Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AANAT | p.G193D | Missense | SNP | 0.506 | 2 | - | - |
AARD | - | - | - | - | 3 | Gain | - |
AARS | p.G344D | Missense | SNP | 0.636 | 2 | - | - |
AASDH | p.A353V | Missense | SNP | 0.533 | 2 | - | - |
ABCA13 | p.L585P | Missense | SNP | 0.421 | 2 | - | - |
ABCA7 | p.Q1069R | Missense | SNP | 0.548 | 2 | - | - |
ABCA8 | p.L1168* | Frame_Shift_Del | DEL | 0.101 | 2 | - | - |
ABCB10 | - | - | - | - | 3 | Gain | - |
ABCB4 | p.S339Qfs*3 | Frame_Shift_Del | DEL | 0.528 | 2 | - | - |
ABCC2 | p.K297Rfs*14 | Frame_Shift_Del | DEL | 0.538 | 2 | - | - |
ABCE1 | p.M357Wfs*6 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
ABCF2 | p.M496I | Missense | SNP | 0.422 | 2 | - | - |
ABHD16A | p.S6G | Missense | SNP | 0.505 | 2 | - | - |
ABHD2 | p.Y256C | Missense | SNP | 0.473 | 2 | - | - |
ABHD8 | p.Y354C | Missense | SNP | 0.455 | 2 | - | - |
ABL2 | - | - | - | - | 3 | Gain | - |
ABLIM1 | p.V259A | Missense | SNP | 0.517 | 2 | - | - |
ABRA | - | - | - | - | 3 | Gain | - |
ABTB1 | p.E252Sfs*102 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
AC004381.6 | p.N410Tfs*14 | Frame_Shift_Del | DEL | 0.475 | ND | ND | - |
AC009879.2 | - | - | - | - | 3 | Gain | - |
AC009879.3 | - | - | - | - | 3 | Gain | - |
AC012213.5 | - | - | - | - | 3 | Gain | - |
AC013461.1 | p.M459Cfs*12 | Frame_Shift_Del | DEL | 0.558 | ND | ND | - |
AC022826.2 | - | - | - | - | 3 | Gain | - |
AC036214.3 | - | - | - | - | 3 | Gain | - |
AC092017.3 | - | - | - | - | 3 | Gain | - |
AC100868.1 | - | - | - | - | 3 | Gain | - |
AC138696.1 | - | - | - | - | 3 | Gain | - |
AC233992.2 | - | - | - | - | 3 | Gain | - |
AC239799.1 | - | - | - | - | 3 | Gain | - |
AC243547.3 | - | - | - | - | 3 | Gain | - |
AC243756.1 | - | - | - | - | 3 | Gain | - |
ACAN | p.V41I p.T590A p.A2161V | Missense Missense Missense | SNP SNP SNP | 0.508 0.428 0.539 | 2 | - | - |
ACBD3 | p.R190Gfs*43 | Frame_Shift_Del | DEL | 0.297 | 3 | Gain | - |
ACBD6 | - | - | - | - | 3 | Gain | - |
ACKR1 | - | - | - | - | 3 | Gain | - |
ACP6 | - | - | - | - | 3 | Gain | - |
ACTA1 | - | - | - | - | 3 | Gain | - |
ACTBL2 | p.R211* | Nonsense | SNP | 0.479 | 2 | - | - |
ACTL7A | p.L23Cfs*11 | Frame_Shift_Del | DEL | 0.531 | 2 | - | - |
ACTN2 | p.R89W p.P566L | Missense Missense | SNP SNP | 0.597 0.356 | 3 | Gain | - |
ADAM15 | - | - | - | - | 3 | Gain | - |
ADAM22 | p.D618N | Missense | SNP | 0.510 | 2 | - | - |
ADAM23 | p.A67Lfs*102 p.R45H | Frame_Shift_Del Missense | DEL SNP | 0.489 0.487 | 2 | - | - |
ADAM30 | p.S282Kfs*21 | Frame_Shift_Ins | INS | 0.256 | 2 | - | - |
ADAMTS12 | p.L138Sfs*26 p.A1565V | Frame_Shift_Del Missense | DEL SNP | 0.455 0.533 | 2 | - | - |
ADAMTS16 | p.P140L | Missense | SNP | 0.053 | 2 | - | - |
ADAMTS3 | p.L1012R | Missense | SNP | 0.553 | 2 | - | - |
ADAMTS4 | - | - | - | - | 3 | Gain | - |
ADAMTS8 | p.D840Tfs*18 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
ADAMTSL4 | p.G780Vfs*62 | Frame_Shift_Del | DEL | 0.940 | 3 | Gain | - |
ADAR | - | - | - | - | 3 | Gain | - |
ADCK5 | - | - | - | - | 3 | Gain | - |
ADCY10 | - | - | - | - | 3 | Gain | - |
ADCY8 | - | - | - | - | 3 | Gain | - |
ADD1 | p.F185Lfs*8 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
ADGRA1 | p.A63T | Missense | SNP | 0.394 | 2 | - | - |
ADGRB1 | p.R547C | Missense | SNP | 0.311 | 3 | Gain | - |
ADHFE1 | - | - | - | - | 3 | Gain | - |
ADIPOR1 | - | - | - | - | 3 | Gain | - |
ADORA1 | - | - | - | - | 3 | Gain | - |
ADPRHL1 | p.A497V | Missense | SNP | 0.492 | 2 | - | - |
ADRA1B | p.R148C | Missense | SNP | 0.471 | 2 | - | - |
ADRA2C | p.R167H | Missense | SNP | 0.438 | 2 | - | - |
ADRB3 | p.R179H | Missense | SNP | 0.442 | 2 | - | - |
ADSS | - | - | - | - | 3 | Gain | - |
AFF4 | p.T605A | Missense | SNP | 0.471 | 2 | - | - |
AGO1 | p.K606Nfs*8 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
AGO2 | - | - | - | - | 3 | Gain | - |
AGRN | p.E1749Sfs*11 | Frame_Shift_Del | DEL | 0.420 | 2 | - | - |
AGT | - | - | - | - | 3 | Gain | - |
AGTR2 | p.C230* | Nonsense | SNP | 0.389 | ND | ND | - |
AHCTF1 | - | - | - | - | 3 | Gain | - |
AHI1 | p.K36Nfs*21 | Frame_Shift_Del | DEL | 0.538 | 2 | - | - |
AHR | p.N357Tfs*25 | Frame_Shift_Del | DEL | 0.683 | 2 | - | - |
AIDA | - | - | - | - | 3 | Gain | - |
AIM2 | - | - | - | - | 3 | Gain | - |
AK7 | p.T11P | Missense | SNP | 0.469 | 2 | - | - |
AKAP7 | p.K79Rfs*21 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
AKAP9 | p.L1754H | Missense | SNP | 0.523 | 2 | - | - |
AKNA | p.D1394N | Missense | SNP | 0.516 | 2 | - | - |
AKT3 | - | - | - | - | 3 | Gain | - |
AL117348.2 | - | - | - | - | 3 | Gain | - |
AL139011.2 | - | - | - | - | 3 | Gain | - |
AL139142.2 | - | - | - | - | 3 | Gain | - |
AL358472.6 | - | - | - | - | 3 | Gain | - |
AL358472.7 | - | - | - | - | 3 | Gain | - |
AL512785.2 | - | - | - | - | 3 | Gain | - |
AL590132.1 | - | - | - | - | 3 | Gain | - |
AL591806.3 | - | - | - | - | 3 | Gain | - |
AL691442.1 | - | - | - | - | 3 | Gain | - |
AL713999.1 | - | - | - | - | 3 | Gain | - |
ALDH18A1 | p.R94C | Missense | SNP | 0.461 | 2 | - | - |
ALDH9A1 | - | - | - | - | 3 | Gain | - |
ALDOB | p.T123I | Missense | SNP | 0.623 | 2 | - | - |
ALKAL1 | - | - | - | - | 3 | Gain | - |
ALS2 | p.A1359T | Missense | SNP | 0.493 | 2 | - | - |
AMER1 | p.F173Lfs*36 | Frame_Shift_Del | DEL | 0.364 | ND | ND | - |
AMER2 | p.A407T p.D42E | Missense Missense | SNP SNP | 0.496 0.463 | 2 | - | - |
AMPD2 | p.R28M | Missense | SNP | 0.503 | 2 | - | - |
AMPD3 | p.P109Rfs*60 p.G236Afs*32 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.535 0.376 | 2 | - | - |
ANGEL2 | - | - | - | - | 3 | Gain | - |
ANGPT1 | - | - | - | - | 3 | Gain | - |
ANGPTL1 | - | - | - | - | 3 | Gain | - |
ANK3 | p.G664Rfs*23 | Frame_Shift_Ins | INS | 0.301 | 2 | - | - |
ANKLE1 | p.P364T | Missense | SNP | 0.466 | 2 | - | - |
ANKRD18A | p.K708T | Missense | SNP | 0.392 | 2 | - | - |
ANKRD33B | p.P399R | Missense | SNP | 0.472 | 2 | - | - |
ANKRD34A | - | - | - | - | 3 | Gain | - |
ANKRD35 | - | - | - | - | 3 | Gain | - |
ANKRD45 | - | - | - | - | 3 | Gain | - |
ANKRD46 | - | - | - | - | 3 | Gain | - |
ANKRD50 | p.A728T | Missense | SNP | 0.489 | 2 | - | - |
ANKRD52 | p.G52C | Missense | SNP | 0.544 | 2 | - | - |
ANO1 | p.P701Lfs*7 | Frame_Shift_Del | DEL | 0.363 | 2 | - | - |
ANP32E | - | - | - | - | 3 | Gain | - |
ANPEP | p.L237F | Missense | SNP | 0.455 | 2 | - | - |
ANXA13 | - | - | - | - | 3 | Gain | - |
ANXA9 | - | - | - | - | 3 | Gain | - |
AP3B1 | p.K923Nfs*4 | Frame_Shift_Del | DEL | 0.625 | 2 | - | - |
APC | p.R1399C p.G1534V | Missense Missense | SNP SNP | 0.503 0.558 | 2 | - | - |
APCS | - | - | - | - | 3 | Gain | - |
APEH | p.T36A | Missense | SNP | 0.501 | 2 | - | - |
APH1A | - | - | - | - | 3 | Gain | - |
APH1B | p.T163M | Missense | SNP | 0.342 | 2 | - | - |
APLP2 | p.I209V | Missense | SNP | 0.553 | 2 | - | - |
APOA2 | - | - | - | - | 3 | Gain | - |
APOA4 | p.R275C | Missense | SNP | 0.520 | 2 | - | - |
APOBEC4 | - | - | - | - | 3 | Gain | - |
AQP10 | - | - | - | - | 3 | Gain | - |
AQP2 | p.E250D | Missense | SNP | 0.490 | 2 | - | - |
ARC | - | - | - | - | 3 | Gain | - |
ARF1 | - | - | - | - | 5 | Amp | - |
ARFGEF1 | - | - | - | - | 3 | Gain | - |
ARFGEF2 | p.V568M | Missense | SNP | 0.422 | 2 | - | - |
ARHGAP30 | - | - | - | - | 3 | Gain | - |
ARHGAP31 | p.W965C | Missense | SNP | 0.635 | 2 | - | - |
ARHGAP36 | p.R164H | Missense | SNP | 0.441 | ND | ND | - |
ARHGAP39 | - | - | - | - | 3 | Gain | - |
ARHGAP44 | p.S295Lfs*5 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
ARHGEF11 | - | - | - | - | 3 | Gain | - |
ARHGEF2 | - | - | - | - | 3 | Gain | - |
ARHGEF26 | p.K386T | Missense | SNP | 0.534 | 2 | - | - |
ARHGEF38 | p.K464Rfs*26 | Frame_Shift_Del | DEL | 0.520 | 2 | - | - |
ARHGEF40 | p.A737Pfs*3 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
ARHGEF7 | p.T23Pfs*13 | Frame_Shift_Del | DEL | 0.522 | 2 | - | - |
ARHGEF9 | p.R216H | Missense | SNP | 0.468 | ND | ND | - |
ARID1A | p.G276Efs*87 p.Q2115H | Frame_Shift_Del Missense | DEL SNP | 0.496 0.564 | 2 | - | - |
ARID2 | p.E1332K | Missense | SNP | 0.421 | 2 | - | - |
ARID4B | - | - | - | - | 3 | Gain | - |
ARL8A | - | - | - | - | 3 | Gain | - |
ARMC1 | - | - | - | - | 3 | Gain | - |
ARMCX2 | p.A99V | Missense | SNP | 0.497 | ND | ND | - |
ARNT | - | - | - | - | 3 | Gain | - |
ARNTL | p.A316T | Missense | SNP | 0.452 | 2 | - | - |
ARPC5 | - | - | - | - | 3 | Gain | - |
ARRDC2 | p.G122V | Missense | SNP | 0.450 | 2 | - | - |
ARSE | p.C111Y | Missense | SNP | 0.420 | ND | ND | - |
ARV1 | - | - | - | - | 3 | Gain | - |
ASAP1 | - | - | - | - | 3 | Gain | - |
ASB8 | p.R135W | Missense | SNP | 0.502 | 2 | - | - |
ASCL5 | - | - | - | - | 3 | Gain | - |
ASH1L | p.T2895Qfs*44 p.R712Kfs*10 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.688 0.404 | 3 | Gain | - |
ASPH | - | - | - | - | 3 | Gain | - |
ASPM | - | - | - | - | 3 | Gain | - |
ASTN1 | - | - | - | - | 3 | Gain | - |
ASXL1 | p.G645Wfs*12 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
ATAD2 | - | - | - | - | 3 | Gain | - |
ATF3 | - | - | - | - | 3 | Gain | - |
ATF5 | p.L37Wfs*31 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
ATF6 | - | - | - | - | 3 | Gain | - |
ATIC | p.R172H | Missense | SNP | 0.509 | 2 | - | - |
ATOH1 | p.A94G | Missense | SNP | 0.350 | 2 | - | - |
ATOH8 | p.P169Qfs*30 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
ATP10A | p.P13Afs*176 | Frame_Shift_Ins | INS | 0.319 | 2 | - | - |
ATP1A2 | - | - | - | - | 3 | Gain | - |
ATP1A4 | - | - | - | - | 3 | Gain | - |
ATP1B1 | - | - | - | - | 3 | Gain | - |
ATP2B4 | - | - | - | - | 3 | Gain | - |
ATP6V0D2 | - | - | - | - | 3 | Gain | - |
ATP6V1C1 | - | - | - | - | 3 | Gain | - |
ATP6V1G3 | - | - | - | - | 3 | Gain | - |
ATP6V1H | - | - | - | - | 3 | Gain | - |
ATP8B2 | - | - | - | - | 3 | Gain | - |
ATP9B | p.P147H | Missense | SNP | 0.431 | 2 | - | - |
ATR | p.I774Yfs*5 | Frame_Shift_Del | DEL | 0.579 | 2 | - | - |
ATRIP | p.S178I | Missense | SNP | 0.484 | 2 | - | - |
ATXN1L | p.R684C | Missense | SNP | 0.564 | 2 | - | - |
ATXN7 | p.T781Pfs*11 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
AUTS2 | p.G1229D | Missense | SNP | 0.466 | 2 | - | - |
AVEN | p.S94N | Missense | SNP | 0.321 | 2 | - | - |
AVPR1B | - | - | - | - | 3 | Gain | - |
AXDND1 | - | - | - | - | 3 | Gain | - |
AZIN1 | - | - | - | - | 3 | Gain | - |
B3GALNT2 | - | - | - | - | 3 | Gain | - |
B3GALT2 | - | - | - | - | 3 | Gain | - |
B4GALNT1 | p.G88Afs*24 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
B4GALT3 | - | - | - | - | 3 | Gain | - |
BAALC | - | - | - | - | 3 | Gain | - |
BACH1 | p.A665V | Missense | SNP | 0.495 | 2 | - | - |
BAHD1 | p.R613* | Nonsense | SNP | 0.553 | 2 | - | - |
BAP1 | p.R717W p.R150H | Missense Missense | SNP SNP | 0.533 0.465 | 2 | - | - |
BASP1 | p.A192V | Missense | SNP | 0.475 | 2 | - | - |
BATF3 | - | - | - | - | 3 | Gain | - |
BAZ2B | p.K2048Nfs*19 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
BBOF1 | p.X192_splice | Splice_Site | SNP | 0.364 | 2 | - | - |
BCAN | - | - | - | - | 3 | Gain | - |
BCAR1 | p.G531C | Missense | SNP | 0.493 | 2 | - | - |
BCL11B | p.S560L | Missense | SNP | 0.471 | 2 | - | - |
BCL6 | p.A172T | Missense | SNP | 0.559 | 2 | - | - |
BCL9 | - | - | - | - | 3 | Gain | - |
BCOR | p.K839Sfs*17 p.E1272* | Frame_Shift_Del Nonsense | DEL SNP | 0.508 0.470 | ND | ND | - |
BECN2 | - | - | - | - | 3 | Gain | - |
BEST1 | p.E320del | In_Frame_Del | DEL | 0.472 | 2 | - | - |
BGLAP | - | - | - | - | 3 | Gain | - |
BHLHE22 | - | - | - | - | 3 | Gain | - |
BLVRA | p.I40M | Missense | SNP | 0.435 | 2 | - | - |
BLZF1 | - | - | - | - | 3 | Gain | - |
BMP10 | p.C389* | Nonsense | SNP | 0.484 | 2 | - | - |
BMP2 | p.Y78Tfs*3 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
BMP2K | p.H494del | In_Frame_Del | DEL | 0.296 | 2 | - | - |
BMPER | p.D576N | Missense | SNP | 0.478 | 2 | - | - |
BMPR2 | p.N583Tfs*44 p.X140_splice | Frame_Shift_Del Splice_Site | DEL SNP | 0.461 0.476 | 2 | - | - |
BMX | p.K448E | Missense | SNP | 0.538 | ND | ND | - |
BNC1 | p.E315Kfs*6 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
BNIPL | - | - | - | - | 3 | Gain | - |
BOD1L1 | p.E1614Kfs*29 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
BOLA1 | - | - | - | - | 3 | Gain | - |
BOP1 | - | - | - | - | 3 | Gain | - |
BPNT1 | - | - | - | - | 3 | Gain | - |
BRD2 | p.R322H p.R580H | Missense Missense | SNP SNP | 0.483 0.438 | 2 | - | - |
BRD4 | p.Q256Sfs*27 | Frame_Shift_Del | DEL | 0.365 | 2 | - | - |
BRDT | p.L323P | Missense | SNP | 0.422 | 2 | - | - |
BRINP1 | p.N665T | Missense | SNP | 0.540 | 2 | - | - |
BRINP2 | - | - | - | - | 3 | Gain | - |
BRINP3 | - | - | - | - | 3 | Gain | - |
BRMS1 | p.L108Cfs*22 | Frame_Shift_Del | DEL | 0.539 | 2 | - | - |
BROX | - | - | - | - | 3 | Gain | - |
BRWD3 | p.R905I | Missense | SNP | 0.520 | ND | ND | - |
BSN | p.S183Afs*30 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
BTF3L4 | p.K45Nfs*4 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
BTG2 | - | - | - | - | 3 | Gain | - |
BTN1A1 | p.L456Sfs*15 | Frame_Shift_Del | DEL | 0.534 | 2 | - | - |
C10orf35 | p.R69Q | Missense | SNP | 0.487 | ND | ND | - |
C10orf71 | p.A1054V | Missense | SNP | 0.486 | 2 | - | - |
C11orf57 | p.K161Sfs*20 | Frame_Shift_Del | DEL | 0.281 | ND | ND | - |
C11orf74 | p.V132I p.S133I | Missense Missense | SNP SNP | 0.545 0.550 | 2 | - | - |
C11orf80 | p.E602del | In_Frame_Del | DEL | 0.466 | 2 | - | - |
C15orf39 | p.Y388Wfs*68 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
C15orf52 | p.T204Hfs*56 | Frame_Shift_Ins | INS | 0.332 | ND | ND | - |
C16orf62 | p.D851N | Missense | SNP | 0.455 | ND | ND | - |
C18orf8 | p.S401P | Missense | SNP | 0.468 | ND | ND | - |
C19orf81 | p.D166V | Missense | SNP | 0.529 | 2 | - | - |
C1orf100 | - | - | - | - | 3 | Gain | - |
C1orf105 | - | - | - | - | 3 | Gain | - |
C1orf112 | - | - | - | - | 3 | Gain | - |
C1orf115 | - | - | - | - | 3 | Gain | - |
C1orf116 | - | - | - | - | 3 | Gain | - |
C1orf131 | - | - | - | - | 3 | Gain | - |
C1orf186 | p.A28V | Missense | SNP | 0.604 | ND | ND | - |
C1orf189 | - | - | - | - | 3 | Gain | - |
C1orf198 | - | - | - | - | 3 | Gain | - |
C1orf21 | - | - | - | - | 3 | Gain | - |
C1orf226 | p.H64Tfs*42 | Frame_Shift_Del | DEL | 0.317 | 3 | Gain | - |
C1orf35 | - | - | - | - | 5 | Amp | - |
C1orf43 | - | - | - | - | 3 | Gain | - |
C1orf53 | - | - | - | - | 3 | Gain | - |
C1orf54 | - | - | - | - | 3 | Gain | - |
C1orf56 | - | - | - | - | 3 | Gain | - |
C1orf61 | - | - | - | - | 3 | Gain | - |
C1orf68 | - | - | - | - | 3 | Gain | - |
C1orf74 | - | - | - | - | 3 | Gain | - |
C1S | p.K281Rfs*39 | Frame_Shift_Del | DEL | 0.561 | 2 | - | - |
C2CD3 | p.R18Efs*3 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
C2CD4D | - | - | - | - | 3 | Gain | - |
C2orf54 | p.T45M | Missense | SNP | 0.068 | ND | ND | - |
C3orf67 | p.I191M | Missense | SNP | 0.341 | 2 | - | - |
C4BPA | - | - | - | - | 3 | Gain | - |
C4BPB | - | - | - | - | 3 | Gain | - |
C4orf3 | p.L46I | Missense | SNP | 0.455 | 2 | - | - |
C4orf50 | p.L1489F | Missense | SNP | 0.455 | 2 | - | - |
C7orf62 | p.F125Lfs*5 | Frame_Shift_Del | DEL | 0.645 | ND | ND | - |
C8orf33 | - | - | - | - | 3 | Gain | - |
C8orf34 | - | - | - | - | 3 | Gain | - |
C8orf37 | - | - | - | - | 3 | Gain | - |
C8orf44 | - | - | - | - | 3 | Gain | - |
C8orf59 | - | - | - | - | 3 | Gain | - |
C8orf76 | - | - | - | - | 3 | Gain | - |
C8orf82 | - | - | - | - | 3 | Gain | - |
C8orf88 | - | - | - | - | 3 | Gain | - |
C8orf89 | - | - | - | - | 3 | Gain | - |
C9 | - | - | - | - | 1 | Loss | - |
C9orf114 | p.S271G | Missense | SNP | 0.528 | ND | ND | - |
C9orf131 | p.C344Afs*49 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
C9orf57 | p.R35H | Missense | SNP | 0.386 | 2 | - | - |
CA1 | - | - | - | - | 3 | Gain | - |
CA13 | p.S61N | Missense | SNP | 0.338 | 3 | Gain | - |
CA14 | - | - | - | - | 3 | Gain | - |
CA2 | - | - | - | - | 3 | Gain | - |
CA3 | - | - | - | - | 3 | Gain | - |
CA4 | p.D120G | Missense | SNP | 0.550 | 2 | - | - |
CA7 | p.V257M | Missense | SNP | 0.467 | 2 | - | - |
CA8 | - | - | - | - | 3 | Gain | - |
CACNA1B | p.L37Cfs*64 | Frame_Shift_Del | DEL | 0.261 | 2 | - | - |
CACNA1C | p.C1582Y | Missense | SNP | 0.474 | 2 | - | - |
CACNA1D | p.R1531H | Missense | SNP | 0.523 | 2 | - | - |
CACNA1E | p.A1445V p.A1453T p.Y2054C | Missense Missense Missense | SNP SNP SNP | 0.226 0.638 0.686 | 3 | Gain | - |
CACNA1S | - | - | - | - | 3 | Gain | - |
CACTIN | p.P501T | Missense | SNP | 0.410 | 2 | - | - |
CACUL1 | p.G11Afs*6 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
CACYBP | - | - | - | - | 3 | Gain | - |
CAD | p.Q1172Tfs*37 p.G1444E | Frame_Shift_Ins Missense | INS SNP | 0.332 0.506 | 2 | - | - |
CADM3 | - | - | - | - | 3 | Gain | - |
CADPS | p.L78Cfs*20 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
CALB1 | - | - | - | - | 3 | Gain | - |
CALD1 | p.Q529Rfs*76 | Frame_Shift_Del | DEL | 0.404 | 2 | - | - |
CAMK1G | - | - | - | - | 3 | Gain | - |
CAMK4 | p.I34V | Missense | SNP | 0.450 | 2 | - | - |
CAMSAP2 | p.K1263Nfs*19 | Frame_Shift_Del | DEL | 0.354 | 3 | Gain | - |
CAMTA1 | p.K1589Nfs*33 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
CAPN10 | p.V443Wfs*32 | Frame_Shift_Del | DEL | 0.428 | 2 | - | - |
CAPN2 | - | - | - | - | 3 | Gain | - |
CAPN8 | - | - | - | - | 3 | Gain | - |
CAPN9 | - | - | - | - | 3 | Gain | - |
CASKIN2 | p.G979Afs*141 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
CASP8AP2 | p.S916T | Missense | SNP | 0.406 | 2 | - | - |
CASQ1 | - | - | - | - | 3 | Gain | - |
CASS4 | p.T778M | Missense | SNP | 0.498 | 2 | - | - |
CATSPER3 | p.I120V | Missense | SNP | 0.536 | 2 | - | - |
CATSPERE | - | - | - | - | 3 | Gain | - |
CBLL1 | p.Q183R | Missense | SNP | 0.514 | 2 | - | - |
CCDC112 | p.E306Sfs*20 | Frame_Shift_Del | DEL | 0.655 | 2 | - | PGGT1B--CCDC112 |
CCDC154 | p.E62A | Missense | SNP | 0.446 | 2 | - | - |
CCDC166 | - | - | - | - | 3 | Gain | - |
CCDC18 | p.V259Wfs*15 | Frame_Shift_Del | DEL | 0.389 | 2 | - | - |
CCDC181 | p.K369Rfs*6 | Frame_Shift_Del | DEL | 0.255 | 3 | Gain | - |
CCDC185 | - | - | - | - | 3 | Gain | - |
CCDC190 | - | - | - | - | 3 | Gain | - |
CCDC3 | p.A19P | Missense | SNP | 0.547 | 2 | - | - |
CCDC7 | p.V218M | Missense | SNP | 0.439 | 2 | - | - |
CCDC88A | p.R218W | Missense | SNP | 0.522 | 2 | - | - |
CCNE2 | - | - | - | - | 3 | Gain | - |
CCNH | p.G296C | Missense | SNP | 0.512 | 2 | - | - |
CCR2 | p.R231Q | Missense | SNP | 0.461 | 2 | - | - |
CCSAP | - | - | - | - | 3 | Gain | - |
CCSER2 | p.S985Qfs*14 | Frame_Shift_Del | DEL | 0.513 | 2 | - | - |
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 | - |
CD3G | p.K71Nfs*40 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
CD46 | - | - | - | - | 3 | Gain | - |
CD48 | - | - | - | - | 3 | Gain | - |
CD55 | - | - | - | - | 3 | Gain | - |
CD5L | - | - | - | - | 3 | Gain | - |
CD84 | - | - | - | - | 3 | Gain | - |
CDC42BPA | - | - | - | - | 3 | Gain | - |
CDC42BPB | p.V1065M | Missense | SNP | 0.509 | 2 | - | - |
CDC42EP1 | p.P114H | Missense | SNP | 0.512 | 2 | - | - |
CDC42SE1 | - | - | - | - | 3 | Gain | - |
CDC7 | p.R411* | Nonsense | SNP | 0.488 | 2 | - | - |
CDC73 | p.I182Lfs*20 | Frame_Shift_Del | DEL | 0.305 | 3 | Gain | - |
CDCP1 | p.A354T | Missense | SNP | 0.482 | 2 | - | - |
CDH17 | p.A639V | Missense | SNP | 0.214 | 3 | Gain | - |
CDH23 | p.D552G | Missense | SNP | 0.589 | 2 | - | - |
CDH24 | p.P712Rfs*129 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
CDH4 | p.P594Rfs*35 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
CDH8 | p.A194T | Missense | SNP | 0.458 | 2 | - | - |
CDHR2 | p.S155Y | Missense | SNP | 0.430 | 2 | - | - |
CDK14 | p.Y246H | Missense | SNP | 0.391 | 2 | - | - |
CDK18 | - | - | - | - | 3 | Gain | - |
CDK20 | p.H319Pfs*4 | Frame_Shift_Ins | INS | 0.233 | 2 | - | - |
CDKL2 | p.K74Nfs*5 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
CDO1 | p.N128Tfs*15 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
CEL | p.V596Cfs*111 p.V662Cfs*45 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.427 0.947 | 2 | - | - |
CELF2 | p.F456L | Missense | SNP | 0.670 | 2 | - | - |
CELF3 | - | - | - | - | 3 | Gain | - |
CELSR1 | p.T1849Rfs*8 p.D2356G p.P1128L | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.509 0.449 0.450 | 2 | - | - |
CELSR3 | p.A2156Pfs*38 p.S1734I | Frame_Shift_Del Missense | DEL SNP | 0.398 0.468 | 2 | - | - |
CENPF | - | - | - | - | 3 | Gain | - |
CENPI | p.A124V | Missense | SNP | 0.361 | ND | ND | - |
CENPL | - | - | - | - | 3 | Gain | - |
CEP120 | p.P139L | Missense | SNP | 0.457 | 2 | - | - |
CEP128 | p.R232H | Missense | SNP | 0.400 | 2 | - | - |
CEP170 | - | - | - | - | 3 | Gain | - |
CEP290 | p.I2293V | Missense | SNP | 0.509 | 2 | - | - |
CEP350 | - | - | - | - | 3 | Gain | - |
CERS2 | - | - | - | - | 3 | Gain | - |
CFAP126 | - | - | - | - | 3 | Gain | - |
CFAP45 | - | - | - | - | 3 | Gain | - |
CFAP47 | p.R1623Gfs*2 | Frame_Shift_Del | DEL | 0.389 | ND | ND | - |
CFH | - | - | - | - | 3 | Gain | - |
CFHR1 | p.N94Kfs*37 | Frame_Shift_Del | DEL | 0.631 | 3 | Gain | - |
CFHR2 | - | - | - | - | 3 | Gain | - |
CFHR3 | - | - | - | - | 3 | Gain | - |
CFHR4 | p.E519D | Missense | SNP | 0.565 | 3 | Gain | - |
CFHR5 | - | - | - | - | 3 | Gain | - |
CGB1 | p.K122N | Missense | SNP | 0.457 | ND | ND | - |
CGN | - | - | - | - | 3 | Gain | - |
CHCHD7 | - | - | - | - | 3 | Gain | - |
CHD1L | - | - | - | - | 3 | Gain | - |
CHD3 | p.R599Vfs*16 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
CHD7 | p.D2988Mfs*3 | Frame_Shift_Del | DEL | 0.253 | 3 | Gain | - |
CHD8 | p.R493L | Missense | SNP | 0.391 | 2 | - | - |
CHI3L1 | - | - | - | - | 3 | Gain | - |
CHIT1 | - | - | - | - | 3 | Gain | - |
CHM | p.X450_splice | Splice_Site | SNP | 0.150 | ND | ND | - |
CHML | - | - | - | - | 3 | Gain | - |
CHMP4C | - | - | - | - | 3 | Gain | - |
CHRAC1 | - | - | - | - | 3 | Gain | - |
CHRM3 | - | - | - | - | 3 | Gain | - |
CHRNB2 | - | - | - | - | 3 | Gain | - |
CHST4 | p.K265E | Missense | SNP | 0.514 | 2 | - | - |
CHST8 | p.G284S | Missense | SNP | 0.503 | 2 | - | - |
CHTOP | - | - | - | - | 3 | Gain | - |
CIART | - | - | - | - | 3 | Gain | - |
CIITA | p.T166Lfs*3 p.A657Pfs*30 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.504 0.442 | 2 | - | - |
CKLF | p.E150Kfs*? | Frame_Shift_Del | DEL | 0.350 | 2 | - | - |
CKS1B | - | - | - | - | 3 | Gain | - |
CLASP2 | p.T1143I | Missense | SNP | 0.568 | 2 | - | - |
CLCN4 | p.E682Sfs*10 | Frame_Shift_Del | DEL | 0.498 | ND | ND | - |
CLDN11 | p.A83T | Missense | SNP | 0.559 | 2 | - | - |
CLEC16A | p.L611Wfs*11 | Frame_Shift_Del | DEL | 0.079 | 2 | - | - |
CLK2 | - | - | - | - | 3 | Gain | - |
CLK3 | p.Q77H | Missense | SNP | 0.433 | 2 | - | - |
CLOCK | p.L123* p.R97* | Frame_Shift_Del Nonsense | DEL SNP | 0.682 0.328 | 2 | - | - |
CLPB | p.I521V | Missense | SNP | 0.532 | 2 | - | - |
CLSTN3 | p.A640T | Missense | SNP | 0.521 | 2 | - | - |
CLUH | p.R595Afs*27 p.Q67Rfs*93 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.494 0.403 | 2 | - | - |
CLVS1 | - | - | - | - | 3 | Gain | - |
CMC4 | p.C12Lfs*50 | Frame_Shift_Del | DEL | 0.383 | ND | ND | - |
CNBD1 | - | - | - | - | 3 | Gain | - |
CNGB3 | - | - | - | - | 3 | Gain | - |
CNIH3 | - | - | - | - | 3 | Gain | - |
CNIH4 | - | - | - | - | 3 | Gain | - |
CNOT1 | p.Q1748H | Missense | SNP | 0.513 | 2 | - | - |
CNOT11 | p.I484M | Missense | SNP | 0.516 | 2 | - | - |
CNST | - | - | - | - | 3 | Gain | - |
CNTLN | p.P14Qfs*76 p.A72Qfs*18 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.492 0.524 | 2 | - | - |
CNTN2 | - | - | - | - | 3 | Gain | - |
CNTN3 | p.S33I | Missense | SNP | 0.649 | 2 | - | - |
CNTRL | p.K838E | Missense | SNP | 0.537 | 2 | - | - |
COA6 | - | - | - | - | 3 | Gain | - |
COBL | p.R334* | Nonsense | SNP | 0.414 | 2 | - | - |
COG2 | - | - | - | - | 3 | Gain | - |
COG6 | p.K82N | Missense | SNP | 0.558 | 2 | - | - |
COG8 | p.P301T | Missense | SNP | 0.538 | 2 | - | - |
COL12A1 | p.G854Vfs*8 | Frame_Shift_Del | DEL | 0.405 | 2 | - | - |
COL14A1 | - | - | - | - | 3 | Gain | - |
COL16A1 | p.G453Afs*8 | Frame_Shift_Del | DEL | 0.705 | 2 | - | - |
COL18A1 | p.L376Pfs*101 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
COL1A1 | p.G869V | Missense | SNP | 0.536 | 2 | - | - |
COL3A1 | p.G375* | Nonsense | SNP | 0.057 | 2 | - | - |
COL4A1 | p.R1063* | Nonsense | SNP | 0.574 | 2 | - | - |
COL5A1 | p.X679_splice | Splice_Site | INS | 0.311 | 2 | - | - |
COL5A3 | p.P1453Qfs*7 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
COL7A1 | p.P2029Lfs*177 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
COL9A1 | p.P301Rfs*27 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
COLEC10 | p.G218R | Missense | SNP | 0.350 | 3 | Gain | - |
COLGALT2 | p.W262R | Missense | SNP | 0.104 | 3 | Gain | - |
COMMD5 | - | - | - | - | 3 | Gain | - |
COMTD1 | p.V232Afs*? | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
COP1 | - | - | - | - | 3 | Gain | - |
COPA | - | - | - | - | 3 | Gain | - |
COPS5 | - | - | - | - | 3 | Gain | - |
COQ8A | - | - | - | - | 3 | Gain | - |
COX20 | - | - | - | - | 3 | Gain | - |
COX6C | - | - | - | - | 3 | Gain | - |
CPA6 | - | - | - | - | 3 | Gain | - |
CPD | p.A231Rfs*38 | Frame_Shift_Ins | INS | 0.259 | 2 | - | - |
CPNE3 | - | - | - | - | 3 | Gain | - |
CPQ | - | - | - | - | 3 | Gain | - |
CPSF1 | - | - | - | - | 3 | Gain | - |
CPSF6 | p.A488V | Missense | SNP | 0.659 | 2 | - | - |
CR1 | - | - | - | - | 3 | Gain | - |
CR1L | - | - | - | - | 3 | Gain | - |
CR2 | - | - | - | - | 3 | Gain | - |
CRABP2 | - | - | - | - | 3 | Gain | - |
CRB1 | - | - | - | - | 3 | Gain | - |
CRCT1 | - | - | - | - | 3 | Gain | - |
CREB3L4 | - | - | - | - | 3 | Gain | - |
CREG1 | - | - | - | - | 3 | Gain | - |
CRH | - | - | - | - | 3 | Gain | - |
CRISPLD1 | - | - | - | - | 3 | Gain | - |
CRNN | - | - | - | - | 3 | Gain | - |
CRP | - | - | - | - | 3 | Gain | - |
CRTC2 | - | - | - | - | 3 | Gain | - |
CRYGA | p.G159Vfs*9 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
CSK | p.A316V | Missense | SNP | 0.535 | 2 | - | - |
CSMD3 | - | - | - | - | 3 | Gain | - |
CSPP1 | p.L594R | Missense | SNP | 0.231 | 3 | Gain | - |
CSRP1 | - | - | - | - | 3 | Gain | - |
CST4 | p.R66H | Missense | SNP | 0.491 | 2 | - | - |
CTAGE9 | p.L59Cfs*27 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
CTBP1 | p.P412S | Missense | SNP | 0.462 | 2 | - | - |
CTD-3214H19.16 | p.L88I | Missense | SNP | 0.533 | ND | ND | - |
CTDP1 | p.V626M | Missense | SNP | 0.454 | 2 | - | - |
CTHRC1 | p.L137Kfs*28 | Frame_Shift_Del | DEL | 0.328 | 3 | Gain | - |
CTNND2 | p.T336Pfs*14 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
CTSE | - | - | - | - | 3 | Gain | - |
CTSF | p.C95Y | Missense | SNP | 0.436 | 2 | - | - |
CTSK | - | - | - | - | 3 | Gain | - |
CTSS | - | - | - | - | 3 | Gain | - |
CYB5R1 | - | - | - | - | 3 | Gain | - |
CYC1 | - | - | - | - | 3 | Gain | - |
CYHR1 | - | - | - | - | 3 | Gain | - |
CYP11B1 | - | - | - | - | 3 | Gain | - |
CYP11B2 | - | - | - | - | 3 | Gain | - |
CYP27A1 | p.W449L | Missense | SNP | 0.073 | 2 | - | - |
CYP27B1 | p.L58Cfs*20 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
CYP4Z1 | p.P50Lfs*14 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
CYP7A1 | - | - | - | - | 3 | Gain | - |
CYP7B1 | - | - | - | - | 3 | Gain | - |
CYSLTR1 | p.L260Yfs*20 | Frame_Shift_Del | DEL | 0.504 | ND | ND | - |
CYTH2 | p.L305Wfs*4 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
DAB1 | p.V184G | Missense | SNP | 0.547 | 2 | - | - |
DAB2 | - | - | - | - | 1 | Loss | - |
DAB2IP | p.A194V | Missense | SNP | 0.518 | 2 | - | - |
DACT1 | p.Y267C | Missense | SNP | 0.515 | 2 | - | - |
DACT3 | p.A518V | Missense | SNP | 0.538 | 2 | - | - |
DAP3 | - | - | - | - | 3 | Gain | - |
DARS2 | - | - | - | - | 3 | Gain | - |
DBNDD2 | p.S78G | Missense | SNP | 0.541 | 2 | - | - |
DCAF13 | - | - | - | - | 3 | Gain | - |
DCAF4L2 | - | - | - | - | 3 | Gain | - |
DCAF6 | - | - | - | - | 3 | Gain | - |
DCAF8 | - | - | - | - | 3 | Gain | - |
DCD | p.K42T | Missense | SNP | 0.055 | 2 | - | - |
DCDC2 | p.A153P | Missense | SNP | 0.461 | 2 | - | - |
DCDC2C | p.A40T | Missense | SNP | 0.475 | 2 | - | - |
DCHS1 | p.P3113Qfs*13 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
DCPS | p.R315H | Missense | SNP | 0.487 | 2 | - | - |
DCST1 | - | - | - | - | 3 | Gain | - |
DCST2 | - | - | - | - | 3 | Gain | - |
DCSTAMP | - | - | - | - | 3 | Gain | - |
DDHD1 | p.R458Q | Missense | SNP | 0.478 | 2 | - | - |
DDOST | p.E303del | In_Frame_Del | DEL | 0.472 | 2 | - | - |
DDR2 | - | - | - | - | 3 | Gain | - |
DDX11 | p.A381V | Missense | SNP | 0.059 | 2 | - | - |
DDX55 | p.E510K | Missense | SNP | 0.341 | 2 | - | - |
DDX59 | - | - | - | - | 3 | Gain | - |
DDX60 | p.L1133Yfs*4 | Frame_Shift_Del | DEL | 0.419 | 2 | - | - |
DECR1 | - | - | - | - | 3 | Gain | - |
DEDD | - | - | - | - | 3 | Gain | - |
DEGS1 | - | - | - | - | 3 | Gain | - |
DENND1B | - | - | - | - | 3 | Gain | - |
DENND3 | - | - | - | - | 3 | Gain | - |
DENND4B | p.L102Sfs*197 | Frame_Shift_Del | DEL | 0.391 | 3 | Gain | - |
DEPTOR | - | - | - | - | 3 | Gain | - |
DERL1 | - | - | - | - | 3 | Gain | - |
DESI2 | - | - | - | - | 3 | Gain | - |
DGAT1 | - | - | - | - | 3 | Gain | - |
DGAT2 | p.V85L | Missense | SNP | 0.355 | 2 | - | - |
DGKH | p.T1118A | Missense | SNP | 0.370 | 2 | - | - |
DHRS13 | p.H340Tfs*23 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
DHX37 | p.I709N | Missense | SNP | 0.482 | 2 | - | - |
DHX57 | p.R723H | Missense | SNP | 0.512 | 2 | - | - |
DHX9 | p.Q249R p.Y1234D | Missense Missense | SNP SNP | 0.378 0.329 | 3 | Gain | - |
DIAPH2 | p.A6V | Missense | SNP | 0.449 | ND | ND | - |
DIS3L2 | p.X833_splice | Splice_Site | SNP | 0.506 | 2 | - | - |
DISC1 | - | - | - | - | 3 | Gain | - |
DISP1 | p.I1369N | Missense | SNP | 0.263 | 3 | Gain | - |
DLC1 | p.R617Gfs*37 | Frame_Shift_Del | DEL | 0.456 | 2 | - | - |
DLEC1 | p.V944I | Missense | SNP | 0.509 | 2 | - | - |
DLG3 | p.T365Pfs*37 | Frame_Shift_Del | DEL | 0.465 | ND | ND | - |
DLX6 | p.Q44del | In_Frame_Del | DEL | 0.365 | 2 | - | - |
DMD | p.R691M | Missense | SNP | 0.418 | ND | ND | - |
DNAH12 | p.K1090Sfs*9 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
DNAH14 | p.L286Wfs*13 | Frame_Shift_Del | DEL | 0.522 | 3 | Gain | - |
DNAH5 | p.I1855Sfs*16 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
DNAH7 | p.I566F | Missense | SNP | 0.442 | 2 | - | - |
DNAJB4 | p.N303Ifs*9 | Frame_Shift_Del | DEL | 0.129 | 2 | - | - |
DNAJB7 | p.K295Rfs*25 | Frame_Shift_Del | DEL | 0.520 | 2 | - | - |
DNAJC5B | - | - | - | - | 3 | Gain | - |
DNHD1 | p.R43Afs*8 p.D30N p.E1256V p.A2900T | Frame_Shift_Del Missense Missense Missense | DEL SNP SNP SNP | 0.442 0.458 0.495 0.526 | 2 | - | - |
DNM3 | - | - | - | - | 3 | Gain | - |
DOCK1 | p.V327L | Missense | SNP | 0.474 | 2 | - | - |
DOCK3 | p.A1793T | Missense | SNP | 0.477 | 2 | - | - |
DOCK7 | p.F473L | Missense | SNP | 0.173 | 2 | - | - |
DOPEY2 | p.Q1486* | Nonsense | SNP | 0.499 | ND | ND | - |
DPM3 | - | - | - | - | 3 | Gain | - |
DPP6 | p.A39T | Missense | SNP | 0.511 | 2 | - | - |
DPT | - | - | - | - | 3 | Gain | - |
DPY19L4 | - | - | - | - | 3 | Gain | - |
DPYS | - | - | - | - | 3 | Gain | - |
DSCAM | p.E1093Rfs*47 | Frame_Shift_Ins | INS | 0.459 | 2 | - | - |
DSCC1 | - | - | - | - | 3 | Gain | - |
DSTYK | - | - | - | - | 3 | Gain | - |
DTL | - | - | - | - | 3 | Gain | - |
DTNA | p.V204A | Missense | SNP | 0.557 | 2 | - | - |
DUSP10 | - | - | - | - | 3 | Gain | - |
DUSP12 | - | - | - | - | 3 | Gain | - |
DUSP23 | - | - | - | - | 3 | Gain | - |
DUSP27 | - | - | - | - | 3 | Gain | - |
DYNC2H1 | p.E436K | Missense | SNP | 0.649 | 2 | - | - |
DYNC2LI1 | p.L238M | Missense | SNP | 0.567 | 2 | - | - |
DYRK3 | - | - | - | - | 3 | Gain | - |
E2F5 | p.K107Sfs*11 | Frame_Shift_Del | DEL | 0.258 | 3 | Gain | - |
EBAG9 | - | - | - | - | 3 | Gain | - |
EBF4 | p.P177H | Missense | SNP | 0.544 | 2 | - | - |
ECE1 | p.P31H | Missense | SNP | 0.523 | 2 | - | - |
ECE2 | p.R233Dfs*65 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
ECM1 | - | - | - | - | 3 | Gain | - |
ECT2L | p.R225H | Missense | SNP | 0.517 | 2 | - | - |
EDARADD | - | - | - | - | 3 | Gain | - |
EDC3 | p.A471T | Missense | SNP | 0.495 | 2 | - | - |
EDEM3 | - | - | - | - | 3 | Gain | - |
EDNRB | p.A74V | Missense | SNP | 0.452 | 2 | - | - |
EEF1A2 | p.T239Rfs*40 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
EEF1D | p.P507Qfs*144 | Frame_Shift_Del | DEL | 0.310 | 3 | Gain | - |
EFCAB1 | - | - | - | - | 3 | Gain | - |
EFCAB2 | - | - | - | - | 3 | Gain | - |
EFCAB8 | p.L1082Wfs*18 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
EFNA1 | - | - | - | - | 3 | Gain | - |
EFNA3 | - | - | - | - | 3 | Gain | - |
EFNA4 | - | - | - | - | 3 | Gain | - |
EFR3A | - | - | - | - | 3 | Gain | - |
EGLN1 | - | - | - | - | 3 | Gain | - |
EHD4 | p.H527Tfs*37 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
EHMT2 | p.H33Tfs*28 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
EIF2AK3 | p.T244Lfs*62 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
EIF2AK4 | p.R1146H | Missense | SNP | 0.354 | 2 | - | - |
EIF2B1 | p.W272L | Missense | SNP | 0.529 | 2 | - | - |
EIF2D | - | - | - | - | 3 | Gain | - |
EIF3B | p.Q104R p.R751C | Missense Missense | SNP SNP | 0.506 0.398 | 2 | - | - |
EIF3E | - | - | - | - | 3 | Gain | - |
EIF3H | - | - | - | - | 3 | Gain | - |
EIF4G1 | p.P695S | Missense | SNP | 0.512 | 2 | - | - |
ELAVL3 | p.A18Gfs*18 | Frame_Shift_Ins | INS | 0.107 | 2 | - | - |
ELF3 | - | - | - | - | 3 | Gain | - |
ELFN2 | p.A714V | Missense | SNP | 0.489 | 2 | - | - |
ELK1 | p.P173Lfs*49 | Frame_Shift_Del | DEL | 0.434 | ND | ND | - |
ELK3 | p.V176Wfs*7 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
ELK4 | - | - | - | - | 3 | Gain | - |
ELMO3 | p.L83Wfs*5 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
ELMSAN1 | p.Q36Sfs*6 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
ELOC | - | - | - | - | 3 | Gain | - |
EMC2 | - | - | - | - | 3 | Gain | - |
EMILIN1 | p.E182D p.F889L | Missense Missense | SNP SNP | 0.493 0.525 | 2 | - | - |
EN1 | p.R12H | Missense | SNP | 0.457 | 2 | - | - |
ENAH | - | - | - | - | 3 | Gain | - |
ENDOD1 | p.L9P | Missense | SNP | 0.513 | 2 | - | - |
ENG | p.P624Hfs*16 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
ENO2 | p.V367Sfs*3 | Frame_Shift_Del | DEL | 0.512 | 2 | - | - |
ENO4 | p.K207Rfs*32 | Frame_Shift_Del | DEL | 0.598 | 2 | - | - |
ENPEP | p.R143W | Missense | SNP | 0.514 | 2 | - | - |
ENPP2 | - | - | - | - | 3 | Gain | - |
ENSA | - | - | - | - | 3 | Gain | - |
ENY2 | - | - | - | - | 3 | Gain | - |
EP400 | p.P2523S | Missense | SNP | 0.470 | 2 | - | - |
EPB41 | p.Q568R | Missense | SNP | 0.555 | 2 | - | - |
EPHA10 | p.P252Hfs*97 | Frame_Shift_Del | DEL | 0.485 | 2 | - | - |
EPHA6 | p.S951I | Missense | SNP | 0.538 | 2 | - | - |
EPHX1 | - | - | - | - | 3 | Gain | - |
EPM2AIP1 | p.R96Sfs*21 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
EPN1 | p.S533F | Missense | SNP | 0.364 | 2 | - | - |
EPPK1 | p.V11A | Missense | SNP | 0.333 | 3 | Gain | - |
EPRS | - | - | - | - | 3 | Gain | - |
ERBB4 | p.M1? | Frame_Shift_Del | DEL | 0.088 | 2 | - | - |
ERF | p.G299Efs*12 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
ERICH1 | p.X57_splice | Splice_Site | SNP | 0.497 | 2 | - | - |
ERICH3 | p.R249G | Missense | SNP | 0.522 | 2 | - | - |
ERICH5 | - | - | - | - | 3 | Gain | - |
ERO1B | - | - | - | - | 3 | Gain | - |
ESPNL | p.S367Qfs*14 | Frame_Shift_Ins | INS | 0.316 | 2 | - | - |
ESR1 | p.G90S | Missense | SNP | 0.497 | 2 | - | - |
ESRP1 | - | - | - | - | 3 | Gain | - |
ESRRG | - | - | - | - | 3 | Gain | - |
ETNK2 | - | - | - | - | 3 | Gain | - |
ETV3 | - | - | - | - | 3 | Gain | - |
ETV3L | - | - | - | - | 3 | Gain | - |
EXO1 | - | - | - | - | 3 | Gain | - |
EXOC8 | - | - | - | - | 3 | Gain | - |
EXOSC4 | - | - | - | - | 3 | Gain | - |
EXOSC6 | p.E87D | Missense | SNP | 0.532 | 2 | - | - |
EXT1 | - | - | - | - | 3 | Gain | - |
EYA1 | - | - | - | - | 3 | Gain | - |
F11R | - | - | - | - | 3 | Gain | - |
F13A1 | p.A413T | Missense | SNP | 1.000 | 2 | - | - |
F13B | p.K54N | Missense | SNP | 0.281 | 3 | Gain | - |
F5 | - | - | - | - | 3 | Gain | - |
F9 | p.P197Sfs*2 | Frame_Shift_Ins | INS | 0.336 | ND | ND | - |
FABP12 | - | - | - | - | 3 | Gain | - |
FABP4 | - | - | - | - | 3 | Gain | - |
FABP5 | - | - | - | - | 3 | Gain | - |
FABP9 | - | - | - | - | 3 | Gain | - |
FAHD2A | p.P281Qfs*26 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
FAM104B | p.V71A | Missense | SNP | 0.423 | ND | ND | - |
FAM110B | - | - | - | - | 3 | Gain | - |
FAM126B | p.P520Qfs*7 | Frame_Shift_Del | DEL | 0.604 | 2 | - | - |
FAM129A | - | - | - | - | 3 | Gain | - |
FAM129C | p.P61H | Missense | SNP | 0.521 | 2 | - | - |
FAM134C | p.R241Tfs*18 | Frame_Shift_Del | DEL | 0.558 | ND | ND | - |
FAM135B | - | - | - | - | 3 | Gain | - |
FAM150A | p.R30Gfs*43 | Frame_Shift_Del | DEL | 0.344 | ND | ND | - |
FAM151B | p.P8L | Missense | SNP | 0.422 | 2 | - | - |
FAM163A | - | - | - | - | 3 | Gain | - |
FAM177B | - | - | - | - | 3 | Gain | - |
FAM184B | p.T1029I | Missense | SNP | 0.490 | 2 | - | - |
FAM186B | p.R519W | Missense | SNP | 0.489 | 2 | - | - |
FAM189B | - | - | - | - | 3 | Gain | - |
FAM205A | p.R224K | Missense | SNP | 0.377 | 2 | - | - |
FAM20A | p.E142D | Missense | SNP | 0.412 | 2 | - | - |
FAM20B | - | - | - | - | 3 | Gain | - |
FAM214A | p.P865S | Missense | SNP | 0.447 | 2 | - | - |
FAM21C | p.R1010C | Missense | SNP | 0.467 | ND | ND | - |
FAM26E | p.F246Lfs*75 | Frame_Shift_Del | DEL | 0.448 | ND | ND | - |
FAM47A | p.I428M | Missense | SNP | 0.441 | ND | ND | - |
FAM47C | p.P404L | Missense | SNP | 0.482 | ND | ND | - |
FAM49B | - | - | - | - | 3 | Gain | - |
FAM57B | p.G124D p.A112S | Missense Missense | SNP SNP | 0.517 0.534 | 2 | - | - |
FAM58A | p.R44W | Missense | SNP | 0.486 | ND | ND | - |
FAM71A | - | - | - | - | 3 | Gain | - |
FAM71E1 | p.P14Lfs*17 | Frame_Shift_Del | DEL | 0.485 | 2 | - | - |
FAM72A | - | - | - | - | 3 | Gain | - |
FAM72C | - | - | - | - | 3 | Gain | - |
FAM72D | - | - | - | - | 3 | Gain | - |
FAM78B | - | - | - | - | 3 | Gain | - |
FAM83A | p.Q358Tfs*22 | Frame_Shift_Ins | INS | 0.208 | 3 | Gain | - |
FAM83H | - | - | - | - | 3 | Gain | - |
FAM84B | - | - | - | - | 3 | Gain | - |
FAM89A | - | - | - | - | 3 | Gain | - |
FAM90A1 | p.P129L | Missense | SNP | 0.514 | 2 | - | - |
FAM91A1 | - | - | - | - | 3 | Gain | - |
FAM92A | - | - | - | - | 3 | Gain | - |
FARP1 | p.P905Lfs*20 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
FASLG | - | - | - | - | 3 | Gain | - |
FBL | p.K318Rfs*2 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
FBN2 | p.R39Pfs*17 | Frame_Shift_Ins | INS | 0.286 | 2 | - | - |
FBXL6 | - | - | - | - | 3 | Gain | - |
FBXO28 | - | - | - | - | 3 | Gain | - |
FBXO32 | - | - | - | - | 3 | Gain | - |
FBXO34 | p.I120Lfs*13 p.L485Cfs*13 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.384 0.467 | 2 | - | - |
FBXO38 | p.N247D | Missense | SNP | 0.540 | 2 | - | - |
FBXO43 | - | - | - | - | 3 | Gain | - |
FBXO5 | p.D340Mfs*30 | Frame_Shift_Del | DEL | 0.328 | 2 | - | - |
FBXW9 | p.R238C | Missense | SNP | 0.486 | 2 | - | - |
FCAMR | - | - | - | - | 3 | Gain | - |
FCER1A | p.L128Pfs*20 | Frame_Shift_Ins | INS | 0.215 | 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 | - |
FDCSP | p.R66C | Missense | SNP | 0.413 | 2 | - | - |
FDPS | - | - | - | - | 3 | Gain | - |
FER | p.R417M | Missense | SNP | 0.457 | 2 | - | - |
FER1L6 | - | - | - | - | 3 | Gain | - |
FEZF2 | p.A118Pfs*129 p.P22Rfs*32 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.359 0.455 | 2 | - | - |
FGD1 | p.P245L | Missense | SNP | 0.526 | ND | ND | - |
FGD6 | - | - | - | - | 1 | Loss | - |
FGF3 | p.T140M | Missense | SNP | 0.494 | 2 | - | - |
FGF8 | p.A104T | Missense | SNP | 0.475 | 2 | - | - |
FH | - | - | - | - | 3 | Gain | - |
FHAD1 | p.I953* | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
FHDC1 | p.A886Qfs*9 | Frame_Shift_Del | DEL | 0.528 | 2 | - | - |
FHL1 | p.P293H | Missense | SNP | 0.540 | ND | ND | - |
FJX1 | p.R199H | Missense | SNP | 0.468 | 2 | - | - |
FKBP10 | p.P345Rfs*20 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
FLAD1 | - | - | - | - | 3 | Gain | - |
FLG | - | - | - | - | 3 | Gain | - |
FLG2 | p.G928C | Missense | SNP | 0.623 | 3 | Gain | - |
FLNC | p.G1359D | Missense | SNP | 0.382 | 2 | - | - |
FLVCR1 | - | - | - | - | 3 | Gain | - |
FMN2 | - | - | - | - | 3 | Gain | - |
FMNL2 | p.R767W | Missense | SNP | 0.531 | 2 | - | - |
FMO1 | - | - | - | - | 3 | Gain | - |
FMO2 | - | - | - | - | 3 | Gain | - |
FMO3 | - | - | - | - | 3 | Gain | - |
FMO4 | p.K64N | Missense | SNP | 0.616 | 3 | Gain | - |
FMO5 | - | - | - | - | 3 | Gain | - |
FMOD | - | - | - | - | 3 | Gain | - |
FOXD4L3 | p.H225Y | Missense | SNP | 0.453 | ND | ND | - |
FOXD4L5 | p.R316C | Missense | SNP | 0.219 | 2 | - | - |
FOXH1 | - | - | - | - | 3 | Gain | - |
FOXI2 | p.G38Afs*6 | Frame_Shift_Del | DEL | 0.452 | 2 | - | - |
FREM2 | p.A291T p.A1725S | Missense Missense | SNP SNP | 0.455 0.565 | 2 | - | - |
FREM3 | p.R2027H | Missense | SNP | 0.591 | 2 | - | - |
FRMD4A | p.P1005Qfs*8 | Frame_Shift_Del | DEL | 0.407 | 2 | - | - |
FRRS1L | p.R125H | Missense | SNP | 0.494 | 2 | - | - |
FSBP | - | - | - | - | 3 | Gain | - |
FSCN3 | p.L333Wfs*34 | Frame_Shift_Del | DEL | 0.276 | 2 | - | - |
FSD1 | p.D196V | Missense | SNP | 0.508 | 2 | - | - |
FSIP2 | p.G50Afs*23 | Frame_Shift_Del | DEL | 0.380 | 2 | - | - |
FXR2 | - | - | - | - | 1 | Loss | - |
FYB1 | - | - | - | - | 1 | Loss | - |
FZD6 | - | - | - | - | 3 | Gain | - |
FZD7 | p.A133V | Missense | SNP | 0.543 | 2 | - | - |
G0S2 | - | - | - | - | 3 | Gain | - |
GABPB2 | - | - | - | - | 3 | Gain | - |
GAL3ST3 | p.A221D | Missense | SNP | 0.997 | 2 | - | - |
GALNT1 | p.A93V | Missense | SNP | 0.455 | 2 | - | - |
GALNT2 | - | - | - | - | 3 | Gain | - |
GARNL3 | p.P829L | Missense | SNP | 0.398 | 2 | - | - |
GATA1 | p.R243W | Missense | SNP | 0.475 | ND | ND | - |
GATA3 | p.P394L | Missense | SNP | 0.352 | 2 | - | - |
GATAD2B | p.A321V | Missense | SNP | 0.651 | 3 | Gain | - |
GBA | - | - | - | - | 3 | Gain | - |
GCSAML | - | - | - | - | 3 | Gain | - |
GCSAML-AS1 | - | - | - | - | 3 | Gain | - |
GDAP1 | - | - | - | - | 3 | Gain | - |
GDF6 | - | - | - | - | 3 | Gain | - |
GDI1 | p.T248Hfs*4 | Frame_Shift_Del | DEL | 0.589 | ND | ND | - |
GEM | - | - | - | - | 3 | Gain | - |
GEMIN7 | p.G75D | Missense | SNP | 0.470 | 2 | - | - |
GGA1 | p.P632Hfs*59 | Frame_Shift_Del | DEL | 0.525 | 2 | - | - |
GGH | - | - | - | - | 3 | Gain | - |
GGPS1 | - | - | - | - | 3 | Gain | - |
GJA5 | - | - | - | - | 3 | Gain | - |
GJA8 | - | - | - | - | 3 | Gain | - |
GJC2 | - | - | - | - | 3 | Gain | - |
GLI1 | p.P536Qfs*77 | Frame_Shift_Del | DEL | 0.107 | 2 | - | - |
GLI4 | - | - | - | - | 3 | Gain | - |
GLMP | - | - | - | - | 3 | Gain | - |
GLRX2 | - | - | - | - | 3 | Gain | - |
GLUL | - | - | - | - | 3 | Gain | - |
GML | - | - | - | - | 3 | Gain | - |
GNG4 | - | - | - | - | 3 | Gain | - |
GNPAT | - | - | - | - | 3 | Gain | - |
GOLGA8M | p.K16Sfs*2 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
GOLPH3L | - | - | - | - | 3 | Gain | - |
GOLT1A | - | - | - | - | 3 | Gain | - |
GON4L | p.K1020R | Missense | SNP | 0.637 | 3 | Gain | - |
GORAB | - | - | - | - | 3 | Gain | - |
GPA33 | - | - | - | - | 3 | Gain | - |
GPAA1 | - | - | - | - | 3 | Gain | - |
GPATCH2 | - | - | - | - | 3 | Gain | - |
GPATCH4 | - | - | - | - | 3 | Gain | - |
GPD2 | p.G329R | Missense | SNP | 0.500 | 2 | - | - |
GPIHBP1 | - | - | - | - | 3 | Gain | - |
GPR137B | - | - | - | - | 3 | Gain | - |
GPR149 | p.A283T | Missense | SNP | 0.519 | 2 | - | - |
GPR161 | - | - | - | - | 3 | Gain | - |
GPR20 | - | - | - | - | 3 | Gain | - |
GPR25 | - | - | - | - | 3 | Gain | - |
GPR37L1 | - | - | - | - | 3 | Gain | - |
GPR52 | - | - | - | - | 3 | Gain | - |
GPR88 | p.G283S | Missense | SNP | 0.444 | 2 | - | - |
GPR89A | - | - | - | - | 3 | Gain | - |
GPR89B | - | - | - | - | 3 | Gain | - |
GPRASP1 | p.E1164G | Missense | SNP | 0.507 | ND | ND | - |
GPRC6A | p.A572V | Missense | SNP | 0.386 | 2 | - | - |
GPRIN2 | p.G30C | Missense | SNP | 0.239 | 2 | - | - |
GPT | - | - | - | - | 3 | Gain | - |
GRAMD1A | p.R578Q | Missense | SNP | 0.174 | 2 | - | - |
GREM2 | - | - | - | - | 3 | Gain | - |
GRHL2 | - | - | - | - | 3 | Gain | - |
GRIA1 | p.D305N p.Y419C | Missense Missense | SNP SNP | 0.362 0.621 | 2 | - | - |
GRID1 | p.V280M | Missense | SNP | 0.525 | 2 | - | - |
GRIFIN | p.Q22H | Missense | SNP | 0.468 | 2 | - | - |
GRIK2 | p.N849Tfs*14 | Frame_Shift_Del | DEL | 0.536 | 2 | - | - |
GRIN2A | p.T1108P | Missense | SNP | 0.495 | 2 | - | - |
GRIN2C | p.P882T | Missense | SNP | 0.448 | 2 | - | - |
GRIN2D | p.D1052G | Missense | SNP | 0.318 | 2 | - | - |
GRINA | - | - | - | - | 3 | Gain | - |
GSDMC | - | - | - | - | 3 | Gain | - |
GSDMD | - | - | - | - | 3 | Gain | - |
GSE1 | p.V284A | Missense | SNP | 0.503 | 2 | - | - |
GTSF1L | p.P122Lfs*50 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
GUK1 | - | - | - | - | 3 | Gain | - |
GUSB | p.R327H | Missense | SNP | 0.488 | 2 | - | - |
GYS2 | p.X102_splice | Splice_Site | SNP | 0.458 | 2 | - | - |
GZMA | p.I29N | Missense | SNP | 0.302 | 2 | - | - |
H3F3A | - | - | - | - | 3 | Gain | - |
HAPLN2 | - | - | - | - | 3 | Gain | - |
HARBI1 | p.D225G | Missense | SNP | 0.453 | 2 | - | - |
HAS1 | p.A225V | Missense | SNP | 0.514 | 2 | - | - |
HAS2 | - | - | - | - | 3 | Gain | - |
HAUS6 | p.K189Nfs*16 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
HAX1 | - | - | - | - | 3 | Gain | - |
HCFC1 | p.G1868R p.A1091T | Missense Missense | SNP SNP | 0.527 0.511 | ND | ND | - |
HCN1 | p.R405Q | Missense | SNP | 0.425 | 2 | - | - |
HCN3 | - | - | - | - | 3 | Gain | - |
HDAC5 | p.C1061G p.A950V | Missense Missense | SNP SNP | 0.464 0.455 | 2 | - | - |
HDGF | - | - | - | - | 3 | Gain | - |
HDX | p.N337T | Missense | SNP | 0.485 | ND | ND | - |
HEATR1 | p.T703M | Missense | SNP | 0.380 | 3 | Gain | - |
HECTD4 | p.A3240Rfs*26 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
HELZ2 | p.S6Pfs*29 | Frame_Shift_Del | DEL | 0.388 | 2 | - | - |
HERC2 | p.R4587* p.A3424T p.E2145V | Nonsense Missense Missense | SNP SNP SNP | 0.417 0.437 0.441 | 2 | - | - |
HERC6 | p.A775V | Missense | SNP | 0.466 | 2 | - | - |
HEXDC | p.A532Lfs*41 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
HEY1 | - | - | - | - | 3 | Gain | - |
HGFAC | p.G533D | Missense | SNP | 0.483 | 2 | - | - |
HGH1 | - | - | - | - | 3 | Gain | - |
HHAT | - | - | - | - | 3 | Gain | - |
HHIPL2 | - | - | - | - | 3 | Gain | - |
HHLA1 | - | - | - | - | 3 | Gain | - |
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 | - |
HIVEP2 | p.R1082W | Missense | SNP | 0.452 | 2 | - | - |
HJV | - | - | - | - | 3 | Gain | - |
HLA-A | p.A24Rfs*75 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
HLA-B | p.A15Gfs*5 | Frame_Shift_Del | DEL | 1.000 | 2 | - | - |
HLX | - | - | - | - | 3 | Gain | - |
HMCN1 | - | - | - | - | 3 | Gain | - |
HMCN2 | p.E2769Q p.Y4965H | Missense Missense | SNP SNP | 0.478 0.478 | 2 | - | - |
HNF4G | - | - | - | - | 3 | Gain | - |
HNRNPU | - | - | - | - | 3 | Gain | - |
HORMAD1 | - | - | - | - | 3 | Gain | - |
HOXC6 | p.E199Nfs*70 | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
HOXD1 | p.R123Q | Missense | SNP | 0.420 | 2 | - | - |
HPX | p.S278N | Missense | SNP | 0.432 | 2 | - | - |
HRNR | p.S763T | Missense | SNP | 0.339 | 3 | Gain | - |
HSD11B1 | - | - | - | - | 3 | Gain | - |
HSD17B7 | - | - | - | - | 3 | Gain | - |
HSF1 | - | - | - | - | 3 | Gain | - |
HSPA12B | p.A308V | Missense | SNP | 0.450 | 2 | - | - |
HSPA6 | - | - | - | - | 3 | Gain | - |
HSPD1 | p.V193Sfs*17 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
HTT | p.N699Mfs*9 | Frame_Shift_Del | DEL | 0.067 | 2 | - | - |
HYAL1 | p.T392M | Missense | SNP | 0.493 | 2 | - | - |
HYPM | p.R79C | Missense | SNP | 0.111 | ND | ND | - |
IARS2 | - | - | - | - | 3 | Gain | - |
IBA57 | - | - | - | - | 3 | Gain | - |
ICAM5 | p.G308Afs*10 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
ICE1 | p.T911A | Missense | SNP | 0.505 | 2 | - | - |
IER5 | - | - | - | - | 3 | Gain | - |
IFI16 | p.E85Kfs*3 | Frame_Shift_Del | DEL | 0.388 | 3 | Gain | - |
IFT74 | p.X86_splice | Splice_Site | DEL | 0.543 | 2 | - | - |
IGFN1 | - | - | - | - | 3 | Gain | - |
IGSF10 | p.R728Q | Missense | SNP | 0.488 | 2 | - | - |
IGSF8 | - | - | - | - | 3 | Gain | - |
IGSF9 | - | - | - | - | 3 | Gain | - |
IGSF9B | p.R873H | Missense | SNP | 0.498 | 2 | - | - |
IKBKE | - | - | - | - | 3 | Gain | - |
IKZF5 | p.K5Nfs*8 | Frame_Shift_Del | DEL | 0.600 | 2 | - | - |
IL10 | - | - | - | - | 3 | Gain | - |
IL12RB1 | - | - | - | - | 1 | Loss | - |
IL19 | - | - | - | - | 3 | Gain | - |
IL20 | - | - | - | - | 3 | Gain | - |
IL23R | p.R381Q | Missense | SNP | 0.571 | 2 | - | - |
IL24 | - | - | - | - | 3 | Gain | - |
IL6R | - | - | - | - | 3 | Gain | - |
IL6ST | p.V530* | Frame_Shift_Del | DEL | 0.420 | 2 | - | - |
IL7 | - | - | - | - | 3 | Gain | - |
ILDR2 | - | - | - | - | 3 | Gain | - |
ILF2 | p.G106E | Missense | SNP | 0.207 | 3 | Gain | - |
IMPA1 | - | - | - | - | 3 | Gain | - |
IMPAD1 | - | - | - | - | 3 | Gain | - |
IMPDH1 | p.G405R | Missense | SNP | 0.480 | 2 | - | - |
IMPDH2 | p.V270A | Missense | SNP | 0.500 | 2 | - | - |
INAVA | - | - | - | - | 3 | Gain | - |
INCA1 | p.P26Qfs*41 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
INHBB | p.C252R | Missense | SNP | 0.505 | 2 | - | - |
INPP4A | p.R793* | Nonsense | SNP | 0.485 | 2 | - | - |
INPP5B | p.L858Cfs*5 | Frame_Shift_Del | DEL | 0.615 | 2 | - | - |
INPPL1 | p.P976Hfs*155 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
INSRR | - | - | - | - | 3 | Gain | - |
INTS1 | p.S1486N | Missense | SNP | 0.509 | 2 | - | - |
INTS12 | p.L14* | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
INTS3 | - | - | - | - | 3 | Gain | - |
INTS7 | - | - | - | - | 3 | Gain | - |
INTS8 | - | - | - | - | 3 | Gain | - |
IP6K1 | p.R282H | Missense | SNP | 0.593 | 2 | - | - |
IPO9 | - | - | - | - | 3 | Gain | - |
IQANK1 | - | - | - | - | 3 | Gain | - |
IQGAP3 | - | - | - | - | 3 | Gain | - |
IRF2BP2 | - | - | - | - | 3 | Gain | - |
IRF6 | - | - | - | - | 3 | Gain | - |
IRS2 | p.F1152del | In_Frame_Del | DEL | 0.493 | 2 | - | - |
IRX1 | p.D245G | Missense | SNP | 0.457 | 2 | - | - |
IRX2 | p.A427V | Missense | SNP | 0.582 | 2 | - | - |
ISG20L2 | - | - | - | - | 3 | Gain | - |
ITGA10 | - | - | - | - | 3 | Gain | - |
ITGA11 | p.A839E | Missense | SNP | 0.547 | 2 | - | - |
ITGB1BP1 | p.R3C | Missense | SNP | 0.387 | 2 | - | - |
ITGBL1 | p.E439V | Missense | SNP | 0.456 | 2 | - | - |
ITIH5 | p.G10E | Missense | SNP | 0.540 | 2 | - | - |
ITLN1 | - | - | - | - | 3 | Gain | - |
ITLN2 | - | - | - | - | 3 | Gain | - |
ITPKA | p.R357H | Missense | SNP | 0.429 | 2 | - | - |
ITPKB | - | - | - | - | 3 | Gain | - |
ITPR1 | p.A1187T | Missense | SNP | 0.447 | 2 | - | - |
ITSN1 | p.L158Pfs*3 | Frame_Shift_Ins | INS | 0.266 | 2 | - | - |
IVL | - | - | - | - | 3 | Gain | - |
IVNS1ABP | - | - | - | - | 3 | Gain | - |
JAML | p.H250Y | Missense | SNP | 0.524 | 2 | - | - |
JMJD4 | - | - | - | - | 3 | Gain | - |
JPH1 | - | - | - | - | 3 | Gain | - |
JRK | - | - | - | - | 3 | Gain | - |
JSRP1 | p.P169Rfs*60 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
JTB | - | - | - | - | 3 | Gain | - |
JUP | p.T409I | Missense | SNP | 0.477 | 2 | - | - |
KBTBD11 | p.R342W | Missense | SNP | 0.472 | 2 | - | - |
KCNB1 | p.R736Pfs*4 p.D74N | Frame_Shift_Ins Missense | INS SNP | 0.328 0.505 | 2 | - | - |
KCNB2 | - | - | - | - | 3 | Gain | - |
KCND2 | p.P208S | Missense | SNP | 0.391 | 2 | - | - |
KCND3 | p.V94M | Missense | SNP | 0.535 | 2 | - | - |
KCNE2 | p.Y84Lfs*29 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
KCNF1 | p.L187F | Missense | SNP | 0.432 | 2 | - | - |
KCNG3 | p.V134M | Missense | SNP | 0.538 | 2 | - | - |
KCNH1 | - | - | - | - | 3 | Gain | - |
KCNJ10 | - | - | - | - | 3 | Gain | - |
KCNJ9 | - | - | - | - | 3 | Gain | - |
KCNK1 | - | - | - | - | 3 | Gain | - |
KCNK2 | - | - | - | - | 3 | Gain | - |
KCNK9 | - | - | - | - | 3 | Gain | - |
KCNMB4 | p.L20F | Missense | SNP | 0.451 | 2 | - | - |
KCNN2 | p.N421Mfs*12 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
KCNN3 | - | - | - | - | 3 | Gain | - |
KCNQ3 | - | - | - | - | 3 | Gain | - |
KCNS2 | - | - | - | - | 3 | Gain | - |
KCNT2 | - | - | - | - | 3 | Gain | - |
KCNV1 | - | - | - | - | 3 | Gain | - |
KCTD3 | - | - | - | - | 3 | Gain | - |
KDELC1 | p.G258D | Missense | SNP | 0.594 | 2 | - | - |
KDM5B | - | - | - | - | 3 | Gain | - |
KDM6A | p.A694Lfs*21 | Frame_Shift_Del | DEL | 0.433 | ND | ND | - |
KDR | p.A690T | Missense | SNP | 0.441 | 2 | - | - |
KHDC4 | - | - | - | - | 3 | Gain | - |
KHDRBS3 | - | - | - | - | 3 | Gain | - |
KIAA0040 | - | - | - | - | 3 | Gain | - |
KIAA0355 | p.P332L | Missense | SNP | 0.442 | 2 | - | - |
KIAA0368 | p.R772H | Missense | SNP | 0.477 | ND | ND | - |
KIAA0556 | p.I1431Sfs*15 | Frame_Shift_Del | DEL | 0.587 | 2 | - | - |
KIAA0586 | p.Y695C p.N1216S | Missense Missense | SNP SNP | 0.421 0.515 | 2 | - | - |
KIAA1024 | p.S702Afs*11 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
KIAA1217 | p.T1232I | Missense | SNP | 0.541 | 2 | - | - |
KIAA1429 | p.F1796S | Missense | SNP | 0.250 | ND | ND | - |
KIAA1549L | p.R1099W | Missense | SNP | 0.502 | 2 | - | - |
KIAA1614 | - | - | - | - | 3 | Gain | - |
KIF14 | p.Q1410* | Nonsense | SNP | 0.351 | 3 | Gain | - |
KIF20B | p.F1495Lfs*10 | Frame_Shift_Del | DEL | 0.738 | 2 | - | - |
KIF21B | - | - | - | - | 3 | Gain | - |
KIF26B | - | - | - | - | 3 | Gain | - |
KIF5A | p.P110A | Missense | SNP | 0.542 | 2 | - | - |
KIFAP3 | - | - | - | - | 3 | Gain | - |
KIFC2 | - | - | - | - | 3 | Gain | - |
KIFC3 | p.R665H | Missense | SNP | 0.536 | 2 | - | - |
KIRREL1 | - | - | - | - | 3 | Gain | - |
KISS1 | - | - | - | - | 3 | Gain | - |
KISS1R | p.F48L | Missense | SNP | 0.497 | 2 | - | - |
KLF10 | - | - | - | - | 3 | Gain | - |
KLF14 | p.A179T p.S96F | Missense Missense | SNP SNP | 0.467 0.463 | 2 | - | - |
KLHDC8A | - | - | - | - | 3 | Gain | - |
KLHDC9 | - | - | - | - | 3 | Gain | - |
KLHL12 | - | - | - | - | 3 | Gain | - |
KLHL14 | p.A80Pfs*37 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
KLHL20 | - | - | - | - | 3 | Gain | - |
KLHL22 | p.P289L | Missense | SNP | 0.433 | 2 | - | - |
KLHL38 | - | - | - | - | 3 | Gain | - |
KLLN | p.W37L | Missense | SNP | 0.460 | 2 | - | - |
KMO | - | - | - | - | 3 | Gain | - |
KMT2B | p.P2214Qfs*2 | Frame_Shift_Del | DEL | 0.705 | 2 | - | - |
KMT2D | p.Y2907Tfs*3 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
KNDC1 | p.R189Q | Missense | SNP | 0.497 | 2 | - | - |
KNOP1 | p.G320Afs*8 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
KPRP | - | - | - | - | 3 | Gain | - |
KRAS | p.Q61E p.Q22K | Missense Missense | SNP SNP | 0.432 0.422 | 2 | - | - |
KRBA1 | p.P805Lfs*61 | Frame_Shift_Del | DEL | 0.373 | 2 | - | - |
KRT1 | p.G573S | Missense | SNP | 0.424 | 2 | - | - |
KRT14 | p.L468I | Missense | SNP | 0.498 | 2 | - | - |
KRT2 | p.X267_splice | Splice_Site | DEL | 0.397 | 2 | - | - |
KRT26 | p.E112G | Missense | SNP | 0.406 | 2 | - | - |
KRTAP15-1 | p.L95I | Missense | SNP | 0.493 | 2 | - | - |
KRTAP4-7 | p.T143S | Missense | SNP | 0.295 | 2 | - | - |
KRTCAP2 | - | - | - | - | 3 | Gain | - |
KSR2 | p.P551S | Missense | SNP | 0.326 | 2 | - | - |
LACTB2 | - | - | - | - | 3 | Gain | - |
LAD1 | - | - | - | - | 3 | Gain | - |
LAMA3 | p.D2166Mfs*42 | Frame_Shift_Del | DEL | 0.473 | 2 | - | - |
LAMB1 | p.A59T | Missense | SNP | 0.481 | 2 | - | - |
LAMB3 | - | - | - | - | 3 | Gain | - |
LAMC1 | - | - | - | - | 3 | Gain | - |
LAMC2 | - | - | - | - | 3 | Gain | - |
LAMTOR2 | - | - | - | - | 3 | Gain | - |
LAPTM4B | - | - | - | - | 3 | Gain | - |
LATS2 | p.P344Rfs*89 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
LAX1 | - | - | - | - | 3 | Gain | - |
LBR | - | - | - | - | 3 | Gain | - |
LCE1A | - | - | - | - | 3 | Gain | - |
LCE1B | - | - | - | - | 3 | Gain | - |
LCE1C | - | - | - | - | 3 | Gain | - |
LCE1D | - | - | - | - | 3 | Gain | - |
LCE1E | - | - | - | - | 3 | Gain | - |
LCE1F | - | - | - | - | 3 | Gain | - |
LCE2A | - | - | - | - | 3 | Gain | - |
LCE2B | - | - | - | - | 3 | Gain | - |
LCE2C | - | - | - | - | 3 | Gain | - |
LCE2D | - | - | - | - | 3 | Gain | - |
LCE3A | - | - | - | - | 3 | Gain | - |
LCE3D | - | - | - | - | 3 | Gain | - |
LCE3E | - | - | - | - | 3 | Gain | - |
LCE4A | - | - | - | - | 3 | Gain | - |
LCE5A | - | - | - | - | 3 | Gain | - |
LCE6A | - | - | - | - | 3 | Gain | - |
LCTL | p.A55T | Missense | SNP | 0.519 | 2 | - | - |
LEFTY1 | - | - | - | - | 3 | Gain | - |
LEFTY2 | - | - | - | - | 3 | Gain | - |
LELP1 | - | - | - | - | 3 | Gain | - |
LEMD1 | - | - | - | - | 3 | Gain | - |
LENEP | - | - | - | - | 3 | Gain | - |
LGALS8 | - | - | - | - | 3 | Gain | - |
LGALS9 | p.G346Afs*5 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
LGR6 | - | - | - | - | 3 | Gain | - |
LHX4 | p.P378T | Missense | SNP | 0.344 | 3 | Gain | - |
LHX5 | p.A325V | Missense | SNP | 0.495 | 2 | - | - |
LHX9 | - | - | - | - | 3 | Gain | - |
LILRA4 | p.W496* | Nonsense | SNP | 0.427 | 2 | - | - |
LIMA1 | p.N470Kfs*2 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
LIN9 | - | - | - | - | 3 | Gain | - |
LINGO4 | - | - | - | - | 3 | Gain | - |
LIX1L | - | - | - | - | 3 | Gain | - |
LKAAEAR1 | p.R61H | Missense | SNP | 0.432 | 2 | - | - |
LMNA | - | - | - | - | 3 | Gain | - |
LMOD1 | - | - | - | - | 3 | Gain | - |
LMX1A | - | - | - | - | 3 | Gain | - |
LOR | p.G124D | Missense | SNP | 0.651 | 3 | Gain | - |
LOXHD1 | p.D2200Mfs*22 p.E1003V | Frame_Shift_Del Missense | DEL SNP | 0.433 0.471 | 2 | - | - |
LOXL1 | p.A216G | Missense | SNP | 0.430 | 2 | - | - |
LPAR2 | p.R62C | Missense | SNP | 0.458 | 2 | - | - |
LPAR4 | p.L22F | Missense | SNP | 0.462 | ND | ND | - |
LPGAT1 | - | - | - | - | 3 | Gain | - |
LRIG1 | p.F658Sfs*5 | Frame_Shift_Del | DEL | 0.383 | 2 | - | - |
LRP12 | - | - | - | - | 3 | Gain | - |
LRP1B | p.K1497T | Missense | SNP | 0.534 | 2 | - | - |
LRP4 | p.Q1550H | Missense | SNP | 0.522 | 2 | - | - |
LRP6 | p.T1529P | Missense | SNP | 0.500 | 2 | - | - |
LRPPRC | p.F1258Sfs*47 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
LRRC14 | - | - | - | - | 3 | Gain | - |
LRRC16A | p.K1033del | In_Frame_Del | DEL | 0.432 | ND | ND | - |
LRRC24 | - | - | - | - | 3 | Gain | - |
LRRC26 | p.L242* | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
LRRC43 | p.P480S | Missense | SNP | 0.461 | 2 | - | - |
LRRC52 | - | - | - | - | 3 | Gain | - |
LRRC56 | p.P434Qfs*66 | Frame_Shift_Del | DEL | 0.483 | 2 | - | - |
LRRC58 | p.Q349H | Missense | SNP | 0.400 | 2 | - | - |
LRRC6 | - | - | - | - | 3 | Gain | - |
LRRC63 | p.D139E | Missense | SNP | 0.491 | 2 | - | - |
LRRC69 | - | - | - | - | 3 | Gain | - |
LRRC71 | - | - | - | - | 3 | Gain | - |
LRRCC1 | - | - | - | - | 3 | Gain | - |
LRRIQ3 | p.Q375Tfs*21 | Frame_Shift_Ins | INS | 0.275 | 2 | - | - |
LRRK2 | p.F164C | Missense | SNP | 0.492 | 2 | - | - |
LRRN2 | - | - | - | - | 3 | Gain | - |
LRRN3 | p.L190P | Missense | SNP | 0.419 | 2 | - | - |
LRRTM3 | p.P397L | Missense | SNP | 0.476 | 2 | - | - |
LRSAM1 | p.K292T | Missense | SNP | 0.507 | 2 | - | - |
LSM14B | p.R60Efs*83 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
LTBP3 | p.C894Sfs*29 | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
LUZP2 | p.I157Sfs*5 | Frame_Shift_Del | DEL | 0.522 | 2 | - | - |
LY6D | - | - | - | - | 3 | Gain | - |
LY6E | - | - | - | - | 3 | Gain | - |
LY6H | p.C49Y | Missense | SNP | 0.308 | 3 | Gain | - |
LY6K | - | - | - | - | 3 | Gain | - |
LY6L | - | - | - | - | 3 | Gain | - |
LY9 | - | - | - | - | 3 | Gain | - |
LY96 | - | - | - | - | 3 | Gain | - |
LYAR | p.K286Rfs*2 | Frame_Shift_Del | DEL | 0.667 | 2 | - | - |
LYN | - | - | - | - | 3 | Gain | - |
LYNX1 | - | - | - | - | 3 | Gain | - |
LYNX1-SLURP2 | - | - | - | - | 3 | Gain | - |
LYPD2 | - | - | - | - | 3 | Gain | - |
LYPD8 | - | - | - | - | 3 | Gain | - |
LYPLA1 | - | - | - | - | 3 | Gain | - |
LYPLA2 | p.A166Pfs*28 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
LYPLAL1 | - | - | - | - | 3 | Gain | - |
LYSMD1 | - | - | - | - | 3 | Gain | - |
LYST | - | - | - | - | 3 | Gain | - |
LZIC | p.K190Nfs*16 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
MAEL | - | - | - | - | 3 | Gain | - |
MAF1 | - | - | - | - | 3 | Gain | - |
MAFA | p.G84Rfs*353 | Frame_Shift_Ins | INS | 0.162 | 3 | Gain | - |
MAGEA8 | p.G15D | Missense | SNP | 0.450 | ND | ND | - |
MAGEE1 | p.A20T | Missense | SNP | 0.468 | ND | ND | - |
MAGI1 | p.P1351L | Missense | SNP | 0.466 | 2 | - | - |
MAL2 | - | - | - | - | 3 | Gain | - |
MAP10 | - | - | - | - | 3 | Gain | - |
MAP1A | p.R879H | Missense | SNP | 0.464 | 2 | - | - |
MAP1B | p.V1048A | Missense | SNP | 0.507 | 2 | - | - |
MAP1LC3C | - | - | - | - | 3 | Gain | - |
MAP1S | p.P198Rfs*93 p.S595Vfs*62 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.088 0.306 | 2 | - | - |
MAP3K12 | p.S569Hfs*45 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
MAP3K21 | - | - | - | - | 3 | Gain | - |
MAP3K6 | p.G14S | Missense | SNP | 0.466 | 2 | - | - |
MAP4 | p.G1026* | Nonsense | SNP | 0.418 | 2 | - | - |
MAP7D2 | p.Q344* | Nonsense | SNP | 0.489 | ND | ND | - |
MAPK15 | - | - | - | - | 3 | Gain | - |
MAPK4 | p.R380C | Missense | SNP | 0.520 | 2 | - | - |
MAPKAPK2 | - | - | - | - | 3 | Gain | - |
MARC1 | p.A166T | Missense | SNP | 0.710 | 3 | Gain | - |
MARC2 | p.I322Lfs*4 p.S85N | Frame_Shift_Del Missense | DEL SNP | 0.301 0.641 | 3 | Gain | - |
MARCH6 | p.A195S | Missense | SNP | 0.301 | 2 | - | - |
MARK1 | - | - | - | - | 3 | Gain | - |
MARVELD1 | p.R14S | Missense | SNP | 0.430 | 2 | - | - |
MATN2 | - | - | - | - | 3 | Gain | - |
MAZ | p.A478Pfs*47 | Frame_Shift_Del | DEL | 0.445 | 2 | - | - |
MCL1 | - | - | - | - | 3 | Gain | - |
MCMDC2 | - | - | - | - | 3 | Gain | - |
MCOLN1 | p.R340W | Missense | SNP | 0.409 | 2 | - | - |
MCTP1 | p.K875Rfs*4 | Frame_Shift_Del | DEL | 0.571 | 2 | - | - |
MDM4 | - | - | - | - | 3 | Gain | - |
MED15 | p.G114D | Missense | SNP | 0.571 | 2 | - | - |
MED30 | - | - | - | - | 3 | Gain | - |
MEDAG | p.G69Afs*29 | Frame_Shift_Del | DEL | 0.912 | 2 | - | - |
MEF2D | - | - | - | - | 3 | Gain | - |
MEGF6 | p.R500W | Missense | SNP | 0.075 | 2 | - | - |
MESDC2 | p.K211Rfs*6 | Frame_Shift_Del | DEL | 0.362 | ND | ND | - |
METTL11B | - | - | - | - | 3 | Gain | - |
METTL13 | - | - | - | - | 3 | Gain | - |
METTL18 | - | - | - | - | 3 | Gain | - |
METTL21B | p.D73N | Missense | SNP | 0.534 | ND | ND | - |
MEX3A | - | - | - | - | 3 | Gain | - |
MEX3B | p.T182R | Missense | SNP | 0.500 | 2 | - | - |
MFRP | p.H384Tfs*94 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
MFSD2B | p.A272D | Missense | SNP | 0.512 | 2 | - | - |
MFSD3 | - | - | - | - | 3 | Gain | - |
MFSD4A | - | - | - | - | 3 | Gain | - |
MGST3 | - | - | - | - | 3 | Gain | - |
MIA3 | - | - | - | - | 3 | Gain | - |
MIB2 | p.V1070M | Missense | SNP | 0.441 | 2 | - | - |
MICAL1 | p.D299N | Missense | SNP | 0.513 | 2 | - | - |
MINDY1 | - | - | - | - | 3 | Gain | - |
MIXL1 | - | - | - | - | 3 | Gain | - |
MKI67 | p.N1872S | Missense | SNP | 0.424 | 2 | - | - |
MLH3 | p.R426K | Missense | MNP | 0.467 | 2 | - | - |
MLLT11 | - | - | - | - | 3 | Gain | - |
MMD2 | p.R5Gfs*14 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
MMP16 | - | - | - | - | 3 | Gain | - |
MMP21 | p.P134Rfs*43 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
MN1 | p.R614C | Missense | SNP | 0.568 | 2 | - | - |
MNDA | - | - | - | - | 3 | Gain | - |
MNX1 | p.S354I | Missense | SNP | 0.517 | 2 | - | - |
MON1A | p.R509C | Missense | SNP | 0.493 | 2 | - | - |
MORC3 | p.K468Rfs*14 | Frame_Shift_Del | DEL | 0.585 | 2 | - | - |
MOS | - | - | - | - | 3 | Gain | - |
MPC2 | - | - | - | - | 3 | Gain | - |
MPDU1 | - | - | - | - | 1 | Loss | - |
MPO | p.R174H | Missense | SNP | 0.504 | 2 | - | - |
MPP4 | p.G439V | Missense | SNP | 0.456 | 2 | - | - |
MPRIP | p.P353Qfs*30 | Frame_Shift_Del | DEL | 0.576 | 2 | - | - |
MPZ | p.R192M | Missense | SNP | 0.739 | 3 | Gain | - |
MPZL1 | - | - | - | - | 3 | Gain | - |
MR1 | - | - | - | - | 3 | Gain | - |
MRC2 | p.A797T | Missense | SNP | 0.427 | 2 | - | - |
MROH1 | - | - | - | - | 3 | Gain | - |
MROH5 | - | - | - | - | 3 | Gain | - |
MROH6 | - | - | - | - | 3 | Gain | - |
MROH9 | - | - | - | - | 3 | Gain | - |
MRPL13 | - | - | - | - | 3 | Gain | - |
MRPL15 | - | - | - | - | 3 | Gain | - |
MRPL22 | p.A108Pfs*3 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
MRPL24 | - | - | - | - | 3 | Gain | - |
MRPL55 | - | - | - | - | 3 | Gain | - |
MRPL9 | - | - | - | - | 3 | Gain | - |
MRPS14 | - | - | - | - | 3 | Gain | - |
MRPS21 | - | - | - | - | 3 | Gain | - |
MRPS28 | - | - | - | - | 3 | Gain | - |
MRVI1 | p.P714H | Missense | SNP | 0.511 | 2 | - | - |
MSC | - | - | - | - | 3 | Gain | - |
MSH6 | p.F1088Lfs*5 | Frame_Shift_Ins | INS | 0.273 | 2 | - | - |
MSTO1 | - | - | - | - | 3 | Gain | - |
MT1HL1 | - | - | - | - | 3 | Gain | - |
MTBP | p.E12Kfs*39 | Frame_Shift_Del | DEL | 0.286 | 3 | Gain | - |
MTDH | - | - | - | - | 3 | Gain | - |
MTERF3 | - | - | - | - | 3 | Gain | - |
MTFR1 | - | - | - | - | 3 | Gain | - |
MTFR2 | p.V17I | Missense | SNP | 0.391 | 2 | - | - |
MTMR1 | p.G34Afs*29 | Frame_Shift_Del | DEL | 0.259 | ND | ND | - |
MTMR11 | - | - | - | - | 3 | Gain | - |
MTMR14 | p.R204Q | Missense | SNP | 0.444 | 2 | - | - |
MTNR1A | p.V311I | Missense | SNP | 0.463 | 2 | - | - |
MTR | - | - | - | - | 3 | Gain | - |
MTSS1 | - | - | - | - | 3 | Gain | - |
MTX1 | - | - | - | - | 3 | Gain | - |
MUC1 | - | - | - | - | 3 | Gain | - |
MUC12 | - | - | - | - | 3 | Gain | - |
MUC16 | p.P3580T | Missense | SNP | 0.511 | 2 | - | - |
MUC17 | p.V1480I | Missense | SNP | 0.445 | 3 | Gain | - |
MXRA8 | p.R301Gfs*107 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
MYBL1 | - | - | - | - | 3 | Gain | - |
MYBPH | - | - | - | - | 3 | Gain | - |
MYC | - | - | - | - | 3 | Gain | - |
MYCBP2 | p.S3084Y | Missense | SNP | 0.410 | 2 | - | - |
MYEOV | p.W272Gfs*66 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
MYF6 | p.K83T p.T84A | Missense Missense | SNP SNP | 0.544 0.531 | 2 | - | - |
MYH7 | p.A1804T | Missense | SNP | 0.514 | 2 | - | - |
MYO15A | p.K1048Rfs*10 | Frame_Shift_Del | DEL | 0.394 | 2 | - | - |
MYO3A | p.M1192* | Frame_Shift_Del | DEL | 0.200 | 2 | - | - |
MYO9A | p.Y1422Ifs*8 p.D529Y | Frame_Shift_Del Missense | DEL SNP | 0.946 0.506 | 2 | - | - |
MYO9B | p.L1111* | Frame_Shift_Del | DEL | 0.068 | 2 | - | - |
MYOC | - | - | - | - | 3 | Gain | - |
MYOCOS | - | - | - | - | 3 | Gain | - |
MYOG | - | - | - | - | 3 | Gain | - |
N4BP2 | p.L1092R | Missense | SNP | 0.479 | 2 | - | - |
NAA11 | p.E208D | Missense | SNP | 0.531 | 2 | - | - |
NANOS1 | p.R13L | Missense | SNP | 0.535 | 2 | - | - |
NAP1L3 | p.N95H | Missense | SNP | 0.488 | ND | ND | - |
NAPRT | - | - | - | - | 3 | Gain | - |
NAV1 | - | - | - | - | 3 | Gain | - |
NAV2 | p.C220Y | Missense | SNP | 0.490 | 2 | - | - |
NAXE | - | - | - | - | 3 | Gain | - |
NBN | p.R466Gfs*18 | Frame_Shift_Del | DEL | 0.193 | 3 | Gain | - |
NBPF10 | - | - | - | - | 3 | Gain | - |
NBPF11 | - | - | - | - | 3 | Gain | - |
NBPF12 | - | - | - | - | 3 | Gain | - |
NBPF14 | - | - | - | - | 3 | Gain | - |
NBPF15 | p.Y385H | Missense | SNP | 0.333 | 3 | Gain | - |
NBPF19 | - | - | - | - | 3 | Gain | - |
NBPF20 | - | - | - | - | 3 | Gain | - |
NBPF9 | - | - | - | - | 3 | Gain | - |
NCALD | - | - | - | - | 3 | Gain | - |
NCAPG2 | p.C1069Lfs*33 | Frame_Shift_Del | DEL | 0.559 | 2 | - | - |
NCF2 | - | - | - | - | 3 | Gain | - |
NCK2 | p.T202M | Missense | SNP | 0.467 | 2 | - | - |
NCOA2 | - | - | - | - | 3 | Gain | - |
NCOA3 | p.S1337L | Missense | SNP | 0.554 | 2 | - | - |
NCSTN | - | - | - | - | 3 | Gain | - |
NDN | p.D66N | Missense | SNP | 0.448 | 2 | - | - |
NDRG1 | - | - | - | - | 3 | Gain | - |
NDUFA12 | - | - | - | - | 1 | Loss | - |
NDUFAF6 | - | - | - | - | 3 | Gain | - |
NDUFB9 | - | - | - | - | 3 | Gain | - |
NDUFS2 | - | - | - | - | 3 | Gain | - |
NECAB1 | p.S25P | Missense | SNP | 0.364 | 3 | Gain | - |
NECTIN4 | - | - | - | - | 3 | Gain | - |
NEDD4L | p.F242Lfs*32 p.N156Mfs*51 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.453 0.481 | 2 | - | - |
NEDD9 | p.A316T | Missense | SNP | 0.457 | 2 | - | - |
NEK1 | p.V665Cfs*34 | Frame_Shift_Del | DEL | 0.522 | 2 | - | - |
NEK2 | - | - | - | - | 3 | Gain | - |
NEK7 | - | - | - | - | 3 | Gain | - |
NELFCD | p.K381N | Missense | SNP | 0.471 | 2 | - | - |
NENF | - | - | - | - | 3 | Gain | - |
NES | - | - | - | - | 3 | Gain | - |
NEU1 | p.K46N | Missense | SNP | 0.536 | 2 | - | - |
NEU4 | p.S266G | Missense | SNP | 0.483 | 2 | - | - |
NEURL3 | p.D100N | Missense | SNP | 0.512 | 2 | - | - |
NFASC | p.R56Vfs*5 | Frame_Shift_Del | DEL | 0.634 | 3 | Gain | - |
NFATC4 | p.A228Gfs*23 | Frame_Shift_Ins | INS | 0.264 | 2 | - | - |
NFKBID | p.D273N | Missense | SNP | 0.450 | 2 | - | - |
NFYC | p.R133C | Missense | SNP | 0.489 | 2 | - | - |
NHLH1 | - | - | - | - | 3 | Gain | - |
NID1 | - | - | - | - | 3 | Gain | - |
NIPAL2 | - | - | - | - | 3 | Gain | - |
NIT1 | - | - | - | - | 3 | Gain | - |
NKAIN3 | - | - | - | - | 3 | Gain | - |
NKAIN4 | p.Q153* | Nonsense | SNP | 0.494 | 2 | - | - |
NKX2-2 | p.D14N | Missense | SNP | 0.445 | 2 | - | - |
NLK | p.F192Lfs*30 | Frame_Shift_Del | DEL | 0.404 | 2 | - | - |
NLRC5 | p.F487Lfs*8 | Frame_Shift_Del | DEL | 0.445 | 2 | - | - |
NLRP12 | p.R754C | Missense | SNP | 0.460 | 2 | - | - |
NLRP3 | p.A67V | Missense | SNP | 0.342 | 3 | Gain | - |
NLRP9 | p.K264Rfs*12 p.S7Rfs*9 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.467 0.467 | 2 | - | - |
NME7 | - | - | - | - | 3 | Gain | - |
NMNAT2 | - | - | - | - | 3 | Gain | - |
NOS1AP | - | - | - | - | 3 | Gain | - |
NOTCH2NLA | - | - | - | - | 3 | Gain | - |
NOV | - | - | - | - | 3 | Gain | - |
NOVA1 | p.P34Lfs*19 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
NPAS4 | p.F704V | Missense | SNP | 0.566 | 2 | - | - |
NPAT | p.S548Vfs*11 | Frame_Shift_Del | DEL | 0.225 | 2 | - | - |
NPBWR1 | - | - | - | - | 3 | Gain | - |
NPHS2 | - | - | - | - | 3 | Gain | - |
NPL | - | - | - | - | 3 | Gain | - |
NPR1 | - | - | - | - | 3 | Gain | - |
NPR2 | p.D1022Mfs*4 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
NPTX2 | p.V123I | Missense | SNP | 0.394 | 2 | - | - |
NPY1R | p.A191E | Missense | SNP | 0.507 | 2 | - | - |
NR1D1 | p.G426E | Missense | SNP | 0.514 | 2 | - | - |
NR1I3 | - | - | - | - | 3 | Gain | - |
NR2C1 | - | - | - | - | 1 | Loss | - |
NR5A2 | - | - | - | - | 3 | Gain | - |
NRBP2 | - | - | - | - | 3 | Gain | - |
NSL1 | - | - | - | - | 3 | Gain | - |
NSMAF | - | - | - | - | 3 | Gain | - |
NSMCE2 | - | - | - | - | 3 | Gain | - |
NTPCR | - | - | - | - | 3 | Gain | - |
NTRK1 | - | - | - | - | 3 | Gain | - |
NTRK3 | p.K367N | Missense | SNP | 0.538 | 2 | - | - |
NUAK2 | - | - | - | - | 3 | Gain | - |
NUCKS1 | - | - | - | - | 3 | Gain | - |
NUDCD1 | - | - | - | - | 3 | Gain | - |
NUDT17 | - | - | - | - | 3 | Gain | - |
NUDT4B | - | - | - | - | 3 | Gain | - |
NUF2 | p.*465Sext*9 | Nonstop | SNP | 0.508 | 3 | Gain | - |
NUP133 | - | - | - | - | 3 | Gain | - |
NUP153 | p.P665T | Missense | SNP | 0.558 | 2 | - | - |
NUP205 | p.P1379S | Missense | SNP | 0.641 | 2 | - | - |
NUP210L | - | - | - | - | 3 | Gain | - |
NUTM1 | p.P588T | Missense | SNP | 0.467 | 2 | - | - |
NVL | - | - | - | - | 3 | Gain | - |
NYAP1 | p.P182Qfs*21 p.P821H | Frame_Shift_Del Missense | DEL SNP | 0.425 0.441 | 2 | - | - |
OAZ3 | - | - | - | - | 3 | Gain | - |
OBSCN | p.A7950Pfs*79 p.R541H p.S654N | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.592 0.317 0.311 | 3 | Gain | - |
OBSL1 | p.E664G | Missense | SNP | 0.448 | 2 | - | - |
OC90 | - | - | - | - | 3 | Gain | - |
OCLM | - | - | - | - | 3 | Gain | - |
ODF1 | - | - | - | - | 3 | Gain | - |
ODR4 | - | - | - | - | 3 | Gain | - |
OFD1 | p.Q703R | Missense | SNP | 0.518 | ND | ND | - |
OLFM1 | p.G31D | Missense | SNP | 0.471 | 2 | - | - |
OLFM3 | p.W357R | Missense | SNP | 0.572 | 2 | - | - |
OLFML2A | p.E336K | Missense | SNP | 0.422 | 2 | - | - |
OLFML2B | - | - | - | - | 3 | Gain | - |
OLIG1 | p.P184L | Missense | SNP | 0.477 | 2 | - | - |
OLIG2 | p.R56C | Missense | SNP | 0.545 | 2 | - | - |
OPLAH | - | - | - | - | 3 | Gain | - |
OPN3 | p.V62A | Missense | SNP | 0.722 | 3 | Gain | - |
OPRK1 | - | - | - | - | 3 | Gain | - |
OPTC | - | - | - | - | 3 | Gain | - |
OR10A6 | p.G202C | Missense | SNP | 0.632 | 2 | - | - |
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 | p.G41R | Missense | SNP | 0.734 | 3 | Gain | - |
OR13G1 | - | - | - | - | 3 | Gain | - |
OR14A16 | - | - | - | - | 3 | Gain | - |
OR14C36 | - | - | - | - | 3 | Gain | - |
OR1A2 | p.L249Yfs*14 | Frame_Shift_Del | DEL | 0.560 | 2 | - | - |
OR1C1 | - | - | - | - | 3 | Gain | - |
OR2A42 | p.M58Cfs*40 | Frame_Shift_Del | DEL | 0.276 | 2 | - | - |
OR2AK2 | - | - | - | - | 3 | Gain | - |
OR2B11 | - | - | - | - | 3 | Gain | - |
OR2C3 | - | - | - | - | 3 | Gain | - |
OR2G2 | - | - | - | - | 3 | Gain | - |
OR2G3 | - | - | - | - | 3 | Gain | - |
OR2G6 | p.R172H | Missense | SNP | 0.343 | 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 | p.R235H | Missense | SNP | 0.386 | 3 | Gain | - |
OR2T1 | - | - | - | - | 3 | Gain | - |
OR2T10 | - | - | - | - | 3 | Gain | - |
OR2T11 | - | - | - | - | 3 | Gain | - |
OR2T12 | - | - | - | - | 3 | Gain | - |
OR2T2 | p.I69T | Missense | SNP | 0.386 | 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 | - |
OR52E4 | p.R264C | Missense | SNP | 0.536 | 2 | - | - |
OR5A1 | p.G210R | Missense | SNP | 0.432 | 2 | - | - |
OR5AR1 | p.G16C | Missense | SNP | 0.453 | 2 | - | - |
OR5D18 | p.M60Cfs*25 | Frame_Shift_Del | DEL | 0.554 | 2 | - | - |
OR5H2 | p.G69E | Missense | SNP | 0.440 | 2 | - | - |
OR6C74 | p.A235Hfs*24 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
OR6F1 | - | - | - | - | 3 | Gain | - |
OR6K2 | - | - | - | - | 3 | Gain | - |
OR6K3 | - | - | - | - | 3 | Gain | - |
OR6K6 | - | - | - | - | 3 | Gain | - |
OR6N1 | - | - | - | - | 3 | Gain | - |
OR6N2 | - | - | - | - | 3 | Gain | - |
OR6P1 | p.F32Lfs*6 | Frame_Shift_Del | DEL | 0.202 | 3 | Gain | - |
OR6Y1 | - | - | - | - | 3 | Gain | - |
OR8D4 | p.R50* | Frame_Shift_Ins | INS | 0.357 | 2 | - | - |
ORC4 | p.G146Vfs*9 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
OSGIN2 | - | - | - | - | 3 | Gain | - |
OSMR | - | - | - | - | 1 | Loss | - |
OSR2 | p.Y179Ifs*79 | Frame_Shift_Del | DEL | 0.302 | 3 | Gain | - |
OTUD6B | - | - | - | - | 3 | Gain | - |
OTUD7B | - | - | - | - | 3 | Gain | - |
OTX1 | p.T170A | Missense | SNP | 0.463 | 2 | - | - |
OXR1 | - | - | - | - | 3 | Gain | - |
P2RX2 | p.N394del | In_Frame_Del | DEL | 0.452 | 2 | - | - |
P2RY14 | p.F246Lfs*31 | Frame_Shift_Del | DEL | 0.454 | 2 | - | - |
P4HTM | p.L416Cfs*6 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
PABPC1 | - | - | - | - | 3 | Gain | - |
PAG1 | - | - | - | - | 3 | Gain | - |
PALB2 | p.V858G | Missense | SNP | 0.485 | 2 | - | - |
PAPD7 | p.H529N | Missense | SNP | 0.482 | ND | ND | - |
PAPPA2 | - | - | - | - | 3 | Gain | - |
PAQR6 | - | - | - | - | 3 | Gain | - |
PAQR7 | p.A182T | Missense | SNP | 0.481 | 2 | - | - |
PARP1 | - | - | - | - | 3 | Gain | - |
PARP10 | - | - | - | - | 3 | Gain | - |
PARP16 | p.E127K | Missense | SNP | 0.310 | 2 | - | - |
PARP4 | p.P995L | Missense | SNP | 0.419 | 2 | - | - |
PATJ | p.N1270K | Missense | SNP | 0.537 | 2 | - | - |
PAX6 | p.W170L | Missense | SNP | 0.495 | 2 | - | - |
PBX1 | - | - | - | - | 3 | Gain | - |
PBXIP1 | - | - | - | - | 3 | Gain | - |
PCDH11X | p.V685A | Missense | SNP | 0.465 | ND | ND | - |
PCDH12 | p.L1065I | Missense | SNP | 0.535 | 2 | - | - |
PCDH17 | p.S557L | Missense | SNP | 0.483 | 2 | - | - |
PCDHA12 | p.D481G | Missense | SNP | 0.523 | 2 | - | - |
PCDHA9 | p.G572Afs*6 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
PCDHB10 | p.R289P | Missense | SNP | 0.064 | 2 | - | - |
PCDHB14 | p.Y417N | Missense | SNP | 0.397 | 2 | - | - |
PCDHB6 | p.R576Q | Missense | SNP | 0.486 | 2 | - | - |
PCDHB7 | p.G758R | Missense | SNP | 0.483 | 2 | - | - |
PCDHGA4 | p.D509Y | Missense | SNP | 0.595 | 2 | - | - |
PCDHGA8 | p.S336L p.I348V | Missense Missense | SNP SNP | 0.526 0.553 | 2 | - | - |
PCDHGB6 | p.T415I | Missense | SNP | 0.420 | 2 | - | - |
PCDHGC3 | p.D485N | Missense | SNP | 0.493 | 2 | - | - |
PCMTD1 | - | - | - | - | 3 | Gain | - |
PCMTD2 | p.P334Qfs*2 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
PCNX2 | - | - | - | - | 3 | Gain | - |
PCNX3 | p.V204I | Missense | SNP | 0.455 | 2 | - | - |
PCNX4 | p.Y851Mfs*19 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
PCP4L1 | - | - | - | - | 3 | Gain | - |
PDC | - | - | - | - | 3 | Gain | - |
PDE10A | p.L582P | Missense | SNP | 0.509 | 2 | - | - |
PDE1B | p.S523Ifs*6 | Frame_Shift_Ins | INS | 0.243 | 2 | - | - |
PDE4A | p.G337W | Missense | SNP | 0.446 | 2 | - | - |
PDE4DIP | - | - | - | - | 3 | Gain | - |
PDE7A | - | - | - | - | 3 | Gain | - |
PDP1 | - | - | - | - | 3 | Gain | - |
PDZD11 | p.P21H | Missense | SNP | 0.571 | ND | ND | - |
PDZD2 | p.D95Tfs*27 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
PDZD4 | p.V195D | Missense | SNP | 0.492 | ND | ND | - |
PDZD7 | p.D219N | Missense | SNP | 0.517 | 2 | - | - |
PDZK1 | - | - | - | - | 3 | Gain | - |
PDZRN3 | p.Q980H | Missense | SNP | 0.457 | 2 | - | - |
PEA15 | - | - | - | - | 3 | Gain | - |
PEAR1 | p.R956Gfs*30 | Frame_Shift_Del | DEL | 0.581 | 3 | Gain | - |
PELI3 | p.S343I | Missense | SNP | 0.486 | 2 | - | - |
PENK | - | - | - | - | 3 | Gain | - |
PEX11B | - | - | - | - | 3 | Gain | - |
PEX19 | - | - | - | - | 3 | Gain | - |
PEX2 | - | - | - | - | 3 | Gain | - |
PFDN2 | - | - | - | - | 3 | Gain | - |
PFKFB2 | - | - | - | - | 3 | Gain | - |
PGBD2 | - | - | - | - | 3 | Gain | - |
PGBD5 | p.D17Tfs*12 | Frame_Shift_Del | DEL | 0.337 | 3 | Gain | - |
PGGT1B | - | - | - | - | 2 | - | PGGT1B--CCDC112 |
PGLYRP3 | - | - | - | - | 3 | Gain | - |
PGLYRP4 | - | - | - | - | 3 | Gain | - |
PGM5 | p.S100L | Missense | SNP | 0.222 | 2 | - | - |
PHACTR4 | p.S64Vfs*12 | Frame_Shift_Del | DEL | 0.338 | 2 | - | - |
PHF20L1 | - | - | - | - | 3 | Gain | - |
PHKB | p.G644Efs*2 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
PHLDA1 | p.S396I | Missense | SNP | 0.478 | 2 | - | - |
PHLDA3 | - | - | - | - | 3 | Gain | - |
PHLPP2 | p.R1302Q | Missense | SNP | 0.508 | 2 | - | - |
PHOX2A | p.A68T | Missense | SNP | 0.478 | 2 | - | - |
PI15 | - | - | - | - | 3 | Gain | - |
PI4KB | - | - | - | - | 3 | Gain | - |
PIAS3 | - | - | - | - | 3 | Gain | - |
PIDD1 | p.R674C | Missense | SNP | 0.479 | 2 | - | - |
PIF1 | p.R35H | Missense | SNP | 0.518 | 2 | - | - |
PIGC | - | - | - | - | 3 | Gain | - |
PIGM | - | - | - | - | 3 | Gain | - |
PIGQ | p.S591A | Missense | SNP | 0.560 | 2 | - | - |
PIGR | p.C279* p.G760D p.R272* | Nonsense Missense Nonsense | DEL SNP SNP | 0.315 0.595 0.661 | 3 | Gain | - |
PIK3C2B | p.R287Afs*92 | Frame_Shift_Del | DEL | 0.319 | 3 | Gain | - |
PIK3C2G | p.I1080F | Missense | SNP | 0.479 | 2 | - | - |
PIK3CA | p.E545G | Missense | SNP | 0.464 | 2 | - | - |
PIKFYVE | p.P1393Q | Missense | SNP | 0.077 | 2 | - | - |
PIP4P2 | - | - | - | - | 3 | Gain | - |
PIP5K1A | - | - | - | - | 3 | Gain | - |
PIRT | p.S129N p.I56V | Missense Missense | SNP SNP | 0.494 0.504 | 2 | - | - |
PITPNM1 | p.R169Q | Missense | SNP | 0.530 | 2 | - | - |
PKD1L1 | p.T2182A | Missense | SNP | 0.479 | 2 | - | - |
PKHD1L1 | p.A1274V | Missense | SNP | 0.310 | 3 | Gain | - |
PKIA | - | - | - | - | 3 | Gain | - |
PKLR | - | - | - | - | 3 | Gain | - |
PKP1 | - | - | - | - | 3 | Gain | - |
PLA2G4A | - | - | - | - | 3 | Gain | - |
PLA2G6 | p.A209T | Missense | SNP | 0.506 | 2 | - | - |
PLA2R1 | p.G1374Afs*32 | Frame_Shift_Del | DEL | 0.698 | 2 | - | - |
PLAG1 | - | - | - | - | 3 | Gain | - |
PLCB1 | p.A396V | Missense | SNP | 0.393 | 2 | - | - |
PLCE1 | p.G2035D | Missense | SNP | 0.505 | 2 | - | - |
PLCZ1 | p.S271Y | Missense | SNP | 0.468 | 2 | - | - |
PLD5 | - | - | - | - | 3 | Gain | - |
PLEC | p.A4361T | Missense | SNP | 0.319 | 3 | Gain | - |
PLEKHA4 | p.V347A | Missense | SNP | 0.558 | 2 | - | - |
PLEKHA6 | - | - | - | - | 3 | Gain | - |
PLEKHA7 | p.F802Sfs*21 p.V560A | Frame_Shift_Del Missense | DEL SNP | 0.390 0.472 | 2 | - | - |
PLEKHF2 | - | - | - | - | 3 | Gain | - |
PLEKHG3 | p.S680N | Missense | SNP | 0.505 | 2 | - | - |
PLEKHO1 | - | - | - | - | 3 | Gain | - |
PLIN2 | p.S129F | Missense | SNP | 0.487 | 2 | - | - |
PLK3 | p.N338Tfs*35 | Frame_Shift_Del | DEL | 0.541 | 2 | - | - |
PLSCR2 | p.G55D | Missense | SNP | 0.389 | 2 | - | - |
PLXNA1 | p.S644F | Missense | SNP | 0.314 | 2 | - | - |
PLXNA2 | - | - | - | - | 3 | Gain | - |
PM20D1 | - | - | - | - | 3 | Gain | - |
PMEL | p.A537Cfs*37 | Frame_Shift_Ins | INS | 0.343 | 2 | - | - |
PMF1 | - | - | - | - | 3 | Gain | - |
PMF1-BGLAP | - | - | - | - | 3 | Gain | - |
PML | p.E27Rfs*71 p.I548L | Frame_Shift_Del Missense | DEL SNP | 0.397 0.652 | 2 | - | - |
PMP2 | - | - | - | - | 3 | Gain | - |
PMVK | - | - | - | - | 3 | Gain | - |
PNPLA3 | p.M281T | Missense | SNP | 0.549 | 2 | - | - |
PNPLA7 | p.I1200Sfs*148 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
POGK | p.K598Rfs*3 | Frame_Shift_Del | DEL | 0.558 | 3 | Gain | - |
POGZ | - | - | - | - | 3 | Gain | - |
POLD1 | p.P116Hfs*53 | Frame_Shift_Del | DEL | 0.544 | 2 | - | - |
POLE | p.Q1280* | Nonsense | SNP | 0.426 | 2 | - | - |
POLR2K | - | - | - | - | 3 | Gain | - |
POLR3C | - | - | - | - | 3 | Gain | - |
POLR3GL | - | - | - | - | 3 | Gain | - |
POP1 | - | - | - | - | 3 | Gain | - |
PORCN | p.H346R | Missense | SNP | 0.446 | ND | ND | - |
POU2F1 | - | - | - | - | 3 | Gain | - |
POU2F2 | p.A441Gfs*61 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
POU3F1 | p.G168Rfs*119 | Frame_Shift_Ins | INS | 0.323 | 2 | - | - |
POU3F2 | p.S429Vfs*60 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
POU5F1B | - | - | - | - | 3 | Gain | - |
POU5F2 | p.V174I | Missense | SNP | 0.525 | 2 | - | - |
PPDPFL | - | - | - | - | 3 | Gain | - |
PPFIA3 | p.E826K | Missense | SNP | 0.467 | 2 | - | - |
PPFIA4 | - | - | - | - | 3 | Gain | - |
PPOX | - | - | - | - | 3 | Gain | - |
PPP1R12B | - | - | - | - | 3 | Gain | - |
PPP1R15B | - | - | - | - | 3 | Gain | - |
PPP1R16A | - | - | - | - | 3 | Gain | - |
PPP1R26 | p.P581H | Missense | SNP | 0.547 | 2 | - | - |
PPP1R42 | - | - | - | - | 3 | Gain | - |
PPP2R3A | p.S16I | Missense | SNP | 0.562 | 2 | - | - |
PPP2R5A | - | - | - | - | 3 | Gain | - |
PPP2R5B | p.L285Pfs*60 | Frame_Shift_Ins | INS | 0.330 | 2 | - | - |
PPP4C | p.G165W | Missense | SNP | 0.547 | 2 | - | - |
PPP6R2 | p.S171G p.Q467* p.A914S | Missense Nonsense Missense | SNP SNP SNP | 0.552 0.452 0.082 | 2 | - | - |
PRCC | - | - | - | - | 3 | Gain | - |
PRDM14 | - | - | - | - | 3 | Gain | - |
PRDM6 | p.A163T | Missense | SNP | 0.462 | 2 | - | - |
PRDX4 | p.G38* | Nonsense | SNP | 0.489 | ND | ND | - |
PRDX6 | - | - | - | - | 3 | Gain | - |
PRELP | - | - | - | - | 3 | Gain | - |
PREX2 | p.S565Rfs*10 p.R52* | Frame_Shift_Del Nonsense | DEL SNP | 0.357 0.067 | 3 | Gain | - |
PRG4 | - | - | - | - | 3 | Gain | - |
PRKAB2 | - | - | - | - | 3 | Gain | - |
PRMT2 | p.V389I | Missense | SNP | 0.502 | 2 | - | - |
PRMT9 | p.P392L | Missense | SNP | 0.327 | 2 | - | - |
PROCA1 | p.P158T | Missense | SNP | 0.427 | 2 | - | - |
PROKR1 | p.P45L | Missense | SNP | 0.461 | 2 | - | - |
PROX1 | - | - | - | - | 3 | Gain | - |
PRPF3 | - | - | - | - | 3 | Gain | - |
PRPS2 | p.H126R | Missense | SNP | 0.515 | ND | ND | - |
PRR12 | p.R284C | Missense | SNP | 0.511 | 2 | - | - |
PRR13 | p.N17Ifs*75 | Frame_Shift_Del | DEL | 0.566 | 2 | - | - |
PRR27 | p.K17N | Missense | SNP | 0.531 | 2 | - | - |
PRR35 | p.A479V | Missense | SNP | 0.505 | 2 | - | - |
PRR36 | p.P702H | Missense | SNP | 0.525 | 2 | - | - |
PRR5-ARHGAP8 | p.P342Lfs*3 | Frame_Shift_Del | DEL | 0.526 | 2 | - | - |
PRR9 | - | - | - | - | 3 | Gain | - |
PRRC2A | p.Q1948R | Missense | SNP | 0.550 | 2 | - | - |
PRRC2C | - | - | - | - | 3 | Gain | - |
PRRG3 | p.S193Pfs*5 | Frame_Shift_Del | DEL | 0.490 | ND | ND | - |
PRRX1 | - | - | - | - | 3 | Gain | - |
PRSS12 | p.D819N | Missense | SNP | 0.473 | 2 | - | - |
PRSS38 | - | - | - | - | 3 | Gain | - |
PRUNE1 | - | - | - | - | 3 | Gain | - |
PSCA | - | - | - | - | 3 | Gain | - |
PSEN2 | - | - | - | - | 3 | Gain | - |
PSKH2 | p.G211W | Missense | SNP | 0.311 | 3 | Gain | - |
PSMA8 | p.K50Nfs*12 | Frame_Shift_Del | DEL | 0.527 | 2 | - | - |
PSMB4 | - | - | - | - | 3 | Gain | - |
PSMD13 | p.I304Nfs*5 | Frame_Shift_Ins | INS | 0.313 | 2 | - | - |
PSMD4 | - | - | - | - | 3 | Gain | - |
PSME4 | p.G72D | Missense | SNP | 0.533 | 2 | - | - |
PTCD3 | p.V347A | Missense | SNP | 0.509 | 2 | - | - |
PTCHD3 | p.F588Lfs*18 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
PTDSS1 | - | - | - | - | 3 | Gain | - |
PTEN | p.P246L | Missense | SNP | 0.485 | 2 | - | - |
PTGER4 | p.R291* | Nonsense | SNP | 0.474 | 2 | - | - |
PTGS2 | - | - | - | - | 3 | Gain | - |
PTK2 | - | - | - | - | 3 | Gain | - |
PTP4A3 | - | - | - | - | 3 | Gain | - |
PTPN14 | - | - | - | - | 3 | Gain | - |
PTPN7 | - | - | - | - | 3 | Gain | - |
PTPRC | - | - | - | - | 3 | Gain | - |
PTPRK | - | - | - | - | 2 | - | PTPRK--RSPO3 |
PTPRN2 | p.E260Rfs*52 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
PTPRZ1 | p.E1179G | Missense | SNP | 0.505 | 2 | - | - |
PUF60 | - | - | - | - | 3 | Gain | - |
PXDN | p.A758Rfs*109 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
PXDNL | - | - | - | - | 3 | Gain | - |
PXT1 | p.V44A | Missense | SNP | 0.360 | 2 | - | - |
PYCR2 | - | - | - | - | 3 | Gain | - |
PYCR3 | - | - | - | - | 3 | Gain | - |
PYGM | p.A443T | Missense | SNP | 0.518 | 2 | - | - |
PYGO2 | - | - | - | - | 3 | Gain | - |
PYHIN1 | - | - | - | - | 3 | Gain | - |
QKI | p.K134Rfs*14 | Frame_Shift_Del | DEL | 0.562 | 2 | - | - |
QSER1 | p.P965S | Missense | SNP | 0.425 | 2 | - | - |
QSOX1 | - | - | - | - | 3 | Gain | - |
R3HDM2 | p.D913Tfs*41 | Frame_Shift_Del | DEL | 0.371 | 2 | - | - |
RAB11FIP1 | p.A1130Pfs*50 | Frame_Shift_Del | DEL | 0.540 | 2 | - | - |
RAB11FIP2 | p.A7T | Missense | SNP | 0.507 | 2 | - | - |
RAB13 | - | - | - | - | 3 | Gain | - |
RAB25 | - | - | - | - | 3 | Gain | - |
RAB29 | - | - | - | - | 3 | Gain | - |
RAB2A | - | - | - | - | 3 | Gain | - |
RAB3C | p.F167L | Missense | SNP | 0.472 | 2 | - | - |
RAB3GAP2 | - | - | - | - | 3 | Gain | - |
RAB3IP | p.X244_splice | Splice_Site | SNP | 0.404 | 2 | - | - |
RAB4A | - | - | - | - | 3 | Gain | - |
RABAC1 | p.Q181* | Nonsense | SNP | 0.504 | 2 | - | - |
RABGAP1L | - | - | - | - | 3 | Gain | - |
RABIF | - | - | - | - | 3 | Gain | - |
RAD21 | p.T366A | Missense | SNP | 0.380 | 3 | Gain | - |
RAD51AP2 | p.T316Nfs*13 | Frame_Shift_Ins | INS | 0.344 | 2 | - | - |
RAD54B | - | - | - | - | 3 | Gain | - |
RALGPS2 | - | - | - | - | 3 | Gain | - |
RALYL | - | - | - | - | 3 | Gain | - |
RAPGEF1 | p.E994D | Missense | SNP | 0.505 | 2 | - | - |
RAPGEF6 | p.N832Ifs*17 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
RASAL2 | - | - | - | - | 3 | Gain | - |
RASGRF2 | p.A995V | Missense | SNP | 0.464 | 2 | - | - |
RASSF5 | - | - | - | - | 3 | Gain | - |
RB1CC1 | - | - | - | - | 3 | Gain | - |
RBBP5 | - | - | - | - | 3 | Gain | - |
RBBP8 | p.K357Nfs*3 | Frame_Shift_Del | DEL | 0.250 | 2 | - | - |
RBM12B | - | - | - | - | 3 | Gain | - |
RBM15 | p.R834H | Missense | SNP | 0.456 | 2 | - | - |
RBM18 | p.R177Gfs*21 | Frame_Shift_Del | DEL | 0.558 | 2 | - | - |
RBM20 | p.R392W | Missense | SNP | 0.460 | 2 | - | - |
RBM27 | p.K816Nfs*5 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
RBM34 | - | - | - | - | 3 | Gain | - |
RBM42 | p.P333Qfs*24 p.A255V | Frame_Shift_Del Missense | DEL SNP | 0.449 0.385 | 2 | - | - |
RBM7 | p.R191C | Missense | SNP | 0.463 | 2 | - | - |
RBM8A | - | - | - | - | 3 | Gain | - |
RC3H1 | - | - | - | - | 3 | Gain | - |
RCOR3 | - | - | - | - | 3 | Gain | - |
RCSD1 | - | - | - | - | 3 | Gain | - |
RD3 | - | - | - | - | 3 | Gain | - |
RD3L | p.F4Lfs*4 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
RDH10 | p.N145D | Missense | SNP | 0.358 | 3 | Gain | RDH10--RN7SL2 |
RECQL4 | - | - | - | - | 3 | Gain | - |
REN | - | - | - | - | 3 | Gain | - |
RENBP | p.D30G | Missense | SNP | 0.421 | ND | ND | - |
RERE | p.S1391I | Missense | SNP | 0.468 | 2 | - | - |
RFTN1 | p.T366A | Missense | SNP | 0.452 | 2 | - | - |
RFX5 | - | - | - | - | 3 | Gain | - |
RGAG1 | p.A1049T | Missense | SNP | 0.422 | ND | ND | - |
RGL1 | - | - | - | - | 3 | Gain | - |
RGS1 | - | - | - | - | 3 | Gain | - |
RGS13 | - | - | - | - | 3 | Gain | - |
RGS16 | - | - | - | - | 3 | Gain | - |
RGS18 | - | - | - | - | 3 | Gain | - |
RGS2 | - | - | - | - | 3 | Gain | - |
RGS20 | p.H151Ifs*3 | Frame_Shift_Del | DEL | 0.269 | 3 | Gain | - |
RGS21 | - | - | - | - | 3 | Gain | - |
RGS22 | - | - | - | - | 3 | Gain | - |
RGS4 | - | - | - | - | 3 | Gain | - |
RGS5 | - | - | - | - | 3 | Gain | - |
RGS7 | - | - | - | - | 3 | Gain | - |
RGS8 | - | - | - | - | 3 | Gain | - |
RGSL1 | - | - | - | - | 3 | Gain | - |
RHBG | - | - | - | - | 3 | Gain | - |
RHEX | - | - | - | - | 3 | Gain | - |
RHOQ | p.R193Efs*2 | Frame_Shift_Del | DEL | 0.273 | 2 | - | - |
RHOU | - | - | - | - | 3 | Gain | - |
RHPN1 | - | - | - | - | 3 | Gain | - |
RIC1 | p.D1216Y | Missense | SNP | 0.560 | 2 | - | - |
RICTOR | - | - | - | - | 1 | Loss | - |
RIDA | - | - | - | - | 3 | Gain | - |
RIIAD1 | - | - | - | - | 3 | Gain | - |
RIMBP2 | p.L79Wfs*15 p.T328M | Frame_Shift_Del Missense | DEL SNP | 0.500 0.475 | 2 | - | - |
RIMS2 | - | - | - | - | 3 | Gain | - |
RIPK2 | - | - | - | - | 3 | Gain | - |
RIT1 | - | - | - | - | 3 | Gain | - |
RMDN1 | - | - | - | - | 3 | Gain | - |
RMND5B | p.E10Afs*16 | Frame_Shift_Del | DEL | 0.058 | 2 | - | - |
RN7SKP48 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP71 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SL2 | - | - | - | - | ND | ND | RDH10--RN7SL2 |
RNASEL | - | - | - | - | 3 | Gain | - |
RNF111 | p.A564T | Missense | SNP | 0.446 | 2 | - | - |
RNF113A | p.D254N | Missense | SNP | 0.451 | ND | ND | - |
RNF115 | - | - | - | - | 3 | Gain | - |
RNF128 | p.V42L | Missense | SNP | 0.478 | ND | ND | - |
RNF139 | - | - | - | - | 3 | Gain | - |
RNF150 | p.A2V | Missense | SNP | 0.456 | 2 | - | - |
RNF17 | p.G1232Efs*6 | Frame_Shift_Del | DEL | 0.552 | 2 | - | - |
RNF187 | - | - | - | - | 3 | Gain | - |
RNF19A | - | - | - | - | 3 | Gain | - |
RNF2 | - | - | - | - | 3 | Gain | - |
RNF216 | p.W790Dfs*5 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
RNPEP | - | - | - | - | 3 | Gain | - |
ROBO2 | p.R399H | Missense | SNP | 0.525 | 2 | - | - |
RORC | - | - | - | - | 3 | Gain | - |
RP1 | - | - | - | - | 3 | Gain | - |
RP11-108O10.8 | p.G12V | Missense | SNP | 0.422 | ND | ND | - |
RP11-310K10.1 | p.V80Cfs*47 | Frame_Shift_Del | DEL | 0.076 | ND | ND | - |
RP11-407N17.3 | p.P1307Hfs*15 | Frame_Shift_Del | DEL | 0.594 | ND | ND | - |
RP11-407P15.2 | p.F163Lfs*9 | Frame_Shift_Del | DEL | 0.423 | ND | ND | - |
RPE65 | p.E456* | Nonsense | SNP | 0.606 | 2 | - | - |
RPGRIP1 | p.A288T | Missense | SNP | 0.486 | 2 | - | - |
RPL19 | p.R170H | Missense | SNP | 0.244 | 2 | - | - |
RPL22 | p.K89Nfs*3 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
RPL30 | - | - | - | - | 3 | Gain | - |
RPL5 | p.R209H | Missense | SNP | 0.494 | 2 | - | - |
RPL7 | - | - | - | - | 3 | Gain | - |
RPL8 | - | - | - | - | 3 | Gain | - |
RPRD2 | p.K755N | Missense | SNP | 0.307 | 3 | Gain | - |
RPS20 | - | - | - | - | 3 | Gain | - |
RPS27 | - | - | - | - | 3 | Gain | - |
RPS6KA4 | p.S772Pfs*12 | Frame_Shift_Del | DEL | 0.617 | 2 | - | - |
RPS6KC1 | - | - | - | - | 3 | Gain | - |
RPTN | - | - | - | - | 3 | Gain | - |
RRM2B | - | - | - | - | 3 | Gain | - |
RRNAD1 | - | - | - | - | 3 | Gain | - |
RRP15 | - | - | - | - | 3 | Gain | - |
RRS1 | - | - | - | - | 3 | Gain | - |
RSPO2 | - | - | - | - | 3 | Gain | - |
RSPO3 | - | - | - | - | 2 | - | PTPRK--RSPO3 |
RTEL1 | p.V515A | Missense | SNP | 0.455 | 2 | - | - |
RUBCN | p.A917V | Missense | SNP | 0.057 | 2 | - | - |
RUNX1T1 | - | - | - | - | 3 | Gain | - |
RUSC1 | - | - | - | - | 3 | Gain | - |
RXFP4 | - | - | - | - | 3 | Gain | - |
RXRG | - | - | - | - | 3 | Gain | - |
RYR2 | - | - | - | - | 3 | Gain | - |
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 | - |
S1PR5 | p.R241C p.A153V | Missense Missense | SNP SNP | 0.515 0.536 | 2 | - | - |
SACS | p.A1796V | Missense | SNP | 0.484 | 2 | - | - |
SAFB | p.Y801Lfs*4 | Frame_Shift_Ins | INS | 0.291 | 2 | - | - |
SAMD12 | - | - | - | - | 3 | Gain | - |
SAMD9 | p.F1217Lfs*32 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
SBF1 | p.E1569Tfs*54 p.Q43Rfs*41 p.G1315V | Frame_Shift_Del Frame_Shift_Del Missense | DEL DEL SNP | 0.445 0.390 0.507 | 2 | - | - |
SBSPON | - | - | - | - | 3 | Gain | - |
SCAF1 | p.R868S | Missense | SNP | 0.422 | 2 | - | - |
SCAF4 | p.P719Lfs*29 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
SCAMP3 | - | - | - | - | 3 | Gain | - |
SCCPDH | - | - | - | - | 3 | Gain | - |
SCHIP1 | p.A218V | Missense | SNP | 0.454 | 2 | - | - |
SCN1B | p.V22M | Missense | SNP | 0.484 | 2 | - | - |
SCNM1 | - | - | - | - | 3 | Gain | - |
SCRIB | - | - | - | - | 3 | Gain | - |
SCRT1 | - | - | - | - | 3 | Gain | - |
SCX | - | - | - | - | 3 | Gain | - |
SCYL3 | - | - | - | - | 3 | Gain | - |
SDC1 | p.G36D | Missense | SNP | 0.473 | 2 | - | - |
SDC2 | - | - | - | - | 3 | Gain | - |
SDCBP | - | - | - | - | 3 | Gain | - |
SDCCAG8 | - | - | - | - | 3 | Gain | - |
SDE2 | - | - | - | - | 3 | Gain | - |
SDHC | - | - | - | - | 3 | Gain | - |
SDK1 | p.A98T | Missense | SNP | 0.467 | 2 | - | - |
SDR16C5 | - | - | - | - | 3 | Gain | - |
SEC16B | - | - | - | - | 3 | Gain | - |
SEL1L2 | p.V264* | Frame_Shift_Del | DEL | 0.095 | 2 | - | - |
SELE | - | - | - | - | 3 | Gain | - |
SELENBP1 | - | - | - | - | 3 | Gain | - |
SELL | - | - | - | - | 3 | Gain | - |
SELP | - | - | - | - | 3 | Gain | - |
SEMA3F | p.A294V | Missense | SNP | 0.100 | 2 | - | - |
SEMA4A | - | - | - | - | 3 | Gain | - |
SEMA5A | p.R774H | Missense | SNP | 0.419 | 2 | - | - |
SEMA6C | - | - | - | - | 3 | Gain | - |
SENP2 | p.E257Kfs*29 | Frame_Shift_Del | DEL | 0.379 | 2 | - | - |
SERPINB8 | p.P155L | Missense | SNP | 0.390 | 2 | - | - |
SERPINC1 | p.R56H | Missense | SNP | 0.358 | 3 | Gain | - |
SERPIND1 | p.W381L | Missense | SNP | 0.449 | 2 | - | - |
SERTAD4 | - | - | - | - | 3 | Gain | - |
SETBP1 | p.R421Dfs*23 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
SETD1B | p.H8Tfs*27 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
SETDB1 | p.T397Nfs*15 | Frame_Shift_Ins | INS | 0.336 | 3 | Gain | - |
SF3B4 | - | - | - | - | 3 | Gain | - |
SFT2D2 | - | - | - | - | 3 | Gain | - |
SFXN3 | p.A74V | Missense | SNP | 0.460 | 2 | - | - |
SGK1 | p.P466Lfs*6 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
SGK3 | - | - | - | - | 3 | Gain | - |
SGTA | p.K103T | Missense | SNP | 0.492 | 2 | - | - |
SH2D1B | - | - | - | - | 3 | Gain | - |
SH2D2A | - | - | - | - | 3 | Gain | - |
SH3BGRL3 | p.R32C | Missense | SNP | 0.456 | 2 | - | - |
SH3BP5L | - | - | - | - | 3 | Gain | - |
SH3D21 | p.T570Rfs*10 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
SHANK1 | p.H35Ifs*78 p.T40Pfs*33 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.278 0.397 | 2 | - | - |
SHARPIN | - | - | - | - | 3 | Gain | - |
SHC1 | p.V431I | Missense | SNP | 0.305 | 3 | Gain | - |
SHC2 | p.D432Gfs*4 p.T258M | Frame_Shift_Ins Missense | INS SNP | 0.348 0.355 | 2 | - | - |
SHCBP1L | p.Y260Mfs*84 | Frame_Shift_Del | DEL | 0.646 | 3 | Gain | - |
SHE | - | - | - | - | 3 | Gain | - |
SHISA4 | - | - | - | - | 3 | Gain | - |
SHISA7 | p.P461Afs*140 | Frame_Shift_Ins | INS | 0.121 | 2 | - | - |
SHPRH | p.E166Nfs*3 | Frame_Shift_Del | DEL | 0.552 | 2 | - | - |
SHROOM2 | p.N1204T | Missense | SNP | 0.504 | ND | ND | - |
SIDT2 | p.A762V | Missense | SNP | 0.408 | 2 | - | - |
SIM2 | p.R318H | Missense | SNP | 0.488 | 2 | - | - |
SIPA1L1 | p.R164Efs*17 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
SIPA1L2 | - | - | - | - | 3 | Gain | - |
SIPA1L3 | p.A817T | Missense | SNP | 0.469 | 2 | - | - |
SKA1 | p.L249I | Missense | SNP | 0.462 | 2 | - | - |
SLA | - | - | - | - | 3 | Gain | - |
SLAIN1 | p.G124D | Missense | SNP | 0.479 | 2 | - | - |
SLAMF1 | - | - | - | - | 3 | Gain | - |
SLAMF6 | - | - | - | - | 3 | Gain | - |
SLAMF7 | - | - | - | - | 3 | Gain | - |
SLAMF8 | - | - | - | - | 3 | Gain | - |
SLAMF9 | p.S175N | Missense | SNP | 0.688 | 3 | Gain | - |
SLC10A5 | - | - | - | - | 3 | Gain | - |
SLC12A4 | p.C35Y | Missense | SNP | 0.494 | 2 | - | - |
SLC12A7 | p.H686Tfs*11 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
SLC18B1 | p.A415T | Missense | SNP | 0.565 | 2 | - | - |
SLC19A2 | - | - | - | - | 3 | Gain | - |
SLC22A11 | p.V194I | Missense | SNP | 0.431 | 2 | - | - |
SLC22A16 | p.S169L | Missense | SNP | 0.527 | 2 | - | - |
SLC25A18 | p.T247A | Missense | SNP | 0.631 | 2 | - | - |
SLC25A21 | p.T175P | Missense | SNP | 0.537 | 2 | - | - |
SLC25A27 | p.V100L | Missense | SNP | 0.476 | 2 | - | - |
SLC25A32 | - | - | - | - | 3 | Gain | - |
SLC25A33 | p.F234Lfs*24 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
SLC25A39 | p.P135Hfs*13 p.K329R | Frame_Shift_Del Missense | DEL SNP | 0.463 0.488 | 2 | - | - |
SLC25A44 | - | - | - | - | 3 | Gain | - |
SLC26A7 | - | - | - | - | 3 | Gain | - |
SLC26A9 | - | - | - | - | 3 | Gain | - |
SLC27A3 | - | - | - | - | 3 | Gain | - |
SLC2A4 | p.V32L | Missense | SNP | 0.526 | 2 | - | - |
SLC30A1 | - | - | - | - | 3 | Gain | - |
SLC30A10 | - | - | - | - | 3 | Gain | - |
SLC30A8 | - | - | - | - | 3 | Gain | - |
SLC34A1 | p.L101V | Missense | SNP | 0.418 | 2 | - | - |
SLC35A5 | p.Y300Mfs*8 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
SLC35F1 | p.P7S | Missense | SNP | 0.516 | 2 | - | - |
SLC35F3 | - | - | - | - | 3 | Gain | - |
SLC36A1 | p.S2F | Missense | SNP | 0.421 | 2 | - | - |
SLC39A1 | - | - | - | - | 3 | Gain | - |
SLC39A3 | p.G140Afs*18 | Frame_Shift_Del | DEL | 0.483 | 2 | - | - |
SLC39A4 | - | - | - | - | 3 | Gain | - |
SLC41A1 | - | - | - | - | 3 | Gain | - |
SLC44A3 | p.F574Lfs*4 | Frame_Shift_Del | DEL | 0.420 | 2 | - | - |
SLC45A1 | p.A537T | Missense | SNP | 0.512 | 2 | - | - |
SLC45A3 | - | - | - | - | 3 | Gain | - |
SLC45A4 | - | - | - | - | 3 | Gain | - |
SLC4A1 | p.E125D | Missense | SNP | 0.489 | 2 | - | - |
SLC4A2 | p.A915T | Missense | SNP | 0.444 | 2 | - | - |
SLC4A5 | p.I1069F | Missense | SNP | 0.468 | 2 | - | - |
SLC4A8 | p.T896M | Missense | SNP | 0.362 | 2 | - | - |
SLC50A1 | - | - | - | - | 3 | Gain | - |
SLC52A2 | p.P426Rfs*63 | Frame_Shift_Del | DEL | 0.247 | 3 | Gain | - |
SLC5A11 | p.M386V p.S591N | Missense Missense | SNP SNP | 0.439 0.353 | 2 | - | - |
SLC5A12 | p.V243M | Missense | SNP | 0.375 | 2 | - | - |
SLC6A15 | p.N4Ifs*5 p.V620A | Frame_Shift_Del Missense | DEL SNP | 0.438 0.536 | 2 | - | - |
SLC6A3 | p.V221M | Missense | SNP | 0.468 | 2 | - | - |
SLC6A5 | p.A42T p.A67V | Missense Missense | SNP SNP | 0.496 0.550 | 2 | - | - |
SLC7A13 | - | - | - | - | 3 | Gain | - |
SLC7A8 | p.R418Afs*40 | Frame_Shift_Del | DEL | 0.104 | 2 | - | - |
SLC9A4 | p.R219C | Missense | SNP | 0.452 | 2 | - | - |
SLC9A7 | p.M106V | Missense | SNP | 0.474 | ND | ND | - |
SLC9C1 | p.A1146T | Missense | SNP | 0.555 | 2 | - | - |
SLC9C2 | - | - | - | - | 3 | Gain | - |
SLCO2A1 | p.F277Sfs*8 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
SLCO2B1 | p.G343V | Missense | SNP | 0.500 | 2 | - | - |
SLCO5A1 | - | - | - | - | 3 | Gain | - |
SLFN14 | p.K192* | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
SLURP1 | - | - | - | - | 3 | Gain | - |
SLURP2 | - | - | - | - | 3 | Gain | - |
SLX4 | p.P151H | Missense | SNP | 0.427 | 2 | - | - |
SMAD1 | p.T292A | Missense | SNP | 0.442 | 2 | - | - |
SMARCA2 | p.E1330K | Missense | SNP | 0.412 | 2 | - | - |
SMC4 | p.T48I | Missense | SNP | 0.444 | 2 | - | - |
SMCP | - | - | - | - | 3 | Gain | - |
SMG1 | p.E1667V | Missense | SNP | 0.536 | 2 | - | - |
SMG5 | - | - | - | - | 3 | Gain | - |
SMG7 | p.M803* | Frame_Shift_Del | DEL | 0.310 | 3 | Gain | - |
SMG8 | p.Q786R | Missense | SNP | 0.652 | 2 | - | - |
SMTN | p.S590Vfs*64 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
SMYD2 | - | - | - | - | 3 | Gain | - |
SMYD3 | - | - | - | - | 3 | Gain | - |
SNAI2 | p.Q148* | Nonsense | SNP | 0.299 | 3 | Gain | - |
SNAP47 | - | - | - | - | 3 | Gain | - |
SNAPC2 | p.P294Qfs*11 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
SNAPIN | - | - | - | - | 3 | Gain | - |
SNHG28 | - | - | - | - | 3 | Gain | - |
SNRPE | - | - | - | - | 3 | Gain | - |
SNTB1 | - | - | - | - | 3 | Gain | - |
SNTG1 | p.Y52C | Missense | SNP | 0.293 | 3 | Gain | - |
SNX15 | p.H109Y | Missense | SNP | 0.483 | 2 | - | - |
SNX16 | - | - | - | - | 3 | Gain | - |
SNX27 | - | - | - | - | 3 | Gain | - |
SNX31 | - | - | - | - | 3 | Gain | - |
SOAT1 | - | - | - | - | 3 | Gain | - |
SOAT2 | p.R417W | Missense | SNP | 0.216 | 2 | - | - |
SOBP | p.Y527C | Missense | SNP | 0.561 | 2 | - | - |
SOCS3 | p.R94L | Missense | SNP | 0.413 | 2 | - | - |
SORL1 | p.D1006G p.D1570N | Missense Missense | SNP SNP | 0.512 0.435 | 2 | - | - |
SOWAHA | p.P155S | Missense | SNP | 0.458 | 2 | - | - |
SOWAHB | p.A183S | Missense | SNP | 0.510 | 2 | - | - |
SOX1 | p.Q71* p.R108C | Nonsense Missense | SNP SNP | 0.482 0.507 | 2 | - | - |
SOX13 | - | - | - | - | 3 | Gain | - |
SOX15 | - | - | - | - | 1 | Loss | - |
SOX17 | - | - | - | - | 3 | Gain | - |
SOX8 | p.D27G | Missense | SNP | 0.499 | 2 | - | - |
SOX9 | p.P374Rfs*9 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
SP9 | p.G121R | Missense | SNP | 0.451 | 2 | - | - |
SPAG1 | - | - | - | - | 3 | Gain | - |
SPAG11B | p.F94Sfs*43 | Frame_Shift_Del | DEL | 0.213 | 2 | - | - |
SPAG17 | p.I1502N p.D770N | Missense Missense | SNP SNP | 0.579 0.558 | 2 | - | - |
SPAG6 | p.H442Y | Missense | SNP | 0.577 | 2 | - | - |
SPAG9 | p.R549Gfs*28 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
SPAM1 | p.P271T | Missense | SNP | 0.553 | 2 | - | - |
SPATA17 | - | - | - | - | 3 | Gain | - |
SPATA21 | p.A263T | Missense | SNP | 0.452 | 2 | - | - |
SPATA45 | - | - | - | - | 3 | Gain | - |
SPATA46 | - | - | - | - | 3 | Gain | - |
SPATA5L1 | p.K247N | Missense | SNP | 0.507 | 2 | - | - |
SPATC1 | - | - | - | - | 3 | Gain | - |
SPEF2 | p.P1181T | Missense | SNP | 0.692 | 2 | - | - |
SPEG | p.Q2233Rfs*6 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
SPHAR | - | - | - | - | 3 | Gain | - |
SPIRE1 | p.R627W | Missense | SNP | 0.517 | 2 | - | - |
SPPL2C | p.P619Lfs*7 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
SPRED1 | p.I60Yfs*18 | Frame_Shift_Ins | INS | 0.296 | 2 | - | - |
SPRR1A | - | - | - | - | 3 | Gain | - |
SPRR1B | - | - | - | - | 3 | Gain | - |
SPRR2G | - | - | - | - | 3 | Gain | - |
SPRR3 | - | - | - | - | 3 | Gain | - |
SPRR4 | - | - | - | - | 3 | Gain | - |
SPRTN | - | - | - | - | 3 | Gain | - |
SPTA1 | p.T114Nfs*39 | Frame_Shift_Ins | INS | 0.215 | 3 | Gain | - |
SPTB | p.R1570L | Missense | SNP | 0.458 | 2 | - | - |
SPTY2D1 | p.S139L | Missense | SNP | 0.407 | 2 | - | - |
SQLE | - | - | - | - | 3 | Gain | - |
SRBD1 | p.A578V | Missense | SNP | 0.393 | 2 | - | - |
SRGAP1 | p.N105S p.A613V | Missense Missense | SNP SNP | 0.512 0.450 | 2 | - | - |
SRGAP2 | - | - | - | - | 3 | Gain | - |
SRGAP2B | - | - | - | - | 3 | Gain | - |
SRP9 | - | - | - | - | 3 | Gain | - |
SSR2 | - | - | - | - | 3 | Gain | - |
ST18 | - | - | - | - | 3 | Gain | - |
ST3GAL1 | - | - | - | - | 3 | Gain | - |
ST3GAL4 | p.R211* | Nonsense | SNP | 0.072 | 2 | - | - |
ST8SIA2 | p.R145Qfs*8 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
STAG2 | p.G49C | Missense | SNP | 0.474 | ND | ND | - |
STAR | p.G42Afs*67 | Frame_Shift_Del | DEL | 0.572 | 2 | - | - |
STARD10 | p.S204P | Missense | SNP | 0.389 | 2 | - | - |
STAU2 | p.A167V | Missense | SNP | 0.291 | 3 | Gain | - |
STIM1 | p.A225V | Missense | SNP | 0.429 | 2 | - | - |
STK11IP | p.C757Y | Missense | SNP | 0.456 | 2 | - | - |
STK3 | - | - | - | - | 3 | Gain | - |
STMN2 | - | - | - | - | 3 | Gain | - |
STRC | p.R1521Gfs*15 | Frame_Shift_Del | DEL | 0.560 | 2 | - | - |
STUM | - | - | - | - | 3 | Gain | - |
STX6 | - | - | - | - | 3 | Gain | - |
SUCLG2 | p.F189Lfs*11 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
SUCO | - | - | - | - | 3 | Gain | - |
SULF1 | p.A75Gfs*48 p.F343Lfs*7 p.G743D | Frame_Shift_Ins Frame_Shift_Del Missense | INS DEL SNP | 0.241 0.203 0.350 | 3 | Gain | - |
SUSD4 | p.P412Qfs*51 | Frame_Shift_Del | DEL | 0.288 | 3 | Gain | - |
SV2A | p.R112Q p.R48H | Missense Missense | SNP SNP | 0.245 0.336 | 3 | Gain | - |
SWT1 | p.R180I | Missense | SNP | 0.556 | 3 | Gain | - |
SYBU | - | - | - | - | 3 | Gain | - |
SYDE1 | p.D704N | Missense | SNP | 0.494 | 2 | - | - |
SYNE1 | p.I6377M | Missense | SNP | 0.525 | 2 | - | - |
SYNJ1 | p.G1314D | Missense | SNP | 0.512 | 2 | - | - |
SYT11 | p.D120Y | Missense | SNP | 0.259 | 3 | Gain | - |
SYT14 | - | - | - | - | 3 | Gain | - |
SYT2 | - | - | - | - | 3 | Gain | - |
SYTL2 | p.L19Ffs*20 | Frame_Shift_Ins | INS | 0.331 | 2 | - | - |
SYVN1 | p.R535Gfs*96 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
TACR2 | p.T392Pfs*19 | Frame_Shift_Del | DEL | 0.407 | 2 | - | - |
TADA1 | - | - | - | - | 3 | Gain | - |
TAF10 | p.X151_splice | Splice_Site | DEL | 0.235 | 2 | - | - |
TAF12 | p.T35I | Missense | SNP | 0.477 | 2 | - | - |
TAF15 | p.G530Afs*116 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
TAF1A | - | - | - | - | 3 | Gain | - |
TAF1D | p.K94Rfs*26 | Frame_Shift_Del | DEL | 0.379 | 2 | - | - |
TAF2 | - | - | - | - | 3 | Gain | - |
TAF5L | - | - | - | - | 3 | Gain | - |
TAF9 | p.P167Hfs*10 | Frame_Shift_Del | DEL | 0.394 | 2 | - | - |
TAGLN2 | - | - | - | - | 3 | Gain | - |
TAMM41 | p.K206N p.E196Q | Missense Missense | SNP SNP | 0.433 0.471 | 2 | - | - |
TARBP1 | - | - | - | - | 3 | Gain | - |
TARS2 | - | - | - | - | 3 | Gain | - |
TATDN1 | - | - | - | - | 3 | Gain | - |
TATDN3 | - | - | - | - | 3 | Gain | - |
TBC1D1 | p.A427V | Missense | SNP | 0.456 | 2 | - | - |
TBC1D10C | p.A321Rfs*100 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
TBC1D13 | p.A206V | Missense | SNP | 0.510 | 2 | - | - |
TBC1D15 | p.T380Lfs*7 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
TBC1D16 | p.R378H | Missense | SNP | 0.150 | 2 | - | - |
TBC1D23 | p.K649Nfs*18 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
TBC1D31 | - | - | - | - | 3 | Gain | - |
TBC1D9B | p.K1007N | Missense | SNP | 0.387 | 2 | - | - |
TBCE | - | - | - | - | 3 | Gain | - |
TBX10 | p.F98Sfs*3 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
TBX19 | - | - | - | - | 3 | Gain | - |
TBX2 | p.A330Rfs*38 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
TBX22 | p.V12M | Missense | SNP | 0.459 | ND | ND | - |
TCAP | p.L156M | Missense | SNP | 0.510 | 2 | - | - |
TCEA1 | - | - | - | - | 3 | Gain | - |
TCEAL4 | p.R77W | Missense | SNP | 0.504 | ND | ND | - |
TCF24 | p.P50A | Missense | SNP | 0.332 | 3 | Gain | - |
TCF3 | p.T533I | Missense | SNP | 0.527 | 2 | - | - |
TCHH | - | - | - | - | 3 | Gain | - |
TCHHL1 | - | - | - | - | 3 | Gain | - |
TCHP | p.K174Nfs*26 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
TCOF1 | p.A795V p.K1394N | Missense Missense | SNP SNP | 0.453 0.429 | 2 | - | - |
TCP11X2 | p.L338Sfs*37 | Frame_Shift_Del | DEL | 0.250 | ND | ND | - |
TDRD10 | - | - | - | - | 3 | Gain | - |
TDRD5 | - | - | - | - | 3 | Gain | - |
TDRKH | - | - | - | - | 3 | Gain | - |
TECPR1 | p.A669T | Missense | SNP | 0.540 | 2 | - | - |
TECRL | p.K98Q | Missense | SNP | 0.333 | 2 | - | - |
TEDDM1 | - | - | - | - | 3 | Gain | - |
TENM1 | p.N1849D p.R1065* | Missense Nonsense | SNP SNP | 0.528 0.471 | ND | ND | - |
TERF1 | - | - | - | - | 3 | Gain | - |
TET3 | p.S1618Afs*5 | Frame_Shift_Del | DEL | 0.093 | 2 | - | - |
TEX15 | p.A1007Lfs*12 | Frame_Shift_Del | DEL | 0.592 | 2 | - | - |
TEX2 | p.E375D | Missense | SNP | 0.471 | 2 | - | - |
TEX35 | - | - | - | - | 3 | Gain | - |
TEX43 | p.L83* | Frame_Shift_Del | DEL | 0.620 | 2 | - | - |
TEX50 | - | - | - | - | 3 | Gain | - |
TFB2M | - | - | - | - | 3 | Gain | - |
TG | - | - | - | - | 3 | Gain | - |
TGFB2 | - | - | - | - | 3 | Gain | - |
TGFBR2 | p.L5Afs*37 p.K153Sfs*35 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.311 0.450 | 2 | - | - |
TGM2 | p.E70D | Missense | SNP | 0.415 | 2 | - | - |
TGS1 | - | - | - | - | 3 | Gain | - |
THBS1 | p.A39V | Missense | SNP | 0.530 | 2 | - | - |
THBS3 | - | - | - | - | 3 | Gain | - |
THEM4 | - | - | - | - | 3 | Gain | - |
THEM5 | - | - | - | - | 3 | Gain | - |
THEM6 | - | - | - | - | 3 | Gain | - |
THTPA | p.G27Afs*19 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
THUMPD3 | p.F240S | Missense | SNP | 0.460 | 2 | - | - |
TIGD5 | - | - | - | - | 3 | Gain | - |
TIMM17A | - | - | - | - | 3 | Gain | - |
TIPRL | - | - | - | - | 3 | Gain | - |
TLDC2 | p.E60D | Missense | SNP | 0.435 | 2 | - | - |
TLR10 | p.A753Hfs*28 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
TLR5 | - | - | - | - | 3 | Gain | - |
TLR8 | p.D644N | Missense | SNP | 0.370 | ND | ND | - |
TLX2 | p.A199T | Missense | SNP | 0.525 | 2 | - | - |
TMCC2 | - | - | - | - | 3 | Gain | - |
TMCO1 | - | - | - | - | 3 | Gain | - |
TMEM132A | p.P516H | Missense | SNP | 0.401 | 2 | - | - |
TMEM132C | p.A416T p.A897T | Missense Missense | SNP SNP | 0.448 0.485 | 2 | - | - |
TMEM132D | p.T207Rfs*75 p.V448A | Frame_Shift_Del Missense | DEL SNP | 0.435 0.404 | 2 | - | - |
TMEM143 | p.R42Gfs*45 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
TMEM151B | p.A533T | Missense | SNP | 0.481 | 2 | - | - |
TMEM171 | p.F258S | Missense | SNP | 0.488 | 2 | - | - |
TMEM183A | - | - | - | - | 3 | Gain | - |
TMEM206 | - | - | - | - | 3 | Gain | - |
TMEM249 | - | - | - | - | 3 | Gain | - |
TMEM256-PLSCR3 | p.G242Afs*23 | Frame_Shift_Del | DEL | 0.564 | 2 | - | - |
TMEM37 | p.H62Y | Missense | SNP | 0.478 | 2 | - | - |
TMEM55A | p.I180Nfs*6 | Frame_Shift_Ins | INS | 0.293 | ND | ND | - |
TMEM63A | - | - | - | - | 3 | Gain | - |
TMEM64 | - | - | - | - | 3 | Gain | - |
TMEM65 | - | - | - | - | 3 | Gain | - |
TMEM67 | - | - | - | - | 3 | Gain | - |
TMEM68 | - | - | - | - | 3 | Gain | - |
TMEM70 | - | - | - | - | 3 | Gain | - |
TMEM71 | - | - | - | - | 3 | Gain | - |
TMEM74 | - | - | - | - | 3 | Gain | - |
TMEM79 | p.R163Gfs*17 | Frame_Shift_Del | DEL | 0.640 | 3 | Gain | - |
TMEM81 | - | - | - | - | 3 | Gain | - |
TMEM9 | - | - | - | - | 3 | Gain | - |
TMEM92 | p.L98Wfs*26 | Frame_Shift_Del | DEL | 0.960 | 2 | - | - |
TMEM94 | p.S895Pfs*13 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
TMIE | p.G15A | Missense | SNP | 0.494 | 2 | - | - |
TMOD4 | - | - | - | - | 3 | Gain | - |
TMPRSS2 | p.V86Cfs*9 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
TMTC2 | p.A798V | Missense | SNP | 0.589 | 2 | - | - |
TNFAIP8L2 | - | - | - | - | 3 | Gain | - |
TNFRSF11B | - | - | - | - | 3 | Gain | - |
TNFSF18 | - | - | - | - | 3 | Gain | - |
TNFSF4 | - | - | - | - | 3 | Gain | - |
TNIP1 | p.A287T | Missense | SNP | 0.440 | 2 | - | - |
TNKS | p.S4* | Nonsense | SNP | 0.470 | 2 | - | - |
TNN | - | - | - | - | 3 | Gain | - |
TNNI1 | - | - | - | - | 3 | Gain | - |
TNNT2 | - | - | - | - | 3 | Gain | - |
TNPO1 | p.R463C | Missense | SNP | 0.497 | 2 | - | - |
TNR | - | - | - | - | 3 | Gain | - |
TNRC18 | p.R1543Afs*13 | Frame_Shift_Del | DEL | 0.401 | 2 | - | - |
TNRC6C | p.G1456C | Missense | SNP | 0.502 | 2 | - | - |
TNS1 | p.G532Afs*9 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
TOMM20 | - | - | - | - | 3 | Gain | - |
TOMM40L | - | - | - | - | 3 | Gain | - |
TONSL | - | - | - | - | 3 | Gain | - |
TOP1MT | - | - | - | - | 3 | Gain | - |
TOR1AIP1 | - | - | - | - | 3 | Gain | - |
TOR1AIP2 | - | - | - | - | 3 | Gain | - |
TOR3A | - | - | - | - | 3 | Gain | - |
TOX | - | - | - | - | 3 | Gain | - |
TP53BP1 | p.N1022Kfs*8 | Frame_Shift_Ins | INS | 0.298 | 2 | - | - |
TP53BP2 | - | - | - | - | 3 | Gain | - |
TP53INP1 | - | - | - | - | 3 | Gain | - |
TPBGL | p.R193H | Missense | SNP | 0.479 | 2 | - | - |
TPD52 | - | - | - | - | 3 | Gain | - |
TPM1 | p.V235G | Missense | SNP | 0.462 | 2 | - | - |
TPM3 | - | - | - | - | 3 | Gain | - |
TPR | - | - | - | - | 3 | Gain | - |
TRAF3IP1 | p.D577N | Missense | SNP | 0.461 | 2 | - | - |
TRAF3IP2 | p.I5T | Missense | SNP | 0.589 | 2 | - | - |
TRAF3IP3 | - | - | - | - | 3 | Gain | - |
TRAF5 | - | - | - | - | 3 | Gain | - |
TRAM1 | - | - | - | - | 3 | Gain | - |
TRAPPC9 | - | - | - | - | 3 | Gain | - |
TRHR | - | - | - | - | 3 | Gain | - |
TRIB1 | p.G64Afs*36 | Frame_Shift_Del | DEL | 0.351 | 3 | Gain | - |
TRIM11 | - | - | - | - | 3 | Gain | - |
TRIM17 | - | - | - | - | 3 | Gain | - |
TRIM37 | p.G122Rfs*9 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
TRIM46 | - | - | - | - | 3 | Gain | - |
TRIM51 | p.M144Cfs*15 p.D24Y | Frame_Shift_Del Missense | DEL SNP | 0.508 0.455 | 2 | - | - |
TRIM55 | - | - | - | - | 3 | Gain | - |
TRIM58 | - | - | - | - | 3 | Gain | - |
TRIM65 | p.Q374R | Missense | SNP | 0.486 | 2 | - | - |
TRIM67 | - | - | - | - | 3 | Gain | - |
TRIM68 | p.R457H | Missense | SNP | 0.451 | 2 | - | - |
TRIO | p.R1926L | Missense | SNP | 0.444 | 2 | - | - |
TRIP11 | p.Q1315P | Missense | SNP | 0.518 | 2 | - | - |
TRIQK | - | - | - | - | 3 | Gain | - |
TRMT12 | - | - | - | - | 3 | Gain | - |
TRMT1L | p.T248I | Missense | SNP | 0.648 | 3 | Gain | - |
TROVE2 | - | - | - | - | 3 | Gain | - |
TRPA1 | - | - | - | - | 3 | Gain | - |
TRPM6 | p.H364Afs*20 p.R1761C | Frame_Shift_Ins Missense | INS SNP | 0.364 0.462 | 2 | - | - |
TRPM7 | p.W1111* | Nonsense | SNP | 0.244 | 2 | - | - |
TRPS1 | - | - | - | - | 3 | Gain | - |
TRPV2 | p.A419V | Missense | SNP | 0.437 | 2 | - | - |
TRPV4 | p.X779_splice | Splice_Site | SNP | 0.429 | 2 | - | - |
TSACC | - | - | - | - | 3 | Gain | - |
TSEN15 | - | - | - | - | 3 | Gain | - |
TSHZ1 | p.S564I | Missense | SNP | 0.502 | 2 | - | - |
TSNARE1 | - | - | - | - | 3 | Gain | - |
TSNAX | - | - | - | - | 3 | Gain | - |
TSNAX-DISC1 | - | - | - | - | 3 | Gain | - |
TSPAN10 | p.Q50R | Missense | SNP | 0.477 | 2 | - | - |
TSPAN11 | p.A36V | Missense | SNP | 0.103 | 2 | - | - |
TSPYL5 | - | - | - | - | 3 | Gain | - |
TSSK6 | p.R159S | Missense | SNP | 0.475 | 2 | - | - |
TSTA3 | - | - | - | - | 3 | Gain | - |
TSTD1 | - | - | - | - | 3 | Gain | - |
TTC13 | - | - | - | - | 3 | Gain | - |
TTC14 | p.K301Nfs*8 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
TTC17 | p.A1081T | Missense | SNP | 0.517 | 2 | - | - |
TTC22 | p.A510T | Missense | SNP | 0.536 | 2 | - | - |
TTC24 | - | - | - | - | 3 | Gain | - |
TTC7B | p.A104V | Missense | SNP | 0.435 | 2 | - | - |
TTK | p.K192Sfs*18 | Frame_Shift_Del | DEL | 0.533 | 2 | - | - |
TTN | p.P17893H p.E17069V p.A14508G | Missense Missense Missense | SNP SNP SNP | 0.448 0.521 0.470 | 2 | - | - |
TTPA | - | - | - | - | 3 | Gain | - |
TUBGCP2 | p.N452del | In_Frame_Del | DEL | 0.446 | 2 | - | - |
TUBGCP6 | p.V235Cfs*32 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
TUFT1 | - | - | - | - | 3 | Gain | - |
TULP4 | p.R369C | Missense | SNP | 0.542 | 2 | - | - |
TXNIP | - | - | - | - | 3 | Gain | - |
TYK2 | p.A35V | Missense | SNP | 0.453 | 2 | - | - |
UAP1 | - | - | - | - | 3 | Gain | - |
UBAP2L | - | - | - | - | 3 | Gain | - |
UBASH3B | p.R25Gfs*76 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
UBE2Q1 | - | - | - | - | 3 | Gain | - |
UBE2T | - | - | - | - | 3 | Gain | - |
UBE2W | - | - | - | - | 3 | Gain | - |
UBN1 | p.R716Gfs*129 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
UBN2 | p.G426Vfs*40 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
UBQLN4 | - | - | - | - | 3 | Gain | - |
UBR2 | p.T871A | Missense | SNP | 0.326 | 2 | - | - |
UBR5 | p.E2121Kfs*28 p.R1854C | Frame_Shift_Del Missense | DEL SNP | 0.402 0.357 | 3 | Gain | - |
UBXN2B | - | - | - | - | 3 | Gain | - |
UCHL5 | - | - | - | - | 3 | Gain | - |
UCK2 | - | - | - | - | 3 | Gain | - |
UFC1 | - | - | - | - | 3 | Gain | - |
UFL1 | p.R660Gfs*17 | Frame_Shift_Del | DEL | 0.250 | 2 | - | - |
UGT1A4 | p.W173Gfs*8 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
UHMK1 | - | - | - | - | 3 | Gain | - |
ULK2 | p.G101W | Missense | SNP | 0.515 | 2 | - | - |
UMODL1 | p.R69W | Missense | SNP | 0.494 | 2 | - | - |
UNC80 | p.A2355V | Missense | SNP | 0.473 | 2 | - | - |
UQCRB | - | - | - | - | 3 | Gain | - |
UQCRHL | p.L10R | Missense | SNP | 0.497 | 2 | - | - |
URB2 | - | - | - | - | 3 | Gain | - |
URI1 | p.R460L | Missense | SNP | 0.548 | 2 | - | - |
UROC1 | p.K367Rfs*77 | Frame_Shift_Del | DEL | 0.343 | 2 | - | - |
USF1 | - | - | - | - | 3 | Gain | - |
USH2A | p.F1581L | Missense | SNP | 0.660 | 3 | Gain | - |
USP19 | p.A1085V | Missense | SNP | 0.493 | 2 | - | - |
USP21 | - | - | - | - | 3 | Gain | - |
USP26 | p.G488Wfs*6 p.F348Lfs*7 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.312 0.519 | ND | ND | - |
USP28 | p.I750N | Missense | SNP | 0.459 | 2 | - | - |
UTP23 | - | - | - | - | 3 | Gain | - |
UTP25 | - | - | - | - | 3 | Gain | - |
VAMP4 | - | - | - | - | 3 | Gain | - |
VANGL2 | - | - | - | - | 3 | Gain | - |
VASH2 | - | - | - | - | 3 | Gain | - |
VAV1 | p.A34T | Missense | SNP | 0.462 | 2 | - | - |
VCP | p.N616Mfs*63 | Frame_Shift_Del | DEL | 0.512 | 2 | - | - |
VCPIP1 | - | - | - | - | 3 | Gain | - |
VCX | p.D102N | Missense | SNP | 0.207 | ND | ND | - |
VEPH1 | p.N554Tfs*5 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
VHLL | - | - | - | - | 3 | Gain | - |
VIRMA | - | - | - | - | 3 | Gain | - |
VPS13B | - | - | - | - | 3 | Gain | - |
VPS13C | p.I1477Lfs*24 p.P2544H | Frame_Shift_Del Missense | DEL SNP | 0.429 0.565 | 2 | - | - |
VPS28 | - | - | - | - | 3 | Gain | - |
VPS39 | p.L356P | Missense | SNP | 0.493 | 2 | - | - |
VPS45 | - | - | - | - | 3 | Gain | - |
VPS72 | - | - | - | - | 3 | Gain | - |
VSIG10 | p.P339Lfs*7 | Frame_Shift_Del | DEL | 0.376 | 2 | - | - |
VSIG8 | - | - | - | - | 3 | Gain | - |
VXN | - | - | - | - | 3 | Gain | - |
WASF3 | p.R200I | Missense | SNP | 0.503 | 2 | - | - |
WASHC5 | - | - | - | - | 3 | Gain | - |
WBSCR17 | p.P420L | Missense | SNP | 0.547 | ND | ND | - |
WDR11 | p.N309Mfs*4 | Frame_Shift_Del | DEL | 0.738 | 2 | - | - |
WDR12 | p.W394R | Missense | SNP | 0.520 | 2 | - | - |
WDR26 | - | - | - | - | 3 | Gain | - |
WDR64 | - | - | - | - | 3 | Gain | - |
WDR87 | p.K2759Rfs*57 | Frame_Shift_Del | DEL | 0.556 | 2 | - | - |
WDTC1 | p.E290Nfs*8 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
WDYHV1 | - | - | - | - | 3 | Gain | - |
WISP1 | - | - | - | - | 3 | Gain | - |
WNK4 | p.D85Rfs*17 | Frame_Shift_Ins | INS | 0.321 | 2 | - | - |
WNT3A | - | - | - | - | 3 | Gain | - |
WNT9A | - | - | - | - | 3 | Gain | - |
WWP1 | - | - | - | - | 3 | Gain | - |
XIRP1 | p.P28Qfs*141 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
XIRP2 | p.E2755Q | Missense | SNP | 0.506 | 2 | - | - |
XKR4 | - | - | - | - | 3 | Gain | - |
XKR7 | p.A79T | Missense | SNP | 0.515 | 2 | - | - |
XKR9 | - | - | - | - | 3 | Gain | - |
XPNPEP1 | p.M60T | Missense | SNP | 0.505 | 2 | - | - |
XPO6 | p.I661T | Missense | SNP | 0.453 | 2 | - | - |
XPOT | p.F126Lfs*6 | Frame_Shift_Del | DEL | 0.118 | 2 | - | - |
XPR1 | - | - | - | - | 3 | Gain | - |
XYLB | p.V37Afs*3 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
XYLT1 | p.K774E | Missense | SNP | 0.500 | 2 | - | - |
XYLT2 | p.G529Afs*78 | Frame_Shift_Del | DEL | 0.951 | 2 | - | - |
YOD1 | - | - | - | - | 3 | Gain | - |
YTHDC2 | p.N676Tfs*9 | Frame_Shift_Del | DEL | 0.617 | 2 | - | - |
YTHDF3 | - | - | - | - | 3 | Gain | - |
YWHAZ | - | - | - | - | 3 | Gain | - |
YY1 | p.G189_G191del | In_Frame_Del | DEL | 0.360 | 2 | - | - |
YY1AP1 | - | - | - | - | 3 | Gain | - |
ZBED6 | - | - | - | - | 3 | Gain | - |
ZBTB10 | - | - | - | - | 3 | Gain | - |
ZBTB11 | p.L722I | Missense | SNP | 0.539 | 2 | - | - |
ZBTB17 | p.H412Y | Missense | SNP | 0.499 | 2 | - | - |
ZBTB18 | p.E444Rfs*19 | Frame_Shift_Del | DEL | 0.338 | 3 | Gain | - |
ZBTB20 | p.P692Lfs*43 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
ZBTB37 | - | - | - | - | 3 | Gain | - |
ZBTB4 | p.P4Lfs*4 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
ZBTB41 | - | - | - | - | 3 | Gain | - |
ZBTB5 | p.L52M | Missense | SNP | 0.465 | 2 | - | - |
ZBTB7A | p.V146Pfs*6 | Frame_Shift_Ins | INS | 0.463 | 2 | - | - |
ZBTB7B | - | - | - | - | 3 | Gain | - |
ZC2HC1A | - | - | - | - | 3 | Gain | - |
ZC3H11A | - | - | - | - | 3 | Gain | - |
ZC3H15 | p.G11Afs*21 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
ZC3H3 | - | - | - | - | 3 | Gain | - |
ZCCHC11 | p.E305Gfs*85 | Frame_Shift_Ins | INS | 0.372 | ND | ND | - |
ZCCHC24 | p.R194Afs*? | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
ZDBF2 | p.K1873E | Missense | SNP | 0.413 | 2 | - | - |
ZDHHC24 | p.T200M | Missense | SNP | 0.495 | 2 | - | - |
ZFAND1 | - | - | - | - | 3 | Gain | - |
ZFAT | - | - | - | - | 3 | Gain | - |
ZFC3H1 | p.K385Nfs*9 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
ZFHX3 | p.P534T | Missense | SNP | 0.519 | 2 | - | - |
ZFHX4 | - | - | - | - | 3 | Gain | - |
ZFP36L2 | p.A407Rfs*54 p.G107Afs*80 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.438 0.414 | 2 | - | - |
ZFP41 | - | - | - | - | 3 | Gain | - |
ZFP57 | p.C177Afs*25 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
ZFPL1 | p.G133D p.R222Q | Missense Missense | SNP SNP | 0.479 0.483 | 2 | - | - |
ZFPM2 | - | - | - | - | 3 | Gain | - |
ZFR | p.A43del | In_Frame_Del | DEL | 0.410 | 2 | - | - |
ZFYVE26 | p.Q1128H | Missense | SNP | 0.494 | 2 | - | - |
ZHX1 | - | - | - | - | 3 | Gain | - |
ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
ZHX2 | - | - | - | - | 3 | Gain | - |
ZMYM1 | p.E783K | Missense | SNP | 0.477 | 2 | - | - |
ZMYM2 | p.K1044Rfs*33 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
ZMYM3 | p.T407A | Missense | SNP | 0.510 | ND | ND | - |
ZMYND8 | p.K655Sfs*14 | Frame_Shift_Del | DEL | 0.935 | 2 | - | - |
ZNF124 | - | - | - | - | 3 | Gain | - |
ZNF16 | - | - | - | - | 3 | Gain | - |
ZNF17 | p.A310V | Missense | SNP | 0.500 | 2 | - | - |
ZNF175 | p.M317V | Missense | SNP | 0.475 | 2 | - | - |
ZNF224 | p.T451A p.R538* | Missense Nonsense | SNP SNP | 0.089 0.521 | 2 | - | - |
ZNF250 | - | - | - | - | 3 | Gain | - |
ZNF251 | - | - | - | - | 3 | Gain | - |
ZNF281 | - | - | - | - | 3 | Gain | - |
ZNF282 | p.A436V | Missense | SNP | 0.437 | 2 | - | - |
ZNF286A | p.S26I | Missense | SNP | 0.603 | 2 | - | - |
ZNF292 | p.S1288Pfs*23 | Frame_Shift_Del | DEL | 0.571 | 2 | - | - |
ZNF311 | p.P179H | Missense | SNP | 0.516 | 2 | - | - |
ZNF316 | p.G351S p.P610Q | Missense Missense | SNP SNP | 0.453 0.476 | 2 | - | - |
ZNF33B | p.T505Lfs*13 | Frame_Shift_Del | DEL | 0.404 | 2 | - | - |
ZNF34 | - | - | - | - | 3 | Gain | - |
ZNF395 | p.P442Gfs*42 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
ZNF444 | p.A310Rfs*2 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
ZNF445 | p.I618V | Missense | SNP | 0.406 | 2 | - | - |
ZNF496 | - | - | - | - | 3 | Gain | - |
ZNF514 | p.R221H | Missense | SNP | 0.067 | 2 | - | - |
ZNF517 | - | - | - | - | 3 | Gain | - |
ZNF518B | p.R859G | Missense | SNP | 0.421 | 2 | - | - |
ZNF549 | p.R376H | Missense | SNP | 0.425 | 2 | - | - |
ZNF572 | - | - | - | - | 3 | Gain | - |
ZNF623 | - | - | - | - | 3 | Gain | - |
ZNF648 | - | - | - | - | 3 | Gain | - |
ZNF669 | - | - | - | - | 3 | Gain | - |
ZNF670 | - | - | - | - | 3 | Gain | - |
ZNF670-ZNF695 | - | - | - | - | 3 | Gain | - |
ZNF672 | p.T349M | Missense | SNP | 0.347 | 3 | Gain | - |
ZNF675 | p.E525V | Missense | SNP | 0.487 | 2 | - | - |
ZNF678 | - | - | - | - | 3 | Gain | - |
ZNF681 | p.G512D | Missense | SNP | 0.446 | 2 | - | - |
ZNF687 | p.H733Pfs*5 | Frame_Shift_Ins | INS | 0.397 | 3 | Gain | - |
ZNF692 | - | - | - | - | 3 | Gain | - |
ZNF695 | - | - | - | - | 3 | Gain | - |
ZNF696 | - | - | - | - | 3 | Gain | - |
ZNF7 | - | - | - | - | 3 | Gain | - |
ZNF704 | - | - | - | - | 3 | Gain | - |
ZNF706 | - | - | - | - | 3 | Gain | - |
ZNF707 | - | - | - | - | 3 | Gain | - |
ZNF729 | p.K421Nfs*4 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
ZNF799 | p.W208Gfs*34 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
ZNF804A | p.P135H | Missense | SNP | 0.481 | 2 | - | - |
ZNF830 | p.F251Lfs*6 | Frame_Shift_Del | DEL | 0.533 | 2 | - | - |
ZNF835 | p.R62Kfs*35 | Frame_Shift_Ins | INS | 0.327 | 2 | - | - |
ZNF883 | p.E234G | Missense | SNP | 0.540 | 2 | - | - |
ZNFX1 | p.R967I | Missense | SNP | 0.417 | 2 | - | - |
ZNHIT6 | p.V127L | Missense | SNP | 0.444 | 2 | - | - |
ZNRF3 | p.S671Y | Missense | SNP | 0.543 | 2 | - | - |
ZP4 | - | - | - | - | 3 | Gain | - |
ZRANB2 | p.R301Kfs*34 | Frame_Shift_Ins | INS | 0.296 | 2 | - | - |
ZSCAN10 | p.A294T | Missense | SNP | 0.528 | 2 | - | - |