Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | No Data |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A2M | p.Y1197Tfs*12 | Frame_Shift_Del | DEL | 0.495 | 2 | - | ND |
A2ML1 | p.Y1438C | Missense | SNP | 0.482 | 2 | - | ND |
A4GNT | p.F23L | Missense | SNP | 0.496 | 2 | - | ND |
AARD | - | - | - | - | 3 | Gain | ND |
ABCA1 | - | - | - | - | 4 | Gain | ND |
ABCA10 | p.X1512_splice | Splice_Site | SNP | 0.458 | 2 | - | ND |
ABCA13 | p.L4357V | Missense | SNP | 0.443 | 2 | - | ND |
ABCA2 | - | - | - | - | 4 | Gain | ND |
ABCA4 | p.G1803C | Missense | SNP | 0.424 | 2 | - | ND |
ABCA7 | p.R825W | Missense | SNP | 0.500 | 2 | - | ND |
ABCB11 | p.G1011V | Missense | SNP | 0.547 | 2 | - | ND |
ABCB4 | p.A531Pfs*27 | Frame_Shift_Del | DEL | 0.355 | 2 | - | ND |
ABCC12 | p.S494* | Nonsense | SNP | 0.398 | 2 | - | ND |
ABCF1 | p.T40Rfs*8 | Frame_Shift_Del | DEL | 0.452 | 2 | - | ND |
ABHD16B | p.V282A | Missense | SNP | 0.468 | 2 | - | ND |
ABHD17A | p.A272T p.C191R | Missense Missense | SNP SNP | 0.714 0.451 | 2 | - | ND |
ABHD17B | - | - | - | - | 4 | Gain | ND |
ABHD18 | p.L342* | Frame_Shift_Del | DEL | 0.536 | 2 | - | ND |
ABL1 | p.I422Hfs*42 | Frame_Shift_Ins | INS | 0.309 | 4 | Gain | ND |
ABO | - | - | - | - | 4 | Gain | ND |
AC004754.1 | - | - | - | - | 1 | Loss | ND |
AC100868.1 | - | - | - | - | 3 | Gain | ND |
AC138647.1 | - | - | - | - | 3 | Gain | ND |
AC138696.1 | - | - | - | - | 3 | Gain | ND |
ACER2 | - | - | - | - | 3 | Gain | ND |
ACO1 | - | - | - | - | 3 | Gain | ND |
ACP1 | p.A45T | Missense | SNP | 0.525 | 2 | - | ND |
ACTG2 | p.R29Gfs*16 | Frame_Shift_Del | DEL | 0.455 | 2 | - | ND |
ACTL7A | - | - | - | - | 4 | Gain | ND |
ACTL7B | - | - | - | - | 4 | Gain | ND |
ACTN1 | p.D2Y | Missense | SNP | 0.470 | 2 | - | ND |
ACTRT2 | p.S159N | Missense | SNP | 0.536 | 2 | - | ND |
ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.893 | 2 | - | ND |
ACY3 | p.P260S | Missense | SNP | 0.524 | 2 | - | ND |
ADAM11 | p.F146S | Missense | SNP | 0.510 | 2 | - | ND |
ADAM19 | p.X437_splice | Splice_Site | SNP | 0.500 | 2 | - | ND |
ADAM21 | p.L684Cfs*3 | Frame_Shift_Del | DEL | 0.549 | 2 | - | ND |
ADAM33 | p.H128Pfs*34 | Frame_Shift_Ins | INS | 0.308 | 2 | - | ND |
ADAMTS12 | p.H928Y | Missense | SNP | 0.490 | 2 | - | ND |
ADAMTS13 | - | - | - | - | 4 | Gain | ND |
ADAMTS16 | p.H380R | Missense | SNP | 0.481 | 2 | - | ND |
ADAMTS19 | p.N949Kfs*8 | Frame_Shift_Ins | INS | 0.320 | 2 | - | ND |
ADAMTSL1 | - | - | - | - | 3 | Gain | ND |
ADAMTSL2 | p.P562H | Missense | SNP | 0.248 | 4 | Gain | ND |
ADAMTSL3 | p.R1291I | Missense | SNP | 0.472 | 2 | - | ND |
ADCK5 | - | - | - | - | 3 | Gain | ND |
ADCY1 | p.R835C | Missense | SNP | 0.476 | 2 | - | ND |
ADCY2 | p.R30Q p.A694V | Missense Missense | SNP SNP | 0.532 0.581 | 2 | - | ND |
ADCY8 | - | - | - | - | 3 | Gain | ND |
ADGRB1 | p.E1549G | Missense | SNP | 0.625 | 3 | Gain | ND |
ADGRD2 | - | - | - | - | 4 | Gain | ND |
ADGRL1 | p.V292M | Missense | SNP | 0.518 | 2 | - | ND |
ADGRV1 | p.Q1275H | Missense | SNP | 0.467 | 2 | - | ND |
ADNP2 | p.G966Vfs*3 | Frame_Shift_Del | DEL | 0.987 | 2 | - | ND |
ADORA2A | p.A265S | Missense | SNP | 0.471 | 2 | - | ND |
AFAP1L2 | p.A574T | Missense | SNP | 0.511 | 2 | - | ND |
AGBL5 | p.K423Qfs*28 | Frame_Shift_Ins | INS | 0.303 | 2 | - | ND |
AGK | p.P57S | Missense | SNP | 0.453 | 2 | - | ND |
AGO2 | - | - | - | - | 3 | Gain | ND |
AGPAT2 | - | - | - | - | 4 | Gain | ND |
AGT | p.T20N | Missense | SNP | 0.438 | 2 | - | ND |
AGTPBP1 | - | - | - | - | 4 | Gain | ND |
AGTR2 | p.F134Lfs*5 | Frame_Shift_Del | DEL | 0.917 | ND | ND | ND |
AIF1L | - | - | - | - | 4 | Gain | ND |
AIFM1 | p.G103W | Missense | SNP | 1.000 | ND | ND | ND |
AIM1 | p.R1310* | Nonsense | SNP | 0.496 | ND | ND | ND |
AIM1L | p.G1484Afs*27 | Frame_Shift_Del | DEL | 0.564 | ND | ND | ND |
AJM1 | - | - | - | - | 4 | Gain | ND |
AK1 | - | - | - | - | 4 | Gain | ND |
AK3 | - | - | - | - | 3 | Gain | ND |
AK8 | - | - | - | - | 4 | Gain | ND |
AK9 | p.R1209Gfs*39 | Frame_Shift_Del | DEL | 0.547 | 2 | - | ND |
AKAP2 | - | - | - | - | 4 | Gain | ND |
AKAP7 | p.G186del | In_Frame_Del | DEL | 0.385 | 2 | - | ND |
AKNA | p.G792Efs*49 | Frame_Shift_Del | DEL | 0.471 | 4 | Gain | ND |
AKR1B1 | p.R269H | Missense | SNP | 0.527 | 2 | - | ND |
AKR1E2 | p.S226P | Missense | SNP | 0.376 | 2 | - | ND |
AKR7A3 | p.A301T | Missense | SNP | 0.505 | 2 | - | ND |
AKT3 | p.R220H | Missense | SNP | 0.456 | 2 | - | ND |
AL133410.3 | - | - | - | - | 3 | Gain | ND |
AL138752.2 | - | - | - | - | 3 | Gain | ND |
AL157935.2 | - | - | - | - | 4 | Gain | ND |
AL160269.1 | - | - | - | - | 4 | Gain | ND |
AL160272.2 | - | - | - | - | 4 | Gain | ND |
AL162231.1 | - | - | - | - | 3 | Gain | ND |
AL162231.3 | - | - | - | - | 3 | Gain | ND |
AL162417.1 | - | - | - | - | 4 | Gain | ND |
AL355987.1 | - | - | - | - | 4 | Gain | ND |
AL355987.3 | - | - | - | - | 4 | Gain | ND |
AL358113.1 | - | - | - | - | 4 | Gain | ND |
AL359922.1 | - | - | - | - | 3 | Gain | ND |
AL513165.2 | - | - | - | - | 3 | Gain | ND |
AL672142.1 | - | - | - | - | 4 | Gain | ND |
AL807752.6 | - | - | - | - | 4 | Gain | ND |
AL807752.7 | - | - | - | - | 4 | Gain | ND |
AL929554.1 | - | - | - | - | 4 | Gain | ND |
ALAD | - | - | - | - | 4 | Gain | ND |
ALAS1 | p.R465W | Missense | SNP | 0.518 | 2 | - | ND |
ALDH1A1 | - | - | - | - | 4 | Gain | ND |
ALDH1A3 | p.R93W | Missense | SNP | 0.644 | 2 | - | ND |
ALDH1B1 | - | - | - | - | 3 | Gain | ND |
ALDOB | - | - | - | - | 4 | Gain | ND |
ALG11 | p.Y18Ifs*35 p.G421Afs*14 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.431 0.494 | 2 | - | ND |
ALG2 | - | - | - | - | 4 | Gain | ND |
ALKBH1 | p.T266Rfs*11 | Frame_Shift_Del | DEL | 0.430 | 2 | - | ND |
ALKBH8 | p.K602T | Missense | SNP | 0.529 | 2 | - | ND |
ALOX5 | p.M460I | Missense | SNP | 0.498 | 2 | - | ND |
ALPK3 | p.K970Nfs*12 | Frame_Shift_Del | DEL | 0.464 | 2 | - | ND |
ALS2 | p.L625* | Frame_Shift_Del | DEL | 0.546 | 2 | - | ND |
AMBP | - | - | - | - | 4 | Gain | ND |
AMY1A | - | - | - | - | 1 | Loss | ND |
AMY1B | - | - | - | - | 1 | Loss | ND |
AMY1C | - | - | - | - | 1 | Loss | ND |
AMY2A | - | - | - | - | 1 | Loss | ND |
AMY2B | - | - | - | - | 1 | Loss | ND |
AMZ1 | p.I160M | Missense | SNP | 0.367 | 2 | - | ND |
ANAPC2 | - | - | - | - | 4 | Gain | ND |
ANGPTL2 | - | - | - | - | 4 | Gain | ND |
ANKAR | p.A1274D | Missense | SNP | 0.421 | 2 | - | ND |
ANKEF1 | p.M260V | Missense | SNP | 0.438 | 2 | - | ND |
ANKRD18A | - | - | - | - | 3 | Gain | ND |
ANKRD18B | - | - | - | - | 3 | Gain | ND |
ANKRD23 | p.K58del | In_Frame_Del | DEL | 0.333 | 2 | - | ND |
ANKRD27 | p.I94T | Missense | SNP | 0.428 | 2 | - | ND |
ANKRD49 | p.M70Wfs*32 | Frame_Shift_Del | DEL | 0.349 | 2 | - | ND |
ANKRD52 | p.L708del p.T756M | In_Frame_Del Missense | DEL SNP | 0.403 0.528 | 2 | - | ND |
ANKRD53 | p.S422G | Missense | SNP | 0.463 | 2 | - | ND |
ANKS6 | - | - | - | - | 4 | Gain | ND |
ANKZF1 | p.P353H | Missense | SNP | 0.376 | 2 | - | ND |
ANO2 | p.P131L | Missense | SNP | 0.489 | 2 | - | ND |
ANO5 | p.D157V | Missense | SNP | 0.443 | 2 | - | ND |
ANO8 | p.T643A | Missense | SNP | 0.458 | 2 | - | ND |
ANP32B | - | - | - | - | 4 | Gain | ND |
ANXA1 | - | - | - | - | 4 | Gain | ND |
ANXA13 | - | - | - | - | 3 | Gain | ND |
ANXA2 | p.Y42H | Missense | SNP | 0.438 | 2 | - | ND |
AOAH | p.S155I | Missense | SNP | 0.489 | 2 | - | ND |
AOC3 | p.C41R | Missense | SNP | 0.403 | 2 | - | ND |
AP2B1 | p.A785V | Missense | SNP | 0.531 | 2 | - | ND |
AP3B1 | - | - | - | - | 1 | Loss | ND |
AP3M2 | p.L323P | Missense | SNP | 0.489 | 2 | - | ND |
AP5Z1 | p.V763M | Missense | SNP | 0.086 | 2 | - | ND |
APBA1 | - | - | - | - | 4 | Gain | ND |
APBA2 | p.P630A | Missense | SNP | 0.487 | 2 | - | ND |
APC2 | p.L1016Pfs*74 | Frame_Shift_Ins | INS | 0.321 | 2 | - | ND |
APOE | p.V65A | Missense | SNP | 0.333 | 2 | - | ND |
APTX | - | - | - | - | 3 | Gain | ND |
AQP1 | p.M96I | Missense | SNP | 0.473 | 2 | - | ND |
AQP3 | - | - | - | - | 3 | Gain | ND |
AQP7 | - | - | - | - | 3 | Gain | ND |
ARC | - | - | - | - | 3 | Gain | ND |
AREG | p.C252Vfs*31 | Frame_Shift_Del | DEL | 0.524 | 2 | - | ND |
ARFGAP2 | p.R93Afs*43 | Frame_Shift_Del | DEL | 0.153 | 2 | - | ND |
ARFGEF3 | p.E1459D | Missense | SNP | 0.448 | 2 | - | ND |
ARGLU1 | p.R141Gfs*61 | Frame_Shift_Del | DEL | 0.450 | 2 | - | ND |
ARHGAP1 | p.L237Cfs*135 | Frame_Shift_Del | DEL | 0.381 | 2 | - | ND |
ARHGAP15 | p.Q382R | Missense | SNP | 0.407 | 2 | - | ND |
ARHGAP22 | p.S698Rfs*3 | Frame_Shift_Del | DEL | 0.080 | 2 | - | ND |
ARHGAP29 | p.S882A | Missense | SNP | 0.467 | 2 | - | ND |
ARHGAP30 | p.A675T | Missense | SNP | 0.443 | 2 | - | ND |
ARHGAP39 | - | - | - | - | 3 | Gain | ND |
ARHGAP44 | p.R483C | Missense | SNP | 0.509 | 2 | - | ND |
ARHGAP5 | p.F892Lfs*9 | Frame_Shift_Del | DEL | 0.542 | 2 | - | ND |
ARHGDIG | - | - | - | - | 1 | Loss | ND |
ARHGEF39 | - | - | - | - | 3 | Gain | ND |
ARID1A | p.L1176Ifs*17 p.D1850Tfs*33 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.288 0.483 | 2 | - | ND |
ARID3C | - | - | - | - | 3 | Gain | ND |
ARMS2 | - | - | - | - | 1 | Loss | ND |
ARPC5L | - | - | - | - | 4 | Gain | ND |
ARRB2 | p.P90Rfs*17 | Frame_Shift_Del | DEL | 0.349 | 2 | - | ND |
ARRDC1 | - | - | - | - | 4 | Gain | ND |
ARSD | p.Q117R | Missense | SNP | 1.000 | ND | ND | ND |
ARTN | p.E46D | Missense | SNP | 0.469 | 2 | - | ND |
ASAP1 | - | - | - | - | 3 | Gain | ND |
ASAP2 | p.Q818* | Nonsense | SNP | 0.528 | 2 | - | ND |
ASB18 | p.L446Cfs*? | Frame_Shift_Del | DEL | 0.108 | 2 | - | ND |
ASB6 | - | - | - | - | 4 | Gain | ND |
ASCC3 | p.F163Lfs*5 p.R1762C | Frame_Shift_Del Missense | DEL SNP | 0.507 0.449 | 2 | - | ND |
ASCL4 | p.V143A | Missense | SNP | 0.497 | 2 | - | ND |
ASPN | - | - | - | - | 4 | Gain | ND |
ASS1 | - | - | - | - | 4 | Gain | ND |
ASTN2 | - | - | - | - | 4 | Gain | ND |
ASXL2 | p.M590V | Missense | SNP | 0.486 | 2 | - | ND |
ATAD2 | - | - | - | - | 3 | Gain | ND |
ATF5 | p.P131L | Missense | SNP | 0.500 | 2 | - | ND |
ATG2B | p.G1924V p.S379F | Missense Missense | SNP SNP | 0.411 0.540 | 2 | - | ND |
ATHL1 | p.P185Qfs*3 | Frame_Shift_Del | DEL | 0.487 | ND | ND | ND |
ATP10A | p.X283_splice | Splice_Site | SNP | 0.466 | 2 | - | ND |
ATP12A | p.R496C | Missense | SNP | 0.410 | 2 | - | ND |
ATP2A3 | p.A374V | Missense | SNP | 0.471 | 2 | - | ND |
ATP2C2 | p.V810A | Missense | SNP | 0.519 | 2 | - | ND |
ATP6AP1L | p.G133Dfs*18 | Frame_Shift_Del | DEL | 0.392 | 2 | - | ND |
ATP6V1C1 | p.D49Y | Missense | SNP | 0.534 | 2 | - | ND |
ATP6V1G1 | - | - | - | - | 4 | Gain | ND |
ATP7B | p.X1341_splice | Splice_Site | SNP | 0.518 | 2 | - | ND |
ATP8B1 | p.N205Kfs*2 | Frame_Shift_Ins | INS | 0.453 | 2 | - | ND |
ATXN1 | p.F651Lfs*40 p.Q207H | Frame_Shift_Del Missense | DEL SNP | 0.419 0.236 | 2 | - | ND |
AUH | - | - | - | - | 4 | Gain | ND |
AUTS2 | p.V97A | Missense | SNP | 0.435 | 2 | - | ND |
AXDND1 | p.E994Q | Missense | SNP | 0.423 | 2 | - | ND |
AXIN1 | p.V835Wfs*103 | Frame_Shift_Del | DEL | 0.979 | 1 | Loss | ND |
AXIN2 | p.R671Afs*18 | Frame_Shift_Del | DEL | 0.113 | 2 | - | ND |
B3GLCT | p.S80Afs*3 | Frame_Shift_Del | DEL | 0.527 | 2 | - | ND |
B4GALNT4 | p.R307Vfs*100 | Frame_Shift_Del | DEL | 0.438 | 2 | - | ND |
B4GALT1 | - | - | - | - | 3 | Gain | ND |
BAAT | p.M1? | Frame_Shift_Del | DEL | 0.143 | 4 | Gain | ND |
BAG1 | - | - | - | - | 3 | Gain | ND |
BAHCC1 | p.A553V p.L2483R | Missense Missense | SNP SNP | 0.592 0.502 | 2 | - | ND |
BAHD1 | p.R678H | Missense | SNP | 0.469 | 2 | - | ND |
BARHL1 | - | - | - | - | 4 | Gain | ND |
BARX1 | - | - | - | - | 4 | Gain | ND |
BAX | p.E41Gfs*20 | Frame_Shift_Ins | INS | 0.221 | 2 | - | ND |
BAZ1A | p.L1455* | Frame_Shift_Del | DEL | 0.498 | 2 | - | ND |
BCL11A | p.S767N p.Q371R | Missense Missense | SNP SNP | 0.500 0.536 | 2 | - | ND |
BCL6B | p.Y275Lfs*16 | Frame_Shift_Ins | INS | 0.278 | 2 | - | ND |
BCL9 | p.G1278D | Missense | SNP | 0.485 | 2 | - | ND |
BCL9L | p.P1128Tfs*42 | Frame_Shift_Ins | INS | 0.306 | 2 | - | ND |
BEAN1 | p.H77R | Missense | SNP | 0.487 | 2 | - | ND |
BICD1 | p.T93M | Missense | SNP | 0.345 | 2 | - | ND |
BICD2 | - | - | - | - | 4 | Gain | ND |
BLM | p.K1217Nfs*62 | Frame_Shift_Del | DEL | 0.497 | 2 | - | ND |
BMPR2 | p.K457Nfs*17 p.N583Tfs*44 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.294 0.479 | 2 | - | ND |
BNC2 | p.R351W | Missense | SNP | 0.385 | 3 | Gain | ND |
BNIP1 | p.F76Lfs*3 | Frame_Shift_Del | DEL | 0.333 | 2 | - | ND |
BOP1 | p.N634del | In_Frame_Del | DEL | 0.314 | 2 | - | ND |
BPIFB4 | p.P73Qfs*160 | Frame_Shift_Del | DEL | 0.937 | 2 | - | ND |
BRAF | p.V600E | Missense | SNP | 0.500 | 2 | - | ND |
BRAP | p.D523Ifs*79 | Frame_Shift_Del | DEL | 0.510 | 2 | - | ND |
BRCA2 | p.V1862* | Frame_Shift_Del | DEL | 0.429 | 2 | - | ND |
BRD2 | p.L357* | Frame_Shift_Del | DEL | 0.503 | 2 | - | ND |
BRD3 | - | - | - | - | 4 | Gain | ND |
BRF1 | p.S553R | Missense | SNP | 0.397 | 2 | - | ND |
BRINP1 | - | - | - | - | 4 | Gain | ND |
BRIX1 | p.I64T | Missense | SNP | 0.450 | 2 | - | ND |
BRWD1 | p.T1816Pfs*4 p.K2148T | Frame_Shift_Del Missense | DEL SNP | 0.477 0.388 | 2 | - | ND |
BRWD3 | p.R1707Efs*12 | Frame_Shift_Ins | INS | 0.420 | ND | ND | ND |
BSCL2 | p.G325Afs*75 | Frame_Shift_Del | DEL | 0.439 | 2 | - | ND |
BSDC1 | p.G94W | Missense | SNP | 0.413 | 2 | - | ND |
BSN | p.R489S | Missense | SNP | 0.481 | 2 | - | ND |
BSPRY | - | - | - | - | 4 | Gain | ND |
BTBD16 | - | - | - | - | 1 | Loss | ND |
BTBD7 | p.N566Mfs*22 p.Y324Ifs*22 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.473 0.292 | 2 | - | ND |
BUB1 | p.A714V | Missense | SNP | 0.541 | 2 | - | ND |
BVES | p.L228Ffs*20 | Frame_Shift_Ins | INS | 0.305 | 2 | - | ND |
BZW1 | p.N317Kfs*54 | Frame_Shift_Ins | INS | 0.308 | 2 | - | ND |
C11orf57 | p.K161Sfs*20 | Frame_Shift_Del | DEL | 0.406 | ND | ND | ND |
C12orf66 | p.A248V | Missense | SNP | 0.509 | 2 | - | ND |
C14orf159 | p.X482_splice | Splice_Site | SNP | 0.509 | ND | ND | ND |
C16orf62 | p.X876_splice | Splice_Site | SNP | 0.484 | ND | ND | ND |
C17orf75 | p.L155* | Frame_Shift_Del | DEL | 0.418 | 2 | - | ND |
C17orf97 | p.D238N | Missense | SNP | 0.487 | 2 | - | ND |
C19orf68 | p.R318H | Missense | SNP | 0.443 | ND | ND | ND |
C19orf70 | p.A73Pfs*39 | Frame_Shift_Del | DEL | 0.416 | 2 | - | ND |
C1orf141 | p.D10A | Missense | SNP | 0.468 | 2 | - | ND |
C1orf43 | p.D83del | In_Frame_Del | DEL | 0.434 | 2 | - | ND |
C21orf59 | p.G180V | Missense | SNP | 0.478 | ND | ND | ND |
C22orf31 | p.Q117R | Missense | SNP | 0.419 | 2 | - | ND |
C2orf42 | p.K410Nfs*38 | Frame_Shift_Del | DEL | 0.574 | 2 | - | ND |
C2orf71 | p.R1047* | Nonsense | SNP | 0.423 | ND | ND | ND |
C2orf78 | p.A474V | Missense | SNP | 0.417 | 2 | - | ND |
C5 | - | - | - | - | 4 | Gain | ND |
C6orf10 | p.T156P | Missense | SNP | 0.522 | 2 | - | ND |
C6orf132 | p.P277Rfs*240 | Frame_Shift_Del | DEL | 0.519 | 2 | - | ND |
C6orf89 | p.Q61Afs*10 | Frame_Shift_Ins | INS | 0.246 | 2 | - | ND |
C8G | - | - | - | - | 4 | Gain | ND |
C8orf33 | - | - | - | - | 3 | Gain | ND |
C8orf76 | - | - | - | - | 3 | Gain | ND |
C8orf82 | - | - | - | - | 3 | Gain | ND |
C9orf116 | - | - | - | - | 4 | Gain | ND |
C9orf129 | - | - | - | - | 4 | Gain | ND |
C9orf131 | - | - | - | - | 3 | Gain | ND |
C9orf135 | - | - | - | - | 4 | Gain | ND |
C9orf152 | - | - | - | - | 4 | Gain | ND |
C9orf153 | - | - | - | - | 4 | Gain | ND |
C9orf16 | - | - | - | - | 4 | Gain | ND |
C9orf24 | - | - | - | - | 3 | Gain | ND |
C9orf3 | - | - | - | - | 4 | Gain | ND |
C9orf40 | - | - | - | - | 4 | Gain | ND |
C9orf43 | - | - | - | - | 4 | Gain | ND |
C9orf50 | - | - | - | - | 4 | Gain | ND |
C9orf57 | - | - | - | - | 4 | Gain | ND |
C9orf64 | - | - | - | - | 4 | Gain | ND |
C9orf66 | - | - | - | - | 3 | Gain | ND |
C9orf72 | - | - | - | - | 3 | Gain | ND |
C9orf78 | - | - | - | - | 4 | Gain | ND |
C9orf84 | - | - | - | - | 4 | Gain | ND |
C9orf85 | - | - | - | - | 4 | Gain | ND |
C9orf92 | - | - | - | - | 3 | Gain | ND |
CA9 | - | - | - | - | 3 | Gain | ND |
CAAP1 | p.D265N | Missense | SNP | 0.293 | 3 | Gain | ND |
CACFD1 | - | - | - | - | 4 | Gain | ND |
CACNA1A | p.L343Sfs*10 | Frame_Shift_Del | DEL | 0.387 | 2 | - | ND |
CACNA1B | p.F1309Sfs*48 | Frame_Shift_Del | DEL | 0.277 | 4 | Gain | ND |
CACNA1C | p.Q1069R p.G2071V | Missense Missense | SNP SNP | 0.467 0.480 | 2 | - | ND |
CACNA1D | p.L1536M | Missense | SNP | 0.439 | 2 | - | ND |
CACNA1F | p.C1151Y | Missense | SNP | 1.000 | ND | ND | ND |
CACNA1G | p.G2232Wfs*33 p.V96M | Frame_Shift_Ins Missense | INS SNP | 0.312 0.407 | 2 | - | ND |
CACNA1I | p.H1091Mfs*43 | Frame_Shift_Del | DEL | 0.447 | 2 | - | ND |
CALHM2 | p.T32A | Missense | SNP | 0.440 | 2 | - | ND |
CALY | p.D167Y | Missense | SNP | 0.511 | 2 | - | ND |
CAMSAP1 | - | - | - | - | 4 | Gain | ND |
CAMTA1 | p.K1589Nfs*33 p.A810V | Frame_Shift_Del Missense | DEL SNP | 0.476 0.491 | 2 | - | ND |
CAPN3 | p.G308C | Missense | SNP | 0.483 | 2 | - | ND |
CAPN9 | p.Q27K | Missense | SNP | 0.456 | 2 | - | ND |
CAPS | p.M90Cfs*24 | Frame_Shift_Del | DEL | 0.395 | 2 | - | ND |
CAPZB | p.R44C | Missense | SNP | 0.526 | 2 | - | ND |
CARD11 | p.Q288H | Missense | SNP | 0.507 | 2 | - | ND |
CARD19 | - | - | - | - | 4 | Gain | ND |
CARD9 | - | - | - | - | 4 | Gain | ND |
CARF | p.T716Lfs*25 | Frame_Shift_Del | DEL | 0.438 | 2 | - | ND |
CARMIL3 | p.E269K | Missense | SNP | 0.484 | 2 | - | ND |
CARNMT1 | - | - | - | - | 4 | Gain | ND |
CASD1 | - | - | - | - | 1 | Loss | ND |
CASZ1 | p.A806T | Missense | SNP | 0.564 | 2 | - | ND |
CAVIN4 | - | - | - | - | 4 | Gain | ND |
CBL | p.P828L | Missense | SNP | 0.482 | 2 | - | ND |
CBLB | p.R412H | Missense | SNP | 0.241 | 2 | - | ND |
CBLC | p.L230P | Missense | SNP | 0.496 | 2 | - | ND |
CBWD1 | - | - | - | - | 3 | Gain | ND |
CBWD3 | - | - | - | - | 3 | Gain | ND |
CBWD5 | - | - | - | - | 3 | Gain | ND |
CBWD6 | - | - | - | - | 3 | Gain | ND |
CBX4 | p.X83_splice | Splice_Site | SNP | 0.548 | 2 | - | ND |
CC2D1A | p.G303Vfs*131 p.M884T | Frame_Shift_Del Missense | DEL SNP | 0.462 0.413 | 2 | - | ND |
CCDC107 | - | - | - | - | 3 | Gain | ND |
CCDC166 | - | - | - | - | 3 | Gain | ND |
CCDC168 | p.F7017Lfs*25 | Frame_Shift_Del | DEL | 0.884 | 2 | - | ND |
CCDC171 | - | - | - | - | 3 | Gain | ND |
CCDC180 | p.Q1564R | Missense | SNP | 0.312 | 4 | Gain | ND |
CCDC183 | - | - | - | - | 4 | Gain | ND |
CCDC88B | p.X1311_splice | Splice_Site | SNP | 0.526 | 2 | - | ND |
CCDC93 | p.K571E p.Q415L | Missense Missense | SNP SNP | 0.571 0.511 | 2 | - | ND |
CCIN | - | - | - | - | 3 | Gain | ND |
CCL19 | - | - | - | - | 3 | Gain | ND |
CCL21 | - | - | - | - | 3 | Gain | ND |
CCL27 | - | - | - | - | 3 | Gain | ND |
CCNH | p.A216V | Missense | SNP | 0.400 | 2 | - | ND |
CCSER2 | p.S985Qfs*14 | Frame_Shift_Del | DEL | 0.365 | 2 | - | ND |
CCT2 | p.X526_splice | Splice_Site | SNP | 0.512 | 2 | - | ND |
CD163L1 | p.I886Hfs*35 | Frame_Shift_Ins | INS | 0.325 | 2 | - | ND |
CD180 | p.L58Wfs*20 | Frame_Shift_Del | DEL | 0.427 | 2 | - | ND |
CD1D | p.Y262H | Missense | SNP | 0.411 | 2 | - | ND |
CD200 | p.R201W | Missense | SNP | 0.470 | 2 | - | ND |
CD274 | - | - | - | - | 3 | Gain | ND |
CD40 | p.I204F | Missense | SNP | 0.402 | 2 | - | ND |
CD58 | p.R80M | Missense | SNP | 0.623 | 2 | - | ND |
CD72 | - | - | - | - | 3 | Gain | ND |
CD79A | p.K141N | Missense | SNP | 0.455 | 2 | - | ND |
CD82 | p.V100M | Missense | SNP | 0.477 | 2 | - | ND |
CD93 | p.E121Rfs*79 | Frame_Shift_Del | DEL | 0.574 | 2 | - | ND |
CDADC1 | p.E204G | Missense | SNP | 0.482 | 2 | - | ND |
CDC14B | - | - | - | - | 4 | Gain | ND |
CDC26 | - | - | - | - | 4 | Gain | ND |
CDC37L1 | - | - | - | - | 3 | Gain | ND |
CDC42BPG | p.L498P | Missense | SNP | 0.465 | 2 | - | ND |
CDH22 | p.G625S | Missense | SNP | 0.540 | 2 | - | ND |
CDH23 | p.T997M | Missense | SNP | 0.469 | 2 | - | ND |
CDHR2 | p.D54E | Missense | SNP | 0.477 | 2 | - | ND |
CDK12 | p.P565H | Missense | SNP | 0.444 | 2 | - | ND |
CDK20 | - | - | - | - | 4 | Gain | ND |
CDK5R1 | p.S122Lfs*29 | Frame_Shift_Ins | INS | 0.277 | 2 | - | ND |
CDK5RAP2 | p.K471Nfs*8 | Frame_Shift_Del | DEL | 0.289 | 4 | Gain | ND |
CDK9 | - | - | - | - | 4 | Gain | ND |
CDKN1A | p.T55A | Missense | SNP | 0.473 | 2 | - | ND |
CDKN2A | - | - | - | - | 3 | Gain | ND |
CDKN2B | - | - | - | - | 3 | Gain | ND |
CDNF | p.K115R | Missense | SNP | 0.502 | 2 | - | ND |
CDPF1 | p.N33Tfs*14 | Frame_Shift_Del | DEL | 0.444 | 2 | - | ND |
CECR2 | p.N658Qfs*5 | Frame_Shift_Ins | INS | 0.303 | 2 | - | ND |
CECR6 | p.A288S | Missense | SNP | 0.535 | ND | ND | ND |
CEL | - | - | - | - | 4 | Gain | ND |
CELF2 | p.A272V | Missense | SNP | 0.486 | 2 | - | ND |
CELF4 | p.Y102H | Missense | SNP | 0.483 | 2 | - | ND |
CELSR1 | p.E2221A | Missense | SNP | 0.478 | 2 | - | ND |
CEMIP2 | - | - | - | - | 4 | Gain | ND |
CENPP | - | - | - | - | 4 | Gain | ND |
CEP112 | p.Q899R | Missense | SNP | 0.509 | 2 | - | ND |
CEP162 | p.F406Lfs*8 | Frame_Shift_Del | DEL | 0.444 | 2 | - | ND |
CEP78 | - | - | - | - | 4 | Gain | ND |
CER1 | - | - | - | - | 3 | Gain | ND |
CERCAM | - | - | - | - | 4 | Gain | ND |
CERS3 | p.A103S | Missense | SNP | 0.523 | 2 | - | ND |
CES2 | p.T296M | Missense | SNP | 0.573 | 2 | - | ND |
CFAP157 | - | - | - | - | 4 | Gain | ND |
CFAP206 | p.N477Ifs*4 | Frame_Shift_Del | DEL | 0.461 | 2 | - | ND |
CFAP77 | - | - | - | - | 4 | Gain | ND |
CFHR5 | p.R385Gfs*17 | Frame_Shift_Del | DEL | 0.543 | 2 | - | ND |
CHD3 | p.E1711Gfs*30 | Frame_Shift_Ins | INS | 0.305 | 2 | - | ND |
CHD6 | p.E1346D | Missense | SNP | 0.472 | 2 | - | ND |
CHFR | p.R639Pfs*2 p.P535Rfs*16 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.325 0.369 | 2 | - | ND |
CHMP5 | - | - | - | - | 3 | Gain | ND |
CHPT1 | p.F162Sfs*23 | Frame_Shift_Del | DEL | 0.467 | 2 | - | ND |
CHRAC1 | - | - | - | - | 3 | Gain | ND |
CIC | p.T1568A | Missense | SNP | 0.462 | 2 | - | ND |
CIITA | p.F119Sfs*2 | Frame_Shift_Del | DEL | 0.422 | 2 | - | ND |
CIZ1 | - | - | - | - | 4 | Gain | ND |
CKS2 | - | - | - | - | 4 | Gain | ND |
CLEC3A | p.E201K | Missense | SNP | 0.458 | 2 | - | ND |
CLIC3 | p.G105S | Missense | SNP | 0.273 | 4 | Gain | ND |
CLOCK | p.L123* | Frame_Shift_Del | DEL | 0.484 | 2 | - | ND |
CLPP | p.A10Gfs*65 | Frame_Shift_Ins | INS | 0.298 | 2 | - | ND |
CLRN1 | p.P31S | Missense | SNP | 0.523 | 2 | - | ND |
CLTA | - | - | - | - | 3 | Gain | ND |
CMYA5 | p.S781* | Nonsense | SNP | 0.489 | 2 | - | ND |
CNNM1 | p.A2V | Missense | SNP | 0.470 | 2 | - | ND |
CNTFR | - | - | - | - | 3 | Gain | ND |
CNTLN | p.A72Gfs*51 | Frame_Shift_Ins | INS | 0.225 | 3 | Gain | ND |
CNTN6 | p.K418Sfs*63 p.A908E | Frame_Shift_Del Missense | DEL SNP | 0.541 0.417 | 2 | - | ND |
CNTNAP3 | - | - | - | - | 3 | Gain | ND |
CNTNAP3B | - | - | - | - | 3 | Gain | ND |
CNTNAP3C | - | - | - | - | 3 | Gain | ND |
CNTRL | - | - | - | - | 4 | Gain | ND |
CNTROB | p.S45R | Missense | SNP | 0.477 | 2 | - | ND |
COG1 | p.E726A | Missense | SNP | 0.590 | 2 | - | ND |
COL11A1 | p.P474Qfs*20 | Frame_Shift_Del | DEL | 0.321 | 2 | - | ND |
COL12A1 | p.H2649Tfs*6 | Frame_Shift_Del | DEL | 0.533 | 2 | - | ND |
COL13A1 | p.E543Rfs*51 | Frame_Shift_Del | DEL | 0.400 | 2 | - | ND |
COL14A1 | - | - | - | - | 3 | Gain | ND |
COL15A1 | - | - | - | - | 4 | Gain | ND |
COL1A2 | - | - | - | - | 1 | Loss | ND |
COL22A1 | - | - | - | - | 3 | Gain | ND |
COL27A1 | - | - | - | - | 4 | Gain | ND |
COL4A3 | - | - | - | - | 1 | Loss | ND |
COL4A4 | p.G737E | Missense | SNP | 0.425 | 1 | Loss | ND |
COL4A6 | p.T1623I | Missense | SNP | 1.000 | ND | ND | ND |
COL5A1 | - | - | - | - | 4 | Gain | ND |
COL5A2 | - | - | - | - | 1 | Loss | ND |
COL6A5 | p.F1867Lfs*50 | Frame_Shift_Del | DEL | 0.459 | 2 | - | ND |
COL7A1 | p.G2251W | Missense | SNP | 0.504 | 2 | - | ND |
COL8A1 | p.G672Afs*14 | Frame_Shift_Del | DEL | 0.428 | 2 | - | ND |
COL9A3 | p.A542V | Missense | SNP | 0.349 | 2 | - | ND |
COLEC10 | - | - | - | - | 3 | Gain | ND |
COLGALT1 | p.A374V | Missense | SNP | 0.400 | 2 | - | ND |
COMMD5 | - | - | - | - | 3 | Gain | ND |
COPE | p.V189Sfs*55 | Frame_Shift_Del | DEL | 0.530 | 2 | - | ND |
COQ10B | p.S183Qfs*23 | Frame_Shift_Del | DEL | 0.521 | 2 | - | ND |
COQ4 | - | - | - | - | 4 | Gain | ND |
CORO2A | - | - | - | - | 4 | Gain | ND |
CP | p.M1? | Frame_Shift_Del | DEL | 0.246 | 2 | - | ND |
CPE | p.A11T | Missense | SNP | 0.486 | 2 | - | ND |
CPS1 | p.R912Gfs*26 | Frame_Shift_Del | DEL | 0.391 | 2 | - | ND |
CPSF1 | - | - | - | - | 3 | Gain | ND |
CPVL | p.K265Sfs*11 | Frame_Shift_Del | DEL | 0.430 | 2 | - | ND |
CPXM1 | p.F694Ifs*47 | Frame_Shift_Ins | INS | 0.304 | 2 | - | ND |
CR1 | p.I1796M | Missense | SNP | 0.479 | 2 | - | ND |
CR2 | p.P27L | Missense | SNP | 0.452 | 2 | - | ND |
CRAT | - | - | - | - | 4 | Gain | ND |
CRB2 | - | - | - | - | 4 | Gain | ND |
CREB3 | - | - | - | - | 3 | Gain | ND |
CREBBP | p.I1084Sfs*15 | Frame_Shift_Del | DEL | 0.449 | 2 | - | ND |
CROT | p.C43Y | Missense | SNP | 0.494 | 2 | - | ND |
CRYBG3 | p.L2804Ffs*10 | Frame_Shift_Ins | INS | 0.341 | 2 | - | ND |
CRYM | p.F34L | Missense | SNP | 0.381 | 2 | - | ND |
CSF2 | p.G85Afs*10 | Frame_Shift_Del | DEL | 0.415 | 2 | - | ND |
CSMD1 | p.K3550Rfs*3 p.R302S | Frame_Shift_Del Missense | DEL SNP | 0.460 0.479 | 2 | - | ND |
CSMD3 | p.T3702M p.E2501D | Missense Missense | SNP SNP | 0.538 0.407 | 2 | - | ND |
CSNK1D | p.I68S | Missense | SNP | 0.559 | 2 | - | ND |
CTB-133G6.1 | p.V186A | Missense | SNP | 0.487 | ND | ND | ND |
CTB-50L17.10 | p.E621V | Missense | SNP | 0.493 | ND | ND | ND |
CTC-534A2.2 | p.N144Tfs*13 | Frame_Shift_Del | DEL | 0.455 | ND | ND | ND |
CTNNAL1 | - | - | - | - | 4 | Gain | ND |
CTNND2 | p.E899D | Missense | SNP | 0.443 | 2 | - | ND |
CTRB1 | p.P41Qfs*19 | Frame_Shift_Del | DEL | 0.452 | 2 | - | ND |
CTSC | p.F105Lfs*10 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
CTSL | - | - | - | - | 4 | Gain | ND |
CTSV | p.A17T | Missense | SNP | 0.455 | 4 | Gain | ND |
CTSZ | p.X103_splice | Splice_Site | SNP | 0.552 | 2 | - | ND |
CUBN | p.Q3289* p.E2827K | Nonsense Missense | SNP SNP | 0.521 0.509 | 2 | - | ND |
CUL1 | p.D516Rfs*47 | Frame_Shift_Ins | INS | 0.302 | 2 | - | ND |
CWC22 | p.G131R | Missense | SNP | 0.463 | 2 | - | ND |
CYB5D2 | p.R239H | Missense | SNP | 0.443 | 2 | - | ND |
CYC1 | p.S93Qfs*26 | Frame_Shift_Ins | INS | 0.352 | 3 | Gain | ND |
CYGB | p.W190Gfs*13 | Frame_Shift_Del | DEL | 0.393 | 2 | - | ND |
CYHR1 | - | - | - | - | 3 | Gain | ND |
CYLC2 | - | - | - | - | 4 | Gain | ND |
CYP11B1 | - | - | - | - | 3 | Gain | ND |
CYP11B2 | - | - | - | - | 3 | Gain | ND |
CYP27B1 | p.V75M | Missense | SNP | 0.504 | 2 | - | ND |
CYP2D6 | p.N398S | Missense | SNP | 0.212 | 2 | - | ND |
CYSRT1 | - | - | - | - | 4 | Gain | ND |
DAB2IP | - | - | - | - | 4 | Gain | ND |
DAPK1 | p.Y1275Tfs*31 p.E1006A | Frame_Shift_Del Missense | DEL SNP | 0.263 0.252 | 4 | Gain | ND |
DAXX | p.R256H | Missense | SNP | 0.552 | 2 | - | ND |
DBH | - | - | - | - | 4 | Gain | ND |
DCAF1 | p.R294H | Missense | SNP | 0.408 | 2 | - | ND |
DCAF10 | - | - | - | - | 3 | Gain | ND |
DCAF12 | - | - | - | - | 3 | Gain | ND |
DCHS2 | p.S255G | Missense | SNP | 0.360 | 2 | - | ND |
DCLRE1A | p.P708H | Missense | SNP | 0.471 | 2 | - | ND |
DCSTAMP | p.L451R | Missense | SNP | 0.484 | 2 | - | ND |
DCTN1 | p.R32C | Missense | SNP | 0.516 | 2 | - | ND |
DCTN3 | - | - | - | - | 3 | Gain | ND |
DCUN1D4 | p.V19Wfs*18 | Frame_Shift_Del | DEL | 0.294 | 2 | - | ND |
DDIAS | p.Q293H | Missense | SNP | 0.497 | 2 | - | ND |
DDOST | p.R254H | Missense | SNP | 0.479 | 2 | - | ND |
DDR1 | p.L186_D189delinsH | In_Frame_Del | DEL | 0.444 | 2 | - | ND |
DDX20 | p.R722I | Missense | SNP | 0.526 | 2 | - | ND |
DDX27 | p.P778S | Missense | SNP | 0.456 | 2 | - | ND |
DDX31 | p.V581I | Missense | SNP | 0.401 | 4 | Gain | ND |
DDX39A | p.I423T | Missense | SNP | 0.476 | 2 | - | ND |
DDX46 | p.R551C | Missense | SNP | 0.517 | 2 | - | ND |
DDX58 | - | - | - | - | 3 | Gain | ND |
DEC1 | - | - | - | - | 4 | Gain | ND |
DECR2 | - | - | - | - | 1 | Loss | ND |
DENND1A | - | - | - | - | 4 | Gain | ND |
DENND3 | p.V1192A | Missense | SNP | 0.726 | 3 | Gain | ND |
DENND4C | - | - | - | - | 3 | Gain | ND |
DENND6B | p.M98T | Missense | SNP | 0.478 | 2 | - | ND |
DEPTOR | - | - | - | - | 3 | Gain | ND |
DERL1 | - | - | - | - | 3 | Gain | ND |
DGAT1 | - | - | - | - | 3 | Gain | ND |
DHH | p.A356T | Missense | SNP | 0.548 | 2 | - | ND |
DHX30 | p.F982L | Missense | SNP | 0.439 | 2 | - | ND |
DIO2 | p.R53H | Missense | SNP | 0.434 | 2 | - | ND |
DIP2C | p.P1036Qfs*3 | Frame_Shift_Del | DEL | 0.536 | 2 | - | ND |
DIRAS2 | - | - | - | - | 4 | Gain | ND |
DLC1 | p.R349M | Missense | SNP | 0.480 | 2 | - | ND |
DLG4 | p.L422P | Missense | SNP | 0.456 | 2 | - | ND |
DLGAP2 | p.A626V p.A935V | Missense Missense | SNP SNP | 0.511 0.549 | 2 | - | ND |
DMAC1 | - | - | - | - | 3 | Gain | ND |
DMBT1 | - | - | - | - | 1 | Loss | ND |
DMD | p.Q1383E | Missense | SNP | 1.000 | ND | ND | ND |
DMRT1 | - | - | - | - | 3 | Gain | ND |
DMRT2 | - | - | - | - | 3 | Gain | ND |
DMRT3 | - | - | - | - | 3 | Gain | ND |
DMRTA1 | - | - | - | - | 3 | Gain | ND |
DMXL2 | p.L109* | Frame_Shift_Del | DEL | 0.375 | 2 | - | ND |
DNAH11 | p.T4414Qfs*72 | Frame_Shift_Del | DEL | 0.088 | 2 | - | ND |
DNAH12 | p.T1735A | Missense | SNP | 0.613 | 2 | - | ND |
DNAH7 | p.P3413L p.X248_splice | Missense Splice_Site | SNP SNP | 0.423 0.568 | 2 | - | ND |
DNAH9 | p.Y3029C | Missense | SNP | 0.482 | 2 | - | ND |
DNAI1 | - | - | - | - | 3 | Gain | ND |
DNAJA1 | - | - | - | - | 3 | Gain | ND |
DNAJB12 | p.X370_splice | Splice_Site | DEL | 0.350 | 2 | - | ND |
DNAJB5 | p.A347T | Missense | SNP | 0.673 | 3 | Gain | ND |
DNAJB7 | p.K295Rfs*25 | Frame_Shift_Del | DEL | 0.453 | 2 | - | ND |
DNAJC25 | - | - | - | - | 4 | Gain | ND |
DNAJC25-GNG10 | - | - | - | - | 4 | Gain | ND |
DNHD1 | p.F640L | Missense | SNP | 0.495 | 2 | - | ND |
DNLZ | - | - | - | - | 4 | Gain | ND |
DNM1 | - | - | - | - | 4 | Gain | ND |
DNMT3A | p.T834A | Missense | SNP | 0.575 | 2 | - | ND |
DNMT3L | p.A39S | Missense | SNP | 0.410 | 2 | - | ND |
DOC2A | p.A242V | Missense | SNP | 0.511 | 2 | - | ND |
DOCK1 | p.A359T | Missense | SNP | 0.415 | 2 | - | ND |
DOCK10 | p.L1088R p.L594I | Missense Missense | SNP SNP | 0.430 0.571 | 2 | - | ND |
DOCK3 | p.P1852Qfs*45 | Frame_Shift_Del | DEL | 0.476 | 2 | - | ND |
DOCK8 | - | - | - | - | 3 | Gain | ND |
DOK6 | p.M238I | Missense | SNP | 0.537 | 2 | - | ND |
DOLK | - | - | - | - | 4 | Gain | ND |
DOLPP1 | - | - | - | - | 4 | Gain | ND |
DOT1L | p.P537Lfs*122 | Frame_Shift_Del | DEL | 0.354 | 2 | - | ND |
DPF3 | p.R232L | Missense | SNP | 0.484 | 2 | - | ND |
DPH7 | - | - | - | - | 4 | Gain | ND |
DPM2 | - | - | - | - | 4 | Gain | ND |
DPP6 | p.P297Q | Missense | SNP | 0.481 | 2 | - | ND |
DPP7 | - | - | - | - | 4 | Gain | ND |
DPY19L2 | p.X151_splice | Splice_Site | DEL | 0.471 | 2 | - | ND |
DPYSL3 | p.A630Qfs*15 | Frame_Shift_Del | DEL | 0.407 | 2 | - | ND |
DROSHA | p.L612Pfs*8 | Frame_Shift_Ins | INS | 0.309 | 2 | - | ND |
DRP2 | p.L639S | Missense | SNP | 1.000 | ND | ND | ND |
DSCAML1 | p.I433V | Missense | SNP | 0.497 | 2 | - | ND |
DSCC1 | - | - | - | - | 3 | Gain | ND |
DSG2 | p.I845* | Frame_Shift_Del | DEL | 0.438 | 2 | - | ND |
DUSP27 | p.A892V | Missense | SNP | 0.524 | 2 | - | ND |
DYNC1H1 | p.R2179* | Nonsense | SNP | 0.480 | 2 | - | ND |
DYNC1I2 | p.R57Kfs*5 | Frame_Shift_Ins | INS | 0.268 | 2 | - | ND |
DYNC2H1 | p.G2762Wfs*10 | Frame_Shift_Ins | INS | 0.316 | 2 | - | ND |
DYRK1B | p.L592P | Missense | SNP | 0.446 | 2 | - | ND |
DYRK4 | p.R355Dfs*12 | Frame_Shift_Del | DEL | 0.416 | 2 | - | ND |
DYSF | p.L1317P p.R1759C | Missense Missense | SNP SNP | 0.447 0.406 | 2 | - | ND |
EARS2 | p.P85H | Missense | SNP | 0.473 | 2 | - | ND |
EBF4 | p.V270I | Missense | SNP | 0.510 | 2 | - | ND |
ECM2 | - | - | - | - | 4 | Gain | ND |
ECPAS | - | - | - | - | 4 | Gain | ND |
EDA2R | p.P237H | Missense | SNP | 1.000 | ND | ND | ND |
EDF1 | - | - | - | - | 4 | Gain | ND |
EEF1D | - | - | - | - | 3 | Gain | ND |
EFCAB5 | p.K150Nfs*17 | Frame_Shift_Del | DEL | 0.495 | 2 | - | ND |
EFCAB8 | p.S1180G | Missense | SNP | 0.508 | 2 | - | ND |
EFL1 | p.T1069Nfs*3 | Frame_Shift_Ins | INS | 0.340 | 2 | - | ND |
EFR3A | - | - | - | - | 3 | Gain | ND |
EGFL7 | - | - | - | - | 4 | Gain | ND |
EGFR | p.V769A | Missense | SNP | 0.571 | 2 | - | ND |
EHMT1 | - | - | - | - | 4 | Gain | ND |
EIF3H | - | - | - | - | 3 | Gain | ND |
EIF5B | p.K50Sfs*10 | Frame_Shift_Del | DEL | 0.450 | 2 | - | ND |
ELAVL1 | p.T90Pfs*13 | Frame_Shift_Del | DEL | 0.405 | 2 | - | ND |
ELAVL2 | - | - | - | - | 3 | Gain | ND |
ELAVL3 | p.G102S | Missense | SNP | 0.425 | 2 | - | ND |
ELN | p.A707D | Missense | SNP | 0.617 | 2 | - | ND |
ELP1 | - | - | - | - | 4 | Gain | ND |
EML2 | p.Y803* | Nonsense | SNP | 0.473 | 2 | - | ND |
ENDOG | - | - | - | - | 4 | Gain | ND |
ENG | - | - | - | - | 4 | Gain | ND |
ENHO | - | - | - | - | 3 | Gain | ND |
ENO4 | p.K207Rfs*32 | Frame_Shift_Del | DEL | 0.391 | 2 | - | ND |
ENPP2 | - | - | - | - | 3 | Gain | ND |
ENTPD2 | - | - | - | - | 4 | Gain | ND |
ENTPD8 | - | - | - | - | 4 | Gain | ND |
ENTR1 | - | - | - | - | 4 | Gain | ND |
EPB41L4B | - | - | - | - | 4 | Gain | ND |
EPB42 | p.A242V | Missense | SNP | 0.501 | 2 | - | ND |
EPN1 | p.G337Afs*191 | Frame_Shift_Del | DEL | 0.425 | 2 | - | ND |
EPN2 | p.T470Nfs*19 | Frame_Shift_Ins | INS | 0.273 | 2 | - | ND |
EPPK1 | - | - | - | - | 3 | Gain | ND |
EQTN | - | - | - | - | 3 | Gain | ND |
ERCC5 | p.K952Nfs*30 | Frame_Shift_Del | DEL | 0.453 | 2 | - | ND |
ERCC6 | p.R1230H | Missense | SNP | 0.510 | 2 | - | ND |
ERCC6L2 | - | - | - | - | 4 | Gain | ND |
ERMP1 | p.T651Pfs*3 | Frame_Shift_Del | DEL | 0.563 | 3 | Gain | ND |
ERN2 | p.G973V | Missense | SNP | 0.571 | 2 | - | ND |
ERP44 | - | - | - | - | 4 | Gain | ND |
ERVV-2 | p.A415Gfs*11 | Frame_Shift_Ins | INS | 0.331 | 2 | - | ND |
ESPN | p.P209Rfs*18 | Frame_Shift_Del | DEL | 0.545 | 2 | - | ND |
ESR1 | p.R241W | Missense | SNP | 0.435 | 2 | - | ND |
ESR2 | p.Q20R | Missense | SNP | 0.380 | 2 | - | ND |
ETS2 | p.X102_splice | Splice_Site | SNP | 0.358 | 2 | - | ND |
ETV4 | p.D80N | Missense | SNP | 0.389 | 2 | - | ND |
EVA1B | p.T146Kfs*65 | Frame_Shift_Del | DEL | 0.558 | 2 | - | ND |
EVPL | p.G366Afs*75 | Frame_Shift_Del | DEL | 0.447 | 2 | - | ND |
EXD3 | - | - | - | - | 4 | Gain | ND |
EXOSC2 | - | - | - | - | 4 | Gain | ND |
EXOSC3 | - | - | - | - | 3 | Gain | ND |
EXOSC4 | - | - | - | - | 3 | Gain | ND |
EXOSC9 | p.F78Lfs*23 | Frame_Shift_Del | DEL | 0.427 | 2 | - | ND |
EXT1 | - | - | - | - | 3 | Gain | ND |
EYS | p.D762V | Missense | SNP | 0.531 | 2 | - | ND |
F10 | p.R313Q | Missense | SNP | 0.511 | 2 | - | ND |
FAAP24 | p.G27W | Missense | SNP | 0.532 | 2 | - | ND |
FAF1 | p.A552V | Missense | SNP | 0.385 | 2 | - | ND |
FAM102A | - | - | - | - | 4 | Gain | ND |
FAM110A | p.P32Afs*47 | Frame_Shift_Ins | INS | 0.328 | 2 | - | ND |
FAM110D | p.W136Lfs*224 | Frame_Shift_Ins | INS | 0.305 | 2 | - | ND |
FAM120A | - | - | - | - | 4 | Gain | ND |
FAM120AOS | - | - | - | - | 4 | Gain | ND |
FAM122A | - | - | - | - | 4 | Gain | ND |
FAM129A | p.P251S | Missense | SNP | 0.517 | 2 | - | ND |
FAM129B | - | - | - | - | 4 | Gain | ND |
FAM134B | p.E20D | Missense | SNP | 0.370 | ND | ND | ND |
FAM135A | p.N999Ifs*5 | Frame_Shift_Del | DEL | 0.508 | 2 | - | ND |
FAM135B | - | - | - | - | 3 | Gain | ND |
FAM160B2 | p.P728Hfs*99 | Frame_Shift_Del | DEL | 0.413 | 2 | - | ND |
FAM163B | - | - | - | - | 4 | Gain | ND |
FAM166A | - | - | - | - | 4 | Gain | ND |
FAM166B | - | - | - | - | 3 | Gain | ND |
FAM170B | p.M68I | Missense | SNP | 0.117 | 2 | - | ND |
FAM173A | p.P214H | Missense | SNP | 0.477 | 2 | - | ND |
FAM181B | p.E185* | Frame_Shift_Ins | INS | 0.373 | 2 | - | ND |
FAM189A2 | - | - | - | - | 4 | Gain | ND |
FAM193A | p.V231Sfs*81 | Frame_Shift_Del | DEL | 0.478 | 2 | - | ND |
FAM205A | - | - | - | - | 3 | Gain | ND |
FAM205C | - | - | - | - | 3 | Gain | ND |
FAM206A | - | - | - | - | 4 | Gain | ND |
FAM208A | p.R964G | Missense | SNP | 0.144 | 2 | - | ND |
FAM214A | p.N596S p.R146* | Missense Nonsense | SNP SNP | 0.407 0.449 | 2 | - | ND |
FAM214B | - | - | - | - | 3 | Gain | ND |
FAM218A | p.A146V | Missense | SNP | 0.404 | 2 | - | ND |
FAM219A | - | - | - | - | 3 | Gain | ND |
FAM221B | - | - | - | - | 3 | Gain | ND |
FAM234A | - | - | - | - | 1 | Loss | ND |
FAM46B | p.T345I | Missense | SNP | 0.479 | ND | ND | ND |
FAM47B | p.R198H | Missense | SNP | 1.000 | ND | ND | ND |
FAM49B | - | - | - | - | 3 | Gain | ND |
FAM65A | p.L718I | Missense | SNP | 0.522 | ND | ND | ND |
FAM65C | p.L380R | Missense | SNP | 0.443 | ND | ND | ND |
FAM69B | - | - | - | - | 4 | Gain | ND |
FAM78A | - | - | - | - | 4 | Gain | ND |
FAM81B | p.G145V | Missense | SNP | 0.509 | 2 | - | ND |
FAM83A | - | - | - | - | 3 | Gain | ND |
FAM83H | - | - | - | - | 3 | Gain | ND |
FAM84B | - | - | - | - | 3 | Gain | ND |
FAM91A1 | - | - | - | - | 3 | Gain | ND |
FAM95C | - | - | - | - | 3 | Gain | ND |
FANCC | - | - | - | - | 4 | Gain | ND |
FANCG | - | - | - | - | 3 | Gain | ND |
FANCM | p.V1336Lfs*2 | Frame_Shift_Del | DEL | 0.491 | 2 | - | ND |
FARP1 | p.A287V | Missense | SNP | 0.528 | 2 | - | ND |
FAT4 | p.X2482_splice p.D3430Y | Splice_Site Missense | SNP SNP | 0.515 0.447 | 2 | - | ND |
FBN1 | p.S104F | Missense | SNP | 0.542 | 2 | - | ND |
FBN3 | p.G1577Vfs*72 | Frame_Shift_Del | DEL | 0.423 | 2 | - | ND |
FBP1 | - | - | - | - | 4 | Gain | ND |
FBP2 | - | - | - | - | 4 | Gain | ND |
FBXL6 | - | - | - | - | 3 | Gain | ND |
FBXO10 | - | - | - | - | 3 | Gain | ND |
FBXO32 | - | - | - | - | 3 | Gain | ND |
FBXO42 | p.R412I | Missense | SNP | 0.527 | 2 | - | ND |
FBXW12 | p.R254S | Missense | SNP | 0.496 | 2 | - | ND |
FBXW2 | - | - | - | - | 4 | Gain | ND |
FBXW5 | p.S247N | Missense | SNP | 0.498 | 4 | Gain | ND |
FBXW7 | p.R465C | Missense | SNP | 0.506 | 2 | - | ND |
FCN1 | - | - | - | - | 4 | Gain | ND |
FCN2 | - | - | - | - | 4 | Gain | ND |
FER1L6 | p.Q1016H | Missense | SNP | 0.612 | 3 | Gain | ND |
FERMT2 | p.D57Rfs*4 | Frame_Shift_Ins | INS | 0.246 | 2 | - | ND |
FGD3 | - | - | - | - | 4 | Gain | ND |
FGF4 | p.R57C | Missense | SNP | 0.528 | 2 | - | ND |
FGFR1OP | p.S291Vfs*12 | Frame_Shift_Del | DEL | 0.477 | 2 | - | ND |
FHOD3 | p.S336Vfs*171 | Frame_Shift_Del | DEL | 0.435 | 2 | - | ND |
FIBCD1 | - | - | - | - | 4 | Gain | ND |
FKBP15 | p.P1071A | Missense | SNP | 0.522 | 4 | Gain | ND |
FKRP | p.E376K | Missense | SNP | 0.508 | 2 | - | ND |
FKTN | - | - | - | - | 4 | Gain | ND |
FLNA | p.D2634Tfs*71 | Frame_Shift_Del | DEL | 0.993 | ND | ND | ND |
FLNB | p.N1728I | Missense | SNP | 0.481 | 2 | - | ND |
FLVCR2 | p.S62N | Missense | SNP | 0.474 | 2 | - | ND |
FMNL1 | p.M798T | Missense | SNP | 0.471 | 2 | - | ND |
FMR1 | p.K354Nfs*3 | Frame_Shift_Del | DEL | 0.848 | ND | ND | ND |
FN1 | p.V1338I p.R479H | Missense Missense | SNP SNP | 0.397 0.404 | 2 | - | ND |
FNBP1 | - | - | - | - | 4 | Gain | ND |
FNIP1 | p.Q1128Afs*16 | Frame_Shift_Ins | INS | 0.300 | 2 | - | ND |
FOCAD | - | - | - | - | 3 | Gain | ND |
FOXB2 | - | - | - | - | 4 | Gain | ND |
FOXD4L4 | - | - | - | - | 3 | Gain | ND |
FOXD4L5 | - | - | - | - | 3 | Gain | ND |
FOXE1 | - | - | - | - | 4 | Gain | ND |
FOXG1 | p.P74Q | Missense | SNP | 0.391 | 2 | - | ND |
FOXH1 | - | - | - | - | 3 | Gain | ND |
FOXM1 | p.E709Nfs*12 | Frame_Shift_Del | DEL | 0.473 | 2 | - | ND |
FOXRED2 | p.R403* | Nonsense | SNP | 0.557 | 2 | - | ND |
FPGS | - | - | - | - | 4 | Gain | ND |
FRAT2 | p.Q57R | Missense | SNP | 0.581 | 2 | - | ND |
FREM1 | - | - | - | - | 3 | Gain | ND |
FRMD1 | p.R318M | Missense | SNP | 0.444 | 2 | - | ND |
FRMD3 | - | - | - | - | 4 | Gain | ND |
FRMPD1 | - | - | - | - | 3 | Gain | ND |
FRRS1 | p.R393W | Missense | SNP | 0.511 | 2 | - | ND |
FRRS1L | - | - | - | - | 4 | Gain | ND |
FRY | p.Y1426H | Missense | SNP | 0.514 | 2 | - | ND |
FSD1L | - | - | - | - | 4 | Gain | ND |
FSHR | p.N354T | Missense | SNP | 0.566 | 2 | - | ND |
FTO | p.V116I | Missense | SNP | 0.512 | 2 | - | ND |
FUBP3 | - | - | - | - | 4 | Gain | ND |
FUK | p.L851M | Missense | SNP | 0.458 | 2 | - | ND |
FUT7 | - | - | - | - | 4 | Gain | ND |
FUT8 | p.R473* | Nonsense | SNP | 0.538 | 2 | - | ND |
FXN | - | - | - | - | 4 | Gain | ND |
FXR2 | p.P540Qfs*32 p.D9Mfs*22 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.427 0.441 | 2 | - | ND |
FZR1 | p.N335S | Missense | SNP | 0.559 | 2 | - | ND |
GAB1 | p.T221Rfs*? | Frame_Shift_Del | DEL | 0.417 | 2 | - | ND |
GAB3 | p.A99V | Missense | SNP | 1.000 | ND | ND | ND |
GAB4 | p.D77A | Missense | SNP | 0.491 | 2 | - | ND |
GABBR1 | p.A21T | Missense | SNP | 0.496 | 2 | - | ND |
GABBR2 | - | - | - | - | 4 | Gain | ND |
GABRB2 | p.S500Pfs*12 | Frame_Shift_Del | DEL | 0.468 | 2 | - | ND |
GABRG2 | p.M23Nfs*17 | Frame_Shift_Ins | INS | 0.297 | 2 | - | ND |
GADD45G | - | - | - | - | 4 | Gain | ND |
GALNT10 | p.Y450C | Missense | SNP | 0.571 | 2 | - | ND |
GALNT12 | p.G215R | Missense | SNP | 0.473 | 4 | Gain | ND |
GALT | - | - | - | - | 3 | Gain | ND |
GAMT | p.A19T | Missense | SNP | 0.612 | 2 | - | ND |
GAPVD1 | - | - | - | - | 4 | Gain | ND |
GARNL3 | - | - | - | - | 4 | Gain | ND |
GAS1 | - | - | - | - | 4 | Gain | ND |
GAS2L3 | p.R262C | Missense | SNP | 0.538 | 2 | - | ND |
GAS6 | p.R151Pfs*27 | Frame_Shift_Ins | INS | 0.290 | 2 | - | ND |
GAS7 | p.M1? p.P112H | Frame_Shift_Del Missense | DEL SNP | 0.480 0.556 | 2 | - | ND |
GBA2 | - | - | - | - | 3 | Gain | ND |
GBGT1 | - | - | - | - | 4 | Gain | ND |
GCGR | p.G196E | Missense | SNP | 0.449 | 2 | - | ND |
GCM2 | p.P269T | Missense | SNP | 0.492 | 2 | - | ND |
GCNT1 | - | - | - | - | 4 | Gain | ND |
GCNT3 | p.Y135H | Missense | SNP | 0.488 | 2 | - | ND |
GCNT7 | p.D323Mfs*73 | Frame_Shift_Del | DEL | 0.434 | 2 | - | ND |
GDA | - | - | - | - | 4 | Gain | ND |
GDF7 | p.A418T | Missense | SNP | 0.445 | 2 | - | ND |
GDPD5 | p.M534V | Missense | SNP | 0.455 | 2 | - | ND |
GEMIN5 | p.F304Lfs*58 | Frame_Shift_Del | DEL | 0.458 | 2 | - | ND |
GFI1B | - | - | - | - | 4 | Gain | ND |
GFPT2 | p.V463I | Missense | SNP | 0.596 | 2 | - | ND |
GHITM | p.T166I | Missense | SNP | 0.517 | 2 | - | ND |
GIGYF1 | p.L111Pfs*20 | Frame_Shift_Ins | INS | 0.286 | 2 | - | ND |
GK2 | p.I130Ffs*23 | Frame_Shift_Del | DEL | 0.382 | 2 | - | ND |
GKAP1 | - | - | - | - | 4 | Gain | ND |
GLB1 | p.N669Tfs*17 | Frame_Shift_Del | DEL | 0.399 | 2 | - | ND |
GLDC | - | - | - | - | 3 | Gain | ND |
GLE1 | - | - | - | - | 4 | Gain | ND |
GLI1 | p.G274Afs*6 | Frame_Shift_Del | DEL | 0.460 | 2 | - | ND |
GLI2 | p.V1361Wfs*8 p.E617G | Frame_Shift_Del Missense | DEL SNP | 0.444 0.476 | 2 | - | ND |
GLI4 | - | - | - | - | 3 | Gain | ND |
GLIPR2 | p.P151S | Missense | SNP | 0.673 | 3 | Gain | ND |
GLIS1 | p.T73Pfs*29 | Frame_Shift_Del | DEL | 0.496 | 2 | - | ND |
GLIS3 | - | - | - | - | 3 | Gain | ND |
GLT6D1 | - | - | - | - | 4 | Gain | ND |
GML | - | - | - | - | 3 | Gain | ND |
GNA14 | - | - | - | - | 4 | Gain | ND |
GNAQ | - | - | - | - | 4 | Gain | ND |
GNAS | p.Q870H | Missense | SNP | 0.471 | 2 | - | ND |
GNAZ | p.Q205Rfs*29 | Frame_Shift_Del | DEL | 0.407 | 2 | - | ND |
GNB1L | p.X43_splice | Splice_Site | SNP | 0.333 | 2 | - | ND |
GNE | - | - | - | - | 3 | Gain | ND |
GNG10 | - | - | - | - | 4 | Gain | ND |
GNRHR | p.S327Lfs*4 | Frame_Shift_Del | DEL | 0.528 | 2 | - | ND |
GOLGA1 | - | - | - | - | 4 | Gain | ND |
GOLGA2 | - | - | - | - | 4 | Gain | ND |
GOLM1 | - | - | - | - | 4 | Gain | ND |
GOT1 | p.A230T | Missense | SNP | 0.531 | 2 | - | ND |
GOT2 | p.G173S | Missense | SNP | 0.515 | 2 | - | ND |
GP1BA | p.P450L | Missense | SNP | 0.537 | 2 | - | ND |
GPAA1 | - | - | - | - | 3 | Gain | ND |
GPATCH4 | p.R340Q | Missense | SNP | 0.547 | 2 | - | ND |
GPATCH8 | p.A32V | Missense | SNP | 0.390 | 2 | - | ND |
GPIHBP1 | - | - | - | - | 3 | Gain | ND |
GPR107 | - | - | - | - | 4 | Gain | ND |
GPR20 | - | - | - | - | 3 | Gain | ND |
GPR21 | - | - | - | - | 4 | Gain | ND |
GPR6 | p.A106V | Missense | SNP | 0.532 | 2 | - | ND |
GPSM1 | - | - | - | - | 4 | Gain | ND |
GPT | - | - | - | - | 3 | Gain | ND |
GRAMD1C | p.K43Nfs*42 | Frame_Shift_Del | DEL | 0.511 | 2 | - | ND |
GRB14 | p.K297Nfs*23 | Frame_Shift_Del | DEL | 0.464 | 2 | - | ND |
GRHPR | - | - | - | - | 3 | Gain | ND |
GRIA4 | p.L784P | Missense | SNP | 0.441 | 2 | - | ND |
GRIN1 | - | - | - | - | 4 | Gain | ND |
GRIN2B | p.G1370R | Missense | SNP | 0.496 | 2 | - | ND |
GRIN3A | - | - | - | - | 4 | Gain | ND |
GRINA | - | - | - | - | 3 | Gain | ND |
GRK2 | p.R378Gfs*29 | Frame_Shift_Del | DEL | 0.402 | 2 | - | ND |
GRK4 | p.R222Efs*2 | Frame_Shift_Del | DEL | 0.447 | 2 | - | ND |
GRM1 | p.K891E | Missense | SNP | 0.459 | 2 | - | ND |
GRM3 | p.Q855* | Nonsense | SNP | 0.435 | 2 | - | ND |
GSC | p.C18Y | Missense | SNP | 0.496 | 2 | - | ND |
GSDMC | - | - | - | - | 3 | Gain | ND |
GSDMD | - | - | - | - | 3 | Gain | ND |
GSN | - | - | - | - | 4 | Gain | ND |
GSTM1 | p.C115R | Missense | SNP | 1.000 | 2 | - | ND |
GTF2IRD1 | p.G951R | Missense | SNP | 0.507 | 2 | - | ND |
GTF3C4 | - | - | - | - | 4 | Gain | ND |
GTF3C5 | - | - | - | - | 4 | Gain | ND |
HABP4 | - | - | - | - | 4 | Gain | ND |
HACD3 | p.E136G | Missense | SNP | 0.450 | 2 | - | ND |
HACD4 | - | - | - | - | 3 | Gain | ND |
HAND2 | p.A87V | Missense | SNP | 0.545 | 2 | - | ND |
HAPLN4 | p.T236Pfs*43 | Frame_Shift_Del | DEL | 0.483 | 2 | - | ND |
HAS1 | p.V251M | Missense | SNP | 0.501 | 2 | - | ND |
HAS2 | - | - | - | - | 3 | Gain | ND |
HAUS6 | - | - | - | - | 3 | Gain | ND |
HCAR2 | p.Y295C | Missense | SNP | 0.322 | 2 | - | ND |
HCRTR2 | p.C12Lfs*12 | Frame_Shift_Ins | INS | 0.279 | 2 | - | ND |
HDAC4 | p.Q499R | Missense | SNP | 0.480 | 2 | - | ND |
HDHD3 | - | - | - | - | 4 | Gain | ND |
HEATR6 | p.V438Ffs*24 | Frame_Shift_Del | DEL | 0.400 | 2 | - | ND |
HECTD4 | p.A3240Rfs*26 p.N3556S | Frame_Shift_Del Missense | DEL SNP | 0.535 0.469 | 2 | - | ND |
HECW1 | p.R992W | Missense | SNP | 0.416 | 2 | - | ND |
HECW2 | p.K383Sfs*12 | Frame_Shift_Del | DEL | 0.408 | 2 | - | ND |
HELZ2 | p.K2462N | Missense | SNP | 0.495 | 2 | - | ND |
HEMGN | - | - | - | - | 4 | Gain | ND |
HERC1 | p.K3605Nfs*17 | Frame_Shift_Del | DEL | 0.502 | 2 | - | ND |
HERC2 | p.X3714_splice | Splice_Site | SNP | 0.529 | 2 | - | ND |
HFE2 | p.C321Vfs*21 p.R332H | Frame_Shift_Ins Missense | INS SNP | 0.312 0.445 | ND | ND | ND |
HGH1 | - | - | - | - | 3 | Gain | ND |
HGS | p.E236Sfs*3 | Frame_Shift_Del | DEL | 0.488 | 2 | - | ND |
HHLA1 | - | - | - | - | 3 | Gain | ND |
HINT2 | - | - | - | - | 3 | Gain | ND |
HIPK3 | p.X633_splice | Splice_Site | SNP | 0.495 | 2 | - | ND |
HIST1H2BO | p.A8Lfs*15 | Frame_Shift_Ins | INS | 0.243 | 2 | - | ND |
HIST1H3I | p.R18H | Missense | SNP | 0.459 | 2 | - | ND |
HIVEP2 | p.K643N | Missense | SNP | 0.460 | 2 | - | ND |
HLA-B | p.L154P | Missense | SNP | 0.226 | 2 | - | ND |
HLA-C | p.L154P | Missense | SNP | 0.229 | 2 | - | ND |
HMCN2 | p.L3008P | Missense | SNP | 0.242 | 4 | Gain | ND |
HMGCL | p.R10L | Missense | SNP | 0.525 | 2 | - | ND |
HMX3 | p.P23Hfs*100 | Frame_Shift_Del | DEL | 0.431 | 2 | - | ND |
HNF1A | p.P379Lfs*5 | Frame_Shift_Del | DEL | 0.416 | 2 | - | ND |
HNRNPAB | p.D85Ifs*2 | Frame_Shift_Del | DEL | 0.538 | 2 | - | ND |
HNRNPCL1 | p.A35V | Missense | SNP | 0.250 | 2 | - | ND |
HNRNPK | - | - | - | - | 4 | Gain | ND |
HNRNPM | p.G413Vfs*115 | Frame_Shift_Del | DEL | 0.454 | 2 | - | ND |
HOMEZ | p.A301V | Missense | SNP | 0.514 | 2 | - | ND |
HOXA11 | p.I299Lfs*30 | Frame_Shift_Del | DEL | 0.466 | 2 | - | ND |
HOXA2 | p.M98T | Missense | SNP | 0.432 | 2 | - | ND |
HOXD11 | p.A29T | Missense | SNP | 0.438 | 2 | - | ND |
HOXD8 | p.Q202* | Nonsense | SNP | 0.466 | 2 | - | ND |
HP1BP3 | p.M39V | Missense | SNP | 0.431 | 2 | - | ND |
HPR | p.R60H | Missense | SNP | 0.516 | 2 | - | ND |
HPS1 | p.M325Wfs*6 | Frame_Shift_Del | DEL | 0.402 | 2 | - | ND |
HRCT1 | - | - | - | - | 3 | Gain | ND |
HSD17B1 | p.P57Q | Missense | SNP | 0.536 | 2 | - | ND |
HSD17B3 | - | - | - | - | 4 | Gain | ND |
HSDL2 | - | - | - | - | 4 | Gain | ND |
HSF1 | p.K157R p.S412R | Missense Missense | SNP SNP | 0.362 0.361 | 3 | Gain | ND |
HSPA5 | - | - | - | - | 4 | Gain | ND |
HSPG2 | p.W938R | Missense | SNP | 0.483 | 2 | - | ND |
HTR1B | p.Y157C | Missense | SNP | 0.478 | 2 | - | ND |
HTR7 | p.T89K | Missense | SNP | 0.533 | 2 | - | ND |
HTRA1 | - | - | - | - | 1 | Loss | ND |
HTT | p.R1647H | Missense | SNP | 0.554 | 2 | - | ND |
HYAL1 | p.R191W | Missense | SNP | 0.552 | 2 | - | ND |
IARS | - | - | - | - | 4 | Gain | ND |
IDE | p.W355C | Missense | SNP | 0.389 | 2 | - | ND |
IDNK | - | - | - | - | 4 | Gain | ND |
IER5L | - | - | - | - | 4 | Gain | ND |
IFFO1 | p.Q277H | Missense | SNP | 0.441 | 2 | - | ND |
IFI27L2 | p.G52Vfs*? | Frame_Shift_Del | DEL | 0.481 | 2 | - | ND |
IFIT3 | p.Y419H | Missense | SNP | 0.472 | 2 | - | ND |
IFITM10 | p.L225Sfs*32 | Frame_Shift_Del | DEL | 0.368 | 2 | - | ND |
IFNA1 | - | - | - | - | 3 | Gain | ND |
IFNA10 | - | - | - | - | 3 | Gain | ND |
IFNA13 | - | - | - | - | 3 | Gain | ND |
IFNA14 | - | - | - | - | 3 | Gain | ND |
IFNA16 | - | - | - | - | 3 | Gain | ND |
IFNA17 | - | - | - | - | 3 | Gain | ND |
IFNA2 | - | - | - | - | 3 | Gain | ND |
IFNA21 | - | - | - | - | 3 | Gain | ND |
IFNA4 | - | - | - | - | 3 | Gain | ND |
IFNA5 | - | - | - | - | 3 | Gain | ND |
IFNA6 | - | - | - | - | 3 | Gain | ND |
IFNA7 | - | - | - | - | 3 | Gain | ND |
IFNA8 | - | - | - | - | 3 | Gain | ND |
IFNB1 | - | - | - | - | 3 | Gain | ND |
IFNE | - | - | - | - | 3 | Gain | ND |
IFNK | - | - | - | - | 3 | Gain | ND |
IFNW1 | - | - | - | - | 3 | Gain | ND |
IFT74 | - | - | - | - | 3 | Gain | ND |
IFT80 | p.*778Lext*12 | Nonstop | SNP | 0.486 | 2 | - | ND |
IGFBPL1 | - | - | - | - | 3 | Gain | ND |
IGLON5 | p.I220T | Missense | SNP | 0.482 | 2 | - | ND |
IGSF22 | p.G835D | Missense | SNP | 0.479 | 2 | - | ND |
IGSF8 | p.G161Rfs*18 p.V79A | Frame_Shift_Ins Missense | INS SNP | 0.270 0.459 | 2 | - | ND |
IKBKE | p.R525Q | Missense | SNP | 0.563 | 2 | - | ND |
IL11RA | - | - | - | - | 3 | Gain | ND |
IL17RE | p.W327R | Missense | SNP | 0.521 | 2 | - | ND |
IL33 | - | - | - | - | 3 | Gain | ND |
ILK | p.L71Cfs*26 p.G408D | Frame_Shift_Del Missense | DEL SNP | 0.114 0.504 | 2 | - | ND |
INIP | - | - | - | - | 4 | Gain | ND |
INPP5A | - | - | - | - | 1 | Loss | ND |
INPP5E | - | - | - | - | 4 | Gain | ND |
INSL4 | - | - | - | - | 3 | Gain | ND |
INSL6 | - | - | - | - | 3 | Gain | ND |
INSM2 | p.R127H | Missense | SNP | 0.479 | 2 | - | ND |
INSR | p.V173M | Missense | SNP | 0.394 | 2 | - | ND |
INTS1 | p.E130K | Missense | SNP | 0.489 | 2 | - | ND |
INTS12 | p.M168I | Missense | SNP | 0.485 | 2 | - | ND |
INVS | - | - | - | - | 4 | Gain | ND |
IPO4 | p.A36Pfs*10 | Frame_Shift_Del | DEL | 0.502 | 2 | - | ND |
IPO5 | p.V797I | Missense | SNP | 0.458 | 2 | - | ND |
IPO7 | p.D904G | Missense | SNP | 0.500 | 2 | - | ND |
IPO8 | p.V198L | Missense | SNP | 0.431 | 2 | - | ND |
IPPK | - | - | - | - | 4 | Gain | ND |
IQANK1 | - | - | - | - | 3 | Gain | ND |
IQCA1 | p.E314K | Missense | SNP | 0.558 | 2 | - | ND |
IRF8 | p.P175Q | Missense | SNP | 0.396 | 2 | - | ND |
IRGQ | p.R330C | Missense | SNP | 0.487 | 2 | - | ND |
IRS1 | p.P368Rfs*95 | Frame_Shift_Del | DEL | 0.519 | 2 | - | ND |
IRX3 | p.E236Gfs*12 | Frame_Shift_Ins | INS | 0.260 | 2 | - | ND |
ISCA1 | - | - | - | - | 4 | Gain | ND |
ISG20L2 | p.L289Sfs*15 | Frame_Shift_Del | DEL | 0.390 | 2 | - | ND |
ISLR2 | p.A350T | Missense | SNP | 0.488 | 2 | - | ND |
ITPR2 | p.W2229Sfs*15 p.R1837Gfs*7 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.312 0.361 | 2 | - | ND |
IWS1 | p.A320V | Missense | SNP | 0.475 | 2 | - | ND |
IZUMO2 | p.G20D | Missense | SNP | 0.436 | 2 | - | ND |
IZUMO3 | - | - | - | - | 3 | Gain | ND |
JADE3 | p.R753M | Missense | SNP | 1.000 | ND | ND | ND |
JAK2 | - | - | - | - | 3 | Gain | ND |
JMJD1C | p.V117I | Missense | SNP | 0.557 | 2 | - | ND |
JRK | - | - | - | - | 3 | Gain | ND |
JUP | p.N5D | Missense | SNP | 0.522 | 2 | - | ND |
KANK1 | p.E26V | Missense | SNP | 0.646 | 3 | Gain | ND |
KANK2 | p.P430Rfs*5 | Frame_Shift_Del | DEL | 0.477 | 2 | - | ND |
KANK4 | p.S627A | Missense | SNP | 0.452 | 2 | - | ND |
KANSL2 | p.G458E | Missense | SNP | 0.331 | 2 | - | ND |
KAT5 | p.R253* | Nonsense | SNP | 0.490 | 2 | - | ND |
KAT6B | p.N1883Tfs*2 | Frame_Shift_Del | DEL | 0.494 | 2 | - | ND |
KCNH1 | p.N93Y | Missense | SNP | 0.644 | 2 | - | ND |
KCNH3 | p.G1050Afs*39 | Frame_Shift_Del | DEL | 0.468 | 2 | - | ND |
KCNH4 | p.R800Gfs*28 | Frame_Shift_Del | DEL | 0.525 | 2 | - | ND |
KCNH7 | p.N719Kfs*2 | Frame_Shift_Ins | INS | 0.312 | 2 | - | ND |
KCNH8 | p.K209Sfs*29 | Frame_Shift_Del | DEL | 0.333 | 2 | - | ND |
KCNK9 | - | - | - | - | 3 | Gain | ND |
KCNN3 | p.P217Rfs*67 | Frame_Shift_Del | DEL | 0.405 | 2 | - | ND |
KCNQ3 | p.K533Nfs*6 | Frame_Shift_Del | DEL | 0.551 | 3 | Gain | ND |
KCNT1 | - | - | - | - | 4 | Gain | ND |
KCNV2 | - | - | - | - | 3 | Gain | ND |
KDM4C | - | - | - | - | 3 | Gain | ND |
KHDRBS3 | - | - | - | - | 3 | Gain | ND |
KIAA0408 | . | Splice_Site | SNP | 0.537 | 2 | - | ND |
KIAA0556 | p.S14P | Missense | SNP | 0.416 | 2 | - | ND |
KIAA0753 | p.H116Tfs*21 | Frame_Shift_Ins | INS | 0.321 | 2 | - | ND |
KIAA1024 | p.S702Afs*11 | Frame_Shift_Del | DEL | 0.923 | 2 | - | ND |
KIAA1109 | p.V4405M | Missense | SNP | 0.445 | 2 | - | ND |
KIAA1462 | p.D507Mfs*23 | Frame_Shift_Del | DEL | 0.449 | ND | ND | ND |
KIAA1549L | p.K830E | Missense | SNP | 0.538 | 2 | - | ND |
KIAA1683 | p.P498S | Missense | SNP | 0.564 | ND | ND | ND |
KIAA1755 | p.A633T | Missense | SNP | 0.436 | 2 | - | ND |
KIAA1958 | p.K423R | Missense | SNP | 0.294 | 4 | Gain | ND |
KIAA2012 | p.K841Nfs*2 | Frame_Shift_Del | DEL | 0.431 | 2 | - | ND |
KIAA2026 | - | - | - | - | 3 | Gain | ND |
KIDINS220 | p.R596M | Missense | SNP | 0.584 | 2 | - | ND |
KIF12 | - | - | - | - | 4 | Gain | ND |
KIF17 | p.R232W | Missense | SNP | 0.417 | 2 | - | ND |
KIF1A | p.R1302H | Missense | SNP | 0.446 | 2 | - | ND |
KIF1C | p.Q542R | Missense | SNP | 0.468 | 2 | - | ND |
KIF21A | p.I1235Ffs*7 | Frame_Shift_Del | DEL | 0.366 | 2 | - | ND |
KIF21B | p.G1202Afs*16 | Frame_Shift_Del | DEL | 0.423 | 2 | - | ND |
KIF24 | - | - | - | - | 3 | Gain | ND |
KIF26A | p.G417A p.K916E | Missense Missense | SNP SNP | 0.590 0.486 | 2 | - | ND |
KIF26B | p.A1835Pfs*41 | Frame_Shift_Del | DEL | 0.492 | 2 | - | ND |
KIF27 | - | - | - | - | 4 | Gain | ND |
KIF4B | p.A717V | Missense | SNP | 0.425 | 2 | - | ND |
KIFC2 | - | - | - | - | 3 | Gain | ND |
KIR2DL4 | p.D310Mfs*4 | Frame_Shift_Del | DEL | 0.429 | 2 | - | ND |
KLF3 | p.K106Nfs*21 | Frame_Shift_Del | DEL | 0.485 | 2 | - | ND |
KLF4 | - | - | - | - | 4 | Gain | ND |
KLF9 | - | - | - | - | 4 | Gain | ND |
KLHDC7B | p.P586Lfs*83 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
KLHL38 | - | - | - | - | 3 | Gain | ND |
KLHL4 | p.L384I | Missense | SNP | 1.000 | ND | ND | ND |
KLHL9 | - | - | - | - | 3 | Gain | ND |
KLK9 | p.A150Pfs*? | Frame_Shift_Del | DEL | 0.493 | 2 | - | ND |
KMT2A | p.P58Rfs*92 | Frame_Shift_Del | DEL | 0.443 | 2 | - | ND |
KMT2B | p.L2359R | Missense | SNP | 0.414 | 2 | - | ND |
KMT2D | p.G4479E p.X134_splice | Missense Splice_Site | SNP SNP | 0.547 0.504 | 2 | - | ND |
KNTC1 | p.K1646Nfs*2 | Frame_Shift_Del | DEL | 0.389 | 2 | - | ND |
KPNA1 | p.L451P | Missense | SNP | 0.466 | 2 | - | ND |
KRT12 | p.G291Efs*75 | Frame_Shift_Del | DEL | 0.532 | 2 | - | ND |
KRT15 | p.S34Vfs*31 | Frame_Shift_Del | DEL | 0.403 | 2 | - | ND |
KRT18 | p.G41Afs*27 | Frame_Shift_Del | DEL | 0.487 | 2 | - | ND |
KRT32 | p.R203H | Missense | SNP | 0.451 | 2 | - | ND |
KRT71 | p.R46Q | Missense | SNP | 0.539 | 2 | - | ND |
KRTAP10-1 | p.V269G | Missense | SNP | 0.533 | 2 | - | ND |
KRTAP13-1 | p.S51P | Missense | SNP | 0.455 | 2 | - | ND |
KRTAP24-1 | p.G66S | Missense | SNP | 0.524 | 2 | - | ND |
KSR2 | p.V242M | Missense | SNP | 0.418 | 2 | - | ND |
KYAT1 | - | - | - | - | 4 | Gain | ND |
L3MBTL1 | p.S263N | Missense | SNP | 0.429 | 2 | - | ND |
LAMA1 | p.K907E p.A15T | Missense Missense | SNP SNP | 0.562 0.499 | 2 | - | ND |
LAMA3 | p.T2580Hfs*68 p.Y2850C p.T3028A | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.465 0.542 0.497 | 2 | - | ND |
LAMC3 | p.F794Lfs*90 | Frame_Shift_Del | DEL | 0.203 | 4 | Gain | ND |
LARGE1 | p.T319I | Missense | SNP | 0.567 | 2 | - | ND |
LARGE2 | p.A225V | Missense | SNP | 0.527 | 2 | - | ND |
LARP4B | p.T163Hfs*47 | Frame_Shift_Del | DEL | 0.439 | 2 | - | ND |
LARP7 | . | Frame_Shift_Del | DEL | 0.830 | 2 | - | ND |
LCE1C | p.C44Y | Missense | SNP | 0.528 | 2 | - | ND |
LCN1 | - | - | - | - | 4 | Gain | ND |
LCN10 | - | - | - | - | 4 | Gain | ND |
LCN12 | - | - | - | - | 4 | Gain | ND |
LCN15 | - | - | - | - | 4 | Gain | ND |
LCN2 | - | - | - | - | 4 | Gain | ND |
LCN6 | - | - | - | - | 4 | Gain | ND |
LCN8 | - | - | - | - | 4 | Gain | ND |
LCN9 | - | - | - | - | 4 | Gain | ND |
LCNL1 | - | - | - | - | 4 | Gain | ND |
LDB1 | p.P24Rfs*81 | Frame_Shift_Del | DEL | 0.469 | 2 | - | ND |
LDLRAD1 | p.G8V | Missense | SNP | 0.488 | 2 | - | ND |
LDLRAD2 | p.A108V | Missense | SNP | 0.454 | 2 | - | ND |
LGALS4 | p.K97Rfs*10 | Frame_Shift_Del | DEL | 0.447 | 2 | - | ND |
LGI3 | p.S396F | Missense | SNP | 0.527 | 2 | - | ND |
LGI4 | p.T509A | Missense | SNP | 0.567 | 2 | - | ND |
LGR6 | p.R510Gfs*75 | Frame_Shift_Del | DEL | 0.382 | 2 | - | ND |
LHX2 | p.P364H | Missense | SNP | 0.485 | 4 | Gain | ND |
LHX3 | - | - | - | - | 4 | Gain | ND |
LHX6 | - | - | - | - | 4 | Gain | ND |
LIMK1 | p.E369* | Nonsense | SNP | 0.470 | 2 | - | ND |
LINGO1 | p.V12Rfs*167 | Frame_Shift_Ins | INS | 0.360 | 2 | - | ND |
LINGO2 | - | - | - | - | 3 | Gain | ND |
LIPE | p.R1075Dfs*101 | Frame_Shift_Del | DEL | 0.515 | 2 | - | ND |
LMAN1 | p.E305Rfs*22 | Frame_Shift_Del | DEL | 0.513 | 2 | - | ND |
LMNB2 | p.S544Rfs*31 | Frame_Shift_Del | DEL | 0.445 | 2 | - | ND |
LMNTD2 | p.L603Pfs*? | Frame_Shift_Ins | INS | 0.301 | 2 | - | ND |
LMTK3 | p.E855Sfs*32 | Frame_Shift_Del | DEL | 0.114 | 2 | - | ND |
LMX1B | - | - | - | - | 4 | Gain | ND |
LNP1 | p.R117W | Missense | SNP | 0.545 | 2 | - | ND |
LNPEP | p.N145Tfs*6 | Frame_Shift_Del | DEL | 0.509 | 2 | - | ND |
LNX2 | p.D457G p.V103D | Missense Missense | SNP SNP | 0.551 0.405 | 2 | - | ND |
LONP2 | p.A216V | Missense | SNP | 0.527 | 2 | - | ND |
LPA | p.A1544V | Missense | SNP | 0.500 | 2 | - | ND |
LPAR1 | - | - | - | - | 4 | Gain | ND |
LPAR2 | p.E285K | Missense | SNP | 0.465 | 2 | - | ND |
LPAR3 | p.Y14Ifs*18 | Frame_Shift_Del | DEL | 0.397 | 2 | - | ND |
LPAR5 | p.L26M | Missense | SNP | 0.390 | 2 | - | ND |
LPCAT4 | p.A160V | Missense | SNP | 0.243 | 2 | - | ND |
LRBA | p.I2118Sfs*46 p.T2011Qfs*11 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.562 0.445 | 2 | - | ND |
LRIG1 | p.L73P | Missense | SNP | 0.568 | 2 | - | ND |
LRIG3 | p.V41Sfs*22 | Frame_Shift_Del | DEL | 0.478 | 2 | - | ND |
LRP4 | p.L1836Pfs*24 | Frame_Shift_Ins | INS | 0.301 | 2 | - | ND |
LRRC14 | - | - | - | - | 3 | Gain | ND |
LRRC16A | p.K265Nfs*6 | Frame_Shift_Del | DEL | 0.500 | ND | ND | ND |
LRRC19 | - | - | - | - | 3 | Gain | ND |
LRRC24 | - | - | - | - | 3 | Gain | ND |
LRRC26 | - | - | - | - | 4 | Gain | ND |
LRRC29 | p.A147T | Missense | SNP | 0.520 | 2 | - | ND |
LRRC41 | p.S134Pfs*116 | Frame_Shift_Del | DEL | 0.505 | 2 | - | ND |
LRRC55 | p.G126D | Missense | SNP | 0.520 | 2 | - | ND |
LRRC56 | p.I273Sfs*137 | Frame_Shift_Del | DEL | 0.445 | 2 | - | ND |
LRRC6 | - | - | - | - | 3 | Gain | ND |
LRRC8A | - | - | - | - | 4 | Gain | ND |
LRRC8D | p.I390M | Missense | SNP | 0.531 | 2 | - | ND |
LRRC9 | p.N647Tfs*11 | Frame_Shift_Del | DEL | 0.462 | 2 | - | ND |
LRSAM1 | - | - | - | - | 4 | Gain | ND |
LTBP4 | p.A1409Pfs*21 | Frame_Shift_Ins | INS | 0.258 | 2 | - | ND |
LTF | p.A359S | Missense | SNP | 0.518 | 2 | - | ND |
LTN1 | p.V747Sfs*5 | Frame_Shift_Del | DEL | 0.983 | 2 | - | ND |
LURAP1L | - | - | - | - | 3 | Gain | ND |
LUZP1 | p.M224* | Frame_Shift_Del | DEL | 0.397 | 2 | - | ND |
LY6D | - | - | - | - | 3 | Gain | ND |
LY6E | - | - | - | - | 3 | Gain | ND |
LY6H | - | - | - | - | 3 | Gain | ND |
LY6K | - | - | - | - | 3 | Gain | ND |
LY6L | - | - | - | - | 3 | Gain | ND |
LYAR | p.P239Lfs*49 | Frame_Shift_Del | DEL | 0.443 | 2 | - | ND |
LYNX1 | - | - | - | - | 3 | Gain | ND |
LYNX1-SLURP2 | - | - | - | - | 3 | Gain | ND |
LYPD2 | - | - | - | - | 3 | Gain | ND |
LYSMD2 | p.H214P | Missense | SNP | 0.443 | 2 | - | ND |
LZTR1 | p.H287Q | Missense | SNP | 0.570 | 2 | - | ND |
MAF1 | - | - | - | - | 3 | Gain | ND |
MAFA | - | - | - | - | 3 | Gain | ND |
MAFB | p.S318F | Missense | SNP | 0.472 | 2 | - | ND |
MAL2 | - | - | - | - | 3 | Gain | ND |
MAMDC2 | - | - | - | - | 4 | Gain | ND |
MAMDC4 | p.A856V | Missense | SNP | 0.254 | 4 | Gain | ND |
MAN1B1 | - | - | - | - | 4 | Gain | ND |
MAP2K7 | p.X58_splice p.X127_splice | Splice_Site Splice_Site | SNP SNP | 0.533 0.480 | 2 | - | ND |
MAP3K10 | p.R221W | Missense | SNP | 0.449 | 2 | - | ND |
MAP3K4 | p.R94H | Missense | SNP | 0.488 | 2 | - | ND |
MAP3K8 | p.A191T | Missense | SNP | 0.209 | 2 | - | ND |
MAP7D3 | p.Q308Rfs*2 | Frame_Shift_Del | DEL | 0.939 | ND | ND | ND |
MAPK15 | - | - | - | - | 3 | Gain | ND |
MAPKAP1 | - | - | - | - | 4 | Gain | ND |
MAPRE3 | p.C182Lfs*16 | Frame_Shift_Ins | INS | 0.259 | 2 | - | ND |
MARCH4 | p.A128T p.C14W | Missense Missense | SNP SNP | 0.435 0.455 | 2 | - | ND |
MASP1 | p.S529L | Missense | SNP | 0.495 | 2 | - | ND |
MAST2 | p.F726Lfs*12 | Frame_Shift_Del | DEL | 0.458 | 2 | - | ND |
MAST3 | p.R1178G | Missense | SNP | 0.365 | 2 | - | ND |
MAST4 | p.S1880Afs*59 | Frame_Shift_Del | DEL | 0.477 | 2 | - | ND |
MBNL1 | p.A52T | Missense | SNP | 0.560 | 2 | - | ND |
MCIDAS | p.P169L | Missense | SNP | 0.511 | 2 | - | ND |
MCM2 | p.G43S | Missense | SNP | 0.559 | 2 | - | ND |
MCM4 | p.X392_splice | Splice_Site | SNP | 0.450 | 2 | - | ND |
MCM5 | p.P383H | Missense | SNP | 0.546 | 2 | - | ND |
MCTP1 | p.X871_splice | Splice_Site | SNP | 0.500 | 2 | - | ND |
MDM4 | p.X26_splice | Splice_Site | DEL | 0.365 | 2 | - | ND |
MED14 | p.D619N | Missense | SNP | 1.000 | ND | ND | ND |
MED22 | - | - | - | - | 4 | Gain | ND |
MED27 | - | - | - | - | 4 | Gain | ND |
MED30 | - | - | - | - | 3 | Gain | ND |
MED8 | p.N295Mfs*62 | Frame_Shift_Del | DEL | 0.470 | 2 | - | ND |
MEGF8 | p.G1857R | Missense | SNP | 0.510 | 2 | - | ND |
MEGF9 | - | - | - | - | 4 | Gain | ND |
MELK | - | - | - | - | 3 | Gain | ND |
MEPCE | p.P127Lfs*29 | Frame_Shift_Del | DEL | 0.425 | 2 | - | ND |
MFF | - | - | - | - | 1 | Loss | ND |
MFSD14B | - | - | - | - | 4 | Gain | ND |
MFSD14C | - | - | - | - | 4 | Gain | ND |
MFSD3 | - | - | - | - | 3 | Gain | ND |
MFSD4A | p.G302R | Missense | SNP | 0.474 | 2 | - | ND |
MGAT4B | p.G6C | Missense | SNP | 0.498 | 2 | - | ND |
MGST3 | p.X12_splice | Splice_Site | SNP | 0.449 | 2 | - | ND |
MIA | p.A98V | Missense | SNP | 0.500 | 2 | - | ND |
MIB1 | p.S139Y | Missense | SNP | 0.486 | 2 | - | ND |
MID1 | p.P563L | Missense | SNP | 0.989 | ND | ND | ND |
MIGA2 | - | - | - | - | 4 | Gain | ND |
MIIP | p.R261H | Missense | SNP | 0.560 | 2 | - | ND |
MINA | p.L339Pfs*25 | Frame_Shift_Del | DEL | 0.348 | ND | ND | ND |
MINPP1 | p.L159P | Missense | SNP | 0.505 | 2 | - | ND |
MKL1 | p.A881T | Missense | SNP | 0.444 | ND | ND | ND |
MKL2 | p.X749_splice | Splice_Site | SNP | 0.444 | ND | ND | ND |
MKRN3 | p.A162Gfs*15 | Frame_Shift_Ins | INS | 0.264 | 2 | - | ND |
MLANA | - | - | - | - | 3 | Gain | ND |
MLH3 | p.N674Ifs*6 | Frame_Shift_Del | DEL | 0.380 | 2 | - | ND |
MLLT3 | p.R298Gfs*19 p.S190del | Frame_Shift_Del In_Frame_Del | DEL DEL | 0.634 0.375 | 3 | Gain | ND |
MLNR | p.T410M | Missense | SNP | 0.418 | 2 | - | ND |
MLXIP | p.D180Rfs*34 | Frame_Shift_Ins | INS | 0.303 | 2 | - | ND |
MLXIPL | p.R307C | Missense | SNP | 0.444 | 2 | - | ND |
MMP2 | p.L397P | Missense | SNP | 0.422 | 2 | - | ND |
MN1 | p.P271L | Missense | SNP | 0.551 | 2 | - | ND |
MNX1 | p.R268W | Missense | SNP | 0.516 | 2 | - | ND |
MOB3B | - | - | - | - | 3 | Gain | ND |
MOBP | p.R164H | Missense | SNP | 0.535 | 2 | - | ND |
MORN5 | - | - | - | - | 4 | Gain | ND |
MPDZ | p.S1023N | Missense | SNP | 0.613 | 3 | Gain | ND |
MPP2 | p.A541V | Missense | SNP | 0.417 | 2 | - | ND |
MPP3 | p.A15V | Missense | SNP | 0.482 | 2 | - | ND |
MPPED2 | p.T212I | Missense | SNP | 0.469 | 2 | - | ND |
MROH1 | - | - | - | - | 3 | Gain | ND |
MROH2A | p.E1462D | Missense | SNP | 0.475 | 2 | - | ND |
MROH2B | p.N342D | Missense | SNP | 0.426 | 2 | - | ND |
MROH5 | - | - | - | - | 3 | Gain | ND |
MROH6 | - | - | - | - | 3 | Gain | ND |
MRPL13 | - | - | - | - | 3 | Gain | ND |
MRPL28 | - | - | - | - | 1 | Loss | ND |
MRPL41 | - | - | - | - | 4 | Gain | ND |
MRPL50 | - | - | - | - | 4 | Gain | ND |
MRPL9 | p.R69Pfs*13 | Frame_Shift_Ins | INS | 0.288 | 2 | - | ND |
MRPS2 | - | - | - | - | 4 | Gain | ND |
MRRF | - | - | - | - | 4 | Gain | ND |
MSANTD3 | - | - | - | - | 4 | Gain | ND |
MSANTD3-TMEFF1 | - | - | - | - | 4 | Gain | ND |
MSH3 | p.K383Rfs*32 | Frame_Shift_Del | DEL | 0.435 | 2 | - | ND |
MSMP | - | - | - | - | 3 | Gain | ND |
MTAP | - | - | - | - | 3 | Gain | ND |
MTBP | - | - | - | - | 3 | Gain | ND |
MTSS1 | - | - | - | - | 3 | Gain | ND |
MTUS2 | p.L105P | Missense | SNP | 0.486 | 2 | - | ND |
MUC17 | p.T1152I p.T2499A | Missense Missense | SNP SNP | 0.444 0.479 | 2 | - | ND |
MUC21 | p.T143P | Missense | SNP | 0.367 | 2 | - | ND |
MUC4 | p.R4389Q p.P1712H | Missense Missense | SNP SNP | 0.481 0.279 | 2 | - | ND |
MUC5AC | p.E5060* p.G5514C | Nonsense Missense | SNP SNP | 0.505 0.533 | 2 | - | ND |
MUC5B | p.T2982M | Missense | SNP | 0.462 | 2 | - | ND |
MUM1 | p.S54Afs*7 | Frame_Shift_Del | DEL | 0.487 | 2 | - | ND |
MUSK | - | - | - | - | 4 | Gain | ND |
MVB12B | - | - | - | - | 4 | Gain | ND |
MXRA8 | p.R301Gfs*107 | Frame_Shift_Del | DEL | 0.356 | 2 | - | ND |
MYC | - | - | - | - | 3 | Gain | ND |
MYH13 | p.L1196P | Missense | SNP | 0.448 | 2 | - | ND |
MYH14 | p.Q192* | Nonsense | SNP | 0.512 | 2 | - | ND |
MYH8 | p.L946Rfs*3 p.Q1187P | Frame_Shift_Del Missense | DEL SNP | 0.416 0.472 | 2 | - | ND |
MYMK | - | - | - | - | 4 | Gain | ND |
MYO10 | p.S1226Lfs*25 | Frame_Shift_Ins | INS | 0.291 | 2 | - | ND |
MYO15A | p.Y322Tfs*122 | Frame_Shift_Del | DEL | 0.474 | 2 | - | ND |
MYO18B | p.S2331L | Missense | SNP | 0.440 | 2 | - | ND |
MYO7A | p.E1706V | Missense | SNP | 0.408 | 2 | - | ND |
MYOM2 | p.G516S | Missense | SNP | 0.508 | 2 | - | ND |
MYORG | - | - | - | - | 3 | Gain | ND |
MYPN | p.Q240P | Missense | SNP | 0.538 | 2 | - | ND |
MYPOP | p.P380Hfs*26 | Frame_Shift_Del | DEL | 0.429 | 2 | - | ND |
NAA35 | p.E201D | Missense | SNP | 0.304 | 4 | Gain | ND |
NAALAD2 | p.P648L | Missense | SNP | 0.523 | 2 | - | ND |
NAALADL1 | p.R198H | Missense | SNP | 0.508 | 2 | - | ND |
NACC2 | - | - | - | - | 4 | Gain | ND |
NAIF1 | - | - | - | - | 4 | Gain | ND |
NANS | - | - | - | - | 4 | Gain | ND |
NAPRT | - | - | - | - | 3 | Gain | ND |
NAT6 | p.L125I | Missense | SNP | 0.463 | ND | ND | ND |
NAV3 | p.D810V | Missense | SNP | 0.475 | 2 | - | ND |
NBAS | p.Y516H | Missense | SNP | 0.466 | 2 | - | ND |
NBN | p.K320T | Missense | SNP | 0.415 | 2 | - | ND |
NBPF6 | p.R515* | Nonsense | SNP | 1.000 | 2 | - | ND |
NCAM1 | p.T631M | Missense | SNP | 0.458 | 2 | - | ND |
NCBP1 | - | - | - | - | 4 | Gain | ND |
NCDN | p.G383V | Missense | SNP | 0.374 | 2 | - | ND |
NCKAP5 | p.T1018P | Missense | SNP | 0.621 | 2 | - | ND |
NCOA6 | p.R969W | Missense | SNP | 0.458 | 2 | - | ND |
NCOR1 | p.K528Rfs*7 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
NCS1 | - | - | - | - | 4 | Gain | ND |
NDN | p.P92L | Missense | SNP | 0.667 | 2 | - | ND |
NDOR1 | - | - | - | - | 4 | Gain | ND |
NDRG1 | - | - | - | - | 3 | Gain | ND |
NDUFA10 | p.H202Pfs*25 | Frame_Shift_Ins | INS | 0.290 | 2 | - | ND |
NDUFA8 | - | - | - | - | 4 | Gain | ND |
NDUFB10 | p.E74del | In_Frame_Del | DEL | 0.385 | 2 | - | ND |
NDUFB6 | - | - | - | - | 3 | Gain | ND |
NDUFB9 | - | - | - | - | 3 | Gain | ND |
NEB | p.X7888_splice | Splice_Site | SNP | 0.495 | 2 | - | ND |
NEK6 | - | - | - | - | 4 | Gain | ND |
NEK8 | p.R275W | Missense | SNP | 0.544 | 2 | - | ND |
NELFB | - | - | - | - | 4 | Gain | ND |
NEURL1 | p.N163Kfs*2 | Frame_Shift_Ins | INS | 0.322 | 2 | - | ND |
NEURL4 | p.P220H | Missense | SNP | 0.478 | 2 | - | ND |
NFIB | - | - | - | - | 3 | Gain | ND |
NFIL3 | - | - | - | - | 4 | Gain | ND |
NFKBIB | p.L292I | Missense | SNP | 0.500 | 2 | - | ND |
NFX1 | - | - | - | - | 3 | Gain | ND |
NGEF | p.R354H | Missense | SNP | 0.483 | 2 | - | ND |
NGRN | p.V27Wfs*31 | Frame_Shift_Del | DEL | 0.504 | 2 | - | ND |
NIFK | p.R287Dfs*23 | Frame_Shift_Del | DEL | 0.444 | 2 | - | ND |
NIN | p.L1963P | Missense | SNP | 0.481 | 2 | - | ND |
NINJ1 | - | - | - | - | 4 | Gain | ND |
NIPSNAP3A | - | - | - | - | 4 | Gain | ND |
NIPSNAP3B | - | - | - | - | 4 | Gain | ND |
NKAPL | p.M391I | Missense | SNP | 0.384 | 2 | - | ND |
NKX2-2 | p.D124Gfs*186 | Frame_Shift_Ins | INS | 0.286 | 2 | - | ND |
NKX6-1 | p.S49Pfs*24 | Frame_Shift_Del | DEL | 0.411 | 2 | - | ND |
NLRP9 | p.K264Rfs*12 | Frame_Shift_Del | DEL | 0.451 | 2 | - | ND |
NME4 | - | - | - | - | 1 | Loss | ND |
NMRK1 | - | - | - | - | 4 | Gain | ND |
NOBOX | p.C497Vfs*53 | Frame_Shift_Del | DEL | 0.250 | 2 | - | ND |
NOL6 | - | - | - | - | 3 | Gain | ND |
NOL8 | - | - | - | - | 4 | Gain | ND |
NOP58 | p.K524Rfs*22 | Frame_Shift_Del | DEL | 0.280 | 2 | - | ND |
NOP9 | p.D170E | Missense | SNP | 0.057 | 2 | - | ND |
NOS1 | p.G676Afs*64 | Frame_Shift_Del | DEL | 0.518 | 2 | - | ND |
NOS3 | p.R1154H | Missense | SNP | 0.476 | 2 | - | ND |
NOTCH1 | - | - | - | - | 4 | Gain | ND |
NOTCH4 | p.T350Hfs*4 | Frame_Shift_Ins | INS | 0.289 | 2 | - | ND |
NOV | - | - | - | - | 3 | Gain | ND |
NOXA1 | - | - | - | - | 4 | Gain | ND |
NPAP1 | p.C607* | Nonsense | SNP | 0.468 | 2 | - | ND |
NPDC1 | - | - | - | - | 4 | Gain | ND |
NPHP4 | p.A578T | Missense | SNP | 0.528 | 2 | - | ND |
NPIPB15 | p.I419T | Missense | SNP | 0.286 | 2 | - | ND |
NPR2 | - | - | - | - | 3 | Gain | ND |
NPSR1 | p.Y219C | Missense | SNP | 0.565 | 2 | - | ND |
NPY2R | p.L305H | Missense | SNP | 0.534 | 2 | - | ND |
NR1I2 | p.G178R | Missense | SNP | 0.471 | 2 | - | ND |
NR4A3 | - | - | - | - | 4 | Gain | ND |
NR5A1 | - | - | - | - | 4 | Gain | ND |
NR6A1 | - | - | - | - | 4 | Gain | ND |
NRARP | - | - | - | - | 4 | Gain | ND |
NRBP2 | - | - | - | - | 3 | Gain | ND |
NRG1 | p.I323L | Missense | SNP | 0.581 | 2 | - | ND |
NRXN1 | p.Q1334H | Missense | SNP | 0.160 | 2 | - | ND |
NSMCE2 | - | - | - | - | 3 | Gain | ND |
NSMF | - | - | - | - | 4 | Gain | ND |
NT5C1B | p.Q218K | Missense | SNP | 0.518 | 2 | - | ND |
NTMT1 | - | - | - | - | 4 | Gain | ND |
NTNG2 | p.A343T | Missense | SNP | 0.244 | 4 | Gain | ND |
NTRK1 | p.R104C | Missense | SNP | 0.520 | 2 | - | ND |
NTRK2 | p.G427S | Missense | SNP | 0.454 | 4 | Gain | ND |
NTRK3 | p.T283M | Missense | SNP | 0.503 | 2 | - | ND |
NUDT2 | - | - | - | - | 3 | Gain | ND |
NUP188 | - | - | - | - | 4 | Gain | ND |
NUP214 | - | - | - | - | 4 | Gain | ND |
NUP85 | p.M142T | Missense | SNP | 0.515 | 2 | - | ND |
NUP98 | p.P1201H | Missense | SNP | 0.458 | 2 | - | ND |
NUTM2F | - | - | - | - | 4 | Gain | ND |
NUTM2G | - | - | - | - | 4 | Gain | ND |
NWD2 | p.W1259Gfs*22 | Frame_Shift_Del | DEL | 0.487 | 2 | - | ND |
NXNL2 | - | - | - | - | 4 | Gain | ND |
NXPE1 | p.F134Sfs*10 | Frame_Shift_Del | DEL | 0.587 | 2 | - | ND |
OBFC1 | p.G278Dfs*16 | Frame_Shift_Del | DEL | 0.535 | ND | ND | ND |
OBP2A | - | - | - | - | 4 | Gain | ND |
OBP2B | - | - | - | - | 4 | Gain | ND |
OBSCN | p.D4537Tfs*5 p.A7950Pfs*79 p.M2505T p.F5226S | Frame_Shift_Del Frame_Shift_Del Missense Missense | DEL DEL SNP SNP | 0.455 0.438 0.381 0.463 | 2 | - | ND |
OC90 | - | - | - | - | 3 | Gain | ND |
ODF2 | p.T710A | Missense | SNP | 0.231 | 4 | Gain | ND |
ODF3L2 | p.R218Pfs*33 | Frame_Shift_Del | DEL | 0.480 | 2 | - | ND |
OGN | - | - | - | - | 4 | Gain | ND |
OLFM1 | - | - | - | - | 4 | Gain | ND |
OLFM2 | p.V357A | Missense | SNP | 0.518 | 2 | - | ND |
OLFML2A | - | - | - | - | 4 | Gain | ND |
OLIG2 | p.A209V | Missense | SNP | 0.569 | 2 | - | ND |
OMD | - | - | - | - | 4 | Gain | ND |
OPLAH | p.G60D | Missense | SNP | 0.303 | 3 | Gain | ND |
OPTN | p.H26Tfs*19 | Frame_Shift_Del | DEL | 0.481 | 2 | - | ND |
OR13C2 | - | - | - | - | 4 | Gain | ND |
OR13C3 | - | - | - | - | 4 | Gain | ND |
OR13C4 | - | - | - | - | 4 | Gain | ND |
OR13C5 | - | - | - | - | 4 | Gain | ND |
OR13C8 | p.Y132C | Missense | SNP | 0.452 | 4 | Gain | ND |
OR13C9 | - | - | - | - | 4 | Gain | ND |
OR13D1 | - | - | - | - | 4 | Gain | ND |
OR13F1 | - | - | - | - | 4 | Gain | ND |
OR13J1 | - | - | - | - | 3 | Gain | ND |
OR1B1 | - | - | - | - | 4 | Gain | ND |
OR1J1 | - | - | - | - | 4 | Gain | ND |
OR1J2 | - | - | - | - | 4 | Gain | ND |
OR1J4 | - | - | - | - | 4 | Gain | ND |
OR1K1 | - | - | - | - | 4 | Gain | ND |
OR1L1 | - | - | - | - | 4 | Gain | ND |
OR1L3 | - | - | - | - | 4 | Gain | ND |
OR1L4 | - | - | - | - | 4 | Gain | ND |
OR1L6 | - | - | - | - | 4 | Gain | ND |
OR1L8 | - | - | - | - | 4 | Gain | ND |
OR1N1 | - | - | - | - | 4 | Gain | ND |
OR1N2 | - | - | - | - | 4 | Gain | ND |
OR1Q1 | - | - | - | - | 4 | Gain | ND |
OR1S1 | p.I268T | Missense | SNP | 0.231 | 2 | - | ND |
OR2B6 | p.N155I | Missense | SNP | 0.451 | 2 | - | ND |
OR2K2 | - | - | - | - | 4 | Gain | ND |
OR2S2 | p.A4Pfs*7 | Frame_Shift_Del | DEL | 0.296 | 3 | Gain | ND |
OR2T33 | p.F59V | Missense | SNP | 0.440 | 2 | - | ND |
OR4E2 | p.Y123C | Missense | SNP | 0.472 | 2 | - | ND |
OR51I2 | p.Q47* | Nonsense | SNP | 0.536 | 2 | - | ND |
OR5AK2 | p.K307Sfs*? | Frame_Shift_Del | DEL | 0.484 | 2 | - | ND |
OR5C1 | - | - | - | - | 4 | Gain | ND |
OR5H15 | p.L61S | Missense | SNP | 0.526 | 2 | - | ND |
OR5H2 | p.V45M | Missense | SNP | 0.507 | 2 | - | ND |
OR5M9 | p.V23A | Missense | SNP | 0.235 | 2 | - | ND |
OR5V1 | p.S91Afs*18 p.F178L | Frame_Shift_Del Missense | DEL SNP | 0.452 0.466 | 2 | - | ND |
OR6C75 | p.L200* | Frame_Shift_Del | DEL | 0.432 | 2 | - | ND |
OR6K6 | p.F279Lfs*9 | Frame_Shift_Del | DEL | 0.446 | 2 | - | ND |
OR7C1 | p.F104Sfs*12 | Frame_Shift_Del | DEL | 0.407 | 2 | - | ND |
OR7C2 | p.C179Vfs*7 | Frame_Shift_Del | DEL | 0.432 | 2 | - | ND |
OR8D4 | p.F104Sfs*48 | Frame_Shift_Del | DEL | 0.452 | 2 | - | ND |
OR8J2 | p.F62Sfs*73 | Frame_Shift_Del | DEL | 0.494 | ND | ND | ND |
OR8U1 | p.T106A | Missense | SNP | 0.427 | 2 | - | ND |
ORM1 | - | - | - | - | 4 | Gain | ND |
ORM2 | - | - | - | - | 4 | Gain | ND |
OSBPL1A | p.K894Nfs*71 | Frame_Shift_Del | DEL | 0.505 | 2 | - | ND |
OSTF1 | - | - | - | - | 4 | Gain | ND |
OTOGL | p.Y1637H | Missense | SNP | 0.465 | 2 | - | ND |
OTUD4 | p.Q1047* | Nonsense | SNP | 0.526 | 2 | - | ND |
OTUD7A | p.A730T | Missense | SNP | 0.627 | 2 | - | ND |
P2RX2 | p.R218H | Missense | SNP | 0.546 | 2 | - | ND |
PAEP | - | - | - | - | 4 | Gain | ND |
PALM2 | - | - | - | - | 4 | Gain | ND |
PALM2-AKAP2 | p.Q569R | Missense | SNP | 0.280 | 4 | Gain | ND |
PAPPA | - | - | - | - | 4 | Gain | ND |
PARL | p.F330Lfs*23 | Frame_Shift_Del | DEL | 0.533 | 2 | - | ND |
PARN | p.R505Q | Missense | SNP | 0.431 | 2 | - | ND |
PARP10 | p.L80P | Missense | SNP | 0.329 | 3 | Gain | ND |
PAX5 | - | - | - | - | 3 | Gain | ND |
PAXBP1 | p.K231Sfs*43 | Frame_Shift_Del | DEL | 0.456 | 2 | - | ND |
PAXX | - | - | - | - | 4 | Gain | ND |
PBDC1 | p.E14Gfs*21 | Frame_Shift_Ins | INS | 0.497 | ND | ND | ND |
PBX3 | - | - | - | - | 4 | Gain | ND |
PCDH1 | p.E1234A | Missense | SNP | 0.609 | 2 | - | ND |
PCDH11Y | p.N405Y | Missense | SNP | 1.000 | ND | ND | ND |
PCDH12 | p.X993_splice | Splice_Site | SNP | 0.488 | 2 | - | ND |
PCDH17 | p.R646H | Missense | SNP | 0.511 | 2 | - | ND |
PCDHA7 | p.C68Y p.A512V | Missense Missense | SNP SNP | 0.510 0.438 | 2 | - | ND |
PCDHAC2 | p.R212H | Missense | SNP | 0.447 | 2 | - | ND |
PCDHB3 | p.A654V | Missense | SNP | 0.357 | 2 | - | ND |
PCDHB5 | p.R535H | Missense | SNP | 0.289 | 2 | - | ND |
PCDHGA4 | p.C733Y | Missense | SNP | 0.534 | 2 | - | ND |
PCDHGB6 | p.G571S | Missense | SNP | 0.502 | 2 | - | ND |
PCED1A | p.P424Afs*57 | Frame_Shift_Ins | INS | 0.299 | 2 | - | ND |
PCF11 | p.E1410* | Frame_Shift_Ins | INS | 0.335 | 2 | - | ND |
PCGF2 | p.M55T | Missense | SNP | 0.483 | 2 | - | ND |
PCLO | p.K5063Rfs*2 p.T4442I | Frame_Shift_Del Missense | DEL SNP | 0.262 0.488 | 2 | - | ND |
PCSK1 | p.Y729Ifs*21 | Frame_Shift_Del | DEL | 0.448 | 2 | - | ND |
PCSK5 | - | - | - | - | 4 | Gain | ND |
PCSK9 | p.X267_splice | Splice_Site | SNP | 0.513 | 2 | - | ND |
PDCD1LG2 | - | - | - | - | 3 | Gain | ND |
PDCL | - | - | - | - | 4 | Gain | ND |
PDE10A | p.T599N | Missense | SNP | 0.283 | 2 | - | ND |
PDGFD | p.R262K | Missense | SNP | 0.517 | 2 | - | ND |
PDIA2 | - | - | - | - | 1 | Loss | ND |
PDIA5 | p.P386Rfs*26 | Frame_Shift_Del | DEL | 0.548 | 2 | - | ND |
PDILT | p.A345T | Missense | SNP | 0.410 | 2 | - | ND |
PDLIM2 | p.R556H | Missense | SNP | 0.540 | 2 | - | ND |
PDZD2 | p.K104Qfs*38 | Frame_Shift_Ins | INS | 0.271 | 2 | - | ND |
PEBP4 | p.A84T | Missense | SNP | 0.545 | 2 | - | ND |
PEX26 | p.I199T | Missense | SNP | 0.474 | 2 | - | ND |
PEX3 | p.N95Tfs*7 | Frame_Shift_Del | DEL | 0.462 | 2 | - | ND |
PFKFB2 | p.R60H | Missense | SNP | 0.463 | 2 | - | ND |
PFN4 | p.G128Efs*38 | Frame_Shift_Del | DEL | 0.474 | 2 | - | ND |
PGGT1B | p.S241Ffs*25 | Frame_Shift_Ins | INS | 0.400 | 2 | - | ND |
PGK2 | p.G187R | Missense | SNP | 0.474 | 2 | - | ND |
PGM5 | - | - | - | - | 4 | Gain | ND |
PGR | p.K73M | Missense | SNP | 0.532 | 2 | - | ND |
PHF12 | p.L990Qfs*60 | Frame_Shift_Del | DEL | 0.487 | 2 | - | ND |
PHF19 | - | - | - | - | 4 | Gain | ND |
PHF2 | p.K492Rfs*6 | Frame_Shift_Del | DEL | 0.405 | 4 | Gain | ND |
PHF20L1 | p.N322Mfs*42 | Frame_Shift_Del | DEL | 0.335 | 3 | Gain | ND |
PHF24 | - | - | - | - | 3 | Gain | ND |
PHLDA1 | p.M256V | Missense | SNP | 0.531 | 2 | - | ND |
PHPT1 | - | - | - | - | 4 | Gain | ND |
PHYHD1 | - | - | - | - | 4 | Gain | ND |
PIBF1 | p.R469C | Missense | SNP | 0.446 | 2 | - | ND |
PIEZO1 | p.W1717L | Missense | SNP | 0.502 | 2 | - | ND |
PIEZO2 | p.F248Lfs*36 p.F182L | Frame_Shift_Del Missense | DEL SNP | 0.471 0.447 | 2 | - | ND |
PIGK | p.W364* | Nonsense | SNP | 0.345 | 2 | - | ND |
PIGO | p.T788Lfs*25 | Frame_Shift_Del | DEL | 0.240 | 3 | Gain | ND |
PIK3CA | p.E545A | Missense | SNP | 0.256 | 2 | - | ND |
PIKFYVE | p.P1480S | Missense | SNP | 0.443 | 2 | - | ND |
PIP4K2A | p.E299G | Missense | SNP | 0.447 | 2 | - | ND |
PIP5K1B | - | - | - | - | 4 | Gain | ND |
PIP5KL1 | - | - | - | - | 4 | Gain | ND |
PKD1L1 | p.P780Lfs*4 | Frame_Shift_Del | DEL | 0.490 | 2 | - | ND |
PKD1L3 | p.I1369Nfs*8 | Frame_Shift_Ins | INS | 0.325 | 2 | - | ND |
PKHD1L1 | p.A894V | Missense | SNP | 0.528 | 2 | - | ND |
PKN2 | p.L720Wfs*2 | Frame_Shift_Del | DEL | 0.455 | 2 | - | ND |
PKN3 | - | - | - | - | 4 | Gain | ND |
PLA2G3 | p.Q495R | Missense | SNP | 0.615 | 2 | - | ND |
PLA2G4C | p.E47D | Missense | SNP | 0.344 | 2 | - | ND |
PLA2R1 | p.G1374Afs*32 | Frame_Shift_Del | DEL | 0.477 | 2 | - | ND |
PLAA | - | - | - | - | 3 | Gain | ND |
PLBD2 | p.Q498Sfs*36 | Frame_Shift_Del | DEL | 0.416 | 2 | - | ND |
PLCB3 | p.D96G | Missense | SNP | 0.532 | 2 | - | ND |
PLEC | - | - | - | - | 3 | Gain | ND |
PLEK2 | p.P233H | Missense | SNP | 0.454 | 2 | - | ND |
PLEKHA1 | - | - | - | - | 1 | Loss | ND |
PLEKHA7 | p.F802Sfs*21 | Frame_Shift_Del | DEL | 0.434 | 2 | - | ND |
PLEKHG1 | p.P585T | Missense | SNP | 0.531 | 2 | - | ND |
PLEKHG3 | p.E740* | Nonsense | SNP | 0.473 | 2 | - | ND |
PLEKHG4B | p.R1269C | Missense | SNP | 0.543 | 2 | - | ND |
PLEKHH1 | p.R979H | Missense | SNP | 0.584 | 2 | - | ND |
PLEKHH2 | p.E224D | Missense | SNP | 0.549 | 2 | - | ND |
PLGRKT | - | - | - | - | 3 | Gain | ND |
PLIN2 | - | - | - | - | 3 | Gain | ND |
PLPP2 | p.R145K | Missense | SNP | 0.484 | 2 | - | ND |
PLPP6 | - | - | - | - | 3 | Gain | ND |
PLPP7 | - | - | - | - | 4 | Gain | ND |
PLPPR1 | - | - | - | - | 4 | Gain | ND |
PLXNA1 | p.T1615A | Missense | SNP | 0.475 | 2 | - | ND |
PLXNA3 | p.X1196_splice | Splice_Site | SNP | 1.000 | ND | ND | ND |
PMPCA | - | - | - | - | 4 | Gain | ND |
PNPLA6 | p.T1305Rfs*17 p.R499H | Frame_Shift_Del Missense | DEL SNP | 0.405 0.523 | 2 | - | ND |
PNPLA7 | p.I1200Sfs*148 | Frame_Shift_Del | DEL | 0.215 | 4 | Gain | ND |
POLD3 | p.R300Kfs*9 | Frame_Shift_Ins | INS | 0.229 | 2 | - | ND |
POLE | p.K1926N | Missense | SNP | 0.545 | 2 | - | ND |
POLE3 | - | - | - | - | 4 | Gain | ND |
POLR1A | p.D1691N p.A608T | Missense Missense | SNP SNP | 0.498 0.445 | 2 | - | ND |
POLR1E | - | - | - | - | 3 | Gain | ND |
POLR2A | p.P1806Lfs*108 | Frame_Shift_Del | DEL | 0.489 | 2 | - | ND |
POLR3G | p.M145Wfs*90 | Frame_Shift_Del | DEL | 0.418 | 2 | - | ND |
POMT1 | - | - | - | - | 4 | Gain | ND |
POTEF | p.R728Gfs*16 | Frame_Shift_Del | DEL | 0.133 | 2 | - | ND |
POU3F3 | p.D66Tfs*26 | Frame_Shift_Del | DEL | 0.464 | 2 | - | ND |
POU5F1 | p.I184V | Missense | SNP | 0.518 | 2 | - | ND |
POU5F1B | - | - | - | - | 3 | Gain | ND |
PPFIA2 | p.R1112* | Nonsense | SNP | 0.426 | 2 | - | ND |
PPM1K | p.G130S | Missense | SNP | 0.068 | 2 | - | ND |
PPM1L | p.R14H | Missense | SNP | 0.324 | 2 | - | ND |
PPP1R16A | - | - | - | - | 3 | Gain | ND |
PPP1R1C | p.I35S | Missense | SNP | 0.465 | 2 | - | ND |
PPP1R26 | p.V898Sfs*56 p.G1097Afs*57 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.294 0.211 | 4 | Gain | ND |
PPP2R5B | p.F175S | Missense | SNP | 0.465 | 2 | - | ND |
PPP3R2 | - | - | - | - | 4 | Gain | ND |
PPP6C | - | - | - | - | 4 | Gain | ND |
PPP6R3 | - | - | - | - | 3 | Gain | ND |
PPT1 | p.M57Wfs*14 | Frame_Shift_Del | DEL | 0.494 | 2 | - | ND |
PPWD1 | p.H522R | Missense | SNP | 0.571 | 2 | - | ND |
PRDM12 | - | - | - | - | 4 | Gain | ND |
PRKACG | - | - | - | - | 4 | Gain | ND |
PRKAR2A | p.N142Kfs*3 | Frame_Shift_Ins | INS | 0.322 | 2 | - | ND |
PRKCA | p.K559Nfs*14 | Frame_Shift_Del | DEL | 0.478 | 2 | - | ND |
PRKDC | p.R2143H | Missense | SNP | 0.321 | 2 | - | ND |
PRMT9 | p.H244Tfs*43 | Frame_Shift_Ins | INS | 0.311 | 2 | - | ND |
PROX2 | p.L253R | Missense | SNP | 0.478 | 2 | - | ND |
PRPF4 | - | - | - | - | 4 | Gain | ND |
PRR32 | p.R201* | Nonsense | SNP | 1.000 | ND | ND | ND |
PRRC2B | - | - | - | - | 4 | Gain | ND |
PRRC2C | p.A1730T | Missense | SNP | 0.492 | 2 | - | ND |
PRRT1B | - | - | - | - | 4 | Gain | ND |
PRRT2 | p.A320T | Missense | SNP | 0.575 | 2 | - | ND |
PRRX2 | - | - | - | - | 4 | Gain | ND |
PRSS21 | p.S238P | Missense | SNP | 0.603 | 2 | - | ND |
PRSS3 | - | - | - | - | 3 | Gain | ND |
PRSS53 | p.G380Afs*13 | Frame_Shift_Del | DEL | 0.445 | 2 | - | ND |
PRUNE2 | - | - | - | - | 4 | Gain | ND |
PRXL2C | - | - | - | - | 4 | Gain | ND |
PSAT1 | - | - | - | - | 4 | Gain | ND |
PSCA | p.S51N | Missense | SNP | 0.707 | 3 | Gain | ND |
PSD4 | p.T777A | Missense | SNP | 0.542 | 2 | - | ND |
PSEN1 | p.S178Ffs*10 | Frame_Shift_Ins | INS | 0.331 | 2 | - | ND |
PSG6 | p.M240V | Missense | SNP | 0.412 | 2 | - | ND |
PSIP1 | - | - | - | - | 3 | Gain | ND |
PSMB7 | - | - | - | - | 4 | Gain | ND |
PSMB9 | p.D71G | Missense | SNP | 0.483 | 2 | - | ND |
PSMD5 | - | - | - | - | 4 | Gain | ND |
PSME4 | p.T1805Pfs*69 | Frame_Shift_Del | DEL | 0.483 | 2 | - | ND |
PTAR1 | - | - | - | - | 4 | Gain | ND |
PTBP3 | - | - | - | - | 4 | Gain | ND |
PTCH1 | p.V674Gfs*19 | Frame_Shift_Del | DEL | 0.495 | 4 | Gain | ND |
PTGDS | - | - | - | - | 4 | Gain | ND |
PTGES | - | - | - | - | 4 | Gain | ND |
PTGES2 | - | - | - | - | 4 | Gain | ND |
PTGR1 | - | - | - | - | 4 | Gain | ND |
PTGS1 | - | - | - | - | 4 | Gain | ND |
PTK2 | - | - | - | - | 3 | Gain | ND |
PTP4A3 | - | - | - | - | 3 | Gain | ND |
PTPA | - | - | - | - | 4 | Gain | ND |
PTPDC1 | - | - | - | - | 4 | Gain | ND |
PTPN21 | p.I849Lfs*9 | Frame_Shift_Del | DEL | 0.443 | 2 | - | ND |
PTPN3 | - | - | - | - | 4 | Gain | ND |
PTPRD | - | - | - | - | 3 | Gain | ND |
PTPRE | p.R431G | Missense | SNP | 0.527 | 2 | - | ND |
PTPRF | p.Q1762* | Nonsense | SNP | 0.534 | 2 | - | ND |
PTPRG | p.N119Tfs*10 | Frame_Shift_Del | DEL | 0.553 | 2 | - | ND |
PTPRN2 | p.V133I | Missense | SNP | 0.479 | 2 | - | ND |
PTPRO | p.L481F | Missense | SNP | 0.545 | 2 | - | ND |
PTPRQ | p.G130D | Missense | SNP | 0.520 | 2 | - | ND |
PTRH1 | - | - | - | - | 4 | Gain | ND |
PTX3 | p.Y379N | Missense | SNP | 0.529 | 2 | - | ND |
PUF60 | - | - | - | - | 3 | Gain | ND |
PUM3 | - | - | - | - | 3 | Gain | ND |
PUS7 | p.N333Tfs*3 | Frame_Shift_Del | DEL | 0.435 | 2 | - | ND |
PWWP2B | - | - | - | - | 1 | Loss | ND |
PYCR3 | - | - | - | - | 3 | Gain | ND |
QKI | p.Y328H | Missense | SNP | 0.558 | 2 | - | ND |
QRFP | - | - | - | - | 4 | Gain | ND |
QSOX2 | - | - | - | - | 4 | Gain | ND |
RAB11B | p.L38M | Missense | SNP | 0.437 | 2 | - | ND |
RAB14 | - | - | - | - | 4 | Gain | ND |
RAB21 | p.V23L | Missense | SNP | 0.506 | 2 | - | ND |
RAB36 | p.K122Nfs*77 | Frame_Shift_Del | DEL | 0.411 | 2 | - | ND |
RAB42 | p.G81Vfs*119 | Frame_Shift_Del | DEL | 0.397 | 2 | - | ND |
RABEPK | - | - | - | - | 4 | Gain | ND |
RABGAP1 | - | - | - | - | 4 | Gain | ND |
RABL6 | - | - | - | - | 4 | Gain | ND |
RAD21 | - | - | - | - | 3 | Gain | ND |
RAD23B | - | - | - | - | 4 | Gain | ND |
RALGAPA1 | p.P896H | Missense | SNP | 0.475 | 2 | - | ND |
RALGDS | - | - | - | - | 4 | Gain | ND |
RALGPS1 | - | - | - | - | 4 | Gain | ND |
RANBP6 | - | - | - | - | 3 | Gain | ND |
RAPGEF1 | - | - | - | - | 4 | Gain | ND |
RAPGEF2 | p.L1317R | Missense | SNP | 0.445 | 2 | - | ND |
RAPGEF6 | p.S1373G | Missense | SNP | 0.553 | 2 | - | ND |
RARRES1 | p.H102Q | Missense | SNP | 0.475 | 2 | - | ND |
RASAL3 | p.A771P | Missense | SNP | 0.470 | 2 | - | ND |
RASEF | - | - | - | - | 4 | Gain | ND |
RASGRP4 | p.N381S | Missense | SNP | 0.419 | 2 | - | ND |
RASIP1 | p.R70W | Missense | SNP | 0.513 | 2 | - | ND |
RASL10A | p.R110H | Missense | SNP | 0.511 | 2 | - | ND |
RBBP8 | p.K357Nfs*3 | Frame_Shift_Del | DEL | 0.345 | 2 | - | ND |
RBM12 | p.K637R | Missense | SNP | 0.508 | 2 | - | ND |
RBM18 | - | - | - | - | 4 | Gain | ND |
RBM20 | p.A29V | Missense | SNP | 0.729 | 2 | - | ND |
RBM33 | p.P622Hfs*28 | Frame_Shift_Del | DEL | 0.441 | 2 | - | ND |
RBM47 | p.G61S | Missense | SNP | 0.501 | 2 | - | ND |
RBP3 | p.Q627H | Missense | SNP | 0.466 | 2 | - | ND |
RC3H2 | - | - | - | - | 4 | Gain | ND |
RCL1 | - | - | - | - | 3 | Gain | ND |
RCN3 | p.Y125H | Missense | SNP | 0.468 | 2 | - | ND |
RECK | - | - | - | - | 3 | Gain | ND |
RECQL | p.V41Sfs*2 | Frame_Shift_Del | DEL | 0.514 | 2 | - | ND |
RECQL4 | - | - | - | - | 3 | Gain | ND |
REXO4 | - | - | - | - | 4 | Gain | ND |
RFK | - | - | - | - | 4 | Gain | ND |
RFX3 | p.Q518H | Missense | SNP | 0.666 | 3 | Gain | ND |
RGP1 | - | - | - | - | 3 | Gain | ND |
RGS11 | - | - | - | - | 1 | Loss | ND |
RGS12 | p.G1291Rfs*45 | Frame_Shift_Ins | INS | 0.226 | 2 | - | ND |
RGS22 | p.K518T | Missense | SNP | 0.494 | 2 | - | ND |
RGS3 | - | - | - | - | 4 | Gain | ND |
RGS9BP | p.G205Vfs*23 | Frame_Shift_Del | DEL | 0.429 | 2 | - | ND |
RHCE | p.V32Dfs*9 p.L387H | Frame_Shift_Ins Missense | INS SNP | 0.224 0.486 | 2 | - | ND |
RHOB | p.R70W | Missense | SNP | 0.433 | 2 | - | ND |
RHOU | p.N210Tfs*34 | Frame_Shift_Del | DEL | 0.466 | 2 | - | ND |
RHPN1 | - | - | - | - | 3 | Gain | ND |
RIC1 | p.L1156* | Frame_Shift_Del | DEL | 0.652 | 3 | Gain | ND |
RIMS1 | p.R8H | Missense | SNP | 0.604 | 2 | - | ND |
RIMS2 | p.H303N | Missense | SNP | 0.480 | 2 | - | ND |
RIN2 | p.P626H | Missense | SNP | 0.566 | 2 | - | ND |
RINT1 | p.N109Mfs*28 | Frame_Shift_Del | DEL | 0.484 | 2 | - | ND |
RLN1 | - | - | - | - | 3 | Gain | ND |
RLN2 | - | - | - | - | 3 | Gain | ND |
RMI1 | - | - | - | - | 4 | Gain | ND |
RNF103 | p.K670Sfs*27 | Frame_Shift_Del | DEL | 0.453 | 2 | - | ND |
RNF113B | p.R67Gfs*88 | Frame_Shift_Del | DEL | 0.374 | 2 | - | ND |
RNF123 | p.S711R | Missense | SNP | 0.477 | 2 | - | ND |
RNF139 | - | - | - | - | 3 | Gain | ND |
RNF17 | p.K605N | Missense | SNP | 0.421 | 2 | - | ND |
RNF183 | - | - | - | - | 4 | Gain | ND |
RNF20 | - | - | - | - | 4 | Gain | ND |
RNF208 | - | - | - | - | 4 | Gain | ND |
RNF216 | p.R526C | Missense | SNP | 0.449 | 2 | - | ND |
RNF224 | - | - | - | - | 4 | Gain | ND |
RNF34 | p.G5D | Missense | SNP | 0.472 | 2 | - | ND |
RNF38 | - | - | - | - | 3 | Gain | ND |
RNF43 | p.P370Hfs*49 p.R117Afs*41 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.510 0.479 | 2 | - | ND |
RNGTT | p.K555R | Missense | SNP | 0.525 | 2 | - | ND |
RNPC3 | - | - | - | - | 1 | Loss | ND |
ROCK1 | p.K1307Nfs*3 | Frame_Shift_Del | DEL | 0.444 | 2 | - | ND |
ROR2 | - | - | - | - | 4 | Gain | ND |
RORB | - | - | - | - | 4 | Gain | ND |
ROS1 | p.L1167* | Frame_Shift_Del | DEL | 0.462 | 2 | - | ND |
RP1 | p.G461S | Missense | SNP | 0.522 | 2 | - | ND |
RP11-310K10.1 | p.P116Lfs*11 | Frame_Shift_Del | DEL | 0.054 | ND | ND | ND |
RP11-656G20.1 | . | Splice_Site | SNP | 0.562 | ND | ND | ND |
RP11-766F14.2 | p.Q354H | Missense | SNP | 0.430 | ND | ND | ND |
RP1L1 | p.G290D | Missense | SNP | 0.520 | 2 | - | ND |
RPE65 | p.N356Mfs*17 | Frame_Shift_Del | DEL | 0.391 | 2 | - | ND |
RPL12 | p.V42Lfs*15 | Frame_Shift_Del | DEL | 0.272 | 4 | Gain | ND |
RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 1.000 | 2 | - | ND |
RPL23A | p.L25R | Missense | SNP | 0.475 | 2 | - | ND |
RPL35 | - | - | - | - | 4 | Gain | ND |
RPL7A | - | - | - | - | 4 | Gain | ND |
RPL8 | - | - | - | - | 3 | Gain | ND |
RPLP0 | p.V237A | Missense | SNP | 0.477 | 2 | - | ND |
RPP25L | - | - | - | - | 3 | Gain | ND |
RPS18 | p.H11Y | Missense | SNP | 0.443 | 2 | - | ND |
RPS6 | - | - | - | - | 3 | Gain | ND |
RRAGA | - | - | - | - | 3 | Gain | ND |
RRP12 | p.C326R | Missense | SNP | 0.523 | 2 | - | ND |
RRP9 | p.E70del | In_Frame_Del | DEL | 0.433 | 2 | - | ND |
RSBN1L | p.K214Rfs*5 | Frame_Shift_Del | DEL | 0.488 | 2 | - | ND |
RSPH9 | p.R241S | Missense | SNP | 0.537 | 2 | - | ND |
RSPRY1 | p.R351C | Missense | SNP | 0.079 | 2 | - | ND |
RSRP1 | p.Y105H | Missense | SNP | 0.436 | 2 | - | ND |
RTCB | p.M246Nfs*6 | Frame_Shift_Ins | INS | 0.309 | 2 | - | ND |
RTKN2 | p.I450Lfs*67 | Frame_Shift_Del | DEL | 0.496 | 2 | - | ND |
RTL1 | p.R835W | Missense | SNP | 0.436 | 2 | - | ND |
RUSC2 | - | - | - | - | 3 | Gain | ND |
RXFP3 | p.R406H | Missense | SNP | 0.563 | 2 | - | ND |
RXRA | - | - | - | - | 4 | Gain | ND |
RYR1 | p.R177C p.V4153A | Missense Missense | SNP SNP | 0.448 0.458 | 2 | - | ND |
RYR3 | p.K799R p.P3267L | Missense Missense | SNP SNP | 0.547 0.075 | 2 | - | ND |
S1PR3 | - | - | - | - | 4 | Gain | ND |
SACS | p.R3785Kfs*25 | Frame_Shift_Ins | INS | 0.305 | 2 | - | ND |
SALL2 | p.A55T | Missense | SNP | 0.524 | 2 | - | ND |
SAMD12 | - | - | - | - | 3 | Gain | ND |
SAP130 | p.V823G | Missense | SNP | 0.444 | 2 | - | ND |
SAPCD2 | - | - | - | - | 4 | Gain | ND |
SARDH | - | - | - | - | 4 | Gain | ND |
SARS2 | p.R342Gfs*17 | Frame_Shift_Del | DEL | 0.463 | 2 | - | ND |
SAXO1 | - | - | - | - | 3 | Gain | ND |
SCAF1 | p.T1181Pfs*28 | Frame_Shift_Del | DEL | 0.465 | 2 | - | ND |
SCAF8 | p.L1062* | Frame_Shift_Del | DEL | 0.498 | 2 | - | ND |
SCAI | - | - | - | - | 4 | Gain | ND |
SCARA5 | p.A278V | Missense | SNP | 0.096 | 2 | - | ND |
SCLT1 | p.A424Qfs*6 | Frame_Shift_Del | DEL | 0.619 | 2 | - | ND |
SCN1A | p.L331* p.A104T | Frame_Shift_Del Missense | DEL SNP | 0.438 0.426 | 2 | - | ND |
SCN2A | p.K496N p.A1809V | Missense Missense | SNP SNP | 0.376 0.445 | 2 | - | ND |
SCN5A | p.A185T | Missense | SNP | 0.538 | 2 | - | ND |
SCRIB | p.P1096Rfs*44 | Frame_Shift_Del | DEL | 0.284 | 3 | Gain | ND |
SCRT1 | - | - | - | - | 3 | Gain | ND |
SDAD1 | p.L187P | Missense | SNP | 0.413 | 2 | - | ND |
SEC16A | - | - | - | - | 4 | Gain | ND |
SEC22B | p.A184T | Missense | SNP | 0.526 | 2 | - | ND |
SEC24C | p.Q459Sfs*32 | Frame_Shift_Del | DEL | 0.536 | 2 | - | ND |
SEC61A2 | p.N241S | Missense | SNP | 0.506 | 2 | - | ND |
SEC61B | p.M55Cfs*22 | Frame_Shift_Del | DEL | 0.472 | 4 | Gain | ND |
SECISBP2 | - | - | - | - | 4 | Gain | ND |
SEMA4C | p.A258T | Missense | SNP | 0.471 | 2 | - | ND |
SEMA4D | - | - | - | - | 4 | Gain | ND |
SEMA6A | p.A859T | Missense | SNP | 0.449 | 2 | - | ND |
SEMA6B | p.R276Afs*11 | Frame_Shift_Del | DEL | 0.424 | 2 | - | ND |
SENP5 | p.K628Rfs*11 | Frame_Shift_Del | DEL | 0.455 | 2 | - | ND |
SERPINA11 | p.R314M | Missense | SNP | 0.473 | 2 | - | ND |
SERPINB1 | p.M347V | Missense | SNP | 0.490 | 2 | - | ND |
SERTAD3 | p.T104A | Missense | SNP | 0.528 | 2 | - | ND |
SET | p.T169A | Missense | SNP | 0.224 | 4 | Gain | ND |
SETD3 | p.A478Qfs*2 | Frame_Shift_Del | DEL | 0.499 | 2 | - | ND |
SETD6 | p.F195S | Missense | SNP | 0.551 | 2 | - | ND |
SETX | - | - | - | - | 4 | Gain | ND |
SGK1 | p.K433R | Missense | SNP | 0.462 | 2 | - | ND |
SH2D3A | p.A389T | Missense | SNP | 0.509 | 2 | - | ND |
SH2D3C | - | - | - | - | 4 | Gain | ND |
SH3BP1 | p.Q579Rfs*79 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
SH3BP4 | p.S507G | Missense | SNP | 0.567 | 2 | - | ND |
SH3GL2 | p.R65S | Missense | SNP | 0.309 | 3 | Gain | ND |
SH3GLB2 | - | - | - | - | 4 | Gain | ND |
SHARPIN | - | - | - | - | 3 | Gain | ND |
SHB | - | - | - | - | 3 | Gain | ND |
SHC1 | p.P31Rfs*35 | Frame_Shift_Del | DEL | 0.510 | 2 | - | ND |
SHC3 | p.V475M | Missense | SNP | 0.248 | 4 | Gain | ND |
SHH | p.F377S | Missense | SNP | 0.548 | 2 | - | ND |
SHPK | p.I178T | Missense | SNP | 0.488 | 2 | - | ND |
SHQ1 | p.X70_splice | Splice_Site | SNP | 0.357 | 2 | - | ND |
SHROOM1 | p.A724V | Missense | SNP | 0.466 | 2 | - | ND |
SIAH3 | p.G96E | Missense | SNP | 0.500 | 2 | - | ND |
SIGMAR1 | - | - | - | - | 3 | Gain | ND |
SIPA1L2 | p.C1054Afs*194 | Frame_Shift_Del | DEL | 0.583 | 2 | - | ND |
SIRPA | p.V152Rfs*39 | Frame_Shift_Ins | INS | 0.286 | 2 | - | ND |
SIRT7 | p.M150T | Missense | SNP | 0.454 | 2 | - | ND |
SIT1 | - | - | - | - | 3 | Gain | ND |
SKIV2L | p.X826_splice | Splice_Site | SNP | 0.494 | 2 | - | ND |
SLA | - | - | - | - | 3 | Gain | ND |
SLC11A2 | p.F240Lfs*19 | Frame_Shift_Del | DEL | 0.572 | 2 | - | ND |
SLC12A5 | p.A13Qfs*161 | Frame_Shift_Del | DEL | 0.333 | 2 | - | ND |
SLC12A8 | p.X131_splice | Splice_Site | SNP | 0.532 | 2 | - | ND |
SLC14A2 | p.A838S | Missense | SNP | 0.455 | 2 | - | ND |
SLC16A1 | p.Y293C | Missense | SNP | 0.528 | 2 | - | ND |
SLC16A12 | p.F73Lfs*22 | Frame_Shift_Del | DEL | 0.533 | 2 | - | ND |
SLC17A2 | p.M121Cfs*7 | Frame_Shift_Del | DEL | 0.342 | 2 | - | ND |
SLC1A1 | - | - | - | - | 3 | Gain | ND |
SLC22A4 | p.F507Sfs*7 | Frame_Shift_Del | DEL | 0.378 | 2 | - | ND |
SLC22A8 | p.K419N | Missense | SNP | 0.450 | 2 | - | ND |
SLC23A2 | p.L494I | Missense | SNP | 0.443 | 2 | - | ND |
SLC24A1 | p.E109A | Missense | SNP | 0.489 | 2 | - | ND |
SLC24A2 | - | - | - | - | 3 | Gain | ND |
SLC24A5 | p.A238V | Missense | SNP | 0.439 | 2 | - | ND |
SLC25A25 | - | - | - | - | 4 | Gain | ND |
SLC25A26 | p.C185Y | Missense | SNP | 0.517 | 2 | - | ND |
SLC25A51 | - | - | - | - | 3 | Gain | ND |
SLC27A4 | - | - | - | - | 4 | Gain | ND |
SLC28A3 | - | - | - | - | 4 | Gain | ND |
SLC2A1 | p.D240G | Missense | SNP | 0.515 | 2 | - | ND |
SLC2A6 | - | - | - | - | 4 | Gain | ND |
SLC2A8 | - | - | - | - | 4 | Gain | ND |
SLC30A3 | p.H205Tfs*260 | Frame_Shift_Del | DEL | 0.364 | 2 | - | ND |
SLC30A8 | - | - | - | - | 3 | Gain | ND |
SLC31A1 | - | - | - | - | 4 | Gain | ND |
SLC31A2 | - | - | - | - | 4 | Gain | ND |
SLC34A3 | - | - | - | - | 4 | Gain | ND |
SLC35D2 | - | - | - | - | 4 | Gain | ND |
SLC38A4 | p.K144R | Missense | SNP | 0.435 | 2 | - | ND |
SLC39A4 | - | - | - | - | 3 | Gain | ND |
SLC44A1 | - | - | - | - | 4 | Gain | ND |
SLC45A4 | - | - | - | - | 3 | Gain | ND |
SLC46A2 | p.G49R | Missense | SNP | 0.523 | 4 | Gain | ND |
SLC4A5 | p.N292Tfs*4 p.D873G | Frame_Shift_Del Missense | DEL SNP | 0.407 0.487 | 2 | - | ND |
SLC52A2 | - | - | - | - | 3 | Gain | ND |
SLC6A6 | p.L413P | Missense | SNP | 0.519 | 2 | - | ND |
SLC7A8 | p.Q514E | Missense | SNP | 0.059 | 2 | - | ND |
SLC9A5 | p.R270C | Missense | SNP | 0.438 | 2 | - | ND |
SLITRK2 | p.P690Hfs*20 | Frame_Shift_Del | DEL | 0.901 | ND | ND | ND |
SLTM | p.S364P | Missense | SNP | 0.455 | 2 | - | ND |
SLURP1 | - | - | - | - | 3 | Gain | ND |
SLURP2 | - | - | - | - | 3 | Gain | ND |
SLX4 | p.P469Hfs*4 | Frame_Shift_Del | DEL | 0.398 | 2 | - | ND |
SMARCA2 | - | - | - | - | 3 | Gain | ND |
SMC2 | p.T876I | Missense | SNP | 0.477 | 4 | Gain | ND |
SMC4 | p.K855Sfs*5 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
SMC5 | p.I140V | Missense | SNP | 0.218 | 4 | Gain | ND |
SMCR8 | p.R805H | Missense | SNP | 0.532 | 2 | - | ND |
SMG1 | p.P2421L | Missense | SNP | 0.488 | 2 | - | ND |
SMG7 | p.M803* | Frame_Shift_Del | DEL | 0.488 | 2 | - | ND |
SMIM27 | - | - | - | - | 3 | Gain | ND |
SMO | p.P694Lfs*82 | Frame_Shift_Del | DEL | 0.355 | 2 | - | ND |
SMPD2 | p.D418Tfs*? | Frame_Shift_Del | DEL | 0.261 | 2 | - | ND |
SMPD4 | p.R736W | Missense | SNP | 0.500 | 2 | - | ND |
SMU1 | - | - | - | - | 3 | Gain | ND |
SNAI3 | p.N17Tfs*92 p.A254V | Frame_Shift_Del Missense | DEL SNP | 0.437 0.439 | 2 | - | ND |
SNAPC3 | - | - | - | - | 3 | Gain | ND |
SNAPC4 | - | - | - | - | 4 | Gain | ND |
SNTB1 | - | - | - | - | 3 | Gain | ND |
SNTG2 | p.Q16* | Nonsense | SNP | 0.485 | 2 | - | ND |
SNX30 | - | - | - | - | 4 | Gain | ND |
SNX32 | p.X125_splice | Splice_Site | SNP | 0.535 | 2 | - | ND |
SOHLH1 | - | - | - | - | 4 | Gain | ND |
SOX5 | p.Y677C | Missense | SNP | 0.343 | 2 | - | ND |
SP7 | p.F95L | Missense | SNP | 0.497 | 2 | - | ND |
SP8 | p.G464del | In_Frame_Del | DEL | 0.197 | 2 | - | ND |
SPAAR | - | - | - | - | 3 | Gain | ND |
SPACA9 | - | - | - | - | 4 | Gain | ND |
SPAG8 | - | - | - | - | 3 | Gain | ND |
SPATA31A1 | p.A982T | Missense | SNP | 0.573 | 3 | Gain | ND |
SPATA31A3 | - | - | - | - | 3 | Gain | ND |
SPATA31A5 | - | - | - | - | 3 | Gain | ND |
SPATA31A7 | - | - | - | - | 3 | Gain | ND |
SPATA31D1 | - | - | - | - | 4 | Gain | ND |
SPATA31D3 | - | - | - | - | 4 | Gain | ND |
SPATA31D4 | - | - | - | - | 4 | Gain | ND |
SPATA31E1 | - | - | - | - | 4 | Gain | ND |
SPATA6L | - | - | - | - | 3 | Gain | ND |
SPATC1 | - | - | - | - | 3 | Gain | ND |
SPECC1 | p.N303Tfs*63 | Frame_Shift_Del | DEL | 0.542 | 2 | - | ND |
SPEG | p.R2315Gfs*38 | Frame_Shift_Del | DEL | 0.520 | 2 | - | ND |
SPEN | p.S44Lfs*9 p.P2055Lfs*9 p.V489I | Frame_Shift_Del Frame_Shift_Del Missense | DEL DEL SNP | 0.453 0.453 0.400 | 2 | - | ND |
SPESP1 | p.A9V | Missense | SNP | 0.481 | 2 | - | ND |
SPG11 | p.C526R | Missense | SNP | 0.473 | 2 | - | ND |
SPG7 | p.T98A | Missense | SNP | 0.483 | 2 | - | ND |
SPHK1 | p.S449G | Missense | SNP | 0.390 | 2 | - | ND |
SPHKAP | p.S50N | Missense | SNP | 0.655 | 2 | - | ND |
SPIN1 | - | - | - | - | 4 | Gain | ND |
SPINK4 | - | - | - | - | 3 | Gain | ND |
SPIRE2 | p.P429L | Missense | SNP | 0.523 | 2 | - | ND |
SPOUT1 | - | - | - | - | 4 | Gain | ND |
SPRTN | p.G222Afs*7 | Frame_Shift_Del | DEL | 0.465 | 2 | - | ND |
SPTAN1 | - | - | - | - | 4 | Gain | ND |
SPTBN2 | p.R1056H p.M136T | Missense Missense | SNP SNP | 0.524 0.436 | 2 | - | ND |
SPTLC1 | - | - | - | - | 4 | Gain | ND |
SQLE | - | - | - | - | 3 | Gain | ND |
SRCAP | p.P1878Hfs*89 | Frame_Shift_Del | DEL | 0.449 | 2 | - | ND |
SRCIN1 | p.S434L | Missense | SNP | 0.583 | 2 | - | ND |
SREBF1 | p.S460Rfs*268 p.A173Gfs*190 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.495 0.308 | 2 | - | ND |
SRPK1 | p.I192N | Missense | SNP | 0.571 | 2 | - | ND |
SRRD | p.L73R | Missense | SNP | 0.500 | 2 | - | ND |
SRSF2 | p.P7Lfs*7 | Frame_Shift_Del | DEL | 0.482 | 2 | - | ND |
SSB | p.N193Mfs*13 | Frame_Shift_Del | DEL | 0.420 | 2 | - | ND |
SSNA1 | - | - | - | - | 4 | Gain | ND |
ST3GAL1 | - | - | - | - | 3 | Gain | ND |
ST6GALNAC4 | - | - | - | - | 4 | Gain | ND |
ST6GALNAC6 | - | - | - | - | 4 | Gain | ND |
ST8SIA6 | p.A252Pfs*53 | Frame_Shift_Del | DEL | 0.377 | 2 | - | ND |
STAB1 | p.P1458H | Missense | SNP | 0.466 | 2 | - | ND |
STAMBPL1 | p.K405Rfs*21 | Frame_Shift_Del | DEL | 0.946 | 2 | - | ND |
STARD13 | p.V32A | Missense | SNP | 0.443 | 2 | - | ND |
STIL | p.N75Ifs*10 | Frame_Shift_Del | DEL | 0.450 | 2 | - | ND |
STIM1 | p.K246N | Missense | SNP | 0.460 | 2 | - | ND |
STK11IP | p.P623T | Missense | SNP | 0.400 | 2 | - | ND |
STKLD1 | - | - | - | - | 4 | Gain | ND |
STOM | - | - | - | - | 4 | Gain | ND |
STOML2 | - | - | - | - | 3 | Gain | ND |
STPG3 | - | - | - | - | 4 | Gain | ND |
STRBP | - | - | - | - | 4 | Gain | ND |
STX17 | - | - | - | - | 4 | Gain | ND |
STXBP1 | - | - | - | - | 4 | Gain | ND |
SUN3 | p.K292Nfs*9 | Frame_Shift_Del | DEL | 0.430 | 2 | - | ND |
SUOX | p.L10H | Missense | SNP | 0.500 | 2 | - | ND |
SUPT6H | p.G439V | Missense | SNP | 0.468 | 2 | - | ND |
SURF1 | - | - | - | - | 4 | Gain | ND |
SURF2 | - | - | - | - | 4 | Gain | ND |
SURF4 | - | - | - | - | 4 | Gain | ND |
SURF6 | - | - | - | - | 4 | Gain | ND |
SUSD1 | - | - | - | - | 4 | Gain | ND |
SUSD3 | - | - | - | - | 4 | Gain | ND |
SVEP1 | p.L1338Wfs*45 p.K790Nfs*25 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.235 0.248 | 4 | Gain | ND |
SWI5 | - | - | - | - | 4 | Gain | ND |
SYCP2 | p.X277_splice | Splice_Site | SNP | 0.353 | 2 | - | ND |
SYDE1 | p.G228S | Missense | SNP | 0.485 | 2 | - | ND |
SYK | - | - | - | - | 4 | Gain | ND |
SYN2 | p.P34Q | Missense | SNP | 0.481 | 2 | - | ND |
SYNE2 | p.T6593Nfs*2 | Frame_Shift_Ins | INS | 0.283 | 2 | - | ND |
SYT7 | p.D321G | Missense | SNP | 0.448 | 2 | - | ND |
SYVN1 | p.P364H | Missense | SNP | 0.567 | 2 | - | ND |
TAC4 | p.A84Hfs*101 | Frame_Shift_Del | DEL | 0.464 | 2 | - | ND |
TACC2 | p.P2149Qfs*2 | Frame_Shift_Del | DEL | 0.428 | 2 | - | ND |
TACR1 | p.L74M | Missense | SNP | 0.538 | 2 | - | ND |
TACR3 | p.D419G p.V403M p.A136T | Missense Missense Missense | SNP SNP SNP | 0.522 0.396 0.581 | 2 | - | ND |
TAF1B | p.R447Efs*5 | Frame_Shift_Del | DEL | 0.409 | 2 | - | ND |
TAF1L | - | - | - | - | 3 | Gain | ND |
TAF2 | - | - | - | - | 3 | Gain | ND |
TAL2 | - | - | - | - | 4 | Gain | ND |
TAS2R14 | p.M81Nfs*7 | Frame_Shift_Ins | INS | 0.307 | 2 | - | ND |
TATDN1 | - | - | - | - | 3 | Gain | ND |
TBC1D10B | p.I514T p.R511W p.P76Q | Missense Missense Missense | SNP SNP SNP | 0.501 0.519 0.556 | 2 | - | ND |
TBC1D13 | - | - | - | - | 4 | Gain | ND |
TBC1D2 | - | - | - | - | 4 | Gain | ND |
TBC1D31 | - | - | - | - | 3 | Gain | ND |
TBC1D4 | p.R244H | Missense | SNP | 0.524 | 2 | - | ND |
TBCA | - | - | - | - | 1 | Loss | ND |
TCEA3 | p.X127_splice | Splice_Site | SNP | 0.485 | 2 | - | ND |
TCERG1 | p.K957Rfs*17 | Frame_Shift_Del | DEL | 0.487 | 2 | - | ND |
TCF20 | p.L1943Cfs*118 | Frame_Shift_Del | DEL | 0.414 | 2 | - | ND |
TCL1A | p.E40K | Missense | SNP | 0.480 | 2 | - | ND |
TDRD6 | p.G1467W | Missense | SNP | 0.514 | 2 | - | ND |
TDRD7 | - | - | - | - | 4 | Gain | ND |
TEK | p.I980* | Frame_Shift_Del | DEL | 0.617 | 3 | Gain | ND |
TENM3 | p.V139Sfs*19 p.R2086C | Frame_Shift_Del Missense | DEL SNP | 0.474 0.406 | 2 | - | ND |
TENM4 | p.A195T | Missense | SNP | 0.455 | 2 | - | ND |
TEP1 | p.S1036G | Missense | SNP | 0.519 | 2 | - | ND |
TEPSIN | p.G452Afs*72 | Frame_Shift_Del | DEL | 0.480 | 2 | - | ND |
TESK1 | - | - | - | - | 3 | Gain | ND |
TEX10 | - | - | - | - | 4 | Gain | ND |
TEX14 | p.A467Sfs*11 | Frame_Shift_Ins | INS | 0.310 | 2 | - | ND |
TEX15 | p.A1007Lfs*12 | Frame_Shift_Del | DEL | 0.461 | 2 | - | ND |
TEX48 | - | - | - | - | 4 | Gain | ND |
TFAP2D | p.A119V | Missense | SNP | 0.480 | 2 | - | ND |
TFG | p.L49P | Missense | SNP | 0.361 | 2 | - | ND |
TFIP11 | p.R346W | Missense | SNP | 0.514 | 2 | - | ND |
TG | - | - | - | - | 3 | Gain | ND |
TGFBR1 | - | - | - | - | 4 | Gain | ND |
TGFBR2 | p.K153Afs*3 | Frame_Shift_Del | DEL | 0.842 | 2 | - | ND |
TGFBRAP1 | p.A457T | Missense | SNP | 0.447 | 2 | - | ND |
TGIF2LY | p.P110L | Missense | SNP | 1.000 | ND | ND | ND |
TGM6 | p.Q360Rfs*99 | Frame_Shift_Del | DEL | 0.466 | 2 | - | ND |
THEM6 | - | - | - | - | 3 | Gain | ND |
THOP1 | p.T261M | Missense | SNP | 0.479 | 2 | - | ND |
THSD7B | p.P645Lfs*35 p.T782I | Frame_Shift_Del Missense | DEL SNP | 0.457 0.388 | 2 | - | ND |
TIGD5 | - | - | - | - | 3 | Gain | ND |
TIMM17B | p.L122Pfs*56 | Frame_Shift_Ins | INS | 0.477 | ND | ND | ND |
TINAGL1 | p.X236_splice | Splice_Site | SNP | 0.458 | 2 | - | ND |
TJP2 | - | - | - | - | 4 | Gain | ND |
TLE1 | - | - | - | - | 4 | Gain | ND |
TLE4 | - | - | - | - | 4 | Gain | ND |
TLN1 | - | - | - | - | 3 | Gain | ND |
TLR4 | - | - | - | - | 4 | Gain | ND |
TLR5 | p.F201Lfs*20 | Frame_Shift_Del | DEL | 0.462 | 2 | - | ND |
TM2D2 | p.P204S | Missense | SNP | 0.407 | 2 | - | ND |
TMBIM4 | p.Y221Ifs*4 | Frame_Shift_Del | DEL | 0.397 | 2 | - | ND |
TMC1 | - | - | - | - | 4 | Gain | ND |
TMCC1 | p.F630Lfs*67 | Frame_Shift_Del | DEL | 0.446 | 2 | - | ND |
TMEFF1 | - | - | - | - | 4 | Gain | ND |
TMEM117 | p.A31V | Missense | SNP | 0.463 | 2 | - | ND |
TMEM120A | p.M257T | Missense | SNP | 0.505 | 2 | - | ND |
TMEM132A | p.A434Pfs*5 | Frame_Shift_Del | DEL | 0.428 | 2 | - | ND |
TMEM132D | p.W964R | Missense | SNP | 0.533 | 2 | - | ND |
TMEM141 | - | - | - | - | 4 | Gain | ND |
TMEM143 | p.G261C | Missense | SNP | 0.502 | 2 | - | ND |
TMEM144 | p.M313V | Missense | SNP | 0.571 | 2 | - | ND |
TMEM185B | p.P341Lfs*4 | Frame_Shift_Del | DEL | 0.481 | 2 | - | ND |
TMEM201 | p.E288A | Missense | SNP | 0.526 | 2 | - | ND |
TMEM203 | p.L88R | Missense | SNP | 0.250 | 4 | Gain | ND |
TMEM210 | - | - | - | - | 4 | Gain | ND |
TMEM215 | - | - | - | - | 3 | Gain | ND |
TMEM229A | p.E30D | Missense | SNP | 0.168 | 2 | - | ND |
TMEM245 | - | - | - | - | 4 | Gain | ND |
TMEM246 | - | - | - | - | 4 | Gain | ND |
TMEM249 | - | - | - | - | 3 | Gain | ND |
TMEM250 | - | - | - | - | 4 | Gain | ND |
TMEM252 | - | - | - | - | 4 | Gain | ND |
TMEM268 | - | - | - | - | 4 | Gain | ND |
TMEM38B | - | - | - | - | 4 | Gain | ND |
TMEM65 | - | - | - | - | 3 | Gain | ND |
TMEM71 | - | - | - | - | 3 | Gain | ND |
TMEM74B | p.A167T | Missense | SNP | 0.464 | 2 | - | ND |
TMEM8A | - | - | - | - | 1 | Loss | ND |
TMEM8B | - | - | - | - | 3 | Gain | ND |
TMEM97 | p.K176Nfs*188 | Frame_Shift_Del | DEL | 0.416 | 2 | - | ND |
TMOD1 | - | - | - | - | 4 | Gain | ND |
TMTC1 | p.S310Y | Missense | SNP | 0.452 | 2 | - | ND |
TNC | - | - | - | - | 4 | Gain | ND |
TNFAIP8 | p.L94M | Missense | SNP | 0.449 | 2 | - | ND |
TNFRSF11B | - | - | - | - | 3 | Gain | ND |
TNFSF10 | p.F275Lfs*5 | Frame_Shift_Del | DEL | 0.486 | 2 | - | ND |
TNFSF11 | p.L12M | Missense | SNP | 0.540 | 2 | - | ND |
TNFSF14 | p.P155L | Missense | SNP | 0.451 | 2 | - | ND |
TNFSF15 | - | - | - | - | 4 | Gain | ND |
TNFSF8 | - | - | - | - | 4 | Gain | ND |
TNIK | p.F1209Lfs*9 | Frame_Shift_Del | DEL | 0.478 | 2 | - | ND |
TNIP1 | p.K302del | In_Frame_Del | DEL | 0.515 | 2 | - | ND |
TNK2 | p.R8Gfs*23 | Frame_Shift_Del | DEL | 0.385 | 2 | - | ND |
TNPO3 | p.M861V | Missense | SNP | 0.421 | 2 | - | ND |
TOMM34 | p.S84I | Missense | SNP | 0.507 | 2 | - | ND |
TOMM5 | - | - | - | - | 3 | Gain | ND |
TONSL | - | - | - | - | 3 | Gain | ND |
TOP1MT | - | - | - | - | 3 | Gain | ND |
TOPAZ1 | p.A632Lfs*5 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
TOPORS | - | - | - | - | 3 | Gain | ND |
TOR1A | - | - | - | - | 4 | Gain | ND |
TOR1B | - | - | - | - | 4 | Gain | ND |
TOR2A | - | - | - | - | 4 | Gain | ND |
TOR4A | - | - | - | - | 4 | Gain | ND |
TOX | p.A317V | Missense | SNP | 0.510 | 2 | - | ND |
TOX2 | p.Q173H | Missense | SNP | 0.461 | 2 | - | ND |
TP53 | p.G244C | Missense | SNP | 0.541 | 2 | - | ND |
TPD52L3 | - | - | - | - | 3 | Gain | ND |
TPM2 | - | - | - | - | 3 | Gain | ND |
TPRN | - | - | - | - | 4 | Gain | ND |
TRAF1 | p.N379S | Missense | SNP | 0.225 | 4 | Gain | ND |
TRAF2 | p.P9Lfs*77 | Frame_Shift_Del | DEL | 0.199 | 4 | Gain | ND |
TRANK1 | p.P972Qfs*12 p.R2388C p.T405A p.R396S | Frame_Shift_Del Missense Missense Missense | DEL SNP SNP SNP | 0.497 0.443 0.503 0.514 | 2 | - | ND |
TRAPPC9 | - | - | - | - | 3 | Gain | ND |
TRDN | p.S297Lfs*8 | Frame_Shift_Del | DEL | 0.568 | 2 | - | ND |
TRERF1 | p.G490E | Missense | SNP | 0.471 | 2 | - | ND |
TRIB1 | - | - | - | - | 3 | Gain | ND |
TRIM14 | - | - | - | - | 4 | Gain | ND |
TRIM15 | p.P436S | Missense | SNP | 0.535 | 2 | - | ND |
TRIM26 | p.S436Kfs*8 | Frame_Shift_Ins | INS | 0.310 | 2 | - | ND |
TRIM32 | p.R540W | Missense | SNP | 0.457 | 4 | Gain | ND |
TRIM44 | p.R173Sfs*12 | Frame_Shift_Del | DEL | 0.429 | 2 | - | ND |
TRIM51 | p.M144Cfs*15 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
TRIO | p.G2805D | Missense | SNP | 0.477 | 2 | - | ND |
TRIP11 | p.T1899A | Missense | SNP | 0.722 | 2 | - | ND |
TRMO | - | - | - | - | 4 | Gain | ND |
TRMT10B | - | - | - | - | 3 | Gain | ND |
TRMT12 | - | - | - | - | 3 | Gain | ND |
TRPM2 | p.A177Pfs*6 p.A785Rfs*17 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.433 0.527 | 2 | - | ND |
TRPM3 | p.R1282C | Missense | SNP | 0.455 | 4 | Gain | ND |
TRPM6 | - | - | - | - | 4 | Gain | ND |
TRPS1 | - | - | - | - | 3 | Gain | ND |
TRPT1 | p.F210V | Missense | SNP | 0.462 | 2 | - | ND |
TRUB2 | - | - | - | - | 4 | Gain | ND |
TSC1 | - | - | - | - | 4 | Gain | ND |
TSNARE1 | p.S141I | Missense | SNP | 0.660 | 3 | Gain | ND |
TSPAN17 | p.V227M | Missense | SNP | 0.244 | 2 | - | ND |
TSSK6 | p.A258V | Missense | SNP | 0.465 | 2 | - | ND |
TSTA3 | - | - | - | - | 3 | Gain | ND |
TSTD2 | - | - | - | - | 4 | Gain | ND |
TTBK1 | p.G198E | Missense | SNP | 0.471 | 2 | - | ND |
TTBK2 | p.W603R | Missense | SNP | 0.442 | 2 | - | ND |
TTC13 | p.R119Efs*14 | Frame_Shift_Del | DEL | 0.491 | 2 | - | ND |
TTC16 | - | - | - | - | 4 | Gain | ND |
TTC39B | - | - | - | - | 3 | Gain | ND |
TTF1 | - | - | - | - | 4 | Gain | ND |
TTI1 | p.A681T | Missense | SNP | 0.491 | 2 | - | ND |
TTK | p.R854Gfs*39 | Frame_Shift_Del | DEL | 0.456 | 2 | - | ND |
TTLL11 | - | - | - | - | 4 | Gain | ND |
TTLL12 | p.P189L | Missense | SNP | 0.496 | 2 | - | ND |
TTLL3 | p.E371Rfs*44 | Frame_Shift_Del | DEL | 0.455 | 2 | - | ND |
TTN | p.K13542Nfs*56 p.R12033Kfs*7 p.K22872R p.R9840H p.L2730R p.K2452N | Frame_Shift_Del Frame_Shift_Ins Missense Missense Missense Missense | DEL INS SNP SNP SNP SNP | 0.269 0.305 0.509 0.466 0.444 0.517 | 2 | - | ND |
TUBA1A | p.G10Wfs*30 | Frame_Shift_Ins | INS | 0.292 | 2 | - | ND |
TUBA3D | p.Q176Pfs*24 | Frame_Shift_Ins | INS | 0.245 | 2 | - | ND |
TUBB4B | - | - | - | - | 4 | Gain | ND |
TUBGCP5 | p.G910W | Missense | SNP | 0.092 | 2 | - | ND |
TULP4 | p.R403Afs*24 p.Q291R | Frame_Shift_Del Missense | DEL SNP | 0.429 0.548 | 2 | - | ND |
TUSC1 | p.W211C | Missense | SNP | 0.386 | 3 | Gain | ND |
TUT1 | p.L115I | Missense | SNP | 0.500 | 2 | - | ND |
TUT7 | - | - | - | - | 4 | Gain | ND |
TXN | - | - | - | - | 4 | Gain | ND |
TXNDC8 | - | - | - | - | 4 | Gain | ND |
TYRP1 | - | - | - | - | 3 | Gain | ND |
UAP1L1 | - | - | - | - | 4 | Gain | ND |
UBA6 | p.F299Lfs*8 | Frame_Shift_Del | DEL | 0.605 | 2 | - | ND |
UBA7 | p.S38L | Missense | SNP | 0.505 | 2 | - | ND |
UBAC1 | - | - | - | - | 4 | Gain | ND |
UBAP1 | - | - | - | - | 3 | Gain | ND |
UBAP2 | - | - | - | - | 3 | Gain | ND |
UBE2R2 | - | - | - | - | 3 | Gain | ND |
UBE3C | p.Q600R | Missense | SNP | 0.564 | 2 | - | ND |
UBE4B | p.A444Hfs*14 | Frame_Shift_Del | DEL | 0.451 | 2 | - | ND |
UBQLN1 | - | - | - | - | 4 | Gain | ND |
UBXN2B | p.R268C | Missense | SNP | 0.463 | 2 | - | ND |
UCK1 | - | - | - | - | 4 | Gain | ND |
UEVLD | p.A279S p.R151Q | Missense Missense | SNP SNP | 0.437 0.443 | 2 | - | ND |
UGCG | - | - | - | - | 4 | Gain | ND |
UGGT2 | p.L1246* | Frame_Shift_Del | DEL | 0.442 | 2 | - | ND |
UHRF2 | - | - | - | - | 3 | Gain | ND |
ULK2 | p.F266Lfs*11 | Frame_Shift_Del | DEL | 0.477 | 2 | - | ND |
UMODL1 | p.G384V | Missense | SNP | 0.492 | 2 | - | ND |
UNC13B | - | - | - | - | 3 | Gain | ND |
UNC79 | p.P39H | Missense | SNP | 0.495 | 2 | - | ND |
UNKL | p.A405Pfs*21 | Frame_Shift_Del | DEL | 0.526 | 2 | - | ND |
UPF3A | p.E267Rfs*13 | Frame_Shift_Del | DEL | 0.384 | 2 | - | ND |
URB1 | p.W619G | Missense | SNP | 0.364 | 2 | - | ND |
URGCP | p.A166T | Missense | SNP | 0.068 | 2 | - | ND |
URM1 | - | - | - | - | 4 | Gain | ND |
USP14 | p.Y333Lfs*2 | Frame_Shift_Ins | INS | 0.302 | 2 | - | ND |
USP2 | p.G88C | Missense | SNP | 0.436 | 2 | - | ND |
USP20 | - | - | - | - | 4 | Gain | ND |
USP34 | p.S2127R | Missense | SNP | 0.395 | 2 | - | ND |
USP35 | p.T655Pfs*23 | Frame_Shift_Del | DEL | 0.435 | 2 | - | ND |
USP42 | p.K1236Rfs*92 | Frame_Shift_Del | DEL | 0.401 | 2 | - | ND |
UTP14A | p.T483A | Missense | SNP | 1.000 | ND | ND | ND |
UTP23 | - | - | - | - | 3 | Gain | ND |
VANGL2 | p.R169C | Missense | SNP | 0.558 | 2 | - | ND |
VAPB | p.R38* | Nonsense | SNP | 0.497 | 2 | - | ND |
VARS2 | p.A1053T | Missense | SNP | 0.471 | 2 | - | ND |
VAV2 | - | - | - | - | 4 | Gain | ND |
VCAN | p.P31L | Missense | SNP | 0.573 | 2 | - | ND |
VCP | - | - | - | - | 3 | Gain | ND |
VCPIP1 | p.T177I | Missense | SNP | 0.455 | 2 | - | ND |
VEZF1 | p.Q354dup | In_Frame_Ins | INS | 0.252 | 2 | - | ND |
VIL1 | p.F37L | Missense | SNP | 0.504 | 2 | - | ND |
VIPR2 | p.R54W | Missense | SNP | 0.492 | 2 | - | ND |
VLDLR | - | - | - | - | 3 | Gain | ND |
VPS13A | - | - | - | - | 4 | Gain | ND |
VPS13C | p.K158Nfs*33 | Frame_Shift_Del | DEL | 0.397 | 2 | - | ND |
VPS26A | p.D263G | Missense | SNP | 0.638 | 2 | - | ND |
VPS28 | - | - | - | - | 3 | Gain | ND |
VPS35 | p.A703Lfs*2 | Frame_Shift_Del | DEL | 0.544 | 2 | - | ND |
VSIG10 | - | - | - | - | 1 | Loss | ND |
VSX1 | p.D136N | Missense | SNP | 0.552 | 2 | - | ND |
VSX2 | p.G223R | Missense | SNP | 0.438 | 2 | - | ND |
VWA7 | p.Q279R | Missense | SNP | 0.481 | 2 | - | ND |
VWC2 | p.A288D | Missense | SNP | 0.492 | 2 | - | ND |
WARS2 | p.R252H | Missense | SNP | 0.480 | 2 | - | ND |
WASHC5 | - | - | - | - | 3 | Gain | ND |
WBP1 | p.H185Lfs*11 | Frame_Shift_Ins | INS | 0.197 | 2 | - | ND |
WDFY4 | p.F2760Lfs*78 | Frame_Shift_Del | DEL | 0.524 | 2 | - | ND |
WDR17 | p.L1171Q | Missense | SNP | 0.449 | 2 | - | ND |
WDR31 | - | - | - | - | 4 | Gain | ND |
WDR34 | - | - | - | - | 4 | Gain | ND |
WDR38 | p.K102T | Missense | SNP | 0.240 | 4 | Gain | ND |
WDR5 | - | - | - | - | 4 | Gain | ND |
WDR6 | p.E55A | Missense | SNP | 0.275 | 2 | - | ND |
WDR87 | p.S240N | Missense | SNP | 0.446 | 2 | - | ND |
WDR97 | - | - | - | - | 3 | Gain | ND |
WDYHV1 | - | - | - | - | 3 | Gain | ND |
WHRN | p.P320S | Missense | SNP | 0.466 | 4 | Gain | ND |
WHSC1 | p.H793N | Missense | SNP | 0.471 | ND | ND | ND |
WHSC1L1 | p.F313Lfs*67 p.F106Lfs*38 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.420 0.514 | ND | ND | ND |
WISP1 | - | - | - | - | 3 | Gain | ND |
WIZ | p.A311V | Missense | SNP | 0.485 | 2 | - | ND |
WLS | p.I449V | Missense | SNP | 0.544 | 2 | - | ND |
WNK2 | - | - | - | - | 4 | Gain | ND |
WNT1 | p.G169Afs*30 | Frame_Shift_Del | DEL | 0.479 | 2 | - | ND |
WNT3 | p.R176H | Missense | SNP | 0.443 | 2 | - | ND |
WSB2 | - | - | - | - | 1 | Loss | ND |
WWP1 | p.V193A p.G491D p.X866_splice | Missense Missense Splice_Site | SNP SNP SNP | 0.529 0.467 0.646 | 2 | - | ND |
XDH | p.S289L | Missense | SNP | 0.360 | 2 | - | ND |
XPA | - | - | - | - | 4 | Gain | ND |
XRCC3 | p.G285D | Missense | SNP | 0.490 | 2 | - | ND |
XRN1 | p.T235Hfs*19 | Frame_Shift_Del | DEL | 0.505 | 2 | - | ND |
XYLT2 | p.G529Afs*78 | Frame_Shift_Del | DEL | 0.394 | 2 | - | ND |
ZBTB26 | - | - | - | - | 4 | Gain | ND |
ZBTB34 | - | - | - | - | 4 | Gain | ND |
ZBTB43 | - | - | - | - | 4 | Gain | ND |
ZBTB5 | - | - | - | - | 3 | Gain | ND |
ZBTB6 | - | - | - | - | 4 | Gain | ND |
ZBTB7C | p.D132Tfs*90 | Frame_Shift_Del | DEL | 0.688 | 2 | - | ND |
ZC3H18 | p.X427_splice | Splice_Site | SNP | 0.421 | 2 | - | ND |
ZC3H3 | - | - | - | - | 3 | Gain | ND |
ZC3H6 | p.S1077Vfs*4 | Frame_Shift_Del | DEL | 0.410 | 2 | - | ND |
ZCCHC24 | p.R194Afs*? | Frame_Shift_Del | DEL | 0.449 | 2 | - | ND |
ZCCHC7 | - | - | - | - | 3 | Gain | ND |
ZCCHC8 | p.Q523P | Missense | SNP | 0.476 | 2 | - | ND |
ZDHHC12 | - | - | - | - | 4 | Gain | ND |
ZDHHC21 | p.K165Sfs*15 | Frame_Shift_Del | DEL | 0.627 | 3 | Gain | ND |
ZDHHC7 | p.G83R | Missense | SNP | 0.458 | 2 | - | ND |
ZEB2 | p.A7V | Missense | SNP | 0.482 | 2 | - | ND |
ZER1 | - | - | - | - | 4 | Gain | ND |
ZFAND5 | - | - | - | - | 4 | Gain | ND |
ZFAT | - | - | - | - | 3 | Gain | ND |
ZFP37 | - | - | - | - | 4 | Gain | ND |
ZFP41 | - | - | - | - | 3 | Gain | ND |
ZFYVE19 | p.K92del | In_Frame_Del | DEL | 0.447 | 2 | - | ND |
ZFYVE26 | p.Q499R | Missense | SNP | 0.461 | 2 | - | ND |
ZHX1 | - | - | - | - | 3 | Gain | ND |
ZHX1-C8orf76 | - | - | - | - | 3 | Gain | ND |
ZHX2 | - | - | - | - | 3 | Gain | ND |
ZIC2 | p.H239dup | In_Frame_Ins | INS | 0.169 | 2 | - | ND |
ZMAT1 | p.K232N | Missense | SNP | 0.992 | ND | ND | ND |
ZMPSTE24 | p.L362Yfs*5 | Frame_Shift_Del | DEL | 0.378 | 2 | - | ND |
ZMYND19 | - | - | - | - | 4 | Gain | ND |
ZNF106 | p.S482Pfs*33 | Frame_Shift_Del | DEL | 0.403 | 2 | - | ND |
ZNF114 | p.Y315Ifs*6 | Frame_Shift_Del | DEL | 0.433 | 2 | - | ND |
ZNF16 | - | - | - | - | 3 | Gain | ND |
ZNF160 | p.T90I | Missense | SNP | 0.515 | 2 | - | ND |
ZNF169 | - | - | - | - | 4 | Gain | ND |
ZNF189 | - | - | - | - | 4 | Gain | ND |
ZNF250 | - | - | - | - | 3 | Gain | ND |
ZNF251 | - | - | - | - | 3 | Gain | ND |
ZNF34 | - | - | - | - | 3 | Gain | ND |
ZNF367 | - | - | - | - | 4 | Gain | ND |
ZNF423 | p.R617W | Missense | SNP | 0.468 | 2 | - | ND |
ZNF449 | p.R30C | Missense | SNP | 1.000 | ND | ND | ND |
ZNF462 | - | - | - | - | 4 | Gain | ND |
ZNF469 | p.S2888G | Missense | SNP | 0.564 | 2 | - | ND |
ZNF470 | p.Y621C | Missense | SNP | 0.554 | 2 | - | ND |
ZNF483 | - | - | - | - | 4 | Gain | ND |
ZNF484 | - | - | - | - | 4 | Gain | ND |
ZNF486 | p.G125Afs*22 p.K180Nfs*3 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.468 0.512 | 2 | - | ND |
ZNF497 | p.G308R | Missense | SNP | 0.485 | 2 | - | ND |
ZNF510 | - | - | - | - | 4 | Gain | ND |
ZNF517 | - | - | - | - | 3 | Gain | ND |
ZNF555 | p.K534R | Missense | SNP | 0.377 | 2 | - | ND |
ZNF557 | p.K402Nfs*40 | Frame_Shift_Del | DEL | 0.444 | 2 | - | ND |
ZNF560 | p.R536Q | Missense | SNP | 0.433 | 2 | - | ND |
ZNF563 | p.W208Gfs*62 | Frame_Shift_Del | DEL | 0.470 | 2 | - | ND |
ZNF572 | - | - | - | - | 3 | Gain | ND |
ZNF581 | p.R143Q | Missense | SNP | 0.512 | 2 | - | ND |
ZNF585B | p.P224T | Missense | SNP | 0.568 | 2 | - | ND |
ZNF587 | p.N128Tfs*31 | Frame_Shift_Del | DEL | 0.319 | 2 | - | ND |
ZNF608 | p.A465Pfs*46 | Frame_Shift_Del | DEL | 0.434 | 2 | - | ND |
ZNF610 | p.L356P | Missense | SNP | 0.473 | 2 | - | ND |
ZNF618 | p.P723S | Missense | SNP | 0.485 | 4 | Gain | ND |
ZNF623 | - | - | - | - | 3 | Gain | ND |
ZNF658 | - | - | - | - | 3 | Gain | ND |
ZNF696 | - | - | - | - | 3 | Gain | ND |
ZNF7 | - | - | - | - | 3 | Gain | ND |
ZNF707 | - | - | - | - | 3 | Gain | ND |
ZNF710 | p.E83G | Missense | SNP | 0.604 | 2 | - | ND |
ZNF729 | p.C1245W | Missense | SNP | 0.376 | 2 | - | ND |
ZNF782 | - | - | - | - | 4 | Gain | ND |
ZNF79 | - | - | - | - | 4 | Gain | ND |
ZNF836 | p.G382R | Missense | SNP | 0.464 | 2 | - | ND |
ZNF839 | p.K242Nfs*3 | Frame_Shift_Del | DEL | 0.517 | 2 | - | ND |
ZNF883 | - | - | - | - | 4 | Gain | ND |
ZNF90 | p.G179D | Missense | SNP | 0.443 | 2 | - | ND |
ZNRF3 | p.V183* | Frame_Shift_Del | DEL | 0.426 | 2 | - | ND |
ZSCAN5A | p.K363E | Missense | SNP | 0.524 | 2 | - | ND |
ZYX | p.A3T | Missense | SNP | 0.399 | 2 | - | ND |
ZZZ3 | p.C24Vfs*5 | Frame_Shift_Del | DEL | 0.491 | ND | ND | ND |