Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
ABCB10 | - | - | - | - | 3 | Gain | - |
ABI1 | - | - | - | - | 3 | Gain | - |
ABL2 | - | - | - | - | 3 | Gain | - |
AC092017.3 | - | - | - | - | 3 | Gain | - |
AC118470.1 | - | - | - | - | 3 | Gain | - |
AC239799.1 | - | - | - | - | 3 | Gain | - |
AC243547.3 | - | - | - | - | 3 | Gain | - |
ACBD3 | - | - | - | - | 3 | Gain | - |
ACBD5 | - | - | - | - | 3 | Gain | - |
ACBD6 | - | - | - | - | 3 | Gain | - |
ACBD7 | - | - | - | - | 3 | Gain | - |
ACKR1 | - | - | - | - | 3 | Gain | - |
ACOX1 | p.P168H | Missense | SNP | 0.452 | 2 | - | - |
ACP6 | - | - | - | - | 3 | Gain | - |
ACTA1 | - | - | - | - | 3 | Gain | - |
ACTN2 | - | - | - | - | 3 | Gain | - |
ADAM15 | - | - | - | - | 3 | Gain | - |
ADAMTS15 | p.V505A | Missense | SNP | 0.598 | 2 | - | - |
ADAMTS4 | - | - | - | - | 3 | Gain | - |
ADAMTSL4 | - | - | - | - | 3 | Gain | - |
ADAR | - | - | - | - | 3 | Gain | - |
ADARB1 | p.R675H | Missense | SNP | 0.519 | 2 | - | - |
ADARB2 | - | - | - | - | 3 | Gain | - |
ADCY10 | - | - | - | - | 3 | Gain | - |
ADGRB2 | - | - | - | - | 1 | Loss | - |
ADGRB3 | p.R982C | Missense | SNP | 0.504 | 2 | - | - |
ADIPOQ | p.D229G | Missense | SNP | 0.543 | 2 | - | - |
ADIPOR1 | - | - | - | - | 3 | Gain | - |
ADORA1 | - | - | - | - | 3 | Gain | - |
ADSS | - | - | - | - | 3 | Gain | - |
AGO2 | p.T526M | Missense | SNP | 0.390 | 2 | - | - |
AGT | - | - | - | - | 3 | Gain | - |
AHCTF1 | - | - | - | - | 3 | Gain | - |
AIDA | - | - | - | - | 3 | Gain | - |
AIM2 | - | - | - | - | 3 | Gain | - |
AKR1C1 | - | - | - | - | 3 | Gain | - |
AKR1C2 | - | - | - | - | 3 | Gain | - |
AKR1C3 | - | - | - | - | 3 | Gain | - |
AKR1C4 | - | - | - | - | 3 | Gain | - |
AKR1C8P | - | - | - | - | 3 | Gain | - |
AKR1E2 | - | - | - | - | 3 | Gain | - |
AKT3 | - | - | - | - | 3 | Gain | - |
AL117339.5 | - | - | - | - | 3 | Gain | - |
AL117348.2 | - | - | - | - | 3 | Gain | - |
AL139011.2 | - | - | - | - | 3 | Gain | - |
AL139142.2 | - | - | - | - | 3 | Gain | - |
AL157392.5 | - | - | - | - | 3 | Gain | - |
AL358472.6 | - | - | - | - | 3 | Gain | - |
AL358472.7 | - | - | - | - | 3 | Gain | - |
AL445238.1 | - | - | - | - | 3 | Gain | - |
AL445989.1 | - | - | - | - | 3 | Gain | - |
AL512785.2 | - | - | - | - | 3 | Gain | - |
AL590132.1 | - | - | - | - | 3 | Gain | - |
AL591806.3 | - | - | - | - | 3 | Gain | - |
AL691442.1 | - | - | - | - | 3 | Gain | - |
AL713999.1 | - | - | - | - | 3 | Gain | - |
ALAS2 | p.R517C | Missense | SNP | 0.467 | ND | ND | - |
ALDH9A1 | - | - | - | - | 3 | Gain | - |
ALPI | p.N184T | Missense | SNP | 0.495 | 2 | - | - |
ALPK3 | p.S401I | Missense | SNP | 0.497 | 2 | - | - |
AMY2A | - | - | - | - | 3 | Gain | - |
AMY2B | - | - | - | - | 3 | Gain | - |
ANGEL2 | - | - | - | - | 3 | Gain | - |
ANGPTL1 | - | - | - | - | 3 | Gain | - |
ANGPTL2 | p.Q51R | Missense | SNP | 0.435 | 2 | - | - |
ANKRD16 | - | - | - | - | 3 | Gain | - |
ANKRD26 | - | - | - | - | 3 | Gain | - |
ANKRD30A | - | - | - | - | 3 | Gain | - |
ANKRD30B | p.Y1319* | Nonsense | SNP | 0.562 | 2 | - | - |
ANKRD34A | - | - | - | - | 3 | Gain | - |
ANKRD35 | - | - | - | - | 3 | Gain | - |
ANKRD45 | - | - | - | - | 3 | Gain | - |
ANO8 | p.E588D | Missense | SNP | 0.514 | 2 | - | - |
ANP32E | - | - | - | - | 3 | Gain | - |
ANXA6 | p.A104V | Missense | SNP | 0.521 | 2 | - | - |
ANXA9 | - | - | - | - | 3 | Gain | - |
AOX1 | p.N1069S | Missense | SNP | 0.429 | 2 | - | - |
APBB1IP | - | - | - | - | 3 | Gain | - |
APCS | - | - | - | - | 3 | Gain | - |
APH1A | - | - | - | - | 3 | Gain | - |
APOA2 | - | - | - | - | 3 | Gain | - |
APOBEC4 | - | - | - | - | 3 | Gain | - |
AQP10 | - | - | - | - | 3 | Gain | - |
ARAP3 | p.X365_splice | Splice_Site | SNP | 0.471 | 2 | - | - |
ARF1 | - | - | - | - | 3 | Gain | - |
ARHGAP12 | - | - | - | - | 3 | Gain | - |
ARHGAP21 | - | - | - | - | 3 | Gain | - |
ARHGAP30 | - | - | - | - | 3 | Gain | - |
ARHGEF11 | - | - | - | - | 3 | Gain | - |
ARHGEF18 | p.Q779* | Nonsense | SNP | 0.474 | 2 | - | - |
ARHGEF2 | - | - | - | - | 3 | Gain | - |
ARID4B | - | - | - | - | 3 | Gain | - |
ARL17A | - | - | - | - | 2 | - | ARL17A--KANSL1 |
ARL5B | - | - | - | - | 3 | Gain | - |
ARL8A | - | - | - | - | 3 | Gain | - |
ARMC3 | - | - | - | - | 3 | Gain | - |
ARMC4 | - | - | - | - | 3 | Gain | - |
ARNT | - | - | - | - | 3 | Gain | - |
ARPC5 | - | - | - | - | 3 | Gain | - |
ARV1 | - | - | - | - | 3 | Gain | - |
ASB13 | - | - | - | - | 3 | Gain | - |
ASH1L | - | - | - | - | 3 | Gain | - |
ASPM | - | - | - | - | 3 | Gain | - |
ASTN1 | - | - | - | - | 3 | Gain | - |
ATAD2 | p.A843T | Missense | SNP | 0.415 | 2 | - | - |
ATF3 | - | - | - | - | 3 | Gain | - |
ATF6 | - | - | - | - | 3 | Gain | - |
ATM | p.R250* | Nonsense | SNP | 0.502 | 2 | - | - |
ATP1A2 | - | - | - | - | 3 | Gain | - |
ATP1A4 | - | - | - | - | 3 | Gain | - |
ATP1B1 | - | - | - | - | 3 | Gain | - |
ATP2B4 | - | - | - | - | 3 | Gain | - |
ATP5F1C | - | - | - | - | 3 | Gain | - |
ATP6V1G3 | - | - | - | - | 3 | Gain | - |
ATP8B2 | - | - | - | - | 3 | Gain | - |
AVPR1B | - | - | - | - | 3 | Gain | - |
AXDND1 | - | - | - | - | 3 | Gain | - |
B3GALNT2 | - | - | - | - | 3 | Gain | - |
B3GALT2 | - | - | - | - | 3 | Gain | - |
B4GALT3 | - | - | - | - | 3 | Gain | - |
B4GALT7 | p.R104C | Missense | SNP | 0.138 | 2 | - | - |
BAMBI | - | - | - | - | 3 | Gain | - |
BATF3 | - | - | - | - | 3 | Gain | - |
BAZ2B | p.R1938* | Nonsense | SNP | 0.435 | 2 | - | - |
BCAN | p.R63W | Missense | SNP | 0.288 | 3 | Gain | - |
BCL11B | p.G680R | Missense | SNP | 0.462 | 2 | - | - |
BCL9 | - | - | - | - | 3 | Gain | - |
BCL9L | p.A734V | Missense | SNP | 0.495 | 2 | - | - |
BEND7 | - | - | - | - | 3 | Gain | - |
BGLAP | - | - | - | - | 3 | Gain | - |
BICD2 | p.R450H | Missense | SNP | 0.454 | 2 | - | - |
BICDL1 | p.S36R | Missense | SNP | 0.516 | 2 | - | - |
BLZF1 | - | - | - | - | 3 | Gain | - |
BMI1 | - | - | - | - | 3 | Gain | - |
BNIPL | - | - | - | - | 3 | Gain | - |
BOLA1 | - | - | - | - | 3 | Gain | - |
BPNT1 | - | - | - | - | 3 | Gain | - |
BRF2 | p.R304S | Missense | SNP | 0.496 | 2 | - | - |
BRINP2 | - | - | - | - | 3 | Gain | - |
BRINP3 | p.R109H | Missense | SNP | 0.316 | 3 | Gain | - |
BROX | - | - | - | - | 3 | Gain | - |
BTG2 | - | - | - | - | 3 | Gain | - |
C10orf113 | - | - | - | - | 3 | Gain | - |
C10orf67 | - | - | - | - | 3 | Gain | - |
C1orf100 | - | - | - | - | 3 | Gain | - |
C1orf105 | - | - | - | - | 3 | Gain | - |
C1orf112 | - | - | - | - | 3 | Gain | - |
C1orf115 | - | - | - | - | 3 | Gain | - |
C1orf116 | - | - | - | - | 3 | Gain | - |
C1orf131 | - | - | - | - | 3 | Gain | - |
C1orf167 | p.G1387C | Missense | SNP | 0.457 | 2 | - | - |
C1orf189 | - | - | - | - | 3 | Gain | - |
C1orf198 | - | - | - | - | 3 | Gain | - |
C1orf21 | - | - | - | - | 3 | Gain | - |
C1orf226 | - | - | - | - | 3 | Gain | - |
C1orf35 | - | - | - | - | 3 | Gain | - |
C1orf43 | - | - | - | - | 3 | Gain | - |
C1orf53 | - | - | - | - | 3 | Gain | - |
C1orf54 | - | - | - | - | 3 | Gain | - |
C1orf56 | - | - | - | - | 3 | Gain | - |
C1orf61 | - | - | - | - | 3 | Gain | - |
C1orf68 | - | - | - | - | 3 | Gain | - |
C1orf74 | - | - | - | - | 3 | Gain | - |
C1QL3 | - | - | - | - | 3 | Gain | - |
C1QTNF4 | p.R266H | Missense | SNP | 0.472 | 2 | - | - |
C2CD4D | - | - | - | - | 3 | Gain | - |
C2orf74 | p.T70A | Missense | SNP | 0.455 | 2 | - | - |
C4A | - | - | - | - | 1 | Loss | - |
C4B | - | - | - | - | 1 | Loss | - |
C4BPA | - | - | - | - | 3 | Gain | - |
C4BPB | - | - | - | - | 3 | Gain | - |
CA14 | - | - | - | - | 3 | Gain | - |
CACNA1E | - | - | - | - | 3 | Gain | - |
CACNA1S | - | - | - | - | 3 | Gain | - |
CACNB2 | - | - | - | - | 3 | Gain | - |
CACNG2 | p.T272M | Missense | SNP | 0.378 | 2 | - | - |
CACYBP | - | - | - | - | 3 | Gain | - |
CADM3 | - | - | - | - | 3 | Gain | - |
CALML3 | - | - | - | - | 3 | Gain | - |
CALML5 | - | - | - | - | 3 | Gain | - |
CAMK1D | - | - | - | - | 3 | Gain | - |
CAMK1G | - | - | - | - | 3 | Gain | - |
CAMSAP2 | - | - | - | - | 3 | Gain | - |
CAPN2 | - | - | - | - | 3 | Gain | - |
CAPN8 | - | - | - | - | 3 | Gain | - |
CAPN9 | - | - | - | - | 3 | Gain | - |
CARS2 | p.R341W | Missense | SNP | 0.531 | 2 | - | - |
CASC10 | - | - | - | - | 3 | Gain | - |
CASQ1 | - | - | - | - | 3 | Gain | - |
CATSPERE | - | - | - | - | 3 | Gain | - |
CCDC181 | - | - | - | - | 3 | Gain | - |
CCDC185 | - | - | - | - | 3 | Gain | - |
CCDC190 | - | - | - | - | 3 | Gain | - |
CCDC191 | p.R206C | Missense | SNP | 0.422 | 2 | - | - |
CCDC3 | - | - | - | - | 3 | Gain | - |
CCDC7 | - | - | - | - | 3 | Gain | - |
CCNY | - | - | - | - | 3 | Gain | - |
CCSAP | - | - | - | - | 3 | Gain | - |
CCT3 | - | - | - | - | 3 | Gain | - |
CD160 | - | - | - | - | 3 | Gain | - |
CD1A | - | - | - | - | 3 | Gain | - |
CD1B | - | - | - | - | 3 | Gain | - |
CD1C | - | - | - | - | 3 | Gain | - |
CD1D | - | - | - | - | 3 | Gain | - |
CD1E | - | - | - | - | 3 | Gain | - |
CD244 | - | - | - | - | 3 | Gain | - |
CD247 | - | - | - | - | 3 | Gain | - |
CD34 | - | - | - | - | 3 | Gain | - |
CD46 | - | - | - | - | 3 | Gain | - |
CD48 | - | - | - | - | 3 | Gain | - |
CD55 | - | - | - | - | 3 | Gain | - |
CD5L | - | - | - | - | 3 | Gain | - |
CD84 | - | - | - | - | 3 | Gain | - |
CDC123 | - | - | - | - | 3 | Gain | - |
CDC14A | p.C64Y | Missense | SNP | 0.458 | 2 | - | - |
CDC42BPA | - | - | - | - | 3 | Gain | - |
CDC42SE1 | - | - | - | - | 3 | Gain | - |
CDC73 | - | - | - | - | 3 | Gain | - |
CDH10 | - | - | - | - | 3 | Gain | - |
CDH12 | - | - | - | - | 3 | Gain | - |
CDH18 | - | - | - | - | 3 | Gain | - |
CDH23 | p.H1158Y | Missense | SNP | 0.483 | 2 | - | - |
CDH6 | - | - | - | - | 3 | Gain | - |
CDH9 | - | - | - | - | 3 | Gain | - |
CDK18 | - | - | - | - | 3 | Gain | - |
CDK9 | p.G50S | Missense | SNP | 0.500 | 2 | - | - |
CDNF | - | - | - | - | 3 | Gain | - |
CDR1 | p.D68N | Missense | SNP | 0.463 | ND | ND | - |
CDS2 | p.G359R | Missense | SNP | 0.491 | 2 | - | - |
CELF2 | - | - | - | - | 3 | Gain | - |
CELF3 | - | - | - | - | 3 | Gain | - |
CENPF | - | - | - | - | 3 | Gain | - |
CENPL | - | - | - | - | 3 | Gain | - |
CEP170 | - | - | - | - | 3 | Gain | - |
CEP350 | - | - | - | - | 3 | Gain | - |
CERS2 | - | - | - | - | 3 | Gain | - |
CFAP126 | - | - | - | - | 3 | Gain | - |
CFAP206 | p.D560N | Missense | SNP | 0.475 | 2 | - | - |
CFAP45 | - | - | - | - | 3 | Gain | - |
CFH | - | - | - | - | 3 | Gain | - |
CFHR1 | - | - | - | - | 1 | Loss | - |
CFHR2 | - | - | - | - | 3 | Gain | - |
CFHR3 | - | - | - | - | 1 | Loss | - |
CFHR4 | - | - | - | - | 3 | Gain | - |
CFHR5 | - | - | - | - | 3 | Gain | - |
CGN | - | - | - | - | 3 | Gain | - |
CHADL | p.V85M | Missense | SNP | 0.448 | 2 | - | - |
CHD1 | - | - | - | - | 3 | Gain | - |
CHD1L | - | - | - | - | 3 | Gain | - |
CHI3L1 | - | - | - | - | 3 | Gain | - |
CHIT1 | - | - | - | - | 3 | Gain | - |
CHML | - | - | - | - | 3 | Gain | - |
CHRM3 | - | - | - | - | 3 | Gain | - |
CHRNB2 | - | - | - | - | 3 | Gain | - |
CHTOP | - | - | - | - | 3 | Gain | - |
CIART | - | - | - | - | 3 | Gain | - |
CKS1B | - | - | - | - | 3 | Gain | - |
CLASP1 | p.Q880H | Missense | SNP | 0.409 | 2 | - | - |
CLEC16A | p.X70_splice | Splice_Site | SNP | 0.489 | 2 | - | - |
CLK2 | - | - | - | - | 3 | Gain | - |
CLU | p.E16* | Nonsense | SNP | 0.503 | 2 | - | - |
CNIH3 | - | - | - | - | 3 | Gain | - |
CNIH4 | - | - | - | - | 3 | Gain | - |
CNOT6 | p.R87C | Missense | SNP | 0.456 | 2 | - | - |
CNST | - | - | - | - | 3 | Gain | - |
CNTN2 | - | - | - | - | 3 | Gain | - |
CNTN4 | p.K937N | Missense | SNP | 0.496 | 2 | - | - |
CNTNAP2 | - | - | - | - | 3 | Gain | - |
COA6 | - | - | - | - | 3 | Gain | - |
COG2 | - | - | - | - | 3 | Gain | - |
COL11A1 | - | - | - | - | 3 | Gain | - |
COLGALT2 | - | - | - | - | 3 | Gain | - |
COMMD3 | - | - | - | - | 3 | Gain | - |
COMMD3-BMI1 | - | - | - | - | 3 | Gain | - |
COP1 | - | - | - | - | 3 | Gain | - |
COPA | - | - | - | - | 3 | Gain | - |
COQ8A | - | - | - | - | 3 | Gain | - |
COX20 | - | - | - | - | 3 | Gain | - |
CR1 | - | - | - | - | 3 | Gain | - |
CR1L | - | - | - | - | 3 | Gain | - |
CR2 | - | - | - | - | 3 | Gain | - |
CRABP2 | - | - | - | - | 3 | Gain | - |
CRB1 | - | - | - | - | 3 | Gain | - |
CRCT1 | - | - | - | - | 3 | Gain | - |
CREB3L4 | - | - | - | - | 3 | Gain | - |
CREG1 | - | - | - | - | 3 | Gain | - |
CREM | - | - | - | - | 3 | Gain | - |
CRNN | - | - | - | - | 3 | Gain | - |
CRP | - | - | - | - | 3 | Gain | - |
CRTC2 | - | - | - | - | 3 | Gain | - |
CRYBA4 | p.Y74* | Nonsense | SNP | 0.436 | 2 | - | - |
CSMD2 | p.C3275R | Missense | SNP | 0.492 | 2 | - | - |
CSRP1 | - | - | - | - | 3 | Gain | - |
CST3 | p.A129V | Missense | SNP | 0.402 | 2 | - | - |
CTCF | p.Q486* | Nonsense | SNP | 0.469 | 2 | - | - |
CTNNB1 | p.S37F | Missense | SNP | 0.469 | 2 | - | - |
CTSE | - | - | - | - | 3 | Gain | - |
CTSK | - | - | - | - | 3 | Gain | - |
CTSS | - | - | - | - | 3 | Gain | - |
CUBN | - | - | - | - | 3 | Gain | - |
CUL2 | - | - | - | - | 3 | Gain | - |
CYB5R1 | - | - | - | - | 3 | Gain | - |
DACH1 | - | - | - | - | 3 | Gain | - |
DAP3 | - | - | - | - | 3 | Gain | - |
DARS2 | - | - | - | - | 3 | Gain | - |
DCAF6 | - | - | - | - | 3 | Gain | - |
DCAF8 | - | - | - | - | 3 | Gain | - |
DCLRE1C | - | - | - | - | 3 | Gain | - |
DCST1 | - | - | - | - | 3 | Gain | - |
DCST2 | - | - | - | - | 3 | Gain | - |
DDR2 | - | - | - | - | 3 | Gain | - |
DDX53 | p.A11V | Missense | SNP | 0.455 | ND | ND | - |
DDX59 | - | - | - | - | 3 | Gain | - |
DEDD | - | - | - | - | 3 | Gain | - |
DEFA4 | - | - | - | - | 1 | Loss | - |
DEFA5 | - | - | - | - | 1 | Loss | - |
DEFA6 | - | - | - | - | 1 | Loss | - |
DEFB1 | - | - | - | - | 1 | Loss | - |
DEFB103A | - | - | - | - | 1 | Loss | - |
DEFB103B | - | - | - | - | 1 | Loss | - |
DEFB104A | - | - | - | - | 1 | Loss | - |
DEFB104B | - | - | - | - | 1 | Loss | - |
DEFB105A | - | - | - | - | 1 | Loss | - |
DEFB105B | - | - | - | - | 1 | Loss | - |
DEFB106A | - | - | - | - | 1 | Loss | - |
DEFB106B | - | - | - | - | 1 | Loss | - |
DEFB107A | - | - | - | - | 1 | Loss | - |
DEFB107B | - | - | - | - | 1 | Loss | - |
DEFB4A | - | - | - | - | 1 | Loss | - |
DEFB4B | - | - | - | - | 1 | Loss | - |
DEGS1 | - | - | - | - | 3 | Gain | - |
DENND1B | - | - | - | - | 3 | Gain | - |
DENND4B | - | - | - | - | 3 | Gain | - |
DESI2 | - | - | - | - | 3 | Gain | - |
DGKQ | p.A222V | Missense | SNP | 0.672 | 2 | - | - |
DHTKD1 | - | - | - | - | 3 | Gain | - |
DHX9 | - | - | - | - | 3 | Gain | - |
DIP2C | - | - | - | - | 3 | Gain | - |
DISC1 | - | - | - | - | 3 | Gain | - |
DISP1 | - | - | - | - | 3 | Gain | - |
DNAH1 | p.R2474C p.G3706V | Missense Missense | SNP SNP | 0.450 0.526 | 2 | - | - |
DNAH14 | - | - | - | - | 3 | Gain | - |
DNAJC1 | - | - | - | - | 3 | Gain | - |
DNM3 | - | - | - | - | 3 | Gain | - |
DPM3 | - | - | - | - | 3 | Gain | - |
DPP6 | p.G37S | Missense | SNP | 0.173 | 2 | - | - |
DPT | - | - | - | - | 3 | Gain | - |
DROSHA | - | - | - | - | 3 | Gain | - |
DST | p.A3652T p.A1687D p.V674G | Missense Missense Missense | SNP SNP SNP | 0.481 0.480 0.333 | 2 | - | - |
DSTYK | - | - | - | - | 3 | Gain | - |
DTL | - | - | - | - | 3 | Gain | - |
DUSP10 | - | - | - | - | 3 | Gain | - |
DUSP12 | - | - | - | - | 3 | Gain | - |
DUSP23 | - | - | - | - | 3 | Gain | - |
DUSP27 | - | - | - | - | 3 | Gain | - |
DYRK1A | p.E216* | Nonsense | SNP | 0.569 | 2 | - | - |
DYRK3 | - | - | - | - | 3 | Gain | - |
EBLN1 | - | - | - | - | 3 | Gain | - |
ECHDC3 | - | - | - | - | 3 | Gain | - |
ECM1 | - | - | - | - | 3 | Gain | - |
EDARADD | - | - | - | - | 3 | Gain | - |
EDEM3 | - | - | - | - | 3 | Gain | - |
EFCAB2 | - | - | - | - | 3 | Gain | - |
EFNA1 | - | - | - | - | 3 | Gain | - |
EFNA3 | - | - | - | - | 3 | Gain | - |
EFNA4 | p.G127V | Missense | SNP | 0.345 | 3 | Gain | - |
EGLN1 | - | - | - | - | 3 | Gain | - |
EHMT2 | p.A832T | Missense | SNP | 0.504 | 2 | - | - |
EIF2D | - | - | - | - | 3 | Gain | - |
EIF3D | p.R165H | Missense | SNP | 0.457 | 2 | - | - |
ELF3 | - | - | - | - | 3 | Gain | - |
ELK4 | - | - | - | - | 3 | Gain | - |
ENAH | - | - | - | - | 3 | Gain | - |
ENKUR | - | - | - | - | 3 | Gain | - |
ENSA | - | - | - | - | 3 | Gain | - |
EPC1 | - | - | - | - | 3 | Gain | - |
EPHX1 | - | - | - | - | 3 | Gain | - |
EPRS | - | - | - | - | 3 | Gain | - |
ERO1B | - | - | - | - | 3 | Gain | - |
ESRRG | - | - | - | - | 3 | Gain | - |
ETNK2 | - | - | - | - | 3 | Gain | - |
ETV3 | - | - | - | - | 3 | Gain | - |
ETV3L | - | - | - | - | 3 | Gain | - |
EVC2 | p.V693I | Missense | SNP | 0.504 | 2 | - | - |
EXO1 | - | - | - | - | 3 | Gain | - |
EXOC8 | - | - | - | - | 3 | Gain | - |
F11R | - | - | - | - | 3 | Gain | - |
F13B | - | - | - | - | 3 | Gain | - |
F5 | - | - | - | - | 3 | Gain | - |
FAM107B | - | - | - | - | 3 | Gain | - |
FAM129A | - | - | - | - | 3 | Gain | - |
FAM155B | p.A15T | Missense | SNP | 0.557 | ND | ND | - |
FAM163A | - | - | - | - | 3 | Gain | - |
FAM171A1 | - | - | - | - | 3 | Gain | - |
FAM171A2 | p.R58W | Missense | SNP | 0.475 | 2 | - | - |
FAM174A | - | - | - | - | 3 | Gain | - |
FAM177B | - | - | - | - | 3 | Gain | - |
FAM186B | p.W480R | Missense | SNP | 0.479 | 2 | - | - |
FAM189B | - | - | - | - | 3 | Gain | - |
FAM208B | - | - | - | - | 3 | Gain | - |
FAM20B | - | - | - | - | 3 | Gain | - |
FAM3D | p.T18M | Missense | SNP | 0.494 | 2 | - | - |
FAM71A | - | - | - | - | 3 | Gain | - |
FAM78B | - | - | - | - | 3 | Gain | - |
FAM89A | - | - | - | - | 3 | Gain | - |
FASLG | - | - | - | - | 3 | Gain | - |
FASTKD1 | p.R488C | Missense | SNP | 0.527 | 2 | - | - |
FBH1 | - | - | - | - | 3 | Gain | - |
FBN2 | p.E1141G | Missense | SNP | 0.423 | 2 | - | - |
FBXO28 | - | - | - | - | 3 | Gain | - |
FBXW8 | p.V388D | Missense | SNP | 0.437 | 2 | - | - |
FCAMR | - | - | - | - | 3 | Gain | - |
FCER1A | - | - | - | - | 3 | Gain | - |
FCER1G | - | - | - | - | 3 | Gain | - |
FCGR1A | - | - | - | - | 3 | Gain | - |
FCGR2A | - | - | - | - | 3 | Gain | - |
FCGR2B | - | - | - | - | 3 | Gain | - |
FCGR2C | - | - | - | - | 3 | Gain | - |
FCGR3A | - | - | - | - | 3 | Gain | - |
FCGR3B | - | - | - | - | 3 | Gain | - |
FCMR | - | - | - | - | 3 | Gain | - |
FCRL1 | - | - | - | - | 3 | Gain | - |
FCRL2 | - | - | - | - | 3 | Gain | - |
FCRL3 | - | - | - | - | 3 | Gain | - |
FCRL4 | - | - | - | - | 3 | Gain | - |
FCRL5 | - | - | - | - | 3 | Gain | - |
FCRL6 | - | - | - | - | 3 | Gain | - |
FCRLA | - | - | - | - | 3 | Gain | - |
FCRLB | - | - | - | - | 3 | Gain | - |
FDPS | - | - | - | - | 3 | Gain | - |
FER1L5 | p.R942H | Missense | SNP | 0.497 | 2 | - | - |
FH | - | - | - | - | 3 | Gain | - |
FHOD1 | p.R855H | Missense | SNP | 0.516 | 2 | - | - |
FIBCD1 | p.P302S p.E153Q | Missense Missense | SNP SNP | 0.476 0.401 | 2 | - | - |
FLAD1 | - | - | - | - | 3 | Gain | - |
FLG | - | - | - | - | 3 | Gain | - |
FLG2 | - | - | - | - | 5 | Amp | - |
FLRT2 | - | - | - | - | 3 | Gain | - |
FLVCR1 | - | - | - | - | 3 | Gain | - |
FMN2 | - | - | - | - | 3 | Gain | - |
FMO1 | - | - | - | - | 3 | Gain | - |
FMO2 | - | - | - | - | 3 | Gain | - |
FMO3 | - | - | - | - | 3 | Gain | - |
FMO4 | - | - | - | - | 3 | Gain | - |
FMO5 | - | - | - | - | 3 | Gain | - |
FMOD | - | - | - | - | 3 | Gain | - |
FNDC3B | p.P72L | Missense | SNP | 0.473 | 2 | - | - |
FOXO4 | p.R97H | Missense | SNP | 0.474 | ND | ND | - |
FRMD4A | - | - | - | - | 3 | Gain | - |
FSD1 | p.H425Y | Missense | SNP | 0.498 | 2 | - | - |
FSD1L | p.R350* | Nonsense | SNP | 0.459 | 2 | - | - |
FUCA2 | p.N432K | Missense | SNP | 0.448 | 2 | - | - |
FZD8 | - | - | - | - | 3 | Gain | - |
G0S2 | - | - | - | - | 3 | Gain | - |
GABBR1 | p.A870V p.G110A | Missense Missense | SNP SNP | 0.532 0.474 | 2 | - | - |
GABPB2 | - | - | - | - | 3 | Gain | - |
GABRG3 | p.A169V | Missense | SNP | 0.476 | 2 | - | - |
GAD2 | - | - | - | - | 3 | Gain | - |
GALNT2 | - | - | - | - | 3 | Gain | - |
GATA3 | - | - | - | - | 3 | Gain | - |
GATAD2B | - | - | - | - | 3 | Gain | - |
GBA | - | - | - | - | 3 | Gain | - |
GBGT1 | p.I187F | Missense | SNP | 0.490 | 2 | - | - |
GCSAML | - | - | - | - | 3 | Gain | - |
GCSAML-AS1 | - | - | - | - | 3 | Gain | - |
GDI2 | - | - | - | - | 3 | Gain | - |
GDPGP1 | p.R202H | Missense | SNP | 0.520 | 2 | - | - |
GGA3 | p.A674V | Missense | SNP | 0.515 | 2 | - | - |
GGPS1 | - | - | - | - | 3 | Gain | - |
GJA5 | - | - | - | - | 3 | Gain | - |
GJA8 | - | - | - | - | 3 | Gain | - |
GJC2 | - | - | - | - | 3 | Gain | - |
GJD4 | - | - | - | - | 3 | Gain | - |
GLMP | - | - | - | - | 3 | Gain | - |
GLOD4 | p.V158F | Missense | SNP | 0.517 | 2 | - | - |
GLRX2 | - | - | - | - | 3 | Gain | - |
GLT8D1 | - | - | - | - | 3 | Gain | - |
GLUL | - | - | - | - | 3 | Gain | - |
GNG4 | - | - | - | - | 3 | Gain | - |
GNL3 | - | - | - | - | 3 | Gain | - |
GNPAT | - | - | - | - | 3 | Gain | - |
GOLGA3 | p.Q122R | Missense | SNP | 0.472 | 2 | - | - |
GOLPH3L | - | - | - | - | 3 | Gain | - |
GOLT1A | - | - | - | - | 3 | Gain | - |
GON4L | - | - | - | - | 3 | Gain | - |
GORAB | - | - | - | - | 3 | Gain | - |
GPA33 | - | - | - | - | 3 | Gain | - |
GPATCH2 | - | - | - | - | 3 | Gain | - |
GPATCH4 | - | - | - | - | 3 | Gain | - |
GPC5 | - | - | - | - | 3 | Gain | - |
GPC6 | - | - | - | - | 3 | Gain | - |
GPR137B | - | - | - | - | 3 | Gain | - |
GPR158 | - | - | - | - | 3 | Gain | - |
GPR161 | - | - | - | - | 3 | Gain | - |
GPR25 | - | - | - | - | 3 | Gain | - |
GPR37L1 | - | - | - | - | 3 | Gain | - |
GPR52 | - | - | - | - | 3 | Gain | - |
GPR89A | - | - | - | - | 3 | Gain | - |
GPR89B | - | - | - | - | 3 | Gain | - |
GREM2 | - | - | - | - | 3 | Gain | - |
GRHL1 | p.I304S | Missense | SNP | 0.516 | 2 | - | - |
GRIN3A | p.A47T | Missense | SNP | 0.418 | 2 | - | - |
GTPBP4 | - | - | - | - | 3 | Gain | - |
GUK1 | - | - | - | - | 3 | Gain | - |
H3F3A | - | - | - | - | 3 | Gain | - |
HACD1 | - | - | - | - | 3 | Gain | - |
HAPLN2 | - | - | - | - | 3 | Gain | - |
HAX1 | - | - | - | - | 3 | Gain | - |
HCN3 | - | - | - | - | 3 | Gain | - |
HDGF | - | - | - | - | 3 | Gain | - |
HEATR1 | - | - | - | - | 3 | Gain | - |
HERC2 | p.A3712V | Missense | SNP | 0.519 | 2 | - | - |
HHAT | - | - | - | - | 3 | Gain | - |
HHIPL2 | - | - | - | - | 3 | Gain | - |
HIBADH | p.G303D | Missense | SNP | 0.446 | 2 | - | - |
HIST2H2AA3 | - | - | - | - | 3 | Gain | - |
HIST2H2AA4 | - | - | - | - | 3 | Gain | - |
HIST2H2AB | - | - | - | - | 3 | Gain | - |
HIST2H2AC | - | - | - | - | 3 | Gain | - |
HIST2H2BE | - | - | - | - | 3 | Gain | - |
HIST2H2BF | - | - | - | - | 3 | Gain | - |
HIST2H3A | - | - | - | - | 3 | Gain | - |
HIST2H3C | - | - | - | - | 3 | Gain | - |
HIST2H3D | - | - | - | - | 3 | Gain | - |
HIST2H3PS2 | - | - | - | - | 3 | Gain | - |
HIST2H4A | - | - | - | - | 3 | Gain | - |
HIST2H4B | - | - | - | - | 3 | Gain | - |
HIST3H2A | - | - | - | - | 3 | Gain | - |
HIST3H2BB | - | - | - | - | 3 | Gain | - |
HIST3H3 | - | - | - | - | 3 | Gain | - |
HJV | - | - | - | - | 3 | Gain | - |
HLX | - | - | - | - | 3 | Gain | - |
HMCN1 | - | - | - | - | 3 | Gain | - |
HNRNPU | - | - | - | - | 3 | Gain | - |
HNRNPUL1 | p.V747I | Missense | SNP | 0.512 | 2 | - | - |
HORMAD1 | - | - | - | - | 3 | Gain | - |
HOXC13 | p.F174S | Missense | SNP | 0.486 | 2 | - | - |
HRNR | - | - | - | - | 3 | Gain | - |
HSD11B1 | - | - | - | - | 3 | Gain | - |
HSD17B7 | - | - | - | - | 3 | Gain | - |
HSPA14 | - | - | - | - | 3 | Gain | - |
HSPA6 | - | - | - | - | 3 | Gain | - |
HSPE1 | p.V26L | Missense | SNP | 0.456 | 2 | - | - |
IARS2 | - | - | - | - | 3 | Gain | - |
IBA57 | - | - | - | - | 3 | Gain | - |
IDI1 | - | - | - | - | 3 | Gain | - |
IDI2 | - | - | - | - | 3 | Gain | - |
IER5 | - | - | - | - | 3 | Gain | - |
IFI16 | p.F552I | Missense | SNP | 0.326 | 3 | Gain | - |
IGFN1 | - | - | - | - | 3 | Gain | - |
IGSF8 | - | - | - | - | 3 | Gain | - |
IGSF9 | - | - | - | - | 3 | Gain | - |
IKBKE | - | - | - | - | 3 | Gain | - |
IL10 | - | - | - | - | 3 | Gain | - |
IL15RA | - | - | - | - | 3 | Gain | - |
IL19 | - | - | - | - | 3 | Gain | - |
IL20 | - | - | - | - | 3 | Gain | - |
IL24 | - | - | - | - | 3 | Gain | - |
IL2RA | - | - | - | - | 3 | Gain | - |
IL6R | - | - | - | - | 3 | Gain | - |
ILDR2 | - | - | - | - | 3 | Gain | - |
ILF2 | - | - | - | - | 3 | Gain | - |
INAVA | - | - | - | - | 3 | Gain | - |
ING2 | p.R81H | Missense | SNP | 0.510 | 2 | - | - |
INSRR | - | - | - | - | 3 | Gain | - |
INTS3 | - | - | - | - | 3 | Gain | - |
INTS7 | - | - | - | - | 3 | Gain | - |
IPO9 | - | - | - | - | 3 | Gain | - |
IQGAP3 | - | - | - | - | 3 | Gain | - |
IRAK1 | p.P109Q | Missense | SNP | 0.415 | ND | ND | - |
IRF2BP2 | - | - | - | - | 3 | Gain | - |
IRF6 | - | - | - | - | 3 | Gain | - |
ISG20L2 | - | - | - | - | 3 | Gain | - |
ITGA10 | - | - | - | - | 3 | Gain | - |
ITGA8 | - | - | - | - | 3 | Gain | - |
ITGB1 | - | - | - | - | 3 | Gain | - |
ITIH2 | - | - | - | - | 3 | Gain | - |
ITIH5 | - | - | - | - | 3 | Gain | - |
ITK | p.Y182* | Nonsense | SNP | 0.433 | 2 | - | - |
ITLN1 | - | - | - | - | 3 | Gain | - |
ITLN2 | - | - | - | - | 3 | Gain | - |
ITPKB | - | - | - | - | 3 | Gain | - |
IVL | - | - | - | - | 3 | Gain | - |
IVNS1ABP | - | - | - | - | 3 | Gain | - |
JADE2 | p.V737A | Missense | SNP | 0.438 | 2 | - | - |
JARID2 | p.R329I | Missense | SNP | 0.436 | 2 | - | - |
JCAD | - | - | - | - | 3 | Gain | - |
JMJD4 | - | - | - | - | 3 | Gain | - |
JTB | - | - | - | - | 3 | Gain | - |
KANSL1 | - | - | - | - | 2 | - | ARL17A--KANSL1 |
KBTBD11 | p.A319T | Missense | SNP | 0.600 | 2 | - | - |
KCNC2 | p.R100C | Missense | SNP | 0.406 | 2 | - | - |
KCNH1 | - | - | - | - | 3 | Gain | - |
KCNJ10 | - | - | - | - | 3 | Gain | - |
KCNJ9 | - | - | - | - | 3 | Gain | - |
KCNK1 | - | - | - | - | 3 | Gain | - |
KCNK2 | - | - | - | - | 3 | Gain | - |
KCNN3 | - | - | - | - | 3 | Gain | - |
KCNT2 | - | - | - | - | 3 | Gain | - |
KCTD3 | - | - | - | - | 3 | Gain | - |
KDM5B | - | - | - | - | 3 | Gain | - |
KHDC4 | - | - | - | - | 3 | Gain | - |
KIAA0040 | - | - | - | - | 3 | Gain | - |
KIAA1217 | - | - | - | - | 3 | Gain | - |
KIAA1462 | p.G1031E | Missense | SNP | 0.335 | ND | ND | - |
KIAA1614 | - | - | - | - | 3 | Gain | - |
KIF14 | - | - | - | - | 3 | Gain | - |
KIF21B | - | - | - | - | 3 | Gain | - |
KIF26B | - | - | - | - | 3 | Gain | - |
KIF5B | - | - | - | - | 3 | Gain | - |
KIFAP3 | - | - | - | - | 3 | Gain | - |
KIN | - | - | - | - | 3 | Gain | - |
KIRREL1 | - | - | - | - | 3 | Gain | - |
KISS1 | - | - | - | - | 3 | Gain | - |
KLF6 | - | - | - | - | 3 | Gain | - |
KLHDC3 | p.A366T | Missense | SNP | 0.585 | 2 | - | - |
KLHDC8A | - | - | - | - | 3 | Gain | - |
KLHDC9 | - | - | - | - | 3 | Gain | - |
KLHL1 | - | - | - | - | 3 | Gain | - |
KLHL12 | - | - | - | - | 3 | Gain | - |
KLHL20 | - | - | - | - | 3 | Gain | - |
KLHL5 | p.Q584H | Missense | SNP | 0.442 | 2 | - | - |
KMO | - | - | - | - | 3 | Gain | - |
KPRP | - | - | - | - | 3 | Gain | - |
KRT12 | p.L416V | Missense | SNP | 0.493 | 2 | - | - |
KRT2 | p.G525W | Missense | SNP | 0.487 | 2 | - | - |
KRT82 | p.A378T | Missense | SNP | 0.436 | 2 | - | - |
KRTCAP2 | - | - | - | - | 3 | Gain | - |
LAD1 | - | - | - | - | 3 | Gain | - |
LAMB1 | p.X397_splice | Splice_Site | SNP | 0.448 | 2 | - | - |
LAMB3 | - | - | - | - | 3 | Gain | - |
LAMC1 | - | - | - | - | 3 | Gain | - |
LAMC2 | - | - | - | - | 3 | Gain | - |
LAMTOR2 | - | - | - | - | 3 | Gain | - |
LARP4B | - | - | - | - | 3 | Gain | - |
LAX1 | - | - | - | - | 3 | Gain | - |
LBR | - | - | - | - | 3 | Gain | - |
LCE1A | - | - | - | - | 3 | Gain | - |
LCE1B | - | - | - | - | 3 | Gain | - |
LCE1C | - | - | - | - | 3 | Gain | - |
LCE1E | - | - | - | - | 3 | Gain | - |
LCE1F | - | - | - | - | 3 | Gain | - |
LCE2A | - | - | - | - | 3 | Gain | - |
LCE2B | - | - | - | - | 3 | Gain | - |
LCE2C | - | - | - | - | 3 | Gain | - |
LCE2D | - | - | - | - | 3 | Gain | - |
LCE3A | - | - | - | - | 3 | Gain | - |
LCE3B | - | - | - | - | 3 | Gain | - |
LCE3C | p.R67H | Missense | SNP | 1.000 | 3 | Gain | - |
LCE3D | - | - | - | - | 3 | Gain | - |
LCE3E | - | - | - | - | 3 | Gain | - |
LCE4A | - | - | - | - | 3 | Gain | - |
LCE5A | - | - | - | - | 3 | Gain | - |
LCE6A | - | - | - | - | 3 | Gain | - |
LECT1 | p.M79V | Missense | SNP | 0.474 | ND | ND | - |
LEFTY1 | - | - | - | - | 3 | Gain | - |
LEFTY2 | - | - | - | - | 3 | Gain | - |
LELP1 | - | - | - | - | 3 | Gain | - |
LEMD1 | - | - | - | - | 3 | Gain | - |
LENEP | - | - | - | - | 3 | Gain | - |
LGALS8 | - | - | - | - | 3 | Gain | - |
LGR6 | - | - | - | - | 3 | Gain | - |
LHX4 | - | - | - | - | 3 | Gain | - |
LHX9 | - | - | - | - | 3 | Gain | - |
LIN9 | p.P233S | Missense | SNP | 0.305 | 3 | Gain | - |
LINGO4 | - | - | - | - | 3 | Gain | - |
LITAF | p.R227H | Missense | SNP | 0.464 | 2 | - | - |
LIX1L | - | - | - | - | 3 | Gain | - |
LMNA | - | - | - | - | 3 | Gain | - |
LMOD1 | - | - | - | - | 3 | Gain | - |
LMX1A | - | - | - | - | 3 | Gain | - |
LOR | - | - | - | - | 3 | Gain | - |
LPGAT1 | - | - | - | - | 3 | Gain | - |
LPIN2 | p.G399V | Missense | SNP | 0.521 | 2 | - | - |
LRFN1 | p.G450R | Missense | SNP | 0.509 | 2 | - | - |
LRFN2 | p.T753M | Missense | SNP | 0.412 | 2 | - | - |
LRIG1 | p.A48T p.A44T | Missense Missense | SNP SNP | 0.461 0.440 | 2 | - | - |
LRRC10 | p.V48M | Missense | SNP | 0.560 | 2 | - | - |
LRRC52 | - | - | - | - | 3 | Gain | - |
LRRC71 | - | - | - | - | 3 | Gain | - |
LRRC8C | p.N407D | Missense | SNP | 0.491 | 2 | - | - |
LRRN2 | - | - | - | - | 3 | Gain | - |
LTBP3 | p.G152S | Missense | SNP | 0.490 | 2 | - | - |
LY9 | - | - | - | - | 3 | Gain | - |
LYPD2 | p.A20V | Missense | SNP | 0.425 | 2 | - | - |
LYPD8 | - | - | - | - | 3 | Gain | - |
LYPLAL1 | - | - | - | - | 3 | Gain | - |
LYSMD1 | - | - | - | - | 3 | Gain | - |
LYST | - | - | - | - | 3 | Gain | - |
LYZL1 | - | - | - | - | 3 | Gain | - |
LYZL2 | - | - | - | - | 3 | Gain | - |
LZTS1 | p.R368M | Missense | SNP | 0.453 | 2 | - | - |
MAEL | - | - | - | - | 3 | Gain | - |
MAGEA1 | p.R291H | Missense | SNP | 0.387 | ND | ND | - |
MALRD1 | - | - | - | - | 3 | Gain | - |
MAP10 | - | - | - | - | 3 | Gain | - |
MAP1A | p.A842D | Missense | SNP | 0.567 | 2 | - | - |
MAP1LC3C | - | - | - | - | 3 | Gain | - |
MAP3K21 | - | - | - | - | 3 | Gain | - |
MAP3K8 | - | - | - | - | 3 | Gain | - |
MAPKAPK2 | - | - | - | - | 3 | Gain | - |
MARC1 | - | - | - | - | 3 | Gain | - |
MARC2 | - | - | - | - | 3 | Gain | - |
MARK1 | - | - | - | - | 3 | Gain | - |
MASTL | - | - | - | - | 3 | Gain | - |
MCL1 | - | - | - | - | 3 | Gain | - |
MCM10 | - | - | - | - | 3 | Gain | - |
MDM4 | - | - | - | - | 3 | Gain | - |
MED12 | p.Q2136R | Missense | SNP | 0.595 | ND | ND | - |
MED12L | p.R1428I | Missense | SNP | 0.461 | 2 | - | - |
MED13 | p.P1605S | Missense | SNP | 0.508 | 2 | - | - |
MEF2D | - | - | - | - | 3 | Gain | - |
MEIG1 | - | - | - | - | 3 | Gain | - |
MESP1 | p.X242_splice | Splice_Site | SNP | 0.466 | 2 | - | - |
METAP1 | p.M329V | Missense | SNP | 0.543 | 2 | - | - |
METTL11B | - | - | - | - | 3 | Gain | - |
METTL13 | - | - | - | - | 3 | Gain | - |
METTL18 | - | - | - | - | 3 | Gain | - |
MEX3A | - | - | - | - | 3 | Gain | - |
MFSD4A | - | - | - | - | 3 | Gain | - |
MGST3 | - | - | - | - | 3 | Gain | - |
MIA3 | - | - | - | - | 3 | Gain | - |
MID1IP1 | p.T7I | Missense | SNP | 0.519 | ND | ND | - |
MINDY1 | - | - | - | - | 3 | Gain | - |
MINDY3 | - | - | - | - | 3 | Gain | - |
MIXL1 | p.P163Q | Missense | SNP | 0.274 | 3 | Gain | - |
MKX | - | - | - | - | 3 | Gain | - |
MLLT10 | - | - | - | - | 3 | Gain | - |
MLLT11 | - | - | - | - | 3 | Gain | - |
MMP15 | p.R127Q | Missense | SNP | 0.520 | 2 | - | - |
MNDA | - | - | - | - | 3 | Gain | - |
MPC2 | - | - | - | - | 3 | Gain | - |
MPP2 | p.A497V | Missense | SNP | 0.542 | 2 | - | - |
MPP7 | - | - | - | - | 3 | Gain | - |
MPZ | - | - | - | - | 3 | Gain | - |
MPZL1 | - | - | - | - | 3 | Gain | - |
MR1 | - | - | - | - | 3 | Gain | - |
MRC1 | - | - | - | - | 3 | Gain | - |
MROH9 | - | - | - | - | 3 | Gain | - |
MRPL15 | p.F266L | Missense | SNP | 0.482 | 2 | - | - |
MRPL24 | - | - | - | - | 3 | Gain | - |
MRPL55 | - | - | - | - | 3 | Gain | - |
MRPL9 | - | - | - | - | 3 | Gain | - |
MRPS14 | - | - | - | - | 3 | Gain | - |
MRPS21 | - | - | - | - | 3 | Gain | - |
MSRB2 | - | - | - | - | 3 | Gain | - |
MSTO1 | - | - | - | - | 3 | Gain | - |
MT1HL1 | - | - | - | - | 3 | Gain | - |
MTIF3 | p.R115Q | Missense | SNP | 0.492 | 2 | - | - |
MTMR11 | - | - | - | - | 3 | Gain | - |
MTPAP | - | - | - | - | 3 | Gain | - |
MTR | - | - | - | - | 3 | Gain | - |
MTX1 | - | - | - | - | 3 | Gain | - |
MUC1 | - | - | - | - | 3 | Gain | - |
MUC3A | p.C128W | Missense | SNP | 0.204 | 2 | - | - |
MYBPH | - | - | - | - | 3 | Gain | - |
MYCN | p.A418T | Missense | SNP | 0.536 | 2 | - | - |
MYH6 | p.R1361H | Missense | SNP | 0.482 | 2 | - | - |
MYO3A | - | - | - | - | 3 | Gain | - |
MYOC | - | - | - | - | 3 | Gain | - |
MYOCOS | - | - | - | - | 3 | Gain | - |
MYOG | - | - | - | - | 3 | Gain | - |
NAV1 | p.D21G | Missense | SNP | 0.296 | 3 | Gain | - |
NAXE | - | - | - | - | 3 | Gain | - |
NBPF10 | - | - | - | - | 3 | Gain | - |
NBPF11 | - | - | - | - | 3 | Gain | - |
NBPF12 | - | - | - | - | 3 | Gain | - |
NBPF14 | - | - | - | - | 3 | Gain | - |
NBPF15 | - | - | - | - | 3 | Gain | - |
NBPF19 | - | - | - | - | 3 | Gain | - |
NBPF20 | - | - | - | - | 3 | Gain | - |
NBPF9 | - | - | - | - | 3 | Gain | - |
NCF2 | - | - | - | - | 3 | Gain | - |
NCSTN | p.I263T | Missense | SNP | 0.345 | 3 | Gain | - |
NDUFAF5 | p.V83A | Missense | SNP | 0.506 | 2 | - | - |
NDUFS2 | - | - | - | - | 3 | Gain | - |
NDUFS7 | p.Q26* | Nonsense | SNP | 0.217 | 2 | - | - |
NEBL | - | - | - | - | 3 | Gain | - |
NECTIN4 | - | - | - | - | 3 | Gain | - |
NEK2 | - | - | - | - | 3 | Gain | - |
NEK4 | - | - | - | - | 3 | Gain | - |
NEK7 | - | - | - | - | 3 | Gain | - |
NENF | - | - | - | - | 3 | Gain | - |
NES | - | - | - | - | 3 | Gain | - |
NET1 | - | - | - | - | 3 | Gain | - |
NEU2 | p.A236T | Missense | SNP | 0.560 | 2 | - | - |
NFASC | - | - | - | - | 3 | Gain | - |
NFKB2 | p.Y807H | Missense | SNP | 0.469 | 2 | - | - |
NHLH1 | - | - | - | - | 3 | Gain | - |
NID1 | - | - | - | - | 3 | Gain | - |
NID2 | p.S431L | Missense | SNP | 0.455 | 2 | - | - |
NIT1 | - | - | - | - | 3 | Gain | - |
NLRP3 | - | - | - | - | 3 | Gain | - |
NME7 | - | - | - | - | 3 | Gain | - |
NMNAT2 | - | - | - | - | 3 | Gain | - |
NMT2 | - | - | - | - | 3 | Gain | - |
NOS1AP | - | - | - | - | 3 | Gain | - |
NOTCH2NLA | - | - | - | - | 3 | Gain | - |
NPHS2 | - | - | - | - | 3 | Gain | - |
NPL | - | - | - | - | 3 | Gain | - |
NPR1 | - | - | - | - | 3 | Gain | - |
NR1I3 | - | - | - | - | 3 | Gain | - |
NR4A3 | p.A163V | Missense | SNP | 0.416 | 2 | - | - |
NR5A2 | - | - | - | - | 3 | Gain | - |
NRP1 | - | - | - | - | 3 | Gain | - |
NSL1 | - | - | - | - | 3 | Gain | - |
NSUN6 | - | - | - | - | 3 | Gain | - |
NTNG1 | - | - | - | - | 3 | Gain | - |
NTPCR | - | - | - | - | 3 | Gain | - |
NTRK1 | - | - | - | - | 3 | Gain | - |
NUAK2 | - | - | - | - | 3 | Gain | - |
NUCKS1 | - | - | - | - | 3 | Gain | - |
NUDT17 | - | - | - | - | 3 | Gain | - |
NUDT4B | - | - | - | - | 3 | Gain | - |
NUDT5 | - | - | - | - | 3 | Gain | - |
NUF2 | - | - | - | - | 3 | Gain | - |
NUMB | p.A548S | Missense | SNP | 0.371 | 2 | - | - |
NUP133 | - | - | - | - | 3 | Gain | - |
NUP210L | - | - | - | - | 3 | Gain | - |
NUPR2 | p.E6L | Missense | TNP | 0.500 | 2 | - | - |
NVL | - | - | - | - | 3 | Gain | - |
OAZ3 | - | - | - | - | 3 | Gain | - |
OBSCN | - | - | - | - | 3 | Gain | - |
OCLM | - | - | - | - | 3 | Gain | - |
ODR4 | - | - | - | - | 3 | Gain | - |
OLAH | - | - | - | - | 3 | Gain | - |
OLFM4 | - | - | - | - | 3 | Gain | - |
OLFML2B | - | - | - | - | 3 | Gain | - |
OPN3 | - | - | - | - | 3 | Gain | - |
OPTC | - | - | - | - | 3 | Gain | - |
OPTN | - | - | - | - | 3 | Gain | - |
OR10J1 | - | - | - | - | 3 | Gain | - |
OR10J3 | - | - | - | - | 3 | Gain | - |
OR10J5 | - | - | - | - | 3 | Gain | - |
OR10K1 | - | - | - | - | 3 | Gain | - |
OR10K2 | - | - | - | - | 3 | Gain | - |
OR10R2 | - | - | - | - | 3 | Gain | - |
OR10T2 | - | - | - | - | 3 | Gain | - |
OR10X1 | - | - | - | - | 3 | Gain | - |
OR10Z1 | - | - | - | - | 3 | Gain | - |
OR11L1 | - | - | - | - | 3 | Gain | - |
OR13G1 | - | - | - | - | 3 | Gain | - |
OR14A16 | - | - | - | - | 3 | Gain | - |
OR14A2 | - | - | - | - | 3 | Gain | - |
OR14C36 | - | - | - | - | 3 | Gain | - |
OR14I1 | - | - | - | - | 3 | Gain | - |
OR14K1 | - | - | - | - | 3 | Gain | - |
OR1C1 | - | - | - | - | 3 | Gain | - |
OR2AJ1 | - | - | - | - | 3 | Gain | - |
OR2AK2 | - | - | - | - | 3 | Gain | - |
OR2B11 | - | - | - | - | 3 | Gain | - |
OR2C3 | - | - | - | - | 3 | Gain | - |
OR2G2 | - | - | - | - | 3 | Gain | - |
OR2G3 | - | - | - | - | 3 | Gain | - |
OR2G6 | - | - | - | - | 3 | Gain | - |
OR2L13 | - | - | - | - | 3 | Gain | - |
OR2L2 | - | - | - | - | 3 | Gain | - |
OR2L3 | - | - | - | - | 3 | Gain | - |
OR2L5 | - | - | - | - | 3 | Gain | - |
OR2L8 | - | - | - | - | 3 | Gain | - |
OR2M2 | - | - | - | - | 3 | Gain | - |
OR2M3 | - | - | - | - | 3 | Gain | - |
OR2M4 | - | - | - | - | 3 | Gain | - |
OR2M5 | - | - | - | - | 3 | Gain | - |
OR2M7 | - | - | - | - | 3 | Gain | - |
OR2T1 | - | - | - | - | 3 | Gain | - |
OR2T10 | - | - | - | - | 3 | Gain | - |
OR2T11 | - | - | - | - | 3 | Gain | - |
OR2T12 | - | - | - | - | 3 | Gain | - |
OR2T2 | - | - | - | - | 3 | Gain | - |
OR2T27 | - | - | - | - | 3 | Gain | - |
OR2T29 | - | - | - | - | 3 | Gain | - |
OR2T3 | - | - | - | - | 3 | Gain | - |
OR2T33 | - | - | - | - | 3 | Gain | - |
OR2T34 | - | - | - | - | 3 | Gain | - |
OR2T35 | - | - | - | - | 3 | Gain | - |
OR2T4 | - | - | - | - | 3 | Gain | - |
OR2T5 | - | - | - | - | 3 | Gain | - |
OR2T6 | - | - | - | - | 3 | Gain | - |
OR2T8 | - | - | - | - | 3 | Gain | - |
OR2W3 | - | - | - | - | 3 | Gain | - |
OR5K1 | p.A242T | Missense | SNP | 0.477 | 2 | - | - |
OR5M1 | p.A188T | Missense | SNP | 0.532 | 2 | - | - |
OR6F1 | - | - | - | - | 3 | Gain | - |
OR6K2 | - | - | - | - | 3 | Gain | - |
OR6K3 | - | - | - | - | 3 | Gain | - |
OR6K6 | - | - | - | - | 3 | Gain | - |
OR6N1 | - | - | - | - | 3 | Gain | - |
OR6N2 | - | - | - | - | 3 | Gain | - |
OR6P1 | - | - | - | - | 3 | Gain | - |
OR6Y1 | - | - | - | - | 3 | Gain | - |
OR7A10 | p.H54Q | Missense | SNP | 0.463 | 2 | - | - |
OR9Q2 | p.T18A | Missense | SNP | 0.557 | 2 | - | - |
OTUD1 | - | - | - | - | 3 | Gain | - |
OTUD7B | - | - | - | - | 3 | Gain | - |
PAPPA2 | - | - | - | - | 3 | Gain | - |
PAQR6 | - | - | - | - | 3 | Gain | - |
PARD3 | - | - | - | - | 3 | Gain | - |
PARP1 | - | - | - | - | 3 | Gain | - |
PBX1 | - | - | - | - | 3 | Gain | - |
PBXIP1 | - | - | - | - | 3 | Gain | - |
PCDH15 | p.P1708S | Missense | SNP | 0.473 | 2 | - | - |
PCDH17 | - | - | - | - | 3 | Gain | - |
PCDH9 | - | - | - | - | 3 | Gain | - |
PCDHA3 | p.R583W | Missense | SNP | 0.490 | 2 | - | - |
PCDHB3 | p.S783T | Missense | SNP | 0.555 | 2 | - | - |
PCDHGA1 | p.V347G | Missense | SNP | 0.402 | 2 | - | - |
PCDHGA5 | p.R65C | Missense | SNP | 0.104 | 2 | - | - |
PCDHGB2 | p.V492I | Missense | SNP | 0.113 | 2 | - | - |
PCGF2 | p.I135V | Missense | SNP | 0.502 | 2 | - | - |
PCNX2 | - | - | - | - | 3 | Gain | - |
PCP4L1 | - | - | - | - | 3 | Gain | - |
PDC | - | - | - | - | 3 | Gain | - |
PDCD7 | p.R183C | Missense | SNP | 0.526 | 2 | - | - |
PDE4DIP | - | - | - | - | 3 | Gain | - |
PDSS1 | - | - | - | - | 3 | Gain | - |
PDZK1 | - | - | - | - | 3 | Gain | - |
PEA15 | - | - | - | - | 3 | Gain | - |
PEAK1 | p.V534A | Missense | SNP | 0.493 | 2 | - | - |
PEAR1 | - | - | - | - | 3 | Gain | - |
PEX11B | - | - | - | - | 3 | Gain | - |
PEX19 | - | - | - | - | 3 | Gain | - |
PFAS | p.Y8D | Missense | SNP | 0.524 | 2 | - | - |
PFDN2 | - | - | - | - | 3 | Gain | - |
PFKFB2 | - | - | - | - | 3 | Gain | - |
PFKFB3 | - | - | - | - | 3 | Gain | - |
PFKL | p.T38M | Missense | SNP | 0.523 | 2 | - | - |
PFKP | - | - | - | - | 3 | Gain | - |
PGBD2 | - | - | - | - | 3 | Gain | - |
PGBD5 | - | - | - | - | 3 | Gain | - |
PGLYRP3 | - | - | - | - | 3 | Gain | - |
PGLYRP4 | - | - | - | - | 3 | Gain | - |
PHLDA3 | - | - | - | - | 3 | Gain | - |
PHYH | - | - | - | - | 3 | Gain | - |
PI4KB | - | - | - | - | 3 | Gain | - |
PIAS3 | - | - | - | - | 3 | Gain | - |
PIGC | - | - | - | - | 3 | Gain | - |
PIGM | - | - | - | - | 3 | Gain | - |
PIGR | - | - | - | - | 3 | Gain | - |
PIK3C2B | - | - | - | - | 3 | Gain | - |
PIP4K2A | - | - | - | - | 3 | Gain | - |
PIP5K1A | - | - | - | - | 3 | Gain | - |
PITRM1 | - | - | - | - | 3 | Gain | - |
PITX2 | p.A34T | Missense | SNP | 0.556 | 2 | - | - |
PKLR | - | - | - | - | 3 | Gain | - |
PKP1 | - | - | - | - | 3 | Gain | - |
PLA2G4A | - | - | - | - | 3 | Gain | - |
PLD5 | - | - | - | - | 3 | Gain | - |
PLEC | p.M6I | Missense | SNP | 0.500 | 2 | - | - |
PLEKHA6 | - | - | - | - | 3 | Gain | - |
PLEKHO1 | - | - | - | - | 3 | Gain | - |
PLRG1 | p.A377D | Missense | SNP | 0.430 | 2 | - | - |
PLSCR2 | p.F269S | Missense | SNP | 0.429 | 2 | - | - |
PLXDC2 | - | - | - | - | 3 | Gain | - |
PLXNA2 | - | - | - | - | 3 | Gain | - |
PM20D1 | - | - | - | - | 3 | Gain | - |
PMF1 | - | - | - | - | 3 | Gain | - |
PMF1-BGLAP | - | - | - | - | 3 | Gain | - |
PMVK | - | - | - | - | 3 | Gain | - |
POGK | - | - | - | - | 3 | Gain | - |
POGZ | - | - | - | - | 3 | Gain | - |
POLE2 | p.K191Q | Missense | SNP | 0.496 | 2 | - | - |
POLR3C | - | - | - | - | 3 | Gain | - |
POLR3GL | - | - | - | - | 3 | Gain | - |
POM121L2 | p.L766P | Missense | SNP | 0.476 | 2 | - | - |
PORCN | p.R143W | Missense | SNP | 0.465 | ND | ND | - |
POU2F1 | - | - | - | - | 3 | Gain | - |
PPFIA4 | - | - | - | - | 3 | Gain | - |
PPOX | - | - | - | - | 3 | Gain | - |
PPP1R12B | - | - | - | - | 3 | Gain | - |
PPP1R15B | - | - | - | - | 3 | Gain | - |
PPP2R5A | - | - | - | - | 3 | Gain | - |
PPP3CA | p.I64L | Missense | SNP | 0.500 | 2 | - | - |
PPP5C | p.K97E | Missense | SNP | 0.497 | 2 | - | - |
PRAG1 | - | - | - | - | 1 | Loss | - |
PRB2 | p.P247Q | Missense | SNP | 0.385 | 2 | - | - |
PRCC | - | - | - | - | 3 | Gain | - |
PRDM9 | - | - | - | - | 3 | Gain | - |
PRDX6 | - | - | - | - | 3 | Gain | - |
PRELP | - | - | - | - | 3 | Gain | - |
PRG4 | - | - | - | - | 3 | Gain | - |
PRKAB2 | - | - | - | - | 3 | Gain | - |
PRKCQ | - | - | - | - | 3 | Gain | - |
PRMT6 | - | - | - | - | 3 | Gain | - |
PROKR1 | p.T188M | Missense | SNP | 0.481 | 2 | - | - |
PROSER2 | - | - | - | - | 3 | Gain | - |
PROX1 | - | - | - | - | 3 | Gain | - |
PRPF18 | - | - | - | - | 3 | Gain | - |
PRPF3 | - | - | - | - | 3 | Gain | - |
PRR23D1 | - | - | - | - | 1 | Loss | - |
PRR23D2 | - | - | - | - | 1 | Loss | - |
PRR26 | - | - | - | - | 3 | Gain | - |
PRR36 | p.R1263G | Missense | SNP | 0.517 | 2 | - | - |
PRR9 | - | - | - | - | 3 | Gain | - |
PRRC2C | - | - | - | - | 3 | Gain | - |
PRRX1 | - | - | - | - | 3 | Gain | - |
PRSS38 | - | - | - | - | 3 | Gain | - |
PRTFDC1 | - | - | - | - | 3 | Gain | - |
PRUNE1 | - | - | - | - | 3 | Gain | - |
PSEN2 | - | - | - | - | 3 | Gain | - |
PSMB4 | - | - | - | - | 3 | Gain | - |
PSMD4 | - | - | - | - | 3 | Gain | - |
PTCHD3 | - | - | - | - | 3 | Gain | - |
PTEN | p.D92Y | Missense | SNP | 1.000 | 2 | - | - |
PTER | - | - | - | - | 3 | Gain | - |
PTF1A | - | - | - | - | 3 | Gain | - |
PTGS2 | - | - | - | - | 3 | Gain | - |
PTPN14 | - | - | - | - | 3 | Gain | - |
PTPN7 | - | - | - | - | 3 | Gain | - |
PTPRC | - | - | - | - | 3 | Gain | - |
PTPRS | - | - | - | - | 1 | Loss | - |
PYCR2 | - | - | - | - | 3 | Gain | - |
PYGO2 | - | - | - | - | 3 | Gain | - |
PYHIN1 | - | - | - | - | 3 | Gain | - |
QSOX1 | - | - | - | - | 3 | Gain | - |
RAB13 | - | - | - | - | 3 | Gain | - |
RAB18 | - | - | - | - | 3 | Gain | - |
RAB25 | - | - | - | - | 3 | Gain | - |
RAB29 | - | - | - | - | 3 | Gain | - |
RAB3GAP2 | - | - | - | - | 3 | Gain | - |
RAB4A | - | - | - | - | 3 | Gain | - |
RABGAP1L | - | - | - | - | 3 | Gain | - |
RABIF | - | - | - | - | 3 | Gain | - |
RACK1 | p.A238T | Missense | SNP | 0.492 | 2 | - | - |
RALGPS2 | p.T482I | Missense | SNP | 0.264 | 3 | Gain | - |
RASA2 | p.R310* | Nonsense | SNP | 0.468 | 2 | - | - |
RASAL2 | - | - | - | - | 3 | Gain | - |
RASSF5 | - | - | - | - | 3 | Gain | - |
RBBP5 | - | - | - | - | 3 | Gain | - |
RBM17 | p.A222T | Missense | SNP | 0.282 | 3 | Gain | - |
RBM34 | - | - | - | - | 3 | Gain | - |
RBM8A | - | - | - | - | 3 | Gain | - |
RC3H1 | - | - | - | - | 3 | Gain | - |
RCN1 | p.D277E | Missense | SNP | 0.542 | 2 | - | - |
RCOR3 | - | - | - | - | 3 | Gain | - |
RCSD1 | - | - | - | - | 3 | Gain | - |
RD3 | - | - | - | - | 3 | Gain | - |
RDM1 | p.T97I | Missense | SNP | 0.554 | 2 | - | - |
RELN | p.R2292H | Missense | SNP | 0.432 | 2 | - | - |
REN | - | - | - | - | 3 | Gain | - |
RENBP | p.R103W | Missense | SNP | 0.358 | ND | ND | - |
RET | p.E512G | Missense | SNP | 0.488 | 2 | - | - |
RFX5 | - | - | - | - | 3 | Gain | - |
RGL1 | - | - | - | - | 3 | Gain | - |
RGMB | - | - | - | - | 3 | Gain | - |
RGPD1 | - | - | - | - | 0 | Del | - |
RGPD2 | - | - | - | - | 0 | Del | - |
RGS1 | - | - | - | - | 3 | Gain | - |
RGS13 | - | - | - | - | 3 | Gain | - |
RGS16 | - | - | - | - | 3 | Gain | - |
RGS18 | - | - | - | - | 3 | Gain | - |
RGS2 | - | - | - | - | 3 | Gain | - |
RGS21 | - | - | - | - | 3 | Gain | - |
RGS4 | - | - | - | - | 3 | Gain | - |
RGS5 | - | - | - | - | 3 | Gain | - |
RGS7 | - | - | - | - | 3 | Gain | - |
RGS8 | - | - | - | - | 3 | Gain | - |
RGSL1 | - | - | - | - | 3 | Gain | - |
RHBG | - | - | - | - | 3 | Gain | - |
RHEX | - | - | - | - | 3 | Gain | - |
RHOU | - | - | - | - | 3 | Gain | - |
RIF1 | p.R2222W | Missense | SNP | 0.476 | 2 | - | - |
RIIAD1 | - | - | - | - | 3 | Gain | - |
RIT1 | - | - | - | - | 3 | Gain | - |
RNASEL | - | - | - | - | 3 | Gain | - |
RNASET2 | p.P220R | Missense | SNP | 0.534 | 2 | - | - |
RNF115 | - | - | - | - | 3 | Gain | - |
RNF187 | - | - | - | - | 3 | Gain | - |
RNF2 | - | - | - | - | 3 | Gain | - |
RNPC3 | - | - | - | - | 3 | Gain | - |
RNPEP | - | - | - | - | 3 | Gain | - |
ROBO1 | p.I648T | Missense | SNP | 0.533 | 2 | - | - |
ROBO3 | p.P1163H | Missense | SNP | 0.491 | 2 | - | - |
RORC | - | - | - | - | 3 | Gain | - |
RP11-240B13.2 | p.A196V | Missense | SNP | 0.520 | ND | ND | - |
RP11-286H14.4 | p.L238F | Missense | SNP | 0.463 | ND | ND | - |
RPL10L | p.P16S | Missense | SNP | 0.502 | 2 | - | - |
RPP38 | - | - | - | - | 3 | Gain | - |
RPRD2 | - | - | - | - | 3 | Gain | - |
RPS27 | - | - | - | - | 3 | Gain | - |
RPS6KC1 | - | - | - | - | 3 | Gain | - |
RPTN | - | - | - | - | 3 | Gain | - |
RRNAD1 | - | - | - | - | 3 | Gain | - |
RRP12 | p.L264F | Missense | SNP | 1.000 | 2 | - | - |
RRP15 | - | - | - | - | 3 | Gain | - |
RSU1 | - | - | - | - | 3 | Gain | - |
RTF1 | p.R74Q | Missense | SNP | 0.395 | 2 | - | - |
RUSC1 | - | - | - | - | 3 | Gain | - |
RXFP4 | - | - | - | - | 3 | Gain | - |
RXRG | - | - | - | - | 3 | Gain | - |
RYR2 | p.V3945A | Missense | SNP | 0.299 | 3 | Gain | - |
RYR3 | p.A1825T | Missense | SNP | 0.389 | 2 | - | - |
S100A1 | - | - | - | - | 3 | Gain | - |
S100A10 | - | - | - | - | 3 | Gain | - |
S100A11 | - | - | - | - | 3 | Gain | - |
S100A12 | - | - | - | - | 3 | Gain | - |
S100A13 | - | - | - | - | 3 | Gain | - |
S100A14 | - | - | - | - | 3 | Gain | - |
S100A16 | - | - | - | - | 3 | Gain | - |
S100A2 | - | - | - | - | 3 | Gain | - |
S100A3 | - | - | - | - | 3 | Gain | - |
S100A4 | - | - | - | - | 3 | Gain | - |
S100A5 | - | - | - | - | 3 | Gain | - |
S100A6 | - | - | - | - | 3 | Gain | - |
S100A7 | - | - | - | - | 3 | Gain | - |
S100A7A | - | - | - | - | 3 | Gain | - |
S100A7L2 | - | - | - | - | 3 | Gain | - |
S100A8 | - | - | - | - | 3 | Gain | - |
S100A9 | - | - | - | - | 3 | Gain | - |
SACS | p.R3170* | Nonsense | SNP | 0.543 | 2 | - | - |
SAFB | p.A653V | Missense | SNP | 0.534 | 2 | - | - |
SBF2 | p.R1049G | Missense | SNP | 0.515 | 2 | - | - |
SCAF1 | p.I701V | Missense | SNP | 0.402 | 2 | - | - |
SCAMP3 | - | - | - | - | 3 | Gain | - |
SCCPDH | - | - | - | - | 3 | Gain | - |
SCN3A | p.M1496I | Missense | SNP | 0.456 | 2 | - | - |
SCNM1 | - | - | - | - | 3 | Gain | - |
SCYL3 | - | - | - | - | 3 | Gain | - |
SDCCAG8 | - | - | - | - | 3 | Gain | - |
SDE2 | - | - | - | - | 3 | Gain | - |
SDHC | - | - | - | - | 3 | Gain | - |
SEC16B | - | - | - | - | 3 | Gain | - |
SEC61A2 | - | - | - | - | 3 | Gain | - |
SELE | - | - | - | - | 3 | Gain | - |
SELENBP1 | - | - | - | - | 3 | Gain | - |
SELL | - | - | - | - | 3 | Gain | - |
SELP | - | - | - | - | 3 | Gain | - |
SEMA3E | p.R162I | Missense | SNP | 0.622 | 2 | - | - |
SEMA4A | - | - | - | - | 3 | Gain | - |
SEMA6C | - | - | - | - | 3 | Gain | - |
SEPHS1 | - | - | - | - | 3 | Gain | - |
SERPINC1 | - | - | - | - | 3 | Gain | - |
SERTAD4 | - | - | - | - | 3 | Gain | - |
SETD1A | p.P265S | Missense | SNP | 0.465 | 2 | - | - |
SETDB1 | - | - | - | - | 3 | Gain | - |
SF3B3 | p.M583I p.S719A | Missense Missense | SNP SNP | 0.508 0.531 | 2 | - | - |
SF3B4 | - | - | - | - | 3 | Gain | - |
SFMBT2 | - | - | - | - | 3 | Gain | - |
SFT2D2 | - | - | - | - | 3 | Gain | - |
SGK223 | p.R1211L | Missense | SNP | 0.494 | ND | ND | - |
SH2D1B | - | - | - | - | 3 | Gain | - |
SH2D2A | - | - | - | - | 3 | Gain | - |
SH3BP5L | - | - | - | - | 3 | Gain | - |
SHC1 | - | - | - | - | 3 | Gain | - |
SHCBP1L | - | - | - | - | 3 | Gain | - |
SHE | - | - | - | - | 3 | Gain | - |
SHISA4 | - | - | - | - | 3 | Gain | - |
SIPA1L2 | - | - | - | - | 3 | Gain | - |
SIX3 | p.G47S | Missense | SNP | 0.640 | 2 | - | - |
SKIDA1 | - | - | - | - | 3 | Gain | - |
SLAMF1 | - | - | - | - | 3 | Gain | - |
SLAMF6 | - | - | - | - | 3 | Gain | - |
SLAMF7 | - | - | - | - | 3 | Gain | - |
SLAMF8 | - | - | - | - | 3 | Gain | - |
SLAMF9 | - | - | - | - | 3 | Gain | - |
SLC19A2 | - | - | - | - | 3 | Gain | - |
SLC25A44 | - | - | - | - | 3 | Gain | - |
SLC26A9 | - | - | - | - | 3 | Gain | - |
SLC27A3 | - | - | - | - | 3 | Gain | - |
SLC30A1 | - | - | - | - | 3 | Gain | - |
SLC30A10 | - | - | - | - | 3 | Gain | - |
SLC32A1 | p.T434M | Missense | SNP | 0.511 | 2 | - | - |
SLC35F3 | - | - | - | - | 3 | Gain | - |
SLC35G3 | p.A196T | Missense | SNP | 0.480 | 2 | - | - |
SLC39A1 | - | - | - | - | 3 | Gain | - |
SLC39A12 | - | - | - | - | 3 | Gain | - |
SLC39A7 | p.L24M | Missense | SNP | 0.459 | 2 | - | - |
SLC41A1 | - | - | - | - | 3 | Gain | - |
SLC45A3 | - | - | - | - | 3 | Gain | - |
SLC47A1 | p.V471E | Missense | SNP | 0.624 | 2 | - | - |
SLC50A1 | - | - | - | - | 3 | Gain | - |
SLC9C2 | - | - | - | - | 3 | Gain | - |
SLITRK1 | - | - | - | - | 3 | Gain | - |
SLITRK5 | - | - | - | - | 3 | Gain | - |
SLITRK6 | - | - | - | - | 3 | Gain | - |
SLX4 | p.R1103H p.L472S | Missense Missense | SNP SNP | 0.492 0.517 | 2 | - | - |
SMCP | - | - | - | - | 3 | Gain | - |
SMG5 | - | - | - | - | 3 | Gain | - |
SMG7 | - | - | - | - | 3 | Gain | - |
SMG8 | p.A510V | Missense | SNP | 0.549 | 2 | - | - |
SMYD2 | - | - | - | - | 3 | Gain | - |
SMYD3 | - | - | - | - | 3 | Gain | - |
SNAP47 | - | - | - | - | 3 | Gain | - |
SNAPC3 | p.C383Y | Missense | SNP | 0.543 | 2 | - | - |
SNAPIN | - | - | - | - | 3 | Gain | - |
SNHG28 | - | - | - | - | 3 | Gain | - |
SNRPE | - | - | - | - | 3 | Gain | - |
SNX27 | - | - | - | - | 3 | Gain | - |
SNX33 | p.R191H p.R569H | Missense Missense | SNP SNP | 0.514 0.464 | 2 | - | - |
SOAT1 | - | - | - | - | 3 | Gain | - |
SORCS1 | p.Y623C | Missense | SNP | 0.564 | 2 | - | - |
SOX13 | - | - | - | - | 3 | Gain | - |
SPAG11A | - | - | - | - | 1 | Loss | - |
SPAG11B | - | - | - | - | 1 | Loss | - |
SPAG6 | - | - | - | - | 3 | Gain | - |
SPATA17 | - | - | - | - | 3 | Gain | - |
SPATA31D3 | - | - | - | - | 1 | Loss | - |
SPATA31D4 | - | - | - | - | 1 | Loss | - |
SPATA45 | - | - | - | - | 3 | Gain | - |
SPATA46 | - | - | - | - | 3 | Gain | - |
SPCS1 | - | - | - | - | 3 | Gain | - |
SPHAR | - | - | - | - | 3 | Gain | - |
SPOCD1 | - | - | - | - | 1 | Loss | - |
SPRR1A | - | - | - | - | 3 | Gain | - |
SPRR1B | - | - | - | - | 3 | Gain | - |
SPRR3 | - | - | - | - | 3 | Gain | - |
SPRR4 | - | - | - | - | 3 | Gain | - |
SPRTN | - | - | - | - | 3 | Gain | - |
SPTA1 | - | - | - | - | 3 | Gain | - |
SRGAP2 | - | - | - | - | 3 | Gain | - |
SRGAP2B | - | - | - | - | 3 | Gain | - |
SRP9 | - | - | - | - | 3 | Gain | - |
SSR2 | - | - | - | - | 3 | Gain | - |
SSR4 | p.A9T | Missense | SNP | 0.468 | ND | ND | - |
ST3GAL1 | p.D164G | Missense | SNP | 0.443 | 2 | - | - |
ST8SIA4 | - | - | - | - | 3 | Gain | - |
ST8SIA6 | - | - | - | - | 3 | Gain | - |
STAM | - | - | - | - | 3 | Gain | - |
STUM | - | - | - | - | 3 | Gain | - |
STX6 | - | - | - | - | 3 | Gain | - |
SUCO | - | - | - | - | 3 | Gain | - |
SUSD4 | p.A58T | Missense | SNP | 0.377 | 3 | Gain | - |
SUV39H2 | - | - | - | - | 3 | Gain | - |
SV2A | - | - | - | - | 3 | Gain | - |
SVIL | - | - | - | - | 3 | Gain | - |
SWT1 | - | - | - | - | 3 | Gain | - |
SYT11 | - | - | - | - | 3 | Gain | - |
SYT14 | - | - | - | - | 3 | Gain | - |
SYT2 | - | - | - | - | 3 | Gain | - |
TADA1 | - | - | - | - | 3 | Gain | - |
TAF1A | - | - | - | - | 3 | Gain | - |
TAF3 | - | - | - | - | 3 | Gain | - |
TAF5L | - | - | - | - | 3 | Gain | - |
TAGLN2 | - | - | - | - | 3 | Gain | - |
TARBP1 | - | - | - | - | 3 | Gain | - |
TARS2 | - | - | - | - | 3 | Gain | - |
TATDN3 | - | - | - | - | 3 | Gain | - |
TBCE | - | - | - | - | 3 | Gain | - |
TBX19 | - | - | - | - | 3 | Gain | - |
TBX3 | p.P48L | Missense | SNP | 0.583 | 2 | - | - |
TBX6 | p.E40K | Missense | SNP | 0.452 | 2 | - | - |
TCHH | - | - | - | - | 3 | Gain | - |
TCHHL1 | - | - | - | - | 3 | Gain | - |
TDRD10 | - | - | - | - | 3 | Gain | - |
TDRD5 | - | - | - | - | 3 | Gain | - |
TDRKH | - | - | - | - | 3 | Gain | - |
TECPR1 | p.W77L | Missense | SNP | 0.545 | 2 | - | - |
TECTA | p.P973S | Missense | SNP | 0.503 | 2 | - | - |
TEDDM1 | - | - | - | - | 3 | Gain | - |
TEX35 | - | - | - | - | 3 | Gain | - |
TEX50 | - | - | - | - | 3 | Gain | - |
TFB2M | - | - | - | - | 3 | Gain | - |
TGFB2 | - | - | - | - | 3 | Gain | - |
TGM4 | p.T82M | Missense | SNP | 0.511 | 2 | - | - |
THBS3 | - | - | - | - | 3 | Gain | - |
THEM4 | - | - | - | - | 3 | Gain | - |
THEM5 | - | - | - | - | 3 | Gain | - |
THNSL1 | - | - | - | - | 3 | Gain | - |
TIAL1 | p.R186* | Nonsense | SNP | 0.474 | 2 | - | - |
TIE1 | p.R112L | Missense | SNP | 0.440 | 2 | - | - |
TIMM17A | - | - | - | - | 3 | Gain | - |
TIMM44 | p.A72V | Missense | SNP | 0.519 | 2 | - | - |
TIPRL | - | - | - | - | 3 | Gain | - |
TLK2 | p.N329K | Missense | SNP | 0.518 | 2 | - | - |
TLN1 | p.E2156A | Missense | SNP | 0.510 | 2 | - | - |
TLR5 | - | - | - | - | 3 | Gain | - |
TMCC2 | - | - | - | - | 3 | Gain | - |
TMCO1 | - | - | - | - | 3 | Gain | - |
TMEM181 | p.L520I | Missense | SNP | 0.482 | 2 | - | - |
TMEM183A | - | - | - | - | 3 | Gain | - |
TMEM206 | - | - | - | - | 3 | Gain | - |
TMEM236 | - | - | - | - | 3 | Gain | - |
TMEM63A | - | - | - | - | 3 | Gain | - |
TMEM79 | - | - | - | - | 3 | Gain | - |
TMEM81 | - | - | - | - | 3 | Gain | - |
TMEM9 | - | - | - | - | 3 | Gain | - |
TMOD4 | - | - | - | - | 3 | Gain | - |
TMX3 | p.X34_splice | Splice_Site | SNP | 0.381 | 2 | - | - |
TNFAIP8L2 | - | - | - | - | 3 | Gain | - |
TNFSF18 | p.C61Y | Missense | SNP | 0.300 | 3 | Gain | - |
TNFSF4 | - | - | - | - | 3 | Gain | - |
TNIP2 | p.C408* | Nonsense | SNP | 0.429 | 2 | - | - |
TNN | - | - | - | - | 3 | Gain | - |
TNNI1 | - | - | - | - | 3 | Gain | - |
TNNT2 | - | - | - | - | 3 | Gain | - |
TNR | - | - | - | - | 3 | Gain | - |
TOMM20 | - | - | - | - | 3 | Gain | - |
TOMM40L | - | - | - | - | 3 | Gain | - |
TOR1AIP1 | - | - | - | - | 3 | Gain | - |
TOR1AIP2 | - | - | - | - | 3 | Gain | - |
TOR3A | - | - | - | - | 3 | Gain | - |
TP53BP2 | - | - | - | - | 3 | Gain | - |
TP73 | p.D228G | Missense | SNP | 0.573 | 2 | - | - |
TPM3 | - | - | - | - | 3 | Gain | - |
TPM4 | p.A239V | Missense | SNP | 0.477 | 2 | - | - |
TPR | - | - | - | - | 3 | Gain | - |
TRAF3IP3 | - | - | - | - | 3 | Gain | - |
TRAF5 | - | - | - | - | 3 | Gain | - |
TRDMT1 | - | - | - | - | 3 | Gain | - |
TRIM11 | - | - | - | - | 3 | Gain | - |
TRIM15 | p.A189V | Missense | SNP | 0.455 | 2 | - | - |
TRIM17 | - | - | - | - | 3 | Gain | - |
TRIM46 | - | - | - | - | 3 | Gain | - |
TRIM58 | - | - | - | - | 3 | Gain | - |
TRIM67 | - | - | - | - | 3 | Gain | - |
TRIM77 | p.H386Q | Missense | SNP | 0.494 | 2 | - | - |
TRMT10C | p.N31S | Missense | SNP | 0.454 | 2 | - | - |
TRMT1L | - | - | - | - | 3 | Gain | - |
TROVE2 | - | - | - | - | 3 | Gain | - |
TRPM8 | p.R829* | Nonsense | SNP | 0.458 | 2 | - | - |
TSACC | - | - | - | - | 3 | Gain | - |
TSEN15 | - | - | - | - | 3 | Gain | - |
TSNAX | - | - | - | - | 3 | Gain | - |
TSNAX-DISC1 | - | - | - | - | 3 | Gain | - |
TSPAN19 | p.A206T | Missense | SNP | 0.287 | 2 | - | - |
TSSC1 | p.I223T | Missense | SNP | 0.579 | ND | ND | - |
TSTD1 | - | - | - | - | 3 | Gain | - |
TTC13 | - | - | - | - | 3 | Gain | - |
TTC24 | - | - | - | - | 3 | Gain | - |
TUBAL3 | - | - | - | - | 3 | Gain | - |
TUBB4B | p.Y200* | Nonsense | SNP | 0.477 | 2 | - | - |
TUBB8 | - | - | - | - | 3 | Gain | - |
TUFT1 | - | - | - | - | 3 | Gain | - |
TVP23A | p.M173K | Missense | SNP | 0.503 | 2 | - | - |
TXNIP | - | - | - | - | 3 | Gain | - |
U2SURP | p.Q869* | Nonsense | SNP | 0.411 | 2 | - | - |
UAP1 | - | - | - | - | 3 | Gain | - |
UBAP2L | - | - | - | - | 3 | Gain | - |
UBE2Q1 | - | - | - | - | 3 | Gain | - |
UBE2T | - | - | - | - | 3 | Gain | - |
UBQLN4 | - | - | - | - | 3 | Gain | - |
UBR4 | - | - | - | - | 1 | Loss | - |
UCHL5 | - | - | - | - | 3 | Gain | - |
UCK2 | - | - | - | - | 3 | Gain | - |
UCMA | - | - | - | - | 3 | Gain | - |
UCN3 | - | - | - | - | 3 | Gain | - |
UFC1 | - | - | - | - | 3 | Gain | - |
UHMK1 | - | - | - | - | 3 | Gain | - |
UNC80 | p.E410G | Missense | SNP | 0.510 | 2 | - | - |
UPF2 | - | - | - | - | 3 | Gain | - |
URB2 | - | - | - | - | 3 | Gain | - |
USF1 | - | - | - | - | 3 | Gain | - |
USF3 | p.Q1561* | Nonsense | SNP | 0.512 | 2 | - | - |
USH2A | - | - | - | - | 3 | Gain | - |
USP17L1 | - | - | - | - | 1 | Loss | - |
USP17L3 | - | - | - | - | 1 | Loss | - |
USP17L4 | - | - | - | - | 1 | Loss | - |
USP17L8 | - | - | - | - | 1 | Loss | - |
USP20 | p.L257P | Missense | SNP | 0.461 | 2 | - | - |
USP21 | - | - | - | - | 3 | Gain | - |
USP42 | p.E841D | Missense | SNP | 0.476 | 2 | - | - |
USP54 | p.M865T | Missense | SNP | 0.456 | 2 | - | - |
USP6NL | - | - | - | - | 3 | Gain | - |
UTP25 | - | - | - | - | 3 | Gain | - |
VAMP4 | - | - | - | - | 3 | Gain | - |
VANGL2 | - | - | - | - | 3 | Gain | - |
VASH2 | - | - | - | - | 3 | Gain | - |
VAV3 | - | - | - | - | 3 | Gain | - |
VHLL | - | - | - | - | 3 | Gain | - |
VIM | - | - | - | - | 3 | Gain | - |
VPS45 | - | - | - | - | 3 | Gain | - |
VPS72 | - | - | - | - | 3 | Gain | - |
VSIG8 | - | - | - | - | 3 | Gain | - |
WAC | - | - | - | - | 3 | Gain | - |
WDR26 | - | - | - | - | 3 | Gain | - |
WDR37 | - | - | - | - | 3 | Gain | - |
WDR64 | - | - | - | - | 3 | Gain | - |
WDR81 | p.S1759N | Missense | SNP | 0.517 | 2 | - | - |
WLS | p.I340V | Missense | SNP | 0.587 | 2 | - | - |
WNT3A | - | - | - | - | 3 | Gain | - |
WNT9A | - | - | - | - | 3 | Gain | - |
XCL1 | - | - | - | - | 3 | Gain | - |
XCL2 | - | - | - | - | 3 | Gain | - |
XPO4 | p.H514Q | Missense | SNP | 0.500 | 2 | - | - |
XPR1 | - | - | - | - | 3 | Gain | - |
YAP1 | p.P129T | Missense | SNP | 0.502 | 2 | - | - |
YME1L1 | - | - | - | - | 3 | Gain | - |
YOD1 | - | - | - | - | 3 | Gain | - |
YY1AP1 | - | - | - | - | 3 | Gain | - |
ZBED4 | p.R935H | Missense | SNP | 0.530 | 2 | - | - |
ZBED6 | - | - | - | - | 3 | Gain | - |
ZBTB18 | - | - | - | - | 3 | Gain | - |
ZBTB37 | - | - | - | - | 3 | Gain | - |
ZBTB41 | - | - | - | - | 3 | Gain | - |
ZBTB48 | p.R485H | Missense | SNP | 0.498 | 2 | - | - |
ZBTB7A | p.T403N | Missense | SNP | 0.492 | 2 | - | - |
ZBTB7B | - | - | - | - | 3 | Gain | - |
ZC3H11A | - | - | - | - | 3 | Gain | - |
ZDHHC8 | p.R113C | Missense | SNP | 0.567 | 2 | - | - |
ZEB1 | - | - | - | - | 3 | Gain | - |
ZFP92 | p.R339W | Missense | SNP | 0.405 | ND | ND | - |
ZMYND11 | - | - | - | - | 3 | Gain | - |
ZNF124 | - | - | - | - | 3 | Gain | - |
ZNF135 | p.R538* | Nonsense | SNP | 0.522 | 2 | - | - |
ZNF248 | - | - | - | - | 3 | Gain | - |
ZNF25 | - | - | - | - | 3 | Gain | - |
ZNF281 | - | - | - | - | 3 | Gain | - |
ZNF33A | - | - | - | - | 3 | Gain | - |
ZNF37A | - | - | - | - | 3 | Gain | - |
ZNF438 | - | - | - | - | 3 | Gain | - |
ZNF468 | p.R256Q | Missense | SNP | 0.456 | 2 | - | - |
ZNF496 | - | - | - | - | 3 | Gain | - |
ZNF648 | - | - | - | - | 3 | Gain | - |
ZNF669 | - | - | - | - | 3 | Gain | - |
ZNF670 | - | - | - | - | 3 | Gain | - |
ZNF670-ZNF695 | - | - | - | - | 3 | Gain | - |
ZNF672 | p.G175S | Missense | SNP | 0.342 | 3 | Gain | - |
ZNF678 | - | - | - | - | 3 | Gain | - |
ZNF687 | - | - | - | - | 3 | Gain | - |
ZNF688 | p.R190H | Missense | SNP | 0.481 | 2 | - | - |
ZNF692 | - | - | - | - | 3 | Gain | - |
ZNF695 | - | - | - | - | 3 | Gain | - |
ZP4 | - | - | - | - | 3 | Gain | - |
ZSCAN18 | p.G548S | Missense | SNP | 0.465 | 2 | - | - |