| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | Called |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| A1CF | - | - | - | - | 4 | Gain | - |
| AARD | - | - | - | - | 3 | Gain | - |
| ABCB4 | p.S339Qfs*3 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
| ABCB6 | p.G318Vfs*9 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
| ABCC10 | p.Q369* | Nonsense | SNP | 0.550 | 2 | - | - |
| ABCC2 | - | - | - | - | 4 | Gain | - |
| ABCG8 | p.T401M | Missense | SNP | 0.468 | 2 | - | - |
| ABHD3 | - | - | - | - | 3 | Gain | - |
| ABI1 | - | - | - | - | 4 | Gain | - |
| ABLIM1 | - | - | - | - | 4 | Gain | - |
| ABRA | - | - | - | - | 3 | Gain | - |
| ABRAXAS2 | - | - | - | - | 4 | Gain | - |
| AC007998.2 | - | - | - | - | 3 | Gain | - |
| AC009879.2 | - | - | - | - | 3 | Gain | - |
| AC009879.3 | - | - | - | - | 3 | Gain | - |
| AC012213.5 | - | - | - | - | 3 | Gain | - |
| AC012254.2 | - | - | - | - | 3 | Gain | - |
| AC022400.6 | - | - | - | - | 4 | Gain | - |
| AC022826.2 | - | - | - | - | 3 | Gain | - |
| AC036214.3 | - | - | - | - | 3 | Gain | - |
| AC037459.1 | - | - | - | - | 3 | Gain | - |
| AC067752.1 | - | - | - | - | 4 | Gain | - |
| AC068896.1 | - | - | - | - | 4 | Gain | - |
| AC090227.1 | - | - | - | - | 3 | Gain | - |
| AC090360.1 | - | - | - | - | 3 | Gain | - |
| AC091551.1 | - | - | - | - | 3 | Gain | - |
| AC093512.2 | - | - | - | - | 2 | - | LRRC23--AC093512.2 |
| AC093668.2 | - | - | - | - | 1 | Loss | - |
| AC093668.3 | - | - | - | - | 1 | Loss | - |
| AC100868.1 | - | - | - | - | 3 | Gain | - |
| AC105052.1 | - | - | - | - | 1 | Loss | - |
| AC105052.3 | - | - | - | - | 1 | Loss | - |
| AC107959.5 | - | - | - | - | 3 | Gain | - |
| AC110275.1 | - | - | - | - | 3 | Gain | - |
| AC124312.3 | - | - | - | - | ND | ND | PSEN1--AC124312.3 |
| AC138647.1 | - | - | - | - | 3 | Gain | - |
| AC138696.1 | - | - | - | - | 3 | Gain | - |
| AC144573.1 | - | - | - | - | 3 | Gain | - |
| ACAA2 | - | - | - | - | 3 | Gain | - |
| ACAD11 | p.R127Q | Missense | SNP | 0.430 | 2 | - | - |
| ACADSB | - | - | - | - | 4 | Gain | - |
| ACBD5 | - | - | - | - | 4 | Gain | - |
| ACBD7 | - | - | - | - | 4 | Gain | - |
| ACSL5 | - | - | - | - | 4 | Gain | - |
| ACSM6 | - | - | - | - | 4 | Gain | - |
| ACTA2 | - | - | - | - | 4 | Gain | - |
| ACTB | p.P332S | Missense | SNP | 0.426 | 2 | - | - |
| ACTR1A | - | - | - | - | 4 | Gain | - |
| ACTR2 | p.R354C | Missense | SNP | 0.358 | 2 | - | - |
| ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.379 | 2 | - | - |
| ADAM12 | - | - | - | - | 4 | Gain | - |
| ADAM18 | - | - | - | - | 3 | Gain | - |
| ADAM2 | - | - | - | - | 3 | Gain | - |
| ADAM20 | p.R103Qfs*12 | Frame_Shift_Ins | INS | 0.247 | 2 | - | - |
| ADAM21 | p.V339M | Missense | SNP | 0.437 | 2 | - | - |
| ADAM28 | - | - | - | - | 3 | Gain | - |
| ADAM32 | - | - | - | - | 3 | Gain | - |
| ADAM7 | - | - | - | - | 3 | Gain | - |
| ADAM8 | - | - | - | - | 3 | Gain | - |
| ADAM9 | - | - | - | - | 3 | Gain | - |
| ADAMDEC1 | - | - | - | - | 3 | Gain | - |
| ADAMTS14 | - | - | - | - | 4 | Gain | - |
| ADARB2 | - | - | - | - | 4 | Gain | - |
| ADCK5 | - | - | - | - | 3 | Gain | - |
| ADCY5 | p.D192_S193del | In_Frame_Del | DEL | 0.291 | 2 | - | - |
| ADCY8 | - | - | - | - | 3 | Gain | - |
| ADCYAP1 | p.X37_splice | Splice_Site | SNP | 0.353 | 3 | Gain | - |
| ADD2 | p.R134Q | Missense | SNP | 0.326 | 2 | - | - |
| ADD3 | p.R434C | Missense | SNP | 0.707 | 4 | Gain | - |
| ADGRA1 | - | - | - | - | 3 | Gain | - |
| ADGRA2 | - | - | - | - | 3 | Gain | - |
| ADGRB1 | - | - | - | - | 3 | Gain | - |
| ADGRF5 | p.Y1113H | Missense | SNP | 0.450 | 2 | - | - |
| ADGRL3 | p.V963Cfs*39 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
| ADHFE1 | - | - | - | - | 3 | Gain | - |
| ADIRF | - | - | - | - | 4 | Gain | - |
| ADK | - | - | - | - | 4 | Gain | - |
| ADNP2 | - | - | - | - | 3 | Gain | - |
| ADO | - | - | - | - | 4 | Gain | - |
| ADRA1A | - | - | - | - | 3 | Gain | - |
| ADRA2A | - | - | - | - | 4 | Gain | - |
| ADRB1 | - | - | - | - | 4 | Gain | - |
| ADRB3 | - | - | - | - | 3 | Gain | - |
| AEBP1 | p.Q255Afs*21 | Frame_Shift_Ins | INS | 0.349 | 2 | - | - |
| AFAP1L2 | - | - | - | - | 4 | Gain | - |
| AFG3L2 | - | - | - | - | 3 | Gain | - |
| AFMID | p.G71S | Missense | SNP | 0.528 | 2 | - | - |
| AGAP2 | p.V630M | Missense | SNP | 0.400 | 2 | - | - |
| AGAP4 | - | - | - | - | 3 | Gain | - |
| AGAP5 | - | - | - | - | 4 | Gain | - |
| AGAP6 | - | - | - | - | 4 | Gain | - |
| AGAP9 | - | - | - | - | 3 | Gain | - |
| AGL | p.N1304Kfs*7 | Frame_Shift_Ins | INS | 0.345 | 2 | - | - |
| AGO1 | p.L17Cfs*99 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| AGO2 | - | - | - | - | 3 | Gain | - |
| AGPAT5 | - | - | - | - | 3 | Gain | - |
| AIF1 | p.P137H | Missense | SNP | 0.433 | 2 | - | - |
| AIFM2 | - | - | - | - | 4 | Gain | - |
| AIFM3 | p.V462M | Missense | SNP | 0.462 | 2 | - | - |
| AIM1 | p.P734L | Missense | SNP | 0.445 | ND | ND | - |
| AKAIN1 | - | - | - | - | 3 | Gain | - |
| AKAP9 | p.K39Rfs*17 p.V3673A | Frame_Shift_Del Missense | DEL SNP | 0.447 0.389 | 2 | - | - |
| AKR1B1 | p.A209T | Missense | SNP | 0.487 | 2 | - | - |
| AKR1C1 | - | - | - | - | 4 | Gain | - |
| AKR1C2 | - | - | - | - | 4 | Gain | - |
| AKR1C3 | - | - | - | - | 4 | Gain | - |
| AKR1C4 | - | - | - | - | 4 | Gain | - |
| AKR1C8P | - | - | - | - | 4 | Gain | - |
| AKR1E2 | - | - | - | - | 4 | Gain | - |
| AL117339.5 | - | - | - | - | 4 | Gain | - |
| AL133352.1 | - | - | - | - | 4 | Gain | - |
| AL133353.2 | - | - | - | - | 4 | Gain | - |
| AL139099.4 | - | - | - | - | ND | ND | AL139099.4--TUBB4B |
| AL157392.5 | - | - | - | - | 4 | Gain | - |
| AL355315.1 | - | - | - | - | 4 | Gain | - |
| AL356053.1 | p.I188* | Frame_Shift_Del | DEL | 0.118 | ND | ND | - |
| AL360181.3 | - | - | - | - | 3 | Gain | - |
| AL365273.2 | - | - | - | - | 4 | Gain | - |
| AL583836.1 | - | - | - | - | 4 | Gain | - |
| ALDH18A1 | - | - | - | - | 4 | Gain | - |
| ALDH1A2 | p.R85C | Missense | SNP | 0.474 | 2 | - | - |
| ALDH3B2 | p.L213M | Missense | SNP | 0.582 | 2 | - | - |
| ALDOC | p.R22Q | Missense | SNP | 0.542 | 2 | - | - |
| ALKAL1 | - | - | - | - | 3 | Gain | - |
| ALKBH4 | p.C267Y | Missense | SNP | 0.509 | 2 | - | - |
| ALOX5 | - | - | - | - | 3 | Gain | - |
| ALPK2 | - | - | - | - | 3 | Gain | - |
| ALS2CR11 | p.N837Ifs*9 | Frame_Shift_Del | DEL | 0.411 | ND | ND | - |
| AMT | p.L155I | Missense | SNP | 0.513 | 2 | - | - |
| ANAPC16 | - | - | - | - | 4 | Gain | - |
| ANGPT1 | - | - | - | - | 3 | Gain | - |
| ANGPT2 | p.I234* | Frame_Shift_Del | DEL | 0.590 | 3 | Gain | - |
| ANK1 | - | - | - | - | 3 | Gain | - |
| ANK2 | p.A1819V | Missense | SNP | 0.485 | 2 | - | - |
| ANK3 | - | - | - | - | 4 | Gain | - |
| ANKFN1 | p.R763K | Missense | SNP | 0.391 | 2 | - | - |
| ANKRD1 | - | - | - | - | 4 | Gain | - |
| ANKRD11 | p.A2265Pfs*72 | Frame_Shift_Del | DEL | 0.523 | 2 | - | - |
| ANKRD12 | - | - | - | - | 3 | Gain | - |
| ANKRD16 | - | - | - | - | 4 | Gain | - |
| ANKRD2 | - | - | - | - | 4 | Gain | - |
| ANKRD22 | - | - | - | - | 4 | Gain | - |
| ANKRD26 | - | - | - | - | 4 | Gain | - |
| ANKRD27 | p.H464Y | Missense | SNP | 0.388 | 2 | - | - |
| ANKRD29 | - | - | - | - | 3 | Gain | - |
| ANKRD30A | - | - | - | - | 4 | Gain | - |
| ANKRD30B | - | - | - | - | 3 | Gain | - |
| ANKRD31 | p.G512Vfs*20 | Frame_Shift_Del | DEL | 0.618 | 2 | - | - |
| ANKRD46 | - | - | - | - | 3 | Gain | - |
| ANKRD62 | - | - | - | - | 3 | Gain | - |
| ANKS3 | p.R550H | Missense | SNP | 0.472 | 2 | - | - |
| ANO4 | p.A294V | Missense | SNP | 0.366 | 2 | - | - |
| ANO6 | p.V698I | Missense | SNP | 0.330 | 2 | - | - |
| ANTXRL | - | - | - | - | 3 | Gain | - |
| ANXA11 | - | - | - | - | 4 | Gain | - |
| ANXA13 | - | - | - | - | 3 | Gain | - |
| ANXA7 | - | - | - | - | 4 | Gain | - |
| ANXA8 | - | - | - | - | 3 | Gain | - |
| ANXA8L1 | - | - | - | - | 3 | Gain | - |
| AOC1 | p.R190Gfs*18 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
| AP1G1 | p.R8W | Missense | SNP | 0.383 | 2 | - | - |
| AP2A2 | p.P670Lfs*67 p.A376T | Frame_Shift_Del Missense | DEL SNP | 0.762 0.512 | 2 | - | - |
| AP3M1 | - | - | - | - | 4 | Gain | - |
| AP3M2 | - | - | - | - | 3 | Gain | - |
| APBB1IP | - | - | - | - | 4 | Gain | - |
| APC | p.E902K p.P1604L | Missense Missense | SNP SNP | 0.463 0.435 | 2 | - | - |
| APCDD1 | - | - | - | - | 3 | Gain | - |
| APOBR | p.G267C | Missense | SNP | 0.438 | 2 | - | - |
| APOL2 | p.R87Q | Missense | SNP | 0.407 | 2 | - | - |
| AQP2 | p.T125M | Missense | SNP | 0.533 | 2 | - | - |
| AQP4 | - | - | - | - | 3 | Gain | - |
| ARAP2 | p.A469T p.G250* | Missense Nonsense | SNP SNP | 0.476 0.479 | 2 | - | - |
| ARC | - | - | - | - | 3 | Gain | - |
| ARFGEF1 | - | - | - | - | 3 | Gain | - |
| ARGLU1 | p.R45H p.A186T | Missense Missense | SNP SNP | 0.435 0.405 | 2 | - | - |
| ARHGAP12 | - | - | - | - | 4 | Gain | - |
| ARHGAP19 | - | - | - | - | 4 | Gain | - |
| ARHGAP19-SLIT1 | - | - | - | - | 4 | Gain | - |
| ARHGAP21 | - | - | - | - | 4 | Gain | - |
| ARHGAP22 | - | - | - | - | 3 | Gain | - |
| ARHGAP28 | - | - | - | - | 3 | Gain | - |
| ARHGAP39 | p.V443I | Missense | SNP | 0.330 | 3 | Gain | - |
| ARHGAP6 | p.G745R p.R433Q | Missense Missense | SNP SNP | 0.408 0.447 | ND | ND | - |
| ARHGEF1 | p.D382N | Missense | SNP | 0.486 | 2 | - | - |
| ARHGEF10 | - | - | - | - | 3 | Gain | - |
| ARHGEF10L | p.T495M | Missense | SNP | 0.373 | 2 | - | - |
| ARHGEF40 | p.R1076Gfs*18 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| ARID1A | p.P1175Hfs*5 p.D1850Gfs*4 p.X751_splice | Frame_Shift_Del Frame_Shift_Ins Splice_Site | DEL INS SNP | 0.580 0.258 0.485 | 2 | - | - |
| ARID1B | p.Q1810* | Nonsense | SNP | 0.412 | 2 | - | - |
| ARID3A | p.X499_splice | Splice_Site | SNP | 0.559 | 2 | - | - |
| ARID4B | p.Q1041* | Nonsense | SNP | 0.471 | 2 | - | - |
| ARID5B | - | - | - | - | 4 | Gain | - |
| ARL2 | p.R78Q | Missense | SNP | 0.494 | 2 | - | - |
| ARL3 | - | - | - | - | 4 | Gain | - |
| ARL5B | - | - | - | - | 4 | Gain | - |
| ARMC1 | - | - | - | - | 3 | Gain | - |
| ARMC3 | - | - | - | - | 4 | Gain | - |
| ARMC4 | - | - | - | - | 4 | Gain | - |
| ARMC9 | p.G2R | Missense | SNP | 0.424 | 2 | - | - |
| ARMH3 | - | - | - | - | 4 | Gain | - |
| ARMS2 | - | - | - | - | 4 | Gain | - |
| AS3MT | - | - | - | - | 4 | Gain | - |
| ASAH1 | - | - | - | - | 3 | Gain | - |
| ASAH2 | - | - | - | - | 4 | Gain | - |
| ASAH2B | - | - | - | - | 4 | Gain | - |
| ASAP1 | - | - | - | - | 3 | Gain | - |
| ASB13 | - | - | - | - | 4 | Gain | - |
| ASCC1 | - | - | - | - | 4 | Gain | - |
| ASH1L | p.I1341N | Missense | SNP | 0.497 | 2 | - | - |
| ASH2L | - | - | - | - | 3 | Gain | - |
| ASPH | - | - | - | - | 3 | Gain | - |
| ASXL3 | - | - | - | - | 3 | Gain | - |
| ATAD1 | - | - | - | - | 4 | Gain | - |
| ATAD2 | - | - | - | - | 3 | Gain | - |
| ATE1 | - | - | - | - | 4 | Gain | - |
| ATOH7 | - | - | - | - | 4 | Gain | - |
| ATP10A | p.T1205Pfs*4 | Frame_Shift_Del | DEL | 0.571 | 2 | - | - |
| ATP5F1A | - | - | - | - | 3 | Gain | - |
| ATP5F1C | - | - | - | - | 4 | Gain | - |
| ATP5MD | - | - | - | - | 4 | Gain | - |
| ATP6V0D2 | - | - | - | - | 3 | Gain | - |
| ATP6V1B2 | - | - | - | - | 3 | Gain | - |
| ATP6V1C1 | - | - | - | - | 3 | Gain | - |
| ATP6V1D | p.R30Q | Missense | SNP | 0.487 | 2 | - | - |
| ATP6V1H | - | - | - | - | 3 | Gain | - |
| ATP8A1 | p.R725H | Missense | SNP | 0.478 | 2 | - | - |
| ATP8A2 | p.V506M | Missense | SNP | 0.454 | 2 | - | - |
| ATP8B1 | - | - | - | - | 3 | Gain | - |
| ATP9B | - | - | - | - | 3 | Gain | - |
| ATRNL1 | - | - | - | - | 4 | Gain | - |
| AVIL | p.G118Vfs*6 p.T480M | Frame_Shift_Del Missense | DEL SNP | 0.403 0.592 | 2 | - | - |
| AVL9 | p.G397A | Missense | SNP | 0.401 | 2 | - | - |
| AVPI1 | - | - | - | - | 4 | Gain | - |
| AZIN1 | - | - | - | - | 3 | Gain | - |
| B3GNT6 | p.G221D | Missense | SNP | 0.474 | 2 | - | - |
| B4GALNT4 | p.T982M | Missense | SNP | 0.451 | 2 | - | - |
| B4GALT6 | - | - | - | - | 3 | Gain | - |
| BAALC | - | - | - | - | 3 | Gain | - |
| BAG3 | - | - | - | - | 4 | Gain | - |
| BAG4 | - | - | - | - | 3 | Gain | - |
| BAHCC1 | p.G1603R | Missense | SNP | 0.528 | 2 | - | - |
| BAIAP2L2 | p.V396M | Missense | SNP | 0.557 | 2 | - | - |
| BAIAP3 | p.R785W | Missense | SNP | 0.443 | 2 | - | - |
| BAMBI | - | - | - | - | 4 | Gain | - |
| BANP | p.A232T | Missense | SNP | 0.351 | 2 | - | - |
| BBIP1 | - | - | - | - | 4 | Gain | - |
| BCAS3 | p.G891Efs*76 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
| BCCIP | - | - | - | - | 4 | Gain | - |
| BCHE | p.N134Mfs*5 | Frame_Shift_Del | DEL | 0.942 | 2 | - | - |
| BCKDHA | p.T211M | Missense | SNP | 0.493 | 2 | - | - |
| BCL2 | - | - | - | - | 3 | Gain | - |
| BCL9L | p.P1127Hfs*21 p.A77Gfs*14 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.283 0.292 | 2 | - | - |
| BCR | p.R232W | Missense | SNP | 0.484 | 2 | - | - |
| BEND3 | p.P494Rfs*46 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
| BEND7 | - | - | - | - | 4 | Gain | - |
| BHLHE22 | - | - | - | - | 3 | Gain | - |
| BICC1 | - | - | - | - | 4 | Gain | - |
| BIN3 | - | - | - | - | 3 | Gain | - |
| BIRC7 | p.Q54* | Nonsense | SNP | 0.383 | 2 | - | - |
| BLK | - | - | - | - | 3 | Gain | - |
| BLNK | - | - | - | - | 4 | Gain | - |
| BLOC1S2 | - | - | - | - | 4 | Gain | - |
| BMI1 | - | - | - | - | 4 | Gain | - |
| BMP1 | - | - | - | - | 3 | Gain | - |
| BMPR1A | - | - | - | - | 4 | Gain | - |
| BMS1 | - | - | - | - | 3 | Gain | - |
| BNIP3 | - | - | - | - | 3 | Gain | - |
| BNIP3L | - | - | - | - | 3 | Gain | - |
| BOD1L1 | p.E2153K | Missense | SNP | 0.440 | 2 | - | - |
| BOD1L2 | - | - | - | - | 3 | Gain | - |
| BOP1 | - | - | - | - | 3 | Gain | - |
| BORCS7 | - | - | - | - | 4 | Gain | - |
| BORCS7-ASMT | - | - | - | - | 4 | Gain | - |
| BPIFB4 | p.V74Sfs*9 p.R289W | Frame_Shift_Ins Missense | INS SNP | 0.293 0.443 | 2 | - | - |
| BRD4 | p.R444C | Missense | SNP | 0.393 | 2 | - | - |
| BRF2 | - | - | - | - | 3 | Gain | - |
| BRPF1 | p.Q938Sfs*5 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| BRSK1 | p.R379Gfs*9 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
| BTAF1 | - | - | - | - | 4 | Gain | - |
| BTBD16 | - | - | - | - | 4 | Gain | - |
| BTRC | - | - | - | - | 4 | Gain | - |
| BUB3 | - | - | - | - | 4 | Gain | - |
| C10orf105 | - | - | - | - | 4 | Gain | - |
| C10orf113 | - | - | - | - | 4 | Gain | - |
| C10orf120 | - | - | - | - | 4 | Gain | - |
| C10orf53 | - | - | - | - | 4 | Gain | - |
| C10orf55 | - | - | - | - | 4 | Gain | - |
| C10orf62 | - | - | - | - | 4 | Gain | - |
| C10orf67 | - | - | - | - | 4 | Gain | - |
| C10orf71 | - | - | - | - | 3 | Gain | - |
| C10orf82 | - | - | - | - | 4 | Gain | - |
| C10orf88 | - | - | - | - | 4 | Gain | - |
| C10orf90 | - | - | - | - | 4 | Gain | - |
| C10orf99 | - | - | - | - | 4 | Gain | - |
| C17orf74 | p.P442Rfs*25 | Frame_Shift_Del | DEL | 0.385 | 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 | 0.521 | ND | ND | - |
| C1D | p.N120Mfs*61 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
| C1QB | p.C31Y | Missense | SNP | 0.534 | 2 | - | - |
| C1QL3 | p.R180H | Missense | SNP | 0.240 | 4 | Gain | - |
| C21orf58 | p.T203M | Missense | SNP | 0.449 | 2 | - | - |
| C2CD5 | p.R183H | Missense | SNP | 0.447 | 2 | - | - |
| C6orf89 | p.Q61Afs*10 | Frame_Shift_Ins | INS | 0.188 | 2 | - | - |
| C8orf33 | - | - | - | - | 3 | Gain | - |
| C8orf34 | - | - | - | - | 3 | Gain | - |
| C8orf37 | - | - | - | - | 3 | Gain | - |
| C8orf44 | - | - | - | - | 3 | Gain | - |
| C8orf48 | - | - | - | - | 3 | Gain | - |
| C8orf58 | - | - | - | - | 3 | Gain | - |
| C8orf59 | - | - | - | - | 3 | Gain | - |
| C8orf74 | - | - | - | - | 3 | Gain | - |
| C8orf76 | - | - | - | - | 3 | Gain | - |
| C8orf82 | - | - | - | - | 3 | Gain | - |
| C8orf86 | - | - | - | - | 3 | Gain | - |
| C8orf88 | - | - | - | - | 3 | Gain | - |
| C8orf89 | - | - | - | - | 3 | Gain | - |
| C9orf66 | p.H283Pfs*22 | Frame_Shift_Ins | INS | 0.281 | 2 | - | - |
| CA1 | - | - | - | - | 3 | Gain | - |
| CA13 | - | - | - | - | 3 | Gain | - |
| CA2 | - | - | - | - | 3 | Gain | - |
| CA3 | - | - | - | - | 3 | Gain | - |
| CA8 | - | - | - | - | 3 | Gain | - |
| CABCOCO1 | - | - | - | - | 4 | Gain | - |
| CABIN1 | p.G1834Afs*72 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
| CABLES1 | - | - | - | - | 3 | Gain | - |
| CABYR | - | - | - | - | 3 | Gain | - |
| CACNA1E | p.R1594H | Missense | SNP | 0.449 | 2 | - | - |
| CACNA1I | p.P665L | Missense | SNP | 0.358 | 2 | - | - |
| CACNB2 | p.T254M p.R608H | Missense Missense | SNP SNP | 0.249 0.758 | 4 | Gain | - |
| CACUL1 | - | - | - | - | 4 | Gain | - |
| CAD | p.R2064C | Missense | SNP | 0.383 | 2 | - | - |
| CALB1 | - | - | - | - | 3 | Gain | - |
| CALCRL | p.F16Lfs*2 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
| CALHM1 | - | - | - | - | 4 | Gain | - |
| CALHM2 | - | - | - | - | 4 | Gain | - |
| CALHM3 | - | - | - | - | 4 | Gain | - |
| CALML3 | - | - | - | - | 4 | Gain | - |
| CALML5 | - | - | - | - | 4 | Gain | - |
| CALY | - | - | - | - | 3 | Gain | - |
| CAMK1D | - | - | - | - | 4 | Gain | - |
| CAMK2G | - | - | - | - | 4 | Gain | - |
| CAMKK1 | p.R510* | Nonsense | SNP | 0.605 | 2 | - | - |
| CAMSAP2 | p.R1179W | Missense | SNP | 0.481 | 2 | - | - |
| CAMTA2 | p.P889Lfs*9 p.P547L | Frame_Shift_Del Missense | DEL SNP | 0.464 0.502 | 2 | - | - |
| CANX | p.R274H | Missense | SNP | 0.510 | 2 | - | - |
| CARD14 | p.E929K | Missense | SNP | 0.518 | 2 | - | - |
| CARS | p.R453L | Missense | SNP | 0.485 | 2 | - | - |
| CASC1 | p.I554M | Missense | SNP | 0.511 | 2 | - | - |
| CASC10 | - | - | - | - | 4 | Gain | - |
| CASP7 | - | - | - | - | 4 | Gain | - |
| CASR | p.R220W | Missense | SNP | 0.483 | 2 | - | - |
| CASS4 | p.R67H | Missense | SNP | 0.420 | 2 | - | - |
| CASZ1 | p.T715M | Missense | SNP | 0.447 | 2 | - | - |
| CATIP | p.A255T | Missense | SNP | 0.520 | 2 | - | - |
| CBFA2T2 | p.E402D | Missense | SNP | 0.651 | 2 | - | - |
| CBLN2 | - | - | - | - | 3 | Gain | - |
| CC2D2B | - | - | - | - | 4 | Gain | - |
| CCAR1 | p.Q596* | Nonsense | SNP | 0.094 | 4 | Gain | - |
| CCAR2 | - | - | - | - | 3 | Gain | - |
| CCBE1 | p.V92I | Missense | SNP | 0.394 | 3 | Gain | - |
| CCDC102B | p.I270Nfs*31 | Frame_Shift_Ins | INS | 0.398 | 3 | Gain | - |
| CCDC150 | p.S317Y p.R971Q | Missense Missense | SNP SNP | 0.550 0.508 | 2 | - | - |
| CCDC166 | - | - | - | - | 3 | Gain | - |
| CCDC168 | p.Q3471Tfs*12 p.N2569Kfs*26 | Frame_Shift_Ins Frame_Shift_Ins | INS INS | 0.292 0.280 | 2 | - | - |
| CCDC172 | - | - | - | - | 4 | Gain | - |
| CCDC178 | - | - | - | - | 3 | Gain | - |
| CCDC186 | - | - | - | - | 4 | Gain | - |
| CCDC191 | p.E82D | Missense | SNP | 0.533 | 2 | - | - |
| CCDC25 | - | - | - | - | 3 | Gain | - |
| CCDC3 | - | - | - | - | 4 | Gain | - |
| CCDC6 | - | - | - | - | 4 | Gain | - |
| CCDC68 | - | - | - | - | 3 | Gain | - |
| CCDC7 | - | - | - | - | 4 | Gain | - |
| CCDC74B | - | - | - | - | 1 | Loss | - |
| CCDC83 | p.I184T | Missense | SNP | 0.628 | 2 | - | - |
| CCDC96 | p.R524H | Missense | SNP | 0.480 | 2 | - | - |
| CCER2 | p.E232del | In_Frame_Del | DEL | 0.410 | 2 | - | - |
| CCNE2 | - | - | - | - | 3 | Gain | - |
| CCNJ | - | - | - | - | 4 | Gain | - |
| CCNY | - | - | - | - | 4 | Gain | - |
| CCSER1 | p.F428Lfs*29 | Frame_Shift_Del | DEL | 0.241 | 2 | - | - |
| CCSER2 | - | - | - | - | 4 | Gain | - |
| CCT2 | p.R376C | Missense | SNP | 0.536 | 2 | - | - |
| CD163L1 | p.P890L | Missense | SNP | 0.434 | 2 | - | - |
| CD19 | p.X120_splice | Splice_Site | DEL | 0.515 | 2 | - | - |
| CD226 | - | - | - | - | 3 | Gain | - |
| CD79A | p.R131Gfs*61 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
| CDC123 | - | - | - | - | 4 | Gain | - |
| CDC42EP4 | p.V144M | Missense | SNP | 0.436 | 2 | - | - |
| CDCA2 | - | - | - | - | 3 | Gain | - |
| CDH10 | p.E641Sfs*3 | Frame_Shift_Del | DEL | 0.325 | 2 | - | - |
| CDH17 | p.S645Lfs*3 | Frame_Shift_Del | DEL | 0.350 | 3 | Gain | - |
| CDH19 | - | - | - | - | 3 | Gain | - |
| CDH2 | - | - | - | - | 3 | Gain | - |
| CDH20 | - | - | - | - | 3 | Gain | - |
| CDH23 | - | - | - | - | 4 | Gain | - |
| CDH7 | p.R264Q p.G393E | Missense Missense | SNP SNP | 0.636 0.220 | 3 | Gain | - |
| CDHR1 | - | - | - | - | 4 | Gain | - |
| CDK1 | - | - | - | - | 4 | Gain | - |
| CDK19 | p.S62L | Missense | SNP | 0.471 | 2 | - | - |
| CDKN2B | p.L93Pfs*70 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
| CDNF | - | - | - | - | 4 | Gain | - |
| CDS1 | p.F263Lfs*6 | Frame_Shift_Del | DEL | 0.513 | 2 | - | - |
| CEBPD | - | - | - | - | 3 | Gain | - |
| CELF2 | - | - | - | - | 4 | Gain | - |
| CELF3 | p.V279I | Missense | SNP | 0.405 | 2 | - | - |
| CELF4 | - | - | - | - | 3 | Gain | - |
| CELSR2 | p.A1152V | Missense | SNP | 0.422 | 2 | - | - |
| CELSR3 | p.R1336H | Missense | SNP | 0.455 | 2 | - | - |
| CEP192 | p.R763C | Missense | SNP | 0.349 | 3 | Gain | - |
| CEP250 | p.V728I | Missense | SNP | 0.534 | 2 | - | - |
| CEP55 | - | - | - | - | 4 | Gain | - |
| CEP76 | - | - | - | - | 3 | Gain | - |
| CEP85 | p.T746I | Missense | SNP | 0.543 | 2 | - | - |
| CETN1 | - | - | - | - | 3 | Gain | - |
| CFAP43 | - | - | - | - | 4 | Gain | - |
| CFAP45 | p.R403H | Missense | SNP | 0.549 | 2 | - | - |
| CFAP46 | - | - | - | - | 3 | Gain | - |
| CFAP53 | p.F148L | Missense | SNP | 0.659 | 3 | Gain | - |
| CFAP58 | - | - | - | - | 4 | Gain | - |
| CFAP70 | - | - | - | - | 4 | Gain | - |
| CFTR | p.G1047D | Missense | SNP | 0.490 | 2 | - | - |
| CH25H | - | - | - | - | 4 | Gain | - |
| CH507-42P11.8 | p.R587Q | Missense | SNP | 0.534 | ND | ND | - |
| CHAT | - | - | - | - | 4 | Gain | - |
| CHCHD1 | - | - | - | - | 4 | Gain | - |
| CHCHD7 | - | - | - | - | 3 | Gain | - |
| CHD7 | p.T1133M | Missense | SNP | 0.603 | 3 | Gain | - |
| CHIA | p.Q62* | Nonsense | SNP | 0.465 | 2 | - | - |
| CHMP1B | - | - | - | - | 3 | Gain | - |
| CHMP2A | p.C173G | Missense | SNP | 0.455 | 2 | - | - |
| CHMP4C | - | - | - | - | 3 | Gain | - |
| CHMP7 | - | - | - | - | 3 | Gain | - |
| CHRAC1 | - | - | - | - | 3 | Gain | - |
| CHRNA2 | - | - | - | - | 3 | Gain | - |
| CHRNA6 | p.R363S p.Y220C | Missense Missense | SNP SNP | 0.325 0.642 | 3 | Gain | - |
| CHRNB3 | - | - | - | - | 3 | Gain | - |
| CHRND | p.R244H | Missense | SNP | 0.323 | 2 | - | - |
| CHST15 | - | - | - | - | 4 | Gain | - |
| CHST3 | - | - | - | - | 4 | Gain | - |
| CHST5 | p.A150V | Missense | SNP | 0.554 | 2 | - | - |
| CHST9 | - | - | - | - | 3 | Gain | - |
| CHSY3 | p.T772Dfs*18 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
| CHUK | - | - | - | - | 4 | Gain | - |
| CIDEA | - | - | - | - | 3 | Gain | - |
| CILP2 | p.R336* | Nonsense | SNP | 0.500 | 2 | - | - |
| CISD1 | - | - | - | - | 4 | Gain | - |
| CLDN23 | - | - | - | - | 3 | Gain | - |
| CLDN6 | p.A102T | Missense | SNP | 0.550 | 2 | - | - |
| CLN8 | - | - | - | - | 3 | Gain | - |
| CLOCK | p.L123* | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
| CLP1 | p.R302H | Missense | SNP | 0.442 | 2 | - | - |
| CLRN3 | - | - | - | - | 4 | Gain | - |
| CLSTN3 | p.A640T | Missense | SNP | 0.389 | 2 | - | - |
| CLU | - | - | - | - | 3 | Gain | - |
| CLUL1 | - | - | - | - | 3 | Gain | - |
| CLVS1 | - | - | - | - | 3 | Gain | - |
| CNBD1 | - | - | - | - | 3 | Gain | - |
| CNDP1 | - | - | - | - | 3 | Gain | - |
| CNDP2 | - | - | - | - | 3 | Gain | - |
| CNGA4 | p.G96D | Missense | SNP | 0.440 | 2 | - | - |
| CNGB3 | - | - | - | - | 3 | Gain | - |
| CNNM1 | - | - | - | - | 4 | Gain | - |
| CNNM2 | - | - | - | - | 4 | Gain | - |
| CNOT1 | p.R1929* | Nonsense | SNP | 0.461 | 2 | - | - |
| CNOT10 | p.X754_splice | Splice_Site | SNP | 0.440 | 2 | - | - |
| CNOT7 | - | - | - | - | 3 | Gain | - |
| COG3 | p.V465I | Missense | SNP | 0.521 | 2 | - | - |
| COL11A1 | p.V1658I | Missense | SNP | 0.484 | 2 | - | - |
| COL13A1 | - | - | - | - | 4 | Gain | - |
| COL14A1 | p.R846H | Missense | SNP | 0.622 | 3 | Gain | - |
| COL17A1 | p.R177Q | Missense | SNP | 0.331 | 4 | Gain | - |
| COL18A1 | p.P772Qfs*16 | Frame_Shift_Del | DEL | 0.397 | 2 | - | - |
| COL21A1 | p.G632Rfs*24 | Frame_Shift_Ins | INS | 0.283 | 2 | - | - |
| COL22A1 | p.P727L | Missense | SNP | 0.711 | 3 | Gain | - |
| COL3A1 | p.K275Rfs*9 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
| COL6A2 | p.R734C | Missense | SNP | 0.500 | 2 | - | - |
| COL6A3 | p.V1771Sfs*8 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
| COL6A6 | p.E1487G | Missense | SNP | 0.511 | 2 | - | - |
| COL8A2 | p.P94Lfs*143 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| COLEC10 | - | - | - | - | 3 | Gain | - |
| COLEC12 | - | - | - | - | 3 | Gain | - |
| COMMD3 | - | - | - | - | 4 | Gain | - |
| COMMD3-BMI1 | - | - | - | - | 4 | Gain | - |
| COMMD5 | - | - | - | - | 3 | Gain | - |
| COMP | p.P416L | Missense | SNP | 0.513 | 2 | - | - |
| COMTD1 | - | - | - | - | 4 | Gain | - |
| COPS5 | - | - | - | - | 3 | Gain | - |
| COQ6 | p.P373L | Missense | SNP | 0.450 | 2 | - | - |
| CORO7 | p.S433I | Missense | SNP | 0.625 | 2 | - | - |
| COX15 | - | - | - | - | 4 | Gain | - |
| COX6C | - | - | - | - | 3 | Gain | - |
| CPA6 | p.L310I | Missense | SNP | 0.327 | 3 | Gain | - |
| CPAMD8 | p.V1068Wfs*111 | Frame_Shift_Del | DEL | 0.549 | 2 | - | - |
| CPEB3 | - | - | - | - | 4 | Gain | - |
| CPLX4 | - | - | - | - | 3 | Gain | - |
| CPN1 | - | - | - | - | 4 | Gain | - |
| CPNE3 | - | - | - | - | 3 | Gain | - |
| CPNE8 | p.V396Sfs*9 | Frame_Shift_Del | DEL | 0.367 | 2 | - | - |
| CPQ | - | - | - | - | 3 | Gain | - |
| CPS1 | p.K133N | Missense | SNP | 0.565 | 2 | - | - |
| CPSF1 | - | - | - | - | 3 | Gain | - |
| CPSF3 | p.E31K | Missense | SNP | 0.650 | 2 | - | - |
| CPSF4 | p.R238W | Missense | SNP | 0.377 | 2 | - | - |
| CPSF6 | p.V156Cfs*6 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
| CPXM2 | - | - | - | - | 4 | Gain | - |
| CRAMP1 | p.R344H | Missense | SNP | 0.405 | 2 | - | - |
| CREBBP | p.G101V | Missense | SNP | 0.516 | 2 | - | - |
| CREM | - | - | - | - | 4 | Gain | - |
| CRH | - | - | - | - | 3 | Gain | - |
| CRISPLD1 | - | - | - | - | 3 | Gain | - |
| CRTAC1 | - | - | - | - | 4 | Gain | - |
| CRY2 | p.R362H | Missense | SNP | 0.503 | 2 | - | - |
| CSGALNACT1 | - | - | - | - | 3 | Gain | - |
| CSGALNACT2 | - | - | - | - | 3 | Gain | - |
| CSMD1 | - | - | - | - | 3 | Gain | - |
| CSMD3 | - | - | - | - | 3 | Gain | - |
| CSNK1E | p.T235M | Missense | SNP | 0.430 | 2 | - | - |
| CSPP1 | - | - | - | - | 3 | Gain | - |
| CSRNP1 | p.G476D | Missense | SNP | 0.550 | 2 | - | - |
| CSRP3 | p.R100H | Missense | SNP | 0.494 | 2 | - | - |
| CST2 | p.R46H | Missense | SNP | 0.564 | 2 | - | - |
| CSTF2T | - | - | - | - | 4 | Gain | - |
| CTAGE1 | - | - | - | - | 3 | Gain | - |
| CTBP2 | p.A602T | Missense | SNP | 0.316 | 4 | Gain | - |
| CTDP1 | - | - | - | - | 3 | Gain | - |
| CTHRC1 | - | - | - | - | 3 | Gain | - |
| CTIF | - | - | - | - | 3 | Gain | - |
| CTNNA3 | - | - | - | - | 4 | Gain | - |
| CTNND1 | p.R274H | Missense | SNP | 0.461 | 2 | - | - |
| CTNND2 | p.P524L | Missense | SNP | 0.449 | 2 | - | - |
| CTSB | - | - | - | - | 3 | Gain | - |
| CTSF | p.V474M | Missense | SNP | 0.429 | 2 | - | - |
| CUBN | p.R3117H | Missense | SNP | 0.228 | 4 | Gain | - |
| CUEDC2 | - | - | - | - | 4 | Gain | - |
| CUL2 | - | - | - | - | 4 | Gain | - |
| CUL3 | p.R128H | Missense | SNP | 0.424 | 2 | - | - |
| CUTC | - | - | - | - | 4 | Gain | - |
| CUZD1 | - | - | - | - | 4 | Gain | - |
| CWC27 | p.V335* | Frame_Shift_Del | DEL | 0.388 | 2 | - | - |
| CWF19L1 | - | - | - | - | 4 | Gain | - |
| CXCL12 | - | - | - | - | 3 | Gain | - |
| CXorf56 | p.A62V | Missense | SNP | 0.385 | ND | ND | - |
| CXXC1 | - | - | - | - | 3 | Gain | - |
| CYB5A | - | - | - | - | 3 | Gain | - |
| CYC1 | - | - | - | - | 3 | Gain | - |
| CYHR1 | - | - | - | - | 3 | Gain | - |
| CYP11B1 | - | - | - | - | 3 | Gain | - |
| CYP11B2 | - | - | - | - | 3 | Gain | - |
| CYP17A1 | - | - | - | - | 4 | Gain | - |
| CYP26A1 | - | - | - | - | 4 | Gain | - |
| CYP26C1 | - | - | - | - | 4 | Gain | - |
| CYP2C18 | - | - | - | - | 4 | Gain | - |
| CYP2C19 | - | - | - | - | 4 | Gain | - |
| CYP2C8 | - | - | - | - | 4 | Gain | - |
| CYP2C9 | - | - | - | - | 4 | Gain | - |
| CYP2E1 | - | - | - | - | 3 | Gain | - |
| CYP4F8 | p.L385P | Missense | SNP | 0.434 | 2 | - | - |
| CYP7A1 | - | - | - | - | 3 | Gain | - |
| CYP7B1 | p.N131Ifs*4 | Frame_Shift_Del | DEL | 0.310 | 3 | Gain | - |
| DBF4 | p.L409Afs*14 | Frame_Shift_Ins | INS | 0.293 | 2 | - | - |
| DCAF13 | - | - | - | - | 3 | Gain | - |
| DCAF4L2 | - | - | - | - | 3 | Gain | - |
| DCC | - | - | - | - | 3 | Gain | - |
| DCHS1 | p.R2892Q p.G2097D | Missense Missense | SNP SNP | 0.444 0.444 | 2 | - | - |
| DCHS2 | p.S968R | Missense | SNP | 0.375 | 2 | - | - |
| DCLRE1A | - | - | - | - | 4 | Gain | - |
| DCLRE1C | - | - | - | - | 4 | Gain | - |
| DCN | p.T151Nfs*9 | Frame_Shift_Ins | INS | 0.349 | 2 | - | - |
| DCSTAMP | - | - | - | - | 3 | Gain | - |
| DCTN6 | - | - | - | - | 3 | Gain | - |
| DDHD2 | - | - | - | - | 3 | Gain | - |
| DDIT4 | - | - | - | - | 4 | Gain | - |
| DDX17 | p.R439H | Missense | SNP | 0.484 | 2 | - | - |
| DDX21 | - | - | - | - | 4 | Gain | - |
| DDX50 | - | - | - | - | 4 | Gain | - |
| DDX52 | p.E518A | Missense | SNP | 0.433 | 2 | - | - |
| DDX59 | p.N577Ifs*6 | Frame_Shift_Del | DEL | 0.349 | 2 | - | - |
| DDX60L | p.Y1625H | Missense | SNP | 0.508 | 2 | - | - |
| DECR1 | - | - | - | - | 3 | Gain | - |
| DEFA4 | - | - | - | - | 3 | Gain | - |
| DEFA5 | - | - | - | - | 3 | Gain | - |
| DEFA6 | - | - | - | - | 3 | Gain | - |
| DEFB1 | - | - | - | - | 3 | Gain | - |
| DEFB103A | - | - | - | - | 3 | Gain | - |
| DEFB103B | - | - | - | - | 3 | Gain | - |
| DEFB104A | - | - | - | - | 3 | Gain | - |
| DEFB104B | - | - | - | - | 3 | Gain | - |
| DEFB105A | - | - | - | - | 3 | Gain | - |
| DEFB105B | - | - | - | - | 3 | Gain | - |
| DEFB106A | - | - | - | - | 3 | Gain | - |
| DEFB106B | - | - | - | - | 3 | Gain | - |
| DEFB107A | - | - | - | - | 3 | Gain | - |
| DEFB107B | - | - | - | - | 3 | Gain | - |
| DEFB134 | - | - | - | - | 3 | Gain | - |
| DEFB135 | - | - | - | - | 3 | Gain | - |
| DEFB136 | - | - | - | - | 3 | Gain | - |
| DEFB4A | - | - | - | - | 3 | Gain | - |
| DEFB4B | - | - | - | - | 3 | Gain | - |
| DENND3 | - | - | - | - | 3 | Gain | - |
| DEPP1 | - | - | - | - | 3 | Gain | - |
| DEPTOR | - | - | - | - | 3 | Gain | - |
| DERL1 | - | - | - | - | 3 | Gain | - |
| DGAT1 | - | - | - | - | 3 | Gain | - |
| DGKH | p.R273H | Missense | SNP | 0.397 | 2 | - | - |
| DGKI | p.R791H | Missense | SNP | 0.449 | 2 | - | - |
| DHRS12 | p.H120Y | Missense | SNP | 0.478 | 2 | - | - |
| DHRS7C | p.R264H | Missense | SNP | 0.492 | 2 | - | - |
| DHTKD1 | - | - | - | - | 4 | Gain | - |
| DHX32 | - | - | - | - | 4 | Gain | - |
| DIP2C | - | - | - | - | 4 | Gain | - |
| DKK1 | - | - | - | - | 4 | Gain | - |
| DKK4 | - | - | - | - | 3 | Gain | - |
| DLC1 | - | - | - | - | 3 | Gain | - |
| DLG5 | - | - | - | - | 4 | Gain | - |
| DLGAP1 | - | - | - | - | 3 | Gain | - |
| DLGAP2 | - | - | - | - | 3 | Gain | - |
| DMBT1 | - | - | - | - | 4 | Gain | - |
| DMD | p.N3378Tfs*24 | Frame_Shift_Del | DEL | 0.435 | ND | ND | - |
| DMTN | - | - | - | - | 3 | Gain | - |
| DNA2 | - | - | - | - | 4 | Gain | - |
| DNAH5 | p.A244T | Missense | SNP | 0.507 | 2 | - | - |
| DNAJB12 | - | - | - | - | 4 | Gain | - |
| DNAJC1 | - | - | - | - | 4 | Gain | - |
| DNAJC11 | p.R273* | Nonsense | SNP | 0.455 | 2 | - | - |
| DNAJC12 | - | - | - | - | 4 | Gain | - |
| DNAJC5B | - | - | - | - | 3 | Gain | - |
| DNAJC9 | - | - | - | - | 4 | Gain | - |
| DNMBP | - | - | - | - | 4 | Gain | - |
| DNMT3B | p.R538H | Missense | SNP | 0.495 | 2 | - | - |
| DNTT | - | - | - | - | 4 | Gain | - |
| DOC2A | p.K312del | In_Frame_Del | DEL | 0.392 | 2 | - | - |
| DOCK1 | - | - | - | - | 4 | Gain | - |
| DOCK11 | p.Y2012* | Nonsense | SNP | 0.569 | ND | ND | - |
| DOCK5 | - | - | - | - | 3 | Gain | - |
| DOCK7 | p.P526L | Missense | SNP | 0.370 | 2 | - | - |
| DOK1 | p.V175M | Missense | SNP | 0.655 | 2 | - | - |
| DOK2 | - | - | - | - | 3 | Gain | - |
| DOK6 | - | - | - | - | 3 | Gain | - |
| DPCD | - | - | - | - | 4 | Gain | - |
| DPRX | p.V95Sfs*7 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
| DPY19L4 | - | - | - | - | 3 | Gain | - |
| DPYS | - | - | - | - | 3 | Gain | - |
| DPYSL2 | p.F20Lfs*104 p.R481H | Frame_Shift_Del Missense | DEL SNP | 0.668 0.624 | 3 | Gain | - |
| DPYSL4 | - | - | - | - | 3 | Gain | - |
| DRGX | - | - | - | - | 3 | Gain | - |
| DRICH1 | p.E198D | Missense | SNP | 0.487 | 2 | - | - |
| DROSHA | p.R254H | Missense | SNP | 0.595 | 2 | - | - |
| DSC1 | - | - | - | - | 3 | Gain | - |
| DSC2 | - | - | - | - | 3 | Gain | - |
| DSC3 | - | - | - | - | 3 | Gain | - |
| DSCC1 | - | - | - | - | 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 | 0.486 0.515 | 2 | - | - |
| DSTYK | p.L732del | In_Frame_Del | DEL | 0.355 | 2 | - | - |
| DTNA | p.A498Qfs*40 | Frame_Shift_Del | DEL | 0.604 | 3 | Gain | - |
| DTX4 | p.G510Afs*35 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
| DUPD1 | - | - | - | - | 4 | Gain | - |
| DUS3L | p.V440I | Missense | SNP | 0.439 | 2 | - | - |
| DUSP13 | - | - | - | - | 4 | Gain | - |
| DUSP26 | - | - | - | - | 3 | Gain | - |
| DUSP4 | - | - | - | - | 3 | Gain | - |
| DUSP5 | - | - | - | - | 4 | Gain | - |
| DYDC1 | - | - | - | - | 4 | Gain | - |
| DYDC2 | - | - | - | - | 4 | Gain | - |
| DYM | - | - | - | - | 3 | Gain | - |
| DYNAP | - | - | - | - | 3 | Gain | - |
| DYNC1H1 | p.R2831H | Missense | SNP | 0.455 | 2 | - | - |
| DYRK1A | p.X317_splice | Splice_Site | DEL | 0.457 | 2 | - | - |
| E2F5 | - | - | - | - | 3 | Gain | - |
| EBAG9 | - | - | - | - | 3 | Gain | - |
| EBF2 | - | - | - | - | 3 | Gain | - |
| EBF3 | - | - | - | - | 3 | Gain | - |
| EBLN1 | - | - | - | - | 4 | Gain | - |
| ECD | - | - | - | - | 4 | Gain | - |
| ECHDC3 | - | - | - | - | 4 | Gain | - |
| ECHS1 | - | - | - | - | 3 | Gain | - |
| ECI1 | p.T268M | Missense | SNP | 0.579 | 2 | - | - |
| EDRF1 | p.N302Mfs*47 | Frame_Shift_Del | DEL | 0.733 | 4 | Gain | - |
| EEF1AKMT2 | - | - | - | - | 4 | Gain | - |
| EEF1D | - | - | - | - | 3 | Gain | - |
| EFCAB1 | - | - | - | - | 3 | Gain | - |
| EFHC2 | p.E202D | Missense | SNP | 0.468 | ND | ND | - |
| EFNB3 | p.Q331Rfs*39 | Frame_Shift_Del | DEL | 0.407 | 2 | - | - |
| EFR3A | - | - | - | - | 3 | Gain | - |
| EGR2 | - | - | - | - | 4 | Gain | - |
| EGR3 | - | - | - | - | 3 | Gain | - |
| EHBP1L1 | p.R50H | Missense | SNP | 0.485 | 2 | - | - |
| EIF3A | - | - | - | - | 4 | Gain | - |
| EIF3E | - | - | - | - | 3 | Gain | - |
| EIF3H | - | - | - | - | 3 | Gain | - |
| EIF4EBP1 | - | - | - | - | 3 | Gain | - |
| EIF4EBP2 | - | - | - | - | 4 | Gain | - |
| EIF5AL1 | - | - | - | - | 4 | Gain | - |
| ELAC1 | - | - | - | - | 3 | Gain | - |
| ELAVL2 | p.A333V | Missense | SNP | 0.377 | 2 | - | - |
| ELF4 | p.Q341Rfs*30 | Frame_Shift_Del | DEL | 0.476 | ND | ND | - |
| ELMO1 | p.G674R | Missense | SNP | 0.527 | 2 | - | - |
| ELOA2 | - | - | - | - | 3 | Gain | - |
| ELOA3 | - | - | - | - | 3 | Gain | - |
| ELOA3B | - | - | - | - | 3 | Gain | - |
| ELOA3D | - | - | - | - | 3 | Gain | - |
| ELOC | - | - | - | - | 3 | Gain | - |
| ELOVL3 | - | - | - | - | 4 | Gain | - |
| ELOVL7 | p.R115C | Missense | SNP | 0.571 | 2 | - | - |
| ELP2 | - | - | - | - | 3 | Gain | - |
| ELP3 | - | - | - | - | 3 | Gain | - |
| EMC2 | - | - | - | - | 3 | Gain | - |
| EMILIN2 | - | - | - | - | 3 | Gain | - |
| EML6 | p.A1888T | Missense | SNP | 0.493 | 2 | - | - |
| EMX2 | - | - | - | - | 4 | Gain | - |
| ENKUR | - | - | - | - | 4 | Gain | - |
| ENO4 | p.Y584Tfs*31 p.R551C | Frame_Shift_Del Missense | DEL SNP | 0.197 0.223 | 4 | Gain | - |
| ENOSF1 | - | - | - | - | 3 | Gain | - |
| ENPP2 | - | - | - | - | 3 | Gain | - |
| ENPP6 | p.R35H | Missense | SNP | 0.426 | 2 | - | - |
| ENTPD1 | - | - | - | - | 4 | Gain | - |
| ENTPD4 | - | - | - | - | 3 | Gain | - |
| ENTPD6 | p.G444S | Missense | SNP | 0.507 | 2 | - | - |
| ENTPD7 | - | - | - | - | 4 | Gain | - |
| ENY2 | - | - | - | - | 3 | Gain | - |
| EPB41L3 | - | - | - | - | 3 | Gain | - |
| EPC1 | - | - | - | - | 4 | Gain | - |
| EPG5 | - | - | - | - | 3 | Gain | - |
| EPHA2 | p.T526M | Missense | SNP | 0.426 | 2 | - | - |
| EPHX2 | - | - | - | - | 3 | Gain | - |
| EPPIN | p.Y107C | Missense | SNP | 0.484 | 2 | - | - |
| EPPK1 | - | - | - | - | 3 | Gain | - |
| ERBIN | p.D727Ifs*9 p.K988Rfs*24 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.444 0.556 | 2 | - | - |
| ERCC6 | - | - | - | - | 4 | Gain | - |
| ERCC8 | p.A7T | Missense | SNP | 0.492 | 2 | - | - |
| ERI1 | - | - | - | - | 3 | Gain | - |
| ERICH1 | - | - | - | - | 3 | Gain | - |
| ERICH3 | p.N557I | Missense | SNP | 0.421 | 2 | - | - |
| ERICH5 | - | - | - | - | 3 | Gain | - |
| ERLIN1 | - | - | - | - | 4 | Gain | - |
| ERLIN2 | - | - | - | - | 3 | Gain | - |
| ESCO1 | - | - | - | - | 3 | Gain | - |
| ESCO2 | - | - | - | - | 3 | Gain | - |
| ESPL1 | p.A35V | Missense | SNP | 0.529 | 2 | - | - |
| ESRP1 | - | - | - | - | 3 | Gain | - |
| ETV1 | p.T139Hfs*24 | Frame_Shift_Ins | INS | 0.215 | 2 | - | - |
| EVC2 | p.T699M | Missense | SNP | 0.557 | 2 | - | - |
| EVI2A | p.A150V | Missense | SNP | 0.498 | 2 | - | - |
| EXOC6 | - | - | - | - | 4 | Gain | - |
| EXOSC1 | - | - | - | - | 4 | Gain | - |
| EXOSC4 | - | - | - | - | 3 | Gain | - |
| EXT1 | - | - | - | - | 3 | Gain | - |
| EXTL1 | p.R31H | Missense | SNP | 0.473 | 2 | - | - |
| EXTL3 | - | - | - | - | 3 | Gain | - |
| EYA1 | - | - | - | - | 3 | Gain | - |
| EZH1 | p.A379V | Missense | SNP | 0.455 | 2 | - | - |
| F13A1 | p.P565L | Missense | SNP | 0.500 | 2 | - | - |
| FAAP100 | p.L21Pfs*12 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
| FABP12 | - | - | - | - | 3 | Gain | - |
| FABP4 | - | - | - | - | 3 | Gain | - |
| FABP5 | - | - | - | - | 3 | Gain | - |
| FABP9 | - | - | - | - | 3 | Gain | - |
| FAM107B | - | - | - | - | 4 | Gain | - |
| FAM110B | - | - | - | - | 3 | Gain | - |
| FAM111B | p.R94H | Missense | SNP | 0.434 | 2 | - | - |
| FAM118B | p.L217F | Missense | SNP | 0.489 | 2 | - | - |
| FAM129A | p.X392_splice | Splice_Site | SNP | 0.408 | 2 | - | - |
| FAM135A | p.S1485L | Missense | SNP | 0.541 | 2 | - | - |
| FAM135B | p.K1101N | Missense | SNP | 0.312 | 3 | Gain | - |
| FAM13C | - | - | - | - | 4 | Gain | - |
| FAM149B1 | - | - | - | - | 4 | Gain | - |
| FAM160B1 | - | - | - | - | 4 | Gain | - |
| FAM160B2 | - | - | - | - | 3 | Gain | - |
| FAM166A | p.L210R | Missense | SNP | 0.590 | 2 | - | - |
| FAM167A | - | - | - | - | 3 | Gain | - |
| FAM170B | - | - | - | - | 3 | Gain | - |
| FAM171A1 | - | - | - | - | 4 | Gain | - |
| FAM175A | p.N303Ifs*17 | Frame_Shift_Del | DEL | 0.529 | ND | ND | - |
| FAM185A | - | - | - | - | 1 | Loss | - |
| FAM186B | p.E667K | Missense | SNP | 0.516 | 2 | - | - |
| FAM193A | p.V231Sfs*81 | Frame_Shift_Del | DEL | 0.374 | 2 | - | - |
| FAM204A | - | - | - | - | 4 | Gain | - |
| FAM208B | - | - | - | - | 4 | Gain | - |
| FAM210A | - | - | - | - | 3 | Gain | - |
| FAM241B | - | - | - | - | 4 | Gain | - |
| FAM24A | - | - | - | - | 4 | Gain | - |
| FAM24B | - | - | - | - | 4 | Gain | - |
| FAM45A | - | - | - | - | 4 | Gain | - |
| FAM46B | p.R288W | Missense | SNP | 0.250 | ND | ND | - |
| FAM47B | p.A360T | Missense | SNP | 0.503 | ND | ND | - |
| FAM49B | - | - | - | - | 3 | Gain | - |
| FAM53B | - | - | - | - | 4 | Gain | - |
| FAM69C | - | - | - | - | 3 | Gain | - |
| FAM71E2 | p.P40L | Missense | SNP | 0.500 | 2 | - | - |
| FAM83A | - | - | - | - | 3 | Gain | - |
| FAM83H | - | - | - | - | 3 | Gain | - |
| FAM84B | - | - | - | - | 3 | Gain | - |
| FAM86B1 | - | - | - | - | 3 | Gain | - |
| FAM91A1 | - | - | - | - | 3 | Gain | - |
| FAM92A | - | - | - | - | 3 | Gain | - |
| FAM98A | p.K174Nfs*2 | Frame_Shift_Del | DEL | 0.371 | 2 | - | - |
| FANK1 | - | - | - | - | 4 | Gain | - |
| FAS | - | - | - | - | 4 | Gain | - |
| FAT1 | p.D2158Rfs*20 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
| FBH1 | - | - | - | - | 4 | Gain | - |
| FBLN2 | p.R1180C | Missense | SNP | 0.261 | 2 | - | - |
| FBN3 | p.G1577Vfs*72 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
| FBXL15 | - | - | - | - | 4 | Gain | - |
| FBXL19 | p.L381Yfs*86 | Frame_Shift_Del | DEL | 0.354 | 2 | - | - |
| FBXL6 | - | - | - | - | 3 | Gain | - |
| FBXO15 | - | - | - | - | 3 | Gain | - |
| FBXO16 | - | - | - | - | 3 | Gain | - |
| FBXO25 | - | - | - | - | 3 | Gain | - |
| FBXO32 | - | - | - | - | 3 | Gain | - |
| FBXO43 | - | - | - | - | 3 | Gain | - |
| FBXW4 | - | - | - | - | 4 | Gain | - |
| FDFT1 | - | - | - | - | 3 | Gain | - |
| FECH | - | - | - | - | 3 | Gain | - |
| FER1L6 | p.I975T | Missense | SNP | 0.252 | 3 | Gain | - |
| FFAR4 | - | - | - | - | 4 | Gain | - |
| FGD4 | p.R431H | Missense | SNP | 0.489 | 2 | - | - |
| FGF17 | - | - | - | - | 3 | Gain | - |
| FGF20 | - | - | - | - | 3 | Gain | - |
| FGF5 | p.G148Efs*45 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
| FGF6 | p.V127M | Missense | SNP | 0.470 | 2 | - | - |
| FGF8 | - | - | - | - | 4 | Gain | - |
| FGFBP3 | - | - | - | - | 4 | Gain | - |
| FGFR1 | - | - | - | - | 3 | Gain | - |
| FGFR2 | - | - | - | - | 4 | Gain | - |
| FGL1 | - | - | - | - | 3 | Gain | - |
| FHAD1 | p.S26T | Missense | SNP | 0.453 | 2 | - | - |
| FHOD3 | - | - | - | - | 3 | Gain | - |
| FLI1 | p.M348L | Missense | SNP | 0.459 | 2 | - | - |
| FLNA | p.A1188V | Missense | SNP | 0.572 | ND | ND | - |
| FLOT2 | p.A400V | Missense | SNP | 0.436 | 2 | - | - |
| FLT4 | p.P619Lfs*20 p.P30L | Frame_Shift_Del Missense | DEL SNP | 0.487 0.474 | 2 | - | - |
| FNTA | - | - | - | - | 3 | Gain | - |
| FO681492.1 | - | - | - | - | 3 | Gain | - |
| FOXH1 | - | - | - | - | 3 | Gain | - |
| FOXI1 | p.R143C | Missense | SNP | 0.439 | 2 | - | - |
| FOXI2 | p.A77T | Missense | SNP | 0.188 | 4 | Gain | - |
| FOXP1 | p.L414* | Frame_Shift_Del | DEL | 0.410 | 2 | - | - |
| FRA10AC1 | p.R232Efs*96 | Frame_Shift_Del | DEL | 0.135 | 4 | Gain | - |
| FRAT1 | - | - | - | - | 4 | Gain | - |
| FRAT2 | - | - | - | - | 4 | Gain | - |
| FREM1 | p.R507H | Missense | SNP | 0.421 | 2 | - | - |
| FRG2B | - | - | - | - | 3 | Gain | - |
| FRMD4A | - | - | - | - | 4 | Gain | - |
| FRMPD2 | - | - | - | - | 3 | Gain | - |
| FSBP | - | - | - | - | 3 | Gain | - |
| FSCN3 | p.R285C | Missense | SNP | 0.472 | 2 | - | - |
| FSIP2 | p.V5823Yfs*24 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
| FUOM | - | - | - | - | 3 | Gain | - |
| FUT10 | - | - | - | - | 3 | Gain | - |
| FUT11 | - | - | - | - | 4 | Gain | - |
| FUT5 | p.R14C | Missense | SNP | 0.491 | 2 | - | - |
| FXYD4 | - | - | - | - | 3 | Gain | - |
| FZD3 | - | - | - | - | 3 | Gain | - |
| FZD5 | p.L241M | Missense | SNP | 0.386 | 2 | - | - |
| FZD6 | - | - | - | - | 3 | Gain | - |
| FZD8 | - | - | - | - | 4 | Gain | - |
| G6PC2 | p.R79Q | Missense | SNP | 0.456 | 2 | - | - |
| GABRB1 | p.A363T | Missense | SNP | 0.434 | 2 | - | - |
| GABRB3 | p.L170Pfs*11 | Frame_Shift_Ins | INS | 0.358 | 2 | - | - |
| GAD2 | - | - | - | - | 4 | Gain | - |
| GALNT1 | - | - | - | - | 3 | Gain | - |
| GALR1 | - | - | - | - | 3 | Gain | - |
| GAPT | p.P101L | Missense | SNP | 0.572 | 2 | - | - |
| GAREM1 | - | - | - | - | 3 | Gain | - |
| GATA3 | - | - | - | - | 4 | Gain | - |
| GATA4 | - | - | - | - | 3 | Gain | - |
| GATA6 | - | - | - | - | 3 | Gain | - |
| GATAD2A | p.A580T | Missense | SNP | 0.269 | 2 | - | - |
| GBF1 | - | - | - | - | 4 | Gain | - |
| GBGT1 | p.R243H | Missense | SNP | 0.486 | 2 | - | - |
| GDAP1 | - | - | - | - | 3 | Gain | - |
| GDAP1L1 | p.E199K | Missense | SNP | 0.496 | 2 | - | - |
| GDF10 | - | - | - | - | 3 | Gain | - |
| GDF2 | - | - | - | - | 3 | Gain | - |
| GDF5 | p.R325C | Missense | SNP | 0.410 | 2 | - | - |
| GDF6 | - | - | - | - | 3 | Gain | - |
| GDI2 | - | - | - | - | 4 | Gain | - |
| GEM | p.R56Q | Missense | SNP | 0.262 | 3 | Gain | - |
| GEMIN2 | p.K146Nfs*24 | Frame_Shift_Del | DEL | 0.583 | 2 | - | - |
| GFRA1 | - | - | - | - | 4 | Gain | - |
| GFRA2 | - | - | - | - | 3 | Gain | - |
| GGH | - | - | - | - | 3 | Gain | - |
| GGN | p.A115V | Missense | SNP | 0.540 | 2 | - | - |
| GHDC | p.E205K | Missense | SNP | 0.420 | 2 | - | - |
| GHITM | - | - | - | - | 4 | Gain | - |
| GIMAP8 | p.R81H | Missense | SNP | 0.530 | 2 | - | - |
| GINS4 | - | - | - | - | 3 | Gain | - |
| GIPC1 | p.P50Lfs*48 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
| GJD4 | - | - | - | - | 4 | Gain | - |
| GLI4 | - | - | - | - | 3 | Gain | - |
| GLOD4 | p.R50Q | Missense | SNP | 0.569 | 2 | - | - |
| GLRX3 | - | - | - | - | 3 | Gain | - |
| GLTSCR1 | p.E1438K | Missense | SNP | 0.632 | ND | ND | - |
| GLUD1 | - | - | - | - | 4 | Gain | - |
| GLYCTK | p.A481T | Missense | SNP | 0.561 | 2 | - | - |
| GLYR1 | p.R381Afs*15 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
| GM2A | p.R169H | Missense | SNP | 0.449 | 2 | - | - |
| GMEB1 | p.A499V | Missense | SNP | 0.497 | 2 | - | - |
| GML | - | - | - | - | 3 | Gain | - |
| GNAL | - | - | - | - | 3 | Gain | - |
| GNB1L | p.V108M | Missense | SNP | 0.414 | 2 | - | - |
| GNMT | p.D272N | Missense | SNP | 0.450 | 2 | - | - |
| GNRH1 | - | - | - | - | 3 | Gain | - |
| GOLGA4 | p.E727D | Missense | SNP | 0.547 | 2 | - | - |
| GOLGA7 | - | - | - | - | 3 | Gain | - |
| GOLGA7B | - | - | - | - | 4 | Gain | - |
| GOLPH3 | p.T148M | Missense | SNP | 0.443 | 2 | - | - |
| GOT1 | - | - | - | - | 4 | Gain | - |
| GOT1L1 | - | - | - | - | 3 | Gain | - |
| GPAA1 | p.X389_splice | Splice_Site | SNP | 0.680 | 3 | Gain | - |
| GPAM | - | - | - | - | 4 | Gain | - |
| GPAT4 | - | - | - | - | 3 | Gain | - |
| GPIHBP1 | - | - | - | - | 3 | Gain | - |
| GPR158 | - | - | - | - | 4 | Gain | - |
| GPR20 | - | - | - | - | 3 | Gain | - |
| GPR26 | - | - | - | - | 4 | Gain | - |
| GPR34 | p.S62Cfs*23 | Frame_Shift_Del | DEL | 0.417 | ND | ND | - |
| GPR85 | p.A311V | Missense | SNP | 0.292 | 2 | - | - |
| GPRASP2 | p.T88M | Missense | SNP | 0.475 | ND | ND | - |
| GPRIN2 | - | - | - | - | 3 | Gain | - |
| GPRIN3 | p.I138L | Missense | SNP | 0.494 | 2 | - | - |
| GPT | - | - | - | - | 3 | Gain | - |
| GRB10 | p.A166T | Missense | SNP | 0.419 | 2 | - | - |
| GREB1L | - | - | - | - | 3 | Gain | - |
| GRHL2 | - | - | - | - | 3 | Gain | - |
| GRID1 | p.A243V | Missense | SNP | 0.349 | 4 | Gain | - |
| GRINA | - | - | - | - | 3 | Gain | - |
| GRK5 | - | - | - | - | 4 | Gain | - |
| GRP | - | - | - | - | 3 | Gain | - |
| GSDMC | - | - | - | - | 3 | Gain | - |
| GSDMD | - | - | - | - | 3 | Gain | - |
| GSK3A | p.V133M | Missense | SNP | 0.458 | 2 | - | - |
| GSR | - | - | - | - | 3 | Gain | - |
| GSTO1 | - | - | - | - | 4 | Gain | - |
| GSTO2 | - | - | - | - | 4 | Gain | - |
| GTF2E2 | - | - | - | - | 3 | Gain | - |
| GTPBP4 | - | - | - | - | 4 | Gain | - |
| GUCY1B3 | p.L472I | Missense | SNP | 0.345 | ND | ND | - |
| H2AFY2 | - | - | - | - | 4 | Gain | - |
| HABP2 | - | - | - | - | 4 | Gain | - |
| HACD1 | - | - | - | - | 4 | Gain | - |
| HADHB | p.K474N | Missense | SNP | 0.516 | 2 | - | - |
| HAS2 | - | - | - | - | 3 | Gain | - |
| HAUS1 | - | - | - | - | 3 | Gain | - |
| HBE1 | p.A139V | Missense | SNP | 0.445 | 2 | - | - |
| HCFC1 | p.R524W | Missense | SNP | 0.472 | ND | ND | - |
| HCN3 | p.R502H | Missense | SNP | 0.467 | 2 | - | - |
| HDAC5 | p.I933Lfs*14 | Frame_Shift_Del | DEL | 0.420 | 2 | - | - |
| HDGF | p.S218Lfs*? | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
| HDHD2 | - | - | - | - | 3 | Gain | - |
| HDHD3 | p.Q92H | Missense | SNP | 0.440 | 2 | - | - |
| HDLBP | p.R163H | Missense | SNP | 0.333 | 2 | - | - |
| HEATR6 | p.Q693H | Missense | SNP | 0.286 | 2 | - | - |
| HECTD1 | p.I2041Lfs*27 | Frame_Shift_Del | DEL | 0.300 | 2 | - | - |
| HECTD2 | p.X170_splice | Splice_Site | SNP | 0.122 | 4 | Gain | - |
| HELLS | - | - | - | - | 4 | Gain | - |
| HELZ | p.A149T | Missense | SNP | 0.515 | 2 | - | - |
| HERC4 | - | - | - | - | 4 | Gain | - |
| HEY1 | - | - | - | - | 3 | Gain | - |
| HFE | p.L122M | Missense | SNP | 0.530 | 2 | - | - |
| HGH1 | - | - | - | - | 3 | Gain | - |
| HGSNAT | - | - | - | - | 3 | Gain | - |
| HHEX | - | - | - | - | 4 | Gain | - |
| HHLA1 | - | - | - | - | 3 | Gain | - |
| HIC2 | p.T549M | Missense | SNP | 0.394 | 2 | - | - |
| HIF1AN | - | - | - | - | 4 | Gain | - |
| HIST1H4C | p.T72I | Missense | SNP | 0.457 | 2 | - | - |
| HK1 | p.T605M | Missense | SNP | 0.181 | 4 | Gain | - |
| HKDC1 | - | - | - | - | 4 | Gain | - |
| HLA-F | p.A203T | Missense | SNP | 0.533 | 2 | - | - |
| HMBOX1 | p.R35H | Missense | SNP | 0.329 | 3 | Gain | - |
| HMSD | - | - | - | - | 3 | Gain | - |
| HMX2 | - | - | - | - | 4 | Gain | - |
| HMX3 | - | - | - | - | 4 | Gain | - |
| HNF4G | - | - | - | - | 3 | Gain | - |
| HNRNPF | - | - | - | - | 3 | Gain | - |
| HNRNPH3 | - | - | - | - | 4 | Gain | - |
| HNRNPK | p.R268W | Missense | SNP | 0.371 | 2 | - | - |
| HOGA1 | - | - | - | - | 4 | Gain | - |
| HOOK3 | - | - | - | - | 3 | Gain | - |
| HOXA3 | p.Q302Pfs*42 | Frame_Shift_Ins | INS | 0.228 | 2 | - | - |
| HPCA | p.R118Q | Missense | SNP | 0.383 | 2 | - | - |
| HPS1 | - | - | - | - | 4 | Gain | - |
| HPS6 | - | - | - | - | 4 | Gain | - |
| HPSE2 | - | - | - | - | 4 | Gain | - |
| HR | - | - | - | - | 3 | Gain | - |
| HRH4 | - | - | - | - | 3 | Gain | - |
| HS6ST2 | p.R94C | Missense | SNP | 0.478 | ND | ND | - |
| HSBP1L1 | - | - | - | - | 3 | Gain | - |
| HSF1 | - | - | - | - | 3 | Gain | - |
| HSPA12A | - | - | - | - | 4 | Gain | - |
| HSPA14 | - | - | - | - | 4 | Gain | - |
| HTR3A | p.S178L | Missense | SNP | 0.397 | 2 | - | - |
| HTR7 | - | - | - | - | 4 | Gain | - |
| HTRA1 | - | - | - | - | 4 | Gain | - |
| HTRA4 | - | - | - | - | 3 | Gain | - |
| HTT | p.R416H | Missense | SNP | 0.514 | 2 | - | - |
| HUNK | p.E596K | Missense | SNP | 0.517 | 2 | - | - |
| ICAM5 | p.R434H | Missense | SNP | 0.423 | 2 | - | - |
| IDE | - | - | - | - | 4 | Gain | - |
| IDH1 | p.R132H | Missense | SNP | 0.281 | 2 | - | - |
| IDI1 | - | - | - | - | 4 | Gain | - |
| IDI2 | - | - | - | - | 4 | Gain | - |
| IDO1 | - | - | - | - | 3 | Gain | - |
| IDO2 | - | - | - | - | 3 | Gain | - |
| IER3IP1 | - | - | - | - | 3 | Gain | - |
| IFIT1 | - | - | - | - | 4 | Gain | - |
| IFIT1B | - | - | - | - | 4 | Gain | - |
| IFIT2 | - | - | - | - | 4 | Gain | - |
| IFIT3 | - | - | - | - | 4 | Gain | - |
| IFIT5 | - | - | - | - | 4 | Gain | - |
| IFNL2 | p.F137L p.R152W | Missense Missense | SNP SNP | 0.057 0.633 | 2 | - | - |
| IGF2BP1 | p.G541R | Missense | SNP | 0.358 | 2 | - | - |
| IKBKB | - | - | - | - | 3 | Gain | - |
| IKZF5 | - | - | - | - | 4 | Gain | - |
| IL15RA | - | - | - | - | 4 | Gain | - |
| IL17RC | p.W167R | Missense | SNP | 0.560 | 2 | - | - |
| IL17RD | p.A453V | Missense | SNP | 0.447 | 2 | - | - |
| IL2RA | - | - | - | - | 4 | Gain | - |
| IL31RA | p.G534Efs*7 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
| IL7 | - | - | - | - | 3 | Gain | - |
| ILKAP | p.S202Qfs*52 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
| IMPA1 | - | - | - | - | 3 | Gain | - |
| IMPA2 | - | - | - | - | 3 | Gain | - |
| IMPACT | - | - | - | - | 3 | Gain | - |
| IMPAD1 | - | - | - | - | 3 | Gain | - |
| INA | - | - | - | - | 4 | Gain | - |
| INO80C | - | - | - | - | 3 | Gain | - |
| INPP5A | - | - | - | - | 3 | Gain | - |
| INPP5F | - | - | - | - | 4 | Gain | - |
| INSM2 | p.H309N | Missense | SNP | 0.545 | 2 | - | - |
| INSYN2 | - | - | - | - | 4 | Gain | - |
| INTS10 | - | - | - | - | 3 | Gain | - |
| INTS5 | p.S1010del | In_Frame_Del | DEL | 0.512 | 2 | - | - |
| INTS6L | p.R305Q | Missense | SNP | 0.465 | ND | ND | - |
| INTS8 | - | - | - | - | 3 | Gain | - |
| INTS9 | - | - | - | - | 3 | Gain | - |
| INVS | p.N1061Kfs*20 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
| IPMK | - | - | - | - | 4 | Gain | - |
| IQANK1 | - | - | - | - | 3 | Gain | - |
| IRGC | p.V89I | Missense | SNP | 0.515 | 2 | - | - |
| IRS1 | p.R998Vfs*13 | Frame_Shift_Del | DEL | 0.398 | 2 | - | - |
| ISL2 | p.G173E | Missense | SNP | 0.448 | 2 | - | - |
| ISM1 | p.A412V | Missense | SNP | 0.378 | 2 | - | - |
| ITGA11 | p.N1031S | Missense | SNP | 0.461 | 2 | - | - |
| ITGA8 | - | - | - | - | 4 | Gain | - |
| ITGB1 | - | - | - | - | 4 | Gain | - |
| ITIH2 | - | - | - | - | 4 | Gain | - |
| ITIH5 | - | - | - | - | 4 | Gain | - |
| ITPRIP | - | - | - | - | 4 | Gain | - |
| JAK1 | p.P430Rfs*2 p.R997W p.R108Q | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.520 0.413 0.386 | 2 | - | - |
| JAKMIP3 | - | - | - | - | 3 | Gain | - |
| JCAD | - | - | - | - | 4 | Gain | - |
| JMJD1C | - | - | - | - | 4 | Gain | - |
| JPH1 | - | - | - | - | 3 | Gain | - |
| JPH2 | p.A595V | Missense | SNP | 0.552 | 2 | - | - |
| JRK | - | - | - | - | 3 | Gain | - |
| KANK3 | p.D792N | Missense | SNP | 0.418 | 2 | - | - |
| KAT6A | - | - | - | - | 3 | Gain | - |
| KAT6B | - | - | - | - | 4 | Gain | - |
| KATNAL2 | - | - | - | - | 3 | Gain | - |
| KAZALD1 | - | - | - | - | 4 | Gain | - |
| KBTBD11 | - | - | - | - | 3 | Gain | - |
| KBTBD11-OT1 | - | - | - | - | 3 | Gain | - |
| KBTBD13 | p.T162M | Missense | SNP | 0.397 | 2 | - | - |
| KCNB2 | - | - | - | - | 3 | Gain | - |
| KCNC1 | p.K457Rfs*20 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
| KCNC4 | p.R413W | Missense | SNP | 0.575 | 2 | - | - |
| KCNG2 | - | - | - | - | 3 | Gain | - |
| KCNH2 | p.W497* p.R472H | Nonsense Missense | SNP SNP | 0.384 0.461 | 2 | - | - |
| KCNH5 | p.V58I | Missense | SNP | 0.440 | 2 | - | - |
| KCNIP2 | - | - | - | - | 4 | Gain | - |
| KCNJ4 | p.P433L | Missense | SNP | 0.475 | 2 | - | - |
| KCNK18 | - | - | - | - | 4 | Gain | - |
| KCNK9 | - | - | - | - | 3 | Gain | - |
| KCNMA1 | - | - | - | - | 4 | Gain | - |
| KCNQ3 | - | - | - | - | 3 | Gain | - |
| KCNS2 | - | - | - | - | 3 | Gain | - |
| KCNU1 | - | - | - | - | 3 | Gain | - |
| KCNV1 | - | - | - | - | 3 | Gain | - |
| KCTD1 | - | - | - | - | 3 | Gain | - |
| KCTD10 | p.R308Q | Missense | SNP | 0.500 | 2 | - | - |
| KCTD18 | p.S301R | Missense | SNP | 0.492 | 2 | - | - |
| KCTD8 | p.L209R | Missense | SNP | 0.260 | 2 | - | - |
| KCTD9 | - | - | - | - | 3 | Gain | - |
| KDM2B | p.K26Rfs*81 | Frame_Shift_Del | DEL | 0.399 | 2 | - | - |
| KDM4C | p.Y1011Mfs*16 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
| KDM5A | p.R674Q | Missense | SNP | 0.353 | 2 | - | - |
| KDSR | - | - | - | - | 3 | Gain | - |
| KHDRBS3 | - | - | - | - | 3 | Gain | - |
| KIAA1161 | p.R673H | Missense | SNP | 0.518 | ND | ND | - |
| KIAA1217 | p.R976Gfs*16 p.A233T p.T1868A | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.715 0.271 0.268 | 4 | Gain | - |
| KIAA1328 | - | - | - | - | 3 | Gain | - |
| KIAA1522 | p.A247T | Missense | SNP | 0.579 | 2 | - | - |
| KIAA1549 | p.L283* | Frame_Shift_Del | DEL | 0.310 | 2 | - | - |
| KIAA1614 | p.P50Qfs*15 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
| KIF11 | - | - | - | - | 4 | Gain | - |
| KIF13A | p.A364T | Missense | SNP | 0.583 | 2 | - | - |
| KIF13B | - | - | - | - | 3 | Gain | - |
| KIF1BP | - | - | - | - | 4 | Gain | - |
| KIF20B | - | - | - | - | 4 | Gain | - |
| KIF21B | p.V33I | Missense | SNP | 0.389 | 2 | - | - |
| KIF27 | p.A1067V | Missense | SNP | 0.466 | 2 | - | - |
| KIF5B | - | - | - | - | 4 | Gain | - |
| KIFC2 | - | - | - | - | 3 | Gain | - |
| KIN | - | - | - | - | 4 | Gain | - |
| KLF10 | - | - | - | - | 3 | Gain | - |
| KLF6 | - | - | - | - | 4 | Gain | - |
| KLHL1 | p.G35Efs*31 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
| KLHL14 | - | - | - | - | 3 | Gain | - |
| KLHL23 | p.C126Lfs*2 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
| KLHL29 | p.Y227C | Missense | SNP | 0.436 | 2 | - | - |
| KLHL38 | - | - | - | - | 3 | Gain | - |
| KLHL42 | p.C399Vfs*44 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
| KLLN | - | - | - | - | 4 | Gain | - |
| KMT2B | p.P1101Lfs*81 p.R1400C | Frame_Shift_Del Missense | DEL SNP | 0.458 0.401 | 2 | - | - |
| KMT2C | p.S143Vfs*3 p.P1838H | Frame_Shift_Del Missense | DEL SNP | 0.354 0.626 | 2 | - | - |
| KMT2D | p.P2354Lfs*30 p.R5086* | Frame_Shift_Del Nonsense | DEL SNP | 0.490 0.367 | 2 | - | - |
| KMT2E | p.M1354* | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| KNDC1 | p.Q1704* | Nonsense | SNP | 0.746 | 3 | Gain | - |
| KRBOX1 | p.Q77Sfs*6 | Frame_Shift_Del | DEL | 0.195 | 2 | - | - |
| KRT34 | p.R376W | Missense | SNP | 0.512 | 2 | - | - |
| KYAT3 | p.I153T | Missense | SNP | 0.411 | 2 | - | - |
| L3MBTL4 | - | - | - | - | 3 | Gain | - |
| LACTB2 | - | - | - | - | 3 | Gain | - |
| LAMA1 | - | - | - | - | 3 | Gain | - |
| LAMA3 | p.P1658Lfs*91 p.R1841H | Frame_Shift_Del Missense | DEL SNP | 0.263 0.623 | 3 | Gain | - |
| LAMC3 | p.R152H | Missense | SNP | 0.444 | 2 | - | - |
| LAPTM4B | - | - | - | - | 3 | Gain | - |
| LARP4B | p.T163Hfs*47 | Frame_Shift_Del | DEL | 0.302 | 4 | Gain | - |
| LBX1 | - | - | - | - | 4 | Gain | - |
| LCLAT1 | p.N222Mfs*21 | Frame_Shift_Del | DEL | 0.603 | 2 | - | - |
| LCOR | - | - | - | - | 4 | Gain | - |
| LCT | p.A952T | Missense | SNP | 0.453 | 2 | - | - |
| LDB1 | - | - | - | - | 4 | Gain | - |
| LDB3 | - | - | - | - | 4 | Gain | - |
| LDLRAD4 | - | - | - | - | 3 | Gain | - |
| LEFTY2 | p.P286Rfs*41 | Frame_Shift_Del | DEL | 0.473 | 2 | - | - |
| LEP | p.G8R | Missense | SNP | 0.474 | 2 | - | - |
| LEPROTL1 | - | - | - | - | 3 | Gain | - |
| LETM2 | - | - | - | - | 3 | Gain | - |
| LGI1 | - | - | - | - | 4 | Gain | - |
| LGI3 | - | - | - | - | 3 | Gain | - |
| LGR4 | p.R304C | Missense | SNP | 0.488 | 2 | - | - |
| LHPP | - | - | - | - | 4 | Gain | - |
| LHX2 | p.T374Pfs*5 | Frame_Shift_Del | DEL | 0.445 | 2 | - | - |
| LIG3 | p.S241Rfs*65 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
| LIG4 | p.D868Y | Missense | SNP | 0.529 | 2 | - | - |
| LIMA1 | p.T537Lfs*38 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
| LIMCH1 | p.P998S | Missense | SNP | 0.333 | 2 | - | - |
| LIPA | - | - | - | - | 4 | Gain | - |
| LIPE | p.E943D | Missense | SNP | 0.461 | 2 | - | - |
| LIPF | - | - | - | - | 4 | Gain | - |
| LIPG | - | - | - | - | 3 | Gain | - |
| LIPJ | - | - | - | - | 4 | Gain | - |
| LIPK | - | - | - | - | 4 | Gain | - |
| LIPM | - | - | - | - | 4 | Gain | - |
| LIPN | - | - | - | - | 4 | Gain | - |
| LMAN1 | - | - | - | - | 3 | Gain | - |
| LONRF1 | - | - | - | - | 3 | Gain | - |
| LOXHD1 | - | - | - | - | 3 | Gain | - |
| LOXL2 | - | - | - | - | 3 | Gain | - |
| LOXL3 | p.R566H p.R148C | Missense Missense | SNP SNP | 0.542 0.559 | 2 | - | - |
| LOXL4 | p.E431D | Missense | SNP | 0.284 | 4 | Gain | - |
| LPA | p.R1464Q | Missense | SNP | 0.545 | 2 | - | - |
| LPAR5 | p.R78C | Missense | SNP | 0.565 | 2 | - | - |
| LPIN2 | - | - | - | - | 3 | Gain | - |
| LPL | - | - | - | - | 3 | Gain | - |
| LRBA | p.R1992Q | Missense | SNP | 0.443 | 2 | - | - |
| LRIT1 | - | - | - | - | 4 | Gain | - |
| LRIT2 | - | - | - | - | 4 | Gain | - |
| LRMDA | - | - | - | - | 4 | Gain | - |
| LRP1 | p.R1628H | Missense | SNP | 0.463 | 2 | - | - |
| LRP12 | - | - | - | - | 3 | Gain | - |
| LRP1B | p.G1820E | Missense | SNP | 0.475 | 2 | - | - |
| LRRC14 | - | - | - | - | 3 | Gain | - |
| LRRC18 | - | - | - | - | 3 | Gain | - |
| LRRC20 | p.A121V | Missense | SNP | 0.408 | 4 | Gain | - |
| LRRC23 | - | - | - | - | 2 | - | LRRC23--AC093512.2 |
| LRRC24 | - | - | - | - | 3 | Gain | - |
| LRRC27 | - | - | - | - | 3 | Gain | - |
| LRRC30 | - | - | - | - | 3 | Gain | - |
| LRRC3B | p.T201Lfs*17 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
| LRRC46 | p.P282H | Missense | SNP | 0.434 | 2 | - | - |
| LRRC6 | - | - | - | - | 3 | Gain | - |
| LRRC69 | - | - | - | - | 3 | Gain | - |
| LRRCC1 | - | - | - | - | 3 | Gain | - |
| LRRIQ1 | p.P1237H | Missense | SNP | 0.396 | 2 | - | - |
| LRRIQ3 | p.K244Nfs*17 | Frame_Shift_Del | DEL | 0.366 | 2 | - | - |
| LRRTM3 | - | - | - | - | 4 | Gain | - |
| LSM1 | - | - | - | - | 3 | Gain | - |
| LTBP2 | p.V1543I | Missense | SNP | 0.368 | 2 | - | - |
| LY6D | - | - | - | - | 3 | Gain | - |
| LY6E | - | - | - | - | 3 | Gain | - |
| LY6H | - | - | - | - | 3 | Gain | - |
| LY6K | - | - | - | - | 3 | Gain | - |
| LY6L | - | - | - | - | 3 | Gain | - |
| LY96 | - | - | - | - | 3 | Gain | - |
| LYN | - | - | - | - | 3 | Gain | - |
| LYNX1 | - | - | - | - | 3 | Gain | - |
| LYNX1-SLURP2 | - | - | - | - | 3 | Gain | - |
| LYPD2 | - | - | - | - | 3 | Gain | - |
| LYPLA1 | - | - | - | - | 3 | Gain | - |
| LYST | p.R3449Q | Missense | SNP | 0.422 | 2 | - | - |
| LYZL1 | p.G102S | Missense | SNP | 0.218 | 4 | Gain | - |
| LYZL2 | - | - | - | - | 4 | Gain | - |
| LZTR1 | p.A392V | Missense | SNP | 0.527 | 2 | - | - |
| LZTS1 | - | - | - | - | 3 | Gain | - |
| LZTS2 | - | - | - | - | 4 | Gain | - |
| MACF1 | p.R4914H | Missense | SNP | 0.471 | 2 | - | - |
| MAF1 | - | - | - | - | 3 | Gain | - |
| MAFA | - | - | - | - | 3 | Gain | - |
| MAGED2 | p.X362_splice | Splice_Site | SNP | 0.476 | ND | ND | - |
| MAK16 | - | - | - | - | 3 | Gain | - |
| MAL2 | - | - | - | - | 3 | Gain | - |
| MALRD1 | - | - | - | - | 4 | Gain | - |
| MALT1 | - | - | - | - | 3 | Gain | - |
| MAOA | p.R454* | Nonsense | SNP | 0.500 | ND | ND | - |
| MAP1S | p.S595* | Frame_Shift_Ins | INS | 0.385 | 2 | - | - |
| MAP3K10 | p.P504Lfs*10 | Frame_Shift_Del | DEL | 0.524 | 2 | - | - |
| MAP3K8 | - | - | - | - | 4 | Gain | - |
| MAP4K3 | p.G190Vfs*16 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
| MAPK15 | - | - | - | - | 3 | Gain | - |
| MAPK4 | p.S386L | Missense | SNP | 0.215 | 3 | Gain | - |
| MAPK8 | - | - | - | - | 3 | Gain | - |
| MAPK8IP2 | p.R461* | Nonsense | SNP | 0.510 | 2 | - | - |
| MAPRE2 | p.A45V | Missense | SNP | 0.301 | 3 | Gain | - |
| MARCH5 | - | - | - | - | 4 | Gain | - |
| MARCH8 | - | - | - | - | 3 | Gain | - |
| MARCKS | p.A328Sfs*14 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
| MARVELD1 | - | - | - | - | 4 | Gain | - |
| MASP1 | p.S272N | Missense | SNP | 0.423 | 2 | - | - |
| MAST1 | p.G1280D | Missense | SNP | 0.528 | 2 | - | - |
| MASTL | - | - | - | - | 4 | Gain | - |
| MAT1A | - | - | - | - | 4 | Gain | - |
| MATN2 | - | - | - | - | 3 | Gain | - |
| MAZ | p.F14Lfs*34 | Frame_Shift_Ins | INS | 0.173 | 2 | - | - |
| MBD1 | - | - | - | - | 3 | Gain | - |
| MBD2 | - | - | - | - | 3 | Gain | - |
| MBL2 | - | - | - | - | 4 | Gain | - |
| MBOAT4 | - | - | - | - | 3 | Gain | - |
| MBP | - | - | - | - | 3 | Gain | - |
| MBTPS1 | p.G751R | Missense | SNP | 0.426 | 2 | - | - |
| MC2R | - | - | - | - | 3 | Gain | - |
| MC4R | - | - | - | - | 3 | Gain | - |
| MC5R | - | - | - | - | 3 | Gain | - |
| MCCC1 | p.A670V | Missense | SNP | 0.470 | 2 | - | - |
| MCHR2 | p.R140* | Nonsense | SNP | 0.608 | 2 | - | - |
| MCM10 | - | - | - | - | 4 | Gain | - |
| MCM3AP | p.R906C | Missense | SNP | 0.437 | 2 | - | - |
| MCM4 | p.T629Qfs*18 | Frame_Shift_Del | DEL | 0.347 | 3 | Gain | - |
| MCM5 | p.R114Q | Missense | SNP | 0.429 | 2 | - | - |
| MCMBP | - | - | - | - | 4 | Gain | - |
| MCMDC2 | - | - | - | - | 3 | Gain | - |
| MCPH1 | p.T468Pfs*32 | Frame_Shift_Del | DEL | 0.304 | 3 | Gain | - |
| MCTP1 | p.F877Ifs*4 | Frame_Shift_Ins | INS | 0.273 | 2 | - | - |
| MCU | - | - | - | - | 4 | Gain | - |
| MDH1B | p.V475I | Missense | SNP | 0.527 | 2 | - | - |
| MDN1 | p.E2692* | Frame_Shift_Ins | INS | 0.274 | 2 | - | - |
| ME2 | - | - | - | - | 3 | Gain | - |
| MED30 | - | - | - | - | 3 | Gain | - |
| MEIG1 | - | - | - | - | 4 | Gain | - |
| MEP1B | - | - | - | - | 3 | Gain | - |
| MEST | p.R167Q | Missense | SNP | 0.415 | 2 | - | - |
| METTL4 | - | - | - | - | 3 | Gain | - |
| METTL7A | p.R93M | Missense | SNP | 0.529 | 2 | - | - |
| METTL9 | p.L110M | Missense | SNP | 0.470 | 2 | - | - |
| MEX3B | p.Y55Rfs*21 | Frame_Shift_Del | DEL | 0.368 | 2 | - | - |
| MEX3C | - | - | - | - | 3 | Gain | - |
| MFHAS1 | - | - | - | - | 3 | Gain | - |
| MFSD1 | p.R58W | Missense | SNP | 0.444 | 2 | - | - |
| MFSD13A | - | - | - | - | 4 | Gain | - |
| MFSD3 | - | - | - | - | 3 | Gain | - |
| MFSD4B | p.C202Vfs*4 | Frame_Shift_Del | DEL | 0.389 | 2 | - | - |
| MGMT | - | - | - | - | 3 | Gain | - |
| MIB1 | - | - | - | - | 3 | Gain | - |
| MICAL1 | p.G115R | Missense | SNP | 0.450 | 2 | - | - |
| MICAL3 | p.R1405Gfs*33 | Frame_Shift_Del | DEL | 0.564 | 2 | - | - |
| MICALCL | p.S51Afs*49 p.R261Q | Frame_Shift_Del Missense | DEL SNP | 0.476 0.602 | ND | ND | - |
| MICU1 | - | - | - | - | 4 | Gain | - |
| MICU3 | - | - | - | - | 3 | Gain | - |
| MIER2 | p.D492N | Missense | SNP | 0.506 | 2 | - | - |
| MINDY3 | - | - | - | - | 4 | Gain | - |
| MINPP1 | - | - | - | - | 4 | Gain | - |
| MISP | p.G116R | Missense | SNP | 0.438 | 2 | - | - |
| MKI67 | p.D2147Qfs*29 | Frame_Shift_Ins | INS | 0.240 | 4 | Gain | - |
| MKX | - | - | - | - | 4 | Gain | - |
| MLC1 | p.L217M | Missense | SNP | 0.493 | 2 | - | - |
| MLLT10 | - | - | - | - | 4 | Gain | - |
| MLLT3 | p.R556C | Missense | SNP | 0.436 | 2 | - | - |
| MLXIP | p.R214C p.A498T | Missense Missense | SNP SNP | 0.516 0.607 | 2 | - | - |
| MMP16 | - | - | - | - | 3 | Gain | - |
| MMP21 | - | - | - | - | 4 | Gain | - |
| MMRN2 | - | - | - | - | 4 | Gain | - |
| MMS19 | - | - | - | - | 4 | Gain | - |
| MOCOS | - | - | - | - | 3 | Gain | - |
| MORN4 | - | - | - | - | 4 | Gain | - |
| MOS | - | - | - | - | 3 | Gain | - |
| MPP7 | - | - | - | - | 4 | Gain | - |
| MPPE1 | p.E83Gfs*40 | Frame_Shift_Ins | INS | 0.289 | 3 | Gain | - |
| MRC1 | - | - | - | - | 4 | Gain | - |
| MRGPRF | p.A97V | Missense | SNP | 0.484 | 2 | - | - |
| MRO | - | - | - | - | 3 | Gain | - |
| MROH1 | - | - | - | - | 3 | Gain | - |
| MROH5 | - | - | - | - | 3 | Gain | - |
| MROH6 | - | - | - | - | 3 | Gain | - |
| MROH8 | p.L976I | Missense | SNP | 0.444 | 2 | - | - |
| MRPL13 | - | - | - | - | 3 | Gain | - |
| MRPL15 | - | - | - | - | 3 | Gain | - |
| MRPL43 | - | - | - | - | 4 | Gain | - |
| MRPS16 | - | - | - | - | 4 | Gain | - |
| MRPS28 | - | - | - | - | 3 | Gain | - |
| MSC | - | - | - | - | 3 | Gain | - |
| MSMB | - | - | - | - | 3 | Gain | - |
| MSR1 | - | - | - | - | 3 | Gain | - |
| MSRA | - | - | - | - | 3 | Gain | - |
| MSRB2 | - | - | - | - | 4 | Gain | - |
| MSS51 | - | - | - | - | 4 | Gain | - |
| MST1R | p.V898M | Missense | SNP | 0.392 | 2 | - | - |
| MTA1 | p.R682C | Missense | SNP | 0.436 | 2 | - | - |
| MTBP | - | - | - | - | 3 | Gain | - |
| MTCL1 | - | - | - | - | 3 | Gain | - |
| MTDH | - | - | - | - | 3 | Gain | - |
| MTERF3 | - | - | - | - | 3 | Gain | - |
| MTFR1 | - | - | - | - | 3 | Gain | - |
| MTG1 | - | - | - | - | 3 | Gain | - |
| MTMR7 | - | - | - | - | 3 | Gain | - |
| MTMR9 | - | - | - | - | 3 | Gain | - |
| MTPAP | - | - | - | - | 4 | Gain | - |
| MTSS1 | - | - | - | - | 3 | Gain | - |
| MTSS1L | p.G560Afs*34 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
| MTUS1 | - | - | - | - | 3 | Gain | - |
| MUC16 | p.R12249H | Missense | SNP | 0.415 | 2 | - | - |
| MUC5AC | p.M5088I | Missense | SNP | 0.520 | 2 | - | - |
| MXI1 | - | - | - | - | 4 | Gain | - |
| MXRA8 | p.R301Gfs*107 | Frame_Shift_Del | DEL | 0.512 | 2 | - | - |
| MYADM | p.A189V | Missense | SNP | 0.511 | 2 | - | - |
| MYBL1 | - | - | - | - | 3 | Gain | - |
| MYC | - | - | - | - | 3 | Gain | - |
| MYCBP2 | p.G3497* | Nonsense | SNP | 0.293 | 2 | - | - |
| MYCN | p.A220D | Missense | SNP | 0.076 | 2 | - | - |
| MYEOV | p.W272Gfs*66 | Frame_Shift_Del | DEL | 0.536 | 2 | - | - |
| MYH10 | p.Q886R | Missense | SNP | 0.500 | 2 | - | - |
| MYH9 | p.L812I | Missense | SNP | 0.574 | 2 | - | - |
| MYL1 | p.E165D | Missense | SNP | 0.471 | 2 | - | - |
| MYL12A | - | - | - | - | 3 | Gain | - |
| MYL12B | - | - | - | - | 3 | Gain | - |
| MYL7 | p.Q79R | Missense | SNP | 0.410 | 2 | - | - |
| MYLK | p.P21H | Missense | SNP | 0.238 | 2 | - | - |
| MYO1G | p.R37C | Missense | SNP | 0.478 | 2 | - | - |
| MYO3A | - | - | - | - | 4 | Gain | - |
| MYO5A | p.A695T | Missense | SNP | 0.486 | 2 | - | - |
| MYO5B | - | - | - | - | 3 | Gain | - |
| MYO7B | p.P107L | Missense | SNP | 0.379 | 2 | - | - |
| MYOF | p.I1430V | Missense | SNP | 0.104 | 4 | Gain | - |
| MYOM1 | - | - | - | - | 3 | Gain | - |
| MYOM2 | - | - | - | - | 3 | Gain | - |
| MYOM3 | p.E1430K | Missense | SNP | 0.340 | 2 | - | - |
| MYOZ1 | - | - | - | - | 4 | Gain | - |
| MYPN | p.I891* | Frame_Shift_Del | DEL | 0.261 | 4 | Gain | - |
| MZT2B | - | - | - | - | 1 | Loss | - |
| NANOS1 | - | - | - | - | 4 | Gain | - |
| NAP1L5 | p.A32V | Missense | SNP | 0.388 | 2 | - | - |
| NAPG | - | - | - | - | 3 | Gain | - |
| NAPRT | - | - | - | - | 3 | Gain | - |
| NARS | p.V536M | Missense | SNP | 0.339 | 3 | Gain | - |
| NAT1 | - | - | - | - | 3 | Gain | - |
| NAT2 | - | - | - | - | 3 | Gain | - |
| NAV2 | p.P29Rfs*11 | Frame_Shift_Del | DEL | 0.254 | 2 | - | - |
| NBN | - | - | - | - | 3 | Gain | - |
| NCALD | - | - | - | - | 3 | Gain | - |
| NCKIPSD | p.F631del | In_Frame_Del | DEL | 0.542 | 2 | - | - |
| NCOA2 | p.V1419M | Missense | SNP | 0.281 | 3 | Gain | - |
| NCOA4 | - | - | - | - | 3 | Gain | - |
| NDC80 | p.T571M | Missense | SNP | 0.639 | 3 | Gain | - |
| NDRG1 | - | - | - | - | 3 | Gain | - |
| NDST2 | - | - | - | - | 4 | Gain | - |
| NDUFAF6 | - | - | - | - | 3 | Gain | - |
| NDUFB8 | - | - | - | - | 4 | Gain | - |
| NDUFB9 | - | - | - | - | 3 | Gain | - |
| NDUFS7 | p.A187T | Missense | SNP | 0.476 | 2 | - | - |
| NDUFV2 | - | - | - | - | 3 | Gain | - |
| NEBL | - | - | - | - | 4 | Gain | - |
| NECAB1 | - | - | - | - | 3 | Gain | - |
| NEDD4L | p.N156Mfs*51 | Frame_Shift_Del | DEL | 0.684 | 3 | Gain | - |
| NEFL | - | - | - | - | 3 | Gain | - |
| NEFM | - | - | - | - | 3 | Gain | - |
| NEIL2 | - | - | - | - | 3 | Gain | - |
| NEK1 | p.D1179Y | Missense | SNP | 0.489 | 2 | - | - |
| NEK4 | p.R743W | Missense | SNP | 0.498 | 2 | - | - |
| NET1 | - | - | - | - | 4 | Gain | - |
| NETO1 | - | - | - | - | 3 | Gain | - |
| NEURL1 | - | - | - | - | 4 | Gain | - |
| NEURL1B | p.R533Q | Missense | SNP | 0.531 | 2 | - | - |
| NEURL4 | p.L1256Cfs*12 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
| NEUROD6 | p.K83Rfs*35 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| NEUROG3 | - | - | - | - | 4 | Gain | - |
| NFATC1 | - | - | - | - | 3 | Gain | - |
| NFE2 | p.R300Q | Missense | SNP | 0.400 | 2 | - | - |
| NFKB2 | - | - | - | - | 4 | Gain | - |
| NHLRC2 | - | - | - | - | 4 | Gain | - |
| NHSL2 | p.S123L | Missense | SNP | 0.283 | ND | ND | - |
| NIPAL2 | - | - | - | - | 3 | Gain | - |
| NKAIN3 | - | - | - | - | 3 | Gain | - |
| NKX1-2 | - | - | - | - | 4 | Gain | - |
| NKX2-3 | - | - | - | - | 4 | Gain | - |
| NKX2-6 | - | - | - | - | 3 | Gain | - |
| NKX2-8 | p.Q116H | Missense | SNP | 0.408 | 2 | - | - |
| NKX3-1 | - | - | - | - | 3 | Gain | - |
| NKX6-2 | - | - | - | - | 3 | Gain | - |
| NKX6-3 | - | - | - | - | 3 | Gain | - |
| NLRC5 | p.R1500W | Missense | SNP | 0.443 | 2 | - | - |
| NLRP2 | p.R587Q | Missense | SNP | 0.483 | 2 | - | - |
| NLRP8 | p.E619G | Missense | SNP | 0.503 | 2 | - | - |
| NMT2 | - | - | - | - | 4 | Gain | - |
| NOC3L | - | - | - | - | 4 | Gain | - |
| NODAL | - | - | - | - | 4 | Gain | - |
| NOL4 | - | - | - | - | 3 | Gain | - |
| NOLC1 | - | - | - | - | 4 | Gain | - |
| NOTCH1 | p.Q462* | Nonsense | SNP | 0.492 | 2 | - | - |
| NOV | - | - | - | - | 3 | Gain | - |
| NOVA1 | p.K210N | Missense | SNP | 0.362 | 2 | - | - |
| NPBWR1 | - | - | - | - | 3 | Gain | - |
| NPBWR2 | p.R243Q | Missense | SNP | 0.440 | 2 | - | - |
| NPC1 | - | - | - | - | 3 | Gain | - |
| NPFFR1 | - | - | - | - | 4 | Gain | - |
| NPM2 | - | - | - | - | 3 | Gain | - |
| NPM3 | - | - | - | - | 4 | Gain | - |
| NPRL3 | p.Y531H | Missense | SNP | 0.462 | 2 | - | - |
| NPS | - | - | - | - | 4 | Gain | - |
| NPY4R | - | - | - | - | 3 | Gain | - |
| NPY4R2 | - | - | - | - | 3 | Gain | - |
| NR2F1 | p.N263D | Missense | SNP | 0.476 | 2 | - | - |
| NR3C2 | p.V618A | Missense | SNP | 0.418 | 2 | - | - |
| NRAP | - | - | - | - | 4 | Gain | - |
| NRBF2 | - | - | - | - | 4 | Gain | - |
| NRBP2 | - | - | - | - | 3 | Gain | - |
| NRG1 | p.E79* | Nonsense | SNP | 0.600 | 3 | Gain | - |
| NRG3 | - | - | - | - | 4 | Gain | - |
| NRK | p.Q410H p.Q809R | Missense Missense | SNP SNP | 0.422 0.480 | ND | ND | - |
| NRP1 | - | - | - | - | 4 | Gain | - |
| NSD1 | p.M1531Cfs*43 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
| NSD3 | - | - | - | - | 3 | Gain | - |
| NSMAF | - | - | - | - | 3 | Gain | - |
| NSMCE2 | - | - | - | - | 3 | Gain | - |
| NSMCE4A | - | - | - | - | 4 | Gain | - |
| NSUN6 | - | - | - | - | 4 | Gain | - |
| NT5C2 | - | - | - | - | 4 | Gain | - |
| NTNG2 | p.G144S | Missense | SNP | 0.510 | 2 | - | - |
| NTRK1 | p.R347H | Missense | SNP | 0.549 | 2 | - | - |
| NUDCD1 | - | - | - | - | 3 | Gain | - |
| NUDT13 | - | - | - | - | 4 | Gain | - |
| NUDT18 | - | - | - | - | 3 | Gain | - |
| NUDT5 | - | - | - | - | 4 | Gain | - |
| NUGGC | - | - | - | - | 3 | Gain | - |
| NUP133 | p.K968del | In_Frame_Del | DEL | 0.447 | 2 | - | - |
| NXPH4 | p.G210Afs*166 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| OAT | - | - | - | - | 4 | Gain | - |
| OBSCN | p.G2909E | Missense | SNP | 0.580 | 2 | - | - |
| OC90 | - | - | - | - | 3 | Gain | - |
| ODF1 | - | - | - | - | 3 | Gain | - |
| OGA | - | - | - | - | 4 | Gain | - |
| OGDHL | p.R758W | Missense | SNP | 0.244 | 4 | Gain | - |
| OIT3 | - | - | - | - | 4 | Gain | - |
| OLAH | - | - | - | - | 4 | Gain | - |
| ONECUT2 | - | - | - | - | 3 | Gain | - |
| OPALIN | - | - | - | - | 4 | Gain | - |
| OPLAH | - | - | - | - | 3 | Gain | - |
| OPN4 | - | - | - | - | 4 | Gain | - |
| OPRK1 | - | - | - | - | 3 | Gain | - |
| OPTN | - | - | - | - | 4 | Gain | - |
| OR13A1 | - | - | - | - | 3 | Gain | - |
| OR13C3 | p.A149T | Missense | SNP | 0.475 | 2 | - | - |
| OR13H1 | p.R298W | Missense | SNP | 0.483 | ND | ND | - |
| OR1A2 | p.R122* | Nonsense | SNP | 0.538 | 2 | - | - |
| OR1S2 | p.I26T | Missense | SNP | 0.438 | 2 | - | - |
| OR2J2 | p.N6Mfs*21 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
| OR4C12 | p.R258C | Missense | SNP | 0.474 | 2 | - | - |
| OR4D6 | p.T241M | Missense | SNP | 0.500 | 2 | - | - |
| OR4D9 | p.S116C | Missense | SNP | 0.427 | 2 | - | - |
| OR51B5 | p.M63I | Missense | SNP | 0.532 | 2 | - | - |
| OR6C75 | p.R221W | Missense | SNP | 0.445 | 2 | - | - |
| OR6N1 | p.R165C | Missense | SNP | 0.528 | 2 | - | - |
| OR7G2 | p.Y280H | Missense | SNP | 0.484 | 2 | - | - |
| OR8K3 | p.F311Lfs*? | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
| OSBPL1A | - | - | - | - | 3 | Gain | - |
| OSGIN2 | - | - | - | - | 3 | Gain | - |
| OSR2 | - | - | - | - | 3 | Gain | - |
| OTUD1 | - | - | - | - | 4 | Gain | - |
| OTUD6B | - | - | - | - | 3 | Gain | - |
| OXR1 | - | - | - | - | 3 | Gain | - |
| P2RX5 | p.Y338C | Missense | SNP | 0.533 | 2 | - | - |
| P2RX6 | p.G63Afs*39 | Frame_Shift_Del | DEL | 0.357 | 2 | - | - |
| P3H2 | p.K430Sfs*6 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
| P4HA1 | - | - | - | - | 4 | Gain | - |
| P4HTM | p.L416Cfs*6 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
| PABPC1 | - | - | - | - | 3 | Gain | - |
| PAG1 | - | - | - | - | 3 | Gain | - |
| PALD1 | - | - | - | - | 4 | Gain | - |
| PANK1 | - | - | - | - | 4 | Gain | - |
| PAOX | - | - | - | - | 3 | Gain | - |
| PAPSS2 | - | - | - | - | 4 | Gain | - |
| PARD3 | - | - | - | - | 4 | Gain | - |
| PARD3B | p.R932G | Missense | SNP | 0.469 | 2 | - | - |
| PARD6G | - | - | - | - | 3 | Gain | - |
| PARG | - | - | - | - | 4 | Gain | - |
| PARP10 | - | - | - | - | 3 | Gain | - |
| PAX2 | - | - | - | - | 4 | Gain | - |
| PAX7 | p.A259V | Missense | SNP | 0.447 | 2 | - | - |
| PBK | - | - | - | - | 3 | Gain | - |
| PBLD | - | - | - | - | 4 | Gain | - |
| PBX1 | p.G124R | Missense | SNP | 0.389 | 2 | - | - |
| PC | p.R453Q | Missense | SNP | 0.403 | 2 | - | - |
| PCBD1 | - | - | - | - | 4 | Gain | - |
| PCDH12 | p.L685Yfs*7 | Frame_Shift_Del | DEL | 0.428 | 2 | - | - |
| PCDH15 | - | - | - | - | 4 | Gain | - |
| PCDHA6 | p.R428W | Missense | SNP | 0.392 | 2 | - | - |
| PCDHB1 | p.P147T | Missense | SNP | 0.319 | 2 | - | - |
| PCDHB16 | p.I142Yfs*7 | Frame_Shift_Del | DEL | 0.377 | 2 | - | - |
| PCDHGA3 | p.A578V | Missense | SNP | 0.475 | 2 | - | - |
| PCGF5 | - | - | - | - | 4 | Gain | - |
| PCGF6 | - | - | - | - | 4 | Gain | - |
| PCK1 | p.I612Rfs*5 | Frame_Shift_Ins | INS | 0.310 | 2 | - | - |
| PCLO | p.L2443Vfs*15 p.S3436G p.S1052L | Frame_Shift_Ins Missense Missense | INS SNP SNP | 0.294 0.453 0.454 | 2 | - | - |
| PCM1 | - | - | - | - | 3 | Gain | - |
| PCMTD1 | - | - | - | - | 3 | Gain | - |
| PCNX1 | p.E466K | Missense | SNP | 0.457 | 2 | - | - |
| PCSK1N | p.A31Rfs*7 | Frame_Shift_Del | DEL | 0.387 | ND | ND | - |
| PCSK9 | p.R93H | Missense | SNP | 0.484 | 2 | - | - |
| PCYOX1 | p.R484C | Missense | SNP | 0.497 | 2 | - | - |
| PDCD11 | - | - | - | - | 4 | Gain | - |
| PDCD4 | - | - | - | - | 4 | Gain | - |
| PDE5A | p.H617Y | Missense | SNP | 0.422 | 2 | - | - |
| PDE6C | - | - | - | - | 4 | Gain | - |
| PDE7A | - | - | - | - | 3 | Gain | - |
| PDGFRL | - | - | - | - | 3 | Gain | - |
| PDLIM1 | - | - | - | - | 4 | Gain | - |
| PDLIM2 | - | - | - | - | 3 | Gain | - |
| PDLIM4 | p.R16H | Missense | SNP | 0.375 | 2 | - | - |
| PDP1 | - | - | - | - | 3 | Gain | - |
| PDSS1 | - | - | - | - | 4 | Gain | - |
| PDX1 | p.S231P | Missense | SNP | 0.233 | 2 | - | - |
| PDZD2 | p.K104Qfs*38 | Frame_Shift_Ins | INS | 0.307 | 2 | - | - |
| PDZD3 | p.G92* | Nonsense | SNP | 0.400 | 2 | - | - |
| PDZD7 | - | - | - | - | 4 | Gain | - |
| PDZD8 | - | - | - | - | 4 | Gain | - |
| PEBP4 | - | - | - | - | 3 | Gain | - |
| PEG3 | p.S403L | Missense | SNP | 0.510 | 2 | - | - |
| PENK | - | - | - | - | 3 | Gain | - |
| PER2 | p.A1049T p.V368M | Missense Missense | SNP SNP | 0.506 0.479 | 2 | - | - |
| PEX2 | - | - | - | - | 3 | Gain | - |
| PEX5 | p.R241W | Missense | SNP | 0.125 | 2 | - | - |
| PFKFB3 | - | - | - | - | 4 | Gain | - |
| PFKP | p.R265Gfs*2 p.I320V | Frame_Shift_Del Missense | DEL SNP | 0.199 0.703 | 4 | Gain | - |
| PGAM1 | - | - | - | - | 4 | Gain | - |
| PGAP2 | p.R314* | Nonsense | SNP | 0.429 | 2 | - | - |
| PHF13 | p.A145T | Missense | SNP | 0.485 | 2 | - | - |
| PHF20L1 | - | - | - | - | 3 | Gain | - |
| PHF21A | p.P652Lfs*104 | Frame_Shift_Del | DEL | 0.550 | 2 | - | - |
| PHKG2 | p.R71W | Missense | SNP | 0.509 | 2 | - | - |
| PHLPP1 | - | - | - | - | 3 | Gain | - |
| PHYH | - | - | - | - | 4 | Gain | - |
| PHYHIP | - | - | - | - | 3 | Gain | - |
| PHYHIPL | - | - | - | - | 4 | Gain | - |
| PI15 | - | - | - | - | 3 | Gain | - |
| PI4K2A | - | - | - | - | 4 | Gain | - |
| PIAS2 | - | - | - | - | 3 | Gain | - |
| PIEZO2 | - | - | - | - | 3 | Gain | - |
| PIGN | - | - | - | - | 3 | Gain | - |
| PIK3AP1 | - | - | - | - | 4 | Gain | - |
| PIK3C3 | - | - | - | - | 3 | Gain | - |
| PIK3CD | p.C355Y | Missense | SNP | 0.379 | 2 | - | - |
| PIK3R4 | p.V448I | Missense | SNP | 0.474 | 2 | - | - |
| PINX1 | - | - | - | - | 3 | Gain | - |
| PIP4K2A | - | - | - | - | 4 | Gain | - |
| PIP4P2 | - | - | - | - | 3 | Gain | - |
| PIP5KL1 | p.R9Afs*47 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| PITRM1 | - | - | - | - | 4 | Gain | - |
| PITX3 | - | - | - | - | 4 | Gain | - |
| PIWIL2 | - | - | - | - | 3 | Gain | - |
| PIWIL3 | p.R256H | Missense | SNP | 0.463 | 2 | - | - |
| PKD2L1 | - | - | - | - | 4 | Gain | - |
| PKHD1L1 | - | - | - | - | 3 | Gain | - |
| PKIA | - | - | - | - | 3 | Gain | - |
| PKN2 | p.E854D | Missense | SNP | 0.426 | 2 | - | - |
| PLA2G12B | - | - | - | - | 4 | Gain | - |
| PLAC9 | - | - | - | - | 4 | Gain | - |
| PLAG1 | - | - | - | - | 3 | Gain | - |
| PLAT | p.T46M | Missense | SNP | 0.642 | 3 | Gain | - |
| PLAU | - | - | - | - | 4 | Gain | - |
| PLCE1 | - | - | - | - | 4 | Gain | - |
| PLD3 | p.A402V | Missense | SNP | 0.475 | 2 | - | - |
| PLD5 | p.V376I | Missense | SNP | 0.455 | 2 | - | - |
| PLEC | p.T3608M p.E2305* p.R609H | Missense Nonsense Missense | SNP SNP SNP | 0.578 0.311 0.273 | 3 | Gain | - |
| PLEKHA1 | - | - | - | - | 4 | Gain | - |
| PLEKHA2 | - | - | - | - | 3 | Gain | - |
| PLEKHF2 | - | - | - | - | 3 | Gain | - |
| PLEKHO1 | p.Q256Rfs*6 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
| PLEKHS1 | - | - | - | - | 4 | Gain | - |
| PLPBP | - | - | - | - | 3 | Gain | - |
| PLPP4 | - | - | - | - | 4 | Gain | - |
| PLPP5 | - | - | - | - | 3 | Gain | - |
| PLXDC2 | - | - | - | - | 4 | Gain | - |
| PLXNA1 | p.T508M p.D1478N | Missense Missense | SNP SNP | 0.478 0.544 | 2 | - | - |
| PMAIP1 | - | - | - | - | 3 | Gain | - |
| PML | p.E27Rfs*71 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
| PMP2 | - | - | - | - | 3 | Gain | - |
| PMS2 | p.R199C | Missense | SNP | 0.466 | 2 | - | - |
| PNISR | p.R697Gfs*15 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| PNLIP | - | - | - | - | 4 | Gain | - |
| PNLIPRP1 | - | - | - | - | 4 | Gain | - |
| PNLIPRP2 | - | - | - | - | 4 | Gain | - |
| PNLIPRP3 | - | - | - | - | 4 | Gain | - |
| PNMA2 | - | - | - | - | 3 | Gain | - |
| PNOC | - | - | - | - | 3 | Gain | - |
| PNPLA2 | p.A432T | Missense | SNP | 0.524 | 2 | - | - |
| POLB | - | - | - | - | 3 | Gain | - |
| POLI | - | - | - | - | 3 | Gain | - |
| POLL | - | - | - | - | 4 | Gain | - |
| POLR2J | - | - | - | - | 1 | Loss | - |
| POLR2J2 | - | - | - | - | 1 | Loss | - |
| POLR2J3 | - | - | - | - | 1 | Loss | - |
| POLR2K | - | - | - | - | 3 | Gain | - |
| POLR3A | - | - | - | - | 4 | Gain | - |
| POLR3D | - | - | - | - | 3 | Gain | - |
| POMK | - | - | - | - | 3 | Gain | - |
| POP1 | - | - | - | - | 3 | Gain | - |
| POTEC | - | - | - | - | 3 | Gain | - |
| POU2F2 | p.S577G | Missense | SNP | 0.434 | 2 | - | - |
| POU5F1B | - | - | - | - | 3 | Gain | - |
| PPA1 | - | - | - | - | 4 | Gain | - |
| PPDPF | p.R55Afs*59 | Frame_Shift_Del | DEL | 0.585 | 2 | - | - |
| PPDPFL | - | - | - | - | 3 | Gain | - |
| PPFIA2 | p.R50W | Missense | SNP | 0.455 | 2 | - | - |
| PPHLN1 | p.E370G | Missense | SNP | 0.619 | 2 | - | - |
| PPIF | - | - | - | - | 4 | Gain | - |
| PPIL1 | p.R72* | Nonsense | SNP | 0.608 | 2 | - | - |
| PPL | p.R419Q | Missense | SNP | 0.390 | 2 | - | - |
| PPP1R12C | p.I373Sfs*51 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
| PPP1R16A | - | - | - | - | 3 | Gain | - |
| PPP1R3B | - | - | - | - | 3 | Gain | - |
| PPP1R3C | - | - | - | - | 4 | Gain | - |
| PPP1R42 | - | - | - | - | 3 | Gain | - |
| PPP2CB | - | - | - | - | 3 | Gain | - |
| PPP2R1A | p.T524M | Missense | SNP | 0.371 | 2 | - | - |
| PPP2R2A | - | - | - | - | 3 | Gain | - |
| PPP2R2D | - | - | - | - | 3 | Gain | - |
| PPP3CB | - | - | - | - | 4 | Gain | - |
| PPP3CC | - | - | - | - | 3 | Gain | - |
| PPP4R1 | - | - | - | - | 3 | Gain | - |
| PPRC1 | - | - | - | - | 4 | Gain | - |
| PQLC1 | - | - | - | - | 3 | Gain | - |
| PRAG1 | - | - | - | - | 3 | Gain | - |
| PRAP1 | - | - | - | - | 3 | Gain | - |
| PRDM14 | - | - | - | - | 3 | Gain | - |
| PRDX3 | - | - | - | - | 4 | Gain | - |
| PRDX4 | p.R171Efs*6 | Frame_Shift_Del | DEL | 0.473 | ND | ND | - |
| PRELID3A | - | - | - | - | 3 | Gain | - |
| PRELP | p.N334Qfs*8 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
| PREX2 | - | - | - | - | 3 | Gain | - |
| PRF1 | - | - | - | - | 4 | Gain | - |
| PRG4 | p.T367I | Missense | SNP | 0.533 | 2 | - | - |
| PRICKLE3 | p.Q533R | Missense | SNP | 0.495 | ND | ND | - |
| PRKCQ | p.R703W | Missense | SNP | 0.258 | 4 | Gain | - |
| PRKDC | - | - | - | - | 3 | Gain | - |
| PRKG1 | p.R297K | Missense | SNP | 0.213 | 4 | Gain | - |
| PRLHR | p.R270H | Missense | SNP | 0.372 | 4 | Gain | - |
| PRMT2 | p.A23V | Missense | SNP | 0.448 | 2 | - | - |
| PROM2 | p.E728Vfs*17 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
| PROSC | p.Q71H | Missense | SNP | 0.624 | ND | ND | - |
| PROSER2 | - | - | - | - | 4 | Gain | - |
| PRPF18 | - | - | - | - | 4 | Gain | - |
| PRPF40B | p.P40L p.R491* | Missense Nonsense | SNP SNP | 0.492 0.417 | 2 | - | - |
| PRPF8 | p.R49W | Missense | SNP | 0.527 | 2 | - | - |
| PRR12 | p.F1281L | Missense | SNP | 0.533 | 2 | - | - |
| PRR14L | p.F1767del | In_Frame_Del | DEL | 0.361 | 2 | - | - |
| PRR23D1 | - | - | - | - | 3 | Gain | - |
| PRR23D2 | - | - | - | - | 3 | Gain | - |
| PRR26 | - | - | - | - | 4 | Gain | - |
| PRR35 | p.A246Gfs*88 | Frame_Shift_Ins | INS | 0.222 | 2 | - | - |
| PRSS55 | - | - | - | - | 3 | Gain | - |
| PRTFDC1 | - | - | - | - | 4 | Gain | - |
| PRXL2A | - | - | - | - | 4 | Gain | - |
| PSAP | - | - | - | - | 4 | Gain | - |
| PSCA | - | - | - | - | 3 | Gain | - |
| PSD | - | - | - | - | 4 | Gain | - |
| PSD3 | - | - | - | - | 3 | Gain | - |
| PSEN1 | p.S178Hfs*24 | Frame_Shift_Del | DEL | 0.567 | 2 | - | PSEN1--AC124312.3 |
| PSG2 | p.A263V | Missense | SNP | 0.488 | 2 | - | - |
| PSKH2 | - | - | - | - | 3 | Gain | - |
| PSMA8 | - | - | - | - | 3 | Gain | - |
| PSMC2 | p.A269Sfs*7 | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
| PSMC5 | p.E396G | Missense | SNP | 0.506 | 2 | - | - |
| PSMD1 | p.K124Nfs*11 | Frame_Shift_Del | DEL | 0.376 | 2 | - | - |
| PSMG2 | - | - | - | - | 3 | Gain | - |
| PSTK | - | - | - | - | 4 | Gain | - |
| PSTPIP2 | - | - | - | - | 3 | Gain | - |
| PTCHD3 | p.A235V | Missense | SNP | 0.236 | 4 | Gain | - |
| PTDSS1 | - | - | - | - | 3 | Gain | - |
| PTEN | - | - | - | - | 4 | Gain | - |
| PTER | - | - | - | - | 4 | Gain | - |
| PTF1A | - | - | - | - | 4 | Gain | - |
| PTK2 | - | - | - | - | 3 | Gain | - |
| PTK2B | - | - | - | - | 3 | Gain | - |
| PTN | p.V42* | Frame_Shift_Del | DEL | 0.625 | 2 | - | - |
| PTOV1 | p.*417Sfs*14 | Frame_Shift_Del | DEL | 0.311 | 2 | - | - |
| PTP4A3 | - | - | - | - | 3 | Gain | - |
| PTPN2 | - | - | - | - | 3 | Gain | - |
| PTPN20 | - | - | - | - | 3 | Gain | - |
| PTPRD | p.V1848I p.R401W | Missense Missense | SNP SNP | 0.602 0.459 | 2 | - | - |
| PTPRE | - | - | - | - | 4 | Gain | - |
| PTPRM | p.R226* | Nonsense | SNP | 0.310 | 3 | Gain | - |
| PTPRT | p.P372L | Missense | SNP | 0.508 | 2 | - | - |
| PUF60 | - | - | - | - | 3 | Gain | - |
| PUM1 | p.R922Q | Missense | SNP | 0.529 | 2 | - | - |
| PURG | - | - | - | - | 3 | Gain | - |
| PWWP2B | - | - | - | - | 3 | Gain | - |
| PXDNL | - | - | - | - | 3 | Gain | - |
| PYCR3 | - | - | - | - | 3 | Gain | - |
| PYROXD2 | - | - | - | - | 4 | Gain | - |
| QKI | p.A273V | Missense | SNP | 0.421 | 2 | - | - |
| QSER1 | p.N1697Mfs*4 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| R3HCC1 | - | - | - | - | 3 | Gain | - |
| R3HCC1L | - | - | - | - | 4 | Gain | - |
| RAB11FIP1 | - | - | - | - | 3 | Gain | - |
| RAB11FIP2 | - | - | - | - | 4 | Gain | - |
| RAB11FIP4 | p.T257M | Missense | SNP | 0.441 | 2 | - | - |
| RAB12 | - | - | - | - | 3 | Gain | - |
| RAB18 | p.P4S | Missense | SNP | 0.286 | 4 | Gain | - |
| RAB27B | - | - | - | - | 3 | Gain | - |
| RAB2A | - | - | - | - | 3 | Gain | - |
| RAB31 | - | - | - | - | 3 | Gain | - |
| RAB40C | p.K261N | Missense | SNP | 0.455 | 2 | - | - |
| RAB4B | p.R129W | Missense | SNP | 0.432 | 2 | - | - |
| RAD21 | - | - | - | - | 3 | Gain | - |
| RAD54B | - | - | - | - | 3 | Gain | - |
| RADIL | p.V165M | Missense | SNP | 0.645 | 2 | - | - |
| RAI2 | p.V474M | Missense | SNP | 0.433 | ND | ND | - |
| RALBP1 | - | - | - | - | 3 | Gain | - |
| RALGAPB | p.F971Sfs*53 | Frame_Shift_Del | DEL | 0.592 | 2 | - | - |
| RALYL | - | - | - | - | 3 | Gain | - |
| RANBP3 | p.T292M | Missense | SNP | 0.462 | 2 | - | - |
| RANGAP1 | p.G21Dfs*3 | Frame_Shift_Del | DEL | 0.565 | 2 | - | - |
| RAPGEF4 | p.E389Kfs*10 | Frame_Shift_Del | DEL | 0.265 | 2 | - | - |
| RASA4 | - | - | - | - | 1 | Loss | - |
| RASA4B | - | - | - | - | 1 | Loss | - |
| RASAL3 | p.R39H | Missense | SNP | 0.538 | 2 | - | - |
| RASGEF1A | - | - | - | - | 3 | Gain | - |
| RASGRP3 | p.R549Q | Missense | SNP | 0.461 | 2 | - | - |
| RASL11B | p.R109C | Missense | SNP | 0.516 | 2 | - | - |
| RASSF4 | - | - | - | - | 3 | Gain | - |
| RAX | - | - | - | - | 3 | Gain | - |
| RB1CC1 | - | - | - | - | 3 | Gain | - |
| RBBP8 | - | - | - | - | 3 | Gain | - |
| RBFA | - | - | - | - | 3 | Gain | - |
| RBM10 | p.R960W | Missense | SNP | 0.350 | ND | ND | - |
| RBM12B | - | - | - | - | 3 | Gain | - |
| RBM14 | p.F191Lfs*40 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
| RBM17 | - | - | - | - | 4 | Gain | - |
| RBM20 | p.R1057Q | Missense | SNP | 0.698 | 4 | Gain | - |
| RBM27 | p.K816Nfs*5 | Frame_Shift_Del | DEL | 0.493 | 2 | - | - |
| RBM43 | p.I136Sfs*4 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| RBM46 | p.R266W | Missense | SNP | 0.515 | 2 | - | - |
| RBM47 | p.G112S | Missense | SNP | 0.489 | 2 | - | - |
| RBM48 | p.P217H | Missense | SNP | 0.421 | 2 | - | - |
| RBM4B | p.P154Lfs*24 | Frame_Shift_Del | DEL | 0.412 | 2 | - | - |
| RBP3 | - | - | - | - | 3 | Gain | - |
| RBP4 | - | - | - | - | 4 | Gain | - |
| RBPMS | - | - | - | - | 3 | Gain | - |
| RCAN3 | p.A151S | Missense | SNP | 0.397 | 2 | - | - |
| RCC1 | p.R33H | Missense | SNP | 0.462 | 2 | - | - |
| RDH10 | . | Missense | DEL | 0.508 | 3 | Gain | - |
| RECQL4 | - | - | - | - | 3 | Gain | - |
| REEP3 | - | - | - | - | 4 | Gain | - |
| REEP4 | - | - | - | - | 3 | Gain | - |
| RELA | p.H487Pfs*4 | Frame_Shift_Ins | INS | 0.278 | 2 | - | - |
| RELCH | - | - | - | - | 3 | Gain | - |
| RERE | p.P940L | Missense | SNP | 0.706 | 2 | - | - |
| RET | - | - | - | - | 3 | Gain | - |
| RETSAT | p.A586T | Missense | SNP | 0.427 | 2 | - | - |
| RGR | - | - | - | - | 4 | Gain | - |
| RGS10 | - | - | - | - | 4 | Gain | - |
| RGS12 | p.P1357L | Missense | SNP | 0.590 | 2 | - | - |
| RGS20 | - | - | - | - | 3 | Gain | - |
| RGS22 | - | - | - | - | 3 | Gain | - |
| RHOBTB1 | - | - | - | - | 4 | Gain | - |
| RHOBTB2 | - | - | - | - | 3 | Gain | - |
| RHOXF1 | p.D174Tfs*22 | Frame_Shift_Del | DEL | 0.403 | ND | ND | - |
| RHPN1 | - | - | - | - | 3 | Gain | - |
| RIDA | - | - | - | - | 3 | Gain | - |
| RIMS2 | - | - | - | - | 3 | Gain | - |
| RINT1 | p.P247Lfs*8 | Frame_Shift_Del | DEL | 0.407 | 2 | - | - |
| RIOK3 | - | - | - | - | 3 | Gain | - |
| RIPK2 | - | - | - | - | 3 | Gain | - |
| RIPK4 | p.A147T | Missense | SNP | 0.500 | 2 | - | - |
| RIT2 | - | - | - | - | 3 | Gain | - |
| RLF | p.R721* | Nonsense | SNP | 0.404 | 2 | - | - |
| RMC1 | - | - | - | - | 3 | Gain | - |
| RMDN1 | - | - | - | - | 3 | Gain | - |
| RNF113B | p.G104V | Missense | SNP | 0.461 | 2 | - | - |
| RNF121 | p.R194W | Missense | SNP | 0.450 | 2 | - | - |
| RNF122 | - | - | - | - | 3 | Gain | - |
| RNF125 | - | - | - | - | 3 | Gain | - |
| RNF128 | p.R6M | Missense | SNP | 0.476 | ND | ND | - |
| RNF138 | - | - | - | - | 3 | Gain | - |
| RNF139 | - | - | - | - | 3 | Gain | - |
| RNF152 | - | - | - | - | 3 | Gain | - |
| RNF165 | - | - | - | - | 3 | Gain | - |
| RNF170 | - | - | - | - | 3 | Gain | - |
| RNF19A | - | - | - | - | 3 | Gain | - |
| RNF20 | p.R244H | Missense | SNP | 0.464 | 2 | - | - |
| RNLS | - | - | - | - | 4 | Gain | - |
| RNMT | - | - | - | - | 3 | Gain | - |
| ROBO2 | p.L601P | Missense | SNP | 0.414 | 2 | - | - |
| ROCK1 | - | - | - | - | 3 | Gain | - |
| ROS1 | p.V2276A p.G1915R | Missense Missense | SNP SNP | 0.518 0.565 | 2 | - | - |
| RP1 | - | - | - | - | 3 | Gain | - |
| RP11-310K10.1 | p.A353T | Missense | SNP | 0.456 | ND | ND | - |
| RP1L1 | - | - | - | - | 3 | Gain | - |
| RPEL1 | - | - | - | - | 4 | Gain | - |
| RPL17 | - | - | - | - | 3 | Gain | - |
| RPL17-C18orf32 | - | - | - | - | 3 | Gain | - |
| RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
| RPL30 | - | - | - | - | 3 | Gain | - |
| RPL3L | p.A75V | Missense | SNP | 0.484 | 2 | - | - |
| RPL7 | - | - | - | - | 3 | Gain | - |
| RPL7A | p.K11del | In_Frame_Del | DEL | 0.563 | 2 | - | - |
| RPL8 | - | - | - | - | 3 | Gain | - |
| RPP30 | - | - | - | - | 4 | Gain | - |
| RPP38 | - | - | - | - | 4 | Gain | - |
| RPRD1A | - | - | - | - | 3 | Gain | - |
| RPS20 | - | - | - | - | 3 | Gain | - |
| RPS24 | - | - | - | - | 4 | Gain | - |
| RPUSD4 | p.R235W | Missense | SNP | 0.497 | 2 | - | - |
| RREB1 | p.S600N | Missense | SNP | 0.524 | 2 | - | - |
| RRM2B | - | - | - | - | 3 | Gain | - |
| RRP12 | - | - | - | - | 4 | Gain | - |
| RRS1 | - | - | - | - | 3 | Gain | - |
| RSPO2 | - | - | - | - | 3 | Gain | - |
| RSU1 | - | - | - | - | 4 | Gain | - |
| RTCA | p.T334M | Missense | SNP | 0.434 | 2 | - | - |
| RTF1 | p.R333* | Nonsense | SNP | 0.402 | 2 | - | - |
| RTKN2 | - | - | - | - | 4 | Gain | - |
| RTTN | - | - | - | - | 3 | Gain | - |
| RUFY2 | - | - | - | - | 4 | Gain | - |
| RUNX1T1 | - | - | - | - | 3 | Gain | - |
| SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
| SALL3 | p.T658M | Missense | SNP | 0.605 | 3 | Gain | - |
| SAMD12 | - | - | - | - | 3 | Gain | - |
| SAMD8 | - | - | - | - | 4 | Gain | - |
| SAR1A | - | - | - | - | 4 | Gain | - |
| SARAF | - | - | - | - | 3 | Gain | - |
| SBSPON | - | - | - | - | 3 | Gain | - |
| SCAF1 | p.T1181Pfs*28 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
| SCARA3 | - | - | - | - | 3 | Gain | - |
| SCARA5 | - | - | - | - | 3 | Gain | - |
| SCART1 | - | - | - | - | 3 | Gain | - |
| SCD | - | - | - | - | 4 | Gain | - |
| SCN8A | p.W942C | Missense | SNP | 0.429 | 2 | - | - |
| SCRIB | p.F1211L | Missense | SNP | 0.397 | 3 | Gain | - |
| SCRT1 | - | - | - | - | 3 | Gain | - |
| SCX | - | - | - | - | 3 | Gain | - |
| SDC2 | - | - | - | - | 3 | Gain | - |
| SDCBP | - | - | - | - | 3 | Gain | - |
| SDK1 | p.R140C | Missense | SNP | 0.468 | 2 | - | - |
| SDR16C5 | - | - | - | - | 3 | Gain | - |
| SEC11C | - | - | - | - | 3 | Gain | - |
| SEC14L5 | p.A349V | Missense | SNP | 0.468 | 2 | - | - |
| SEC16B | p.V643M | Missense | SNP | 0.420 | 2 | - | - |
| SEC23IP | - | - | - | - | 4 | Gain | - |
| SEC24C | - | - | - | - | 4 | Gain | - |
| SEC31B | - | - | - | - | 4 | Gain | - |
| SEC61A2 | - | - | - | - | 4 | Gain | - |
| SEH1L | - | - | - | - | 3 | Gain | - |
| SELP | p.V501I | Missense | SNP | 0.292 | 2 | - | - |
| SEMA4G | - | - | - | - | 4 | Gain | - |
| SEMA5B | p.P325L | Missense | SNP | 0.404 | 2 | - | - |
| SEMG1 | p.A241V | Missense | SNP | 0.433 | 2 | - | - |
| SENP6 | p.R1072* | Nonsense | SNP | 0.373 | 2 | - | - |
| SENP7 | p.K545Nfs*11 | Frame_Shift_Del | DEL | 0.568 | 2 | - | - |
| SEPHS1 | - | - | - | - | 4 | Gain | - |
| SERAC1 | p.V8I | Missense | SNP | 0.454 | 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 | - |
| SETBP1 | - | - | - | - | 3 | Gain | - |
| SETD1B | p.H8Tfs*27 p.S291N | Frame_Shift_Del Missense | DEL SNP | 0.414 0.497 | 2 | - | - |
| SETD5 | p.S1286Lfs*37 | Frame_Shift_Ins | INS | 0.283 | 2 | - | - |
| SEZ6L2 | p.T77M | Missense | SNP | 0.412 | 2 | - | - |
| SFMBT2 | - | - | - | - | 4 | Gain | - |
| SFR1 | - | - | - | - | 4 | Gain | - |
| SFRP1 | - | - | - | - | 3 | Gain | - |
| SFRP5 | - | - | - | - | 4 | Gain | - |
| SFTPA1 | - | - | - | - | 4 | Gain | - |
| SFTPA2 | - | - | - | - | 4 | Gain | - |
| SFTPC | - | - | - | - | 3 | Gain | - |
| SFTPD | - | - | - | - | 4 | Gain | - |
| SFXN2 | p.D75G | Missense | SNP | 0.230 | 4 | Gain | - |
| SFXN3 | - | - | - | - | 4 | Gain | - |
| SFXN4 | - | - | - | - | 4 | Gain | - |
| SGCZ | - | - | - | - | 3 | Gain | - |
| SGK3 | - | - | - | - | 3 | Gain | - |
| SGMS1 | - | - | - | - | 4 | Gain | - |
| SGO1 | p.R522Efs*39 p.M325Cfs*28 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.343 0.400 | 2 | - | - |
| SGPL1 | - | - | - | - | 4 | Gain | - |
| SH2D4A | - | - | - | - | 3 | Gain | - |
| SH2D4B | - | - | - | - | 4 | Gain | - |
| SH3PXD2A | - | - | - | - | 4 | Gain | - |
| SHARPIN | - | - | - | - | 3 | Gain | - |
| SHC2 | p.P407Rfs*37 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
| SHISA7 | p.G359Afs*178 | Frame_Shift_Del | DEL | 0.576 | 2 | - | - |
| SHLD2 | - | - | - | - | 4 | Gain | - |
| SHOC2 | - | - | - | - | 4 | Gain | - |
| SHROOM2 | p.R753Q | Missense | SNP | 0.480 | ND | ND | - |
| SHROOM4 | p.K1314Rfs*23 p.R242C | Frame_Shift_Del Missense | DEL SNP | 0.414 0.456 | ND | ND | - |
| SHTN1 | - | - | - | - | 4 | Gain | - |
| SIGLEC15 | - | - | - | - | 3 | Gain | - |
| SIRT1 | - | - | - | - | 4 | Gain | - |
| SIX5 | p.A625Pfs*31 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
| SKA1 | - | - | - | - | 3 | Gain | - |
| SKIDA1 | - | - | - | - | 4 | Gain | - |
| SKOR2 | - | - | - | - | 3 | Gain | - |
| SLA | p.R173H | Missense | SNP | 0.377 | 3 | Gain | - |
| SLC10A5 | - | - | - | - | 3 | Gain | - |
| SLC14A1 | - | - | - | - | 3 | Gain | - |
| SLC14A2 | - | - | - | - | 3 | Gain | - |
| SLC16A10 | p.I282Ffs*9 | Frame_Shift_Del | DEL | 0.503 | 2 | - | - |
| SLC16A12 | - | - | - | - | 4 | Gain | - |
| SLC16A2 | p.G147R | Missense | SNP | 0.564 | ND | ND | - |
| SLC16A9 | - | - | - | - | 4 | Gain | - |
| SLC18A1 | - | - | - | - | 3 | Gain | - |
| SLC18A2 | p.G231V | Missense | SNP | 0.368 | 4 | Gain | - |
| SLC18A3 | - | - | - | - | 4 | Gain | - |
| SLC19A3 | p.R277H | Missense | SNP | 0.373 | 2 | - | - |
| SLC1A7 | p.T406I | Missense | SNP | 0.350 | 2 | - | - |
| SLC20A2 | - | - | - | - | 3 | Gain | - |
| SLC22A16 | p.T87M | Missense | SNP | 0.525 | 2 | - | - |
| SLC22A18 | p.T93M | Missense | SNP | 0.490 | 2 | - | - |
| SLC22A6 | p.R192W | Missense | SNP | 0.532 | 2 | - | - |
| SLC25A16 | - | - | - | - | 4 | Gain | - |
| SLC25A24 | p.G192R | Missense | SNP | 0.515 | 2 | - | - |
| SLC25A28 | - | - | - | - | 4 | Gain | - |
| SLC25A32 | - | - | - | - | 3 | Gain | - |
| SLC25A37 | - | - | - | - | 3 | Gain | - |
| SLC25A52 | - | - | - | - | 3 | Gain | - |
| SLC26A1 | p.R365H | Missense | SNP | 0.452 | 2 | - | - |
| SLC26A7 | - | - | - | - | 3 | Gain | - |
| SLC29A3 | - | - | - | - | 4 | Gain | - |
| SLC30A8 | p.S183R | Missense | SNP | 0.517 | 3 | Gain | - |
| SLC35G1 | - | - | - | - | 4 | Gain | - |
| SLC35G4 | - | - | - | - | 3 | Gain | - |
| SLC35G5 | - | - | - | - | 3 | Gain | - |
| SLC39A12 | - | - | - | - | 4 | Gain | - |
| SLC39A13 | p.A279T | Missense | SNP | 0.543 | 2 | - | - |
| SLC39A14 | - | - | - | - | 3 | Gain | - |
| SLC39A4 | - | - | - | - | 3 | Gain | - |
| SLC39A6 | - | - | - | - | 3 | Gain | - |
| SLC44A4 | p.V238Wfs*5 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
| SLC45A1 | p.P494L | Missense | SNP | 0.657 | 2 | - | - |
| SLC45A4 | - | - | - | - | 3 | Gain | - |
| SLC52A2 | - | - | - | - | 3 | Gain | - |
| SLC5A6 | p.R142* | Nonsense | SNP | 0.495 | 2 | - | - |
| SLC6A17 | p.G110E | Missense | SNP | 0.355 | 2 | - | - |
| SLC7A10 | p.T158Pfs*12 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
| SLC7A13 | - | - | - | - | 3 | Gain | - |
| SLC7A2 | - | - | - | - | 3 | Gain | - |
| SLC9C1 | p.F10Sfs*11 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
| SLCO4A1 | p.T297M | Missense | SNP | 0.571 | 2 | - | - |
| SLCO5A1 | - | - | - | - | 3 | Gain | - |
| SLF2 | - | - | - | - | 4 | Gain | - |
| SLIT1 | - | - | - | - | 4 | Gain | - |
| SLIT2 | p.N929Mfs*46 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
| SLITRK2 | p.Q61Pfs*35 | Frame_Shift_Ins | INS | 0.327 | ND | ND | - |
| SLITRK5 | p.N762Tfs*12 | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
| SLK | - | - | - | - | 4 | Gain | - |
| SLURP1 | - | - | - | - | 3 | Gain | - |
| SLURP2 | - | - | - | - | 3 | Gain | - |
| SMAD2 | - | - | - | - | 3 | Gain | - |
| SMAD4 | - | - | - | - | 3 | Gain | - |
| SMAD7 | p.P209Lfs*115 | Frame_Shift_Del | DEL | 0.333 | 3 | Gain | - |
| SMAP1 | p.K172Rfs*48 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
| SMARCA1 | p.K57del | In_Frame_Del | DEL | 0.369 | ND | ND | - |
| SMARCA4 | p.G271Rfs*16 p.G911D p.R1157Q | Frame_Shift_Ins Missense Missense | INS SNP SNP | 0.304 0.537 0.495 | 2 | - | - |
| SMARCD1 | p.R503* | Nonsense | SNP | 0.457 | 2 | - | - |
| SMC2 | p.K368E | Missense | SNP | 0.424 | 2 | - | - |
| SMC3 | - | - | - | - | 4 | Gain | - |
| SMCHD1 | - | - | - | - | 3 | Gain | - |
| SMIM18 | - | - | - | - | 3 | Gain | - |
| SMIM19 | - | - | - | - | 3 | Gain | - |
| SMIM21 | - | - | - | - | 3 | Gain | - |
| SMNDC1 | - | - | - | - | 4 | Gain | - |
| SMPD4 | - | - | - | - | 1 | Loss | - |
| SMPX | p.R34Qfs*8 | Frame_Shift_Ins | INS | 0.311 | ND | ND | - |
| SMYD4 | p.S737G | Missense | SNP | 0.422 | 2 | - | - |
| SNAI2 | - | - | - | - | 3 | Gain | - |
| SNCG | - | - | - | - | 4 | Gain | - |
| SND1 | p.R539H | Missense | SNP | 0.511 | 2 | - | - |
| SNED1 | p.P701Rfs*4 | Frame_Shift_Del | DEL | 0.314 | 2 | - | - |
| SNRPB | p.R25W | Missense | SNP | 0.301 | 2 | - | - |
| SNRPD1 | - | - | - | - | 3 | Gain | - |
| SNTB1 | - | - | - | - | 3 | Gain | - |
| SNTG1 | - | - | - | - | 3 | Gain | - |
| SNW1 | p.Q15H | Missense | SNP | 0.393 | 2 | - | - |
| SNX16 | - | - | - | - | 3 | Gain | - |
| SNX31 | - | - | - | - | 3 | Gain | - |
| SOCS6 | - | - | - | - | 3 | Gain | - |
| SORBS1 | - | - | - | - | 4 | Gain | - |
| SORBS3 | - | - | - | - | 3 | Gain | - |
| SORCS1 | - | - | - | - | 4 | Gain | - |
| SORCS3 | - | - | - | - | 4 | Gain | - |
| SOS1 | p.K1030Nfs*6 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| SOX17 | - | - | - | - | 3 | Gain | - |
| SOX7 | - | - | - | - | 3 | Gain | - |
| SPAG1 | - | - | - | - | 3 | Gain | - |
| SPAG11A | - | - | - | - | 3 | Gain | - |
| SPAG11B | - | - | - | - | 3 | Gain | - |
| SPAG5 | p.R259C | Missense | SNP | 0.446 | 2 | - | - |
| SPAG6 | - | - | - | - | 4 | Gain | - |
| SPATA13 | p.R896H | Missense | SNP | 0.448 | 2 | - | - |
| SPATA22 | p.N194Tfs*30 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
| SPATA31A1 | p.S1009Y | Missense | SNP | 0.562 | 2 | - | - |
| SPATA31D4 | p.N780Kfs*6 | Frame_Shift_Ins | INS | 0.241 | 2 | - | - |
| SPATC1 | - | - | - | - | 3 | Gain | - |
| SPDYE2 | - | - | - | - | 1 | Loss | - |
| SPEN | p.V1907I | Missense | SNP | 0.423 | 2 | - | - |
| SPIDR | - | - | - | - | 3 | Gain | - |
| SPIRE1 | - | - | - | - | 3 | Gain | - |
| SPNS2 | p.G79Afs*91 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
| SPOCK2 | - | - | - | - | 4 | Gain | - |
| SPON2 | p.T209M | Missense | SNP | 0.455 | 2 | - | - |
| SPRN | - | - | - | - | 3 | Gain | - |
| SPTAN1 | p.R474W | Missense | SNP | 0.494 | 2 | - | - |
| SPTBN4 | p.C355Y | Missense | SNP | 0.463 | 2 | - | - |
| SQLE | - | - | - | - | 3 | Gain | - |
| SREBF1 | p.A1026T | Missense | SNP | 0.464 | 2 | - | - |
| SRGAP3 | p.R585Q | Missense | SNP | 0.412 | 2 | - | - |
| SRGN | - | - | - | - | 4 | Gain | - |
| SRPRA | p.K170Rfs*33 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
| SRRT | p.G105Wfs*15 | Frame_Shift_Ins | INS | 0.195 | 2 | - | - |
| SS18 | - | - | - | - | 3 | Gain | - |
| SSRP1 | p.R463W | Missense | SNP | 0.412 | 2 | - | - |
| SSTR1 | p.R336H | Missense | SNP | 0.412 | 2 | - | - |
| SSTR4 | p.R252C | Missense | SNP | 0.520 | 2 | - | - |
| SSU72 | p.D50N | Missense | SNP | 0.457 | 2 | - | - |
| ST18 | - | - | - | - | 3 | Gain | - |
| ST3GAL1 | - | - | - | - | 3 | Gain | - |
| ST8SIA3 | - | - | - | - | 3 | Gain | - |
| ST8SIA5 | - | - | - | - | 3 | Gain | - |
| ST8SIA6 | p.A252Pfs*53 | Frame_Shift_Del | DEL | 0.236 | 4 | Gain | - |
| STAB1 | p.E1712Rfs*8 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
| STAM | - | - | - | - | 4 | Gain | - |
| STAMBPL1 | - | - | - | - | 4 | Gain | - |
| STAR | - | - | - | - | 3 | Gain | - |
| STARD6 | - | - | - | - | 3 | Gain | - |
| STAT5B | p.R430H | Missense | SNP | 0.516 | 2 | - | - |
| STAU2 | - | - | - | - | 3 | Gain | - |
| STC1 | - | - | - | - | 3 | Gain | - |
| STK3 | - | - | - | - | 3 | Gain | - |
| STK32C | - | - | - | - | 3 | Gain | - |
| STK38 | p.F382Lfs*70 | Frame_Shift_Del | DEL | 0.528 | 2 | - | - |
| STMN2 | - | - | - | - | 3 | Gain | - |
| STMN4 | p.R205Q | Missense | SNP | 0.540 | 3 | Gain | - |
| STN1 | - | - | - | - | 4 | Gain | - |
| STOX1 | - | - | - | - | 4 | Gain | - |
| STRBP | p.R289* | Nonsense | SNP | 0.478 | 2 | - | - |
| SUFU | p.R224Q | Missense | SNP | 0.245 | 4 | Gain | - |
| SULF1 | - | - | - | - | 3 | Gain | - |
| SUPT5H | p.Y564H p.R700Q | Missense Missense | SNP SNP | 0.419 0.592 | 2 | - | - |
| SUPV3L1 | - | - | - | - | 4 | Gain | - |
| SURF2 | p.R28M | Missense | SNP | 0.553 | 2 | - | - |
| SURF6 | p.R216H | Missense | SNP | 0.471 | 2 | - | - |
| SUV39H2 | - | - | - | - | 4 | Gain | - |
| SVIL | - | - | - | - | 4 | Gain | - |
| SYBU | - | - | - | - | 3 | Gain | - |
| SYCE1 | - | - | - | - | 3 | Gain | - |
| SYNPO | p.S750N | Missense | SNP | 0.533 | 2 | - | - |
| SYNPO2L | - | - | - | - | 4 | Gain | - |
| SYT15 | - | - | - | - | 3 | Gain | - |
| SYT4 | - | - | - | - | 3 | Gain | - |
| TACC1 | p.K261Qfs*9 | Frame_Shift_Ins | INS | 0.395 | 3 | Gain | - |
| TACC2 | - | - | - | - | 4 | Gain | - |
| TACR2 | - | - | - | - | 4 | Gain | - |
| TAF1B | p.S471Afs*28 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
| TAF2 | - | - | - | - | 3 | Gain | - |
| TAF3 | - | - | - | - | 4 | Gain | - |
| TAF4 | p.X588_splice | Splice_Site | SNP | 0.553 | 2 | - | - |
| TAF4B | - | - | - | - | 3 | Gain | - |
| TAF5 | - | - | - | - | 4 | Gain | - |
| TAOK3 | p.A784V | Missense | SNP | 0.374 | 2 | - | - |
| TAS1R1 | p.L75I | Missense | SNP | 0.547 | 2 | - | - |
| TAS1R2 | p.R226H | Missense | SNP | 0.483 | 2 | - | - |
| TATDN1 | - | - | - | - | 3 | Gain | - |
| TBATA | - | - | - | - | 4 | Gain | - |
| TBC1D12 | - | - | - | - | 4 | Gain | - |
| TBC1D31 | - | - | - | - | 3 | Gain | - |
| TCEA1 | - | - | - | - | 3 | Gain | - |
| TCEAL4 | p.A16V | Missense | SNP | 0.500 | ND | ND | - |
| TCERG1L | - | - | - | - | 3 | Gain | - |
| TCF24 | - | - | - | - | 3 | Gain | - |
| TCF3 | p.R609W | Missense | SNP | 0.410 | 2 | - | - |
| TCF4 | - | - | - | - | 3 | Gain | - |
| TCF7L2 | - | - | - | - | 4 | Gain | - |
| TCIM | - | - | - | - | 3 | Gain | - |
| TCP11L2 | p.L308P | Missense | SNP | 0.436 | 2 | - | - |
| TCTN3 | - | - | - | - | 4 | Gain | - |
| TDRD1 | - | - | - | - | 4 | Gain | - |
| TDRP | - | - | - | - | 3 | Gain | - |
| TEAD2 | p.H299Mfs*12 | Frame_Shift_Del | DEL | 0.428 | 2 | - | - |
| TECTB | - | - | - | - | 4 | Gain | - |
| TENM3 | p.R1195W | Missense | SNP | 0.534 | 2 | - | - |
| TERF1 | - | - | - | - | 3 | Gain | - |
| TET1 | p.R222H | Missense | SNP | 0.440 | 4 | Gain | - |
| TEX15 | - | - | - | - | 3 | Gain | - |
| TEX264 | p.R203W | Missense | SNP | 0.447 | 2 | - | - |
| TEX36 | - | - | - | - | 4 | Gain | - |
| TFAM | p.E148Sfs*2 | Frame_Shift_Del | DEL | 0.561 | 4 | Gain | - |
| TFCP2 | p.R257Q | Missense | SNP | 0.393 | 2 | - | - |
| TG | - | - | - | - | 3 | Gain | - |
| TGIF1 | - | - | - | - | 3 | Gain | - |
| TGM1 | p.R46C | Missense | SNP | 0.535 | 2 | - | - |
| TGM7 | p.R498M | Missense | SNP | 0.347 | 2 | - | - |
| TGS1 | - | - | - | - | 3 | Gain | - |
| THAP1 | - | - | - | - | 3 | Gain | - |
| THAP8 | p.L116Cfs*15 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
| THBS2 | p.R812* | Nonsense | SNP | 0.510 | 2 | - | - |
| THEM6 | - | - | - | - | 3 | Gain | - |
| THNSL1 | - | - | - | - | 4 | Gain | - |
| THOC1 | - | - | - | - | 3 | Gain | - |
| THSD7B | p.G987C | Missense | SNP | 0.338 | 2 | - | - |
| TIAL1 | - | - | - | - | 4 | Gain | - |
| TICAM1 | p.A568V | Missense | SNP | 0.476 | 2 | - | - |
| TICRR | p.R1086* | Nonsense | SNP | 0.455 | 2 | - | - |
| TIE1 | p.R603H | Missense | SNP | 0.491 | 2 | - | - |
| TIFAB | p.E143D | Missense | SNP | 0.447 | 2 | - | - |
| TIGD5 | - | - | - | - | 3 | Gain | - |
| TIMM21 | - | - | - | - | 3 | Gain | - |
| TIMM23 | - | - | - | - | 3 | Gain | - |
| TIMM23B | - | - | - | - | 4 | Gain | - |
| TKTL2 | p.R24Q | Missense | SNP | 0.435 | 2 | - | - |
| TLE2 | p.S250Qfs*30 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
| TLL2 | - | - | - | - | 4 | Gain | - |
| TLN2 | p.V1160M p.E2318K | Missense Missense | SNP SNP | 0.558 0.509 | 2 | - | - |
| TLX1 | - | - | - | - | 4 | Gain | - |
| TM2D2 | - | - | - | - | 3 | Gain | - |
| TM6SF2 | p.A201T p.A107V | Missense Missense | SNP SNP | 0.454 0.458 | 2 | - | - |
| TM9SF3 | - | - | - | - | 4 | Gain | - |
| TMED3 | p.V153I | Missense | SNP | 0.430 | 2 | - | - |
| TMEM131 | p.D1577G | Missense | SNP | 0.498 | 2 | - | - |
| TMEM155 | p.S121Ifs*44 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
| TMEM168 | p.R258C | Missense | SNP | 0.490 | 2 | - | - |
| TMEM169 | p.T164M | Missense | SNP | 0.514 | 2 | - | - |
| TMEM181 | p.F186L p.G452R | Missense Missense | SNP SNP | 0.553 0.544 | 2 | - | - |
| TMEM200C | p.P21Qfs*22 | Frame_Shift_Del | DEL | 0.244 | 3 | Gain | - |
| TMEM231 | p.S275N | Missense | SNP | 0.484 | 2 | - | - |
| TMEM236 | - | - | - | - | 4 | Gain | - |
| TMEM239 | p.G136S | Missense | SNP | 0.470 | 2 | - | - |
| TMEM241 | - | - | - | - | 3 | Gain | - |
| TMEM249 | - | - | - | - | 3 | Gain | - |
| TMEM254 | - | - | - | - | 4 | Gain | - |
| TMEM26 | - | - | - | - | 4 | Gain | - |
| TMEM273 | - | - | - | - | 3 | Gain | - |
| TMEM64 | - | - | - | - | 3 | Gain | - |
| TMEM65 | - | - | - | - | 3 | Gain | - |
| TMEM67 | - | - | - | - | 3 | Gain | - |
| TMEM68 | - | - | - | - | 3 | Gain | - |
| TMEM70 | - | - | - | - | 3 | Gain | - |
| TMEM71 | - | - | - | - | 3 | Gain | - |
| TMEM72 | - | - | - | - | 3 | Gain | - |
| TMEM74 | - | - | - | - | 3 | Gain | - |
| TMEM92 | p.Y120Tfs*4 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
| TMTC2 | p.Q829Tfs*7 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
| TMX3 | - | - | - | - | 3 | Gain | - |
| TNFRSF10A | - | - | - | - | 3 | Gain | - |
| TNFRSF10B | - | - | - | - | 3 | Gain | - |
| TNFRSF10C | - | - | - | - | 3 | Gain | - |
| TNFRSF10D | - | - | - | - | 3 | Gain | - |
| TNFRSF11A | p.P432L | Missense | SNP | 0.718 | 3 | Gain | - |
| TNFRSF11B | - | - | - | - | 3 | Gain | - |
| TNKS | - | - | - | - | 3 | Gain | - |
| TNKS2 | - | - | - | - | 4 | Gain | - |
| TNRC18 | p.A832P | Missense | SNP | 0.448 | 2 | - | - |
| TNRC6C | p.N615Mfs*45 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
| TNS1 | p.R1198Q | Missense | SNP | 0.517 | 2 | - | - |
| TONSL | - | - | - | - | 3 | Gain | - |
| TOP1MT | - | - | - | - | 3 | Gain | - |
| TOX | - | - | - | - | 3 | Gain | - |
| TP53INP1 | - | - | - | - | 3 | Gain | - |
| TPD52 | - | - | - | - | 3 | Gain | - |
| TPGS2 | - | - | - | - | 3 | Gain | - |
| TRAF2 | p.R486W | Missense | SNP | 0.429 | 2 | - | - |
| TRAM1 | - | - | - | - | 3 | Gain | - |
| TRAPPC8 | - | - | - | - | 3 | Gain | - |
| TRAPPC9 | - | - | - | - | 3 | Gain | - |
| TRDMT1 | - | - | - | - | 4 | Gain | - |
| TRDN | p.A435V | Missense | SNP | 0.459 | 2 | - | - |
| TRHR | - | - | - | - | 3 | Gain | - |
| TRIB1 | - | - | - | - | 3 | Gain | - |
| TRIM10 | p.R429W | Missense | SNP | 0.573 | 2 | - | - |
| TRIM28 | p.R470W | Missense | SNP | 0.457 | 2 | - | - |
| TRIM3 | p.S74L | Missense | SNP | 0.445 | 2 | - | - |
| TRIM35 | - | - | - | - | 3 | Gain | - |
| TRIM36 | p.R44H | Missense | SNP | 0.500 | 2 | - | - |
| TRIM55 | - | - | - | - | 3 | Gain | - |
| TRIM73 | p.R52C | Missense | SNP | 0.302 | 2 | - | - |
| TRIM8 | - | - | - | - | 4 | Gain | - |
| TRIO | p.R558C p.L1071P | Missense Missense | SNP SNP | 0.496 0.462 | 2 | - | - |
| TRIOBP | p.R2039W | Missense | SNP | 0.438 | 2 | - | - |
| TRIP12 | p.X378_splice | Splice_Site | SNP | 0.431 | 2 | - | - |
| TRIQK | - | - | - | - | 3 | Gain | - |
| TRMT12 | - | - | - | - | 3 | Gain | - |
| TRMT5 | p.R432W | Missense | SNP | 0.423 | 2 | - | - |
| TRMT9B | - | - | - | - | 3 | Gain | - |
| TRPA1 | - | - | - | - | 3 | Gain | - |
| TRPM2 | p.A1278T | Missense | SNP | 0.458 | 2 | - | - |
| TRPM3 | p.T944M | Missense | SNP | 0.483 | 2 | - | - |
| TRPS1 | - | - | - | - | 3 | Gain | - |
| TRUB1 | - | - | - | - | 4 | Gain | - |
| TSHZ1 | - | - | - | - | 3 | Gain | - |
| TSHZ3 | p.A211Pfs*19 | Frame_Shift_Del | DEL | 0.377 | 2 | - | - |
| TSNARE1 | - | - | - | - | 3 | Gain | - |
| TSPAN14 | - | - | - | - | 4 | Gain | - |
| TSPAN15 | - | - | - | - | 4 | Gain | - |
| TSPEAR | p.R67Afs*3 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
| TSPYL5 | - | - | - | - | 3 | Gain | - |
| TSR3 | p.A294Lfs*28 | Frame_Shift_Del | DEL | 0.414 | 2 | - | - |
| TSTA3 | - | - | - | - | 3 | Gain | - |
| TTC14 | p.R459C | Missense | SNP | 0.321 | 2 | - | - |
| TTC16 | p.R86H | Missense | SNP | 0.484 | 2 | - | - |
| TTC30A | p.M601Dfs*5 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
| TTC37 | p.Y827* | Nonsense | SNP | 0.540 | 2 | - | - |
| TTC39C | p.A444V | Missense | SNP | 0.652 | 3 | Gain | - |
| TTC6 | p.L540Sfs*19 p.R923H | Frame_Shift_Del Missense | DEL SNP | 0.461 0.587 | 2 | - | - |
| TTC7A | p.T733M | Missense | SNP | 0.471 | 2 | - | - |
| TTI2 | - | - | - | - | 3 | Gain | - |
| TTN | p.P13097Lfs*12 p.K9807Rfs*5 p.R13727H p.G5061S | Frame_Shift_Del Frame_Shift_Del Missense Missense | DEL DEL SNP SNP | 0.407 0.560 0.493 0.551 | 2 | - | - |
| TTPA | - | - | - | - | 3 | Gain | - |
| TTR | - | - | - | - | 3 | Gain | - |
| TUBAL3 | - | - | - | - | 4 | Gain | - |
| TUBB4B | - | - | - | - | 2 | - | AL139099.4--TUBB4B |
| TUBB6 | - | - | - | - | 3 | Gain | - |
| TUBB8 | - | - | - | - | 4 | Gain | - |
| TUBGCP2 | - | - | - | - | 3 | Gain | - |
| TUBGCP6 | p.P1371H p.R793C | Missense Missense | SNP SNP | 0.451 0.514 | 2 | - | - |
| TUSC3 | - | - | - | - | 3 | Gain | - |
| TVP23A | p.F140Lfs*7 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| TWNK | - | - | - | - | 4 | Gain | - |
| TWSG1 | - | - | - | - | 3 | Gain | - |
| TXNDC2 | - | - | - | - | 3 | Gain | - |
| TXNL1 | - | - | - | - | 3 | Gain | - |
| TXNL4A | p.G128S | Missense | SNP | 0.284 | 3 | Gain | - |
| TYMS | - | - | - | - | 3 | Gain | - |
| TYSND1 | - | - | - | - | 4 | Gain | - |
| TYW1 | p.W154* | Nonsense | SNP | 0.472 | 2 | - | - |
| UBA2 | p.A380T | Missense | SNP | 0.472 | 2 | - | - |
| UBE2D1 | - | - | - | - | 4 | Gain | - |
| UBE2V2 | - | - | - | - | 3 | Gain | - |
| UBE2W | - | - | - | - | 3 | Gain | - |
| UBR4 | p.R142* | Nonsense | SNP | 0.556 | 2 | - | - |
| UBR5 | - | - | - | - | 3 | Gain | - |
| UBTD1 | - | - | - | - | 4 | Gain | - |
| UBXN2B | - | - | - | - | 3 | Gain | - |
| UBXN8 | - | - | - | - | 3 | Gain | - |
| UCMA | - | - | - | - | 4 | Gain | - |
| UCN3 | - | - | - | - | 4 | Gain | - |
| UGT1A8 | p.P264T | Missense | SNP | 0.540 | 2 | - | - |
| UNC13A | p.R1566W p.R39W | Missense Missense | SNP SNP | 0.400 0.477 | 2 | - | - |
| UNC5B | - | - | - | - | 4 | Gain | - |
| UNC5D | - | - | - | - | 3 | Gain | - |
| UNK | p.R123H | Missense | SNP | 0.419 | 2 | - | - |
| UPF2 | - | - | - | - | 4 | Gain | - |
| UPF3A | p.E267Rfs*13 | Frame_Shift_Del | DEL | 0.526 | 2 | - | - |
| UPK3BL1 | - | - | - | - | 1 | Loss | - |
| UQCRB | - | - | - | - | 3 | Gain | - |
| UROS | p.F196Lfs*44 | Frame_Shift_Del | DEL | 0.258 | 4 | Gain | - |
| USH2A | p.R310Q | Missense | SNP | 0.459 | 2 | - | - |
| USP1 | p.N662Mfs*2 | Frame_Shift_Del | DEL | 0.296 | 2 | - | - |
| USP11 | p.L338F | Missense | SNP | 0.333 | ND | ND | - |
| USP14 | - | - | - | - | 3 | Gain | - |
| USP2 | p.X413_splice | Splice_Site | INS | 0.294 | 2 | - | - |
| USP40 | p.Q1160Tfs*20 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
| USP54 | - | - | - | - | 4 | Gain | - |
| USP6NL | - | - | - | - | 4 | Gain | - |
| USP9X | p.E2102K | Missense | SNP | 0.489 | ND | ND | - |
| UTF1 | - | - | - | - | 3 | Gain | - |
| UTP15 | p.L425* | Frame_Shift_Del | DEL | 0.530 | 2 | - | - |
| UTP23 | - | - | - | - | 3 | Gain | - |
| VAPA | - | - | - | - | 3 | Gain | - |
| VAX1 | - | - | - | - | 4 | Gain | - |
| VCAN | p.W1619* | Nonsense | SNP | 0.580 | 2 | - | - |
| VCL | - | - | - | - | 4 | Gain | - |
| VCPIP1 | - | - | - | - | 3 | Gain | - |
| VDAC2 | - | - | - | - | 4 | Gain | - |
| VDAC3 | - | - | - | - | 3 | Gain | - |
| VENTX | - | - | - | - | 3 | Gain | - |
| VEZF1 | p.V470I | Missense | SNP | 0.567 | 2 | - | - |
| VIM | - | - | - | - | 4 | Gain | - |
| VIRMA | - | - | - | - | 3 | Gain | - |
| VPS13A | p.I1709Nfs*6 p.R161H | Frame_Shift_Ins Missense | INS SNP | 0.283 0.446 | 2 | - | - |
| VPS13B | - | - | - | - | 3 | Gain | - |
| VPS16 | p.R321H | Missense | SNP | 0.463 | 2 | - | - |
| VPS18 | p.A889V | Missense | SNP | 0.495 | 2 | - | - |
| VPS26A | - | - | - | - | 4 | Gain | - |
| VPS28 | - | - | - | - | 3 | Gain | - |
| VPS35 | p.S179Y | Missense | SNP | 0.412 | 2 | - | - |
| VPS37A | - | - | - | - | 3 | Gain | - |
| VPS4B | - | - | - | - | 3 | Gain | - |
| VPS51 | p.V609M | Missense | SNP | 0.344 | 2 | - | - |
| VPS8 | p.Q877H | Missense | SNP | 0.397 | 2 | - | - |
| VSIR | - | - | - | - | 4 | Gain | - |
| VSTM4 | - | - | - | - | 3 | Gain | - |
| VSX2 | p.A52V | Missense | SNP | 0.390 | 2 | - | - |
| VTI1A | - | - | - | - | 4 | Gain | - |
| VWA2 | - | - | - | - | 4 | Gain | - |
| VXN | - | - | - | - | 3 | Gain | - |
| WAC | - | - | - | - | 4 | Gain | - |
| WAPL | - | - | - | - | 4 | Gain | - |
| WASHC2A | - | - | - | - | 4 | Gain | - |
| WASHC2C | - | - | - | - | 3 | Gain | - |
| WASHC5 | - | - | - | - | 3 | Gain | - |
| WBP11 | p.G521Wfs*28 | Frame_Shift_Ins | INS | 0.249 | 2 | - | - |
| WBP1L | - | - | - | - | 4 | Gain | - |
| WDFY4 | - | - | - | - | 3 | Gain | - |
| WDR11 | - | - | - | - | 4 | Gain | - |
| WDR37 | - | - | - | - | 4 | Gain | - |
| WDR47 | p.V693I | Missense | SNP | 0.491 | 2 | - | - |
| WDR7 | - | - | - | - | 3 | Gain | - |
| WDR97 | - | - | - | - | 3 | Gain | - |
| WDTC1 | p.E290Tfs*6 p.V621M | Frame_Shift_Del Missense | DEL SNP | 0.475 0.401 | 2 | - | - |
| WDYHV1 | - | - | - | - | 3 | Gain | - |
| WFDC3 | p.R66* | Nonsense | SNP | 0.555 | 2 | - | - |
| WISP1 | p.R161C | Missense | SNP | 0.681 | 3 | Gain | - |
| WISP3 | p.K226Nfs*24 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
| WIZ | p.R234W | Missense | SNP | 0.477 | 2 | - | - |
| WNK1 | p.P743T | Missense | SNP | 0.405 | 2 | - | - |
| WNK3 | p.S649P p.A403S | Missense Missense | SNP SNP | 0.491 0.385 | ND | ND | - |
| WNT2 | p.S95N | Missense | SNP | 0.487 | 2 | - | - |
| WNT4 | p.K107Q | Missense | SNP | 0.439 | 2 | - | - |
| WNT6 | p.D289N | Missense | SNP | 0.440 | 2 | - | - |
| WNT8B | - | - | - | - | 4 | Gain | - |
| WRN | - | - | - | - | 3 | Gain | - |
| WSCD1 | p.R76Q | Missense | SNP | 0.414 | 2 | - | - |
| WWC2 | p.M206Cfs*17 p.R380Q | Frame_Shift_Del Missense | DEL SNP | 0.492 0.555 | 2 | - | - |
| WWP1 | - | - | - | - | 3 | Gain | - |
| XIRP2 | p.N1589T | Missense | SNP | 0.467 | 2 | - | - |
| XKR4 | - | - | - | - | 3 | Gain | - |
| XKR5 | - | - | - | - | 3 | Gain | - |
| XKR6 | - | - | - | - | 3 | Gain | - |
| XKR9 | - | - | - | - | 3 | Gain | - |
| XPNPEP1 | - | - | - | - | 4 | Gain | - |
| XPO7 | - | - | - | - | 3 | Gain | - |
| YES1 | - | - | - | - | 3 | Gain | - |
| YLPM1 | p.G1063D | Missense | SNP | 0.459 | 2 | - | - |
| YME1L1 | - | - | - | - | 4 | Gain | - |
| YTHDF3 | - | - | - | - | 3 | Gain | - |
| YWHAZ | - | - | - | - | 3 | Gain | - |
| ZADH2 | - | - | - | - | 3 | Gain | - |
| ZBTB1 | p.K524Sfs*25 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| ZBTB10 | - | - | - | - | 3 | Gain | - |
| ZBTB14 | p.R30H | Missense | SNP | 0.280 | 3 | Gain | - |
| ZBTB20 | p.P692Lfs*43 | Frame_Shift_Del | DEL | 0.172 | 2 | - | - |
| ZBTB38 | p.R917C | Missense | SNP | 0.415 | 2 | - | - |
| ZBTB4 | p.A958V | Missense | SNP | 0.545 | 2 | - | - |
| ZBTB46 | p.G517D | Missense | SNP | 0.540 | 2 | - | - |
| ZBTB7A | p.A559V | Missense | SNP | 0.343 | 2 | - | - |
| ZBTB7C | - | - | - | - | 3 | Gain | - |
| ZC2HC1A | - | - | - | - | 3 | Gain | - |
| ZC3H3 | - | - | - | - | 3 | Gain | - |
| ZCCHC2 | - | - | - | - | 3 | Gain | - |
| ZCCHC24 | - | - | - | - | 4 | Gain | - |
| ZCRB1 | p.K140Rfs*13 | Frame_Shift_Del | DEL | 0.253 | 2 | - | - |
| ZDHHC16 | - | - | - | - | 4 | Gain | - |
| ZDHHC18 | p.P367L | Missense | SNP | 0.458 | 2 | - | - |
| ZDHHC2 | - | - | - | - | 3 | Gain | - |
| ZDHHC5 | p.L657S | Missense | SNP | 0.473 | 2 | - | - |
| ZDHHC6 | - | - | - | - | 4 | Gain | - |
| ZEB1 | - | - | - | - | 4 | Gain | - |
| ZFAND1 | - | - | - | - | 3 | Gain | - |
| ZFAND4 | - | - | - | - | 3 | Gain | - |
| ZFAT | - | - | - | - | 3 | Gain | - |
| ZFHX4 | p.L411Cfs*4 p.P2057Hfs*26 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.556 0.556 | 3 | Gain | - |
| ZFP36L2 | p.A229Rfs*245 p.G144Afs*43 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.234 0.432 | 2 | - | - |
| ZFP41 | - | - | - | - | 3 | Gain | - |
| ZFPM2 | - | - | - | - | 3 | Gain | - |
| ZFYVE27 | - | - | - | - | 4 | Gain | - |
| ZHX1 | - | - | - | - | 3 | Gain | - |
| ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
| ZHX2 | - | - | - | - | 3 | Gain | - |
| ZKSCAN2 | p.A166V | Missense | SNP | 0.654 | 2 | - | - |
| ZMAT4 | - | - | - | - | 3 | Gain | - |
| ZMIZ1 | - | - | - | - | 4 | Gain | - |
| ZMYM3 | p.L85Afs*4 | Frame_Shift_Ins | INS | 0.306 | ND | ND | - |
| ZMYM6 | p.N724Mfs*15 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
| ZMYND11 | - | - | - | - | 4 | Gain | - |
| ZMYND8 | p.K655Sfs*14 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
| ZNF134 | p.E208K | Missense | SNP | 0.415 | 2 | - | - |
| ZNF14 | p.R547* | Nonsense | SNP | 0.458 | 2 | - | - |
| ZNF157 | p.K53N | Missense | SNP | 0.472 | ND | ND | - |
| ZNF16 | - | - | - | - | 3 | Gain | - |
| ZNF205 | p.A493V | Missense | SNP | 0.394 | 2 | - | - |
| ZNF22 | - | - | - | - | 3 | Gain | - |
| ZNF236 | - | - | - | - | 3 | Gain | - |
| ZNF239 | - | - | - | - | 3 | Gain | - |
| ZNF24 | - | - | - | - | 3 | Gain | - |
| ZNF248 | - | - | - | - | 4 | Gain | - |
| ZNF25 | - | - | - | - | 4 | Gain | - |
| ZNF250 | - | - | - | - | 3 | Gain | - |
| ZNF251 | - | - | - | - | 3 | Gain | - |
| ZNF3 | p.T99Rfs*4 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| ZNF32 | - | - | - | - | 3 | Gain | - |
| ZNF33A | - | - | - | - | 4 | Gain | - |
| ZNF33B | - | - | - | - | 3 | Gain | - |
| ZNF34 | - | - | - | - | 3 | Gain | - |
| ZNF365 | - | - | - | - | 4 | Gain | - |
| ZNF37A | - | - | - | - | 4 | Gain | - |
| ZNF384 | p.P517S | Missense | SNP | 0.456 | 2 | - | - |
| ZNF395 | - | - | - | - | 3 | Gain | - |
| ZNF396 | - | - | - | - | 3 | Gain | - |
| ZNF397 | - | - | - | - | 3 | Gain | - |
| ZNF407 | - | - | - | - | 3 | Gain | - |
| ZNF438 | - | - | - | - | 4 | Gain | - |
| ZNF441 | p.P418S | Missense | SNP | 0.521 | 2 | - | - |
| ZNF460 | p.P447L | Missense | SNP | 0.469 | 2 | - | - |
| ZNF485 | - | - | - | - | 3 | Gain | - |
| ZNF487 | - | - | - | - | 3 | Gain | - |
| ZNF488 | - | - | - | - | 3 | Gain | - |
| ZNF503 | - | - | - | - | 4 | Gain | - |
| ZNF511 | - | - | - | - | 3 | Gain | - |
| ZNF511-PRAP1 | - | - | - | - | 3 | Gain | - |
| ZNF513 | p.R489H | Missense | SNP | 0.496 | 2 | - | - |
| ZNF516 | - | - | - | - | 3 | Gain | - |
| ZNF517 | - | - | - | - | 3 | Gain | - |
| ZNF518A | - | - | - | - | 4 | Gain | - |
| ZNF519 | - | - | - | - | 3 | Gain | - |
| ZNF521 | - | - | - | - | 3 | Gain | - |
| ZNF532 | p.R421Gfs*9 | Frame_Shift_Del | DEL | 0.538 | 3 | Gain | - |
| ZNF549 | p.G97V | Missense | SNP | 0.206 | 2 | - | - |
| ZNF552 | p.S172N | Missense | SNP | 0.467 | 2 | - | - |
| ZNF567 | p.H253Tfs*5 | Frame_Shift_Ins | INS | 0.285 | 2 | - | - |
| ZNF572 | - | - | - | - | 3 | Gain | - |
| ZNF596 | - | - | - | - | 3 | Gain | - |
| ZNF615 | p.G361R | Missense | SNP | 0.411 | 2 | - | - |
| ZNF616 | p.T209Rfs*8 | Frame_Shift_Del | DEL | 0.522 | 2 | - | - |
| ZNF623 | - | - | - | - | 3 | Gain | - |
| ZNF687 | p.E930del | In_Frame_Del | DEL | 0.406 | 2 | - | - |
| ZNF696 | - | - | - | - | 3 | Gain | - |
| ZNF7 | - | - | - | - | 3 | Gain | - |
| ZNF701 | - | - | - | - | 1 | Loss | - |
| ZNF703 | p.A472T | Missense | SNP | 0.255 | 3 | Gain | - |
| ZNF704 | - | - | - | - | 3 | Gain | - |
| ZNF706 | - | - | - | - | 3 | Gain | - |
| ZNF707 | - | - | - | - | 3 | Gain | - |
| ZNF71 | p.R107H | Missense | SNP | 0.545 | 2 | - | - |
| ZNF710 | p.R386C | Missense | SNP | 0.532 | 2 | - | - |
| ZNF74 | p.A447T | Missense | SNP | 0.469 | 2 | - | - |
| ZNF777 | p.R566C | Missense | SNP | 0.392 | 2 | - | - |
| ZNF786 | p.R377C | Missense | SNP | 0.370 | 2 | - | - |
| ZNF792 | p.T222I | Missense | SNP | 0.442 | 2 | - | - |
| ZNF808 | - | - | - | - | 1 | Loss | - |
| ZNF813 | p.S108N | Missense | SNP | 0.472 | 2 | - | - |
| ZNF814 | p.K350Nfs*121 | Frame_Shift_Del | DEL | 0.278 | 2 | - | - |
| ZNF83 | - | - | - | - | 1 | Loss | - |
| ZNF865 | p.A462T p.S672L | Missense Missense | SNP SNP | 0.447 0.403 | 2 | - | - |
| ZNF880 | p.A332T | Missense | SNP | 0.412 | 2 | - | - |
| ZRANB1 | - | - | - | - | 4 | Gain | - |
| ZSCAN30 | - | - | - | - | 3 | Gain | - |
| ZSWIM4 | p.R679Q | Missense | SNP | 0.472 | 2 | - | - |
| ZSWIM8 | - | - | - | - | 4 | Gain | - |
| ZWINT | - | - | - | - | 4 | Gain | - |