| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | Called |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| A1CF | - | - | - | - | 3 | Gain | - |
| ABCB4 | p.S339Qfs*3 | Frame_Shift_Del | DEL | 0.600 | 2 | - | - |
| ABCB6 | p.G318Vfs*9 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
| ABCC10 | p.Q369* | Nonsense | SNP | 0.539 | 2 | - | - |
| ABCC2 | - | - | - | - | 3 | Gain | - |
| ABCC4 | p.I1219Sfs*11 | Frame_Shift_Del | DEL | 0.846 | 2 | - | - |
| ABCG8 | p.T401M | Missense | SNP | 0.490 | 2 | - | - |
| ABHD3 | - | - | - | - | 3 | Gain | - |
| ABI1 | - | - | - | - | 3 | Gain | - |
| ABLIM1 | - | - | - | - | 3 | Gain | - |
| ABRAXAS2 | - | - | - | - | 3 | Gain | - |
| AC005324.4 | - | - | - | - | 2 | - | AC005324.4--RNU5B-1 |
| AC007998.2 | - | - | - | - | 3 | Gain | - |
| AC012254.2 | - | - | - | - | 3 | Gain | - |
| AC022400.6 | - | - | - | - | 3 | Gain | - |
| AC067752.1 | - | - | - | - | 3 | Gain | - |
| AC068896.1 | - | - | - | - | 3 | Gain | - |
| AC090227.1 | - | - | - | - | 3 | Gain | - |
| AC090360.1 | - | - | - | - | 3 | Gain | - |
| AC091551.1 | - | - | - | - | 3 | Gain | - |
| ACAA2 | - | - | - | - | 3 | Gain | - |
| ACAD11 | p.R127Q | Missense | SNP | 0.444 | 2 | - | - |
| ACADSB | - | - | - | - | 3 | Gain | - |
| ACBD5 | - | - | - | - | 3 | Gain | - |
| ACBD7 | - | - | - | - | 3 | Gain | - |
| ACSL5 | - | - | - | - | 3 | Gain | - |
| ACSM6 | - | - | - | - | 3 | Gain | - |
| ACTA2 | - | - | - | - | 3 | Gain | - |
| ACTB | p.P332S | Missense | SNP | 0.516 | 2 | - | - |
| ACTR1A | - | - | - | - | 3 | Gain | - |
| ACTR2 | p.R354C | Missense | SNP | 0.410 | 2 | - | - |
| ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
| ADAM12 | - | - | - | - | 3 | Gain | - |
| ADAM20 | p.R103Qfs*12 | Frame_Shift_Ins | INS | 0.293 | 2 | - | - |
| ADAM21 | p.V339M | Missense | SNP | 0.476 | 2 | - | - |
| ADAM8 | - | - | - | - | 3 | Gain | - |
| ADAMTS14 | - | - | - | - | 3 | Gain | - |
| ADAMTS9 | p.S1012Afs*75 p.R1350W | Frame_Shift_Del Missense | DEL SNP | 0.448 0.519 | 2 | - | - |
| ADAMTSL4 | p.G780Vfs*62 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
| ADARB2 | - | - | - | - | 3 | Gain | - |
| ADCY5 | p.D192_S193del | In_Frame_Del | DEL | 0.306 | 2 | - | - |
| ADCY9 | p.P817Rfs*87 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
| ADCYAP1 | - | - | - | - | 3 | Gain | - |
| ADD2 | p.R134Q | Missense | SNP | 0.510 | 2 | - | - |
| ADD3 | p.R434C | Missense | SNP | 0.639 | 3 | Gain | - |
| ADGRA1 | - | - | - | - | 3 | Gain | - |
| ADGRF5 | p.Y1113H | Missense | SNP | 0.449 | 2 | - | - |
| ADGRL3 | p.V963Cfs*39 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
| ADIRF | - | - | - | - | 3 | Gain | - |
| ADK | - | - | - | - | 3 | Gain | - |
| ADNP2 | - | - | - | - | 3 | Gain | - |
| ADO | - | - | - | - | 3 | Gain | - |
| ADRA2A | - | - | - | - | 3 | Gain | - |
| ADRB1 | - | - | - | - | 3 | Gain | - |
| AEBP1 | p.Q255Afs*21 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
| AFAP1L2 | - | - | - | - | 3 | Gain | - |
| AFG3L2 | - | - | - | - | 3 | Gain | - |
| AFMID | p.G71S | Missense | SNP | 0.442 | 2 | - | - |
| AGAP2 | p.V630M | Missense | SNP | 0.504 | 2 | - | - |
| AGAP4 | - | - | - | - | 3 | Gain | - |
| AGAP5 | - | - | - | - | 3 | Gain | - |
| AGAP6 | - | - | - | - | 3 | Gain | - |
| AGAP9 | - | - | - | - | 3 | Gain | - |
| AGL | p.N1304Kfs*7 | Frame_Shift_Ins | INS | 0.271 | 2 | - | - |
| AGO1 | p.L17Cfs*99 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
| AHCYL1 | p.R433Q | Missense | SNP | 0.386 | 2 | - | - |
| AHRR | p.R401M | Missense | SNP | 0.500 | 2 | - | - |
| AIF1 | p.P137H | Missense | SNP | 0.537 | 2 | - | - |
| AIFM2 | - | - | - | - | 3 | Gain | - |
| AIM1 | p.P734L | Missense | SNP | 0.517 | ND | ND | - |
| AKAIN1 | - | - | - | - | 3 | Gain | - |
| AKAP9 | p.K39Rfs*17 p.V3673A | Frame_Shift_Del Missense | DEL SNP | 0.446 0.454 | 2 | - | - |
| AKR1B1 | p.A209T | Missense | SNP | 0.500 | 2 | - | - |
| AKR1C1 | - | - | - | - | 3 | Gain | - |
| AKR1C2 | - | - | - | - | 3 | Gain | - |
| AKR1C3 | - | - | - | - | 3 | Gain | - |
| AKR1C4 | - | - | - | - | 3 | Gain | - |
| AKR1C8P | - | - | - | - | 3 | Gain | - |
| AKR1E2 | - | - | - | - | 3 | Gain | - |
| AL117339.5 | - | - | - | - | 3 | Gain | - |
| AL133352.1 | - | - | - | - | 3 | Gain | - |
| AL133353.2 | - | - | - | - | 3 | Gain | - |
| AL157392.5 | - | - | - | - | 3 | Gain | - |
| AL355075.4 | - | - | - | - | ND | ND | AL355075.4--HIST1H1E |
| AL355315.1 | - | - | - | - | 3 | Gain | - |
| AL356053.1 | p.I188* | Frame_Shift_Del | DEL | 0.318 | ND | ND | - |
| AL360181.3 | - | - | - | - | 3 | Gain | - |
| AL365273.2 | - | - | - | - | 3 | Gain | - |
| AL583836.1 | - | - | - | - | 3 | Gain | - |
| ALDH18A1 | - | - | - | - | 3 | Gain | - |
| ALDH1A2 | p.R85C | Missense | SNP | 0.522 | 2 | - | - |
| ALDH3B2 | p.L213M | Missense | SNP | 0.484 | 2 | - | - |
| ALDOC | p.R22Q | Missense | SNP | 0.493 | 2 | - | - |
| ALKBH4 | p.C267Y | Missense | SNP | 0.552 | 2 | - | - |
| ALOX5 | - | - | - | - | 3 | Gain | - |
| ALPK2 | - | - | - | - | 3 | Gain | - |
| ALS2CR11 | p.N837Ifs*9 p.K729Nfs*4 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.528 0.516 | ND | ND | - |
| ALX1 | p.E146K | Missense | SNP | 0.650 | 2 | - | - |
| AMT | p.L155I | Missense | SNP | 0.533 | 2 | - | - |
| ANAPC16 | - | - | - | - | 3 | Gain | - |
| ANK2 | p.A1819V | Missense | SNP | 0.468 | 2 | - | - |
| ANK3 | - | - | - | - | 3 | Gain | - |
| ANKEF1 | p.G295D | Missense | SNP | 0.571 | 2 | - | - |
| ANKFN1 | p.R763K | Missense | SNP | 0.511 | 2 | - | - |
| ANKRD1 | - | - | - | - | 3 | Gain | - |
| ANKRD11 | p.A2265Pfs*72 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| ANKRD12 | - | - | - | - | 3 | Gain | - |
| ANKRD16 | - | - | - | - | 3 | Gain | - |
| ANKRD2 | - | - | - | - | 3 | Gain | - |
| ANKRD22 | - | - | - | - | 3 | Gain | - |
| ANKRD26 | - | - | - | - | 3 | Gain | - |
| ANKRD27 | p.H464Y | Missense | SNP | 0.564 | 2 | - | - |
| ANKRD29 | - | - | - | - | 3 | Gain | - |
| ANKRD30A | - | - | - | - | 3 | Gain | - |
| ANKRD30B | - | - | - | - | 3 | Gain | - |
| ANKRD31 | p.G512Vfs*20 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
| ANKRD62 | - | - | - | - | 3 | Gain | - |
| ANKS3 | p.R550H | Missense | SNP | 0.343 | 2 | - | - |
| ANO6 | p.V698I | Missense | SNP | 0.582 | 2 | - | - |
| ANTXRL | - | - | - | - | 3 | Gain | - |
| ANXA11 | - | - | - | - | 3 | Gain | - |
| ANXA7 | - | - | - | - | 3 | Gain | - |
| ANXA8 | - | - | - | - | 3 | Gain | - |
| ANXA8L1 | - | - | - | - | 3 | Gain | - |
| AOC1 | p.R190Gfs*18 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| AP1G1 | p.R8W | Missense | SNP | 0.497 | 2 | - | - |
| AP1S1 | p.D122Mfs*11 | Frame_Shift_Del | DEL | 0.118 | 2 | - | - |
| AP2A2 | p.P670Lfs*67 p.A376T | Frame_Shift_Del Missense | DEL SNP | 0.556 0.476 | 2 | - | - |
| AP3B1 | p.I597Yfs*3 | Frame_Shift_Del | DEL | 0.276 | 2 | - | - |
| AP3M1 | - | - | - | - | 3 | Gain | - |
| APBB1IP | - | - | - | - | 3 | Gain | - |
| APC | p.E902K p.P1604L | Missense Missense | SNP SNP | 0.492 0.485 | 2 | - | - |
| APCDD1 | - | - | - | - | 3 | Gain | - |
| APOBR | p.G267C | Missense | SNP | 0.587 | 2 | - | - |
| APOL2 | p.R87Q | Missense | SNP | 0.363 | 2 | - | - |
| AQP2 | p.T125M | Missense | SNP | 0.490 | 2 | - | - |
| AQP4 | - | - | - | - | 3 | Gain | - |
| ARAP2 | p.A469T p.G250* | Missense Nonsense | SNP SNP | 0.500 0.506 | 2 | - | - |
| ARGLU1 | p.R45H p.A186T | Missense Missense | SNP SNP | 0.454 0.537 | 2 | - | - |
| ARHGAP12 | - | - | - | - | 3 | Gain | - |
| ARHGAP19 | - | - | - | - | 3 | Gain | - |
| ARHGAP19-SLIT1 | - | - | - | - | 3 | Gain | - |
| ARHGAP21 | - | - | - | - | 3 | Gain | - |
| ARHGAP22 | - | - | - | - | 3 | Gain | - |
| ARHGAP28 | - | - | - | - | 3 | Gain | - |
| ARHGAP39 | p.V443I | Missense | SNP | 0.439 | 2 | - | - |
| ARHGAP5 | p.F935Lfs*5 | Frame_Shift_Del | DEL | 0.064 | 2 | - | - |
| ARHGAP6 | p.G745R p.R433Q | Missense Missense | SNP SNP | 0.553 0.459 | ND | ND | - |
| ARHGEF1 | p.D382N | Missense | SNP | 0.391 | 2 | - | - |
| ARHGEF10L | p.T495M | Missense | SNP | 0.385 | 2 | - | - |
| ARHGEF40 | p.R1076Gfs*18 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
| ARID1A | p.P1175Hfs*5 p.D1850Gfs*4 p.X751_splice | Frame_Shift_Del Frame_Shift_Ins Splice_Site | DEL INS SNP | 0.476 0.337 0.494 | 2 | - | - |
| ARID1B | p.Q1810* | Nonsense | SNP | 0.512 | 2 | - | - |
| ARID3A | p.X499_splice | Splice_Site | SNP | 0.535 | 2 | - | - |
| ARID4B | p.Q1041* | Nonsense | SNP | 0.491 | 2 | - | - |
| ARID5B | - | - | - | - | 3 | Gain | - |
| ARL17A | - | - | - | - | 1 | Loss | - |
| ARL17B | - | - | - | - | 1 | Loss | - |
| ARL2 | p.R78Q | Missense | SNP | 0.473 | 2 | - | - |
| ARL3 | - | - | - | - | 3 | Gain | - |
| ARL5B | - | - | - | - | 3 | Gain | - |
| ARMC3 | - | - | - | - | 3 | Gain | - |
| ARMC4 | - | - | - | - | 3 | Gain | - |
| ARMH3 | - | - | - | - | 3 | Gain | - |
| ARMS2 | - | - | - | - | 3 | Gain | - |
| AS3MT | - | - | - | - | 3 | Gain | - |
| ASAH2 | - | - | - | - | 3 | Gain | - |
| ASAH2B | - | - | - | - | 3 | Gain | - |
| ASB11 | p.L32Ffs*14 | Frame_Shift_Ins | INS | 0.379 | ND | ND | - |
| ASB13 | - | - | - | - | 3 | Gain | - |
| ASCC1 | - | - | - | - | 3 | Gain | - |
| ASH1L | p.I1341N | Missense | SNP | 0.504 | 2 | - | - |
| ASXL3 | - | - | - | - | 3 | Gain | - |
| ATAD1 | - | - | - | - | 3 | Gain | - |
| ATE1 | - | - | - | - | 3 | Gain | - |
| ATM | p.S214Pfs*16 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
| ATOH7 | - | - | - | - | 3 | Gain | - |
| ATP5F1A | - | - | - | - | 3 | Gain | - |
| ATP5F1C | - | - | - | - | 3 | Gain | - |
| ATP5F1E | - | - | - | - | 2 | - | SNHG1--ATP5F1E |
| ATP5MD | - | - | - | - | 3 | Gain | - |
| ATP6V1D | p.R30Q | Missense | SNP | 0.546 | 2 | - | - |
| ATP8A1 | p.R725H | Missense | SNP | 0.504 | 2 | - | - |
| ATP8A2 | p.V506M | Missense | SNP | 0.496 | 2 | - | - |
| ATP8B1 | - | - | - | - | 3 | Gain | - |
| ATP9B | - | - | - | - | 3 | Gain | - |
| ATRNL1 | - | - | - | - | 3 | Gain | - |
| ATRX | p.V608I | Missense | SNP | 0.059 | ND | ND | - |
| ATXN7 | p.P176L | Missense | SNP | 0.329 | 2 | - | - |
| AVIL | p.G118Vfs*6 p.T480M | Frame_Shift_Del Missense | DEL SNP | 0.449 0.476 | 2 | - | - |
| AVL9 | p.G397A | Missense | SNP | 0.403 | 2 | - | - |
| AVPI1 | - | - | - | - | 3 | Gain | - |
| AVPR1B | p.D104N | Missense | SNP | 0.450 | 2 | - | - |
| B3GNT6 | p.G221D | Missense | SNP | 0.547 | 2 | - | - |
| B4GALNT4 | p.T982M | Missense | SNP | 0.508 | 2 | - | - |
| B4GALT6 | - | - | - | - | 3 | Gain | - |
| BAG3 | - | - | - | - | 3 | Gain | - |
| BAHCC1 | p.G1603R | Missense | SNP | 0.516 | 2 | - | - |
| BAIAP2L2 | p.V396M | Missense | SNP | 0.438 | 2 | - | - |
| BAMBI | - | - | - | - | 3 | Gain | - |
| BANP | p.A232T | Missense | SNP | 0.519 | 2 | - | - |
| BBIP1 | - | - | - | - | 3 | Gain | - |
| BCCIP | - | - | - | - | 3 | Gain | - |
| BCHE | p.N134Mfs*5 | Frame_Shift_Del | DEL | 0.403 | 2 | - | - |
| BCKDHA | p.T211M | Missense | SNP | 0.450 | 2 | - | - |
| BCL11A | p.L360Sfs*61 | Frame_Shift_Del | DEL | 0.145 | 2 | - | - |
| BCL2 | - | - | - | - | 3 | Gain | - |
| BCL9 | p.P516Lfs*5 | Frame_Shift_Del | DEL | 0.532 | 2 | - | - |
| BCL9L | p.P1127Hfs*21 p.A77Gfs*14 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.509 0.329 | 2 | - | - |
| BCR | p.R232W | Missense | SNP | 0.452 | 2 | - | - |
| BEND7 | - | - | - | - | 3 | Gain | - |
| BICC1 | - | - | - | - | 3 | Gain | - |
| BIN3 | p.K113Sfs*13 | Frame_Shift_Del | DEL | 0.306 | 2 | - | - |
| BIRC7 | p.Q54* | Nonsense | SNP | 0.483 | 2 | - | - |
| BLNK | - | - | - | - | 3 | Gain | - |
| BLOC1S2 | - | - | - | - | 3 | Gain | - |
| BMI1 | - | - | - | - | 3 | Gain | - |
| BMPR1A | - | - | - | - | 3 | Gain | - |
| BMS1 | - | - | - | - | 3 | Gain | - |
| BNIP3 | - | - | - | - | 3 | Gain | - |
| BOD1L2 | - | - | - | - | 3 | Gain | - |
| BOP1 | - | - | - | - | 1 | Loss | - |
| BORCS7 | - | - | - | - | 3 | Gain | - |
| BORCS7-ASMT | - | - | - | - | 3 | Gain | - |
| BPIFB4 | p.V74Sfs*9 p.R289W | Frame_Shift_Ins Missense | INS SNP | 0.273 0.465 | 2 | - | - |
| BRAT1 | p.G413Afs*34 | Frame_Shift_Del | DEL | 0.364 | 2 | - | - |
| BRD4 | p.R444C | Missense | SNP | 0.529 | 2 | - | - |
| BRPF1 | p.Q938Sfs*5 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
| BTAF1 | - | - | - | - | 3 | Gain | - |
| BTBD16 | - | - | - | - | 3 | Gain | - |
| BTRC | - | - | - | - | 3 | Gain | - |
| BUB3 | - | - | - | - | 3 | Gain | - |
| BVES | p.H320Y | Missense | SNP | 0.080 | 2 | - | - |
| C10orf105 | - | - | - | - | 3 | Gain | - |
| C10orf113 | - | - | - | - | 3 | Gain | - |
| C10orf120 | - | - | - | - | 3 | Gain | - |
| C10orf53 | - | - | - | - | 3 | Gain | - |
| C10orf55 | - | - | - | - | 3 | Gain | - |
| C10orf62 | - | - | - | - | 3 | Gain | - |
| C10orf67 | - | - | - | - | 3 | Gain | - |
| C10orf71 | - | - | - | - | 3 | Gain | - |
| C10orf82 | - | - | - | - | 3 | Gain | - |
| C10orf88 | - | - | - | - | 3 | Gain | - |
| C10orf90 | - | - | - | - | 3 | Gain | - |
| C10orf99 | - | - | - | - | 3 | Gain | - |
| C17orf74 | p.P442Rfs*25 | Frame_Shift_Del | DEL | 0.469 | ND | ND | - |
| C18orf21 | - | - | - | - | 3 | Gain | - |
| C18orf25 | - | - | - | - | 3 | Gain | - |
| C18orf32 | - | - | - | - | 3 | Gain | - |
| C18orf54 | - | - | - | - | 3 | Gain | - |
| C18orf63 | - | - | - | - | 3 | Gain | - |
| C18orf8 | p.C394Hfs*4 | Frame_Shift_Del | DEL | 0.526 | ND | ND | - |
| C1D | p.N120Mfs*61 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
| C1QB | p.C31Y | Missense | SNP | 0.400 | 2 | - | - |
| C1QL3 | p.R180H | Missense | SNP | 0.321 | 3 | Gain | - |
| C21orf58 | p.T203M | Missense | SNP | 0.522 | 2 | - | - |
| C6orf89 | p.Q61Afs*10 | Frame_Shift_Ins | INS | 0.271 | 2 | - | - |
| CABCOCO1 | - | - | - | - | 3 | Gain | - |
| CABLES1 | - | - | - | - | 3 | Gain | - |
| CABYR | - | - | - | - | 3 | Gain | - |
| CACNA1E | p.R1594H | Missense | SNP | 0.487 | 2 | - | - |
| CACNA1I | p.P665L | Missense | SNP | 0.591 | 2 | - | - |
| CACNA2D3 | p.A1023S | Missense | SNP | 0.345 | 2 | - | - |
| CACNA2D4 | p.R441H | Missense | SNP | 0.165 | 2 | - | - |
| CACNB2 | p.T254M p.R608H | Missense Missense | SNP SNP | 0.343 0.690 | 3 | Gain | - |
| CACUL1 | - | - | - | - | 3 | Gain | - |
| CAD | p.R2064C | Missense | SNP | 0.408 | 2 | - | - |
| CALCRL | p.F16Lfs*2 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
| CALHM1 | - | - | - | - | 3 | Gain | - |
| CALHM2 | - | - | - | - | 3 | Gain | - |
| CALHM3 | - | - | - | - | 3 | Gain | - |
| CALML3 | - | - | - | - | 3 | Gain | - |
| CALML5 | - | - | - | - | 3 | Gain | - |
| CALY | - | - | - | - | 3 | Gain | - |
| CAMK1D | - | - | - | - | 3 | Gain | - |
| CAMK2B | p.A558V | Missense | SNP | 0.343 | 2 | - | - |
| CAMK2G | - | - | - | - | 3 | Gain | - |
| CAMKK1 | p.R510* | Nonsense | SNP | 0.433 | 2 | - | - |
| CAMSAP2 | p.R1179W | Missense | SNP | 0.471 | 2 | - | - |
| CAMTA2 | p.P889Lfs*9 p.P547L | Frame_Shift_Del Missense | DEL SNP | 0.471 0.519 | 2 | - | - |
| CANX | p.R274H | Missense | SNP | 0.465 | 2 | - | - |
| CARD14 | p.E929K | Missense | SNP | 0.512 | 2 | - | - |
| CARS | p.R453L | Missense | SNP | 0.459 | 2 | - | - |
| CASC1 | p.I554M | Missense | SNP | 0.460 | 2 | - | - |
| CASC10 | - | - | - | - | 3 | Gain | - |
| CASP7 | - | - | - | - | 3 | Gain | - |
| CASS4 | p.R67H | Missense | SNP | 0.436 | 2 | - | - |
| CASZ1 | p.T715M | Missense | SNP | 0.511 | 2 | - | - |
| CATIP | p.A255T | Missense | SNP | 0.490 | 2 | - | - |
| CBFA2T2 | p.E402D | Missense | SNP | 0.462 | 2 | - | - |
| CBLN2 | - | - | - | - | 3 | Gain | - |
| CC2D2B | - | - | - | - | 3 | Gain | - |
| CCAR1 | p.Q596* | Nonsense | SNP | 0.379 | 3 | Gain | - |
| CCBE1 | p.V92I | Missense | SNP | 0.341 | 3 | Gain | - |
| CCDC102B | p.I270Nfs*31 | Frame_Shift_Ins | INS | 0.372 | 3 | Gain | - |
| CCDC150 | p.R971Q | Missense | SNP | 0.489 | 2 | - | - |
| CCDC153 | p.P200Lfs*4 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
| CCDC168 | p.Q3471Tfs*12 p.N2569Kfs*26 | Frame_Shift_Ins Frame_Shift_Ins | INS INS | 0.303 0.285 | 2 | - | - |
| CCDC172 | - | - | - | - | 3 | Gain | - |
| CCDC178 | - | - | - | - | 3 | Gain | - |
| CCDC186 | - | - | - | - | 3 | Gain | - |
| CCDC191 | p.E82D | Missense | SNP | 0.556 | 2 | - | - |
| CCDC3 | - | - | - | - | 3 | Gain | - |
| CCDC6 | - | - | - | - | 3 | Gain | - |
| CCDC68 | - | - | - | - | 3 | Gain | - |
| CCDC7 | - | - | - | - | 3 | Gain | - |
| CCDC74B | - | - | - | - | 1 | Loss | - |
| CCDC96 | p.R524H | Missense | SNP | 0.525 | 2 | - | - |
| CCER2 | p.E232del | In_Frame_Del | DEL | 0.422 | 2 | - | - |
| CCNJ | - | - | - | - | 3 | Gain | - |
| CCNY | - | - | - | - | 3 | Gain | - |
| CCR7 | p.A238V | Missense | SNP | 0.514 | 2 | - | - |
| CCSER2 | - | - | - | - | 3 | Gain | - |
| CCT2 | p.R376C | Missense | SNP | 0.404 | 2 | - | - |
| CD163L1 | p.P890L p.V721M | Missense Missense | SNP SNP | 0.498 0.137 | 2 | - | - |
| CD19 | p.X120_splice | Splice_Site | DEL | 0.529 | 2 | - | - |
| CD226 | - | - | - | - | 3 | Gain | - |
| CD55 | p.T363M | Missense | SNP | 0.584 | 2 | - | - |
| CD79A | p.R131Gfs*61 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
| CDC123 | - | - | - | - | 3 | Gain | - |
| CDC42EP4 | p.V144M | Missense | SNP | 0.464 | 2 | - | - |
| CDH17 | p.S645Lfs*3 | Frame_Shift_Del | DEL | 0.378 | 2 | - | - |
| CDH19 | - | - | - | - | 3 | Gain | - |
| CDH2 | - | - | - | - | 3 | Gain | - |
| CDH20 | - | - | - | - | 3 | Gain | - |
| CDH23 | - | - | - | - | 3 | Gain | - |
| CDH7 | p.R264Q | Missense | SNP | 0.706 | 3 | Gain | - |
| CDHR1 | - | - | - | - | 3 | Gain | - |
| CDK1 | - | - | - | - | 3 | Gain | - |
| CDK19 | p.S62L | Missense | SNP | 0.481 | 2 | - | - |
| CDKN2B | p.L93Pfs*70 | Frame_Shift_Ins | INS | 0.327 | 2 | - | - |
| CDNF | - | - | - | - | 3 | Gain | - |
| CDS1 | p.F263Lfs*6 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
| CDYL | p.D296Y | Missense | SNP | 0.096 | 2 | - | - |
| CELF2 | - | - | - | - | 3 | Gain | - |
| CELF3 | p.V279I | Missense | SNP | 0.557 | 2 | - | - |
| CELF4 | - | - | - | - | 3 | Gain | - |
| CELSR3 | p.R1336H | Missense | SNP | 0.506 | 2 | - | - |
| CEP192 | p.R763C | Missense | SNP | 0.355 | 3 | Gain | - |
| CEP250 | p.V728I | Missense | SNP | 0.491 | 2 | - | - |
| CEP55 | - | - | - | - | 3 | Gain | - |
| CEP76 | - | - | - | - | 3 | Gain | - |
| CEP85 | p.T746I | Missense | SNP | 0.442 | 2 | - | - |
| CETN1 | - | - | - | - | 3 | Gain | - |
| CFAP43 | - | - | - | - | 3 | Gain | - |
| CFAP45 | p.R403H | Missense | SNP | 0.475 | 2 | - | - |
| CFAP46 | - | - | - | - | 3 | Gain | - |
| CFAP53 | p.F148L | Missense | SNP | 0.653 | 3 | Gain | - |
| CFAP58 | - | - | - | - | 3 | Gain | - |
| CFAP70 | - | - | - | - | 3 | Gain | - |
| CH25H | - | - | - | - | 3 | Gain | - |
| CH507-42P11.8 | p.R587Q | Missense | SNP | 0.530 | ND | ND | - |
| CHAT | - | - | - | - | 3 | Gain | - |
| CHCHD1 | - | - | - | - | 3 | Gain | - |
| CHD7 | p.T1133M | Missense | SNP | 0.453 | 2 | - | - |
| CHIA | p.Q62* | Nonsense | SNP | 0.451 | 2 | - | - |
| CHMP1B | - | - | - | - | 3 | Gain | - |
| CHMP2A | p.C173G | Missense | SNP | 0.523 | 2 | - | - |
| CHRNA6 | p.Y220C | Missense | SNP | 0.456 | 2 | - | - |
| CHRND | p.R244H | Missense | SNP | 0.456 | 2 | - | - |
| CHST15 | - | - | - | - | 3 | Gain | - |
| CHST3 | - | - | - | - | 3 | Gain | - |
| CHST5 | p.A150V | Missense | SNP | 0.500 | 2 | - | - |
| CHST8 | p.R179H | Missense | SNP | 0.455 | 2 | - | - |
| CHST9 | - | - | - | - | 3 | Gain | - |
| CHUK | - | - | - | - | 3 | Gain | - |
| CIDEA | - | - | - | - | 3 | Gain | - |
| CILP | p.G3R | Missense | SNP | 0.445 | 2 | - | - |
| CILP2 | p.R336* | Nonsense | SNP | 0.514 | 2 | - | - |
| CISD1 | - | - | - | - | 3 | Gain | - |
| CLDN6 | p.A102T | Missense | SNP | 0.342 | 2 | - | - |
| CLP1 | p.R302H | Missense | SNP | 0.484 | 2 | - | - |
| CLRN3 | - | - | - | - | 3 | Gain | - |
| CLUL1 | - | - | - | - | 3 | Gain | - |
| CNDP1 | - | - | - | - | 3 | Gain | - |
| CNDP2 | - | - | - | - | 3 | Gain | - |
| CNNM1 | - | - | - | - | 3 | Gain | - |
| CNNM2 | - | - | - | - | 3 | Gain | - |
| CNOT1 | p.R1929* | Nonsense | SNP | 0.370 | 2 | - | - |
| CNOT10 | p.X754_splice | Splice_Site | SNP | 0.412 | 2 | - | - |
| COG3 | p.V465I | Missense | SNP | 0.500 | 2 | - | - |
| COL11A1 | p.P546Lfs*87 p.V1658I | Frame_Shift_Del Missense | DEL SNP | 0.372 0.537 | 2 | - | - |
| COL13A1 | - | - | - | - | 3 | Gain | - |
| COL17A1 | p.P1157S p.R177Q | Missense Missense | SNP SNP | 0.094 0.299 | 3 | Gain | - |
| COL18A1 | p.P772Qfs*16 | Frame_Shift_Del | DEL | 0.570 | 2 | - | - |
| COL21A1 | p.G632Rfs*24 | Frame_Shift_Ins | INS | 0.314 | 2 | - | - |
| COL22A1 | p.P727L | Missense | SNP | 0.472 | 2 | - | - |
| COL3A1 | p.K275Rfs*9 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
| COL6A2 | p.R734C | Missense | SNP | 0.491 | 2 | - | - |
| COL6A6 | p.E1487G | Missense | SNP | 0.532 | 2 | - | - |
| COL7A1 | p.G2025A | Missense | SNP | 0.112 | 2 | - | - |
| COL8A2 | p.P94Lfs*143 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
| COLEC12 | - | - | - | - | 3 | Gain | - |
| COMMD3 | - | - | - | - | 3 | Gain | - |
| COMMD3-BMI1 | - | - | - | - | 3 | Gain | - |
| COMP | p.P416L | Missense | SNP | 0.470 | 2 | - | - |
| COMTD1 | - | - | - | - | 3 | Gain | - |
| COPS8 | p.A117T | Missense | SNP | 0.483 | 2 | - | - |
| COQ6 | p.P373L | Missense | SNP | 0.493 | 2 | - | - |
| CORO7 | p.S433I | Missense | SNP | 0.634 | 2 | - | - |
| COX15 | - | - | - | - | 3 | Gain | - |
| CPA6 | p.L310I | Missense | SNP | 0.519 | 2 | - | - |
| CPAMD8 | p.V1068Wfs*111 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
| CPEB3 | - | - | - | - | 3 | Gain | - |
| CPLX4 | - | - | - | - | 3 | Gain | - |
| CPN1 | - | - | - | - | 3 | Gain | - |
| CPNE8 | p.V396Sfs*9 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
| CPS1 | p.K133N | Missense | SNP | 0.516 | 2 | - | - |
| CPSF3 | p.E31K | Missense | SNP | 0.526 | 2 | - | - |
| CPSF4 | p.R238W | Missense | SNP | 0.413 | 2 | - | - |
| CPSF6 | p.V156Cfs*6 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
| CPXM2 | - | - | - | - | 3 | Gain | - |
| CREBBP | p.S1680del | In_Frame_Del | DEL | 0.482 | 2 | - | - |
| CREM | - | - | - | - | 3 | Gain | - |
| CRTAC1 | - | - | - | - | 3 | Gain | - |
| CRY2 | p.R362H | Missense | SNP | 0.513 | 2 | - | - |
| CSGALNACT2 | - | - | - | - | 3 | Gain | - |
| CSNK1E | p.T235M | Missense | SNP | 0.475 | 2 | - | - |
| CSPG4 | p.A1018T | Missense | SNP | 0.625 | 2 | - | - |
| CSRNP1 | p.G476D | Missense | SNP | 0.476 | 2 | - | - |
| CST2 | p.R46H | Missense | SNP | 0.528 | 2 | - | - |
| CSTF2T | - | - | - | - | 3 | Gain | - |
| CTAGE1 | - | - | - | - | 3 | Gain | - |
| CTBP2 | p.R759Q p.A602T | Missense Missense | SNP SNP | 0.356 0.386 | 3 | Gain | - |
| CTDP1 | - | - | - | - | 3 | Gain | - |
| CTIF | - | - | - | - | 3 | Gain | - |
| CTNNA3 | - | - | - | - | 3 | Gain | - |
| CTNND2 | p.P524L | Missense | SNP | 0.487 | 2 | - | - |
| CTSF | p.V474M | Missense | SNP | 0.500 | 2 | - | - |
| CUBN | p.S2214N | Missense | SNP | 0.051 | 3 | Gain | - |
| CUEDC2 | - | - | - | - | 3 | Gain | - |
| CUL2 | - | - | - | - | 3 | Gain | - |
| CUL3 | p.R128H | Missense | SNP | 0.397 | 2 | - | - |
| CUTC | - | - | - | - | 3 | Gain | - |
| CUZD1 | - | - | - | - | 3 | Gain | - |
| CWC27 | p.V335* | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
| CWF19L1 | - | - | - | - | 3 | Gain | - |
| CXCL12 | - | - | - | - | 3 | Gain | - |
| CXorf56 | p.A62V | Missense | SNP | 0.471 | ND | ND | - |
| CXXC1 | - | - | - | - | 3 | Gain | - |
| CYB5A | - | - | - | - | 3 | Gain | - |
| CYP17A1 | - | - | - | - | 3 | Gain | - |
| CYP26A1 | - | - | - | - | 3 | Gain | - |
| CYP26C1 | - | - | - | - | 3 | Gain | - |
| CYP2C18 | - | - | - | - | 3 | Gain | - |
| CYP2C19 | - | - | - | - | 3 | Gain | - |
| CYP2C8 | - | - | - | - | 3 | Gain | - |
| CYP2C9 | - | - | - | - | 3 | Gain | - |
| CYP2E1 | - | - | - | - | 3 | Gain | - |
| DAB1 | p.G342D | Missense | SNP | 0.504 | 2 | - | - |
| DAPK1 | p.R730M | Missense | SNP | 0.532 | 2 | - | - |
| DAPP1 | p.S73Cfs*8 | Frame_Shift_Del | DEL | 0.454 | 2 | - | - |
| DBF4 | p.L409Afs*14 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
| DCC | - | - | - | - | 3 | Gain | - |
| DCHS1 | p.R2892Q | Missense | SNP | 0.467 | 2 | - | - |
| DCHS2 | p.S968R | Missense | SNP | 0.482 | 2 | - | - |
| DCLRE1A | - | - | - | - | 3 | Gain | - |
| DCLRE1C | - | - | - | - | 3 | Gain | - |
| DCN | p.T151Nfs*9 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
| DDAH2 | p.V201M | Missense | SNP | 0.472 | 2 | - | - |
| DDIT4 | - | - | - | - | 3 | Gain | - |
| DDX17 | p.R439H | Missense | SNP | 0.433 | 2 | - | - |
| DDX21 | - | - | - | - | 3 | Gain | - |
| DDX50 | - | - | - | - | 3 | Gain | - |
| DDX52 | p.E518A | Missense | SNP | 0.548 | 2 | - | - |
| DDX59 | p.N577Ifs*6 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
| DDX60L | p.Y1625H | Missense | SNP | 0.431 | 2 | - | - |
| DEPP1 | - | - | - | - | 3 | Gain | - |
| DET1 | p.R218H | Missense | SNP | 0.504 | 2 | - | - |
| DGKH | p.R273H | Missense | SNP | 0.473 | 2 | - | - |
| DGKI | p.R791H | Missense | SNP | 0.421 | 2 | - | - |
| DHRS12 | p.H120Y | Missense | SNP | 0.381 | 2 | - | - |
| DHTKD1 | - | - | - | - | 3 | Gain | - |
| DHX32 | - | - | - | - | 3 | Gain | - |
| DIP2C | - | - | - | - | 3 | Gain | - |
| DKK1 | - | - | - | - | 3 | Gain | - |
| DLG5 | - | - | - | - | 3 | Gain | - |
| DLGAP1 | - | - | - | - | 3 | Gain | - |
| DMBT1 | - | - | - | - | 3 | Gain | - |
| DMD | p.N3378Tfs*24 | Frame_Shift_Del | DEL | 0.469 | ND | ND | - |
| DNA2 | - | - | - | - | 3 | Gain | - |
| DNAH17 | p.D1228N | Missense | SNP | 0.378 | 2 | - | - |
| DNAH5 | p.A244T | Missense | SNP | 0.456 | 2 | - | - |
| DNAJB12 | - | - | - | - | 3 | Gain | - |
| DNAJC1 | - | - | - | - | 3 | Gain | - |
| DNAJC11 | p.R273* | Nonsense | SNP | 0.523 | 2 | - | - |
| DNAJC12 | - | - | - | - | 3 | Gain | - |
| DNAJC9 | - | - | - | - | 3 | Gain | - |
| DNMBP | - | - | - | - | 3 | Gain | - |
| DNMT3B | p.R538H | Missense | SNP | 0.534 | 2 | - | - |
| DNTT | - | - | - | - | 3 | Gain | - |
| DOC2A | p.K312del | In_Frame_Del | DEL | 0.438 | 2 | - | - |
| DOCK1 | - | - | - | - | 3 | Gain | - |
| DOCK11 | p.Y2012* | Nonsense | SNP | 0.471 | ND | ND | - |
| DOCK7 | p.P526L | Missense | SNP | 0.475 | 2 | - | - |
| DOK1 | p.V175M | Missense | SNP | 0.439 | 2 | - | - |
| DOK6 | - | - | - | - | 3 | Gain | - |
| DONSON | p.R27Q | Missense | SNP | 0.441 | 2 | - | - |
| DPCD | - | - | - | - | 3 | Gain | - |
| DPRX | p.V95Sfs*7 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
| DPYSL2 | p.F20Lfs*104 p.R481H | Frame_Shift_Del Missense | DEL SNP | 0.467 0.495 | 2 | - | - |
| DPYSL4 | - | - | - | - | 3 | Gain | - |
| DRGX | - | - | - | - | 3 | Gain | - |
| DROSHA | p.R254H | Missense | SNP | 0.520 | 2 | - | - |
| DSC1 | p.A574T | Missense | SNP | 0.282 | 3 | Gain | - |
| DSC2 | - | - | - | - | 3 | Gain | - |
| DSC3 | - | - | - | - | 3 | Gain | - |
| DSEL | - | - | - | - | 3 | Gain | - |
| DSG1 | - | - | - | - | 3 | Gain | - |
| DSG2 | - | - | - | - | 3 | Gain | - |
| DSG3 | - | - | - | - | 3 | Gain | - |
| DSG4 | - | - | - | - | 3 | Gain | - |
| DSP | p.R866C p.R1915C | Missense Missense | SNP SNP | 0.516 0.510 | 2 | - | - |
| DSTYK | p.L732del | In_Frame_Del | DEL | 0.509 | 2 | - | - |
| DTNA | p.A498Qfs*40 | Frame_Shift_Del | DEL | 0.651 | 3 | Gain | - |
| DTX4 | p.G510Afs*35 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
| DUPD1 | - | - | - | - | 3 | Gain | - |
| DUS3L | p.V440I | Missense | SNP | 0.558 | 2 | - | - |
| DUSP13 | - | - | - | - | 3 | Gain | - |
| DUSP5 | - | - | - | - | 3 | Gain | - |
| DUSP7 | p.G42E | Missense | SNP | 0.571 | 2 | - | - |
| DYDC1 | - | - | - | - | 3 | Gain | - |
| DYDC2 | - | - | - | - | 3 | Gain | - |
| DYM | - | - | - | - | 3 | Gain | - |
| DYNAP | - | - | - | - | 3 | Gain | - |
| DYNC1H1 | p.R2831H | Missense | SNP | 0.525 | 2 | - | - |
| DYRK1A | p.X317_splice | Splice_Site | DEL | 0.434 | 2 | - | - |
| EBF3 | - | - | - | - | 3 | Gain | - |
| EBF4 | p.A553T | Missense | SNP | 0.481 | 2 | - | - |
| EBLN1 | - | - | - | - | 3 | Gain | - |
| ECD | - | - | - | - | 3 | Gain | - |
| ECHDC3 | - | - | - | - | 3 | Gain | - |
| ECHS1 | - | - | - | - | 3 | Gain | - |
| ECI1 | p.T268M | Missense | SNP | 0.433 | 2 | - | - |
| EDRF1 | p.N302Mfs*47 | Frame_Shift_Del | DEL | 0.555 | 3 | Gain | - |
| EEF1AKMT2 | - | - | - | - | 3 | Gain | - |
| EFHC2 | p.E202D | Missense | SNP | 0.587 | ND | ND | - |
| EFNB3 | p.Q331Rfs*39 | Frame_Shift_Del | DEL | 0.546 | 2 | - | - |
| EGR2 | - | - | - | - | 3 | Gain | - |
| EHBP1L1 | p.R50H | Missense | SNP | 0.543 | 2 | - | - |
| EIF3A | - | - | - | - | 3 | Gain | - |
| EIF4EBP2 | - | - | - | - | 3 | Gain | - |
| EIF4G3 | p.V563Sfs*12 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
| EIF5AL1 | - | - | - | - | 3 | Gain | - |
| ELAC1 | - | - | - | - | 3 | Gain | - |
| ELAC2 | p.A272T | Missense | SNP | 0.559 | 2 | - | - |
| ELF4 | p.Q341Rfs*30 | Frame_Shift_Del | DEL | 0.464 | ND | ND | - |
| ELMO1 | p.G674R | Missense | SNP | 0.569 | 2 | - | - |
| ELOA2 | - | - | - | - | 3 | Gain | - |
| ELOA3 | - | - | - | - | 3 | Gain | - |
| ELOA3B | - | - | - | - | 3 | Gain | - |
| ELOA3D | - | - | - | - | 3 | Gain | - |
| ELOVL3 | - | - | - | - | 3 | Gain | - |
| ELOVL7 | p.R115C | Missense | SNP | 0.548 | 2 | - | - |
| ELP2 | - | - | - | - | 3 | Gain | - |
| EMILIN2 | - | - | - | - | 3 | Gain | - |
| EML6 | p.A1888T | Missense | SNP | 0.594 | 2 | - | - |
| EMX2 | - | - | - | - | 3 | Gain | - |
| ENKUR | - | - | - | - | 3 | Gain | - |
| ENO4 | p.R551C | Missense | SNP | 0.387 | 3 | Gain | - |
| ENOPH1 | p.X29_splice p.A120V | Splice_Site Missense | SNP SNP | 0.406 0.459 | 2 | - | - |
| ENOSF1 | - | - | - | - | 3 | Gain | - |
| ENPP6 | p.R35H | Missense | SNP | 0.457 | 2 | - | - |
| ENTPD1 | - | - | - | - | 3 | Gain | - |
| ENTPD6 | p.G444S | Missense | SNP | 0.523 | 2 | - | - |
| ENTPD7 | - | - | - | - | 3 | Gain | - |
| EPAS1 | p.P334S | Missense | SNP | 0.492 | 2 | - | - |
| EPB41L3 | - | - | - | - | 3 | Gain | - |
| EPC1 | - | - | - | - | 3 | Gain | - |
| EPG5 | - | - | - | - | 3 | Gain | - |
| EPHA2 | p.T526M | Missense | SNP | 0.445 | 2 | - | - |
| EPPIN | p.Y107C | Missense | SNP | 0.414 | 2 | - | - |
| ERBIN | p.D727Ifs*9 p.K988Rfs*24 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.522 0.449 | 2 | - | - |
| ERCC6 | - | - | - | - | 3 | Gain | - |
| ERCC8 | p.A7T | Missense | SNP | 0.469 | 2 | - | - |
| ERICH3 | p.N557I | Missense | SNP | 0.516 | 2 | - | - |
| ERLIN1 | - | - | - | - | 3 | Gain | - |
| ESCO1 | - | - | - | - | 3 | Gain | - |
| ESPL1 | p.A35V | Missense | SNP | 0.426 | 2 | - | - |
| ETV1 | p.T139Hfs*24 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
| EVC2 | p.T699M | Missense | SNP | 0.507 | 2 | - | - |
| EVI2A | p.A150V | Missense | SNP | 0.557 | 2 | - | - |
| EXOC6 | - | - | - | - | 3 | Gain | - |
| EXOSC1 | - | - | - | - | 3 | Gain | - |
| EXPH5 | p.R407M | Missense | SNP | 0.466 | 2 | - | - |
| EXTL1 | p.R31H | Missense | SNP | 0.458 | 2 | - | - |
| EZH1 | p.A379V | Missense | SNP | 0.479 | 2 | - | - |
| F13A1 | p.P565L | Missense | SNP | 0.553 | 2 | - | - |
| FAAP100 | p.L21Pfs*12 | Frame_Shift_Ins | INS | 0.298 | 2 | - | - |
| FAHD2A | p.P281Qfs*26 | Frame_Shift_Del | DEL | 0.292 | 2 | - | - |
| FAM107B | - | - | - | - | 3 | Gain | - |
| FAM111B | p.R94H | Missense | SNP | 0.540 | 2 | - | - |
| FAM118B | p.L217F | Missense | SNP | 0.483 | 2 | - | - |
| FAM129A | p.X392_splice | Splice_Site | SNP | 0.500 | 2 | - | - |
| FAM135A | p.S1485L | Missense | SNP | 0.438 | 2 | - | - |
| FAM13C | - | - | - | - | 3 | Gain | - |
| FAM149B1 | - | - | - | - | 3 | Gain | - |
| FAM160B1 | - | - | - | - | 3 | Gain | - |
| FAM166A | p.L210R | Missense | SNP | 0.513 | 2 | - | - |
| FAM170B | - | - | - | - | 3 | Gain | - |
| FAM171A1 | - | - | - | - | 3 | Gain | - |
| FAM175A | p.N303Ifs*17 | Frame_Shift_Del | DEL | 0.500 | ND | ND | - |
| FAM186B | p.E667K | Missense | SNP | 0.496 | 2 | - | - |
| FAM193A | p.V231Sfs*81 | Frame_Shift_Del | DEL | 0.374 | 2 | - | - |
| FAM193B | p.P574Lfs*11 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
| FAM198B | p.R184W | Missense | SNP | 0.472 | 2 | - | - |
| FAM204A | - | - | - | - | 3 | Gain | - |
| FAM208B | - | - | - | - | 3 | Gain | - |
| FAM210A | - | - | - | - | 3 | Gain | - |
| FAM241B | - | - | - | - | 3 | Gain | - |
| FAM24A | - | - | - | - | 3 | Gain | - |
| FAM24B | - | - | - | - | 3 | Gain | - |
| FAM45A | - | - | - | - | 3 | Gain | - |
| FAM46B | p.R288W | Missense | SNP | 0.458 | ND | ND | - |
| FAM47B | p.A360T | Missense | SNP | 0.472 | ND | ND | - |
| FAM47C | p.A981T | Missense | SNP | 0.464 | ND | ND | - |
| FAM53B | - | - | - | - | 3 | Gain | - |
| FAM69C | - | - | - | - | 3 | Gain | - |
| FAM71E2 | p.P40L | Missense | SNP | 0.508 | 2 | - | - |
| FAM81B | p.G330C | Missense | SNP | 0.401 | 2 | - | - |
| FAM98A | p.K174Nfs*2 | Frame_Shift_Del | DEL | 0.504 | 2 | - | - |
| FANK1 | - | - | - | - | 3 | Gain | - |
| FAS | - | - | - | - | 3 | Gain | - |
| FAT1 | p.D2158Rfs*20 | Frame_Shift_Ins | INS | 0.348 | 2 | - | - |
| FAT3 | p.R1186H | Missense | SNP | 0.627 | 2 | - | - |
| FAT4 | p.A454V | Missense | SNP | 0.469 | 2 | - | - |
| FBH1 | - | - | - | - | 3 | Gain | - |
| FBLN2 | p.R1180C | Missense | SNP | 0.491 | 2 | - | - |
| FBN2 | p.R1068W | Missense | SNP | 0.446 | 2 | - | - |
| FBXL15 | - | - | - | - | 3 | Gain | - |
| FBXL19 | p.L381Yfs*86 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
| FBXO15 | - | - | - | - | 3 | Gain | - |
| FBXW4 | - | - | - | - | 3 | Gain | - |
| FECH | - | - | - | - | 3 | Gain | - |
| FER1L6 | p.I975T | Missense | SNP | 0.442 | 2 | - | - |
| FFAR4 | - | - | - | - | 3 | Gain | - |
| FGD4 | p.R431H | Missense | SNP | 0.530 | 2 | - | - |
| FGF5 | p.G148Efs*45 | Frame_Shift_Del | DEL | 0.358 | 2 | - | - |
| FGF6 | p.V127M | Missense | SNP | 0.492 | 2 | - | - |
| FGF8 | - | - | - | - | 3 | Gain | - |
| FGFBP3 | - | - | - | - | 3 | Gain | - |
| FGFR2 | - | - | - | - | 3 | Gain | - |
| FHAD1 | p.S26T | Missense | SNP | 0.455 | 2 | - | - |
| FHOD1 | p.P585Lfs*43 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
| FHOD3 | - | - | - | - | 3 | Gain | - |
| FLG | p.G2782D | Missense | SNP | 0.248 | 2 | - | - |
| FLI1 | p.M348L | Missense | SNP | 0.526 | 2 | - | - |
| FLNA | p.A1188V | Missense | SNP | 0.467 | ND | ND | - |
| FLT4 | p.P619Lfs*20 p.P30L | Frame_Shift_Del Missense | DEL SNP | 0.499 0.446 | 2 | - | - |
| FO681492.1 | - | - | - | - | 3 | Gain | - |
| FOXI1 | p.R143C | Missense | SNP | 0.418 | 2 | - | - |
| FOXI2 | p.A77T | Missense | SNP | 0.324 | 3 | Gain | - |
| FOXP1 | p.L414* p.R36W | Frame_Shift_Del Missense | DEL SNP | 0.507 0.484 | 2 | - | - |
| FRA10AC1 | p.R232Efs*96 | Frame_Shift_Del | DEL | 0.429 | 3 | Gain | - |
| FRAT1 | - | - | - | - | 3 | Gain | - |
| FRAT2 | - | - | - | - | 3 | Gain | - |
| FREM1 | p.R507H | Missense | SNP | 0.500 | 2 | - | - |
| FRG2B | - | - | - | - | 3 | Gain | - |
| FRMD4A | - | - | - | - | 3 | Gain | - |
| FRMPD2 | - | - | - | - | 3 | Gain | - |
| FSIP2 | p.V5823Yfs*24 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| FUOM | - | - | - | - | 3 | Gain | - |
| FUT11 | - | - | - | - | 3 | Gain | - |
| FUT5 | p.R14C | Missense | SNP | 0.473 | 2 | - | - |
| FXYD4 | - | - | - | - | 3 | Gain | - |
| FZD8 | - | - | - | - | 3 | Gain | - |
| G6PC2 | p.R79Q | Missense | SNP | 0.502 | 2 | - | - |
| GABRB3 | p.L170Pfs*11 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
| GABRP | p.R293H | Missense | SNP | 0.559 | 2 | - | - |
| GAD2 | - | - | - | - | 3 | Gain | - |
| GAL3ST1 | p.A387T | Missense | SNP | 0.414 | 2 | - | - |
| GALNT1 | - | - | - | - | 3 | Gain | - |
| GALR1 | - | - | - | - | 3 | Gain | - |
| GAPT | p.P101L | Missense | SNP | 0.500 | 2 | - | - |
| GAREM1 | - | - | - | - | 3 | Gain | - |
| GATA3 | - | - | - | - | 3 | Gain | - |
| GATA6 | - | - | - | - | 3 | Gain | - |
| GBF1 | - | - | - | - | 3 | Gain | - |
| GBGT1 | p.R243H | Missense | SNP | 0.482 | 2 | - | - |
| GDAP1L1 | p.E199K | Missense | SNP | 0.496 | 2 | - | - |
| GDF10 | - | - | - | - | 3 | Gain | - |
| GDF2 | - | - | - | - | 3 | Gain | - |
| GDF5 | p.R325C | Missense | SNP | 0.439 | 2 | - | - |
| GDI2 | - | - | - | - | 3 | Gain | - |
| GEM | p.R56Q | Missense | SNP | 0.433 | 2 | - | - |
| GEMIN2 | p.K146Nfs*24 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| GFI1 | p.R275C | Missense | SNP | 0.092 | 2 | - | - |
| GFOD1 | p.A335T | Missense | SNP | 0.529 | 2 | - | - |
| GFRA1 | - | - | - | - | 3 | Gain | - |
| GGA1 | p.P632Hfs*59 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
| GGN | p.A115V | Missense | SNP | 0.374 | 2 | - | - |
| GHITM | - | - | - | - | 3 | Gain | - |
| GIMAP8 | p.R81H | Missense | SNP | 0.516 | 2 | - | - |
| GIPC1 | p.P50Lfs*48 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
| GJD4 | - | - | - | - | 3 | Gain | - |
| GLOD4 | p.R50Q | Missense | SNP | 0.625 | 2 | - | - |
| GLRX3 | - | - | - | - | 3 | Gain | - |
| GLTSCR1 | p.E1438K | Missense | SNP | 0.471 | ND | ND | - |
| GLUD1 | - | - | - | - | 3 | Gain | - |
| GLYCTK | p.A481T | Missense | SNP | 0.514 | 2 | - | - |
| GLYR1 | p.R381Afs*15 | Frame_Shift_Ins | INS | 0.321 | 2 | - | - |
| GM2A | p.R169H | Missense | SNP | 0.469 | 2 | - | - |
| GMEB1 | p.A499V | Missense | SNP | 0.495 | 2 | - | - |
| GNAL | - | - | - | - | 3 | Gain | - |
| GNB1L | p.V108M | Missense | SNP | 0.559 | 2 | - | - |
| GNMT | p.D272N | Missense | SNP | 0.566 | 2 | - | - |
| GOLGA4 | p.E727D | Missense | SNP | 0.396 | 2 | - | - |
| GOLGA7B | - | - | - | - | 3 | Gain | - |
| GOLPH3 | p.T148M | Missense | SNP | 0.449 | 2 | - | - |
| GOT1 | - | - | - | - | 3 | Gain | - |
| GPAA1 | p.X389_splice | Splice_Site | SNP | 0.506 | 2 | - | - |
| GPAM | - | - | - | - | 3 | Gain | - |
| GPI | p.E393Sfs*20 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
| GPR119 | p.A294T | Missense | SNP | 0.369 | ND | ND | - |
| GPR158 | - | - | - | - | 3 | Gain | - |
| GPR26 | - | - | - | - | 3 | Gain | - |
| GPR34 | p.S62Cfs*23 | Frame_Shift_Del | DEL | 0.480 | ND | ND | - |
| GPR85 | p.A311V | Missense | SNP | 0.467 | 2 | - | - |
| GPRASP2 | p.T88M | Missense | SNP | 0.463 | ND | ND | - |
| GPRIN2 | - | - | - | - | 3 | Gain | - |
| GRB10 | p.A166T | Missense | SNP | 0.387 | 2 | - | - |
| GREB1L | - | - | - | - | 3 | Gain | - |
| GRID1 | - | - | - | - | 3 | Gain | - |
| GRK5 | - | - | - | - | 3 | Gain | - |
| GRP | - | - | - | - | 3 | Gain | - |
| GSK3A | p.V133M | Missense | SNP | 0.529 | 2 | - | - |
| GSTO1 | - | - | - | - | 3 | Gain | - |
| GSTO2 | - | - | - | - | 3 | Gain | - |
| GTPBP4 | - | - | - | - | 3 | Gain | - |
| GUCY1B3 | p.L472I | Missense | SNP | 0.510 | ND | ND | - |
| H2AFY2 | - | - | - | - | 3 | Gain | - |
| HABP2 | - | - | - | - | 3 | Gain | - |
| HACD1 | - | - | - | - | 3 | Gain | - |
| HADHB | p.K474N | Missense | SNP | 0.416 | 2 | - | - |
| HAUS1 | - | - | - | - | 3 | Gain | - |
| HBE1 | p.A139V | Missense | SNP | 0.547 | 2 | - | - |
| HCN3 | p.R502H | Missense | SNP | 0.559 | 2 | - | - |
| HDAC5 | p.I933Lfs*14 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
| HDGF | p.S218Lfs*? | Frame_Shift_Del | DEL | 0.600 | 2 | - | - |
| HDHD2 | - | - | - | - | 3 | Gain | - |
| HDHD3 | p.Q92H | Missense | SNP | 0.556 | 2 | - | - |
| HECTD1 | p.I2041Lfs*27 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
| HECTD2 | - | - | - | - | 3 | Gain | - |
| HELLS | - | - | - | - | 3 | Gain | - |
| HELZ | p.A149T | Missense | SNP | 0.440 | 2 | - | - |
| HERC2 | p.A335T | Missense | SNP | 0.575 | 2 | - | - |
| HERC4 | - | - | - | - | 3 | Gain | - |
| HFE | p.L122M | Missense | SNP | 0.486 | 2 | - | - |
| HHEX | - | - | - | - | 3 | Gain | - |
| HIC2 | p.T549M | Missense | SNP | 0.438 | 2 | - | - |
| HIF1AN | - | - | - | - | 3 | Gain | - |
| HIST1H1E | - | - | - | - | 2 | - | AL355075.4--HIST1H1E |
| HIST1H4C | p.T72I | Missense | SNP | 0.407 | 2 | - | - |
| HK1 | p.T605M | Missense | SNP | 0.301 | 3 | Gain | - |
| HKDC1 | - | - | - | - | 3 | Gain | - |
| HLA-F | p.A203T | Missense | SNP | 0.491 | 2 | - | - |
| HMSD | - | - | - | - | 3 | Gain | - |
| HMX2 | - | - | - | - | 3 | Gain | - |
| HMX3 | - | - | - | - | 3 | Gain | - |
| HNRNPF | - | - | - | - | 3 | Gain | - |
| HNRNPH3 | - | - | - | - | 3 | Gain | - |
| HNRNPK | p.R268W | Missense | SNP | 0.454 | 2 | - | - |
| HOGA1 | - | - | - | - | 3 | Gain | - |
| HOXA11 | p.I299Lfs*30 | Frame_Shift_Del | DEL | 0.066 | 2 | - | - |
| HOXA3 | p.Q302Pfs*42 | Frame_Shift_Ins | INS | 0.371 | 2 | - | - |
| HPCA | p.R118Q | Missense | SNP | 0.531 | 2 | - | - |
| HPS1 | p.M325Wfs*6 | Frame_Shift_Del | DEL | 0.253 | 3 | Gain | - |
| HPS6 | - | - | - | - | 3 | Gain | - |
| HPSE | p.F532Lfs*2 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
| HPSE2 | p.A315T | Missense | SNP | 0.286 | 3 | Gain | - |
| HRAS | p.A18V | Missense | SNP | 0.492 | 2 | - | - |
| HRG | p.R201L | Missense | SNP | 0.377 | 2 | - | - |
| HRH4 | - | - | - | - | 3 | Gain | - |
| HS3ST1 | p.R193H | Missense | SNP | 0.125 | 2 | - | - |
| HS6ST2 | p.R94C | Missense | SNP | 0.473 | ND | ND | - |
| HSBP1L1 | - | - | - | - | 3 | Gain | - |
| HSPA12A | - | - | - | - | 3 | Gain | - |
| HSPA14 | - | - | - | - | 3 | Gain | - |
| HTR3A | p.S178L | Missense | SNP | 0.587 | 2 | - | - |
| HTR7 | - | - | - | - | 3 | Gain | - |
| HTRA1 | - | - | - | - | 3 | Gain | - |
| HTT | p.R416H | Missense | SNP | 0.378 | 2 | - | - |
| HUNK | p.E596K | Missense | SNP | 0.527 | 2 | - | - |
| ICAM5 | p.R434H | Missense | SNP | 0.529 | 2 | - | - |
| IDE | - | - | - | - | 3 | Gain | - |
| IDH1 | p.R132H | Missense | SNP | 0.382 | 2 | - | - |
| IDI1 | - | - | - | - | 3 | Gain | - |
| IDI2 | - | - | - | - | 3 | Gain | - |
| IER3IP1 | - | - | - | - | 3 | Gain | - |
| IFIT1 | - | - | - | - | 3 | Gain | - |
| IFIT1B | - | - | - | - | 3 | Gain | - |
| IFIT2 | - | - | - | - | 3 | Gain | - |
| IFIT3 | - | - | - | - | 3 | Gain | - |
| IFIT5 | - | - | - | - | 3 | Gain | - |
| IFNL2 | p.F137L p.R152W | Missense Missense | SNP SNP | 0.059 0.438 | 2 | - | - |
| IGF1R | p.S915L | Missense | SNP | 0.563 | 2 | - | - |
| IGF2BP1 | p.G541R | Missense | SNP | 0.565 | 2 | - | - |
| IKZF5 | - | - | - | - | 3 | Gain | - |
| IL15RA | - | - | - | - | 3 | Gain | - |
| IL17RC | p.W167R | Missense | SNP | 0.538 | 2 | - | - |
| IL17RD | p.A453V | Missense | SNP | 0.559 | 2 | - | - |
| IL2RA | - | - | - | - | 3 | Gain | - |
| IL31RA | p.G534Efs*7 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
| ILKAP | p.S202Qfs*52 | Frame_Shift_Del | DEL | 0.349 | 2 | - | - |
| IMPA2 | - | - | - | - | 3 | Gain | - |
| IMPACT | - | - | - | - | 3 | Gain | - |
| INA | - | - | - | - | 3 | Gain | - |
| INO80C | - | - | - | - | 3 | Gain | - |
| INPP5A | - | - | - | - | 3 | Gain | - |
| INPP5F | - | - | - | - | 3 | Gain | - |
| INSM2 | p.H309N | Missense | SNP | 0.536 | 2 | - | - |
| INSYN2 | - | - | - | - | 3 | Gain | - |
| INTS5 | p.S1010del | In_Frame_Del | DEL | 0.518 | 2 | - | - |
| INTS6L | p.R305Q | Missense | SNP | 0.538 | ND | ND | - |
| INVS | p.N1061Kfs*20 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
| IPMK | - | - | - | - | 3 | Gain | - |
| IRF8 | p.S34I | Missense | SNP | 0.507 | 2 | - | - |
| IRGC | p.V89I | Missense | SNP | 0.440 | 2 | - | - |
| IRS1 | p.R998Vfs*13 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
| ISL2 | p.G173E | Missense | SNP | 0.513 | 2 | - | - |
| ISM1 | p.A412V | Missense | SNP | 0.511 | 2 | - | - |
| ITGA8 | - | - | - | - | 3 | Gain | - |
| ITGAV | p.X283_splice | Splice_Site | SNP | 0.533 | 2 | - | - |
| ITGAX | p.R426Afs*20 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
| ITGB1 | - | - | - | - | 3 | Gain | - |
| ITIH2 | - | - | - | - | 3 | Gain | - |
| ITIH5 | - | - | - | - | 3 | Gain | - |
| ITPRIP | - | - | - | - | 3 | Gain | - |
| JAK1 | p.P430Rfs*2 p.R997W p.R108Q | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.485 0.459 0.466 | 2 | - | - |
| JAKMIP3 | - | - | - | - | 3 | Gain | - |
| JCAD | - | - | - | - | 3 | Gain | - |
| JMJD1C | - | - | - | - | 3 | Gain | - |
| JPH2 | p.A595V | Missense | SNP | 0.526 | 2 | - | - |
| KANK3 | p.D792N | Missense | SNP | 0.438 | 2 | - | - |
| KAT6B | - | - | - | - | 3 | Gain | - |
| KATNA1 | p.A428V | Missense | SNP | 0.558 | 2 | - | - |
| KATNAL2 | - | - | - | - | 3 | Gain | - |
| KAZALD1 | - | - | - | - | 3 | Gain | - |
| KBTBD13 | p.T162M | Missense | SNP | 0.505 | 2 | - | - |
| KCNC1 | p.K457Rfs*20 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
| KCNC4 | p.R413W | Missense | SNP | 0.530 | 2 | - | - |
| KCNG2 | - | - | - | - | 3 | Gain | - |
| KCNH2 | p.W497* p.R472H | Nonsense Missense | SNP SNP | 0.407 0.434 | 2 | - | - |
| KCNH5 | p.V58I | Missense | SNP | 0.580 | 2 | - | - |
| KCNIP2 | - | - | - | - | 3 | Gain | - |
| KCNJ4 | p.P433L | Missense | SNP | 0.526 | 2 | - | - |
| KCNK15 | p.R259H | Missense | SNP | 0.359 | 2 | - | - |
| KCNK18 | - | - | - | - | 3 | Gain | - |
| KCNMA1 | - | - | - | - | 3 | Gain | - |
| KCTD1 | - | - | - | - | 3 | Gain | - |
| KCTD10 | p.R308Q | Missense | SNP | 0.406 | 2 | - | - |
| KCTD18 | p.S301R | Missense | SNP | 0.545 | 2 | - | - |
| KCTD8 | p.L209R | Missense | SNP | 0.400 | 2 | - | - |
| KDM4C | p.Y1011Mfs*16 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
| KDM5A | p.G1200Dfs*9 p.R674Q | Frame_Shift_Del Missense | DEL SNP | 0.456 0.419 | 2 | - | - |
| KDSR | - | - | - | - | 3 | Gain | - |
| KIAA1161 | p.R673H | Missense | SNP | 0.503 | ND | ND | - |
| KIAA1217 | p.R976Gfs*16 p.A233T | Frame_Shift_Del Missense | DEL SNP | 0.625 0.349 | 3 | Gain | - |
| KIAA1328 | - | - | - | - | 3 | Gain | - |
| KIAA1522 | p.A247T | Missense | SNP | 0.429 | 2 | - | - |
| KIAA1549 | p.L283* | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
| KIAA1614 | p.P50Qfs*15 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
| KIAA2026 | p.K740Nfs*16 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
| KIF11 | - | - | - | - | 3 | Gain | - |
| KIF13A | p.A364T | Missense | SNP | 0.509 | 2 | - | - |
| KIF1BP | - | - | - | - | 3 | Gain | - |
| KIF20B | - | - | - | - | 3 | Gain | - |
| KIF21B | p.V33I | Missense | SNP | 0.409 | 2 | - | - |
| KIF27 | p.A1067V | Missense | SNP | 0.482 | 2 | - | - |
| KIF5B | - | - | - | - | 3 | Gain | - |
| KIN | - | - | - | - | 3 | Gain | - |
| KLF6 | - | - | - | - | 3 | Gain | - |
| KLHL1 | p.G35Efs*31 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
| KLHL14 | - | - | - | - | 3 | Gain | - |
| KLHL23 | p.C126Lfs*2 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
| KLHL29 | p.Y227C | Missense | SNP | 0.541 | 2 | - | - |
| KLHL42 | p.C399Vfs*44 | Frame_Shift_Del | DEL | 0.420 | 2 | - | - |
| KLK15 | p.R130C | Missense | SNP | 0.543 | 2 | - | - |
| KLLN | - | - | - | - | 3 | Gain | - |
| KMT2B | p.R1400C | Missense | SNP | 0.509 | 2 | - | - |
| KMT2C | p.S143Vfs*3 p.P1838H | Frame_Shift_Del Missense | DEL SNP | 0.476 0.451 | 2 | - | - |
| KMT2D | p.P2354Lfs*30 p.R5086* p.A4599V | Frame_Shift_Del Nonsense Missense | DEL SNP SNP | 0.507 0.470 0.364 | 2 | - | - |
| KMT2E | p.M1354* | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
| KNDC1 | p.Q1704* | Nonsense | SNP | 0.642 | 3 | Gain | - |
| KRBOX1 | p.Q77Sfs*6 | Frame_Shift_Del | DEL | 0.551 | 2 | - | - |
| KRT34 | p.R376W | Missense | SNP | 0.479 | 2 | - | - |
| KYAT3 | p.I153T | Missense | SNP | 0.490 | 2 | - | - |
| L1CAM | p.P90H | Missense | SNP | 0.473 | ND | ND | - |
| L3MBTL4 | - | - | - | - | 3 | Gain | - |
| LAMA1 | p.N496Tfs*27 | Frame_Shift_Del | DEL | 0.336 | 3 | Gain | - |
| LAMA3 | p.R1841H | Missense | SNP | 0.652 | 3 | Gain | - |
| LAMC3 | p.R152H | Missense | SNP | 0.531 | 2 | - | - |
| LARP4B | - | - | - | - | 3 | Gain | - |
| LBX1 | - | - | - | - | 3 | Gain | - |
| LCLAT1 | p.N222Mfs*21 | Frame_Shift_Del | DEL | 0.525 | 2 | - | - |
| LCOR | - | - | - | - | 3 | Gain | - |
| LCT | p.A952T | Missense | SNP | 0.578 | 2 | - | - |
| LDB1 | - | - | - | - | 3 | Gain | - |
| LDB3 | - | - | - | - | 3 | Gain | - |
| LDLRAD4 | - | - | - | - | 3 | Gain | - |
| LEFTY2 | p.P286Rfs*41 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
| LEP | p.G8R | Missense | SNP | 0.534 | 2 | - | - |
| LGI1 | - | - | - | - | 3 | Gain | - |
| LGR4 | p.R304C | Missense | SNP | 0.445 | 2 | - | - |
| LHPP | - | - | - | - | 3 | Gain | - |
| LHX2 | p.T374Pfs*5 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
| LHX9 | p.R271* | Nonsense | SNP | 0.513 | 2 | - | - |
| LILRA2 | p.P287L | Missense | SNP | 0.410 | 2 | - | - |
| LIMA1 | p.T537Lfs*38 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
| LIPA | - | - | - | - | 3 | Gain | - |
| LIPE | p.E943D | Missense | SNP | 0.504 | 2 | - | - |
| LIPF | - | - | - | - | 3 | Gain | - |
| LIPG | - | - | - | - | 3 | Gain | - |
| LIPJ | - | - | - | - | 3 | Gain | - |
| LIPK | - | - | - | - | 3 | Gain | - |
| LIPM | - | - | - | - | 3 | Gain | - |
| LIPN | - | - | - | - | 3 | Gain | - |
| LMAN1 | - | - | - | - | 3 | Gain | - |
| LOXHD1 | - | - | - | - | 3 | Gain | - |
| LOXL3 | p.R148C | Missense | SNP | 0.545 | 2 | - | - |
| LOXL4 | p.E431D | Missense | SNP | 0.298 | 3 | Gain | - |
| LPA | p.R1464Q | Missense | SNP | 0.500 | 2 | - | - |
| LPAR5 | p.R78C | Missense | SNP | 0.465 | 2 | - | - |
| LPIN2 | - | - | - | - | 3 | Gain | - |
| LPO | p.G515Afs*9 | Frame_Shift_Del | DEL | 0.548 | 2 | - | - |
| LRBA | p.R1992Q | Missense | SNP | 0.457 | 2 | - | - |
| LRFN2 | p.T500M | Missense | SNP | 0.109 | 2 | - | - |
| LRIT1 | - | - | - | - | 3 | Gain | - |
| LRIT2 | - | - | - | - | 3 | Gain | - |
| LRMDA | - | - | - | - | 3 | Gain | - |
| LRP1 | p.L3628Cfs*155 p.R1628H | Frame_Shift_Del Missense | DEL SNP | 0.472 0.476 | 2 | - | - |
| LRP1B | p.G1820E p.V73A | Missense Missense | SNP SNP | 0.560 0.535 | 2 | - | - |
| LRRC18 | - | - | - | - | 3 | Gain | - |
| LRRC20 | - | - | - | - | 3 | Gain | - |
| LRRC27 | - | - | - | - | 3 | Gain | - |
| LRRC30 | - | - | - | - | 3 | Gain | - |
| LRRC37A | - | - | - | - | 1 | Loss | - |
| LRRC37A2 | - | - | - | - | 1 | Loss | - |
| LRRC3B | p.T201Lfs*17 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
| LRRC46 | p.P282H | Missense | SNP | 0.530 | 2 | - | - |
| LRRC53 | p.N547Ifs*12 | Frame_Shift_Del | DEL | 0.116 | 2 | - | - |
| LRRIQ3 | p.K244Nfs*17 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| LRRTM3 | - | - | - | - | 3 | Gain | - |
| LYST | p.R3449Q | Missense | SNP | 0.430 | 2 | - | - |
| LYZL1 | p.G102S | Missense | SNP | 0.297 | 3 | Gain | - |
| LYZL2 | - | - | - | - | 3 | Gain | - |
| LZTR1 | p.A392V | Missense | SNP | 0.462 | 2 | - | - |
| LZTS1 | p.P108S | Missense | SNP | 0.482 | 2 | - | - |
| LZTS2 | - | - | - | - | 3 | Gain | - |
| MACF1 | p.R4914H | Missense | SNP | 0.496 | 2 | - | - |
| MAGEB6 | p.G130D | Missense | SNP | 0.769 | ND | ND | - |
| MAGEC3 | p.V585I | Missense | SNP | 0.503 | ND | ND | - |
| MAGED2 | p.X362_splice | Splice_Site | SNP | 0.498 | ND | ND | - |
| MALRD1 | - | - | - | - | 3 | Gain | - |
| MALT1 | - | - | - | - | 3 | Gain | - |
| MAOA | p.R454* | Nonsense | SNP | 0.600 | ND | ND | - |
| MAP1S | p.S595* p.D296N | Frame_Shift_Ins Missense | INS SNP | 0.346 0.610 | 2 | - | - |
| MAP3K7CL | p.A16T | Missense | SNP | 0.498 | 2 | - | - |
| MAP3K8 | - | - | - | - | 3 | Gain | - |
| MAP4K3 | p.G190Vfs*16 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
| MAPK4 | - | - | - | - | 3 | Gain | - |
| MAPK8 | - | - | - | - | 3 | Gain | - |
| MAPK8IP2 | p.R461* | Nonsense | SNP | 0.404 | 2 | - | - |
| MAPKAPK3 | p.R31Afs*47 | Frame_Shift_Ins | INS | 0.250 | 2 | - | - |
| MAPRE2 | - | - | - | - | 3 | Gain | - |
| MARCH5 | - | - | - | - | 3 | Gain | - |
| MARCH8 | - | - | - | - | 3 | Gain | - |
| MARCKS | p.A328Sfs*14 | Frame_Shift_Ins | INS | 0.326 | 2 | - | - |
| MARVELD1 | - | - | - | - | 3 | Gain | - |
| MAST1 | p.G1280D | Missense | SNP | 0.476 | 2 | - | - |
| MASTL | - | - | - | - | 3 | Gain | - |
| MAT1A | - | - | - | - | 3 | Gain | - |
| MATN4 | p.R394H | Missense | SNP | 0.474 | 2 | - | - |
| MAZ | p.F14Lfs*34 | Frame_Shift_Ins | INS | 0.330 | 2 | - | - |
| MBD1 | - | - | - | - | 3 | Gain | - |
| MBD2 | - | - | - | - | 3 | Gain | - |
| MBL2 | - | - | - | - | 3 | Gain | - |
| MBP | - | - | - | - | 3 | Gain | - |
| MBTPS1 | p.G751R | Missense | SNP | 0.488 | 2 | - | - |
| MC2R | - | - | - | - | 3 | Gain | - |
| MC4R | - | - | - | - | 3 | Gain | - |
| MC5R | - | - | - | - | 3 | Gain | - |
| MCCC1 | p.A670V | Missense | SNP | 0.511 | 2 | - | - |
| MCHR2 | p.R140* | Nonsense | SNP | 0.486 | 2 | - | - |
| MCM10 | - | - | - | - | 3 | Gain | - |
| MCM4 | p.T629Qfs*18 | Frame_Shift_Del | DEL | 0.574 | 2 | - | - |
| MCM5 | p.R114Q | Missense | SNP | 0.453 | 2 | - | - |
| MCMBP | - | - | - | - | 3 | Gain | - |
| MCPH1 | p.T468Pfs*32 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| MCTP1 | p.F877Ifs*4 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
| MCU | - | - | - | - | 3 | Gain | - |
| ME2 | - | - | - | - | 3 | Gain | - |
| MEFV | p.A507T | Missense | SNP | 0.389 | 2 | - | - |
| MEGF6 | p.A1440Hfs*78 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
| MEIG1 | - | - | - | - | 3 | Gain | - |
| MEP1B | - | - | - | - | 3 | Gain | - |
| MESDC1 | p.A72T | Missense | SNP | 0.449 | ND | ND | - |
| MEST | p.R167Q | Missense | SNP | 0.472 | 2 | - | - |
| METTL4 | - | - | - | - | 3 | Gain | - |
| METTL9 | p.L110M | Missense | SNP | 0.417 | 2 | - | - |
| MEX3B | p.Y55Rfs*21 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
| MEX3C | - | - | - | - | 3 | Gain | - |
| MFSD1 | p.R58W | Missense | SNP | 0.472 | 2 | - | - |
| MFSD13A | - | - | - | - | 3 | Gain | - |
| MFSD4B | p.C202Vfs*4 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
| MGMT | - | - | - | - | 3 | Gain | - |
| MIB1 | - | - | - | - | 3 | Gain | - |
| MICAL1 | p.G115R | Missense | SNP | 0.613 | 2 | - | - |
| MICAL3 | p.R1405Gfs*33 | Frame_Shift_Del | DEL | 0.543 | 2 | - | - |
| MICALCL | p.S51Afs*49 p.R261Q | Frame_Shift_Del Missense | DEL SNP | 0.492 0.494 | ND | ND | - |
| MICU1 | p.R263C | Missense | SNP | 0.331 | 3 | Gain | - |
| MICU3 | p.R5* | Nonsense | SNP | 0.521 | 2 | - | - |
| MINDY3 | - | - | - | - | 3 | Gain | - |
| MINPP1 | - | - | - | - | 3 | Gain | - |
| MISP | p.G116R | Missense | SNP | 0.486 | 2 | - | - |
| MKI67 | - | - | - | - | 3 | Gain | - |
| MKX | - | - | - | - | 3 | Gain | - |
| MLC1 | p.L217M | Missense | SNP | 0.522 | 2 | - | - |
| MLLT10 | - | - | - | - | 3 | Gain | - |
| MLLT3 | p.R556C | Missense | SNP | 0.555 | 2 | - | - |
| MLLT4 | p.R1577C | Missense | SNP | 0.524 | ND | ND | - |
| MLNR | p.G268R | Missense | SNP | 0.516 | 2 | - | - |
| MLXIP | p.R214C p.A498T | Missense Missense | SNP SNP | 0.453 0.439 | 2 | - | - |
| MMP21 | - | - | - | - | 3 | Gain | - |
| MMRN2 | - | - | - | - | 3 | Gain | - |
| MMS19 | - | - | - | - | 3 | Gain | - |
| MOCOS | - | - | - | - | 3 | Gain | - |
| MOGAT1 | p.G112E | Missense | SNP | 0.496 | 2 | - | - |
| MORF4L1 | p.A252V | Missense | SNP | 0.424 | 2 | - | - |
| MORN4 | - | - | - | - | 3 | Gain | - |
| MPP7 | - | - | - | - | 3 | Gain | - |
| MPPE1 | p.E83Gfs*40 | Frame_Shift_Ins | INS | 0.243 | 3 | Gain | - |
| MRC1 | - | - | - | - | 3 | Gain | - |
| MRO | - | - | - | - | 3 | Gain | - |
| MRPL43 | - | - | - | - | 3 | Gain | - |
| MRPS16 | - | - | - | - | 3 | Gain | - |
| MSMB | - | - | - | - | 3 | Gain | - |
| MSRB2 | - | - | - | - | 3 | Gain | - |
| MSS51 | - | - | - | - | 3 | Gain | - |
| MST1R | p.V898M | Missense | SNP | 0.480 | 2 | - | - |
| MTA1 | p.R682C | Missense | SNP | 0.587 | 2 | - | - |
| MTCL1 | - | - | - | - | 3 | Gain | - |
| MTG1 | - | - | - | - | 3 | Gain | - |
| MTPAP | - | - | - | - | 3 | Gain | - |
| MTSS1L | p.G560Afs*34 | Frame_Shift_Del | DEL | 0.518 | 2 | - | - |
| MUC15 | p.K20Nfs*12 | Frame_Shift_Del | DEL | 0.410 | 2 | - | - |
| MUC21 | p.H538Tfs*18 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
| MUC5AC | p.M5088I | Missense | SNP | 0.513 | 2 | - | - |
| MUC5B | p.P3687L | Missense | SNP | 0.317 | 2 | - | - |
| MXI1 | - | - | - | - | 3 | Gain | - |
| MXRA8 | p.R301Gfs*107 | Frame_Shift_Del | DEL | 0.559 | 2 | - | - |
| MYADM | p.A220T | Missense | SNP | 0.465 | 2 | - | - |
| MYCBP2 | p.G3497* | Nonsense | SNP | 0.484 | 2 | - | - |
| MYCT1 | p.E66* | Nonsense | SNP | 0.394 | 2 | - | - |
| MYEOV | p.W272Gfs*66 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
| MYH10 | p.Q886R | Missense | SNP | 0.509 | 2 | - | - |
| MYH11 | p.A649T | Missense | SNP | 0.377 | 2 | - | - |
| MYH9 | p.L812I | Missense | SNP | 0.482 | 2 | - | - |
| MYL12A | - | - | - | - | 3 | Gain | - |
| MYL12B | - | - | - | - | 3 | Gain | - |
| MYL7 | p.Q79R | Missense | SNP | 0.502 | 2 | - | - |
| MYO1G | p.R37C | Missense | SNP | 0.368 | 2 | - | - |
| MYO3A | - | - | - | - | 3 | Gain | - |
| MYO5A | p.I1440Lfs*4 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
| MYO5B | - | - | - | - | 3 | Gain | - |
| MYO7B | p.P107L | Missense | SNP | 0.458 | 2 | - | - |
| MYOF | p.I1430V | Missense | SNP | 0.324 | 3 | Gain | - |
| MYOG | p.S77P | Missense | SNP | 0.505 | 2 | - | - |
| MYOM1 | - | - | - | - | 3 | Gain | - |
| MYOM3 | p.E1430K | Missense | SNP | 0.511 | 2 | - | - |
| MYOZ1 | - | - | - | - | 3 | Gain | - |
| MYPN | p.I891* | Frame_Shift_Del | DEL | 0.304 | 3 | Gain | - |
| MZT2B | - | - | - | - | 1 | Loss | - |
| NAA35 | p.K567Rfs*6 | Frame_Shift_Del | DEL | 0.361 | 2 | - | - |
| NADSYN1 | p.V454I | Missense | SNP | 0.446 | 2 | - | - |
| NANOS1 | - | - | - | - | 3 | Gain | - |
| NAP1L5 | p.A32V | Missense | SNP | 0.469 | 2 | - | - |
| NAPG | - | - | - | - | 3 | Gain | - |
| NARS | p.V536M | Missense | SNP | 0.366 | 3 | Gain | - |
| NBPF1 | p.A354V | Missense | SNP | 0.058 | 2 | - | - |
| NCAPD3 | p.R834H | Missense | SNP | 0.447 | 2 | - | - |
| NCKIPSD | p.F631del | In_Frame_Del | DEL | 0.422 | 2 | - | - |
| NCOA2 | p.V1419M | Missense | SNP | 0.493 | 2 | - | - |
| NCOA3 | p.Q78* | Nonsense | SNP | 0.562 | 2 | - | - |
| NCOA4 | - | - | - | - | 3 | Gain | - |
| NDC80 | p.T571M | Missense | SNP | 0.594 | 3 | Gain | - |
| NDST2 | p.L191Yfs*12 | Frame_Shift_Del | DEL | 0.218 | 3 | Gain | - |
| NDUFB8 | - | - | - | - | 3 | Gain | - |
| NDUFS7 | p.A187T | Missense | SNP | 0.432 | 2 | - | - |
| NDUFV2 | - | - | - | - | 3 | Gain | - |
| NEBL | - | - | - | - | 3 | Gain | - |
| NEDD4L | p.N156Mfs*51 | Frame_Shift_Del | DEL | 0.632 | 3 | Gain | - |
| NEK1 | p.D1179Y | Missense | SNP | 0.473 | 2 | - | - |
| NEK4 | p.R743W | Missense | SNP | 0.461 | 2 | - | - |
| NET1 | - | - | - | - | 3 | Gain | - |
| NETO1 | - | - | - | - | 3 | Gain | - |
| NEURL1 | - | - | - | - | 3 | Gain | - |
| NEURL1B | p.R533Q | Missense | SNP | 0.485 | 2 | - | - |
| NEURL4 | p.L1256Cfs*12 p.E504Rfs*38 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.423 0.082 | 2 | - | - |
| NEUROD6 | p.K83Rfs*35 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
| NEUROG3 | - | - | - | - | 3 | Gain | - |
| NFATC1 | - | - | - | - | 3 | Gain | - |
| NFE2 | p.R300Q | Missense | SNP | 0.517 | 2 | - | - |
| NFKB2 | - | - | - | - | 3 | Gain | - |
| NHLRC2 | - | - | - | - | 3 | Gain | - |
| NHSL2 | p.S123L | Missense | SNP | 0.446 | ND | ND | - |
| NIPAL3 | p.R133C | Missense | SNP | 0.522 | 2 | - | - |
| NKAPL | p.R127Dfs*8 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
| NKTR | p.N766Ifs*30 | Frame_Shift_Del | DEL | 0.374 | 2 | - | - |
| NKX1-2 | - | - | - | - | 3 | Gain | - |
| NKX2-1 | p.A201V | Missense | SNP | 0.573 | 2 | - | - |
| NKX2-3 | - | - | - | - | 3 | Gain | - |
| NKX6-2 | - | - | - | - | 3 | Gain | - |
| NLRC5 | p.R1500W | Missense | SNP | 0.564 | 2 | - | - |
| NLRP2 | p.R587Q | Missense | SNP | 0.458 | 2 | - | - |
| NLRP8 | p.E619G | Missense | SNP | 0.577 | 2 | - | - |
| NMT2 | - | - | - | - | 3 | Gain | - |
| NOC3L | - | - | - | - | 3 | Gain | - |
| NODAL | - | - | - | - | 3 | Gain | - |
| NOL4 | - | - | - | - | 3 | Gain | - |
| NOLC1 | - | - | - | - | 3 | Gain | - |
| NOS2 | p.R670H | Missense | SNP | 0.516 | 2 | - | - |
| NOTCH1 | p.Q462* | Nonsense | SNP | 0.518 | 2 | - | - |
| NOVA1 | p.K210N | Missense | SNP | 0.509 | 2 | - | - |
| NPC1 | p.D466N | Missense | SNP | 0.309 | 3 | Gain | - |
| NPFFR1 | - | - | - | - | 3 | Gain | - |
| NPM3 | - | - | - | - | 3 | Gain | - |
| NPRL3 | p.Y531H | Missense | SNP | 0.491 | 2 | - | - |
| NPS | - | - | - | - | 3 | Gain | - |
| NPY4R | - | - | - | - | 3 | Gain | - |
| NPY4R2 | - | - | - | - | 3 | Gain | - |
| NR2F1 | p.N263D | Missense | SNP | 0.514 | 2 | - | - |
| NR3C2 | p.V618A | Missense | SNP | 0.437 | 2 | - | - |
| NRAP | p.A539V | Missense | SNP | 0.385 | 3 | Gain | - |
| NRBF2 | - | - | - | - | 3 | Gain | - |
| NRG1 | p.E79* | Nonsense | SNP | 0.495 | 2 | - | - |
| NRG3 | - | - | - | - | 3 | Gain | - |
| NRK | p.Q410H p.Q809R | Missense Missense | SNP SNP | 0.481 0.528 | ND | ND | - |
| NRP1 | - | - | - | - | 3 | Gain | - |
| NSD1 | p.M1531Cfs*43 | Frame_Shift_Del | DEL | 0.378 | 2 | - | - |
| NSF | - | - | - | - | 1 | Loss | - |
| NSMCE1 | p.V27M | Missense | SNP | 0.475 | 2 | - | - |
| NSMCE4A | - | - | - | - | 3 | Gain | - |
| NSUN6 | - | - | - | - | 3 | Gain | - |
| NT5C2 | - | - | - | - | 3 | Gain | - |
| NTNG2 | p.G144S | Missense | SNP | 0.524 | 2 | - | - |
| NTRK1 | p.R347H | Missense | SNP | 0.511 | 2 | - | - |
| NUDT13 | - | - | - | - | 3 | Gain | - |
| NUDT5 | - | - | - | - | 3 | Gain | - |
| NUP133 | p.K968del | In_Frame_Del | DEL | 0.513 | 2 | - | - |
| NXN | p.A140T | Missense | SNP | 0.490 | 2 | - | - |
| NXPH4 | p.G210Afs*166 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
| OAT | - | - | - | - | 3 | Gain | - |
| OBSCN | p.G2909E | Missense | SNP | 0.542 | 2 | - | - |
| OGA | - | - | - | - | 3 | Gain | - |
| OGDHL | - | - | - | - | 3 | Gain | - |
| OIT3 | - | - | - | - | 3 | Gain | - |
| OLAH | - | - | - | - | 3 | Gain | - |
| ONECUT2 | - | - | - | - | 3 | Gain | - |
| OPALIN | - | - | - | - | 3 | Gain | - |
| OPN4 | - | - | - | - | 3 | Gain | - |
| OPRK1 | p.G13D | Missense | SNP | 0.611 | 2 | - | - |
| OPTN | - | - | - | - | 3 | Gain | - |
| OR10C1 | p.A231V | Missense | SNP | 0.454 | 2 | - | - |
| OR13A1 | - | - | - | - | 3 | Gain | - |
| OR13C3 | p.A149T | Missense | SNP | 0.450 | 2 | - | - |
| OR13H1 | p.R298W | Missense | SNP | 0.439 | ND | ND | - |
| OR14C36 | p.F105Lfs*28 | Frame_Shift_Del | DEL | 0.414 | 2 | - | - |
| OR1A2 | p.R122* | Nonsense | SNP | 0.503 | 2 | - | - |
| OR1S2 | p.I26T | Missense | SNP | 0.524 | 2 | - | - |
| OR2J2 | p.N6Mfs*21 | Frame_Shift_Del | DEL | 0.398 | 2 | - | - |
| OR4C12 | p.R258C | Missense | SNP | 0.556 | 2 | - | - |
| OR4D6 | p.T241M | Missense | SNP | 0.484 | 2 | - | - |
| OR4D9 | p.S116C | Missense | SNP | 0.561 | 2 | - | - |
| OR4L1 | p.K228Nfs*55 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
| OR51B5 | p.M63I | Missense | SNP | 0.435 | 2 | - | - |
| OR6C75 | p.R221W | Missense | SNP | 0.458 | 2 | - | - |
| OR6N1 | p.R165C | Missense | SNP | 0.466 | 2 | - | - |
| OR8K3 | p.F311Lfs*? | Frame_Shift_Del | DEL | 0.388 | 2 | - | - |
| ORMDL3 | p.G21D | Missense | SNP | 0.569 | 2 | - | - |
| OSBPL1A | - | - | - | - | 3 | Gain | - |
| OSBPL2 | p.I182Sfs*68 | Frame_Shift_Del | DEL | 0.116 | 2 | - | - |
| OTUD1 | - | - | - | - | 3 | Gain | - |
| OTUD4 | p.E908Nfs*5 | Frame_Shift_Del | DEL | 0.398 | 2 | - | - |
| P2RX5 | p.Y338C | Missense | SNP | 0.516 | 2 | - | - |
| P3H2 | p.K430Sfs*6 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
| P4HA1 | - | - | - | - | 3 | Gain | - |
| P4HTM | p.L416Cfs*6 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
| PALD1 | - | - | - | - | 3 | Gain | - |
| PANK1 | - | - | - | - | 3 | Gain | - |
| PAOX | - | - | - | - | 3 | Gain | - |
| PAPSS2 | - | - | - | - | 3 | Gain | - |
| PARD3 | - | - | - | - | 3 | Gain | - |
| PARD3B | p.R932G | Missense | SNP | 0.550 | 2 | - | - |
| PARD6G | - | - | - | - | 3 | Gain | - |
| PARG | - | - | - | - | 3 | Gain | - |
| PARP9 | p.A55T | Missense | SNP | 0.400 | 2 | - | - |
| PAX2 | - | - | - | - | 3 | Gain | - |
| PAX7 | p.A259V | Missense | SNP | 0.562 | 2 | - | - |
| PBLD | - | - | - | - | 3 | Gain | - |
| PBX1 | p.G124R | Missense | SNP | 0.482 | 2 | - | - |
| PC | p.R453Q | Missense | SNP | 0.432 | 2 | - | - |
| PCBD1 | - | - | - | - | 3 | Gain | - |
| PCDH12 | p.L685Yfs*7 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
| PCDH15 | p.K1416N | Missense | SNP | 0.120 | 3 | Gain | - |
| PCDHA2 | p.A2V | Missense | SNP | 0.428 | 2 | - | - |
| PCDHA4 | p.A686T | Missense | SNP | 0.527 | 2 | - | - |
| PCDHA6 | p.R428W | Missense | SNP | 0.531 | 2 | - | - |
| PCDHB16 | p.I142Yfs*7 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
| PCDHB4 | p.G536S | Missense | SNP | 0.439 | 2 | - | - |
| PCDHGA3 | p.A578V | Missense | SNP | 0.424 | 2 | - | - |
| PCGF5 | - | - | - | - | 3 | Gain | - |
| PCGF6 | - | - | - | - | 3 | Gain | - |
| PCK1 | p.I612Rfs*5 | Frame_Shift_Ins | INS | 0.278 | 2 | - | - |
| PCLO | p.L2443Vfs*15 p.T1689Qfs*16 p.S3436G p.S1052L | Frame_Shift_Ins Frame_Shift_Del Missense Missense | INS DEL SNP SNP | 0.259 0.479 0.495 0.483 | 2 | - | - |
| PCNX1 | p.E466K | Missense | SNP | 0.469 | 2 | - | - |
| PCSK1N | p.A31Rfs*7 | Frame_Shift_Del | DEL | 0.306 | ND | ND | - |
| PCSK9 | p.R93H | Missense | SNP | 0.487 | 2 | - | - |
| PCYOX1 | p.R484C | Missense | SNP | 0.457 | 2 | - | - |
| PDCD11 | - | - | - | - | 3 | Gain | - |
| PDCD4 | - | - | - | - | 3 | Gain | - |
| PDE5A | p.H617Y | Missense | SNP | 0.463 | 2 | - | - |
| PDE6C | - | - | - | - | 3 | Gain | - |
| PDLIM1 | - | - | - | - | 3 | Gain | - |
| PDSS1 | - | - | - | - | 3 | Gain | - |
| PDX1 | p.S231P | Missense | SNP | 0.500 | 2 | - | - |
| PDZD2 | p.K104Qfs*38 | Frame_Shift_Ins | INS | 0.275 | 2 | - | - |
| PDZD7 | - | - | - | - | 3 | Gain | - |
| PDZD8 | - | - | - | - | 3 | Gain | - |
| PDZRN3 | p.A947T | Missense | SNP | 0.571 | 2 | - | - |
| PEG3 | p.S403L | Missense | SNP | 0.505 | 2 | - | - |
| PEX5 | p.R241W | Missense | SNP | 0.538 | 2 | - | - |
| PFKFB3 | - | - | - | - | 3 | Gain | - |
| PFKP | p.R265Gfs*2 p.I320V | Frame_Shift_Del Missense | DEL SNP | 0.299 0.652 | 3 | Gain | - |
| PGAM1 | - | - | - | - | 3 | Gain | - |
| PGAP2 | p.R314* | Nonsense | SNP | 0.532 | 2 | - | - |
| PHC2 | p.R656H | Missense | SNP | 0.083 | 2 | - | - |
| PHF13 | p.A145T | Missense | SNP | 0.490 | 2 | - | - |
| PHF21A | p.P652Lfs*104 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
| PHKG2 | p.R71W | Missense | SNP | 0.483 | 2 | - | - |
| PHLPP1 | - | - | - | - | 3 | Gain | - |
| PHYH | - | - | - | - | 3 | Gain | - |
| PHYHIPL | - | - | - | - | 3 | Gain | - |
| PI4K2A | - | - | - | - | 3 | Gain | - |
| PIAS2 | - | - | - | - | 3 | Gain | - |
| PIEZO2 | - | - | - | - | 3 | Gain | - |
| PIGN | - | - | - | - | 3 | Gain | - |
| PIGR | p.R296K | Missense | SNP | 0.143 | 2 | - | - |
| PIK3AP1 | - | - | - | - | 3 | Gain | - |
| PIK3C2A | p.A916T | Missense | SNP | 0.515 | 2 | - | - |
| PIK3C3 | - | - | - | - | 3 | Gain | - |
| PIK3CD | p.C355Y | Missense | SNP | 0.507 | 2 | - | - |
| PIK3R4 | p.V448I | Missense | SNP | 0.483 | 2 | - | - |
| PIP4K2A | - | - | - | - | 3 | Gain | - |
| PIP5KL1 | p.R9Afs*47 | Frame_Shift_Del | DEL | 0.639 | 2 | - | - |
| PITPNM3 | p.R424C | Missense | SNP | 0.467 | 2 | - | - |
| PITRM1 | - | - | - | - | 3 | Gain | - |
| PITX3 | - | - | - | - | 3 | Gain | - |
| PIWIL3 | p.R256H | Missense | SNP | 0.533 | 2 | - | - |
| PKD2 | p.R896H | Missense | SNP | 0.562 | 2 | - | - |
| PKD2L1 | - | - | - | - | 3 | Gain | - |
| PKN2 | p.E854D | Missense | SNP | 0.509 | 2 | - | - |
| PLA2G12B | - | - | - | - | 3 | Gain | - |
| PLAC9 | - | - | - | - | 3 | Gain | - |
| PLAT | p.T46M | Missense | SNP | 0.554 | 2 | - | - |
| PLAU | - | - | - | - | 3 | Gain | - |
| PLCE1 | - | - | - | - | 3 | Gain | - |
| PLD3 | p.A402V | Missense | SNP | 0.505 | 2 | - | - |
| PLD5 | p.V376I | Missense | SNP | 0.454 | 2 | - | - |
| PLEC | p.T3608M p.E2305* p.R609H | Missense Nonsense Missense | SNP SNP SNP | 0.449 0.461 0.527 | 2 | - | - |
| PLEKHA1 | - | - | - | - | 3 | Gain | - |
| PLEKHO1 | p.Q256Rfs*6 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
| PLEKHS1 | - | - | - | - | 3 | Gain | - |
| PLPP4 | - | - | - | - | 3 | Gain | - |
| PLXDC1 | p.R230H | Missense | SNP | 0.170 | 2 | - | - |
| PLXDC2 | - | - | - | - | 3 | Gain | - |
| PLXNA1 | p.D1478N | Missense | SNP | 0.491 | 2 | - | - |
| PMAIP1 | - | - | - | - | 3 | Gain | - |
| PMS2 | p.R199C | Missense | SNP | 0.461 | 2 | - | - |
| PNISR | p.R697Gfs*15 | Frame_Shift_Del | DEL | 0.557 | 2 | - | - |
| PNLIP | - | - | - | - | 3 | Gain | - |
| PNLIPRP1 | - | - | - | - | 3 | Gain | - |
| PNLIPRP2 | - | - | - | - | 3 | Gain | - |
| PNLIPRP3 | - | - | - | - | 3 | Gain | - |
| PNPLA2 | p.A432T | Missense | SNP | 0.570 | 2 | - | - |
| POLI | - | - | - | - | 3 | Gain | - |
| POLL | - | - | - | - | 3 | Gain | - |
| POLR3A | - | - | - | - | 3 | Gain | - |
| POTEC | - | - | - | - | 3 | Gain | - |
| POU2F2 | p.S577G | Missense | SNP | 0.414 | 2 | - | - |
| PPA1 | - | - | - | - | 3 | Gain | - |
| PPDPF | p.R55Afs*59 | Frame_Shift_Del | DEL | 0.527 | 2 | - | - |
| PPFIA2 | p.R50W | Missense | SNP | 0.493 | 2 | - | - |
| PPHLN1 | p.E370G | Missense | SNP | 0.485 | 2 | - | - |
| PPIF | - | - | - | - | 3 | Gain | - |
| PPIL1 | p.R72* | Nonsense | SNP | 0.460 | 2 | - | - |
| PPL | p.R419Q | Missense | SNP | 0.548 | 2 | - | - |
| PPP1R12C | p.I373Sfs*51 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| PPP1R3C | - | - | - | - | 3 | Gain | - |
| PPP2R1A | p.T524M | Missense | SNP | 0.484 | 2 | - | - |
| PPP2R2D | - | - | - | - | 3 | Gain | - |
| PPP3CB | - | - | - | - | 3 | Gain | - |
| PPP4R1 | - | - | - | - | 3 | Gain | - |
| PPRC1 | - | - | - | - | 3 | Gain | - |
| PQLC1 | - | - | - | - | 3 | Gain | - |
| PRAP1 | - | - | - | - | 3 | Gain | - |
| PRDM2 | p.Y554C | Missense | SNP | 0.160 | 2 | - | - |
| PRDX3 | - | - | - | - | 3 | Gain | - |
| PRELID3A | - | - | - | - | 3 | Gain | - |
| PRELP | p.N334Qfs*8 | Frame_Shift_Ins | INS | 0.357 | 2 | - | - |
| PRF1 | - | - | - | - | 3 | Gain | - |
| PRG4 | p.T367I | Missense | SNP | 0.475 | 2 | - | - |
| PRICKLE3 | p.Q533R | Missense | SNP | 0.564 | ND | ND | - |
| PRKCDBP | p.G182R | Missense | SNP | 0.492 | ND | ND | - |
| PRKCI | p.R192W | Missense | SNP | 0.375 | 2 | - | - |
| PRKCQ | - | - | - | - | 3 | Gain | - |
| PRKG1 | - | - | - | - | 3 | Gain | - |
| PRLHR | - | - | - | - | 3 | Gain | - |
| PRMT2 | p.A23V | Missense | SNP | 0.434 | 2 | - | - |
| PROM2 | p.E728Vfs*17 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
| PROSC | p.Q71H | Missense | SNP | 0.504 | ND | ND | - |
| PROSER2 | - | - | - | - | 3 | Gain | - |
| PRPF18 | - | - | - | - | 3 | Gain | - |
| PRPF40B | p.P40L p.R491* | Missense Nonsense | SNP SNP | 0.435 0.481 | 2 | - | - |
| PRPF8 | p.R49W | Missense | SNP | 0.556 | 2 | - | - |
| PRR12 | p.F1281L | Missense | SNP | 0.509 | 2 | - | - |
| PRR14L | p.F1767del | In_Frame_Del | DEL | 0.461 | 2 | - | - |
| PRR26 | - | - | - | - | 3 | Gain | - |
| PRR35 | p.A246Gfs*88 | Frame_Shift_Ins | INS | 0.267 | 2 | - | - |
| PRRT2 | p.R217Pfs*8 | Frame_Shift_Ins | INS | 0.212 | 2 | - | - |
| PRSS33 | p.Q70Sfs*4 | Frame_Shift_Del | DEL | 0.109 | 2 | - | - |
| PRTFDC1 | - | - | - | - | 3 | Gain | - |
| PRXL2A | - | - | - | - | 3 | Gain | - |
| PSAP | - | - | - | - | 3 | Gain | - |
| PSD | - | - | - | - | 3 | Gain | - |
| PSEN1 | p.S178Hfs*24 | Frame_Shift_Del | DEL | 0.419 | 2 | - | - |
| PSG2 | p.A263V | Missense | SNP | 0.490 | 2 | - | - |
| PSMA8 | - | - | - | - | 3 | Gain | - |
| PSMC5 | p.E396G | Missense | SNP | 0.505 | 2 | - | - |
| PSMG2 | - | - | - | - | 3 | Gain | - |
| PSTK | - | - | - | - | 3 | Gain | - |
| PSTPIP2 | - | - | - | - | 3 | Gain | - |
| PTCHD3 | - | - | - | - | 3 | Gain | - |
| PTEN | - | - | - | - | 3 | Gain | - |
| PTER | - | - | - | - | 3 | Gain | - |
| PTF1A | - | - | - | - | 3 | Gain | - |
| PTK2B | p.T603M | Missense | SNP | 0.519 | 2 | - | - |
| PTOV1 | p.*417Sfs*14 | Frame_Shift_Del | DEL | 0.367 | 2 | - | - |
| PTPN2 | - | - | - | - | 3 | Gain | - |
| PTPN20 | - | - | - | - | 3 | Gain | - |
| PTPN5 | p.P470Hfs*56 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
| PTPRCAP | p.V145M | Missense | SNP | 0.487 | 2 | - | - |
| PTPRD | p.V1848I p.R401W | Missense Missense | SNP SNP | 0.542 0.559 | 2 | - | - |
| PTPRE | - | - | - | - | 3 | Gain | - |
| PTPRK | p.Y1057Tfs*61 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
| PTPRM | p.R1375C | Missense | SNP | 0.086 | 3 | Gain | - |
| PTPRT | p.P372L | Missense | SNP | 0.500 | 2 | - | - |
| PUM1 | p.R922Q | Missense | SNP | 0.472 | 2 | - | - |
| PWWP2B | - | - | - | - | 3 | Gain | - |
| PYROXD2 | - | - | - | - | 3 | Gain | - |
| QKI | p.A273V | Missense | SNP | 0.446 | 2 | - | - |
| QSER1 | p.N1697Mfs*4 | Frame_Shift_Del | DEL | 0.508 | 2 | - | - |
| R3HCC1L | - | - | - | - | 3 | Gain | - |
| RAB11FIP2 | - | - | - | - | 3 | Gain | - |
| RAB11FIP4 | p.T257M | Missense | SNP | 0.498 | 2 | - | - |
| RAB12 | - | - | - | - | 3 | Gain | - |
| RAB18 | p.P4S | Missense | SNP | 0.250 | 3 | Gain | - |
| RAB27B | - | - | - | - | 3 | Gain | - |
| RAB31 | - | - | - | - | 3 | Gain | - |
| RAB40C | p.K261N | Missense | SNP | 0.558 | 2 | - | - |
| RAB4B | p.R129W | Missense | SNP | 0.506 | 2 | - | - |
| RADIL | p.A743V p.V165M | Missense Missense | SNP SNP | 0.505 0.440 | 2 | - | - |
| RAI2 | p.V474M | Missense | SNP | 0.466 | ND | ND | - |
| RALBP1 | - | - | - | - | 3 | Gain | - |
| RALGAPB | p.F971Sfs*53 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
| RALGDS | p.S675Afs*145 | Frame_Shift_Del | DEL | 0.573 | 2 | - | - |
| RANBP17 | p.N641Tfs*35 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
| RANBP3 | p.T292M | Missense | SNP | 0.544 | 2 | - | - |
| RANGAP1 | p.G21Dfs*3 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
| RAPGEF4 | p.E389Kfs*10 | Frame_Shift_Del | DEL | 0.541 | 2 | - | - |
| RASAL3 | p.R39H | Missense | SNP | 0.455 | 2 | - | - |
| RASGEF1A | - | - | - | - | 3 | Gain | - |
| RASGRP3 | p.R549Q | Missense | SNP | 0.548 | 2 | - | - |
| RASL11B | p.R109C | Missense | SNP | 0.531 | 2 | - | - |
| RASSF4 | - | - | - | - | 3 | Gain | - |
| RASSF9 | p.R166Q | Missense | SNP | 0.507 | 2 | - | - |
| RAX | - | - | - | - | 3 | Gain | - |
| RB1CC1 | p.K964Sfs*13 | Frame_Shift_Del | DEL | 0.056 | 2 | - | - |
| RBBP8 | - | - | - | - | 3 | Gain | - |
| RBFA | - | - | - | - | 3 | Gain | - |
| RBM14 | p.F191Lfs*40 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
| RBM17 | - | - | - | - | 3 | Gain | - |
| RBM20 | p.R1057Q | Missense | SNP | 0.689 | 3 | Gain | - |
| RBM27 | p.K816Nfs*5 | Frame_Shift_Del | DEL | 0.567 | 2 | - | - |
| RBM43 | p.I136Sfs*4 | Frame_Shift_Del | DEL | 0.454 | 2 | - | - |
| RBM46 | p.R266W | Missense | SNP | 0.423 | 2 | - | - |
| RBM47 | p.G112S | Missense | SNP | 0.487 | 2 | - | - |
| RBM48 | p.P217H | Missense | SNP | 0.500 | 2 | - | - |
| RBM4B | p.P154Lfs*24 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
| RBP3 | - | - | - | - | 3 | Gain | - |
| RBP4 | - | - | - | - | 3 | Gain | - |
| RCAN3 | p.A151S | Missense | SNP | 0.543 | 2 | - | - |
| RCC1 | p.R33H | Missense | SNP | 0.456 | 2 | - | - |
| RDH10 | . | Missense | DEL | 0.440 | 2 | - | - |
| RECQL4 | p.A207Pfs*6 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
| REEP3 | - | - | - | - | 3 | Gain | - |
| RELA | p.H487Pfs*4 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
| RELCH | - | - | - | - | 3 | Gain | - |
| RERE | p.P940L | Missense | SNP | 0.453 | 2 | - | - |
| RET | - | - | - | - | 3 | Gain | - |
| RETSAT | p.A586T | Missense | SNP | 0.316 | 2 | - | - |
| RGR | - | - | - | - | 3 | Gain | - |
| RGS10 | p.G110R | Missense | SNP | 0.322 | 3 | Gain | - |
| RGS12 | p.P1357L | Missense | SNP | 0.508 | 2 | - | - |
| RHOBTB1 | - | - | - | - | 3 | Gain | - |
| RHOXF1 | p.D174Tfs*22 | Frame_Shift_Del | DEL | 0.409 | ND | ND | - |
| RINT1 | p.P247Lfs*8 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
| RIOK3 | - | - | - | - | 3 | Gain | - |
| RIPK4 | p.A147T | Missense | SNP | 0.508 | 2 | - | - |
| RIT2 | - | - | - | - | 3 | Gain | - |
| RLF | p.R721* | Nonsense | SNP | 0.551 | 2 | - | - |
| RMC1 | - | - | - | - | 3 | Gain | - |
| RNF113B | p.G104V | Missense | SNP | 0.514 | 2 | - | - |
| RNF121 | p.R194W | Missense | SNP | 0.427 | 2 | - | - |
| RNF125 | - | - | - | - | 3 | Gain | - |
| RNF128 | p.R6M | Missense | SNP | 0.292 | ND | ND | - |
| RNF138 | - | - | - | - | 3 | Gain | - |
| RNF145 | p.K26E | Missense | SNP | 0.193 | 2 | - | - |
| RNF152 | - | - | - | - | 3 | Gain | - |
| RNF165 | - | - | - | - | 3 | Gain | - |
| RNLS | - | - | - | - | 3 | Gain | - |
| RNMT | - | - | - | - | 3 | Gain | - |
| RNU5B-1 | - | - | - | - | ND | ND | AC005324.4--RNU5B-1 |
| ROBO2 | p.K720Rfs*3 p.L601P | Frame_Shift_Del Missense | DEL SNP | 0.455 0.482 | 2 | - | - |
| ROCK1 | - | - | - | - | 3 | Gain | - |
| ROS1 | p.V2276A p.G1915R p.T1670S | Missense Missense Missense | SNP SNP SNP | 0.421 0.463 0.454 | 2 | - | - |
| RP11-310K10.1 | p.A353T | Missense | SNP | 0.434 | ND | ND | - |
| RPEL1 | - | - | - | - | 3 | Gain | - |
| RPL17 | - | - | - | - | 3 | Gain | - |
| RPL17-C18orf32 | - | - | - | - | 3 | Gain | - |
| RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
| RPL3L | p.A75V | Missense | SNP | 0.487 | 2 | - | - |
| RPL7A | p.K11del | In_Frame_Del | DEL | 0.529 | 2 | - | - |
| RPP30 | - | - | - | - | 3 | Gain | - |
| RPP38 | - | - | - | - | 3 | Gain | - |
| RPRD1A | - | - | - | - | 3 | Gain | - |
| RPS24 | - | - | - | - | 3 | Gain | - |
| RPSA | - | - | - | - | 2 | - | RPSA--TUBA1A |
| RRP12 | - | - | - | - | 3 | Gain | - |
| RSU1 | - | - | - | - | 3 | Gain | - |
| RTCA | p.T334M | Missense | SNP | 0.535 | 2 | - | - |
| RTF1 | p.R333* | Nonsense | SNP | 0.486 | 2 | - | - |
| RTKN2 | - | - | - | - | 3 | Gain | - |
| RTTN | - | - | - | - | 3 | Gain | - |
| RUFY2 | - | - | - | - | 3 | Gain | - |
| SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
| SALL3 | p.T658M | Missense | SNP | 0.641 | 3 | Gain | - |
| SAMD8 | - | - | - | - | 3 | Gain | - |
| SAR1A | - | - | - | - | 3 | Gain | - |
| SCAF1 | p.T1181Pfs*28 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
| SCART1 | - | - | - | - | 3 | Gain | - |
| SCD | - | - | - | - | 3 | Gain | - |
| SCN10A | p.P633H | Missense | SNP | 0.526 | 2 | - | - |
| SCN4A | p.W1002* | Nonsense | SNP | 0.452 | 2 | - | - |
| SCN8A | p.W942C | Missense | SNP | 0.652 | 2 | - | - |
| SCRIB | p.F1211L | Missense | SNP | 0.505 | 2 | - | - |
| SCX | - | - | - | - | 1 | Loss | - |
| SDK1 | p.R140C | Missense | SNP | 0.268 | 2 | - | - |
| SEC11C | - | - | - | - | 3 | Gain | - |
| SEC14L5 | p.A349V | Missense | SNP | 0.513 | 2 | - | - |
| SEC16B | p.V643M | Missense | SNP | 0.544 | 2 | - | - |
| SEC23IP | - | - | - | - | 3 | Gain | - |
| SEC24C | - | - | - | - | 3 | Gain | - |
| SEC31B | - | - | - | - | 3 | Gain | - |
| SEC61A2 | - | - | - | - | 3 | Gain | - |
| SEH1L | - | - | - | - | 3 | Gain | - |
| SELP | p.V501I | Missense | SNP | 0.417 | 2 | - | - |
| SEMA4G | - | - | - | - | 3 | Gain | - |
| SEMA5B | p.P325L | Missense | SNP | 0.667 | 2 | - | - |
| SEMG1 | p.A241V | Missense | SNP | 0.430 | 2 | - | - |
| SENP6 | p.R1072* | Nonsense | SNP | 0.521 | 2 | - | - |
| SENP7 | p.K545Nfs*11 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
| SEPHS1 | - | - | - | - | 3 | Gain | - |
| SERAC1 | p.V8I | Missense | SNP | 0.463 | 2 | - | - |
| SERPINB10 | - | - | - | - | 3 | Gain | - |
| SERPINB11 | - | - | - | - | 3 | Gain | - |
| SERPINB12 | - | - | - | - | 3 | Gain | - |
| SERPINB13 | - | - | - | - | 3 | Gain | - |
| SERPINB2 | - | - | - | - | 3 | Gain | - |
| SERPINB3 | - | - | - | - | 3 | Gain | - |
| SERPINB4 | - | - | - | - | 3 | Gain | - |
| SERPINB5 | - | - | - | - | 3 | Gain | - |
| SERPINB7 | - | - | - | - | 3 | Gain | - |
| SERPINB8 | - | - | - | - | 3 | Gain | - |
| SERPINE1 | p.A97T | Missense | SNP | 0.354 | 2 | - | - |
| SESTD1 | p.T534M | Missense | SNP | 0.545 | 2 | - | - |
| SETBP1 | - | - | - | - | 3 | Gain | - |
| SETD1B | p.H8Tfs*27 p.S291N | Frame_Shift_Del Missense | DEL SNP | 0.585 0.478 | 2 | - | - |
| SETD5 | p.S1286Lfs*37 | Frame_Shift_Ins | INS | 0.316 | 2 | - | - |
| SEZ6L2 | p.T77M | Missense | SNP | 0.459 | 2 | - | - |
| SFMBT2 | - | - | - | - | 3 | Gain | - |
| SFR1 | - | - | - | - | 3 | Gain | - |
| SFRP5 | - | - | - | - | 3 | Gain | - |
| SFTPA1 | - | - | - | - | 3 | Gain | - |
| SFTPA2 | - | - | - | - | 3 | Gain | - |
| SFTPD | - | - | - | - | 3 | Gain | - |
| SFXN2 | p.D75G | Missense | SNP | 0.200 | 3 | Gain | - |
| SFXN3 | - | - | - | - | 3 | Gain | - |
| SFXN4 | - | - | - | - | 3 | Gain | - |
| SGMS1 | - | - | - | - | 3 | Gain | - |
| SGO1 | p.R522Efs*39 p.M325Cfs*28 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.565 0.443 | 2 | - | - |
| SGPL1 | - | - | - | - | 3 | Gain | - |
| SH2D4B | - | - | - | - | 3 | Gain | - |
| SH3PXD2A | - | - | - | - | 3 | Gain | - |
| SHC2 | p.P407Rfs*37 | Frame_Shift_Del | DEL | 0.380 | 2 | - | - |
| SHISA7 | p.G359Afs*178 | Frame_Shift_Del | DEL | 0.362 | 2 | - | - |
| SHLD2 | - | - | - | - | 3 | Gain | - |
| SHOC2 | - | - | - | - | 3 | Gain | - |
| SHROOM2 | p.R753Q | Missense | SNP | 0.531 | ND | ND | - |
| SHROOM3 | p.A1622T | Missense | SNP | 0.430 | 2 | - | - |
| SHROOM4 | p.K1314Rfs*23 p.R242C | Frame_Shift_Del Missense | DEL SNP | 0.510 0.490 | ND | ND | - |
| SHTN1 | - | - | - | - | 3 | Gain | - |
| SIGLEC15 | - | - | - | - | 3 | Gain | - |
| SIPA1L3 | p.A460T | Missense | SNP | 0.554 | 2 | - | - |
| SIRT1 | - | - | - | - | 3 | Gain | - |
| SIX5 | p.A625Pfs*31 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
| SKA1 | - | - | - | - | 3 | Gain | - |
| SKIDA1 | - | - | - | - | 3 | Gain | - |
| SKOR2 | - | - | - | - | 3 | Gain | - |
| SLC11A1 | p.A88V | Missense | SNP | 0.072 | 2 | - | - |
| SLC14A1 | - | - | - | - | 3 | Gain | - |
| SLC14A2 | - | - | - | - | 3 | Gain | - |
| SLC16A12 | - | - | - | - | 3 | Gain | - |
| SLC16A2 | p.G147R | Missense | SNP | 0.640 | ND | ND | - |
| SLC16A9 | - | - | - | - | 3 | Gain | - |
| SLC18A2 | - | - | - | - | 3 | Gain | - |
| SLC18A3 | - | - | - | - | 3 | Gain | - |
| SLC19A3 | p.R277H | Missense | SNP | 0.454 | 2 | - | - |
| SLC1A7 | p.R11Gfs*27 p.T406I | Frame_Shift_Del Missense | DEL SNP | 0.519 0.522 | 2 | - | - |
| SLC22A16 | p.T87M | Missense | SNP | 0.503 | 2 | - | - |
| SLC22A18 | p.T93M | Missense | SNP | 0.432 | 2 | - | - |
| SLC22A3 | p.R407H | Missense | SNP | 0.507 | 2 | - | - |
| SLC22A6 | p.R192W | Missense | SNP | 0.358 | 2 | - | - |
| SLC25A16 | - | - | - | - | 3 | Gain | - |
| SLC25A24 | p.G192R | Missense | SNP | 0.506 | 2 | - | - |
| SLC25A28 | - | - | - | - | 3 | Gain | - |
| SLC25A52 | - | - | - | - | 3 | Gain | - |
| SLC26A1 | p.R365H | Missense | SNP | 0.449 | 2 | - | - |
| SLC29A3 | - | - | - | - | 3 | Gain | - |
| SLC30A8 | p.S183R | Missense | SNP | 0.496 | 2 | - | - |
| SLC35B2 | p.A411V | Missense | SNP | 0.094 | 2 | - | - |
| SLC35G1 | - | - | - | - | 3 | Gain | - |
| SLC35G4 | - | - | - | - | 3 | Gain | - |
| SLC39A12 | - | - | - | - | 3 | Gain | - |
| SLC39A13 | p.A279T | Missense | SNP | 0.543 | 2 | - | - |
| SLC39A6 | - | - | - | - | 3 | Gain | - |
| SLC44A4 | p.V238Wfs*5 | Frame_Shift_Del | DEL | 0.386 | 2 | - | - |
| SLC45A1 | p.P494L | Missense | SNP | 0.453 | 2 | - | - |
| SLC5A6 | p.R142* | Nonsense | SNP | 0.492 | 2 | - | - |
| SLC7A10 | p.T158Pfs*12 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
| SLC9C1 | p.F10Sfs*11 | Frame_Shift_Del | DEL | 0.342 | 2 | - | - |
| SLCO1C1 | p.A588V | Missense | SNP | 0.475 | 2 | - | - |
| SLCO4A1 | p.T297M | Missense | SNP | 0.560 | 2 | - | - |
| SLF1 | p.R126K | Missense | SNP | 0.473 | 2 | - | - |
| SLF2 | - | - | - | - | 3 | Gain | - |
| SLIT1 | p.R1481H | Missense | SNP | 0.324 | 3 | Gain | - |
| SLITRK5 | p.N762Tfs*12 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
| SLK | - | - | - | - | 3 | Gain | - |
| SMAD2 | - | - | - | - | 3 | Gain | - |
| SMAD4 | - | - | - | - | 3 | Gain | - |
| SMAD7 | - | - | - | - | 3 | Gain | - |
| SMARCA1 | p.K57del | In_Frame_Del | DEL | 0.402 | ND | ND | - |
| SMARCA4 | p.G271Rfs*16 p.G911D p.R1157Q | Frame_Shift_Ins Missense Missense | INS SNP SNP | 0.320 0.500 0.487 | 2 | - | - |
| SMARCD1 | p.R503* | Nonsense | SNP | 0.523 | 2 | - | - |
| SMC2 | p.K368E | Missense | SNP | 0.464 | 2 | - | - |
| SMC3 | - | - | - | - | 3 | Gain | - |
| SMCHD1 | - | - | - | - | 3 | Gain | - |
| SMIM21 | - | - | - | - | 3 | Gain | - |
| SMNDC1 | - | - | - | - | 3 | Gain | - |
| SMPD4 | - | - | - | - | 1 | Loss | - |
| SMPX | p.R34Qfs*8 | Frame_Shift_Ins | INS | 0.312 | ND | ND | - |
| SMYD4 | p.S737G | Missense | SNP | 0.515 | 2 | - | - |
| SNCG | - | - | - | - | 3 | Gain | - |
| SND1 | p.R539H | Missense | SNP | 0.504 | 2 | - | - |
| SNED1 | p.P701Rfs*4 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
| SNHG1 | - | - | - | - | ND | ND | SNHG1--ATP5F1E |
| SNRPB | p.R25W | Missense | SNP | 0.538 | 2 | - | - |
| SNRPD1 | - | - | - | - | 3 | Gain | - |
| SNW1 | p.Q15H | Missense | SNP | 0.667 | 2 | - | - |
| SNX13 | p.R854I | Missense | SNP | 0.474 | 2 | - | - |
| SOCS6 | - | - | - | - | 3 | Gain | - |
| SORBS1 | - | - | - | - | 3 | Gain | - |
| SORCS1 | - | - | - | - | 3 | Gain | - |
| SORCS3 | - | - | - | - | 3 | Gain | - |
| SORL1 | p.M1581Cfs*34 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
| SOS1 | p.K1030Nfs*6 | Frame_Shift_Del | DEL | 0.342 | 2 | - | - |
| SP110 | p.F623Lfs*28 | Frame_Shift_Del | DEL | 0.258 | 2 | - | - |
| SPAG5 | p.R259C | Missense | SNP | 0.450 | 2 | - | - |
| SPAG6 | - | - | - | - | 3 | Gain | - |
| SPATA13 | p.R896H | Missense | SNP | 0.523 | 2 | - | - |
| SPATA22 | p.N194Tfs*30 | Frame_Shift_Del | DEL | 0.410 | 2 | - | - |
| SPATA31A1 | p.S1009Y | Missense | SNP | 0.450 | 2 | - | - |
| SPEN | p.V1907I | Missense | SNP | 0.448 | 2 | - | - |
| SPIRE1 | - | - | - | - | 3 | Gain | - |
| SPNS2 | p.G79Afs*91 | Frame_Shift_Del | DEL | 0.323 | 2 | - | - |
| SPOCK2 | - | - | - | - | 3 | Gain | - |
| SPON1 | p.R758C | Missense | SNP | 0.441 | 2 | - | - |
| SPON2 | p.T209M | Missense | SNP | 0.497 | 2 | - | - |
| SPRN | - | - | - | - | 3 | Gain | - |
| SPTAN1 | p.R474W | Missense | SNP | 0.560 | 2 | - | - |
| SPTBN4 | p.C355Y | Missense | SNP | 0.376 | 2 | - | - |
| SREBF1 | p.A1026T | Missense | SNP | 0.636 | 2 | - | - |
| SRGAP3 | p.R585Q | Missense | SNP | 0.481 | 2 | - | - |
| SRGN | - | - | - | - | 3 | Gain | - |
| SRPRA | p.K170Rfs*33 | Frame_Shift_Del | DEL | 0.540 | 2 | - | - |
| SS18 | - | - | - | - | 3 | Gain | - |
| SSRP1 | p.R463W | Missense | SNP | 0.547 | 2 | - | - |
| SSTR3 | p.R161Afs*28 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
| SSTR4 | p.G11Afs*61 p.R252C | Frame_Shift_Del Missense | DEL SNP | 0.511 0.521 | 2 | - | - |
| SSU72 | p.D50N | Missense | SNP | 0.547 | 2 | - | - |
| SSX5 | p.R181H | Missense | SNP | 0.512 | ND | ND | - |
| ST8SIA3 | - | - | - | - | 3 | Gain | - |
| ST8SIA5 | - | - | - | - | 3 | Gain | - |
| ST8SIA6 | - | - | - | - | 3 | Gain | - |
| STAB1 | p.E1712Rfs*8 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
| STAG2 | p.R1195C | Missense | SNP | 0.498 | ND | ND | - |
| STAM | - | - | - | - | 3 | Gain | - |
| STAMBPL1 | - | - | - | - | 3 | Gain | - |
| STARD6 | - | - | - | - | 3 | Gain | - |
| STAT5B | p.R430H | Missense | SNP | 0.574 | 2 | - | - |
| STK32C | - | - | - | - | 3 | Gain | - |
| STK38 | p.F382Lfs*70 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
| STMN4 | p.R205Q | Missense | SNP | 0.463 | 2 | - | - |
| STN1 | - | - | - | - | 3 | Gain | - |
| STOX1 | - | - | - | - | 3 | Gain | - |
| STRBP | p.R289* | Nonsense | SNP | 0.500 | 2 | - | - |
| SUFU | p.R224Q | Missense | SNP | 0.379 | 3 | Gain | - |
| SULT1C3 | p.E76K | Missense | SNP | 0.470 | 2 | - | - |
| SULT6B1 | p.K48Sfs*21 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
| SUPT20H | p.R506Q | Missense | SNP | 0.052 | 2 | - | - |
| SUPT5H | p.Y564H p.R700Q | Missense Missense | SNP SNP | 0.431 0.524 | 2 | - | - |
| SUPV3L1 | - | - | - | - | 3 | Gain | - |
| SURF2 | p.R28M | Missense | SNP | 0.482 | 2 | - | - |
| SURF6 | p.R216H | Missense | SNP | 0.500 | 2 | - | - |
| SUV39H2 | - | - | - | - | 3 | Gain | - |
| SVIL | - | - | - | - | 3 | Gain | - |
| SVOPL | p.F95Lfs*36 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
| SYCE1 | - | - | - | - | 3 | Gain | - |
| SYNPO | p.S750N | Missense | SNP | 0.219 | 2 | - | - |
| SYNPO2L | - | - | - | - | 3 | Gain | - |
| SYT15 | - | - | - | - | 3 | Gain | - |
| SYT4 | - | - | - | - | 3 | Gain | - |
| SYTL4 | p.P75L | Missense | SNP | 0.451 | ND | ND | - |
| TACC1 | p.K261Qfs*9 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
| TACC2 | - | - | - | - | 3 | Gain | - |
| TACR2 | - | - | - | - | 3 | Gain | - |
| TAF1B | p.S471Afs*28 | Frame_Shift_Del | DEL | 0.386 | 2 | - | - |
| TAF3 | - | - | - | - | 3 | Gain | - |
| TAF4 | p.X588_splice | Splice_Site | SNP | 0.460 | 2 | - | - |
| TAF4B | - | - | - | - | 3 | Gain | - |
| TAF5 | - | - | - | - | 3 | Gain | - |
| TAOK3 | p.A784V | Missense | SNP | 0.475 | 2 | - | - |
| TAS1R2 | p.R226H | Missense | SNP | 0.490 | 2 | - | - |
| TBATA | - | - | - | - | 3 | Gain | - |
| TBC1D10C | p.A321Rfs*100 | Frame_Shift_Del | DEL | 0.095 | 2 | - | - |
| TBC1D12 | - | - | - | - | 3 | Gain | - |
| TBC1D23 | p.K649Nfs*18 | Frame_Shift_Del | DEL | 0.370 | 2 | - | - |
| TCEAL4 | p.A16V | Missense | SNP | 0.377 | ND | ND | - |
| TCERG1L | - | - | - | - | 3 | Gain | - |
| TCF3 | p.R609W | Missense | SNP | 0.497 | 2 | - | - |
| TCF4 | - | - | - | - | 3 | Gain | - |
| TCF7L2 | p.K466E | Missense | SNP | 0.285 | 3 | Gain | - |
| TCP11L2 | p.L308P | Missense | SNP | 0.523 | 2 | - | - |
| TCTN3 | - | - | - | - | 3 | Gain | - |
| TDRD1 | - | - | - | - | 3 | Gain | - |
| TEAD2 | p.H299Mfs*12 | Frame_Shift_Del | DEL | 0.955 | 2 | - | - |
| TECTB | - | - | - | - | 3 | Gain | - |
| TET1 | - | - | - | - | 3 | Gain | - |
| TEX264 | p.R203W | Missense | SNP | 0.531 | 2 | - | - |
| TEX36 | - | - | - | - | 3 | Gain | - |
| TFAM | p.E148Sfs*2 | Frame_Shift_Del | DEL | 0.435 | 3 | Gain | - |
| TFCP2 | p.R257Q | Missense | SNP | 0.518 | 2 | - | - |
| TGIF1 | - | - | - | - | 3 | Gain | - |
| TGM1 | p.R46C | Missense | SNP | 0.535 | 2 | - | - |
| THAP8 | p.L116Cfs*15 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
| THNSL1 | - | - | - | - | 3 | Gain | - |
| THOC1 | - | - | - | - | 3 | Gain | - |
| THSD7B | p.G987C | Missense | SNP | 0.405 | 2 | - | - |
| THYN1 | p.N194Ifs*15 | Frame_Shift_Del | DEL | 0.091 | 2 | - | - |
| TIAL1 | - | - | - | - | 3 | Gain | - |
| TICRR | p.R1086* | Nonsense | SNP | 0.388 | 2 | - | - |
| TIE1 | p.R603H | Missense | SNP | 0.457 | 2 | - | - |
| TIFAB | p.E143D | Missense | SNP | 0.500 | 2 | - | - |
| TIMM21 | - | - | - | - | 3 | Gain | - |
| TIMM23 | - | - | - | - | 3 | Gain | - |
| TIMM23B | - | - | - | - | 3 | Gain | - |
| TJAP1 | p.S361N | Missense | SNP | 0.525 | 2 | - | - |
| TKTL2 | p.G263R p.R24Q | Missense Missense | SNP SNP | 0.506 0.462 | 2 | - | - |
| TLE2 | p.S250Qfs*30 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
| TLL2 | - | - | - | - | 3 | Gain | - |
| TLN2 | p.V1160M p.E2318K | Missense Missense | SNP SNP | 0.465 0.459 | 2 | - | - |
| TLX1 | - | - | - | - | 3 | Gain | - |
| TM6SF2 | p.A201T p.A107V | Missense Missense | SNP SNP | 0.538 0.474 | 2 | - | - |
| TM9SF3 | - | - | - | - | 3 | Gain | - |
| TMED3 | p.V153I | Missense | SNP | 0.495 | 2 | - | - |
| TMEM131 | p.D1577G | Missense | SNP | 0.539 | 2 | - | - |
| TMEM155 | p.S121Ifs*44 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
| TMEM168 | p.R258C | Missense | SNP | 0.519 | 2 | - | - |
| TMEM169 | p.T164M | Missense | SNP | 0.419 | 2 | - | - |
| TMEM181 | p.F186L | Missense | SNP | 0.491 | 2 | - | - |
| TMEM200C | p.P21Qfs*22 | Frame_Shift_Del | DEL | 0.269 | 3 | Gain | - |
| TMEM231 | p.S275N | Missense | SNP | 0.500 | 2 | - | - |
| TMEM236 | - | - | - | - | 3 | Gain | - |
| TMEM239 | p.G136S | Missense | SNP | 0.518 | 2 | - | - |
| TMEM241 | - | - | - | - | 3 | Gain | - |
| TMEM254 | - | - | - | - | 3 | Gain | - |
| TMEM26 | - | - | - | - | 3 | Gain | - |
| TMEM273 | - | - | - | - | 3 | Gain | - |
| TMEM50A | p.R79Q | Missense | SNP | 0.463 | 2 | - | - |
| TMEM72 | - | - | - | - | 3 | Gain | - |
| TMEM92 | p.Y120Tfs*4 | Frame_Shift_Del | DEL | 0.380 | 2 | - | - |
| TMOD3 | p.I97Yfs*23 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
| TMTC2 | p.Q829Tfs*7 | Frame_Shift_Ins | INS | 0.295 | 2 | - | - |
| TMX3 | - | - | - | - | 3 | Gain | - |
| TNFRSF11A | p.P432L | Missense | SNP | 0.665 | 3 | Gain | - |
| TNKS2 | - | - | - | - | 3 | Gain | - |
| TNRC18 | p.A832P | Missense | SNP | 0.449 | 2 | - | - |
| TNRC6C | p.N615Mfs*45 | Frame_Shift_Del | DEL | 0.508 | 2 | - | - |
| TNS1 | p.R1198Q | Missense | SNP | 0.518 | 2 | - | - |
| TOP2A | p.T1205Hfs*19 | Frame_Shift_Del | DEL | 0.515 | 2 | - | - |
| TPCN2 | p.A615T | Missense | SNP | 0.431 | 2 | - | - |
| TPGS2 | - | - | - | - | 3 | Gain | - |
| TRAF2 | p.R486W | Missense | SNP | 0.438 | 2 | - | - |
| TRAF3IP2 | p.P556Lfs*38 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
| TRAF7 | p.S17Afs*111 | Frame_Shift_Del | DEL | 0.502 | 2 | - | - |
| TRAPPC8 | - | - | - | - | 3 | Gain | - |
| TRDMT1 | - | - | - | - | 3 | Gain | - |
| TRHR | p.A78T | Missense | SNP | 0.469 | 2 | - | - |
| TRIM28 | p.R470W | Missense | SNP | 0.550 | 2 | - | - |
| TRIM3 | p.S74L | Missense | SNP | 0.550 | 2 | - | - |
| TRIM36 | p.R44H | Missense | SNP | 0.505 | 2 | - | - |
| TRIM8 | - | - | - | - | 3 | Gain | - |
| TRIO | p.R558C p.L1071P | Missense Missense | SNP SNP | 0.503 0.423 | 2 | - | - |
| TRIOBP | p.R2039W | Missense | SNP | 0.458 | 2 | - | - |
| TRIP12 | p.X378_splice | Splice_Site | SNP | 0.586 | 2 | - | - |
| TRMT5 | p.R432W | Missense | SNP | 0.518 | 2 | - | - |
| TRPM2 | p.A1278T p.R1336C | Missense Missense | SNP SNP | 0.505 0.443 | 2 | - | - |
| TRPM3 | p.T944M | Missense | SNP | 0.431 | 2 | - | - |
| TRUB1 | - | - | - | - | 3 | Gain | - |
| TSHZ1 | - | - | - | - | 3 | Gain | - |
| TSPAN14 | - | - | - | - | 3 | Gain | - |
| TSPAN15 | - | - | - | - | 3 | Gain | - |
| TSPAN5 | p.A192T | Missense | SNP | 0.549 | 2 | - | - |
| TSPEAR | p.R67Afs*3 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
| TSR3 | p.A294Lfs*28 | Frame_Shift_Del | DEL | 0.419 | 2 | - | - |
| TTC14 | p.R459C | Missense | SNP | 0.483 | 2 | - | - |
| TTC16 | p.R86H | Missense | SNP | 0.609 | 2 | - | - |
| TTC30A | p.M601Dfs*5 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| TTC37 | p.Y827* | Nonsense | SNP | 0.561 | 2 | - | - |
| TTC39C | p.A444V | Missense | SNP | 0.614 | 3 | Gain | - |
| TTC6 | p.L540Sfs*19 p.R923H | Frame_Shift_Del Missense | DEL SNP | 0.490 0.475 | 2 | - | - |
| TTC7A | p.T733M | Missense | SNP | 0.408 | 2 | - | - |
| TTN | p.P13097Lfs*12 p.K9807Rfs*5 p.R13727H p.G5061S | Frame_Shift_Del Frame_Shift_Del Missense Missense | DEL DEL SNP SNP | 0.395 0.226 0.452 0.472 | 2 | - | - |
| TTR | - | - | - | - | 3 | Gain | - |
| TUBA1A | - | - | - | - | 2 | - | RPSA--TUBA1A |
| TUBA3E | p.F267S | Missense | SNP | 0.452 | 2 | - | - |
| TUBAL3 | - | - | - | - | 3 | Gain | - |
| TUBB6 | - | - | - | - | 3 | Gain | - |
| TUBB8 | - | - | - | - | 3 | Gain | - |
| TUBGCP2 | - | - | - | - | 3 | Gain | - |
| TUBGCP6 | p.P1371H p.R793C | Missense Missense | SNP SNP | 0.474 0.597 | 2 | - | - |
| TVP23A | p.F140Lfs*7 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
| TWNK | - | - | - | - | 3 | Gain | - |
| TWSG1 | - | - | - | - | 3 | Gain | - |
| TXNDC2 | - | - | - | - | 3 | Gain | - |
| TXNL1 | - | - | - | - | 3 | Gain | - |
| TXNL4A | p.G128S | Missense | SNP | 0.316 | 3 | Gain | - |
| TYMS | - | - | - | - | 3 | Gain | - |
| TYSND1 | - | - | - | - | 3 | Gain | - |
| TYW1 | p.W154* | Nonsense | SNP | 0.570 | 2 | - | - |
| UBA2 | p.A380T | Missense | SNP | 0.554 | 2 | - | - |
| UBE2D1 | - | - | - | - | 3 | Gain | - |
| UBR4 | p.R142* | Nonsense | SNP | 0.509 | 2 | - | - |
| UBTD1 | - | - | - | - | 3 | Gain | - |
| UCMA | - | - | - | - | 3 | Gain | - |
| UCN3 | - | - | - | - | 3 | Gain | - |
| UGT1A8 | p.P264T | Missense | SNP | 0.480 | 2 | - | - |
| UNC13A | p.R1566W p.R39W | Missense Missense | SNP SNP | 0.535 0.487 | 2 | - | - |
| UNC45A | p.A18Pfs*85 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
| UNC5B | - | - | - | - | 3 | Gain | - |
| UNC5D | p.D379N | Missense | SNP | 0.533 | 2 | - | - |
| UNK | p.R123H | Missense | SNP | 0.458 | 2 | - | - |
| UPF2 | - | - | - | - | 3 | Gain | - |
| UPF3A | p.E267Rfs*13 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
| UROS | - | - | - | - | 3 | Gain | - |
| USH2A | p.R310Q | Missense | SNP | 0.500 | 2 | - | - |
| USP14 | - | - | - | - | 3 | Gain | - |
| USP2 | p.X413_splice | Splice_Site | INS | 0.296 | 2 | - | - |
| USP40 | p.Q1160Tfs*20 | Frame_Shift_Ins | INS | 0.253 | 2 | - | - |
| USP54 | - | - | - | - | 3 | Gain | - |
| USP6NL | - | - | - | - | 3 | Gain | - |
| USP9X | p.E2102K | Missense | SNP | 0.429 | ND | ND | - |
| UTF1 | - | - | - | - | 3 | Gain | - |
| UTP15 | p.L425* | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
| UTRN | p.T287A | Missense | SNP | 0.500 | 2 | - | - |
| VAPA | - | - | - | - | 3 | Gain | - |
| VAX1 | - | - | - | - | 3 | Gain | - |
| VCAN | p.W1619* | Nonsense | SNP | 0.462 | 2 | - | - |
| VCL | p.R230C | Missense | SNP | 0.309 | 3 | Gain | - |
| VCP | p.N616Cfs*11 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
| VDAC2 | - | - | - | - | 3 | Gain | - |
| VENTX | - | - | - | - | 3 | Gain | - |
| VEZF1 | p.V470I | Missense | SNP | 0.508 | 2 | - | - |
| VIM | - | - | - | - | 3 | Gain | - |
| VPS13A | p.I1709Nfs*6 p.R161H | Frame_Shift_Ins Missense | INS SNP | 0.289 0.551 | 2 | - | - |
| VPS16 | p.R321H | Missense | SNP | 0.494 | 2 | - | - |
| VPS18 | p.A889V | Missense | SNP | 0.526 | 2 | - | - |
| VPS26A | - | - | - | - | 3 | Gain | - |
| VPS35 | p.S179Y | Missense | SNP | 0.508 | 2 | - | - |
| VPS4B | - | - | - | - | 3 | Gain | - |
| VPS51 | p.V609M | Missense | SNP | 0.404 | 2 | - | - |
| VPS8 | p.Q877H | Missense | SNP | 0.504 | 2 | - | - |
| VSIG10L | p.V263Ffs*72 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
| VSIR | - | - | - | - | 3 | Gain | - |
| VSTM4 | - | - | - | - | 3 | Gain | - |
| VSX2 | p.A52V | Missense | SNP | 0.566 | 2 | - | - |
| VTI1A | - | - | - | - | 3 | Gain | - |
| VWA2 | - | - | - | - | 3 | Gain | - |
| WAC | - | - | - | - | 3 | Gain | - |
| WAPL | - | - | - | - | 3 | Gain | - |
| WASHC2A | - | - | - | - | 3 | Gain | - |
| WASHC2C | - | - | - | - | 3 | Gain | - |
| WBP11 | p.G521Wfs*28 | Frame_Shift_Ins | INS | 0.303 | 2 | - | - |
| WBP1L | - | - | - | - | 3 | Gain | - |
| WDFY3 | p.L1060Cfs*41 | Frame_Shift_Del | DEL | 0.869 | 2 | - | - |
| WDFY4 | - | - | - | - | 3 | Gain | - |
| WDR11 | - | - | - | - | 3 | Gain | - |
| WDR37 | - | - | - | - | 3 | Gain | - |
| WDR47 | p.V693I | Missense | SNP | 0.518 | 2 | - | - |
| WDR7 | - | - | - | - | 3 | Gain | - |
| WDR78 | p.K30Rfs*28 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
| WDR87 | p.K2759Rfs*57 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
| WDTC1 | p.E290Tfs*6 p.V621M | Frame_Shift_Del Missense | DEL SNP | 0.407 0.536 | 2 | - | - |
| WFDC3 | p.R66* | Nonsense | SNP | 0.486 | 2 | - | - |
| WISP3 | p.K226Nfs*24 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
| WIZ | p.R234W | Missense | SNP | 0.534 | 2 | - | - |
| WNK1 | p.P743T | Missense | SNP | 0.480 | 2 | - | - |
| WNK3 | p.A403S | Missense | SNP | 0.521 | ND | ND | - |
| WNT4 | p.K107Q | Missense | SNP | 0.496 | 2 | - | - |
| WNT6 | p.D289N | Missense | SNP | 0.566 | 2 | - | - |
| WNT8B | - | - | - | - | 3 | Gain | - |
| WSCD1 | p.R76Q | Missense | SNP | 0.434 | 2 | - | - |
| WWC2 | p.M206Cfs*17 p.R380Q | Frame_Shift_Del Missense | DEL SNP | 0.377 0.473 | 2 | - | - |
| XIAP | p.H302Y | Missense | SNP | 0.554 | ND | ND | - |
| XIRP2 | p.D1030N p.N1589T | Missense Missense | SNP SNP | 0.478 0.465 | 2 | - | - |
| XPNPEP1 | - | - | - | - | 3 | Gain | - |
| YES1 | - | - | - | - | 3 | Gain | - |
| YLPM1 | p.G1063D | Missense | SNP | 0.525 | 2 | - | - |
| YME1L1 | - | - | - | - | 3 | Gain | - |
| ZADH2 | - | - | - | - | 3 | Gain | - |
| ZBTB1 | p.K524Sfs*25 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
| ZBTB14 | p.R30H | Missense | SNP | 0.281 | 3 | Gain | - |
| ZBTB38 | p.R917C | Missense | SNP | 0.451 | 2 | - | - |
| ZBTB7A | p.A559V | Missense | SNP | 0.553 | 2 | - | - |
| ZBTB7C | - | - | - | - | 3 | Gain | - |
| ZCCHC2 | - | - | - | - | 3 | Gain | - |
| ZCCHC24 | - | - | - | - | 3 | Gain | - |
| ZCRB1 | p.K140Rfs*13 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| ZDHHC16 | - | - | - | - | 3 | Gain | - |
| ZDHHC18 | p.P367L | Missense | SNP | 0.490 | 2 | - | - |
| ZDHHC5 | p.L657S | Missense | SNP | 0.488 | 2 | - | - |
| ZDHHC6 | - | - | - | - | 3 | Gain | - |
| ZEB1 | - | - | - | - | 3 | Gain | - |
| ZFAND4 | - | - | - | - | 3 | Gain | - |
| ZFHX3 | p.G17S | Missense | SNP | 0.525 | 2 | - | - |
| ZFHX4 | p.L411Cfs*4 p.P2057Hfs*26 p.A171T | Frame_Shift_Del Frame_Shift_Del Missense | DEL DEL SNP | 0.497 0.182 0.572 | 2 | - | - |
| ZFP36L2 | p.A229Rfs*245 p.G144Afs*43 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.307 0.425 | 2 | - | - |
| ZFX | p.R536H | Missense | SNP | 0.429 | ND | ND | - |
| ZFYVE27 | - | - | - | - | 3 | Gain | - |
| ZKSCAN2 | p.A166V | Missense | SNP | 0.436 | 2 | - | - |
| ZMIZ1 | - | - | - | - | 3 | Gain | - |
| ZMYM3 | p.L85Afs*4 | Frame_Shift_Ins | INS | 0.337 | ND | ND | - |
| ZMYM6 | p.N724Mfs*15 | Frame_Shift_Del | DEL | 0.369 | 2 | - | - |
| ZMYND11 | - | - | - | - | 3 | Gain | - |
| ZMYND8 | p.K655Sfs*14 | Frame_Shift_Del | DEL | 0.365 | 2 | - | - |
| ZNF134 | p.E208K | Missense | SNP | 0.534 | 2 | - | - |
| ZNF157 | p.K53N | Missense | SNP | 0.581 | ND | ND | - |
| ZNF205 | p.A493V | Missense | SNP | 0.528 | 2 | - | - |
| ZNF215 | p.R396* | Nonsense | SNP | 0.538 | 2 | - | - |
| ZNF22 | - | - | - | - | 3 | Gain | - |
| ZNF236 | - | - | - | - | 3 | Gain | - |
| ZNF239 | - | - | - | - | 3 | Gain | - |
| ZNF24 | - | - | - | - | 3 | Gain | - |
| ZNF248 | - | - | - | - | 3 | Gain | - |
| ZNF25 | - | - | - | - | 3 | Gain | - |
| ZNF3 | p.T99Rfs*4 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
| ZNF32 | - | - | - | - | 3 | Gain | - |
| ZNF33A | - | - | - | - | 3 | Gain | - |
| ZNF33B | - | - | - | - | 3 | Gain | - |
| ZNF365 | - | - | - | - | 3 | Gain | - |
| ZNF37A | - | - | - | - | 3 | Gain | - |
| ZNF384 | p.P517S | Missense | SNP | 0.505 | 2 | - | - |
| ZNF396 | - | - | - | - | 3 | Gain | - |
| ZNF397 | - | - | - | - | 3 | Gain | - |
| ZNF407 | - | - | - | - | 3 | Gain | - |
| ZNF438 | - | - | - | - | 3 | Gain | - |
| ZNF441 | p.P418S | Missense | SNP | 0.407 | 2 | - | - |
| ZNF460 | p.P447L | Missense | SNP | 0.447 | 2 | - | - |
| ZNF479 | p.K127Nfs*74 | Frame_Shift_Del | DEL | 0.317 | 2 | - | - |
| ZNF485 | - | - | - | - | 3 | Gain | - |
| ZNF487 | - | - | - | - | 3 | Gain | - |
| ZNF488 | - | - | - | - | 3 | Gain | - |
| ZNF503 | - | - | - | - | 3 | Gain | - |
| ZNF511 | - | - | - | - | 3 | Gain | - |
| ZNF511-PRAP1 | - | - | - | - | 3 | Gain | - |
| ZNF516 | - | - | - | - | 3 | Gain | - |
| ZNF518A | - | - | - | - | 3 | Gain | - |
| ZNF519 | - | - | - | - | 3 | Gain | - |
| ZNF521 | - | - | - | - | 3 | Gain | - |
| ZNF525 | p.A177T | Missense | SNP | 0.478 | 2 | - | - |
| ZNF532 | p.R421Gfs*9 | Frame_Shift_Del | DEL | 0.611 | 3 | Gain | - |
| ZNF552 | p.S172N | Missense | SNP | 0.449 | 2 | - | - |
| ZNF567 | p.H253Tfs*5 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
| ZNF615 | p.G361R | Missense | SNP | 0.525 | 2 | - | - |
| ZNF616 | p.T209Rfs*8 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
| ZNF687 | p.E930del | In_Frame_Del | DEL | 0.348 | 2 | - | - |
| ZNF703 | p.A472T | Missense | SNP | 0.454 | 2 | - | - |
| ZNF71 | p.R107H | Missense | SNP | 0.438 | 2 | - | - |
| ZNF710 | p.R386C | Missense | SNP | 0.533 | 2 | - | - |
| ZNF717 | p.K511N | Missense | SNP | 0.252 | 2 | - | - |
| ZNF74 | p.A447T | Missense | SNP | 0.466 | 2 | - | - |
| ZNF777 | p.P504Rfs*5 p.R566C | Frame_Shift_Del Missense | DEL SNP | 0.407 0.575 | 2 | - | - |
| ZNF786 | p.R377C | Missense | SNP | 0.513 | 2 | - | - |
| ZNF792 | p.T222I | Missense | SNP | 0.435 | 2 | - | - |
| ZNF813 | p.S108N | Missense | SNP | 0.453 | 2 | - | - |
| ZNF814 | p.K350Nfs*121 | Frame_Shift_Del | DEL | 0.205 | 2 | - | - |
| ZNF831 | p.G1157E | Missense | SNP | 0.535 | 2 | - | - |
| ZNF865 | p.A462T p.S672L | Missense Missense | SNP SNP | 0.531 0.484 | 2 | - | - |
| ZNF880 | p.A332T | Missense | SNP | 0.432 | 2 | - | - |
| ZRANB1 | - | - | - | - | 3 | Gain | - |
| ZSCAN30 | - | - | - | - | 3 | Gain | - |
| ZSWIM4 | p.R679Q | Missense | SNP | 0.488 | 2 | - | - |
| ZSWIM8 | - | - | - | - | 3 | Gain | - |
| ZW10 | p.R762C | Missense | SNP | 0.439 | 2 | - | - |
| ZWINT | - | - | - | - | 3 | Gain | - |