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NB17 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1044 mutations reported
351 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TTNENSG00000155657ENST00000342992p.T21817Tc.65451T>CSubstitution - coding silent
GREB1LENSG00000141449ENST00000424526p.S1196Ic.3587G>TSubstitution - Missense
BACH1ENSG00000156273ENST00000399921p.Q151Kc.451C>ASubstitution - Missense
CD79BENSG00000007312ENST00000006750p.Q228Pc.683A>CSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.H470Hc.1410C>TSubstitution - coding silent
SCINENSG00000006747ENST00000297029p.A190Ec.569C>ASubstitution - Missense
CERS4ENSG00000090661ENST00000251363p.?c.291+8C>TUnknown
ALKBH7ENSG00000125652ENST00000245812p.L137Vc.409C>GSubstitution - Missense
SLC38A11ENSG00000169507ENST00000409149p.?c.927+9G>TUnknown
NSD1ENSG00000165671ENST00000439151p.R1072Rc.3214C>ASubstitution - coding silent
PKHD1ENSG00000170927ENST00000340994p.V2971Lc.8911G>TSubstitution - Missense
C19orf44ENSG00000105072ENST00000221671p.P564Pc.1692G>ASubstitution - coding silent
URGCPENSG00000106608ENST00000453200p.W290Lc.869G>TSubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.R128Ic.383G>TSubstitution - Missense
SLFN12LENSG00000205045ENST00000361112p.?c.101+6C>AUnknown
LIN37ENSG00000267796ENST00000301159p.?c.192-5C>TUnknown
GHDCENSG00000167925ENST00000414034p.G422Vc.1265G>TSubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.P457Ac.1369C>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.K2772Mc.8315A>TSubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.?c.3648+3_3648+4delatUnknown
ENST00000570743p.Y129*c.387C>ASubstitution - Nonsense
SENP7ENSG00000138468ENST00000394095p.N472Dc.1414A>GSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.A1744Sc.5230G>TSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.A175Sc.523G>TSubstitution - Missense
TKTENSG00000163931ENST00000462138p.T558Tc.1674C>TSubstitution - coding silent
XYLT2ENSG00000015532ENST00000017003p.E708*c.2122G>TSubstitution - Nonsense
ABCC1ENSG00000103222ENST00000399410p.W945*c.2835G>ASubstitution - Nonsense
DEPDC7ENSG00000121690ENST00000241051p.L493Fc.1479G>TSubstitution - Missense
KDM2BENSG00000089094ENST00000377069p.T469Pc.1405A>CSubstitution - Missense
SEPT9ENSG00000184640ENST00000423034p.S109Yc.326C>ASubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.S827*c.2480C>ASubstitution - Nonsense
ANKS1BENSG00000185046ENST00000332712p.K422Nc.1266G>TSubstitution - Missense
VDAC2ENSG00000165637ENST00000313132p.V65Lc.193G>CSubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.G1076Rc.3226G>ASubstitution - Missense
AKNAENSG00000106948ENST00000307564p.E914Kc.2740G>ASubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.R1388Kc.4163G>ASubstitution - Missense
SPANXN2ENSG00000203924ENST00000370498p.R33Mc.98G>TSubstitution - Missense
DDX19BENSG00000157349ENST00000288071p.A147Ac.441C>GSubstitution - coding silent
KIAA1009ENSG00000135315ENST00000403245p.V731Lc.2191G>TSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.G708Cc.2122G>TSubstitution - Missense
PARS2ENSG00000162396ENST00000371279p.G419Gc.1257A>GSubstitution - coding silent
CHI3L1ENSG00000133048ENST00000255409p.A276Vc.827C>TSubstitution - Missense
TBC1D15ENSG00000121749ENST00000550746p.G512Gc.1536A>GSubstitution - coding silent
NM_002094.1p.P286Tc.856C>ASubstitution - Missense
VEZTENSG00000028203ENST00000261219p.E639Ec.1917A>GSubstitution - coding silent
KRT72ENSG00000170486ENST00000293745p.A131Sc.391G>TSubstitution - Missense
CELA3AENSG00000142789ENST00000290122p.I260Vc.778A>GSubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.P989Tc.2965C>ASubstitution - Missense
MLNRENSG00000102539ENST00000218721p.L341Lc.1021C>TSubstitution - coding silent
PLK1ENSG00000166851ENST00000300093p.P250Hc.749C>ASubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.S296Ic.887G>TSubstitution - Missense
ENST00000289484p.V164Ec.491T>ASubstitution - Missense
BYSLENSG00000112578ENST00000230340p.Q176Hc.528G>TSubstitution - Missense
RELNENSG00000189056ENST00000343529p.R1727Rc.5181G>TSubstitution - coding silent
RNF25ENSG00000163481ENST00000295704p.E449Qc.1345G>CSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.T88Kc.263C>ASubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.K624Nc.1872G>TSubstitution - Missense
TAF1BENSG00000115750ENST00000263663p.E89*c.265G>TSubstitution - Nonsense
CTAGE1ENSG00000212710ENST00000391403p.P477Tc.1429C>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.A1409Tc.4225G>ASubstitution - Missense
CPSF3ENSG00000119203ENST00000238112p.S659Nc.1976G>ASubstitution - Missense
STMN4ENSG00000015592ENST00000350889p.R193Rc.577C>ASubstitution - coding silent
BMP1ENSG00000168487ENST00000306349p.R524Cc.1570C>TSubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.?c.1543-10C>TUnknown
SLC25A5ENSG00000005022ENST00000317881p.G115Gc.345G>ASubstitution - coding silent
CLCA1ENSG00000016490ENST00000234701p.Q497Hc.1491G>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000361477p.?c.938+1G>TUnknown
DNAH17ENSG00000187775ENST00000389840p.G1836Gc.5508G>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.S3514*c.10541C>ASubstitution - Nonsense
CATSPERGENSG00000099338ENST00000215069p.?c.1346-3C>AUnknown
STK32AENSG00000169302ENST00000397936p.R27Pc.80G>CSubstitution - Missense
NTNG2ENSG00000196358ENST00000372179p.G391Ec.1172G>ASubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.E198*c.592G>TSubstitution - Nonsense
KLHL42ENSG00000087448ENST00000381271p.I306Ic.918C>TSubstitution - coding silent
PI4KBENSG00000143393ENST00000368875p.R429Qc.1286G>ASubstitution - Missense
CCDC147ENSG00000120051ENST00000369704p.V744Gc.2231T>GSubstitution - Missense
KCNE3ENSG00000175538ENST00000310128p.L62Lc.186C>ASubstitution - coding silent
TAF5LENSG00000135801ENST00000366675p.A237Dc.710C>ASubstitution - Missense
OR6P1ENSG00000186440ENST00000334632p.L187Lc.561C>ASubstitution - coding silent
SH2B2ENSG00000160999ENST00000536178p.W522Lc.1565G>TSubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.S612Lc.1835C>TSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.Q452Hc.1356G>TSubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.I263Ic.789C>TSubstitution - coding silent
SHANK3ENSG00000251322ENST00000262795p.R1239Mc.3716G>TSubstitution - Missense
INSRRENSG00000027644ENST00000368195p.G930Gc.2790G>TSubstitution - coding silent
SUOXENSG00000139531ENST00000394109p.G441Vc.1322G>TSubstitution - Missense
ENST00000328843_v70p.E3868*c.11602G>TSubstitution - Nonsense
MTHFD1LENSG00000120254ENST00000420192p.R85*c.253C>TSubstitution - Nonsense
EIF6ENSG00000242372ENST00000374443p.G165Ac.494G>CSubstitution - Missense
DCBLD2ENSG00000057019ENST00000326857p.L581fs*6c.1741_1742delTTDeletion - Frameshift
LRRCC1ENSG00000133739ENST00000414626p.L140Fc.420G>TSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.?c.5806+9G>TUnknown
EME1ENSG00000154920ENST00000338165p.G265Vc.794G>TSubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.G1088Rc.3262G>ASubstitution - Missense
GPR153ENSG00000158292ENST00000377893p.S228Sc.684C>GSubstitution - coding silent
DPP8ENSG00000074603ENST00000300141p.P393Hc.1178C>ASubstitution - Missense
TDP1ENSG00000042088ENST00000393454p.D551Ec.1653C>GSubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.D439Ec.1317C>ASubstitution - Missense
ENSG00000206044ENST00000382678p.P248Tc.742C>ASubstitution - Missense
GPRC5AENSG00000013588ENST00000014914p.H341Hc.1023C>TSubstitution - coding silent
NSD1ENSG00000165671ENST00000439151p.R1072Rc.3214C>ASubstitution - coding silent
CPAMD8ENSG00000160111ENST00000291440p.L511fs*64c.1530_1531insAInsertion - Frameshift
CD14ENSG00000170458ENST00000302014p.G370Rc.1108G>CSubstitution - Missense
ACTL7AENSG00000187003ENST00000333999p.A184Dc.551C>ASubstitution - Missense
GRAMD1CENSG00000178075ENST00000358160p.P46Qc.137C>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.V1998Ic.5992G>ASubstitution - Missense
POM121CENSG00000135213ENST00000453279p.?c.227+1G>CUnknown
TREML4ENSG00000188056ENST00000341495p.L150Mc.448C>ASubstitution - Missense
ZNF117ENSG00000152926ENST00000282869p.E280Dc.840A>TSubstitution - Missense
MDH1ENSG00000014641ENST00000233114p.T225Mc.674C>TSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.C163*c.489C>ASubstitution - Nonsense
SUMO4ENSG00000177688ENST00000326669p.Q75Pc.224A>CSubstitution - Missense
MTHFD1LENSG00000120254ENST00000367321p.R854*c.2560C>TSubstitution - Nonsense
C2orf81ENSG00000159239ENST00000290390p.G411Vc.1232G>TSubstitution - Missense
SULT1C3ENSG00000196228ENST00000329106p.A2Ac.6G>ASubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.F3033Lc.9099C>ASubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.E562Qc.1684G>CSubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.S296Ic.887G>TSubstitution - Missense
MSRB3ENSG00000174099ENST00000355192p.V43Vc.129G>TSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000407578p.Q3487Qc.10461A>GSubstitution - coding silent
TNFRSF11BENSG00000164761ENST00000297350p.A234Tc.700G>ASubstitution - Missense
GAP43ENSG00000172020ENST00000305124p.D169Yc.505G>TSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396257p.E303*c.907G>TSubstitution - Nonsense
IDUAENSG00000127415ENST00000247933p.P650Pc.1950G>ASubstitution - coding silent
MYOM3ENSG00000142661ENST00000338909p.?c.650+1G>AUnknown
DOPEY2ENSG00000142197ENST00000399151p.L1975Mc.5923C>ASubstitution - Missense
PPLENSG00000118898ENST00000345988p.V161Lc.481G>TSubstitution - Missense
MEGF11ENSG00000157890ENST00000409699p.Q345Qc.1035G>ASubstitution - coding silent
KCNC2ENSG00000166006ENST00000341669p.P629Pc.1887C>TSubstitution - coding silent
KMT2AENSG00000118058ENST00000534358p.Q3683Hc.11049G>TSubstitution - Missense
NADKENSG00000008130ENST00000344463p.E374Kc.1120G>ASubstitution - Missense
BTBD16ENSG00000138152ENST00000260723p.A161Sc.481G>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.R910Kc.2729G>ASubstitution - Missense
DSCC1ENSG00000136982ENST00000313655p.S220Yc.659C>ASubstitution - Missense
OGFRL1ENSG00000119900ENST00000370435p.G322Gc.966A>TSubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.?c.3633+3_3633+4delatUnknown
ASCC3ENSG00000112249ENST00000369162p.D1918Yc.5752G>TSubstitution - Missense
IRF4ENSG00000137265ENST00000380956p.?c.638-4G>TUnknown
PLXNA1ENSG00000114554ENST00000393409p.L267Lc.801G>TSubstitution - coding silent
MYH8ENSG00000133020ENST00000403437p.L1433Ic.4297C>ASubstitution - Missense
PPP6R1ENSG00000105063ENST00000412770p.P724Lc.2171C>TSubstitution - Missense
NADKENSG00000008130ENST00000342348p.E197Kc.589G>ASubstitution - Missense
ALDH9A1ENSG00000143149ENST00000354775p.?c.592+4A>TUnknown
F5ENSG00000198734ENST00000367797p.E1297*c.3889G>TSubstitution - Nonsense
CCSER2ENSG00000107771ENST00000372088p.R426Ic.1277G>TSubstitution - Missense
ZNF25ENSG00000175395ENST00000302609p.E423Dc.1269G>TSubstitution - Missense
TNFRSF11BENSG00000164761ENST00000297350p.A234Tc.700G>ASubstitution - Missense
ENST00000354247p.L251Vc.751C>GSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.L364Vc.1090C>GSubstitution - Missense
FLGENSG00000143631ENST00000368799p.H2477Nc.7429C>ASubstitution - Missense
SCNN1AENSG00000111319ENST00000228916p.S344Sc.1032C>ASubstitution - coding silent
ALDH18A1ENSG00000059573ENST00000371224p.H689Nc.2065C>ASubstitution - Missense
KCNJ4ENSG00000168135ENST00000303592p.N29Nc.87C>TSubstitution - coding silent
PRDM13ENSG00000112238ENST00000369214p.L24Vc.70C>GSubstitution - Missense
XM_371474.2p.P694Pc.2082C>GSubstitution - coding silent
ENST00000358511_v70p.P382Hc.1145C>ASubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.S893Gc.2677A>GSubstitution - Missense
CD36ENSG00000135218ENST00000394788p.A141Ac.423T>ASubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000251582p.R368Lc.1103G>TSubstitution - Missense
NM_004389.1p.D95Vc.284A>TSubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.?c.345-1G>TUnknown
SU_NEK10p.G517Cc.1549G>TSubstitution - Missense
EFR3BENSG00000084710ENST00000264719p.R508Pc.1523G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T15445Tc.46335T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.T15512Tc.46536T>CSubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.P477Tc.1429C>ASubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.T1247Tc.3741A>GSubstitution - coding silent
IGSF5ENSG00000183067ENST00000380588p.K328Rc.983A>GSubstitution - Missense
PSMA8ENSG00000154611ENST00000308268p.N130Sc.389A>GSubstitution - Missense
BMP1ENSG00000168487ENST00000306385p.R524Cc.1570C>TSubstitution - Missense
GAB2ENSG00000033327ENST00000361507p.T225Ic.674C>TSubstitution - Missense
ANO9ENSG00000185101ENST00000332826p.P764Qc.2291C>ASubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.S827*c.2480C>ASubstitution - Nonsense
VCAM1ENSG00000162692ENST00000294728p.S172Tc.514T>ASubstitution - Missense
RCBTB1ENSG00000136144ENST00000378302p.H461Hc.1383C>TSubstitution - coding silent
CUX2ENSG00000111249ENST00000261726p.K136Rc.407A>GSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396259p.E303*c.907G>TSubstitution - Nonsense
SLC9B2ENSG00000164038ENST00000339611p.T22Mc.65C>TSubstitution - Missense
RGL2ENSG00000237441ENST00000497454p.?c.1604+5G>AUnknown
C6orf10ENSG00000204296ENST00000447241p.?c.638-3C>TUnknown
ANKRD24ENSG00000089847ENST00000262970p.?c.614-10C>TUnknown
SERTAD3ENSG00000167565ENST00000392028p.Q122Qc.366G>ASubstitution - coding silent
PNPLA8ENSG00000135241ENST00000257694p.R662Hc.1985G>ASubstitution - Missense
MYBPC2ENSG00000086967ENST00000357701p.K1093Kc.3279G>ASubstitution - coding silent
LRFN5ENSG00000165379ENST00000298119p.D456Ec.1368T>ASubstitution - Missense
UNC45AENSG00000140553ENST00000418476p.T860Tc.2580C>ASubstitution - coding silent
ENST00000395293p.?c.177+3G>TUnknown
RRAGCENSG00000116954ENST00000373001p.I318Ic.954C>ASubstitution - coding silent
CCDC88BENSG00000168071ENST00000356786p.L1154Lc.3462G>TSubstitution - coding silent
TET1ENSG00000138336ENST00000373644p.A123Dc.368C>ASubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.L973Fc.2919G>TSubstitution - Missense
PIGCENSG00000135845ENST00000344529p.S134fs*14c.397_398insTInsertion - Frameshift
SORCS1ENSG00000108018ENST00000263054p.E996Ec.2988G>ASubstitution - coding silent
SLC4A10ENSG00000144290ENST00000415876p.?c.1528-3C>TUnknown
PKD1L1ENSG00000158683ENST00000289672p.G2431Cc.7291G>TSubstitution - Missense
CATSPERGENSG00000099338ENST00000312265p.?c.287-3C>AUnknown
DSCC1ENSG00000136982ENST00000313655p.S220Yc.659C>ASubstitution - Missense
EYSENSG00000188107ENST00000342421p.C385Fc.1154G>TSubstitution - Missense
PRDM13ENSG00000112238ENST00000369215p.L24Vc.70C>GSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.P382Hc.1145C>ASubstitution - Missense
FAM109BENSG00000177096ENST00000321753p.G105Rc.313G>ASubstitution - Missense
CD36ENSG00000135218ENST00000435819p.A141Ac.423T>ASubstitution - coding silent
HGFENSG00000019991ENST00000222390p.?c.747-8G>AUnknown
FBXO30ENSG00000118496ENST00000237281p.R205Kc.614G>ASubstitution - Missense
CCDC22ENSG00000101997ENST00000376227p.R220Pc.659G>CSubstitution - Missense
ENST00000405167p.V3123Ic.9367G>ASubstitution - Missense
FAM133BENSG00000234545ENST00000445716p.R131Qc.392G>ASubstitution - Missense
ADCY10ENSG00000143199ENST00000367851p.?c.3593+2T>CUnknown
LGALS12ENSG00000133317ENST00000394618p.Q315Kc.943C>ASubstitution - Missense
ENST00000398860p.R3315Cc.9943C>TSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.R1496Qc.4487G>ASubstitution - Missense
OR6M1ENSG00000196099ENST00000309154p.E300Gc.899A>GSubstitution - Missense
SH2B2ENSG00000160999ENST00000306803p.W482Lc.1445G>TSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.C163*c.489C>ASubstitution - Nonsense
GIGYF2ENSG00000204120ENST00000452341p.P8Qc.23C>ASubstitution - Missense
USP40ENSG00000085982ENST00000450966p.E775Dc.2325G>TSubstitution - Missense
CROTENSG00000005469ENST00000331536p.H506Nc.1516C>ASubstitution - Missense
DPF2ENSG00000133884ENST00000528416p.K285Nc.855G>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.G136Gc.408G>TSubstitution - coding silent
IFIT2ENSG00000119922ENST00000371826p.P169Qc.506C>ASubstitution - Missense
CNTFRENSG00000122756ENST00000378980p.V295Vc.885A>CSubstitution - coding silent
MAST4ENSG00000069020ENST00000261569p.S2268Fc.6803C>TSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.Q307Kc.919C>ASubstitution - Missense
SDHAENSG00000073578ENST00000264932p.?c.1432_1432+1delGgUnknown
EDC4ENSG00000038358ENST00000358933p.S729Yc.2186C>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.L3032Pc.9095T>CSubstitution - Missense
NM_018288.2p.?c.280-5T>CUnknown
TRPM3ENSG00000083067ENST00000377105p.L1482Mc.4444C>ASubstitution - Missense
TAS2R16ENSG00000128519ENST00000249284p.V183Fc.547G>TSubstitution - Missense
TLE6ENSG00000104953ENST00000246112p.A168Sc.502G>TSubstitution - Missense
ENST00000331986p.L4766Ic.14296C>ASubstitution - Missense
ANKARENSG00000151687ENST00000313581p.R801Ic.2402G>TSubstitution - Missense
CCDC92ENSG00000119242ENST00000238156p.P241Pc.723C>TSubstitution - coding silent
ABCC1ENSG00000103222ENST00000399408p.W955*c.2865G>ASubstitution - Nonsense
STAMBPL1ENSG00000138134ENST00000371927p.S285Yc.854C>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.K991delKc.2967_2969delGAADeletion - In frame
PBX3ENSG00000167081ENST00000373489p.H401Hc.1203T>CSubstitution - coding silent
TOP3BENSG00000100038ENST00000357179p.E91*c.271G>TSubstitution - Nonsense
FAM115CENSG00000170379ENST00000409703p.V680Ac.2039T>CSubstitution - Missense
SKILENSG00000136603ENST00000259119p.R536Sc.1608A>TSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.V1104Vc.3312G>TSubstitution - coding silent
SLC35G5ENSG00000177710ENST00000382435p.R101Rc.301C>ASubstitution - coding silent
SETD2ENSG00000181555ENST00000409792p.W2395Lc.7184G>TSubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.L553Lc.1657C>TSubstitution - coding silent
GPR37ENSG00000170775ENST00000303921p.I423Ic.1269C>TSubstitution - coding silent
FYBENSG00000082074ENST00000512982p.G383Gc.1149C>ASubstitution - coding silent
MTHFD1ENSG00000100714ENST00000555709p.Q26Lc.77A>TSubstitution - Missense
TMEM106CENSG00000134291ENST00000552561p.S13delSc.32_34delCCTDeletion - In frame
PGA5ENSG00000256713ENST00000312403p.I275Tc.824T>CSubstitution - Missense
OXGR1ENSG00000165621ENST00000298440p.A164Sc.490G>TSubstitution - Missense
TNRENSG00000116147ENST00000367674p.R937Qc.2810G>ASubstitution - Missense
GFOD2ENSG00000141098ENST00000268797p.S138Lc.413C>TSubstitution - Missense
RIOK1ENSG00000124784ENST00000379834p.?c.574-9T>AUnknown
ENST00000344519_v68p.H279Dc.835C>GSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.?c.3632-10C>TUnknown
NM_004142.1p.A117Dc.350C>ASubstitution - Missense
FIS1ENSG00000214253ENST00000223136p.D115Ec.345C>GSubstitution - Missense
PSD4ENSG00000125637ENST00000245796p.D232Yc.694G>TSubstitution - Missense
CAMK4ENSG00000152495ENST00000512453p.P177Lc.530C>TSubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.?c.7130-10T>CUnknown
OSBPL6ENSG00000079156ENST00000392505p.V714Mc.2140G>ASubstitution - Missense
KRTAP19-8ENSG00000206102ENST00000382822p.G12Gc.36C>ASubstitution - coding silent
ZNF44ENSG00000197857ENST00000355684p.S90Rc.270T>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.L1623Mc.4867C>ASubstitution - Missense
MBOAT4ENSG00000177669ENST00000320542p.S151Nc.452G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.R2292Ic.6875G>TSubstitution - Missense
NM_015057.1p.K3449Kc.10347A>GSubstitution - coding silent
ENSG00000180574ENST00000538173p.G334Gc.1002C>TSubstitution - coding silent
IDUAENSG00000127415ENST00000453894p.P672Pc.2016G>ASubstitution - coding silent
ANKRD24ENSG00000089847ENST00000318934p.?c.344-10C>TUnknown
ENST00000377643p.A460Ac.1380C>GSubstitution - coding silent
AKAP7ENSG00000118507ENST00000474850p.?c.49+7G>TUnknown
SEPT9ENSG00000184640ENST00000329047p.S98Yc.293C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L9133Ic.27397C>ASubstitution - Missense
ENST00000331986p.E1695Dc.5085G>CSubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.V301Vc.903C>ASubstitution - coding silent
TCF20ENSG00000100207ENST00000359486p.E1117Ec.3351G>ASubstitution - coding silent
GPR17ENSG00000144230ENST00000393018p.L81Mc.241C>ASubstitution - Missense
SULT1C3ENSG00000196228ENST00000376700p.A2Ac.6G>ASubstitution - coding silent
HAO1ENSG00000101323ENST00000378789p.V71Vc.213C>ASubstitution - coding silent
SEC23IPENSG00000107651ENST00000369075p.?c.2313+1G>TUnknown
MSRB3ENSG00000174099ENST00000308259p.V36Vc.108G>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.C441Sc.1322G>CSubstitution - Missense
MAP3K12ENSG00000139625ENST00000267079p.C346Cc.1038C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000403666p.S2273Fc.6818C>TSubstitution - Missense
DNAH17-AS1ENSG00000268470ENST00000598378p.P137Tc.409C>ASubstitution - Missense
CCDC22ENSG00000101997ENST00000376227p.R220Pc.659G>CSubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.G517Cc.1549G>TSubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.S514Ic.1541G>TSubstitution - Missense
KBTBD8ENSG00000163376ENST00000417314p.A237Ac.711T>GSubstitution - coding silent
DOK2ENSG00000147443ENST00000276420p.P321Hc.962C>ASubstitution - Missense
NM_002200.3p.Q338Qc.1014G>ASubstitution - coding silent
LRRK1ENSG00000154237ENST00000388948p.D442Ec.1326C>ASubstitution - Missense
ENST00000313929p.D280Yc.838G>TSubstitution - Missense
PLA2G4AENSG00000116711ENST00000367466p.E710Kc.2128G>ASubstitution - Missense
PPP6CENSG00000119414ENST00000451402p.H263Nc.787C>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.P278Qc.833C>ASubstitution - Missense
WFS1ENSG00000109501ENST00000226760p.?c.632-1G>TUnknown
LARP1ENSG00000155506ENST00000336314p.A383Ac.1149C>GSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.S3514*c.10541C>ASubstitution - Nonsense
SMG8ENSG00000167447ENST00000300917p.R411Rc.1233G>CSubstitution - coding silent
ADD1ENSG00000087274ENST00000264758p.K80Nc.240G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.S968Sc.2904G>ASubstitution - coding silent
MARVELD2ENSG00000152939ENST00000325631p.S286Yc.857C>ASubstitution - Missense
CLASRPENSG00000104859ENST00000221455p.L96fs*17c.284_285insCInsertion - Frameshift
MUC17ENSG00000169876ENST00000306151p.G45Wc.133G>TSubstitution - Missense
VPS54ENSG00000143952ENST00000272322p.I573Vc.1717A>GSubstitution - Missense
FYBENSG00000082074ENST00000351578p.G383Gc.1149C>ASubstitution - coding silent
NM_016155.3p.?c.1462+1G>AUnknown
NM_005933.1p.Q3680Hc.11040G>TSubstitution - Missense
TESCENSG00000088992ENST00000392545p.P150Pc.450C>ASubstitution - coding silent
NADKENSG00000008130ENST00000341991p.E229Kc.685G>ASubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.H866Qc.2598C>GSubstitution - Missense
SERGEFENSG00000129158ENST00000265965p.I422Ic.1266C>ASubstitution - coding silent
CNNM2ENSG00000148842ENST00000369878p.A851Dc.2552C>ASubstitution - Missense
PGM2L1ENSG00000165434ENST00000298198p.I415Ic.1245T>CSubstitution - coding silent
PTPRQENSG00000139304ENST00000266688p.D2124Dc.6372T>CSubstitution - coding silent
RHBGENSG00000132677ENST00000400992p.G377Cc.1129G>TSubstitution - Missense
TRAFD1ENSG00000135148ENST00000412615p.?c.643+5G>AUnknown
CFHR4ENSG00000134365ENST00000251424p.A309Vc.926C>TSubstitution - Missense
HLA-DOAENSG00000204252ENST00000450833p.E43Vc.128A>TSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.P1539Tc.4615C>ASubstitution - Missense
PLEKHA8ENSG00000106086ENST00000258679p.E303*c.907G>TSubstitution - Nonsense
NAT9ENSG00000109065ENST00000357814p.?c.490-9C>AUnknown
NISCHENSG00000010322ENST00000345716p.A127Gc.380C>GSubstitution - Missense
GCENSG00000145321ENST00000273951p.V326Vc.978A>TSubstitution - coding silent
MAN2B1ENSG00000104774ENST00000221363p.L633Mc.1897C>ASubstitution - Missense
VWDEENSG00000146530ENST00000275358p.E1582Gc.4745A>GSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.E841Gc.2522A>GSubstitution - Missense
EIF6ENSG00000242372ENST00000374436p.G184Ac.551G>CSubstitution - Missense
ZNF560ENSG00000198028ENST00000301480p.H450Nc.1348C>ASubstitution - Missense
CCNFENSG00000162063ENST00000397066p.H735Nc.2203C>ASubstitution - Missense
KCNN4ENSG00000104783ENST00000262888p.L289Rc.866T>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
PCDHB15ENSG00000113248ENST00000231173p.Y282Yc.846T>CSubstitution - coding silent
PCDHB8ENSG00000120322ENST00000239444p.N568Nc.1704T>CSubstitution - coding silent
HBS1LENSG00000112339ENST00000367837p.G449Dc.1346G>ASubstitution - Missense
CATSPERGENSG00000099338ENST00000409235p.I737Vc.2209A>GSubstitution - Missense
ZFP42ENSG00000179059ENST00000326866p.P278Sc.832C>TSubstitution - Missense
MCM9ENSG00000111877ENST00000316316p.Q466Hc.1398G>CSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.E3868*c.11602G>TSubstitution - Nonsense
MAPK10ENSG00000109339ENST00000449047p.T163Tc.489C>GSubstitution - coding silent
HIST1H1AENSG00000124610ENST00000244573p.S92Rc.274A>CSubstitution - Missense
ENST00000278934p.A546Ac.1638C>TSubstitution - coding silent
ENST00000343162p.Q8Qc.24G>ASubstitution - coding silent
GAL3ST1ENSG00000128242ENST00000338911p.K6Nc.18G>TSubstitution - Missense
ZNF638ENSG00000075292ENST00000377802p.V238Vc.714C>ASubstitution - coding silent
ABHD12ENSG00000100997ENST00000450393p.E89*c.265G>TSubstitution - Nonsense
PLA2G4CENSG00000105499ENST00000599111p.S387Ic.1160G>TSubstitution - Missense
MEGF11ENSG00000157890ENST00000360698p.Q345Qc.1035G>ASubstitution - coding silent
MYOM2ENSG00000036448ENST00000262113p.?c.794-8_794-7ins40Unknown
CPA2ENSG00000158516ENST00000222481p.A138Dc.413C>ASubstitution - Missense
ENST00000329047_v70p.S98Yc.293C>ASubstitution - Missense
ASNSD1ENSG00000138381ENST00000260952p.E172*c.514G>TSubstitution - Nonsense
INO80DENSG00000114933ENST00000403263p.L907Lc.2721C>ASubstitution - coding silent
ZNF385BENSG00000144331ENST00000410066p.?c.671-5C>AUnknown
JAG1ENSG00000101384ENST00000254958p.?c.2344+5G>AUnknown
RICTORENSG00000164327ENST00000357387p.V342Vc.1026G>TSubstitution - coding silent
HIF1AENSG00000100644ENST00000337138p.D622Ec.1866T>GSubstitution - Missense
LRFN5ENSG00000165379ENST00000298119p.A659Tc.1975G>ASubstitution - Missense
PRAMEF4ENSG00000243073ENST00000235349p.W6*c.17G>ASubstitution - Nonsense
LRIF1ENSG00000121931ENST00000369763p.P733Sc.2197C>TSubstitution - Missense
RCSD1ENSG00000198771ENST00000367854p.S15Lc.44C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P4674Tc.14020C>ASubstitution - Missense
SRBD1ENSG00000068784ENST00000263736p.A313Ac.939T>CSubstitution - coding silent
CEP120ENSG00000168944ENST00000306467p.L751Lc.2253G>TSubstitution - coding silent
ENST00000426736p.C160*c.480C>ASubstitution - Nonsense
SCN11AENSG00000168356ENST00000302328p.S813Sc.2439C>ASubstitution - coding silent
WDR48ENSG00000114742ENST00000302313p.W195fs*13c.580_581insTInsertion - Frameshift
IQSEC2ENSG00000124313ENST00000396435p.P1460Pc.4380G>ASubstitution - coding silent
KIF19ENSG00000196169ENST00000389916p.C994Rc.2980T>CSubstitution - Missense
TXNRD2ENSG00000184470ENST00000400521p.S411Sc.1233C>ASubstitution - coding silent
CPXM1ENSG00000088882ENST00000380605p.L158Ic.472C>ASubstitution - Missense
ABHD12ENSG00000100997ENST00000339157p.E134*c.400G>TSubstitution - Nonsense
FSCN2ENSG00000186765ENST00000334850p.F367Sc.1100T>CSubstitution - Missense
VEZTENSG00000028203ENST00000436874p.E687Ec.2061A>GSubstitution - coding silent
INSRRENSG00000027644ENST00000368195p.G930Gc.2790G>TSubstitution - coding silent
MYL6ENSG00000092841ENST00000547649p.L52Mc.154C>ASubstitution - Missense
MARCH8ENSG00000165406ENST00000453424p.S206Cc.614A>TSubstitution - Missense
POM121L12ENSG00000221900ENST00000408890p.R132Qc.395G>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000417725p.?c.127+1G>TUnknown
MLIPENSG00000146147ENST00000274897p.E349*c.1045G>TSubstitution - Nonsense
CCNFENSG00000162063ENST00000397066p.H735Nc.2203C>ASubstitution - Missense
LY75ENSG00000054219ENST00000263636p.I1572Ic.4716C>TSubstitution - coding silent
NIF3L1ENSG00000196290ENST00000359683p.D2Gc.5A>GSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.S1217Lc.3650C>TSubstitution - Missense
C19orf73ENSG00000221916ENST00000408991p.P48Pc.144A>CSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.L1220Lc.3658T>CSubstitution - coding silent
JAG1ENSG00000101384ENST00000254958p.?c.2344+5G>AUnknown
LPHN2ENSG00000117114ENST00000370725p.R598Qc.1793G>ASubstitution - Missense
RNASELENSG00000135828ENST00000367559p.V517Fc.1549G>TSubstitution - Missense
ENST00000355015p.P40Hc.119C>ASubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.?c.1194+3G>TUnknown
CCDC88BENSG00000168071ENST00000359902p.L306Lc.918G>TSubstitution - coding silent
EPHB3ENSG00000182580ENST00000330394p.L739Lc.2217G>ASubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.Q713Lc.2138A>TSubstitution - Missense
HLA-DOAENSG00000204252ENST00000229829p.E73Vc.218A>TSubstitution - Missense
FAM13BENSG00000031003ENST00000033079p.R564Ic.1691G>TSubstitution - Missense
FOXB2ENSG00000204612ENST00000376708p.D92Ec.276C>ASubstitution - Missense
XM_498331.1p.D92Ec.276C>ASubstitution - Missense
ZNF66ENSG00000160229ENST00000425625p.H325Dc.973C>GSubstitution - Missense
POGLUT1ENSG00000163389ENST00000295588p.D261Yc.781G>TSubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.E191Kc.571G>ASubstitution - Missense
EML6ENSG00000214595ENST00000356458p.H1080Hc.3240C>TSubstitution - coding silent
ANK2ENSG00000145362ENST00000506722p.Q431Hc.1293G>TSubstitution - Missense
CYB5R2ENSG00000166394ENST00000524790p.?c.388+10G>AUnknown
TCTN3ENSG00000119977ENST00000371217p.Q177Qc.531G>ASubstitution - coding silent
PHF19ENSG00000119403ENST00000373896p.V245Mc.733G>ASubstitution - Missense
FAM196BENSG00000204767ENST00000377365p.K67Nc.201G>TSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.R1253Kc.3758G>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.L648Mc.1942C>ASubstitution - Missense
TNIP1ENSG00000145901ENST00000315050p.P574Pc.1722T>CSubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.S1147Sc.3441G>ASubstitution - coding silent
SLC38A10ENSG00000157637ENST00000288439p.Q33Hc.99G>TSubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.S365Ic.1094G>TSubstitution - Missense
SEPT9ENSG00000184640ENST00000427177p.S116Yc.347C>ASubstitution - Missense
PTAFRENSG00000169403ENST00000305392p.H248Hc.744C>TSubstitution - coding silent
MTHFD1ENSG00000100714ENST00000555709p.Q26Hc.78G>TSubstitution - Missense
ENST00000280576p.I2084Fc.6250A>TSubstitution - Missense
CARD16ENSG00000204397ENST00000375706p.G192Gc.576A>CSubstitution - coding silent
SEMA4BENSG00000185033ENST00000332496p.Q788Lc.2363A>TSubstitution - Missense
GLB1L2ENSG00000149328ENST00000339772p.D363Gc.1088A>GSubstitution - Missense
GPR52ENSG00000203737ENST00000367685p.P296Qc.887C>ASubstitution - Missense
FAM160A2ENSG00000051009ENST00000265978p.S963Sc.2889G>ASubstitution - coding silent
EEA1ENSG00000102189ENST00000322349p.L996Ic.2986C>ASubstitution - Missense
GZMBENSG00000100453ENST00000382542p.D216Yc.646G>TSubstitution - Missense
SLC30A7ENSG00000162695ENST00000357650p.?c.80+8G>AUnknown
SLCO6A1ENSG00000205359ENST00000379807p.E205*c.613G>TSubstitution - Nonsense
C4orf17ENSG00000138813ENST00000326581p.*360Lc.1079A>TNonstop extension
NOP58ENSG00000055044ENST00000264279p.C106Fc.317G>TSubstitution - Missense
LDLRAD4ENSG00000168675ENST00000359446p.R210Mc.629G>TSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.L3003Pc.9008T>CSubstitution - Missense
SU_Erk7p.H561Nc.1681C>ASubstitution - Missense
ARHGEF10ENSG00000104728ENST00000349830p.?c.960+7T>GUnknown
HYAL2ENSG00000068001ENST00000395139p.R367Lc.1100G>TSubstitution - Missense
ABCC12ENSG00000140798ENST00000311303p.G1260Rc.3778G>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000288520p.?c.1085+1G>TUnknown
SRSF1ENSG00000136450ENST00000582730p.F36Lc.108C>ASubstitution - Missense
OR5M9ENSG00000150269ENST00000279791p.V106Vc.318C>GSubstitution - coding silent
MAST4ENSG00000069020ENST00000261569p.S953Sc.2859G>ASubstitution - coding silent
MPDZENSG00000107186ENST00000541718p.P1805Lc.5414C>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.Q713Lc.2138A>TSubstitution - Missense
NM_014353.3p.D149Nc.445G>ASubstitution - Missense
PREX1ENSG00000124126ENST00000396220p.H960Qc.2880C>ASubstitution - Missense
ENST00000400460p.R158Tc.473G>CSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.R1156Kc.3467G>ASubstitution - Missense
KLBENSG00000134962ENST00000257408p.A1015Dc.3044C>ASubstitution - Missense
ENST00000300671p.G1845Gc.5535G>TSubstitution - coding silent
TRPV2ENSG00000187688ENST00000338560p.E584Ec.1752G>ASubstitution - coding silent
DDX59ENSG00000118197ENST00000331314p.S390Rc.1170C>ASubstitution - Missense
ERCC4ENSG00000175595ENST00000311895p.L866Mc.2596T>ASubstitution - Missense
NM_004667.3p.P410Ac.1228C>GSubstitution - Missense
GZMBENSG00000100453ENST00000216341p.D182Yc.544G>TSubstitution - Missense
LARP4ENSG00000161813ENST00000398473p.Y334Sc.1001A>CSubstitution - Missense
TAF5LENSG00000135801ENST00000258281p.A237Dc.710C>ASubstitution - Missense
RHBGENSG00000132677ENST00000368249p.G409Cc.1225G>TSubstitution - Missense
GPR144ENSG00000180264ENST00000334810p.?c.1165-10C>TUnknown
NM_003829.1p.?c.5423-6C>TUnknown
ENST00000371401p.L49Ic.145C>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.V2971Lc.8911G>TSubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.M1944Ic.5832G>TSubstitution - Missense
SLC4A10ENSG00000144290ENST00000375514p.?c.1561-3C>TUnknown
ELMO1ENSG00000155849ENST00000310758p.E627*c.1879G>TSubstitution - Nonsense
VSTM2AENSG00000170419ENST00000402026p.I183Ic.549C>ASubstitution - coding silent
CD74ENSG00000019582ENST00000377795p.N26Kc.78C>GSubstitution - Missense
GHDCENSG00000167925ENST00000301671p.G422Vc.1265G>TSubstitution - Missense
PET112ENSG00000059691ENST00000263985p.G9Vc.26G>TSubstitution - Missense
LRRC2ENSG00000163827ENST00000296144p.?c.1067-1G>TUnknown
ZNF670ENSG00000135747ENST00000366503p.K307Nc.921G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.G3139Ec.9416G>ASubstitution - Missense
SIPA1L2ENSG00000116991ENST00000308942p.L710Lc.2130G>TSubstitution - coding silent
DDX59ENSG00000118197ENST00000367348p.S390Rc.1170C>ASubstitution - Missense
MEF2DENSG00000116604ENST00000340875p.M29Ic.87G>TSubstitution - Missense
GSTM4ENSG00000168765ENST00000326729p.Y116Cc.347A>GSubstitution - Missense
KLK12ENSG00000186474ENST00000525263p.T135Sc.403A>TSubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.Q238Ec.712C>GSubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.T130Tc.390C>TSubstitution - coding silent
PTPRMENSG00000173482ENST00000400060p.?c.3922-5T>AUnknown
IQCHENSG00000103599ENST00000360277p.D411Nc.1231G>ASubstitution - Missense
ENST00000314583_v70p.E277Ec.831G>ASubstitution - coding silent
CTNNA2ENSG00000066032ENST00000361291p.D129Vc.386A>TSubstitution - Missense
MDH1ENSG00000014641ENST00000539945p.T243Mc.728C>TSubstitution - Missense
ANO7ENSG00000146205ENST00000402530p.H87Hc.261C>TSubstitution - coding silent
MROH2AENSG00000185038ENST00000389758p.S983Gc.2947A>GSubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.V693Mc.2077G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000381285p.A1409Tc.4225G>ASubstitution - Missense
RAI14ENSG00000039560ENST00000397449p.E523Ec.1569G>ASubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000274609p.R368Lc.1103G>TSubstitution - Missense
TNIP1ENSG00000145901ENST00000523338p.P574Pc.1722T>CSubstitution - coding silent
ENST00000448712p.S397Nc.1190G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000327397p.?c.734-10T>CUnknown
RGS12ENSG00000159788ENST00000338806p.T599Tc.1797A>GSubstitution - coding silent
ADD1ENSG00000087274ENST00000398125p.K80Nc.240G>TSubstitution - Missense
NISCHENSG00000010322ENST00000488380p.A127Gc.380C>GSubstitution - Missense
SH3GLB2ENSG00000148341ENST00000372554p.?c.750+7C>AUnknown
MPDZENSG00000107186ENST00000319217p.P1834Lc.5501C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.?c.3629+1G>TUnknown
ASTN2ENSG00000148219ENST00000313400p.?c.3782+1G>TUnknown
BMP1ENSG00000168487ENST00000397814p.R524Cc.1570C>TSubstitution - Missense
PCM1ENSG00000078674ENST00000325083p.?c.962-8C>AUnknown
ENST00000257665_v70p.?c.953+1G>CUnknown
TNS3ENSG00000136205ENST00000442536p.H77Hc.231C>TSubstitution - coding silent
GABRR2ENSG00000111886ENST00000402938p.S171Lc.512C>TSubstitution - Missense
RICTORENSG00000164327ENST00000296782p.V342Vc.1026G>TSubstitution - coding silent
MEGF11ENSG00000157890ENST00000395625p.Q270Qc.810G>ASubstitution - coding silent
UBE2Q1ENSG00000160714ENST00000292211p.N301Nc.903C>TSubstitution - coding silent
GSTM4ENSG00000168765ENST00000369833p.Y75Cc.224A>GSubstitution - Missense
TNNENSG00000120332ENST00000239462p.R1025Rc.3075G>ASubstitution - coding silent
MYOM3ENSG00000142661ENST00000374434p.?c.3971+1G>AUnknown
A2ML1ENSG00000166535ENST00000299698p.?c.3108-5T>CUnknown
MARK3ENSG00000075413ENST00000416682p.E367*c.1099G>TSubstitution - Nonsense
RHBGENSG00000132677ENST00000368246p.G409Cc.1225G>TSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.A717Ac.2151A>GSubstitution - coding silent
SCNN1AENSG00000111319ENST00000228916p.L74Lc.222G>TSubstitution - coding silent
PCSK5ENSG00000099139ENST00000424854p.R583Kc.1748G>ASubstitution - Missense
COPB2ENSG00000184432ENST00000333188p.?c.1295-8C>AUnknown
CDH3ENSG00000062038ENST00000264012p.Q717Hc.2151G>TSubstitution - Missense
KCNN2ENSG00000080709ENST00000512097p.A57_A58delAAc.160_165delGCCGCCDeletion - In frame
NDUFA11ENSG00000174886ENST00000418389p.K194Nc.582G>TSubstitution - Missense
COG1ENSG00000166685ENST00000299886p.L125*c.374T>GSubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.V3123Ic.9367G>ASubstitution - Missense
IRF8ENSG00000140968ENST00000268638p.L372Lc.1116G>TSubstitution - coding silent
SLC10A4ENSG00000145248ENST00000273861p.?c.801+6G>CUnknown
TLK2ENSG00000146872ENST00000346027p.S365Ic.1094G>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.P952Hc.2855C>ASubstitution - Missense
DNAI1ENSG00000122735ENST00000242317p.?c.1570-8C>AUnknown
PIKFYVEENSG00000115020ENST00000264380p.V1279Lc.3835G>TSubstitution - Missense
INO80DENSG00000114933ENST00000403263p.L802Lc.2406C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.L1220Lc.3658T>CSubstitution - coding silent
GAP43ENSG00000172020ENST00000393780p.D205Yc.613G>TSubstitution - Missense
GRM3ENSG00000198822ENST00000394720p.Y182Fc.545A>TSubstitution - Missense
BMP1ENSG00000168487ENST00000397816p.R524Cc.1570C>TSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.I487Tc.1460T>CSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.H509fs*66c.1525_1526insAInsertion - Frameshift
NWD1ENSG00000188039ENST00000524140p.Q109Kc.325C>ASubstitution - Missense
MED26ENSG00000105085ENST00000263390p.S520Ic.1559G>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.T1744Rc.5231C>GSubstitution - Missense
ENSG00000260537ENST00000567706p.A147Ac.441C>GSubstitution - coding silent
ZFPM2ENSG00000169946ENST00000407775p.R739Ic.2216G>TSubstitution - Missense
DCSTAMPENSG00000164935ENST00000297581p.R92Cc.274C>TSubstitution - Missense
SNX31ENSG00000174226ENST00000311812p.R346Kc.1037G>ASubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.R128Ic.383G>TSubstitution - Missense
VSTM2AENSG00000170419ENST00000407838p.I184Ic.552C>ASubstitution - coding silent
WIPI2ENSG00000157954ENST00000288828p.N358Nc.1074C>TSubstitution - coding silent
NM_058004.1p.M1944Ic.5832G>TSubstitution - Missense
NM_058004.1p.?c.5397+5G>TUnknown
PI4KAENSG00000241973ENST00000572273p.?c.5397+5G>TUnknown
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.P1611Rc.4832C>GSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.P1611Rc.4832C>GSubstitution - Missense
PDGFRAENSG00000134853ENST00000257290p.R1062Rc.3186A>GSubstitution - coding silent
ZEB2ENSG00000169554ENST00000303660p.A124Sc.370G>TSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.H960Qc.2880C>ASubstitution - Missense
IFT52ENSG00000101052ENST00000373039p.?c.1011+9G>TUnknown
CHD6ENSG00000124177ENST00000373233p.G2699Ec.8096G>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.P278Qc.833C>ASubstitution - Missense
USP20ENSG00000136878ENST00000315480p.P278Qc.833C>ASubstitution - Missense
NM_178001.1p.T182Mc.545C>TSubstitution - Missense
SH3GLB2ENSG00000148341ENST00000372559p.?c.738+7C>AUnknown
GLE1ENSG00000119392ENST00000309971p.R337Sc.1011G>TSubstitution - Missense
GLE1ENSG00000119392ENST00000372770p.R337Sc.1011G>TSubstitution - Missense
PPP6CENSG00000119414ENST00000373547p.H226Nc.676C>ASubstitution - Missense
STRBPENSG00000165209ENST00000447404p.D76Yc.226G>TSubstitution - Missense
OR1N1ENSG00000171505ENST00000304880p.E194Dc.582G>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.K1087delKc.3255_3257delGAADeletion - In frame
TNFSF8ENSG00000106952ENST00000223795p.D196Gc.587A>GSubstitution - Missense
TNFSF8ENSG00000106952ENST00000223795p.D196Yc.586G>TSubstitution - Missense
NM_138995p.G1076Rc.3226G>ASubstitution - Missense
SLC38A11ENSG00000169507ENST00000303735p.?c.861+9G>TUnknown
SLC4A10ENSG00000144290ENST00000446997p.?c.1618-3C>TUnknown
TOP3BENSG00000100038ENST00000357179p.E91*c.271G>TSubstitution - Nonsense
PPM1FENSG00000100034ENST00000263212p.D360Yc.1078G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.S958Sc.2874G>ASubstitution - coding silent
SUPT3HENSG00000196284ENST00000371460p.D156Yc.466G>TSubstitution - Missense
SUPT3HENSG00000196284ENST00000371459p.D145Yc.433G>TSubstitution - Missense
TAF11ENSG00000064995ENST00000361288p.A44Ec.131C>ASubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.T1383Tc.4149A>GSubstitution - coding silent
TAP1ENSG00000168394ENST00000354258p.G700Rc.2098G>ASubstitution - Missense
ZNF454ENSG00000178187ENST00000320129p.A308Sc.922G>TSubstitution - Missense
UNC5AENSG00000113763ENST00000261961p.G39Gc.117C>ASubstitution - coding silent
DOCK2ENSG00000134516ENST00000256935p.W96Rc.286T>CSubstitution - Missense
RAPGEF2ENSG00000109756ENST00000264431p.?c.193-9T>CUnknown
ATP13A5ENSG00000187527ENST00000342358p.G360Vc.1079G>TSubstitution - Missense
LEPREL1ENSG00000090530ENST00000319332p.?c.1229+7C>AUnknown
ITGA5ENSG00000161638ENST00000293379p.D809Yc.2425G>TSubstitution - Missense
PITPNM2ENSG00000090975ENST00000280562p.?c.3246-10C>TUnknown
OR9Q2ENSG00000186513ENST00000311591p.R50Lc.149G>TSubstitution - Missense
FOLH1ENSG00000086205ENST00000256999p.L261Lc.781C>TSubstitution - coding silent
TTC12ENSG00000149292ENST00000314756p.M151Ic.453G>TSubstitution - Missense
CRTAC1ENSG00000095713ENST00000370591p.R436Wc.1306C>TSubstitution - Missense
STAMBPL1ENSG00000138134ENST00000371924p.S285Yc.854C>ASubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.P409Hc.1226C>ASubstitution - Missense
MTHFD1ENSG00000100714ENST00000216605p.Q82Lc.245A>TSubstitution - Missense
MTHFD1ENSG00000100714ENST00000216605p.Q82Hc.246G>TSubstitution - Missense
GZMBENSG00000100453ENST00000382540p.D137Yc.409G>TSubstitution - Missense
MARK3ENSG00000075413ENST00000429436p.E344*c.1030G>TSubstitution - Nonsense
GAB1ENSG00000109458ENST00000262995p.E571Kc.1711G>ASubstitution - Missense
NM_001184p.C234*c.702T>ASubstitution - Nonsense
XRN1ENSG00000114127ENST00000264951p.?c.3672+5G>TUnknown
DNAJC13ENSG00000138246ENST00000260818p.?c.1350-6C>TUnknown
ACAD11ENSG00000240303ENST00000264990p.L687Fc.2061G>TSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.E277Ec.831G>ASubstitution - coding silent
NM_006596.3p.L1611Ic.4831C>ASubstitution - Missense
GPR156ENSG00000175697ENST00000315843p.V410Ic.1228G>ASubstitution - Missense
ZDHHC23ENSG00000184307ENST00000330212p.I93Ic.279C>TSubstitution - coding silent
KIAA2018ENSG00000176542ENST00000316407p.G801Cc.2401G>TSubstitution - Missense
MMP25ENSG00000008516ENST00000336577p.A193Dc.578C>ASubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.P1160Tc.3478C>ASubstitution - Missense
SEPT1ENSG00000180096ENST00000571393p.L124Lc.372G>ASubstitution - coding silent
ZG16BENSG00000162078ENST00000382280p.V86Vc.258G>TSubstitution - coding silent
EYSENSG00000188107ENST00000370621p.C385Fc.1154G>TSubstitution - Missense
TXNDC2ENSG00000168454ENST00000306084p.K436Nc.1308G>TSubstitution - Missense
TXNDC2ENSG00000168454ENST00000357775p.K369Nc.1107G>TSubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.?c.3880-5T>AUnknown
SALL3ENSG00000256463ENST00000537592p.S405Pc.1213T>CSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.G2899Rc.8695G>ASubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.P514Sc.1540C>TSubstitution - Missense
ENST00000341011p.P45Lc.134C>TSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.T561Tc.1683G>ASubstitution - coding silent
PEX12ENSG00000108733ENST00000225873p.L37Ic.109C>ASubstitution - Missense
GJA10ENSG00000135355ENST00000369352p.K531Ec.1591A>GSubstitution - Missense
ENST00000229606p.S146Lc.437C>TSubstitution - Missense
RWDD2AENSG00000013392ENST00000369724p.K217Nc.651G>TSubstitution - Missense
OR13C5ENSG00000255800ENST00000374779p.G253Wc.757G>TSubstitution - Missense
MAMDC4ENSG00000177943ENST00000317446p.A1040Sc.3118G>TSubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.A1119Sc.3355G>TSubstitution - Missense
STK32AENSG00000169302ENST00000398521p.R27Pc.80G>CSubstitution - Missense
ARAP3ENSG00000120318ENST00000239440p.L987Ic.2959C>ASubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.?c.1061+10G>CUnknown
LRRC31ENSG00000114248ENST00000316428p.V426Vc.1278G>TSubstitution - coding silent
SERPINI2ENSG00000114204ENST00000476257p.D2Yc.4G>TSubstitution - Missense
CATSPERGENSG00000099338ENST00000312265p.I377Vc.1129A>GSubstitution - Missense
CATSPERGENSG00000099338ENST00000409235p.?c.1367-3C>AUnknown
ZNF529ENSG00000186020ENST00000334116p.R379Ic.1136G>TSubstitution - Missense
ZNF529ENSG00000186020ENST00000334116p.R379Ic.1136G>TSubstitution - Missense
HEATR6ENSG00000068097ENST00000184956p.V394Fc.1180G>TSubstitution - Missense
EPXENSG00000121053ENST00000225371p.M476Ic.1428G>ASubstitution - Missense
SRSF1ENSG00000136450ENST00000258962p.F36Lc.108C>ASubstitution - Missense
CUEDC1ENSG00000180891ENST00000577830p.S166Ic.497G>TSubstitution - Missense
FAM13BENSG00000031003ENST00000425075p.R468Ic.1403G>TSubstitution - Missense
GPR101ENSG00000165370ENST00000298110p.S163Tc.488G>CSubstitution - Missense
URGCPENSG00000106608ENST00000223341p.W247Lc.740G>TSubstitution - Missense
BLVRAENSG00000106605ENST00000265523p.D254Yc.760G>TSubstitution - Missense
ENST00000262969p.?c.20-10C>TUnknown
RYR1ENSG00000196218ENST00000359596p.R3499Rc.10497G>TSubstitution - coding silent
FOXB2ENSG00000204612ENST00000376708p.D92Ec.276C>ASubstitution - Missense
FOXB2ENSG00000204612ENST00000376708p.C93Sc.277T>ASubstitution - Missense
FOXB2ENSG00000204612ENST00000376708p.C93Sc.277T>ASubstitution - Missense
XM_498331.1p.C93Sc.277T>ASubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.G1561Vc.4682G>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.H77Hc.231C>TSubstitution - coding silent
MYO1GENSG00000136286ENST00000258787p.F483Ic.1447T>ASubstitution - Missense
REPIN1ENSG00000214022ENST00000489432p.R276Hc.827G>ASubstitution - Missense
REPIN1ENSG00000214022ENST00000397281p.R219Hc.656G>ASubstitution - Missense
FAM115CENSG00000170379ENST00000357344p.V784Ac.2351T>CSubstitution - Missense
C7orf60ENSG00000164603ENST00000297145p.E73*c.217G>TSubstitution - Nonsense
C6orf15ENSG00000204542ENST00000259870p.S163*c.488C>ASubstitution - Nonsense
MDC1ENSG00000137337ENST00000376406p.L648Mc.1942C>ASubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.P1539Tc.4615C>ASubstitution - Missense
CD74ENSG00000019582ENST00000009530p.N26Kc.78C>GSubstitution - Missense
ZNF638ENSG00000075292ENST00000264447p.V238Vc.714C>ASubstitution - coding silent
ENST00000544512p.V344Vc.1032C>ASubstitution - coding silent
CDH3ENSG00000062038ENST00000429102p.Q717Hc.2151G>TSubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.P773Pc.2319C>ASubstitution - coding silent
PRMT7ENSG00000132600ENST00000339507p.L141Lc.423G>CSubstitution - coding silent
KCNN2ENSG00000080709ENST00000264773p.A57_A58delAAc.160_165delGCCGCCDeletion - In frame
TSSK1BENSG00000212122ENST00000390666p.I263Ic.789C>TSubstitution - coding silent
CTNND2ENSG00000169862ENST00000304623p.M558Ic.1674G>ASubstitution - Missense
CAMK4ENSG00000152495ENST00000512453p.D128Yc.382G>TSubstitution - Missense
MARCH6ENSG00000145495ENST00000274140p.R554*c.1660C>TSubstitution - Nonsense
TRAK1ENSG00000182606ENST00000341421p.L380Lc.1138C>TSubstitution - coding silent
TRAK1ENSG00000182606ENST00000396175p.L380Lc.1138C>TSubstitution - coding silent
ENST00000543338p.L438Lc.1312C>TSubstitution - coding silent
SCN10AENSG00000185313ENST00000449082p.Q1431Kc.4291C>ASubstitution - Missense
BUB1ENSG00000169679ENST00000302759p.P417Tc.1249C>ASubstitution - Missense
CD36ENSG00000135218ENST00000447544p.A141Ac.423T>ASubstitution - coding silent
PLEKHA8ENSG00000106086ENST00000449726p.E303*c.907G>TSubstitution - Nonsense
HOXA13ENSG00000106031ENST00000222753p.P313Sc.937C>TSubstitution - Missense
MAP7ENSG00000135525ENST00000354570p.F589Lc.1767C>ASubstitution - Missense
DROSHAENSG00000113360ENST00000511367p.P1072Lc.3215C>TSubstitution - Missense
DROSHAENSG00000113360ENST00000511367p.K214Nc.642G>TSubstitution - Missense
ANXA4ENSG00000196975ENST00000394295p.K59Rc.176A>GSubstitution - Missense
EHBP1ENSG00000115504ENST00000263991p.D509Yc.1525G>TSubstitution - Missense
PUS10ENSG00000162927ENST00000316752p.E259Qc.775G>CSubstitution - Missense
BCL11AENSG00000119866ENST00000356842p.S612Lc.1835C>TSubstitution - Missense
RTN4ENSG00000115310ENST00000337526p.?c.613+8C>AUnknown
USP40ENSG00000085982ENST00000450966p.E775Dc.2325G>TSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.G708Cc.2122G>TSubstitution - Missense
ARMC9ENSG00000135931ENST00000349938p.I198Mc.594A>GSubstitution - Missense
ENST00000359743p.I198Mc.594A>GSubstitution - Missense
SP140ENSG00000079263ENST00000392045p.R513Ic.1538G>TSubstitution - Missense
PTPN4ENSG00000088179ENST00000263708p.E596Kc.1786G>ASubstitution - Missense
SLC20A1ENSG00000144136ENST00000272542p.I620Vc.1858A>GSubstitution - Missense
SH3KBP1ENSG00000147010ENST00000397821p.M599Lc.1795A>TSubstitution - Missense
SH3KBP1ENSG00000147010ENST00000379698p.M562Lc.1684A>TSubstitution - Missense
GRM3ENSG00000198822ENST00000361669p.Y184Fc.551A>TSubstitution - Missense
CD36ENSG00000135218ENST00000435819p.A141Ac.423T>ASubstitution - coding silent
CUX1ENSG00000257923ENST00000292538p.E202Kc.604G>ASubstitution - Missense
PAPD4ENSG00000164329ENST00000296783p.R303Rc.909A>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.S2462Fc.7385C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.S2283Fc.6848C>TSubstitution - Missense
TPPPENSG00000171368ENST00000360578p.R165Sc.495G>TSubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.W1892Lc.5675G>TSubstitution - Missense
LMF2ENSG00000100258ENST00000216080p.S645Tc.1934G>CSubstitution - Missense
KIAA0930ENSG00000100364ENST00000251993p.W105*c.315G>ASubstitution - Nonsense
KIAA0930ENSG00000100364ENST00000336156p.W100*c.300G>ASubstitution - Nonsense
IFT122ENSG00000163913ENST00000296266p.E857Kc.2569G>ASubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.?c.3632-10C>TUnknown
ENST00000398240p.Y252Yc.756C>TSubstitution - coding silent
GRIN2DENSG00000105464ENST00000263269p.?c.2253-4C>TUnknown
PLA2G4CENSG00000105499ENST00000413144p.S377Ic.1130G>TSubstitution - Missense
ZNF43ENSG00000198521ENST00000354959p.S167Ic.500G>TSubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.Q238Ec.712C>GSubstitution - Missense
IL12RB1ENSG00000096996ENST00000322153p.Q238Ec.712C>GSubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.T130Tc.390C>TSubstitution - coding silent
IL12RB1ENSG00000096996ENST00000322153p.T130Tc.390C>TSubstitution - coding silent
ENST00000373468p.A94Tc.280G>ASubstitution - Missense
IL2RGENSG00000147168ENST00000374202p.K315Ec.943A>GSubstitution - Missense
IL2RGENSG00000147168ENST00000374202p.K315Ec.943A>GSubstitution - Missense
GTF2IENSG00000077809ENST00000324896p.K160Ec.478A>GSubstitution - Missense
JADE2ENSG00000043143ENST00000395003p.S381Nc.1142G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.K2772Mc.8315A>TSubstitution - Missense
C1QTNF7ENSG00000163145ENST00000429690p.P133Pc.399G>ASubstitution - coding silent
TIGD4ENSG00000169989ENST00000304337p.D212Yc.634G>TSubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.T677Tc.2031C>ASubstitution - coding silent
WDR27ENSG00000184465ENST00000333572p.S514Ic.1541G>TSubstitution - Missense
NPRL2ENSG00000114388ENST00000232501p.E182Ec.546G>ASubstitution - coding silent
ANO7ENSG00000146205ENST00000402430p.H87Hc.261C>TSubstitution - coding silent
CASP8ENSG00000064012ENST00000358485p.?c.1_35>GUnknown
NIF3L1ENSG00000196290ENST00000409020p.D29Gc.86A>GSubstitution - Missense
ENST00000356127p.T21815Tc.65445T>CSubstitution - coding silent
NM_003319p.T15320Tc.45960T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.Q31001Ec.93001C>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.Q24629Ec.73885C>GSubstitution - Missense
ENST00000356127p.Q30999Ec.92995C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.Q24696Ec.74086C>GSubstitution - Missense
NM_003319p.Q24504Ec.73510C>GSubstitution - Missense
OSBPL6ENSG00000079156ENST00000190611p.V689Mc.2065G>ASubstitution - Missense
TTC30AENSG00000197557ENST00000355689p.G144Ec.431G>ASubstitution - Missense
ENSG00000161103ENST00000342005p.D294Vc.881A>TSubstitution - Missense
BPIFB6ENSG00000167104ENST00000349552p.L74Lc.222G>TSubstitution - coding silent
PLAGL2ENSG00000126003ENST00000246229p.G141Rc.421G>CSubstitution - Missense
ABHD12ENSG00000100997ENST00000376542p.E134*c.400G>TSubstitution - Nonsense
ROCK1ENSG00000067900ENST00000399799p.E1230Ec.3690G>ASubstitution - coding silent
LDLRAD4ENSG00000168675ENST00000361205p.R247Mc.740G>TSubstitution - Missense
C18orf25ENSG00000152242ENST00000282059p.G82Cc.244G>TSubstitution - Missense
RNF165ENSG00000141622ENST00000269439p.P23Pc.69C>GSubstitution - coding silent
LRRCC1ENSG00000133739ENST00000360375p.L160Fc.480G>TSubstitution - Missense
PAG1ENSG00000076641ENST00000220597p.V184Mc.550G>ASubstitution - Missense
NM_014629.1p.?c.291+7T>GUnknown
LAMA5ENSG00000130702ENST00000252999p.Q3563Qc.10689G>ASubstitution - coding silent
ZNF813ENSG00000198346ENST00000396403p.A567Sc.1699G>TSubstitution - Missense
ZNF816ENSG00000180257ENST00000357666p.V433Fc.1297G>TSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.V140Lc.418G>TSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.Y129*c.387C>ASubstitution - Nonsense
LMF1ENSG00000103227ENST00000262301p.M466Lc.1396A>TSubstitution - Missense
GAS8ENSG00000141013ENST00000268699p.Q218Qc.654G>ASubstitution - coding silent
CDH15ENSG00000129910ENST00000289746p.R775Rc.2323C>ASubstitution - coding silent
JPH3ENSG00000154118ENST00000284262p.?c.1160+10C>TUnknown
METTL22ENSG00000067365ENST00000381920p.G120Rc.358G>ASubstitution - Missense
NM_020654.2p.N406Dc.1216A>GSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.D512Yc.1534G>TSubstitution - Missense
HADHAENSG00000084754ENST00000380649p.A584Vc.1751C>TSubstitution - Missense
EFR3BENSG00000084710ENST00000403714p.R656Pc.1967G>CSubstitution - Missense
ENST00000544929p.S208Sc.624G>TSubstitution - coding silent
SLC9B2ENSG00000164038ENST00000394785p.T22Mc.65C>TSubstitution - Missense
SLC9B2ENSG00000164038ENST00000362026p.T22Mc.65C>TSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.E841*c.2521G>TSubstitution - Nonsense
NEK10ENSG00000163491ENST00000341435p.G517Cc.1549G>TSubstitution - Missense
BDH1ENSG00000161267ENST00000392378p.S70Sc.210A>GSubstitution - coding silent
GCKRENSG00000084734ENST00000264717p.I447Ic.1341C>ASubstitution - coding silent
LIME1ENSG00000203896ENST00000309546p.*296fs*>3c.884_885insTCCCTGCCInsertion - Frameshift
SHANK3ENSG00000251322ENST00000262795p.R332Mc.995G>TSubstitution - Missense
SLC16A6ENSG00000108932ENST00000327268p.F32Lc.96C>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.D136Yc.406G>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.D136Yc.406G>TSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.E990*c.2968G>TSubstitution - Nonsense
MAPK10ENSG00000109339ENST00000359221p.T308Tc.924C>GSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.P2820Pc.8460A>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.P2820Pc.8460A>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.C827Fc.2480G>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.C827Fc.2480G>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.C827Fc.2480G>TSubstitution - Missense
OSTCENSG00000198856ENST00000361564p.S107Sc.321G>TSubstitution - coding silent
BTDENSG00000169814ENST00000303498p.G410Vc.1229G>TSubstitution - Missense
P2RY13ENSG00000181631ENST00000325602p.G58Cc.172G>TSubstitution - Missense
P2RY13ENSG00000181631ENST00000325602p.G37Cc.109G>TSubstitution - Missense
CTNNA2ENSG00000066032ENST00000466387p.D95Vc.284A>TSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.I817Mc.2451T>GSubstitution - Missense
ST6GALNAC2ENSG00000070731ENST00000225276p.V201Mc.601G>ASubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.V774Vc.2322G>TSubstitution - coding silent
ADAMTS10ENSG00000142303ENST00000270328p.D689Ec.2067C>ASubstitution - Missense
MCOLN1ENSG00000090674ENST00000264079p.G269Rc.805G>ASubstitution - Missense
EMR1ENSG00000174837ENST00000312053p.R166Sc.498A>TSubstitution - Missense
RHOXF2ENSG00000131721ENST00000371388p.D108Yc.322G>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.L1627Mc.4879C>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.L1495Mc.4483C>ASubstitution - Missense
ANKRD18AENSG00000180071ENST00000399703p.D95Dc.285C>TSubstitution - coding silent
CNTFRENSG00000122756ENST00000351266p.V295Vc.885A>CSubstitution - coding silent
TAF1LENSG00000122728ENST00000242310p.D149Gc.446A>GSubstitution - Missense
SCINENSG00000006747ENST00000297029p.A190Ec.569C>ASubstitution - Missense
FAM65CENSG00000042062ENST00000327979p.Y356*c.1068C>ASubstitution - Nonsense
ATRNENSG00000088812ENST00000262919p.A966Sc.2896G>TSubstitution - Missense
NFS1ENSG00000244005ENST00000374092p.G352Vc.1055G>TSubstitution - Missense
KLK12ENSG00000186474ENST00000250351p.T135Sc.403A>TSubstitution - Missense
SPAG5ENSG00000076382ENST00000321765p.L438Lc.1314G>CSubstitution - coding silent
TSR1ENSG00000167721ENST00000301364p.E47*c.139G>TSubstitution - Nonsense
CCDC144NLENSG00000205212ENST00000327925p.Q32Hc.96G>CSubstitution - Missense
BPTFENSG00000171634ENST00000306378p.?c.5428+9G>TUnknown
LRRC37A3ENSG00000176809ENST00000319651p.S1467*c.4400C>ASubstitution - Nonsense
TLK2ENSG00000146872ENST00000326270p.S365Ic.1094G>TSubstitution - Missense
MBOAT4ENSG00000177669ENST00000320542p.S45Nc.134G>ASubstitution - Missense
PNOCENSG00000168081ENST00000301908p.L41Mc.121C>ASubstitution - Missense
CCAR2ENSG00000158941ENST00000389279p.D301Yc.901G>TSubstitution - Missense
MITFENSG00000187098ENST00000352241p.?c.583-1G>TUnknown
MITFENSG00000187098ENST00000314589p.?c.535-1G>TUnknown
MITFENSG00000187098ENST00000394351p.?c.262-1G>TUnknown
MITFENSG00000187098ENST00000328528p.?c.580-1G>TUnknown
TMF1ENSG00000144747ENST00000398559p.V597Fc.1789G>TSubstitution - Missense
KBTBD8ENSG00000163376ENST00000295568p.A211Ac.633T>GSubstitution - coding silent
ERC2ENSG00000187672ENST00000288221p.H470Hc.1410C>TSubstitution - coding silent
GDAENSG00000119125ENST00000358399p.R14Qc.41G>ASubstitution - Missense
GDAENSG00000119125ENST00000238018p.R14Qc.41G>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.S1217Lc.3650C>TSubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.G760Gc.2280C>ASubstitution - coding silent
ENST00000317571_v68p.A154Tc.460G>ASubstitution - Missense
TTC39CENSG00000168234ENST00000304621p.A93Tc.277G>ASubstitution - Missense
ENST00000317571_v68p.?c.460+1G>TUnknown
TTC39CENSG00000168234ENST00000304621p.?c.277+1G>TUnknown
FSCN2ENSG00000186765ENST00000334850p.F367Sc.1100T>CSubstitution - Missense
SLC38A10ENSG00000157637ENST00000374759p.Q33Hc.99G>TSubstitution - Missense
ENST00000436173p.V1075Mc.3223G>ASubstitution - Missense
RPTORENSG00000141564ENST00000306801p.T135Tc.405G>ASubstitution - coding silent
WDR19ENSG00000157796ENST00000399820p.R194Gc.580C>GSubstitution - Missense
KIAA1239ENSG00000174145ENST00000309447p.Q1265Ec.3793C>GSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.R2258Rc.6774A>GSubstitution - coding silent
BACH1ENSG00000156273ENST00000399921p.E358*c.1072G>TSubstitution - Nonsense
KRTAP4-3ENSG00000196156ENST00000391356p.Q21Ec.61C>GSubstitution - Missense
C16orf89ENSG00000153446ENST00000472572p.S20Sc.60C>TSubstitution - coding silent
C16orf89ENSG00000153446ENST00000422873p.S58Sc.174C>TSubstitution - coding silent
PPLENSG00000118898ENST00000345988p.E936*c.2806G>TSubstitution - Nonsense
ABCC12ENSG00000140798ENST00000311303p.V973Vc.2919C>ASubstitution - coding silent
CCDC158ENSG00000163749ENST00000388914p.?c.803+5G>TUnknown
NM_032217.3p.G2439Vc.7316G>TSubstitution - Missense
GCENSG00000145321ENST00000504199p.V345Vc.1035A>TSubstitution - coding silent
ZNF34ENSG00000196378ENST00000343459p.G359Vc.1076G>TSubstitution - Missense
NM_004260.1p.P532Pc.1596C>ASubstitution - coding silent
PPP1R9AENSG00000158528ENST00000433360p.W1008Lc.3023G>TSubstitution - Missense
XM_374491.1p.W986Lc.2957G>TSubstitution - Missense
FAM133BENSG00000234545ENST00000445716p.R131Qc.392G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.W1753Lc.5258G>TSubstitution - Missense
PHF10ENSG00000130024ENST00000339209p.?c.544-5T>CUnknown
FLGENSG00000143631ENST00000368799p.Q3847Kc.11539C>ASubstitution - Missense
TCHHL1ENSG00000182898ENST00000368806p.K282fs*106c.845delADeletion - Frameshift
LINGO4ENSG00000213171ENST00000368820p.R563Lc.1688G>TSubstitution - Missense
LINGO4ENSG00000213171ENST00000368820p.A386Sc.1156G>TSubstitution - Missense
FAM231DENSG00000203815ENST00000369173p.A108Sc.322G>TSubstitution - Missense
B3GNT4ENSG00000176383ENST00000324189p.A323Sc.967G>TSubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.T500Pc.1498A>CSubstitution - Missense
NM_032590.2p.T139Pc.415A>CSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.L267Vc.799C>GSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.L267Vc.799C>GSubstitution - Missense
SLTMENSG00000137776ENST00000380516p.G1012Gc.3036C>ASubstitution - coding silent
FAM227BENSG00000166262ENST00000299338p.?c.874+3A>GUnknown
CHI3L1ENSG00000133048ENST00000255409p.?c.315-2A>CUnknown
ENST00000367349p.S390Rc.1170C>ASubstitution - Missense
LCE1FENSG00000240386ENST00000334371p.G64Gc.192T>CSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.S2138Cc.6413C>GSubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.E111Dc.333G>TSubstitution - Missense
RASSF8ENSG00000123094ENST00000541490p.K297Nc.891G>TSubstitution - Missense
RASSF8ENSG00000123094ENST00000381352p.K297Nc.891G>TSubstitution - Missense
SU_LRRK1p.D415Ec.1245C>ASubstitution - Missense
FANCMENSG00000187790ENST00000267430p.R405Lc.1214G>TSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.L1057Lc.3171G>ASubstitution - coding silent
ASB17ENSG00000154007ENST00000284142p.A103Sc.307G>TSubstitution - Missense
RNF207ENSG00000158286ENST00000377939p.R348Hc.1043G>ASubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.?c.5257_6858del1602Unknown
OR2T4ENSG00000196944ENST00000366475p.A151Dc.452C>ASubstitution - Missense
OR2G2ENSG00000177489ENST00000320065p.A148Ec.443C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.?c.6086-1G>TUnknown
PDE4DIPENSG00000178104ENST00000369354p.?c.6086-1G>TUnknown
PDE4DIPENSG00000178104ENST00000313382p.?c.5768-1G>TUnknown
MMP17ENSG00000198598ENST00000360564p.?c.1462+1G>AUnknown
GPR133ENSG00000111452ENST00000261654p.D52Yc.154G>TSubstitution - Missense
GPR133ENSG00000111452ENST00000261654p.G104Rc.310G>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.I3492Fc.10474A>TSubstitution - Missense
ATP6V0A2ENSG00000185344ENST00000330342p.F803Fc.2409C>TSubstitution - coding silent
PITPNM2ENSG00000090975ENST00000320201p.?c.3264-10C>TUnknown
C7ENSG00000112936ENST00000313164p.E796*c.2386G>TSubstitution - Nonsense
C9ENSG00000113600ENST00000263408p.S2Pc.4T>CSubstitution - Missense
FYBENSG00000082074ENST00000505428p.G383Gc.1149C>ASubstitution - coding silent
FYBENSG00000082074ENST00000351578p.G383Gc.1149C>ASubstitution - coding silent
RAI14ENSG00000039560ENST00000265109p.E530Ec.1590G>ASubstitution - coding silent
RAD1ENSG00000113456ENST00000382038p.?c.665+3C>AUnknown
SPATA13ENSG00000182957ENST00000343003p.E26*c.76G>TSubstitution - Nonsense
COL4A1ENSG00000187498ENST00000375820p.Q551fs*4c.1652delADeletion - Frameshift
IQCHENSG00000103599ENST00000335894p.D750Nc.2248G>ASubstitution - Missense
SLC24A1ENSG00000074621ENST00000261892p.S1026Cc.3077C>GSubstitution - Missense
PPP2R5EENSG00000154001ENST00000337537p.E436Dc.1308G>TSubstitution - Missense
CCDC175ENSG00000151838ENST00000281581p.Q801Kc.2401C>ASubstitution - Missense
C2orf80ENSG00000188674ENST00000341287p.A146Ec.437C>ASubstitution - Missense
STAT1ENSG00000115415ENST00000361099p.V389Lc.1165G>TSubstitution - Missense
ANKARENSG00000151687ENST00000520309p.R872Ic.2615G>TSubstitution - Missense
ZNF385BENSG00000144331ENST00000409343p.?c.443-5C>AUnknown
NKX2-4ENSG00000125816ENST00000351817p.P36Tc.106C>ASubstitution - Missense
ZNF560ENSG00000198028ENST00000301480p.S684Fc.2051C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A4075Sc.12223G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A4075Sc.12223G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E6062Dc.18186G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E6062Dc.18186G>CSubstitution - Missense
PNPOENSG00000108439ENST00000225573p.M81Ic.243G>TSubstitution - Missense
DNAAF1ENSG00000154099ENST00000378553p.L633Lc.1897T>CSubstitution - coding silent
ZFP1ENSG00000184517ENST00000393430p.P103_Y104insPc.308_309insACCInsertion - In frame
C19orf73ENSG00000221916ENST00000408991p.P48Pc.144A>CSubstitution - coding silent
TLE6ENSG00000104953ENST00000452088p.A45Sc.133G>TSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.L461Fc.1381C>TSubstitution - Missense
BAG3ENSG00000151929ENST00000369085p.I454Ic.1362C>ASubstitution - coding silent
EIF3AENSG00000107581ENST00000369144p.L612Lc.1836G>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.G3141Ec.9422G>ASubstitution - Missense
ANKS1BENSG00000185046ENST00000549493p.K482Nc.1446G>TSubstitution - Missense
ENST00000342887p.L218Ic.652C>ASubstitution - Missense
VEZTENSG00000028203ENST00000436874p.E687Ec.2061A>GSubstitution - coding silent
EEA1ENSG00000102189ENST00000322349p.?c.4114-9C>AUnknown
NLRP14ENSG00000158077ENST00000299481p.Y1035Hc.3103T>CSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.A38Ac.114C>ASubstitution - coding silent
CABP2ENSG00000167791ENST00000294288p.?c.489+1G>TUnknown
CCDC87ENSG00000182791ENST00000333861p.D654Yc.1960G>TSubstitution - Missense
TAF6LENSG00000162227ENST00000294168p.L36Lc.108C>ASubstitution - coding silent
PGA5ENSG00000256713ENST00000312403p.I275Tc.824T>CSubstitution - Missense
LTB4RENSG00000213903ENST00000396782p.R50Pc.149G>CSubstitution - Missense
FCRL6ENSG00000181036ENST00000368106p.T36Tc.108T>ASubstitution - coding silent
FMO1ENSG00000010932ENST00000354841p.P336Pc.1008C>ASubstitution - coding silent
SLC7A1ENSG00000139514ENST00000380752p.D451Vc.1352A>TSubstitution - Missense
DRAM1ENSG00000136048ENST00000258534p.?c.199+5G>CUnknown
UHRF1BP1LENSG00000111647ENST00000279907p.D1114Yc.3340G>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.G136Gc.408G>TSubstitution - coding silent
SORCS1ENSG00000108018ENST00000344440p.E996Ec.2988G>ASubstitution - coding silent
CCDC147ENSG00000120051ENST00000369704p.V744Vc.2232G>TSubstitution - coding silent
RNF141ENSG00000110315ENST00000265981p.A119Sc.355G>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.Q865*c.2593C>TSubstitution - Nonsense
CCDC153ENSG00000248712ENST00000503566p.R89Lc.266G>TSubstitution - Missense
ENST00000375140p.R3Lc.8G>TSubstitution - Missense
NXPE4ENSG00000137634ENST00000375478p.T429Nc.1286C>ASubstitution - Missense
TTC12ENSG00000149292ENST00000529221p.M151Ic.453G>TSubstitution - Missense
ENST00000319106_v68p.G503Gc.1509A>GSubstitution - coding silent
ACRBPENSG00000111644ENST00000229243p.C60Sc.179G>CSubstitution - Missense
CALML6ENSG00000169885ENST00000307786p.M152Tc.455T>CSubstitution - Missense
INSCENSG00000188487ENST00000379554p.I46Ic.138C>ASubstitution - coding silent
NM_000696.2p.?c.520+4A>TUnknown
FCGR3BENSG00000162747ENST00000294800p.?c.578-10C>AUnknown
MKXENSG00000150051ENST00000375790p.K219Nc.657G>TSubstitution - Missense
SLC39A12ENSG00000148482ENST00000377369p.H439Nc.1315C>ASubstitution - Missense
SLC39A12ENSG00000148482ENST00000377374p.H439Nc.1315C>ASubstitution - Missense
ACSM1ENSG00000166743ENST00000307493p.Q327*c.979C>TSubstitution - Nonsense
THUMPD1ENSG00000066654ENST00000381337p.R116Ic.347G>TSubstitution - Missense
CFHR2ENSG00000080910ENST00000367415p.V60Mc.178G>ASubstitution - Missense
KLHDC7AENSG00000179023ENST00000400664p.Q276Qc.828G>ASubstitution - coding silent
TPRENSG00000047410ENST00000367478p.V2158Fc.6472G>TSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.R19Lc.56G>TSubstitution - Missense
GSTM4ENSG00000168765ENST00000369836p.Y116Cc.347A>GSubstitution - Missense
GNAT2ENSG00000134183ENST00000351050p.Q330Hc.990G>TSubstitution - Missense
GPSM2ENSG00000121957ENST00000406462p.D594Ec.1782T>GSubstitution - Missense
DEPDC7ENSG00000121690ENST00000311388p.L484Fc.1452G>TSubstitution - Missense
QSER1ENSG00000060749ENST00000399302p.P288Tc.862C>ASubstitution - Missense
DCDC1ENSG00000170959ENST00000452803p.?c.754+9G>TUnknown
CD81ENSG00000110651ENST00000263645p.D137Nc.409G>ASubstitution - Missense
NELL1ENSG00000165973ENST00000357134p.?c.335+5G>TUnknown
NAV2ENSG00000166833ENST00000360655p.P2099Pc.6297G>ASubstitution - coding silent
PRB1ENSG00000251655ENST00000500254p.R142Rc.424C>ASubstitution - coding silent
LGALS12ENSG00000133317ENST00000394618p.C82Rc.244T>CSubstitution - Missense
SLC29A3ENSG00000198246ENST00000373189p.G460Dc.1379G>ASubstitution - Missense
AIFM2ENSG00000042286ENST00000307864p.G117Sc.349G>ASubstitution - Missense
STOX1ENSG00000165730ENST00000399169p.T170Mc.509C>TSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.L172Ic.514C>ASubstitution - Missense
TXNDC11ENSG00000153066ENST00000283033p.T256Tc.768C>ASubstitution - coding silent
TXNDC11ENSG00000153066ENST00000356957p.T256Tc.768C>ASubstitution - coding silent
GSPT1ENSG00000103342ENST00000434724p.P424Tc.1270C>ASubstitution - Missense
ATF7IP2ENSG00000166669ENST00000396560p.F156Sc.467T>CSubstitution - Missense
AGBL4ENSG00000186094ENST00000371839p.M424Vc.1270A>GSubstitution - Missense
WDR76ENSG00000092470ENST00000263795p.L239Fc.717A>TSubstitution - Missense
RPAP3ENSG00000005175ENST00000005386p.E9Kc.25G>ASubstitution - Missense
C16orf89ENSG00000153446ENST00000350219p.S58Sc.174C>TSubstitution - coding silent
CFHR4ENSG00000134365ENST00000367416p.A555Vc.1664C>TSubstitution - Missense
BMP5ENSG00000112175ENST00000370830p.G293Rc.877G>ASubstitution - Missense
MKL1ENSG00000196588ENST00000355630p.P858Pc.2574G>ASubstitution - coding silent
BCAMENSG00000187244ENST00000270233p.A29Tc.85G>ASubstitution - Missense
IQCA1ENSG00000132321ENST00000409907p.D410Yc.1228G>TSubstitution - Missense
IQCA1ENSG00000132321ENST00000409907p.D410Yc.1228G>TSubstitution - Missense
ZNF560ENSG00000198028ENST00000301480p.R694Qc.2081G>ASubstitution - Missense
MAN2C1ENSG00000140400ENST00000267978p.H245Yc.733C>TSubstitution - Missense
MYL6ENSG00000092841ENST00000550697p.L52Mc.154C>ASubstitution - Missense
OR9K2ENSG00000170605ENST00000305377p.I232Ic.696C>ASubstitution - coding silent
MAP3K12ENSG00000139625ENST00000547035p.C379Cc.1137C>TSubstitution - coding silent
CTR9ENSG00000198730ENST00000361367p.?c.957+1G>AUnknown
FAT2ENSG00000086570ENST00000261800p.I1402Ic.4206C>TSubstitution - coding silent
ANO7ENSG00000146205ENST00000274979p.H87Hc.261C>TSubstitution - coding silent
SLIT1ENSG00000187122ENST00000266058p.A1298Dc.3893C>ASubstitution - Missense
TCTN3ENSG00000119977ENST00000265993p.Q159Qc.477G>ASubstitution - coding silent
TCTN3ENSG00000119977ENST00000265993p.Q159Qc.477G>ASubstitution - coding silent
CYP2C19ENSG00000165841ENST00000371321p.?c.642+1G>AUnknown
CCSER2ENSG00000107771ENST00000224756p.R426Ic.1277G>TSubstitution - Missense
TAF3ENSG00000165632ENST00000344293p.A380Sc.1138G>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.R737Cc.2209C>TSubstitution - Missense
VDAC2ENSG00000165637ENST00000332211p.V50Lc.148G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.C441Sc.1322G>CSubstitution - Missense
SU_OBSCN.1p.C441Sc.1322G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.C441Sc.1322G>CSubstitution - Missense
ENST00000426433p.?c.433-1G>TUnknown
ENST00000345581p.?c.334-1G>TUnknown
KIAA1462ENSG00000165757ENST00000375377p.P989Hc.2966C>ASubstitution - Missense
DCTENSG00000080166ENST00000446125p.I76Ic.228C>ASubstitution - coding silent
DCTENSG00000080166ENST00000377028p.I76Ic.228C>ASubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.Q3449Qc.10347A>GSubstitution - coding silent
PTPN11ENSG00000179295ENST00000351677p.?c.854-4C>AUnknown
TAS2R19ENSG00000212124ENST00000390673p.Q46*c.136C>TSubstitution - Nonsense
TRPV4ENSG00000111199ENST00000261740p.G279Gc.837G>TSubstitution - coding silent
ENSG00000180574ENST00000322446p.G334Gc.1002C>TSubstitution - coding silent
SIPA1L2ENSG00000116991ENST00000366630p.L1654Lc.4962G>TSubstitution - coding silent
PPFIA2ENSG00000139220ENST00000549396p.R1253Hc.3758G>ASubstitution - Missense
SYT1ENSG00000067715ENST00000393240p.K301Nc.903G>TSubstitution - Missense
ZDHHC17ENSG00000186908ENST00000426126p.W544*c.1631G>ASubstitution - Nonsense
SCNN1AENSG00000111319ENST00000228916p.V75Lc.223G>TSubstitution - Missense
B4GALNT1ENSG00000135454ENST00000341156p.V309Vc.927C>ASubstitution - coding silent
OR10J3ENSG00000196266ENST00000332217p.S310Yc.929C>ASubstitution - Missense
NTRK1ENSG00000198400ENST00000524377p.V282Ic.844G>ASubstitution - Missense
NTRK1ENSG00000198400ENST00000392302p.V252Ic.754G>ASubstitution - Missense
MEF2DENSG00000116604ENST00000348159p.M29Ic.87G>TSubstitution - Missense
RHBGENSG00000132677ENST00000451864p.G331Cc.991G>TSubstitution - Missense
ART5ENSG00000167311ENST00000397068p.?c.787+10G>AUnknown
KIRREL3ENSG00000149571ENST00000525144p.A587Ac.1761C>TSubstitution - coding silent
OR8D1ENSG00000196341ENST00000357821p.I135Ic.405C>ASubstitution - coding silent
CRTAC1ENSG00000095713ENST00000370597p.R436Wc.1306C>TSubstitution - Missense
MARK3ENSG00000075413ENST00000216288p.E344*c.1030G>TSubstitution - Nonsense
TUBGCP2ENSG00000130640ENST00000252936p.D369fs*37c.1101_1102delAGDeletion - Frameshift
CYB5R2ENSG00000166394ENST00000299498p.?c.388+10G>AUnknown
STARD10ENSG00000214530ENST00000334805p.G18Gc.54C>ASubstitution - coding silent
NTRK3ENSG00000140538ENST00000317501p.S296Ic.887G>TSubstitution - Missense
IL16ENSG00000172349ENST00000302987p.C1011Yc.3032G>ASubstitution - Missense
NM_172217.1p.C965Yc.2894G>ASubstitution - Missense
KRT82ENSG00000161850ENST00000257974p.G506Ac.1517G>CSubstitution - Missense
KRT82ENSG00000161850ENST00000257974p.G79Rc.235G>ASubstitution - Missense
ASIC1ENSG00000110881ENST00000228468p.E427*c.1279G>TSubstitution - Nonsense
KMT2DENSG00000167548ENST00000301067p.P4944Tc.14830C>ASubstitution - Missense
EPS8ENSG00000151491ENST00000281172p.R77Rc.229C>ASubstitution - coding silent


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID