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BALL-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

848 mutations reported
324 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
PRRC2BENSG00000130723ENST00000357304p.R1269Wc.3805C>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.V793Ic.2377G>ASubstitution - Missense
PDLIM4ENSG00000131435ENST00000253754p.C284Cc.852C>TSubstitution - coding silent
TMEM163ENSG00000152128ENST00000281924p.A116Tc.346G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.L428Lc.1284C>TSubstitution - coding silent
SCAF4ENSG00000156304ENST00000286835p.T815Tc.2445G>ASubstitution - coding silent
NID1ENSG00000116962ENST00000264187p.G467Rc.1399G>ASubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.T338Kc.1013C>ASubstitution - Missense
NR0B2ENSG00000131910ENST00000254227p.R216Hc.647G>ASubstitution - Missense
TP63ENSG00000073282ENST00000264731p.F177Fc.531C>TSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.E1842Kc.5524G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.F2149Lc.6447C>ASubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.R1203Wc.3607C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.A3624Ac.10872T>CSubstitution - coding silent
CYLDENSG00000083799ENST00000311559p.L773Lc.2319G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.D281Gc.842A>GSubstitution - Missense
ENSG00000258465ENST00000556710p.P642Rc.1925C>GSubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.I256Ic.768C>ASubstitution - coding silent
RNF19BENSG00000116514ENST00000373456p.G169Gc.507G>ASubstitution - coding silent
CROCCENSG00000058453ENST00000375541p.R1725Rc.5175G>ASubstitution - coding silent
CROCCENSG00000058453ENST00000375541p.?c.197-8C>TUnknown
SOHLH2ENSG00000120669ENST00000379881p.K18Ec.52A>GSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.L1692*c.5075T>GSubstitution - Nonsense
UTP20ENSG00000120800ENST00000261637p.P2055Sc.6163C>TSubstitution - Missense
MTMR2ENSG00000087053ENST00000346299p.R233Rc.699A>GSubstitution - coding silent
SFR1ENSG00000156384ENST00000369729p.V163Vc.489C>GSubstitution - coding silent
HIF1ANENSG00000166135ENST00000299163p.N110Dc.328A>GSubstitution - Missense
KIAA1598ENSG00000187164ENST00000392903p.A637Tc.1909G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.A1094_A1095ins11c.3263_3264ins33Insertion - In frame
FMN2ENSG00000155816ENST00000319653p.P1297Lc.3890C>TSubstitution - Missense
ZIC5ENSG00000139800ENST00000267294p.K489Nc.1467G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.?c.6555+3A>GUnknown
ENST00000432996p.S781Ic.2342G>TSubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.Y1309Hc.3925T>CSubstitution - Missense
MRPL17ENSG00000158042ENST00000288937p.E57Ec.171G>ASubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.G342Gc.1026C>TSubstitution - coding silent
ADCY4ENSG00000129467ENST00000310677p.K267Kc.801G>ASubstitution - coding silent
ADCY4ENSG00000129467ENST00000310677p.Y265*c.795T>ASubstitution - Nonsense
ACIN1ENSG00000100813ENST00000262710p.E782Gc.2345A>GSubstitution - Missense
ACIN1ENSG00000100813ENST00000338631p.E55Gc.164A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.V2909Vc.8727G>CSubstitution - coding silent
ENST00000368577p.P851Sc.2551C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.G2567Gc.7701C>TSubstitution - coding silent
CAPN5ENSG00000149260ENST00000278559p.?c.894-5C>GUnknown
RELTENSG00000054967ENST00000064780p.L307Rc.920T>GSubstitution - Missense
FANCIENSG00000140525ENST00000310775p.L1141Lc.3423G>ASubstitution - coding silent
MESP1ENSG00000166823ENST00000300057p.T176Sc.526A>TSubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.S1127Rc.3381C>GSubstitution - Missense
SLC4A8ENSG00000050438ENST00000394856p.?c.605-9T>CUnknown
PIK3C2GENSG00000139144ENST00000433979p.K1010Mc.3029A>TSubstitution - Missense
PLCZ1ENSG00000139151ENST00000266505p.D241Vc.722A>TSubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.D469Yc.1405G>TSubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.D469Yc.1405G>TSubstitution - Missense
OR10J3ENSG00000196266ENST00000332217p.G85Sc.253G>ASubstitution - Missense
NTRK1ENSG00000198400ENST00000392302p.R518fs*104c.1552delCDeletion - Frameshift
IQGAP3ENSG00000183856ENST00000361170p.P55Lc.164C>TSubstitution - Missense
EXT2ENSG00000151348ENST00000533608p.P67Pc.201G>ASubstitution - coding silent
SLC37A2ENSG00000134955ENST00000308074p.V412Vc.1236C>ASubstitution - coding silent
TLL2ENSG00000095587ENST00000357947p.S382Sc.1146G>ASubstitution - coding silent
NUTM2BENSG00000188199ENST00000429828p.L709Lc.2125C>TSubstitution - coding silent
SU_OBSCN.1p.R968Qc.2903G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.R968Qc.2903G>ASubstitution - Missense
SU_OBSCN.1p.P2014Qc.6041C>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.P2297Qc.6890C>ASubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.N1664Nc.4992T>CSubstitution - coding silent
GPC5ENSG00000179399ENST00000377067p.G280Dc.839G>ASubstitution - Missense
SSH1ENSG00000084112ENST00000326470p.?c.143+5G>AUnknown
MVKENSG00000110921ENST00000228510p.G376Gc.1128C>TSubstitution - coding silent
GPALPP1ENSG00000133114ENST00000379151p.R303Hc.908G>ASubstitution - Missense
CPB2ENSG00000080618ENST00000181383p.S381Sc.1143G>CSubstitution - coding silent
KRT79ENSG00000185640ENST00000330553p.V255Lc.763G>TSubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.E1003Dc.3009G>TSubstitution - Missense
SLC43A1ENSG00000149150ENST00000278426p.T4Rc.11C>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.D281Gc.842A>GSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.R938Rc.2814C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.P607Pc.1821C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.P1153Lc.3458C>TSubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.R1360Wc.4078C>TSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.P66Lc.197C>TSubstitution - Missense
ACER1ENSG00000167769ENST00000301452p.?c.209-7G>AUnknown
BCORL1ENSG00000085185ENST00000218147p.P1000Pc.3000C>TSubstitution - coding silent
AIFM1ENSG00000156709ENST00000287295p.M88Vc.262A>GSubstitution - Missense
AIFM1ENSG00000156709ENST00000319908p.M84Vc.250A>GSubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.L428Lc.1284C>TSubstitution - coding silent
BARD1ENSG00000138376ENST00000260947p.R294Rc.882G>ASubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.P878Sc.2632C>TSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.P878Sc.2632C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L4123Qc.12368T>ASubstitution - Missense
PSMB6ENSG00000142507ENST00000270586p.P238Hc.713C>ASubstitution - Missense
LRRC37A2ENSG00000238083ENST00000333412p.N1229Sc.3686A>GSubstitution - Missense
PLEKHM1ENSG00000225190ENST00000430334p.R716Sc.2148G>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.R235Lc.704G>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.R235Lc.704G>TSubstitution - Missense
ARHGAP11AENSG00000198826ENST00000361627p.A612Tc.1834G>ASubstitution - Missense
NM_014363.3p.A4277Pc.12829G>CSubstitution - Missense
GRTP1ENSG00000139835ENST00000375430p.R221Rc.663T>CSubstitution - coding silent
CYP46A1ENSG00000036530ENST00000261835p.E270Kc.808G>ASubstitution - Missense
GLMNENSG00000174842ENST00000370360p.Q445*c.1333C>TSubstitution - Nonsense
CCBL2ENSG00000137944ENST00000370491p.?c.201+4A>GUnknown
ATXN3ENSG00000066427ENST00000393287p.Q305_G306ins11c.884_885ins33Insertion - In frame
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQQQQc.884_885ins24Insertion - In frame
GPR135ENSG00000181619ENST00000395116p.V314Mc.940G>ASubstitution - Missense
NM_006255p.?c.1573-3C>TUnknown
LPHN2ENSG00000117114ENST00000359929p.V1078Ac.3233T>CSubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.R1173Cc.3517C>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.R87Qc.260G>ASubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.R87Qc.260G>ASubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.P828Pc.2484C>TSubstitution - coding silent
CDKN1BENSG00000111276ENST00000228872p.A115Ac.345G>ASubstitution - coding silent
KNTC1ENSG00000184445ENST00000333479p.Q1725Lc.5174A>TSubstitution - Missense
MAPK6ENSG00000069956ENST00000261845p.L697Lc.2089T>CSubstitution - coding silent
PIK3C2BENSG00000133056ENST00000367187p.A29Ac.87C>TSubstitution - coding silent
NM_032105.1p.E3fs*5c.6delGDeletion - Frameshift
RHPN2ENSG00000131941ENST00000400226p.H265Hc.795C>TSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000389698p.I1192Vc.3574A>GSubstitution - Missense
C15orf43ENSG00000167014ENST00000340827p.M210Tc.629T>CSubstitution - Missense
SLC24A5ENSG00000188467ENST00000341459p.?c.590+4A>GUnknown
DUSP27ENSG00000198842ENST00000361200p.V191Mc.571G>ASubstitution - Missense
TCHHENSG00000159450ENST00000368804p.E132delEc.394_396delGAADeletion - In frame
HIST2H2BFENSG00000203814ENST00000369167p.K31Kc.93G>ASubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.V1275Vc.3825T>CSubstitution - coding silent
DNALI1ENSG00000163879ENST00000296218p.S244Nc.731G>ASubstitution - Missense
VPS51ENSG00000149823ENST00000279281p.E548Ec.1644A>GSubstitution - coding silent
ENST00000426033p.E2158Kc.6472G>ASubstitution - Missense
ZNF410ENSG00000119725ENST00000555044p.S435Sc.1305T>GSubstitution - coding silent
MALRD1ENSG00000204740ENST00000454679p.T756fs*46c.2263delCDeletion - Frameshift
NM_020824.2p.S73Pc.217T>CSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.L1221Vc.3661C>GSubstitution - Missense
TMC5ENSG00000103534ENST00000219821p.V391Ic.1171G>ASubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.R189Pc.566G>CSubstitution - Missense
SARSENSG00000031698ENST00000234677p.H319Pc.956A>CSubstitution - Missense
NBPF4ENSG00000196427ENST00000415641p.A592Ac.1776C>GSubstitution - coding silent
LAYNENSG00000204381ENST00000375614p.I250Ic.750C>TSubstitution - coding silent
C11orf21ENSG00000110665ENST00000456145p.T120fs*4c.355_356insCInsertion - Frameshift
TSPAN32ENSG00000064201ENST00000182290p.?c.902-3C>TUnknown
MSANTD4ENSG00000170903ENST00000301919p.E158Ec.474G>ASubstitution - coding silent
GRIP1ENSG00000155974ENST00000398016p.I475Ic.1425C>TSubstitution - coding silent
NM_002155.3p.P318Lc.953C>TSubstitution - Missense
UHMK1ENSG00000152332ENST00000489294p.D346Dc.1038T>CSubstitution - coding silent
RGS4ENSG00000117152ENST00000421743p.D140Ec.420C>ASubstitution - Missense
CD84ENSG00000066294ENST00000368054p.I111Vc.331A>GSubstitution - Missense
GOLGA8HENSG00000261794ENST00000566740p.S230Sc.690A>TSubstitution - coding silent
FAN1ENSG00000198690ENST00000362065p.L715Lc.2143T>CSubstitution - coding silent
DCCENSG00000187323ENST00000442544p.Q460Hc.1380A>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.R2971Hc.8912G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.L3548Fc.10642C>TSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.P1008Sc.3022C>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.A2063Tc.6187G>ASubstitution - Missense
SH2D4AENSG00000104611ENST00000265807p.?c.513+3G>AUnknown
ENST00000360191p.R160Cc.478C>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.V633Mc.1897G>ASubstitution - Missense
EEF1DENSG00000104529ENST00000442189p.A65Ac.195C>GSubstitution - coding silent
TFPI2ENSG00000105825ENST00000222543p.L212Lc.636G>ASubstitution - coding silent
COL1A2ENSG00000164692ENST00000297268p.H512Qc.1536T>GSubstitution - Missense
STEAP2ENSG00000157214ENST00000394621p.L295Lc.885G>ASubstitution - coding silent
STEAP2ENSG00000157214ENST00000394626p.L295Lc.885G>ASubstitution - coding silent
C7orf63ENSG00000105792ENST00000389297p.C545Gc.1633T>GSubstitution - Missense
C7orf63ENSG00000105792ENST00000316089p.C545Gc.1633T>GSubstitution - Missense
HIST1H2BAENSG00000146047ENST00000274764p.R74Hc.221G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.G2401Ac.7202G>CSubstitution - Missense
ENST00000273600p.G2401Ac.7202G>CSubstitution - Missense
ACY1ENSG00000243989ENST00000404366p.N179Nc.537T>CSubstitution - coding silent
ACY1ENSG00000243989ENST00000458031p.N269Nc.807T>CSubstitution - coding silent
NPRL2ENSG00000114388ENST00000232501p.V232Ic.694G>ASubstitution - Missense
NIPAL1ENSG00000163293ENST00000295461p.I226Tc.677T>CSubstitution - Missense
OTOP1ENSG00000163982ENST00000296358p.?c.404-4T>CUnknown
DYRK1AENSG00000157540ENST00000398960p.Y705Cc.2114A>GSubstitution - Missense
KRT40ENSG00000204889ENST00000398486p.L292Pc.875T>CSubstitution - Missense
FTOENSG00000140718ENST00000471389p.L82Lc.246G>CSubstitution - coding silent
MT1EENSG00000169715ENST00000330439p.P100Tc.298C>ASubstitution - Missense
MT1EENSG00000169715ENST00000330439p.P100Lc.299C>TSubstitution - Missense
NM_032217.3p.V643Fc.1927G>TSubstitution - Missense
PPP4R2ENSG00000163605ENST00000356692p.D304_E307delDEEEc.891_902del12Deletion - In frame
ANKRD36CENSG00000174501ENST00000456556p.K1564Rc.4691A>GSubstitution - Missense
ENST00000420871_v68p.K815Rc.2444A>GSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.P784Pc.2352C>TSubstitution - coding silent
C2CD2ENSG00000157617ENST00000380486p.L320Mc.958T>ASubstitution - Missense
ILF3ENSG00000129351ENST00000407004p.?c.1687-5T>AUnknown
PIK3C3ENSG00000078142ENST00000262039p.S851Sc.2553G>ASubstitution - coding silent
AZI1ENSG00000141577ENST00000450824p.N127Nc.381C>TSubstitution - coding silent
AZI1ENSG00000141577ENST00000374782p.N127Nc.381C>TSubstitution - coding silent
ENST00000411702p.T4033Ac.12097A>GSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.P269Rc.806C>GSubstitution - Missense
CEP112ENSG00000154240ENST00000392769p.?c.1074+1G>AUnknown
APOHENSG00000091583ENST00000205948p.?c.982+7C>AUnknown
NUGGCENSG00000189233ENST00000413272p.P792Tc.2374C>ASubstitution - Missense
NUGGCENSG00000189233ENST00000341513p.P792Tc.2374C>ASubstitution - Missense
LZTS1ENSG00000061337ENST00000381569p.T214Sc.641C>GSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.I802Vc.2404A>GSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.N542Nc.1626T>CSubstitution - coding silent
KDM4CENSG00000107077ENST00000381306p.A435Gc.1304C>GSubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.G25Gc.75T>CSubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.S398Rc.1192A>CSubstitution - Missense
POT1ENSG00000128513ENST00000357628p.V326Ac.977T>CSubstitution - Missense
SRCENSG00000197122ENST00000445403p.T183Mc.548C>TSubstitution - Missense
ITCHENSG00000078747ENST00000374864p.D181Hc.541G>CSubstitution - Missense
MADCAM1ENSG00000099866ENST00000215637p.P356Tc.1066C>ASubstitution - Missense
ENST00000428290_v65p.F13Fc.39C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.R280Rc.838A>CSubstitution - coding silent
RAI1ENSG00000108557ENST00000353383p.S378Tc.1133G>CSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.R3247Cc.9739C>TSubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.K1215Tc.3644A>CSubstitution - Missense
KCNE1LENSG00000176076ENST00000372101p.Y81Hc.241T>CSubstitution - Missense
XM_042978.4p.V1431Vc.4293C>ASubstitution - coding silent
FRMPD3ENSG00000147234ENST00000276185p.V1382Vc.4146C>ASubstitution - coding silent
ZNF510ENSG00000081386ENST00000375231p.K514fs*33c.1533_1534delAGDeletion - Frameshift
MYO1FENSG00000142347ENST00000338257p.S459Sc.1377C>TSubstitution - coding silent
MTRRENSG00000124275ENST00000264668p.P473Hc.1418C>ASubstitution - Missense
ENST00000274361_v65p.D403Ec.1209T>ASubstitution - Missense
ENST00000274361_v65p.S90Sc.270C>TSubstitution - coding silent
CD180ENSG00000134061ENST00000256447p.G312Gc.936G>ASubstitution - coding silent
MCCC2ENSG00000131844ENST00000340941p.?c.511+7_511+8insCUnknown
CELSR3ENSG00000008300ENST00000164024p.R1863Qc.5588G>ASubstitution - Missense
NM_014911p.P390Tc.1168C>ASubstitution - Missense
ACKR3ENSG00000144476ENST00000272928p.T74Ic.221C>TSubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.K63Rc.188A>GSubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.I426Lc.1276A>TSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.I419Lc.1255A>TSubstitution - Missense
TMEM37ENSG00000171227ENST00000306406p.R92Cc.274C>TSubstitution - Missense
ACOT9ENSG00000123130ENST00000336430p.?c.562-10T>GUnknown
PCLOENSG00000186472ENST00000333891p.I2784Tc.8351T>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.I2784Tc.8351T>CSubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.N295Nc.885C>TSubstitution - coding silent
KIAA1244ENSG00000112379ENST00000251691p.M1884Lc.5650A>TSubstitution - Missense
NM_020340.2p.M1813Lc.5437A>TSubstitution - Missense
ELF2ENSG00000109381ENST00000394235p.?c.578-1G>TUnknown
RETSATENSG00000042445ENST00000295802p.?c.1533+5G>CUnknown
LCATENSG00000213398ENST00000264005p.M73Ic.219G>ASubstitution - Missense
VAX2ENSG00000116035ENST00000234392p.R106Cc.316C>TSubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.F175Fc.525C>TSubstitution - coding silent
UNC5CENSG00000182168ENST00000453304p.Q627Rc.1880A>GSubstitution - Missense
KIF19ENSG00000196169ENST00000389916p.V69Lc.205G>CSubstitution - Missense
ZNF549ENSG00000121406ENST00000376233p.E554Kc.1660G>ASubstitution - Missense
ZSCAN18ENSG00000121413ENST00000240727p.R75delRc.224_226delGCCDeletion - In frame
ZNF470ENSG00000197016ENST00000330619p.A522Sc.1564G>TSubstitution - Missense
NM_006904p.F910Fc.2730C>TSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.F910Fc.2730C>TSubstitution - coding silent
TACC1ENSG00000147526ENST00000317827p.S460Lc.1379C>TSubstitution - Missense
ADAM9ENSG00000168615ENST00000487273p.S530Pc.1588T>CSubstitution - Missense
WRNENSG00000165392ENST00000298139p.H400Pc.1199A>CSubstitution - Missense
PRRT3ENSG00000163704ENST00000295984p.L558fs*26c.1671delGDeletion - Frameshift
FGFRL1ENSG00000127418ENST00000398484p.D181Nc.541G>ASubstitution - Missense
LHFPL4ENSG00000156959ENST00000287585p.T123Tc.369G>ASubstitution - coding silent
CRYBG3ENSG00000080200ENST00000182096p.K246Tc.737A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1517Hc.4551C>TSubstitution - coding silent
TFRCENSG00000072274ENST00000360110p.T104Ac.310A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2121Vc.6361T>GSubstitution - Missense
ENST00000405167p.R2540Cc.7618C>TSubstitution - Missense
CAPN13ENSG00000162949ENST00000295055p.F538Lc.1614C>ASubstitution - Missense
HAO1ENSG00000101323ENST00000378789p.Q180Kc.538C>ASubstitution - Missense
TPTEENSG00000166157ENST00000361285p.N405Nc.1215C>TSubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.?c.9361-5C>TUnknown
NLRP12ENSG00000142405ENST00000345770p.C413Rc.1237T>CSubstitution - Missense
ZNF611ENSG00000213020ENST00000319783p.S197Sc.591C>ASubstitution - coding silent
FANCAENSG00000187741ENST00000389301p.R350Qc.1049G>ASubstitution - Missense
ACSF3ENSG00000176715ENST00000317447p.W259Sc.776G>CSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.I1195Ic.3585T>CSubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.I1195delIc.3583_3585delATTDeletion - In frame
ITGAXENSG00000140678ENST00000268296p.S464Sc.1392C>TSubstitution - coding silent
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.D37Dc.111C>TSubstitution - coding silent
NIF3L1ENSG00000196290ENST00000409020p.P126Tc.376C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.G18644Gc.55932C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.G12272Gc.36816C>TSubstitution - coding silent
ENST00000356127p.G18642Gc.55926C>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000262719p.E1513Dc.4539G>CSubstitution - Missense
ENST00000262719_v68p.E1513Dc.4539G>CSubstitution - Missense
SERPINB13ENSG00000197641ENST00000344731p.F164Sc.491T>CSubstitution - Missense
CTC1ENSG00000178971ENST00000315684p.L63Lc.189C>GSubstitution - coding silent
ALPK2ENSG00000198796ENST00000361673p.T875Mc.2624C>TSubstitution - Missense
NM_052947p.T241Mc.722C>TSubstitution - Missense
EGR1ENSG00000120738ENST00000239938p.V342Vc.1026G>ASubstitution - coding silent
BCKDHAENSG00000248098ENST00000269980p.R12Pc.35G>CSubstitution - Missense
ADCK4ENSG00000123815ENST00000324464p.?c.289+6T>CUnknown
ADCK4ENSG00000123815ENST00000324464p.?c.289+6T>CUnknown
LGALS13ENSG00000105198ENST00000221797p.N139Nc.417T>CSubstitution - coding silent
VPS13AENSG00000197969ENST00000360280p.P974Pc.2922C>TSubstitution - coding silent
TRPM6ENSG00000119121ENST00000451710p.L273Lc.819C>GSubstitution - coding silent
TRPM6ENSG00000119121ENST00000360774p.L273Lc.819C>GSubstitution - coding silent
PPP1R26ENSG00000196422ENST00000356818p.M434Ic.1302G>ASubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.?c.1984-6C>TUnknown
TTF1ENSG00000125482ENST00000334270p.L709Lc.2127A>GSubstitution - coding silent
AFAP1L1ENSG00000157510ENST00000296721p.S497*c.1490C>ASubstitution - Nonsense
NLGN1ENSG00000169760ENST00000457714p.T565Tc.1695C>GSubstitution - coding silent
PIP5K1CENSG00000186111ENST00000335312p.G337Gc.1011C>TSubstitution - coding silent
BRCA1ENSG00000012048ENST00000357654p.Y1769Cc.5306A>GSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.L619Lc.1855C>TSubstitution - coding silent
METTL3ENSG00000165819ENST00000377543p.D452Nc.1354G>ASubstitution - Missense
HNRNPLLENSG00000143889ENST00000409636p.G52_R53insGc.141_142insGGCInsertion - In frame
NF1ENSG00000196712ENST00000358273p.Q1188Qc.3564A>GSubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.Q1188Qc.3564A>GSubstitution - coding silent
BCLAF1ENSG00000029363ENST00000531224p.K912fs*>9c.2733delGDeletion - Frameshift
USP17L2ENSG00000223443ENST00000333796p.L136Hc.407T>ASubstitution - Missense
ATAD2ENSG00000156802ENST00000287394p.P1322Sc.3964C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.?c.3311-2A>GUnknown
COL19A1ENSG00000082293ENST00000322773p.P324Rc.971C>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.?c.8740-1G>TUnknown
DSTENSG00000151914ENST00000370769p.?c.15982-1G>TUnknown
AIM1ENSG00000112297ENST00000369066p.E56Qc.166G>CSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.V591Ic.1771G>ASubstitution - Missense
CARD10ENSG00000100065ENST00000403299p.G905Rc.2713G>CSubstitution - Missense
MBPENSG00000197971ENST00000355994p.P235Lc.704C>TSubstitution - Missense
ENST00000217537p.S913Sc.2739C>TSubstitution - coding silent
CDH7ENSG00000081138ENST00000323011p.?c.505+7A>GUnknown
CDH7ENSG00000081138ENST00000323011p.?c.1613-4C>GUnknown
RTTNENSG00000176225ENST00000255674p.Q1039Qc.3117A>GSubstitution - coding silent
RAD50ENSG00000113522ENST00000265335p.N305Nc.915T>CSubstitution - coding silent
NM_133482.1p.N166Nc.498T>CSubstitution - coding silent
SNCAIPENSG00000064692ENST00000261368p.S193Cc.578C>GSubstitution - Missense
SNCAIPENSG00000064692ENST00000379533p.S240Cc.719C>GSubstitution - Missense
SNCAIPENSG00000064692ENST00000503116p.S240Cc.719C>GSubstitution - Missense
ENPP6ENSG00000164303ENST00000296741p.A369Ac.1107C>TSubstitution - coding silent
MND1ENSG00000121211ENST00000240488p.D205Nc.613G>ASubstitution - Missense
LSM3ENSG00000170860ENST00000306024p.?c.21+2T>GUnknown
CLDN9ENSG00000213937ENST00000445369p.P186Tc.556C>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000322610p.P184Pc.552C>TSubstitution - coding silent
SH2B1ENSG00000178188ENST00000337120p.P184Pc.552C>TSubstitution - coding silent
KIAA0556ENSG00000047578ENST00000261588p.I1431Tc.4292T>CSubstitution - Missense
GRWD1ENSG00000105447ENST00000253237p.?c.682+9C>GUnknown
MARK4ENSG00000007047ENST00000300843p.P439Pc.1317G>ASubstitution - coding silent
MKNK2ENSG00000099875ENST00000250896p.E129Ec.387G>ASubstitution - coding silent
IZUMO4ENSG00000099840ENST00000395301p.S124Nc.371G>ASubstitution - Missense
ENST00000300960p.S124Nc.371G>ASubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.V1053Mc.3157G>ASubstitution - Missense
ATRXENSG00000085224ENST00000373344p.M2446Lc.7336A>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.N228_L229>Kc.684_686delCTTComplex - deletion inframe
MAP1SENSG00000130479ENST00000324096p.S918Sc.2754C>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.G391Sc.1171G>ASubstitution - Missense
MED12ENSG00000184634ENST00000374080p.G391Sc.1171G>ASubstitution - Missense
PSIP1ENSG00000164985ENST00000380733p.T47Ac.139A>GSubstitution - Missense
PSIP1ENSG00000164985ENST00000380716p.T47Ac.139A>GSubstitution - Missense
PSIP1ENSG00000164985ENST00000380715p.T47Ac.139A>GSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.G685Sc.2053G>ASubstitution - Missense
IFNA4ENSG00000236637ENST00000421715p.L112Ic.334C>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.G691Gc.2073C>TSubstitution - coding silent
ENST00000263817_v70p.I1078Tc.3233T>CSubstitution - Missense
BCAS1ENSG00000064787ENST00000371440p.T270Sc.809C>GSubstitution - Missense
MEX3DENSG00000181588ENST00000388824p.T346Pc.1036A>CSubstitution - Missense
ILF3ENSG00000129351ENST00000420083p.?c.1675-5T>AUnknown
TP53ENSG00000141510ENST00000420246p.D281Gc.842A>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R280Rc.838A>CSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.R807Rc.2421A>GSubstitution - coding silent
RAI1ENSG00000108557ENST00000261641p.S378Tc.1133G>CSubstitution - Missense
HAP1ENSG00000173805ENST00000310778p.D339Nc.1015G>ASubstitution - Missense
RHBDL1ENSG00000103269ENST00000352681p.V355Ic.1063G>ASubstitution - Missense
GOLGA8RENSG00000186399ENST00000544495p.T131Tc.393G>ASubstitution - coding silent
SERINC4ENSG00000184716ENST00000319327p.G397Gc.1191G>ASubstitution - coding silent
LPHN2ENSG00000117114ENST00000370715p.V1078Ac.3233T>CSubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.P442Pc.1326C>TSubstitution - coding silent
MIA3ENSG00000154305ENST00000340535p.N542Nc.1626T>CSubstitution - coding silent
ENST00000360056p.I111Vc.331A>GSubstitution - Missense
ENST00000368047p.I111Vc.331A>GSubstitution - Missense
WDR47ENSG00000085433ENST00000400794p.P417Lc.1250C>TSubstitution - Missense
SARSENSG00000031698ENST00000369923p.H319Pc.956A>CSubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.I1310Vc.3928A>GSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.D336Nc.1006G>ASubstitution - Missense
GRIP1ENSG00000155974ENST00000359742p.I527Ic.1581C>TSubstitution - coding silent
ENST00000266505_v70p.D241Vc.722A>TSubstitution - Missense
SMTNL1ENSG00000214872ENST00000457912p.Y413Yc.1239C>TSubstitution - coding silent
LAYNENSG00000204381ENST00000375615p.I258Ic.774C>TSubstitution - coding silent
RUFY2ENSG00000204130ENST00000399200p.A349Ac.1047C>TSubstitution - coding silent
SFR1ENSG00000156384ENST00000336358p.V238Vc.714C>GSubstitution - coding silent
ITPKBENSG00000143772ENST00000366784p.P167Lc.500C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.V482Mc.1444G>ASubstitution - Missense
FAM86B1ENSG00000186523ENST00000431227p.?c.742+3A>TUnknown
PKHD1ENSG00000170927ENST00000371117p.K2463Qc.7387A>CSubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.G387Gc.1161C>GSubstitution - coding silent
HLA-DPA1ENSG00000231389ENST00000419277p.W209*c.626G>ASubstitution - Nonsense
NM_197941.1p.P69Pc.207C>TSubstitution - coding silent
SFXN1ENSG00000164466ENST00000321442p.L257Fc.771G>TSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.V511Fc.1531G>TSubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.I637Lc.1909A>CSubstitution - Missense
TRA2BENSG00000136527ENST00000453386p.H107fs*9c.318_319insTInsertion - Frameshift
QRFPENSG00000188710ENST00000343079p.G94Dc.281G>ASubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.R1251Qc.3752G>ASubstitution - Missense
MTSS1ENSG00000170873ENST00000518547p.R428Hc.1283G>ASubstitution - Missense
ABCB11ENSG00000073734ENST00000263817p.I1078Tc.3233T>CSubstitution - Missense
UPB1ENSG00000100024ENST00000326010p.A43Tc.127G>ASubstitution - Missense
ENST00000426507p.A43Tc.127G>ASubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.L309Hc.926T>ASubstitution - Missense
KDRENSG00000128052ENST00000263923p.T689Tc.2067G>ASubstitution - coding silent
CEP135ENSG00000174799ENST00000257287p.Q740Hc.2220G>TSubstitution - Missense
EVCENSG00000072840ENST00000264956p.S158Sc.474C>TSubstitution - coding silent
CCDC148ENSG00000153237ENST00000283233p.M54Ic.162G>TSubstitution - Missense
TMEM145ENSG00000167619ENST00000301204p.L490fs*>5c.1463_1464insCInsertion - Frameshift
ENST00000319396p.S1663Sc.4989C>TSubstitution - coding silent
REEP6ENSG00000115255ENST00000233596p.?c.518-4G>TUnknown
REEP6ENSG00000115255ENST00000395484p.?c.720-4G>TUnknown
CCNFENSG00000162063ENST00000397066p.?c.777+9C>TUnknown
PKD1ENSG00000008710ENST00000262304p.S2367Fc.7100C>TSubstitution - Missense
VWA3AENSG00000175267ENST00000389398p.L236Lc.708C>GSubstitution - coding silent
ENST00000532298_v68p.L82Pc.245T>CSubstitution - Missense
ENST00000325845p.L67Pc.200T>CSubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.R1119Hc.3356G>ASubstitution - Missense
VARS2ENSG00000137411ENST00000321897p.V727fs*32c.2179_2185delGTTCAGGDeletion - Frameshift
PRSS16ENSG00000112812ENST00000230582p.L440Lc.1318C>TSubstitution - coding silent
ZSCAN31ENSG00000235109ENST00000439158p.G319Rc.955G>CSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529859p.N402Nc.1206T>CSubstitution - coding silent
ANKHD1ENSG00000131503ENST00000297183p.?c.7027+3A>GUnknown
ENST00000405167p.H1005Dc.3013C>GSubstitution - Missense
ENST00000405167p.G1004Gc.3012T>GSubstitution - coding silent
TBX1ENSG00000184058ENST00000329705p.D395Dc.1185C>TSubstitution - coding silent
MICU3ENSG00000155970ENST00000318063p.R148Lc.443G>TSubstitution - Missense
ENST00000540262p.S293Gc.877A>GSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.D653Nc.1957G>ASubstitution - Missense
PLECENSG00000178209ENST00000345136p.V496Mc.1486G>ASubstitution - Missense
RRP1ENSG00000160214ENST00000497547p.?c.360+10C>TUnknown
ERC2ENSG00000187672ENST00000288221p.I802Vc.2404A>GSubstitution - Missense
CSGALNACT1ENSG00000147408ENST00000332246p.E84Ec.252G>ASubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.F13Fc.39C>TSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.A4424Pc.13270G>CSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000344859p.R87Qc.260G>ASubstitution - Missense
C11orf21ENSG00000110665ENST00000456145p.T120fs*4c.355_356insCInsertion - Frameshift
BAG5ENSG00000166170ENST00000299204p.A431Vc.1292C>TSubstitution - Missense
DIP2BENSG00000066084ENST00000301180p.R1348Wc.4042A>TSubstitution - Missense
GPRIN2ENSG00000204175ENST00000374317p.G395Rc.1183G>ASubstitution - Missense
ZNF322ENSG00000181315ENST00000415922p.N51Tc.152A>CSubstitution - Missense
CYP3A5ENSG00000106258ENST00000343703p.L443Vc.1327C>GSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.I2784Tc.8351T>CSubstitution - Missense
ENST00000378024_v70p.G342Gc.1026C>TSubstitution - coding silent
IZUMO4ENSG00000099840ENST00000395307p.S171Nc.512G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.?c.6549+3A>GUnknown
RBM33ENSG00000184863ENST00000401878p.R1078Rc.3234G>ASubstitution - coding silent
SMOXENSG00000088826ENST00000278795p.R26Hc.77G>ASubstitution - Missense
AOAHENSG00000136250ENST00000258749p.G235Vc.704G>TSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.T987Tc.2961T>GSubstitution - coding silent
ARHGAP33ENSG00000004777ENST00000314737p.?c.189+9G>CUnknown
C17orf104ENSG00000180336ENST00000409122p.Q945*c.2833C>TSubstitution - Nonsense
CDH7ENSG00000081138ENST00000323011p.?c.505+7A>GUnknown
ENST00000405167p.H1517Hc.4551C>TSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.T490Pc.1468A>CSubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.P495Lc.1484C>TSubstitution - Missense
DNAH12ENSG00000174844ENST00000351747p.Y81Cc.242A>GSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.P269Rc.806C>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.F13Fc.39C>TSubstitution - coding silent
GPCPD1ENSG00000125772ENST00000379019p.V174Vc.522A>GSubstitution - coding silent
NM_012216.2p.R233Cc.697C>TSubstitution - Missense
C8orf22ENSG00000168333ENST00000399653p.E63Vc.188A>TSubstitution - Missense
ENST00000599516p.G38Gc.114C>TSubstitution - coding silent
C11orf16ENSG00000176029ENST00000326053p.D82Dc.246T>CSubstitution - coding silent
AENENSG00000181026ENST00000332810p.L106Fc.318G>TSubstitution - Missense
BAG5ENSG00000166170ENST00000337322p.A472Vc.1415C>TSubstitution - Missense
SLC2A14ENSG00000173262ENST00000396589p.A57Tc.169G>ASubstitution - Missense
TARBP1ENSG00000059588ENST00000040877p.?c.1029+8T>AUnknown
OBSCNENSG00000154358ENST00000284548p.V6350Lc.19048G>CSubstitution - Missense
PRIMA1ENSG00000175785ENST00000393140p.G145Ec.434G>ASubstitution - Missense
NR0B1ENSG00000169297ENST00000453287p.A127Tc.379G>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.P1000Pc.3000C>TSubstitution - coding silent
TRPM6ENSG00000119121ENST00000449912p.L268Lc.804C>GSubstitution - coding silent
TRPM6ENSG00000119121ENST00000359047p.L273Lc.819C>GSubstitution - coding silent
ANAPC2ENSG00000176248ENST00000323927p.?c.118-7A>CUnknown
ZFHX4ENSG00000091656ENST00000050961p.S524Sc.1572C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.A2018Tc.6052G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.R2926Hc.8777G>ASubstitution - Missense
MYO6ENSG00000196586ENST00000369981p.R556*c.1666C>TSubstitution - Nonsense
TIAM2ENSG00000146426ENST00000456144p.T165Mc.494C>TSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529619p.N402Nc.1206T>CSubstitution - coding silent
ABCB6ENSG00000115657ENST00000265316p.W154fs*96c.459delCDeletion - Frameshift
HNRNPLLENSG00000143889ENST00000410076p.G52_R53insGc.141_142insGGCInsertion - In frame
ENST00000406302p.E3fs*5c.6delGDeletion - Frameshift
ATXN3ENSG00000066427ENST00000532032p.Q305_G306ins11c.884_885ins33Insertion - In frame
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQQQQc.884_885ins24Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQQQQc.863_864ins24Insertion - In frame
ITPKBENSG00000143772ENST00000429204p.P167Lc.500C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.D281Gc.842A>GSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.A831Sc.2491G>TSubstitution - Missense
ENST00000256007p.I1310Vc.3928A>GSubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.?c.1579+10C>GUnknown
QRFPENSG00000188710ENST00000343079p.D92Gc.275A>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.T1290Tc.3870C>TSubstitution - coding silent
OR2F2ENSG00000221910ENST00000408955p.T38Sc.112A>TSubstitution - Missense
ENST00000532298p.L82Pc.245T>CSubstitution - Missense
COPEENSG00000105669ENST00000262812p.A83Ac.249C>TSubstitution - coding silent
MKNK2ENSG00000099875ENST00000309340p.E129Ec.387G>ASubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.N228_L229>Kc.684_686delCTTComplex - deletion inframe
ACOT9ENSG00000123130ENST00000379303p.?c.589-10T>GUnknown
XM_051221.5p.K739Kc.2217G>ASubstitution - coding silent
PHLPP1ENSG00000081913ENST00000400316p.E1000Dc.3000G>CSubstitution - Missense
SU_NRBP2p.L347Lc.1039C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.T2057Ac.6169A>GSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.K815Rc.2444A>GSubstitution - Missense
UBALD2ENSG00000185262ENST00000327490p.A20Tc.58G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R280Rc.838A>CSubstitution - coding silent
CAMTA1ENSG00000171735ENST00000303635p.P1355Sc.4063C>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000307138p.I1192Vc.3574A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.H2331Yc.6991C>TSubstitution - Missense
PLCZ1ENSG00000139151ENST00000541695p.D104Vc.311A>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.V496Mc.1486G>ASubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.D140Dc.420C>TSubstitution - coding silent
PTPRN2ENSG00000155093ENST00000404321p.V787Mc.2359G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.P1223Pc.3669C>TSubstitution - coding silent
WNK4ENSG00000126562ENST00000246914p.L619Lc.1855C>TSubstitution - coding silent
GGA1ENSG00000100083ENST00000343632p.S245Nc.734G>ASubstitution - Missense
ENST00000405167p.L2121Vc.6361T>GSubstitution - Missense
PLECENSG00000178209ENST00000436759p.V523Mc.1567G>ASubstitution - Missense
ENST00000262719_v68p.E1505Dc.4515G>TSubstitution - Missense
SERPINB13ENSG00000197641ENST00000344731p.K21Ec.61A>GSubstitution - Missense
CAMKK1ENSG00000004660ENST00000158166p.S57delSc.170_172delGTADeletion - In frame
CREB3L2ENSG00000182158ENST00000330387p.?c.583+7C>GUnknown
ABCC11ENSG00000121270ENST00000356608p.I1012Tc.3035T>CSubstitution - Missense
XM_042698.6p.V531Dc.1592T>ASubstitution - Missense
CEP112ENSG00000154240ENST00000535342p.?c.1074+1G>AUnknown
PER1ENSG00000179094ENST00000317276p.D372Nc.1114G>ASubstitution - Missense
LRTM1ENSG00000144771ENST00000273286p.A314Vc.941C>TSubstitution - Missense
ESX1ENSG00000123576ENST00000372588p.P121Sc.361C>TSubstitution - Missense
ZNF726ENSG00000213967ENST00000322487p.E254Gc.761A>GSubstitution - Missense
CHRNEENSG00000108556ENST00000293780p.C458Cc.1374C>TSubstitution - coding silent
AMPD3ENSG00000133805ENST00000396554p.S145Sc.435C>TSubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.E132Ac.395A>CSubstitution - Missense
MTMR2ENSG00000087053ENST00000352297p.R161Rc.483A>GSubstitution - coding silent
OR4K15ENSG00000169488ENST00000305051p.I339Lc.1015A>CSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.M1444Tc.4331T>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.P2198Qc.6593C>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.R1269Wc.3805C>TSubstitution - Missense
TACC1ENSG00000147526ENST00000443286p.S476Lc.1427C>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.I1239Vc.3715A>GSubstitution - Missense
NM_002847.2p.V764Mc.2290G>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.?c.2733_2758-3>22Unknown
ZNF781ENSG00000196381ENST00000358582p.L20Lc.60A>TSubstitution - coding silent
ANKRD31ENSG00000145700ENST00000274361p.D403Ec.1209T>ASubstitution - Missense
ANKRD31ENSG00000145700ENST00000274361p.S90Sc.270C>TSubstitution - coding silent
SIDT1ENSG00000072858ENST00000264852p.A456Ac.1368G>TSubstitution - coding silent
NM_005689.1p.W154fs*96c.459delCDeletion - Frameshift
ADAMTS12ENSG00000151388ENST00000504830p.T703Ic.2108C>TSubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.F175Fc.525C>TSubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000433686p.R131delRc.392_394delGCCDeletion - In frame
NLRP12ENSG00000142405ENST00000324134p.C413Rc.1237T>CSubstitution - Missense
SLC4A8ENSG00000050438ENST00000358657p.?c.845-9T>CUnknown
PRR4ENSG00000111215ENST00000228811p.E130Kc.388G>ASubstitution - Missense
DCCENSG00000187323ENST00000412726p.Q308Hc.924A>CSubstitution - Missense
SIDT1ENSG00000072858ENST00000393830p.A456Ac.1368G>TSubstitution - coding silent
KIF1AENSG00000130294ENST00000498729p.?c.2582+2T>GUnknown
CDK11BENSG00000248333ENST00000317673p.?c.1573+10C>GUnknown
MBD3ENSG00000071655ENST00000156825p.D257Dc.771C>TSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.E69Ac.206A>CSubstitution - Missense
ANKHD1ENSG00000131503ENST00000360839p.?c.7027+3A>GUnknown
PKDCCENSG00000162878ENST00000401498p.P162Pc.486G>ASubstitution - coding silent
DDX46ENSG00000145833ENST00000354283p.?c.765+4T>CUnknown
ZFP42ENSG00000179059ENST00000326866p.C252Cc.756C>TSubstitution - coding silent
GRID2IPENSG00000215045ENST00000457091p.G691Gc.2073C>TSubstitution - coding silent
H1FOOENSG00000178804ENST00000324382p.S8Sc.24C>TSubstitution - coding silent
RBBP7ENSG00000102054ENST00000380087p.A358Vc.1073C>TSubstitution - Missense
NRN1LENSG00000188038ENST00000339176p.?c.80-8A>CUnknown
PRSS12ENSG00000164099ENST00000296498p.P735Pc.2205A>GSubstitution - coding silent
ZNF814ENSG00000204514ENST00000435989p.R41Cc.121C>TSubstitution - Missense
TGFBRAP1ENSG00000135966ENST00000258449p.K485Kc.1455G>ASubstitution - coding silent
TPTEENSG00000166157ENST00000298232p.N387Nc.1161C>TSubstitution - coding silent
MFSD2BENSG00000205639ENST00000406420p.?c.773-7G>AUnknown
LYG1ENSG00000144214ENST00000308528p.A87Tc.259G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.?c.2555+2T>GUnknown
CREB3L2ENSG00000182158ENST00000456390p.?c.583+7C>GUnknown
NELFCDENSG00000101158ENST00000344018p.V330Ic.988G>ASubstitution - Missense
MID2ENSG00000080561ENST00000262843p.R253Cc.757C>TSubstitution - Missense
AK4ENSG00000162433ENST00000545314p.M53Ic.159G>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.S1019Rc.3057C>GSubstitution - Missense
CHRNB2ENSG00000160716ENST00000368476p.Q351Qc.1053G>ASubstitution - coding silent
LAG3ENSG00000089692ENST00000203629p.E321Qc.961G>CSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
ENSG00000205148ENST00000378936p.D119fs*5c.353_354insGInsertion - Frameshift
RUFY2ENSG00000204130ENST00000388768p.A418Ac.1254C>TSubstitution - coding silent
FANCIENSG00000140525ENST00000300027p.L1081Lc.3243G>ASubstitution - coding silent
PROX1ENSG00000117707ENST00000498508p.Q196Hc.588G>CSubstitution - Missense
NM_203304.1p.T168Pc.502A>CSubstitution - Missense
SERINC4ENSG00000184716ENST00000249714p.G153Gc.459G>ASubstitution - coding silent
EEF1DENSG00000104529ENST00000423316p.A65Ac.195C>GSubstitution - coding silent
TACC1ENSG00000147526ENST00000379931p.S460Lc.1379C>TSubstitution - Missense
PLCB4ENSG00000101333ENST00000378473p.D1180Nc.3538G>ASubstitution - Missense
ENST00000344371p.P82Pc.246G>ASubstitution - coding silent
PKHD1ENSG00000170927ENST00000340994p.K2463Qc.7387A>CSubstitution - Missense
FXYD5ENSG00000089327ENST00000392219p.P71Lc.212C>TSubstitution - Missense
CCNCENSG00000112237ENST00000520429p.?c.32+10C>TUnknown
PPP4R1ENSG00000154845ENST00000400556p.?c.2689+8G>TUnknown
PVRL2ENSG00000130202ENST00000252485p.E101Kc.301G>ASubstitution - Missense
RETSATENSG00000042445ENST00000295802p.?c.799+1delgUnknown
CD300LBENSG00000178789ENST00000392621p.D235Dc.705C>TSubstitution - coding silent
FAM47AENSG00000185448ENST00000346193p.E193Dc.579G>CSubstitution - Missense
TCN2ENSG00000185339ENST00000215838p.S353Cc.1058C>GSubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.V1455Vc.4365G>ASubstitution - coding silent
KRT33AENSG00000006059ENST00000007735p.R316Sc.948A>CSubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.R704Cc.2110C>TSubstitution - Missense
ENST00000318252p.D2854Yc.8560G>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.H1334Rc.4001A>GSubstitution - Missense
ENST00000246798p.H514Rc.1541A>GSubstitution - Missense
OSGEPL1ENSG00000128694ENST00000264151p.A82Tc.244G>ASubstitution - Missense
TLR7ENSG00000196664ENST00000380659p.A970Vc.2909C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.S495Rc.1485C>GSubstitution - Missense
WDR47ENSG00000085433ENST00000369965p.P410Lc.1229C>TSubstitution - Missense
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
ADAM30ENSG00000134249ENST00000369400p.R709Wc.2125C>TSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.R3457Cc.10369C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.P2014Qc.6041C>ASubstitution - Missense
OR2A4ENSG00000180658ENST00000315453p.A56Tc.166G>ASubstitution - Missense
DHX58ENSG00000108771ENST00000251642p.?c.561+9G>AUnknown
ZNF107ENSG00000196247ENST00000395391p.I209Tc.626T>CSubstitution - Missense
HLTFENSG00000071794ENST00000310053p.K662Ic.1985A>TSubstitution - Missense
NIF3L1ENSG00000196290ENST00000359683p.P99Tc.295C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.S524Sc.1572C>TSubstitution - coding silent
ENST00000404649p.Q125Qc.375A>GSubstitution - coding silent
ADCY7ENSG00000121281ENST00000394697p.R592Qc.1775G>ASubstitution - Missense
ZNF440ENSG00000171295ENST00000304060p.N575fs*15c.1723delADeletion - Frameshift
PRAM1ENSG00000133246ENST00000423345p.?c.1499+9G>AUnknown
CD84ENSG00000066294ENST00000311224p.I111Vc.331A>GSubstitution - Missense
COX15ENSG00000014919ENST00000016171p.R222Cc.664C>TSubstitution - Missense
PKD2L1ENSG00000107593ENST00000318222p.V548Ic.1642G>ASubstitution - Missense
ENST00000319957p.?c.764-9T>CUnknown
ZFHX4ENSG00000091656ENST00000050961p.L3499Fc.10495C>TSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.D37Dc.111C>TSubstitution - coding silent
ENST00000457912_v65p.Y413Yc.1239C>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.P2166Sc.6496C>TSubstitution - Missense
KCNJ3ENSG00000162989ENST00000295101p.N220Kc.660C>ASubstitution - Missense
TNIKENSG00000154310ENST00000436636p.T987Tc.2961T>GSubstitution - coding silent
PKDCCENSG00000162878ENST00000294964p.P305Pc.915G>ASubstitution - coding silent
CDH7ENSG00000081138ENST00000323011p.?c.1613-4C>GUnknown
CELSR3ENSG00000008300ENST00000164024p.V162Ic.484G>ASubstitution - Missense
PSMC2ENSG00000161057ENST00000292644p.L56Fc.166C>TSubstitution - Missense
CCZ1ENSG00000122674ENST00000325974p.Q177Qc.531A>GSubstitution - coding silent
SNX8ENSG00000106266ENST00000222990p.N381Nc.1143C>TSubstitution - coding silent
ABCA9ENSG00000154258ENST00000340001p.A1285Tc.3853G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1005Dc.3013C>GSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.L2494Vc.7480C>GSubstitution - Missense
ENSG00000182329ENST00000541917p.?c.1936+3A>GUnknown
PHLPP1ENSG00000081913ENST00000400316p.V942Vc.2826G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.G12339Gc.37017C>TSubstitution - coding silent
ILF3ENSG00000129351ENST00000318511p.?c.1675-5T>AUnknown
CYP24A1ENSG00000019186ENST00000216862p.A319Ac.957T>ASubstitution - coding silent
CCBL2ENSG00000137944ENST00000260508p.?c.303+4A>GUnknown
DMXL2ENSG00000104093ENST00000251076p.S2979Sc.8937A>TSubstitution - coding silent
BIRC3ENSG00000023445ENST00000263464p.R202Sc.606A>TSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.G59Ac.176G>CSubstitution - Missense
BTRCENSG00000166167ENST00000370187p.Y602Yc.1806C>TSubstitution - coding silent
ACTR6ENSG00000075089ENST00000188312p.L113Vc.337C>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R968Qc.2903G>ASubstitution - Missense
EXT2ENSG00000151348ENST00000358681p.P67Pc.201G>ASubstitution - coding silent
ALKBH2ENSG00000189046ENST00000343075p.R142Wc.424C>TSubstitution - Missense
MTHFSDENSG00000103248ENST00000322911p.D197Nc.589G>ASubstitution - Missense
ENST00000319748p.C161Gc.481T>GSubstitution - Missense
ARHGAP15ENSG00000075884ENST00000295095p.T53Tc.159T>GSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.P2166Sc.6496C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.P1701Pc.5103G>ASubstitution - coding silent
PCDHA6ENSG00000081842ENST00000378126p.N402Nc.1206T>CSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.M2446Lc.7336A>TSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.K545Kc.1635G>ASubstitution - coding silent
ENST00000238522p.K545Kc.1635G>ASubstitution - coding silent
ZNF682ENSG00000197124ENST00000397165p.R473fs*11c.1419_1420delAGDeletion - Frameshift
ENSG00000228273ENST00000379458p.S294Cc.881C>GSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.S1768Gc.5302A>GSubstitution - Missense
CYP3A5ENSG00000106258ENST00000222982p.L453Vc.1357C>GSubstitution - Missense
APCDD1ENSG00000154856ENST00000355285p.L484Vc.1450C>GSubstitution - Missense
MT1EENSG00000169715ENST00000330439p.N95Nc.285C>TSubstitution - coding silent
ZNF846ENSG00000196605ENST00000397902p.S434Fc.1301C>TSubstitution - Missense
SYPL2ENSG00000143028ENST00000369872p.F117Vc.349T>GSubstitution - Missense
HTR3BENSG00000149305ENST00000260191p.S156Ic.467G>TSubstitution - Missense
LOXL4ENSG00000138131ENST00000260702p.V348Mc.1042G>ASubstitution - Missense
FMO6PENSG00000117507ENST00000236166p.P301Sc.901C>TSubstitution - Missense
ENST00000314607_v71p.G1299Rc.3895G>CSubstitution - Missense
CPNE7ENSG00000178773ENST00000268720p.?c.816+5G>CUnknown
CALD1ENSG00000122786ENST00000361675p.K570Ec.1708A>GSubstitution - Missense
CALD1ENSG00000122786ENST00000393118p.K335Ec.1003A>GSubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.E1505Dc.4515G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.D3125Yc.9373G>TSubstitution - Missense
POT1ENSG00000128513ENST00000357628p.V326Ac.977T>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R280Rc.838A>CSubstitution - coding silent
PIKFYVEENSG00000115020ENST00000264380p.P21Ac.61C>GSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.D723Nc.2167G>ASubstitution - Missense
EXD2ENSG00000081177ENST00000312994p.R31Cc.91C>TSubstitution - Missense
SVILENSG00000197321ENST00000355867p.G1510Dc.4529G>ASubstitution - Missense
ATXN3ENSG00000066427ENST00000429774p.Q298_G299ins11c.863_864ins33Insertion - In frame
ADAMTS6ENSG00000049192ENST00000381055p.P898Pc.2694C>TSubstitution - coding silent
PLVAPENSG00000130300ENST00000252590p.T56Ic.167C>TSubstitution - Missense
CHP2ENSG00000166869ENST00000300113p.A56Vc.167C>TSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.Y4274Yc.12822C>TSubstitution - coding silent
ENST00000221905p.?c.243+9G>CUnknown
HAUS3ENSG00000214367ENST00000243706p.L300Lc.900A>GSubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.Y1790Cc.5369A>GSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.L675Pc.2024T>CSubstitution - Missense
ZNF549ENSG00000121406ENST00000240719p.E541Kc.1621G>ASubstitution - Missense
LRRN1ENSG00000175928ENST00000319331p.K266Tc.797A>CSubstitution - Missense
ENST00000405167p.L3649Pc.10946T>CSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.T1467Ic.4400C>TSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.E586Kc.1756G>ASubstitution - Missense
ENST00000300671p.R807Rc.2421A>GSubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.L2766Qc.8297T>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.H2894Pc.8681A>CSubstitution - Missense
FAM189BENSG00000160767ENST00000361361p.R585Wc.1753C>TSubstitution - Missense
ENST00000266524p.L1316fs*14c.3946_3947delCTDeletion - Frameshift
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
AENENSG00000181026ENST00000379231p.L106Fc.318G>TSubstitution - Missense
RELTENSG00000054967ENST00000064780p.G155Sc.463G>ASubstitution - Missense
GPR123ENSG00000197177ENST00000392607p.P131Sc.391C>TSubstitution - Missense
EXOC3L4ENSG00000205436ENST00000380069p.P11Pc.33G>ASubstitution - coding silent
MTHFSDENSG00000103248ENST00000381214p.D198Nc.592G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.V738Lc.2212G>CSubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.V1016Ac.3047T>CSubstitution - Missense
TSNARE1ENSG00000171045ENST00000307180p.P409Lc.1226C>TSubstitution - Missense
TP63ENSG00000073282ENST00000354600p.F83Fc.249C>TSubstitution - coding silent
PLRG1ENSG00000171566ENST00000499023p.P188Sc.562C>TSubstitution - Missense
CXCL14ENSG00000145824ENST00000337225p.K45Ec.133A>GSubstitution - Missense
HDXENSG00000165259ENST00000297977p.R445Qc.1334G>ASubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.I1431Tc.4292T>CSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.T165Mc.494C>TSubstitution - Missense
NRG1ENSG00000157168ENST00000520502p.S182Sc.546T>CSubstitution - coding silent
ENST00000262719_v68p.V1455Vc.4365G>ASubstitution - coding silent
NM_003319p.G12147Gc.36441C>TSubstitution - coding silent
TRPV6ENSG00000165125ENST00000359396p.I12Ic.36T>ASubstitution - coding silent
MT1EENSG00000169715ENST00000330439p.T99Sc.296C>GSubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.P417Pc.1251C>TSubstitution - coding silent
ZNF709ENSG00000242852ENST00000397732p.S600Lc.1799C>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.S1139Rc.3415A>CSubstitution - Missense
BIN3ENSG00000147439ENST00000276416p.E109Qc.325G>CSubstitution - Missense
BCAS1ENSG00000064787ENST00000395961p.T270Sc.809C>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L4123Qc.12368T>ASubstitution - Missense
ABCC1ENSG00000103222ENST00000399410p.V1206Vc.3618G>TSubstitution - coding silent
FAM78BENSG00000188859ENST00000354422p.T37Sc.109A>TSubstitution - Missense
RNF19BENSG00000116514ENST00000356990p.G359Gc.1077G>ASubstitution - coding silent
SLIT1ENSG00000187122ENST00000266058p.G379Cc.1135G>TSubstitution - Missense
KLRC1ENSG00000134545ENST00000359151p.C80Sc.238T>ASubstitution - Missense
C8orf22ENSG00000168333ENST00000303202p.E63Vc.188A>TSubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.R1400Wc.4198C>TSubstitution - Missense
ENST00000332088p.C92Yc.275G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000359285p.P184Pc.552C>TSubstitution - coding silent
ASPHD1ENSG00000174939ENST00000308748p.S147Nc.440G>ASubstitution - Missense
MUC13ENSG00000173702ENST00000311075p.Q355Kc.1063C>ASubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.K63Rc.188A>GSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.Q1273Kc.3817C>ASubstitution - Missense
ENST00000542622p.D151Nc.451G>ASubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
PDE11AENSG00000128655ENST00000358450p.P245Lc.734C>TSubstitution - Missense
CREB3L2ENSG00000182158ENST00000452463p.S197Cc.590C>GSubstitution - Missense
CAMKK1ENSG00000004660ENST00000158166p.V123Mc.367G>ASubstitution - Missense
CAMKK1ENSG00000004660ENST00000348335p.V123Mc.367G>ASubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.R539Cc.1615C>TSubstitution - Missense
DNAH12ENSG00000174844ENST00000311202p.Y81Cc.242A>GSubstitution - Missense
KDM4CENSG00000107077ENST00000381309p.A435Gc.1304C>GSubstitution - Missense
SLC7A10ENSG00000130876ENST00000253188p.A222Sc.664G>TSubstitution - Missense
BARD1ENSG00000138376ENST00000260947p.R294Rc.882G>ASubstitution - coding silent
PRAM1ENSG00000133246ENST00000423345p.?c.1499+10G>AUnknown
LPHN2ENSG00000117114ENST00000370725p.V1106Ac.3317T>CSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.D336Nc.1006G>ASubstitution - Missense
CD248ENSG00000174807ENST00000311330p.S443delSc.1326_1328delCTCDeletion - In frame
KRTAP26-1ENSG00000197683ENST00000360542p.R204Hc.611G>ASubstitution - Missense
ELF2ENSG00000109381ENST00000358635p.?c.434-1G>TUnknown
PTPRSENSG00000105426ENST00000372412p.P608Pc.1824C>TSubstitution - coding silent
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
SMOXENSG00000088826ENST00000379460p.R26Hc.77G>ASubstitution - Missense
MAP2K2ENSG00000126934ENST00000262948p.D140Dc.420C>TSubstitution - coding silent
EMC6ENSG00000127774ENST00000397133p.I43Ic.129C>ASubstitution - coding silent
SLC8A1ENSG00000183023ENST00000403092p.E617Kc.1849G>ASubstitution - Missense
BLKENSG00000136573ENST00000259089p.P223Lc.668C>TSubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.T946Tc.2838G>CSubstitution - coding silent
AAK1ENSG00000115977ENST00000409085p.P390Tc.1168C>ASubstitution - Missense
CDH9ENSG00000113100ENST00000231021p.P466Qc.1397C>ASubstitution - Missense
NM_000933.2p.G1180Ec.3539G>ASubstitution - Missense
ENST00000405167p.T1572Sc.4715C>GSubstitution - Missense
PHLPP1ENSG00000081913ENST00000400316p.E992Dc.2976G>TSubstitution - Missense
DCCENSG00000187323ENST00000442544p.A1174Sc.3520G>TSubstitution - Missense
NM_015691.2p.R268Kc.803G>ASubstitution - Missense
PRMT8ENSG00000111218ENST00000382622p.P33Lc.98C>TSubstitution - Missense
RGS16ENSG00000143333ENST00000367558p.T140Mc.419C>TSubstitution - Missense
ZMYM4ENSG00000146463ENST00000314607p.G1299Rc.3895G>CSubstitution - Missense
RGS4ENSG00000117152ENST00000367909p.D43Ec.129C>ASubstitution - Missense
GOLGA8RENSG00000186399ENST00000327271p.T290Tc.870G>ASubstitution - coding silent
DCAF8ENSG00000132716ENST00000326837p.P488Rc.1463C>GSubstitution - Missense
SAAL1ENSG00000166788ENST00000524803p.E19_V20insEEc.40_41insAGGAGGInsertion - In frame
TENM4ENSG00000149256ENST00000278550p.G2567Gc.7701C>TSubstitution - coding silent
C12orf66ENSG00000174206ENST00000398055p.T281Mc.842C>TSubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.G851Ec.2552G>ASubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.R268Kc.803G>ASubstitution - Missense
CCNFENSG00000162063ENST00000397066p.?c.777+9C>TUnknown
SDK1ENSG00000146555ENST00000404826p.T1652Kc.4955C>ASubstitution - Missense
HIST1H2AHENSG00000184825ENST00000377459p.A127Ac.381C>TSubstitution - coding silent
MAGEA8ENSG00000156009ENST00000535454p.P99Pc.297G>CSubstitution - coding silent
HAP1ENSG00000173805ENST00000347901p.D339Nc.1015G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.P974Pc.2922C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.?c.3191-2A>GUnknown
SLC9B1P1ENSG00000183704ENST00000331172p.K96Nc.288A>CSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.V3784Ic.11350G>ASubstitution - Missense
HIRIP3ENSG00000149929ENST00000279392p.E532Ec.1596A>GSubstitution - coding silent
PVRL2ENSG00000130202ENST00000252483p.E101Kc.301G>ASubstitution - Missense
NR0B1ENSG00000169297ENST00000378970p.A127Tc.379G>ASubstitution - Missense
ZFXENSG00000005889ENST00000379188p.H637Hc.1911T>CSubstitution - coding silent
MRPS9ENSG00000135972ENST00000258455p.R223Qc.668G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L3649Pc.10946T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G1004Gc.3012T>GSubstitution - coding silent
TP63ENSG00000073282ENST00000418709p.F177Fc.531C>TSubstitution - coding silent
IL6STENSG00000134352ENST00000381298p.D312Dc.936C>TSubstitution - coding silent
RHBDL1ENSG00000103269ENST00000219551p.V420Ic.1258G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.H463Lc.1388A>TSubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.T590Tc.1770G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.P1223Pc.3669C>TSubstitution - coding silent
NCAPH2ENSG00000025770ENST00000395698p.Q214*c.640C>TSubstitution - Nonsense
ENST00000217537p.K1061Tc.3182A>CSubstitution - Missense
MARK4ENSG00000007047ENST00000262891p.P439Pc.1317G>ASubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.K739Kc.2217G>ASubstitution - coding silent
ENST00000316893p.A831Sc.2491G>TSubstitution - Missense
ITGADENSG00000156886ENST00000389202p.P743Pc.2229C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T1572Sc.4715C>GSubstitution - Missense
MFSD2BENSG00000205639ENST00000406420p.?c.773-7G>AUnknown
ABCC12ENSG00000140798ENST00000311303p.L1027fs*7c.3080delTDeletion - Frameshift
ENST00000334187_v71p.P46Sc.136C>TSubstitution - Missense
GRTP1ENSG00000139835ENST00000375431p.R221Rc.663T>CSubstitution - coding silent
ST5ENSG00000166444ENST00000534127p.P352Pc.1056A>CSubstitution - coding silent
PRMT8ENSG00000111218ENST00000452611p.P24Lc.71C>TSubstitution - Missense
COPS7AENSG00000111652ENST00000543155p.?c.530+9C>TUnknown
TMC5ENSG00000103534ENST00000396229p.V637Ic.1909G>ASubstitution - Missense
CYB561D1ENSG00000174151ENST00000420578p.C169Rc.505T>CSubstitution - Missense
PYGMENSG00000068976ENST00000164139p.I627Vc.1879A>GSubstitution - Missense
SUPV3L1ENSG00000156502ENST00000359655p.R29Lc.86G>TSubstitution - Missense
RBM19ENSG00000122965ENST00000392561p.R143Wc.427C>TSubstitution - Missense
SLC4A8ENSG00000050438ENST00000453097p.?c.764-9T>CUnknown
NM_018113.1p.H380Hc.1140C>TSubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.K1010Mc.3029A>TSubstitution - Missense
SLC37A2ENSG00000134955ENST00000403796p.V412Vc.1236C>ASubstitution - coding silent
MBD6ENSG00000166987ENST00000355673p.G781Wc.2341G>TSubstitution - Missense
ABCC1ENSG00000103222ENST00000399408p.V1216Vc.3648G>TSubstitution - coding silent
ARHGAP21ENSG00000107863ENST00000376410p.S74Pc.220T>CSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.P367Pc.1101G>ASubstitution - coding silent
RBM33ENSG00000184863ENST00000401878p.R1078Rc.3234G>ASubstitution - coding silent
NM_016377.2p.E44Kc.130G>ASubstitution - Missense
FXYD5ENSG00000089327ENST00000541435p.P71Lc.212C>TSubstitution - Missense
USP17L2ENSG00000223443ENST00000333796p.L136Lc.408C>ASubstitution - coding silent
KIF15ENSG00000163808ENST00000326047p.Q940*c.2818C>TSubstitution - Nonsense
NCAPH2ENSG00000025770ENST00000299821p.Q214*c.640C>TSubstitution - Nonsense
PSMD1ENSG00000173692ENST00000308696p.A23Ac.69A>GSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.?c.4184-8C>TUnknown
UBR2ENSG00000024048ENST00000372899p.V1384Vc.4152G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.I2715Tc.8144T>CSubstitution - Missense
ASGR1ENSG00000141505ENST00000269299p.C277Cc.831C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.R2540Cc.7618C>TSubstitution - Missense
PLECENSG00000178209ENST00000354958p.V474Mc.1420G>ASubstitution - Missense
CAMKK1ENSG00000004660ENST00000348335p.S57delSc.170_172delGTADeletion - In frame
ERC2ENSG00000187672ENST00000288221p.N542Nc.1626T>CSubstitution - coding silent
SLC45A1ENSG00000162426ENST00000289877p.P408Pc.1224C>TSubstitution - coding silent
PCNXL3ENSG00000197136ENST00000355703p.?c.154-8A>GUnknown
KIAA1522ENSG00000162522ENST00000373480p.I197Ic.591C>ASubstitution - coding silent
LMBR1LENSG00000139636ENST00000267102p.H385Hc.1155C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.R968Qc.2903G>ASubstitution - Missense
NTRK1ENSG00000198400ENST00000524377p.R554fs*104c.1660delCDeletion - Frameshift
KLF5ENSG00000102554ENST00000377687p.G436Rc.1306G>ASubstitution - Missense
MTSS1ENSG00000170873ENST00000378017p.R403Hc.1208G>ASubstitution - Missense
ENST00000319396p.S1663Sc.4989C>TSubstitution - coding silent
SUSD2ENSG00000099994ENST00000358321p.R714Hc.2141G>ASubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.T605Tc.1815C>GSubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.H502Lc.1505A>TSubstitution - Missense
MYO6ENSG00000196586ENST00000369977p.R556*c.1666C>TSubstitution - Nonsense
VPS13AENSG00000197969ENST00000357409p.P974Pc.2922C>TSubstitution - coding silent
AP3B1ENSG00000132842ENST00000255194p.T868Ac.2602A>GSubstitution - Missense
ARHGEF28ENSG00000214944ENST00000545377p.E941Kc.2821G>ASubstitution - Missense


COSMIC

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