution - Missense
ENST00000326929p.M204Ic.612G>TSubstitution - Missense
ZXDCENSG00000070476ENST00000336332p.S580Ic.1739G>TSubstitution - Missense
LCTENSG00000115850ENST00000264162p.L617Mc.1849C>ASubstitution - Missense
SLC6A3ENSG00000142319ENST00000270349p.R445Hc.1334G>ASubstitution - Missense
CDYLENSG00000153046ENST00000328908p.L197Fc.589C>TSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.V69Vc.207A>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.L1892Lc.5676C>ASubstitution - coding silent
SPOCK3ENSG00000196104ENST00000357154p.P149Hc.446C>ASubstitution - Missense
TRIM40ENSG00000204614ENST00000396581p.V42Vc.126G>ASubstitution - coding silent
SPAG1ENSG00000104450ENST00000388798p.?c.2281-10C>TUnknown
OR2L13ENSG00000196071ENST00000366478p.L207Fc.619C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R158Lc.473G>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.G1204Ac.3611G>CSubstitution - Missense
OAS1ENSG00000089127ENST00000445409p.E146*c.436G>TSubstitution - Nonsense
ENST00000278934p.R732Rc.2194C>ASubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.S4143Sc.12429G>TSubstitution - coding silent
SLC7A8ENSG00000092068ENST00000316902p.A290fs*15c.868delGDeletion - Frameshift
A2MENSG00000175899ENST00000318602p.V107Vc.321G>TSubstitution - coding silent
TRPC4ENSG00000133107ENST00000379705p.S956Ic.2867G>TSubstitution - Missense
TTC18ENSG00000156042ENST00000355577p.S512Ic.1535G>TSubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.P418Pc.1254A>GSubstitution - coding silent
ADMENSG00000148926ENST00000278175p.R152Gc.454C>GSubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417912p.R679Rc.2037G>CSubstitution - coding silent
UCHL5ENSG00000116750ENST00000367450p.L86Rc.257T>GSubstitution - Missense
STRIP1ENSG00000143093ENST00000369795p.R146Lc.437G>TSubstitution - Missense
ELAVL4ENSG00000162374ENST00000357083p.P251Tc.751C>ASubstitution - Missense
USP1ENSG00000162607ENST00000371146p.G11Rc.31G>ASubstitution - Missense
ATP9AENSG00000054793ENST00000338821p.G71Gc.213G>TSubstitution - coding silent
FHITENSG00000189283ENST00000476844p.H94Hc.282C>TSubstitution - coding silent
DTHD1ENSG00000197057ENST00000357504p.R258Rc.774G>TSubstitution - coding silent
ZFAND1ENSG00000104231ENST00000220669p.Q167*c.499C>TSubstitution - Nonsense
NLRP7ENSG00000167634ENST00000328092p.L964Lc.2892G>ASubstitution - coding silent
IDO2ENSG00000188676ENST00000389060p.G266Gc.798G>TSubstitution - coding silent
DNERENSG00000187957ENST00000341772p.P97Tc.289C>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.M512Tc.1535T>CSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.Q1874Pc.5621A>CSubstitution - Missense
TGFBIENSG00000120708ENST00000442011p.A659Ec.1976C>ASubstitution - Missense
EYSENSG00000188107ENST00000370621p.M1228Ic.3684G>TSubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.G1977Cc.5929G>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.?c.1728+7A>GUnknown
ROS1ENSG00000047936ENST00000368507p.A1437Sc.4309G>TSubstitution - Missense
CATSPERGENSG00000099338ENST00000409235p.?c.2931-3C>AUnknown
SIRT2ENSG00000068903ENST00000249396p.P130Lc.389C>TSubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.P831Pc.2493A>CSubstitution - coding silent
HBG1ENSG00000213934ENST00000330597p.T113Tc.339C>GSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370721p.D269Yc.805G>TSubstitution - Missense
CD1EENSG00000158488ENST00000434258p.G111Cc.331G>TSubstitution - Missense
ANO6ENSG00000177119ENST00000441606p.V465Vc.1395A>GSubstitution - coding silent
MON2ENSG00000061987ENST00000280379p.G903Vc.2708G>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.E371Kc.1111G>ASubstitution - Missense
UCHL5ENSG00000116750ENST00000367448p.L74Rc.221T>GSubstitution - Missense
THADAENSG00000115970ENST00000330266p.Q408Qc.1224G>ASubstitution - coding silent
TENM1ENSG00000009694ENST00000422452p.C765Fc.2294G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000414450p.V358Mc.1072G>ASubstitution - Missense
ABHD16AENSG00000204427ENST00000538874p.P31Tc.91C>ASubstitution - Missense
ENST00000316490p.W3790Lc.11369G>TSubstitution - Missense
SU_NEK5p.N239Nc.717C>TSubstitution - coding silent
ESRRGENSG00000196482ENST00000408911p.I349Vc.1045A>GSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.G1216Ac.3647G>CSubstitution - Missense
TSSK4ENSG00000139908ENST00000287913p.T45Sc.133A>TSubstitution - Missense
SU_LRRK2p.Q1660Pc.4979A>CSubstitution - Missense
KANSL1ENSG00000120071ENST00000262419p.G32Ac.95G>CSubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.T707Tc.2121C>ASubstitution - coding silent
DOT1LENSG00000104885ENST00000398665p.P709Qc.2126C>ASubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.D248Dc.744C>TSubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000338458p.G488Vc.1463G>TSubstitution - Missense
CDH2ENSG00000170558ENST00000269141p.P358Hc.1073C>ASubstitution - Missense
DNM2ENSG00000079805ENST00000389253p.D380Dc.1140C>TSubstitution - coding silent
BRIP1ENSG00000136492ENST00000259008p.I843Lc.2527A>CSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.I843Lc.2527A>CSubstitution - Missense
ENST00000420275p.E247Ec.741G>ASubstitution - coding silent
BSNENSG00000164061ENST00000296452p.Y3231Yc.9693C>TSubstitution - coding silent
CAMKVENSG00000164076ENST00000477224p.A475Dc.1424C>ASubstitution - Missense
POTECENSG00000183206ENST00000358970p.L366Ic.1096C>ASubstitution - Missense
APCDD1ENSG00000154856ENST00000355285p.H220Hc.660C>TSubstitution - coding silent
ENST00000356127p.L25653Vc.76957C>GSubstitution - Missense
ENST00000265148.1p.I1616Mc.4848T>GSubstitution - Missense
CACNG8ENSG00000142408ENST00000270458p.G99Gc.297C>ASubstitution - coding silent
CMBLENSG00000164237ENST00000296658p.G20Vc.59G>TSubstitution - Missense
ZIM2ENSG00000269699ENST00000221722p.T510Tc.1530T>ASubstitution - coding silent
OPRM1ENSG00000112038ENST00000434900p.T407Rc.1220C>GSubstitution - Missense
ZXDCENSG00000070476ENST00000389709p.S580Ic.1739G>TSubstitution - Missense
ENST00000317082p.K179*c.535A>TSubstitution - Nonsense
MED12ENSG00000184634ENST00000374080p.?c.2541+6G>CUnknown
AMER3ENSG00000178171ENST00000321420p.R659Mc.1976G>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.G548Gc.1644C>TSubstitution - coding silent
ENST00000341338_v68p.K108Qc.322A>CSubstitution - Missense
GRAP2ENSG00000100351ENST00000344138p.?c.813+7G>TUnknown
MEF2CENSG00000081189ENST00000504921p.I259Vc.775A>GSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.S711Rc.2133C>GSubstitution - Missense
MYBENSG00000118513ENST00000367814p.M620Ic.1860G>TSubstitution - Missense
MAGENSG00000105695ENST00000361922p.G319Wc.955G>TSubstitution - Missense
FOXP2ENSG00000128573ENST00000408937p.S636Tc.1907G>CSubstitution - Missense
ITGB6ENSG00000115221ENST00000283249p.R372Rc.1116G>TSubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.W348Cc.1044G>TSubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.G52Gc.156T>CSubstitution - coding silent
OR4C46ENSG00000185926ENST00000328188p.A140Sc.418G>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.R689Lc.2066G>TSubstitution - Missense
FCRL3ENSG00000160856ENST00000368186p.P430Pc.1290C>TSubstitution - coding silent
SPEF2ENSG00000152582ENST00000356031p.T135Tc.405T>ASubstitution - coding silent
COASYENSG00000068120ENST00000590958p.I569Vc.1705A>GSubstitution - Missense
CTNNA2ENSG00000066032ENST00000361291p.A626Dc.1877C>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000435918p.T314Rc.941C>GSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.F1362Fc.4086C>TSubstitution - coding silent
OAS3ENSG00000111331ENST00000228928p.S539Tc.1616G>CSubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.L1056Lc.3168C>ASubstitution - coding silent
SORL1ENSG00000137642ENST00000260197p.G546Gc.1638C>GSubstitution - coding silent
MS4A4AENSG00000110079ENST00000337908p.V142Ec.425T>ASubstitution - Missense
VEZTENSG00000028203ENST00000436874p.S69Ic.206G>TSubstitution - Missense
B3GAT3ENSG00000149541ENST00000265471p.G157Vc.470G>TSubstitution - Missense
SPATA19ENSG00000166118ENST00000299140p.V36Lc.106G>TSubstitution - Missense
POGZENSG00000143442ENST00000271715p.A1251Vc.3752C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.H1128Yc.3382C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.H1128Yc.3382C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.R1342Lc.4025G>TSubstitution - Missense
RNPEPENSG00000176393ENST00000295640p.E262*c.784G>TSubstitution - Nonsense
STK33ENSG00000130413ENST00000447869p.S469*c.1406C>GSubstitution - Nonsense
NPAS3ENSG00000151322ENST00000356141p.N660Nc.1980T>CSubstitution - coding silent
ENST00000318301p.K647Rc.1940A>GSubstitution - Missense
FAM19A4ENSG00000163377ENST00000295569p.?c.411+8T>CUnknown
MMP16ENSG00000156103ENST00000286614p.?c.1083+7G>AUnknown
GOT2ENSG00000125166ENST00000245206p.E95*c.283G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.H8050Hc.24150C>TSubstitution - coding silent
ABCB5ENSG00000004846ENST00000404938p.G614Cc.1840G>TSubstitution - Missense
QRFPRENSG00000186867ENST00000394427p.T95Tc.285C>ASubstitution - coding silent
TMEM130ENSG00000166448ENST00000416379p.L127Fc.379C>TSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.A267Ac.801G>TSubstitution - coding silent
DNAH14ENSG00000185842ENST00000366848p.D103Yc.307G>TSubstitution - Missense
OAS1ENSG00000089127ENST00000202917p.E146*c.436G>TSubstitution - Nonsense
CPB2ENSG00000080618ENST00000181383p.L333Lc.999G>CSubstitution - coding silent
IFI16ENSG00000163565ENST00000295809p.T212Rc.635C>GSubstitution - Missense
FCRL3ENSG00000160856ENST00000368184p.P430Pc.1290C>TSubstitution - coding silent
MESDC2ENSG00000117899ENST00000261758p.P48Pc.144C>TSubstitution - coding silent
ENST00000342887p.F153Ic.457T>ASubstitution - Missense
MTIF3ENSG00000122033ENST00000381116p.Q36Pc.107A>CSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.T617Ic.1850C>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.G2584Vc.7751G>TSubstitution - Missense
AADACL4ENSG00000204518ENST00000376221p.W284Lc.851G>TSubstitution - Missense
ANK3ENSG00000151150ENST00000355288p.V181Vc.543A>TSubstitution - coding silent
PTPRCENSG00000081237ENST00000442510p.T810Sc.2428A>TSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.A904Ac.2712C>ASubstitution - coding silent
NTNG1ENSG00000162631ENST00000370068p.Y286*c.858C>ASubstitution - Nonsense
SU_LRRK1p.M1892Vc.5674A>GSubstitution - Missense
FANCMENSG00000187790ENST00000267430p.S1665Fc.4994C>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.M915Lc.2743A>TSubstitution - Missense
TGM3ENSG00000125780ENST00000381458p.S688Yc.2063C>ASubstitution - Missense
SLC25A23ENSG00000125648ENST00000301454p.R239Hc.716G>ASubstitution - Missense
CCNE1ENSG00000105173ENST00000262643p.?c.952+3A>TUnknown
NPFFR2ENSG00000056291ENST00000308744p.W44*c.132G>ASubstitution - Nonsense
NM_015009.1p.V485Mc.1453G>ASubstitution - Missense
DHRS7CENSG00000184544ENST00000330255p.T265Tc.795C>ASubstitution - coding silent
SYTL5ENSG00000147041ENST00000297875p.V550Ac.1649T>CSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.R787Wc.2359C>TSubstitution - Missense
CCDC146ENSG00000135205ENST00000285871p.E36Vc.107A>TSubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.A950Sc.2848G>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.S259Sc.777G>ASubstitution - coding silent
CHSY3ENSG00000198108ENST00000305031p.S486Rc.1458C>ASubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.?c.2389-4G>AUnknown
NLRP1ENSG00000091592ENST00000572272p.A1365Ac.4095C>ASubstitution - coding silent
KRT9ENSG00000171403ENST00000246662p.R478Lc.1433G>TSubstitution - Missense
IMPG1ENSG00000112706ENST00000369950p.P290Qc.869C>ASubstitution - Missense
CATSPERGENSG00000099338ENST00000312265p.K744Kc.2232G>ASubstitution - coding silent
MYO1DENSG00000176658ENST00000318217p.F992Fc.2976C>TSubstitution - coding silent
TECRLENSG00000205678ENST00000381210p.M219Ic.657G>ASubstitution - Missense
KCNH7ENSG00000184611ENST00000332142p.S349*c.1046C>GSubstitution - Nonsense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
MRI1ENSG00000037757ENST00000040663p.?c.949+8G>AUnknown
OR51M1ENSG00000184698ENST00000328611p.G31Ec.92G>ASubstitution - Missense
NTNG1ENSG00000162631ENST00000542803p.Y286*c.858C>ASubstitution - Nonsense
LAYNENSG00000204381ENST00000375615p.L346Pc.1037T>CSubstitution - Missense
AIFM3ENSG00000183773ENST00000405089p.V468Lc.1402G>CSubstitution - Missense
LRRC36ENSG00000159708ENST00000563189p.P395Lc.1184C>TSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.L384Qc.1151T>ASubstitution - Missense
ENST00000414315p.R26Lc.77G>TSubstitution - Missense
G6PC2ENSG00000152254ENST00000375363p.T128Ic.383C>TSubstitution - Missense
NBPF3ENSG00000142794ENST00000318249p.E228*c.682G>TSubstitution - Nonsense
SU_OBSCN.1p.A6179Gc.18536C>GSubstitution - Missense
OR10J3ENSG00000196266ENST00000332217p.H177fs*6c.529delCDeletion - Frameshift
PPP6R3ENSG00000110075ENST00000393801p.P489Rc.1466C>GSubstitution - Missense
ANO6ENSG00000177119ENST00000320560p.V483Vc.1449A>GSubstitution - coding silent
CNTN1ENSG00000018236ENST00000551295p.A399Ac.1197C>TSubstitution - coding silent
CHD2ENSG00000173575ENST00000394196p.K342Rc.1025A>GSubstitution - Missense
STRIP1ENSG00000143093ENST00000369794p.R146Lc.437G>TSubstitution - Missense
ENST00000298047_v61p.T2890Nc.8669C>ASubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.E664fs*32c.1989delGDeletion - Frameshift
PIK3R3ENSG00000117461ENST00000372006p.P351Ac.1051C>GSubstitution - Missense
ELAVL4ENSG00000162374ENST00000371823p.P234Tc.700C>ASubstitution - Missense
FRMD6ENSG00000139926ENST00000395718p.L147Lc.441G>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000359929p.R751Lc.2252G>TSubstitution - Missense
ENST00000358674p.R643Rc.1927C>ASubstitution - coding silent
SOX6ENSG00000110693ENST00000316399p.A503Vc.1508C>TSubstitution - Missense
KCNN2ENSG00000080709ENST00000512097p.P261Qc.782C>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.D103Yc.307G>TSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.A1715Ac.5145G>CSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.G775Cc.2323G>TSubstitution - Missense
KRT74ENSG00000170484ENST00000305620p.L382Mc.1144C>ASubstitution - Missense
C14orf23ENSG00000186960ENST00000399387p.E34*c.100G>TSubstitution - Nonsense
WDR96ENSG00000197748ENST00000357060p.Q1433Lc.4298A>TSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.?c.957-2A>GUnknown
FLRT1ENSG00000126500ENST00000246841p.I611Ic.1833C>ASubstitution - coding silent
POGZENSG00000143442ENST00000491586p.A1207Vc.3620C>TSubstitution - Missense
TPH2ENSG00000139287ENST00000333850p.Q452Kc.1354C>ASubstitution - Missense
MTORENSG00000198793ENST00000361445p.?c.7528+7G>TUnknown
MICU2ENSG00000165487ENST00000382374p.K427Ic.1280A>TSubstitution - Missense
ENST00000339740p.S103Sc.309C>TSubstitution - coding silent
CNIH1ENSG00000100528ENST00000216416p.L34Lc.102G>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370725p.D265Yc.793G>TSubstitution - Missense
WLSENSG00000116729ENST00000262348p.P263Ac.787C>GSubstitution - Missense
TAS1R1ENSG00000173662ENST00000333172p.M383Lc.1147A>TSubstitution - Missense
ZNF846ENSG00000196605ENST00000397902p.G70*c.208G>TSubstitution - Nonsense
XM_373367.2p.R201Pc.602G>CSubstitution - Missense
AF381545.1p.H1030Yc.3088C>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.S730Cc.2188A>TSubstitution - Missense
TSGA13ENSG00000213265ENST00000356588p.Q265Ec.793C>GSubstitution - Missense
SLC6A4ENSG00000108576ENST00000261707p.G517Vc.1550G>TSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.K489Nc.1467G>CSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.T429Tc.1287G>TSubstitution - coding silent
CTIFENSG00000134030ENST00000256413p.E295Ec.885G>ASubstitution - coding silent
SKA1ENSG00000154839ENST00000285116p.S154Sc.462C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.P20763Qc.62288C>ASubstitution - Missense
RFPL3ENSG00000128276ENST00000397468p.Q95Lc.284A>TSubstitution - Missense
ENST00000314395p.R366Wc.1096C>TSubstitution - Missense
IL18RAPENSG00000115607ENST00000264260p.P524Tc.1570C>ASubstitution - Missense
FLT4ENSG00000037280ENST00000261937p.K373Kc.1119G>ASubstitution - coding silent
CNOT1ENSG00000125107ENST00000441024p.V1175Mc.3523G>ASubstitution - Missense
MARCOENSG00000019169ENST00000327097p.S230Rc.690C>GSubstitution - Missense
SU_SPEGp.P1373Rc.4118C>GSubstitution - Missense
ERCC2ENSG00000104884ENST00000391945p.L379Vc.1135C>GSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.?c.2541+6G>CUnknown
SLC6A1ENSG00000157103ENST00000287766p.G203Wc.607G>TSubstitution - Missense
NCKAP5ENSG00000176771ENST00000405974p.T182Tc.546C>ASubstitution - coding silent
CYLC1ENSG00000183035ENST00000329312p.H32Nc.94C>ASubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.G296Vc.887G>TSubstitution - Missense
ENST00000428593p.G286Rc.856G>CSubstitution - Missense
NTRK2ENSG00000148053ENST00000376214p.K308Qc.922A>CSubstitution - Missense
ENST00000316490p.W3790Rc.11368T>CSubstitution - Missense
DPYSENSG00000147647ENST00000351513p.T321Tc.963C>GSubstitution - coding silent
TRIM40ENSG00000204614ENST00000307859p.V42Vc.126G>ASubstitution - coding silent
KCNH7ENSG00000184611ENST00000328032p.S342*c.1025C>GSubstitution - Nonsense
RESTENSG00000084093ENST00000309042p.V425Vc.1275G>TSubstitution - coding silent
USP20ENSG00000136878ENST00000315480p.P414Pc.1242C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.G844Ac.2531G>CSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.L1578*c.4733T>ASubstitution - Nonsense
CNTRLENSG00000119397ENST00000373855p.L1075Lc.3223C>TSubstitution - coding silent
OR5D16ENSG00000205029ENST00000378396p.N130Kc.390T>ASubstitution - Missense
KLHL12ENSG00000117153ENST00000435533p.C149Sc.446G>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S4143Sc.12429G>TSubstitution - coding silent
SPOCK3ENSG00000196104ENST00000421836p.P98Hc.293C>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.P583Tc.1747C>ASubstitution - Missense
SPEF2ENSG00000152582ENST00000282469p.T135Tc.405T>ASubstitution - coding silent
UCHL5ENSG00000116750ENST00000367449p.L74Rc.221T>GSubstitution - Missense
SEPT4ENSG00000108387ENST00000412945p.?c.993+5G>AUnknown
SEPT4ENSG00000108387ENST00000393086p.?c.960+5G>AUnknown
SCN3AENSG00000153253ENST00000409101p.L1050Ic.3148C>ASubstitution - Missense
RHAGENSG00000112077ENST00000371175p.G21Vc.62G>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.P414Pc.1242C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.D1021Dc.3063C>TSubstitution - coding silent
PXDNENSG00000130508ENST00000252804p.R75Ic.224G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.A399Ac.1197C>TSubstitution - coding silent
KRT85ENSG00000135443ENST00000257901p.E152*c.454G>TSubstitution - Nonsense
LGR6ENSG00000133067ENST00000255432p.Q195Rc.584A>GSubstitution - Missense
PYGBENSG00000100994ENST00000428458p.?c.568+9G>CUnknown
SLC25A23ENSG00000125648ENST00000334510p.R239Hc.716G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.L352Lc.1056G>CSubstitution - coding silent
ACSL6ENSG00000164398ENST00000379249p.G342Sc.1024G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.S185Ic.554G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.H7979Hc.23937C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.S215Ic.644G>TSubstitution - Missense
CALN1ENSG00000183166ENST00000395275p.G259Sc.775G>ASubstitution - Missense
OAS1ENSG00000089127ENST00000452357p.E146*c.436G>TSubstitution - Nonsense
NTSENSG00000133636ENST00000256010p.G95Rc.283G>CSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D5326Nc.15976G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D296Nc.886G>ASubstitution - Missense
ILDR2ENSG00000143195ENST00000271417p.D346Nc.1036G>ASubstitution - Missense
FAM231DENSG00000203815ENST00000369173p.A131Vc.392C>TSubstitution - Missense
CYP2R1ENSG00000186104ENST00000334636p.P395Rc.1184C>GSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.R1482Wc.4444A>TSubstitution - Missense
C14orf39ENSG00000179008ENST00000321731p.S135*c.404C>ASubstitution - Nonsense
ENSG00000273259ENST00000553947p.P267Pc.801C>ASubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.?c.3041+1G>AUnknown
MYO15AENSG00000091536ENST00000205890p.A351Sc.1051G>TSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.D884Yc.2650G>TSubstitution - Missense
PIGOENSG00000165282ENST00000378617p.A518Ac.1554A>GSubstitution - coding silent
SLC19A1ENSG00000173638ENST00000311124p.H569Hc.1707T>CSubstitution - coding silent
BRAFENSG00000157764ENST00000288602p.R362Rc.1084C>ASubstitution - coding silent
CAMKVENSG00000164076ENST00000477224p.A475Dc.1424C>ASubstitution - Missense
ATP5JENSG00000154723ENST00000400099p.R22Lc.65G>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.A4398Ac.13194C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.S10925*c.32774C>ASubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.L25655Vc.76963C>GSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.?c.9364-9C>TUnknown
PDCD6IPENSG00000170248ENST00000307296p.G609*c.1825G>TSubstitution - Nonsense
REG1AENSG00000115386ENST00000233735p.S74Pc.220T>CSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.A4357Tc.13069G>ASubstitution - Missense
ACKR3ENSG00000144476ENST00000272928p.S48Sc.144C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.E1553Qc.4657G>CSubstitution - Missense
SLC8A2ENSG00000118160ENST00000236877p.A95Ec.284C>ASubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.S467Cc.1399A>TSubstitution - Missense
ACSL6ENSG00000164398ENST00000296869p.G367Sc.1099G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R3257Rc.9771G>TSubstitution - coding silent
THADAENSG00000115970ENST00000405975p.Q698Qc.2094G>ASubstitution - coding silent
NAALADL2ENSG00000177694ENST00000454872p.G727Dc.2180G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.L327Lc.979C>TSubstitution - coding silent
ENST00000369268p.A65Sc.193G>TSubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.?c.2702+2_2702+3ins51Unknown
AIFM3ENSG00000183773ENST00000399167p.V462Lc.1384G>CSubstitution - Missense
ZNF280BENSG00000198477ENST00000360412p.T20Nc.59C>ASubstitution - Missense
ACVR1CENSG00000123612ENST00000243349p.?c.1226-3C>TUnknown
RIMS4ENSG00000101098ENST00000372851p.R36Rc.108G>TSubstitution - coding silent
RBMS3ENSG00000144642ENST00000456853p.P384Lc.1151C>TSubstitution - Missense
ZNF382ENSG00000161298ENST00000439428p.L86Sc.257T>CSubstitution - Missense
ADAM19ENSG00000135074ENST00000430702p.P324Hc.971C>ASubstitution - Missense
CYTH1ENSG00000108669ENST00000446868p.?c.892-2A>TUnknown
RAI1ENSG00000108557ENST00000261641p.A657Ac.1971G>CSubstitution - coding silent
UTYENSG00000183878ENST00000329134p.M459Ic.1377G>TSubstitution - Missense
TMC6ENSG00000141524ENST00000322914p.D763Nc.2287G>ASubstitution - Missense
MC2RENSG00000185231ENST00000399821p.L83Mc.247C>ASubstitution - Missense
PMP2ENSG00000147588ENST00000256103p.T74Tc.222C>TSubstitution - coding silent
NM_003319p.S10800*c.32399C>ASubstitution - Nonsense
EPHA6ENSG00000080224ENST00000502694p.D253Nc.757G>ASubstitution - Missense
SLC16A6ENSG00000108932ENST00000327268p.L200Ic.598C>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.R2384Rc.7152G>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.C4239Fc.12716G>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.V672Ic.2014G>ASubstitution - Missense
CD226ENSG00000150637ENST00000280200p.Q161fs*3c.482delADeletion - Frameshift
PPM1BENSG00000138032ENST00000282412p.?c.847-2A>TUnknown
CDKL3ENSG00000006837ENST00000523832p.R164Hc.491G>ASubstitution - Missense
ENST00000571252_v68p.T488Tc.1464T>CSubstitution - coding silent
ENST00000316490_v65p.G2557Wc.7669G>TSubstitution - Missense
ADCYAP1R1ENSG00000078549ENST00000304166p.P55Lc.164C>TSubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.?c.3379-4G>TUnknown
FAM83BENSG00000168143ENST00000306858p.L322Ic.964C>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.G844Ac.2531G>CSubstitution - Missense
DDX4ENSG00000152670ENST00000511853p.?c.1268+5G>AUnknown
C10orf107ENSG00000183346ENST00000389639p.W24Sc.71G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.Q667Kc.1999C>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.R751Lc.2252G>TSubstitution - Missense
CDK11BENSG00000248333ENST00000317673p.R41Wc.121C>TSubstitution - Missense
MYBENSG00000118513ENST00000316528p.M706Ic.2118G>TSubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.G998Vc.2993G>TSubstitution - Missense
SYBUENSG00000147642ENST00000422135p.A615Ac.1845T>CSubstitution - coding silent
OR6C75ENSG00000187857ENST00000343399p.H174Dc.520C>GSubstitution - Missense
TTC40ENSG00000171811ENST00000263170p.N22Nc.66C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.N1861Nc.5583C>TSubstitution - coding silent
MS4A4AENSG00000110079ENST00000395016p.V123Ec.368T>ASubstitution - Missense
NM_031277.1p.F162Lc.486C>GSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.Q644*c.1930C>TSubstitution - Nonsense
ASTN1ENSG00000152092ENST00000361833p.L681Lc.2043C>ASubstitution - coding silent
DACT1ENSG00000165617ENST00000335867p.P291Ac.871C>GSubstitution - Missense
SEC23AENSG00000100934ENST00000536508p.G157Vc.470G>TSubstitution - Missense
NINENSG00000100503ENST00000382041p.?c.982-1G>CUnknown
CERS3ENSG00000154227ENST00000284382p.N85Kc.255T>GSubstitution - Missense
PDE4BENSG00000184588ENST00000423207p.R579Wc.1735C>TSubstitution - Missense
ABHD13ENSG00000139826ENST00000375898p.S20Sc.60A>TSubstitution - coding silent
NT5C1BENSG00000185013ENST00000359846p.A145Vc.434C>TSubstitution - Missense
NT5C1BENSG00000185013ENST00000416783p.A162Vc.485C>TSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.?c.1951-9C>AUnknown
ENSG00000129951ENST00000359894p.?c.599+7C>AUnknown
RPRD1BENSG00000101413ENST00000373433p.A245Ac.735A>CSubstitution - coding silent
SIGLEC7ENSG00000168995ENST00000317643p.W184Sc.551G>CSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.L383Lc.1149G>TSubstitution - coding silent
FLNCENSG00000128591ENST00000325888p.L1385Lc.4153C>TSubstitution - coding silent
ATP8A1ENSG00000124406ENST00000264449p.D127Hc.379G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.P2057Qc.6170C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.S17297*c.51890C>ASubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.P27068Qc.81203C>ASubstitution - Missense
RELENSG00000162924ENST00000295025p.T324Tc.972A>GSubstitution - coding silent
AFTPHENSG00000119844ENST00000238856p.N265Sc.794A>GSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.V1017Lc.3049G>CSubstitution - Missense
PCOLCE2ENSG00000163710ENST00000295992p.?c.193-7T>CUnknown
KIF15ENSG00000163808ENST00000326047p.E389Dc.1167A>TSubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.D1309Nc.3925G>ASubstitution - Missense
USP51ENSG00000247746ENST00000500968p.Q208Qc.624G>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000504220p.L14Ic.40C>ASubstitution - Missense
DPPA5ENSG00000203909ENST00000370370p.T80Tc.240C>GSubstitution - coding silent
SLC4A1ENSG00000004939ENST00000262418p.G380Gc.1140G>TSubstitution - coding silent
EYA4ENSG00000112319ENST00000367895p.S333Sc.999C>ASubstitution - coding silent
PCDHGA4ENSG00000262576ENST00000571252p.T488Tc.1464T>CSubstitution - coding silent
DUSP14ENSG00000161326ENST00000394389p.A124Vc.371C>TSubstitution - Missense
ENST00000309900p.G188Wc.562G>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.R8472Cc.25414C>TSubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.A657Ac.1971G>CSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000396105p.?c.2959+10T>CUnknown
PPM1DENSG00000170836ENST00000305921p.R557Lc.1670G>TSubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.T1032Tc.3096G>CSubstitution - coding silent
TCF4ENSG00000196628ENST00000398339p.G460Rc.1378G>CSubstitution - Missense
TAS2R38ENSG00000257138ENST00000547270p.A294Sc.880G>TSubstitution - Missense
HIST1H1AENSG00000124610ENST00000244573p.P207Ac.619C>GSubstitution - Missense
PYGBENSG00000100994ENST00000216962p.?c.2312+9G>CUnknown
KIR3DL2ENSG00000240403ENST00000326321p.T429Tc.1287G>TSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.A4239Ac.12717C>TSubstitution - coding silent
MTERFD2ENSG00000122085ENST00000391980p.L29Lc.87T>GSubstitution - coding silent
ZNRF4ENSG00000105428ENST00000222033p.M71Ic.213G>TSubstitution - Missense
ZNF512ENSG00000243943ENST00000355467p.K204fs*9c.607delGDeletion - Frameshift
ZNF705AENSG00000196946ENST00000402465p.I14fs*10c.40delADeletion - Frameshift
ZNF814ENSG00000204514ENST00000435989p.A190Tc.568G>ASubstitution - Missense
ENST00000346567p.L112Mc.334C>ASubstitution - Missense
ENST00000342345p.T618Tc.1854T>ASubstitution - coding silent
TRANK1ENSG00000168016ENST00000429976p.R2543Cc.7627C>TSubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.T39Ic.116C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.H4826Nc.14476C>ASubstitution - Missense
NFATC1ENSG00000131196ENST00000591814p.S406Fc.1217C>TSubstitution - Missense
ALDH1A1ENSG00000165092ENST00000297785p.G272Rc.814G>CSubstitution - Missense
FAM171A2ENSG00000161682ENST00000293443p.V106Vc.318G>CSubstitution - coding silent
ZBBXENSG00000169064ENST00000392766p.D784Nc.2350G>ASubstitution - Missense
MYBENSG00000118513ENST00000341911p.M741Ic.2223G>TSubstitution - Missense
EEF2ENSG00000167658ENST00000309311p.I469Ic.1407T>CSubstitution - coding silent
TNS3ENSG00000136205ENST00000311160p.D480Dc.1440C>TSubstitution - coding silent
HTR5AENSG00000157219ENST00000287907p.S37Wc.110C>GSubstitution - Missense
CEACAM4ENSG00000105352ENST00000221954p.?c.425-565_735del3004Unknown
FCGBPENSG00000090920ENST00000221347p.S1438Ic.4313G>TSubstitution - Missense
ABCB11ENSG00000073734ENST00000263817p.R487Cc.1459C>TSubstitution - Missense
TGENSG00000042832ENST00000220616p.R979Lc.2936G>TSubstitution - Missense
DNAJB11ENSG00000090520ENST00000439351p.A147Sc.439G>TSubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.S346Sc.1038G>TSubstitution - coding silent
CRB1ENSG00000134376ENST00000535699p.S409Sc.1227C>ASubstitution - coding silent
PHACTR1ENSG00000112137ENST00000434977p.G53Wc.157G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T674Tc.2022A>GSubstitution - coding silent
TFECENSG00000105967ENST00000393485p.L61Fc.183A>TSubstitution - Missense
ENST00000545858p.R65Lc.194G>TSubstitution - Missense
SSH1ENSG00000084112ENST00000326470p.E109Dc.327G>CSubstitution - Missense
PEX16ENSG00000121680ENST00000241041p.T318Tc.954G>TSubstitution - coding silent
CPEB3ENSG00000107864ENST00000265997p.L424Lc.1270T>CSubstitution - coding silent
PDE1BENSG00000123360ENST00000243052p.L56Qc.167T>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.T4227Tc.12681G>TSubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.S1915Rc.5745T>ASubstitution - Missense
PLEKHA7ENSG00000166689ENST00000355661p.A272Sc.814G>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.G2584Vc.7751G>TSubstitution - Missense
PLA2G12BENSG00000138308ENST00000373032p.S152Sc.456C>TSubstitution - coding silent
C10orf71ENSG00000177354ENST00000323868p.P370Hc.1109C>ASubstitution - Missense
CRAMP1LENSG00000007545ENST00000436138p.K882*c.2644A>TSubstitution - Nonsense
NTNG1ENSG00000162631ENST00000370074p.Y286*c.858C>ASubstitution - Nonsense
UCHL5ENSG00000116750ENST00000367455p.L74Rc.221T>GSubstitution - Missense
ADAM15ENSG00000143537ENST00000356955p.Q530Kc.1588C>ASubstitution - Missense
OR4M2ENSG00000182974ENST00000332663p.A4Tc.10G>ASubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.T1692Sc.5075C>GSubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.G1747Cc.5239G>TSubstitution - Missense
AIM1LENSG00000176092ENST00000527815p.P302Lc.905C>TSubstitution - Missense
DNAJC21ENSG00000168724ENST00000303525p.Q141*c.421C>TSubstitution - Nonsense
ITGAVENSG00000138448ENST00000261023p.E153fs*16c.455_456insGInsertion - Frameshift
AMOTENSG00000126016ENST00000371959p.Q1073Pc.3218A>CSubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.Y281*c.843C>ASubstitution - Nonsense
TP53ENSG00000141510ENST00000455263p.S215Ic.644G>TSubstitution - Missense
SCARA3ENSG00000168077ENST00000301904p.R429Qc.1286G>ASubstitution - Missense
PRICKLE2ENSG00000163637ENST00000295902p.L293Lc.877C>TSubstitution - coding silent
MON2ENSG00000061987ENST00000393632p.G902Vc.2705G>TSubstitution - Missense
AMBRA1ENSG00000110497ENST00000458649p.T382Tc.1146G>TSubstitution - coding silent
EXT2ENSG00000151348ENST00000533608p.P503Lc.1508C>TSubstitution - Missense
SDCCAG8ENSG00000054282ENST00000366541p.G199Gc.597C>ASubstitution - coding silent
RNASE3ENSG00000169397ENST00000304639p.R88Lc.263G>TSubstitution - Missense
SLC5A8ENSG00000256870ENST00000536262p.Y281Sc.842A>CSubstitution - Missense
OPCMLENSG00000183715ENST00000331898p.T54Tc.162C>ASubstitution - coding silent
SLC39A12ENSG00000148482ENST00000377374p.E296*c.886G>TSubstitution - Nonsense
LRMPENSG00000118308ENST00000354454p.T134Nc.401C>ASubstitution - Missense
LGR6ENSG00000133067ENST00000367278p.Q247Rc.740A>GSubstitution - Missense
KCNH5ENSG00000140015ENST00000394968p.?c.130+10T>AUnknown
NPAS3ENSG00000151322ENST00000356141p.S687fs*123c.2053delCDeletion - Frameshift
NM_147192.2p.A28Gc.83C>GSubstitution - Missense
GBP5ENSG00000154451ENST00000370459p.L348Lc.1044C>GSubstitution - coding silent
ZNF317ENSG00000130803ENST00000247956p.R197Rc.591C>TSubstitution - coding silent
ELTD1ENSG00000162618ENST00000370742p.H498Qc.1494C>ASubstitution - Missense
LEPRENSG00000116678ENST00000344610p.G820*c.2458G>TSubstitution - Nonsense
RABGGTBENSG00000137955ENST00000319942p.P327Sc.979C>TSubstitution - Missense
ESPNENSG00000187017ENST00000377828p.R113Hc.338G>ASubstitution - Missense
NEXNENSG00000162614ENST00000334785p.K111*c.331A>TSubstitution - Nonsense
INSRENSG00000171105ENST00000302850p.L89Lc.267G>CSubstitution - coding silent
HOXB1ENSG00000120094ENST00000239174p.K226Kc.678G>ASubstitution - coding silent
CYP24A1ENSG00000019186ENST00000216862p.L496Lc.1488A>TSubstitution - coding silent
ZNF726ENSG00000213967ENST00000322487p.C175Fc.524G>TSubstitution - Missense
ENST00000221482p.P709Qc.2126C>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000423507p.L383Lc.1149G>TSubstitution - coding silent
CORO2AENSG00000106789ENST00000343933p.P406Pc.1218C>ASubstitution - coding silent
DCAF4L2ENSG00000176566ENST00000319675p.Y394Yc.1182C>TSubstitution - coding silent
SCARA3ENSG00000168077ENST00000337221p.R429Qc.1286G>ASubstitution - Missense
UMODL1ENSG00000177398ENST00000408989p.G1226Gc.3678G>ASubstitution - coding silent
CBSENSG00000160200ENST00000398158p.E329Ac.986A>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P20696Qc.62087C>ASubstitution - Missense
SPG7ENSG00000197912ENST00000341316p.?c.1151-1G>TUnknown
EHD3ENSG00000013016ENST00000322054p.L188Lc.564C>TSubstitution - coding silent
REG3AENSG00000172016ENST00000393878p.Q25Kc.73C>ASubstitution - Missense
P2RY14ENSG00000174944ENST00000309170p.S237Sc.711C>TSubstitution - coding silent
TEX11ENSG00000120498ENST00000374333p.L256Sc.767T>CSubstitution - Missense
AK9ENSG00000155085ENST00000424296p.K1029Qc.3085A>CSubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.Y996Fc.2987A>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.E2357Vc.7070A>TSubstitution - Missense
MIOXENSG00000100253ENST00000216075p.D263Yc.787G>TSubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.G367Sc.1099G>ASubstitution - Missense
SYBUENSG00000147642ENST00000399066p.A612Ac.1836T>CSubstitution - coding silent
WNK4ENSG00000126562ENST00000246914p.S711Rc.2133C>GSubstitution - Missense
CDKL3ENSG00000006837ENST00000265334p.R164Hc.491G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.?c.23452-8C>TUnknown
IFIH1ENSG00000115267ENST00000263642p.Y461Sc.1382A>CSubstitution - Missense
NEXNENSG00000162614ENST00000457030p.K111*c.331A>TSubstitution - Nonsense
TRPM3ENSG00000083067ENST00000377110p.G859Sc.2575G>ASubstitution - Missense
ALOX5ENSG00000012779ENST00000374391p.V285Vc.855G>CSubstitution - coding silent
SYT15ENSG00000204176ENST00000374321p.?c.944-7T>AUnknown
MGAT4CENSG00000182050ENST00000332156p.F440Cc.1319T>GSubstitution - Missense
NM_015899.1p.M370Ic.1110G>TSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.?c.957-2A>GUnknown
FREM2ENSG00000150893ENST00000280481p.N1048Hc.3142A>CSubstitution - Missense
PADI1ENSG00000142623ENST00000375471p.V272Lc.814G>TSubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.C95Sc.283T>ASubstitution - Missense
KLHL12ENSG00000117153ENST00000367261p.C111Sc.332G>CSubstitution - Missense
DNAJC21ENSG00000168724ENST00000382021p.Q141*c.421C>TSubstitution - Nonsense
BTBD7ENSG00000011114ENST00000298896p.R284Pc.851G>CSubstitution - Missense
AIM1LENSG00000176092ENST00000308182p.P131Lc.392C>TSubstitution - Missense
MSGN1ENSG00000151379ENST00000281047p.R184Sc.550C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T8351Ic.25052C>TSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.L95Sc.284T>CSubstitution - Missense
WDR47ENSG00000085433ENST00000400794p.G893Rc.2677G>CSubstitution - Missense
PTCHD2ENSG00000204624ENST00000389575p.S889Yc.2666C>ASubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.F292Yc.875T>ASubstitution - Missense
ASTN1ENSG00000152092ENST00000367654p.L689Lc.2067C>ASubstitution - coding silent
RNPEPENSG00000176393ENST00000447312p.E131*c.391G>TSubstitution - Nonsense
LGR6ENSG00000133067ENST00000439764p.Q108Rc.323A>GSubstitution - Missense
ENST00000295713_v70p.G930Vc.2789G>TSubstitution - Missense
ESRRGENSG00000196482ENST00000391890p.I333Vc.997A>GSubstitution - Missense
NBPF3ENSG00000142794ENST00000342104p.E228*c.682G>TSubstitution - Nonsense
SERINC2ENSG00000168528ENST00000373710p.Q73Hc.219G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.R1758Rc.5274G>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.G2537Gc.7611G>TSubstitution - coding silent
LEPRENSG00000116678ENST00000371059p.G820*c.2458G>TSubstitution - Nonsense
OMA1ENSG00000162600ENST00000358603p.F17Lc.49T>CSubstitution - Missense
CHD5ENSG00000116254ENST00000378021p.G604Cc.1810G>TSubstitution - Missense
NINENSG00000100503ENST00000453196p.?c.982-1G>CUnknown
MEGF11ENSG00000157890ENST00000360698p.V27Ac.80T>CSubstitution - Missense
B2MENSG00000166710ENST00000544417p.S53Sc.159C>TSubstitution - coding silent
TPSB2ENSG00000197253ENST00000430512p.A72Pc.214G>CSubstitution - Missense
GPR97ENSG00000182885ENST00000333493p.L133Ic.397C>ASubstitution - Missense
ITFG3ENSG00000167930ENST00000450082p.A49Tc.145G>ASubstitution - Missense
ITFG3ENSG00000167930ENST00000442458p.A49Tc.145G>ASubstitution - Missense
MYO1CENSG00000197879ENST00000359786p.L244Lc.732G>TSubstitution - coding silent
MPRIPENSG00000133030ENST00000395811p.R112Pc.335G>CSubstitution - Missense
NEURL4ENSG00000215041ENST00000399464p.T830Ic.2489C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.S215Ic.644G>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000446217p.L992Lc.2976G>ASubstitution - coding silent
BCAS1ENSG00000064787ENST00000371440p.L50Fc.150G>TSubstitution - Missense
ATP5JENSG00000154723ENST00000457143p.R30Lc.89G>TSubstitution - Missense
AIFM3ENSG00000183773ENST00000335375p.V450Lc.1348G>CSubstitution - Missense
MIOXENSG00000100253ENST00000395733p.G219Vc.656G>TSubstitution - Missense
MERTKENSG00000153208ENST00000295408p.K274Ec.820A>GSubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.P591Pc.1773C>ASubstitution - coding silent
ENDOUENSG00000111405ENST00000542202p.D104fs*26c.310delGDeletion - Frameshift
NFASCENSG00000163531ENST00000367172p.G1287fs*>61c.3859delGDeletion - Frameshift
SIPA1L2ENSG00000116991ENST00000308942p.T337delTc.1009_1011delACCDeletion - In frame
CDKL3ENSG00000006837ENST00000521118p.R164Hc.491G>ASubstitution - Missense
ADAM19ENSG00000135074ENST00000394020p.P593Hc.1778C>ASubstitution - Missense
HAVCR1ENSG00000113249ENST00000425854p.T240Tc.720G>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.H7662Hc.22986C>TSubstitution - coding silent
OPRM1ENSG00000112038ENST00000414028p.T314Rc.941C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.D209Hc.625G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.D202Hc.604G>CSubstitution - Missense
MYO6ENSG00000196586ENST00000369981p.R199Lc.596G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.V358Mc.1072G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T531Tc.1593A>GSubstitution - coding silent
FOXP2ENSG00000128573ENST00000403559p.S628Tc.1883G>CSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.S1828Nc.5483G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.A4261Ac.12783C>TSubstitution - coding silent
PLECENSG00000178209ENST00000356346p.A4247Ac.12741C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.P2012Qc.6035C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.A1266Vc.3797C>TSubstitution - Missense
ENST00000373851p.L557Lc.1669C>TSubstitution - coding silent
NTRK2ENSG00000148053ENST00000395882p.K308Qc.922A>CSubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.L14Ic.40C>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.L14Ic.40C>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.V672Ic.2014G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.V672Ic.2014G>ASubstitution - Missense
TEX11ENSG00000120498ENST00000395889p.L271Sc.812T>CSubstitution - Missense
SYTL5ENSG00000147041ENST00000456733p.V572Ac.1715T>CSubstitution - Missense
UTYENSG00000183878ENST00000382896p.M504Ic.1512G>TSubstitution - Missense
OR4C15ENSG00000181939ENST00000314644p.M55Ic.165G>TSubstitution - Missense
KLRC1ENSG00000134545ENST00000359151p.?c.187+2T>AUnknown
CDK11BENSG00000248333ENST00000407249p.R41Wc.121C>TSubstitution - Missense
KELENSG00000197993ENST00000355265p.A554Ac.1662T>GSubstitution - coding silent
TNS3ENSG00000136205ENST00000311160p.?c.3773-4G>TUnknown
ZMIZ2ENSG00000122515ENST00000309315p.A22Ac.66A>GSubstitution - coding silent
ACTBENSG00000075624ENST00000331789p.M123Ic.369G>TSubstitution - Missense
RBAKENSG00000146587ENST00000396912p.K464Ic.1391A>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.G614Dc.1841G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.G392Dc.1175G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.G422Dc.1265G>ASubstitution - Missense
C8orf74ENSG00000171060ENST00000304519p.I84Nc.251T>ASubstitution - Missense
ENST00000316490p.G2509Wc.7525G>TSubstitution - Missense
MRI1ENSG00000037757ENST00000319545p.?c.808+8G>AUnknown
ILVBLENSG00000105135ENST00000263383p.P613Pc.1839G>TSubstitution - coding silent
ENST00000304105p.L43Vc.127C>GSubstitution - Missense
ADAENSG00000196839ENST00000372874p.V165Vc.495G>TSubstitution - coding silent
HNF4AENSG00000101076ENST00000316099p.T24Sc.71C>GSubstitution - Missense
HNF4AENSG00000101076ENST00000443598p.T24Sc.71C>GSubstitution - Missense
EYA2ENSG00000064655ENST00000327619p.Y69Yc.207C>TSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.?c.23452-8C>TUnknown
NEBENSG00000183091ENST00000409198p.?c.18349-8C>TUnknown
NEBENSG00000183091ENST00000427231p.E7681Dc.23043A>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.E7681Dc.23043A>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.E5980Dc.17940A>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.R8472Cc.25414C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.R6616Cc.19846C>TSubstitution - Missense
GALNT13ENSG00000144278ENST00000392825p.S384Yc.1151C>ASubstitution - Missense
GALNT13ENSG00000144278ENST00000409237p.S384Yc.1151C>ASubstitution - Missense
GSX2ENSG00000180613ENST00000326902p.D195Ec.585C>ASubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.?c.2702+3_2702+4ins51Unknown
NM_002847.2p.M735Ic.2205G>TSubstitution - Missense
NM_002847.2p.M735Kc.2204T>ASubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.M758Kc.2273T>ASubstitution - Missense
NM_007349.2p.T611Rc.1832C>GSubstitution - Missense
PAXIP1ENSG00000157212ENST00000404141p.T645Rc.1934C>GSubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.L1099Ic.3295C>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.L1578*c.4733T>ASubstitution - Nonsense
TGENSG00000042832ENST00000220616p.Y126Sc.377A>CSubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.Y690Nc.2068T>ASubstitution - Missense
LDB2ENSG00000169744ENST00000304523p.Y328Cc.983A>GSubstitution - Missense
ENST00000330241p.D158Yc.472G>TSubstitution - Missense
TKTL2ENSG00000151005ENST00000280605p.L438Ic.1312C>ASubstitution - Missense
AGAENSG00000038002ENST00000264595p.E340Ec.1020G>ASubstitution - coding silent
SLIT3ENSG00000184347ENST00000519560p.R1495Rc.4483C>ASubstitution - coding silent
ADAMTS16ENSG00000145536ENST00000274181p.V737Lc.2209G>CSubstitution - Missense
NM_139056.1p.V737Lc.2209G>CSubstitution - Missense
ABHD16AENSG00000204427ENST00000395952p.T129Nc.386C>ASubstitution - Missense
DXOENSG00000204348ENST00000375349p.L49Pc.146T>CSubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.S128Ic.383G>TSubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.R93Cc.277C>TSubstitution - Missense
TINAGENSG00000137251ENST00000259782p.?c.749-9T>AUnknown
DNAH6ENSG00000115423ENST00000398278p.R787Wc.2359C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R158Lc.473G>TSubstitution - Missense
C10orf76ENSG00000120029ENST00000370033p.R645Lc.1934G>TSubstitution - Missense
INPP5FENSG00000198825ENST00000369080p.Q491Qc.1473G>ASubstitution - coding silent
ARHGAP22ENSG00000128805ENST00000417247p.R573Rc.1719G>CSubstitution - coding silent
SYT15ENSG00000204176ENST00000374323p.?c.1103-7T>AUnknown
OPN4ENSG00000122375ENST00000443292p.A443Tc.1327G>ASubstitution - Missense
ENST00000394210p.L410Lc.1228T>CSubstitution - coding silent
OR52B6ENSG00000187747ENST00000345043p.S236Sc.708C>ASubstitution - coding silent
BTBD11ENSG00000151136ENST00000357167p.A98Vc.293C>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000423696p.A550Tc.1648G>ASubstitution - Missense
SLC2A13ENSG00000151229ENST00000280871p.A428Sc.1282G>TSubstitution - Missense
ENST00000255326p.F162Lc.486C>GSubstitution - Missense
GSTM4ENSG00000168765ENST00000326729p.?c.113-5G>TUnknown
AKNAD1ENSG00000162641ENST00000357393p.?c.1180+9C>AUnknown
PTGR1ENSG00000106853ENST00000309195p.R3Gc.7C>GSubstitution - Missense
VNN1ENSG00000112299ENST00000367928p.?c.211-2A>TUnknown
ENST00000432934p.G167Wc.499G>TSubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.T309Nc.926C>ASubstitution - Missense
MYO6ENSG00000196586ENST00000369977p.R199Lc.596G>TSubstitution - Missense
IBTKENSG00000005700ENST00000306270p.R858Lc.2573G>TSubstitution - Missense
ELOVL4ENSG00000118402ENST00000369816p.P41Tc.121C>ASubstitution - Missense
ENST00000237177p.Y232delYc.692_694delATTDeletion - In frame
CGAENSG00000135346ENST00000369582p.H20Rc.59A>GSubstitution - Missense
PPM1BENSG00000138032ENST00000282412p.?c.847-2A>TUnknown
WNK4ENSG00000126562ENST00000246914p.S259Sc.777G>ASubstitution - coding silent
ANKFY1ENSG00000185722ENST00000574367p.A1000Ac.3000C>TSubstitution - coding silent
COASYENSG00000068120ENST00000393818p.I540Vc.1618A>GSubstitution - Missense
ENST00000293443_v68p.V290Vc.870G>CSubstitution - coding silent
ENST00000341011p.?c.200-3T>CUnknown
CACNA1GENSG00000006283ENST00000359106p.L1768Mc.5302C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.L1734Mc.5200C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.L1768Mc.5302C>ASubstitution - Missense
ITGA2BENSG00000005961ENST00000262407p.G215Gc.645G>TSubstitution - coding silent
NLRP1ENSG00000091592ENST00000572272p.A1365Ac.4095C>ASubstitution - coding silent
KIF2BENSG00000141200ENST00000268919p.R578Wc.1732A>TSubstitution - Missense
SEPT4ENSG00000108387ENST00000317268p.?c.1017+5G>AUnknown
BZRAP1ENSG00000005379ENST00000343736p.R872Lc.2615G>TSubstitution - Missense
BZRAP1ENSG00000005379ENST00000355701p.R872Lc.2615G>TSubstitution - Missense
MAGENSG00000105695ENST00000392213p.G319Wc.955G>TSubstitution - Missense
ZNF382ENSG00000161298ENST00000292928p.L87Sc.260T>CSubstitution - Missense
ZFP14ENSG00000142065ENST00000270001p.R212Hc.635G>ASubstitution - Missense
ZNF573ENSG00000189144ENST00000339503p.C46Fc.137G>TSubstitution - Missense
ZNF573ENSG00000189144ENST00000590414p.C104Fc.311G>TSubstitution - Missense
CATSPERGENSG00000099338ENST00000312265p.?c.1851-3C>AUnknown
CATSPERGENSG00000099338ENST00000409235p.K1104Kc.3312G>ASubstitution - coding silent
LRRIQ4ENSG00000188306ENST00000340806p.C277*c.831C>ASubstitution - Nonsense
ZBBXENSG00000169064ENST00000455345p.D823Nc.2467G>ASubstitution - Missense
LARSENSG00000133706ENST00000394434p.P242Sc.724C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.R1593Wc.4777C>TSubstitution - Missense
GTF3C4ENSG00000125484ENST00000372146p.P592Lc.1775C>TSubstitution - Missense
ANXA1ENSG00000135046ENST00000456643p.A110Ac.330C>ASubstitution - coding silent
FBXW5ENSG00000159069ENST00000325285p.S203Lc.608C>TSubstitution - Missense
NTRK2ENSG00000148053ENST00000376214p.K308Qc.922A>CSubstitution - Missense
UBQLN1ENSG00000135018ENST00000376395p.?c.1249-9G>AUnknown
PLD3ENSG00000105223ENST00000409587p.D316Hc.946G>CSubstitution - Missense
NEUROD6ENSG00000164600ENST00000297142p.Q192Hc.576G>TSubstitution - Missense
MAGEC3ENSG00000165509ENST00000298296p.G362Wc.1084G>TSubstitution - Missense
GPR101ENSG00000165370ENST00000298110p.S191Rc.573C>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.G740Gc.2220A>TSubstitution - coding silent
AFF2ENSG00000155966ENST00000286437p.G381Gc.1143A>TSubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.G740Gc.2220A>TSubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.P132Hc.395C>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.P132Hc.395C>ASubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.P496Pc.1488G>CSubstitution - coding silent
HAVCR1ENSG00000113249ENST00000339252p.T240Tc.720G>CSubstitution - coding silent
NM_023038.2p.P592Hc.1775C>ASubstitution - Missense
ADAM19ENSG00000135074ENST00000257527p.P591Hc.1772C>ASubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.L352Lc.1056G>CSubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.L231Lc.693G>CSubstitution - coding silent
ENST00000388903p.L185Lc.555G>CSubstitution - coding silent
COG5ENSG00000164597ENST00000297135p.Y664Cc.1991A>GSubstitution - Missense
THAP5ENSG00000177683ENST00000415914p.Y324Fc.971A>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.V358Mc.1072G>ASubstitution - Missense
ING3ENSG00000071243ENST00000315870p.Q350Hc.1050G>TSubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.W1073*c.3218G>ASubstitution - Nonsense
TFECENSG00000105967ENST00000265440p.L90Fc.270A>TSubstitution - Missense
GPR85ENSG00000164604ENST00000297146p.G101Rc.301G>CSubstitution - Missense
FAM131BENSG00000159784ENST00000443739p.E115Qc.343G>CSubstitution - Missense
KLC4ENSG00000137171ENST00000394056p.L406Lc.1218G>TSubstitution - coding silent
TBCCENSG00000124659ENST00000372876p.K301Nc.903G>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.V937Ic.2809G>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.G71Rc.211G>ASubstitution - Missense
CDKN2AENSG00000147889ENST00000446177p.?c.457+1G>TUnknown
IFNA6ENSG00000120235ENST00000380210p.R168Ic.503G>TSubstitution - Missense
IFNW1ENSG00000177047ENST00000380229p.P62Sc.184C>TSubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.H32Nc.94C>ASubstitution - Missense
P2RY10ENSG00000078589ENST00000544091p.L89Ic.265C>ASubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.E698Kc.2092G>ASubstitution - Missense
B3GNT3ENSG00000179913ENST00000318683p.?c.567+9G>TUnknown
BLOC1S3ENSG00000189114ENST00000433642p.R201Pc.602G>CSubstitution - Missense
ENST00000317082_v61p.K179*c.535A>TSubstitution - Nonsense
IZUMO1ENSG00000182264ENST00000332955p.A272Ac.816G>CSubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.?c.4353+4G>TUnknown
ZKSCAN2ENSG00000155592ENST00000328086p.V244Vc.732G>TSubstitution - coding silent
ITFG3ENSG00000167930ENST00000301678p.A49Tc.145G>ASubstitution - Missense
LCTENSG00000115850ENST00000264162p.P858Lc.2573C>TSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.T343Tc.1029C>ASubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.D512Yc.1534G>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.V2078Lc.6232G>TSubstitution - Missense
BOCENSG00000144857ENST00000355385p.R374Mc.1121G>TSubstitution - Missense
C3orf17ENSG00000163608ENST00000314400p.E199Qc.595G>CSubstitution - Missense
NM_006596.3p.E2235Qc.6703G>CSubstitution - Missense
NUP210ENSG00000132182ENST00000254508p.A736Ac.2208G>TSubstitution - coding silent
DBR1ENSG00000138231ENST00000260803p.E93Ec.279G>ASubstitution - coding silent
SLC9A9ENSG00000181804ENST00000316549p.T453Pc.1357A>CSubstitution - Missense
NM_001184p.R1696Gc.5086A>GSubstitution - Missense
NM_001184p.L2428Fc.7282C>TSubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.K199Nc.597A>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R3257Rc.9771G>TSubstitution - coding silent
TLR3ENSG00000164342ENST00000296795p.P142Tc.424C>ASubstitution - Missense
CCKARENSG00000163394ENST00000295589p.M226Ic.678G>CSubstitution - Missense
NM_133638.1p.A1026Pc.3076G>CSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.G428Vc.1283G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.G428Vc.1283G>TSubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.S102Cc.304A>TSubstitution - Missense
MEF2CENSG00000081189ENST00000424173p.I257Vc.769A>GSubstitution - Missense
MEF2CENSG00000081189ENST00000514028p.I259Vc.775A>GSubstitution - Missense
MEF2CENSG00000081189ENST00000437473p.I259Vc.775A>GSubstitution - Missense
VCANENSG00000038427ENST00000265077p.I3037Ic.9111T>CSubstitution - coding silent
RPA4ENSG00000204086ENST00000373040p.D150Ec.450C>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.V672Ic.2014G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.V672Ic.2014G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.L14Ic.40C>ASubstitution - Missense
MCHR2ENSG00000152034ENST00000369212p.W158Cc.474G>TSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.P1656Pc.4968A>TSubstitution - coding silent
DSELENSG00000171451ENST00000310045p.R375Kc.1124G>ASubstitution - Missense
UTYENSG00000183878ENST00000540140p.M456Ic.1368G>TSubstitution - Missense
NFATC1ENSG00000131196ENST00000329101p.S393Fc.1178C>TSubstitution - Missense
MCHR1ENSG00000128285ENST00000249016p.A327Ac.981C>TSubstitution - coding silent
AK9ENSG00000155085ENST00000355283p.K108Qc.322A>CSubstitution - Missense
CEP57L1ENSG00000183137ENST00000359793p.M337Ic.1011G>TSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.P583Tc.1747C>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.P583Tc.1747C>ASubstitution - Missense
BMP5ENSG00000112175ENST00000370830p.S130Yc.389C>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.A1443Sc.4327G>TSubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.H821Qc.2463C>ASubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.P176Sc.526C>TSubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.P482Tc.1444C>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.C3074*c.9222T>ASubstitution - Nonsense
CSMD3ENSG00000164796ENST00000297405p.C3114Sc.9340T>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.C3114*c.9342T>ASubstitution - Nonsense
COL14A1ENSG00000187955ENST00000297848p.P128Pc.384C>ASubstitution - coding silent
ITGA9ENSG00000144668ENST00000264741p.Q487Hc.1461G>CSubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.R1986Cc.5956C>TSubstitution - Missense
ENSG00000219492ENST00000508324p.I14fs*10c.40delADeletion - Frameshift
CTNND2ENSG00000169862ENST00000304623p.L445Lc.1335G>TSubstitution - coding silent
CNOT1ENSG00000125107ENST00000317147p.V1175Mc.3523G>ASubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.A368Ec.1103C>ASubstitution - Missense
PDP2ENSG00000172840ENST00000311765p.V152Lc.454G>TSubstitution - Missense
SLC12A4ENSG00000124067ENST00000316341p.E33Dc.99G>TSubstitution - Missense
LRRC36ENSG00000159708ENST00000329956p.P516Lc.1547C>TSubstitution - Missense
C2orf78ENSG00000187833ENST00000409561p.T648Tc.1944T>ASubstitution - coding silent
CTNNA2ENSG00000066032ENST00000466387p.A592Dc.1775C>ASubstitution - Missense
REG1AENSG00000115386ENST00000233735p.S115Rc.345T>ASubstitution - Missense
PLSCR4ENSG00000114698ENST00000354952p.A29Pc.85G>CSubstitution - Missense
VEPH1ENSG00000197415ENST00000392832p.C115*c.345C>ASubstitution - Nonsense
VEPH1ENSG00000197415ENST00000494677p.C115*c.345C>ASubstitution - Nonsense
NDST3ENSG00000164100ENST00000296499p.A419Sc.1255G>TSubstitution - Missense
EGFENSG00000138798ENST00000265171p.D472Nc.1414G>ASubstitution - Missense
ENST00000330166p.A4300Tc.12898G>ASubstitution - Missense
TRPC3ENSG00000138741ENST00000379645p.K185Nc.555G>TSubstitution - Missense
TRPC3ENSG00000138741ENST00000264811p.K112Nc.336G>TSubstitution - Missense
INTUENSG00000164066ENST00000296461p.S399Tc.1196G>CSubstitution - Missense
FLT4ENSG00000037280ENST00000393347p.K373Kc.1119G>ASubstitution - coding silent
ENST00000376868p.K183Kc.549G>ASubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.D44Vc.131A>TSubstitution - Missense
RXFP3ENSG00000182631ENST00000330120p.E72Vc.215A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.H8050Hc.24150C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.H7979Hc.23937C>TSubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.M204Ic.612G>TSubstitution - Missense
OPRM1ENSG00000112038ENST00000229768p.T314Rc.941C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.D202Hc.604G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.D209Hc.625G>CSubstitution - Missense
SP8ENSG00000164651ENST00000418710p.S14Wc.41C>GSubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.I457Ic.1371C>ASubstitution - coding silent
HOXA2ENSG00000105996ENST00000222718p.D360Ec.1080C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1553Qc.4657G>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S1828Nc.5483G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S1759Nc.5276G>ASubstitution - Missense
C7orf62ENSG00000164645ENST00000297203p.Y184Hc.550T>CSubstitution - Missense
YY2ENSG00000230797ENST00000429584p.D46Yc.136G>TSubstitution - Missense
ENST00000381114p.S1082Rc.3246T>GSubstitution - Missense
ENST00000381114p.S1082Rc.3246T>GSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.R1377Qc.4130G>ASubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.R1377Qc.4130G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.G758Rc.2272G>CSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.G751Rc.2251G>CSubstitution - Missense
SNTG2ENSG00000172554ENST00000308624p.G251Rc.751G>CSubstitution - Missense
VIL1ENSG00000127831ENST00000248444p.Y64*c.192C>GSubstitution - Nonsense
GPR17ENSG00000144230ENST00000393018p.D156Nc.466G>ASubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.A95Vc.284C>TSubstitution - Missense
BCL11AENSG00000119866ENST00000356842p.A95Vc.284C>TSubstitution - Missense
BCL11AENSG00000119866ENST00000359629p.A95Vc.284C>TSubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.E38*c.112G>TSubstitution - Nonsense
CCDC88AENSG00000115355ENST00000263630p.E38*c.112G>TSubstitution - Nonsense
AFTPHENSG00000119844ENST00000238855p.N265Sc.794A>GSubstitution - Missense
MUC13ENSG00000173702ENST00000311075p.T300Ac.898A>GSubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.S17Pc.49T>CSubstitution - Missense
FAM198AENSG00000144649ENST00000430121p.G41Sc.121G>ASubstitution - Missense
CCRL2ENSG00000121797ENST00000399036p.T125Tc.375T>ASubstitution - coding silent
LZTFL1ENSG00000163818ENST00000296135p.M274Ic.822G>TSubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.?c.850-1G>TUnknown
NBEAL2ENSG00000160796ENST00000292309p.G109Gc.327C>TSubstitution - coding silent
PPARDENSG00000112033ENST00000360694p.V367Fc.1099G>TSubstitution - Missense
ZFAND3ENSG00000156639ENST00000287218p.?c.72-1G>CUnknown
KLC4ENSG00000137171ENST00000259708p.L424Lc.1272G>TSubstitution - coding silent
FZD7ENSG00000155760ENST00000286201p.R449Cc.1345C>TSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.V1167Vc.3501G>TSubstitution - coding silent
OTOFENSG00000115155ENST00000402415p.V477Vc.1431G>TSubstitution - coding silent
OTOFENSG00000115155ENST00000339598p.V420Vc.1260G>TSubstitution - coding silent
FANCD2ENSG00000144554ENST00000419585p.A586Vc.1757C>TSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.Q359Hc.1077G>TSubstitution - Missense
MORC1ENSG00000114487ENST00000232603p.E141Dc.423G>CSubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.T136Mc.407C>TSubstitution - Missense
ENST00000411420p.?c.371+10C>GUnknown
ARMC5ENSG00000140691ENST00000408912p.G924Cc.2770G>TSubstitution - Missense
SPG7ENSG00000197912ENST00000268704p.?c.1151-1G>TUnknown
MYH3ENSG00000109063ENST00000226209p.H1902Lc.5705A>TSubstitution - Missense
ENST00000570743p.H494Qc.1482C>ASubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.H494Qc.1482C>ASubstitution - Missense
GRIN2AENSG00000183454ENST00000396573p.T481Sc.1442C>GSubstitution - Missense
ENST00000354939p.K591*c.1771A>TSubstitution - Nonsense
NLRP12ENSG00000142405ENST00000324134p.?c.289+8G>TUnknown
NLRP12ENSG00000142405ENST00000345770p.?c.289+8G>TUnknown
LAMA5ENSG00000130702ENST00000252999p.Q2427Rc.7280A>GSubstitution - Missense
LENG1ENSG00000105617ENST00000222224p.E207Kc.619G>ASubstitution - Missense
NPBWR2ENSG00000125522ENST00000369768p.G186Vc.557G>TSubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.R657Sc.1971G>TSubstitution - Missense
HPS4ENSG00000100099ENST00000398141p.L4Lc.12C>TSubstitution - coding silent
RFPL3ENSG00000128276ENST00000249007p.Q124Lc.371A>TSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.K1480Kc.4440G>ASubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.K1480Kc.4440G>ASubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.H385Hc.1155T>CSubstitution - coding silent
NM_206943.1p.C973Sc.2917T>ASubstitution - Missense
NM_206943.1p.A1182Ac.3546A>TSubstitution - coding silent
NLRC4ENSG00000091106ENST00000404025p.L139Lc.415C>TSubstitution - coding silent
LTBP1ENSG00000049323ENST00000407925p.A855Ac.2565A>TSubstitution - coding silent
EPHA6ENSG00000080224ENST00000389672p.I673Mc.2019A>GSubstitution - Missense
SU_EPHA6p.I579Mc.1737A>GSubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.D861Nc.2581G>ASubstitution - Missense
SU_EPHA6p.D767Nc.2299G>ASubstitution - Missense
NPNTENSG00000168743ENST00000379987p.V170Fc.508G>TSubstitution - Missense
NPNTENSG00000168743ENST00000305572p.V170Fc.508G>TSubstitution - Missense
TET2ENSG00000168769ENST00000305737p.R123Cc.367C>TSubstitution - Missense
TET2ENSG00000168769ENST00000380013p.R123Cc.367C>TSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.I1616Mc.4848T>GSubstitution - Missense
CPZENSG00000109625ENST00000360986p.L100Qc.299T>ASubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.?c.1681+2T>AUnknown
UNC5DENSG00000156687ENST00000287272p.?c.1666+2T>AUnknown
IDO2ENSG00000188676ENST00000502986p.G279Gc.837G>TSubstitution - coding silent
KAT6AENSG00000083168ENST00000265713p.T215Ac.643A>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.V603Lc.1807G>TSubstitution - Missense
TMEM47ENSG00000147027ENST00000275954p.P134Lc.401C>TSubstitution - Missense
TMEM47ENSG00000147027ENST00000275954p.P134Lc.401C>TSubstitution - Missense
CXorf36ENSG00000147113ENST00000377934p.G171Vc.512G>TSubstitution - Missense
SLC9A7ENSG00000065923ENST00000328306p.T59Ic.176C>TSubstitution - Missense
GPR34ENSG00000171659ENST00000378142p.G146Gc.438A>GSubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.V487Lc.1459G>CSubstitution - Missense
DUS3LENSG00000141994ENST00000309061p.W528Cc.1584G>TSubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.K559Nc.1677G>TSubstitution - Missense
SLC16A6ENSG00000108932ENST00000327268p.L80fs*5c.238delCDeletion - Frameshift
ACADVLENSG00000072778ENST00000356839p.V400Mc.1198G>ASubstitution - Missense
SOX9ENSG00000125398ENST00000245479p.H497Hc.1491C>TSubstitution - coding silent
NXNENSG00000167693ENST00000336868p.V407Lc.1219G>TSubstitution - Missense
SLC39A11ENSG00000133195ENST00000255559p.G117Vc.350G>TSubstitution - Missense
C17orf77ENSG00000182352ENST00000392620p.E185Dc.555G>TSubstitution - Missense
CD300CENSG00000167850ENST00000330793p.P193Pc.579C>TSubstitution - coding silent
SPEM1ENSG00000181323ENST00000323675p.I248Ic.744C>ASubstitution - coding silent
SLC5A7ENSG00000115665ENST00000264047p.S550Rc.1650C>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.R1993Cc.5977C>TSubstitution - Missense
FAM222BENSG00000173065ENST00000452648p.A335Sc.1003G>TSubstitution - Missense
FAM222BENSG00000173065ENST00000341217p.A335Sc.1003G>TSubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.R1440Cc.4318C>TSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.S813*c.2438C>ASubstitution - Nonsense
EFCAB5ENSG00000176927ENST00000394835p.A1243Pc.3727G>CSubstitution - Missense
CDH2ENSG00000170558ENST00000269141p.D262Ec.786C>ASubstitution - Missense
KEAP1ENSG00000079999ENST00000393623p.V168Ic.502G>ASubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.V325Ic.973G>ASubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.V325Ic.973G>ASubstitution - Missense
UMODL1ENSG00000177398ENST00000400424p.G1026Gc.3078G>ASubstitution - coding silent
CBSENSG00000160200ENST00000398168p.E329Ac.986A>CSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.?c.1105+10C>TUnknown
UGT2B7ENSG00000171234ENST00000305231p.V501Ec.1502T>ASubstitution - Missense
UGT2B11ENSG00000213759ENST00000446444p.L11Lc.33G>TSubstitution - coding silent
SLC4A4ENSG00000080493ENST00000425175p.I514Ic.1542C>ASubstitution - coding silent
SLC4A4ENSG00000080493ENST00000340595p.I470Ic.1410C>ASubstitution - coding silent
ABCC11ENSG00000121270ENST00000356608p.F1105Fc.3315C>TSubstitution - coding silent
C16orf78ENSG00000166152ENST00000299191p.A101Sc.301G>TSubstitution - Missense
IRX5ENSG00000176842ENST00000394636p.L97Fc.291G>TSubstitution - Missense
NM_025134.3p.M2714Tc.8141T>CSubstitution - Missense
KRT33AENSG00000006059ENST00000007735p.V345Lc.1033G>TSubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.L707Lc.2121G>TSubstitution - coding silent
KRTAP11-1ENSG00000182591ENST00000332378p.S118Yc.353C>ASubstitution - Missense
KRTAP15-1ENSG00000186970ENST00000334067p.S74Yc.221C>ASubstitution - Missense
IFNAR1ENSG00000142166ENST00000270139p.P230Sc.688C>TSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.P1427Rc.4280C>GSubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.R423Rc.1269G>TSubstitution - coding silent
ATP8A1ENSG00000124406ENST00000381668p.D127Hc.379G>CSubstitution - Missense
TECENSG00000135605ENST00000381501p.P587Lc.1760C>TSubstitution - Missense
ERMARDENSG00000130023ENST00000366773p.L530Lc.1590G>TSubstitution - coding silent
WDR27ENSG00000184465ENST00000448612p.?c.784-2A>CUnknown
WDR27ENSG00000184465ENST00000333572p.?c.784-2A>CUnknown
SLC17A3ENSG00000124564ENST00000397060p.L43Lc.129C>GSubstitution - coding silent
SLC17A3ENSG00000124564ENST00000360657p.L43Lc.129C>GSubstitution - coding silent
ENST00000377989p.W428*c.1283G>ASubstitution - Nonsense
DEKENSG00000124795ENST00000397239p.K317Rc.950A>GSubstitution - Missense
MKRN1ENSG00000133606ENST00000255977p.E286*c.856G>TSubstitution - Nonsense
TRPV6ENSG00000165125ENST00000359396p.R153Lc.458G>TSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.P1092Tc.3274C>ASubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.A312Vc.935C>TSubstitution - Missense
ANKIB1ENSG00000001629ENST00000265742p.?c.2053-7A>GUnknown
AKAP9ENSG00000127914ENST00000356239p.V1990Lc.5968G>CSubstitution - Missense
TMEM130ENSG00000166448ENST00000339375p.L127Fc.379C>TSubstitution - Missense
KPNA7ENSG00000185467ENST00000327442p.?c.557-7T>GUnknown
PLECENSG00000178209ENST00000436759p.A4288Ac.12864C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.A4261Ac.12783C>TSubstitution - coding silent
BOP1ENSG00000170727ENST00000307404p.G93Vc.278G>TSubstitution - Missense
PARP10ENSG00000178685ENST00000313028p.V382Mc.1144G>ASubstitution - Missense
LRRC14ENSG00000160959ENST00000292524p.R254Qc.761G>ASubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.L440Pc.1319T>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.A1311Vc.3932C>TSubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.S412Sc.1236T>CSubstitution - coding silent
C20orf141ENSG00000258713ENST00000380589p.A107Ac.321C>ASubstitution - coding silent
CECR2ENSG00000099954ENST00000400585p.P1167Pc.3501G>ASubstitution - coding silent
ENSG00000091436ENST00000338983p.G23Cc.67G>TSubstitution - Missense
ENSG00000091436ENST00000409176p.G23Cc.67G>TSubstitution - Missense
ENST00000356127p.S31014Cc.93041C>GSubstitution - Missense
NM_003319p.S24519Cc.73556C>GSubstitution - Missense
NM_003319p.P20571Qc.61712C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.L19283Vc.57847C>GSubstitution - Missense
NM_003319p.L19158Vc.57472C>GSubstitution - Missense
ENST00000356127p.S17295*c.51884C>ASubstitution - Nonsense
TRAK2ENSG00000115993ENST00000332624p.K769Qc.2305A>CSubstitution - Missense
ICA1LENSG00000163596ENST00000358299p.E341Dc.1023A>TSubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.V299Lc.895G>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.S103Sc.309C>TSubstitution - coding silent
PKD1L2ENSG00000166473ENST00000525539p.G1108Cc.3322G>TSubstitution - Missense
ENST00000360678p.G423Cc.1267G>TSubstitution - Missense
KLHL36ENSG00000135686ENST00000564996p.E108fs*25c.319delGDeletion - Frameshift
MSLNLENSG00000162006ENST00000293892p.W37Lc.110G>TSubstitution - Missense
SPNS2ENSG00000183018ENST00000329078p.?c.1279-5G>AUnknown
SPAG7ENSG00000091640ENST00000206020p.?c.327+8G>TUnknown
MUC16ENSG00000181143ENST00000397910p.T8351Ic.25052C>TSubstitution - Missense
ENST00000331986p.T3984Ic.11951C>TSubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.T207Nc.620C>ASubstitution - Missense
ENST00000356127p.H8010Nc.24028C>ASubstitution - Missense
ENST00000356127p.W1874Cc.5622G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.W1828Cc.5484G>TSubstitution - Missense
NM_003319p.W1828Cc.5484G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.W1874Cc.5622G>TSubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.I1238Fc.3712A>TSubstitution - Missense
APOBENSG00000084674ENST00000233242p.Y4152Fc.12455A>TSubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.E1610*c.4828G>TSubstitution - Nonsense
ARFGEF1ENSG00000066777ENST00000262215p.R554Mc.1661G>TSubstitution - Missense
TRPC5ENSG00000072315ENST00000262839p.L848Ic.2542C>ASubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.C765Fc.2294G>TSubstitution - Missense
SH2D1AENSG00000183918ENST00000371139p.*129*c.386G>ASubstitution - coding silent
NOX1ENSG00000007952ENST00000372966p.Q230*c.688C>TSubstitution - Nonsense
FANCCENSG00000158169ENST00000289081p.R46Gc.136A>GSubstitution - Missense
GPRASP2ENSG00000158301ENST00000543253p.I710Tc.2129T>CSubstitution - Missense
TEKT3ENSG00000125409ENST00000395930p.L220Lc.660G>TSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.?c.12843+8C>GUnknown
DNAH9ENSG00000007174ENST00000262442p.S1833Sc.5499C>ASubstitution - coding silent
MPRIPENSG00000133030ENST00000341712p.R112Pc.335G>CSubstitution - Missense
ZNF624ENSG00000197566ENST00000311331p.?c.88-6C>TUnknown
FLCNENSG00000154803ENST00000389169p.G34Vc.101G>TSubstitution - Missense
FLCNENSG00000154803ENST00000285071p.G34Vc.101G>TSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.D884Yc.2650G>TSubstitution - Missense
CYTH1ENSG00000108669ENST00000361101p.?c.892-2A>TUnknown
KIR3DL3ENSG00000242019ENST00000291860p.M116Ic.348G>CSubstitution - Missense
CEP250ENSG00000126001ENST00000397527p.I1667Nc.5000T>ASubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.S372Sc.1116C>TSubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000202578p.S372Sc.1116C>TSubstitution - coding silent
TTI1ENSG00000101407ENST00000373448p.L100Fc.298C>TSubstitution - Missense
KCNB1ENSG00000158445ENST00000371741p.F299Lc.897C>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000371754p.?c.2959+10T>CUnknown
CYP24A1ENSG00000019186ENST00000216862p.R157Wc.469C>TSubstitution - Missense
BCAS1ENSG00000064787ENST00000395961p.L50Fc.150G>TSubstitution - Missense
GNASENSG00000087460ENST00000371100p.E303Kc.907G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000378539p.L383Lc.1149G>TSubstitution - coding silent
SPATA31A6ENSG00000185775ENST00000332857p.E313Qc.937G>CSubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.G718Sc.2152G>ASubstitution - Missense
FHITENSG00000189283ENST00000341848p.H94Hc.282C>TSubstitution - coding silent
ACOX2ENSG00000168306ENST00000302819p.Q350Kc.1048C>ASubstitution - Missense
ARHGEF3ENSG00000163947ENST00000296315p.G456Vc.1367G>TSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.P428Lc.1283C>TSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.P428Lc.1283C>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.S730Cc.2188A>TSubstitution - Missense
STC1ENSG00000159167ENST00000290271p.H19Nc.55C>ASubstitution - Missense
DECR1ENSG00000104325ENST00000220764p.?c.949-3T>AUnknown
MFHAS1ENSG00000147324ENST00000276282p.V980Mc.2938G>ASubstitution - Missense
CA1ENSG00000133742ENST00000523953p.I217Mc.651C>GSubstitution - Missense
ESRP1ENSG00000104413ENST00000358397p.E459Ec.1377G>ASubstitution - coding silent
SLC26A7ENSG00000147606ENST00000309536p.T444Ic.1331C>TSubstitution - Missense
SLC26A7ENSG00000147606ENST00000276609p.T444Ic.1331C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.S1310Fc.3929C>TSubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.K66Kc.198G>ASubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.K489Nc.1467G>CSubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.R1233Hc.3698G>ASubstitution - Missense
SEC23AENSG00000100934ENST00000307712p.G283Vc.848G>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.S674fs*123c.2014delCDeletion - Frameshift
AK7ENSG00000140057ENST00000267584p.H142Yc.424C>TSubstitution - Missense
FRMD6ENSG00000139926ENST00000344768p.L155Lc.465G>TSubstitution - coding silent
NINENSG00000100503ENST00000382041p.?c.982-1G>CUnknown
NINENSG00000100503ENST00000245441p.?c.982-1G>CUnknown
LRRK1ENSG00000154237ENST00000388948p.M1880Vc.5638A>GSubstitution - Missense
TM7SF3ENSG00000064115ENST00000343028p.S373Sc.1119G>TSubstitution - coding silent
ASUNENSG00000064102ENST00000261191p.K317Nc.951G>TSubstitution - Missense
DDX11ENSG00000013573ENST00000407793p.V582Gc.1745T>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.R1390Lc.4169G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.R1364Lc.4091G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.R1420Lc.4259G>TSubstitution - Missense
ENST00000322367p.R877Lc.2630G>TSubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.V582Gc.1745T>GSubstitution - Missense
ENST00000368766p.G64Rc.190G>ASubstitution - Missense
DCST1ENSG00000163357ENST00000295542p.F292Yc.875T>ASubstitution - Missense
FMODENSG00000122176ENST00000354955p.I120Mc.360C>GSubstitution - Missense
NFASCENSG00000163531ENST00000360049p.G1109fs*>61c.3325delGDeletion - Frameshift
PIK3C2BENSG00000133056ENST00000367187p.V1174Lc.3520G>TSubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.L130Pc.389T>CSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.T2890Nc.8669C>ASubstitution - Missense
TMEM132CENSG00000181234ENST00000315208p.A520Ac.1560C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.S2133Sc.6399C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.S2133Sc.6399C>TSubstitution - coding silent
PRAMEF4ENSG00000243073ENST00000235349p.F80Lc.240C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.P1685Rc.5054C>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.P1641Rc.4922C>GSubstitution - Missense
OR2T34ENSG00000183310ENST00000328782p.S260Sc.780C>GSubstitution - coding silent
AHDC1ENSG00000126705ENST00000247087p.G211Gc.633C>TSubstitution - coding silent
HMGN2ENSG00000198830ENST00000361427p.P32Pc.96T>GSubstitution - coding silent
OMA1ENSG00000162600ENST00000371226p.F17Lc.49T>CSubstitution - Missense
LEPRENSG00000116678ENST00000349533p.G820*c.2458G>TSubstitution - Nonsense
LEPRENSG00000116678ENST00000371060p.G820*c.2458G>TSubstitution - Nonsense
LEPRENSG00000116678ENST00000344610p.S853Sc.2559C>GSubstitution - coding silent
LEPRENSG00000116678ENST00000371060p.S853Sc.2559C>GSubstitution - coding silent
WLSENSG00000116729ENST00000354777p.P261Ac.781C>GSubstitution - Missense
PDE4BENSG00000184588ENST00000329654p.R594Wc.1780C>TSubstitution - Missense
PDE4BENSG00000184588ENST00000371045p.R422Wc.1264C>TSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.G473Gc.1419C>ASubstitution - coding silent
LPHN2ENSG00000117114ENST00000370725p.R764Lc.2291G>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.D265Yc.793G>TSubstitution - Missense
NOC2LENSG00000188976ENST00000327044p.S425Rc.1275C>ASubstitution - Missense
CLCA4ENSG00000016602ENST00000370563p.P750Pc.2250T>ASubstitution - coding silent
SLC38A6ENSG00000139974ENST00000354886p.?c.926-8A>GUnknown
AP5M1ENSG00000053770ENST00000261558p.I213Ic.639C>TSubstitution - coding silent
KCNH5ENSG00000140015ENST00000322893p.?c.304+10T>AUnknown
CEP128ENSG00000100629ENST00000281129p.E947*c.2839G>TSubstitution - Nonsense
NRXN3ENSG00000021645ENST00000335750p.R741Lc.2222G>TSubstitution - Missense
NRXN3ENSG00000021645ENST00000428277p.R109Lc.326G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.E487fs*32c.1458delGDeletion - Frameshift
UNC79ENSG00000133958ENST00000256339p.S1060Sc.3180C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.S1237Sc.3711C>TSubstitution - coding silent
ENSG00000273259ENST00000393078p.P242Pc.726C>ASubstitution - coding silent
DIS3LENSG00000166938ENST00000319194p.I546Vc.1636A>GSubstitution - Missense
MEGF11ENSG00000157890ENST00000409699p.V27Ac.80T>CSubstitution - Missense
TMCO5AENSG00000166069ENST00000319669p.?c.388-1G>TUnknown
PAK6ENSG00000137843ENST00000441369p.Y471Cc.1412A>GSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.P302Ac.904C>GSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.P311Lc.932C>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.P311Lc.932C>TSubstitution - Missense
WWOXENSG00000186153ENST00000566780p.M114Tc.341T>CSubstitution - Missense
WWOXENSG00000186153ENST00000355860p.M114Tc.341T>CSubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.S961Ic.2882G>TSubstitution - Missense
KLENSG00000133116ENST00000380099p.K717Kc.2151G>ASubstitution - coding silent
PDS5BENSG00000083642ENST00000315596p.T6Tc.18T>CSubstitution - coding silent
MATN1ENSG00000162510ENST00000373765p.I68Mc.204C>GSubstitution - Missense
TP73ENSG00000078900ENST00000378295p.G37Ac.110G>CSubstitution - Missense
NM_004667.3p.E3530Dc.10590G>TSubstitution - Missense
OCA2ENSG00000104044ENST00000354638p.D408Yc.1222G>TSubstitution - Missense
OCA2ENSG00000104044ENST00000382996p.D408Yc.1222G>TSubstitution - Missense
NCSTNENSG00000162736ENST00000294785p.T517Tc.1551G>ASubstitution - coding silent
FCGR2BENSG00000072694ENST00000358671p.?c.856-2A>GUnknown
CD244ENSG00000122223ENST00000368032p.G329Gc.987C>TSubstitution - coding silent
LRRC52ENSG00000162763ENST00000294818p.S207Sc.621A>TSubstitution - coding silent
GLB1L3ENSG00000166105ENST00000431683p.?c.877-5T>AUnknown
OPCMLENSG00000183715ENST00000524381p.T47Tc.141C>ASubstitution - coding silent
PTPN5ENSG00000110786ENST00000358540p.N115Kc.345C>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.Y1508Cc.4523A>GSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.Y1290Cc.3869A>GSubstitution - Missense
NM_002837.2p.Y1290Cc.3869A>GSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.T1920Ac.5758A>GSubstitution - Missense
APOA4ENSG00000110244ENST00000357780p.E301*c.901G>TSubstitution - Nonsense
TRPC6ENSG00000137672ENST00000344327p.K781Rc.2342A>GSubstitution - Missense
ENST00000298815_v65p.T209Tc.627T>CSubstitution - coding silent
LAYNENSG00000204381ENST00000375614p.L338Pc.1013T>CSubstitution - Missense
ANO5ENSG00000171714ENST00000324559p.Y250Cc.749A>GSubstitution - Missense
GSTM4ENSG00000168765ENST00000369836p.?c.113-5G>TUnknown
NTNG1ENSG00000162631ENST00000370071p.Y286*c.858C>ASubstitution - Nonsense
WNT2BENSG00000134245ENST00000369686p.M1Lc.1A>CSubstitution - Missense
DDX20ENSG00000064703ENST00000369702p.G333Sc.997G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.H180fs*30c.536delCDeletion - Frameshift
BRINP3ENSG00000162670ENST00000367462p.P292Hc.875C>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.14267-4G>TUnknown
HMCN1ENSG00000143341ENST00000271588p.S1920Gc.5758A>GSubstitution - Missense
RGS18ENSG00000150681ENST00000367460p.P77Hc.230C>ASubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.S478Sc.1434C>ASubstitution - coding silent
XYLT1ENSG00000103489ENST00000261381p.R957Rc.2871G>TSubstitution - coding silent
SLC39A12ENSG00000148482ENST00000377369p.M295Ic.885G>TSubstitution - Missense
SLC39A12ENSG00000148482ENST00000377374p.M295Ic.885G>TSubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.P864Tc.2590C>ASubstitution - Missense
ACBD5ENSG00000107897ENST00000375888p.?c.485-3C>TUnknown
SLC39A9ENSG00000029364ENST00000336643p.I23Ic.69C>ASubstitution - coding silent
NM_001271.1p.K342Rc.1025A>GSubstitution - Missense
TPSAB1ENSG00000172236ENST00000338844p.A72Pc.214G>CSubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.P370Hc.1109C>ASubstitution - Missense
ARHGAP22ENSG00000128805ENST00000249601p.R663Rc.1989G>CSubstitution - coding silent
RBP3ENSG00000107618ENST00000224600p.S204Yc.611C>ASubstitution - Missense
OGDHLENSG00000197444ENST00000374103p.Y951Yc.2853C>TSubstitution - coding silent
ANK3ENSG00000151150ENST00000280772p.V1047Vc.3141A>TSubstitution - coding silent
ENST00000395293p.V682Vc.2046A>TSubstitution - coding silent
NM_139155.1p.I652Ic.1956C>TSubstitution - coding silent
RTN3ENSG00000133318ENST00000339997p.I161Mc.483A>GSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.G3039Gc.9117G>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.G2537Gc.7611G>TSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.M1955_D1958delMLFDc.5862_5873del12Deletion - In frame
SZT2ENSG00000198198ENST00000372442p.M1955_D1958delMLFDc.5862_5873del12Deletion - In frame
RPS8ENSG00000142937ENST00000396651p.K140Ec.418A>GSubstitution - Missense
XM_052561.7p.S1106Yc.3317C>ASubstitution - Missense
C1orf167ENSG00000215910ENST00000433342p.Q635Kc.1903C>ASubstitution - Missense
HMGCS2ENSG00000134240ENST00000369406p.V199Fc.595G>TSubstitution - Missense
PHGDHENSG00000092621ENST00000369409p.?c.1448-1G>TUnknown
RPRD2ENSG00000163125ENST00000369068p.P418Pc.1254A>GSubstitution - coding silent
DUSP27ENSG00000198842ENST00000361200p.R838Lc.2513G>TSubstitution - Missense
TCHHL1ENSG00000182898ENST00000368806p.G351Cc.1051G>TSubstitution - Missense
SPATA21ENSG00000187144ENST00000375577p.G154Gc.462G>TSubstitution - coding silent
TGM5ENSG00000104055ENST00000220420p.I313Tc.938T>CSubstitution - Missense
KIRREL3ENSG00000149571ENST00000525144p.I114Ic.342C>ASubstitution - coding silent
ENST00000278934p.I73Ic.219C>ASubstitution - coding silent
KIRREL3ENSG00000149571ENST00000525144p.R773Rc.2317C>ASubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000310343p.A2064Ac.6192G>CSubstitution - coding silent
EXT2ENSG00000151348ENST00000358681p.P513Lc.1538C>TSubstitution - Missense
OR52B4ENSG00000221996ENST00000408920p.A40Sc.118G>TSubstitution - Missense
AMBRA1ENSG00000110497ENST00000314845p.T292Tc.876G>TSubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.?c.317-6C>TUnknown
AGBL2ENSG00000165923ENST00000298861p.T12Sc.34A>TSubstitution - Missense
LRRC71ENSG00000160838ENST00000337428p.?c.823-3T>AUnknown
ARHGEF11ENSG00000132694ENST00000368194p.T630Tc.1890C>TSubstitution - coding silent
BCANENSG00000132692ENST00000361588p.R534Sc.1602G>TSubstitution - Missense
OR10Z1ENSG00000198967ENST00000361284p.L23Wc.68T>GSubstitution - Missense
CD1EENSG00000158488ENST00000368167p.L7Ic.19C>ASubstitution - Missense
MNDAENSG00000163563ENST00000368141p.G58Sc.172G>ASubstitution - Missense
VWFENSG00000110799ENST00000261405p.?c.7986+1G>CUnknown
NM_014903.3p.S1893Rc.5679T>ASubstitution - Missense
NM_014903.3p.R636Sc.1908G>TSubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.W1634Cc.4902G>TSubstitution - Missense
ENST00000307147p.?c.731-4G>TUnknown
MYF5ENSG00000111049ENST00000228644p.G221Ec.662G>ASubstitution - Missense
KITLGENSG00000049130ENST00000228280p.W7Lc.20G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A6309Gc.18926C>GSubstitution - Missense
NUP133ENSG00000069248ENST00000261396p.?c.3099+3A>GUnknown
SIPA1L2ENSG00000116991ENST00000366630p.T1263delTc.3787_3789delACCDeletion - In frame
ARID4BENSG00000054267ENST00000264183p.I149Ic.447A>TSubstitution - coding silent
RECQLENSG00000004700ENST00000444129p.V218Vc.654G>ASubstitution - coding silent
SLCO1B7ENSG00000205754ENST00000421593p.I8Ic.24A>TSubstitution - coding silent
ACSBG1ENSG00000103740ENST00000258873p.A195Ac.585C>ASubstitution - coding silent
KRT75ENSG00000170454ENST00000252245p.R312Cc.934C>TSubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.A470Ac.1410A>GSubstitution - coding silent
ADAMTSL3ENSG00000156218ENST00000286744p.T1294Tc.3882C>ASubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.K335*c.1003A>TSubstitution - Nonsense
OR4M1ENSG00000176299ENST00000315957p.L309Fc.927G>TSubstitution - Missense
TSSK4ENSG00000139908ENST00000287913p.T45Sc.133A>TSubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.?c.4354-7C>TUnknown
NYNRINENSG00000205978ENST00000382554p.G511Vc.1532G>TSubstitution - Missense
OR4D6ENSG00000166884ENST00000300127p.L208Lc.624G>TSubstitution - coding silent
OR4D11ENSG00000176200ENST00000313253p.L305Lc.915C>ASubstitution - coding silent
OR52E6ENSG00000205409ENST00000329322p.G97Vc.290G>TSubstitution - Missense
DDB1ENSG00000167986ENST00000301764p.R889Qc.2666G>ASubstitution - Missense
PPP6R3ENSG00000110075ENST00000265636p.P438Rc.1313C>GSubstitution - Missense
PPP6R3ENSG00000110075ENST00000529710p.P438Rc.1313C>GSubstitution - Missense
SHANK2ENSG00000162105ENST00000294018p.A334Tc.1000G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.D1023Dc.3069C>TSubstitution - coding silent
CLEC2DENSG00000069493ENST00000261340p.L155Fc.465A>TSubstitution - Missense
ENST00000342887p.C443Cc.1329T>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.H3082Pc.9245A>CSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.R1760Rc.5280G>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.L1894Lc.5682C>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.Q669Kc.2005C>ASubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.G935Vc.2804G>TSubstitution - Missense
LZTS2ENSG00000107816ENST00000370220p.G49Cc.145G>TSubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.?c.3051+1G>TUnknown
DNMBPENSG00000107554ENST00000342239p.?c.3123+1G>TUnknown
HPSE2ENSG00000172987ENST00000370552p.R230Hc.689G>ASubstitution - Missense
PARP11ENSG00000111224ENST00000228820p.T45Tc.135C>GSubstitution - coding silent
EID3ENSG00000255150ENST00000527879p.V221Ic.661G>ASubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.Q1648Pc.4943A>CSubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.P2119Tc.6355C>ASubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.V483Vc.1449A>GSubstitution - coding silent
TMEM117ENSG00000139173ENST00000266534p.W412Lc.1235G>TSubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.F162Lc.486C>GSubstitution - Missense
ENDOUENSG00000111405ENST00000229003p.T345fs*21c.1032delGDeletion - Frameshift
TP53ENSG00000141510ENST00000269305p.S215Ic.644G>TSubstitution - Missense
CDKN2AENSG00000147889ENST00000304494p.?c.457+1G>TUnknown
TP53ENSG00000141510ENST00000413465p.R158Lc.473G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R158Lc.473G>TSubstitution - Missense
PRDM16ENSG00000142611ENST00000270722p.D985Yc.2953G>TSubstitution - Missense
NAB2ENSG00000166886ENST00000300131p.P121Pc.363C>TSubstitution - coding silent
ENST00000298047_v61p.F1362Fc.4086C>TSubstitution - coding silent
PACRGENSG00000112530ENST00000337019p.K141Nc.423G>TSubstitution - Missense
PTNENSG00000105894ENST00000348225p.Q2Lc.5A>TSubstitution - Missense
CACUL1ENSG00000151893ENST00000369151p.A316Ac.948G>TSubstitution - coding silent
ENST00000414315p.S83Ic.248G>TSubstitution - Missense
ENST00000545858p.S122Ic.365G>TSubstitution - Missense
OR2L13ENSG00000196071ENST00000358120p.L207Fc.619C>TSubstitution - Missense
TTC33ENSG00000113638ENST00000337702p.T18Sc.52A>TSubstitution - Missense
ENST00000316490_v65p.W3838Lc.11513G>TSubstitution - Missense
HOXA3ENSG00000105997ENST00000396352p.P157Pc.471C>ASubstitution - coding silent
POM121L12ENSG00000221900ENST00000408890p.W68Rc.202T>ASubstitution - Missense
DSPENSG00000096696ENST00000379802p.R1308Wc.3922C>TSubstitution - Missense
FHL5ENSG00000112214ENST00000326771p.E185*c.553G>TSubstitution - Nonsense
PELI2ENSG00000139946ENST00000267460p.L45Lc.135C>ASubstitution - coding silent
BTBD11ENSG00000151136ENST00000280758p.A561Vc.1682C>TSubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.T524Tc.1572C>ASubstitution - coding silent
FFAR4ENSG00000186188ENST00000371483p.R280Cc.838C>TSubstitution - Missense
KCNN2ENSG00000080709ENST00000264773p.P261Qc.782C>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.G731Sc.2191G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.G863Sc.2587G>ASubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.G217Sc.649G>ASubstitution - Missense
ACTR3BENSG00000133627ENST00000256001p.V377Lc.1129G>TSubstitution - Missense
SOX6ENSG00000110693ENST00000527619p.A479Vc.1436C>TSubstitution - Missense
SRGAP2ENSG00000163486ENST00000295713p.G930Vc.2789G>TSubstitution - Missense
SRGAP2ENSG00000163486ENST00000414007p.D877Yc.2629G>TSubstitution - Missense
ENST00000375089p.R880Sc.2638C>ASubstitution - Missense
DDOSTENSG00000244038ENST00000375048p.A430Tc.1288G>ASubstitution - Missense
CD34ENSG00000174059ENST00000310833p.G225Vc.674G>TSubstitution - Missense
CD34ENSG00000174059ENST00000367036p.G67Vc.200G>TSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.Y1800Sc.5399A>CSubstitution - Missense
EIF2DENSG00000143486ENST00000271764p.V506Mc.1516G>ASubstitution - Missense
SERTAD4ENSG00000082497ENST00000367012p.G35Rc.103G>ASubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.L427Mc.1279C>ASubstitution - Missense
OR6C75ENSG00000187857ENST00000343399p.M57Ic.171G>TSubstitution - Missense
LACRTENSG00000135413ENST00000257867p.P54Tc.160C>ASubstitution - Missense
ENST00000338294p.Q98Lc.293A>TSubstitution - Missense
KIAA0226LENSG00000102445ENST00000322896p.Q139Qc.417A>GSubstitution - coding silent
SPERTENSG00000174015ENST00000310521p.M84Ic.252G>TSubstitution - Missense
VWA8ENSG00000102763ENST00000379310p.S637Sc.1911A>GSubstitution - coding silent
PCDH8ENSG00000136099ENST00000377942p.R1000Sc.3000G>TSubstitution - Missense
NEK5ENSG00000197168ENST00000355568p.N182Nc.546C>TSubstitution - coding silent
PCDH20ENSG00000197991ENST00000409186p.R606Ic.1817G>TSubstitution - Missense
ENST00000358674p.R579Ic.1736G>TSubstitution - Missense
SSH1ENSG00000084112ENST00000326495p.E98Dc.294G>CSubstitution - Missense
SLC30A7ENSG00000162695ENST00000357650p.S281Ic.842G>TSubstitution - Missense
SASS6ENSG00000156876ENST00000287482p.I275fs*4c.825_826delTADeletion - Frameshift
ZNF485ENSG00000198298ENST00000374437p.A323Vc.968C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374325p.?c.1100-7T>AUnknown
SYT15ENSG00000204176ENST00000374328p.?c.312-7T>AUnknown
ZNF485ENSG00000198298ENST00000361807p.A362Vc.1085C>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374673p.P5Lc.13C>TSubstitution - Missense
LRIT2ENSG00000204033ENST00000372113p.K135Nc.405A>TSubstitution - Missense
PDE6CENSG00000095464ENST00000371447p.?c.1935+5G>AUnknown
VWA5AENSG00000110002ENST00000392748p.L708Fc.2124G>TSubstitution - Missense


COSMIC

4 mutations reported
3 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
SMARCA4ENSG00000127616ENST00000429416p.L1161fs*3c.3476delGDeletion - Frameshift18386774
CDKN2AENSG00000147889ENST00000304494p.?c.457+1G>TUnknown8521414
CDKN2AENSG00000147889ENST00000304494p.?c.457+1G>TUnknown7478613
CDKN2AENSG00000147889ENST00000304494p.?c.457+1G>TUnknown7700630