Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

NCI-H1155 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

4407 mutations reported
1747 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
TTNENSG00000155657ENST00000360870p.A3042Vc.9125C>TSubstitution - Missense
ZNF473ENSG00000142528ENST00000391821p.A483Tc.1447G>ASubstitution - Missense
ENST00000359032_v68p.R618Hc.1853G>ASubstitution - Missense
SRP68ENSG00000167881ENST00000307877p.K416Kc.1248G>ASubstitution - coding silent
TBC1D8BENSG00000133138ENST00000357242p.L1086Lc.3256C>TSubstitution - coding silent
TAF1LENSG00000122728ENST00000242310p.Q219Hc.657G>TSubstitution - Missense
EIF6ENSG00000242372ENST00000374436p.?c.194-3C>TUnknown
ENST00000411702p.G2558Gc.7674C>TSubstitution - coding silent
TRPM2ENSG00000142185ENST00000397928p.?c.4386+1G>AUnknown
ASAH1ENSG00000104763ENST00000262097p.N365Nc.1095C>TSubstitution - coding silent
NM_014629.1p.?c.1941+6G>TUnknown
SNED1ENSG00000162804ENST00000310397p.R1149Rc.3447C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.F23279Fc.69837C>TSubstitution - coding silent
ZNF778ENSG00000170100ENST00000306502p.T65Tc.195G>TSubstitution - coding silent
TACR3ENSG00000169836ENST00000304883p.V412Mc.1234G>ASubstitution - Missense
TPTEENSG00000166157ENST00000361285p.R62Qc.185G>ASubstitution - Missense
PRR22ENSG00000212123ENST00000390672p.A14Dc.41C>ASubstitution - Missense
GIGYF2ENSG00000204120ENST00000373563p.A572Vc.1715C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G903Sc.2707G>ASubstitution - Missense
PLIN5ENSG00000214456ENST00000381848p.?c.520+1G>AUnknown
APOBEC2ENSG00000124701ENST00000244669p.F155Sc.464T>CSubstitution - Missense
BAZ1BENSG00000009954ENST00000339594p.A1174Ac.3522C>TSubstitution - coding silent
ITGB5ENSG00000082781ENST00000296181p.C571Yc.1712G>ASubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.C1121Yc.3362G>ASubstitution - Missense
TOMM22ENSG00000100216ENST00000216034p.L114Lc.342G>ASubstitution - coding silent
RASGRF2ENSG00000113319ENST00000265080p.S789Sc.2367C>TSubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.Q405Qc.1215G>ASubstitution - coding silent
OGFRL1ENSG00000119900ENST00000370435p.R316*c.946C>TSubstitution - Nonsense
PKHD1L1ENSG00000205038ENST00000378402p.T3656Ic.10967C>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.E1346*c.4036G>TSubstitution - Nonsense
FAT1ENSG00000083857ENST00000441802p.Q1421Qc.4263G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.Q1421Qc.4263G>ASubstitution - coding silent
C9orf9ENSG00000165698ENST00000350499p.A153Tc.457G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.T187Kc.560C>ASubstitution - Missense
ENST00000262969p.E263Kc.787G>ASubstitution - Missense
NEIL3ENSG00000109674ENST00000264596p.P467Pc.1401G>ASubstitution - coding silent
NOTCH4ENSG00000204301ENST00000375023p.A162Tc.484G>ASubstitution - Missense
SLC27A1ENSG00000130304ENST00000252595p.R433Wc.1297C>TSubstitution - Missense
GSNENSG00000148180ENST00000373818p.T745Tc.2235C>TSubstitution - coding silent
FIBCD1ENSG00000130720ENST00000372338p.Q184Qc.552G>ASubstitution - coding silent
PTPRRENSG00000153233ENST00000283228p.L96Lc.288G>ASubstitution - coding silent
ENST00000327733p.G205Gc.615C>TSubstitution - coding silent
OTUB1ENSG00000167770ENST00000543004p.P255Pc.765G>ASubstitution - coding silent
P2RY6ENSG00000171631ENST00000393590p.R221Hc.662G>ASubstitution - Missense
TNNT3ENSG00000130595ENST00000381561p.D60Yc.178G>TSubstitution - Missense
SIDT2ENSG00000149577ENST00000278951p.R235Rc.705C>TSubstitution - coding silent
ABCC1ENSG00000103222ENST00000399408p.T489Tc.1467G>ASubstitution - coding silent
EIF4G3ENSG00000075151ENST00000356916p.Q209fs*43c.625delCDeletion - Frameshift
ZNF628ENSG00000197483ENST00000598519p.Q803*c.2407C>TSubstitution - Nonsense
HOXD3ENSG00000128652ENST00000249440p.C404Cc.1212C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000409592p.A1705Tc.5113G>ASubstitution - Missense
SLC22A7ENSG00000137204ENST00000372574p.L77Fc.229C>TSubstitution - Missense
MYH10ENSG00000133026ENST00000396239p.R1238Wc.3712C>TSubstitution - Missense
MYH10ENSG00000133026ENST00000396239p.S662Sc.1986C>TSubstitution - coding silent
SLC4A5ENSG00000188687ENST00000394019p.H482Yc.1444C>TSubstitution - Missense
P2RX6ENSG00000099957ENST00000413302p.A258Vc.773C>TSubstitution - Missense
PPAPDC1BENSG00000147535ENST00000422581p.G169Wc.505G>TSubstitution - Missense
UTP14AENSG00000156697ENST00000371042p.Q167*c.499C>TSubstitution - Nonsense
POF1BENSG00000124429ENST00000373145p.?c.958-4G>AUnknown
ITGB3ENSG00000259207ENST00000435993p.V644Ic.1930G>ASubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.D701Nc.2101G>ASubstitution - Missense
NOL8ENSG00000198000ENST00000442668p.R533Hc.1598G>ASubstitution - Missense
ZMIZ2ENSG00000122515ENST00000309315p.A808Tc.2422G>ASubstitution - Missense
NM_014614.1p.A990Vc.2969C>TSubstitution - Missense
DYNLT1ENSG00000146425ENST00000367089p.S87Tc.260G>CSubstitution - Missense
HIPK1ENSG00000163349ENST00000369558p.S587Nc.1760G>ASubstitution - Missense
SH3GL1ENSG00000141985ENST00000269886p.P304Sc.910C>TSubstitution - Missense
HEYLENSG00000163909ENST00000372852p.L82Vc.244C>GSubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.R1407Hc.4220G>ASubstitution - Missense
MAD2L1BPENSG00000124688ENST00000372171p.F141Lc.423C>GSubstitution - Missense
NM_006622p.H385Yc.1153C>TSubstitution - Missense
SH2B3ENSG00000111252ENST00000341259p.R443Cc.1327C>TSubstitution - Missense
ERLEC1ENSG00000068912ENST00000185150p.H413Yc.1237C>TSubstitution - Missense
MFSD5ENSG00000182544ENST00000329548p.T114Ic.341C>TSubstitution - Missense
MED25ENSG00000104973ENST00000312865p.R586Hc.1757G>ASubstitution - Missense
ELL3ENSG00000128886ENST00000319359p.L29Fc.85C>TSubstitution - Missense
IRAK1ENSG00000184216ENST00000369980p.P658Lc.1973C>TSubstitution - Missense
CCDC137ENSG00000185298ENST00000329214p.K157Nc.471G>TSubstitution - Missense
FAIMENSG00000158234ENST00000360570p.D141Hc.421G>CSubstitution - Missense
DNAJC14ENSG00000135392ENST00000357606p.D527Nc.1579G>ASubstitution - Missense
FBXO16ENSG00000214050ENST00000380254p.A179Vc.536C>TSubstitution - Missense
GABARAPENSG00000170296ENST00000302386p.V80Ic.238G>ASubstitution - Missense
ZNF700ENSG00000196757ENST00000254321p.R210Qc.629G>ASubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.G340Cc.1018G>TSubstitution - Missense
KDM5CENSG00000126012ENST00000375401p.R313Qc.938G>ASubstitution - Missense
NHSENSG00000188158ENST00000398097p.R70Cc.208C>TSubstitution - Missense
ATP7BENSG00000123191ENST00000242839p.V1109Mc.3325G>ASubstitution - Missense
RNF20ENSG00000155827ENST00000389120p.G29Rc.85G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V301Mc.901G>ASubstitution - Missense
LRP3ENSG00000130881ENST00000253193p.D82Gc.245A>GSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.A419Tc.1255G>ASubstitution - Missense
CARFENSG00000138380ENST00000320443p.R52Hc.155G>ASubstitution - Missense
ITIH4ENSG00000055955ENST00000266041p.R688Hc.2063G>ASubstitution - Missense
ZNF283ENSG00000167637ENST00000324461p.V208Lc.622G>CSubstitution - Missense
CENPBD1ENSG00000177946ENST00000314994p.A36Vc.107C>TSubstitution - Missense
EPN2ENSG00000072134ENST00000314728p.E90Kc.268G>ASubstitution - Missense
ARHGAP32ENSG00000134909ENST00000310343p.K360Kc.1080G>ASubstitution - coding silent
LIPKENSG00000204021ENST00000404190p.V245Vc.735G>CSubstitution - coding silent
NEO1ENSG00000067141ENST00000261908p.S1432Sc.4296C>TSubstitution - coding silent
CELA2BENSG00000215704ENST00000422901p.L53Lc.159G>ASubstitution - coding silent
BBS1ENSG00000174483ENST00000318312p.T223Tc.669C>TSubstitution - coding silent
BEST1ENSG00000167995ENST00000378043p.L288Lc.862C>TSubstitution - coding silent
RIN1ENSG00000174791ENST00000424433p.F136Fc.408C>TSubstitution - coding silent
NRAPENSG00000197893ENST00000359988p.A1121Tc.3361G>ASubstitution - Missense
NUDT5ENSG00000165609ENST00000444732p.L66Lc.196C>TSubstitution - coding silent
AKT3ENSG00000117020ENST00000366539p.?c.627+1G>AUnknown
INAENSG00000148798ENST00000369849p.A270Ac.810C>TSubstitution - coding silent
SLC35E2ENSG00000215790ENST00000246421p.?c.587-5C>TUnknown
NBEAENSG00000172915ENST00000310336p.V1611Ic.4831G>ASubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.Q1864Qc.5592G>ASubstitution - coding silent
PLA2G4DENSG00000159337ENST00000290472p.V71Mc.211G>ASubstitution - Missense
ASAH2ENSG00000188611ENST00000395526p.V25Mc.73G>ASubstitution - Missense
NM_014381.1p.Q173*c.517C>TSubstitution - Nonsense
MTNR1BENSG00000134640ENST00000257068p.S116Ic.347G>TSubstitution - Missense
CLSTN3ENSG00000139182ENST00000266546p.?c.2528-3C>TUnknown
CYB561D1ENSG00000174151ENST00000420578p.R86*c.256C>TSubstitution - Nonsense
S100A14ENSG00000189334ENST00000476873p.S73Rc.219C>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.R4703*c.14107C>TSubstitution - Nonsense
MAST2ENSG00000086015ENST00000361297p.H1580Hc.4740C>TSubstitution - coding silent
AIM1LENSG00000176092ENST00000527815p.F480Fc.1440C>TSubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000260526p.G561*c.1681G>TSubstitution - Nonsense
ZNF644ENSG00000122482ENST00000370440p.P1124Pc.3372T>CSubstitution - coding silent
ISM1ENSG00000101230ENST00000262487p.A279Vc.836C>TSubstitution - Missense
ALDOCENSG00000109107ENST00000395321p.A363Tc.1087G>ASubstitution - Missense
SSH2ENSG00000141298ENST00000269033p.Q264*c.790C>TSubstitution - Nonsense
TUBB6ENSG00000176014ENST00000317702p.T285Tc.855C>TSubstitution - coding silent
PRDM7ENSG00000126856ENST00000449207p.L450Lc.1350G>ASubstitution - coding silent
PRDM7ENSG00000126856ENST00000325921p.C150Yc.449G>ASubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.P1773Pc.5319G>ASubstitution - coding silent
MTTPENSG00000138823ENST00000265517p.Q254Rc.761A>GSubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.L343Lc.1027C>TSubstitution - coding silent
SPIDRENSG00000164808ENST00000297423p.H915Hc.2745C>TSubstitution - coding silent
CYP2U1ENSG00000155016ENST00000332884p.M325Vc.973A>GSubstitution - Missense
PLB1ENSG00000163803ENST00000422425p.?c.1783-3C>TUnknown
VITENSG00000205221ENST00000457137p.R167Hc.500G>ASubstitution - Missense
XIRP1ENSG00000168334ENST00000340369p.G1266Vc.3797G>TSubstitution - Missense
OTOP2ENSG00000183034ENST00000331427p.S330Rc.990C>GSubstitution - Missense
ARHGAP24ENSG00000138639ENST00000395184p.L232Lc.696G>ASubstitution - coding silent
KRBOX4ENSG00000147121ENST00000298190p.?c.142+10C>TUnknown
FLT4ENSG00000037280ENST00000261937p.L147Lc.441G>ASubstitution - coding silent
ENSG00000187185ENST00000335616p.C43Cc.129C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.L5655Lc.16965G>ASubstitution - coding silent
CNTNAP5ENSG00000155052ENST00000431078p.N584Dc.1750A>GSubstitution - Missense
ENST00000378682p.Q2132Qc.6396G>ASubstitution - coding silent
SLC12A8ENSG00000221955ENST00000393469p.A281Vc.842C>TSubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.S1112Nc.3335G>ASubstitution - Missense
KCNJ4ENSG00000168135ENST00000303592p.V360Mc.1078G>ASubstitution - Missense
TMEM259ENSG00000182087ENST00000356663p.A300Ac.900G>ASubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.R394Rc.1182C>TSubstitution - coding silent
C9orf170ENSG00000204446ENST00000375941p.R41Wc.121C>TSubstitution - Missense
GLT6D1ENSG00000204007ENST00000371763p.E89Ec.267G>ASubstitution - coding silent
BZRAP1ENSG00000005379ENST00000343736p.L370Lc.1110G>ASubstitution - coding silent
ASIC3ENSG00000213199ENST00000349064p.T178Tc.534G>ASubstitution - coding silent
GABRA1ENSG00000022355ENST00000393943p.W344Cc.1032G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.?c.1913-1G>AUnknown
TMEM38AENSG00000072954ENST00000187762p.V207Vc.621G>ASubstitution - coding silent
HK3ENSG00000160883ENST00000292432p.R775Pc.2324G>CSubstitution - Missense
C6orf1ENSG00000186577ENST00000394990p.L88Lc.264G>ASubstitution - coding silent
NR5A1ENSG00000136931ENST00000373588p.A400Tc.1198G>ASubstitution - Missense
POLE3ENSG00000148229ENST00000374169p.G98Gc.294C>TSubstitution - coding silent
VPS8ENSG00000156931ENST00000437079p.R1390Rc.4170C>TSubstitution - coding silent
PGRENSG00000082175ENST00000325455p.G631Gc.1893C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.R273Hc.818G>ASubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.R836Cc.2506C>TSubstitution - Missense
CHD5ENSG00000116254ENST00000378021p.S109Sc.327C>TSubstitution - coding silent
MROH7ENSG00000184313ENST00000339553p.P91Lc.272C>TSubstitution - Missense
PLOD1ENSG00000083444ENST00000376369p.A687Tc.2059G>ASubstitution - Missense
RASSF7ENSG00000099849ENST00000397583p.R105Cc.313C>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000392025p.T75Tc.225G>ASubstitution - coding silent
YIF1BENSG00000167645ENST00000329420p.P140Lc.419C>TSubstitution - Missense
ENST00000326873_v70p.I46Ic.138C>TSubstitution - coding silent
OBSL1ENSG00000124006ENST00000373873p.V743Ac.2228T>CSubstitution - Missense
SERINC4ENSG00000184716ENST00000319327p.I186Ic.558C>TSubstitution - coding silent
EXOC3L4ENSG00000205436ENST00000380069p.R154Cc.460C>TSubstitution - Missense
SUN2ENSG00000100242ENST00000411587p.T193Tc.579C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000537830p.T141Ic.422C>TSubstitution - Missense
HLA-DPB1ENSG00000223865ENST00000428835p.S130Tc.389G>CSubstitution - Missense
COL13A1ENSG00000197467ENST00000398972p.V246Lc.736G>CSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000409700p.A246Vc.737C>TSubstitution - Missense
GALNT10ENSG00000164574ENST00000377657p.V93Vc.279C>TSubstitution - coding silent
UBN2ENSG00000157741ENST00000473989p.R981Hc.2942G>ASubstitution - Missense
SYBUENSG00000147642ENST00000422135p.E457Kc.1369G>ASubstitution - Missense
WDHD1ENSG00000198554ENST00000360586p.A570Sc.1708G>TSubstitution - Missense
ADCY3ENSG00000138031ENST00000260600p.A758Vc.2273C>TSubstitution - Missense
ISG20ENSG00000172183ENST00000306072p.M64Ic.192G>ASubstitution - Missense
MAP3K10ENSG00000130758ENST00000253055p.C171Yc.512G>ASubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.D843Ec.2529C>GSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.R637Qc.1910G>ASubstitution - Missense
ENST00000309024p.R637Qc.1910G>ASubstitution - Missense
UNC119ENSG00000109103ENST00000301032p.C190Yc.569G>ASubstitution - Missense
RNF20ENSG00000155827ENST00000389120p.A163Tc.487G>ASubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.D544Nc.1630G>ASubstitution - Missense
HSF1ENSG00000185122ENST00000528838p.V70Mc.208G>ASubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.C253Yc.758G>ASubstitution - Missense
SEZ6L2ENSG00000174938ENST00000308713p.S749Nc.2246G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.A952Tc.2854G>ASubstitution - Missense
RIN2ENSG00000132669ENST00000255006p.M644Ic.1932G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000393245p.R957*c.2869C>TSubstitution - Nonsense
SDR16C5ENSG00000170786ENST00000303749p.Q260Rc.779A>GSubstitution - Missense
NIPA2ENSG00000140157ENST00000359727p.V292Mc.874G>ASubstitution - Missense
ZNF212ENSG00000170260ENST00000335870p.L486Qc.1457T>ASubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.T293Ic.878C>TSubstitution - Missense
TTYH3ENSG00000136295ENST00000258796p.A469Tc.1405G>ASubstitution - Missense
NOP58ENSG00000055044ENST00000264279p.L275Pc.824T>CSubstitution - Missense
PACSIN3ENSG00000165912ENST00000298838p.R23Kc.68G>ASubstitution - Missense
CENPTENSG00000102901ENST00000219172p.A293Tc.877G>ASubstitution - Missense
ARIH2ENSG00000177479ENST00000356401p.C164Gc.490T>GSubstitution - Missense
PTGR1ENSG00000106853ENST00000309195p.A283Tc.847G>ASubstitution - Missense
LRBAENSG00000198589ENST00000357115p.R722Hc.2165G>ASubstitution - Missense
TPP2ENSG00000134900ENST00000376065p.Q761Rc.2282A>GSubstitution - Missense
ORC4ENSG00000115947ENST00000264169p.P33Lc.98C>TSubstitution - Missense
MTMR1ENSG00000063601ENST00000370390p.A626Vc.1877C>TSubstitution - Missense
TPD52L1ENSG00000111907ENST00000534000p.T11Ic.32C>TSubstitution - Missense
WSCD2ENSG00000075035ENST00000332082p.?c.1145-10C>TUnknown
SART3ENSG00000075856ENST00000228284p.A226Tc.676G>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000351293p.T37Tc.111G>ASubstitution - coding silent
RIMKLBENSG00000166532ENST00000357529p.I298Ic.894C>TSubstitution - coding silent
PLEKHG6ENSG00000008323ENST00000011684p.?c.868-3C>TUnknown
ARHGEF17ENSG00000110237ENST00000263674p.T473Tc.1419G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.V38Mc.112G>ASubstitution - Missense
PPP6R3ENSG00000110075ENST00000529710p.R42Hc.125G>ASubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.R723Hc.2168G>ASubstitution - Missense
FUOMENSG00000148803ENST00000368552p.T96Mc.287C>TSubstitution - Missense
COPAENSG00000122218ENST00000241704p.Y370Yc.1110C>TSubstitution - coding silent
ENST00000321016_v61p.L468Lc.1404G>ASubstitution - coding silent
XM_375718.1p.Q232*c.694C>TSubstitution - Nonsense
NADKENSG00000008130ENST00000342348p.D152Dc.456C>TSubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.L1607Lc.4821G>ASubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.V644Ic.1930G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.V674Mc.2020G>ASubstitution - Missense
TBX5ENSG00000089225ENST00000310346p.K159Kc.477G>ASubstitution - coding silent
ENST00000270720p.Q360*c.1078C>TSubstitution - Nonsense
KIF21BENSG00000116852ENST00000332129p.Q558Qc.1674G>ASubstitution - coding silent
OR1C1ENSG00000221888ENST00000408896p.K234Kc.702G>ASubstitution - coding silent
PIWIL1ENSG00000125207ENST00000245255p.Q20*c.58C>TSubstitution - Nonsense
MPHOSPH9ENSG00000051825ENST00000541076p.?c.2311+1G>AUnknown
IGDCC3ENSG00000174498ENST00000327987p.L527Lc.1581G>ASubstitution - coding silent
IQSEC3ENSG00000120645ENST00000538872p.A361Ac.1083C>TSubstitution - coding silent
MCF2LENSG00000126217ENST00000375604p.L825Lc.2473C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.H814Rc.2441A>GSubstitution - Missense
ENST00000339762_v65p.C464Cc.1392C>TSubstitution - coding silent
FGRENSG00000000938ENST00000374005p.H105Hc.315C>TSubstitution - coding silent
ADAM23ENSG00000114948ENST00000264377p.H585Hc.1755T>CSubstitution - coding silent
SDCBP2ENSG00000125775ENST00000381812p.R147Rc.441C>TSubstitution - coding silent
SDCBP2ENSG00000125775ENST00000360779p.R147Rc.441C>TSubstitution - coding silent
GGHENSG00000137563ENST00000260118p.C43Cc.129C>TSubstitution - coding silent
STAG2ENSG00000101972ENST00000218089p.Q801*c.2401C>TSubstitution - Nonsense
PRPS1ENSG00000147224ENST00000372419p.C77Cc.231C>TSubstitution - coding silent
R3HCC1ENSG00000104679ENST00000265806p.R114Hc.341G>ASubstitution - Missense
VCPENSG00000165280ENST00000358901p.Y244Yc.732C>TSubstitution - coding silent
HOOK2ENSG00000095066ENST00000397668p.A455Vc.1364C>TSubstitution - Missense
ZNF512ENSG00000243943ENST00000355467p.?c.373+7C>TUnknown
BIRC6ENSG00000115760ENST00000421745p.R4378*c.13132C>TSubstitution - Nonsense
UVSSAENSG00000163945ENST00000389851p.G505Gc.1515C>TSubstitution - coding silent
SNTG2ENSG00000172554ENST00000308624p.C366Cc.1098C>TSubstitution - coding silent
TRPM8ENSG00000144481ENST00000324695p.L971Lc.2911C>TSubstitution - coding silent
ENST00000419043p.S281Nc.842G>ASubstitution - Missense
PAGR1ENSG00000185928ENST00000320330p.D202Dc.606C>TSubstitution - coding silent
DMWDENSG00000185800ENST00000270223p.R309Rc.927C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000336783p.?c.2173-1G>AUnknown
ZNF785ENSG00000197162ENST00000395216p.T223Tc.669C>TSubstitution - coding silent
EPHB4ENSG00000196411ENST00000358173p.Y924Yc.2772C>TSubstitution - coding silent
PI16ENSG00000164530ENST00000373674p.C5Cc.15C>TSubstitution - coding silent
FAM120CENSG00000184083ENST00000375180p.R556Hc.1667G>ASubstitution - Missense
JOSD1ENSG00000100221ENST00000216039p.V69Vc.207G>ASubstitution - coding silent
TTC37ENSG00000198677ENST00000358746p.?c.3803-1G>AUnknown
SIM1ENSG00000112246ENST00000262901p.G736Gc.2208C>ASubstitution - coding silent
NCAPH2ENSG00000025770ENST00000299821p.Q408*c.1222C>TSubstitution - Nonsense
MTO1ENSG00000135297ENST00000370300p.S266Sc.798C>TSubstitution - coding silent
KIAA1958ENSG00000165185ENST00000374244p.D591Ec.1773C>GSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.T686Ic.2057C>TSubstitution - Missense
GFAPENSG00000131095ENST00000435360p.R270Rc.810C>TSubstitution - coding silent
EPXENSG00000121053ENST00000225371p.L361Fc.1081C>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.A213Vc.638C>TSubstitution - Missense
ZFP14ENSG00000142065ENST00000270001p.Q471Qc.1413G>ASubstitution - coding silent
COBLENSG00000106078ENST00000395540p.T241Ic.722C>TSubstitution - Missense
SLC4A2ENSG00000164889ENST00000485713p.R377Rc.1131C>TSubstitution - coding silent
GABRA3ENSG00000011677ENST00000370314p.D109Nc.325G>ASubstitution - Missense
C4orf50ENSG00000181215ENST00000531445p.A597Vc.1790C>TSubstitution - Missense
VPS8ENSG00000156931ENST00000437079p.R187*c.559C>TSubstitution - Nonsense
WNT2BENSG00000134245ENST00000369686p.A302Tc.904G>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.G1963Vc.5888G>TSubstitution - Missense
OR5M3ENSG00000174937ENST00000312240p.C239Yc.716G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S2840Yc.8519C>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.Q245Qc.735G>ASubstitution - coding silent
EPHA2ENSG00000142627ENST00000358432p.P786Pc.2358G>ASubstitution - coding silent
CECR5ENSG00000069998ENST00000155674p.L210Lc.630G>ASubstitution - coding silent
RBFOX1ENSG00000078328ENST00000547372p.K243Nc.729G>TSubstitution - Missense
NFATC2ENSG00000101096ENST00000371564p.A59Tc.175G>ASubstitution - Missense
SLC35C2ENSG00000080189ENST00000543605p.A304Tc.910G>ASubstitution - Missense
FLNBENSG00000136068ENST00000490882p.D978Dc.2934C>TSubstitution - coding silent
ENST00000356441p.G21Dc.62G>ASubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.R1598Wc.4792C>TSubstitution - Missense
STEAP1BENSG00000105889ENST00000406890p.S3Sc.9C>TSubstitution - coding silent
FKBP9ENSG00000122642ENST00000538336p.G177Dc.530G>ASubstitution - Missense
WDR45ENSG00000196998ENST00000322995p.?c.236-9G>AUnknown
CNTNAP3ENSG00000106714ENST00000358144p.R326Cc.976C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.R5116Hc.15347G>ASubstitution - Missense
HIST1H2BHENSG00000197459ENST00000356350p.S39Sc.117C>TSubstitution - coding silent
PRR12ENSG00000126464ENST00000418929p.V188Mc.562G>ASubstitution - Missense
NID2ENSG00000087303ENST00000216286p.R811Hc.2432G>ASubstitution - Missense
TNP1ENSG00000118245ENST00000236979p.R43Wc.127C>TSubstitution - Missense
STAT1ENSG00000115415ENST00000361099p.A469Tc.1405G>ASubstitution - Missense
STRIP2ENSG00000128578ENST00000249344p.R214Hc.641G>ASubstitution - Missense
TRABDENSG00000170638ENST00000395827p.A69Vc.206C>TSubstitution - Missense
FBXO2ENSG00000116661ENST00000354287p.D144Yc.430G>TSubstitution - Missense
ZMYND19ENSG00000165724ENST00000298585p.S117Nc.350G>ASubstitution - Missense
SLC6A16ENSG00000063127ENST00000335875p.G693Rc.2077G>ASubstitution - Missense
ITM2CENSG00000135916ENST00000326427p.T205Mc.614C>TSubstitution - Missense
CDK9ENSG00000136807ENST00000373264p.A340Tc.1018G>ASubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.H1055Nc.3163C>ASubstitution - Missense
CLASRPENSG00000104859ENST00000221455p.R620Hc.1859G>ASubstitution - Missense
TUBGCP2ENSG00000130640ENST00000252936p.A483Vc.1448C>TSubstitution - Missense
PSAPENSG00000197746ENST00000394936p.P294Hc.881C>ASubstitution - Missense
FHDC1ENSG00000137460ENST00000260008p.R540Hc.1619G>ASubstitution - Missense
NCOA1ENSG00000084676ENST00000406961p.T257Mc.770C>TSubstitution - Missense
STRBPENSG00000165209ENST00000447404p.A459Vc.1376C>TSubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.R447Hc.1340G>ASubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.M989Ic.2967G>ASubstitution - Missense
NM_013364.2p.A278Vc.833C>TSubstitution - Missense
C16orf62ENSG00000103544ENST00000251143p.D927Nc.2779G>ASubstitution - Missense
FLOT1ENSG00000137312ENST00000376389p.E312Kc.934G>ASubstitution - Missense
ENST00000428290_v65p.C318Yc.953G>ASubstitution - Missense
GRIN2CENSG00000161509ENST00000293190p.A596Tc.1786G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.A251Vc.752C>TSubstitution - Missense
ACBD4ENSG00000181513ENST00000398322p.R220Wc.658C>TSubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.A1179Tc.3535G>ASubstitution - Missense
MUTYHENSG00000132781ENST00000372098p.S44Nc.131G>ASubstitution - Missense
NM_002847.2p.A201Pc.601G>CSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.V1918Lc.5752G>CSubstitution - Missense
MTIF2ENSG00000085760ENST00000394600p.F659Ic.1975T>ASubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.L3520Lc.10558C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.R3136Wc.9406C>TSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.P583Pc.1749G>ASubstitution - coding silent
CSPG4ENSG00000173546ENST00000308508p.S1920Sc.5760C>TSubstitution - coding silent
LEFTY1ENSG00000243709ENST00000272134p.?c.738-3C>GUnknown
LRP4ENSG00000134569ENST00000378623p.N303Nc.909C>TSubstitution - coding silent
IFIT5ENSG00000152778ENST00000371795p.C73Cc.219C>TSubstitution - coding silent
NUTM2AENSG00000184923ENST00000381707p.R344Qc.1031G>ASubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.Q992*c.2974C>TSubstitution - Nonsense
NM_032496.1p.G282Rc.844G>ASubstitution - Missense
LMNAENSG00000160789ENST00000368300p.R439Rc.1317C>TSubstitution - coding silent
EDRF1ENSG00000107938ENST00000356792p.G108Gc.324C>TSubstitution - coding silent
HTR1DENSG00000179546ENST00000374619p.Y146Yc.438C>TSubstitution - coding silent
TEX30ENSG00000151287ENST00000376032p.Q217Qc.651A>GSubstitution - coding silent
TECTBENSG00000119913ENST00000369422p.T227Mc.680C>TSubstitution - Missense
NHLRC2ENSG00000196865ENST00000369301p.W423*c.1268G>ASubstitution - Nonsense
GLB1L2ENSG00000149328ENST00000339772p.D464Dc.1392C>TSubstitution - coding silent
C1orf204ENSG00000188004ENST00000368102p.S113Nc.338G>ASubstitution - Missense
SPOCD1ENSG00000134668ENST00000360482p.P702Lc.2105C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.M1992Ic.5976G>ASubstitution - Missense
ENST00000530275_v68p.A1189Vc.3566C>TSubstitution - Missense
ENST00000369342p.V96Vc.288C>TSubstitution - coding silent
EIF4G2ENSG00000110321ENST00000339995p.G218Gc.654C>TSubstitution - coding silent
MKL2ENSG00000186260ENST00000341243p.T477Ic.1430C>TSubstitution - Missense
CCDC6ENSG00000108091ENST00000263102p.V239Ac.716T>CSubstitution - Missense
NM_000926.2p.G631Gc.1893C>TSubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.H587Hc.1761C>TSubstitution - coding silent
DAAM1ENSG00000100592ENST00000351081p.S664Sc.1992C>TSubstitution - coding silent
FBN1ENSG00000166147ENST00000316623p.Q2328*c.6982C>TSubstitution - Nonsense
ZYG11BENSG00000162378ENST00000294353p.K392Kc.1176G>ASubstitution - coding silent
INO80ENSG00000128908ENST00000361937p.?c.3498-3C>TUnknown
EML5ENSG00000165521ENST00000554922p.P1499Tc.4495C>ASubstitution - Missense
PAFAH2ENSG00000158006ENST00000374284p.S190Sc.570C>TSubstitution - coding silent
SNTG1ENSG00000147481ENST00000518864p.?c.680+8C>TUnknown
TNRC6CENSG00000078687ENST00000335749p.G19Gc.57C>TSubstitution - coding silent
XAB2ENSG00000076924ENST00000358368p.C587Cc.1761C>TSubstitution - coding silent
XM_373367.2p.A250Tc.748G>ASubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.I263Tc.788T>CSubstitution - Missense
CCDC40ENSG00000141519ENST00000269318p.L555Lc.1665G>ASubstitution - coding silent
KRTAP4-9ENSG00000212722ENST00000391415p.V58Mc.172G>ASubstitution - Missense
FAM192AENSG00000172775ENST00000309137p.?c.226+1G>AUnknown
PLECENSG00000178209ENST00000345136p.E3599Ec.10797G>ASubstitution - coding silent
ACSS1ENSG00000154930ENST00000323482p.L104Mc.310C>ASubstitution - Missense
SMAD4ENSG00000141646ENST00000342988p.R38fs*4c.107_108insAInsertion - Frameshift
TTNENSG00000155657ENST00000359218p.A26558Vc.79673C>TSubstitution - Missense
AP1B1ENSG00000100280ENST00000357586p.Y943Yc.2829C>TSubstitution - coding silent
MYH4ENSG00000264424ENST00000255381p.L947Lc.2841G>ASubstitution - coding silent
ANKRD11ENSG00000167522ENST00000301030p.H1684Hc.5052C>TSubstitution - coding silent
DNAI2ENSG00000171595ENST00000311014p.L537Lc.1611G>TSubstitution - coding silent
C2orf78ENSG00000187833ENST00000409561p.S68Sc.204C>TSubstitution - coding silent
PAX8ENSG00000125618ENST00000429538p.V122Mc.364G>ASubstitution - Missense
STEAP1BENSG00000105889ENST00000404369p.S3Sc.9C>TSubstitution - coding silent
KALRNENSG00000160145ENST00000240874p.E827Gc.2480A>GSubstitution - Missense
ENST00000357909p.?c.663+6C>TUnknown
NOVA2ENSG00000104967ENST00000263257p.A44Tc.130G>ASubstitution - Missense
RSPH10B2ENSG00000169402ENST00000297186p.V83Mc.247G>ASubstitution - Missense
SLC12A8ENSG00000221955ENST00000393469p.A243Vc.728C>TSubstitution - Missense
ABHD5ENSG00000011198ENST00000458276p.S134Sc.402C>ASubstitution - coding silent
UTP15ENSG00000164338ENST00000296792p.?c.368+9C>GUnknown
NM_022783.1p.R223Wc.667C>TSubstitution - Missense
FAM227AENSG00000184949ENST00000355830p.R213Wc.637C>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.A1205Vc.3614C>TSubstitution - Missense
MSI2ENSG00000153944ENST00000322684p.D51Dc.153T>CSubstitution - coding silent
ACLYENSG00000131473ENST00000352035p.I1022Ic.3066C>ASubstitution - coding silent
HELTENSG00000187821ENST00000338875p.H43Hc.129C>TSubstitution - coding silent
MECOMENSG00000085276ENST00000392736p.S823Lc.2468C>TSubstitution - Missense
ANKHENSG00000154122ENST00000284268p.G389Rc.1165G>ASubstitution - Missense
CNTNAP1ENSG00000108797ENST00000264638p.T224Tc.672G>ASubstitution - coding silent
LRP12ENSG00000147650ENST00000276654p.L154Lc.460C>TSubstitution - coding silent
SLC29A4ENSG00000164638ENST00000297195p.?c.301+9C>AUnknown
PLXNB3ENSG00000198753ENST00000538966p.C675Cc.2025C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000359149p.R741Rc.2223C>TSubstitution - coding silent
POM121L2ENSG00000158553ENST00000444565p.G213Gc.639G>ASubstitution - coding silent
SUSD2ENSG00000099994ENST00000358321p.H649Hc.1947C>TSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.G1617Rc.4849G>ASubstitution - Missense
C5orf34ENSG00000172244ENST00000306862p.S351Sc.1053A>GSubstitution - coding silent
GHRENSG00000112964ENST00000230882p.P591Sc.1771C>TSubstitution - Missense
NR5A1ENSG00000136931ENST00000373587p.A184Tc.550G>ASubstitution - Missense
RXFP1ENSG00000171509ENST00000307765p.Q701*c.2101C>TSubstitution - Nonsense
ATP13A4ENSG00000127249ENST00000295548p.?c.61-7G>AUnknown
RIMBP2ENSG00000060709ENST00000536002p.A218Tc.652G>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.N504Nc.1512C>TSubstitution - coding silent
TBATAENSG00000166220ENST00000545575p.V117Ic.349G>ASubstitution - Missense
GIGYF2ENSG00000204120ENST00000452341p.A403Vc.1208C>TSubstitution - Missense
ATXN2LENSG00000168488ENST00000340394p.?c.2433+1G>AUnknown
DISP1ENSG00000154309ENST00000360254p.L127Lc.381T>CSubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000315174p.A59Ac.177G>ASubstitution - coding silent
ENST00000301659_v70p.L274Lc.820C>TSubstitution - coding silent
DNAH6ENSG00000115423ENST00000398278p.N246Nc.738T>CSubstitution - coding silent
FAM120BENSG00000112584ENST00000537664p.S217Sc.651C>TSubstitution - coding silent
STAG2ENSG00000101972ENST00000371160p.Q801*c.2401C>TSubstitution - Nonsense
LIMK1ENSG00000106683ENST00000538333p.R166Cc.496C>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000400046p.L105Lc.315G>ASubstitution - coding silent
NPHS1ENSG00000161270ENST00000378910p.N908Nc.2724C>TSubstitution - coding silent
UBXN6ENSG00000167671ENST00000301281p.D183Nc.547G>ASubstitution - Missense
GPSM2ENSG00000121957ENST00000406462p.L135Fc.403C>TSubstitution - Missense
GMPRENSG00000137198ENST00000259727p.M113Ic.339G>ASubstitution - Missense
OTTHUMT00000056248.1p.S1865Nc.5594G>ASubstitution - Missense
EZH1ENSG00000108799ENST00000428826p.R287Wc.859C>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.A1695Dc.5084C>ASubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.R380Wc.1138C>TSubstitution - Missense
CCDC51ENSG00000164051ENST00000395694p.V186Mc.556G>ASubstitution - Missense
XPNPEP1ENSG00000108039ENST00000369680p.T425Ic.1274C>TSubstitution - Missense
FAM120CENSG00000184083ENST00000375180p.V462Mc.1384G>ASubstitution - Missense
PSMD4ENSG00000159352ENST00000368884p.R17Wc.49C>TSubstitution - Missense
KLF4ENSG00000136826ENST00000374672p.T96Tc.288C>TSubstitution - coding silent
ARFGEF2ENSG00000124198ENST00000371917p.T281Ic.842C>TSubstitution - Missense
MICALL1ENSG00000100139ENST00000215957p.R494Hc.1481G>ASubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.A378Vc.1133C>TSubstitution - Missense
CHRDENSG00000090539ENST00000204604p.A812Vc.2435C>TSubstitution - Missense
SLC5A2ENSG00000140675ENST00000330498p.A498Tc.1492G>ASubstitution - Missense
ALG12ENSG00000182858ENST00000330817p.T113Mc.338C>TSubstitution - Missense
LPPENSG00000145012ENST00000312675p.G106Rc.316G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.A664Vc.1991C>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.R856Wc.2566C>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.P21Lc.62C>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.R86Cc.256C>TSubstitution - Missense
CEP112ENSG00000154240ENST00000392769p.R416Hc.1247G>ASubstitution - Missense
INPP5JENSG00000185133ENST00000331075p.R874Hc.2621G>ASubstitution - Missense
FBXO28ENSG00000143756ENST00000366862p.R365Qc.1094G>ASubstitution - Missense
SNRNP200ENSG00000144028ENST00000323853p.A813Tc.2437G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000322610p.S420Nc.1259G>ASubstitution - Missense
PRMT7ENSG00000132600ENST00000339507p.A688Vc.2063C>TSubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.R756Hc.2267G>ASubstitution - Missense
CCKBRENSG00000110148ENST00000525462p.A62Vc.185C>TSubstitution - Missense
BAZ2AENSG00000076108ENST00000379441p.V534Ic.1600G>ASubstitution - Missense
PDIA6ENSG00000143870ENST00000272227p.A127Vc.380C>TSubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.R298Qc.893G>ASubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.R704Hc.2111G>ASubstitution - Missense
MRE11AENSG00000020922ENST00000323929p.A551Tc.1651G>ASubstitution - Missense
TROAPENSG00000135451ENST00000257909p.V351Ic.1051G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.R1000Kc.2999G>ASubstitution - Missense
PHBENSG00000167085ENST00000300408p.D115Nc.343G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.A952Tc.2854G>ASubstitution - Missense
DHX8ENSG00000067596ENST00000262415p.L1173Fc.3517C>TSubstitution - Missense
DTX1ENSG00000135144ENST00000257600p.Q81Qc.243G>ASubstitution - coding silent
KRT78ENSG00000170423ENST00000304620p.L506Lc.1518G>ASubstitution - coding silent
SKIENSG00000157933ENST00000378536p.R132Cc.394C>TSubstitution - Missense
POLEENSG00000177084ENST00000320574p.?c.3379-3C>TUnknown
PWWP2BENSG00000171813ENST00000305233p.Q79Qc.237G>ASubstitution - coding silent
TMTC4ENSG00000125247ENST00000342624p.Q579*c.1735C>TSubstitution - Nonsense
ANO1ENSG00000131620ENST00000355303p.?c.1781-4C>TUnknown
CDCA4ENSG00000170779ENST00000392590p.A135Vc.404C>TSubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.?c.319-5G>CUnknown
NOTCH2ENSG00000134250ENST00000256646p.H441Hc.1323C>TSubstitution - coding silent
ATMENSG00000149311ENST00000278616p.T2335Ic.7004C>TSubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.A570Tc.1708G>ASubstitution - Missense
DHX9ENSG00000135829ENST00000367549p.?c.2624+8C>TUnknown
LAD1ENSG00000159166ENST00000391967p.R461Wc.1381C>TSubstitution - Missense
TEDDM1ENSG00000203730ENST00000367565p.Q254Qc.762G>ASubstitution - coding silent
SEC16BENSG00000120341ENST00000308284p.Q773Qc.2319G>ASubstitution - coding silent
MIS18BP1ENSG00000129534ENST00000310806p.R124Rc.372T>CSubstitution - coding silent
FAAHENSG00000117480ENST00000243167p.G268Gc.804C>TSubstitution - coding silent
ENST00000322367p.R53Cc.157C>TSubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.L417Lc.1249C>TSubstitution - coding silent
FGRENSG00000000938ENST00000374005p.L508Lc.1524G>ASubstitution - coding silent
PCID2ENSG00000126226ENST00000246505p.H103Yc.307C>TSubstitution - Missense
IQCHENSG00000103599ENST00000335894p.Q3*c.7C>TSubstitution - Nonsense
TUBB4AENSG00000104833ENST00000264071p.R320Rc.960C>TSubstitution - coding silent
ENST00000221482p.A1335Vc.4004C>TSubstitution - Missense
LHBENSG00000104826ENST00000221421p.G16Gc.48C>TSubstitution - coding silent
NUTM2FENSG00000130950ENST00000341207p.W179*c.536G>ASubstitution - Nonsense
DSC1ENSG00000134765ENST00000257197p.V803Ic.2407G>ASubstitution - Missense
ZNF491ENSG00000177599ENST00000323169p.T154Ic.461C>TSubstitution - Missense
ADAM17ENSG00000151694ENST00000310823p.L739Lc.2215C>TSubstitution - coding silent
KRTAP10-3ENSG00000212935ENST00000391620p.C9Yc.26G>ASubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.C1569Yc.4706G>ASubstitution - Missense
EBF4ENSG00000088881ENST00000380648p.Q134*c.400C>TSubstitution - Nonsense
IRAK2ENSG00000134070ENST00000256458p.L343Lc.1027C>TSubstitution - coding silent
ENSG00000115128ENST00000233468p.G51Gc.153G>ASubstitution - coding silent
ZNF677ENSG00000197928ENST00000333952p.S59Pc.175T>CSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.M322Ic.966G>ASubstitution - Missense
TTYH2ENSG00000141540ENST00000269346p.C367Cc.1101C>TSubstitution - coding silent
SLC9A7ENSG00000065923ENST00000328306p.W627*c.1880G>ASubstitution - Nonsense
ZFYVE20ENSG00000131381ENST00000253699p.Q498Qc.1494G>ASubstitution - coding silent
ENST00000316893p.R1598Wc.4792C>TSubstitution - Missense
ENST00000354963p.P30Pc.90G>ASubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.V1044Vc.3132G>ASubstitution - coding silent
SBF1ENSG00000100241ENST00000390679p.L1446Lc.4338G>ASubstitution - coding silent
SSBP4ENSG00000130511ENST00000270061p.S245Nc.734G>ASubstitution - Missense
EYSENSG00000188107ENST00000370621p.C2645Yc.7934G>ASubstitution - Missense
PICK1ENSG00000100151ENST00000404072p.L261Lc.781C>TSubstitution - coding silent
TRIP13ENSG00000071539ENST00000166345p.R354*c.1060C>TSubstitution - Nonsense
MPOENSG00000005381ENST00000225275p.A25Vc.74C>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.R856Wc.2566C>TSubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.V1078Vc.3234C>TSubstitution - coding silent
CACTINENSG00000105298ENST00000429344p.R179Rc.537C>TSubstitution - coding silent
CACTINENSG00000105298ENST00000221899p.R111Rc.333C>TSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.L3305Lc.9915G>ASubstitution - coding silent
ZKSCAN1ENSG00000106261ENST00000324306p.Q191*c.571C>TSubstitution - Nonsense
AOC1ENSG00000002726ENST00000360937p.T670Mc.2009C>TSubstitution - Missense
PNMA5ENSG00000198883ENST00000361887p.Q245*c.733C>TSubstitution - Nonsense
L1CAMENSG00000198910ENST00000370060p.L414Lc.1240C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.L467Lc.1401G>ASubstitution - coding silent
RRM2BENSG00000048392ENST00000251810p.Q48Qc.144G>ASubstitution - coding silent
ERN2ENSG00000134398ENST00000256797p.R607Rc.1821G>ASubstitution - coding silent
HK3ENSG00000160883ENST00000292432p.R775Pc.2324G>CSubstitution - Missense
RCAN2ENSG00000172348ENST00000371374p.W35Cc.105G>TSubstitution - Missense
KLHL41ENSG00000239474ENST00000284669p.L603Lc.1809G>ASubstitution - coding silent
RC3H2ENSG00000056586ENST00000373670p.?c.3117+6G>AUnknown
LAMC3ENSG00000050555ENST00000361069p.?c.1939+3C>TUnknown
BICC1ENSG00000122870ENST00000263103p.S73Lc.218C>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.L49Lc.147G>ASubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.L369Lc.1107G>ASubstitution - coding silent
PRKCDENSG00000163932ENST00000394729p.?c.1415+4C>TUnknown
CEACAM1ENSG00000079385ENST00000358394p.T247Tc.741C>TSubstitution - coding silent
PRMT1ENSG00000126457ENST00000454376p.R371Hc.1112G>ASubstitution - Missense
ABCB6ENSG00000115657ENST00000265316p.?c.2351+7G>AUnknown
RHBDF1ENSG00000007384ENST00000454039p.R5Rc.15C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.P1392Pc.4176G>ASubstitution - coding silent
SLC4A5ENSG00000188687ENST00000377634p.H482Yc.1444C>TSubstitution - Missense
TOMM70AENSG00000154174ENST00000284320p.A228Ac.684C>TSubstitution - coding silent
GIGYF2ENSG00000204120ENST00000452341p.Q383*c.1147C>TSubstitution - Nonsense
TAF8ENSG00000137413ENST00000456846p.I290Ic.870C>TSubstitution - coding silent
ACSL6ENSG00000164398ENST00000379249p.R402Qc.1205G>ASubstitution - Missense
STAT5AENSG00000126561ENST00000452307p.Q117*c.349C>TSubstitution - Nonsense
ABCB8ENSG00000197150ENST00000542328p.C172Yc.515G>ASubstitution - Missense
TTYH3ENSG00000136295ENST00000403167p.M230Ic.690G>ASubstitution - Missense
SLC45A4ENSG00000022567ENST00000517878p.R358Hc.1073G>ASubstitution - Missense
TAS2R39ENSG00000236398ENST00000446620p.R324Wc.970C>TSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.R915Hc.2744G>ASubstitution - Missense
PYGMENSG00000068976ENST00000164139p.N134Nc.402C>TSubstitution - coding silent
NSUN4ENSG00000117481ENST00000474844p.N317Nc.951C>TSubstitution - coding silent
UPK1BENSG00000114638ENST00000264234p.A90Vc.269C>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.G2232Cc.6694G>TSubstitution - Missense
SPG7ENSG00000197912ENST00000268704p.R391Lc.1172G>TSubstitution - Missense
ABCB10ENSG00000135776ENST00000344517p.V428Mc.1282G>ASubstitution - Missense
RPL28ENSG00000108107ENST00000558815p.R94Kc.281G>ASubstitution - Missense
NM_024947.2p.L320Ic.958C>ASubstitution - Missense
TPM1ENSG00000140416ENST00000334895p.C154Sc.461G>CSubstitution - Missense
VPS28ENSG00000160948ENST00000292510p.T138Mc.413C>TSubstitution - Missense
FAIMENSG00000158234ENST00000393035p.D119Hc.355G>CSubstitution - Missense
FKBP15ENSG00000119321ENST00000446284p.A286Tc.856G>ASubstitution - Missense
SETD5ENSG00000168137ENST00000402198p.R532Wc.1594C>TSubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.S896Nc.2687G>ASubstitution - Missense
ENST00000262017p.T355Ic.1064C>TSubstitution - Missense
CHST14ENSG00000169105ENST00000306243p.L220Fc.658C>TSubstitution - Missense
CLCC1ENSG00000121940ENST00000369971p.T506Ic.1517C>TSubstitution - Missense
DDX59ENSG00000118197ENST00000331314p.V451Mc.1351G>ASubstitution - Missense
ENST00000367349p.V451Mc.1351G>ASubstitution - Missense
LRCH1ENSG00000136141ENST00000389798p.R699Hc.2096G>ASubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.G343Gc.1029C>TSubstitution - coding silent
STIM1ENSG00000167323ENST00000300737p.S28Nc.83G>ASubstitution - Missense
OR10AD1ENSG00000172640ENST00000310248p.R123Cc.367C>TSubstitution - Missense
POLEENSG00000177084ENST00000320574p.?c.3379-3C>TUnknown
EPHA8ENSG00000070886ENST00000166244p.T168Tc.504G>ASubstitution - coding silent
ADAMTSL3ENSG00000156218ENST00000286744p.H1649Hc.4947C>TSubstitution - coding silent
CIDEBENSG00000136305ENST00000336557p.L358Pc.1073T>CSubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.H2750Hc.8250C>TSubstitution - coding silent
COL2A1ENSG00000139219ENST00000380518p.N1303Nc.3909C>TSubstitution - coding silent
ENSG00000256349ENST00000419755p.T260Tc.780C>TSubstitution - coding silent
FAN1ENSG00000198690ENST00000561594p.L253Ic.757C>ASubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368016p.S694Nc.2081G>ASubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.C181Cc.543C>TSubstitution - coding silent
WDR66ENSG00000158023ENST00000288912p.Q51Qc.153G>ASubstitution - coding silent
ENST00000300167p.Q139Qc.417G>ASubstitution - coding silent
LTBP3ENSG00000168056ENST00000322147p.D302Dc.906C>TSubstitution - coding silent
SLC25A45ENSG00000162241ENST00000398802p.S248Sc.744C>TSubstitution - coding silent
COPAENSG00000122218ENST00000368069p.Y370Yc.1110C>TSubstitution - coding silent
RGMAENSG00000182175ENST00000557301p.P55Pc.165G>ASubstitution - coding silent
BICC1ENSG00000122870ENST00000373886p.A263Vc.788C>TSubstitution - Missense
CHIAENSG00000134216ENST00000369740p.L16Lc.48G>ASubstitution - coding silent
SORT1ENSG00000134243ENST00000256637p.Q225*c.673C>TSubstitution - Nonsense
GALNT16ENSG00000100626ENST00000337827p.P467Pc.1401G>ASubstitution - coding silent
ACSM2AENSG00000183747ENST00000396104p.H2Yc.4C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.V644Ic.1930G>ASubstitution - Missense
BCO2ENSG00000197580ENST00000357685p.C53Yc.158G>ASubstitution - Missense
FAM81AENSG00000157470ENST00000288228p.R107Wc.319C>TSubstitution - Missense
CCPG1ENSG00000260916ENST00000310958p.L447Lc.1341G>ASubstitution - coding silent
NM_014363.3p.S3628Sc.10884C>TSubstitution - coding silent
ARHGAP11AENSG00000198826ENST00000361627p.L11Lc.33G>ASubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.Q597*c.1789C>TSubstitution - Nonsense
MROH2BENSG00000171495ENST00000399564p.A809Tc.2425G>ASubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.S762Sc.2286C>TSubstitution - coding silent
SLC45A1ENSG00000162426ENST00000289877p.D431Dc.1293C>TSubstitution - coding silent
STMN1ENSG00000117632ENST00000426559p.H103Hc.309C>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370725p.L49Lc.147G>ASubstitution - coding silent
XPNPEP2ENSG00000122121ENST00000371106p.P198Lc.593C>TSubstitution - Missense
MDH1BENSG00000138400ENST00000374412p.?c.1460-4G>AUnknown
POLRMTENSG00000099821ENST00000588649p.A836Vc.2507C>TSubstitution - Missense
CSPP1ENSG00000104218ENST00000262210p.G721Sc.2161G>ASubstitution - Missense
ENST00000409172p.Q227*c.679C>TSubstitution - Nonsense
CNTNAP3ENSG00000106714ENST00000297668p.R414Cc.1240C>TSubstitution - Missense
ZNF800ENSG00000048405ENST00000393312p.Q97Qc.291G>ASubstitution - coding silent
C17orf97ENSG00000187624ENST00000360127p.R198Qc.593G>ASubstitution - Missense
CHD3ENSG00000170004ENST00000330494p.T376Tc.1128G>ASubstitution - coding silent
SLC13A2ENSG00000007216ENST00000444914p.L143Vc.427C>GSubstitution - Missense
ENST00000328585_v65p.?c.37-3C>TUnknown
DNAH1ENSG00000114841ENST00000420323p.H2129Qc.6387C>GSubstitution - Missense
USP19ENSG00000172046ENST00000434032p.Q448*c.1342C>TSubstitution - Nonsense
KLBENSG00000134962ENST00000257408p.H248Yc.742C>TSubstitution - Missense
ENST00000356127p.Y30893Yc.92679C>TSubstitution - coding silent
ANGPT4ENSG00000101280ENST00000381922p.G363Gc.1089C>TSubstitution - coding silent
PASKENSG00000115687ENST00000234040p.Q732Qc.2196G>ASubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.A2699Tc.8095G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.V48Ic.142G>ASubstitution - Missense
FBXO45ENSG00000174013ENST00000311630p.A187Vc.560C>TSubstitution - Missense
ZBTB45ENSG00000119574ENST00000354590p.T119Tc.357G>ASubstitution - coding silent
ZSCAN5DENSG00000267908ENST00000600684p.V338Ic.1012G>ASubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.H527Hc.1581C>TSubstitution - coding silent
MPC1ENSG00000060762ENST00000360961p.Q74Qc.222G>ASubstitution - coding silent
NMBRENSG00000135577ENST00000258042p.R310Qc.929G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.G2723Sc.8167G>ASubstitution - Missense
SLC9C1ENSG00000172139ENST00000305815p.M817Vc.2449A>GSubstitution - Missense
SRPK1ENSG00000096063ENST00000373822p.C249Yc.746G>ASubstitution - Missense
C9orf84ENSG00000165181ENST00000374287p.R1258Cc.3772C>TSubstitution - Missense
DMRT1ENSG00000137090ENST00000382276p.P13Pc.39G>ASubstitution - coding silent
RUNDC1ENSG00000198863ENST00000361677p.F500Fc.1500C>TSubstitution - coding silent
ACBD4ENSG00000181513ENST00000398322p.L187Lc.559C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000442283p.A595Vc.1784C>TSubstitution - Missense
PNCKENSG00000130822ENST00000447676p.S212Nc.635G>ASubstitution - Missense
SOX7ENSG00000171056ENST00000304501p.L315Lc.943C>TSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.Q2222Qc.6666G>ASubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.Q1948Qc.5844G>ASubstitution - coding silent
GCKENSG00000106633ENST00000345378p.S337Sc.1011G>ASubstitution - coding silent
LRFN1ENSG00000128011ENST00000248668p.P348Pc.1044G>ASubstitution - coding silent
DLK2ENSG00000171462ENST00000357338p.T97Tc.291G>ASubstitution - coding silent
PWWP2BENSG00000171813ENST00000368609p.Q79Qc.237G>ASubstitution - coding silent
COL13A1ENSG00000197467ENST00000356340p.V246Lc.736G>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.P4262Sc.12784C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.D1447Nc.4339G>ASubstitution - Missense
FLNBENSG00000136068ENST00000357272p.L40Lc.120G>ASubstitution - coding silent
FAM129CENSG00000167483ENST00000595684p.?c.149-4G>AUnknown
SLIT3ENSG00000184347ENST00000404867p.R154Rc.462C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000435847p.A269Vc.806C>TSubstitution - Missense
CYTH1ENSG00000108669ENST00000446868p.S377Sc.1131C>TSubstitution - coding silent
KIF18BENSG00000186185ENST00000590129p.G790Dc.2369G>ASubstitution - Missense
KREMEN1ENSG00000183762ENST00000400335p.?c.478-3C>TUnknown
MUC12ENSG00000205277ENST00000379442p.S4899Sc.14697C>TSubstitution - coding silent
TTYH3ENSG00000136295ENST00000403167p.A298Tc.892G>ASubstitution - Missense
ENST00000242365_v65p.R1225Qc.3674G>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.R2518*c.7552C>TSubstitution - Nonsense
FGF8ENSG00000107831ENST00000320185p.A104Tc.310G>ASubstitution - Missense
PRMT5ENSG00000100462ENST00000324366p.S632Lc.1895C>TSubstitution - Missense
RIN1ENSG00000174791ENST00000311320p.R195Wc.583C>TSubstitution - Missense
SLC5A6ENSG00000138074ENST00000310574p.P164Lc.491C>TSubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.A904Tc.2710G>ASubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.T662Ic.1985C>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.A2408Vc.7223C>TSubstitution - Missense
ENST00000412131p.D701Nc.2101G>ASubstitution - Missense
EBF4ENSG00000088881ENST00000380648p.R164Wc.490C>TSubstitution - Missense
DET1ENSG00000140543ENST00000564406p.M556Tc.1667T>CSubstitution - Missense
RBBP5ENSG00000117222ENST00000264515p.P498Lc.1493C>TSubstitution - Missense
XIAPENSG00000101966ENST00000434753p.T437Ic.1310C>TSubstitution - Missense
KIAA1586ENSG00000168116ENST00000370733p.C315Yc.944G>ASubstitution - Missense
ENST00000411702p.A4095Vc.12284C>TSubstitution - Missense
ASCC2ENSG00000100325ENST00000397771p.A50Tc.148G>ASubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.R930Qc.2789G>ASubstitution - Missense
DMPKENSG00000104936ENST00000291270p.P321Lc.962C>TSubstitution - Missense
JAK2ENSG00000096968ENST00000381652p.H172Rc.515A>GSubstitution - Missense
DAKENSG00000149476ENST00000394900p.R48Wc.142C>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.R182Cc.544C>TSubstitution - Missense
KDM5CENSG00000126012ENST00000375401p.R313Qc.938G>ASubstitution - Missense
NNMTENSG00000166741ENST00000299964p.A74Vc.221C>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.S1112Nc.3335G>ASubstitution - Missense
LRRTM2ENSG00000146006ENST00000274711p.A33Vc.98C>TSubstitution - Missense
SFPQENSG00000116560ENST00000357214p.S521Nc.1562G>ASubstitution - Missense
IKENSG00000113141ENST00000417647p.R258Hc.773G>ASubstitution - Missense
YIF1BENSG00000167645ENST00000339413p.P155Lc.464C>TSubstitution - Missense
NM_007170p.A520Vc.1559C>TSubstitution - Missense
NCAPHENSG00000121152ENST00000240423p.A249Tc.745G>ASubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.M968Ic.2904G>ASubstitution - Missense
NM_014422.1p.R507Hc.1520G>ASubstitution - Missense
ENST00000335500p.T389Ic.1166C>TSubstitution - Missense
MTMR4ENSG00000108389ENST00000323456p.M611Ic.1833G>ASubstitution - Missense
GIMAP2ENSG00000106560ENST00000223293p.G211Cc.631G>TSubstitution - Missense
LARP1BENSG00000138709ENST00000326639p.S369Lc.1106C>TSubstitution - Missense
ENST00000376679p.Q53Qc.159G>ASubstitution - coding silent
DLEU1ENSG00000176124ENST00000378180p.G29Ac.86G>CSubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.Y996*c.2988C>GSubstitution - Nonsense
PLCZ1ENSG00000139151ENST00000266505p.Q371Qc.1113G>ASubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000368194p.R674Rc.2022C>TSubstitution - coding silent
SLC28A1ENSG00000156222ENST00000338602p.K135Kc.405G>ASubstitution - coding silent
SLC28A1ENSG00000156222ENST00000537624p.K135Kc.405G>ASubstitution - coding silent
ENST00000368915p.S2463Sc.7389G>ASubstitution - coding silent
ADAMTS7ENSG00000136378ENST00000388820p.V1305Vc.3915C>TSubstitution - coding silent
TXLNAENSG00000084652ENST00000373609p.L443Lc.1329G>ASubstitution - coding silent
SRSF4ENSG00000116350ENST00000373795p.D398Dc.1194C>TSubstitution - coding silent
TDGENSG00000139372ENST00000392872p.?c.1090+5G>TUnknown
MTMR11ENSG00000014914ENST00000369140p.Q13*c.37C>TSubstitution - Nonsense
ENST00000398860p.R2748Cc.8242C>TSubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.A280Tc.838G>ASubstitution - Missense
SLC35E2BENSG00000189339ENST00000378662p.?c.835-5C>TUnknown
LEPRE1ENSG00000117385ENST00000296388p.R471Wc.1411C>TSubstitution - Missense
YLPM1ENSG00000119596ENST00000325680p.R1232Cc.3694C>TSubstitution - Missense
ATXN7L2ENSG00000162650ENST00000369870p.?c.510-1G>AUnknown
GPR89AENSG00000117262ENST00000313835p.C52Yc.155G>ASubstitution - Missense
FMODENSG00000122176ENST00000354955p.P46Pc.138G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313431p.G331Vc.992G>TSubstitution - Missense
PADI3ENSG00000142619ENST00000375460p.Q339Qc.1017G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.R518Cc.1552C>TSubstitution - Missense
NM_004330.1p.P16Pc.48G>ASubstitution - coding silent
NRXN3ENSG00000021645ENST00000335750p.D173Nc.517G>ASubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.S130Sc.390G>ASubstitution - coding silent
AIM1LENSG00000176092ENST00000308182p.F309Fc.927C>TSubstitution - coding silent
DEGS2ENSG00000168350ENST00000305631p.M37Ic.111G>ASubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.G19Gc.57C>TSubstitution - coding silent
CAPN6ENSG00000077274ENST00000324068p.T574Ic.1721C>TSubstitution - Missense
ENST00000356127p.A2724Vc.8171C>TSubstitution - Missense
NM_003319p.A2678Vc.8033C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.S4347Nc.13040G>ASubstitution - Missense
KLK7ENSG00000169035ENST00000304045p.A21Vc.62C>TSubstitution - Missense
KLK15ENSG00000174562ENST00000326856p.T129Tc.387G>ASubstitution - coding silent
SRSF2ENSG00000161547ENST00000359995p.K52Kc.156G>ASubstitution - coding silent
ITGB4ENSG00000132470ENST00000200181p.A1135Vc.3404C>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.A1135Vc.3404C>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.C1070Cc.3210C>TSubstitution - coding silent
RBM5ENSG00000003756ENST00000347869p.Q687*c.2059C>TSubstitution - Nonsense
WDR27ENSG00000184465ENST00000448612p.R610Qc.1829G>ASubstitution - Missense
SYNJ1ENSG00000159082ENST00000433931p.?c.329-4G>AUnknown
GPR179ENSG00000188888ENST00000342292p.S1727Fc.5180C>TSubstitution - Missense
ENST00000262719_v68p.S1470Sc.4410C>TSubstitution - coding silent
TRRAPENSG00000196367ENST00000359863p.P2740Pc.8220G>ASubstitution - coding silent
TRRAPENSG00000196367ENST00000355540p.P3525Pc.10575C>TSubstitution - coding silent
BMPR2ENSG00000204217ENST00000374580p.Q28Qc.84G>ASubstitution - coding silent
NM_003319p.A26433Vc.79298C>TSubstitution - Missense
PRDM7ENSG00000126856ENST00000325921p.L40Lc.118C>TSubstitution - coding silent
GAS8ENSG00000141013ENST00000268699p.?c.757-10G>AUnknown
MYH13ENSG00000006788ENST00000252172p.A395Tc.1183G>ASubstitution - Missense
OTOFENSG00000115155ENST00000272371p.R761Wc.2281C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.A701Tc.2101G>ASubstitution - Missense
ZMAT5ENSG00000100319ENST00000344318p.W113*c.339G>ASubstitution - Nonsense
TPTEENSG00000166157ENST00000298232p.R44Qc.131G>ASubstitution - Missense
BCORENSG00000183337ENST00000378463p.T613fs*39c.1837delADeletion - Frameshift
NLGN2ENSG00000169992ENST00000302926p.H582Hc.1746C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000316341p.T147Ic.440C>TSubstitution - Missense
GIGYF2ENSG00000204120ENST00000409451p.A593Vc.1778C>TSubstitution - Missense
SU_SPEGp.G317Rc.949G>ASubstitution - Missense
ENST00000373702p.A249Tc.745G>ASubstitution - Missense
ERCC1ENSG00000012061ENST00000013807p.A272Sc.814G>TSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.L572Lc.1714C>TSubstitution - coding silent
KIAA1683ENSG00000130518ENST00000392413p.Q67*c.199C>TSubstitution - Nonsense
QPRTENSG00000103485ENST00000395384p.A85Ac.255C>TSubstitution - coding silent
NM_152405.1p.Q286Qc.858G>ASubstitution - coding silent
ACBD4ENSG00000181513ENST00000431281p.S199Sc.597C>TSubstitution - coding silent
RNF20ENSG00000155827ENST00000389120p.K242Kc.726G>ASubstitution - coding silent
GIMAP6ENSG00000133561ENST00000328902p.Q249Qc.747G>ASubstitution - coding silent
CCT6BENSG00000132141ENST00000314144p.A126Tc.376G>ASubstitution - Missense
LRRC37BENSG00000185158ENST00000341671p.C612Cc.1836C>TSubstitution - coding silent
ENST00000316490_v65p.A1245Tc.3733G>ASubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.P347Sc.1039C>TSubstitution - Missense
ENST00000248668_v71p.L479Lc.1437G>ASubstitution - coding silent
FAM129CENSG00000167483ENST00000335393p.?c.149-4G>AUnknown
NBASENSG00000151779ENST00000281513p.?c.6237-3C>TUnknown
LNX1ENSG00000072201ENST00000263925p.C652Cc.1956C>TSubstitution - coding silent
GARNL3ENSG00000136895ENST00000373387p.?c.2528-1G>AUnknown
GP5ENSG00000178732ENST00000323007p.R107Cc.319C>TSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.H1674Hc.5022T>CSubstitution - coding silent
PPFIA2ENSG00000139220ENST00000333447p.R461Hc.1382G>ASubstitution - Missense
SLMAPENSG00000163681ENST00000383718p.?c.520-2A>GUnknown
RAB11FIP3ENSG00000090565ENST00000457159p.L519Lc.1555C>TSubstitution - coding silent
BUB1BENSG00000156970ENST00000412359p.?c.36-3C>TUnknown
SLC35C2ENSG00000080189ENST00000543605p.?c.208-3C>TUnknown
ENST00000307015p.Q19*c.55C>TSubstitution - Nonsense
COL9A1ENSG00000112280ENST00000370499p.A661Tc.1981G>ASubstitution - Missense
CYFIP2ENSG00000055163ENST00000435847p.R808Wc.2422C>TSubstitution - Missense
CTU2ENSG00000174177ENST00000567949p.Q26*c.76C>TSubstitution - Nonsense
DNAH17ENSG00000187775ENST00000389840p.E229Ec.687G>ASubstitution - coding silent
RDH8ENSG00000080511ENST00000591589p.L182Lc.544C>TSubstitution - coding silent
MCMDC2ENSG00000178460ENST00000313616p.L330Vc.988C>GSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.?c.6077-3C>TUnknown
ADIPOR1ENSG00000159346ENST00000340990p.G269Gc.807C>TSubstitution - coding silent
PLXNB1ENSG00000164050ENST00000296440p.R210Hc.629G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.R923*c.2767C>TSubstitution - Nonsense
KIAA1462ENSG00000165757ENST00000375377p.P260Pc.780G>ASubstitution - coding silent
BPTFENSG00000171634ENST00000335221p.A2055Tc.6163G>ASubstitution - Missense
ALDH2ENSG00000111275ENST00000261733p.A310Tc.928G>ASubstitution - Missense
CEP41ENSG00000106477ENST00000223208p.A272Tc.814G>ASubstitution - Missense
ELOVL5ENSG00000012660ENST00000304434p.R297Wc.889C>TSubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.V1187Mc.3559G>ASubstitution - Missense
MED8ENSG00000159479ENST00000290663p.R91Wc.271C>TSubstitution - Missense
NHSL2ENSG00000204131ENST00000540800p.R925Wc.2773C>TSubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.G140Dc.419G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.R873Cc.2617C>TSubstitution - Missense
ZDHHC7ENSG00000153786ENST00000564466p.F63Sc.188T>CSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.R824Hc.2471G>ASubstitution - Missense
ZNF473ENSG00000142528ENST00000391821p.V835Lc.2503G>CSubstitution - Missense
RADILENSG00000157927ENST00000399583p.S907Nc.2720G>ASubstitution - Missense
DPEP1ENSG00000015413ENST00000261615p.A341Tc.1021G>ASubstitution - Missense
RRNAD1ENSG00000143303ENST00000368216p.R405Hc.1214G>ASubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.R527Qc.1580G>ASubstitution - Missense
MLF1ENSG00000178053ENST00000392822p.R278Kc.833G>ASubstitution - Missense
B4GALT2ENSG00000117411ENST00000356836p.L109Vc.325C>GSubstitution - Missense
SPG7ENSG00000197912ENST00000341316p.R391Lc.1172G>TSubstitution - Missense
EFTUD2ENSG00000108883ENST00000426333p.A503Vc.1508C>TSubstitution - Missense
KIF18BENSG00000186185ENST00000339151p.A576Vc.1727C>TSubstitution - Missense
PRC1ENSG00000198901ENST00000394249p.P32Lc.95C>TSubstitution - Missense
BUB3ENSG00000154473ENST00000368865p.S285Nc.854G>ASubstitution - Missense
UBLCP1ENSG00000164332ENST00000296786p.A55Tc.163G>ASubstitution - Missense
IDEENSG00000119912ENST00000265986p.L114Ic.340C>ASubstitution - Missense
SLC35C2ENSG00000080189ENST00000372227p.A275Tc.823G>ASubstitution - Missense
SEC63ENSG00000025796ENST00000369002p.T463Ic.1388C>TSubstitution - Missense
GAREMLENSG00000157833ENST00000401533p.L81Lc.243G>ASubstitution - coding silent
CD55ENSG00000196352ENST00000314754p.Y133*c.399C>GSubstitution - Nonsense
C1orf147ENSG00000162888ENST00000367119p.R31Kc.92G>ASubstitution - Missense
PALMDENSG00000099260ENST00000263174p.Q12Hc.36G>TSubstitution - Missense
BPTFENSG00000171634ENST00000306378p.A1929Tc.5785G>ASubstitution - Missense
MXRA8ENSG00000162576ENST00000309212p.A391Tc.1171G>ASubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.A1811Vc.5432C>TSubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.?c.1053-1G>AUnknown
TRMT13ENSG00000122435ENST00000370141p.W199*c.596G>ASubstitution - Nonsense
ZFYVE27ENSG00000155256ENST00000356257p.?c.551+1G>AUnknown
C10orf12ENSG00000155640ENST00000286067p.S1194Yc.3581C>ASubstitution - Missense
LRIT1ENSG00000148602ENST00000372105p.A55Tc.163G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.L167Lc.499C>TSubstitution - coding silent
BTBD1ENSG00000064726ENST00000261721p.Q255*c.763C>TSubstitution - Nonsense
MYOM3ENSG00000142661ENST00000374434p.?c.1233-3C>TUnknown
DDR2ENSG00000162733ENST00000367922p.L63Lc.187C>TSubstitution - coding silent
DCDC2BENSG00000222046ENST00000409358p.Q170*c.508C>TSubstitution - Nonsense
MATN1ENSG00000162510ENST00000373765p.L463Lc.1389G>ASubstitution - coding silent
GCN1L1ENSG00000089154ENST00000300648p.L58Lc.174G>ASubstitution - coding silent
SZT2ENSG00000198198ENST00000562955p.G2943Gc.8829C>TSubstitution - coding silent
EPB42ENSG00000166947ENST00000300215p.L249Lc.747G>ASubstitution - coding silent
PDIA3ENSG00000167004ENST00000300289p.W279*c.836G>ASubstitution - Nonsense
STARD9ENSG00000159433ENST00000290607p.L1214Lc.3640C>TSubstitution - coding silent
C10orf71ENSG00000177354ENST00000374144p.L854Lc.2560C>TSubstitution - coding silent
PCNXENSG00000100731ENST00000304743p.L1913Lc.5739G>ASubstitution - coding silent
IGFALSENSG00000099769ENST00000215539p.S150Sc.450G>ASubstitution - coding silent
SMG1ENSG00000157106ENST00000446231p.S1156Nc.3467G>ASubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.A126Ac.378G>ASubstitution - coding silent
MAGI3ENSG00000081026ENST00000369615p.V205Ic.613G>ASubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.V316Lc.946G>TSubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.?c.798-5G>AUnknown
KCNH5ENSG00000140015ENST00000394968p.M369Tc.1106T>CSubstitution - Missense
XM_372532.2p.Y222Yc.666C>TSubstitution - coding silent
SLC35F4ENSG00000151812ENST00000339762p.C464Cc.1392C>TSubstitution - coding silent
NUDCENSG00000090273ENST00000321265p.N134Nc.402C>TSubstitution - coding silent
NEXNENSG00000162614ENST00000334785p.M77Ic.231G>ASubstitution - Missense
PRPS1ENSG00000147224ENST00000372435p.C77Cc.231C>TSubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.S1231Lc.3692C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.I1022Vc.3064A>GSubstitution - Missense
ENST00000422365_v68p.L330Vc.988C>GSubstitution - Missense
MTFR1ENSG00000066855ENST00000262146p.P128Rc.383C>GSubstitution - Missense
CEP250ENSG00000126001ENST00000397527p.E649Dc.1947G>TSubstitution - Missense
PEPDENSG00000124299ENST00000244137p.?c.967+9C>TUnknown
AIPL1ENSG00000129221ENST00000381129p.M326Ic.978G>ASubstitution - Missense
SU_KSR1p.T352Tc.1056C>TSubstitution - coding silent
UGDHENSG00000109814ENST00000316423p.Q155*c.463C>TSubstitution - Nonsense
ALBENSG00000163631ENST00000295897p.R138fs*8c.407_408insCInsertion - Frameshift
PNMTENSG00000141744ENST00000269582p.L211Pc.632T>CSubstitution - Missense
GPR113ENSG00000173567ENST00000333478p.D347Dc.1041C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.Y30895Yc.92685C>TSubstitution - coding silent
CRYBB1ENSG00000100122ENST00000215939p.L116Lc.348G>ASubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400248p.T167Tc.501G>ASubstitution - coding silent
ZNRF3ENSG00000183579ENST00000406323p.P380Rc.1139C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2768Hc.8303C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
NIPSNAP1ENSG00000184117ENST00000216121p.Q215Qc.645G>ASubstitution - coding silent
NDUFA11ENSG00000174886ENST00000418389p.L192Lc.574C>TSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.T1345Tc.4035G>ASubstitution - coding silent
NM_152536.2p.N426Nc.1278C>TSubstitution - coding silent
MECP2ENSG00000169057ENST00000303391p.F142Fc.426C>TSubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.E487Gc.1460A>GSubstitution - Missense
UGGT1ENSG00000136731ENST00000259253p.L117Lc.351G>ASubstitution - coding silent
SP110ENSG00000135899ENST00000258381p.C588Cc.1764C>TSubstitution - coding silent
ZC3H8ENSG00000144161ENST00000409573p.D88Dc.264T>CSubstitution - coding silent
PTCRAENSG00000171611ENST00000304672p.S117Nc.350G>ASubstitution - Missense
EFEMP1ENSG00000115380ENST00000394554p.?c.761-4T>CUnknown
TBC1D9ENSG00000109436ENST00000442267p.E829Ec.2487A>GSubstitution - coding silent
POGLUT1ENSG00000163389ENST00000295588p.Q240Qc.720G>ASubstitution - coding silent
KAT2AENSG00000108773ENST00000225916p.D284Dc.852C>TSubstitution - coding silent
LPOENSG00000167419ENST00000262290p.A368Vc.1103C>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.G546Dc.1637G>ASubstitution - Missense
PNCKENSG00000130822ENST00000370145p.S146Nc.437G>ASubstitution - Missense
IGLL5ENSG00000254709ENST00000526893p.T211Ic.632C>TSubstitution - Missense
CEACAM1ENSG00000079385ENST00000161559p.T247Tc.741C>TSubstitution - coding silent
TSC2ENSG00000103197ENST00000219476p.Q1525Qc.4575G>ASubstitution - coding silent
KIF12ENSG00000136883ENST00000374118p.R180Qc.539G>ASubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.Q1346*c.4036C>TSubstitution - Nonsense
EFR3AENSG00000132294ENST00000254624p.R303Hc.908G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000377157p.?c.705-1G>AUnknown
RAB3IPENSG00000127328ENST00000378815p.V25Vc.75G>ASubstitution - coding silent
LRRC56ENSG00000161328ENST00000270115p.R467Wc.1399C>TSubstitution - Missense
MYO5AENSG00000197535ENST00000358212p.L1502Lc.4504C>TSubstitution - coding silent
BUB1BENSG00000156970ENST00000412359p.Q56Qc.168G>ASubstitution - coding silent
CTPS1ENSG00000171793ENST00000543104p.R212Kc.635G>ASubstitution - Missense
TFDP1ENSG00000198176ENST00000544902p.V74Ic.220G>ASubstitution - Missense
FLNBENSG00000136068ENST00000295956p.D978Dc.2934C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000325215p.?c.2433+1G>AUnknown
KIF18BENSG00000186185ENST00000590129p.A585Vc.1754C>TSubstitution - Missense
MERTKENSG00000153208ENST00000295408p.G787Gc.2361C>TSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400242p.T167Tc.501G>ASubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400246p.T167Tc.501G>ASubstitution - coding silent
HDAC6ENSG00000094631ENST00000444343p.Q519Qc.1557G>ASubstitution - coding silent
GSNENSG00000148180ENST00000436847p.T705Tc.2115C>TSubstitution - coding silent
G6PDENSG00000160211ENST00000369620p.C492Cc.1476C>TSubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000368194p.A683Ac.2049G>ASubstitution - coding silent
B3GNT4ENSG00000176383ENST00000324189p.R290Hc.869G>ASubstitution - Missense
C7orf55-LUC7L2ENSG00000146963ENST00000541170p.R311Cc.931C>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.A310Tc.928G>ASubstitution - Missense
LUZP1ENSG00000169641ENST00000374623p.S593Nc.1778G>ASubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.A1239Tc.3715G>ASubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.A448Tc.1342G>ASubstitution - Missense
ZNF689ENSG00000156853ENST00000287461p.G201Sc.601G>ASubstitution - Missense
APAF1ENSG00000120868ENST00000551964p.C705Yc.2114G>ASubstitution - Missense
MAPK6ENSG00000069956ENST00000261845p.H236Yc.706C>TSubstitution - Missense
ZNF408ENSG00000175213ENST00000311764p.R512Cc.1534C>TSubstitution - Missense
OTUD7BENSG00000163113ENST00000369135p.G190Rc.568G>ASubstitution - Missense
SEZ6L2ENSG00000174938ENST00000350527p.S679Nc.2036G>ASubstitution - Missense
ATP6AP2ENSG00000182220ENST00000378438p.S304Sc.912C>TSubstitution - coding silent
GNAO1ENSG00000087258ENST00000262493p.D65Dc.195C>TSubstitution - coding silent
PALB2ENSG00000083093ENST00000261584p.P65Pc.195G>ASubstitution - coding silent
TMEM63CENSG00000165548ENST00000298351p.V345Ic.1033G>ASubstitution - Missense
NPRL2ENSG00000114388ENST00000232501p.D173Ac.518A>CSubstitution - Missense
ZNF20ENSG00000132010ENST00000334213p.V238Ac.713T>CSubstitution - Missense
PSD3ENSG00000156011ENST00000327040p.A189Tc.565G>ASubstitution - Missense
ZBTB40ENSG00000184677ENST00000404138p.C749Yc.2246G>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.M960Tc.2879T>CSubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.A206Vc.617C>TSubstitution - Missense
ZNF562ENSG00000171466ENST00000293648p.T198Ac.592A>GSubstitution - Missense
PEF1ENSG00000162517ENST00000373703p.V115Mc.343G>ASubstitution - Missense
USP9XENSG00000124486ENST00000324545p.H238Yc.712C>TSubstitution - Missense
PCSK7ENSG00000160613ENST00000320934p.A469Tc.1405G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.L3770Fc.11308C>TSubstitution - Missense
VWA8ENSG00000102763ENST00000379310p.Y607Cc.1820A>GSubstitution - Missense
ST18ENSG00000147488ENST00000276480p.L579Mc.1735C>ASubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.T154Rc.461C>GSubstitution - Missense
SHANK3ENSG00000251322ENST00000262795p.A326Tc.976G>ASubstitution - Missense
TBC1D30ENSG00000111490ENST00000229088p.V625Mc.1873G>ASubstitution - Missense
CDC42BPGENSG00000171219ENST00000342711p.A1325Vc.3974C>TSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.S458Nc.1373G>ASubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.G140Dc.419G>ASubstitution - Missense
SU_SMG1p.C290Yc.869G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.T308Ic.923C>TSubstitution - Missense
TEFMENSG00000172171ENST00000581216p.S218Ac.652T>GSubstitution - Missense
UNC45AENSG00000140553ENST00000418476p.T230Ic.689C>TSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.A4369Vc.13106C>TSubstitution - Missense
ATXN7ENSG00000163635ENST00000295900p.A596Vc.1787C>TSubstitution - Missense
SPIRE2ENSG00000204991ENST00000378247p.A95Vc.284C>TSubstitution - Missense
SP100ENSG00000067066ENST00000264052p.K761fs*40c.2275delADeletion - Frameshift
CYP1A2ENSG00000140505ENST00000343932p.R79Hc.236G>ASubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.T1446Mc.4337C>TSubstitution - Missense
TMEM63AENSG00000196187ENST00000366835p.V342Ic.1024G>ASubstitution - Missense
HSD17B12ENSG00000149084ENST00000278353p.S91Sc.273C>TSubstitution - coding silent
MYOFENSG00000138119ENST00000359263p.P239Pc.717T>CSubstitution - coding silent
CELA2BENSG00000215704ENST00000375910p.L69Lc.207G>ASubstitution - coding silent
ENST00000229088_v71p.V902Mc.2704G>ASubstitution - Missense
RHBGENSG00000132677ENST00000451864p.A147Ac.441C>TSubstitution - coding silent
BEST1ENSG00000167995ENST00000449131p.L228Lc.682C>TSubstitution - coding silent
SEPHS1ENSG00000086475ENST00000327347p.?c.194-10A>GUnknown
BRF1ENSG00000185024ENST00000440513p.?c.127-8C>TUnknown
RYR2ENSG00000198626ENST00000366574p.D1449Nc.4345G>ASubstitution - Missense
STK40ENSG00000196182ENST00000359297p.Q64Qc.192G>ASubstitution - coding silent
SYVN1ENSG00000162298ENST00000377190p.L151Lc.453G>ASubstitution - coding silent
ARHGAP30ENSG00000186517ENST00000368013p.V204Mc.610G>ASubstitution - Missense
KCNJ11ENSG00000187486ENST00000339994p.L310Lc.930G>ASubstitution - coding silent
SAMD15ENSG00000100583ENST00000216471p.Q561*c.1681C>TSubstitution - Nonsense
TBX5ENSG00000089225ENST00000526441p.K159Kc.477G>ASubstitution - coding silent
INPP5BENSG00000204084ENST00000373026p.Q195*c.583C>TSubstitution - Nonsense
SRRM4ENSG00000139767ENST00000267260p.R480Rc.1440C>TSubstitution - coding silent
OTUD7BENSG00000163113ENST00000369135p.S108Sc.324C>TSubstitution - coding silent
TAS1R3ENSG00000169962ENST00000339381p.R177Pc.530G>CSubstitution - Missense
ATMENSG00000149311ENST00000278616p.T2335Ic.7004C>TSubstitution - Missense
ENST00000392849p.Q840*c.2518C>TSubstitution - Nonsense
RCN1ENSG00000049449ENST00000054950p.?c.449-4G>AUnknown
OGDHLENSG00000197444ENST00000374103p.L492Lc.1474C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.R1066Kc.3197G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.R518Cc.1552C>TSubstitution - Missense
INTS3ENSG00000143624ENST00000456435p.C779Cc.2337C>TSubstitution - coding silent
TSPAN9ENSG00000011105ENST00000011898p.C7Cc.21C>TSubstitution - coding silent
STMN1ENSG00000117632ENST00000374291p.H103Hc.309C>TSubstitution - coding silent
RUNX3ENSG00000020633ENST00000399916p.R19Hc.56G>ASubstitution - Missense
PLEKHN1ENSG00000187583ENST00000379409p.A607Ac.1821C>TSubstitution - coding silent
KIF16BENSG00000089177ENST00000354981p.T478Rc.1433C>GSubstitution - Missense
ENST00000300671p.V585Mc.1753G>ASubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.D71Dc.213C>TSubstitution - coding silent
MATN2ENSG00000132561ENST00000520016p.H740Hc.2220C>TSubstitution - coding silent
SLC13A2ENSG00000007216ENST00000314669p.L94Vc.280C>GSubstitution - Missense
PPEF2ENSG00000156194ENST00000286719p.D64Yc.190G>TSubstitution - Missense
POC1AENSG00000164087ENST00000296484p.D123Dc.369C>TSubstitution - coding silent
JPH1ENSG00000104369ENST00000342232p.V273Vc.819G>ASubstitution - coding silent
PLECENSG00000178209ENST00000436759p.R4390Hc.13169G>ASubstitution - Missense
ENST00000360660p.A46Tc.136G>ASubstitution - Missense
CHRNA1ENSG00000138435ENST00000261007p.V233Mc.697G>ASubstitution - Missense
PLA2G3ENSG00000100078ENST00000215885p.R455Wc.1363C>TSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.C4Yc.11G>ASubstitution - Missense
CIDECENSG00000187288ENST00000336832p.L76Lc.226C>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000381916p.A19Vc.56C>TSubstitution - Missense
LLGL2ENSG00000073350ENST00000392550p.R665Wc.1993C>TSubstitution - Missense
PDE5AENSG00000138735ENST00000354960p.T506Tc.1518G>ASubstitution - coding silent
NTSR2ENSG00000169006ENST00000306928p.A315Tc.943G>ASubstitution - Missense
DMDENSG00000198947ENST00000378723p.Q405Qc.1215G>ASubstitution - coding silent
PLXNA1ENSG00000114554ENST00000393409p.?c.4669+10C>TUnknown
WDR5BENSG00000196981ENST00000330689p.W68*c.203G>ASubstitution - Nonsense
CCDC114ENSG00000105479ENST00000315396p.L309Pc.926T>CSubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.G264Gc.792C>TSubstitution - coding silent
ZNF407ENSG00000215421ENST00000582337p.A440Tc.1318G>ASubstitution - Missense
VCANENSG00000038427ENST00000265077p.A2757Tc.8269G>ASubstitution - Missense
ENST00000225928p.V108Ic.322G>ASubstitution - Missense
STAT5AENSG00000126561ENST00000345506p.Q117*c.349C>TSubstitution - Nonsense
HTR4ENSG00000164270ENST00000354217p.T97Ic.290C>TSubstitution - Missense
MED23ENSG00000112282ENST00000368068p.N1089Nc.3267C>TSubstitution - coding silent
ENST00000319379p.L3250Lc.9750G>ASubstitution - coding silent
NBASENSG00000151779ENST00000281513p.?c.2019-1G>AUnknown
PKHD1ENSG00000170927ENST00000371117p.C4054Yc.12161G>ASubstitution - Missense
OR51L1ENSG00000176798ENST00000321543p.L224Lc.672T>CSubstitution - coding silent
ITGB3ENSG00000259207ENST00000559488p.V691Ic.2071G>ASubstitution - Missense
RC3H2ENSG00000056586ENST00000423239p.P631Pc.1893C>TSubstitution - coding silent
GPATCH4ENSG00000160818ENST00000438976p.A188Vc.563C>TSubstitution - Missense
MIIPENSG00000116691ENST00000235332p.P96Pc.288A>CSubstitution - coding silent
RASSF7ENSG00000099849ENST00000431809p.R105Cc.313C>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.R262Wc.784C>TSubstitution - Missense
MYOM3ENSG00000142661ENST00000329601p.?c.1233-3C>TUnknown
EVI5ENSG00000067208ENST00000543509p.V479Vc.1437C>TSubstitution - coding silent
AP1B1ENSG00000100280ENST00000415447p.Y933Yc.2799C>TSubstitution - coding silent
MPRIPENSG00000133030ENST00000395811p.L823Ic.2467C>ASubstitution - Missense
DYNLT1ENSG00000146425ENST00000367088p.S18Tc.53G>CSubstitution - Missense
UGT3A1ENSG00000145626ENST00000333811p.G49Gc.147C>TSubstitution - coding silent
SETXENSG00000107290ENST00000372169p.S2398Lc.7193C>TSubstitution - Missense
NUP153ENSG00000124789ENST00000537253p.M318Ic.954G>ASubstitution - Missense
ADAM11ENSG00000073670ENST00000200557p.R140Qc.419G>ASubstitution - Missense
MTSS1ENSG00000170873ENST00000378017p.T597Tc.1791C>TSubstitution - coding silent
CYTH3ENSG00000008256ENST00000396741p.P166Pc.498G>ASubstitution - coding silent
SRP68ENSG00000167881ENST00000307877p.Q409Qc.1227G>ASubstitution - coding silent
TAS1R2ENSG00000179002ENST00000375371p.V274Mc.820G>ASubstitution - Missense
ATP5BENSG00000110955ENST00000262030p.A224Tc.670G>ASubstitution - Missense
FASNENSG00000169710ENST00000306749p.A756Vc.2267C>TSubstitution - Missense
MRPL50ENSG00000136897ENST00000374865p.A59Pc.175G>CSubstitution - Missense
MAPTENSG00000186868ENST00000262410p.A485Tc.1453G>ASubstitution - Missense
SUPV3L1ENSG00000156502ENST00000359655p.A408Tc.1222G>ASubstitution - Missense
EIF4EENSG00000151247ENST00000450253p.P191Lc.572C>TSubstitution - Missense
MAP3K3ENSG00000198909ENST00000361733p.R608Hc.1823G>ASubstitution - Missense
RALGPS2ENSG00000116191ENST00000367635p.A365Tc.1093G>ASubstitution - Missense
SELPLGENSG00000110876ENST00000388962p.?c.391-4G>AUnknown
CYB5R2ENSG00000166394ENST00000299498p.S174Nc.521G>ASubstitution - Missense
NOL4ENSG00000101746ENST00000261592p.E34Kc.100G>ASubstitution - Missense
QRICH1ENSG00000198218ENST00000395443p.V683Ic.2047G>ASubstitution - Missense
VLDLRENSG00000147852ENST00000382100p.T530Ic.1589C>TSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.T293Ic.878C>TSubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.L1322Mc.3964C>ASubstitution - Missense
SMARCA5ENSG00000153147ENST00000283131p.R753Hc.2258G>ASubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.T1173Mc.3518C>TSubstitution - Missense
ALG11ENSG00000253710ENST00000521508p.A74Gc.221C>GSubstitution - Missense
VPS18ENSG00000104142ENST00000220509p.C421Yc.1262G>ASubstitution - Missense
PTK7ENSG00000112655ENST00000230419p.L610Ic.1828C>ASubstitution - Missense
PAX5ENSG00000196092ENST00000358127p.R197Hc.590G>ASubstitution - Missense
NM_007332.1p.V331Mc.991G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.A3291Dc.9872C>ASubstitution - Missense
SH2D6ENSG00000152292ENST00000340326p.R72Cc.214C>TSubstitution - Missense
CASD1ENSG00000127995ENST00000297273p.M253Ic.759G>ASubstitution - Missense
MCTS1ENSG00000232119ENST00000371315p.E8Kc.22G>ASubstitution - Missense
CRELD1ENSG00000163703ENST00000383811p.S207Nc.620G>ASubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.R1011Wc.3031C>TSubstitution - Missense
KSR1ENSG00000141068ENST00000319524p.S406Yc.1217C>ASubstitution - Missense
ENST00000237536_v68p.S1112Nc.3335G>ASubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376441p.A146Tc.436G>ASubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.R1007Qc.3020G>ASubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.V276Ic.826G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.P1106Lc.3317C>TSubstitution - Missense
ZCCHC8ENSG00000033030ENST00000336229p.V483Ic.1447G>ASubstitution - Missense
ENST00000312881p.R586Hc.1757G>ASubstitution - Missense
MIER1ENSG00000198160ENST00000401041p.A154Vc.461C>TSubstitution - Missense
SV2BENSG00000185518ENST00000394232p.D57Dc.171T>CSubstitution - coding silent
MMP1ENSG00000196611ENST00000315274p.A286Vc.857C>TSubstitution - Missense
ABTB2ENSG00000166016ENST00000435224p.R438Rc.1314C>TSubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367135p.D510Ec.1530C>GSubstitution - Missense
MDM4ENSG00000198625ENST00000367182p.?c.287+10G>AUnknown
USP24ENSG00000162402ENST00000294383p.?c.6766-3C>TUnknown
SLC50A1ENSG00000169241ENST00000368404p.C133Cc.399C>TSubstitution - coding silent
NUTM1ENSG00000184507ENST00000333756p.Q953Qc.2859G>ASubstitution - coding silent
RBFOX1ENSG00000078328ENST00000550418p.K200Nc.600G>TSubstitution - Missense
PPP4R4ENSG00000119698ENST00000304338p.L334Fc.1002G>CSubstitution - Missense
PIGVENSG00000060642ENST00000374145p.H385Hc.1155C>TSubstitution - coding silent
PAQR5ENSG00000137819ENST00000395407p.L238Lc.714G>ASubstitution - coding silent
SNAPC2ENSG00000104976ENST00000221573p.T198Tc.594T>CSubstitution - coding silent
ENST00000356127p.S6501Nc.19502G>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000396592p.A210Pc.628G>CSubstitution - Missense
ASB15ENSG00000146809ENST00000451558p.R499Hc.1496G>ASubstitution - Missense
FAM83CENSG00000125998ENST00000374408p.P485Pc.1455T>CSubstitution - coding silent
C17orf70ENSG00000185504ENST00000327787p.D222Dc.666C>TSubstitution - coding silent
MAFGENSG00000197063ENST00000357736p.A147Vc.440C>TSubstitution - Missense
GSDMAENSG00000167914ENST00000301659p.L274Lc.820C>TSubstitution - coding silent
SYNJ1ENSG00000159082ENST00000433931p.A1046Vc.3137C>TSubstitution - Missense
SYNJ1ENSG00000159082ENST00000433931p.R106Wc.316C>TSubstitution - Missense
NM_003895.2p.R67Wc.199C>TSubstitution - Missense
RAB11FIP3ENSG00000090565ENST00000262305p.L474Lc.1420C>TSubstitution - coding silent
SRCIN1ENSG00000017373ENST00000264659p.R1010Pc.3029G>CSubstitution - Missense
ZNF696ENSG00000185730ENST00000330143p.G240Gc.720C>TSubstitution - coding silent
SCRT1ENSG00000170616ENST00000332135p.C224Yc.671G>ASubstitution - Missense
MICAL3ENSG00000243156ENST00000441493p.C1549Yc.4646G>ASubstitution - Missense
GATA6ENSG00000141448ENST00000269216p.A541Vc.1622C>TSubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.T795Ic.2384C>TSubstitution - Missense
GPIHBP1ENSG00000182851ENST00000330824p.R158Wc.472C>TSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.V48Ic.142G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.A2699Tc.8095G>ASubstitution - Missense
SLC35E4ENSG00000100036ENST00000343605p.A84fs*44c.251_254delCCCTDeletion - Frameshift
KIF19ENSG00000196169ENST00000389916p.Q230Qc.690G>ASubstitution - coding silent
ZNF543ENSG00000178229ENST00000321545p.S519Sc.1557C>TSubstitution - coding silent
ENST00000342345p.Q282*c.844C>TSubstitution - Nonsense
CARD11ENSG00000198286ENST00000396946p.T367Mc.1100C>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.?c.1526-7C>TUnknown
PDE5AENSG00000138735ENST00000264805p.T464Tc.1392G>ASubstitution - coding silent
CYP27C1ENSG00000186684ENST00000335247p.W116*c.347G>ASubstitution - Nonsense
WDR33ENSG00000136709ENST00000322313p.L433Lc.1299C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378707p.Q1013Qc.3039G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378677p.Q3469Qc.10407G>ASubstitution - coding silent
PSD4ENSG00000125637ENST00000245796p.L995Lc.2985G>ASubstitution - coding silent
DBF4ENSG00000006634ENST00000265728p.?c.219+4A>GUnknown
GREB1ENSG00000196208ENST00000381486p.Q1148Qc.3444G>ASubstitution - coding silent
ADPRHENSG00000144843ENST00000357003p.Y279Yc.837C>TSubstitution - coding silent
CCDC114ENSG00000105479ENST00000315396p.L516Pc.1547T>CSubstitution - Missense
CCDC114ENSG00000105479ENST00000315396p.V160Mc.478G>ASubstitution - Missense
ERCC1ENSG00000012061ENST00000013807p.A266Ac.798A>GSubstitution - coding silent
ITPR1ENSG00000150995ENST00000357086p.Q1115*c.3343C>TSubstitution - Nonsense
ENST00000357281p.E237Ec.711G>ASubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.E649Kc.1945G>ASubstitution - Missense
ENST00000359737p.Q67*c.199C>TSubstitution - Nonsense
NSMFENSG00000165802ENST00000371472p.?c.1125+10G>AUnknown
DNAJB7ENSG00000172404ENST00000307221p.A134Vc.401C>TSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.?c.4453-1G>TUnknown
ANKRD12ENSG00000101745ENST00000262126p.L300Lc.898C>TSubstitution - coding silent
RDH8ENSG00000080511ENST00000171214p.L162Lc.484C>TSubstitution - coding silent
ARHGEF33ENSG00000214694ENST00000398800p.L463Lc.1389G>ASubstitution - coding silent
RAPGEF1ENSG00000107263ENST00000372190p.Q918*c.2752C>TSubstitution - Nonsense
TTC7AENSG00000068724ENST00000319190p.?c.518-5C>TUnknown
PLEKHH3ENSG00000068137ENST00000293349p.T60Tc.180G>ASubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.A105Vc.314C>TSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.?c.1481-1G>TUnknown
ATP13A5ENSG00000187527ENST00000342358p.A955Tc.2863G>ASubstitution - Missense
DVL3ENSG00000161202ENST00000313143p.S564fs*120c.1680_1681ins47Insertion - Frameshift
STK40ENSG00000196182ENST00000373130p.H200Hc.600C>TSubstitution - coding silent
BCL9LENSG00000186174ENST00000334801p.Q840*c.2518C>TSubstitution - Nonsense
MECRENSG00000116353ENST00000263702p.Q202*c.604C>TSubstitution - Nonsense
ENST00000453185p.Q41*c.121C>TSubstitution - Nonsense
XXYLT1ENSG00000173950ENST00000437101p.L43Lc.129G>ASubstitution - coding silent
MYH10ENSG00000133026ENST00000396239p.C122Yc.365G>ASubstitution - Missense
KIAA0226ENSG00000145016ENST00000389665p.S399Nc.1196G>ASubstitution - Missense
TRPC1ENSG00000144935ENST00000476941p.Q338*c.1012C>TSubstitution - Nonsense
PLXND1ENSG00000004399ENST00000393239p.A1033Tc.3097G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.L5584Lc.16752G>ASubstitution - coding silent
PTENENSG00000171862ENST00000371953p.R233*c.697C>TSubstitution - Nonsense
MYO7AENSG00000137474ENST00000409709p.R430Hc.1289G>ASubstitution - Missense
BBXENSG00000114439ENST00000415149p.L195Fc.583C>TSubstitution - Missense
ENSG00000143674ENST00000366624p.A305Tc.913G>ASubstitution - Missense
PRR3ENSG00000204576ENST00000376560p.R99Hc.296G>ASubstitution - Missense
KANSL2ENSG00000139620ENST00000420613p.M196Ic.588G>ASubstitution - Missense
IGSF8ENSG00000162729ENST00000368086p.S490Nc.1469G>ASubstitution - Missense
ENST00000321016_v61p.M690Ic.2070G>ASubstitution - Missense
ENST00000316347p.R347Cc.1039C>TSubstitution - Missense
ZFP14ENSG00000142065ENST00000270001p.T468Tc.1404C>TSubstitution - coding silent
SESN3ENSG00000149212ENST00000536441p.L72Qc.215T>ASubstitution - Missense
ENST00000299218p.A468Vc.1403C>TSubstitution - Missense
LARP1BENSG00000138709ENST00000427266p.S369Lc.1106C>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.A698Tc.2092G>ASubstitution - Missense
ZNF23ENSG00000167377ENST00000357254p.Q381Hc.1143G>CSubstitution - Missense
C12orf10ENSG00000139637ENST00000267103p.A266Vc.797C>TSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.V883Mc.2647G>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.A661Tc.1981G>ASubstitution - Missense
GBF1ENSG00000107862ENST00000369983p.L1459Fc.4375C>TSubstitution - Missense
C6orf106ENSG00000196821ENST00000374023p.G166Rc.496G>ASubstitution - Missense
NM_006218.1p.D843Ec.2529C>GSubstitution - Missense
CAMTA2ENSG00000108509ENST00000348066p.G675Dc.2024G>ASubstitution - Missense
WDR5ENSG00000196363ENST00000358625p.A201Tc.601G>ASubstitution - Missense
PSMD3ENSG00000108344ENST00000264639p.R443Wc.1327C>TSubstitution - Missense
ZFP41ENSG00000181638ENST00000330701p.G121Vc.362G>TSubstitution - Missense
WDR82ENSG00000164091ENST00000296490p.A236Tc.706G>ASubstitution - Missense
NUP153ENSG00000124789ENST00000262077p.M318Ic.954G>ASubstitution - Missense
RBM4BENSG00000173914ENST00000310046p.T14Ic.41C>TSubstitution - Missense
PIGXENSG00000163964ENST00000314118p.L183Vc.547C>GSubstitution - Missense
FAM73AENSG00000180488ENST00000370791p.T342Ic.1025C>TSubstitution - Missense
ECI1ENSG00000167969ENST00000301729p.S234Nc.701G>ASubstitution - Missense
ATCAYENSG00000167654ENST00000450849p.R331Kc.992G>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.R1701Hc.5102G>ASubstitution - Missense
FAM161AENSG00000170264ENST00000404929p.V515Mc.1543G>ASubstitution - Missense
PRKCZENSG00000067606ENST00000378567p.?c.1197+4C>TUnknown
HECTD4ENSG00000173064ENST00000377560p.G1844Rc.5530G>ASubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.S854Sc.2562G>ASubstitution - coding silent
ESAMENSG00000149564ENST00000442070p.S115fs*5c.342_343delCADeletion - Frameshift
PYHIN1ENSG00000163564ENST00000392254p.T334Mc.1001C>TSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.H1468Hc.4404C>TSubstitution - coding silent
HALENSG00000084110ENST00000261208p.L582Pc.1745T>CSubstitution - Missense
VWCEENSG00000167992ENST00000335613p.L650Lc.1950G>ASubstitution - coding silent
RIN1ENSG00000174791ENST00000311320p.F241Fc.723C>TSubstitution - coding silent
STK40ENSG00000196182ENST00000373129p.H195Hc.585C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.M2032Ic.6096G>ASubstitution - Missense
FUT4ENSG00000196371ENST00000358752p.R291Rc.873C>TSubstitution - coding silent
AFAP1L2ENSG00000169129ENST00000304129p.?c.1958-4G>AUnknown
SFXN2ENSG00000156398ENST00000369893p.A171Vc.512C>TSubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.A652Tc.1954G>ASubstitution - Missense
COL13A1ENSG00000197467ENST00000398969p.V229Lc.685G>CSubstitution - Missense
ENST00000319957p.L888Lc.2662C>TSubstitution - coding silent
TDRD9ENSG00000156414ENST00000409874p.Q642Qc.1926G>ASubstitution - coding silent
HNRNPCENSG00000092199ENST00000320084p.N91Nc.273C>TSubstitution - coding silent
CHST15ENSG00000182022ENST00000346248p.R518Qc.1553G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.T2377Tc.7131C>TSubstitution - coding silent
XM_371214.3p.Q19Qc.57G>ASubstitution - coding silent
ARHGAP30ENSG00000186517ENST00000368016p.V204Mc.610G>ASubstitution - Missense
USH1CENSG00000006611ENST00000005226p.C224Cc.672C>TSubstitution - coding silent
CASQ1ENSG00000143318ENST00000368078p.L153Lc.459G>ASubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.G2101Gc.6303C>TSubstitution - coding silent
TTC18ENSG00000156042ENST00000355577p.?c.2231-3C>TUnknown
FLRT1ENSG00000126500ENST00000246841p.S603Lc.1808C>TSubstitution - Missense
ABCD4ENSG00000119688ENST00000356924p.Q254*c.760C>TSubstitution - Nonsense
RNF34ENSG00000170633ENST00000392465p.L124Lc.372G>ASubstitution - coding silent
SDSENSG00000135094ENST00000257549p.A275Vc.824C>TSubstitution - Missense
MAGI3ENSG00000081026ENST00000307546p.S234Sc.702C>TSubstitution - coding silent
ABCC1ENSG00000103222ENST00000399410p.T489Tc.1467G>ASubstitution - coding silent
GALNT16ENSG00000100626ENST00000337827p.?c.690+9C>TUnknown
LRRC10ENSG00000198812ENST00000361484p.C141Yc.422G>ASubstitution - Missense
TEX35ENSG00000240021ENST00000258298p.?c.514-1G>AUnknown
ENST00000313929p.D354Nc.1060G>ASubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.G811Gc.2433C>TSubstitution - coding silent
ATP5SENSG00000125375ENST00000358473p.D70Dc.210C>TSubstitution - coding silent
PYGLENSG00000100504ENST00000216392p.F472Fc.1416C>TSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.S1513Sc.4539G>ASubstitution - coding silent
TTNENSG00000155657ENST00000360870p.H4044Yc.12130C>TSubstitution - Missense
SLC25A23ENSG00000125648ENST00000301454p.G390Sc.1168G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374416p.H585Hc.1755T>CSubstitution - coding silent
NM_032946.1p.R113Wc.337C>TSubstitution - Missense
SLMAPENSG00000163681ENST00000295951p.?c.520-2A>GUnknown
MMP16ENSG00000156103ENST00000286614p.Q604*c.1810C>TSubstitution - Nonsense
ITIH1ENSG00000055957ENST00000273283p.H891Hc.2673C>TSubstitution - coding silent
TMPRSS11FENSG00000198092ENST00000356291p.Q232Qc.696G>ASubstitution - coding silent
SLC38A10ENSG00000157637ENST00000288439p.V465Vc.1395G>ASubstitution - coding silent
PARP10ENSG00000178685ENST00000313028p.K941Kc.2823G>ASubstitution - coding silent
GRINAENSG00000178719ENST00000395068p.Q123*c.367C>TSubstitution - Nonsense
SU_Erk7p.V323Mc.967G>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.E3577Ec.10731G>ASubstitution - coding silent
ENST00000262719_v68p.L1133Lc.3397C>TSubstitution - coding silent
ENST00000570743p.P832Rc.2495C>GSubstitution - Missense
KCND1ENSG00000102057ENST00000218176p.I391Ic.1173C>ASubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.S663Sc.1989C>TSubstitution - coding silent
ZDHHC1ENSG00000159714ENST00000348579p.L191Lc.573G>ASubstitution - coding silent
GFOD2ENSG00000141098ENST00000268797p.L376Lc.1128G>ASubstitution - coding silent
LPAENSG00000198670ENST00000316300p.Y1939Yc.5817C>TSubstitution - coding silent
IL20RAENSG00000016402ENST00000367746p.S85Lc.254C>TSubstitution - Missense
ATP6V1B1ENSG00000116039ENST00000234396p.L51Lc.151C>TSubstitution - coding silent
MEIS3ENSG00000105419ENST00000561293p.?c.447+8C>TUnknown
POPDC2ENSG00000121577ENST00000264231p.R325Qc.974G>ASubstitution - Missense
ZDHHC11ENSG00000188818ENST00000283441p.G180Sc.538G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.Y338Yc.1014C>TSubstitution - coding silent
TBC1D32ENSG00000146350ENST00000398212p.R293fs*5c.874_875insTInsertion - Frameshift
GPRC6AENSG00000173612ENST00000310357p.T785Ic.2354C>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.P638Pc.1914C>GSubstitution - coding silent
CLPTM1LENSG00000049656ENST00000320895p.?c.1198-4G>AUnknown
OTOL1ENSG00000182447ENST00000327928p.W2Cc.6G>TSubstitution - Missense
PDE6AENSG00000132915ENST00000255266p.R236Qc.707G>ASubstitution - Missense
MOXD1ENSG00000079931ENST00000336749p.L540Lc.1618C>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.?c.746+6C>TUnknown
EGFRENSG00000146648ENST00000344576p.C232Cc.696C>TSubstitution - coding silent
ZNF398ENSG00000197024ENST00000475153p.C572Yc.1715G>ASubstitution - Missense
MAGEA12ENSG00000213401ENST00000357916p.S155Sc.465C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.R2257Qc.6770G>ASubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.L781Mc.2341C>ASubstitution - Missense
ECE2ENSG00000145194ENST00000402825p.R775Hc.2324G>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.R1701Hc.5102G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000458213p.M540Tc.1619T>CSubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.?c.2170-4G>AUnknown
ACOT7ENSG00000097021ENST00000377855p.V275Mc.823G>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.Q246Qc.738G>ASubstitution - coding silent
KANSL2ENSG00000139620ENST00000357861p.M1Ic.3G>ASubstitution - Missense
OR8I2ENSG00000172154ENST00000302124p.V146Ac.437T>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.?c.3234+8G>AUnknown
PLCZ1ENSG00000139151ENST00000541695p.Q234Qc.702G>ASubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000236925p.L1086Lc.3258G>ASubstitution - coding silent
MDM4ENSG00000198625ENST00000367180p.?c.287+10G>AUnknown
CD55ENSG00000196352ENST00000367065p.Y133*c.399C>GSubstitution - Nonsense
ANKFY1ENSG00000185722ENST00000433651p.R266Qc.797G>ASubstitution - Missense
ENST00000310397_v70p.R1149Rc.3447C>TSubstitution - coding silent
POPDC2ENSG00000121577ENST00000468801p.R325Qc.974G>ASubstitution - Missense
SRGAP3ENSG00000196220ENST00000360413p.Y731Yc.2193C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.R4363Hc.13088G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.G2866Sc.8596G>ASubstitution - Missense
C7orf55-LUC7L2ENSG00000146963ENST00000263545p.R313Cc.937C>TSubstitution - Missense
CCDC40ENSG00000141519ENST00000374877p.A552Vc.1655C>TSubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.V498Ic.1492G>ASubstitution - Missense
APC2ENSG00000115266ENST00000233607p.R543Wc.1627C>TSubstitution - Missense
KIF18BENSG00000186185ENST00000339151p.G781Dc.2342G>ASubstitution - Missense
METTL9ENSG00000197006ENST00000358154p.S207Nc.620G>ASubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.E864Dc.2592G>TSubstitution - Missense
ENST00000357329p.A1960Vc.5879C>TSubstitution - Missense
TBC1D31ENSG00000156787ENST00000287380p.A949Vc.2846C>TSubstitution - Missense
PLOD1ENSG00000083444ENST00000196061p.A640Tc.1918G>ASubstitution - Missense
ABCA1ENSG00000165029ENST00000374736p.R1068Hc.3203G>ASubstitution - Missense
OXA1LENSG00000155463ENST00000285848p.S479Nc.1436G>ASubstitution - Missense
BACE2ENSG00000182240ENST00000330333p.R139Hc.416G>ASubstitution - Missense
DYNC1LI2ENSG00000135720ENST00000258198p.N316Sc.947A>GSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.C312Yc.935G>ASubstitution - Missense
CRTC3ENSG00000140577ENST00000268184p.A469Tc.1405G>ASubstitution - Missense
ACBD4ENSG00000181513ENST00000431281p.C232Cc.696C>TSubstitution - coding silent
NM_012197.2p.A725Vc.2174C>TSubstitution - Missense
POC1BENSG00000139323ENST00000313546p.D382Ec.1146C>GSubstitution - Missense
MRPS23ENSG00000181610ENST00000313608p.C96Yc.287G>ASubstitution - Missense
PLD5ENSG00000180287ENST00000366545p.T261Kc.782C>ASubstitution - Missense
PNPLA6ENSG00000032444ENST00000221249p.R469Wc.1405C>TSubstitution - Missense
RAD54L2ENSG00000164080ENST00000409535p.A1424Vc.4271C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.V2183Mc.6547G>ASubstitution - Missense
LRIF1ENSG00000121931ENST00000369763p.T109Ic.326C>TSubstitution - Missense
CICENSG00000079432ENST00000160740p.D1440Nc.4318G>ASubstitution - Missense
SF3A1ENSG00000099995ENST00000215793p.A270Vc.809C>TSubstitution - Missense
ACOT4ENSG00000177465ENST00000326303p.G167Rc.499G>ASubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000279907p.R1329Gc.3985C>GSubstitution - Missense
UPF1ENSG00000005007ENST00000262803p.T537Mc.1610C>TSubstitution - Missense
GPS1ENSG00000169727ENST00000355130p.M130Ic.390G>ASubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.P1400Lc.4199C>TSubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.R476Cc.1426C>TSubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.C1274Yc.3821G>ASubstitution - Missense
AHSPENSG00000169877ENST00000302312p.P30Hc.89C>ASubstitution - Missense
SLC37A2ENSG00000134955ENST00000308074p.H504Hc.1512C>TSubstitution - coding silent
CAMK2GENSG00000148660ENST00000322680p.T37Tc.111G>ASubstitution - coding silent
AMHR2ENSG00000135409ENST00000257863p.P389Lc.1166C>TSubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.?c.1771-3C>TUnknown
EIF4G3ENSG00000075151ENST00000374937p.Q90fs*43c.268delCDeletion - Frameshift
ALX1ENSG00000180318ENST00000316824p.T258Ic.773C>TSubstitution - Missense
HARBI1ENSG00000180423ENST00000326737p.V202Lc.604G>CSubstitution - Missense
IL18BPENSG00000137496ENST00000337131p.S85Sc.255C>TSubstitution - coding silent
EDRF1ENSG00000107938ENST00000337623p.G108Gc.324C>TSubstitution - coding silent
EXPH5ENSG00000110723ENST00000265843p.E1539*c.4615G>TSubstitution - Nonsense
KIAA1324ENSG00000116299ENST00000369939p.L955Lc.2865G>ASubstitution - coding silent
PCF11ENSG00000165494ENST00000298281p.D748Dc.2244C>TSubstitution - coding silent
PRCPENSG00000137509ENST00000393399p.Q516Qc.1548G>ASubstitution - coding silent
FAM69AENSG00000154511ENST00000370310p.*429Qc.1285T>CNonstop extension
FSIP1ENSG00000150667ENST00000350221p.D512Dc.1536C>TSubstitution - coding silent
CCDC88CENSG00000015133ENST00000331194p.S37Sc.111G>ASubstitution - coding silent
CILPENSG00000138615ENST00000261883p.R506Rc.1518C>GSubstitution - coding silent
BFSP1ENSG00000125864ENST00000377873p.S487Sc.1461C>ASubstitution - coding silent
FMN1ENSG00000248905ENST00000320930p.P609Sc.1825C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000418180p.Q123*c.367C>TSubstitution - Nonsense
TTNENSG00000155657ENST00000342175p.A2996Vc.8987C>TSubstitution - Missense
WNT16ENSG00000002745ENST00000361301p.L21Lc.63A>GSubstitution - coding silent
LILRB1ENSG00000104972ENST00000396331p.H301Yc.901C>TSubstitution - Missense
FLCNENSG00000154803ENST00000285071p.A60Ac.180G>ASubstitution - coding silent
BMP1ENSG00000168487ENST00000306349p.A390Ac.1170G>ASubstitution - coding silent
CEP41ENSG00000106477ENST00000223208p.P262Pc.786G>ASubstitution - coding silent
ALDOCENSG00000109107ENST00000395321p.A33Tc.97G>ASubstitution - Missense
FZD3ENSG00000104290ENST00000537916p.P188Hc.563C>ASubstitution - Missense
FLNBENSG00000136068ENST00000295956p.L40Lc.120G>ASubstitution - coding silent
FAM120BENSG00000112584ENST00000476287p.S194Sc.582C>TSubstitution - coding silent
P2RX1ENSG00000108405ENST00000225538p.H213Hc.639C>TSubstitution - coding silent
NKD1ENSG00000140807ENST00000268459p.S99Sc.297C>TSubstitution - coding silent
SOWAHBENSG00000186212ENST00000334306p.V660Dc.1979T>ASubstitution - Missense
OXTRENSG00000180914ENST00000316793p.M133Ic.399G>ASubstitution - Missense
ZBTB14ENSG00000198081ENST00000357006p.A436Tc.1306G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.P2722Pc.8166G>ASubstitution - coding silent
SU_Erk7p.Q55Qc.165G>ASubstitution - coding silent
ARHGEF10ENSG00000104728ENST00000349830p.M1177Vc.3529A>GSubstitution - Missense
NM_014629.1p.M954Vc.2860A>GSubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.P3554Pc.10662C>TSubstitution - coding silent
OR6B2ENSG00000182083ENST00000402971p.L207Lc.621G>ASubstitution - coding silent
UBE2WENSG00000104343ENST00000419880p.N147Nc.441C>TSubstitution - coding silent
LLGL2ENSG00000073350ENST00000167462p.R665Wc.1993C>TSubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.P524Pc.1572G>ASubstitution - coding silent
ENST00000354247p.C241Yc.722G>ASubstitution - Missense
FAM188BENSG00000106125ENST00000265299p.Q353Qc.1059G>ASubstitution - coding silent
IQCEENSG00000106012ENST00000402050p.Q423*c.1267C>TSubstitution - Nonsense
C2orf42ENSG00000115998ENST00000264434p.S237Sc.711C>TSubstitution - coding silent
GPR17ENSG00000144230ENST00000393018p.R171Hc.512G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000395547p.?c.2433+1G>AUnknown
ENST00000396734p.?c.940-1G>AUnknown
ERCC1ENSG00000012061ENST00000300853p.A272Sc.814G>TSubstitution - Missense
COL28A1ENSG00000215018ENST00000399429p.?c.2360-9A>GUnknown
CYP2W1ENSG00000073067ENST00000308919p.L148Lc.444G>ASubstitution - coding silent
POM121ENSG00000196313ENST00000434423p.L134Lc.402G>ASubstitution - coding silent
SLC12A9ENSG00000146828ENST00000354161p.S575Sc.1725G>ASubstitution - coding silent
FOXP4ENSG00000137166ENST00000373060p.V245Vc.735C>TSubstitution - coding silent
NM_003866.1p.V605Mc.1813G>ASubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.E829Ec.2487A>GSubstitution - coding silent
SYMPKENSG00000125755ENST00000245934p.Q388*c.1162C>TSubstitution - Nonsense
NCAPH2ENSG00000025770ENST00000299821p.Q349*c.1045C>TSubstitution - Nonsense
FSD1LENSG00000106701ENST00000481272p.P197Hc.590C>ASubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.R92Wc.274C>TSubstitution - Missense
LRRIQ4ENSG00000188306ENST00000340806p.S234Nc.701G>ASubstitution - Missense
TCOF1ENSG00000070814ENST00000504761p.A399Vc.1196C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000418800p.Q712*c.2134C>TSubstitution - Nonsense
ENST00000319379p.V4191Ac.12572T>CSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.K1420Kc.4260G>ASubstitution - coding silent
MOSPD2ENSG00000130150ENST00000380492p.N433Nc.1299C>TSubstitution - coding silent
CYP2F1ENSG00000197446ENST00000331105p.A155Vc.464C>TSubstitution - Missense
SCNN1BENSG00000168447ENST00000307331p.V130Ic.388G>ASubstitution - Missense
ENSG00000265629ENST00000581929p.C107Rc.319T>CSubstitution - Missense
ENST00000335106p.K932Kc.2796G>ASubstitution - coding silent
SERPINB6ENSG00000124570ENST00000380520p.Q70Qc.210G>ASubstitution - coding silent
ENST00000402998p.?c.2162-1G>AUnknown
EGFRENSG00000146648ENST00000275493p.C232Cc.696C>TSubstitution - coding silent
ANKRD24ENSG00000089847ENST00000318934p.?c.538-1G>AUnknown
VPS41ENSG00000006715ENST00000310301p.D573Dc.1719C>TSubstitution - coding silent
SAMD4BENSG00000179134ENST00000314471p.Q573Qc.1719G>ASubstitution - coding silent
TOP1ENSG00000198900ENST00000361337p.T258Mc.773C>TSubstitution - Missense
SLC35C2ENSG00000080189ENST00000372227p.?c.121-3C>TUnknown
TPM1ENSG00000140416ENST00000403994p.A22Vc.65C>TSubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.H818Hc.2454C>TSubstitution - coding silent
TNFRSF13BENSG00000240505ENST00000437538p.Q75Qc.225G>ASubstitution - coding silent
XAF1ENSG00000132530ENST00000441631p.M169Ic.507G>ASubstitution - Missense
MAP3K3ENSG00000198909ENST00000361357p.R639Hc.1916G>ASubstitution - Missense
PLB1ENSG00000163803ENST00000329020p.?c.880-3C>TUnknown
FAM219AENSG00000164970ENST00000379084p.T95Mc.284C>TSubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356253p.?c.1931-4G>AUnknown
ZFATENSG00000066827ENST00000377838p.H30Hc.90C>TSubstitution - coding silent
RPS6KB1ENSG00000108443ENST00000225577p.P88Lc.263C>TSubstitution - Missense
TAX1BP1ENSG00000106052ENST00000396319p.C541Yc.1622G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R1206Qc.3617G>ASubstitution - Missense
GCFC2ENSG00000005436ENST00000321027p.R241Gc.721A>GSubstitution - Missense
ABCB8ENSG00000197150ENST00000358849p.C260Yc.779G>ASubstitution - Missense
AMFRENSG00000159461ENST00000290649p.C378Yc.1133G>ASubstitution - Missense
SEC31BENSG00000075826ENST00000370345p.T907Ic.2720C>TSubstitution - Missense
TUBA1AENSG00000167552ENST00000301071p.R402Hc.1205G>ASubstitution - Missense
NDFIP2ENSG00000102471ENST00000218652p.C249Yc.746G>ASubstitution - Missense
FAM83GENSG00000188522ENST00000345041p.V14Mc.40G>ASubstitution - Missense
WAPALENSG00000062650ENST00000298767p.A961Tc.2881G>ASubstitution - Missense
DHX8ENSG00000067596ENST00000262415p.M1011Ic.3033G>ASubstitution - Missense
ARAP3ENSG00000120318ENST00000239440p.C835Yc.2504G>ASubstitution - Missense
TWISTNBENSG00000105849ENST00000222567p.I91Vc.271A>GSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.V1469Ic.4405G>ASubstitution - Missense
ZNF207ENSG00000010244ENST00000321233p.H425Pc.1274A>CSubstitution - Missense
ETAA1ENSG00000143971ENST00000272342p.N669Dc.2005A>GSubstitution - Missense
ABCG1ENSG00000160179ENST00000398457p.C273Yc.818G>ASubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.R153Wc.457C>TSubstitution - Missense
PVRENSG00000073008ENST00000425690p.C123Yc.368G>ASubstitution - Missense
TAF5LENSG00000135801ENST00000258281p.S359Fc.1076C>TSubstitution - Missense
NM_000933.2p.E12Kc.34G>ASubstitution - Missense
CCDC90BENSG00000137500ENST00000529689p.A86Tc.256G>ASubstitution - Missense
WDR4ENSG00000160193ENST00000398208p.V332Mc.994G>ASubstitution - Missense
RMDN2ENSG00000115841ENST00000406384p.A138Tc.412G>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000296869p.R427Qc.1280G>ASubstitution - Missense
RSRC2ENSG00000111011ENST00000331738p.R152Wc.454C>TSubstitution - Missense
ENST00000357909p.D359Nc.1075G>ASubstitution - Missense
MAN2C1ENSG00000140400ENST00000267978p.S770Gc.2308A>GSubstitution - Missense
SUV39H1ENSG00000101945ENST00000376687p.S29Pc.85T>CSubstitution - Missense
GPR137ENSG00000173264ENST00000313074p.D180Hc.538G>CSubstitution - Missense
CHPFENSG00000123989ENST00000243776p.A571Vc.1712C>TSubstitution - Missense
CCDC81ENSG00000149201ENST00000445632p.A592Vc.1775C>TSubstitution - Missense
OGDHENSG00000105953ENST00000222673p.Y723Yc.2169C>TSubstitution - coding silent
ZNF488ENSG00000165388ENST00000395702p.S37Sc.111C>TSubstitution - coding silent
CYP1A1ENSG00000140465ENST00000395048p.L254Lc.762G>ASubstitution - coding silent
GPR182ENSG00000166856ENST00000300098p.Y131Yc.393C>TSubstitution - coding silent
RIN1ENSG00000174791ENST00000424433p.R90Wc.268C>TSubstitution - Missense
FUOMENSG00000148803ENST00000278025p.T96Mc.287C>TSubstitution - Missense
LUMENSG00000139329ENST00000266718p.P323Sc.967C>TSubstitution - Missense
IQCCENSG00000160051ENST00000291358p.R207Rc.621C>TSubstitution - coding silent
TCHHL1ENSG00000182898ENST00000368806p.A76Vc.227C>TSubstitution - Missense
CLIC5ENSG00000112782ENST00000185206p.T229Tc.687G>ASubstitution - coding silent
BICC1ENSG00000122870ENST00000373886p.S447Lc.1340C>TSubstitution - Missense
ENST00000426033p.?c.2769-6G>AUnknown
PRAMEF1ENSG00000116721ENST00000332296p.A135Tc.403G>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.A135Tc.403G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R515Rc.1545C>TSubstitution - coding silent
PCF11ENSG00000165494ENST00000298281p.D847Dc.2541C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000395896p.H814Rc.2441A>GSubstitution - Missense
PTPN21ENSG00000070778ENST00000328736p.?c.3397-1G>AUnknown
CPOENSG00000144410ENST00000272852p.S282*c.845C>ASubstitution - Nonsense
INSRENSG00000171105ENST00000302850p.T620Tc.1860C>TSubstitution - coding silent
CHD7ENSG00000171316ENST00000423902p.R758Cc.2272C>TSubstitution - Missense
PIKFYVEENSG00000115020ENST00000264380p.A901Gc.2702C>GSubstitution - Missense
NM_003319p.A2996Vc.8987C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S6501Nc.19502G>ASubstitution - Missense
SLC4A11ENSG00000088836ENST00000380056p.T708Tc.2124A>GSubstitution - coding silent
DPY19L3ENSG00000178904ENST00000342179p.S448Sc.1344C>TSubstitution - coding silent
LILRB1ENSG00000104972ENST00000396331p.A269Tc.805G>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.I1022Vc.3064A>GSubstitution - Missense
ALDH1B1ENSG00000137124ENST00000377698p.V327Mc.979G>ASubstitution - Missense
CCDC40ENSG00000141519ENST00000397545p.?c.2620-4G>AUnknown
CPNE3ENSG00000085719ENST00000198765p.?c.388-5C>TUnknown
AMFRENSG00000159461ENST00000290649p.T450Tc.1350G>ASubstitution - coding silent
KRTAP12-3ENSG00000205439ENST00000397907p.S33Sc.99C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.G582Gc.1746C>TSubstitution - coding silent
ENST00000273600p.H2129Qc.6387C>GSubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.L528Lc.1584G>ASubstitution - coding silent
WDR82ENSG00000164091ENST00000296490p.?c.544-4G>AUnknown
ZZEF1ENSG00000074755ENST00000381638p.?c.7506-3C>TUnknown
ASAH1ENSG00000104763ENST00000381733p.N381Nc.1143C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.R4363Hc.13088G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.T2391Mc.7172C>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.L1033Lc.3099G>ASubstitution - coding silent
FAM65BENSG00000111913ENST00000378023p.Q493*c.1477C>TSubstitution - Nonsense
MICAL3ENSG00000243156ENST00000441493p.R1499Wc.4495C>TSubstitution - Missense
KIF3CENSG00000084731ENST00000264712p.L461Lc.1383G>ASubstitution - coding silent
PASKENSG00000115687ENST00000234040p.Q732Qc.2196G>ASubstitution - coding silent
EFR3BENSG00000084710ENST00000264719p.Q591*c.1771C>TSubstitution - Nonsense
EFHBENSG00000163576ENST00000295824p.S46Rc.138C>GSubstitution - Missense
GAGE10ENSG00000215274ENST00000407599p.E29Kc.85G>ASubstitution - Missense
REEP5ENSG00000129625ENST00000379638p.V179Vc.537G>ASubstitution - coding silent
TTC21AENSG00000168026ENST00000431162p.?c.158-3C>TUnknown
SCN11AENSG00000168356ENST00000302328p.M1674Vc.5020A>GSubstitution - Missense
HDAC6ENSG00000094631ENST00000334136p.C128Cc.384C>TSubstitution - coding silent
CDC42EP4ENSG00000179604ENST00000335793p.L31Lc.91C>TSubstitution - coding silent
LPAENSG00000198670ENST00000316300p.T1946Sc.5837C>GSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.K4139Nc.12417G>TSubstitution - Missense
C2orf78ENSG00000187833ENST00000409561p.Q282*c.844C>TSubstitution - Nonsense
ELMOD3ENSG00000115459ENST00000409890p.Q100*c.298C>TSubstitution - Nonsense
IGF2RENSG00000197081ENST00000356956p.W999*c.2996G>ASubstitution - Nonsense
ENST00000542270p.?c.365+1G>AUnknown
TRIB2ENSG00000071575ENST00000155926p.G44Sc.130G>ASubstitution - Missense
CCDC114ENSG00000105479ENST00000315396p.V367Mc.1099G>ASubstitution - Missense
ZG16ENSG00000174992ENST00000400752p.R116Cc.346C>TSubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.G83Gc.249C>TSubstitution - coding silent
MAGED2ENSG00000102316ENST00000375068p.K261Kc.783G>ASubstitution - coding silent
SUN2ENSG00000100242ENST00000405510p.L331Lc.993G>ASubstitution - coding silent
CC2D2AENSG00000048342ENST00000389652p.A398Vc.1193C>TSubstitution - Missense
DGKEENSG00000153933ENST00000284061p.?c.625-3_625-2insTUnknown
PLEKHH2ENSG00000152527ENST00000282406p.T505Tc.1515G>ASubstitution - coding silent
SLC22A4ENSG00000197208ENST00000200652p.F158Fc.474C>TSubstitution - coding silent
PCBD2ENSG00000132570ENST00000254908p.W93*c.278G>ASubstitution - Nonsense
DDCENSG00000132437ENST00000357936p.P35Pc.105C>GSubstitution - coding silent
RGS22ENSG00000132554ENST00000360863p.V108Ic.322G>ASubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.E406Dc.1218A>CSubstitution - Missense
ENST00000316490p.A1197Tc.3589G>ASubstitution - Missense
TCOF1ENSG00000070814ENST00000323668p.A322Vc.965C>TSubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.A57Vc.170C>TSubstitution - Missense
METENSG00000105976ENST00000318493p.L1230Lc.3688C>TSubstitution - coding silent
TMPRSS6ENSG00000187045ENST00000381792p.C480Cc.1440C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000354713p.H677Yc.2029C>TSubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.K853Kc.2559G>ASubstitution - coding silent
ENST00000395333p.G121Gc.363C>TSubstitution - coding silent
BMP1ENSG00000168487ENST00000397816p.A390Ac.1170G>ASubstitution - coding silent
CLIC5ENSG00000112782ENST00000339561p.T70Tc.210G>ASubstitution - coding silent
SLC16A7ENSG00000118596ENST00000261187p.S56Cc.166A>TSubstitution - Missense
SH2B1ENSG00000178188ENST00000337120p.S420Nc.1259G>ASubstitution - Missense
PRDM15ENSG00000141956ENST00000269844p.R634Kc.1901G>ASubstitution - Missense
KLHL22ENSG00000099910ENST00000328879p.R508Kc.1523G>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.R1957Hc.5870G>ASubstitution - Missense
CHD3ENSG00000170004ENST00000330494p.A1877Vc.5630C>TSubstitution - Missense
SLC2A3ENSG00000059804ENST00000075120p.A17Tc.49G>ASubstitution - Missense
NM_005158p.A407Tc.1219G>ASubstitution - Missense
MRE11AENSG00000020922ENST00000323977p.A551Tc.1651G>ASubstitution - Missense
PLCL2ENSG00000154822ENST00000418129p.R371Hc.1112G>ASubstitution - Missense
RP1ENSG00000104237ENST00000220676p.G706Cc.2116G>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.P2902Rc.8705C>GSubstitution - Missense
AKAP1ENSG00000121057ENST00000337714p.R124Hc.371G>ASubstitution - Missense
GDI1ENSG00000203879ENST00000447750p.S213Nc.638G>ASubstitution - Missense
IL11RAENSG00000137070ENST00000555003p.D358Nc.1072G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.A43Vc.128C>TSubstitution - Missense
ZNF562ENSG00000171466ENST00000453372p.T270Ac.808A>GSubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.A1376Tc.4126G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.A2119Vc.6356C>TSubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.M381Ic.1143G>ASubstitution - Missense
GRIK5ENSG00000105737ENST00000301218p.R361Wc.1081C>TSubstitution - Missense
ENST00000450194p.V840Ac.2519T>CSubstitution - Missense
DMPKENSG00000104936ENST00000343373p.P331Lc.992C>TSubstitution - Missense
C14orf159ENSG00000133943ENST00000523816p.A441Sc.1321G>TSubstitution - Missense
CAMSAP3ENSG00000076826ENST00000446248p.A263Vc.788C>TSubstitution - Missense
CABLES2ENSG00000149679ENST00000279101p.G237Vc.710G>TSubstitution - Missense
NTMT1ENSG00000148335ENST00000372480p.P211Sc.631C>TSubstitution - Missense
GRIN2CENSG00000161509ENST00000293190p.A596Tc.1786G>ASubstitution - Missense
PCNXENSG00000100731ENST00000304743p.P321Hc.962C>ASubstitution - Missense
SCPEP1ENSG00000121064ENST00000262288p.V349Ic.1045G>ASubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.P219Lc.656C>TSubstitution - Missense
CNTNAP3ENSG00000106714ENST00000297668p.D816Dc.2448C>TSubstitution - coding silent
TATDN3ENSG00000203705ENST00000366974p.S150Ac.448T>GSubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.L127Lc.381T>CSubstitution - coding silent
LARP4BENSG00000107929ENST00000316157p.T163fs*8c.487_488insAInsertion - Frameshift
USH2AENSG00000042781ENST00000307340p.P4262Sc.12784C>TSubstitution - Missense
MTRENSG00000116984ENST00000366577p.R985Wc.2953C>TSubstitution - Missense
POC1BENSG00000139323ENST00000313546p.C149Cc.447T>CSubstitution - coding silent
NLRP10ENSG00000182261ENST00000328600p.A58Ec.173C>ASubstitution - Missense
NM_172217.1p.E984Kc.2950G>ASubstitution - Missense
KRT82ENSG00000161850ENST00000257974p.Q487Rc.1460A>GSubstitution - Missense
PEX10ENSG00000157911ENST00000288774p.P121Pc.363C>TSubstitution - coding silent
TCIRG1ENSG00000110719ENST00000265686p.L593Lc.1777C>TSubstitution - coding silent
PGA5ENSG00000256713ENST00000312403p.P245Lc.734C>TSubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.?c.1323-3C>TUnknown
ATRNL1ENSG00000107518ENST00000355044p.L546Lc.1638G>ASubstitution - coding silent
HALENSG00000084110ENST00000261208p.R473Rc.1419G>ASubstitution - coding silent
ANO1ENSG00000131620ENST00000355303p.?c.1781-4C>TUnknown
ADAMTS4ENSG00000158859ENST00000367996p.A187Tc.559G>ASubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.Q332Qc.996G>ASubstitution - coding silent
CCDC19ENSG00000213085ENST00000368099p.K467Kc.1401G>ASubstitution - coding silent
VRTNENSG00000133980ENST00000256362p.A493Tc.1477G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.G2101Gc.6303C>TSubstitution - coding silent
ABCG4ENSG00000172350ENST00000307417p.G283Gc.849C>TSubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.?c.6598-1G>AUnknown
FAM170BENSG00000172538ENST00000311787p.L219Lc.657G>ASubstitution - coding silent
A1CFENSG00000148584ENST00000373995p.A514Tc.1540G>ASubstitution - Missense
RAB3IPENSG00000127328ENST00000550536p.V41Vc.123G>ASubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.V710Ic.2128G>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.Q597*c.1789C>TSubstitution - Nonsense
SPTBENSG00000070182ENST00000389722p.R1221Wc.3661C>TSubstitution - Missense
TPM1ENSG00000140416ENST00000288398p.A22Vc.65C>TSubstitution - Missense
TMCO3ENSG00000150403ENST00000434316p.D52Dc.156C>TSubstitution - coding silent
TBKBP1ENSG00000198933ENST00000361722p.A212Tc.634G>ASubstitution - Missense
ATP2C2ENSG00000064270ENST00000262429p.Q535Qc.1605G>ASubstitution - coding silent
GPRASP1ENSG00000198932ENST00000415986p.G627Dc.1880G>ASubstitution - Missense
FAM150AENSG00000196711ENST00000358543p.?c.191-8C>TUnknown
TTNENSG00000155657ENST00000359218p.A2996Vc.8987C>TSubstitution - Missense
NR1H2ENSG00000131408ENST00000253727p.H84Hc.252C>TSubstitution - coding silent
SRSF2ENSG00000161547ENST00000392485p.K52Kc.156G>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000378539p.P47Pc.141C>TSubstitution - coding silent
FAM219AENSG00000164970ENST00000379078p.L135Lc.403C>TSubstitution - coding silent
BCAS1ENSG00000064787ENST00000411563p.A142Tc.424G>ASubstitution - Missense
CTSZENSG00000101160ENST00000217131p.D72Hc.214G>CSubstitution - Missense
CPED1ENSG00000106034ENST00000450913p.V773Vc.2319C>TSubstitution - coding silent
KLK5ENSG00000167754ENST00000336334p.C93Cc.279C>TSubstitution - coding silent
HRCENSG00000130528ENST00000252825p.Q109Qc.327A>GSubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.R684Cc.2050C>TSubstitution - Missense
ILF3ENSG00000129351ENST00000407004p.?c.2072-4G>AUnknown
APPBP2ENSG00000062725ENST00000083182p.L409Lc.1227G>ASubstitution - coding silent
MT1EENSG00000169715ENST00000330439p.P100Pc.300C>TSubstitution - coding silent
GNLYENSG00000115523ENST00000263863p.R104Cc.310C>TSubstitution - Missense
GATAD1ENSG00000157259ENST00000287957p.T186Tc.558G>ASubstitution - coding silent
EEF1DENSG00000104529ENST00000442189p.L624Lc.1872G>ASubstitution - coding silent
CCM2LENSG00000101331ENST00000300415p.R423Wc.1267C>TSubstitution - Missense
UBE2WENSG00000104343ENST00000419880p.N147Nc.441C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.E1075Kc.3223G>ASubstitution - Missense
OTOFENSG00000115155ENST00000402415p.R71Wc.211C>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000344425p.Q326*c.976C>TSubstitution - Nonsense
KCNQ2ENSG00000075043ENST00000354587p.Q326*c.976C>TSubstitution - Nonsense
GPR124ENSG00000020181ENST00000412232p.Q153Qc.459G>ASubstitution - coding silent
CREG2ENSG00000175874ENST00000324768p.?c.611+9C>TUnknown
NLRP4ENSG00000160505ENST00000587891p.M247Ic.741G>ASubstitution - Missense
CHST12ENSG00000136213ENST00000258711p.K234Kc.702G>ASubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.G851Gc.2553C>TSubstitution - coding silent
JARID2ENSG00000008083ENST00000341776p.?c.46-10G>AUnknown
SYNJ2ENSG00000078269ENST00000449859p.?c.1310-7C>TUnknown
ACE2ENSG00000130234ENST00000252519p.I759Ic.2277C>ASubstitution - coding silent
RBBP7ENSG00000102054ENST00000380087p.T71Tc.213G>ASubstitution - coding silent
F8ENSG00000185010ENST00000360256p.K1411Nc.4233G>TSubstitution - Missense
COL26A1ENSG00000160963ENST00000397927p.R62Qc.185G>ASubstitution - Missense
ACAD11ENSG00000240303ENST00000264990p.L438Lc.1314G>ASubstitution - coding silent
FAM149AENSG00000109794ENST00000356371p.T211Tc.633G>ASubstitution - coding silent
DDX43ENSG00000080007ENST00000370336p.M298Ic.894G>ASubstitution - Missense
FSD1LENSG00000106701ENST00000539376p.P40Hc.119C>ASubstitution - Missense
GFAPENSG00000131095ENST00000253408p.R270Rc.810C>TSubstitution - coding silent
COG4ENSG00000103051ENST00000323786p.Y331Yc.993C>TSubstitution - coding silent
SLC25A2ENSG00000120329ENST00000239451p.A112Vc.335C>TSubstitution - Missense
GALNT10ENSG00000164574ENST00000297107p.V420Vc.1260C>TSubstitution - coding silent
HDAC9ENSG00000048052ENST00000441542p.A617Vc.1850C>TSubstitution - Missense
EPC2ENSG00000135999ENST00000258484p.?c.948+10G>AUnknown
PLTPENSG00000100979ENST00000372431p.?c.1283-3C>TUnknown
MYOFENSG00000138119ENST00000371502p.P239Pc.717T>CSubstitution - coding silent
MINPP1ENSG00000107789ENST00000536010p.M57Ic.171G>ASubstitution - Missense
USP21ENSG00000143258ENST00000368002p.L139Lc.415C>TSubstitution - coding silent
CSF1ENSG00000184371ENST00000329608p.S214Sc.642C>TSubstitution - coding silent
UBE4BENSG00000130939ENST00000377153p.A43Vc.128C>TSubstitution - Missense
SMAD4ENSG00000141646ENST00000452201p.R38fs*4c.107_108insAInsertion - Frameshift
NT5DC2ENSG00000168268ENST00000422318p.R317Wc.949C>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000416441p.P651Hc.1952C>ASubstitution - Missense
ABCC1ENSG00000103222ENST00000399408p.I1323Ic.3969C>TSubstitution - coding silent
KIF21BENSG00000116852ENST00000422435p.Q558Qc.1674G>ASubstitution - coding silent
ENST00000398946p.H18Hc.54C>TSubstitution - coding silent
ALDOAENSG00000149925ENST00000338110p.R259Hc.776G>ASubstitution - Missense
MINPP1ENSG00000107789ENST00000371996p.M258Ic.774G>ASubstitution - Missense
EZH2ENSG00000106462ENST00000320356p.S537Nc.1610G>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.E799Vc.2396A>TSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.V743Ac.2228T>CSubstitution - Missense
LRRC8DENSG00000171492ENST00000337338p.T102Ic.305C>TSubstitution - Missense
FAM179BENSG00000198718ENST00000361577p.M1333Ic.3999G>ASubstitution - Missense
RCC1ENSG00000180198ENST00000398958p.G151Sc.451G>ASubstitution - Missense
GLYCTKENSG00000168237ENST00000436784p.A432Vc.1295C>TSubstitution - Missense
ENST00000396788p.G709Ec.2126G>ASubstitution - Missense
SLC4A2ENSG00000164889ENST00000485713p.S3Nc.8G>ASubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.R704Hc.2111G>ASubstitution - Missense
STARENSG00000147465ENST00000276449p.D246Nc.736G>ASubstitution - Missense
ENST00000377560_v62p.G3891Gc.11673C>TSubstitution - coding silent
CCDC81ENSG00000149201ENST00000354755p.A502Vc.1505C>TSubstitution - Missense
SLC52A2ENSG00000185803ENST00000329994p.R169Cc.505C>TSubstitution - Missense
PEPDENSG00000124299ENST00000244137p.R311Wc.931C>TSubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.R354Wc.1060C>TSubstitution - Missense
ENST00000393911p.V164Mc.490G>ASubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.T126Ic.377C>TSubstitution - Missense
TUFMENSG00000178952ENST00000313511p.P396Lc.1187C>TSubstitution - Missense
DCUN1D2ENSG00000150401ENST00000478244p.A180Vc.539C>TSubstitution - Missense
COL6A2ENSG00000142173ENST00000310645p.R213Hc.638G>ASubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.R965Cc.2893C>TSubstitution - Missense
ATCAYENSG00000167654ENST00000301260p.R331Kc.992G>ASubstitution - Missense
BRF2ENSG00000104221ENST00000220659p.V256Mc.766G>ASubstitution - Missense
CREG2ENSG00000175874ENST00000324768p.Q149Rc.446A>GSubstitution - Missense
ADRM1ENSG00000130706ENST00000253003p.S349Lc.1046C>TSubstitution - Missense
NM_014422.1p.G165Sc.493G>ASubstitution - Missense
ZC3H3ENSG00000014164ENST00000262577p.G82Rc.244G>ASubstitution - Missense
CKAP4ENSG00000136026ENST00000378026p.D224Dc.672C>TSubstitution - coding silent
DTLENSG00000143476ENST00000366991p.A100Ac.300C>TSubstitution - coding silent
ATP2B1ENSG00000070961ENST00000359142p.L734Lc.2202A>GSubstitution - coding silent
C15orf27ENSG00000169758ENST00000388942p.A53Tc.157G>ASubstitution - Missense
ZNF26ENSG00000198393ENST00000328654p.C372Cc.1116C>TSubstitution - coding silent
ZNF140ENSG00000196387ENST00000355557p.E70Kc.208G>ASubstitution - Missense
ENST00000368148p.L408Vc.1222C>GSubstitution - Missense
FOXJ2ENSG00000065970ENST00000162391p.Q192*c.574C>TSubstitution - Nonsense
DMBT1ENSG00000187908ENST00000368909p.S2334Sc.7002G>ASubstitution - coding silent
COL2A1ENSG00000139219ENST00000337299p.N1234Nc.3702C>TSubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.E894Ec.2682G>ASubstitution - coding silent
AKT3ENSG00000117020ENST00000366539p.?c.627+1G>AUnknown
ENST00000376032_v68p.Q217Qc.651A>GSubstitution - coding silent
VWCEENSG00000167992ENST00000335613p.E152Kc.454G>ASubstitution - Missense
TDRD9ENSG00000156414ENST00000339063p.Q357Qc.1071G>ASubstitution - coding silent
IQCCENSG00000160051ENST00000537469p.R287Rc.861C>TSubstitution - coding silent
STK40ENSG00000196182ENST00000373129p.H195Hc.585C>TSubstitution - coding silent
SH3D21ENSG00000214193ENST00000453908p.T532Tc.1596G>ASubstitution - coding silent
CDC42BPGENSG00000171219ENST00000342711p.A1318Ac.3954G>ASubstitution - coding silent
DDR2ENSG00000162733ENST00000367922p.L63Lc.187C>TSubstitution - coding silent
ABCC8ENSG00000006071ENST00000389817p.I1172Ic.3516C>TSubstitution - coding silent
NRASENSG00000213281ENST00000369535p.L159Lc.475C>TSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.V674Mc.2020G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.V1516Mc.4546G>ASubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.R577Rc.1731C>TSubstitution - coding silent
MMP10ENSG00000166670ENST00000279441p.Y262Yc.786C>TSubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000260283p.Q959*c.2875C>TSubstitution - Nonsense
LMOD1ENSG00000163431ENST00000367288p.T416Tc.1248G>ASubstitution - coding silent
KIF21BENSG00000116852ENST00000332129p.R836Cc.2506C>TSubstitution - Missense
CCDC91ENSG00000123106ENST00000381259p.?c.30+6C>TUnknown
UGT3A1ENSG00000145626ENST00000274278p.G103Gc.309C>TSubstitution - coding silent
VPS18ENSG00000104142ENST00000220509p.C652Cc.1956C>TSubstitution - coding silent
FBXL16ENSG00000127585ENST00000397621p.T206Tc.618G>ASubstitution - coding silent
KRT27ENSG00000171446ENST00000301656p.A166Tc.496G>ASubstitution - Missense
TXKENSG00000074966ENST00000264316p.Q10Qc.30G>ASubstitution - coding silent
PHLPP1ENSG00000081913ENST00000262719p.S1470Sc.4410C>TSubstitution - coding silent
NM_147171.1p.Q3131Qc.9393G>ASubstitution - coding silent
GPLD1ENSG00000112293ENST00000230036p.A286Tc.856G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.?c.2527-3C>TUnknown
TTNENSG00000155657ENST00000342992p.A32930Vc.98789C>TSubstitution - Missense
HDLBPENSG00000115677ENST00000391975p.L1035Lc.3103C>TSubstitution - coding silent
CARFENSG00000138380ENST00000320443p.C315Yc.944G>ASubstitution - Missense
ENST00000356127p.F29582Fc.88746C>TSubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.S46Rc.138C>GSubstitution - Missense
C8orf4ENSG00000176907ENST00000315792p.V36Mc.106G>ASubstitution - Missense
LCLAT1ENSG00000172954ENST00000309052p.?c.280-10G>AUnknown
ANAPC1ENSG00000153107ENST00000341068p.L622Lc.1866G>ASubstitution - coding silent
ZNF620ENSG00000177842ENST00000314529p.G286Gc.858C>GSubstitution - coding silent
PQBP1ENSG00000102103ENST00000376563p.?c.642-3C>TUnknown
GPR97ENSG00000182885ENST00000327655p.G379Rc.1135G>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.S1219Nc.3656G>ASubstitution - Missense
SDHAENSG00000073578ENST00000264932p.T126Tc.378C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.A1709Tc.5125G>ASubstitution - Missense
PARP15ENSG00000173200ENST00000310366p.?c.871-3C>TUnknown
OBSL1ENSG00000124006ENST00000404537p.Q1214Ec.3640C>GSubstitution - Missense
GIGYF2ENSG00000204120ENST00000409451p.Q664Qc.1992G>ASubstitution - coding silent
KCNJ14ENSG00000182324ENST00000391884p.L284Lc.852G>ASubstitution - coding silent
MAPK3ENSG00000102882ENST00000263025p.R67Rc.201C>TSubstitution - coding silent
KBTBD12ENSG00000187715ENST00000405256p.Y90Yc.270C>TSubstitution - coding silent
TBC1D24ENSG00000162065ENST00000567020p.?c.1284+8G>TUnknown
ATXN2LENSG00000168488ENST00000395547p.?c.2173-1G>AUnknown
C9orf116ENSG00000160345ENST00000371791p.G80Rc.238G>ASubstitution - Missense
RAB5CENSG00000108774ENST00000346213p.L26Lc.76C>TSubstitution - coding silent
ERLEC1ENSG00000068912ENST00000185150p.L25Lc.75G>ASubstitution - coding silent
ASIC2ENSG00000108684ENST00000359872p.T495Sc.1484C>GSubstitution - Missense
USF2ENSG00000105698ENST00000222305p.C284Cc.852C>TSubstitution - coding silent
HTR4ENSG00000164270ENST00000360693p.T97Ic.290C>TSubstitution - Missense
HTR4ENSG00000164270ENST00000362016p.T97Ic.290C>TSubstitution - Missense
OR2AE1ENSG00000244623ENST00000316368p.C50Yc.149G>ASubstitution - Missense
OR6B1ENSG00000221813ENST00000408922p.I278Ic.834T>CSubstitution - coding silent
SEPT14ENSG00000154997ENST00000388975p.T424Ic.1271C>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.A617Vc.1850C>TSubstitution - Missense
POLD2ENSG00000106628ENST00000406581p.D168Dc.504C>TSubstitution - coding silent
ENST00000248668_v71p.P396Pc.1188G>ASubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.H1737Hc.5211C>TSubstitution - coding silent
ZNF227ENSG00000131115ENST00000313040p.T487Mc.1460C>TSubstitution - Missense
C4orf50ENSG00000181215ENST00000324058p.A123Vc.368C>TSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.P453Pc.1359C>TSubstitution - coding silent
AHRRENSG00000063438ENST00000316418p.L221Lc.663G>ASubstitution - coding silent
NOTCH4ENSG00000204301ENST00000375023p.P502Pc.1506G>ASubstitution - coding silent
PSMB9ENSG00000240065ENST00000374859p.G165Gc.495C>TSubstitution - coding silent
ENST00000318560_v70p.?c.1424-1G>TUnknown
PHYHD1ENSG00000175287ENST00000372592p.V232Mc.694G>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.P1964Hc.5891C>ASubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.A420Tc.1258G>ASubstitution - Missense
EML3ENSG00000149499ENST00000529309p.R223Hc.668G>ASubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000302349p.?c.2311+1G>AUnknown
FADS3ENSG00000221968ENST00000540820p.H213Hc.639C>TSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.T335Sc.1003A>TSubstitution - Missense
PLCB4ENSG00000101333ENST00000378473p.?c.2320-3C>TUnknown
TCOF1ENSG00000070814ENST00000394269p.A399Vc.1196C>TSubstitution - Missense
DTNBENSG00000138101ENST00000288642p.T212Ic.635C>TSubstitution - Missense
PDIA6ENSG00000143870ENST00000381611p.A132Vc.395C>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.K1589Nc.4767A>TSubstitution - Missense
ADIGENSG00000182035ENST00000537425p.V121Mc.361G>ASubstitution - Missense
NSMFENSG00000165802ENST00000392812p.?c.1062+10G>AUnknown
FAM65BENSG00000111913ENST00000538035p.Q522*c.1564C>TSubstitution - Nonsense
NUDT6ENSG00000170917ENST00000339154p.V117Mc.349G>ASubstitution - Missense
ARSGENSG00000141337ENST00000448504p.M67Ic.201G>ASubstitution - Missense
PCBP1ENSG00000169564ENST00000303577p.C163Yc.488G>ASubstitution - Missense
PHAXENSG00000164902ENST00000297540p.A40Vc.119C>TSubstitution - Missense
CHST10ENSG00000115526ENST00000264249p.T265Mc.794C>TSubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.V498Ic.1492G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.E840Kc.2518G>ASubstitution - Missense
HNRNPUL2ENSG00000214753ENST00000301785p.R547Qc.1640G>ASubstitution - Missense
FAN1ENSG00000198690ENST00000362065p.L253Ic.757C>ASubstitution - Missense
ERGIC1ENSG00000113719ENST00000393784p.C82Yc.245G>ASubstitution - Missense
PLAGL1ENSG00000118495ENST00000367571p.S117Tc.350G>CSubstitution - Missense
MYBL1ENSG00000185697ENST00000522677p.H116Yc.346C>TSubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.M960Tc.2879T>CSubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.R430Wc.1288C>TSubstitution - Missense
CCDC78ENSG00000162004ENST00000293889p.R286Hc.857G>ASubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.S1043Nc.3128G>ASubstitution - Missense
DIS3ENSG00000083520ENST00000377767p.H568_I572delHNAEIc.1701_1715del15Deletion - In frame
GNAO1ENSG00000087258ENST00000262494p.D65Dc.195C>TSubstitution - coding silent
PRR13ENSG00000205352ENST00000429243p.G133Gc.399C>TSubstitution - coding silent
SLC35A3ENSG00000117620ENST00000370155p.C54Cc.162C>TSubstitution - coding silent
RBP7ENSG00000162444ENST00000294435p.A3Tc.7G>ASubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.V250Ic.748G>ASubstitution - Missense
TCEA3ENSG00000204219ENST00000450454p.T23Mc.68C>TSubstitution - Missense
HTR1DENSG00000179546ENST00000374619p.C327Yc.980G>ASubstitution - Missense
SLC4A8ENSG00000050438ENST00000453097p.L888Lc.2662C>TSubstitution - coding silent
C2CD3ENSG00000168014ENST00000313663p.G158Rc.472G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.S2334Sc.7002G>ASubstitution - coding silent
ACSBG1ENSG00000103740ENST00000258873p.Q225Qc.675G>ASubstitution - coding silent
MYOM3ENSG00000142661ENST00000374434p.P395Pc.1185G>ASubstitution - coding silent
ZDHHC6ENSG00000023041ENST00000369405p.L148fs*92c.441_442insTInsertion - Frameshift
MTMR2ENSG00000087053ENST00000352297p.?c.1554+1G>AUnknown
PLCH2ENSG00000149527ENST00000378486p.Q172Qc.516G>ASubstitution - coding silent
DUSP8ENSG00000184545ENST00000397374p.L221Lc.663G>ASubstitution - coding silent
HPS5ENSG00000110756ENST00000349215p.Q1109*c.3325C>TSubstitution - Nonsense
HEATR4ENSG00000187105ENST00000553558p.?c.2546+8C>TUnknown
MLXIPENSG00000175727ENST00000319080p.I77Ic.231C>TSubstitution - coding silent
ANXA9ENSG00000143412ENST00000368947p.V67Mc.199G>ASubstitution - Missense
CUBNENSG00000107611ENST00000377833p.P2243Pc.6729G>ASubstitution - coding silent
EP400ENSG00000183495ENST00000389561p.V1303Ic.3907G>ASubstitution - Missense
GON4LENSG00000116580ENST00000361040p.R990Kc.2969G>ASubstitution - Missense
FGF7ENSG00000140285ENST00000267843p.T185fs*9c.548delADeletion - Frameshift
AKAP5ENSG00000179841ENST00000394718p.Q155*c.463C>TSubstitution - Nonsense
PELI2ENSG00000139946ENST00000267460p.G26Gc.78G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.R518Cc.1552C>TSubstitution - Missense
CNN3ENSG00000117519ENST00000370206p.?c.58-3C>TUnknown
FAM110BENSG00000169122ENST00000361488p.H180Hc.540C>TSubstitution - coding silent
CHD5ENSG00000116254ENST00000262450p.S1252Sc.3756C>TSubstitution - coding silent
BMP4ENSG00000125378ENST00000559087p.A24Vc.71C>TSubstitution - Missense
XAB2ENSG00000076924ENST00000358368p.T755Tc.2265C>TSubstitution - coding silent
ENST00000356127p.A3042Vc.9125C>TSubstitution - Missense
CRYGAENSG00000168582ENST00000304502p.R140Qc.419G>ASubstitution - Missense
FGF22ENSG00000070388ENST00000215530p.V95Mc.283G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000423507p.P47Pc.141C>TSubstitution - coding silent
FLNCENSG00000128591ENST00000325888p.?c.6005-3C>TUnknown
PSMA7ENSG00000101182ENST00000370858p.L76Lc.228C>TSubstitution - coding silent
CPDENSG00000108582ENST00000225719p.?c.995-1G>AUnknown
CRYBA1ENSG00000108255ENST00000225387p.E6Ec.18G>ASubstitution - coding silent
PRICKLE2ENSG00000163637ENST00000295902p.C778Cc.2334C>TSubstitution - coding silent
DOCK5ENSG00000147459ENST00000276440p.?c.2092-3C>TUnknown
TNFRSF10CENSG00000173535ENST00000356864p.T115Tc.345C>ASubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.M1997Ic.5991G>CSubstitution - Missense
TBC1D16ENSG00000167291ENST00000310924p.G219Gc.657C>TSubstitution - coding silent
XM_043272.9p.A319Vc.956C>TSubstitution - Missense
UBA7ENSG00000182179ENST00000333486p.R306Wc.916C>TSubstitution - Missense
CLHC1ENSG00000162994ENST00000407122p.I521Mc.1563A>GSubstitution - Missense
ARMC9ENSG00000135931ENST00000349938p.H81Hc.243C>TSubstitution - coding silent
POTEJENSG00000222038ENST00000409602p.L614Sc.1841T>CSubstitution - Missense
ENST00000305663p.L321Lc.963G>ASubstitution - coding silent
CCDC9ENSG00000105321ENST00000221922p.Q99*c.295C>TSubstitution - Nonsense
ITPR1ENSG00000150995ENST00000456211p.Q1100*c.3298C>TSubstitution - Nonsense
TAB1ENSG00000100324ENST00000216160p.S404Sc.1212C>TSubstitution - coding silent
NT5DC1ENSG00000178425ENST00000319550p.G191Gc.573C>TSubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.C189Cc.567C>TSubstitution - coding silent
COL5A3ENSG00000080573ENST00000264828p.R1697Gc.5089C>GSubstitution - Missense
ICAM3ENSG00000076662ENST00000160262p.A166Vc.497C>TSubstitution - Missense
C9orf84ENSG00000165181ENST00000394779p.R1219Cc.3655C>TSubstitution - Missense
GOLM1ENSG00000135052ENST00000388712p.G61Sc.181G>ASubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.L1116Lc.3348G>ASubstitution - coding silent
ABCG8ENSG00000143921ENST00000272286p.V151Mc.451G>ASubstitution - Missense
FXR1ENSG00000114416ENST00000357559p.?c.1136-5A>GUnknown
NUB1ENSG00000013374ENST00000566856p.H149Hc.447C>TSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.Q197*c.589C>TSubstitution - Nonsense
MDC1ENSG00000137337ENST00000376406p.R1957Hc.5870G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.R2177Cc.6529C>TSubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.T1389Tc.4167G>CSubstitution - coding silent
ITGA2ENSG00000164171ENST00000296585p.C1050Yc.3149G>ASubstitution - Missense
ENST00000317826p.L91Lc.271C>TSubstitution - coding silent
FAM129BENSG00000136830ENST00000373312p.Q295Qc.885G>ASubstitution - coding silent
KRT80ENSG00000167767ENST00000313234p.T200Ic.599C>TSubstitution - Missense
MON2ENSG00000061987ENST00000280379p.A794Tc.2380G>ASubstitution - Missense
ENST00000266505_v70p.Q371Qc.1113G>ASubstitution - coding silent
OR5F1ENSG00000149133ENST00000278409p.Y278Fc.833A>TSubstitution - Missense
WSCD2ENSG00000075035ENST00000261400p.?c.1145-10C>TUnknown
ESAMENSG00000149564ENST00000442070p.S115Cc.343A>TSubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.D465Dc.1395C>TSubstitution - coding silent
ITIH4ENSG00000055955ENST00000346281p.R658Hc.1973G>ASubstitution - Missense
ENST00000358661p.?c.93-8C>TUnknown
EPN1ENSG00000063245ENST00000270460p.?c.1265-1G>AUnknown
PIGXENSG00000163964ENST00000296333p.L242Vc.724C>GSubstitution - Missense
VPS8ENSG00000156931ENST00000287546p.R1390Rc.4170C>TSubstitution - coding silent
ENST00000373851p.?c.1498-4G>AUnknown
TRIM39ENSG00000204599ENST00000540416p.R400Wc.1198C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000361741p.Q416*c.1246C>TSubstitution - Nonsense
PCLOENSG00000186472ENST00000423517p.L3770Fc.11308C>TSubstitution - Missense
SCAMP3ENSG00000116521ENST00000302631p.A331Tc.991G>ASubstitution - Missense
WDR1ENSG00000071127ENST00000499869p.V423Vc.1269C>TSubstitution - coding silent
ENST00000262017p.V691Ic.2071G>ASubstitution - Missense
PDE9AENSG00000160191ENST00000291539p.R187Hc.560G>ASubstitution - Missense
CPMENSG00000135678ENST00000551568p.M122Ic.366G>CSubstitution - Missense
KDM4BENSG00000127663ENST00000159111p.R296Wc.886C>TSubstitution - Missense
TNFRSF11BENSG00000164761ENST00000297350p.R111Hc.332G>ASubstitution - Missense
VPS28ENSG00000160948ENST00000377348p.T138Mc.413C>TSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.A784Tc.2350G>ASubstitution - Missense
NM_152696p.S587Nc.1760G>ASubstitution - Missense
RPS8ENSG00000142937ENST00000396651p.V46Ic.136G>ASubstitution - Missense
SU_MAST3p.A632Tc.1894G>ASubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.C26Yc.77G>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.C1315Yc.3944G>ASubstitution - Missense
NRIP1ENSG00000180530ENST00000400199p.E729fs*5c.2184delADeletion - Frameshift
CCDC138ENSG00000163006ENST00000295124p.R208Qc.623G>ASubstitution - Missense
MIER1ENSG00000198160ENST00000355356p.A101Vc.302C>TSubstitution - Missense
MARK1ENSG00000116141ENST00000366917p.V506Ic.1516G>ASubstitution - Missense
TBC1D16ENSG00000167291ENST00000310924p.E724Gc.2171A>GSubstitution - Missense
GTF3C2ENSG00000115207ENST00000264720p.A409Vc.1226C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.P1440Pc.4320G>ASubstitution - coding silent
ENST00000446248_v68p.A263Vc.788C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.M363Ic.1089G>ASubstitution - Missense
FAM102AENSG00000167106ENST00000373095p.K6Mc.17A>TSubstitution - Missense
AP2A2ENSG00000183020ENST00000448903p.A38Vc.113C>TSubstitution - Missense
DGCR8ENSG00000128191ENST00000351989p.R527Hc.1580G>ASubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.C122Yc.365G>ASubstitution - Missense
TYSND1ENSG00000156521ENST00000287078p.A392Tc.1174G>ASubstitution - Missense
SAMD12ENSG00000177570ENST00000314727p.R130Qc.389G>ASubstitution - Missense
ATP11BENSG00000058063ENST00000323116p.C1144Yc.3431G>ASubstitution - Missense
TAS2R31ENSG00000256436ENST00000390675p.N283Nc.849C>TSubstitution - coding silent
MFSD5ENSG00000182544ENST00000534842p.T221Ic.662C>TSubstitution - Missense
ATP2B1ENSG00000070961ENST00000261173p.L734Lc.2202A>GSubstitution - coding silent
ANO9ENSG00000185101ENST00000332826p.?c.1186-4G>AUnknown
SORL1ENSG00000137642ENST00000260197p.G317Gc.951C>TSubstitution - coding silent
IQGAP3ENSG00000183856ENST00000361170p.L1389Lc.4167G>ASubstitution - coding silent
TFCP2ENSG00000135457ENST00000257915p.?c.1061-1G>AUnknown
ENST00000368148p.G1148Rc.3442G>ASubstitution - Missense
IL16ENSG00000172349ENST00000302987p.E1059Kc.3175G>ASubstitution - Missense
MAP1LC3CENSG00000197769ENST00000357246p.N35Nc.105C>TSubstitution - coding silent
PLCH2ENSG00000149527ENST00000378486p.S1148Tc.3443G>CSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.L1618Lc.4852C>TSubstitution - coding silent
TEX30ENSG00000151287ENST00000376019p.Q176Qc.528A>GSubstitution - coding silent
OPRD1ENSG00000116329ENST00000234961p.L235Lc.705C>TSubstitution - coding silent
DARS2ENSG00000117593ENST00000361951p.H445Hc.1335C>TSubstitution - coding silent
MAP4K2ENSG00000168067ENST00000294066p.Q269*c.805C>TSubstitution - Nonsense
CHRM1ENSG00000168539ENST00000306960p.Y381Yc.1143C>TSubstitution - coding silent
TRPM1ENSG00000134160ENST00000397795p.?c.3431-10C>AUnknown
OGDHLENSG00000197444ENST00000374103p.L338Lc.1012C>TSubstitution - coding silent
SERINC4ENSG00000184716ENST00000249714p.S13Fc.38C>TSubstitution - Missense
GALNT16ENSG00000100626ENST00000553669p.?c.690+9C>TUnknown
LUZP2ENSG00000187398ENST00000336930p.T46Ic.137C>TSubstitution - Missense
NUDT17ENSG00000186364ENST00000334513p.P299Pc.897G>ASubstitution - coding silent
ZFYVE26ENSG00000072121ENST00000347230p.C564Cc.1692C>TSubstitution - coding silent
RSRC2ENSG00000111011ENST00000354654p.R104Wc.310C>TSubstitution - Missense
IPPENSG00000197429ENST00000396478p.G443Rc.1327G>ASubstitution - Missense
ZFYVE9ENSG00000157077ENST00000287727p.?c.2870-9C>AUnknown
NRD1ENSG00000078618ENST00000354831p.?c.342-3C>TUnknown
CACNA1CENSG00000151067ENST00000402845p.R548Cc.1642C>TSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.A1007Tc.3019G>ASubstitution - Missense
LCTLENSG00000188501ENST00000341509p.?c.282+8C>TUnknown
ITGB3ENSG00000259207ENST00000435993p.D606Nc.1816G>ASubstitution - Missense
TNFRSF9ENSG00000049249ENST00000377507p.R244*c.730C>TSubstitution - Nonsense
ANKARENSG00000151687ENST00000313581p.S1240Nc.3719G>ASubstitution - Missense
OPRK1ENSG00000082556ENST00000265572p.L275Lc.823C>TSubstitution - coding silent
RBMXL3ENSG00000175718ENST00000424776p.R675Hc.2024G>ASubstitution - Missense
BPIFB3ENSG00000186190ENST00000375494p.A215Gc.644C>GSubstitution - Missense
EXOC7ENSG00000182473ENST00000357231p.K606Kc.1818G>ASubstitution - coding silent
TRPM3ENSG00000083067ENST00000377105p.C1057Cc.3171C>TSubstitution - coding silent
RSPH1ENSG00000160188ENST00000291536p.G101Gc.303C>TSubstitution - coding silent
CCDC132ENSG00000004766ENST00000305866p.?c.1977+1G>AUnknown
ENSG00000091436ENST00000409176p.N646fs*>155c.1933delADeletion - Frameshift
ZNF205ENSG00000122386ENST00000219091p.S251Sc.753C>TSubstitution - coding silent
PRDM7ENSG00000126856ENST00000449207p.Q99Rc.296A>GSubstitution - Missense
CTU2ENSG00000174177ENST00000567949p.A146Tc.436G>ASubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.A732Tc.2194G>ASubstitution - Missense
ENST00000431569p.G362Sc.1084G>ASubstitution - Missense
MYRIPENSG00000170011ENST00000302541p.G728Gc.2184C>TSubstitution - coding silent
SLC9A5ENSG00000135740ENST00000299798p.N640Nc.1920C>TSubstitution - coding silent
PDCD6ENSG00000249915ENST00000264933p.G79Gc.237C>TSubstitution - coding silent
CRIPAKENSG00000179979ENST00000324803p.C172Yc.515G>ASubstitution - Missense
CHPFENSG00000123989ENST00000243776p.Q761Qc.2283G>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.G1827Dc.5480G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.Q363Qc.1089G>ASubstitution - coding silent
G6PDENSG00000160211ENST00000393562p.C476Cc.1428C>TSubstitution - coding silent
ENST00000326929p.E487Gc.1460A>GSubstitution - Missense
PRPH2ENSG00000112619ENST00000230381p.S259Nc.776G>ASubstitution - Missense
TRIP6ENSG00000087077ENST00000200457p.V170Vc.510G>ASubstitution - coding silent
ENST00000409602_v68p.L614Sc.1841T>CSubstitution - Missense
NCKAP5ENSG00000176771ENST00000405974p.?c.610-3C>TUnknown
JMYENSG00000152409ENST00000396137p.Q640Qc.1920G>ASubstitution - coding silent
ST13ENSG00000100380ENST00000216218p.G295Rc.883G>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.A440Tc.1318G>ASubstitution - Missense
ZDHHC11ENSG00000188818ENST00000424784p.G180Sc.538G>ASubstitution - Missense
GADD45GENSG00000130222ENST00000252506p.T11Ic.32C>TSubstitution - Missense
CDC23ENSG00000094880ENST00000394886p.?c.522-5C>TUnknown
PCDHA11ENSG00000249158ENST00000398640p.A57Vc.170C>TSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.R121*c.361C>TSubstitution - Nonsense
ZFPM2ENSG00000169946ENST00000407775p.?c.421-5T>CUnknown
SLC12A5ENSG00000124140ENST00000243964p.L750Fc.2250G>CSubstitution - Missense
SLC35C2ENSG00000080189ENST00000372229p.A142Tc.424G>ASubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.A224Pc.670G>CSubstitution - Missense
NM_197941.1p.L156Lc.468G>ASubstitution - coding silent
CLIC5ENSG00000112782ENST00000544153p.T70Tc.210G>ASubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.V1339Ic.4015G>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.R1899Hc.5696G>ASubstitution - Missense
EML5ENSG00000165521ENST00000352093p.P1453Tc.4357C>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373388p.M131Ic.393G>ASubstitution - Missense
MIER1ENSG00000198160ENST00000357692p.A118Vc.353C>TSubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.T119Tc.357G>ASubstitution - coding silent
SLC22A7ENSG00000137204ENST00000449231p.L77Fc.229C>TSubstitution - Missense
NUB1ENSG00000013374ENST00000568733p.H173Hc.519C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.E3599Ec.10797G>ASubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000409386p.P1142Pc.3426G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.V410Mc.1228G>ASubstitution - Missense
CSNK1A1ENSG00000113712ENST00000377843p.A257Vc.770C>TSubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.R205Kc.614G>ASubstitution - Missense
PTPRNENSG00000054356ENST00000295718p.T783Tc.2349G>ASubstitution - coding silent
SLAMF1ENSG00000117090ENST00000302035p.V211Mc.631G>ASubstitution - Missense
RFX1ENSG00000132005ENST00000254325p.G451Gc.1353C>TSubstitution - coding silent
HTRA1ENSG00000166033ENST00000368984p.A412Ac.1236G>ASubstitution - coding silent
NINENSG00000100503ENST00000382041p.Q1982Rc.5945A>GSubstitution - Missense
FKBP9ENSG00000122642ENST00000242209p.G124Dc.371G>ASubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.S1788Nc.5363G>ASubstitution - Missense
NPRL3ENSG00000103148ENST00000399953p.S548Nc.1643G>ASubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.A392Vc.1175C>TSubstitution - Missense
MON2ENSG00000061987ENST00000393632p.A794Tc.2380G>ASubstitution - Missense
CCAR2ENSG00000158941ENST00000389279p.A699Vc.2096C>TSubstitution - Missense
NME6ENSG00000172113ENST00000421967p.C171Yc.512G>ASubstitution - Missense
KLHL17ENSG00000187961ENST00000338591p.D266Nc.796G>ASubstitution - Missense
ZBTB3ENSG00000185670ENST00000394807p.C95Yc.284G>ASubstitution - Missense
ANAPC4ENSG00000053900ENST00000315368p.C732Yc.2195G>ASubstitution - Missense
MPNDENSG00000008382ENST00000262966p.A203Tc.607G>ASubstitution - Missense
GPAA1ENSG00000197858ENST00000355091p.R541Wc.1621C>TSubstitution - Missense
LRFN4ENSG00000173621ENST00000309602p.G164Sc.490G>ASubstitution - Missense
MCOLN2ENSG00000153898ENST00000370608p.V299Mc.895G>ASubstitution - Missense
TROAPENSG00000135451ENST00000257909p.A584Vc.1751C>TSubstitution - Missense
MCPH1ENSG00000147316ENST00000344683p.T220Ic.659C>TSubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.N375Sc.1124A>GSubstitution - Missense
POGKENSG00000143157ENST00000367875p.R456Wc.1366C>TSubstitution - Missense
IARS2ENSG00000067704ENST00000302637p.Q223Hc.669G>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G903Sc.2707G>ASubstitution - Missense
MUTENSG00000146085ENST00000274813p.R610Hc.1829G>ASubstitution - Missense
NF2ENSG00000186575ENST00000403999p.A403Tc.1207G>ASubstitution - Missense
FAIMENSG00000158234ENST00000338446p.D153Hc.457G>CSubstitution - Missense
FKBP15ENSG00000119321ENST00000238256p.A261Tc.781G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.A664Vc.1991C>TSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.V814Ic.2440G>ASubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.R1489Wc.4465C>TSubstitution - Missense
L3HYPDHENSG00000126790ENST00000247194p.T334Mc.1001C>TSubstitution - Missense
XM_291321.3p.R556Wc.1666C>TSubstitution - Missense
FAM161AENSG00000170264ENST00000307507p.V406Mc.1216G>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.S1286Sc.3858C>TSubstitution - coding silent
ENST00000362029p.R2Wc.4C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000342183p.P335Pc.1005G>ASubstitution - coding silent
LAMC1ENSG00000135862ENST00000258341p.R255Hc.764G>ASubstitution - Missense
ARHGAP5ENSG00000100852ENST00000345122p.C1291Yc.3872G>ASubstitution - Missense
SETD5ENSG00000168137ENST00000302463p.R434Wc.1300C>TSubstitution - Missense
KLHL12ENSG00000117153ENST00000367261p.R48Wc.142C>TSubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.V842Ic.2524G>ASubstitution - Missense
NEURL4ENSG00000215041ENST00000315614p.C1341Yc.4022G>ASubstitution - Missense
NEIL2ENSG00000154328ENST00000455213p.C194Yc.581G>ASubstitution - Missense
NHSENSG00000188158ENST00000380060p.R247Cc.739C>TSubstitution - Missense
NSMFENSG00000165802ENST00000371472p.R516Hc.1547G>ASubstitution - Missense
TRIB3ENSG00000101255ENST00000217233p.L133Pc.398T>CSubstitution - Missense
ZDHHC7ENSG00000153786ENST00000313732p.F63Sc.188T>CSubstitution - Missense
KCNS3ENSG00000170745ENST00000304101p.A179Tc.535G>ASubstitution - Missense
KLHDC8BENSG00000185909ENST00000332780p.M1Ic.3G>ASubstitution - Missense
DOCK9ENSG00000088387ENST00000339416p.G1896Gc.5688C>TSubstitution - coding silent
UBE4BENSG00000130939ENST00000343090p.?c.1440-1G>AUnknown
ZDHHC16ENSG00000171307ENST00000393760p.C274Cc.822C>TSubstitution - coding silent
PLCE1ENSG00000138193ENST00000260766p.V385Mc.1153G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000361373p.M650Tc.1949T>CSubstitution - Missense
C10orf120ENSG00000183559ENST00000329446p.A149Tc.445G>ASubstitution - Missense
ZNF496ENSG00000162714ENST00000294753p.T243Tc.729T>GSubstitution - coding silent
CATSPER1ENSG00000175294ENST00000312106p.L560Lc.1680G>ASubstitution - coding silent
SPENENSG00000065526ENST00000375759p.R871Hc.2612G>ASubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.D87Dc.261C>TSubstitution - coding silent
MAGI3ENSG00000081026ENST00000369615p.S234Sc.702C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.D784Dc.2352C>TSubstitution - coding silent
USP28ENSG00000048028ENST00000003302p.Q253*c.757C>TSubstitution - Nonsense
ENST00000389961_v65p.F25Ic.73T>ASubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.P91Lc.272C>TSubstitution - Missense
BUB1BENSG00000156970ENST00000287598p.Q56Qc.168G>ASubstitution - coding silent
NM_003685.1p.R190Rc.570C>TSubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.R349Mc.1046G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.L7418Fc.22252C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.S1232Lc.3695C>TSubstitution - Missense
TMEM35ENSG00000126950ENST00000372930p.V48Ic.142G>ASubstitution - Missense
SRCENSG00000197122ENST00000445403p.?c.1271-4G>AUnknown
ITIH1ENSG00000055957ENST00000273283p.P213Pc.639G>ASubstitution - coding silent
MAMDC2ENSG00000165072ENST00000377182p.R575*c.1723C>TSubstitution - Nonsense
ITGB2ENSG00000160255ENST00000397852p.G531Rc.1591G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.R965Hc.2894G>ASubstitution - Missense
SLC38A10ENSG00000157637ENST00000374759p.V465Vc.1395G>ASubstitution - coding silent
NUP205ENSG00000155561ENST00000285968p.L823Lc.2469G>ASubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.G796Gc.2388C>TSubstitution - coding silent
COMMD5ENSG00000170619ENST00000305103p.L52Lc.154C>TSubstitution - coding silent
NM_003319p.Y24398Yc.73194C>TSubstitution - coding silent
GP6ENSG00000088053ENST00000310373p.S35Tc.104G>CSubstitution - Missense
ENST00000400522_v68p.?c.208+9G>AUnknown
GTF3C2ENSG00000115207ENST00000264720p.R145*c.433C>TSubstitution - Nonsense
KIAA1524ENSG00000163507ENST00000295746p.?c.452+10C>TUnknown
EFR3BENSG00000084710ENST00000403714p.Q739*c.2215C>TSubstitution - Nonsense
ENST00000405167p.R2540Hc.7619G>ASubstitution - Missense
NM_000933.2p.?c.2284-3C>TUnknown
DUS3LENSG00000141994ENST00000309061p.?c.900+4C>TUnknown
CDH3ENSG00000062038ENST00000264012p.S800Sc.2400C>TSubstitution - coding silent
ELMOD3ENSG00000115459ENST00000315658p.Q100*c.298C>TSubstitution - Nonsense
TRPC3ENSG00000138741ENST00000379645p.L424Lc.1272C>TSubstitution - coding silent
ENST00000359743p.H81Hc.243C>TSubstitution - coding silent
OBSL1ENSG00000124006ENST00000404537p.L1450Lc.4348C>TSubstitution - coding silent
NM_005689.1p.?c.2351+7G>AUnknown
GIGYF2ENSG00000204120ENST00000373563p.Q552*c.1654C>TSubstitution - Nonsense
ENST00000380437p.Q592*c.1774C>TSubstitution - Nonsense
TRPC1ENSG00000144935ENST00000273482p.Q304*c.910C>TSubstitution - Nonsense
ENST00000328843_v70p.T2889Tc.8667C>TSubstitution - coding silent
LIMK1ENSG00000106683ENST00000538333p.S247Nc.740G>ASubstitution - Missense
LIMK1ENSG00000106683ENST00000538333p.G312Gc.936C>TSubstitution - coding silent
PLECENSG00000178209ENST00000356346p.R4349Hc.13046G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.E3585Ec.10755G>ASubstitution - coding silent
MAPK15ENSG00000181085ENST00000395107p.Q55Qc.165G>ASubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.P675Sc.2023C>TSubstitution - Missense
EEF1DENSG00000104529ENST00000423316p.L624Lc.1872G>ASubstitution - coding silent
MTSS1ENSG00000170873ENST00000378017p.R698Kc.2093G>ASubstitution - Missense
MTSS1ENSG00000170873ENST00000378017p.K587Kc.1761G>ASubstitution - coding silent
SAMD12ENSG00000177570ENST00000409003p.R130Qc.389G>ASubstitution - Missense
ASB4ENSG00000005981ENST00000428113p.H112Hc.336C>TSubstitution - coding silent
ERLIN2ENSG00000147475ENST00000523887p.?c.189+6C>TUnknown
ADAM28ENSG00000042980ENST00000437154p.A302Tc.904G>ASubstitution - Missense
FGF17ENSG00000158815ENST00000359441p.T139Tc.417G>ASubstitution - coding silent
BMP1ENSG00000168487ENST00000397814p.A390Ac.1170G>ASubstitution - coding silent
TMEM67ENSG00000164953ENST00000409623p.T581Ic.1742C>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.P2633Lc.7898C>TSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.V331Mc.991G>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000313616p.A210Pc.628G>CSubstitution - Missense
SH2D3CENSG00000095370ENST00000440630p.P290Lc.869C>TSubstitution - Missense
ENST00000259410p.R313Qc.938G>ASubstitution - Missense
FKBP15ENSG00000119321ENST00000414250p.A286Tc.856G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.C1202Yc.3605G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H324Hc.972C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.A360Vc.1079C>TSubstitution - Missense
C9orf9ENSG00000165698ENST00000372136p.A153Tc.457G>ASubstitution - Missense
SURF4ENSG00000148248ENST00000371991p.?c.49-4G>AUnknown
POMT1ENSG00000130714ENST00000354713p.H353Hc.1059C>TSubstitution - coding silent
RAPGEF1ENSG00000107263ENST00000372195p.Q917*c.2749C>TSubstitution - Nonsense
NUP214ENSG00000126883ENST00000451030p.R2090*c.6268C>TSubstitution - Nonsense
LCN2ENSG00000148346ENST00000373013p.R176Hc.527G>ASubstitution - Missense
C9orf117ENSG00000160401ENST00000373293p.S36Nc.107G>ASubstitution - Missense
SH2D3CENSG00000095370ENST00000373276p.P385Pc.1155C>TSubstitution - coding silent
NSMFENSG00000165802ENST00000392812p.R495Hc.1484G>ASubstitution - Missense
NSMFENSG00000165802ENST00000371468p.A114Tc.340G>ASubstitution - Missense
CARD9ENSG00000187796ENST00000371734p.R57Hc.170G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.D1543Nc.4627G>ASubstitution - Missense
RNF38ENSG00000137075ENST00000377877p.P285Lc.854C>TSubstitution - Missense
CNTNAP3ENSG00000106714ENST00000358144p.D728Dc.2184C>TSubstitution - coding silent
ENST00000329762p.S236Nc.707G>ASubstitution - Missense
FAM120AENSG00000048828ENST00000333936p.V870Ic.2608G>ASubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.T154Tc.462C>TSubstitution - coding silent
BCORL1ENSG00000085185ENST00000303743p.V718Mc.2152G>ASubstitution - Missense
NM_207422.1p.E2Kc.4G>ASubstitution - Missense
TEX11ENSG00000120498ENST00000395889p.A646Vc.1937C>TSubstitution - Missense
HDAC6ENSG00000094631ENST00000444343p.C142Cc.426C>TSubstitution - coding silent
HDAC6ENSG00000094631ENST00000413163p.C73Cc.219C>TSubstitution - coding silent
PQBP1ENSG00000102103ENST00000456306p.?c.323-3C>TUnknown
KRASENSG00000133703ENST00000311936p.Q61Hc.183A>TSubstitution - Missense
RAB37ENSG00000172794ENST00000402449p.I58Ic.174C>TSubstitution - coding silent
NUP160ENSG00000030066ENST00000378460p.A1140Vc.3419C>TSubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.P224Lc.671C>TSubstitution - Missense
DDX23ENSG00000174243ENST00000308025p.W357Rc.1069T>CSubstitution - Missense
LRCH4ENSG00000077454ENST00000310300p.R341Hc.1022G>ASubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.R1794Cc.5380C>TSubstitution - Missense
ATG13ENSG00000175224ENST00000528494p.D108Nc.322G>ASubstitution - Missense
SLC52A2ENSG00000185803ENST00000329994p.A313Vc.938C>TSubstitution - Missense
SYBUENSG00000147642ENST00000399066p.E454Kc.1360G>ASubstitution - Missense
MAP3K9ENSG00000006432ENST00000555993p.T1056Ic.3167C>TSubstitution - Missense
NTAN1ENSG00000157045ENST00000287706p.P308Lc.923C>TSubstitution - Missense
SERINC2ENSG00000168528ENST00000373709p.A253Tc.757G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000361802p.S277Nc.830G>ASubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.Q1715*c.5143C>TSubstitution - Nonsense
BCAS1ENSG00000064787ENST00000371440p.A239Tc.715G>ASubstitution - Missense
PPIL2ENSG00000100023ENST00000412327p.?c.244-3C>TUnknown
CLTCL1ENSG00000070371ENST00000427926p.Q740*c.2218C>TSubstitution - Nonsense
CLTCL1ENSG00000070371ENST00000427926p.C1569Yc.4706G>ASubstitution - Missense
CERKENSG00000100422ENST00000216264p.F292Fc.876C>TSubstitution - coding silent
PPP6R2ENSG00000100239ENST00000216061p.S615Nc.1844G>ASubstitution - Missense
SUN2ENSG00000100242ENST00000411587p.L320Lc.960G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.M363Ic.1089G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.M363Ic.1089G>ASubstitution - Missense
ENST00000466655p.R126Wc.376C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000536766p.T139Tc.417G>ASubstitution - coding silent
AP1B1ENSG00000100280ENST00000415447p.Q853*c.2557C>TSubstitution - Nonsense
ZNRF3ENSG00000183579ENST00000544604p.P480Rc.1439C>GSubstitution - Missense
DBIENSG00000155368ENST00000535617p.G31Gc.93C>GSubstitution - coding silent
CHST10ENSG00000115526ENST00000542617p.T313Mc.938C>TSubstitution - Missense
ARHGEF4ENSG00000136002ENST00000355771p.Q373Rc.1118A>GSubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.H585Hc.1755T>CSubstitution - coding silent
MYT1LENSG00000186487ENST00000428368p.R349Mc.1046G>TSubstitution - Missense
GIGYF2ENSG00000204120ENST00000452341p.Q474Qc.1422G>ASubstitution - coding silent
ENST00000398800_v70p.L463Lc.1389G>ASubstitution - coding silent
LCLAT1ENSG00000172954ENST00000319406p.?c.280-10G>AUnknown
HDLBPENSG00000115677ENST00000427183p.L1002Lc.3004C>TSubstitution - coding silent
KIF1AENSG00000130294ENST00000498729p.V178Mc.532G>ASubstitution - Missense
ENST00000310397_v70p.V814Ic.2440G>ASubstitution - Missense
ENST00000310397_v70p.C1316Yc.3947G>ASubstitution - Missense
ACPL2ENSG00000155893ENST00000393007p.R320Wc.958C>TSubstitution - Missense
PLXND1ENSG00000004399ENST00000393239p.L1456Lc.4366C>TSubstitution - coding silent
PLXND1ENSG00000004399ENST00000393239p.E1328Dc.3984G>TSubstitution - Missense
BOCENSG00000144857ENST00000355385p.H88Hc.264C>TSubstitution - coding silent
INPP4AENSG00000040933ENST00000545415p.T359Ic.1076C>TSubstitution - Missense
INPP4AENSG00000040933ENST00000545415p.A913Tc.2737G>ASubstitution - Missense
NGLY1ENSG00000151092ENST00000428257p.T553Ic.1658C>TSubstitution - Missense
VPS8ENSG00000156931ENST00000287546p.R187*c.559C>TSubstitution - Nonsense
SLMAPENSG00000163681ENST00000428312p.?c.520-2A>GUnknown
FLNBENSG00000136068ENST00000357272p.D978Dc.2934C>TSubstitution - coding silent
PRKCDENSG00000163932ENST00000394729p.?c.1415+4C>TUnknown
ITIH4ENSG00000055955ENST00000346281p.L802Lc.2404C>TSubstitution - coding silent
TTC29ENSG00000137473ENST00000513335p.Y90Yc.270C>TSubstitution - coding silent
INPP4BENSG00000109452ENST00000513000p.V605Mc.1813G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.P2902Rc.8705C>GSubstitution - Missense
EIF4G3ENSG00000075151ENST00000411888p.Q121fs*43c.361delCDeletion - Frameshift
WHSC1ENSG00000109685ENST00000382888p.P691fs*>23c.2065delCDeletion - Frameshift
GNLYENSG00000115523ENST00000409696p.R89Cc.265C>TSubstitution - Missense
PVRENSG00000073008ENST00000406449p.C123Yc.368G>ASubstitution - Missense
SIKE1ENSG00000052723ENST00000369528p.N91Nc.273C>TSubstitution - coding silent
PKD2L2ENSG00000078795ENST00000508883p.R527Kc.1580G>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000379249p.G278Sc.832G>ASubstitution - Missense
ZNF131ENSG00000172262ENST00000399534p.R222Cc.664C>TSubstitution - Missense
MED23ENSG00000112282ENST00000403834p.N1095Nc.3285C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.L5267Lc.15801G>ASubstitution - coding silent
NUP153ENSG00000124789ENST00000537253p.V1485Mc.4453G>ASubstitution - Missense
SCAF8ENSG00000213079ENST00000367186p.V109Mc.325G>ASubstitution - Missense
SCUBE3ENSG00000146197ENST00000394681p.H170Hc.510C>TSubstitution - coding silent
EHMT2ENSG00000204371ENST00000395728p.R930Cc.2788C>TSubstitution - Missense
TDP2ENSG00000111802ENST00000545995p.S131Nc.392G>ASubstitution - Missense
TDP2ENSG00000111802ENST00000341060p.S43Nc.128G>ASubstitution - Missense
ZNF318ENSG00000171467ENST00000318149p.L339Lc.1015C>TSubstitution - coding silent
PRICKLE4ENSG00000124593ENST00000359201p.?c.133-5C>AUnknown
DNAH8ENSG00000124721ENST00000449981p.L436Lc.1308G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.R2892Qc.8675G>ASubstitution - Missense
SLC12A9ENSG00000146828ENST00000540482p.S575Sc.1725G>ASubstitution - coding silent
ABCB8ENSG00000197150ENST00000356058p.C297Yc.890G>ASubstitution - Missense
COBLENSG00000106078ENST00000395542p.T241Ic.722C>TSubstitution - Missense
GCKENSG00000106633ENST00000395796p.S335Sc.1005G>ASubstitution - coding silent
TESK2ENSG00000070759ENST00000372086p.A536Vc.1607C>TSubstitution - Missense
MAST2ENSG00000086015ENST00000372008p.R183Qc.548G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.R581Hc.1742G>ASubstitution - Missense
BMP8BENSG00000116985ENST00000397360p.?c.944-3C>TUnknown
STK40ENSG00000196182ENST00000373130p.Q69Qc.207G>ASubstitution - coding silent
LPHN2ENSG00000117114ENST00000370721p.L49Lc.147G>ASubstitution - coding silent
NEXNENSG00000162614ENST00000457030p.M77Ic.231G>ASubstitution - Missense
MIER1ENSG00000198160ENST00000371014p.A154Vc.461C>TSubstitution - Missense
HEATR5AENSG00000129493ENST00000404677p.F25Ic.73T>ASubstitution - Missense
CPNE6ENSG00000100884ENST00000537691p.C383Yc.1148G>ASubstitution - Missense
C14orf80ENSG00000185347ENST00000329886p.P85Pc.255C>TSubstitution - coding silent
C14orf80ENSG00000185347ENST00000392523p.P124Pc.372C>TSubstitution - coding silent
NINENSG00000100503ENST00000453196p.Q1982Rc.5945A>GSubstitution - Missense
TPM1ENSG00000140416ENST00000403994p.C190Sc.569G>CSubstitution - Missense
LINSENSG00000140471ENST00000561308p.C174Yc.521G>ASubstitution - Missense
BAIAP3ENSG00000007516ENST00000397488p.L434Lc.1302G>ASubstitution - coding silent
PDXDC1ENSG00000179889ENST00000455313p.A181Vc.542C>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.P21Lc.62C>TSubstitution - Missense
MAPK3ENSG00000102882ENST00000403394p.R67Rc.201C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000325215p.?c.2173-1G>AUnknown
ATXN2LENSG00000168488ENST00000340394p.?c.2173-1G>AUnknown
IGFALSENSG00000099769ENST00000415638p.S188Sc.564G>ASubstitution - coding silent
C16orf62ENSG00000103544ENST00000448695p.D777Nc.2329G>ASubstitution - Missense
SLC5A10ENSG00000154025ENST00000317977p.Q402*c.1204C>TSubstitution - Nonsense
SREBF1ENSG00000072310ENST00000338854p.L140Lc.420G>ASubstitution - coding silent
FBXW10ENSG00000171931ENST00000308799p.I817Tc.2450T>CSubstitution - Missense
SLC12A4ENSG00000124067ENST00000541864p.T116Ic.347C>TSubstitution - Missense
USP6ENSG00000129204ENST00000304328p.C1031Yc.3092G>ASubstitution - Missense
CAMTA2ENSG00000108509ENST00000414043p.G698Dc.2093G>ASubstitution - Missense
LUC7L3ENSG00000108848ENST00000544170p.V125Ic.373G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.T355Ic.1064C>TSubstitution - Missense
GJD3ENSG00000183153ENST00000337376p.T39Tc.117G>ASubstitution - coding silent
ZNF207ENSG00000010244ENST00000394670p.H441Pc.1322A>CSubstitution - Missense
EXOC7ENSG00000182473ENST00000335146p.K657Kc.1971G>ASubstitution - coding silent
RECQL5ENSG00000108469ENST00000317905p.A721Tc.2161G>ASubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.T611Mc.1832C>TSubstitution - Missense
AKAP1ENSG00000121057ENST00000314126p.R124Hc.371G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.V585Mc.1753G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.A2827Tc.8479G>ASubstitution - Missense
TSHZ1ENSG00000179981ENST00000580243p.S139Lc.416C>TSubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.A440Tc.1318G>ASubstitution - Missense
NDUFA13ENSG00000186010ENST00000512771p.?c.425+7G>AUnknown
MAST3ENSG00000099308ENST00000262811p.A610Tc.1828G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000300971p.?c.149-4G>AUnknown
ENST00000326873_v70p.P281Pc.843G>ASubstitution - coding silent
SPTBN4ENSG00000160460ENST00000344104p.L373Fc.1117C>TSubstitution - Missense
PAF1ENSG00000006712ENST00000595564p.R344Wc.1030C>TSubstitution - Missense
C19orf33ENSG00000167644ENST00000588605p.M1Ic.3G>ASubstitution - Missense
WDR62ENSG00000075702ENST00000388999p.C312Yc.935G>ASubstitution - Missense
ZFP14ENSG00000142065ENST00000270001p.Q469Qc.1407A>GSubstitution - coding silent
LILRB3ENSG00000204577ENST00000346401p.R480Cc.1438C>TSubstitution - Missense
ENST00000391816p.Q97Rc.290A>GSubstitution - Missense
MPNDENSG00000008382ENST00000359935p.A203Tc.607G>ASubstitution - Missense
SLC25A23ENSG00000125648ENST00000334510p.G390Sc.1168G>ASubstitution - Missense
SLC25A23ENSG00000125648ENST00000334510p.R81Hc.242G>ASubstitution - Missense
RPL28ENSG00000108107ENST00000560583p.R94Kc.281G>ASubstitution - Missense
EPN1ENSG00000063245ENST00000411543p.?c.1523-1G>AUnknown
NLRP9ENSG00000185792ENST00000590200p.H884Hc.2652C>TSubstitution - coding silent
PLTPENSG00000100979ENST00000542937p.?c.1343-3C>TUnknown
ENST00000537425_v68p.V121Mc.361G>ASubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.?c.1163-3C>TUnknown
ATP5JENSG00000154723ENST00000457143p.Y58Yc.174C>TSubstitution - coding silent
PLCB4ENSG00000101333ENST00000378473p.E12Kc.34G>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.Q326*c.976C>TSubstitution - Nonsense
PRTFDC1ENSG00000099256ENST00000320152p.?c.340-3C>TUnknown
RAB11FIP2ENSG00000107560ENST00000369199p.E327Ec.981A>GSubstitution - coding silent
AFAP1L2ENSG00000169129ENST00000545353p.?c.2117-4G>AUnknown
ENST00000454161p.?c.2796-6G>AUnknown
CAMK2GENSG00000148660ENST00000322635p.T37Tc.111G>ASubstitution - coding silent
ENST00000373120p.P294Hc.881C>ASubstitution - Missense
MYOFENSG00000138119ENST00000371501p.P239Pc.717T>CSubstitution - coding silent
IDEENSG00000119912ENST00000436178p.L100Ic.298C>ASubstitution - Missense
CYP26A1ENSG00000095596ENST00000224356p.S145Nc.434G>ASubstitution - Missense
TNNT3ENSG00000130595ENST00000381579p.D49Yc.145G>TSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.Q933*c.2797C>TSubstitution - Nonsense
TRIM49BENSG00000182053ENST00000332682p.G334Gc.1002G>TSubstitution - coding silent
PTPRJENSG00000149177ENST00000440289p.A419Tc.1255G>ASubstitution - Missense
CELF1ENSG00000149187ENST00000395292p.P55Pc.165G>ASubstitution - coding silent
OR52E2ENSG00000176787ENST00000321522p.K82Kc.246G>ASubstitution - coding silent
NM_032681.1p.G46Gc.138C>TSubstitution - coding silent
OR4C6ENSG00000181903ENST00000314259p.A214Vc.641C>TSubstitution - Missense
APLNRENSG00000134817ENST00000257254p.S27Pc.79T>CSubstitution - Missense
TRIM6ENSG00000121236ENST00000380097p.C503Yc.1508G>ASubstitution - Missense
ESRRAENSG00000173153ENST00000405666p.?c.742+2T>CUnknown
UBXN1ENSG00000162191ENST00000301935p.A79Vc.236C>TSubstitution - Missense
SESN3ENSG00000149212ENST00000416495p.L72Qc.215T>ASubstitution - Missense
CYB5R2ENSG00000166394ENST00000524790p.S174Nc.521G>ASubstitution - Missense
ANO1ENSG00000131620ENST00000316296p.?c.1607-4C>TUnknown
SPTBN2ENSG00000173898ENST00000529997p.V1187Mc.3559G>ASubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.E1055Dc.3165G>TSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.Q943Qc.2829G>ASubstitution - coding silent
CCDC65ENSG00000139537ENST00000266984p.F175Fc.525C>TSubstitution - coding silent
FOXJ2ENSG00000065970ENST00000428177p.Q192*c.574C>TSubstitution - Nonsense
SMARCC2ENSG00000139613ENST00000394023p.?c.1864-3C>TUnknown
NBEAENSG00000172915ENST00000400445p.V1611Ic.4831G>ASubstitution - Missense
MCF2LENSG00000126217ENST00000423482p.L766Lc.2296C>TSubstitution - coding silent
MCF2LENSG00000126217ENST00000434480p.L774Lc.2320C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000251041p.D66Ec.198C>ASubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.A908Tc.2722G>ASubstitution - Missense
BIVMENSG00000134897ENST00000448849p.D152Nc.454G>ASubstitution - Missense
AMPD2ENSG00000116337ENST00000393688p.R258Hc.773G>ASubstitution - Missense
WDR47ENSG00000085433ENST00000400794p.Q901Qc.2703G>ASubstitution - coding silent
SLC35A3ENSG00000117620ENST00000370153p.C96Cc.288C>TSubstitution - coding silent
PTCHD2ENSG00000204624ENST00000389575p.N106Nc.318C>TSubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000315174p.R50Rc.150C>TSubstitution - coding silent
LMNAENSG00000160789ENST00000392353p.R358Rc.1074C>TSubstitution - coding silent
ZBTB17ENSG00000116809ENST00000375733p.R625Wc.1873C>TSubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367995p.A187Tc.559G>ASubstitution - Missense
ENST00000367531p.G638Rc.1912G>ASubstitution - Missense
CD55ENSG00000196352ENST00000391920p.Y133*c.399C>GSubstitution - Nonsense
KLHL12ENSG00000117153ENST00000435533p.R86Wc.256C>TSubstitution - Missense
PTPN7ENSG00000143851ENST00000309017p.V428Mc.1282G>ASubstitution - Missense
PTPN7ENSG00000143851ENST00000309017p.R326Hc.977G>ASubstitution - Missense
DDX59ENSG00000118197ENST00000367348p.V451Mc.1351G>ASubstitution - Missense
DDX59ENSG00000118197ENST00000367348p.R300Rc.900C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375267p.D784Dc.2352C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.R5140Hc.15419G>ASubstitution - Missense
NSL1ENSG00000117697ENST00000422588p.Q58*c.172C>TSubstitution - Nonsense
RPS6KC1ENSG00000136643ENST00000543354p.A446Tc.1336G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000356916p.C462Cc.1386C>TSubstitution - coding silent
ENSG00000143674ENST00000366623p.A305Tc.913G>ASubstitution - Missense
TLR5ENSG00000187554ENST00000366881p.L727Pc.2180T>CSubstitution - Missense
RAP1GAPENSG00000076864ENST00000542643p.A585Vc.1754C>TSubstitution - Missense
SERINC2ENSG00000168528ENST00000373710p.A262Tc.784G>ASubstitution - Missense
SH3BP5LENSG00000175137ENST00000411742p.Q70Qc.210G>ASubstitution - coding silent
ZNF496ENSG00000162714ENST00000366498p.T279Tc.837T>GSubstitution - coding silent
MYOM3ENSG00000142661ENST00000329601p.P395Pc.1185G>ASubstitution - coding silent
PLD5ENSG00000180287ENST00000427495p.T291Kc.872C>ASubstitution - Missense
FAM129BENSG00000136830ENST00000373314p.Q282Qc.846G>ASubstitution - coding silent
C9orf117ENSG00000160401ENST00000373295p.S387Nc.1160G>ASubstitution - Missense
LRSAM1ENSG00000148356ENST00000373322p.?c.175-3C>TUnknown
TOR1BENSG00000136816ENST00000259339p.L243Lc.727C>TSubstitution - coding silent
NUP188ENSG00000095319ENST00000372577p.R1130Hc.3389G>ASubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.L596Lc.1786C>TSubstitution - coding silent
HTR3CENSG00000178084ENST00000318351p.T64Nc.191C>ASubstitution - Missense
POMT1ENSG00000130714ENST00000372228p.H405Hc.1215C>TSubstitution - coding silent
KLHL6ENSG00000172578ENST00000341319p.?c.1147+9G>AUnknown
NUP214ENSG00000126883ENST00000359428p.R2089*c.6265C>TSubstitution - Nonsense
LAMC3ENSG00000050555ENST00000361069p.G944Gc.2832C>ASubstitution - coding silent
ABL1ENSG00000097007ENST00000318560p.?c.1424-1G>TUnknown
EPHB3ENSG00000182580ENST00000330394p.A332Ac.996G>ASubstitution - coding silent
ECE2ENSG00000145194ENST00000357474p.R703Hc.2108G>ASubstitution - Missense
ECE2ENSG00000145194ENST00000359140p.R628Hc.1883G>ASubstitution - Missense
XXYLT1ENSG00000173950ENST00000310380p.L246Lc.738G>ASubstitution - coding silent
LRRC15ENSG00000172061ENST00000347624p.L103Lc.309G>ASubstitution - coding silent
GP5ENSG00000178732ENST00000323007p.R107Cc.319C>TSubstitution - Missense
LRRC15ENSG00000172061ENST00000439944p.L109Lc.327G>ASubstitution - coding silent
ATP13A4ENSG00000127249ENST00000342695p.?c.61-7G>AUnknown
TKTL2ENSG00000151005ENST00000280605p.S75Sc.225C>TSubstitution - coding silent
TACC3ENSG00000013810ENST00000313288p.S697Sc.2091C>TSubstitution - coding silent
GABRPENSG00000094755ENST00000518525p.Q235Qc.705G>ASubstitution - coding silent
SLIT3ENSG00000184347ENST00000519560p.R154Rc.462C>TSubstitution - coding silent
CDHR2ENSG00000074276ENST00000261944p.Q771Qc.2313G>ASubstitution - coding silent
PRR7ENSG00000131188ENST00000323249p.A191Ec.572C>ASubstitution - Missense
SKIV2L2ENSG00000039123ENST00000230640p.C170Cc.510C>TSubstitution - coding silent
NM_002203.2p.C1050Yc.3149G>ASubstitution - Missense
ADAMTS6ENSG00000049192ENST00000381055p.L985Lc.2955G>ASubstitution - coding silent
ADAMTS6ENSG00000049192ENST00000381055p.Q674Qc.2022G>ASubstitution - coding silent
DEPDC1BENSG00000035499ENST00000265036p.L329Lc.985C>TSubstitution - coding silent
EHMT2ENSG00000204371ENST00000375537p.K796Kc.2388G>ASubstitution - coding silent
LY6G6FENSG00000204424ENST00000375832p.T40Sc.119C>GSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.R2170Qc.6509G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.Q1714Qc.5142G>ASubstitution - coding silent
TNXBENSG00000168477ENST00000375244p.Q1627Qc.4881G>ASubstitution - coding silent
WDR46ENSG00000227057ENST00000374617p.Q586Qc.1758G>ASubstitution - coding silent
RING1ENSG00000204227ENST00000374656p.Q26*c.76C>TSubstitution - Nonsense
RING1ENSG00000204227ENST00000374656p.?c.456-9C>TUnknown
COL11A2ENSG00000204248ENST00000341947p.A1568Tc.4702G>ASubstitution - Missense
PSMB9ENSG00000240065ENST00000453265p.G121Gc.363C>TSubstitution - coding silent
ZNF318ENSG00000171467ENST00000361428p.L339Lc.1015C>TSubstitution - coding silent
SLC22A7ENSG00000137204ENST00000372585p.L77Fc.229C>TSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.Q2224*c.6670C>TSubstitution - Nonsense
SCUBE3ENSG00000146197ENST00000274938p.H170Hc.510C>TSubstitution - coding silent
RUNX2ENSG00000124813ENST00000352853p.?c.1225+9C>TUnknown
RUNX2ENSG00000124813ENST00000465038p.?c.1021+9C>TUnknown
SPATS1ENSG00000249481ENST00000288390p.S21Nc.62G>ASubstitution - Missense
SPATS1ENSG00000249481ENST00000323108p.S21Nc.62G>ASubstitution - Missense
IL17AENSG00000112115ENST00000340057p.L135Lc.403C>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.V3868Mc.11602G>ASubstitution - Missense
ABL2ENSG00000143322ENST00000392043p.A422Tc.1264G>ASubstitution - Missense
FARS2ENSG00000145982ENST00000324331p.Q297*c.889C>TSubstitution - Nonsense
GSTA5ENSG00000182793ENST00000370989p.L191Lc.573G>ASubstitution - coding silent
ITGB3ENSG00000259207ENST00000559488p.D653Nc.1957G>ASubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.A944Ac.2832T>GSubstitution - coding silent
TJAP1ENSG00000137221ENST00000372445p.R355Hc.1064G>ASubstitution - Missense
AOC1ENSG00000002726ENST00000416793p.T689Mc.2066C>TSubstitution - Missense
PKD2L2ENSG00000078795ENST00000508883p.R137Hc.410G>ASubstitution - Missense
PLXNB3ENSG00000198753ENST00000538282p.C262Cc.786C>TSubstitution - coding silent
ENST00000325103_v70p.T677Ic.2030C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
UPF1ENSG00000005007ENST00000599848p.T548Mc.1643C>TSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.V1715Mc.5143G>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.H2129Hc.6387C>TSubstitution - coding silent
ENST00000251268_v61p.H2196Hc.6588C>TSubstitution - coding silent
PAFAH1B3ENSG00000079462ENST00000262890p.P140Pc.420G>ASubstitution - coding silent
ZNF526ENSG00000167625ENST00000301215p.C392Cc.1176C>TSubstitution - coding silent
ERFENSG00000105722ENST00000222329p.G407Gc.1221C>TSubstitution - coding silent
GRIK5ENSG00000105737ENST00000301218p.R927Hc.2780G>ASubstitution - Missense
SMG9ENSG00000105771ENST00000270066p.R75Wc.223C>TSubstitution - Missense
R3HDMLENSG00000101074ENST00000217043p.Q119*c.355C>TSubstitution - Nonsense
ADRA1DENSG00000171873ENST00000379453p.S332Lc.995C>TSubstitution - Missense
ARHGAP15ENSG00000075884ENST00000295095p.E115fs*14c.343delGDeletion - Frameshift
KYNUENSG00000115919ENST00000264170p.P108fs*10c.322delCDeletion - Frameshift
KYNUENSG00000115919ENST00000375773p.P108fs*10c.322delCDeletion - Frameshift
NCOA3ENSG00000124151ENST00000371998p.Q1213Qc.3639G>ASubstitution - coding silent
NEBENSG00000183091ENST00000427231p.T2109Ic.6326C>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.T2109Ic.6326C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.T2109Ic.6326C>TSubstitution - Missense
PKP4ENSG00000144283ENST00000389759p.L622Lc.1864C>TSubstitution - coding silent
GPD2ENSG00000115159ENST00000310454p.?c.2059-8T>CUnknown
EVCENSG00000072840ENST00000264956p.C204Cc.612C>TSubstitution - coding silent
KIAA1211ENSG00000109265ENST00000264229p.C451Yc.1352G>ASubstitution - Missense
LNX1ENSG00000072201ENST00000306888p.C556Cc.1668C>TSubstitution - coding silent
CENPCENSG00000145241ENST00000273853p.?c.2291-1G>AUnknown
ACTR3BENSG00000133627ENST00000256001p.R209Kc.626G>ASubstitution - Missense
ELFN1ENSG00000225968ENST00000424383p.N210Nc.630C>TSubstitution - coding silent
WDR60ENSG00000126870ENST00000407559p.K529Kc.1587G>ASubstitution - coding silent
ENST00000400460p.T274Ac.820A>GSubstitution - Missense
ENST00000400460p.T297Mc.890C>TSubstitution - Missense
ZNF70ENSG00000187792ENST00000341976p.C394Sc.1180T>ASubstitution - Missense
RAB36ENSG00000100228ENST00000263116p.V128Vc.384G>ASubstitution - coding silent
PPIL2ENSG00000100023ENST00000335025p.?c.244-3C>TUnknown
HIC2ENSG00000169635ENST00000407464p.A283Tc.847G>ASubstitution - Missense
P2RX6ENSG00000099957ENST00000336296p.A248Vc.743C>TSubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.M523Ic.1569G>ASubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.Q91*c.271C>TSubstitution - Nonsense
KCNH7ENSG00000184611ENST00000332142p.A870Vc.2609C>TSubstitution - Missense
SLC4A10ENSG00000144290ENST00000446997p.?c.1752-7C>TUnknown
SLC4A10ENSG00000144290ENST00000375514p.?c.1695-7C>TUnknown
SLC4A10ENSG00000144290ENST00000415876p.?c.1662-7C>TUnknown
PPIGENSG00000138398ENST00000260970p.Q367*c.1099C>TSubstitution - Nonsense
FASTKD1ENSG00000138399ENST00000453153p.K785Kc.2355A>GSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.E2358Qc.7072G>CSubstitution - Missense
MTSS1ENSG00000170873ENST00000518547p.T622Tc.1866C>TSubstitution - coding silent
MTSS1ENSG00000170873ENST00000518547p.K612Kc.1836G>ASubstitution - coding silent
FER1L6ENSG00000214814ENST00000399018p.V58Ic.172G>ASubstitution - Missense
FBXO32ENSG00000156804ENST00000517956p.C332Cc.996C>TSubstitution - coding silent
HHLA1ENSG00000132297ENST00000414222p.L102Lc.304C>TSubstitution - coding silent
ZFATENSG00000066827ENST00000377838p.P97Lc.290C>TSubstitution - Missense
ENST00000398946p.P85Lc.254C>TSubstitution - Missense
ENST00000355850p.G4Rc.10G>ASubstitution - Missense
SLC45A4ENSG00000022567ENST00000024061p.R307Hc.920G>ASubstitution - Missense
GSNENSG00000148180ENST00000373823p.T694Tc.2082C>TSubstitution - coding silent
CNTRLENSG00000119397ENST00000373855p.?c.3052-4G>AUnknown
C5ENSG00000106804ENST00000223642p.G548Rc.1642G>ASubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.H1445Hc.4335T>CSubstitution - coding silent
TLR4ENSG00000136869ENST00000355622p.S790fs*>50c.2369delGDeletion - Frameshift
GOLGA1ENSG00000136935ENST00000373555p.H236Nc.706C>ASubstitution - Missense
CRB2ENSG00000148204ENST00000373631p.A1211Ac.3633G>ASubstitution - coding silent
RC3H2ENSG00000056586ENST00000373670p.P631Pc.1893C>TSubstitution - coding silent
RC3H2ENSG00000056586ENST00000423239p.K1041Kc.3123G>ASubstitution - coding silent
SLC27A4ENSG00000167114ENST00000300456p.L29Lc.85C>TSubstitution - coding silent
SLC27A4ENSG00000167114ENST00000300456p.S197Sc.591G>ASubstitution - coding silent
LCN2ENSG00000148346ENST00000277480p.R174Hc.521G>ASubstitution - Missense
AK1ENSG00000106992ENST00000373176p.?c.8-3C>TUnknown
SH2D3CENSG00000095370ENST00000314830p.P453Pc.1359C>TSubstitution - coding silent
SLC4A9ENSG00000113073ENST00000230993p.S964Nc.2891G>ASubstitution - Missense
SLC4A9ENSG00000113073ENST00000506757p.S940Nc.2819G>ASubstitution - Missense
PSD2ENSG00000146005ENST00000274710p.E470Ec.1410G>ASubstitution - coding silent
FAM53CENSG00000120709ENST00000239906p.Q351*c.1051C>TSubstitution - Nonsense
PCDHA4ENSG00000204967ENST00000530339p.G546Dc.1637G>ASubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.R462Hc.1385G>ASubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.S720Sc.2160G>ASubstitution - coding silent
CYFIP2ENSG00000055163ENST00000318218p.A595Vc.1784C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000377576p.A570Vc.1709C>TSubstitution - Missense
SGCDENSG00000170624ENST00000337851p.P247Sc.739C>TSubstitution - Missense
RNF145ENSG00000145860ENST00000274542p.?c.269-1G>TUnknown
SCAND3ENSG00000232040ENST00000452236p.A215Vc.644C>TSubstitution - Missense
OR2H1ENSG00000204688ENST00000377132p.C125Cc.375C>TSubstitution - coding silent
DDR1ENSG00000204580ENST00000376575p.Q755*c.2263C>TSubstitution - Nonsense
DDR1ENSG00000204580ENST00000324771p.Q749*c.2245C>TSubstitution - Nonsense
TRIM39ENSG00000204599ENST00000376656p.R430Wc.1288C>TSubstitution - Missense
TRIM26ENSG00000234127ENST00000454678p.Q508*c.1522C>TSubstitution - Nonsense
TRIM26ENSG00000234127ENST00000453195p.Q508*c.1522C>TSubstitution - Nonsense
HLA-CENSG00000204525ENST00000383329p.T187Kc.560C>ASubstitution - Missense
ENST00000539307p.T224Kc.671C>ASubstitution - Missense
NAMPTENSG00000105835ENST00000222553p.T233Mc.698C>TSubstitution - Missense
ATXN7L1ENSG00000146776ENST00000388807p.P491Pc.1473G>ASubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.A9Ac.27C>TSubstitution - coding silent
TAS2R40ENSG00000221937ENST00000408947p.M200Ic.600G>TSubstitution - Missense
TAS2R40ENSG00000221937ENST00000408947p.M200Ic.600G>TSubstitution - Missense
OR2A7ENSG00000243896ENST00000493325p.S49Sc.147A>TSubstitution - coding silent
OR2A7ENSG00000243896ENST00000493325p.S49Sc.147A>TSubstitution - coding silent
TAS2R41ENSG00000221855ENST00000408916p.I276Tc.827T>CSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.?c.939+8T>AUnknown
ASIC3ENSG00000213199ENST00000357922p.T178Tc.534G>ASubstitution - coding silent
OGDHENSG00000105953ENST00000543843p.Y674Yc.2022C>TSubstitution - coding silent
ZMIZ2ENSG00000122515ENST00000309315p.N344Nc.1032C>TSubstitution - coding silent
DDCENSG00000132437ENST00000380984p.P35Pc.105C>GSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.V4646Mc.13936G>ASubstitution - Missense
ENST00000319379p.V4591Mc.13771G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.V4246Ac.12737T>CSubstitution - Missense
ENST00000275579p.T213Ic.638C>TSubstitution - Missense
COBLENSG00000106078ENST00000265136p.T241Ic.722C>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.R2202Cc.6604C>TSubstitution - Missense
GAL3ST4ENSG00000197093ENST00000360039p.V343Ic.1027G>ASubstitution - Missense
MCM7ENSG00000166508ENST00000303887p.?c.1848+6T>GUnknown
MCM7ENSG00000166508ENST00000354230p.?c.1320+6T>GUnknown
AZGP1ENSG00000160862ENST00000292401p.V282Mc.844G>ASubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.T340Tc.1020C>TSubstitution - coding silent
DCAF13ENSG00000164934ENST00000297579p.S551Sc.1653T>CSubstitution - coding silent
GRHL2ENSG00000083307ENST00000251808p.S196Sc.588G>ASubstitution - coding silent
RGS22ENSG00000132554ENST00000360863p.V108Ic.322G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.?c.1337-1G>AUnknown
RIMS2ENSG00000176406ENST00000436393p.?c.1247-1G>AUnknown
RIMS2ENSG00000176406ENST00000507740p.?c.1337-1G>AUnknown
DDX19BENSG00000157349ENST00000288071p.V281Mc.841G>ASubstitution - Missense
DDX19BENSG00000157349ENST00000288071p.V281Mc.841G>ASubstitution - Missense
AARSENSG00000090861ENST00000261772p.V549Ac.1646T>CSubstitution - Missense
MARVELD3ENSG00000140832ENST00000268485p.G370Gc.1110C>TSubstitution - coding silent
PALB2ENSG00000083093ENST00000261584p.C891Cc.2673C>TSubstitution - coding silent
ABCA3ENSG00000167972ENST00000301732p.E1622Gc.4865A>GSubstitution - Missense
SCNN1BENSG00000168447ENST00000343070p.V85Ic.253G>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.Q1525Qc.4575G>ASubstitution - coding silent
EMR3ENSG00000131355ENST00000253673p.F254fs*12c.762delTDeletion - Frameshift
ATP1A3ENSG00000105409ENST00000302102p.C364Cc.1092C>TSubstitution - coding silent
ATP1A3ENSG00000105409ENST00000302102p.I318Ic.954C>TSubstitution - coding silent
SLC27A1ENSG00000130304ENST00000442725p.R433Wc.1297C>TSubstitution - Missense
FAM129CENSG00000167483ENST00000332386p.?c.149-4G>AUnknown
USHBP1ENSG00000130307ENST00000252597p.?c.1047-2A>GUnknown
PCDHGA12ENSG00000253159ENST00000252085p.R92Wc.274C>TSubstitution - Missense
ARHGAP26ENSG00000145819ENST00000274498p.S618Sc.1854C>TSubstitution - coding silent
PCDH12ENSG00000113555ENST00000231484p.I592Ic.1776C>TSubstitution - coding silent
PCDHGA11ENSG00000253873ENST00000398587p.R10Rc.30C>TSubstitution - coding silent
SPINK5ENSG00000133710ENST00000359874p.V289Ic.865G>ASubstitution - Missense
SPINK5ENSG00000133710ENST00000256084p.V289Ic.865G>ASubstitution - Missense
POU4F3ENSG00000091010ENST00000230732p.D207Dc.621C>TSubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.R1234Wc.3700C>TSubstitution - Missense
SLC26A2ENSG00000155850ENST00000286298p.K73Kc.219G>ASubstitution - coding silent
ENST00000421549p.?c.3024-8G>AUnknown
CSNK1A1ENSG00000113712ENST00000515768p.?c.124-3C>TUnknown
CSNK1A1ENSG00000113712ENST00000377843p.?c.124-3C>TUnknown
HTR4ENSG00000164270ENST00000314512p.T97Ic.290C>TSubstitution - Missense
OBP2BENSG00000171102ENST00000372034p.T84Tc.252G>ASubstitution - coding silent
OBP2BENSG00000171102ENST00000372032p.G40Rc.118G>ASubstitution - Missense
SURF4ENSG00000148248ENST00000371989p.?c.49-4G>AUnknown
GBGT1ENSG00000148288ENST00000372040p.S188Nc.563G>ASubstitution - Missense
AK8ENSG00000165695ENST00000298545p.L50Lc.150G>ASubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.L50Lc.150G>ASubstitution - coding silent
PDGFRBENSG00000113721ENST00000261799p.G363Gc.1089C>TSubstitution - coding silent
POMT1ENSG00000130714ENST00000372220p.H328Yc.982C>TSubstitution - Missense
C9orf116ENSG00000160345ENST00000429260p.R95Qc.284G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.H215Hc.645C>TSubstitution - coding silent
LCN8ENSG00000204001ENST00000371688p.A73Tc.217G>ASubstitution - Missense
CARD9ENSG00000187796ENST00000371732p.R57Hc.170G>ASubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.C592Cc.1776C>TSubstitution - coding silent
LCN8ENSG00000204001ENST00000371688p.R94Wc.280C>TSubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.E150Qc.448G>CSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.T686Ic.2057C>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R698Hc.2093G>ASubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R698Hc.2093G>ASubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.L431Lc.1293G>ASubstitution - coding silent
FBXO27ENSG00000161243ENST00000292853p.H236Hc.708C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.I2603Vc.7807A>GSubstitution - Missense
CYP2F1ENSG00000197446ENST00000331105p.?c.172-8A>GUnknown
CYP2F1ENSG00000197446ENST00000331105p.A344Tc.1030G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.L373Fc.1117C>TSubstitution - Missense
ANKRD24ENSG00000089847ENST00000318934p.E401Kc.1201G>ASubstitution - Missense
ANKRD24ENSG00000089847ENST00000262970p.E491Kc.1471G>ASubstitution - Missense
ANKRD24ENSG00000089847ENST00000262970p.?c.808-1G>AUnknown
ENST00000262969p.?c.214-1G>AUnknown
BBS9ENSG00000122507ENST00000354265p.S478Sc.1434T>CSubstitution - coding silent
AEBP1ENSG00000106624ENST00000223357p.T936Ic.2807C>TSubstitution - Missense
POLD2ENSG00000106628ENST00000406581p.D168Dc.504C>TSubstitution - coding silent
BLVRAENSG00000106605ENST00000265523p.L279Lc.837G>ASubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.Q197*c.589C>TSubstitution - Nonsense
POU6F2ENSG00000106536ENST00000403058p.T567Ac.1699A>GSubstitution - Missense
SAGE1ENSG00000181433ENST00000324447p.T154Tc.462C>TSubstitution - coding silent
GCKENSG00000106633ENST00000403799p.S336Sc.1008G>ASubstitution - coding silent
PASD1ENSG00000166049ENST00000370357p.Q687*c.2059C>TSubstitution - Nonsense
PASD1ENSG00000166049ENST00000370357p.Q687*c.2059C>TSubstitution - Nonsense
PKD2L2ENSG00000078795ENST00000290431p.R527Kc.1580G>ASubstitution - Missense
PKD2L2ENSG00000078795ENST00000290431p.R137Hc.410G>ASubstitution - Missense
HCFC1ENSG00000172534ENST00000310441p.T1335Tc.4005C>TSubstitution - coding silent
NM_005334.1p.T1238Tc.3714C>TSubstitution - coding silent
PLXNB3ENSG00000198753ENST00000361971p.C652Cc.1956C>TSubstitution - coding silent
PNCKENSG00000130822ENST00000393831p.S129Nc.386G>ASubstitution - Missense
SU_CaMK1bp.S129Nc.386G>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.R741Rc.2223C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000263519p.R741Rc.2223C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000370186p.R727Rc.2181C>TSubstitution - coding silent
CD14ENSG00000170458ENST00000302014p.Q189*c.565C>TSubstitution - Nonsense
ENST00000230993_v65p.S964Nc.2891G>ASubstitution - Missense
TBL1XENSG00000101849ENST00000407597p.R576Qc.1727G>ASubstitution - Missense
TBL1XENSG00000101849ENST00000407597p.R576Qc.1727G>ASubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.A450Ac.1350C>TSubstitution - coding silent
GRIN3BENSG00000116032ENST00000234389p.R538Hc.1613G>ASubstitution - Missense
SOGA2ENSG00000168502ENST00000306285p.H962Hc.2886C>TSubstitution - coding silent
NFATC1ENSG00000131196ENST00000329101p.A301Vc.902C>TSubstitution - Missense
NFATC1ENSG00000131196ENST00000591814p.A314Vc.941C>TSubstitution - Missense
GALR1ENSG00000166573ENST00000299727p.V349Ac.1046T>CSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.?c.2175+5G>AUnknown
RAVER1ENSG00000161847ENST00000293677p.Q388Qc.1164G>ASubstitution - coding silent
ICAM5ENSG00000105376ENST00000221980p.?c.353-4G>AUnknown
ENST00000317726p.T27Tc.81G>ASubstitution - coding silent
SUN2ENSG00000100242ENST00000405510p.T204Tc.612C>TSubstitution - coding silent
IL2RBENSG00000100385ENST00000216223p.S221Sc.663C>TSubstitution - coding silent
ENTHD1ENSG00000176177ENST00000325157p.K464Kc.1392G>ASubstitution - coding silent
RPL3ENSG00000100316ENST00000216146p.G402*c.1204G>TSubstitution - Nonsense
RANGAP1ENSG00000100401ENST00000356244p.T409Tc.1227G>ASubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.G207Gc.621C>TSubstitution - coding silent
ENSG00000176515ENST00000314040p.Q8Rc.23A>GSubstitution - Missense
AK9ENSG00000155085ENST00000424296p.?c.4279+2_4279+3insGAGCUnknown
HS3ST5ENSG00000249853ENST00000312719p.Q121Rc.362A>GSubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.G651Gc.1953C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.?c.321+5G>AUnknown
DSTENSG00000151914ENST00000370754p.?c.855+5G>AUnknown
ENST00000370385p.R145Hc.434G>ASubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.S1133Sc.3399C>TSubstitution - coding silent
TRPS1ENSG00000104447ENST00000395715p.S1133Sc.3399C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.C1202Yc.3605G>ASubstitution - Missense
MOXD1ENSG00000079931ENST00000367963p.L608Lc.1822C>TSubstitution - coding silent
MED23ENSG00000112282ENST00000354577p.N1095Nc.3285C>TSubstitution - coding silent
ENSG00000272514ENST00000369562p.V590fs*21c.1764_1765insGInsertion - Frameshift
RARS2ENSG00000146282ENST00000369536p.T341Tc.1023A>GSubstitution - coding silent
BACH2ENSG00000112182ENST00000257749p.D8Nc.22G>ASubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.D8Nc.22G>ASubstitution - Missense
ASIC2ENSG00000108684ENST00000225823p.T546Sc.1637C>GSubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.Q163*c.487C>TSubstitution - Nonsense
SLFN12ENSG00000172123ENST00000394562p.L399Lc.1197G>ASubstitution - coding silent
ENSG00000262304ENST00000572705p.S6Nc.17G>ASubstitution - Missense
TRPV1ENSG00000196689ENST00000399756p.S6Nc.17G>ASubstitution - Missense
TTC7AENSG00000068724ENST00000319190p.L437Lc.1309C>TSubstitution - coding silent
PTRFENSG00000177469ENST00000357037p.L263Lc.789G>ASubstitution - coding silent
METTL3ENSG00000165819ENST00000377543p.S324Nc.971G>ASubstitution - Missense
KRT13ENSG00000171401ENST00000246635p.Q202Qc.606G>ASubstitution - coding silent
WNK4ENSG00000126562ENST00000246914p.A213Vc.638C>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.P638Pc.1914C>GSubstitution - coding silent
ITGA2BENSG00000005961ENST00000262407p.L539Lc.1615C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.S2214Sc.6642C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000354983p.S2180Sc.6540C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.S2214Sc.6642C>TSubstitution - coding silent
DGKEENSG00000153933ENST00000284061p.C152Cc.456C>TSubstitution - coding silent
USP6ENSG00000129204ENST00000250066p.C1348Yc.4043G>ASubstitution - Missense
BZRAP1ENSG00000005379ENST00000355701p.L370Lc.1110G>ASubstitution - coding silent
BZRAP1ENSG00000005379ENST00000343736p.Q89Qc.267G>ASubstitution - coding silent
BZRAP1ENSG00000005379ENST00000355701p.Q89Qc.267G>ASubstitution - coding silent
MPOENSG00000005381ENST00000340482p.A25Vc.74C>TSubstitution - Missense
MSI2ENSG00000153944ENST00000284073p.D55Dc.165T>CSubstitution - coding silent
THEGENSG00000105549ENST00000342640p.L91Lc.271C>TSubstitution - coding silent
ZNF529ENSG00000186020ENST00000334116p.T235Ic.704C>TSubstitution - Missense
ZNF529ENSG00000186020ENST00000334116p.T235Ic.704C>TSubstitution - Missense
CLIP3ENSG00000105270ENST00000360535p.?c.919-3C>TUnknown
C19orf33ENSG00000167644ENST00000301246p.M1Ic.3G>ASubstitution - Missense
MECOMENSG00000085276ENST00000264674p.S888Lc.2663C>TSubstitution - Missense
PLCL2ENSG00000154822ENST00000396755p.R371Hc.1112G>ASubstitution - Missense
PRKCIENSG00000163558ENST00000295797p.?c.1587+1G>AUnknown
GTF2IRD2BENSG00000174428ENST00000312575p.A627Dc.1880C>ASubstitution - Missense
EIF4HENSG00000106682ENST00000265753p.?c.607+5G>AUnknown
ENST00000419043p.G346Gc.1038C>TSubstitution - coding silent
ABHD11ENSG00000106077ENST00000222800p.K245Nc.735G>TSubstitution - Missense
NSMFENSG00000165802ENST00000371482p.R182Hc.545G>ASubstitution - Missense
NSMFENSG00000165802ENST00000371482p.?c.123+10G>AUnknown
CACNA1BENSG00000148408ENST00000371372p.F549Fc.1647C>TSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.H1526Hc.4578C>TSubstitution - coding silent
FAM154AENSG00000155875ENST00000380534p.M350Ic.1050G>ASubstitution - Missense
TEX11ENSG00000120498ENST00000374333p.A631Vc.1892C>TSubstitution - Missense
P2RY4ENSG00000186912ENST00000374519p.C346Cc.1038C>TSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.E649Kc.1945G>ASubstitution - Missense
XM_293293.1p.H138Dc.412C>GSubstitution - Missense
ELLENSG00000105656ENST00000262809p.Y513Yc.1539C>TSubstitution - coding silent
KCNN1ENSG00000105642ENST00000222249p.A158Tc.472G>ASubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.A158Tc.472G>ASubstitution - Missense
SLC5A5ENSG00000105641ENST00000222248p.L541Lc.1621C>TSubstitution - coding silent
NM_015965.3p.T227Tc.681G>ASubstitution - coding silent
MEF2BENSG00000213999ENST00000424583p.T204Mc.611C>TSubstitution - Missense
MEF2BNB-MEF2BENSG00000064489ENST00000444486p.T204Mc.611C>TSubstitution - Missense
NM_012116.2p.R455Ic.1364G>TSubstitution - Missense
ENST00000344519_v68p.K283Ec.847A>GSubstitution - Missense
ZNF66ENSG00000160229ENST00000425625p.K329Ec.985A>GSubstitution - Missense
FOXA3ENSG00000170608ENST00000302177p.G223Dc.668G>ASubstitution - Missense
TNFAIP8L1ENSG00000185361ENST00000327473p.L11Lc.33G>ASubstitution - coding silent
ERCC1ENSG00000012061ENST00000300853p.A266Ac.798A>GSubstitution - coding silent
FAM83EENSG00000105523ENST00000263266p.Q458*c.1372C>TSubstitution - Nonsense
ARRDC5ENSG00000205784ENST00000381781p.C326Yc.977G>ASubstitution - Missense
LIG1ENSG00000105486ENST00000263274p.?c.2677-4G>TUnknown
C5AR2ENSG00000134830ENST00000257267p.M118Ic.354G>CSubstitution - Missense
TULP2ENSG00000104804ENST00000221399p.R436Hc.1307G>ASubstitution - Missense
FGF21ENSG00000105550ENST00000222157p.P118Lc.353C>TSubstitution - Missense
ENST00000400752_v68p.R116Cc.346C>TSubstitution - Missense
RABEP2ENSG00000177548ENST00000358201p.L279Lc.837G>ASubstitution - coding silent
ATXN2LENSG00000168488ENST00000336783p.?c.2433+1G>AUnknown
C16orf93ENSG00000196118ENST00000543610p.?c.205-4G>AUnknown
SRCAPENSG00000080603ENST00000262518p.A2279Vc.6836C>TSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.Q490Qc.1470G>ASubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.?c.1816-3C>TUnknown
CLDN6ENSG00000184697ENST00000396925p.S190fs*>31c.567delGDeletion - Frameshift
TBC1D10BENSG00000169221ENST00000409939p.L596Lc.1788G>ASubstitution - coding silent
MAPK3ENSG00000102882ENST00000263025p.R67Rc.201C>TSubstitution - coding silent
CCDC74BENSG00000152076ENST00000392984p.S27Sc.81C>TSubstitution - coding silent
TUBA3EENSG00000152086ENST00000312988p.A278Tc.832G>ASubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.?c.5050-3C>TUnknown
ARHGEF4ENSG00000136002ENST00000326016p.Q444Rc.1331A>GSubstitution - Missense
ARHGEF4ENSG00000136002ENST00000392953p.Q444Rc.1331A>GSubstitution - Missense
TMEM39AENSG00000176142ENST00000319172p.D268Nc.802G>ASubstitution - Missense
ARHGAP31ENSG00000031081ENST00000264245p.Q1133*c.3397C>TSubstitution - Nonsense
LSM3ENSG00000170860ENST00000306024p.G91Gc.273C>TSubstitution - coding silent
TTC29ENSG00000137473ENST00000325106p.Y64Yc.192C>TSubstitution - coding silent
CC2D2AENSG00000048342ENST00000424120p.A447Vc.1340C>TSubstitution - Missense
FHDC1ENSG00000137460ENST00000260008p.L492Lc.1474C>TSubstitution - coding silent
CCDC110ENSG00000168491ENST00000307588p.?c.11-7G>AUnknown
ZNF608ENSG00000168916ENST00000306315p.?c.3705+9G>AUnknown
PCDH7ENSG00000169851ENST00000361762p.N106Nc.318C>TSubstitution - coding silent
NM_032457.1p.N106Nc.318C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.R394Rc.1182C>TSubstitution - coding silent
GRAMD3ENSG00000155324ENST00000285689p.Q5Rc.14A>GSubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.G83Gc.249G>ASubstitution - coding silent
FSTL4ENSG00000053108ENST00000265342p.D469Dc.1407C>TSubstitution - coding silent
CSF2ENSG00000164400ENST00000296871p.R84Wc.250C>TSubstitution - Missense
POF1BENSG00000124429ENST00000262753p.?c.958-4G>AUnknown
PCDH19ENSG00000165194ENST00000373034p.R383Cc.1147C>TSubstitution - Missense
SAP130ENSG00000136715ENST00000259235p.R837*c.2509C>TSubstitution - Nonsense
SU_SPEGp.G1860Gc.5580C>TSubstitution - coding silent
ZFAND2BENSG00000158552ENST00000444522p.A75Vc.224C>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.G509Gc.1527C>TSubstitution - coding silent
ENST00000396788p.G346Gc.1038C>TSubstitution - coding silent
STK36ENSG00000163482ENST00000295709p.L424Lc.1270C>TSubstitution - coding silent
AP1S3ENSG00000152056ENST00000423110p.A104Ac.312C>TSubstitution - coding silent
COL4A4ENSG00000081052ENST00000396625p.A1370Vc.4109C>TSubstitution - Missense
CUL3ENSG00000036257ENST00000264414p.?c.379-4G>AUnknown
MROH2AENSG00000185038ENST00000389758p.T175Ic.524C>TSubstitution - Missense
GIGYF2ENSG00000204120ENST00000409451p.Q573*c.1717C>TSubstitution - Nonsense
GIGYF2ENSG00000204120ENST00000373563p.Q643Qc.1929G>ASubstitution - coding silent
ECEL1ENSG00000171551ENST00000304546p.Q662Qc.1986G>ASubstitution - coding silent
ECEL1ENSG00000171551ENST00000304546p.P513Pc.1539G>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.G1857Gc.5571C>TSubstitution - coding silent
CLHC1ENSG00000162994ENST00000407122p.I521Mc.1563A>GSubstitution - Missense
C2orf73ENSG00000177994ENST00000398634p.H11Yc.31C>TSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.S126fs*8c.375_376insAInsertion - Frameshift
PUS10ENSG00000162927ENST00000316752p.S173Sc.519G>ASubstitution - coding silent
PCYOX1ENSG00000116005ENST00000433351p.L203Lc.609G>ASubstitution - coding silent
PARP15ENSG00000173200ENST00000464300p.?c.1573-3C>TUnknown
KALRNENSG00000160145ENST00000360013p.E827Gc.2480A>GSubstitution - Missense
RHOENSG00000163914ENST00000296271p.R135Wc.403C>TSubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.L1456Lc.4366C>TSubstitution - coding silent
KIAA1257ENSG00000114656ENST00000265068p.S20Sc.60C>ASubstitution - coding silent
KBTBD12ENSG00000187715ENST00000405109p.Y90Yc.270C>TSubstitution - coding silent
PLXND1ENSG00000004399ENST00000324093p.E1328Dc.3984G>TSubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.R1681Qc.5042G>ASubstitution - Missense
UPK3AENSG00000100373ENST00000216211p.G206Rc.616G>ASubstitution - Missense
FAM118AENSG00000100376ENST00000216214p.Q309Qc.927G>ASubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.Q1533Qc.4599G>ASubstitution - coding silent
IL17RELENSG00000188263ENST00000389983p.R320Cc.958C>TSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.R1309Rc.3927C>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000380817p.L1472Lc.4416G>ASubstitution - coding silent
DENND6BENSG00000205593ENST00000413817p.T323Tc.969G>ASubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.R1209Wc.3625C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.Y353Yc.1059C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000456211p.Y338Yc.1014C>TSubstitution - coding silent
SLC6A20ENSG00000163817ENST00000358525p.G193Gc.579C>TSubstitution - coding silent
SLC6A20ENSG00000163817ENST00000353278p.G193Gc.579C>TSubstitution - coding silent
LARS2ENSG00000011376ENST00000265537p.?c.2533-3C>TUnknown
COL7A1ENSG00000114270ENST00000328333p.R1068Hc.3203G>ASubstitution - Missense
CDC25AENSG00000164045ENST00000302506p.H491Hc.1473C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000302640p.Q1109*c.3325C>TSubstitution - Nonsense
SETD2ENSG00000181555ENST00000409792p.P2260Pc.6780G>ASubstitution - coding silent
SETD2ENSG00000181555ENST00000330022p.P1757Pc.5271G>ASubstitution - coding silent
ARIH2ENSG00000177479ENST00000356401p.?c.1326+6G>AUnknown
FKBP5ENSG00000096060ENST00000536438p.Q390*c.1168C>TSubstitution - Nonsense
DEF6ENSG00000023892ENST00000316637p.I206Ic.618C>ASubstitution - coding silent
TEAD3ENSG00000007866ENST00000338863p.E200Ec.600G>ASubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.L219Lc.657G>ASubstitution - coding silent
NM_001371.1p.L219Lc.657G>ASubstitution - coding silent
FAM50BENSG00000145945ENST00000380274p.A134Tc.400G>ASubstitution - Missense
TAF8ENSG00000137413ENST00000372977p.I290Ic.870C>TSubstitution - coding silent
PRICKLE4ENSG00000124593ENST00000394263p.?c.133-5C>AUnknown
PRICKLE4ENSG00000124593ENST00000335515p.?c.133-5C>AUnknown
FOXP4ENSG00000137166ENST00000373063p.V244Vc.732C>TSubstitution - coding silent
FRS3ENSG00000137218ENST00000259748p.P267fs*36c.800delCDeletion - Frameshift
APOBEC2ENSG00000124701ENST00000244669p.L176Lc.528G>ASubstitution - coding silent
SRFENSG00000112658ENST00000265354p.V399Vc.1197G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.S4756Sc.14268C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.R2749Qc.8246G>ASubstitution - Missense
RSPH10B2ENSG00000169402ENST00000404077p.V83Mc.247G>ASubstitution - Missense
C7orf26ENSG00000146576ENST00000344417p.?c.1149-8G>AUnknown
CCT5ENSG00000150753ENST00000280326p.Q238*c.712C>TSubstitution - Nonsense
GRID2ENSG00000152208ENST00000282020p.?c.1245+1G>AUnknown
CNGB1ENSG00000070729ENST00000251102p.L931Lc.2791C>TSubstitution - coding silent
ESRP2ENSG00000103067ENST00000473183p.L552Lc.1654C>TSubstitution - coding silent
ESRP2ENSG00000103067ENST00000473183p.L552Lc.1654C>TSubstitution - coding silent
DUS2ENSG00000167264ENST00000358896p.E80Ec.240G>ASubstitution - coding silent
KCTD19ENSG00000168676ENST00000304372p.W40*c.120G>ASubstitution - Nonsense
TET3ENSG00000187605ENST00000409262p.L393Lc.1179G>ASubstitution - coding silent
ENST00000342345p.S68Sc.204C>TSubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.N246Nc.738T>CSubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.K1589Nc.4767A>TSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.N667Nc.2001C>TSubstitution - coding silent
RETSATENSG00000042445ENST00000295802p.?c.998-3C>TUnknown
CPENSG00000047457ENST00000264613p.P441Pc.1323T>CSubstitution - coding silent
MFSD1ENSG00000118855ENST00000415822p.K309Kc.927G>ASubstitution - coding silent
MFSD1ENSG00000118855ENST00000264266p.K260Kc.780G>ASubstitution - coding silent
RARRES1ENSG00000118849ENST00000237696p.S106Nc.317G>ASubstitution - Missense
NDNFENSG00000173376ENST00000379692p.R420*c.1258C>TSubstitution - Nonsense
ENST00000357591p.A139Vc.416C>TSubstitution - Missense
TRPC3ENSG00000138741ENST00000264811p.L351Lc.1053C>TSubstitution - coding silent
CDH12ENSG00000154162ENST00000382254p.?c.1516-1G>TUnknown
FLT4ENSG00000037280ENST00000393347p.L147Lc.441G>ASubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.H2835Yc.8503C>TSubstitution - Missense
PDCD6ENSG00000249915ENST00000264933p.G79Gc.237C>TSubstitution - coding silent
IL20RAENSG00000016402ENST00000316649p.S85Lc.254C>TSubstitution - Missense
SLC35D3ENSG00000182747ENST00000331858p.F332Fc.996C>TSubstitution - coding silent
C1QTNF3ENSG00000082196ENST00000382065p.G234Sc.700G>ASubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.R1979Qc.5936G>ASubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.S702Sc.2106C>TSubstitution - coding silent
ECT2LENSG00000203734ENST00000367682p.Q493*c.1477C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.L5655Lc.16965G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.L5584Lc.16752G>ASubstitution - coding silent
ARID1BENSG00000049618ENST00000346085p.G922Gc.2766C>TSubstitution - coding silent
SYTL3ENSG00000164674ENST00000297239p.Q178Qc.534G>ASubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.T2889Tc.8667C>TSubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.S1219Nc.3656G>ASubstitution - Missense
FAM126AENSG00000122591ENST00000432176p.S227Nc.680G>ASubstitution - Missense
ENST00000222607p.S3Sc.9C>TSubstitution - coding silent
SRRM3ENSG00000177679ENST00000388802p.?c.725+6C>TUnknown
CARD11ENSG00000198286ENST00000396946p.R1133Hc.3398G>ASubstitution - Missense
AMZ1ENSG00000174945ENST00000312371p.R273Hc.818G>ASubstitution - Missense
EVX1ENSG00000106038ENST00000496902p.R197Wc.589C>TSubstitution - Missense
AMZ1ENSG00000174945ENST00000312371p.R61Hc.182G>ASubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356860p.?c.1895-4G>AUnknown
SEMA3EENSG00000170381ENST00000307792p.A261Vc.782C>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.K1411Nc.4233G>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.L1249Vc.3745C>GSubstitution - Missense
F8ENSG00000185010ENST00000360256p.L1249Vc.3745C>GSubstitution - Missense
GAB3ENSG00000160219ENST00000369575p.T134Mc.401C>TSubstitution - Missense
ENST00000291567p.C446Cc.1338C>TSubstitution - coding silent
FAM50AENSG00000071859ENST00000393600p.?c.296+1G>AUnknown
FLNAENSG00000196924ENST00000369850p.Q363Qc.1089G>ASubstitution - coding silent
APOOENSG00000184831ENST00000379226p.Q160*c.478C>TSubstitution - Nonsense
PTCHD1ENSG00000165186ENST00000379361p.A470Vc.1409C>TSubstitution - Missense
NM_173495.1p.A365Vc.1094C>TSubstitution - Missense
ENST00000378986p.Q17*c.49C>TSubstitution - Nonsense
ZFXENSG00000005889ENST00000379188p.L475Lc.1423C>TSubstitution - coding silent
NM_006343p.G787Gc.2361C>TSubstitution - coding silent
DMDENSG00000198947ENST00000357033p.Q3473Qc.10419G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378677p.Q3469Qc.10407G>ASubstitution - coding silent
IL36GENSG00000136688ENST00000259205p.I167Lc.499A>TSubstitution - Missense
DBIENSG00000155368ENST00000542275p.G50Gc.150C>GSubstitution - coding silent
TRIB2ENSG00000071575ENST00000155926p.L303Lc.907C>TSubstitution - coding silent
SAP130ENSG00000136715ENST00000357702p.R872*c.2614C>TSubstitution - Nonsense
OSMENSG00000099985ENST00000215781p.Q155Hc.465G>CSubstitution - Missense
ZMAT5ENSG00000100319ENST00000344318p.W113*c.339G>ASubstitution - Nonsense
AP1B1ENSG00000100280ENST00000357586p.Q860*c.2578C>TSubstitution - Nonsense
KREMEN1ENSG00000183762ENST00000327813p.?c.478-3C>TUnknown
DEPDC5ENSG00000100150ENST00000535622p.T167Tc.501G>ASubstitution - coding silent
PLA2G3ENSG00000100078ENST00000215885p.R455Wc.1363C>TSubstitution - Missense
RNF185ENSG00000138942ENST00000326132p.P160Lc.479C>TSubstitution - Missense
GCKRENSG00000084734ENST00000264717p.W517*c.1550G>ASubstitution - Nonsense
NRBP1ENSG00000115216ENST00000233557p.G201Gc.603G>ASubstitution - coding silent
PLB1ENSG00000163803ENST00000327757p.?c.1816-3C>TUnknown
BIRC6ENSG00000115760ENST00000421745p.R4378*c.13132C>TSubstitution - Nonsense
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R2540Hc.7619G>ASubstitution - Missense
ENST00000405167p.P2768Hc.8303C>ASubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.A779Tc.2335G>ASubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.A701Tc.2101G>ASubstitution - Missense
EFHBENSG00000163576ENST00000295824p.K281Kc.843A>GSubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.K281Kc.843A>GSubstitution - coding silent
IQCGENSG00000114473ENST00000265239p.?c.727-2A>TUnknown
MFI2ENSG00000163975ENST00000296350p.?c.645-3C>TUnknown
MFI2ENSG00000163975ENST00000296351p.?c.645-3C>TUnknown
OR5AC2ENSG00000196578ENST00000358642p.L286Pc.857T>CSubstitution - Missense
ENST00000287624p.?c.701-1G>AUnknown
ARHGEF38ENSG00000236699ENST00000420470p.L504Lc.1512C>TSubstitution - coding silent
ARHGEF38ENSG00000236699ENST00000420470p.G48Gc.144C>TSubstitution - coding silent
ARHGEF38ENSG00000236699ENST00000265154p.G48Gc.144C>TSubstitution - coding silent
ARHGAP24ENSG00000138639ENST00000395184p.G30*c.88G>TSubstitution - Nonsense
ARHGAP24ENSG00000138639ENST00000264343p.L139Lc.417G>ASubstitution - coding silent
MMRN1ENSG00000138722ENST00000394980p.E1040_S1044>AVVGc.3119_3130>CTGTAGTCGComplex - deletion inframe
ASH2LENSG00000129691ENST00000343823p.L511Lc.1533G>ASubstitution - coding silent
ERLIN2ENSG00000147475ENST00000276461p.?c.189+6C>TUnknown
KCNU1ENSG00000215262ENST00000399881p.S663Sc.1989C>TSubstitution - coding silent
THAP1ENSG00000131931ENST00000254250p.Q151Qc.453G>ASubstitution - coding silent
ENST00000449698p.T65Ic.194C>TSubstitution - Missense
CXorf38ENSG00000185753ENST00000327877p.Q186*c.556C>TSubstitution - Nonsense
WDR45ENSG00000196998ENST00000356463p.?c.236-6G>AUnknown
HDAC6ENSG00000094631ENST00000334136p.Q505Qc.1515G>ASubstitution - coding silent
TIMM17BENSG00000126768ENST00000376582p.Q140*c.418C>TSubstitution - Nonsense
TBC1D25ENSG00000068354ENST00000376771p.Y257Yc.771C>TSubstitution - coding silent
USP11ENSG00000102226ENST00000218348p.I588Ic.1764C>TSubstitution - coding silent
ZNF157ENSG00000147117ENST00000377073p.Q319Qc.957G>ASubstitution - coding silent
NLRP9ENSG00000185792ENST00000332836p.H884Hc.2652C>TSubstitution - coding silent
ZNF583ENSG00000198440ENST00000291598p.P64Lc.191C>TSubstitution - Missense
DUS3LENSG00000141994ENST00000309061p.T515Tc.1545C>TSubstitution - coding silent
ZNF497ENSG00000174586ENST00000311044p.V452Vc.1356G>CSubstitution - coding silent
FUT5ENSG00000130383ENST00000252675p.T246Tc.738C>TSubstitution - coding silent
ZNF814ENSG00000204514ENST00000435989p.H269fs*3c.798_1042del245Deletion - Frameshift
ZNF587BENSG00000269343ENST00000442832p.P325fs*15c.966delADeletion - Frameshift
ZNF587ENSG00000198466ENST00000339656p.C410Cc.1230C>TSubstitution - coding silent
XAF1ENSG00000132530ENST00000361842p.M169Ic.507G>ASubstitution - Missense
GPS2ENSG00000132522ENST00000389167p.Q117Qc.351G>ASubstitution - coding silent
ENST00000293813p.A16Tc.46G>ASubstitution - Missense
SLC16A13ENSG00000174327ENST00000308027p.A195Gc.584C>GSubstitution - Missense
OTOP2ENSG00000183034ENST00000331427p.Q474Qc.1422G>ASubstitution - coding silent
CD300LBENSG00000178789ENST00000392621p.G220Rc.658G>ASubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.S918Sc.2754C>TSubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.Q1923Qc.5769G>ASubstitution - coding silent
SULT1C3ENSG00000196228ENST00000329106p.C132Yc.395G>ASubstitution - Missense
SULT1C3ENSG00000196228ENST00000376700p.C132Yc.395G>ASubstitution - Missense
CCR4ENSG00000183813ENST00000330953p.A138Vc.413C>TSubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.Q1881Qc.5643G>ASubstitution - coding silent
SLC22A13ENSG00000172940ENST00000311856p.N249Ic.746A>TSubstitution - Missense
XIRP1ENSG00000168334ENST00000340369p.R154Hc.461G>ASubstitution - Missense
TTC21AENSG00000168026ENST00000431162p.E590*c.1768G>TSubstitution - Nonsense
LSSENSG00000160285ENST00000397728p.R347Rc.1041C>TSubstitution - coding silent
EFCAB8ENSG00000215529ENST00000400522p.?c.208+9G>AUnknown
CLTCL1ENSG00000070371ENST00000263200p.Q740*c.2218C>TSubstitution - Nonsense
MICAL3ENSG00000243156ENST00000441493p.?c.2429-3C>TUnknown
MICAL3ENSG00000243156ENST00000429452p.?c.2801-3C>TUnknown
MICAL3ENSG00000243156ENST00000444520p.?c.2429-3C>TUnknown
MICAL3ENSG00000243156ENST00000207726p.?c.2513-3C>TUnknown
CECR5ENSG00000069998ENST00000336737p.L240Lc.720G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.Y24523Yc.73569C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.Y24590Yc.73770C>TSubstitution - coding silent
ENST00000356127p.A32928Vc.98783C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A26625Vc.79874C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.F29584Fc.88752C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.F23212Fc.69636C>TSubstitution - coding silent
NM_003319p.F23087Fc.69261C>TSubstitution - coding silent
SF3B1ENSG00000115524ENST00000335508p.F647Fc.1941C>TSubstitution - coding silent
DNAH7ENSG00000118997ENST00000312428p.F3347Lc.10041T>ASubstitution - Missense
FAM117BENSG00000138439ENST00000392238p.P227Lc.680C>TSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.C1296Yc.3887G>ASubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.S855Lc.2564C>TSubstitution - Missense
ITSN2ENSG00000198399ENST00000406921p.S855Lc.2564C>TSubstitution - Missense
PDCD1ENSG00000188389ENST00000334409p.R272Wc.814C>TSubstitution - Missense
OTOFENSG00000115155ENST00000339598p.R14Wc.40C>TSubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.D546Dc.1638C>TSubstitution - coding silent
KIF3CENSG00000084731ENST00000264712p.L140Lc.420G>ASubstitution - coding silent
DNMT3AENSG00000119772ENST00000321117p.V372Vc.1116C>TSubstitution - coding silent
DNMT3AENSG00000119772ENST00000380746p.V183Vc.549C>TSubstitution - coding silent
INPP4AENSG00000040933ENST00000074304p.?c.1837+4C>TUnknown
ZAP70ENSG00000115085ENST00000264972p.P421Pc.1263G>ASubstitution - coding silent
INPP4AENSG00000040933ENST00000074304p.?c.1837+4C>TUnknown
MYH15ENSG00000144821ENST00000273353p.K1072Kc.3216G>ASubstitution - coding silent
BBXENSG00000114439ENST00000325805p.L195Fc.583C>TSubstitution - Missense
BBXENSG00000114439ENST00000325805p.A785Sc.2353G>TSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.?c.1842-5C>TUnknown
ZSCAN10ENSG00000130182ENST00000252463p.Q669*c.2005C>TSubstitution - Nonsense
ANKS3ENSG00000168096ENST00000304283p.?c.1410-4G>AUnknown
VPS35ENSG00000069329ENST00000299138p.Q330Qc.990G>ASubstitution - coding silent
GLIS2ENSG00000126603ENST00000262366p.?c.775+10C>TUnknown
TCF25ENSG00000141002ENST00000263347p.?c.1095-3C>TUnknown
CPNE7ENSG00000178773ENST00000268720p.I221Ic.663C>TSubstitution - coding silent
ZNF778ENSG00000170100ENST00000433976p.T107Tc.321G>TSubstitution - coding silent
CDT1ENSG00000167513ENST00000301019p.?c.352-6C>TUnknown
CTU2ENSG00000174177ENST00000453996p.Q26*c.76C>TSubstitution - Nonsense
CTU2ENSG00000174177ENST00000312060p.Q26*c.76C>TSubstitution - Nonsense
ABATENSG00000183044ENST00000396600p.?c.448-3C>TUnknown
ZC3H18ENSG00000158545ENST00000301011p.R402*c.1204C>TSubstitution - Nonsense
MYH8ENSG00000133020ENST00000403437p.Q175Qc.525G>ASubstitution - coding silent
ENST00000570743p.A395Tc.1183G>ASubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.P832Rc.2495C>GSubstitution - Missense
PRDM7ENSG00000126856ENST00000449207p.L246Lc.736C>TSubstitution - coding silent
MYH3ENSG00000109063ENST00000226209p.T1761Mc.5282C>TSubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.G530Ac.1589G>CSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.?c.2244-8C>TUnknown
NLRP12ENSG00000142405ENST00000345770p.?c.2247-8C>TUnknown
LILRB3ENSG00000204577ENST00000391750p.R468Cc.1402C>TSubstitution - Missense
CNOT3ENSG00000088038ENST00000221232p.S19Sc.57C>TSubstitution - coding silent
DIDO1ENSG00000101191ENST00000395343p.C1665Cc.4995C>TSubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.S1657Gc.4969A>GSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.G3355Dc.10064G>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000359125p.Q326*c.976C>TSubstitution - Nonsense
MYT1ENSG00000196132ENST00000536311p.L1087Lc.3261G>ASubstitution - coding silent
BMP2ENSG00000125845ENST00000378827p.R282Hc.845G>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.L1255Lc.3763C>TSubstitution - coding silent
POTEDENSG00000166351ENST00000299443p.G62Gc.186C>TSubstitution - coding silent
USP4ENSG00000114316ENST00000265560p.?c.2541-1G>AUnknown
LAMB2ENSG00000172037ENST00000305544p.?c.2884+5G>AUnknown
XM_496642.1p.Q433*c.1297C>TSubstitution - Nonsense
FRYLENSG00000075539ENST00000503238p.T1586Tc.4758G>ASubstitution - coding silent
NAT6ENSG00000243477ENST00000354862p.R107Hc.320G>ASubstitution - Missense
HYAL1ENSG00000114378ENST00000395144p.L193Lc.577C>TSubstitution - coding silent
MST1RENSG00000164078ENST00000296474p.P1328Sc.3982C>TSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.P1328Sc.3982C>TSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.S674Sc.2022C>TSubstitution - coding silent
MST1RENSG00000164078ENST00000296474p.S674Sc.2022C>TSubstitution - coding silent
RNF123ENSG00000164068ENST00000327697p.Q401Qc.1203G>ASubstitution - coding silent
ENST00000273600p.?c.2527-3C>TUnknown
ALAS1ENSG00000023330ENST00000394965p.L515Lc.1543C>TSubstitution - coding silent
RBM15BENSG00000179837ENST00000323686p.H677Hc.2031C>TSubstitution - coding silent
RPS6KA2ENSG00000071242ENST00000503859p.P266Pc.798G>ASubstitution - coding silent
RPS6KA2ENSG00000071242ENST00000265678p.P258Pc.774G>ASubstitution - coding silent
RPS6KA2ENSG00000071242ENST00000510118p.P283Pc.849G>ASubstitution - coding silent
SEMA3GENSG00000010319ENST00000231721p.E602*c.1804G>TSubstitution - Nonsense
E2F3ENSG00000112242ENST00000346618p.I58Ic.174C>TSubstitution - coding silent
WDR27ENSG00000184465ENST00000333572p.R610Qc.1829G>ASubstitution - Missense
FAM65BENSG00000111913ENST00000259698p.Q543*c.1627C>TSubstitution - Nonsense
KIAA0319ENSG00000137261ENST00000378214p.V292Lc.874G>CSubstitution - Missense
WDR91ENSG00000105875ENST00000354475p.N506Nc.1518C>TSubstitution - coding silent
ADCK2ENSG00000133597ENST00000072869p.K582Kc.1746G>ASubstitution - coding silent
C7orf63ENSG00000105792ENST00000389297p.V582Ic.1744G>ASubstitution - Missense
C7orf63ENSG00000105792ENST00000316089p.V582Ic.1744G>ASubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.V828Ic.2482G>ASubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.Q3127Qc.9381G>ASubstitution - coding silent
ASNSENSG00000070669ENST00000175506p.A499Vc.1496C>TSubstitution - Missense
ASB4ENSG00000005981ENST00000325885p.H112Hc.336C>TSubstitution - coding silent
PDK4ENSG00000004799ENST00000005178p.S28Sc.84G>ASubstitution - coding silent
ENST00000532796p.S357Sc.1071C>TSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.E3736Ec.11208G>ASubstitution - coding silent
PLECENSG00000178209ENST00000436759p.E3626Ec.10878G>ASubstitution - coding silent
PLECENSG00000178209ENST00000322810p.R4500Hc.13499G>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.R4341Hc.13022G>ASubstitution - Missense
ENST00000360660p.R975Wc.2923C>TSubstitution - Missense
ZNF250ENSG00000196150ENST00000342660p.P122Pc.366G>ASubstitution - coding silent
GPTENSG00000167701ENST00000528431p.F309Fc.927C>TSubstitution - coding silent
PRDM14ENSG00000147596ENST00000276594p.V111Vc.333G>ASubstitution - coding silent
SULF1ENSG00000137573ENST00000260128p.Y645*c.1935C>GSubstitution - Nonsense
ARHGEF10ENSG00000104728ENST00000349830p.?c.2610+6G>TUnknown
ASAH1ENSG00000104763ENST00000314146p.N359Nc.1077C>TSubstitution - coding silent
MTUS1ENSG00000129422ENST00000381861p.L280Lc.840G>ASubstitution - coding silent
MTUS1ENSG00000129422ENST00000297488p.L199Lc.597G>ASubstitution - coding silent
TCEB3CLENSG00000234298ENST00000451265p.E356Ac.1067A>CSubstitution - Missense
ATP5A1ENSG00000152234ENST00000398752p.V117Vc.351C>TSubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.R1371Cc.4111C>TSubstitution - Missense
ZBTB7CENSG00000184828ENST00000332053p.G520Sc.1558G>ASubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.R1217Wc.3649C>TSubstitution - Missense
MFSD6LENSG00000185156ENST00000329805p.A45Tc.133G>ASubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.Q403*c.1207C>TSubstitution - Nonsense
ODF4ENSG00000184650ENST00000328248p.S220Sc.660C>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000400316p.S957Sc.2871C>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000262719p.L1133Lc.3397C>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000400316p.L620Lc.1858C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.N1198Nc.3594C>TSubstitution - coding silent
PTPRHENSG00000080031ENST00000376350p.M188Ic.564G>ASubstitution - Missense
IDH3BENSG00000101365ENST00000380851p.V358Vc.1074T>ASubstitution - coding silent
CST1ENSG00000170373ENST00000398402p.R69Qc.206G>ASubstitution - Missense
CCM2LENSG00000101331ENST00000262659p.C401Cc.1203C>TSubstitution - coding silent
TPX2ENSG00000088325ENST00000300403p.?c.1055-3C>TUnknown
PRMT2ENSG00000160310ENST00000397637p.A73Ac.219G>ASubstitution - coding silent
PRMT2ENSG00000160310ENST00000334494p.A73Ac.219G>ASubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.R912Qc.2735G>ASubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.R912Qc.2735G>ASubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.R198Qc.593G>ASubstitution - Missense
KSR1ENSG00000141068ENST00000319524p.T352Tc.1056C>TSubstitution - coding silent
CBX8ENSG00000141570ENST00000269385p.P192Pc.576G>ASubstitution - coding silent
PIPOXENSG00000179761ENST00000323372p.L158Lc.474G>ASubstitution - coding silent
GUCY2DENSG00000132518ENST00000254854p.P445Hc.1334C>ASubstitution - Missense
RPTORENSG00000141564ENST00000306801p.?c.1843-9G>AUnknown
NPTX1ENSG00000171246ENST00000306773p.?c.653-4G>AUnknown
EIF4A3ENSG00000141543ENST00000269349p.L240Lc.720G>ASubstitution - coding silent
CHD3ENSG00000170004ENST00000330494p.L1907Lc.5719C>TSubstitution - coding silent
CCDC40ENSG00000141519ENST00000374877p.?c.2620-4G>AUnknown
LRRC45ENSG00000169683ENST00000306688p.V184Ic.550G>ASubstitution - Missense
ENST00000328585_v65p.?c.37-4G>AUnknown
TRAPPC8ENSG00000153339ENST00000283351p.Q1221Qc.3663G>ASubstitution - coding silent
DSC1ENSG00000134765ENST00000257198p.V803Ic.2407G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000320876p.R344*c.1030C>TSubstitution - Nonsense
SMCHD1ENSG00000101596ENST00000261598p.R344*c.1030C>TSubstitution - Nonsense
CCDC178ENSG00000166960ENST00000300227p.I263Tc.788T>CSubstitution - Missense
STK11ENSG00000118046ENST00000326873p.P281Pc.843G>ASubstitution - coding silent
STK11ENSG00000118046ENST00000326873p.I46Ic.138C>TSubstitution - coding silent
NACC1ENSG00000160877ENST00000292431p.E8*c.22G>TSubstitution - Nonsense
TRAPPC10ENSG00000160218ENST00000291574p.Q255Qc.765G>ASubstitution - coding silent
PKNOX1ENSG00000160199ENST00000291547p.T374Tc.1122G>ASubstitution - coding silent
ABCG1ENSG00000160179ENST00000398437p.C417Yc.1250G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000398437p.S423Nc.1268G>ASubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.D370Yc.1108G>TSubstitution - Missense
C21orf67ENSG00000183250ENST00000397841p.L106Fc.316C>TSubstitution - Missense
KRTAP10-1ENSG00000215455ENST00000400375p.R237Hc.710G>ASubstitution - Missense
RNF103ENSG00000239305ENST00000237455p.Q36Qc.108G>ASubstitution - coding silent
FTCDENSG00000160282ENST00000397746p.?c.775-3C>TUnknown
FTCDENSG00000160282ENST00000397748p.?c.775-3C>TUnknown
ANKRD36CENSG00000174501ENST00000456556p.L398Wc.1193T>GSubstitution - Missense
CNNM4ENSG00000158158ENST00000377075p.L311Lc.931C>TSubstitution - coding silent
SNRNP200ENSG00000144028ENST00000323853p.I1532Ic.4596C>TSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000383836p.Y755Yc.2265C>TSubstitution - coding silent
SEPT12ENSG00000140623ENST00000268231p.R204*c.610C>TSubstitution - Nonsense
IRX6ENSG00000159387ENST00000290552p.?c.1333+3A>GUnknown
NM_025134.3p.D2834Dc.8502C>TSubstitution - coding silent
GPR179ENSG00000188888ENST00000342292p.?c.1646-1G>AUnknown
COQ9ENSG00000088682ENST00000262507p.L193Lc.577C>TSubstitution - coding silent
CPNE2ENSG00000140848ENST00000290776p.Y61Yc.183C>TSubstitution - coding silent
CETPENSG00000087237ENST00000200676p.R175*c.523C>TSubstitution - Nonsense
AMFRENSG00000159461ENST00000290649p.L624Lc.1872G>ASubstitution - coding silent
AMFRENSG00000159461ENST00000290649p.I309fs*60c.925_929ATTCG>TComplex - frameshift
CES1ENSG00000198848ENST00000360526p.G357Gc.1071C>TSubstitution - coding silent
ZPBP2ENSG00000186075ENST00000348931p.H289Hc.867C>TSubstitution - coding silent
NM_016507p.P1078Pc.3234T>CSubstitution - coding silent
KRT39ENSG00000196859ENST00000355612p.Y185Yc.555C>TSubstitution - coding silent
GJD3ENSG00000183153ENST00000578689p.T39Tc.117G>ASubstitution - coding silent
ZZEF1ENSG00000074755ENST00000381638p.C1849Cc.5547C>TSubstitution - coding silent
ADAMTS1ENSG00000154734ENST00000284984p.G600Gc.1800C>TSubstitution - coding silent
ADAMTS1ENSG00000154734ENST00000284984p.A431Tc.1291G>ASubstitution - Missense
ATP5JENSG00000154723ENST00000400087p.Y50Yc.150C>TSubstitution - coding silent
ATP5JENSG00000154723ENST00000400099p.Y50Yc.150C>TSubstitution - coding silent
SYNJ1ENSG00000159082ENST00000433931p.R146*c.436C>TSubstitution - Nonsense
NM_003895.2p.R107*c.319C>TSubstitution - Nonsense
NM_003895.2p.?c.212-4G>AUnknown
NM_003895.2p.A1007Vc.3020C>TSubstitution - Missense
KRTAP21-2ENSG00000187026ENST00000333892p.R71Qc.212G>ASubstitution - Missense
MORC3ENSG00000159256ENST00000400485p.Q237Hc.711G>TSubstitution - Missense
GABRG1ENSG00000163285ENST00000295452p.S208Nc.623G>ASubstitution - Missense
CCDC36ENSG00000173421ENST00000296449p.L393Vc.1177C>GSubstitution - Missense
CCDC36ENSG00000173421ENST00000438782p.L393Vc.1177C>GSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.R98Pc.293G>CSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.Q644Qc.1932G>ASubstitution - coding silent
PRR12ENSG00000126464ENST00000418929p.A816Ac.2448C>ASubstitution - coding silent
LRRC4BENSG00000131409ENST00000389201p.T612Mc.1835C>TSubstitution - Missense
SLC4A11ENSG00000088836ENST00000380059p.T735Tc.2205A>GSubstitution - coding silent
DDRGK1ENSG00000198171ENST00000354488p.Q285Qc.855G>ASubstitution - coding silent
CNBD2ENSG00000149646ENST00000349339p.G286Gc.858C>TSubstitution - coding silent
CPNE1ENSG00000214078ENST00000317677p.Q14Qc.42G>ASubstitution - coding silent
GDF5ENSG00000125965ENST00000374369p.A72Vc.215C>TSubstitution - Missense
TRPC4APENSG00000100991ENST00000252015p.R532Kc.1595G>ASubstitution - Missense
NNATENSG00000053438ENST00000062104p.T63Mc.188C>TSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.N527Nc.1581C>TSubstitution - coding silent
SLC23A2ENSG00000089057ENST00000338244p.?c.325-1G>AUnknown
FAM65CENSG00000042062ENST00000327979p.T709Tc.2127G>ASubstitution - coding silent
BCAS1ENSG00000064787ENST00000395961p.A239Tc.715G>ASubstitution - Missense
PSMA7ENSG00000101182ENST00000370873p.L76Lc.228C>TSubstitution - coding silent
CALUENSG00000128595ENST00000542996p.G291Dc.872G>ASubstitution - Missense
CALUENSG00000128595ENST00000249364p.G283Dc.848G>ASubstitution - Missense
FAM71F2ENSG00000205085ENST00000480462p.G80Rc.238G>ASubstitution - Missense
ZNF800ENSG00000048405ENST00000393313p.Q97Qc.291G>ASubstitution - coding silent
SMOENSG00000128602ENST00000249373p.R763Qc.2288G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.R2187Hc.6560G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.P47Pc.141C>TSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.P47Pc.141C>TSubstitution - coding silent
TAF1LENSG00000122728ENST00000242310p.C868Yc.2603G>ASubstitution - Missense
EQTNENSG00000120160ENST00000380032p.T251Ic.752C>TSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.P438Pc.1314G>ASubstitution - coding silent
LINGO2ENSG00000174482ENST00000379992p.P438Pc.1314G>ASubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.A1212Tc.3634G>ASubstitution - Missense
CA9ENSG00000107159ENST00000378357p.A258Ac.774C>TSubstitution - coding silent
IL11RAENSG00000137070ENST00000555003p.A290Vc.869C>TSubstitution - Missense
FAM219AENSG00000164970ENST00000379078p.T112Mc.335C>TSubstitution - Missense
ENST00000377824p.A363Tc.1087G>ASubstitution - Missense
CCINENSG00000185972ENST00000335119p.G381Gc.1143C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377110p.C1198Cc.3594C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000423814p.C1202Cc.3606C>TSubstitution - coding silent
PRKCDENSG00000163932ENST00000394729p.Q521*c.1561C>TSubstitution - Nonsense
PRKCDENSG00000163932ENST00000394729p.Q521*c.1561C>TSubstitution - Nonsense
ITIH4ENSG00000055955ENST00000266041p.L818Lc.2452C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.L40Lc.120G>ASubstitution - coding silent
ASB14ENSG00000239388ENST00000487349p.G227Ec.680G>ASubstitution - Missense
DNAH12ENSG00000174844ENST00000351747p.A1384Tc.4150G>ASubstitution - Missense
LZTS1ENSG00000061337ENST00000381569p.G2Dc.5G>ASubstitution - Missense
ATXN7ENSG00000163635ENST00000398590p.Q305*c.913C>TSubstitution - Nonsense
ATXN7ENSG00000163635ENST00000295900p.Q305*c.913C>TSubstitution - Nonsense
ADAM28ENSG00000042980ENST00000265769p.A302Tc.904G>ASubstitution - Missense
LOXL2ENSG00000134013ENST00000389131p.C84Cc.252C>TSubstitution - coding silent
CCAR2ENSG00000158941ENST00000389279p.T115Tc.345G>ASubstitution - coding silent
BMP1ENSG00000168487ENST00000306385p.A390Ac.1170G>ASubstitution - coding silent
PNMA2ENSG00000240694ENST00000522362p.R166*c.496C>TSubstitution - Nonsense
DCAF4L2ENSG00000176566ENST00000319675p.P116Pc.348G>ASubstitution - coding silent
CDH17ENSG00000079112ENST00000027335p.L596Lc.1788G>ASubstitution - coding silent
CDH17ENSG00000079112ENST00000027335p.A533Vc.1598C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375205p.S218Lc.653C>TSubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.H740Hc.2220C>TSubstitution - coding silent
POP1ENSG00000104356ENST00000349693p.W312*c.935G>ASubstitution - Nonsense
NCBP1ENSG00000136937ENST00000375147p.H16Hc.48C>TSubstitution - coding silent
SCN4AENSG00000007314ENST00000435607p.?c.3318+3G>AUnknown
KCNH6ENSG00000173826ENST00000583023p.P698Pc.2094G>ASubstitution - coding silent
ACEENSG00000159640ENST00000290866p.Y266Yc.798C>TSubstitution - coding silent
TANC2ENSG00000170921ENST00000389520p.S1000Sc.3000C>TSubstitution - coding silent
ENST00000389520_v65p.S1000Sc.3000C>TSubstitution - coding silent
CACNG4ENSG00000075461ENST00000262138p.Y159Yc.477C>TSubstitution - coding silent
RGS9ENSG00000108370ENST00000262406p.A605Tc.1813G>ASubstitution - Missense
ANKARENSG00000151687ENST00000520309p.S1311Nc.3932G>ASubstitution - Missense
SDPRENSG00000168497ENST00000304141p.A123Tc.367G>ASubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.K810Kc.2430G>ASubstitution - coding silent
SNTG1ENSG00000147481ENST00000518864p.?c.680+8C>TUnknown
PENKENSG00000181195ENST00000314922p.R260fs*>9c.778_779insAInsertion - Frameshift
XKR4ENSG00000206579ENST00000327381p.V541Mc.1621G>ASubstitution - Missense
TMEM68ENSG00000167904ENST00000334667p.S250fs*>4c.749_762del14Deletion - Frameshift
RGS20ENSG00000147509ENST00000297313p.E121Kc.361G>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000422365p.A210Pc.628G>CSubstitution - Missense
ENST00000422365_v68p.A210Pc.628G>CSubstitution - Missense
MCMDC2ENSG00000178460ENST00000422365p.L330Vc.988C>GSubstitution - Missense
MCMDC2ENSG00000178460ENST00000396592p.L330Vc.988C>GSubstitution - Missense
YTHDF3ENSG00000185728ENST00000539294p.Q301Qc.903G>ASubstitution - coding silent
ASPHENSG00000198363ENST00000379454p.?c.1626+7G>AUnknown
DOCK11ENSG00000147251ENST00000276202p.?c.2752-8A>GUnknown
LHFPL1ENSG00000182508ENST00000371968p.C151Yc.452G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.?c.6056-3C>TUnknown
NDUFA1ENSG00000125356ENST00000371437p.G13Gc.39C>TSubstitution - coding silent
ELF4ENSG00000102034ENST00000335997p.L594Lc.1780C>TSubstitution - coding silent
UTP14AENSG00000156697ENST00000394422p.Q335*c.1003C>TSubstitution - Nonsense
SLC25A23ENSG00000125648ENST00000301454p.R81Hc.242G>ASubstitution - Missense
ENST00000215591p.A821Vc.2462C>TSubstitution - Missense
MCOLN1ENSG00000090674ENST00000264079p.?c.878-4G>AUnknown
PNPLA6ENSG00000032444ENST00000414982p.R517Wc.1549C>TSubstitution - Missense
INSRENSG00000171105ENST00000302850p.T620Tc.1860C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T11555Ic.34664C>TSubstitution - Missense
ENST00000331986p.T7188Ic.21563C>TSubstitution - Missense
OR2Z1ENSG00000181733ENST00000324060p.M59Ic.177G>ASubstitution - Missense
MARCH2ENSG00000099785ENST00000602117p.L138Lc.414G>ASubstitution - coding silent
NUTM2GENSG00000188152ENST00000372322p.T15Tc.45C>TSubstitution - coding silent
NUTM2GENSG00000188152ENST00000354649p.T15Tc.45C>TSubstitution - coding silent
PTCH1ENSG00000185920ENST00000331920p.S1232Lc.3695C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.S1231Lc.3692C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.I1021Vc.3061A>GSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.I1021Vc.3061A>GSubstitution - Missense
C9orf3ENSG00000148120ENST00000375315p.Y522Yc.1566T>CSubstitution - coding silent
NUTM2FENSG00000130950ENST00000253262p.W298*c.893G>ASubstitution - Nonsense
CXorf57ENSG00000147231ENST00000372548p.D409Dc.1227C>TSubstitution - coding silent
GPRASP1ENSG00000198932ENST00000415986p.G324Rc.970G>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.Q1588*c.4762C>TSubstitution - Nonsense
COL4A6ENSG00000197565ENST00000394872p.Q1589*c.4765C>TSubstitution - Nonsense
XM_042978.4p.T1529Mc.4586C>TSubstitution - Missense
FRMPD3ENSG00000147234ENST00000276185p.T1480Mc.4439C>TSubstitution - Missense
SCARF1ENSG00000074660ENST00000263071p.R484Hc.1451G>ASubstitution - Missense
SREBF1ENSG00000072310ENST00000355815p.L170Lc.510G>ASubstitution - coding silent
FLCNENSG00000154803ENST00000389169p.A60Ac.180G>ASubstitution - coding silent
WDR81ENSG00000167716ENST00000409644p.T391Tc.1173G>TSubstitution - coding silent
UNC13DENSG00000092929ENST00000207549p.G493Gc.1479C>TSubstitution - coding silent
NM_004259.4p.A694Tc.2080G>ASubstitution - Missense
SLC5A10ENSG00000154025ENST00000395647p.Q448*c.1342C>TSubstitution - Nonsense
FBXW10ENSG00000171931ENST00000395667p.I807Tc.2420T>CSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.R1370Rc.4110C>TSubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.D1662Dc.4986C>TSubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.Q377Qc.1131G>ASubstitution - coding silent
UBE2OENSG00000175931ENST00000319380p.Q377Qc.1131G>ASubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.V1964Vc.5892G>ASubstitution - coding silent
CYTH1ENSG00000108669ENST00000361101p.S377Sc.1131C>TSubstitution - coding silent
ENST00000300671p.E229Ec.687G>ASubstitution - coding silent
DOT1LENSG00000104885ENST00000398665p.A1335Vc.4004C>TSubstitution - Missense
THOP1ENSG00000172009ENST00000307741p.A299Ac.897G>ASubstitution - coding silent
ZNF536ENSG00000198597ENST00000355537p.S1208Sc.3624C>TSubstitution - coding silent
LHBENSG00000104826ENST00000221421p.R109Rc.327C>TSubstitution - coding silent
IZUMO2ENSG00000161652ENST00000293405p.N71Nc.213C>TSubstitution - coding silent
AP2A1ENSG00000196961ENST00000359032p.R618Hc.1853G>ASubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.Y819Yc.2457C>TSubstitution - coding silent
SLC2A7ENSG00000197241ENST00000400906p.N485Nc.1455C>TSubstitution - coding silent
PLEKHN1ENSG00000187583ENST00000379410p.A555Ac.1665C>TSubstitution - coding silent
KLHL17ENSG00000187961ENST00000338591p.T460Tc.1380C>GSubstitution - coding silent
CORO2BENSG00000103647ENST00000566799p.N389Nc.1167C>TSubstitution - coding silent
ANP32AENSG00000140350ENST00000465139p.G4Gc.12C>TSubstitution - coding silent
EVI5ENSG00000067208ENST00000370331p.V468Vc.1404C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.D66Ec.198C>ASubstitution - Missense
CARS2ENSG00000134905ENST00000257347p.Q289Qc.867G>ASubstitution - coding silent
CUL4AENSG00000139842ENST00000375440p.L303Lc.909G>ASubstitution - coding silent
CUL4AENSG00000139842ENST00000375441p.L203Lc.609G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000375601p.L772Lc.2314C>TSubstitution - coding silent
MCF2LENSG00000126217ENST00000375608p.L798Lc.2392C>TSubstitution - coding silent
ARHGAP11AENSG00000198826ENST00000361627p.H138Yc.412C>TSubstitution - Missense
MIPEPENSG00000027001ENST00000382172p.Q439fs*19c.1314delTDeletion - Frameshift
SACSENSG00000151835ENST00000382298p.S3775Sc.11325C>TSubstitution - coding silent
NUTM1ENSG00000184507ENST00000333756p.E1015Gc.3044A>GSubstitution - Missense
CHRM5ENSG00000184984ENST00000383263p.A38Vc.113C>TSubstitution - Missense
ENST00000414268p.P609Sc.1825C>TSubstitution - Missense
LTKENSG00000062524ENST00000263800p.?c.2121-3C>TUnknown
LTKENSG00000062524ENST00000355166p.?c.1938-3C>TUnknown
INO80ENSG00000128908ENST00000361937p.?c.3498-3C>TUnknown
CASC5ENSG00000137812ENST00000346991p.L1851Lc.5551C>TSubstitution - coding silent
CASC5ENSG00000137812ENST00000346991p.L1851Lc.5551C>TSubstitution - coding silent
BUB1BENSG00000156970ENST00000287598p.?c.36-3C>TUnknown
LMBRD2ENSG00000164187ENST00000296603p.C489*c.1467T>ASubstitution - Nonsense
XM_031689.7p.Q217*c.649C>TSubstitution - Nonsense
RICTORENSG00000164327ENST00000296782p.?c.973-9C>TUnknown
RICTORENSG00000164327ENST00000357387p.?c.973-9C>TUnknown
MROH2BENSG00000171495ENST00000399564p.?c.2441+6T>AUnknown
RBFOX1ENSG00000078328ENST00000311745p.K220Nc.660G>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000355637p.K220Nc.660G>TSubstitution - Missense
MLKLENSG00000168404ENST00000308807p.H329Hc.987C>TSubstitution - coding silent
FMNL1ENSG00000184922ENST00000331495p.P892Pc.2676G>ASubstitution - coding silent
FMNL1ENSG00000184922ENST00000331495p.R1061Cc.3181C>TSubstitution - Missense
ENST00000262017p.D653Nc.1957G>ASubstitution - Missense
SMTNL2ENSG00000188176ENST00000389313p.A419Vc.1256C>TSubstitution - Missense
SMTNL2ENSG00000188176ENST00000338859p.A275Vc.824C>TSubstitution - Missense
GOSR2ENSG00000108433ENST00000415811p.Q178*c.532C>TSubstitution - Nonsense
KANSL1ENSG00000120071ENST00000262419p.?c.2393-3C>TUnknown
CDK5RAP3ENSG00000108465ENST00000338399p.Q439*c.1315C>TSubstitution - Nonsense
TBKBP1ENSG00000198933ENST00000361722p.A188Tc.562G>ASubstitution - Missense
ENO3ENSG00000108515ENST00000323997p.Q298*c.892C>TSubstitution - Nonsense
COL1A1ENSG00000108821ENST00000225964p.A916Tc.2746G>ASubstitution - Missense
SAMD14ENSG00000167100ENST00000503131p.T335Tc.1005G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S114Pc.340T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S114Pc.340T>CSubstitution - Missense
BFSP1ENSG00000125864ENST00000377868p.S362Sc.1086C>ASubstitution - coding silent
KIF16BENSG00000089177ENST00000408042p.T478Rc.1433C>GSubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.?c.1948-3C>TUnknown
SDCBP2ENSG00000125775ENST00000381808p.R62Rc.186C>TSubstitution - coding silent
NXT1ENSG00000132661ENST00000254998p.S73Sc.219C>TSubstitution - coding silent
SLC24A3ENSG00000185052ENST00000328041p.S210Sc.630C>TSubstitution - coding silent
ENST00000356127p.L7418Fc.22252C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A2724Vc.8171C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.A2678Vc.8033C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A2678Vc.8033C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.A2724Vc.8171C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A3042Vc.9125C>TSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.N1006Dc.3016A>GSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.N1006Dc.3016A>GSubstitution - Missense
MFSD6ENSG00000151690ENST00000392328p.L179Lc.537G>ASubstitution - coding silent
ANKARENSG00000151687ENST00000520309p.K816Kc.2448G>ASubstitution - coding silent
ANKARENSG00000151687ENST00000313581p.K745Kc.2235G>ASubstitution - coding silent
DENND4BENSG00000198837ENST00000361217p.R403Rc.1209C>TSubstitution - coding silent
CRTC2ENSG00000160741ENST00000368633p.?c.1862-1G>AUnknown
NPR1ENSG00000169418ENST00000368680p.A719Vc.2156C>TSubstitution - Missense
SHEENSG00000169291ENST00000304760p.K149Kc.447G>ASubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.R990Kc.2969G>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.R990Kc.2969G>ASubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.Q222*c.664C>TSubstitution - Nonsense
TNNI1ENSG00000159173ENST00000367312p.K131Kc.393G>ASubstitution - coding silent
PHLDA3ENSG00000174307ENST00000367309p.C63Cc.189C>TSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000358823p.L1075Lc.3225G>ASubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000313695p.Q217Qc.651G>ASubstitution - coding silent
DDX59ENSG00000118197ENST00000331314p.R300Rc.900C>TSubstitution - coding silent
ENST00000367349p.R300Rc.900C>TSubstitution - coding silent
OPTCENSG00000188770ENST00000367222p.M283Ic.849G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000357681p.L417Lc.1249C>TSubstitution - coding silent
PTPN7ENSG00000143851ENST00000367279p.V362Mc.1084G>ASubstitution - Missense
PTPN7ENSG00000143851ENST00000367279p.R260Hc.779G>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.D510Ec.1530C>GSubstitution - Missense
MYO5AENSG00000197535ENST00000399231p.L1477Lc.4429C>TSubstitution - coding silent
MAPK6ENSG00000069956ENST00000261845p.E573*c.1717G>TSubstitution - Nonsense
BCL2L10ENSG00000137875ENST00000260442p.T193Ic.578C>TSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.L1797Lc.5391G>ASubstitution - coding silent
TRPM7ENSG00000092439ENST00000313478p.S1255Sc.3765G>ASubstitution - coding silent
ATP8B4ENSG00000104043ENST00000284509p.W77Lc.230G>TSubstitution - Missense
BNIP2ENSG00000140299ENST00000267859p.P137Pc.411G>ASubstitution - coding silent
PRCPENSG00000137509ENST00000313010p.Q495Qc.1485G>ASubstitution - coding silent
TRIM66ENSG00000166436ENST00000299550p.V622Mc.1864G>ASubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.R965Qc.2894G>ASubstitution - Missense
HCAR1ENSG00000196917ENST00000356987p.Q212*c.634C>TSubstitution - Nonsense
CDKN1BENSG00000111276ENST00000228872p.L45fs*80c.132_133insTInsertion - Frameshift
EP400ENSG00000183495ENST00000389561p.?c.3126+8G>AUnknown
PDE4DIPENSG00000178104ENST00000369356p.C2362Yc.7085G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.G331Gc.993A>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.A1039Vc.3116C>TSubstitution - Missense
PAFAH2ENSG00000158006ENST00000374284p.A299Tc.895G>ASubstitution - Missense
SH3BP5LENSG00000175137ENST00000366472p.Q102Qc.306G>ASubstitution - coding silent
C8AENSG00000157131ENST00000361249p.F206Lc.616T>CSubstitution - Missense
PGM1ENSG00000079739ENST00000371083p.S169Sc.507C>TSubstitution - coding silent
PGM1ENSG00000079739ENST00000371084p.S151Sc.453C>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000359929p.L49Lc.147G>ASubstitution - coding silent
REREENSG00000142599ENST00000400908p.R1317Qc.3950G>ASubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.M427Tc.1280T>CSubstitution - Missense
TMEM30BENSG00000182107ENST00000355702p.D347Dc.1041C>TSubstitution - coding silent
TMEM229BENSG00000198133ENST00000357461p.C23Cc.69C>TSubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.V749Ic.2245G>ASubstitution - Missense
SPTBENSG00000070182ENST00000542895p.R1221Wc.3661C>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.L1286Vc.3856C>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.L1286Vc.3856C>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.S1513Sc.4539G>ASubstitution - coding silent
ASB2ENSG00000100628ENST00000315988p.L293Lc.877C>TSubstitution - coding silent
TCL1AENSG00000100721ENST00000554012p.M75Ic.225G>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.A3193Ac.9579G>ASubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.A3193Ac.9579G>ASubstitution - coding silent
APH1BENSG00000138613ENST00000261879p.L222Lc.666C>TSubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.R4703*c.14107C>TSubstitution - Nonsense
TPM1ENSG00000140416ENST00000358278p.A22Vc.65C>TSubstitution - Missense
TPM1ENSG00000140416ENST00000267996p.A22Vc.65C>TSubstitution - Missense
IQCHENSG00000103599ENST00000512104p.Q3*c.7C>TSubstitution - Nonsense
IQCHENSG00000103599ENST00000335894p.G578Rc.1732G>ASubstitution - Missense
LCTLENSG00000188501ENST00000341509p.L158Lc.474G>ASubstitution - coding silent
MEGF11ENSG00000157890ENST00000409699p.Q1040Hc.3120G>TSubstitution - Missense
MEGF11ENSG00000157890ENST00000395625p.Q965Hc.2895G>TSubstitution - Missense
SLC24A1ENSG00000074621ENST00000261892p.V533Mc.1597G>ASubstitution - Missense
SLC24A1ENSG00000074621ENST00000261892p.G758Gc.2274C>TSubstitution - coding silent
RNF34ENSG00000170633ENST00000392464p.L123Lc.369G>ASubstitution - coding silent
HNF1AENSG00000135100ENST00000257555p.C236Cc.708C>TSubstitution - coding silent
HNF1AENSG00000135100ENST00000543427p.C119Cc.357C>TSubstitution - coding silent
CLIP1ENSG00000130779ENST00000358808p.E1044Dc.3132G>TSubstitution - Missense
CLIP1ENSG00000130779ENST00000358808p.Q932Qc.2796G>ASubstitution - coding silent
LRRC43ENSG00000158113ENST00000339777p.R129Qc.386G>ASubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.?c.3007-1G>AUnknown
CD58ENSG00000116815ENST00000369489p.Q186Qc.558G>ASubstitution - coding silent
XM_052561.7p.N323Nc.969C>TSubstitution - coding silent
CSDE1ENSG00000009307ENST00000369530p.H277Yc.829C>TSubstitution - Missense
SIKE1ENSG00000052723ENST00000060969p.N87Nc.261C>TSubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.V135Vc.405C>TSubstitution - coding silent
KIAA2013ENSG00000116685ENST00000376572p.C523Cc.1569C>TSubstitution - coding silent
KIAA2013ENSG00000116685ENST00000376576p.C523Cc.1569C>TSubstitution - coding silent
CLCN6ENSG00000011021ENST00000346436p.C283Yc.848G>ASubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.K886Kc.2658G>ASubstitution - coding silent
RPRD2ENSG00000163125ENST00000369068p.K886Kc.2658G>ASubstitution - coding silent
PLEKHO1ENSG00000023902ENST00000369124p.N43Tc.128A>CSubstitution - Missense
PLEKHO1ENSG00000023902ENST00000369124p.A270Tc.808G>ASubstitution - Missense
MTMR11ENSG00000014914ENST00000439741p.Q85*c.253C>TSubstitution - Nonsense
TAS1R3ENSG00000169962ENST00000339381p.R137Hc.410G>ASubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.?c.1415-1G>AUnknown
CGNENSG00000143375ENST00000271636p.L662Lc.1986G>ASubstitution - coding silent
HORMAD1ENSG00000143452ENST00000361824p.E288Kc.862G>ASubstitution - Missense
LINGO4ENSG00000213171ENST00000368820p.S193Nc.578G>ASubstitution - Missense
GANCENSG00000214013ENST00000318010p.P703Lc.2108C>TSubstitution - Missense
PLA2G4DENSG00000159337ENST00000290472p.G372Rc.1114G>ASubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.Q1506*c.4516C>TSubstitution - Nonsense
NADKENSG00000008130ENST00000344463p.D329Dc.987C>TSubstitution - coding silent
NADKENSG00000008130ENST00000341991p.D184Dc.552C>TSubstitution - coding silent
SPATA21ENSG00000187144ENST00000335496p.P42Pc.126G>CSubstitution - coding silent
SPG11ENSG00000104133ENST00000261866p.?c.6585+8C>TUnknown
TUBGCP4ENSG00000137822ENST00000564079p.R647*c.1939C>TSubstitution - Nonsense
ENST00000300167p.L135Lc.403C>TSubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.Q1218Qc.3654G>ASubstitution - coding silent
TOE1ENSG00000132773ENST00000372090p.V32Vc.96C>TSubstitution - coding silent
SPG11ENSG00000104133ENST00000261866p.K170Kc.510A>GSubstitution - coding silent
SPG11ENSG00000104133ENST00000558319p.K170Kc.510A>GSubstitution - coding silent
SLC5A9ENSG00000117834ENST00000236495p.V414Mc.1240G>ASubstitution - Missense
IPPENSG00000197429ENST00000359942p.G443Rc.1327G>ASubstitution - Missense
IPPENSG00000197429ENST00000359942p.E121Gc.362A>GSubstitution - Missense
SCP2ENSG00000116171ENST00000371514p.L330Lc.988C>TSubstitution - coding silent
SLC1A7ENSG00000162383ENST00000371494p.G219Gc.657C>TSubstitution - coding silent
ZFYVE9ENSG00000157077ENST00000287727p.?c.2456-4C>TUnknown
TTC39AENSG00000085831ENST00000262676p.E370fs*33c.1107delADeletion - Frameshift
HEATR5AENSG00000129493ENST00000389961p.F25Ic.73T>ASubstitution - Missense
XM_371254.3p.?c.6517-3C>TUnknown
TTC22ENSG00000006555ENST00000371276p.D83Dc.249C>TSubstitution - coding silent
TTC22ENSG00000006555ENST00000371274p.D83Dc.249C>TSubstitution - coding silent
MROH7ENSG00000184313ENST00000421030p.P91Lc.272C>TSubstitution - Missense
ACOT11ENSG00000162390ENST00000343744p.?c.1630-3C>TUnknown
CDCP2ENSG00000157211ENST00000371330p.R265Wc.793C>TSubstitution - Missense
PYGLENSG00000100504ENST00000216392p.L350Lc.1048C>TSubstitution - coding silent
ATP5SENSG00000125375ENST00000311459p.D98Dc.294C>TSubstitution - coding silent
ENST00000553905p.D70Dc.210C>TSubstitution - coding silent
LINSENSG00000140471ENST00000314742p.C174Yc.521G>ASubstitution - Missense
ASB7ENSG00000183475ENST00000332783p.R31*c.91C>TSubstitution - Nonsense
ATG2BENSG00000066739ENST00000359933p.R1920Rc.5760C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.R518Cc.1552C>TSubstitution - Missense
IQSEC3ENSG00000120645ENST00000382841p.A58Ac.174C>TSubstitution - coding silent
SOX5ENSG00000134532ENST00000451604p.K233Kc.699A>GSubstitution - coding silent
SLC6A12ENSG00000111181ENST00000397296p.L462Lc.1384C>TSubstitution - coding silent
LCE3EENSG00000185966ENST00000368789p.G43Gc.129C>TSubstitution - coding silent
ALG10ENSG00000139133ENST00000266483p.L137Lc.411A>GSubstitution - coding silent
MAGI3ENSG00000081026ENST00000307546p.V205Ic.613G>ASubstitution - Missense
CTTNBP2NLENSG00000143079ENST00000271277p.E384Dc.1152G>TSubstitution - Missense
WNT2BENSG00000134245ENST00000369684p.A321Tc.961G>ASubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.K771Kc.2313G>ASubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.Q1601*c.4801C>TSubstitution - Nonsense
PDXDC1ENSG00000179889ENST00000396410p.A181Vc.542C>TSubstitution - Missense
SU_SMG1p.S1152Nc.3455G>ASubstitution - Missense
NM_015133.2p.S201Sc.603C>TSubstitution - coding silent
MAPK8IP3ENSG00000138834ENST00000250894p.?c.603-3C>TUnknown
ABCC1ENSG00000103222ENST00000399410p.I1313Ic.3939C>TSubstitution - coding silent
ACSM3ENSG00000005187ENST00000289416p.T357Tc.1071C>TSubstitution - coding silent
ACSM3ENSG00000005187ENST00000440284p.T357Tc.1071C>TSubstitution - coding silent
ZNF598ENSG00000167962ENST00000431526p.Q762Qc.2286G>ASubstitution - coding silent
GALNT16ENSG00000100626ENST00000553669p.P467Pc.1401G>ASubstitution - coding silent
YLPM1ENSG00000119596ENST00000238571p.R1037Cc.3109C>TSubstitution - Missense
HEATR4ENSG00000187105ENST00000334988p.?c.2405+8C>TUnknown
ALKBH1ENSG00000100601ENST00000216489p.S389Sc.1167C>TSubstitution - coding silent
TMEM63CENSG00000165548ENST00000298351p.L155Lc.465G>ASubstitution - coding silent
ZC2HC1CENSG00000119703ENST00000524913p.M281Ic.843G>ASubstitution - Missense
MLH3ENSG00000119684ENST00000355774p.Q173*c.517C>TSubstitution - Nonsense
SU_SK473p.Q422Qc.1266G>ASubstitution - coding silent
RGMAENSG00000182175ENST00000329082p.P47Pc.141G>ASubstitution - coding silent
RGMAENSG00000182175ENST00000557301p.T169Mc.506C>TSubstitution - Missense
RGMAENSG00000182175ENST00000329082p.T161Mc.482C>TSubstitution - Missense
SLCO3A1ENSG00000176463ENST00000318445p.F593Fc.1779C>TSubstitution - coding silent
RHBDF1ENSG00000007384ENST00000262316p.R5Rc.15C>TSubstitution - coding silent
FRMPD2ENSG00000170324ENST00000374201p.Q152Qc.456G>ASubstitution - coding silent
BAIAP3ENSG00000007516ENST00000324385p.L452Lc.1356G>ASubstitution - coding silent
ASAH2ENSG00000188611ENST00000395526p.V6Mc.16G>ASubstitution - Missense
A1CFENSG00000148584ENST00000282641p.A514Tc.1540G>ASubstitution - Missense
A1CFENSG00000148584ENST00000374001p.A506Tc.1516G>ASubstitution - Missense
AGAP6ENSG00000204149ENST00000374056p.I164Vc.490A>GSubstitution - Missense
MBL2ENSG00000165471ENST00000373968p.A34Vc.101C>TSubstitution - Missense
TBATAENSG00000166220ENST00000299290p.V127Ic.379G>ASubstitution - Missense
COL13A1ENSG00000197467ENST00000398978p.V246Lc.736G>CSubstitution - Missense
CCAR1ENSG00000060339ENST00000265872p.T263Ic.788C>TSubstitution - Missense
CCDC88BENSG00000168071ENST00000356786p.P576Pc.1728G>ASubstitution - coding silent
RPS6KA4ENSG00000162302ENST00000334205p.V146Vc.438G>ASubstitution - coding silent
RPS6KA4ENSG00000162302ENST00000334205p.V146Vc.438G>ASubstitution - coding silent
ENST00000328404_v68p.R166Qc.497G>ASubstitution - Missense
OTUB1ENSG00000167770ENST00000428192p.P246Pc.738G>ASubstitution - coding silent
TIGD3ENSG00000173825ENST00000309880p.T293Tc.879G>ASubstitution - coding silent
ZFPL1ENSG00000162300ENST00000294258p.R306Hc.917G>ASubstitution - Missense
ZNHIT2ENSG00000174276ENST00000310597p.P185Pc.555G>CSubstitution - coding silent
MAP4K2ENSG00000168067ENST00000294066p.Q269*c.805C>TSubstitution - Nonsense
SLC22A12ENSG00000197891ENST00000377574p.Y253Yc.759C>TSubstitution - coding silent
DNHD1ENSG00000179532ENST00000254579p.A1994Tc.5980G>ASubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.T1695Tc.5085G>ASubstitution - coding silent
LTBP3ENSG00000168056ENST00000322147p.D477Dc.1431C>TSubstitution - coding silent
BMP8BENSG00000116985ENST00000372827p.?c.869-3C>TUnknown
PABPC4ENSG00000090621ENST00000372858p.R265Cc.793C>TSubstitution - Missense
KIAA0754ENSG00000255103ENST00000530275p.A1189Vc.3566C>TSubstitution - Missense
AKIRIN1ENSG00000174574ENST00000432648p.Q158*c.472C>TSubstitution - Nonsense
TIE1ENSG00000066056ENST00000372476p.V597Ic.1789G>ASubstitution - Missense
LEPRE1ENSG00000117385ENST00000236040p.R471Wc.1411C>TSubstitution - Missense
SLFNL1ENSG00000171790ENST00000359345p.V243Mc.727G>ASubstitution - Missense
MFSD2AENSG00000168389ENST00000372811p.L243Lc.729G>TSubstitution - coding silent
SZT2ENSG00000198198ENST00000562955p.C738Yc.2213G>ASubstitution - Missense
ZSWIM5ENSG00000162415ENST00000359600p.S476Nc.1427G>ASubstitution - Missense
RNF220ENSG00000187147ENST00000361799p.A6Vc.17C>TSubstitution - Missense
RNF220ENSG00000187147ENST00000355387p.A6Vc.17C>TSubstitution - Missense
ATP6V0BENSG00000117410ENST00000472174p.S136Sc.408C>TSubstitution - coding silent
B4GALT2ENSG00000117411ENST00000309519p.L138Vc.412C>GSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.R480Rc.1440C>TSubstitution - coding silent
DLGAP3ENSG00000116544ENST00000373347p.G317Gc.951C>TSubstitution - coding silent
LRRC47ENSG00000130764ENST00000378251p.L572Lc.1714C>TSubstitution - coding silent
OCA2ENSG00000104044ENST00000354638p.L683Lc.2047C>TSubstitution - coding silent
GABRA5ENSG00000186297ENST00000335625p.V331Ic.991G>ASubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.D545Dc.1635C>TSubstitution - coding silent
SLC35E2BENSG00000189339ENST00000378662p.?c.835-5C>TUnknown
ENST00000368102_v68p.S113Nc.338G>ASubstitution - Missense
SLAMF8ENSG00000158714ENST00000289707p.S219Sc.657C>TSubstitution - coding silent
FAN1ENSG00000198690ENST00000362065p.A412Tc.1234G>ASubstitution - Missense
FAN1ENSG00000198690ENST00000561594p.A412Tc.1234G>ASubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.S905Nc.2714G>ASubstitution - Missense
COPAENSG00000122218ENST00000368069p.A376Tc.1126G>ASubstitution - Missense
COPAENSG00000122218ENST00000241704p.A376Tc.1126G>ASubstitution - Missense
PEA15ENSG00000162734ENST00000368076p.C9Yc.26G>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.I56Ic.168C>TSubstitution - coding silent
ADAMTS4ENSG00000158859ENST00000367995p.P326Lc.977C>TSubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.A187Tc.559G>ASubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.V149Mc.445G>ASubstitution - Missense
NM_001787p.A612Ac.1836C>TSubstitution - coding silent
CDK11AENSG00000008128ENST00000357760p.A596Ac.1788C>TSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.S3299Sc.9897C>TSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.R1529Hc.4586G>ASubstitution - Missense
USH1CENSG00000006611ENST00000318024p.C224Cc.672C>TSubstitution - coding silent
KRTAP5-4ENSG00000241598ENST00000399682p.C134Yc.401G>ASubstitution - Missense
PLEKHA7ENSG00000166689ENST00000355661p.R1039Wc.3115C>TSubstitution - Missense
TNNT3ENSG00000130595ENST00000278317p.D57Yc.169G>TSubstitution - Missense
TNNT3ENSG00000130595ENST00000381589p.D55Yc.163G>TSubstitution - Missense
HPS5ENSG00000110756ENST00000349215p.?c.2837+4C>TUnknown
CEP350ENSG00000135837ENST00000367607p.R496Qc.1487G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.R496Qc.1487G>ASubstitution - Missense
SHCBP1LENSG00000157060ENST00000367547p.E319Kc.955G>ASubstitution - Missense
NM_002849.2p.L96Lc.288G>ASubstitution - coding silent
BCO2ENSG00000197580ENST00000357685p.V335Mc.1003G>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.R235Rc.705C>TSubstitution - coding silent
HTR3AENSG00000166736ENST00000355556p.F131Fc.393C>TSubstitution - coding silent
NM_182557.1p.Q840*c.2518C>TSubstitution - Nonsense
KMT2AENSG00000118058ENST00000534358p.S1257Sc.3771C>TSubstitution - coding silent
NM_005933.1p.S1257Sc.3771C>TSubstitution - coding silent
POU2F3ENSG00000137709ENST00000260264p.L65Lc.193C>TSubstitution - coding silent
POU2F3ENSG00000137709ENST00000260264p.S259Fc.776C>TSubstitution - Missense
USP2ENSG00000036672ENST00000260187p.R62Hc.185G>ASubstitution - Missense
MMP8ENSG00000118113ENST00000236826p.D300Dc.900C>TSubstitution - coding silent
BIRC3ENSG00000023445ENST00000263464p.?c.1580-1G>AUnknown
KBTBD3ENSG00000182359ENST00000526793p.Q43*c.127C>TSubstitution - Nonsense
NAV2ENSG00000166833ENST00000360655p.L734Lc.2202G>ASubstitution - coding silent
ENSG00000170276ENST00000304298p.H82Qc.246C>GSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.N530Nc.1590C>TSubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.H2192Yc.6574C>TSubstitution - Missense
TRPM5ENSG00000070985ENST00000155858p.P731Pc.2193C>TSubstitution - coding silent
PSMD13ENSG00000185627ENST00000431206p.R180Wc.538C>TSubstitution - Missense
PSMD13ENSG00000185627ENST00000532097p.R178Wc.532C>TSubstitution - Missense
CCDC73ENSG00000186714ENST00000335185p.K84Kc.252G>ASubstitution - coding silent
CASZ1ENSG00000130940ENST00000377022p.T1472Mc.4415C>TSubstitution - Missense
ABTB2ENSG00000166016ENST00000298992p.R252Rc.756C>TSubstitution - coding silent
ZNF195ENSG00000005801ENST00000399602p.L126Lc.376C>TSubstitution - coding silent
AMIGO1ENSG00000181754ENST00000369862p.Q237*c.709C>TSubstitution - Nonsense
WDR47ENSG00000085433ENST00000369965p.Q894Qc.2682G>ASubstitution - coding silent
GPSM2ENSG00000121957ENST00000406462p.S327Sc.981C>TSubstitution - coding silent
CSF1ENSG00000184371ENST00000369802p.S214Sc.642C>TSubstitution - coding silent
PIAS3ENSG00000131788ENST00000393045p.V316Lc.946G>TSubstitution - Missense
HFE2ENSG00000168509ENST00000336751p.L314Lc.942G>ASubstitution - coding silent
MAGI3ENSG00000081026ENST00000307546p.L956Lc.2868G>ASubstitution - coding silent
MAGI3ENSG00000081026ENST00000369615p.L956Lc.2868G>ASubstitution - coding silent
RSBN1ENSG00000081019ENST00000261441p.L794Lc.2382G>ASubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.L1618Lc.4852C>TSubstitution - coding silent
PGA5ENSG00000256713ENST00000312403p.P245Lc.734C>TSubstitution - Missense
CD5ENSG00000110448ENST00000347785p.L394Lc.1180C>TSubstitution - coding silent
CD6ENSG00000013725ENST00000313421p.C274Cc.822C>TSubstitution - coding silent
CD6ENSG00000013725ENST00000313421p.C274Cc.822C>TSubstitution - coding silent
INTS5ENSG00000185085ENST00000330574p.Q195*c.583C>TSubstitution - Nonsense
ROM1ENSG00000149489ENST00000278833p.L28Lc.82C>TSubstitution - coding silent
GANABENSG00000089597ENST00000346178p.A668Vc.2003C>TSubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.S999Sc.2997C>TSubstitution - coding silent
RCE1ENSG00000173653ENST00000309657p.Q96*c.286C>TSubstitution - Nonsense
SPTBN2ENSG00000173898ENST00000309996p.R1899Hc.5696G>ASubstitution - Missense
BBS1ENSG00000174483ENST00000318312p.T446Tc.1338C>TSubstitution - coding silent
ENSG00000256349ENST00000419755p.T483Tc.1449C>TSubstitution - coding silent
TPCN2ENSG00000162341ENST00000294309p.C122Cc.366C>TSubstitution - coding silent
ALDH3B2ENSG00000132746ENST00000530069p.R276Qc.827G>ASubstitution - Missense
RAD9AENSG00000172613ENST00000307980p.S237Nc.710G>ASubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.?c.1951-3C>TUnknown
ANO1ENSG00000131620ENST00000355303p.?c.1951-3C>TUnknown
ENST00000251757p.Q390*c.1168C>TSubstitution - Nonsense
CLYBLENSG00000125246ENST00000416504p.L137Fc.409C>TSubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.H1372Yc.4114C>TSubstitution - Missense
NM_018979p.H1112Yc.3334C>TSubstitution - Missense
ENST00000342887p.R249*c.745C>TSubstitution - Nonsense
TEX30ENSG00000151287ENST00000376021p.Q176Qc.528A>GSubstitution - coding silent
RGS7ENSG00000182901ENST00000407727p.L488Lc.1464G>ASubstitution - coding silent
RGS7ENSG00000182901ENST00000407727p.T126Ic.377C>TSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1125Pc.3375C>TSubstitution - coding silent
ZP4ENSG00000116996ENST00000366570p.?c.1312-1G>AUnknown
IL22RA1ENSG00000142677ENST00000270800p.A17Tc.49G>ASubstitution - Missense
IFNLR1ENSG00000185436ENST00000327535p.A486Vc.1457C>TSubstitution - Missense
AKT3ENSG00000117020ENST00000336199p.?c.627+1G>AUnknown
IFNLR1ENSG00000185436ENST00000327535p.L239Lc.715C>TSubstitution - coding silent
HNRNPUENSG00000153187ENST00000283179p.D154Dc.462C>TSubstitution - coding silent
HNRNPUENSG00000153187ENST00000444376p.D154Dc.462C>TSubstitution - coding silent
RAB11FIP2ENSG00000107560ENST00000355624p.E327Ec.981A>GSubstitution - coding silent
HPS1ENSG00000107521ENST00000325103p.T677Ic.2030C>TSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.T2373Tc.7119C>TSubstitution - coding silent
TACC2ENSG00000138162ENST00000369005p.E894Ec.2682G>ASubstitution - coding silent
CHUKENSG00000213341ENST00000370397p.R646fs*22c.1936delADeletion - Frameshift
ABCC2ENSG00000023839ENST00000370449p.G1334Gc.4002C>TSubstitution - coding silent
SH3PXD2AENSG00000107957ENST00000355946p.G930Gc.2790C>TSubstitution - coding silent
GBF1ENSG00000107862ENST00000369983p.S820Sc.2460C>TSubstitution - coding silent
FOLR4ENSG00000183560ENST00000328458p.R199Wc.595C>TSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.T689Ic.2066C>TSubstitution - Missense
MTMR2ENSG00000087053ENST00000346299p.?c.1770+1G>AUnknown
GLT8D2ENSG00000120820ENST00000360814p.L135Lc.403C>TSubstitution - coding silent
ARID2ENSG00000189079ENST00000334344p.Q672*c.2014C>TSubstitution - Nonsense
RXFP2ENSG00000133105ENST00000298386p.A180Vc.539C>TSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.L480Lc.1440G>ASubstitution - coding silent
F5ENSG00000198734ENST00000367797p.C1907Yc.5720G>ASubstitution - Missense
TRPC4ENSG00000133107ENST00000379705p.C181Cc.543C>TSubstitution - coding silent
RC3H1ENSG00000135870ENST00000258349p.S433Sc.1299C>TSubstitution - coding silent
SPOCD1ENSG00000134668ENST00000360482p.L802Lc.2404C>TSubstitution - coding silent
MEGF6ENSG00000162591ENST00000356575p.G190Sc.568G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.P2719Lc.8156C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.P2742Lc.8225C>TSubstitution - Missense
STK40ENSG00000196182ENST00000373129p.Q64Qc.192G>ASubstitution - coding silent
STK40ENSG00000196182ENST00000373129p.Q64Qc.192G>ASubstitution - coding silent
SH3D21ENSG00000214193ENST00000312808p.T178Tc.534G>ASubstitution - coding silent
STK40ENSG00000196182ENST00000359297p.H195Hc.585C>TSubstitution - coding silent
AGO4ENSG00000134698ENST00000373210p.A720Vc.2159C>TSubstitution - Missense
AGO1ENSG00000092847ENST00000373204p.Q358Qc.1074G>ASubstitution - coding silent
TP73ENSG00000078900ENST00000378288p.G215Wc.643G>TSubstitution - Missense
ENST00000314607_v71p.A586Tc.1756G>ASubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.L878Lc.2634G>ASubstitution - coding silent
NECAP1ENSG00000089818ENST00000339754p.R29Rc.87C>TSubstitution - coding silent
PPFIA2ENSG00000139220ENST00000549396p.R479Hc.1436G>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.A894Tc.2680G>ASubstitution - Missense
ACTA1ENSG00000143632ENST00000366684p.A321Tc.961G>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000374644p.T168Tc.504G>ASubstitution - coding silent
AGTENSG00000135744ENST00000366667p.L386Lc.1158G>ASubstitution - coding silent
AGTENSG00000135744ENST00000366667p.V209Vc.627G>ASubstitution - coding silent
NID1ENSG00000116962ENST00000264187p.V975Ic.2923G>ASubstitution - Missense
ENST00000279593p.G128Gc.384G>ASubstitution - coding silent
DDX23ENSG00000174243ENST00000308025p.E82Dc.246G>CSubstitution - Missense
CCDC65ENSG00000139537ENST00000320516p.F175Fc.525C>TSubstitution - coding silent
WNT1ENSG00000125084ENST00000293549p.?c.105-6C>TUnknown
GALNT8ENSG00000130035ENST00000252318p.G561Dc.1682G>ASubstitution - Missense
PRPF40BENSG00000110844ENST00000380281p.R860Wc.2578C>TSubstitution - Missense
LMBR1LENSG00000139636ENST00000267102p.?c.192-6G>AUnknown
NM_018113.1p.?c.177-6G>AUnknown
KMT2DENSG00000167548ENST00000301067p.V38Mc.112G>ASubstitution - Missense
SLC4A8ENSG00000050438ENST00000358657p.L915Lc.2743C>TSubstitution - coding silent
LARP4ENSG00000161813ENST00000398473p.Q243Qc.729G>ASubstitution - coding silent
ENST00000543899p.G375Dc.1124G>ASubstitution - Missense
IL16ENSG00000172349ENST00000302987p.E1030Kc.3088G>ASubstitution - Missense
NM_172217.1p.E1013Kc.3037G>ASubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.K135Kc.405G>ASubstitution - coding silent
ADAMTSL3ENSG00000156218ENST00000286744p.T1662Ic.4985C>TSubstitution - Missense
ENST00000268134p.E368Dc.1104G>TSubstitution - Missense
ACANENSG00000157766ENST00000439576p.E368Dc.1104G>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.A835Ac.2505G>ASubstitution - coding silent
ARAP1ENSG00000186635ENST00000334211p.A590Ac.1770G>ASubstitution - coding silent
ARAP1ENSG00000186635ENST00000393609p.G384Rc.1150G>ASubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.G139Rc.415G>ASubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.Q349*c.1045C>TSubstitution - Nonsense
ENSG00000187811ENST00000343767p.V75Ic.223G>ASubstitution - Missense
ENST00000343767_v68p.V75Ic.223G>ASubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.K2114Kc.6342G>ASubstitution - coding silent
C2CD3ENSG00000168014ENST00000334126p.G158Rc.472G>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.A2302Tc.6904G>ASubstitution - Missense
P2RY2ENSG00000175591ENST00000393596p.A367Vc.1100C>TSubstitution - Missense
PDDC1ENSG00000177225ENST00000397472p.A205Vc.614C>TSubstitution - Missense
B3GNT6ENSG00000198488ENST00000533140p.A25Tc.73G>ASubstitution - Missense
B3GNT6ENSG00000198488ENST00000354301p.A25Tc.73G>ASubstitution - Missense
INTS4ENSG00000149262ENST00000534064p.T434Ic.1301C>TSubstitution - Missense
ALG8ENSG00000159063ENST00000299626p.K199Kc.597G>ASubstitution - coding silent
LHPPENSG00000107902ENST00000368842p.Q140Qc.420G>ASubstitution - coding silent
SEPHS1ENSG00000086475ENST00000327347p.?c.194-10A>GUnknown
ENST00000361282p.C786Cc.2358C>TSubstitution - coding silent
TUBGCP2ENSG00000130640ENST00000252936p.V589Vc.1767C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.?c.4611-6C>TUnknown
C14orf80ENSG00000185347ENST00000392522p.P124Pc.372C>TSubstitution - coding silent
BRF1ENSG00000185024ENST00000546474p.?c.472-8C>TUnknown
AHNAK2ENSG00000185567ENST00000333244p.S2340Sc.7020A>GSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.S4046Nc.12137G>ASubstitution - Missense
METTL17ENSG00000165792ENST00000382985p.A71Ac.213C>ASubstitution - coding silent
METTL17ENSG00000165792ENST00000339374p.A71Ac.213C>ASubstitution - coding silent
C14orf119ENSG00000179933ENST00000319074p.R87*c.259C>TSubstitution - Nonsense
ABHD4ENSG00000100439ENST00000428304p.G80Gc.240C>TSubstitution - coding silent
CPNE6ENSG00000100884ENST00000397016p.C328Yc.983G>ASubstitution - Missense
G2E3ENSG00000092140ENST00000206595p.R18*c.52C>TSubstitution - Nonsense
CBLN3ENSG00000139899ENST00000267406p.T147Mc.440C>TSubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.G198Gc.594C>TSubstitution - coding silent
LTB4RENSG00000213903ENST00000396782p.L20Lc.58C>TSubstitution - coding silent
MS4A2ENSG00000149534ENST00000278888p.E57fs*28c.168_169insAInsertion - Frameshift
FADS3ENSG00000221968ENST00000278829p.H213Hc.639C>TSubstitution - coding silent
MYRFENSG00000124920ENST00000278836p.?c.2486+1G>AUnknown
SMARCC2ENSG00000139613ENST00000267064p.?c.1771-3C>TUnknown
ENST00000326184p.C995Yc.2984G>ASubstitution - Missense
ENST00000326184p.R859Hc.2576G>ASubstitution - Missense
LOXL1ENSG00000129038ENST00000261921p.C508Cc.1524C>TSubstitution - coding silent
CELF6ENSG00000140488ENST00000287202p.G129Gc.387C>TSubstitution - coding silent
THSD4ENSG00000187720ENST00000355327p.C1001Yc.3002G>ASubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.D987Dc.2961C>TSubstitution - coding silent
SCAPERENSG00000140386ENST00000324767p.V119Ic.355G>ASubstitution - Missense
KCTD4ENSG00000180332ENST00000379108p.V89Ic.265G>ASubstitution - Missense
CDADC1ENSG00000102543ENST00000251108p.S476Sc.1428A>GSubstitution - coding silent
MTERFD3ENSG00000120832ENST00000392830p.Q304*c.910C>TSubstitution - Nonsense
CKAP4ENSG00000136026ENST00000378026p.T353Tc.1059G>ASubstitution - coding silent
KLHL1ENSG00000150361ENST00000377844p.Q578Kc.1732C>ASubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.R312Wc.934C>TSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.T979Ic.2936C>TSubstitution - Missense
WSCD2ENSG00000075035ENST00000261400p.A465Tc.1393G>ASubstitution - Missense
TBC1D4ENSG00000136111ENST00000377636p.P408Sc.1222C>TSubstitution - Missense
ENST00000377560_v62p.G2094Rc.6280G>ASubstitution - Missense
ENST00000377560_v62p.L3770Lc.11308C>TSubstitution - coding silent
DOCK9ENSG00000088387ENST00000339416p.A1946Vc.5837C>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.G1909Gc.5727C>TSubstitution - coding silent
ENST00000357329p.G1910Gc.5730C>TSubstitution - coding silent
MBNL2ENSG00000139793ENST00000345429p.Q302Qc.906G>ASubstitution - coding silent
MBNL2ENSG00000139793ENST00000343600p.Q302Qc.906G>ASubstitution - coding silent
DIP2CENSG00000151240ENST00000280886p.M1322Tc.3965T>CSubstitution - Missense
USP48ENSG00000090686ENST00000308271p.A356Tc.1066G>ASubstitution - Missense
SKIENSG00000157933ENST00000378536p.Q427*c.1279C>TSubstitution - Nonsense
MRPL55ENSG00000162910ENST00000366731p.L47Lc.139C>TSubstitution - coding silent
MRPL55ENSG00000162910ENST00000366746p.L11Lc.31C>TSubstitution - coding silent
PSEN2ENSG00000143801ENST00000391872p.A18Tc.52G>ASubstitution - Missense
POLR3AENSG00000148606ENST00000372371p.Q967*c.2899C>TSubstitution - Nonsense
LDB3ENSG00000122367ENST00000429277p.M655Tc.1964T>CSubstitution - Missense
SFTPDENSG00000133661ENST00000372292p.C373Cc.1119C>TSubstitution - coding silent
MAT1AENSG00000151224ENST00000372213p.T240Tc.720C>TSubstitution - coding silent
LIPKENSG00000204021ENST00000404190p.V245Vc.735G>CSubstitution - coding silent
ENST00000330762p.R271Qc.812G>ASubstitution - Missense
CYP26A1ENSG00000095596ENST00000371531p.S76Nc.227G>ASubstitution - Missense
ENST00000371206p.A292Tc.874G>ASubstitution - Missense
TECTAENSG00000109927ENST00000392793p.C1389Yc.4166G>ASubstitution - Missense
OR10G6ENSG00000198674ENST00000307002p.A222Tc.664G>ASubstitution - Missense
OR6X1ENSG00000221931ENST00000327930p.D119Nc.355G>ASubstitution - Missense
STT3AENSG00000134910ENST00000392708p.R506*c.1516C>TSubstitution - Nonsense
PARVAENSG00000197702ENST00000538608p.T222Ic.665C>TSubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.Q469Qc.1407G>ASubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000392657p.K11Kc.33G>ASubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.R1506Wc.4516C>TSubstitution - Missense
LRP4ENSG00000134569ENST00000378623p.?c.53-1G>AUnknown
AMBRA1ENSG00000110497ENST00000314845p.T536Tc.1608G>ASubstitution - coding silent
AMBRA1ENSG00000110497ENST00000458649p.T626Tc.1878G>ASubstitution - coding silent
CELF1ENSG00000149187ENST00000358597p.P55Pc.165G>ASubstitution - coding silent
GPATCH4ENSG00000160818ENST00000368232p.A183Vc.548C>TSubstitution - Missense
RHBGENSG00000132677ENST00000368249p.A179Ac.537C>TSubstitution - coding silent
RHBGENSG00000132677ENST00000368246p.A179Ac.537C>TSubstitution - coding silent
RHBGENSG00000132677ENST00000400992p.A147Ac.441C>TSubstitution - coding silent
PEAR1ENSG00000187800ENST00000338302p.C187Yc.560G>ASubstitution - Missense
PYHIN1ENSG00000163564ENST00000368140p.T334Mc.1001C>TSubstitution - Missense
PYHIN1ENSG00000163564ENST00000368140p.K349Ec.1045A>GSubstitution - Missense
PYHIN1ENSG00000163564ENST00000392254p.K349Ec.1045A>GSubstitution - Missense
OR6N1ENSG00000197403ENST00000335094p.V280Mc.838G>ASubstitution - Missense
SDR9C7ENSG00000170426ENST00000293502p.M250Ic.750G>ASubstitution - Missense
AVPR1AENSG00000166148ENST00000299178p.A262Ac.786G>ASubstitution - coding silent
AVPR1AENSG00000166148ENST00000299178p.S16Nc.47G>ASubstitution - Missense
ENST00000327087_v68p.L167Lc.499C>TSubstitution - coding silent
ANO2ENSG00000047617ENST00000546188p.L167Lc.499C>TSubstitution - coding silent
LEPRE1ENSG00000117385ENST00000236040p.L376Fc.1126C>TSubstitution - Missense
LEPRE1ENSG00000117385ENST00000296388p.L376Fc.1126C>TSubstitution - Missense
INPP5JENSG00000185133ENST00000331075p.G532Sc.1594G>ASubstitution - Missense
ENST00000221482p.R1011Wc.3031C>TSubstitution - Missense
SU_KSR1p.S406Yc.1217C>ASubstitution - Missense
NADK2ENSG00000152620ENST00000381937p.V122Ic.364G>ASubstitution - Missense
CORO7ENSG00000262246ENST00000251166p.L252Mc.754C>ASubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.R1423Wc.4267C>TSubstitution - Missense
SLC25A37ENSG00000147454ENST00000519973p.R330Hc.989G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.V1614Mc.4840G>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.C318Yc.953G>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.C318Yc.953G>ASubstitution - Missense
SGSM3ENSG00000100359ENST00000248929p.T553Mc.1658C>TSubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.G340Cc.1018G>TSubstitution - Missense
BRAT1ENSG00000106009ENST00000340611p.M775Ic.2325G>ASubstitution - Missense
DCAF10ENSG00000122741ENST00000377724p.R519Wc.1555C>TSubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.P1387Lc.4160C>TSubstitution - Missense
PHYHD1ENSG00000175287ENST00000308941p.Q224Qc.672G>ASubstitution - coding silent
LIPEENSG00000079435ENST00000244289p.R636Cc.1906C>TSubstitution - Missense
GUCY2DENSG00000132518ENST00000254854p.R964Cc.2890C>TSubstitution - Missense
ANAPC2ENSG00000176248ENST00000323927p.R575Qc.1724G>ASubstitution - Missense
NM_018248.1p.P467Pc.1401G>ASubstitution - coding silent
RARRES1ENSG00000118849ENST00000237696p.N170Tc.509A>CSubstitution - Missense
CDX2ENSG00000165556ENST00000381020p.V306fs*2c.916delGDeletion - Frameshift
KLRK1ENSG00000213809ENST00000240618p.F55fs*7c.164delTDeletion - Frameshift
MYO3AENSG00000095777ENST00000265944p.G906Gc.2718C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.R3320Wc.9958C>TSubstitution - Missense
SU_OBSCN.1p.R3190Wc.9568C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.R3419Wc.10255C>TSubstitution - Missense
PRUNEENSG00000143363ENST00000271620p.T410Tc.1230G>ASubstitution - coding silent
FBN3ENSG00000142449ENST00000270509p.R848Cc.2542C>TSubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.K723fs*45c.2162delADeletion - Frameshift
TOP3AENSG00000177302ENST00000321105p.R138Rc.414C>TSubstitution - coding silent
WHSC1ENSG00000109685ENST00000382891p.P1343fs*>23c.4021delCDeletion - Frameshift
STAB1ENSG00000010327ENST00000321725p.T2153Tc.6459C>TSubstitution - coding silent
GMCL1ENSG00000087338ENST00000282570p.D109Dc.327C>TSubstitution - coding silent
ADAMTS13ENSG00000160323ENST00000371929p.R660Wc.1978C>TSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.P1131Pc.3393G>ASubstitution - coding silent
GIMAP8ENSG00000171115ENST00000307271p.T376Tc.1128G>ASubstitution - coding silent
SPTBN4ENSG00000160460ENST00000392023p.T8Tc.24G>ASubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.R467*c.1399C>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000455263p.R273Hc.818G>ASubstitution - Missense
PKD1L2ENSG00000166473ENST00000337114p.P627Lc.1880C>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.P627Lc.1880C>TSubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.R707Cc.2119C>TSubstitution - Missense
KDRENSG00000128052ENST00000263923p.?c.798+6G>AUnknown
CD55ENSG00000196352ENST00000367064p.Y133*c.399C>GSubstitution - Nonsense
CR2ENSG00000117322ENST00000367057p.T209Ic.626C>TSubstitution - Missense
CR2ENSG00000117322ENST00000367057p.R716Gc.2146C>GSubstitution - Missense
C1orf147ENSG00000162888ENST00000367119p.P114Pc.342C>GSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000264211p.C336Cc.1008C>TSubstitution - coding silent
NSL1ENSG00000117697ENST00000366977p.Q58*c.172C>TSubstitution - Nonsense
ENST00000333854p.V222Ic.664G>ASubstitution - Missense
PRKCZENSG00000067606ENST00000378567p.?c.1197+4C>TUnknown
USH2AENSG00000042781ENST00000307340p.S2840Yc.8519C>ASubstitution - Missense
SKIENSG00000157933ENST00000378536p.D133Ec.399C>GSubstitution - Missense
SKIENSG00000157933ENST00000378536p.I148Ic.444C>TSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000264211p.Q83fs*43c.247delCDeletion - Frameshift
EIF4G3ENSG00000075151ENST00000374937p.C342Cc.1026C>TSubstitution - coding silent
KRT77ENSG00000189182ENST00000341809p.V389Ic.1165G>ASubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.A466Vc.1397C>TSubstitution - Missense
GPR84ENSG00000139572ENST00000267015p.L141Lc.421C>TSubstitution - coding silent
AMHR2ENSG00000135409ENST00000257863p.T108Pc.322A>CSubstitution - Missense
PRR13ENSG00000205352ENST00000379786p.G83Gc.249C>TSubstitution - coding silent
GRAMD4ENSG00000075240ENST00000361034p.R71Qc.212G>ASubstitution - Missense
DPY19L4ENSG00000156162ENST00000414645p.H74Yc.220C>TSubstitution - Missense
KDM5CENSG00000126012ENST00000452825p.R246Qc.737G>ASubstitution - Missense
FAM161AENSG00000170264ENST00000405894p.V515Mc.1543G>ASubstitution - Missense
RTN4IP1ENSG00000130347ENST00000369063p.A80Tc.238G>ASubstitution - Missense
GUSBENSG00000169919ENST00000304895p.V482Mc.1444G>ASubstitution - Missense
NLGN3ENSG00000196338ENST00000358741p.T666Ic.1997C>TSubstitution - Missense
NLGN3ENSG00000196338ENST00000374051p.T646Ic.1937C>TSubstitution - Missense
ZDHHC1ENSG00000159714ENST00000348579p.T224Mc.671C>TSubstitution - Missense
MAFGENSG00000197063ENST00000357736p.S99Nc.296G>ASubstitution - Missense
ENST00000419043p.R200Cc.598C>TSubstitution - Missense
RPP40ENSG00000124787ENST00000380051p.C265Yc.794G>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.S874Nc.2621G>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.S1112Nc.3335G>ASubstitution - Missense
DUSP3ENSG00000108861ENST00000226004p.R130Cc.388C>TSubstitution - Missense
ARPC1BENSG00000130429ENST00000252725p.G53Rc.157G>ASubstitution - Missense
COLCA2ENSG00000214290ENST00000398035p.N8Dc.22A>GSubstitution - Missense
ZNF598ENSG00000167962ENST00000431526p.S437Nc.1310G>ASubstitution - Missense
ENC1ENSG00000171617ENST00000302351p.R180Kc.539G>ASubstitution - Missense
CICENSG00000079432ENST00000160740p.A1142Tc.3424G>ASubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.G647Rc.1939G>ASubstitution - Missense
AQRENSG00000021776ENST00000156471p.H688Yc.2062C>TSubstitution - Missense
CPZENSG00000109625ENST00000360986p.G605Rc.1813G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.L3770Fc.11308C>TSubstitution - Missense
SMC1AENSG00000072501ENST00000322213p.M1028Ic.3084G>ASubstitution - Missense
MRRFENSG00000148187ENST00000344641p.A157Tc.469G>ASubstitution - Missense
SYMPKENSG00000125755ENST00000245934p.S212Rc.636C>ASubstitution - Missense
IPPENSG00000197429ENST00000396478p.E121Gc.362A>GSubstitution - Missense
CAMSAP3ENSG00000076826ENST00000160298p.A236Vc.707C>TSubstitution - Missense
PAPOLAENSG00000090060ENST00000216277p.R387Hc.1160G>ASubstitution - Missense
BUB3ENSG00000154473ENST00000368865p.S285Nc.854G>ASubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.P469Lc.1406C>TSubstitution - Missense
AAK1ENSG00000115977ENST00000409085p.A163Sc.487G>TSubstitution - Missense
NM_014911p.A163Sc.487G>TSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.L2140Rc.6419T>GSubstitution - Missense
HIP1ENSG00000127946ENST00000336926p.A734Tc.2200G>ASubstitution - Missense
TM7SF2ENSG00000149809ENST00000279263p.C406Yc.1217G>ASubstitution - Missense
WSB2ENSG00000176871ENST00000315436p.V155Ic.463G>ASubstitution - Missense
PTPRGENSG00000144724ENST00000474889p.A1432Vc.4295C>TSubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.S150Nc.449G>ASubstitution - Missense
ZBTB17ENSG00000116809ENST00000375743p.R625Wc.1873C>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.V2913Ic.8737G>ASubstitution - Missense
CYFIP2ENSG00000055163ENST00000318218p.R1134Wc.3400C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000442283p.R1134Wc.3400C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000377576p.R1109Wc.3325C>TSubstitution - Missense
TSPYL4ENSG00000187189ENST00000420283p.R331Hc.992G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.M363Ic.1089G>ASubstitution - Missense
TLE1ENSG00000196781ENST00000376499p.S736Cc.2207C>GSubstitution - Missense
C7orf55-LUC7L2ENSG00000146963ENST00000354926p.R314Cc.940C>TSubstitution - Missense
MLLT1ENSG00000130382ENST00000252674p.R206Hc.617G>ASubstitution - Missense
DDX18ENSG00000088205ENST00000263239p.T482Mc.1445C>TSubstitution - Missense
TTC37ENSG00000198677ENST00000358746p.A846Tc.2536G>ASubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.T154Rc.461C>GSubstitution - Missense
GAR1ENSG00000109534ENST00000226796p.H78Yc.232C>TSubstitution - Missense
NUDT6ENSG00000170917ENST00000304430p.V286Mc.856G>ASubstitution - Missense
STOML1ENSG00000067221ENST00000316900p.V145Ic.433G>ASubstitution - Missense
C6orf211ENSG00000146476ENST00000367294p.R38Qc.113G>ASubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.T747Ic.2240C>TSubstitution - Missense
IPO5ENSG00000065150ENST00000261574p.A356Tc.1066G>ASubstitution - Missense
DXOENSG00000204348ENST00000375349p.S262Nc.785G>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000359139p.S588Nc.1763G>ASubstitution - Missense
TP73ENSG00000078900ENST00000378295p.G264Wc.790G>TSubstitution - Missense
FIGNENSG00000182263ENST00000333129p.R48Hc.143G>ASubstitution - Missense
TSTA3ENSG00000104522ENST00000529064p.R9Wc.25C>TSubstitution - Missense
URB2ENSG00000135763ENST00000258243p.L12Fc.34C>TSubstitution - Missense
MCTS1ENSG00000232119ENST00000371317p.E7Kc.19G>ASubstitution - Missense
SMPD2ENSG00000135587ENST00000258052p.V376Ic.1126G>ASubstitution - Missense
IGF2BP3ENSG00000136231ENST00000258729p.P366Lc.1097C>TSubstitution - Missense
STRBPENSG00000165209ENST00000447404p.C287Yc.860G>ASubstitution - Missense
LPCAT2ENSG00000087253ENST00000262134p.R116Hc.347G>ASubstitution - Missense
PNMA3ENSG00000183837ENST00000447306p.A278Vc.833C>TSubstitution - Missense
CLCN5ENSG00000171365ENST00000376088p.V702Mc.2104G>ASubstitution - Missense
CLCN5ENSG00000171365ENST00000376108p.V632Mc.1894G>ASubstitution - Missense
MCM4ENSG00000104738ENST00000523944p.N242Dc.724A>GSubstitution - Missense
ERCC8ENSG00000049167ENST00000265038p.R197Hc.590G>ASubstitution - Missense
GDI1ENSG00000203879ENST00000447750p.E411Kc.1231G>ASubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.R1349Pc.4046G>CSubstitution - Missense
C16orf62ENSG00000103544ENST00000438132p.D1016Nc.3046G>ASubstitution - Missense
MAP3K9ENSG00000006432ENST00000555993p.R808Wc.2422C>TSubstitution - Missense
NUP153ENSG00000124789ENST00000262077p.V1454Mc.4360G>ASubstitution - Missense
FASTKD5ENSG00000215251ENST00000380266p.G677Rc.2029G>ASubstitution - Missense
NEURL4ENSG00000215041ENST00000399464p.C1343Yc.4028G>ASubstitution - Missense
BIRC2ENSG00000110330ENST00000227758p.T183Ic.548C>TSubstitution - Missense
PLOD2ENSG00000152952ENST00000282903p.V66Ac.197T>CSubstitution - Missense
ABCB7ENSG00000131269ENST00000253577p.A334Tc.1000G>ASubstitution - Missense
ECSITENSG00000130159ENST00000270517p.M117Ic.351G>ASubstitution - Missense
PREX1ENSG00000124126ENST00000396220p.S458Nc.1373G>ASubstitution - Missense
CRELD1ENSG00000163703ENST00000326434p.S207Nc.620G>ASubstitution - Missense
ZNF653ENSG00000161914ENST00000293771p.P409Lc.1226C>TSubstitution - Missense
HIRAENSG00000100084ENST00000263208p.A667Tc.1999G>ASubstitution - Missense
UQCRBENSG00000156467ENST00000287022p.Q5Hc.15G>TSubstitution - Missense
DTNBENSG00000138101ENST00000406818p.T212Ic.635C>TSubstitution - Missense
KALRNENSG00000160145ENST00000240874p.R292Qc.875G>ASubstitution - Missense
KALRNENSG00000160145ENST00000360013p.R292Qc.875G>ASubstitution - Missense
MED18ENSG00000130772ENST00000373842p.R150Hc.449G>ASubstitution - Missense
PRIMPOLENSG00000164306ENST00000314970p.Y100Hc.298T>CSubstitution - Missense
PSME4ENSG00000068878ENST00000404125p.A1104Vc.3311C>TSubstitution - Missense
PRPF40BENSG00000110844ENST00000380281p.A369Vc.1106C>TSubstitution - Missense
ZSCAN12ENSG00000158691ENST00000361028p.A477Tc.1429G>ASubstitution - Missense
EPS15ENSG00000085832ENST00000371733p.A223Tc.667G>ASubstitution - Missense
ZMYM4ENSG00000146463ENST00000314607p.A586Tc.1756G>ASubstitution - Missense
SEPT3ENSG00000100167ENST00000396426p.V86Lc.256G>CSubstitution - Missense
SEPT3ENSG00000100167ENST00000396425p.V86Lc.256G>CSubstitution - Missense
GJA5ENSG00000143140ENST00000369237p.H183Yc.547C>TSubstitution - Missense
PRKCSHENSG00000130175ENST00000252455p.G81Sc.241G>ASubstitution - Missense
C11orf84ENSG00000168005ENST00000294244p.T362Ic.1085C>TSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.K658Nc.1974G>TSubstitution - Missense
HLA-DPB1ENSG00000223865ENST00000418931p.S153Tc.458G>CSubstitution - Missense
SLC39A7ENSG00000112473ENST00000374675p.H112Yc.334C>TSubstitution - Missense
TJAP1ENSG00000137221ENST00000372444p.R345Hc.1034G>ASubstitution - Missense
OTTHUMT00000056248.1p.H231Yc.691C>TSubstitution - Missense
ZBTB9ENSG00000213588ENST00000395064p.V180Ic.538G>ASubstitution - Missense
ZNF226ENSG00000167380ENST00000454662p.C645Yc.1934G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.R1757Hc.5270G>ASubstitution - Missense
CHST14ENSG00000169105ENST00000306243p.L285Mc.853C>ASubstitution - Missense
PHC3ENSG00000173889ENST00000495893p.L351Ic.1051C>ASubstitution - Missense
MDP1ENSG00000213920ENST00000288087p.L134Vc.400C>GSubstitution - Missense
NM_020824.2p.R1858Cc.5572C>TSubstitution - Missense
ACADSENSG00000122971ENST00000242592p.S360Nc.1079G>ASubstitution - Missense
ABHD8ENSG00000127220ENST00000247706p.G171Cc.511G>TSubstitution - Missense
SGSM3ENSG00000100359ENST00000248929p.F617Sc.1850T>CSubstitution - Missense
HARS2ENSG00000112855ENST00000230771p.S384Nc.1151G>ASubstitution - Missense
DVL1ENSG00000107404ENST00000378891p.S177Rc.531C>ASubstitution - Missense
CLTBENSG00000175416ENST00000310418p.V180Mc.538G>ASubstitution - Missense
MAFGENSG00000197063ENST00000357736p.L44Mc.130C>ASubstitution - Missense
ENOPH1ENSG00000145293ENST00000273920p.M117Ic.351G>ASubstitution - Missense
TPM1ENSG00000140416ENST00000267996p.C190Sc.569G>CSubstitution - Missense
MCM6ENSG00000076003ENST00000264156p.G695Rc.2083G>ASubstitution - Missense
NETO2ENSG00000171208ENST00000562435p.P295Sc.883C>TSubstitution - Missense
C4orf27ENSG00000056050ENST00000393381p.A345Vc.1034C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.R1643Wc.4927C>TSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.V178Mc.532G>ASubstitution - Missense
KDM4BENSG00000127663ENST00000381759p.R296Wc.886C>TSubstitution - Missense
NCOA1ENSG00000084676ENST00000405141p.T257Mc.770C>TSubstitution - Missense
KSR1ENSG00000141068ENST00000319524p.R764Wc.2290C>TSubstitution - Missense
CUEDC1ENSG00000180891ENST00000577830p.S274Nc.821G>ASubstitution - Missense
NGLY1ENSG00000151092ENST00000280700p.T571Ic.1712C>TSubstitution - Missense
HCFC1ENSG00000172534ENST00000310441p.F1829Lc.5487C>ASubstitution - Missense
NM_005334.1p.F1732Lc.5196C>ASubstitution - Missense
STT3BENSG00000163527ENST00000295770p.G532Cc.1594G>TSubstitution - Missense
SCAF8ENSG00000213079ENST00000367178p.V43Mc.127G>ASubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.A1033Tc.3097G>ASubstitution - Missense
GRIK5ENSG00000105737ENST00000262895p.R361Wc.1081C>TSubstitution - Missense
NF2ENSG00000186575ENST00000338641p.A403Tc.1207G>ASubstitution - Missense
LOXENSG00000113083ENST00000231004p.P416Tc.1246C>ASubstitution - Missense
XKENSG00000047597ENST00000378616p.V209Ic.625G>ASubstitution - Missense
LRCH2ENSG00000130224ENST00000317135p.D129Nc.385G>ASubstitution - Missense
NM_020871.2p.D129Nc.385G>ASubstitution - Missense
UGDHENSG00000109814ENST00000316423p.T325Ic.974C>TSubstitution - Missense
TNFRSF11BENSG00000164761ENST00000297350p.R111Hc.332G>ASubstitution - Missense
ANKRD6ENSG00000135299ENST00000339746p.S309Nc.926G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.A3561Dc.10682C>ASubstitution - Missense
CYP4V2ENSG00000145476ENST00000378802p.A273Vc.818C>TSubstitution - Missense
DVL2ENSG00000004975ENST00000005340p.V334Mc.1000G>ASubstitution - Missense
ENST00000399953_v65p.S548Nc.1643G>ASubstitution - Missense
SAMHD1ENSG00000101347ENST00000262878p.A441Tc.1321G>ASubstitution - Missense
MKL2ENSG00000186260ENST00000318282p.T488Ic.1463C>TSubstitution - Missense
GGA3ENSG00000125447ENST00000245541p.A345Tc.1033G>ASubstitution - Missense
GRB2ENSG00000177885ENST00000392564p.P92Lc.275C>TSubstitution - Missense
MED15ENSG00000099917ENST00000263205p.T387Mc.1160C>TSubstitution - Missense
CAAP1ENSG00000120159ENST00000333916p.C226Yc.677G>ASubstitution - Missense
NM_182507.1p.T235Ic.704C>TSubstitution - Missense
KRT80ENSG00000167767ENST00000394815p.T200Ic.599C>TSubstitution - Missense
AP5S1ENSG00000125843ENST00000379567p.P40Lc.119C>TSubstitution - Missense
CTR9ENSG00000198730ENST00000361367p.R1077Qc.3230G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000357681p.S1196Nc.3587G>ASubstitution - Missense
FAM219AENSG00000164970ENST00000297620p.T96Mc.287C>TSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.S1415Lc.4244C>TSubstitution - Missense
GPR137ENSG00000173264ENST00000438980p.D180Hc.538G>CSubstitution - Missense
ZNF20ENSG00000132010ENST00000334213p.V191Ac.572T>CSubstitution - Missense
RNF38ENSG00000137075ENST00000259605p.P361Lc.1082C>TSubstitution - Missense
NCOA3ENSG00000124151ENST00000371998p.A213Tc.637G>ASubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.A392Vc.1175C>TSubstitution - Missense
BAZ2AENSG00000076108ENST00000379441p.A428Vc.1283C>TSubstitution - Missense
SLC25A51ENSG00000122696ENST00000377716p.G62Dc.185G>ASubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.G1343Rc.4027G>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.G2232Cc.6694G>TSubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.T195Ic.584C>TSubstitution - Missense
MLF1ENSG00000178053ENST00000355893p.R247Kc.740G>ASubstitution - Missense
KHNYNENSG00000100441ENST00000251343p.R373Wc.1117C>TSubstitution - Missense
SRPK1ENSG00000096063ENST00000373825p.C356Yc.1067G>ASubstitution - Missense
TAOK2ENSG00000149930ENST00000308893p.P824Hc.2471C>ASubstitution - Missense
LTBRENSG00000111321ENST00000228918p.P303Lc.908C>TSubstitution - Missense
LHFPL4ENSG00000156959ENST00000287585p.V124Ic.370G>ASubstitution - Missense
HSPA8ENSG00000109971ENST00000532636p.V317Ic.949G>ASubstitution - Missense
NOL8ENSG00000198000ENST00000545558p.R533Hc.1598G>ASubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.L551Vc.1651T>GSubstitution - Missense
C3orf70ENSG00000187068ENST00000335012p.E222Kc.664G>ASubstitution - Missense
SLCO4A1ENSG00000101187ENST00000370507p.R340Hc.1019G>ASubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.V214Ic.640G>ASubstitution - Missense
RFXANKENSG00000064490ENST00000303088p.V231Mc.691G>ASubstitution - Missense
NM_031968.1p.A243Vc.728C>TSubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.S1666Nc.4997G>ASubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.T847Mc.2540C>TSubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.T847Mc.2540C>TSubstitution - Missense
ENST00000058691p.M56Ic.168G>ASubstitution - Missense
FAM200AENSG00000221909ENST00000449309p.P13Lc.38C>TSubstitution - Missense
MBD5ENSG00000204406ENST00000407073p.D686Gc.2057A>GSubstitution - Missense
PPAPDC1BENSG00000147535ENST00000424479p.G169Wc.505G>TSubstitution - Missense
KIAA0586ENSG00000100578ENST00000261244p.L1193Mc.3577C>ASubstitution - Missense
KIAA0226ENSG00000145016ENST00000296343p.S399Nc.1196G>ASubstitution - Missense
KIAA0226ENSG00000145016ENST00000273582p.S339Nc.1016G>ASubstitution - Missense
KIAA0226ENSG00000145016ENST00000273582p.S232Nc.695G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.A43Vc.128C>TSubstitution - Missense
HADHAENSG00000084754ENST00000380649p.F744Ic.2230T>ASubstitution - Missense
STARD8ENSG00000130052ENST00000374599p.V22Ac.65T>CSubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.A1959Vc.5876C>TSubstitution - Missense
SETXENSG00000107290ENST00000224140p.S2398Lc.7193C>TSubstitution - Missense
MAN1C1ENSG00000117643ENST00000374332p.R263Hc.788G>ASubstitution - Missense
MEX3CENSG00000176624ENST00000406189p.A436Vc.1307C>TSubstitution - Missense
NM_016626.2p.A241Vc.722C>TSubstitution - Missense
RPL28ENSG00000108107ENST00000344063p.R94Kc.281G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.R213Hc.638G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.R213Hc.638G>ASubstitution - Missense
MAF1ENSG00000179632ENST00000322428p.C163Yc.488G>ASubstitution - Missense
KIRREL2ENSG00000126259ENST00000262625p.D428Yc.1282G>TSubstitution - Missense
TARDBPENSG00000120948ENST00000240185p.G37Rc.109G>ASubstitution - Missense
FASTKD5ENSG00000215251ENST00000380266p.E543Kc.1627G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.D1532Nc.4594G>ASubstitution - Missense
E2F3ENSG00000112242ENST00000346618p.S260Tc.778T>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.R427Qc.1280G>ASubstitution - Missense
CCM2ENSG00000136280ENST00000381112p.G407Sc.1219G>ASubstitution - Missense
PNRC1ENSG00000146278ENST00000336032p.E257Kc.769G>ASubstitution - Missense
SESN3ENSG00000149212ENST00000536441p.E344Dc.1032G>TSubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.S94Lc.281C>TSubstitution - Missense
ATP6V1E2ENSG00000250565ENST00000306448p.R212Qc.635G>ASubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.T662Ic.1985C>TSubstitution - Missense
MTSS1ENSG00000170873ENST00000518547p.R723Kc.2168G>ASubstitution - Missense
LASP1ENSG00000002834ENST00000318008p.A209Vc.626C>TSubstitution - Missense
XPNPEP1ENSG00000108039ENST00000502935p.T468Ic.1403C>TSubstitution - Missense
NDFIP2ENSG00000102471ENST00000218652p.E121Kc.361G>ASubstitution - Missense
NR1D1ENSG00000126368ENST00000246672p.A339Tc.1015G>ASubstitution - Missense
USP30ENSG00000135093ENST00000257548p.L118Sc.353T>CSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000253807p.A246Vc.737C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.R1000Kc.2999G>ASubstitution - Missense
ENST00000532796p.G315Rc.943G>ASubstitution - Missense
PPTC7ENSG00000196850ENST00000354300p.T220Mc.659C>TSubstitution - Missense
DHX8ENSG00000067596ENST00000262415p.P773Lc.2318C>TSubstitution - Missense
MAN2B1ENSG00000104774ENST00000221363p.T132Ic.395C>TSubstitution - Missense
RPS6KC1ENSG00000136643ENST00000366960p.A743Tc.2227G>ASubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.D544Nc.1630G>ASubstitution - Missense
SUSD1ENSG00000106868ENST00000374270p.G96Rc.286G>ASubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.C253Yc.758G>ASubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.T1036Ic.3107C>TSubstitution - Missense
TBC1D5ENSG00000131374ENST00000253692p.L320Sc.959T>CSubstitution - Missense
UBN2ENSG00000157741ENST00000288561p.R898Hc.2693G>ASubstitution - Missense
MAPTENSG00000186868ENST00000344290p.A485Tc.1453G>ASubstitution - Missense
PARP1ENSG00000143799ENST00000366794p.A178Vc.533C>TSubstitution - Missense
ZYG11AENSG00000203995ENST00000371528p.A134Vc.401C>TSubstitution - Missense
PROM2ENSG00000155066ENST00000317668p.L441Fc.1321C>TSubstitution - Missense
RPL34ENSG00000109475ENST00000394665p.A41Vc.122C>TSubstitution - Missense
KIAA1467ENSG00000084444ENST00000197268p.C397Yc.1190G>ASubstitution - Missense
MGAT4BENSG00000161013ENST00000337755p.R454Cc.1360C>TSubstitution - Missense
ENST00000372796p.R791Hc.2372G>ASubstitution - Missense
ENST00000303890p.R767Hc.2300G>ASubstitution - Missense
ZSCAN25ENSG00000197037ENST00000394152p.R96Hc.287G>ASubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.L1214Vc.3640C>GSubstitution - Missense
ENST00000270620p.Q97Rc.290A>GSubstitution - Missense
BRD7ENSG00000166164ENST00000394688p.A496Vc.1487C>TSubstitution - Missense
NM_018993.2p.M595Ic.1785G>ASubstitution - Missense
REREENSG00000142599ENST00000400908p.V197Mc.589G>ASubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.D81Nc.241G>ASubstitution - Missense
ZNF131ENSG00000172262ENST00000306938p.R222Cc.664C>TSubstitution - Missense
CD81ENSG00000110651ENST00000263645p.T153Mc.458C>TSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.T126Ic.377C>TSubstitution - Missense
BIVMENSG00000134897ENST00000257336p.D381Nc.1141G>ASubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.L397Sc.1190T>CSubstitution - Missense
BBXENSG00000114439ENST00000415149p.A755Sc.2263G>TSubstitution - Missense
TFDP1ENSG00000198176ENST00000375370p.V169Ic.505G>ASubstitution - Missense
ATG13ENSG00000175224ENST00000451945p.D108Nc.322G>ASubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.A764Tc.2290G>ASubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.R970Qc.2909G>ASubstitution - Missense
FDFT1ENSG00000079459ENST00000220584p.R110Wc.328C>TSubstitution - Missense
SEMA4GENSG00000095539ENST00000210633p.T243Mc.728C>TSubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.G638Rc.1912G>ASubstitution - Missense
CCNT1ENSG00000129315ENST00000261900p.R11Qc.32G>ASubstitution - Missense
TDP2ENSG00000111802ENST00000378198p.S101Nc.302G>ASubstitution - Missense
USP11ENSG00000102226ENST00000218348p.R144Cc.430C>TSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.T2219Ic.6656C>TSubstitution - Missense
PLS3ENSG00000102024ENST00000355899p.A337Vc.1010C>TSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.A419Tc.1255G>ASubstitution - Missense
USP9XENSG00000124486ENST00000324545p.S1872Nc.5615G>ASubstitution - Missense
TBC1D25ENSG00000068354ENST00000376771p.R121Cc.361C>TSubstitution - Missense
RCC1ENSG00000180198ENST00000373831p.G182Sc.544G>ASubstitution - Missense
KCND1ENSG00000102057ENST00000218176p.V94Mc.280G>ASubstitution - Missense
WDYHV1ENSG00000156795ENST00000287387p.F54Lc.162C>ASubstitution - Missense
BTN3A3ENSG00000111801ENST00000244519p.P560Lc.1679C>TSubstitution - Missense
USP18ENSG00000184979ENST00000215794p.K29Rc.86A>GSubstitution - Missense
CD247ENSG00000198821ENST00000362089p.A120Vc.359C>TSubstitution - Missense
KCNH3ENSG00000135519ENST00000257981p.S516Nc.1547G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.A4331Vc.12992C>TSubstitution - Missense
NM_015057.1p.S4331Fc.12992C>TSubstitution - Missense
DENND3ENSG00000105339ENST00000262585p.R215Wc.643C>TSubstitution - Missense
PTP4A3ENSG00000184489ENST00000521578p.R47Pc.140G>CSubstitution - Missense
GANABENSG00000089597ENST00000356638p.A646Vc.1937C>TSubstitution - Missense
TP53I13ENSG00000167543ENST00000301057p.A142Vc.425C>TSubstitution - Missense
NDUFS1ENSG00000023228ENST00000233190p.C226Yc.677G>ASubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.R1376Cc.4126C>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.R1376Cc.4126C>TSubstitution - Missense
CCKBRENSG00000110148ENST00000334619p.A62Vc.185C>TSubstitution - Missense
PABPC4ENSG00000090621ENST00000372857p.R265Cc.793C>TSubstitution - Missense
ZNF283ENSG00000167637ENST00000324461p.V141Lc.421G>CSubstitution - Missense
CAPN7ENSG00000131375ENST00000253693p.V293Mc.877G>ASubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.G872Ec.2615G>ASubstitution - Missense
ZBTB39ENSG00000166860ENST00000300101p.R468Qc.1403G>ASubstitution - Missense
RAP1GAPENSG00000076864ENST00000374765p.A559Vc.1676C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374761p.A590Vc.1769C>TSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.R756Qc.2267G>ASubstitution - Missense
PRMT5ENSG00000100462ENST00000397441p.S615Lc.1844C>TSubstitution - Missense
ATXN7ENSG00000163635ENST00000398590p.A596Vc.1787C>TSubstitution - Missense
FANCEENSG00000112039ENST00000229769p.T384Ic.1151C>TSubstitution - Missense
DGUOKENSG00000114956ENST00000264093p.L57Sc.170T>CSubstitution - Missense
MUTYHENSG00000132781ENST00000372098p.R200Hc.599G>ASubstitution - Missense
NRMENSG00000137404ENST00000259953p.A221Tc.661G>ASubstitution - Missense
KPNB1ENSG00000108424ENST00000290158p.A805Vc.2414C>TSubstitution - Missense
CENPBD1ENSG00000177946ENST00000314994p.A36Vc.107C>TSubstitution - Missense
RPUSD4ENSG00000165526ENST00000298317p.V259Mc.775G>ASubstitution - Missense
NINENSG00000100503ENST00000382041p.Q1982Rc.5945A>GSubstitution - Missense
NINENSG00000100503ENST00000245441p.Q1982Rc.5945A>GSubstitution - Missense
MPRIPENSG00000133030ENST00000341712p.L823Ic.2467C>ASubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.R1162Hc.3485G>ASubstitution - Missense
GBX2ENSG00000168505ENST00000306318p.A283Tc.847G>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000361521p.V265Mc.793G>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377845p.V245Mc.733G>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377842p.V224Mc.670G>ASubstitution - Missense
XM_042698.6p.N570Kc.1710C>GSubstitution - Missense
MAPK11ENSG00000185386ENST00000330651p.M265Ic.795G>ASubstitution - Missense
HEXAENSG00000213614ENST00000268097p.P165Lc.494C>TSubstitution - Missense
CD276ENSG00000103855ENST00000318443p.A306Tc.916G>ASubstitution - Missense
CSKENSG00000103653ENST00000220003p.R318Hc.953G>ASubstitution - Missense
SNAPC1ENSG00000023608ENST00000216294p.A263Tc.787G>ASubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.S327Lc.980C>TSubstitution - Missense
XRN2ENSG00000088930ENST00000377191p.A442Tc.1324G>ASubstitution - Missense
UNC119ENSG00000109103ENST00000335765p.C190Yc.569G>ASubstitution - Missense
TUBENSG00000166402ENST00000305253p.R388Wc.1162C>TSubstitution - Missense
PPIGENSG00000138398ENST00000260970p.R603Lc.1808G>TSubstitution - Missense
ABL2ENSG00000143322ENST00000502732p.A443Tc.1327G>ASubstitution - Missense
ABL2ENSG00000143322ENST00000512653p.A428Tc.1282G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.E840Kc.2518G>ASubstitution - Missense
ENST00000393689p.R377Hc.1130G>ASubstitution - Missense
KIRREL2ENSG00000126259ENST00000360202p.D428Yc.1282G>TSubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.V331Ic.991G>ASubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.R469Kc.1406G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000361802p.C271Yc.812G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.A973Vc.2918C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.A973Vc.2918C>TSubstitution - Missense
PRPF38AENSG00000134748ENST00000257181p.A44Vc.131C>TSubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.T456Ic.1367C>TSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.C1275Yc.3824G>ASubstitution - Missense
ENST00000445854p.A534Tc.1600G>ASubstitution - Missense
CCDC57ENSG00000176155ENST00000389641p.A534Tc.1600G>ASubstitution - Missense
NM_014363.3p.E652Vc.1955A>TSubstitution - Missense
KANSL2ENSG00000139620ENST00000420613p.M196Ic.588G>ASubstitution - Missense
MED30ENSG00000164758ENST00000297347p.Q162Kc.484C>ASubstitution - Missense
MOV10ENSG00000155363ENST00000357443p.S97Lc.290C>TSubstitution - Missense
LRRC42ENSG00000116212ENST00000319223p.R316Cc.946C>TSubstitution - Missense
ACOT13ENSG00000112304ENST00000230048p.A114Vc.341C>TSubstitution - Missense
OSBPENSG00000110048ENST00000263847p.M446Ic.1338G>ASubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.T1457Ic.4370C>TSubstitution - Missense
CPPED1ENSG00000103381ENST00000381774p.T102Mc.305C>TSubstitution - Missense
ZNF134ENSG00000213762ENST00000396161p.G396Rc.1186G>ASubstitution - Missense
SHC1ENSG00000160691ENST00000448116p.A336Vc.1007C>TSubstitution - Missense
SHC1ENSG00000160691ENST00000368453p.A226Vc.677C>TSubstitution - Missense
PLAUENSG00000122861ENST00000372764p.R176Hc.527G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.V385Mc.1153G>ASubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.V1017Mc.3049G>ASubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.V1017Mc.3049G>ASubstitution - Missense
DDX59ENSG00000118197ENST00000331314p.Q596Ec.1786C>GSubstitution - Missense
FBF1ENSG00000188878ENST00000319129p.R1044Qc.3131G>ASubstitution - Missense
YY1AP1ENSG00000163374ENST00000368339p.Q477Qc.1431G>ASubstitution - coding silent
YY1AP1ENSG00000163374ENST00000295566p.Q385Qc.1155G>ASubstitution - coding silent
SOAT1ENSG00000057252ENST00000367619p.M7Ic.21G>ASubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.V276Ic.826G>ASubstitution - Missense
TRIM68ENSG00000167333ENST00000300747p.R218Wc.652C>TSubstitution - Missense
TARBP2ENSG00000139546ENST00000266987p.T179Ic.536C>TSubstitution - Missense
CEP112ENSG00000154240ENST00000535342p.R416Hc.1247G>ASubstitution - Missense
CLCN3ENSG00000109572ENST00000347613p.T514Ic.1541C>TSubstitution - Missense
HELZENSG00000198265ENST00000358691p.L665Fc.1993C>TSubstitution - Missense
EFNB3ENSG00000108947ENST00000226091p.S332Nc.995G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.A892Tc.2674G>ASubstitution - Missense
UBTFENSG00000108312ENST00000302904p.A643Vc.1928C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.P1106Lc.3317C>TSubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.R176Wc.526C>TSubstitution - Missense
SRP68ENSG00000167881ENST00000307877p.Q284Hc.852G>CSubstitution - Missense
AKAP5ENSG00000179841ENST00000394718p.R188Wc.562C>TSubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.V919Ac.2756T>CSubstitution - Missense
SETD8ENSG00000183955ENST00000330479p.K226Tc.677A>CSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.R824Hc.2471G>ASubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.F504Cc.1511T>GSubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.V92Mc.274G>ASubstitution - Missense
EEF1A2ENSG00000101210ENST00000298049p.A369Tc.1105G>ASubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.S553Gc.1657A>GSubstitution - Missense
HELZENSG00000198265ENST00000358691p.S1564Tc.4691G>CSubstitution - Missense
LGALS8ENSG00000116977ENST00000527974p.S340Nc.1019G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000359285p.S420Nc.1259G>ASubstitution - Missense
TTYH3ENSG00000136295ENST00000258796p.M401Ic.1203G>ASubstitution - Missense
ENST00000340753p.A7Tc.19G>ASubstitution - Missense
MTMR4ENSG00000108389ENST00000323456p.S8Nc.23G>ASubstitution - Missense
GTF3C2ENSG00000115207ENST00000264720p.R244Wc.730C>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.A698Tc.2092G>ASubstitution - Missense
STARD3NLENSG00000010270ENST00000396013p.A221Vc.662C>TSubstitution - Missense
SURF6ENSG00000148296ENST00000372022p.A41Tc.121G>ASubstitution - Missense
DIMT1ENSG00000086189ENST00000199320p.R184Hc.551G>ASubstitution - Missense
WDTC1ENSG00000142784ENST00000361771p.A102Tc.304G>ASubstitution - Missense
ERV3-1ENSG00000213462ENST00000394323p.T34Ic.101C>TSubstitution - Missense
CNNM2ENSG00000148842ENST00000369878p.A874Tc.2620G>ASubstitution - Missense
NOC3LENSG00000173145ENST00000371361p.R697Wc.2089C>TSubstitution - Missense
CSDE1ENSG00000009307ENST00000358528p.H262Yc.784C>TSubstitution - Missense
YIF1BENSG00000167645ENST00000337679p.P152Lc.455C>TSubstitution - Missense
PARD6BENSG00000124171ENST00000371610p.V119Ic.355G>ASubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.A1701Pc.5101G>CSubstitution - Missense
ZNF326ENSG00000162664ENST00000340281p.H358Yc.1072C>TSubstitution - Missense
ZMIZ2ENSG00000122515ENST00000309315p.A709Tc.2125G>ASubstitution - Missense
TXNRD3ENSG00000197763ENST00000524230p.W606Lc.1817G>TSubstitution - Missense
TBC1D2ENSG00000095383ENST00000375066p.G237Ec.710G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000398457p.S279Nc.836G>ASubstitution - Missense
CTR9ENSG00000198730ENST00000361367p.A386Tc.1156G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.T359Ic.1076C>TSubstitution - Missense
INPP4AENSG00000040933ENST00000409540p.T359Ic.1076C>TSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.T359Ic.1076C>TSubstitution - Missense
NOL11ENSG00000130935ENST00000253247p.A503Vc.1508C>TSubstitution - Missense
MRM1ENSG00000129282ENST00000250156p.P285Lc.854C>TSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R1431Hc.4292G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R1319Hc.3956G>ASubstitution - Missense
HCN4ENSG00000138622ENST00000261917p.V673Mc.2017G>ASubstitution - Missense
ALDH2ENSG00000111275ENST00000261733p.A310Tc.928G>ASubstitution - Missense
UBXN1ENSG00000162191ENST00000294119p.A79Vc.236C>TSubstitution - Missense
MYO1EENSG00000157483ENST00000288235p.L530Hc.1589T>ASubstitution - Missense
METTL2AENSG00000087995ENST00000311506p.A337Vc.1010C>TSubstitution - Missense
NM_001005372.1p.A201Vc.602C>TSubstitution - Missense
RPL12ENSG00000197958ENST00000361436p.M1Ic.3G>ASubstitution - Missense
EML3ENSG00000149499ENST00000394773p.R223Hc.668G>ASubstitution - Missense
ZHX1ENSG00000165156ENST00000395571p.A15Tc.43G>ASubstitution - Missense
HES1ENSG00000114315ENST00000232424p.T84Ic.251C>TSubstitution - Missense
SLC22A4ENSG00000197208ENST00000200652p.P364Lc.1091C>TSubstitution - Missense
HOOK1ENSG00000134709ENST00000371208p.T154Sc.461C>GSubstitution - Missense
RABGAP1ENSG00000011454ENST00000373647p.A797Vc.2390C>TSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R1094Qc.3281G>ASubstitution - Missense
STRBPENSG00000165209ENST00000447404p.V658Ic.1972G>ASubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.S493Nc.1478G>ASubstitution - Missense
ABCB9ENSG00000150967ENST00000392439p.R309Wc.925C>TSubstitution - Missense
RMND5AENSG00000153561ENST00000283632p.R340Hc.1019G>ASubstitution - Missense
KIAA0247ENSG00000100647ENST00000342745p.K90Ec.268A>GSubstitution - Missense
LYNENSG00000254087ENST00000519728p.V118Mc.352G>ASubstitution - Missense
ASNSENSG00000070669ENST00000394309p.A499Vc.1496C>TSubstitution - Missense
MCL1ENSG00000143384ENST00000369026p.R215Gc.643C>GSubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.C26Yc.77G>ASubstitution - Missense
ENST00000246798p.V1098Lc.3292G>CSubstitution - Missense
TNFRSF13BENSG00000240505ENST00000261652p.Q121Qc.363G>ASubstitution - coding silent
ZFHX3ENSG00000140836ENST00000268489p.A896Tc.2686G>ASubstitution - Missense
TMEM186ENSG00000184857ENST00000333050p.R170Qc.509G>ASubstitution - Missense
DCUN1D3ENSG00000188215ENST00000324344p.V53Ic.157G>ASubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.A908Tc.2722G>ASubstitution - Missense
SELPLGENSG00000110876ENST00000550948p.T139Tc.417G>ASubstitution - coding silent
HECTD4ENSG00000173064ENST00000377560p.G3641Gc.10923C>TSubstitution - coding silent
TMPRSS6ENSG00000187045ENST00000346753p.C489Cc.1467C>TSubstitution - coding silent
HAO1ENSG00000101323ENST00000378789p.R55Qc.164G>ASubstitution - Missense
ZFAND2BENSG00000158552ENST00000289528p.A75Vc.224C>TSubstitution - Missense
OPA3ENSG00000125741ENST00000263275p.R116Cc.346C>TSubstitution - Missense
ENST00000391849p.R347Hc.1040G>ASubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.Q799*c.2395C>TSubstitution - Nonsense
ZNF628ENSG00000197483ENST00000391718p.Q799*c.2395C>TSubstitution - Nonsense
SPTBN4ENSG00000160460ENST00000352632p.T1332Tc.3996G>ASubstitution - coding silent
ISYNA1ENSG00000105655ENST00000338128p.I329Ic.987C>TSubstitution - coding silent
ENST00000300671p.A2836Tc.8506G>ASubstitution - Missense
RAB37ENSG00000172794ENST00000402449p.I58Ic.174C>TSubstitution - coding silent
UFL1ENSG00000014123ENST00000369278p.T531Mc.1592C>TSubstitution - Missense
NM_020340.2p.A1740Vc.5219C>TSubstitution - Missense
RAPGEF2ENSG00000109756ENST00000264431p.A376Tc.1126G>ASubstitution - Missense
MUSTN1ENSG00000272573ENST00000446157p.A4Vc.11C>TSubstitution - Missense
TMEM108ENSG00000144868ENST00000321871p.G189Gc.567C>TSubstitution - coding silent
IRAK1ENSG00000184216ENST00000369980p.P658Lc.1973C>TSubstitution - Missense
CER1ENSG00000147869ENST00000380911p.E174Kc.520G>ASubstitution - Missense
LHX6ENSG00000106852ENST00000394319p.N179Nc.537C>TSubstitution - coding silent
LHX6ENSG00000106852ENST00000340587p.N179Nc.537C>TSubstitution - coding silent
CYC1ENSG00000179091ENST00000318911p.V201Mc.601G>ASubstitution - Missense
EPHB4ENSG00000196411ENST00000358173p.R917Qc.2750G>ASubstitution - Missense
SMOENSG00000128602ENST00000249373p.R482Rc.1446C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.P1440Pc.4320G>ASubstitution - coding silent
NRXN1ENSG00000179915ENST00000406316p.P1370Pc.4110G>ASubstitution - coding silent
ADAM30ENSG00000134249ENST00000369400p.K620*c.1858A>TSubstitution - Nonsense
KRASENSG00000133703ENST00000256078p.Q61Hc.183A>TSubstitution - Missense
KIAA1161ENSG00000164976ENST00000297625p.A288Vc.863C>TSubstitution - Missense
ADAM11ENSG00000073670ENST00000200557p.R140Qc.419G>ASubstitution - Missense
STRCENSG00000242866ENST00000450892p.R1581Qc.4742G>ASubstitution - Missense
KCNJ4ENSG00000168135ENST00000303592p.R15Qc.44G>ASubstitution - Missense
FBF1ENSG00000188878ENST00000319129p.R881Cc.2641C>TSubstitution - Missense
ENST00000316893p.T611Mc.1832C>TSubstitution - Missense
MAU2ENSG00000129933ENST00000392313p.H559Nc.1675C>ASubstitution - Missense
POMT1ENSG00000130714ENST00000372228p.H729Yc.2185C>TSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.S611Lc.1832C>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.C294Yc.881G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000371752p.C1490Yc.4469G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.C1490Yc.4469G>ASubstitution - Missense
ATG16L1ENSG00000085978ENST00000392017p.T143Mc.428C>TSubstitution - Missense
LSRENSG00000105699ENST00000361790p.A234Gc.701C>GSubstitution - Missense
ZNF513ENSG00000163795ENST00000323703p.A268Vc.803C>TSubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.G303Sc.907G>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000296869p.G303Sc.907G>ASubstitution - Missense
NOVENSG00000136999ENST00000259526p.A104Vc.311C>TSubstitution - Missense
LUC7L3ENSG00000108848ENST00000505658p.V201Ic.601G>ASubstitution - Missense
MDM4ENSG00000198625ENST00000367182p.T422Ic.1265C>TSubstitution - Missense
ACPL2ENSG00000155893ENST00000286353p.R336Wc.1006C>TSubstitution - Missense
ETNK1ENSG00000139163ENST00000266517p.R371Cc.1111C>TSubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.S2045Nc.6134G>ASubstitution - Missense
LRRC14ENSG00000160959ENST00000292524p.A202Tc.604G>ASubstitution - Missense
RPL10AENSG00000198755ENST00000322203p.S64Yc.191C>ASubstitution - Missense
RPLP0ENSG00000089157ENST00000392514p.R149Kc.446G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.A2276Vc.6827C>TSubstitution - Missense
WDR34ENSG00000119333ENST00000372715p.G456Rc.1366G>ASubstitution - Missense
MRPL15ENSG00000137547ENST00000260102p.R196Hc.587G>ASubstitution - Missense
PLD5ENSG00000180287ENST00000536534p.T353Kc.1058C>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R273Hc.818G>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.R467*c.1399C>TSubstitution - Nonsense
APCENSG00000134982ENST00000457016p.R232*c.694C>TSubstitution - Nonsense
MSH6ENSG00000116062ENST00000234420p.R911*c.2731C>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.R273Hc.818G>ASubstitution - Missense
NFRKBENSG00000170322ENST00000524794p.V602Ic.1804G>ASubstitution - Missense
GOSR1ENSG00000108587ENST00000225724p.L246Lc.736C>TSubstitution - coding silent
INPP5KENSG00000132376ENST00000421807p.A27Ac.81G>ASubstitution - coding silent
DSTENSG00000151914ENST00000370765p.R2518*c.7552C>TSubstitution - Nonsense
CSNK1A1ENSG00000113712ENST00000515768p.A285Vc.854C>TSubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.V718Mc.2152G>ASubstitution - Missense
NFATC2ENSG00000101096ENST00000396009p.A59Tc.175G>ASubstitution - Missense
ADSLENSG00000239900ENST00000216194p.A291Vc.872C>TSubstitution - Missense
ADSLENSG00000239900ENST00000216194p.A291Vc.872C>TSubstitution - Missense
ESM1ENSG00000164283ENST00000381405p.T150Mc.449C>TSubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.S641Sc.1923C>TSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000286195p.P576Pc.1728G>ASubstitution - coding silent
CDH16ENSG00000166589ENST00000299752p.A446Tc.1336G>ASubstitution - Missense
SUPT16HENSG00000092201ENST00000216297p.R847Wc.2539C>TSubstitution - Missense
FZD3ENSG00000104290ENST00000537916p.R628Wc.1882C>TSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.R1275Qc.3824G>ASubstitution - Missense
ZNF146ENSG00000167635ENST00000443387p.E73Kc.217G>ASubstitution - Missense
ASPHD1ENSG00000174939ENST00000308748p.R97Hc.290G>ASubstitution - Missense
CBLENSG00000110395ENST00000264033p.P433Pc.1299G>ASubstitution - coding silent
CCDC40ENSG00000141519ENST00000397545p.A552Vc.1655C>TSubstitution - Missense
YIF1BENSG00000167645ENST00000392124p.P124Lc.371C>TSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.R1228Wc.3682C>TSubstitution - Missense
IVDENSG00000128928ENST00000487418p.H111Yc.331C>TSubstitution - Missense
ENST00000400001p.V424Vc.1272C>TSubstitution - coding silent
TTBK1ENSG00000146216ENST00000259750p.A79Vc.236C>TSubstitution - Missense
NT5DC2ENSG00000168268ENST00000307076p.R280Wc.838C>TSubstitution - Missense
CYTH3ENSG00000008256ENST00000350796p.P251Pc.753G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.P2678Lc.8033C>TSubstitution - Missense
ENST00000326184p.R860Hc.2579G>ASubstitution - Missense
RIMKLBENSG00000166532ENST00000357529p.T160Mc.479C>TSubstitution - Missense
ANKFY1ENSG00000185722ENST00000574367p.R266Qc.797G>ASubstitution - Missense
P2RX7ENSG00000089041ENST00000546057p.I355Ic.1065C>TSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.R3645Wc.10933C>TSubstitution - Missense
ENST00000280576p.R2237Wc.6709C>TSubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.R205Kc.614G>ASubstitution - Missense
EFCAB12ENSG00000172771ENST00000505956p.P408Pc.1224G>ASubstitution - coding silent
ENST00000335106p.S1242Sc.3726G>ASubstitution - coding silent
HMSDENSG00000221887ENST00000408945p.F122Fc.366C>TSubstitution - coding silent
PIAS4ENSG00000105229ENST00000262971p.P77Pc.231G>ASubstitution - coding silent
NOP16ENSG00000048162ENST00000389158p.K131Kc.393G>ASubstitution - coding silent
ENST00000341213p.K106Kc.318G>ASubstitution - coding silent
RALGAPBENSG00000170471ENST00000397040p.R384Qc.1151G>ASubstitution - Missense
STHENSG00000256762ENST00000537309p.C27Cc.81C>TSubstitution - coding silent
KPRPENSG00000203786ENST00000368773p.P212Sc.634C>TSubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.L1060Lc.3180G>ASubstitution - coding silent
SIGLEC10ENSG00000142512ENST00000339313p.G157Ec.470G>ASubstitution - Missense
PPP6R3ENSG00000110075ENST00000393801p.R42Hc.125G>ASubstitution - Missense
PPP6R3ENSG00000110075ENST00000265636p.R42Hc.125G>ASubstitution - Missense
TMX2ENSG00000213593ENST00000278422p.R81Hc.242G>ASubstitution - Missense
IGSF9BENSG00000080854ENST00000321016p.M146Ic.438G>ASubstitution - Missense
KLHL21ENSG00000162413ENST00000377658p.R571Cc.1711C>TSubstitution - Missense
MED18ENSG00000130772ENST00000373842p.R150Hc.449G>ASubstitution - Missense
ZC3H11AENSG00000058673ENST00000367210p.N652Nc.1956C>TSubstitution - coding silent
LRRC71ENSG00000160838ENST00000337428p.G339Rc.1015G>ASubstitution - Missense
UNC13DENSG00000092929ENST00000207549p.S297Nc.890G>ASubstitution - Missense


COSMIC

4 mutations reported
0 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
KRASENSG00000133703ENST00000311936p.Q61Hc.183A>TSubstitution - Missense12068308
PTENENSG00000171862ENST00000371953p.R233*c.697C>TSubstitution - Nonsense9598803
KRASENSG00000133703ENST00000311936p.Q61Hc.183A>TSubstitution - Missense1679529
PTENENSG00000171862ENST00000371953p.R233*c.697C>TSubstitution - Nonsense9794233