| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | Called |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| A4GALT | - | - | - | - | 3 | Gain | - |
| AAR2 | - | - | - | - | 3 | Gain | - |
| AARD | - | - | - | - | 3 | Gain | - |
| AASDHPPT | - | - | - | - | 1 | Loss | - |
| ABAT | p.A304T | Missense | SNP | 0.473 | 2 | - | - |
| ABCA5 | p.A1145V | Missense | SNP | 0.415 | 2 | - | - |
| ABCA6 | p.W339* | Nonsense | SNP | 0.504 | 2 | - | - |
| ABCA7 | p.X194_splice | Splice_Site | SNP | 1.000 | 2 | - | - |
| ABCB1 | p.R1279C | Missense | SNP | 0.531 | 2 | - | - |
| ABCC10 | p.G944Wfs*88 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
| ABCC11 | p.S1075F | Missense | SNP | 0.614 | 2 | - | - |
| ABCC12 | p.M401R | Missense | SNP | 0.440 | 2 | - | - |
| ABCC3 | p.P623S | Missense | SNP | 0.551 | 2 | - | - |
| ABCC4 | - | - | - | - | 3 | Gain | - |
| ABCC5 | p.S1171F | Missense | SNP | 0.500 | 2 | - | - |
| ABCC8 | p.G561S | Missense | SNP | 0.359 | 2 | - | - |
| ABCC9 | p.E668D | Missense | SNP | 0.469 | 2 | - | - |
| ABCG1 | p.A539T | Missense | SNP | 0.444 | 2 | - | - |
| ABCG4 | - | - | - | - | 1 | Loss | - |
| ABHD13 | - | - | - | - | 3 | Gain | - |
| ABHD14A | - | - | - | - | 1 | Loss | - |
| ABHD14A-ACY1 | - | - | - | - | 1 | Loss | - |
| ABHD14B | - | - | - | - | 1 | Loss | - |
| ABHD16B | - | - | - | - | 1 | Loss | - |
| ABHD3 | p.V201A | Missense | SNP | 0.526 | 2 | - | - |
| ABHD5 | - | - | - | - | 1 | Loss | - |
| ABHD6 | - | - | - | - | 1 | Loss | - |
| ABI1 | - | - | - | - | 1 | Loss | - |
| ABLIM2 | p.D120Tfs*3 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
| ABRA | - | - | - | - | 3 | Gain | - |
| AC001226.2 | - | - | - | - | 3 | Gain | - |
| AC006059.2 | - | - | - | - | 1 | Loss | - |
| AC006254.1 | - | - | - | - | 1 | Loss | - |
| AC009879.2 | - | - | - | - | 3 | Gain | - |
| AC009879.3 | - | - | - | - | 3 | Gain | - |
| AC012213.5 | - | - | - | - | 3 | Gain | - |
| AC022384.1 | - | - | - | - | 1 | Loss | - |
| AC022826.2 | - | - | - | - | 3 | Gain | - |
| AC036214.3 | - | - | - | - | 3 | Gain | - |
| AC037459.1 | - | - | - | - | 1 | Loss | - |
| AC090004.1 | - | - | - | - | 1 | Loss | - |
| AC092042.3 | - | - | - | - | 1 | Loss | - |
| AC093668.2 | - | - | - | - | 1 | Loss | - |
| AC093668.3 | - | - | - | - | 1 | Loss | - |
| AC096887.1 | - | - | - | - | 1 | Loss | - |
| AC097634.4 | - | - | - | - | 1 | Loss | - |
| AC097636.1 | - | - | - | - | 1 | Loss | - |
| AC097637.1 | - | - | - | - | 1 | Loss | - |
| AC098650.1 | - | - | - | - | 1 | Loss | - |
| AC100868.1 | - | - | - | - | 3 | Gain | - |
| AC104304.1 | - | - | - | - | 1 | Loss | - |
| AC104452.1 | - | - | - | - | 1 | Loss | - |
| AC105052.1 | - | - | - | - | 1 | Loss | - |
| AC105052.3 | - | - | - | - | 1 | Loss | - |
| AC107959.5 | - | - | - | - | 1 | Loss | - |
| AC109583.3 | - | - | - | - | 1 | Loss | - |
| AC110275.1 | - | - | - | - | 1 | Loss | - |
| AC138647.1 | - | - | - | - | 3 | Gain | - |
| AC138696.1 | - | - | - | - | 3 | Gain | - |
| AC144573.1 | - | - | - | - | 1 | Loss | - |
| ACAA1 | - | - | - | - | 1 | Loss | - |
| ACACA | p.P663H | Missense | SNP | 0.404 | 2 | - | - |
| ACAD10 | p.L102Yfs*12 p.R588C p.G896W | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.514 0.456 0.397 | 2 | - | - |
| ACAD8 | - | - | - | - | 1 | Loss | - |
| ACAN | p.P36L p.G1870E | Missense Missense | SNP SNP | 0.436 0.432 | 2 | - | - |
| ACAT1 | - | - | - | - | 1 | Loss | - |
| ACBD5 | - | - | - | - | 1 | Loss | - |
| ACER2 | - | - | - | - | 1 | Loss | - |
| ACKR2 | - | - | - | - | 1 | Loss | - |
| ACMSD | p.K19Rfs*22 | Frame_Shift_Del | DEL | 0.377 | 2 | - | - |
| ACO1 | - | - | - | - | 1 | Loss | - |
| ACO2 | - | - | - | - | 3 | Gain | - |
| ACOD1 | - | - | - | - | 3 | Gain | - |
| ACOT12 | p.R457Q | Missense | SNP | 0.368 | 2 | - | - |
| ACOT8 | - | - | - | - | 3 | Gain | - |
| ACOX2 | - | - | - | - | 1 | Loss | - |
| ACRV1 | - | - | - | - | 1 | Loss | - |
| ACSM2A | p.E347K | Missense | SNP | 0.474 | 2 | - | - |
| ACSM3 | p.E564K | Missense | SNP | 0.406 | 2 | - | - |
| ACSS2 | p.R202Q p.F507I | Missense Missense | SNP SNP | 0.293 0.650 | 3 | Gain | - |
| ACTC1 | p.L348M p.W342* | Missense Nonsense | SNP SNP | 0.522 0.485 | 2 | - | - |
| ACTN3 | p.E558K | Missense | SNP | 0.328 | 2 | - | - |
| ACTN4 | p.D874Tfs*44 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
| ACTR5 | p.P266S | Missense | SNP | 0.368 | 3 | Gain | - |
| ACTR8 | - | - | - | - | 1 | Loss | - |
| ACVR2B | - | - | - | - | 1 | Loss | - |
| ACY1 | - | - | - | - | 1 | Loss | - |
| ADA | - | - | - | - | 3 | Gain | - |
| ADAL | p.R61K p.G204E | Missense Missense | SNP SNP | 0.493 0.464 | 2 | - | - |
| ADAM12 | p.G435E | Missense | SNP | 0.466 | 2 | - | - |
| ADAM18 | - | - | - | - | 1 | Loss | - |
| ADAM2 | - | - | - | - | 1 | Loss | - |
| ADAM28 | - | - | - | - | 1 | Loss | - |
| ADAM29 | p.S115F p.R311C | Missense Missense | SNP SNP | 0.457 0.436 | 2 | - | - |
| ADAM32 | - | - | - | - | 1 | Loss | - |
| ADAM7 | - | - | - | - | 1 | Loss | - |
| ADAM9 | - | - | - | - | 1 | Loss | - |
| ADAMDEC1 | - | - | - | - | 1 | Loss | - |
| ADAMTS10 | p.Q930* | Nonsense | SNP | 0.476 | 2 | - | - |
| ADAMTS12 | - | - | - | - | 4 | Gain | - |
| ADAMTS15 | - | - | - | - | 1 | Loss | - |
| ADAMTS16 | - | - | - | - | 4 | Gain | - |
| ADAMTS18 | p.C1139Y | Missense | SNP | 0.329 | 2 | - | - |
| ADAMTS3 | p.E912K | Missense | SNP | 0.473 | 2 | - | - |
| ADAMTS5 | p.Q768* | Nonsense | SNP | 1.000 | 2 | - | - |
| ADAMTS6 | p.H22Y | Missense | SNP | 0.442 | 2 | - | - |
| ADAMTS8 | - | - | - | - | 1 | Loss | - |
| ADAMTS9 | - | - | - | - | 1 | Loss | - |
| ADAMTSL1 | - | - | - | - | 1 | Loss | - |
| ADAMTSL2 | p.D564G p.E621K | Missense Missense | SNP SNP | 0.429 0.405 | 2 | - | - |
| ADCK5 | - | - | - | - | 3 | Gain | - |
| ADCY10 | p.E1490Gfs*53 | Frame_Shift_Ins | INS | 0.350 | 2 | - | - |
| ADCY2 | - | - | - | - | 4 | Gain | - |
| ADCY7 | p.R206Q | Missense | SNP | 0.402 | 2 | - | - |
| ADCY8 | p.L650F | Missense | SNP | 0.337 | 3 | Gain | - |
| ADGRA1 | p.P126S | Missense | SNP | 0.482 | 2 | - | - |
| ADGRA2 | - | - | - | - | 1 | Loss | - |
| ADGRA3 | p.P1087S | Missense | SNP | 0.485 | 2 | - | - |
| ADGRB1 | - | - | - | - | 3 | Gain | - |
| ADGRB3 | p.S13F p.L1200F p.R1452W | Missense Missense Missense | SNP SNP SNP | 0.458 0.611 0.594 | 2 | - | - |
| ADGRE1 | p.I333T | Missense | SNP | 0.477 | 2 | - | - |
| ADGRF5 | p.D495N | Missense | SNP | 0.477 | 2 | - | - |
| ADGRG4 | p.S1689F | Missense | SNP | 1.000 | ND | ND | - |
| ADGRL1 | p.P1309Lfs*224 | Frame_Shift_Del | DEL | 0.365 | 2 | - | - |
| ADGRV1 | p.P2024S | Missense | SNP | 0.540 | 2 | - | - |
| ADH1B | p.R313H | Missense | SNP | 0.487 | 2 | - | - |
| ADHFE1 | - | - | - | - | 3 | Gain | - |
| ADIG | - | - | - | - | 3 | Gain | - |
| ADM2 | - | - | - | - | 3 | Gain | - |
| ADNP | - | - | - | - | 3 | Gain | - |
| ADPRHL1 | - | - | - | - | 3 | Gain | - |
| ADRA1A | - | - | - | - | 1 | Loss | - |
| ADRB3 | - | - | - | - | 1 | Loss | - |
| ADRM1 | - | - | - | - | 1 | Loss | - |
| AEBP2 | p.P36L | Missense | SNP | 0.564 | 2 | - | - |
| AFM | p.L16Ffs*3 | Frame_Shift_Ins | INS | 0.177 | 2 | - | - |
| AGAP14P | p.T407A | Missense | SNP | 0.444 | ND | ND | - |
| AGO2 | - | - | - | - | 3 | Gain | - |
| AGPAT5 | - | - | - | - | 1 | Loss | - |
| AGTRAP | p.P16S | Missense | SNP | 0.445 | 2 | - | - |
| AGXT2 | - | - | - | - | 4 | Gain | - |
| AHCY | - | - | - | - | 3 | Gain | - |
| AHNAK2 | p.I3191M | Missense | SNP | 0.520 | 2 | - | - |
| AHRR | - | - | - | - | 3 | Gain | - |
| AIM1L | p.R1181H | Missense | SNP | 0.360 | ND | ND | - |
| AIP | p.T231M | Missense | SNP | 0.548 | 2 | - | - |
| AK3 | - | - | - | - | 1 | Loss | - |
| AK7 | p.P679L | Missense | SNP | 0.454 | 2 | - | - |
| AK8 | p.P479S | Missense | SNP | 1.000 | 2 | - | - |
| AKAP11 | - | - | - | - | 3 | Gain | - |
| AKAP6 | p.L11* | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
| AKAP7 | p.K79Rfs*21 | Frame_Shift_Del | DEL | 0.630 | 2 | - | - |
| AL109827.1 | - | - | - | - | 3 | Gain | - |
| AL117339.5 | - | - | - | - | 1 | Loss | - |
| AL121753.1 | - | - | - | - | 3 | Gain | - |
| AL121845.2 | - | - | - | - | 1 | Loss | - |
| AL121845.3 | - | - | - | - | 1 | Loss | - |
| AL133410.3 | - | - | - | - | 1 | Loss | - |
| AL138752.2 | - | - | - | - | 1 | Loss | - |
| AL162231.1 | - | - | - | - | 1 | Loss | - |
| AL162231.3 | - | - | - | - | 1 | Loss | - |
| AL162377.3 | - | - | - | - | 3 | Gain | - |
| AL359736.1 | - | - | - | - | 3 | Gain | - |
| AL359922.1 | - | - | - | - | 1 | Loss | - |
| AL512506.3 | - | - | - | - | 3 | Gain | - |
| AL513165.2 | - | - | - | - | 1 | Loss | - |
| AL592490.1 | - | - | - | - | 3 | Gain | - |
| ALAS1 | - | - | - | - | 1 | Loss | - |
| ALDH1B1 | - | - | - | - | 1 | Loss | - |
| ALDH1L2 | p.L300F | Missense | SNP | 0.466 | 2 | - | - |
| ALDH2 | p.C320W | Missense | SNP | 0.482 | 2 | - | - |
| ALG11 | - | - | - | - | 3 | Gain | - |
| ALG12 | - | - | - | - | 3 | Gain | - |
| ALG5 | - | - | - | - | 3 | Gain | - |
| ALG9 | - | - | - | - | 1 | Loss | - |
| ALK | p.K1109N | Missense | SNP | 0.521 | 2 | - | - |
| ALKAL1 | - | - | - | - | 3 | Gain | - |
| ALKBH8 | - | - | - | - | 1 | Loss | - |
| ALMS1 | p.G1199S | Missense | SNP | 0.500 | 2 | - | - |
| ALOX5AP | - | - | - | - | 3 | Gain | - |
| ALOXE3 | p.G750R | Missense | SNP | 0.341 | 2 | - | - |
| ALPK2 | p.A89V | Missense | SNP | 0.587 | 2 | - | - |
| ALS2CL | - | - | - | - | 1 | Loss | - |
| ALS2CR11 | p.V1745* p.M1339T | Frame_Shift_Del Missense | DEL SNP | 0.354 0.412 | ND | ND | - |
| AMACR | - | - | - | - | 4 | Gain | - |
| AMBRA1 | p.E468K | Missense | SNP | 0.556 | 2 | - | - |
| AMER2 | - | - | - | - | 3 | Gain | - |
| AMIGO3 | - | - | - | - | 1 | Loss | - |
| AMT | p.R371H | Missense | SNP | 1.000 | 1 | Loss | - |
| AMY1C | p.X334_splice | Splice_Site | SNP | 0.114 | 2 | - | - |
| ANAPC5 | p.L114Cfs*16 | Frame_Shift_Del | DEL | 0.489 | 2 | - | - |
| ANGPT1 | p.N191Tfs*4 | Frame_Shift_Del | DEL | 0.276 | 3 | Gain | - |
| ANGPT2 | - | - | - | - | 1 | Loss | - |
| ANGPT4 | p.G193S | Missense | SNP | 0.349 | 2 | - | - |
| ANK1 | - | - | - | - | 1 | Loss | - |
| ANK3 | p.I2751Yfs*21 p.Y861C | Frame_Shift_Del Missense | DEL SNP | 0.467 0.443 | 2 | - | - |
| ANKH | - | - | - | - | 4 | Gain | - |
| ANKK1 | - | - | - | - | 1 | Loss | - |
| ANKRA2 | p.R137K | Missense | SNP | 0.534 | 2 | - | - |
| ANKRD10 | - | - | - | - | 3 | Gain | - |
| ANKRD11 | p.P1747L | Missense | SNP | 0.461 | 2 | - | - |
| ANKRD18A | - | - | - | - | 1 | Loss | - |
| ANKRD18B | - | - | - | - | 1 | Loss | - |
| ANKRD26 | - | - | - | - | 1 | Loss | - |
| ANKRD28 | - | - | - | - | 1 | Loss | - |
| ANKRD30A | - | - | - | - | 1 | Loss | - |
| ANKRD33B | - | - | - | - | 4 | Gain | - |
| ANKRD35 | p.E876K | Missense | SNP | 0.431 | 2 | - | - |
| ANKRD36B | - | - | - | - | 1 | Loss | - |
| ANKRD36C | p.A623V | Missense | SNP | 0.538 | 2 | - | - |
| ANKRD46 | - | - | - | - | 3 | Gain | - |
| ANKRD50 | p.R236Q | Missense | SNP | 0.431 | 2 | - | - |
| ANKRD60 | - | - | - | - | 3 | Gain | - |
| ANKRD63 | p.G165N | Missense | MNP | 0.565 | 2 | - | - |
| ANLN | p.E151K | Missense | SNP | 0.558 | 2 | - | - |
| ANO10 | - | - | - | - | 1 | Loss | - |
| ANO2 | p.G966E | Missense | SNP | 0.514 | 2 | - | - |
| ANO5 | p.N64Ifs*27 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
| ANO6 | p.X24_splice | Splice_Site | SNP | 0.455 | 2 | - | - |
| ANXA13 | - | - | - | - | 3 | Gain | - |
| ANXA2R | - | - | - | - | 4 | Gain | - |
| AOC1 | p.H598Y | Missense | SNP | 0.481 | 2 | - | - |
| AP000646.1 | - | - | - | - | 1 | Loss | - |
| AP000769.1 | p.S6L | Missense | SNP | 0.561 | ND | ND | - |
| AP001267.5 | - | - | - | - | 1 | Loss | - |
| AP001781.2 | - | - | - | - | 1 | Loss | - |
| AP002373.1 | - | - | - | - | 1 | Loss | - |
| AP002884.3 | - | - | - | - | 1 | Loss | - |
| AP1S1 | p.D122Mfs*11 | Frame_Shift_Del | DEL | 0.915 | 2 | - | - |
| AP3M2 | - | - | - | - | 1 | Loss | - |
| AP5M1 | p.Y84F | Missense | SNP | 0.500 | 2 | - | - |
| APBA1 | p.S795R | Missense | SNP | 0.479 | 2 | - | - |
| APBB1 | p.R451C | Missense | SNP | 0.619 | 2 | - | - |
| APBB1IP | p.R485K | Missense | SNP | 0.837 | 1 | Loss | - |
| APC | p.P865S | Missense | SNP | 0.388 | 2 | - | - |
| APCDD1L | - | - | - | - | 3 | Gain | - |
| APEH | - | - | - | - | 1 | Loss | - |
| APLP1 | p.S339F p.R446C | Missense Missense | SNP SNP | 0.494 0.413 | 2 | - | - |
| APLP2 | - | - | - | - | 1 | Loss | - |
| APOA1 | - | - | - | - | 1 | Loss | - |
| APOA4 | - | - | - | - | 1 | Loss | - |
| APOA5 | - | - | - | - | 1 | Loss | - |
| APOC3 | - | - | - | - | 1 | Loss | - |
| APPBP2 | p.E466K | Missense | SNP | 0.429 | 2 | - | - |
| APPL1 | - | - | - | - | 1 | Loss | - |
| APTX | - | - | - | - | 1 | Loss | - |
| AQP3 | - | - | - | - | 1 | Loss | - |
| AQP7 | - | - | - | - | 1 | Loss | - |
| AR | p.D696N | Missense | SNP | 1.000 | ND | ND | - |
| ARAP1 | p.R1160C | Missense | SNP | 0.541 | 2 | - | - |
| ARC | - | - | - | - | 3 | Gain | - |
| ARCN1 | - | - | - | - | 1 | Loss | - |
| ARF4 | - | - | - | - | 1 | Loss | - |
| ARFGAP1 | - | - | - | - | 1 | Loss | - |
| ARFGAP2 | p.F92Sfs*9 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
| ARFGAP3 | - | - | - | - | 3 | Gain | - |
| ARFGEF1 | - | - | - | - | 3 | Gain | - |
| ARFGEF2 | - | - | - | - | 3 | Gain | - |
| ARFRP1 | - | - | - | - | 1 | Loss | - |
| ARGLU1 | p.E251del | In_Frame_Del | DEL | 0.075 | 3 | Gain | - |
| ARHGAP12 | - | - | - | - | 1 | Loss | - |
| ARHGAP20 | - | - | - | - | 1 | Loss | - |
| ARHGAP21 | - | - | - | - | 1 | Loss | - |
| ARHGAP24 | p.E705K | Missense | SNP | 0.612 | 2 | - | - |
| ARHGAP32 | - | - | - | - | 1 | Loss | - |
| ARHGAP33 | p.R551H | Missense | SNP | 0.500 | 2 | - | - |
| ARHGAP35 | p.S839L | Missense | SNP | 0.538 | 2 | - | - |
| ARHGAP36 | p.S212F | Missense | SNP | 1.000 | ND | ND | - |
| ARHGAP39 | p.S366Rfs*18 | Frame_Shift_Del | DEL | 0.329 | 3 | Gain | - |
| ARHGAP40 | - | - | - | - | 3 | Gain | - |
| ARHGAP8 | - | - | - | - | 3 | Gain | - |
| ARHGEF10 | - | - | - | - | 1 | Loss | - |
| ARHGEF10L | p.G552R | Missense | SNP | 0.486 | 2 | - | - |
| ARHGEF12 | - | - | - | - | 1 | Loss | - |
| ARHGEF15 | p.S630F | Missense | SNP | 0.647 | 2 | - | - |
| ARHGEF3 | - | - | - | - | 1 | Loss | - |
| ARHGEF39 | - | - | - | - | 1 | Loss | - |
| ARHGEF7 | - | - | - | - | 3 | Gain | - |
| ARID3C | - | - | - | - | 1 | Loss | - |
| ARIH2 | - | - | - | - | 1 | Loss | - |
| ARIH2OS | - | - | - | - | 1 | Loss | - |
| ARL11 | - | - | - | - | 3 | Gain | - |
| ARL6IP5 | - | - | - | - | 1 | Loss | - |
| ARL8B | - | - | - | - | 3 | Gain | - |
| ARMC1 | - | - | - | - | 3 | Gain | - |
| ARMC3 | p.G836R | Missense | SNP | 0.164 | 1 | Loss | - |
| ARMC4 | - | - | - | - | 1 | Loss | - |
| ARPC4 | - | - | - | - | 1 | Loss | - |
| ARPC4-TTLL3 | - | - | - | - | 1 | Loss | - |
| ARPP21 | - | - | - | - | 1 | Loss | - |
| ARSA | - | - | - | - | 3 | Gain | - |
| ASAH1 | - | - | - | - | 1 | Loss | - |
| ASAP1 | - | - | - | - | 3 | Gain | - |
| ASB14 | - | - | - | - | 1 | Loss | - |
| ASB17 | p.N177Tfs*7 | Frame_Shift_Del | DEL | 0.473 | 2 | - | - |
| ASB2 | p.C213G | Missense | SNP | 0.429 | 2 | - | - |
| ASH1L | p.T2895Qfs*44 p.H2315R p.S15F | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.425 0.416 0.467 | 2 | - | - |
| ASH2L | - | - | - | - | 1 | Loss | - |
| ASIC4 | p.E387K | Missense | SNP | 0.469 | 2 | - | - |
| ASIP | - | - | - | - | 3 | Gain | MRTFA--ASIP |
| ASPH | - | - | - | - | 3 | Gain | - |
| ASPM | p.A3335V | Missense | SNP | 0.436 | 2 | - | - |
| ASTN1 | p.G76R | Missense | SNP | 0.452 | 2 | - | - |
| ASXL3 | p.G587I p.E762K p.S1221F p.P1731S | Missense Missense Missense Missense | MNP SNP SNP SNP | 0.514 0.488 0.447 0.546 | 2 | - | - |
| ATAD2 | - | - | - | - | 3 | Gain | - |
| ATAD3A | p.P330L | Missense | SNP | 0.568 | 2 | - | - |
| ATF4 | p.M285Nfs*10 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
| ATG2A | p.P865S | Missense | SNP | 0.495 | 2 | - | - |
| ATG2B | p.E818D | Missense | SNP | 0.452 | 2 | - | - |
| ATG4C | p.E441K | Missense | SNP | 0.438 | 2 | - | - |
| ATG5 | p.D262N | Missense | SNP | 0.370 | 2 | - | - |
| ATG7 | - | - | - | - | 1 | Loss | - |
| ATM | - | - | - | - | 1 | Loss | - |
| ATP11A | - | - | - | - | 3 | Gain | - |
| ATP12A | - | - | - | - | 3 | Gain | - |
| ATP2A1 | p.R822Gfs*49 | Frame_Shift_Del | DEL | 0.877 | 2 | - | - |
| ATP2A3 | p.N796S | Missense | SNP | 0.589 | 2 | - | - |
| ATP2B2 | - | - | - | - | 1 | Loss | - |
| ATP4B | p.F285L | Missense | SNP | 0.532 | 3 | Gain | - |
| ATP5F1E | - | - | - | - | 11 | Amp | - |
| ATP5MG | - | - | - | - | 1 | Loss | - |
| ATP5MGL | - | - | - | - | 3 | Gain | - |
| ATP6V0D2 | - | - | - | - | 3 | Gain | - |
| ATP6V0E2 | p.G170R | Missense | SNP | 0.505 | 2 | - | - |
| ATP6V1B2 | - | - | - | - | 1 | Loss | - |
| ATP6V1C1 | - | - | - | - | 3 | Gain | - |
| ATP6V1E2 | p.K10Sfs*6 | Frame_Shift_Del | DEL | 0.383 | 2 | - | - |
| ATP6V1G1 | p.E39del | In_Frame_Del | DEL | 0.941 | 2 | - | - |
| ATP6V1H | - | - | - | - | 3 | Gain | - |
| ATP7B | - | - | - | - | 3 | Gain | - |
| ATP8A1 | p.R735W | Missense | SNP | 0.425 | 2 | - | - |
| ATP8A2 | p.G160D | Missense | SNP | 0.824 | 3 | Gain | - |
| ATP9A | - | - | - | - | 3 | Gain | - |
| ATP9B | p.C167W | Missense | SNP | 0.414 | 2 | - | - |
| ATRIP | - | - | - | - | 1 | Loss | - |
| ATRNL1 | p.Q881* | Nonsense | SNP | 0.542 | 2 | - | - |
| ATXN10 | p.S448F | Missense | SNP | 0.678 | 3 | Gain | - |
| ATXN7 | - | - | - | - | 1 | Loss | - |
| AURKA | - | - | - | - | 3 | Gain | - |
| AUTS2 | p.P1213L | Missense | SNP | 0.438 | 2 | - | - |
| AXDND1 | p.E791G | Missense | SNP | 0.478 | 2 | - | - |
| AZI2 | - | - | - | - | 1 | Loss | - |
| AZIN1 | - | - | - | - | 3 | Gain | - |
| B3GALT6 | p.R197Afs*81 | Frame_Shift_Del | DEL | 0.373 | 2 | - | - |
| B3GAT1 | - | - | - | - | 1 | Loss | - |
| B3GLCT | p.S68F | Missense | SNP | 0.675 | 3 | Gain | - |
| B4GALNT3 | p.Q917Sfs*9 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
| B4GALT1 | - | - | - | - | 1 | Loss | - |
| B4GALT5 | p.A62S | Missense | SNP | 0.315 | 3 | Gain | - |
| BAALC | - | - | - | - | 3 | Gain | - |
| BAAT | p.M1? | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
| BACE1 | - | - | - | - | 1 | Loss | - |
| BAG1 | - | - | - | - | 1 | Loss | - |
| BAG4 | - | - | - | - | 1 | Loss | - |
| BAMBI | - | - | - | - | 1 | Loss | - |
| BANK1 | p.E227D | Missense | SNP | 0.529 | 2 | - | - |
| BAP1 | - | - | - | - | 1 | Loss | - |
| BARX2 | - | - | - | - | 1 | Loss | - |
| BASP1 | - | - | - | - | 4 | Gain | - |
| BAZ1A | p.G578E | Missense | SNP | 0.478 | 2 | - | - |
| BCAS1 | - | - | - | - | 3 | Gain | - |
| BCAS4 | - | - | - | - | 3 | Gain | - |
| BCKDHA | p.S89P | Missense | SNP | 0.396 | 2 | - | - |
| BCL11B | p.S765L | Missense | SNP | 0.552 | 2 | - | - |
| BCL3 | p.K361Efs*16 p.L76P | Frame_Shift_Ins Missense | INS SNP | 0.359 0.526 | 2 | - | - |
| BCL9L | p.P449Lfs*14 | Frame_Shift_Del | DEL | 0.207 | 1 | Loss | - |
| BCO2 | - | - | - | - | 1 | Loss | - |
| BHLHE22 | - | - | - | - | 3 | Gain | - |
| BHLHE23 | - | - | - | - | 1 | Loss | - |
| BHLHE40 | - | - | - | - | 3 | Gain | - |
| BHLHE41 | p.R17G | Missense | SNP | 0.414 | 2 | - | - |
| BIK | - | - | - | - | 3 | Gain | - |
| BIN3 | - | - | - | - | 1 | Loss | - |
| BIRC7 | - | - | - | - | 1 | Loss | - |
| BIVM | - | - | - | - | 3 | Gain | - |
| BIVM-ERCC5 | - | - | - | - | 3 | Gain | - |
| BLCAP | - | - | - | - | 3 | Gain | - |
| BLID | - | - | - | - | 1 | Loss | - |
| BLK | - | - | - | - | 1 | Loss | - |
| BLM | p.V301Cfs*20 | Frame_Shift_Ins | INS | 0.291 | 2 | - | - |
| BMI1 | - | - | - | - | 1 | Loss | - |
| BMP1 | - | - | - | - | 1 | Loss | - |
| BMP15 | p.S280F | Missense | SNP | 1.000 | ND | ND | - |
| BMP5 | p.E357K | Missense | SNP | 0.506 | 2 | - | - |
| BMP7 | p.A395V | Missense | SNP | 0.315 | 3 | Gain | - |
| BNC2 | - | - | - | - | 1 | Loss | - |
| BNIP2 | p.P72S | Missense | SNP | 0.284 | 2 | - | - |
| BNIP3L | - | - | - | - | 1 | Loss | - |
| BOLL | p.G261E | Missense | SNP | 0.406 | 2 | - | - |
| BORA | - | - | - | - | 3 | Gain | - |
| BPI | p.L458F | Missense | SNP | 0.703 | 3 | Gain | - |
| BPIFB3 | p.T473I | Missense | SNP | 0.553 | 2 | - | - |
| BRCA2 | p.H334Y | Missense | SNP | 0.698 | 3 | Gain | - |
| BRD1 | - | - | - | - | 3 | Gain | - |
| BRD4 | p.P1175H | Missense | SNP | 0.541 | 2 | - | - |
| BRD9 | - | - | - | - | 4 | Gain | - |
| BRF1 | p.S293Rfs*11 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
| BRF2 | - | - | - | - | 1 | Loss | - |
| BRIX1 | - | - | - | - | 4 | Gain | - |
| BRK1 | - | - | - | - | 1 | Loss | - |
| BRPF1 | p.M745Wfs*48 | Frame_Shift_Del | DEL | 0.905 | 1 | Loss | - |
| BRPF3 | p.A1082V | Missense | SNP | 0.570 | 2 | - | - |
| BRSK2 | p.R401Gfs*4 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
| BRWD3 | p.L1332F | Missense | SNP | 1.000 | ND | ND | - |
| BSN | - | - | - | - | 1 | Loss | - |
| BSX | - | - | - | - | 1 | Loss | - |
| BTC | p.P167S | Missense | SNP | 0.436 | 2 | - | - |
| BTD | - | - | - | - | 1 | Loss | - |
| BTG4 | - | - | - | - | 1 | Loss | - |
| BTN2A1 | p.F463del p.I115F | In_Frame_Del Missense | DEL SNP | 0.465 0.417 | 2 | - | - |
| BTRC | p.R390C | Missense | SNP | 0.457 | 2 | - | - |
| BUD13 | - | - | - | - | 1 | Loss | - |
| C10orf113 | - | - | - | - | 1 | Loss | - |
| C10orf67 | - | - | - | - | 1 | Loss | - |
| C11orf1 | - | - | - | - | 1 | Loss | - |
| C11orf45 | - | - | - | - | 1 | Loss | - |
| C11orf52 | - | - | - | - | 1 | Loss | - |
| C11orf53 | - | - | - | - | 1 | Loss | - |
| C11orf65 | - | - | - | - | 1 | Loss | - |
| C11orf71 | - | - | - | - | 1 | Loss | - |
| C11orf87 | - | - | - | - | 1 | Loss | - |
| C11orf88 | - | - | - | - | 1 | Loss | - |
| C12orf42 | p.R19K | Missense | SNP | 0.450 | 2 | - | - |
| C16orf71 | p.E264* | Frame_Shift_Ins | INS | 0.282 | 2 | - | - |
| C16orf72 | p.E41Sfs*103 | Frame_Shift_Del | DEL | 0.361 | 2 | - | - |
| C19orf68 | p.G450R | Missense | SNP | 0.763 | ND | ND | - |
| C1orf141 | p.N225Ifs*23 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
| C1orf167 | p.A1067Sfs*55 | Frame_Shift_Ins | INS | 0.318 | 2 | - | - |
| C1orf228 | p.V399A | Missense | SNP | 0.486 | ND | ND | - |
| C1QA | p.P29L | Missense | MNP | 0.663 | 2 | - | - |
| C1QTNF3 | p.Y236H p.S233L | Missense Missense | SNP SNP | 0.229 0.734 | 4 | Gain | - |
| C1QTNF3-AMACR | - | - | - | - | 4 | Gain | - |
| C1QTNF4 | p.G168E | Missense | SNP | 0.550 | 2 | - | - |
| C1QTNF5 | - | - | - | - | 1 | Loss | - |
| C1QTNF9 | - | - | - | - | 3 | Gain | - |
| C1QTNF9B | - | - | - | - | 3 | Gain | - |
| C20orf173 | - | - | - | - | 3 | Gain | - |
| C20orf204 | - | - | - | - | 1 | Loss | - |
| C20orf85 | - | - | - | - | 3 | Gain | - |
| C22orf46 | - | - | - | - | 3 | Gain | - |
| C2CD2L | - | - | - | - | 1 | Loss | - |
| C2CD3 | p.K654Sfs*43 p.A565V | Frame_Shift_Del Missense | DEL SNP | 0.419 0.513 | 2 | - | - |
| C3 | p.G1394E | Missense | SNP | 0.562 | 2 | - | - |
| C3orf14 | - | - | - | - | 1 | Loss | - |
| C3orf18 | - | - | - | - | 1 | Loss | - |
| C3orf20 | - | - | - | - | 1 | Loss | - |
| C3orf49 | - | - | - | - | 1 | Loss | - |
| C3orf62 | - | - | - | - | 1 | Loss | - |
| C3orf67 | - | - | - | - | 1 | Loss | - |
| C3orf84 | - | - | - | - | 1 | Loss | - |
| C4B | p.V867I | Missense | SNP | 1.000 | 2 | - | - |
| C4BPB | p.W184* | Nonsense | SNP | 0.425 | 2 | - | - |
| C4orf26 | p.S131F | Missense | SNP | 0.462 | ND | ND | - |
| C5orf22 | - | - | - | - | 4 | Gain | - |
| C5orf34 | - | - | - | - | 4 | Gain | - |
| C5orf38 | - | - | - | - | 4 | Gain | - |
| C5orf49 | - | - | - | - | 4 | Gain | - |
| C5orf51 | p.X69_splice | Splice_Site | SNP | 0.198 | 4 | Gain | - |
| C6 | p.H830Y p.R145G | Missense Missense | SNP SNP | 0.725 0.133 | 4 | Gain | - |
| C6orf118 | p.E443K | Missense | SNP | 0.447 | 2 | - | - |
| C7 | - | - | - | - | 4 | Gain | - |
| C7orf31 | p.M211I | Missense | SNP | 0.571 | 2 | - | - |
| C8orf33 | - | - | - | - | 3 | Gain | - |
| C8orf34 | - | - | - | - | 3 | Gain | - |
| C8orf37 | - | - | - | - | 3 | Gain | - |
| C8orf44 | - | - | - | - | 3 | Gain | - |
| C8orf48 | - | - | - | - | 1 | Loss | - |
| C8orf58 | - | - | - | - | 1 | Loss | - |
| C8orf59 | - | - | - | - | 3 | Gain | - |
| C8orf74 | - | - | - | - | 1 | Loss | - |
| C8orf76 | - | - | - | - | 3 | Gain | - |
| C8orf82 | - | - | - | - | 3 | Gain | - |
| C8orf86 | - | - | - | - | 1 | Loss | - |
| C8orf88 | - | - | - | - | 3 | Gain | - |
| C8orf89 | - | - | - | - | 3 | Gain | - |
| C9 | - | - | - | - | 4 | Gain | - |
| C9orf131 | p.G579E | Missense | SNP | 1.000 | 1 | Loss | - |
| C9orf135 | p.D63N | Missense | SNP | 0.464 | 2 | - | - |
| C9orf24 | - | - | - | - | 1 | Loss | - |
| C9orf66 | - | - | - | - | 1 | Loss | - |
| C9orf72 | - | - | - | - | 1 | Loss | - |
| C9orf92 | - | - | - | - | 1 | Loss | - |
| CA1 | - | - | - | - | 3 | Gain | - |
| CA13 | - | - | - | - | 3 | Gain | - |
| CA2 | - | - | - | - | 3 | Gain | - |
| CA3 | - | - | - | - | 3 | Gain | - |
| CA8 | - | - | - | - | 3 | Gain | - |
| CA9 | - | - | - | - | 1 | Loss | - |
| CAAP1 | - | - | - | - | 1 | Loss | - |
| CAB39L | - | - | - | - | 3 | Gain | - |
| CABLES2 | - | - | - | - | 1 | Loss | - |
| CABS1 | p.S37Ifs*17 p.D84N | Frame_Shift_Ins Missense | INS SNP | 0.296 0.457 | 2 | - | - |
| CACNA1C | p.X780_splice | Splice_Site | SNP | 0.442 | 2 | - | - |
| CACNA1D | - | - | - | - | 1 | Loss | - |
| CACNA1H | p.A2240V | Missense | SNP | 0.507 | 2 | - | - |
| CACNA1I | p.T1279I | Missense | SNP | 0.438 | 2 | - | - |
| CACNA2D2 | - | - | - | - | 1 | Loss | - |
| CACNA2D3 | - | - | - | - | 1 | Loss | - |
| CACNB2 | p.G193E | Missense | SNP | 0.451 | 2 | - | - |
| CACNG6 | p.P209Rfs*21 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
| CACYBP | p.T226A | Missense | SNP | 0.500 | 2 | - | - |
| CAD | p.H2052R | Missense | SNP | 0.520 | 2 | - | - |
| CADM1 | - | - | - | - | 1 | Loss | - |
| CADPS | p.D806Ifs*10 | Frame_Shift_Del | DEL | 1.000 | 1 | Loss | - |
| CADPS2 | p.M1211I | Missense | SNP | 0.441 | 2 | - | - |
| CALB1 | - | - | - | - | 3 | Gain | - |
| CALCR | p.P394S | Missense | SNP | 0.465 | 2 | - | - |
| CAMK1 | - | - | - | - | 1 | Loss | - |
| CAMKV | - | - | - | - | 1 | Loss | - |
| CAMP | - | - | - | - | 1 | Loss | - |
| CAMTA2 | p.P889Lfs*9 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
| CAND2 | - | - | - | - | 1 | Loss | - |
| CANT1 | p.R300H | Missense | SNP | 0.530 | 2 | - | - |
| CAPN1 | p.E523* | Nonsense | SNP | 0.604 | 2 | - | - |
| CAPN6 | p.R444C | Missense | SNP | 1.000 | ND | ND | - |
| CAPN7 | - | - | - | - | 1 | Loss | - |
| CAPSL | - | - | - | - | 4 | Gain | - |
| CARD16 | - | - | - | - | 1 | Loss | - |
| CARD17 | - | - | - | - | 1 | Loss | - |
| CARD18 | - | - | - | - | 1 | Loss | - |
| CARD6 | - | - | - | - | 4 | Gain | - |
| CARMIL2 | p.F67I | Missense | SNP | 0.433 | 2 | - | - |
| CARS2 | - | - | - | - | 3 | Gain | - |
| CASC10 | - | - | - | - | 1 | Loss | - |
| CASP1 | - | - | - | - | 1 | Loss | - |
| CASS4 | - | - | - | - | 3 | Gain | - |
| CATSPER1 | p.P93S | Missense | SNP | 0.564 | 2 | - | - |
| CATSPER3 | p.F66Lfs*10 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| CATSPERB | p.Q723* | Nonsense | SNP | 0.566 | 2 | - | - |
| CAV3 | - | - | - | - | 1 | Loss | - |
| CBL | - | - | - | - | 1 | Loss | - |
| CBLN4 | - | - | - | - | 3 | Gain | - |
| CBR1 | p.K146N | Missense | SNP | 0.431 | 2 | - | - |
| CBSL | - | - | - | - | 1 | Loss | - |
| CBWD1 | - | - | - | - | 1 | Loss | - |
| CBWD3 | - | - | - | - | 1 | Loss | - |
| CBWD5 | - | - | - | - | 1 | Loss | - |
| CBWD6 | - | - | - | - | 1 | Loss | - |
| CBX2 | p.R161W | Missense | SNP | 0.559 | 2 | - | - |
| CBX4 | p.P458S | Missense | SNP | 0.431 | 2 | - | - |
| CC2D1A | p.A814T | Missense | SNP | 0.539 | 2 | - | - |
| CC2D2A | p.P612L p.E631K | Missense Missense | SNP SNP | 0.506 0.543 | 2 | - | - |
| CCAR2 | - | - | - | - | 1 | Loss | - |
| CCDC107 | - | - | - | - | 1 | Loss | - |
| CCDC112 | p.S439F | Missense | SNP | 0.481 | 2 | - | - |
| CCDC12 | - | - | - | - | 1 | Loss | - |
| CCDC122 | - | - | - | - | 3 | Gain | - |
| CCDC127 | p.P8S | Missense | SNP | 0.693 | 3 | Gain | - |
| CCDC129 | p.G203E | Missense | SNP | 0.403 | ND | ND | - |
| CCDC13 | - | - | - | - | 1 | Loss | - |
| CCDC134 | p.F95L | Missense | SNP | 0.309 | 3 | Gain | - |
| CCDC148 | p.I418* | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
| CCDC15 | - | - | - | - | 1 | Loss | - |
| CCDC152 | p.R251H | Missense | SNP | 0.686 | 4 | Gain | - |
| CCDC153 | - | - | - | - | 1 | Loss | - |
| CCDC166 | - | - | - | - | 3 | Gain | - |
| CCDC168 | p.E6232K p.R3382K | Missense Missense | SNP SNP | 0.318 0.603 | 3 | Gain | - |
| CCDC169 | - | - | - | - | 3 | Gain | - |
| CCDC169-SOHLH2 | - | - | - | - | 3 | Gain | - |
| CCDC171 | - | - | - | - | 1 | Loss | - |
| CCDC174 | - | - | - | - | 1 | Loss | - |
| CCDC175 | p.M765I | Missense | SNP | 0.401 | 2 | - | - |
| CCDC188 | p.G114K | Missense | MNP | 0.406 | 2 | - | - |
| CCDC25 | - | - | - | - | 1 | Loss | - |
| CCDC36 | - | - | - | - | 1 | Loss | - |
| CCDC47 | p.R443* | Nonsense | SNP | 0.502 | 2 | - | - |
| CCDC51 | - | - | - | - | 1 | Loss | - |
| CCDC66 | - | - | - | - | 1 | Loss | - |
| CCDC7 | - | - | - | - | 1 | Loss | - |
| CCDC70 | - | - | - | - | 3 | Gain | - |
| CCDC71 | - | - | - | - | 1 | Loss | - |
| CCDC84 | - | - | - | - | 1 | Loss | - |
| CCDC88C | p.S1852Afs*213 | Frame_Shift_Del | DEL | 0.523 | 2 | - | - |
| CCIN | - | - | - | - | 1 | Loss | - |
| CCK | - | - | - | - | 1 | Loss | - |
| CCKBR | p.L344Cfs*35 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
| CCL19 | - | - | - | - | 1 | Loss | - |
| CCL20 | p.S28Kfs*4 | Frame_Shift_Ins | INS | 0.298 | 2 | - | - |
| CCL21 | - | - | - | - | 1 | Loss | - |
| CCL27 | - | - | - | - | 1 | Loss | - |
| CCL28 | - | - | - | - | 4 | Gain | - |
| CCNA1 | - | - | - | - | 3 | Gain | - |
| CCNB3 | p.R1083K | Missense | SNP | 1.000 | ND | ND | - |
| CCNE2 | - | - | - | - | 3 | Gain | - |
| CCNT1 | p.S715P | Missense | SNP | 0.404 | 2 | - | - |
| CCNY | - | - | - | - | 1 | Loss | - |
| CCR1 | - | - | - | - | 1 | Loss | - |
| CCR2 | - | - | - | - | 1 | Loss | - |
| CCR3 | - | - | - | - | 1 | Loss | - |
| CCR4 | - | - | - | - | 1 | Loss | - |
| CCR5 | - | - | - | - | 1 | Loss | - |
| CCR8 | - | - | - | - | 1 | Loss | - |
| CCR9 | - | - | - | - | 1 | Loss | - |
| CCRL2 | - | - | - | - | 1 | Loss | - |
| CCT5 | - | - | - | - | 4 | Gain | - |
| CD1D | p.E20* | Nonsense | SNP | 0.443 | 2 | - | - |
| CD274 | - | - | - | - | 1 | Loss | - |
| CD3D | - | - | - | - | 1 | Loss | - |
| CD3E | - | - | - | - | 1 | Loss | - |
| CD3EAP | p.N220Ifs*4 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
| CD3G | - | - | - | - | 1 | Loss | - |
| CD40 | - | - | - | - | 3 | Gain | - |
| CD72 | - | - | - | - | 1 | Loss | - |
| CDADC1 | - | - | - | - | 3 | Gain | - |
| CDC16 | - | - | - | - | 3 | Gain | - |
| CDC25A | - | - | - | - | 1 | Loss | - |
| CDC37L1 | - | - | - | - | 1 | Loss | - |
| CDC73 | p.P113S | Missense | SNP | 0.404 | 2 | - | - |
| CDCA2 | - | - | - | - | 1 | Loss | - |
| CDCA4 | p.E230K | Missense | SNP | 0.535 | 2 | - | - |
| CDCP1 | - | - | - | - | 1 | Loss | - |
| CDH10 | p.S527Qfs*14 | Frame_Shift_Ins | INS | 0.125 | 4 | Gain | - |
| CDH11 | p.X548_splice | Splice_Site | SNP | 0.505 | 2 | - | - |
| CDH12 | p.D429V | Missense | SNP | 0.222 | 4 | Gain | - |
| CDH15 | p.H513Tfs*9 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
| CDH17 | - | - | - | - | 3 | Gain | - |
| CDH18 | - | - | - | - | 4 | Gain | - |
| CDH2 | p.E861K | Missense | SNP | 0.493 | 2 | - | - |
| CDH22 | - | - | - | - | 3 | Gain | - |
| CDH23 | p.N536S | Missense | SNP | 0.502 | 2 | - | - |
| CDH26 | - | - | - | - | 1 | Loss | - |
| CDH4 | - | - | - | - | 1 | Loss | - |
| CDH6 | p.Y419* | Nonsense | SNP | 0.162 | 4 | Gain | - |
| CDH7 | p.L629Ffs*9 | Frame_Shift_Ins | INS | 0.269 | 2 | - | - |
| CDH9 | p.A485T | Missense | SNP | 0.714 | 4 | Gain | - |
| CDHR2 | p.R383Afs*51 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
| CDHR4 | - | - | - | - | 1 | Loss | - |
| CDK12 | p.I730del | In_Frame_Del | DEL | 0.434 | 2 | - | - |
| CDK18 | p.D340Mfs*59 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
| CDK8 | - | - | - | - | 3 | Gain | - |
| CDKN2A | p.P114L | Missense | SNP | 1.000 | 1 | Loss | - |
| CDKN2B | - | - | - | - | 1 | Loss | - |
| CDON | - | - | - | - | 1 | Loss | - |
| CDPF1 | - | - | - | - | 3 | Gain | - |
| CDX2 | - | - | - | - | 3 | Gain | - |
| CDYL | p.S526L | Missense | SNP | 0.624 | 2 | - | - |
| CEACAM18 | p.D237E | Missense | SNP | 0.578 | 2 | - | - |
| CEACAM20 | p.H61Y | Missense | SNP | 0.487 | 2 | - | - |
| CEACAM4 | p.S5Qfs*15 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
| CEBPB | - | - | - | - | 3 | Gain | - |
| CEBPD | - | - | - | - | 3 | Gain | - |
| CELF1 | p.C89Y | Missense | SNP | 0.562 | 2 | - | - |
| CELF5 | p.E415K | Missense | SNP | 0.521 | 2 | - | - |
| CELSR1 | p.R1643Q p.Q1273* | Missense Nonsense | SNP SNP | 0.346 0.285 | 3 | Gain | - |
| CELSR3 | - | - | - | - | 1 | Loss | - |
| CENPJ | - | - | - | - | 3 | Gain | - |
| CENPM | - | - | - | - | 3 | Gain | - |
| CENPN | p.R60C | Missense | SNP | 0.476 | 2 | - | - |
| CENPP | p.E48K | Missense | SNP | 0.433 | 2 | - | - |
| CEP164 | - | - | - | - | 1 | Loss | - |
| CEP192 | p.E1195K p.P2178S | Missense Missense | SNP SNP | 0.500 0.602 | 2 | - | - |
| CEP250 | - | - | - | - | 3 | Gain | - |
| CEP57 | p.K462R | Missense | SNP | 0.438 | 2 | - | - |
| CEP72 | - | - | - | - | 3 | Gain | - |
| CER1 | - | - | - | - | 1 | Loss | - |
| CERK | - | - | - | - | 3 | Gain | - |
| CFAP47 | p.S1555Ffs*14 p.Q2625Sfs*12 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.447 0.975 | ND | ND | - |
| CFAP54 | p.R1557Efs*19 p.K2593E | Frame_Shift_Del Missense | DEL SNP | 0.500 0.532 | 2 | - | - |
| CFAP61 | p.S919F | Missense | SNP | 0.426 | 2 | - | - |
| CFAP74 | p.Q950Pfs*52 | Frame_Shift_Ins | INS | 0.346 | 2 | - | - |
| CFHR3 | p.P214S | Missense | SNP | 0.493 | 2 | - | - |
| CFTR | p.P1205L | Missense | SNP | 0.604 | 2 | - | - |
| CGA | p.P95S | Missense | SNP | 0.554 | 2 | - | - |
| CHADL | - | - | - | - | 3 | Gain | - |
| CHAMP1 | - | - | - | - | 3 | Gain | - |
| CHCHD4 | - | - | - | - | 1 | Loss | - |
| CHCHD7 | - | - | - | - | 3 | Gain | - |
| CHD4 | p.R975H | Missense | SNP | 0.598 | 2 | - | - |
| CHD5 | p.D1382Y | Missense | SNP | 0.564 | 2 | - | - |
| CHD6 | - | - | - | - | 3 | Gain | - |
| CHD7 | p.T1497I | Missense | SNP | 0.632 | 3 | Gain | - |
| CHD9 | p.T582Nfs*6 | Frame_Shift_Ins | INS | 0.197 | 2 | - | - |
| CHDH | - | - | - | - | 1 | Loss | - |
| CHEK1 | - | - | - | - | 1 | Loss | - |
| CHGB | p.E211K | Missense | SNP | 0.459 | 2 | - | - |
| CHKB | - | - | - | - | 3 | Gain | - |
| CHKB-CPT1B | - | - | - | - | 3 | Gain | - |
| CHL1 | p.S89L p.P540S | Missense Missense | SNP SNP | 0.336 0.265 | 3 | Gain | - |
| CHMP4C | - | - | - | - | 3 | Gain | - |
| CHMP5 | - | - | - | - | 1 | Loss | - |
| CHMP7 | - | - | - | - | 1 | Loss | - |
| CHN1 | p.L297R | Missense | SNP | 0.494 | 2 | - | - |
| CHPF | p.R415H | Missense | SNP | 0.475 | 2 | - | - |
| CHRAC1 | - | - | - | - | 3 | Gain | - |
| CHRM3 | p.K567Rfs*31 p.M131I | Frame_Shift_Del Missense | DEL SNP | 0.536 0.574 | 2 | - | - |
| CHRNA2 | - | - | - | - | 1 | Loss | - |
| CHRNA4 | - | - | - | - | 1 | Loss | - |
| CHRNA6 | - | - | - | - | 1 | Loss | - |
| CHRNB3 | - | - | - | - | 1 | Loss | - |
| CHST11 | p.R133W | Missense | SNP | 0.397 | 2 | - | - |
| CHST7 | p.G361Rfs*15 | Frame_Shift_Del | DEL | 0.911 | ND | ND | - |
| CIB3 | p.L140* | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
| CIDEC | - | - | - | - | 1 | Loss | - |
| CISD3 | p.X17_splice;p.D17N | Splice_Site | MNP | 0.423 | 2 | - | - |
| CISH | - | - | - | - | 1 | Loss | - |
| CKAP2 | - | - | - | - | 3 | Gain | - |
| CKAP2L | p.E325K | Missense | SNP | 0.465 | 2 | - | - |
| CKMT2 | p.L383F | Missense | SNP | 0.524 | 2 | - | - |
| CLASP2 | - | - | - | - | 1 | Loss | - |
| CLCA1 | p.R209Dfs*7 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
| CLCN3 | p.F388Lfs*9 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
| CLCNKA | - | - | - | - | 1 | Loss | - |
| CLDN10 | - | - | - | - | 3 | Gain | - |
| CLDN23 | - | - | - | - | 1 | Loss | - |
| CLDN25 | - | - | - | - | 1 | Loss | - |
| CLDN9 | p.L180Sfs*196 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
| CLEC3B | - | - | - | - | 1 | Loss | - |
| CLIC5 | p.Q115P | Missense | SNP | 0.455 | 2 | - | - |
| CLMP | - | - | - | - | 1 | Loss | - |
| CLN5 | - | - | - | - | 3 | Gain | - |
| CLN6 | p.X181_splice | Splice_Site | SNP | 0.537 | 2 | - | - |
| CLN8 | - | - | - | - | 1 | Loss | - |
| CLPTM1L | - | - | - | - | 4 | Gain | - |
| CLTA | - | - | - | - | 1 | Loss | - |
| CLU | - | - | - | - | 1 | Loss | - |
| CLUH | p.X810_splice p.T315S | Splice_Site Missense | SNP SNP | 0.422 0.486 | 2 | - | - |
| CLVS1 | - | - | - | - | 3 | Gain | - |
| CLYBL | - | - | - | - | 3 | Gain | - |
| CMBL | p.P7S | Missense | SNP | 0.258 | 4 | Gain | - |
| CMC1 | - | - | - | - | 1 | Loss | - |
| CMTM6 | - | - | - | - | 1 | Loss | - |
| CMTM7 | - | - | - | - | 1 | Loss | - |
| CMTM8 | - | - | - | - | 1 | Loss | - |
| CNBD1 | p.R380* p.R386K | Nonsense Missense | SNP SNP | 0.709 0.536 | 3 | Gain | - |
| CNBD2 | - | - | - | - | 3 | Gain | - |
| CNGB3 | - | - | - | - | 3 | Gain | - |
| CNMD | - | - | - | - | 3 | Gain | - |
| CNOT10 | - | - | - | - | 1 | Loss | - |
| CNOT7 | - | - | - | - | 1 | Loss | - |
| CNTFR | - | - | - | - | 1 | Loss | - |
| CNTLN | - | - | - | - | 1 | Loss | - |
| CNTN3 | - | - | - | - | 1 | Loss | - |
| CNTN4 | - | - | - | - | 3 | Gain | - |
| CNTN5 | p.S379F | Missense | SNP | 0.484 | 2 | - | - |
| CNTN6 | p.G744D | Missense | SNP | 0.468 | 3 | Gain | - |
| CNTNAP1 | p.G322S | Missense | SNP | 0.574 | 2 | - | - |
| CNTNAP3 | - | - | - | - | 1 | Loss | - |
| CNTNAP3B | - | - | - | - | 1 | Loss | - |
| CNTNAP3C | - | - | - | - | 1 | Loss | - |
| CNTNAP4 | p.I442S | Missense | SNP | 0.479 | 2 | - | - |
| COG3 | - | - | - | - | 3 | Gain | - |
| COG6 | - | - | - | - | 3 | Gain | - |
| COIL | p.K196Rfs*13 | Frame_Shift_Del | DEL | 0.905 | 2 | - | - |
| COL11A1 | p.G451S | Missense | SNP | 0.436 | 2 | - | - |
| COL13A1 | p.X566_splice | Splice_Site | SNP | 0.539 | 2 | - | - |
| COL14A1 | - | - | - | - | 3 | Gain | - |
| COL15A1 | p.E435Sfs*25 | Frame_Shift_Del | DEL | 0.344 | 2 | - | - |
| COL20A1 | - | - | - | - | 1 | Loss | - |
| COL22A1 | p.G771E | Missense | SNP | 0.307 | 3 | Gain | - |
| COL24A1 | p.G873R p.A722V | Missense Missense | SNP SNP | 0.462 0.514 | 2 | - | - |
| COL25A1 | p.M519K | Missense | SNP | 0.556 | 2 | - | - |
| COL2A1 | p.P122S | Missense | SNP | 0.502 | 2 | - | - |
| COL3A1 | p.P1043S | Missense | SNP | 0.469 | 2 | - | - |
| COL4A1 | p.R476W | Missense | SNP | 0.433 | 3 | Gain | - |
| COL4A2 | p.G429E p.G1408R | Missense Missense | SNP SNP | 0.255 0.417 | 3 | Gain | - |
| COL4A3 | p.G880E | Missense | SNP | 0.516 | 2 | - | - |
| COL4A4 | p.P635S p.P78L | Missense Missense | SNP SNP | 0.625 0.527 | 2 | - | - |
| COL4A6 | p.G624R | Missense | SNP | 1.000 | ND | ND | - |
| COL6A3 | p.T818S | Missense | SNP | 0.321 | 2 | - | - |
| COL6A6 | p.R1295Q p.G1296E | Missense Missense | SNP SNP | 0.471 0.530 | 2 | - | - |
| COL7A1 | - | - | - | - | 1 | Loss | - |
| COL9A3 | - | - | - | - | 1 | Loss | - |
| COLCA2 | - | - | - | - | 1 | Loss | - |
| COLEC10 | - | - | - | - | 3 | Gain | - |
| COLQ | p.P203S | Missense | SNP | 1.000 | 1 | Loss | - |
| COMMD3 | - | - | - | - | 1 | Loss | - |
| COMMD3-BMI1 | - | - | - | - | 1 | Loss | - |
| COMMD5 | - | - | - | - | 3 | Gain | - |
| COMMD6 | - | - | - | - | 3 | Gain | - |
| COPS5 | - | - | - | - | 3 | Gain | - |
| COPZ1 | . | Splice_Site | SNP | 0.389 | 2 | - | - |
| COX6C | - | - | - | - | 5 | Amp | - |
| CPA2 | p.R240W | Missense | SNP | 0.475 | 2 | - | - |
| CPA6 | - | - | - | - | 3 | Gain | - |
| CPAMD8 | p.V684A | Missense | SNP | 0.417 | 2 | - | - |
| CPB2 | - | - | - | - | 3 | Gain | - |
| CPLANE1 | - | - | - | - | 4 | Gain | - |
| CPNE1 | - | - | - | - | 3 | Gain | - |
| CPNE3 | - | - | - | - | 3 | Gain | - |
| CPNE9 | - | - | - | - | 1 | Loss | - |
| CPQ | - | - | - | - | 3 | Gain | - |
| CPS1 | p.R1459Q | Missense | SNP | 0.511 | 2 | - | - |
| CPSF1 | - | - | - | - | 3 | Gain | - |
| CPT1B | - | - | - | - | 3 | Gain | - |
| CRB1 | p.G330E p.E1280V | Missense Missense | SNP SNP | 0.455 0.496 | 2 | - | - |
| CRBN | - | - | - | - | 3 | Gain | - |
| CREB3 | - | - | - | - | 1 | Loss | - |
| CREBBP | p.R1682H | Missense | SNP | 0.619 | 2 | - | - |
| CRELD1 | - | - | - | - | 1 | Loss | - |
| CRELD2 | - | - | - | - | 3 | Gain | - |
| CREM | - | - | - | - | 1 | Loss | - |
| CRH | - | - | - | - | 3 | Gain | - |
| CRISPLD1 | - | - | - | - | 3 | Gain | - |
| CROCC | p.D736N | Missense | SNP | 0.333 | 2 | - | - |
| CROCC2 | p.L996I | Missense | SNP | 0.479 | 2 | - | - |
| CRTAM | - | - | - | - | 1 | Loss | - |
| CRTAP | - | - | - | - | 1 | Loss | - |
| CRYAA2 | - | - | - | - | 1 | Loss | - |
| CRYAB | - | - | - | - | 1 | Loss | - |
| CRYBB3 | p.R72K | Missense | SNP | 0.483 | 2 | - | - |
| CSDC2 | - | - | - | - | 3 | Gain | - |
| CSE1L | - | - | - | - | 3 | Gain | - |
| CSGALNACT1 | - | - | - | - | 1 | Loss | - |
| CSGALNACT2 | p.Q37Pfs*3 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
| CSMD1 | p.R2808C p.T2488M p.S1071F | Missense Missense Missense | SNP SNP SNP | 1.000 1.000 1.000 | 1 | Loss | - |
| CSMD2 | p.P1130L | Missense | SNP | 0.446 | 2 | - | - |
| CSMD3 | p.R3695Q p.S3140F p.E2508K p.X1632_splice p.L761Y | Missense Missense Missense Splice_Site Missense | SNP SNP SNP SNP MNP | 0.343 0.289 0.366 0.317 0.629 | 3 | Gain | - |
| CSNK1A1L | - | - | - | - | 3 | Gain | - |
| CSPG5 | - | - | - | - | 1 | Loss | - |
| CSPP1 | - | - | - | - | 3 | Gain | - |
| CSRNP1 | - | - | - | - | 1 | Loss | - |
| CSTF1 | - | - | - | - | 3 | Gain | - |
| CTB-50L17.10 | p.P444L | Missense | SNP | 0.429 | ND | ND | - |
| CTBP2 | p.A716D | Missense | SNP | 0.556 | 2 | - | - |
| CTCFL | - | - | - | - | 3 | Gain | - |
| CTDP1 | p.G170K | Missense | MNP | 0.578 | 2 | - | - |
| CTDSPL | - | - | - | - | 1 | Loss | - |
| CTHRC1 | - | - | - | - | 3 | Gain | - |
| CTLA4 | p.L28Ffs*44 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
| CTNNB1 | - | - | - | - | 1 | Loss | - |
| CTNNBL1 | p.K463Nfs*57 | Frame_Shift_Del | DEL | 0.321 | 3 | Gain | - |
| CTNND1 | p.V739Gfs*10 | Frame_Shift_Del | DEL | 0.376 | 2 | - | - |
| CTNND2 | - | - | - | - | 4 | Gain | - |
| CTSA | - | - | - | - | 3 | Gain | - |
| CTSB | - | - | - | - | 1 | Loss | - |
| CTSZ | p.I302V | Missense | SNP | 0.905 | 11 | Amp | - |
| CUBN | p.L3199F p.S2028F p.A1202T p.C225V | Missense Missense Missense Missense | SNP SNP SNP MNP | 0.068 0.096 0.824 0.055 | 2 | - | - |
| CUL1 | p.A619V | Missense | SNP | 0.429 | 2 | - | - |
| CUL2 | - | - | - | - | 1 | Loss | - |
| CUL4A | - | - | - | - | 3 | Gain | - |
| CUL5 | - | - | - | - | 1 | Loss | - |
| CWF19L2 | - | - | - | - | 1 | Loss | - |
| CX3CR1 | - | - | - | - | 1 | Loss | - |
| CXCR5 | - | - | - | - | 1 | Loss | - |
| CXCR6 | - | - | - | - | 1 | Loss | - |
| CYB561D2 | - | - | - | - | 1 | Loss | - |
| CYB5R3 | - | - | - | - | 3 | Gain | - |
| CYB5RL | p.T129M | Missense | SNP | 0.458 | 2 | - | - |
| CYC1 | p.S93Qfs*26 | Frame_Shift_Ins | INS | 0.208 | 3 | Gain | - |
| CYHR1 | - | - | - | - | 3 | Gain | - |
| CYP11B1 | - | - | - | - | 3 | Gain | - |
| CYP11B2 | - | - | - | - | 3 | Gain | - |
| CYP24A1 | - | - | - | - | 3 | Gain | - |
| CYP27A1 | p.A30V | Missense | SNP | 0.627 | 2 | - | - |
| CYP2B6 | p.S207L | Missense | SNP | 0.570 | 2 | - | - |
| CYP2D6 | - | - | - | - | 3 | Gain | - |
| CYP2D7 | - | - | - | - | 3 | Gain | - |
| CYP2J2 | p.Q349* | Nonsense | SNP | 0.398 | 2 | - | - |
| CYP4F22 | p.V195I | Missense | SNP | 0.333 | 2 | - | - |
| CYP7A1 | - | - | - | - | 3 | Gain | - |
| CYP7B1 | - | - | - | - | 3 | Gain | - |
| CYP8B1 | - | - | - | - | 1 | Loss | - |
| CYSLTR2 | - | - | - | - | 3 | Gain | - |
| DAB2 | - | - | - | - | 4 | Gain | - |
| DACH1 | - | - | - | - | 3 | Gain | - |
| DACT2 | p.P252S | Missense | SNP | 0.471 | 2 | - | - |
| DAG1 | - | - | - | - | 1 | Loss | - |
| DAGLB | p.P589Lfs*43 | Frame_Shift_Del | DEL | 0.540 | 2 | - | - |
| DALRD3 | - | - | - | - | 1 | Loss | - |
| DAOA | - | - | - | - | 3 | Gain | - |
| DAP | - | - | - | - | 4 | Gain | - |
| DAPK1 | p.W305Gfs*7 | Frame_Shift_Del | DEL | 0.493 | 2 | - | - |
| DAZL | - | - | - | - | 1 | Loss | - |
| DBNDD2 | - | - | - | - | 3 | Gain | - |
| DCAF1 | - | - | - | - | 1 | Loss | - |
| DCAF10 | - | - | - | - | 1 | Loss | - |
| DCAF12 | - | - | - | - | 1 | Loss | - |
| DCAF12L2 | p.P240L | Missense | SNP | 1.000 | ND | ND | - |
| DCAF13 | - | - | - | - | 3 | Gain | - |
| DCAF4L2 | - | - | - | - | 3 | Gain | - |
| DCAF8L2 | p.G28R p.G319R | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
| DCDC1 | p.A730V | Missense | SNP | 0.457 | 2 | - | - |
| DCHS2 | p.M967I | Missense | SNP | 0.490 | 2 | - | - |
| DCLK1 | p.R389Q | Missense | SNP | 0.595 | 3 | Gain | - |
| DCLK3 | - | - | - | - | 1 | Loss | - |
| DCP1A | - | - | - | - | 1 | Loss | - |
| DCPS | - | - | - | - | 1 | Loss | - |
| DCSTAMP | p.T5I | Missense | SNP | 0.256 | 3 | Gain | - |
| DCT | - | - | - | - | 3 | Gain | - |
| DCTN2 | p.D206Rfs*2 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
| DCTN3 | - | - | - | - | 1 | Loss | - |
| DCTN4 | p.A168T | Missense | SNP | 0.376 | 2 | - | - |
| DCTN6 | - | - | - | - | 1 | Loss | - |
| DCUN1D2 | - | - | - | - | 3 | Gain | - |
| DDC | p.E173* | Nonsense | SNP | 0.500 | 2 | - | - |
| DDHD2 | - | - | - | - | 1 | Loss | - |
| DDOST | p.S101F | Missense | SNP | 0.468 | 2 | - | - |
| DDX10 | - | - | - | - | 1 | Loss | - |
| DDX25 | p.S28F | Missense | SNP | 1.000 | 1 | Loss | - |
| DDX27 | p.P648L | Missense | SNP | 0.324 | 3 | Gain | - |
| DDX4 | p.L704Efs*16 | Frame_Shift_Del | DEL | 0.392 | 2 | - | - |
| DDX43 | p.A62V | Missense | SNP | 0.423 | 2 | - | - |
| DDX50 | p.D55N | Missense | SNP | 0.390 | 2 | - | - |
| DDX51 | p.A63V | Missense | SNP | 0.514 | 2 | - | - |
| DDX53 | p.L262F | Missense | SNP | 0.989 | ND | ND | - |
| DDX58 | - | - | - | - | 1 | Loss | - |
| DDX6 | - | - | - | - | 1 | Loss | - |
| DECR1 | - | - | - | - | 3 | Gain | - |
| DEFA4 | - | - | - | - | 1 | Loss | - |
| DEFA5 | - | - | - | - | 1 | Loss | - |
| DEFA6 | - | - | - | - | 1 | Loss | - |
| DEFB1 | - | - | - | - | 1 | Loss | - |
| DEFB103A | - | - | - | - | 1 | Loss | - |
| DEFB103B | - | - | - | - | 1 | Loss | - |
| DEFB104A | - | - | - | - | 1 | Loss | - |
| DEFB104B | - | - | - | - | 1 | Loss | - |
| DEFB105A | - | - | - | - | 1 | Loss | - |
| DEFB105B | - | - | - | - | 1 | Loss | - |
| DEFB106A | - | - | - | - | 1 | Loss | - |
| DEFB106B | - | - | - | - | 1 | Loss | - |
| DEFB107A | - | - | - | - | 1 | Loss | - |
| DEFB107B | - | - | - | - | 1 | Loss | - |
| DEFB128 | p.N26I | Missense | SNP | 0.452 | 2 | - | - |
| DEFB134 | - | - | - | - | 1 | Loss | - |
| DEFB135 | - | - | - | - | 1 | Loss | - |
| DEFB136 | - | - | - | - | 1 | Loss | - |
| DEFB4A | - | - | - | - | 1 | Loss | - |
| DEFB4B | - | - | - | - | 1 | Loss | - |
| DENND3 | - | - | - | - | 3 | Gain | - |
| DENND4A | p.G1893R | Missense | SNP | 0.489 | 2 | - | - |
| DENND4C | - | - | - | - | 1 | Loss | - |
| DENND5A | p.E788K | Missense | SNP | 0.447 | 2 | - | - |
| DENND5B | p.L312I | Missense | SNP | 0.547 | 2 | - | - |
| DENND6A | - | - | - | - | 1 | Loss | - |
| DENND6B | p.P408L | Missense | SNP | 0.218 | 3 | Gain | - |
| DEPTOR | - | - | - | - | 3 | Gain | - |
| DERL1 | - | - | - | - | 3 | Gain | - |
| DESI1 | - | - | - | - | 3 | Gain | - |
| DGAT1 | - | - | - | - | 3 | Gain | - |
| DGKG | p.G268E | Missense | SNP | 0.333 | 2 | - | - |
| DGKH | p.F380L | Missense | SNP | 0.349 | 3 | Gain | - |
| DGKI | p.K941E | Missense | SNP | 0.498 | 2 | - | - |
| DHRS1 | p.P112S | Missense | SNP | 0.523 | 2 | - | - |
| DHRS12 | - | - | - | - | 3 | Gain | - |
| DHRS4 | p.P177L | Missense | SNP | 0.434 | 2 | - | - |
| DHX30 | - | - | - | - | 1 | Loss | - |
| DHX35 | - | - | - | - | 3 | Gain | - |
| DIAPH3 | - | - | - | - | 3 | Gain | - |
| DIDO1 | p.A422T | Missense | SNP | 1.000 | 1 | Loss | - |
| DIRAS2 | p.G194S | Missense | SNP | 0.548 | 2 | - | - |
| DIS3 | - | - | - | - | 3 | Gain | - |
| DISP1 | p.A1087V | Missense | SNP | 0.509 | 2 | - | - |
| DISP3 | p.L148P p.P345S | Missense Missense | SNP SNP | 0.489 0.408 | 2 | - | - |
| DIXDC1 | - | - | - | - | 1 | Loss | - |
| DKK4 | - | - | - | - | 1 | Loss | - |
| DLAT | - | - | - | - | 1 | Loss | - |
| DLC1 | p.R542K | Missense | SNP | 1.000 | 1 | Loss | - |
| DLEC1 | - | - | - | - | 1 | Loss | - |
| DLEU7 | - | - | - | - | 3 | Gain | - |
| DLG4 | p.L118P | Missense | SNP | 0.635 | 2 | - | - |
| DLGAP2 | - | - | - | - | 1 | Loss | - |
| DLGAP4 | - | - | - | - | 3 | Gain | - |
| DMAC1 | - | - | - | - | 1 | Loss | - |
| DMD | p.P3086L p.E2528K p.E1536K | Missense Missense Missense | SNP SNP SNP | 1.000 1.000 1.000 | ND | ND | - |
| DMRT1 | - | - | - | - | 1 | Loss | - |
| DMRT2 | - | - | - | - | 1 | Loss | - |
| DMRT3 | - | - | - | - | 1 | Loss | - |
| DMRTA1 | - | - | - | - | 1 | Loss | - |
| DMTN | - | - | - | - | 1 | Loss | - |
| DMXL1 | p.G2925S | Missense | SNP | 0.464 | 2 | - | - |
| DNAH1 | - | - | - | - | 1 | Loss | - |
| DNAH10 | p.G2514E p.D4216N | Missense Missense | SNP SNP | 0.571 0.583 | 2 | - | - |
| DNAH11 | p.P2680S | Missense | SNP | 0.489 | 2 | - | - |
| DNAH12 | - | - | - | - | 1 | Loss | - |
| DNAH2 | p.R1991C p.P3833L p.T4149N | Missense Missense Missense | SNP SNP SNP | 0.512 0.530 0.511 | 2 | - | - |
| DNAH3 | p.E2459K p.G2436E p.X1309_splice p.P303L p.V280M | Missense Missense Splice_Site Missense Missense | SNP SNP SNP SNP SNP | 0.506 0.532 0.426 0.458 0.625 | 2 | - | - |
| DNAH5 | p.G4490E | Missense | SNP | 0.244 | 4 | Gain | - |
| DNAH6 | p.R2028K p.G4000E | Missense Missense | SNP SNP | 0.350 0.395 | 2 | - | - |
| DNAH7 | p.A3007Pfs*6 p.E2144K | Frame_Shift_Del Missense | DEL SNP | 0.451 0.468 | 2 | - | - |
| DNAI1 | - | - | - | - | 1 | Loss | - |
| DNAJA1 | - | - | - | - | 1 | Loss | - |
| DNAJB5 | p.E5K | Missense | SNP | 1.000 | 1 | Loss | - |
| DNAJB7 | - | - | - | - | 3 | Gain | - |
| DNAJC1 | - | - | - | - | 1 | Loss | - |
| DNAJC15 | - | - | - | - | 3 | Gain | - |
| DNAJC16 | p.P161S p.E439K | Missense Missense | SNP SNP | 0.380 0.420 | 2 | - | - |
| DNAJC21 | - | - | - | - | 4 | Gain | - |
| DNAJC24 | p.I68Nfs*5 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
| DNAJC3 | p.P490L | Missense | SNP | 0.363 | 3 | Gain | - |
| DNAJC5 | - | - | - | - | 1 | Loss | - |
| DNAJC5B | - | - | - | - | 3 | Gain | - |
| DNAJC6 | p.D161E | Missense | SNP | 0.478 | 2 | - | - |
| DNAJC9 | p.W97* | Nonsense | SNP | 0.443 | 2 | - | - |
| DNASE1L3 | - | - | - | - | 1 | Loss | - |
| DNER | p.P102L | Missense | SNP | 0.364 | 2 | - | - |
| DNHD1 | p.L2370F | Missense | SNP | 0.543 | 2 | - | - |
| DNM1L | p.R416C | Missense | SNP | 0.523 | 2 | - | - |
| DNM2 | p.K577N | Missense | SNP | 0.442 | 2 | - | - |
| DNMBP | p.S146F | Missense | SNP | 0.432 | 2 | - | - |
| DNTTIP1 | - | - | - | - | 3 | Gain | - |
| DOCK2 | p.Q1412* p.X1461_splice | Nonsense Splice_Site | SNP SNP | 0.442 0.506 | 2 | - | - |
| DOCK3 | - | - | - | - | 1 | Loss | - |
| DOCK5 | - | - | - | - | 1 | Loss | - |
| DOCK8 | p.F1113Lfs*2 | Frame_Shift_Del | DEL | 0.911 | 1 | Loss | - |
| DOCK9 | - | - | - | - | 3 | Gain | - |
| DOK1 | p.L12Cfs*26 | Frame_Shift_Del | DEL | 0.556 | 2 | - | - |
| DOK2 | - | - | - | - | 1 | Loss | - |
| DOK5 | - | - | - | - | 3 | Gain | - |
| DOPEY2 | p.F847Lfs*7 | Frame_Shift_Del | DEL | 0.438 | ND | ND | - |
| DPAGT1 | - | - | - | - | 1 | Loss | - |
| DPCR1 | p.E603K p.G704E p.S1050L | Missense Missense Missense | SNP SNP SNP | 0.511 0.455 0.470 | ND | ND | - |
| DPH3 | - | - | - | - | 1 | Loss | - |
| DPM1 | - | - | - | - | 3 | Gain | - |
| DPP10 | p.R7H | Missense | SNP | 0.549 | 2 | - | - |
| DPP6 | p.R765K | Missense | SNP | 0.495 | 2 | - | - |
| DPY19L4 | - | - | - | - | 3 | Gain | - |
| DPYS | - | - | - | - | 3 | Gain | - |
| DPYSL2 | - | - | - | - | 1 | Loss | - |
| DRAM1 | p.V47I | Missense | SNP | 0.381 | 2 | - | - |
| DRD1 | p.K138Rfs*6 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
| DRD2 | - | - | - | - | 1 | Loss | - |
| DROSHA | - | - | - | - | 4 | Gain | - |
| DSC3 | p.S526L | Missense | SNP | 0.581 | 2 | - | - |
| DSCAM | p.E572Gfs*32 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
| DSCAML1 | - | - | - | - | 1 | Loss | - |
| DSCC1 | - | - | - | - | 3 | Gain | - |
| DSN1 | - | - | - | - | 3 | Gain | - |
| DSP | p.S2257L | Missense | SNP | 0.442 | 2 | - | - |
| DSPP | p.N952D | Missense | SNP | 0.616 | 2 | - | - |
| DST | p.K3804Nfs*2 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
| DUSP26 | - | - | - | - | 1 | Loss | - |
| DUSP4 | - | - | - | - | 1 | Loss | - |
| DUSP7 | - | - | - | - | 1 | Loss | - |
| DYNC1LI1 | - | - | - | - | 1 | Loss | - |
| DYNLRB1 | - | - | - | - | 3 | Gain | - |
| DYRK3 | p.T456I | Missense | SNP | 0.598 | 2 | - | - |
| DYX1C1 | p.I195* | Frame_Shift_Del | DEL | 0.371 | ND | ND | - |
| DZIP1 | - | - | - | - | 3 | Gain | - |
| E2F5 | - | - | - | - | 3 | Gain | - |
| EAF1 | - | - | - | - | 1 | Loss | - |
| EBAG9 | - | - | - | - | 3 | Gain | - |
| EBF2 | - | - | - | - | 1 | Loss | - |
| EBLN1 | - | - | - | - | 1 | Loss | - |
| EBLN2 | - | - | - | - | 1 | Loss | - |
| EBPL | p.F172Lfs*7 | Frame_Shift_Del | DEL | 0.640 | 3 | Gain | - |
| ECHS1 | p.A84Pfs*23 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
| EDEM1 | - | - | - | - | 3 | Gain | - |
| EDEM2 | - | - | - | - | 3 | Gain | - |
| EDN3 | - | - | - | - | 11 | Amp | - |
| EDNRB | - | - | - | - | 3 | Gain | - |
| EEF1A2 | - | - | - | - | 1 | Loss | - |
| EEF1AKMT1 | p.I43M | Missense | SNP | 0.536 | 2 | - | - |
| EEF1D | - | - | - | - | 3 | Gain | - |
| EFCAB1 | - | - | - | - | 3 | Gain | - |
| EFCAB6 | p.D113N | Missense | SNP | 0.371 | 3 | Gain | - |
| EFCAB8 | p.S1198F | Missense | SNP | 0.509 | 2 | - | - |
| EFHB | - | - | - | - | 1 | Loss | - |
| EFNA5 | p.E129K | Missense | SNP | 0.436 | 2 | - | - |
| EFNB2 | - | - | - | - | 3 | Gain | - |
| EFR3A | - | - | - | - | 3 | Gain | - |
| EGFL7 | p.R184Gfs*13 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
| EGFLAM | p.I41N | Missense | SNP | 0.238 | 4 | Gain | - |
| EGR3 | - | - | - | - | 1 | Loss | - |
| EHBP1L1 | p.T115M | Missense | SNP | 0.506 | 2 | - | - |
| EI24 | - | - | - | - | 1 | Loss | - |
| EIF1B | - | - | - | - | 1 | Loss | - |
| EIF2B2 | p.H188Y | Missense | SNP | 0.457 | 2 | - | - |
| EIF3D | p.P340L | Missense | SNP | 0.450 | 2 | - | - |
| EIF3E | - | - | - | - | 3 | Gain | - |
| EIF3H | - | - | - | - | 3 | Gain | - |
| EIF3J | p.E61Rfs*5 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
| EIF4E3 | - | - | - | - | 1 | Loss | - |
| EIF4EBP1 | - | - | - | - | 1 | Loss | - |
| EIF6 | - | - | - | - | 3 | Gain | - |
| ELAC1 | p.I332N | Missense | SNP | 0.416 | 2 | - | - |
| ELAVL2 | - | - | - | - | 1 | Loss | - |
| ELF1 | - | - | - | - | 3 | Gain | - |
| ELK1 | p.G424R | Missense | SNP | 1.000 | ND | ND | - |
| ELK3 | p.V176Rfs*14 | Frame_Shift_Ins | INS | 0.277 | 2 | - | - |
| ELMO2 | - | - | - | - | 3 | Gain | - |
| ELMOD1 | - | - | - | - | 1 | Loss | - |
| ELOC | - | - | - | - | 3 | Gain | - |
| ELP3 | - | - | - | - | 1 | Loss | - |
| ELP4 | p.V108A | Missense | SNP | 0.448 | 2 | - | - |
| ELP6 | - | - | - | - | 1 | Loss | - |
| EMC10 | p.A234G | Missense | SNP | 0.612 | 2 | - | - |
| EMC2 | - | - | - | - | 3 | Gain | - |
| EMC3 | - | - | - | - | 1 | Loss | - |
| EMILIN3 | - | - | - | - | 3 | Gain | - |
| EN2 | p.D244N | Missense | SNP | 0.477 | 2 | - | - |
| ENDOD1 | p.R432C | Missense | SNP | 0.606 | 2 | - | - |
| ENHO | - | - | - | - | 1 | Loss | - |
| ENKUR | - | - | - | - | 1 | Loss | - |
| ENO3 | p.S177F p.E219K | Missense Missense | SNP SNP | 0.482 0.424 | 2 | - | - |
| ENOX1 | - | - | - | - | 3 | Gain | - |
| ENPP2 | p.G528R | Missense | SNP | 0.310 | 3 | Gain | - |
| ENPP3 | p.R70L | Missense | SNP | 0.514 | 2 | - | - |
| ENTPD3 | - | - | - | - | 1 | Loss | - |
| ENTPD4 | - | - | - | - | 1 | Loss | - |
| ENY2 | - | - | - | - | 3 | Gain | - |
| EOGT | - | - | - | - | 1 | Loss | - |
| EOMES | - | - | - | - | 1 | Loss | - |
| EP300 | - | - | - | - | 3 | Gain | - |
| EPAS1 | p.P397H | Missense | SNP | 0.405 | 2 | - | - |
| EPB41L1 | - | - | - | - | 3 | Gain | - |
| EPB41L4B | p.L787F | Missense | SNP | 1.000 | 2 | - | - |
| EPB41L5 | p.R131C | Missense | SNP | 0.520 | 2 | - | - |
| EPC1 | - | - | - | - | 1 | Loss | - |
| EPHX2 | - | - | - | - | 1 | Loss | - |
| EPM2AIP1 | - | - | - | - | 1 | Loss | - |
| EPN1 | p.P386Lfs*142 | Frame_Shift_Del | DEL | 0.403 | 2 | - | - |
| EPPIN | - | - | - | - | 3 | Gain | - |
| EPPIN-WFDC6 | - | - | - | - | 3 | Gain | - |
| EPPK1 | - | - | - | - | 3 | Gain | - |
| EPSTI1 | - | - | - | - | 3 | Gain | - |
| EQTN | - | - | - | - | 1 | Loss | - |
| ERAP2 | p.Y184F | Missense | SNP | 0.423 | 2 | - | - |
| ERBB2 | p.D1012N | Missense | SNP | 0.480 | 2 | - | - |
| ERC2 | - | - | - | - | 1 | Loss | - |
| ERCC5 | p.A525T | Missense | SNP | 0.350 | 3 | Gain | - |
| ERGIC3 | - | - | - | - | 3 | Gain | - |
| ERI1 | - | - | - | - | 1 | Loss | - |
| ERICH1 | - | - | - | - | 1 | Loss | - |
| ERICH3 | p.T766Rfs*23 p.R66Q | Frame_Shift_Del Missense | DEL SNP | 0.373 0.302 | 2 | - | - |
| ERICH5 | - | - | - | - | 3 | Gain | - |
| ERICH6B | - | - | - | - | 3 | Gain | - |
| ERLIN2 | p.P97S | Missense | SNP | 1.000 | 1 | Loss | - |
| ERMP1 | - | - | - | - | 1 | Loss | - |
| ERO1A | p.M342Cfs*33 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| ESAM | - | - | - | - | 1 | Loss | - |
| ESCO2 | - | - | - | - | 1 | Loss | - |
| ESD | - | - | - | - | 3 | Gain | - |
| ESPL1 | p.D577N | Missense | SNP | 0.588 | 2 | - | - |
| ESR2 | p.P106S | Missense | SNP | 0.470 | 2 | - | - |
| ESRP1 | - | - | - | - | 3 | Gain | - |
| ESYT3 | p.P369F | Missense | MNP | 0.324 | 2 | - | - |
| ETF1 | p.A187V | Missense | SNP | 0.565 | 2 | - | - |
| ETNK2 | p.G290S | Missense | SNP | 0.488 | 2 | - | - |
| ETS1 | - | - | - | - | 1 | Loss | - |
| EVC2 | p.Q444H | Missense | SNP | 0.416 | 2 | - | - |
| EXOC3 | - | - | - | - | 3 | Gain | - |
| EXOC8 | p.K559Tfs*9 | Frame_Shift_Ins | INS | 0.268 | 2 | - | - |
| EXOG | - | - | - | - | 1 | Loss | - |
| EXOSC3 | - | - | - | - | 1 | Loss | - |
| EXOSC4 | - | - | - | - | 3 | Gain | - |
| EXOSC7 | - | - | - | - | 1 | Loss | - |
| EXOSC8 | - | - | - | - | 3 | Gain | - |
| EXPH5 | - | - | - | - | 1 | Loss | - |
| EXT1 | - | - | - | - | 3 | Gain | - |
| EXTL1 | p.V187A | Missense | SNP | 0.515 | 2 | - | - |
| EXTL3 | - | - | - | - | 1 | Loss | - |
| EYA1 | p.G194K | Missense | MNP | 0.380 | 3 | Gain | - |
| EYA2 | - | - | - | - | 3 | Gain | - |
| EYA4 | p.G359E | Missense | SNP | 0.523 | 2 | - | - |
| EYS | p.L2286F | Missense | SNP | 0.379 | 2 | - | - |
| F10 | - | - | - | - | 3 | Gain | - |
| F7 | - | - | - | - | 3 | Gain | - |
| F8 | p.E1101K | Missense | SNP | 1.000 | ND | ND | - |
| FAAP100 | p.C15Y | Missense | SNP | 0.447 | 2 | - | - |
| FABP12 | - | - | - | - | 3 | Gain | - |
| FABP4 | - | - | - | - | 3 | Gain | - |
| FABP5 | - | - | - | - | 3 | Gain | - |
| FABP9 | - | - | - | - | 3 | Gain | - |
| FAM107A | - | - | - | - | 1 | Loss | - |
| FAM110B | p.P216L | Missense | SNP | 0.336 | 3 | Gain | - |
| FAM118A | p.R78W | Missense | SNP | 0.610 | 3 | Gain | - |
| FAM118B | - | - | - | - | 1 | Loss | - |
| FAM124A | - | - | - | - | 3 | Gain | - |
| FAM135B | p.V1308I p.S1262C | Missense Missense | SNP SNP | 0.331 0.685 | 3 | Gain | - |
| FAM149A | p.T39A | Missense | SNP | 0.500 | 2 | - | - |
| FAM155A | - | - | - | - | 3 | Gain | - |
| FAM160B2 | - | - | - | - | 1 | Loss | - |
| FAM162B | p.P36S | Missense | SNP | 0.676 | 2 | - | - |
| FAM166B | - | - | - | - | 1 | Loss | - |
| FAM167A | - | - | - | - | 1 | Loss | - |
| FAM170A | p.G36E | Missense | SNP | 0.434 | 2 | - | - |
| FAM171A1 | p.R575K | Missense | SNP | 0.324 | 2 | - | - |
| FAM173B | - | - | - | - | 4 | Gain | - |
| FAM189A1 | p.*540Lext*74 | Nonstop | SNP | 0.494 | 2 | - | - |
| FAM189A2 | p.G179R | Missense | SNP | 0.483 | 2 | - | - |
| FAM198A | - | - | - | - | 1 | Loss | - |
| FAM19A1 | - | - | - | - | 1 | Loss | - |
| FAM19A4 | - | - | - | - | 1 | Loss | - |
| FAM19A5 | - | - | - | - | 3 | Gain | - |
| FAM205A | - | - | - | - | 1 | Loss | - |
| FAM205C | - | - | - | - | 1 | Loss | - |
| FAM208A | - | - | - | - | 1 | Loss | - |
| FAM209A | - | - | - | - | 3 | Gain | - |
| FAM209B | - | - | - | - | 3 | Gain | - |
| FAM210B | - | - | - | - | 3 | Gain | - |
| FAM214B | - | - | - | - | 1 | Loss | - |
| FAM216B | - | - | - | - | 3 | Gain | - |
| FAM217B | - | - | - | - | 1 | Loss | - |
| FAM219A | - | - | - | - | 1 | Loss | - |
| FAM221B | - | - | - | - | 1 | Loss | - |
| FAM240A | - | - | - | - | 1 | Loss | - |
| FAM243B | - | - | - | - | 1 | Loss | - |
| FAM26E | p.F246Lfs*75 | Frame_Shift_Del | DEL | 0.449 | ND | ND | - |
| FAM3D | - | - | - | - | 1 | Loss | - |
| FAM46C | p.R58W | Missense | SNP | 0.584 | ND | ND | - |
| FAM47A | p.K484N p.R361C | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
| FAM47B | p.E75K p.V638A | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
| FAM47C | p.P200Rfs*625 | Frame_Shift_Del | DEL | 0.933 | ND | ND | - |
| FAM49B | - | - | - | - | 3 | Gain | - |
| FAM65B | p.L772F | Missense | SNP | 0.442 | ND | ND | - |
| FAM69C | p.D141N;p.Q140H | Missense | MNP | 0.357 | 2 | - | - |
| FAM71F2 | p.R5K | Missense | SNP | 0.540 | 2 | - | - |
| FAM83A | p.S47Ffs*2 | Frame_Shift_Ins | INS | 0.373 | 3 | Gain | - |
| FAM83C | - | - | - | - | 3 | Gain | - |
| FAM83D | - | - | - | - | 3 | Gain | - |
| FAM83H | - | - | - | - | 3 | Gain | - |
| FAM84B | - | - | - | - | 3 | Gain | - |
| FAM86B1 | - | - | - | - | 1 | Loss | - |
| FAM91A1 | - | - | - | - | 3 | Gain | - |
| FAM92A | - | - | - | - | 3 | Gain | - |
| FAM95C | - | - | - | - | 1 | Loss | - |
| FANCD2 | - | - | - | - | 1 | Loss | - |
| FANCD2OS | - | - | - | - | 1 | Loss | - |
| FANCG | - | - | - | - | 1 | Loss | - |
| FAP | p.C23Y | Missense | SNP | 0.414 | 2 | - | - |
| FARP1 | - | - | - | - | 3 | Gain | - |
| FARP2 | p.G189C | Missense | SNP | 0.394 | 2 | - | - |
| FASN | p.L1353Sfs*20 p.R1180L | Frame_Shift_Del Missense | DEL SNP | 0.481 0.385 | 2 | - | - |
| FASTKD3 | - | - | - | - | 4 | Gain | - |
| FAT1 | p.N126Kfs*3 p.G4102R | Frame_Shift_Ins Missense | INS SNP | 0.274 0.454 | 2 | - | - |
| FAT2 | p.V2686Yfs*41 p.L1095Wfs*11 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.423 0.462 | 2 | - | - |
| FAT3 | p.P894L p.R3634H p.P4081S | Missense Missense Missense | SNP SNP SNP | 0.317 0.442 0.464 | 2 | - | - |
| FBLN1 | - | - | - | - | 3 | Gain | - |
| FBLN2 | - | - | - | - | 1 | Loss | - |
| FBLN5 | p.P216L | Missense | SNP | 0.509 | 2 | - | - |
| FBLN7 | p.H361Afs*125 | Frame_Shift_Ins | INS | 0.323 | 2 | - | - |
| FBN1 | p.G2199D p.F2107S | Missense Missense | SNP SNP | 0.512 0.515 | 2 | - | - |
| FBN3 | p.E1420K | Missense | SNP | 0.448 | 2 | - | - |
| FBXL2 | - | - | - | - | 1 | Loss | - |
| FBXL3 | - | - | - | - | 3 | Gain | - |
| FBXL6 | - | - | - | - | 3 | Gain | - |
| FBXL7 | - | - | - | - | 4 | Gain | - |
| FBXO10 | - | - | - | - | 1 | Loss | - |
| FBXO15 | p.R379I | Missense | SNP | 0.417 | 2 | - | - |
| FBXO16 | - | - | - | - | 1 | Loss | - |
| FBXO17 | p.F91Y | Missense | SNP | 0.480 | 2 | - | - |
| FBXO25 | - | - | - | - | 1 | Loss | - |
| FBXO3 | p.Y380H | Missense | SNP | 0.553 | 2 | - | - |
| FBXO32 | - | - | - | - | 3 | Gain | - |
| FBXO38 | p.M30T | Missense | SNP | 0.565 | 2 | - | - |
| FBXO39 | p.T335I | Missense | SNP | 0.523 | 2 | - | - |
| FBXO4 | - | - | - | - | 4 | Gain | - |
| FBXO43 | - | - | - | - | 3 | Gain | - |
| FBXW10 | p.G298R | Missense | SNP | 0.420 | 2 | - | - |
| FBXW12 | - | - | - | - | 1 | Loss | - |
| FCGBP | p.L4042I | Missense | SNP | 0.486 | 2 | - | - |
| FCN1 | p.R324W | Missense | SNP | 0.376 | 2 | - | - |
| FCRL5 | p.H788Mfs*6 p.R751C | Frame_Shift_Del Missense | DEL SNP | 0.400 0.448 | 2 | - | - |
| FDCSP | p.D33N | Missense | SNP | 0.491 | 2 | - | - |
| FDFT1 | - | - | - | - | 1 | Loss | - |
| FDX1 | - | - | - | - | 1 | Loss | - |
| FDXACB1 | - | - | - | - | 1 | Loss | - |
| FER1L5 | p.E1036K | Missense | SNP | 0.545 | 2 | - | - |
| FER1L6 | p.G588R | Missense | SNP | 0.664 | 3 | Gain | - |
| FERMT3 | p.G396R | Missense | SNP | 0.503 | 2 | - | - |
| FEZ1 | - | - | - | - | 1 | Loss | - |
| FEZF2 | - | - | - | - | 1 | Loss | - |
| FFAR2 | p.G300R | Missense | SNP | 0.594 | 2 | - | - |
| FGA | p.M858I | Missense | SNP | 0.521 | 2 | - | - |
| FGB | p.D346G | Missense | SNP | 0.467 | 2 | - | - |
| FGD3 | p.V297M | Missense | SNP | 0.420 | 2 | - | - |
| FGD5 | - | - | - | - | 1 | Loss | - |
| FGF10 | - | - | - | - | 4 | Gain | - |
| FGF14 | - | - | - | - | 3 | Gain | - |
| FGF17 | - | - | - | - | 1 | Loss | - |
| FGF20 | - | - | - | - | 1 | Loss | - |
| FGF9 | - | - | - | - | 3 | Gain | - |
| FGFR1 | - | - | - | - | 1 | Loss | - |
| FGFR4 | p.R758H | Missense | SNP | 0.458 | 2 | - | - |
| FGL1 | p.N182Ifs*21 | Frame_Shift_Del | DEL | 0.769 | 1 | Loss | - |
| FHIT | - | - | - | - | 1 | Loss | - |
| FIBCD1 | p.F350L | Missense | SNP | 0.475 | 2 | - | - |
| FILIP1L | p.K749Nfs*2 | Frame_Shift_Del | DEL | 0.488 | 2 | - | - |
| FITM2 | - | - | - | - | 3 | Gain | - |
| FKBP9 | p.L30M | Missense | SNP | 0.413 | 2 | - | - |
| FLG | p.S3580F | Missense | SNP | 0.525 | 2 | - | - |
| FLG2 | p.A818S p.H735Y | Missense Missense | SNP SNP | 0.440 0.455 | 2 | - | - |
| FLI1 | - | - | - | - | 1 | Loss | - |
| FLNB | - | - | - | - | 1 | Loss | - |
| FLT1 | - | - | - | - | 3 | Gain | - |
| FLT3 | - | - | - | - | 3 | Gain | - |
| FLYWCH1 | p.P4L | Missense | SNP | 0.607 | 2 | - | - |
| FMN1 | p.G218E | Missense | SNP | 0.550 | 2 | - | - |
| FMN2 | p.S747F | Missense | SNP | 0.476 | 2 | - | - |
| FNBP4 | p.T99I | Missense | SNP | 0.484 | 2 | - | - |
| FNDC11 | - | - | - | - | 1 | Loss | - |
| FNDC3A | - | - | - | - | 3 | Gain | - |
| FNTA | - | - | - | - | 1 | Loss | - |
| FOCAD | - | - | - | - | 1 | Loss | - |
| FOXD4L5 | - | - | - | - | 1 | Loss | - |
| FOXH1 | - | - | - | - | 3 | Gain | - |
| FOXL1 | p.G290N | Missense | MNP | 0.443 | 2 | - | - |
| FOXN2 | p.K107Nfs*60 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
| FOXO1 | - | - | - | - | 3 | Gain | - |
| FOXO6 | p.R463* | Nonsense | SNP | 0.453 | 2 | - | - |
| FOXP1 | - | - | - | - | 1 | Loss | - |
| FOXR1 | - | - | - | - | 1 | Loss | - |
| FOXRED1 | p.T435I | Missense | SNP | 0.993 | 1 | Loss | - |
| FOXS1 | p.T235M | Missense | SNP | 0.441 | 2 | - | - |
| FP565260.1 | - | - | - | - | 1 | Loss | - |
| FP565260.2 | - | - | - | - | 1 | Loss | - |
| FP565260.3 | - | - | - | - | 1 | Loss | - |
| FP565260.4 | - | - | - | - | 1 | Loss | - |
| FP565260.6 | - | - | - | - | 1 | Loss | - |
| FPGT-TNNI3K | p.T212S | Missense | SNP | 0.454 | 2 | - | - |
| FRAS1 | p.X3168_splice | Splice_Site | SNP | 0.429 | 2 | - | - |
| FREM1 | - | - | - | - | 1 | Loss | - |
| FREM2 | - | - | - | - | 3 | Gain | - |
| FREM3 | p.P67L | Missense | SNP | 0.570 | 2 | - | - |
| FRG2C | - | - | - | - | 1 | Loss | - |
| FRMD4B | - | - | - | - | 1 | Loss | - |
| FRMPD1 | - | - | - | - | 1 | Loss | - |
| FRY | - | - | - | - | 3 | Gain | - |
| FSBP | - | - | - | - | 3 | Gain | - |
| FSTL1 | p.D186N | Missense | SNP | 0.468 | 2 | - | - |
| FSTL4 | p.G790Vfs*6 p.Q530* | Frame_Shift_Del Nonsense | DEL SNP | 0.592 0.482 | 2 | - | - |
| FSTL5 | p.Q123Tfs*9 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
| FTSJ3 | p.R634C | Missense | SNP | 0.368 | 2 | - | - |
| FUCA1 | p.P236L | Missense | SNP | 0.478 | 2 | - | - |
| FUT10 | - | - | - | - | 1 | Loss | - |
| FXYD2 | - | - | - | - | 1 | Loss | - |
| FXYD6 | - | - | - | - | 1 | Loss | - |
| FXYD6-FXYD2 | - | - | - | - | 1 | Loss | - |
| FYB1 | - | - | - | - | 4 | Gain | - |
| FYCO1 | - | - | - | - | 1 | Loss | - |
| FZD3 | - | - | - | - | 1 | Loss | - |
| FZD6 | - | - | - | - | 3 | Gain | - |
| FZD8 | - | - | - | - | 1 | Loss | - |
| FZR1 | p.V178M | Missense | SNP | 0.453 | 2 | - | - |
| G3BP2 | p.R132C | Missense | SNP | 0.551 | 2 | - | - |
| GABPA | p.L406F | Missense | SNP | 1.000 | 2 | - | - |
| GABRA1 | p.P79L | Missense | SNP | 0.412 | 2 | - | - |
| GABRD | p.A441V | Missense | SNP | 0.562 | 2 | - | - |
| GABRG1 | p.G271R | Missense | SNP | 0.422 | 2 | - | - |
| GABRG2 | p.R344K | Missense | SNP | 0.489 | 2 | - | - |
| GAD2 | - | - | - | - | 1 | Loss | - |
| GADL1 | - | - | - | - | 1 | Loss | - |
| GAL3ST1 | p.K318N | Missense | SNP | 0.512 | 2 | - | - |
| GALNT15 | - | - | - | - | 1 | Loss | - |
| GALT | - | - | - | - | 1 | Loss | - |
| GAMT | p.R63Pfs*22 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
| GAREM2 | p.S576L | Missense | SNP | 0.487 | 2 | - | - |
| GAS2 | p.D111E p.E170K | Missense Missense | SNP SNP | 0.495 0.486 | 2 | - | - |
| GAS6 | - | - | - | - | 3 | Gain | - |
| GATA3 | p.F410L | Missense | SNP | 0.486 | 2 | - | - |
| GATA4 | - | - | - | - | 1 | Loss | - |
| GATA5 | - | - | - | - | 1 | Loss | - |
| GATD3B | - | - | - | - | 1 | Loss | - |
| GBA2 | - | - | - | - | 1 | Loss | - |
| GBE1 | - | - | - | - | 1 | Loss | - |
| GCNT7 | - | - | - | - | 3 | Gain | - |
| GDAP1 | - | - | - | - | 3 | Gain | - |
| GDAP1L1 | - | - | - | - | 3 | Gain | - |
| GDF5 | - | - | - | - | 3 | Gain | - |
| GDF6 | - | - | - | - | 3 | Gain | - |
| GDNF | p.A34V | Missense | SNP | 0.801 | 4 | Gain | - |
| GEM | - | - | - | - | 3 | Gain | - |
| GFAP | p.R36H | Missense | SNP | 0.443 | 2 | - | - |
| GFRA2 | - | - | - | - | 1 | Loss | - |
| GGACT | - | - | - | - | 3 | Gain | - |
| GGCX | p.S398F | Missense | SNP | 0.466 | 2 | - | - |
| GGH | - | - | - | - | 3 | Gain | - |
| GGT7 | - | - | - | - | 3 | Gain | - |
| GHR | - | - | - | - | 4 | Gain | - |
| GHRH | - | - | - | - | 3 | Gain | - |
| GHRL | - | - | - | - | 1 | Loss | - |
| GID8 | - | - | - | - | 1 | Loss | - |
| GIMAP6 | p.L115F | Missense | SNP | 0.441 | 2 | - | - |
| GIN1 | p.K49Sfs*15 | Frame_Shift_Del | DEL | 0.250 | 2 | - | - |
| GINS4 | - | - | - | - | 1 | Loss | - |
| GJD4 | - | - | - | - | 1 | Loss | - |
| GK5 | p.H172N | Missense | SNP | 0.413 | 2 | - | - |
| GLB1 | - | - | - | - | 1 | Loss | - |
| GLB1L2 | p.M326I | Missense | SNP | 1.000 | 1 | Loss | - |
| GLB1L3 | - | - | - | - | 1 | Loss | - |
| GLDC | - | - | - | - | 1 | Loss | - |
| GLI1 | p.G274Afs*6 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| GLI4 | - | - | - | - | 3 | Gain | - |
| GLIPR2 | - | - | - | - | 1 | Loss | - |
| GLIS3 | - | - | - | - | 1 | Loss | - |
| GLRA1 | p.D85N | Missense | SNP | 0.444 | 2 | - | - |
| GLRA2 | p.M254I | Missense | SNP | 1.000 | ND | ND | - |
| GLT8D1 | - | - | - | - | 1 | Loss | - |
| GLYCTK | - | - | - | - | 1 | Loss | - |
| GLYR1 | p.R381Afs*20 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
| GMEB2 | - | - | - | - | 1 | Loss | - |
| GML | - | - | - | - | 3 | Gain | - |
| GMPPB | - | - | - | - | 1 | Loss | - |
| GMPR | p.P49S | Missense | SNP | 0.424 | 2 | - | - |
| GNAI2 | - | - | - | - | 1 | Loss | - |
| GNAS | - | - | - | - | 3 | Gain | - |
| GNAT1 | - | - | - | - | 1 | Loss | - |
| GNB3 | p.S122F | Missense | SNP | 0.510 | 2 | - | - |
| GNE | - | - | - | - | 1 | Loss | - |
| GNG12 | p.T68Nfs*9 | Frame_Shift_Ins | INS | 0.281 | 2 | - | - |
| GNL3 | - | - | - | - | 1 | Loss | - |
| GNRH1 | - | - | - | - | 1 | Loss | - |
| GOLGA4 | p.A1738T | Missense | SNP | 1.000 | 1 | Loss | - |
| GOLGA7 | - | - | - | - | 1 | Loss | - |
| GOLGB1 | p.E1031K | Missense | SNP | 0.507 | 2 | - | - |
| GOLPH3 | - | - | - | - | 4 | Gain | - |
| GORASP1 | p.T425M | Missense | SNP | 1.000 | 1 | Loss | - |
| GOT1L1 | - | - | - | - | 1 | Loss | - |
| GP2 | p.G389W | Missense | SNP | 0.471 | 2 | - | - |
| GPAA1 | - | - | - | - | 3 | Gain | - |
| GPALPP1 | - | - | - | - | 3 | Gain | - |
| GPAT4 | - | - | - | - | 1 | Loss | - |
| GPATCH3 | p.F33S | Missense | SNP | 0.555 | 2 | - | - |
| GPC5 | - | - | - | - | 3 | Gain | - |
| GPC6 | - | - | - | - | 3 | Gain | - |
| GPD1L | - | - | - | - | 1 | Loss | - |
| GPHB5 | p.C36S | Missense | SNP | 0.500 | 2 | - | - |
| GPHN | p.L289Afs*59 | Frame_Shift_Ins | INS | 0.296 | 2 | - | - |
| GPIHBP1 | - | - | - | - | 3 | Gain | - |
| GPR12 | - | - | - | - | 3 | Gain | - |
| GPR15 | p.A224V | Missense | SNP | 0.509 | 2 | - | - |
| GPR156 | p.F612C | Missense | SNP | 0.513 | 2 | - | - |
| GPR158 | p.E804K | Missense | SNP | 0.247 | 1 | Loss | - |
| GPR179 | p.F613del | In_Frame_Del | DEL | 0.444 | 2 | - | - |
| GPR18 | p.L238del | In_Frame_Del | DEL | 0.298 | 3 | Gain | - |
| GPR180 | - | - | - | - | 3 | Gain | - |
| GPR183 | - | - | - | - | 3 | Gain | - |
| GPR20 | - | - | - | - | 3 | Gain | - |
| GPR27 | - | - | - | - | 1 | Loss | - |
| GPR52 | p.E248K | Missense | SNP | 0.451 | 2 | - | - |
| GPR62 | - | - | - | - | 1 | Loss | - |
| GPRC5D | p.D308N | Missense | SNP | 0.435 | 2 | - | - |
| GPRIN3 | p.N429K | Missense | SNP | 0.526 | 2 | - | - |
| GPT | - | - | - | - | 3 | Gain | - |
| GPX1 | - | - | - | - | 1 | Loss | - |
| GRAMD1B | - | - | - | - | 1 | Loss | - |
| GRAMD4 | - | - | - | - | 3 | Gain | - |
| GRASP | p.E214Rfs*141 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
| GREB1L | p.G2E p.E263K | Missense Missense | SNP SNP | 0.541 0.454 | 2 | - | - |
| GRHL2 | - | - | - | - | 3 | Gain | - |
| GRHPR | - | - | - | - | 1 | Loss | - |
| GRIA2 | p.P403S | Missense | SNP | 0.465 | 2 | - | - |
| GRIA4 | - | - | - | - | 1 | Loss | - |
| GRID1 | p.X666_splice | Splice_Site | SNP | 0.369 | 2 | - | - |
| GRID2 | p.M693I | Missense | SNP | 0.531 | 2 | - | - |
| GRIK1 | p.D370N | Missense | SNP | 1.000 | 2 | - | - |
| GRIK2 | p.N849Tfs*14 p.V766I | Frame_Shift_Del Missense | DEL SNP | 0.500 0.488 | 2 | - | - |
| GRIK3 | p.R9Q | Missense | SNP | 0.583 | 2 | - | - |
| GRIK4 | - | - | - | - | 1 | Loss | - |
| GRIN2A | p.P985L | Missense | SNP | 0.440 | 2 | - | - |
| GRINA | - | - | - | - | 3 | Gain | - |
| GRIP1 | p.P715S | Missense | SNP | 0.398 | 2 | - | - |
| GRIP2 | - | - | - | - | 1 | Loss | - |
| GRK1 | - | - | - | - | 3 | Gain | - |
| GRM1 | p.S1064Y p.A1156T | Missense Missense | SNP SNP | 0.409 0.492 | 2 | - | - |
| GRM2 | - | - | - | - | 1 | Loss | - |
| GRM7 | - | - | - | - | 1 | Loss | - |
| GRTP1 | - | - | - | - | 3 | Gain | - |
| GSDMC | - | - | - | - | 3 | Gain | - |
| GSDMD | - | - | - | - | 3 | Gain | - |
| GSG1 | p.R144Q | Missense | SNP | 0.444 | 2 | - | - |
| GSG1L2 | p.G285N | Missense | MNP | 0.471 | 2 | - | - |
| GSG2 | p.E347K | Missense | SNP | 0.497 | ND | ND | - |
| GSR | - | - | - | - | 1 | Loss | - |
| GSS | - | - | - | - | 3 | Gain | - |
| GSX1 | - | - | - | - | 3 | Gain | - |
| GTF2A2 | p.Q16R | Missense | SNP | 0.451 | 2 | - | - |
| GTF2E2 | - | - | - | - | 1 | Loss | - |
| GTF2F2 | - | - | - | - | 3 | Gain | - |
| GTF2IRD1 | p.E324K | Missense | SNP | 0.553 | 2 | - | - |
| GTF3A | - | - | - | - | 3 | Gain | - |
| GTF3C1 | p.S767Vfs*7 | Frame_Shift_Del | DEL | 0.614 | 2 | - | - |
| GTPBP2 | - | - | - | - | 2 | - | KRT14--GTPBP2 |
| GTSE1 | p.Y102H | Missense | SNP | 0.318 | 3 | Gain | - |
| GTSF1L | - | - | - | - | 3 | Gain | - |
| GUCY1A2 | - | - | - | - | 1 | Loss | - |
| GUCY1A3 | p.P60A | Missense | SNP | 0.389 | ND | ND | - |
| GUSB | - | - | - | - | 2 | - | RN7SL1--GUSB |
| GXYLT1 | p.H327Sfs*2 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
| GXYLT2 | - | - | - | - | 1 | Loss | - |
| H2AFX | - | - | - | - | 1 | Loss | - |
| H2BFS | - | - | - | - | 1 | Loss | - |
| HAAO | p.X27_splice | Splice_Site | SNP | 0.485 | 2 | - | - |
| HACD4 | - | - | - | - | 1 | Loss | - |
| HACL1 | - | - | - | - | 1 | Loss | - |
| HARBI1 | p.Y48N | Missense | SNP | 0.518 | 2 | - | - |
| HAS2 | - | - | - | - | 3 | Gain | - |
| HAUS6 | - | - | - | - | 1 | Loss | - |
| HCFC1R1 | p.M84* | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
| HCFC2 | p.P587L | Missense | SNP | 0.612 | 2 | - | - |
| HCN1 | - | - | - | - | 4 | Gain | - |
| HCN4 | p.A133T | Missense | SNP | 0.397 | 2 | - | - |
| HDAC10 | - | - | - | - | 3 | Gain | - |
| HDAC11 | - | - | - | - | 1 | Loss | - |
| HDAC2 | p.V12Sfs*20 | Frame_Shift_Del | DEL | 0.519 | 2 | - | - |
| HDAC7 | p.M808Wfs*12 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| HDAC9 | p.G197E | Missense | SNP | 0.426 | 2 | - | - |
| HDDC2 | p.Q131K | Missense | SNP | 0.440 | 2 | - | - |
| HEATR1 | p.H705Y | Missense | SNP | 0.510 | 2 | - | - |
| HEATR6 | p.S389F | Missense | SNP | 0.505 | 2 | - | - |
| HECA | p.G335Dfs*27 | Frame_Shift_Del | DEL | 0.534 | 2 | - | - |
| HEG1 | p.A89T | Missense | SNP | 0.649 | 2 | - | - |
| HELB | p.D1083N | Missense | SNP | 0.519 | 2 | - | - |
| HELQ | p.N271Mfs*3 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
| HELZ2 | - | - | - | - | 1 | Loss | - |
| HEMK1 | - | - | - | - | 1 | Loss | - |
| HEPACAM | - | - | - | - | 1 | Loss | - |
| HEPN1 | - | - | - | - | 1 | Loss | - |
| HERC2 | p.E1430Sfs*16 p.V2786M | Frame_Shift_Del Missense | DEL SNP | 0.375 0.524 | 2 | - | - |
| HESX1 | - | - | - | - | 1 | Loss | - |
| HEY1 | - | - | - | - | 3 | Gain | - |
| HEYL | p.D11N | Missense | SNP | 0.556 | 2 | - | - |
| HGH1 | - | - | - | - | 3 | Gain | - |
| HGSNAT | - | - | - | - | 1 | Loss | - |
| HHATL | - | - | - | - | 1 | Loss | - |
| HHLA1 | - | - | - | - | 3 | Gain | - |
| HHLA2 | p.S105P | Missense | SNP | 0.477 | 2 | - | - |
| HIC1 | p.G641R | Missense | SNP | 0.449 | 2 | - | - |
| HIC2 | p.A421T | Missense | SNP | 0.602 | 2 | - | - |
| HID1 | p.P442L | Missense | SNP | 0.436 | 2 | - | - |
| HINFP | - | - | - | - | 1 | Loss | - |
| HINT2 | - | - | - | - | 1 | Loss | - |
| HIPK4 | p.G409D | Missense | SNP | 0.557 | 2 | - | - |
| HIST1H3A | p.C111S | Missense | SNP | 0.382 | 2 | - | - |
| HIVEP1 | p.X14_splice | Splice_Site | SNP | 0.462 | 2 | - | - |
| HIVEP3 | p.T516I | Missense | SNP | 0.478 | 2 | - | - |
| HMBOX1 | - | - | - | - | 1 | Loss | - |
| HMBS | - | - | - | - | 1 | Loss | - |
| HMCN1 | p.D1229Y | Missense | SNP | 0.440 | 2 | - | - |
| HMGB1 | - | - | - | - | 3 | Gain | - |
| HMGCS1 | p.P170L | Missense | SNP | 0.709 | 4 | Gain | - |
| HMGN4 | p.G55E | Missense | SNP | 0.419 | 2 | - | - |
| HNF4A | - | - | - | - | 3 | Gain | - |
| HNF4G | - | - | - | - | 3 | Gain | - |
| HOMEZ | p.L376Yfs*14 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
| HOOK3 | - | - | - | - | 1 | Loss | - |
| HOXA3 | p.S190L | Missense | SNP | 0.580 | 2 | - | - |
| HR | - | - | - | - | 1 | Loss | - |
| HRCT1 | - | - | - | - | 1 | Loss | - |
| HRH1 | - | - | - | - | 1 | Loss | - |
| HRH3 | - | - | - | - | 1 | Loss | - |
| HS6ST3 | - | - | - | - | 3 | Gain | - |
| HSD11B2 | p.D323N | Missense | SNP | 0.509 | 2 | - | - |
| HSF1 | - | - | - | - | 3 | Gain | - |
| HSF2 | p.R71C | Missense | SNP | 0.422 | 2 | - | - |
| HSF4 | p.P323Afs*29 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
| HSPA8 | - | - | - | - | 1 | Loss | - |
| HSPB2 | - | - | - | - | 1 | Loss | - |
| HSPB2-C11orf52 | - | - | - | - | 1 | Loss | - |
| HSPH1 | - | - | - | - | 3 | Gain | - |
| HTD2 | - | - | - | - | 1 | Loss | - |
| HTR2A | - | - | - | - | 3 | Gain | - |
| HTR3A | - | - | - | - | 1 | Loss | - |
| HTR3B | - | - | - | - | 1 | Loss | - |
| HTR7 | p.L305F | Missense | SNP | 0.522 | 2 | - | - |
| HTRA4 | - | - | - | - | 1 | Loss | - |
| HTT | p.S1055L | Missense | SNP | 0.553 | 2 | - | - |
| HUWE1 | p.V4306A | Missense | SNP | 1.000 | ND | ND | - |
| HYAL1 | - | - | - | - | 1 | Loss | - |
| HYAL2 | - | - | - | - | 1 | Loss | - |
| HYAL3 | - | - | - | - | 1 | Loss | - |
| HYLS1 | - | - | - | - | 1 | Loss | - |
| HYOU1 | - | - | - | - | 1 | Loss | - |
| IBA57 | p.P68L | Missense | SNP | 0.378 | 2 | - | - |
| IBTK | p.X792_splice;p.E792K | Splice_Site | MNP | 0.457 | 2 | - | - |
| ICAM5 | p.S735F | Missense | SNP | 0.478 | 2 | - | - |
| ICE1 | - | - | - | - | 4 | Gain | - |
| IDO1 | - | - | - | - | 1 | Loss | - |
| IDO2 | - | - | - | - | 1 | Loss | - |
| IFFO1 | p.R375Gfs*47 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
| IFNA1 | - | - | - | - | 1 | Loss | - |
| IFNA10 | - | - | - | - | 1 | Loss | - |
| IFNA13 | - | - | - | - | 1 | Loss | - |
| IFNA14 | - | - | - | - | 1 | Loss | - |
| IFNA16 | - | - | - | - | 1 | Loss | - |
| IFNA17 | - | - | - | - | 1 | Loss | - |
| IFNA2 | - | - | - | - | 1 | Loss | - |
| IFNA21 | - | - | - | - | 1 | Loss | - |
| IFNA4 | - | - | - | - | 1 | Loss | - |
| IFNA5 | - | - | - | - | 1 | Loss | - |
| IFNA6 | - | - | - | - | 1 | Loss | - |
| IFNA7 | - | - | - | - | 1 | Loss | - |
| IFNA8 | - | - | - | - | 1 | Loss | - |
| IFNB1 | - | - | - | - | 1 | Loss | - |
| IFNE | - | - | - | - | 1 | Loss | - |
| IFNK | - | - | - | - | 1 | Loss | - |
| IFNW1 | - | - | - | - | 1 | Loss | - |
| IFRD2 | - | - | - | - | 1 | Loss | - |
| IFT122 | p.P918S | Missense | SNP | 0.522 | 2 | - | - |
| IFT46 | - | - | - | - | 1 | Loss | - |
| IFT52 | - | - | - | - | 3 | Gain | - |
| IFT74 | - | - | - | - | 1 | Loss | - |
| IFT81 | p.E356Rfs*5 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
| IGF2R | p.P857L | Missense | SNP | 0.457 | 2 | - | - |
| IGFBPL1 | - | - | - | - | 1 | Loss | - |
| IGKV1-16 | p.F105I | Missense | SNP | 0.564 | ND | ND | - |
| IGLV3-12 | p.P116L | Missense | SNP | 0.474 | ND | ND | - |
| IGSF10 | p.C33W | Missense | SNP | 0.400 | 2 | - | - |
| IGSF9B | - | - | - | - | 1 | Loss | - |
| IKBKB | - | - | - | - | 1 | Loss | - |
| IKZF1 | p.G141E | Missense | SNP | 0.506 | 2 | - | - |
| IL10RA | - | - | - | - | 1 | Loss | - |
| IL11RA | - | - | - | - | 1 | Loss | - |
| IL12B | p.S281R | Missense | SNP | 0.329 | 2 | - | - |
| IL16 | p.P499S | Missense | SNP | 0.522 | 2 | - | - |
| IL17RB | - | - | - | - | 1 | Loss | - |
| IL17RC | - | - | - | - | 1 | Loss | - |
| IL17RD | - | - | - | - | 1 | Loss | - |
| IL17RE | - | - | - | - | 1 | Loss | - |
| IL17REL | - | - | - | - | 3 | Gain | - |
| IL18 | - | - | - | - | 1 | Loss | - |
| IL1RAP | p.V466A | Missense | SNP | 0.446 | 2 | - | - |
| IL31RA | p.S744L | Missense | SNP | 0.462 | 2 | - | - |
| IL33 | - | - | - | - | 1 | Loss | - |
| IL4I1 | p.G118Afs*40 | Frame_Shift_Del | DEL | 0.456 | 2 | - | - |
| IL5RA | - | - | - | - | 3 | Gain | - |
| IL7 | - | - | - | - | 3 | Gain | - |
| IL7R | - | - | - | - | 4 | Gain | - |
| ILK | p.H172L | Missense | SNP | 0.409 | 2 | - | - |
| IMPA1 | - | - | - | - | 3 | Gain | - |
| IMPAD1 | - | - | - | - | 3 | Gain | - |
| IMPDH2 | - | - | - | - | 1 | Loss | - |
| IMPG2 | p.P237S | Missense | SNP | 0.398 | 2 | - | - |
| INF2 | p.S154F | Missense | SNP | 0.466 | 2 | - | - |
| ING1 | - | - | - | - | 3 | Gain | - |
| INKA1 | - | - | - | - | 1 | Loss | - |
| INO80D | p.M514Wfs*5 p.P233S | Frame_Shift_Del Missense | DEL SNP | 0.380 0.540 | 2 | - | - |
| INPP4A | p.R885C | Missense | SNP | 0.519 | 2 | - | - |
| INPP5D | p.P1033S | Missense | SNP | 0.498 | 2 | - | - |
| INSL4 | - | - | - | - | 1 | Loss | - |
| INSL5 | p.P78L | Missense | SNP | 0.369 | 2 | - | - |
| INSL6 | - | - | - | - | 1 | Loss | - |
| INTS10 | - | - | - | - | 1 | Loss | - |
| INTS6 | - | - | - | - | 3 | Gain | - |
| INTS8 | - | - | - | - | 3 | Gain | - |
| INTS9 | - | - | - | - | 1 | Loss | - |
| INVS | p.I447V | Missense | SNP | 1.000 | 2 | - | - |
| IP6K1 | - | - | - | - | 1 | Loss | - |
| IP6K2 | - | - | - | - | 1 | Loss | - |
| IPO5 | - | - | - | - | 3 | Gain | - |
| IPO9 | p.S634F | Missense | SNP | 0.337 | 2 | - | - |
| IPP | p.A517V | Missense | SNP | 0.562 | 2 | - | - |
| IPPK | p.G289D | Missense | SNP | 0.476 | 2 | - | - |
| IQANK1 | - | - | - | - | 3 | Gain | - |
| IQCF1 | - | - | - | - | 1 | Loss | - |
| IQCF2 | - | - | - | - | 1 | Loss | - |
| IQCF3 | - | - | - | - | 1 | Loss | - |
| IQCF5 | - | - | - | - | 1 | Loss | - |
| IQCF6 | - | - | - | - | 1 | Loss | - |
| IQGAP3 | p.Q1205Sfs*31 | Frame_Shift_Del | DEL | 0.373 | 2 | - | - |
| IQSEC1 | - | - | - | - | 1 | Loss | - |
| IQSEC3 | p.P666L | Missense | SNP | 0.359 | 2 | - | - |
| IRAK2 | - | - | - | - | 1 | Loss | - |
| IRF2BPL | p.A288V | Missense | SNP | 0.577 | 2 | - | - |
| IRF4 | p.R98W | Missense | SNP | 0.498 | 2 | - | - |
| IRS2 | - | - | - | - | 3 | Gain | - |
| IRX1 | - | - | - | - | 4 | Gain | - |
| IRX2 | - | - | - | - | 4 | Gain | - |
| IRX4 | p.S108L | Missense | SNP | 0.231 | 4 | Gain | - |
| IRX6 | p.G323E | Missense | SNP | 0.484 | 2 | - | - |
| ISG20L2 | p.L306F | Missense | SNP | 0.462 | 2 | - | - |
| ITCH | - | - | - | - | 3 | Gain | - |
| ITFG2 | p.G181C | Missense | SNP | 0.421 | 2 | - | - |
| ITGA9 | - | - | - | - | 1 | Loss | - |
| ITGAE | p.T435A | Missense | SNP | 0.468 | 2 | - | - |
| ITGAV | p.S190G | Missense | SNP | 0.590 | 2 | - | - |
| ITGB1 | - | - | - | - | 1 | Loss | - |
| ITGB3BP | p.L106W | Missense | SNP | 0.457 | 2 | - | - |
| ITGB4 | p.A315T | Missense | SNP | 0.490 | 2 | - | - |
| ITGBL1 | p.G213R | Missense | SNP | 0.662 | 3 | Gain | - |
| ITIH1 | - | - | - | - | 1 | Loss | - |
| ITIH3 | - | - | - | - | 1 | Loss | - |
| ITIH4 | - | - | - | - | 1 | Loss | - |
| ITK | p.G354E | Missense | SNP | 0.333 | 2 | - | - |
| ITM2B | - | - | - | - | 3 | Gain | - |
| ITPR1 | p.F662L | Missense | SNP | 0.611 | 3 | Gain | - |
| IWS1 | p.R547C | Missense | SNP | 0.489 | 2 | - | - |
| IZUMO3 | - | - | - | - | 1 | Loss | - |
| JAGN1 | - | - | - | - | 1 | Loss | - |
| JAK2 | - | - | - | - | 1 | Loss | - |
| JAK3 | p.S897N | Missense | SNP | 0.423 | 2 | - | - |
| JAKMIP1 | p.Q666* | Nonsense | SNP | 0.559 | 2 | - | - |
| JAM3 | - | - | - | - | 1 | Loss | - |
| JAML | - | - | - | - | 1 | Loss | - |
| JCAD | - | - | - | - | 1 | Loss | - |
| JHY | - | - | - | - | 1 | Loss | - |
| JOSD2 | p.*189Wext*? | Nonstop | SNP | 0.603 | 2 | - | - |
| JPH1 | - | - | - | - | 3 | Gain | - |
| JPH2 | - | - | - | - | 3 | Gain | - |
| JRK | - | - | - | - | 3 | Gain | - |
| KANK1 | - | - | - | - | 1 | Loss | - |
| KANSL1 | p.G204Vfs*2 | Frame_Shift_Del | DEL | 0.230 | 2 | - | - |
| KAT2B | - | - | - | - | 1 | Loss | - |
| KAT5 | p.R244H | Missense | SNP | 0.474 | 2 | - | - |
| KAT6A | - | - | - | - | 1 | Loss | - |
| KAT6B | p.P1759S | Missense | SNP | 0.470 | 2 | - | - |
| KATNAL1 | - | - | - | - | 3 | Gain | - |
| KAZN | p.L91F | Missense | SNP | 0.564 | 2 | - | - |
| KBTBD11 | - | - | - | - | 1 | Loss | - |
| KBTBD11-OT1 | - | - | - | - | 1 | Loss | - |
| KBTBD3 | - | - | - | - | 1 | Loss | - |
| KBTBD6 | - | - | - | - | 3 | Gain | - |
| KBTBD7 | - | - | - | - | 3 | Gain | - |
| KBTBD8 | - | - | - | - | 1 | Loss | - |
| KCNA4 | p.R240C | Missense | SNP | 0.568 | 2 | - | - |
| KCNB1 | - | - | - | - | 3 | Gain | - |
| KCNB2 | - | - | - | - | 3 | Gain | - |
| KCNC1 | p.S444F | Missense | SNP | 0.453 | 2 | - | - |
| KCNE1B | - | - | - | - | 1 | Loss | - |
| KCNG1 | - | - | - | - | 3 | Gain | - |
| KCNG2 | p.Q239H | Missense | SNP | 0.525 | 2 | - | - |
| KCNH6 | p.P867S | Missense | SNP | 0.504 | 2 | - | - |
| KCNH8 | - | - | - | - | 1 | Loss | - |
| KCNJ1 | - | - | - | - | 1 | Loss | - |
| KCNJ5 | p.T100A | Missense | SNP | 1.000 | 1 | Loss | - |
| KCNK15 | - | - | - | - | 3 | Gain | - |
| KCNK18 | p.M348I | Missense | SNP | 0.459 | 2 | - | - |
| KCNK5 | p.A221V | Missense | SNP | 0.514 | 2 | - | - |
| KCNK9 | - | - | - | - | 3 | Gain | - |
| KCNQ2 | - | - | - | - | 1 | Loss | - |
| KCNQ3 | p.G724Dfs*28 | Frame_Shift_Del | DEL | 0.599 | 3 | Gain | - |
| KCNRG | - | - | - | - | 3 | Gain | - |
| KCNS1 | - | - | - | - | 3 | Gain | - |
| KCNS2 | - | - | - | - | 3 | Gain | - |
| KCNT2 | p.S385R | Missense | SNP | 0.525 | 2 | - | - |
| KCNU1 | - | - | - | - | 1 | Loss | - |
| KCNV1 | - | - | - | - | 3 | Gain | - |
| KCNV2 | - | - | - | - | 1 | Loss | - |
| KCTD12 | - | - | - | - | 3 | Gain | - |
| KCTD4 | - | - | - | - | 3 | Gain | - |
| KCTD6 | - | - | - | - | 1 | Loss | - |
| KCTD9 | - | - | - | - | 1 | Loss | - |
| KDELC1 | - | - | - | - | 3 | Gain | - |
| KDELC2 | - | - | - | - | 1 | Loss | - |
| KDF1 | p.S137Afs*111 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
| KDM1A | p.K297Dfs*51 | Frame_Shift_Del | DEL | 0.554 | 2 | - | - |
| KDM4B | p.R329H | Missense | SNP | 0.455 | 2 | - | - |
| KDM4C | - | - | - | - | 1 | Loss | - |
| KDM4E | p.F258L | Missense | SNP | 0.611 | 2 | - | - |
| KHDRBS1 | p.A82S | Missense | SNP | 0.471 | 2 | - | - |
| KHDRBS2 | p.S87F | Missense | SNP | 0.485 | 2 | - | - |
| KHDRBS3 | p.S292G | Missense | SNP | 0.319 | 3 | Gain | - |
| KIAA0513 | p.F312Lfs*32 | Frame_Shift_Del | DEL | 0.613 | 2 | - | - |
| KIAA0922 | p.T1376I | Missense | SNP | 0.451 | ND | ND | - |
| KIAA0930 | - | - | - | - | 3 | Gain | - |
| KIAA1107 | p.R692K | Missense | SNP | 0.506 | ND | ND | - |
| KIAA1143 | - | - | - | - | 1 | Loss | - |
| KIAA1211 | p.V119A | Missense | SNP | 0.548 | 2 | - | - |
| KIAA1211L | p.S3F | Missense | SNP | 0.528 | 2 | - | - |
| KIAA1217 | - | - | - | - | 1 | Loss | - |
| KIAA1549 | p.R1106Q p.W420* | Missense Nonsense | SNP MNP | 0.538 0.521 | 2 | - | - |
| KIAA1551 | p.I93M p.P1659L | Missense Missense | SNP SNP | 0.445 0.503 | 2 | - | - |
| KIAA1614 | p.P50Qfs*15 | Frame_Shift_Del | DEL | 0.142 | 2 | - | - |
| KIAA1671 | p.P385S p.D1404N | Missense Missense | SNP SNP | 0.518 0.479 | 2 | - | - |
| KIAA1755 | p.P752Lfs*11 p.P4L | Frame_Shift_Del Missense | DEL SNP | 0.254 0.196 | 3 | Gain | - |
| KIAA2026 | - | - | - | - | 1 | Loss | - |
| KIF11 | p.R1051* | Nonsense | SNP | 0.504 | 2 | - | - |
| KIF13B | - | - | - | - | 1 | Loss | - |
| KIF15 | - | - | - | - | 1 | Loss | - |
| KIF16B | p.N274Kfs*3 | Frame_Shift_Ins | INS | 0.313 | 2 | - | - |
| KIF17 | p.E592Gfs*67 | Frame_Shift_Ins | INS | 0.296 | 2 | - | - |
| KIF20B | p.F1495Lfs*10 | Frame_Shift_Del | DEL | 0.594 | 2 | - | - |
| KIF21B | p.T1295M | Missense | SNP | 0.497 | 2 | - | - |
| KIF24 | - | - | - | - | 1 | Loss | - |
| KIF25 | p.Q352* | Nonsense | SNP | 0.462 | 2 | - | - |
| KIF2A | p.E237Rfs*8 | Frame_Shift_Ins | INS | 0.259 | 2 | - | - |
| KIF4B | p.R256C | Missense | SNP | 0.474 | 2 | - | - |
| KIF5A | p.T317A | Missense | SNP | 0.484 | 2 | - | - |
| KIF5B | - | - | - | - | 1 | Loss | - |
| KIF5C | p.S282N | Missense | SNP | 0.470 | 2 | - | - |
| KIF9 | - | - | - | - | 1 | Loss | - |
| KIFC2 | - | - | - | - | 3 | Gain | - |
| KIR3DL2 | p.R99C | Missense | SNP | 0.069 | 2 | - | - |
| KIRREL | p.P393L | Missense | SNP | 0.497 | ND | ND | - |
| KIRREL2 | p.G355S | Missense | SNP | 0.510 | 2 | - | - |
| KIRREL3 | - | - | - | - | 1 | Loss | - |
| KL | - | - | - | - | 3 | Gain | - |
| KLF10 | - | - | - | - | 3 | Gain | - |
| KLF11 | p.G346R p.T364I | Missense Missense | SNP SNP | 0.508 0.413 | 2 | - | - |
| KLF12 | - | - | - | - | 3 | Gain | - |
| KLF5 | - | - | - | - | 3 | Gain | - |
| KLHDC7B | - | - | - | - | 3 | Gain | - |
| KLHDC8B | - | - | - | - | 1 | Loss | - |
| KLHL1 | p.W727* | Nonsense | SNP | 0.689 | 3 | Gain | - |
| KLHL10 | p.D552N | Missense | SNP | 0.518 | 2 | - | - |
| KLHL18 | - | - | - | - | 1 | Loss | - |
| KLHL38 | - | - | - | - | 3 | Gain | - |
| KLHL4 | p.Q27* | Nonsense | SNP | 1.000 | ND | ND | - |
| KLHL40 | - | - | - | - | 1 | Loss | - |
| KLHL9 | - | - | - | - | 1 | Loss | - |
| KLK3 | p.W29* | Nonsense | SNP | 0.571 | 2 | - | - |
| KLKB1 | p.P440S | Missense | SNP | 0.459 | 2 | - | - |
| KLRG2 | p.C396Y | Missense | SNP | 0.614 | 2 | - | - |
| KMT2A | - | - | - | - | 1 | Loss | - |
| KMT2B | p.P1821Hfs*74 p.L1071M | Frame_Shift_Del Missense | DEL SNP | 0.472 0.484 | 2 | - | - |
| KMT2E | p.V1184E | Missense | SNP | 0.445 | 2 | - | - |
| KMT5C | p.R339Pfs*122 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
| KNSTRN | p.F34L | Missense | SNP | 0.431 | 2 | - | - |
| KPNA3 | - | - | - | - | 3 | Gain | - |
| KPNA5 | p.R30Q | Missense | SNP | 0.536 | 2 | - | - |
| KRAS | p.E63K | Missense | SNP | 0.442 | 2 | - | - |
| KRBOX1 | - | - | - | - | 1 | Loss | - |
| KRT14 | - | - | - | - | 2 | - | KRT14--GTPBP2 |
| KRT26 | p.A151V | Missense | SNP | 0.417 | 2 | - | - |
| KRT33B | p.T401I | Missense | SNP | 0.438 | 2 | - | - |
| KRT5 | p.G549W | Missense | SNP | 0.712 | 2 | - | RNA5-8SN2--KRT5 |
| KRT6B | p.E473K | Missense | SNP | 0.474 | 2 | - | - |
| KRT81 | p.C441* | Nonsense | SNP | 0.062 | 2 | - | - |
| KRTAP19-3 | p.G51E | Missense | SNP | 0.995 | 2 | - | - |
| KRTAP25-1 | p.S5F | Missense | SNP | 1.000 | 2 | - | - |
| KRTAP4-1 | p.Q128* | Nonsense | SNP | 0.524 | 2 | - | - |
| KRTAP5-8 | p.S56Lfs*37 | Frame_Shift_Ins | INS | 0.267 | 2 | - | - |
| KRTAP6-1 | p.R43H | Missense | SNP | 0.465 | 2 | - | - |
| L1CAM | p.R554C | Missense | SNP | 1.000 | ND | ND | - |
| L3MBTL1 | p.D552K | Missense | MNP | 0.230 | 3 | Gain | - |
| L3MBTL2 | - | - | - | - | 3 | Gain | - |
| LACC1 | - | - | - | - | 3 | Gain | - |
| LACTB2 | - | - | - | - | 3 | Gain | - |
| LAMA1 | p.H1350Y | Missense | SNP | 0.496 | 2 | - | - |
| LAMA5 | p.W3447* p.X3169_splice p.R2193C | Nonsense Splice_Site Missense | SNP SNP SNP | 1.000 1.000 1.000 | 1 | Loss | - |
| LAMB2 | - | - | - | - | 1 | Loss | - |
| LAMP1 | - | - | - | - | 3 | Gain | - |
| LAPTM4B | - | - | - | - | 3 | Gain | - |
| LARS2 | - | - | - | - | 1 | Loss | - |
| LATS1 | p.L695F | Missense | SNP | 0.522 | 2 | - | - |
| LATS2 | - | - | - | - | 3 | Gain | - |
| LAYN | - | - | - | - | 1 | Loss | - |
| LBP | - | - | - | - | 3 | Gain | - |
| LCA5 | p.W436L | Missense | SNP | 0.460 | 2 | - | - |
| LCP1 | - | - | - | - | 3 | Gain | - |
| LCT | p.G531R | Missense | SNP | 0.454 | 2 | - | - |
| LDB3 | p.A222V | Missense | SNP | 0.463 | 2 | - | - |
| LDHAL6B | p.N162Y | Missense | SNP | 0.504 | 2 | - | - |
| LEPR | p.W319* p.G1131E | Nonsense Missense | SNP SNP | 0.462 0.481 | 2 | - | - |
| LEPROTL1 | - | - | - | - | 1 | Loss | - |
| LETM2 | - | - | - | - | 1 | Loss | - |
| LGI3 | - | - | - | - | 1 | Loss | - |
| LGR6 | p.P466L | Missense | MNP | 0.383 | 2 | - | - |
| LHFPL4 | - | - | - | - | 1 | Loss | - |
| LHFPL5 | p.D85N | Missense | SNP | 0.532 | 2 | - | - |
| LHFPL6 | - | - | - | - | 3 | Gain | - |
| LHX6 | p.L209F | Missense | SNP | 1.000 | 2 | - | - |
| LIFR | - | - | - | - | 4 | Gain | - |
| LIG3 | p.N125Kfs*11 | Frame_Shift_Ins | INS | 0.336 | 2 | - | - |
| LIG4 | - | - | - | - | 3 | Gain | - |
| LILRB1 | p.X24_splice p.D260E p.A271P p.V463L | Splice_Site Missense Missense Missense | SNP SNP SNP SNP | 0.429 0.141 0.124 0.522 | 2 | - | - |
| LIMD1 | - | - | - | - | 1 | Loss | - |
| LIME1 | - | - | - | - | 1 | Loss | - |
| LINGO2 | - | - | - | - | 1 | Loss | - |
| LIPI | - | - | - | - | 1 | Loss | - |
| LKAAEAR1 | - | - | - | - | 1 | Loss | - |
| LMBRD2 | - | - | - | - | 4 | Gain | - |
| LMCD1 | - | - | - | - | 1 | Loss | - |
| LMF2 | - | - | - | - | 3 | Gain | - |
| LMO7 | - | - | - | - | 3 | Gain | - |
| LMOD3 | - | - | - | - | 1 | Loss | - |
| LNX2 | p.H623Y | Missense | SNP | 0.606 | 3 | Gain | - |
| LONRF1 | - | - | - | - | 1 | Loss | - |
| LOXHD1 | p.G358R | Missense | SNP | 0.528 | 2 | - | - |
| LOXL2 | - | - | - | - | 1 | Loss | - |
| LPAR6 | - | - | - | - | 3 | Gain | - |
| LPCAT1 | - | - | - | - | 4 | Gain | - |
| LPIN1 | p.R171G | Missense | SNP | 0.500 | 2 | - | - |
| LPIN2 | p.P327L | Missense | SNP | 0.479 | 2 | - | - |
| LPIN3 | - | - | - | - | 3 | Gain | - |
| LPL | - | - | - | - | 1 | Loss | - |
| LPO | p.S291F | Missense | SNP | 0.474 | 2 | - | - |
| LRCH1 | - | - | - | - | 3 | Gain | - |
| LRFN3 | p.L39P | Missense | SNP | 0.453 | 2 | - | - |
| LRIG1 | - | - | - | - | 1 | Loss | - |
| LRIT3 | p.P121L | Missense | SNP | 0.606 | 2 | - | - |
| LRP1 | p.D4193Rfs*9 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
| LRP12 | - | - | - | - | 3 | Gain | - |
| LRP1B | p.K2543Nfs*42 p.D2709N | Frame_Shift_Del Missense | DEL SNP | 0.495 0.471 | 2 | - | - |
| LRP2 | p.G243R | Missense | SNP | 0.492 | 2 | - | - |
| LRP8 | p.A454T | Missense | SNP | 0.467 | 2 | - | - |
| LRRC14 | - | - | - | - | 3 | Gain | - |
| LRRC14B | - | - | - | - | 3 | Gain | - |
| LRRC15 | p.R302W p.S132N | Missense Missense | SNP SNP | 0.475 0.519 | 2 | - | - |
| LRRC19 | - | - | - | - | 1 | Loss | - |
| LRRC2 | - | - | - | - | 1 | Loss | - |
| LRRC24 | - | - | - | - | 3 | Gain | - |
| LRRC32 | p.L559M | Missense | SNP | 0.549 | 2 | - | - |
| LRRC37B | p.T465I | Missense | SNP | 0.600 | 2 | - | - |
| LRRC3B | - | - | - | - | 1 | Loss | - |
| LRRC3C | p.S254F | Missense | SNP | 0.473 | 2 | - | - |
| LRRC43 | p.T270I p.G517R | Missense Missense | SNP SNP | 0.456 0.451 | 2 | - | - |
| LRRC6 | - | - | - | - | 3 | Gain | - |
| LRRC63 | - | - | - | - | 3 | Gain | - |
| LRRC69 | - | - | - | - | 3 | Gain | - |
| LRRC72 | p.G201E | Missense | SNP | 0.439 | 2 | - | - |
| LRRCC1 | - | - | - | - | 3 | Gain | - |
| LRRD1 | p.P250S | Missense | SNP | 0.397 | 2 | - | - |
| LRRFIP2 | - | - | - | - | 1 | Loss | - |
| LRRIQ1 | p.E1539Kfs*20 | Frame_Shift_Del | DEL | 0.250 | 2 | - | - |
| LRRIQ3 | p.H13N | Missense | SNP | 0.608 | 2 | - | - |
| LRRIQ4 | p.P158L | Missense | SNP | 0.437 | 2 | - | - |
| LRRK2 | p.H1584Y | Missense | SNP | 0.530 | 2 | - | - |
| LRRN1 | - | - | - | - | 3 | Gain | - |
| LRRN3 | p.E417K | Missense | SNP | 0.426 | 2 | - | - |
| LRRTM1 | p.Q486K | Missense | SNP | 0.503 | 2 | - | - |
| LRRTM3 | p.E413K | Missense | SNP | 0.487 | 2 | - | - |
| LRRTM4 | p.P173S | Missense | SNP | 0.523 | 2 | - | - |
| LRTM1 | - | - | - | - | 1 | Loss | - |
| LSM1 | - | - | - | - | 1 | Loss | - |
| LSM14B | - | - | - | - | 1 | Loss | - |
| LSM3 | - | - | - | - | 1 | Loss | - |
| LSMEM2 | - | - | - | - | 1 | Loss | - |
| LSR | p.X366_splice | Splice_Site | SNP | 0.412 | 2 | - | - |
| LTBP4 | p.E515D | Missense | SNP | 0.495 | 2 | - | - |
| LTF | - | - | - | - | 1 | Loss | - |
| LTV1 | p.P390L | Missense | SNP | 0.438 | 2 | - | - |
| LURAP1L | - | - | - | - | 1 | Loss | - |
| LY6D | - | - | - | - | 3 | Gain | - |
| LY6E | - | - | - | - | 3 | Gain | - |
| LY6H | - | - | - | - | 3 | Gain | - |
| LY6K | - | - | - | - | 3 | Gain | - |
| LY6L | - | - | - | - | 3 | Gain | - |
| LY96 | - | - | - | - | 3 | Gain | - |
| LYG1 | p.X15_splice | Splice_Site | DEL | 0.404 | 2 | - | - |
| LYN | - | - | - | - | 3 | Gain | - |
| LYNX1 | - | - | - | - | 3 | Gain | - |
| LYNX1-SLURP2 | - | - | - | - | 3 | Gain | - |
| LYPD2 | - | - | - | - | 3 | Gain | - |
| LYPLA1 | - | - | - | - | 3 | Gain | - |
| LYRM9 | p.P53S | Missense | SNP | 0.414 | 2 | - | - |
| LYST | p.R2225H p.P319L | Missense Missense | SNP SNP | 0.462 0.520 | 2 | - | - |
| LYZL1 | - | - | - | - | 1 | Loss | - |
| LYZL2 | - | - | - | - | 1 | Loss | - |
| LYZL4 | - | - | - | - | 1 | Loss | - |
| LZTFL1 | - | - | - | - | 1 | Loss | - |
| LZTS1 | - | - | - | - | 1 | Loss | - |
| LZTS2 | p.P238S | Missense | SNP | 0.444 | 2 | - | - |
| MAB21L1 | - | - | - | - | 3 | Gain | - |
| MAF1 | - | - | - | - | 3 | Gain | - |
| MAFA | - | - | - | - | 3 | Gain | - |
| MAFB | - | - | - | - | 3 | Gain | - |
| MAGEA3 | p.Y269H | Missense | SNP | 1.000 | ND | ND | - |
| MAGEB2 | p.K170E | Missense | SNP | 1.000 | ND | ND | - |
| MAGEB4 | p.G212D | Missense | SNP | 1.000 | ND | ND | - |
| MAGEB6P1 | p.S120L | Missense | SNP | 1.000 | ND | ND | - |
| MAGEL2 | p.P1108L p.P13S | Missense Missense | SNP SNP | 0.476 0.534 | 2 | - | - |
| MAGI1 | - | - | - | - | 1 | Loss | - |
| MAK16 | - | - | - | - | 1 | Loss | - |
| MAL2 | - | - | - | - | 3 | Gain | - |
| MAMDC2 | p.D318V | Missense | SNP | 0.428 | 2 | - | - |
| MAML1 | p.E248K | Missense | SNP | 0.582 | 2 | - | - |
| MANBAL | - | - | - | - | 3 | Gain | - |
| MANF | - | - | - | - | 1 | Loss | - |
| MAP1LC3A | - | - | - | - | 3 | Gain | - |
| MAP2 | p.L1743F | Missense | SNP | 0.478 | 2 | - | - |
| MAP2K7 | p.D405E | Missense | SNP | 0.607 | 2 | - | - |
| MAP3K13 | p.G752E | Missense | SNP | 0.542 | 2 | - | - |
| MAP3K14 | p.P722S | Missense | SNP | 0.491 | 2 | - | - |
| MAP3K8 | - | - | - | - | 1 | Loss | - |
| MAP4 | - | - | - | - | 1 | Loss | - |
| MAP4K2 | p.T401A | Missense | SNP | 0.479 | 2 | - | - |
| MAP7D1 | p.G398Afs*34 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
| MAPK11 | - | - | - | - | 3 | Gain | - |
| MAPK12 | - | - | - | - | 3 | Gain | - |
| MAPK15 | - | - | - | - | 3 | Gain | - |
| MAPK8 | p.H141Y | Missense | SNP | 0.480 | 2 | - | - |
| MAPK8IP2 | - | - | - | - | 3 | Gain | - |
| MAPKAPK3 | - | - | - | - | 1 | Loss | - |
| MAPRE3 | p.C182Lfs*16 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
| MARCH1 | p.A9V | Missense | SNP | 0.435 | 2 | - | - |
| MARCH11 | - | - | - | - | 4 | Gain | - |
| MARCH6 | - | - | - | - | 4 | Gain | - |
| MAST4 | p.P1642L | Missense | SNP | 0.573 | 2 | - | - |
| MASTL | - | - | - | - | 1 | Loss | - |
| MATN2 | p.E930K | Missense | SNP | 0.302 | 3 | Gain | - |
| MATN4 | - | - | - | - | 3 | Gain | - |
| MBL2 | p.C155Y | Missense | SNP | 0.416 | 2 | - | - |
| MBNL2 | - | - | - | - | 3 | Gain | - |
| MBOAT4 | - | - | - | - | 1 | Loss | - |
| MC3R | - | - | - | - | 3 | Gain | - |
| MC5R | p.Y180H | Missense | SNP | 0.470 | 2 | - | - |
| MCAM | - | - | - | - | 1 | Loss | - |
| MCAT | - | - | - | - | 3 | Gain | - |
| MCF2L | p.V133I | Missense | SNP | 0.566 | 3 | Gain | - |
| MCHR1 | - | - | - | - | 3 | Gain | - |
| MCM3 | p.I3V | Missense | SNP | 0.414 | 2 | - | - |
| MCM4 | - | - | - | - | 3 | Gain | - |
| MCMDC2 | - | - | - | - | 3 | Gain | - |
| MCPH1 | - | - | - | - | 1 | Loss | - |
| MDGA2 | p.E529K | Missense | SNP | 0.451 | 2 | - | - |
| MDN1 | p.K1989Rfs*65 p.D4806N | Frame_Shift_Del Missense | DEL SNP | 0.533 0.545 | 2 | - | - |
| ME1 | p.R8H | Missense | SNP | 0.469 | 2 | - | - |
| MED10 | - | - | - | - | 4 | Gain | - |
| MED15 | p.Q453Sfs*41 | Frame_Shift_Del | DEL | 0.515 | 2 | - | - |
| MED16 | p.D623N | Missense | SNP | 1.000 | 2 | - | - |
| MED23 | p.R1167* | Nonsense | SNP | 0.562 | 2 | - | - |
| MED30 | - | - | - | - | 3 | Gain | - |
| MED4 | - | - | - | - | 3 | Gain | - |
| MEDAG | p.G69Afs*29 | Frame_Shift_Del | DEL | 0.621 | 3 | Gain | - |
| MEF2C | p.E71K | Missense | SNP | 0.435 | 2 | - | - |
| MEGF10 | p.R71Q | Missense | SNP | 0.495 | 2 | - | - |
| MEGF6 | p.A1440Hfs*78 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
| MEI1 | - | - | - | - | 3 | Gain | - |
| MELK | - | - | - | - | 1 | Loss | - |
| MEN1 | p.R521Gfs*43 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
| METTL21C | - | - | - | - | 3 | Gain | - |
| METTL25 | p.X459_splice | Splice_Site | SNP | 0.536 | 2 | - | - |
| METTL4 | p.S56del | In_Frame_Del | DEL | 0.455 | 2 | - | - |
| METTL6 | - | - | - | - | 1 | Loss | - |
| MEX3D | p.A374V | Missense | SNP | 0.538 | 2 | - | - |
| MFHAS1 | - | - | - | - | 1 | Loss | - |
| MFRP | - | - | - | - | 1 | Loss | - |
| MFSD3 | - | - | - | - | 3 | Gain | - |
| MFSD4B | p.C202Vfs*4 | Frame_Shift_Del | DEL | 0.386 | 2 | - | - |
| MFSD6 | p.P25L | Missense | SNP | 0.464 | 2 | - | - |
| MGAM | p.R98Q | Missense | SNP | 0.539 | 2 | - | - |
| MGAM2 | p.P1815S | Missense | SNP | 0.355 | 2 | - | - |
| MGARP | p.N20Tfs*27 | Frame_Shift_Del | DEL | 0.356 | 2 | - | - |
| MIB2 | p.A10Pfs*48 | Frame_Shift_Del | DEL | 0.627 | 2 | - | - |
| MICAL1 | p.T272A | Missense | SNP | 0.429 | 2 | - | - |
| MICALL1 | p.E810K | Missense | SNP | 0.509 | 2 | - | - |
| MICU2 | - | - | - | - | 3 | Gain | - |
| MICU3 | - | - | - | - | 1 | Loss | - |
| MIEF1 | p.P150S | Missense | SNP | 0.489 | 2 | - | - |
| MINK1 | p.P246S p.P250L | Missense Missense | SNP SNP | 0.504 0.532 | 2 | - | - |
| MIOX | - | - | - | - | 3 | Gain | - |
| MIPEP | - | - | - | - | 3 | Gain | - |
| MITF | - | - | - | - | 1 | Loss | - |
| MKI67 | p.M746I | Missense | SNP | 0.529 | 2 | - | - |
| MKLN1 | p.Q309* | Nonsense | SNP | 0.440 | 2 | - | - |
| MKRN2 | - | - | - | - | 1 | Loss | - |
| MKRN2OS | - | - | - | - | 1 | Loss | - |
| MKX | - | - | - | - | 1 | Loss | - |
| MLANA | - | - | - | - | 1 | Loss | - |
| MLC1 | p.R22W | Missense | SNP | 0.633 | 3 | Gain | - |
| MLH1 | p.X702_splice | Splice_Site | SNP | 1.000 | 1 | Loss | - |
| MLH3 | p.E586Nfs*24 | Frame_Shift_Del | DEL | 0.388 | 2 | - | - |
| MLLT10 | - | - | - | - | 1 | Loss | - |
| MLLT3 | - | - | - | - | 1 | Loss | - |
| MLNR | - | - | - | - | 3 | Gain | - |
| MLXIP | p.P577S | Missense | SNP | 0.434 | 2 | - | - |
| MMEL1 | p.A568Gfs*53 | Frame_Shift_Ins | INS | 0.266 | 2 | - | - |
| MMP16 | - | - | - | - | 3 | Gain | - |
| MMP20 | p.R273Q | Missense | SNP | 0.672 | 3 | Gain | - |
| MMP24 | - | - | - | - | 3 | Gain | - |
| MMP27 | - | - | - | - | 3 | Gain | - |
| MMP7 | - | - | - | - | 3 | Gain | - |
| MMP9 | - | - | - | - | 3 | Gain | - |
| MMRN2 | p.A693T | Missense | SNP | 0.458 | 2 | - | - |
| MOB3B | - | - | - | - | 1 | Loss | - |
| MOBP | - | - | - | - | 1 | Loss | - |
| MOCS3 | - | - | - | - | 3 | Gain | - |
| MON1A | - | - | - | - | 1 | Loss | - |
| MON2 | p.F980Sfs*11 p.E1544Vfs*10 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.538 0.686 | 2 | - | - |
| MOS | - | - | - | - | 3 | Gain | - |
| MOV10L1 | - | - | - | - | 3 | Gain | - |
| MPDZ | - | - | - | - | 1 | Loss | - |
| MPHOSPH9 | p.S157Lfs*2 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
| MPP7 | - | - | - | - | 1 | Loss | - |
| MPPED1 | - | - | - | - | 3 | Gain | - |
| MPRIP | p.X426_splice | Splice_Site | SNP | 0.594 | 2 | - | - |
| MPZL2 | - | - | - | - | 1 | Loss | - |
| MPZL3 | - | - | - | - | 1 | Loss | - |
| MRC1 | p.W728R | Missense | SNP | 0.449 | 2 | - | - |
| MRGBP | - | - | - | - | 1 | Loss | - |
| MRI1 | p.H330Tfs*24 | Frame_Shift_Del | DEL | 0.519 | 2 | - | - |
| MROH1 | - | - | - | - | 3 | Gain | - |
| MROH2B | p.I1372Sfs*5 | Frame_Shift_Del | DEL | 0.168 | 4 | Gain | - |
| MROH5 | - | - | - | - | 3 | Gain | - |
| MROH6 | - | - | - | - | 3 | Gain | - |
| MROH8 | - | - | - | - | 3 | Gain | - |
| MROH9 | p.L605V | Missense | SNP | 0.433 | 2 | - | - |
| MRPL13 | - | - | - | - | 3 | Gain | - |
| MRPL15 | - | - | - | - | 3 | Gain | - |
| MRPL36 | - | - | - | - | 4 | Gain | - |
| MRPL57 | - | - | - | - | 3 | Gain | - |
| MRPS25 | - | - | - | - | 1 | Loss | - |
| MRPS28 | - | - | - | - | 3 | Gain | - |
| MRPS30 | p.L150P | Missense | SNP | 0.232 | 4 | Gain | - |
| MRPS31 | p.H17Y | Missense | SNP | 0.698 | 3 | Gain | - |
| MRTFA | - | - | - | - | 2 | - | MRTFA--ASIP |
| MRVI1 | p.F788I | Missense | SNP | 0.444 | 2 | - | - |
| MSANTD2 | - | - | - | - | 1 | Loss | - |
| MSANTD4 | - | - | - | - | 1 | Loss | - |
| MSC | - | - | - | - | 3 | Gain | - |
| MSH5 | p.E424K | Missense | SNP | 0.465 | 2 | - | - |
| MSI1 | p.X34_splice | Splice_Site | SNP | 0.525 | 2 | - | - |
| MSMP | - | - | - | - | 1 | Loss | - |
| MSN | p.E178K | Missense | SNP | 1.000 | ND | ND | - |
| MSR1 | - | - | - | - | 1 | Loss | - |
| MSRA | - | - | - | - | 1 | Loss | - |
| MSRB2 | - | - | - | - | 1 | Loss | - |
| MST1 | - | - | - | - | 1 | Loss | - |
| MST1R | - | - | - | - | 1 | Loss | - |
| MSX1 | p.K139R | Missense | SNP | 0.409 | 2 | - | - |
| MTAP | - | - | - | - | 1 | Loss | - |
| MTBP | - | - | - | - | 3 | Gain | - |
| MTDH | - | - | - | - | 3 | Gain | - |
| MTERF3 | - | - | - | - | 3 | Gain | - |
| MTFR1 | - | - | - | - | 3 | Gain | - |
| MTG2 | - | - | - | - | 1 | Loss | - |
| MTHFD1 | p.D142N | Missense | SNP | 0.506 | 2 | - | - |
| MTHFD1L | p.G650K | Missense | MNP | 0.416 | 2 | - | - |
| MTHFR | p.X344_splice | Splice_Site | SNP | 0.562 | 2 | - | - |
| MTIF3 | - | - | - | - | 3 | Gain | - |
| MTMR12 | - | - | - | - | 4 | Gain | - |
| MTMR14 | - | - | - | - | 1 | Loss | - |
| MTMR4 | p.L534F | Missense | SNP | 0.392 | 2 | - | - |
| MTMR6 | - | - | - | - | 3 | Gain | - |
| MTMR7 | - | - | - | - | 1 | Loss | - |
| MTMR9 | - | - | - | - | 1 | Loss | - |
| MTPAP | - | - | - | - | 1 | Loss | - |
| MTRF1 | - | - | - | - | 3 | Gain | - |
| MTRR | - | - | - | - | 4 | Gain | - |
| MTSS1 | - | - | - | - | 3 | Gain | - |
| MTUS1 | - | - | - | - | 1 | Loss | - |
| MTUS2 | - | - | - | - | 3 | Gain | - |
| MTX3 | p.I35Lfs*26 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
| MUC16 | p.T11847Qfs*15 p.S7713Lfs*5 p.R10425K p.T10109A p.S5258F | Frame_Shift_Del Frame_Shift_Del Missense Missense Missense | DEL DEL SNP SNP SNP | 0.494 0.510 0.486 0.545 0.497 | 2 | - | - |
| MUC22 | p.G961C | Missense | SNP | 0.426 | 2 | - | - |
| MUC5AC | p.S2245F p.S4208N | Missense Missense | SNP SNP | 0.520 0.484 | 2 | - | - |
| MUSTN1 | - | - | - | - | 1 | Loss | - |
| MYBL1 | - | - | - | - | 3 | Gain | - |
| MYBL2 | - | - | - | - | 3 | Gain | - |
| MYC | - | - | - | - | 3 | Gain | - |
| MYCBP2 | p.L2080F | Missense | SNP | 0.697 | 3 | Gain | - |
| MYD88 | - | - | - | - | 1 | Loss | - |
| MYH11 | p.T1786M p.P573L | Missense Missense | SNP SNP | 0.508 0.356 | 2 | - | - |
| MYH14 | p.V1526E | Missense | SNP | 0.500 | 2 | - | - |
| MYH15 | p.A30V | Missense | SNP | 0.537 | 2 | - | - |
| MYH3 | p.X894_splice | Splice_Site | SNP | 0.386 | 2 | - | - |
| MYH4 | p.X1328_splice p.E779K | Splice_Site Missense | SNP SNP | 0.435 0.430 | 2 | - | - |
| MYH6 | p.V649M | Missense | SNP | 0.482 | 2 | - | - |
| MYH7 | p.E1387Q p.G181E | Missense Missense | SNP SNP | 0.444 0.461 | 2 | - | - |
| MYH7B | p.T526N | Missense | SNP | 0.594 | 3 | Gain | - |
| MYH8 | p.Q805* | Nonsense | SNP | 0.574 | 2 | - | - |
| MYL10 | p.S45P | Missense | SNP | 0.590 | 2 | - | - |
| MYL3 | - | - | - | - | 1 | Loss | - |
| MYL9 | - | - | - | - | 3 | Gain | - |
| MYLK | p.S1345N | Missense | SNP | 0.380 | 2 | - | - |
| MYO10 | - | - | - | - | 4 | Gain | - |
| MYO15A | p.E2962K | Missense | SNP | 0.530 | 2 | - | - |
| MYO16 | p.N405T | Missense | SNP | 0.553 | 3 | Gain | - |
| MYO3A | - | - | - | - | 1 | Loss | - |
| MYO5C | p.X555_splice | Splice_Site | SNP | 0.463 | 2 | - | - |
| MYO9B | p.G1292R | Missense | SNP | 0.541 | 2 | - | - |
| MYOM1 | p.S715F | Missense | SNP | 0.479 | 2 | - | - |
| MYOM2 | - | - | - | - | 1 | Loss | - |
| MYOM3 | p.R513* | Nonsense | SNP | 0.467 | 2 | - | - |
| MYORG | - | - | - | - | 1 | Loss | - |
| MYOZ3 | p.P167F | Missense | MNP | 0.456 | 2 | - | - |
| MYPN | p.I891* | Frame_Shift_Del | DEL | 0.570 | 2 | - | - |
| MYRF | p.S264Afs*8 p.K745Qfs*57 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.449 0.312 | 2 | - | - |
| MYRIP | - | - | - | - | 1 | Loss | - |
| MYT1 | - | - | - | - | 1 | Loss | - |
| MZT1 | - | - | - | - | 3 | Gain | - |
| N4BP2L1 | - | - | - | - | 3 | Gain | - |
| N4BP2L2 | - | - | - | - | 3 | Gain | - |
| NAA16 | p.E63Kfs*38 | Frame_Shift_Del | DEL | 0.325 | 3 | Gain | - |
| NAA80 | - | - | - | - | 1 | Loss | - |
| NAAA | p.H290N | Missense | SNP | 0.500 | 2 | - | - |
| NADK2 | - | - | - | - | 4 | Gain | - |
| NAGA | - | - | - | - | 3 | Gain | - |
| NAIP | - | - | - | - | 1 | Loss | - |
| NALCN | - | - | - | - | 3 | Gain | - |
| NANP | p.Y39C | Missense | SNP | 0.429 | 2 | - | - |
| NAPRT | - | - | - | - | 3 | Gain | - |
| NARFL | p.G318Afs*27 | Frame_Shift_Del | DEL | 0.364 | ND | ND | - |
| NAT1 | - | - | - | - | 1 | Loss | - |
| NAT2 | - | - | - | - | 1 | Loss | - |
| NAV3 | p.R398C p.P2240S | Missense Missense | SNP SNP | 0.561 0.400 | 2 | - | - |
| NAXD | - | - | - | - | 3 | Gain | - |
| NBEA | p.P2655S | Missense | SNP | 0.752 | 3 | Gain | - |
| NBEAL2 | - | - | - | - | 1 | Loss | - |
| NBN | - | - | - | - | 3 | Gain | - |
| NCALD | - | - | - | - | 3 | Gain | - |
| NCAM1 | p.V695I | Missense | SNP | 1.000 | 1 | Loss | - |
| NCAM2 | p.G326K | Missense | MNP | 0.393 | 2 | - | - |
| NCAPD2 | p.A1162T | Missense | SNP | 0.466 | 2 | - | - |
| NCAPD3 | - | - | - | - | 1 | Loss | - |
| NCAPH2 | - | - | - | - | 3 | Gain | - |
| NCKIPSD | - | - | - | - | 1 | Loss | - |
| NCOA2 | - | - | - | - | 3 | Gain | - |
| NCOA3 | p.R683Q p.M1407L | Missense Missense | SNP SNP | 0.351 0.766 | 3 | Gain | - |
| NCOA5 | - | - | - | - | 3 | Gain | - |
| NCOA6 | - | - | - | - | 3 | Gain | - |
| NCOR1 | p.G1063D p.R584Q | Missense Missense | SNP SNP | 0.389 0.510 | 2 | - | - |
| NDFIP2 | - | - | - | - | 3 | Gain | - |
| NDRG1 | - | - | - | - | 3 | Gain | - |
| NDRG3 | - | - | - | - | 3 | Gain | - |
| NDUFA6 | - | - | - | - | 3 | Gain | - |
| NDUFAF3 | - | - | - | - | 1 | Loss | - |
| NDUFAF6 | - | - | - | - | 3 | Gain | - |
| NDUFB6 | - | - | - | - | 1 | Loss | - |
| NDUFB9 | - | - | - | - | 3 | Gain | - |
| NDUFS6 | - | - | - | - | 4 | Gain | - |
| NEB | p.R8004H p.S7788* p.D2218G | Missense Nonsense Missense | SNP SNP SNP | 0.500 0.449 0.522 | 2 | - | - |
| NEBL | - | - | - | - | 1 | Loss | - |
| NECAB1 | - | - | - | - | 3 | Gain | - |
| NECTIN1 | - | - | - | - | 1 | Loss | - |
| NEFL | - | - | - | - | 1 | Loss | - |
| NEFM | - | - | - | - | 1 | Loss | - |
| NEIL2 | - | - | - | - | 1 | Loss | - |
| NEK10 | - | - | - | - | 1 | Loss | - |
| NEK3 | p.S447F | Missense | SNP | 0.690 | 3 | Gain | - |
| NEK4 | - | - | - | - | 1 | Loss | - |
| NEK5 | p.S702N | Missense | SNP | 0.683 | 3 | Gain | - |
| NELFCD | - | - | - | - | 11 | Amp | - |
| NELL1 | p.Y472C | Missense | SNP | 0.496 | 2 | - | - |
| NEU2 | p.R204H | Missense | SNP | 0.511 | 2 | - | - |
| NEURL2 | - | - | - | - | 3 | Gain | - |
| NFAM1 | - | - | - | - | 3 | Gain | - |
| NFATC2 | p.P296Lfs*7 | Frame_Shift_Del | DEL | 0.613 | 3 | Gain | - |
| NFATC3 | p.P404L | Missense | SNP | 0.476 | 2 | - | - |
| NFIB | - | - | - | - | 1 | Loss | - |
| NFKBIB | p.P344Qfs*19 | Frame_Shift_Del | DEL | 0.542 | 2 | - | - |
| NFKBIE | p.G34E | Missense | SNP | 0.673 | 2 | - | - |
| NFRKB | - | - | - | - | 1 | Loss | - |
| NFS1 | - | - | - | - | 3 | Gain | - |
| NFX1 | - | - | - | - | 1 | Loss | - |
| NGLY1 | - | - | - | - | 1 | Loss | - |
| NHLRC3 | - | - | - | - | 3 | Gain | - |
| NHSL1 | p.L570* p.S1251F | Frame_Shift_Del Missense | DEL SNP | 0.514 0.455 | 2 | - | - |
| NICN1 | - | - | - | - | 1 | Loss | - |
| NID2 | p.R1035Gfs*67 | Frame_Shift_Del | DEL | 0.082 | 2 | - | - |
| NIM1K | - | - | - | - | 4 | Gain | - |
| NIN | p.G1159R | Missense | SNP | 0.612 | 2 | - | - |
| NIPA1 | p.D66H p.P91H | Missense Missense | SNP SNP | 0.579 0.437 | 2 | - | - |
| NIPAL2 | - | - | - | - | 3 | Gain | - |
| NIPBL | - | - | - | - | 4 | Gain | - |
| NISCH | - | - | - | - | 1 | Loss | - |
| NKAIN3 | - | - | - | - | 3 | Gain | - |
| NKAIN4 | - | - | - | - | 1 | Loss | - |
| NKAPD1 | - | - | - | - | 1 | Loss | - |
| NKD1 | p.H458dup | In_Frame_Ins | INS | 0.305 | 2 | - | - |
| NKD2 | - | - | - | - | 4 | Gain | - |
| NKIRAS1 | - | - | - | - | 1 | Loss | - |
| NKTR | p.S1333F | Missense | SNP | 1.000 | 1 | Loss | - |
| NKX2-6 | - | - | - | - | 1 | Loss | - |
| NKX3-1 | - | - | - | - | 1 | Loss | - |
| NKX6-3 | - | - | - | - | 1 | Loss | - |
| NLGN3 | p.A683T | Missense | SNP | 1.000 | ND | ND | - |
| NLRP10 | p.M510T | Missense | SNP | 0.440 | 2 | - | - |
| NLRP11 | p.Y587C | Missense | SNP | 0.554 | 2 | - | - |
| NLRP13 | p.Y20Lfs*55 p.T243A | Frame_Shift_Ins Missense | INS SNP | 0.369 0.573 | 2 | - | - |
| NLRP4 | p.V453M p.G539E | Missense Missense | SNP SNP | 0.464 0.479 | 2 | - | - |
| NLRP6 | p.S501G | Missense | SNP | 0.515 | 2 | - | - |
| NLRX1 | - | - | - | - | 1 | Loss | - |
| NME6 | - | - | - | - | 1 | Loss | - |
| NNAT | - | - | - | - | 3 | Gain | - |
| NNMT | - | - | - | - | 1 | Loss | - |
| NNT | - | - | - | - | 4 | Gain | - |
| NOD2 | p.P528Qfs*235 | Frame_Shift_Del | DEL | 0.321 | 2 | - | - |
| NOL4L | p.G413N | Missense | MNP | 0.632 | 2 | - | - |
| NOL6 | - | - | - | - | 1 | Loss | - |
| NOS1 | p.G676Afs*64 p.T1349M | Frame_Shift_Del Missense | DEL SNP | 0.482 0.377 | 2 | - | - |
| NOS3 | p.P42Q | Missense | SNP | 0.556 | 2 | - | - |
| NOTCH1 | p.G270Vfs*7 | Frame_Shift_Del | DEL | 0.987 | 2 | - | - |
| NOTCH2 | p.S1419Afs*8 p.D1451N;p.W1450* | Frame_Shift_Del Nonsense | DEL MNP | 0.567 0.565 | 2 | - | - |
| NOV | - | - | - | - | 3 | Gain | - |
| NPAP1 | p.N460T p.P645S | Missense Missense | SNP SNP | 0.451 0.475 | 2 | - | - |
| NPAT | - | - | - | - | 1 | Loss | - |
| NPBWR1 | - | - | - | - | 3 | Gain | - |
| NPBWR2 | p.R238K | Missense | SNP | 1.000 | 1 | Loss | - |
| NPC2 | p.P86S | Missense | SNP | 0.516 | 2 | - | - |
| NPEPL1 | p.V412A | Missense | SNP | 0.723 | 3 | Gain | - |
| NPHP4 | p.P776S p.V422I | Missense Missense | SNP SNP | 0.468 0.451 | 2 | - | - |
| NPHS1 | p.R407W | Missense | SNP | 0.514 | 2 | - | - |
| NPM2 | - | - | - | - | 1 | Loss | - |
| NPR2 | - | - | - | - | 1 | Loss | - |
| NPR3 | - | - | - | - | 4 | Gain | - |
| NPRL2 | - | - | - | - | 1 | Loss | - |
| NPTN | p.X204_splice | Splice_Site | SNP | 0.410 | 2 | - | - |
| NPTX1 | p.W319* | Nonsense | MNP | 0.427 | 2 | - | - |
| NR1D2 | - | - | - | - | 1 | Loss | - |
| NR2C2 | - | - | - | - | 1 | Loss | - |
| NR2E1 | p.G72S | Missense | SNP | 0.600 | 2 | - | - |
| NRAS | p.A91V | Missense | SNP | 0.511 | 2 | - | - |
| NRBP2 | - | - | - | - | 3 | Gain | - |
| NRG1 | - | - | - | - | 1 | Loss | - |
| NRG3 | p.P553L | Missense | SNP | 0.410 | 2 | - | - |
| NRGN | p.P61Afs*23 | Frame_Shift_Ins | INS | 0.489 | 1 | Loss | - |
| NRL | p.R207C | Missense | SNP | 0.615 | 2 | - | - |
| NRP1 | - | - | - | - | 1 | Loss | - |
| NRXN2 | p.A270Pfs*57 | Frame_Shift_Del | DEL | 0.347 | 2 | - | - |
| NRXN3 | p.N872S | Missense | SNP | 0.347 | 2 | - | - |
| NSD3 | - | - | - | - | 1 | Loss | - |
| NSF | p.L481F | Missense | SNP | 0.291 | 2 | - | - |
| NSMAF | - | - | - | - | 3 | Gain | - |
| NSMCE2 | p.Y209F | Missense | SNP | 0.641 | 3 | Gain | - |
| NSUN2 | - | - | - | - | 4 | Gain | - |
| NSUN7 | p.R541W | Missense | SNP | 0.497 | 2 | - | - |
| NT5DC2 | - | - | - | - | 1 | Loss | - |
| NT5DC3 | p.P51Rfs*3 | Frame_Shift_Del | DEL | 0.556 | 2 | - | - |
| NTM | - | - | - | - | 1 | Loss | - |
| NTN5 | p.H124Y | Missense | SNP | 0.484 | 2 | - | - |
| NTSR1 | - | - | - | - | 1 | Loss | - |
| NUDCD1 | p.E451K | Missense | SNP | 0.677 | 3 | Gain | - |
| NUDT15 | - | - | - | - | 3 | Gain | - |
| NUDT18 | - | - | - | - | 1 | Loss | - |
| NUDT2 | - | - | - | - | 1 | Loss | - |
| NUFIP1 | - | - | - | - | 3 | Gain | - |
| NUGGC | - | - | - | - | 1 | Loss | - |
| NUP155 | - | - | - | - | 4 | Gain | - |
| NUP210 | - | - | - | - | 1 | Loss | - |
| NUP214 | p.A53S | Missense | SNP | 1.000 | 2 | - | - |
| NUP50 | - | - | - | - | 3 | Gain | - |
| NUP58 | p.S170F | Missense | SNP | 0.620 | 3 | Gain | - |
| NXPE1 | - | - | - | - | 1 | Loss | - |
| NXPE2 | - | - | - | - | 1 | Loss | - |
| NXPE4 | - | - | - | - | 1 | Loss | - |
| OAF | - | - | - | - | 1 | Loss | - |
| OBSL1 | p.P804S | Missense | SNP | 0.455 | 2 | - | - |
| OC90 | - | - | - | - | 3 | Gain | - |
| OCA2 | p.K614Sfs*14 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
| OCSTAMP | - | - | - | - | 3 | Gain | - |
| ODF1 | - | - | - | - | 3 | Gain | - |
| ODF3B | - | - | - | - | 3 | Gain | - |
| OGDH | p.P430S | Missense | SNP | 0.449 | 2 | - | - |
| OGDHL | p.P839L | Missense | SNP | 0.460 | 2 | - | - |
| OGFR | - | - | - | - | 1 | Loss | - |
| OGG1 | - | - | - | - | 1 | Loss | - |
| OLFM2 | p.R125K | Missense | SNP | 0.404 | 2 | - | - |
| OLFM4 | - | - | - | - | 3 | Gain | - |
| OLFML2A | p.A3D | Missense | SNP | 0.500 | 2 | - | - |
| OPCML | - | - | - | - | 1 | Loss | - |
| OPLAH | - | - | - | - | 3 | Gain | - |
| OPRK1 | - | - | - | - | 3 | Gain | - |
| OPRL1 | - | - | - | - | 1 | Loss | - |
| OPRM1 | p.V2I p.C397F | Missense Missense | SNP SNP | 0.455 0.538 | 2 | - | - |
| OR10D3 | - | - | - | - | 1 | Loss | - |
| OR10G3 | p.M60Hfs*12 | Frame_Shift_Ins | INS | 0.326 | 2 | - | - |
| OR10G4 | - | - | - | - | 1 | Loss | - |
| OR10G7 | - | - | - | - | 1 | Loss | - |
| OR10G8 | - | - | - | - | 1 | Loss | - |
| OR10G9 | - | - | - | - | 1 | Loss | - |
| OR10H1 | p.T57M | Missense | SNP | 0.102 | 2 | - | - |
| OR10K1 | p.R122C | Missense | SNP | 0.480 | 2 | - | - |
| OR10S1 | - | - | - | - | 1 | Loss | - |
| OR13D1 | p.G138D | Missense | SNP | 1.000 | 2 | - | - |
| OR13J1 | - | - | - | - | 1 | Loss | - |
| OR14K1 | p.I112N | Missense | SNP | 0.423 | 2 | - | - |
| OR1L1 | p.G41E | Missense | SNP | 1.000 | 2 | - | - |
| OR1L3 | p.E196K | Missense | SNP | 1.000 | 2 | - | - |
| OR2A2 | p.A299T | Missense | SNP | 0.515 | 2 | - | - |
| OR2B11 | p.P267Lfs*18 p.S71F | Frame_Shift_Del Missense | DEL SNP | 0.432 0.424 | 2 | - | - |
| OR2G3 | p.T161A | Missense | SNP | 0.471 | 2 | - | - |
| OR2G6 | p.G16R | Missense | SNP | 0.559 | 2 | - | - |
| OR2M3 | p.S10F p.S165F | Missense Missense | SNP SNP | 0.493 0.488 | 2 | - | - |
| OR2M4 | p.E173K | Missense | SNP | 0.563 | 2 | - | - |
| OR2S2 | - | - | - | - | 1 | Loss | - |
| OR2T1 | p.P211S | Missense | SNP | 0.509 | 2 | - | - |
| OR2T10 | p.L114F | Missense | SNP | 0.462 | 2 | - | - |
| OR2T27 | p.S7F | Missense | SNP | 0.186 | 2 | - | - |
| OR2V2 | p.G305R | Missense | SNP | 0.452 | 2 | - | - |
| OR3A2 | p.A161V | Missense | SNP | 0.361 | 2 | - | - |
| OR4D5 | - | - | - | - | 1 | Loss | - |
| OR4F6 | p.R122Q | Missense | SNP | 0.481 | 2 | - | - |
| OR4N5 | p.G204S | Missense | SNP | 0.527 | 2 | - | - |
| OR51B5 | p.G91R | Missense | SNP | 0.450 | 2 | - | - |
| OR5AR1 | p.V154L | Missense | SNP | 0.510 | 2 | - | - |
| OR5AS1 | p.G253E | Missense | SNP | 0.558 | 2 | - | - |
| OR5B12 | p.G70D | Missense | SNP | 0.439 | 2 | - | - |
| OR5H2 | p.G247R | Missense | SNP | 0.472 | 2 | - | - |
| OR5I1 | p.S93F | Missense | SNP | 0.512 | 2 | - | - |
| OR5K1 | p.S156F | Missense | SNP | 0.549 | 2 | - | - |
| OR5P3 | p.G151Vfs*4 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
| OR6J1 | p.G2S | Missense | SNP | 0.455 | 2 | - | - |
| OR6M1 | - | - | - | - | 1 | Loss | - |
| OR6P1 | p.A33Cfs*59 | Frame_Shift_Ins | INS | 0.291 | 2 | - | - |
| OR6T1 | - | - | - | - | 1 | Loss | - |
| OR6X1 | - | - | - | - | 1 | Loss | - |
| OR8A1 | - | - | - | - | 1 | Loss | - |
| OR8B12 | - | - | - | - | 1 | Loss | - |
| OR8B2 | - | - | - | - | 1 | Loss | - |
| OR8B3 | - | - | - | - | 1 | Loss | - |
| OR8B4 | - | - | - | - | 1 | Loss | - |
| OR8B8 | - | - | - | - | 1 | Loss | - |
| OR8D1 | - | - | - | - | 1 | Loss | - |
| OR8D2 | - | - | - | - | 1 | Loss | - |
| OR8D4 | p.F104Sfs*48 | Frame_Shift_Del | DEL | 0.168 | 1 | Loss | - |
| OR8G1 | - | - | - | - | 1 | Loss | - |
| OR8G5 | - | - | - | - | 1 | Loss | - |
| OSBPL10 | - | - | - | - | 1 | Loss | - |
| OSBPL2 | - | - | - | - | 1 | Loss | - |
| OSBPL6 | p.P587S | Missense | SNP | 0.546 | 2 | - | - |
| OSER1 | - | - | - | - | 3 | Gain | - |
| OSGIN2 | - | - | - | - | 3 | Gain | - |
| OSMR | - | - | - | - | 4 | Gain | - |
| OSR2 | - | - | - | - | 3 | Gain | - |
| OTOG | p.S300F | Missense | SNP | 0.541 | 2 | - | - |
| OTUD1 | - | - | - | - | 1 | Loss | - |
| OTUD6B | - | - | - | - | 3 | Gain | - |
| OTULIN | - | - | - | - | 4 | Gain | - |
| OTULINL | - | - | - | - | 4 | Gain | - |
| OVOS2 | p.I69T | Missense | SNP | 0.425 | ND | ND | - |
| OXCT1 | - | - | - | - | 4 | Gain | - |
| OXER1 | p.S78Pfs*64 p.R393H | Frame_Shift_Del Missense | DEL SNP | 0.367 0.502 | 2 | - | - |
| OXGR1 | - | - | - | - | 3 | Gain | - |
| OXNAD1 | - | - | - | - | 1 | Loss | - |
| OXR1 | - | - | - | - | 3 | Gain | - |
| OXSM | - | - | - | - | 1 | Loss | - |
| OXSR1 | - | - | - | - | 1 | Loss | - |
| OXTR | - | - | - | - | 1 | Loss | - |
| P2RY1 | p.W117* | Nonsense | SNP | 0.408 | 2 | - | - |
| P4HA2 | p.E259Kfs*10 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
| P4HTM | - | - | - | - | 1 | Loss | - |
| PABPC1 | - | - | - | - | 3 | Gain | - |
| PABPC1L | - | - | - | - | 3 | Gain | - |
| PABPC3 | - | - | - | - | 3 | Gain | - |
| PACSIN2 | - | - | - | - | 3 | Gain | - |
| PADI2 | p.V447M | Missense | SNP | 0.052 | 2 | - | - |
| PADI4 | p.K522Nfs*5 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
| PAFAH1B2 | - | - | - | - | 1 | Loss | - |
| PAG1 | p.G19R | Missense | SNP | 0.632 | 3 | Gain | - |
| PAIP1 | - | - | - | - | 4 | Gain | - |
| PAK1 | p.P469S | Missense | SNP | 0.513 | 2 | - | - |
| PAK5 | p.Q37* | Nonsense | SNP | 0.506 | 2 | - | - |
| PALLD | p.A123V | Missense | SNP | 0.444 | 2 | - | - |
| PAN3 | - | - | - | - | 3 | Gain | - |
| PANX2 | - | - | - | - | 3 | Gain | - |
| PANX3 | - | - | - | - | 1 | Loss | - |
| PAPPA2 | p.V1725I | Missense | SNP | 0.633 | 2 | - | - |
| PARD3 | - | - | - | - | 1 | Loss | - |
| PARD6B | - | - | - | - | 3 | Gain | - |
| PARP10 | - | - | - | - | 3 | Gain | - |
| PARP3 | - | - | - | - | 1 | Loss | - |
| PARP4 | - | - | - | - | 3 | Gain | - |
| PARPBP | p.S176L | Missense | SNP | 0.470 | 2 | - | - |
| PARVB | - | - | - | - | 3 | Gain | - |
| PARVG | p.R307Qfs*61 | Frame_Shift_Ins | INS | 0.203 | 3 | Gain | - |
| PATE1 | - | - | - | - | 1 | Loss | - |
| PATE2 | - | - | - | - | 1 | Loss | - |
| PATE3 | - | - | - | - | 1 | Loss | - |
| PATE4 | - | - | - | - | 1 | Loss | - |
| PAX1 | p.G6R | Missense | SNP | 0.571 | 2 | - | - |
| PAX5 | - | - | - | - | 1 | Loss | - |
| PAX9 | p.D316G | Missense | SNP | 0.466 | 2 | - | - |
| PBK | - | - | - | - | 1 | Loss | - |
| PBRM1 | - | - | - | - | 1 | Loss | - |
| PCBD2 | p.D116Mfs*2 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
| PCBP4 | - | - | - | - | 1 | Loss | - |
| PCCA | - | - | - | - | 3 | Gain | - |
| PCDH15 | p.P1534L p.G1354E p.I211N | Missense Missense Missense | SNP SNP SNP | 0.273 0.752 0.487 | 3 | Gain | - |
| PCDH17 | p.N765Kfs*2 p.S908F | Frame_Shift_Ins Missense | INS SNP | 0.215 0.278 | 3 | Gain | - |
| PCDH20 | - | - | - | - | 3 | Gain | - |
| PCDH8 | - | - | - | - | 3 | Gain | - |
| PCDH9 | - | - | - | - | 3 | Gain | - |
| PCDHA1 | p.C705G | Missense | SNP | 0.460 | 2 | - | - |
| PCDHA12 | p.L700I | Missense | SNP | 0.515 | 2 | - | - |
| PCDHA7 | p.P774S | Missense | SNP | 0.405 | 2 | - | - |
| PCDHA8 | p.R635H p.S668L | Missense Missense | SNP SNP | 0.450 0.442 | 2 | - | - |
| PCDHB13 | p.L140S | Missense | SNP | 0.537 | 2 | - | - |
| PCDHB14 | p.D128N | Missense | SNP | 0.480 | 2 | - | - |
| PCDHB2 | p.G327R | Missense | SNP | 0.518 | 2 | - | - |
| PCDHB4 | p.S517L | Missense | SNP | 0.396 | 2 | - | - |
| PCDHGA1 | p.V643M | Missense | SNP | 0.425 | 2 | - | - |
| PCDHGA12 | p.R80H | Missense | SNP | 0.457 | 2 | - | - |
| PCDHGA4 | p.G409E p.E444K | Missense Missense | SNP SNP | 0.477 0.492 | 2 | - | - |
| PCDHGA5 | p.I288Ffs*33 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
| PCDHGA6 | p.A206V p.L621P | Missense Missense | SNP SNP | 0.484 0.333 | 2 | - | - |
| PCDHGA8 | p.G275R | Missense | SNP | 0.513 | 2 | - | - |
| PCDHGB6 | p.V578A | Missense | SNP | 0.524 | 2 | - | - |
| PCED1B | p.S129F p.N145S | Missense Missense | SNP SNP | 0.492 0.482 | 2 | - | - |
| PCID2 | - | - | - | - | 3 | Gain | - |
| PCIF1 | - | - | - | - | 3 | Gain | - |
| PCK1 | - | - | - | - | 3 | Gain | - |
| PCLO | p.K5063Rfs*2 p.R5076Q p.S4957N p.G3427R;p.M3426I p.N2707D p.E811K | Frame_Shift_Del Missense Missense Missense Missense Missense | DEL SNP SNP MNP SNP SNP | 0.333 0.484 0.416 0.454 0.397 0.494 | 2 | - | - |
| PCM1 | - | - | - | - | 1 | Loss | - |
| PCMTD1 | p.R253H | Missense | SNP | 0.182 | 3 | Gain | - |
| PCMTD2 | - | - | - | - | 1 | Loss | - |
| PCSK7 | - | - | - | - | 1 | Loss | - |
| PDCD1LG2 | - | - | - | - | 1 | Loss | - |
| PDCD6 | - | - | - | - | 3 | Gain | - |
| PDCD6IP | - | - | - | - | 1 | Loss | - |
| PDE10A | p.S677F | Missense | SNP | 0.497 | 2 | - | - |
| PDE12 | - | - | - | - | 1 | Loss | - |
| PDE4C | p.T225I | Missense | SNP | 0.528 | 2 | - | - |
| PDE7A | p.R48H | Missense | SNP | 0.289 | 3 | Gain | - |
| PDGFRL | - | - | - | - | 1 | Loss | - |
| PDHB | - | - | - | - | 1 | Loss | - |
| PDLIM2 | - | - | - | - | 1 | Loss | - |
| PDLIM3 | p.P100S | Missense | SNP | 0.494 | 2 | - | - |
| PDLIM5 | p.V233L | Missense | SNP | 0.352 | 2 | - | - |
| PDP1 | p.Y224* | Frame_Shift_Del | DEL | 0.340 | 3 | Gain | - |
| PDPR | p.L268F | Missense | SNP | 0.299 | 2 | - | - |
| PDS5B | - | - | - | - | 3 | Gain | - |
| PDSS1 | - | - | - | - | 1 | Loss | - |
| PDX1 | - | - | - | - | 3 | Gain | - |
| PDZD2 | p.C1191F | Missense | SNP | 0.723 | 4 | Gain | - |
| PDZD3 | - | - | - | - | 1 | Loss | - |
| PDZRN3 | - | - | - | - | 1 | Loss | - |
| PEBP4 | - | - | - | - | 1 | Loss | - |
| PEG3 | p.K497T | Missense | SNP | 0.521 | 2 | - | - |
| PENK | - | - | - | - | 3 | Gain | - |
| PES1 | p.P125S | Missense | SNP | 0.435 | 2 | - | - |
| PEX11G | p.P241S | Missense | SNP | 0.342 | 2 | - | - |
| PEX2 | - | - | - | - | 3 | Gain | - |
| PFDN4 | - | - | - | - | 3 | Gain | - |
| PFKFB2 | p.G315E | Missense | SNP | 0.457 | 2 | - | - |
| PFKFB4 | - | - | - | - | 1 | Loss | - |
| PHACTR3 | - | - | - | - | 1 | Loss | - |
| PHETA2 | - | - | - | - | 3 | Gain | - |
| PHEX | p.G575E | Missense | SNP | 1.000 | ND | ND | - |
| PHF11 | - | - | - | - | 3 | Gain | - |
| PHF14 | p.P812L | Missense | SNP | 0.476 | 2 | - | - |
| PHF19 | p.S126L | Missense | SNP | 1.000 | 2 | - | - |
| PHF20 | - | - | - | - | 3 | Gain | - |
| PHF20L1 | p.I826* | Frame_Shift_Del | DEL | 0.674 | 3 | Gain | - |
| PHF21B | - | - | - | - | 3 | Gain | - |
| PHF24 | - | - | - | - | 1 | Loss | - |
| PHF5A | - | - | - | - | 3 | Gain | - |
| PHF7 | - | - | - | - | 1 | Loss | - |
| PHGR1 | p.H37Tfs*71 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
| PHLDA1 | p.K248Sfs*8 | Frame_Shift_Del | DEL | 0.376 | 2 | - | - |
| PHLDB1 | - | - | - | - | 1 | Loss | - |
| PHYHIP | - | - | - | - | 1 | Loss | - |
| PI15 | - | - | - | - | 3 | Gain | - |
| PI3 | - | - | - | - | 3 | Gain | - |
| PIANP | p.R49K | Missense | SNP | 0.578 | 2 | - | - |
| PIBF1 | - | - | - | - | 3 | Gain | - |
| PIEZO2 | p.Q1534Afs*8 p.S2468R | Frame_Shift_Ins Missense | INS SNP | 0.303 0.440 | 2 | - | - |
| PIGO | - | - | - | - | 1 | Loss | - |
| PIGT | - | - | - | - | 3 | Gain | - |
| PIGU | - | - | - | - | 3 | Gain | - |
| PIH1D2 | - | - | - | - | 1 | Loss | - |
| PIK3R3 | p.E254K | Missense | SNP | 0.489 | 2 | - | - |
| PIK3R4 | p.P420S | Missense | SNP | 0.514 | 2 | - | - |
| PIM3 | - | - | - | - | 3 | Gain | - |
| PINX1 | - | - | - | - | 1 | Loss | - |
| PIP4K2A | - | - | - | - | 1 | Loss | - |
| PIP4P2 | - | - | - | - | 3 | Gain | - |
| PIP5K1A | p.D189E | Missense | SNP | 0.533 | 2 | - | - |
| PITPNM1 | p.W803* | Nonsense | SNP | 0.500 | 2 | - | - |
| PITPNM2 | p.M203I | Missense | SNP | 0.412 | 2 | - | - |
| PIWIL2 | - | - | - | - | 1 | Loss | - |
| PIWIL3 | p.D109H | Missense | SNP | 0.452 | 2 | - | - |
| PKDREJ | - | - | - | - | 3 | Gain | - |
| PKHD1L1 | p.K2189Nfs*27 | Frame_Shift_Del | DEL | 0.561 | 3 | Gain | - |
| PKIA | - | - | - | - | 3 | Gain | - |
| PKIG | - | - | - | - | 3 | Gain | - |
| PKNOX2 | - | - | - | - | 1 | Loss | - |
| PKP2 | p.E675K p.R204C | Missense Missense | SNP SNP | 0.385 0.443 | 2 | - | - |
| PLAA | - | - | - | - | 1 | Loss | - |
| PLAG1 | - | - | - | - | 3 | Gain | - |
| PLAGL2 | p.W11Gfs*15 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| PLAT | - | - | - | - | 1 | Loss | - |
| PLCD1 | - | - | - | - | 1 | Loss | - |
| PLCG1 | - | - | - | - | 3 | Gain | - |
| PLCH1 | p.L440I | Missense | SNP | 0.577 | 2 | - | - |
| PLCL2 | - | - | - | - | 1 | Loss | - |
| PLCXD3 | - | - | - | - | 4 | Gain | - |
| PLEC | - | - | - | - | 3 | Gain | - |
| PLEKHA2 | - | - | - | - | 1 | Loss | - |
| PLEKHF2 | - | - | - | - | 3 | Gain | - |
| PLEKHG1 | p.G161E p.A802T | Missense Missense | SNP SNP | 0.529 0.435 | 2 | - | - |
| PLEKHG2 | p.Q1322Sfs*37 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| PLEKHG4B | - | - | - | - | 3 | Gain | - |
| PLEKHM3 | p.Q414* | Nonsense | SNP | 0.598 | 2 | - | - |
| PLET1 | - | - | - | - | 1 | Loss | - |
| PLGRKT | - | - | - | - | 1 | Loss | - |
| PLIN2 | - | - | - | - | 1 | Loss | - |
| PLIN4 | p.A149V | Missense | SNP | 0.437 | 2 | - | - |
| PLK3 | p.A453T | Missense | SNP | 0.473 | 2 | - | - |
| PLPBP | - | - | - | - | 1 | Loss | - |
| PLPP5 | - | - | - | - | 1 | Loss | - |
| PLPP6 | - | - | - | - | 1 | Loss | - |
| PLPP7 | p.G97E | Missense | SNP | 1.000 | 2 | - | - |
| PLTP | - | - | - | - | 3 | Gain | - |
| PLVAP | p.S18F | Missense | SNP | 0.449 | 2 | - | - |
| PLXDC2 | - | - | - | - | 1 | Loss | - |
| PLXNA4 | p.V605I p.D351N | Missense Missense | SNP SNP | 0.455 0.406 | 2 | - | - |
| PLXNB1 | - | - | - | - | 1 | Loss | - |
| PLXNB2 | p.T1532M | Missense | SNP | 0.688 | 3 | Gain | - |
| PMEPA1 | - | - | - | - | 3 | Gain | - |
| PML | p.A602T | Missense | SNP | 0.511 | 2 | - | - |
| PMM1 | - | - | - | - | 3 | Gain | - |
| PMP2 | - | - | - | - | 3 | Gain | - |
| PNLIP | p.K86I | Missense | MNP | 0.485 | 2 | - | - |
| PNMA2 | - | - | - | - | 1 | Loss | - |
| PNOC | - | - | - | - | 1 | Loss | - |
| PNPLA3 | - | - | - | - | 3 | Gain | - |
| PNPLA5 | - | - | - | - | 3 | Gain | - |
| POC1A | - | - | - | - | 1 | Loss | - |
| POGLUT1 | p.A339V | Missense | SNP | 0.446 | 2 | - | - |
| POLB | - | - | - | - | 1 | Loss | - |
| POLD1 | p.R667W | Missense | SNP | 0.519 | 2 | - | - |
| POLDIP3 | - | - | - | - | 3 | Gain | - |
| POLN | p.K132R | Missense | SNP | 0.478 | 2 | - | - |
| POLR1B | p.P569S | Missense | SNP | 0.455 | 2 | - | - |
| POLR1D | - | - | - | - | 3 | Gain | - |
| POLR1E | - | - | - | - | 1 | Loss | - |
| POLR2J | - | - | - | - | 1 | Loss | - |
| POLR2J2 | - | - | - | - | 1 | Loss | - |
| POLR2J3 | - | - | - | - | 1 | Loss | - |
| POLR2K | - | - | - | - | 3 | Gain | - |
| POLR3D | - | - | - | - | 1 | Loss | - |
| POLR3H | - | - | - | - | 3 | Gain | - |
| POM121L12 | p.P46S | Missense | SNP | 0.520 | 2 | - | - |
| POM121L2 | p.P60L | Missense | MNP | 0.490 | 2 | - | - |
| POMGNT2 | - | - | - | - | 1 | Loss | - |
| POMK | - | - | - | - | 1 | Loss | - |
| POMP | - | - | - | - | 3 | Gain | - |
| POP1 | - | - | - | - | 3 | Gain | - |
| POSTN | - | - | - | - | 3 | Gain | - |
| POTED | - | - | - | - | 1 | Loss | - |
| POU2AF1 | - | - | - | - | 1 | Loss | - |
| POU2F3 | - | - | - | - | 1 | Loss | - |
| POU3F4 | p.G149R | Missense | SNP | 1.000 | ND | ND | - |
| POU4F1 | - | - | - | - | 3 | Gain | - |
| POU5F1B | - | - | - | - | 3 | Gain | - |
| PP2D1 | - | - | - | - | 1 | Loss | - |
| PPARA | - | - | - | - | 3 | Gain | - |
| PPARG | - | - | - | - | 1 | Loss | - |
| PPARGC1A | p.G290E | Missense | SNP | 0.434 | 2 | - | - |
| PPARGC1B | p.L361Q | Missense | SNP | 0.532 | 2 | - | - |
| PPDPF | - | - | - | - | 1 | Loss | - |
| PPDPFL | - | - | - | - | 3 | Gain | - |
| PPFIA3 | p.G595K | Missense | MNP | 0.438 | 2 | - | - |
| PPFIBP1 | p.P572L | Missense | SNP | 0.453 | 2 | - | - |
| PPM1K | p.T327I | Missense | SNP | 0.477 | 2 | - | - |
| PPM1M | - | - | - | - | 1 | Loss | - |
| PPP1R13B | p.G111* | Nonsense | SNP | 0.446 | 2 | - | - |
| PPP1R16A | - | - | - | - | 3 | Gain | - |
| PPP1R16B | - | - | - | - | 3 | Gain | - |
| PPP1R2P3 | p.M78I | Missense | SNP | 0.410 | ND | ND | - |
| PPP1R3B | - | - | - | - | 1 | Loss | - |
| PPP1R3D | - | - | - | - | 1 | Loss | - |
| PPP1R42 | - | - | - | - | 3 | Gain | - |
| PPP2CB | - | - | - | - | 1 | Loss | - |
| PPP2R1B | - | - | - | - | 1 | Loss | - |
| PPP2R2A | - | - | - | - | 1 | Loss | - |
| PPP2R2B | p.W412* | Nonsense | SNP | 0.483 | 2 | - | - |
| PPP3CC | - | - | - | - | 1 | Loss | - |
| PPP4R2 | - | - | - | - | 1 | Loss | - |
| PPP4R3A | p.R156H | Missense | SNP | 0.486 | 2 | - | - |
| PPP6R2 | - | - | - | - | 3 | Gain | - |
| PPT1 | p.M57Wfs*14 | Frame_Shift_Del | DEL | 0.327 | 2 | - | - |
| PRAG1 | - | - | - | - | 1 | Loss | - |
| PRB2 | p.P123Hfs*308 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
| PRDM10 | - | - | - | - | 1 | Loss | - |
| PRDM14 | - | - | - | - | 3 | Gain | - |
| PRDM8 | p.L139W | Missense | SNP | 0.528 | 2 | - | - |
| PRDM9 | - | - | - | - | 4 | Gain | - |
| PRELID3B | - | - | - | - | 11 | Amp | - |
| PREX1 | - | - | - | - | 3 | Gain | - |
| PREX2 | - | - | - | - | 3 | Gain | - |
| PRH1 | p.R46H | Missense | SNP | 0.142 | 2 | - | - |
| PRH2 | p.R46H | Missense | SNP | 0.267 | 2 | - | - |
| PRICKLE2 | - | - | - | - | 1 | Loss | - |
| PRKAA1 | - | - | - | - | 4 | Gain | - |
| PRKACA | p.D291N | Missense | SNP | 0.441 | 2 | - | - |
| PRKACG | p.G32Efs*27 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
| PRKAR2A | - | - | - | - | 1 | Loss | - |
| PRKCD | - | - | - | - | 1 | Loss | - |
| PRKCQ | p.E137D | Missense | SNP | 0.092 | 2 | - | - |
| PRKCSH | p.E503K | Missense | SNP | 0.533 | 2 | - | - |
| PRKCZ | p.G130N | Missense | MNP | 0.254 | 2 | - | - |
| PRKDC | - | - | - | - | 3 | Gain | - |
| PRKG2 | p.G646S p.H106Y | Missense Missense | SNP SNP | 0.403 0.470 | 2 | - | - |
| PRLR | p.P83L | Missense | SNP | 0.293 | 4 | Gain | - |
| PRMT8 | p.S31Pfs*35 | Frame_Shift_Del | DEL | 0.511 | 2 | - | - |
| PRMT9 | p.E309D | Missense | SNP | 0.430 | 2 | - | - |
| PROCR | - | - | - | - | 3 | Gain | - |
| PROK2 | - | - | - | - | 1 | Loss | - |
| PROKR2 | p.E308K | Missense | SNP | 0.501 | 2 | - | - |
| PROSER1 | p.A895S | Missense | SNP | 0.328 | 3 | Gain | - |
| PROX2 | p.G202K | Missense | MNP | 0.518 | 2 | - | - |
| PROZ | - | - | - | - | 3 | Gain | - |
| PRPF18 | p.I297F | Missense | SNP | 0.117 | 2 | - | - |
| PRPF6 | p.R135C | Missense | SNP | 0.985 | 1 | Loss | - |
| PRR13 | p.E144K | Missense | SNP | 0.506 | 2 | - | - |
| PRR23D1 | - | - | - | - | 1 | Loss | - |
| PRR23D2 | - | - | - | - | 1 | Loss | - |
| PRR32 | p.P264S | Missense | SNP | 1.000 | ND | ND | - |
| PRR5 | - | - | - | - | 3 | Gain | - |
| PRR5-ARHGAP8 | - | - | - | - | 3 | Gain | - |
| PRRC2B | p.V1093Sfs*77 | Frame_Shift_Del | DEL | 0.954 | 2 | - | - |
| PRRT3 | - | - | - | - | 1 | Loss | - |
| PRSS12 | p.R171* | Nonsense | SNP | 0.549 | 2 | - | - |
| PRSS3 | - | - | - | - | 1 | Loss | - |
| PRSS42 | - | - | - | - | 1 | Loss | - |
| PRSS45 | - | - | - | - | 1 | Loss | - |
| PRSS50 | - | - | - | - | 1 | Loss | - |
| PRSS55 | - | - | - | - | 1 | Loss | - |
| PRTFDC1 | - | - | - | - | 1 | Loss | - |
| PRUNE2 | p.R583K | Missense | SNP | 0.416 | 2 | - | - |
| PSCA | - | - | - | - | 3 | Gain | - |
| PSD | p.S75Hfs*37 p.R112K | Frame_Shift_Del Missense | DEL SNP | 0.414 0.439 | 2 | - | - |
| PSD3 | - | - | - | - | 1 | Loss | - |
| PSD4 | p.G197R p.G378R | Missense Missense | SNP SNP | 0.586 0.208 | 2 | - | - |
| PSG11 | p.Y210H | Missense | SNP | 0.512 | 2 | - | - |
| PSG8 | p.W181* | Nonsense | SNP | 0.461 | 2 | - | - |
| PSIP1 | - | - | - | - | 1 | Loss | - |
| PSKH2 | - | - | - | - | 3 | Gain | - |
| PSMA7 | - | - | - | - | 1 | Loss | - |
| PSMD6 | - | - | - | - | 1 | Loss | - |
| PTCHD3 | - | - | - | - | 1 | Loss | - |
| PTDSS1 | - | - | - | - | 3 | Gain | - |
| PTF1A | - | - | - | - | 1 | Loss | - |
| PTGER2 | p.E294K | Missense | SNP | 0.442 | 2 | - | - |
| PTGER4 | - | - | - | - | 4 | Gain | - |
| PTGES3L-AARSD1 | p.A49V | Missense | SNP | 0.556 | 2 | - | - |
| PTGIS | - | - | - | - | 3 | Gain | - |
| PTH1R | - | - | - | - | 1 | Loss | - |
| PTK2 | - | - | - | - | 3 | Gain | - |
| PTK2B | - | - | - | - | 1 | Loss | - |
| PTK6 | - | - | - | - | 1 | Loss | - |
| PTP4A3 | - | - | - | - | 3 | Gain | - |
| PTPN1 | - | - | - | - | 3 | Gain | - |
| PTPN21 | p.L1050Rfs*14 | Frame_Shift_Del | DEL | 0.346 | 2 | - | - |
| PTPN23 | - | - | - | - | 1 | Loss | - |
| PTPRC | p.S458* | Nonsense | SNP | 0.075 | 2 | - | - |
| PTPRD | - | - | - | - | 1 | Loss | - |
| PTPRG | - | - | - | - | 1 | Loss | - |
| PTPRN | p.G31Afs*75 | Frame_Shift_Del | DEL | 0.581 | 2 | - | - |
| PTPRQ | p.Q1651* | Nonsense | SNP | 0.569 | 2 | - | - |
| PTPRT | - | - | - | - | 3 | Gain | - |
| PTPRU | p.L557M | Missense | SNP | 0.448 | 2 | - | - |
| PTPRZ1 | p.S2081F | Missense | SNP | 0.355 | 2 | - | - |
| PTS | p.M71I | Missense | SNP | 1.000 | 1 | Loss | - |
| PUF60 | - | - | - | - | 3 | Gain | - |
| PUM3 | - | - | - | - | 1 | Loss | - |
| PURG | p.R297H | Missense | SNP | 0.906 | 1 | Loss | - |
| PUS3 | - | - | - | - | 1 | Loss | - |
| PXDN | p.H1423Y | Missense | SNP | 0.486 | 2 | - | - |
| PXDNL | - | - | - | - | 3 | Gain | - |
| PXK | - | - | - | - | 1 | Loss | - |
| PYCR3 | - | - | - | - | 3 | Gain | - |
| PYHIN1 | p.R211* | Nonsense | SNP | 0.503 | 2 | - | - |
| QARS | - | - | - | - | 1 | Loss | - |
| QKI | p.K134Rfs*14 | Frame_Shift_Del | DEL | 0.630 | 2 | - | - |
| QPCT | p.V29Sfs*20 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
| QRICH1 | - | - | - | - | 1 | Loss | - |
| R3HCC1 | p.Q221P | Missense | SNP | 1.000 | 1 | Loss | - |
| R3HDML | - | - | - | - | 3 | Gain | - |
| RAB11FIP1 | p.A415Qfs*25 | Frame_Shift_Del | DEL | 0.914 | 1 | Loss | - |
| RAB18 | - | - | - | - | 1 | Loss | - |
| RAB20 | - | - | - | - | 3 | Gain | - |
| RAB22A | - | - | - | - | 3 | Gain | - |
| RAB2A | - | - | - | - | 3 | Gain | - |
| RAB39A | - | - | - | - | 1 | Loss | - |
| RAB40B | p.T244P | Missense | SNP | 0.531 | 2 | - | - |
| RAB5A | - | - | - | - | 1 | Loss | - |
| RAB5IF | - | - | - | - | 3 | Gain | - |
| RABGGTB | p.X1_splice | Splice_Site | DEL | 0.406 | 2 | - | - |
| RABL6 | p.P294S | Missense | SNP | 1.000 | 2 | - | - |
| RAD1 | - | - | - | - | 4 | Gain | - |
| RAD18 | - | - | - | - | 1 | Loss | - |
| RAD21 | - | - | - | - | 3 | Gain | - |
| RAD54B | - | - | - | - | 3 | Gain | - |
| RAD54L2 | p.F1309Sfs*34 | Frame_Shift_Del | DEL | 0.979 | 1 | Loss | - |
| RADIL | p.G179E | Missense | SNP | 0.418 | 2 | - | - |
| RAE1 | - | - | - | - | 3 | Gain | - |
| RAF1 | p.R391G | Missense | SNP | 0.989 | 1 | Loss | - |
| RAI14 | - | - | - | - | 4 | Gain | - |
| RALGAPB | - | - | - | - | 3 | Gain | - |
| RALYL | - | - | - | - | 3 | Gain | - |
| RANBP17 | p.P323S | Missense | SNP | 0.523 | 2 | - | - |
| RANBP3L | - | - | - | - | 4 | Gain | - |
| RANBP6 | - | - | - | - | 1 | Loss | - |
| RANGAP1 | - | - | - | - | 3 | Gain | - |
| RANGRF | p.E156K | Missense | SNP | 0.560 | 2 | - | - |
| RAP2A | - | - | - | - | 3 | Gain | - |
| RAPGEF1 | p.P236L | Missense | SNP | 1.000 | 2 | - | - |
| RAPGEF3 | p.D161Y | Missense | SNP | 0.431 | 2 | - | - |
| RARB | - | - | - | - | 1 | Loss | - |
| RASA3 | - | - | - | - | 3 | Gain | - |
| RASA4 | - | - | - | - | 1 | Loss | - |
| RASA4B | - | - | - | - | 1 | Loss | - |
| RASAL1 | p.A668V | Missense | SNP | 0.396 | 2 | - | - |
| RASGEF1C | p.T21Pfs*26 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
| RASGRF1 | p.E553K | Missense | SNP | 0.492 | 2 | - | - |
| RASGRF2 | p.A34T p.L968F | Missense Missense | SNP SNP | 0.447 0.449 | 2 | - | - |
| RASL11A | - | - | - | - | 3 | Gain | - |
| RASSF1 | - | - | - | - | 1 | Loss | - |
| RASSF2 | p.Q6* | Nonsense | SNP | 0.432 | 2 | - | - |
| RAVER1 | p.R73C | Missense | SNP | 0.486 | 2 | - | - |
| RB1 | - | - | - | - | 3 | Gain | - |
| RB1CC1 | - | - | - | - | 3 | Gain | - |
| RBBP8NL | - | - | - | - | 1 | Loss | - |
| RBL1 | - | - | - | - | 3 | Gain | - |
| RBM11 | - | - | - | - | 1 | Loss | - |
| RBM12 | - | - | - | - | 3 | Gain | - |
| RBM12B | - | - | - | - | 3 | Gain | - |
| RBM15 | p.D660G | Missense | SNP | 0.055 | 2 | - | - |
| RBM15B | - | - | - | - | 1 | Loss | - |
| RBM19 | p.A918V | Missense | SNP | 0.568 | 2 | - | - |
| RBM25 | p.V842A | Missense | SNP | 0.531 | 2 | - | - |
| RBM26 | - | - | - | - | 3 | Gain | - |
| RBM38 | - | - | - | - | 3 | Gain | - |
| RBM39 | - | - | - | - | 3 | Gain | - |
| RBM5 | - | - | - | - | 1 | Loss | - |
| RBM6 | - | - | - | - | 1 | Loss | - |
| RBM7 | - | - | - | - | 1 | Loss | - |
| RBMS3 | - | - | - | - | 1 | Loss | - |
| RBMXL3 | p.G626R | Missense | SNP | 1.000 | ND | ND | - |
| RBPJL | - | - | - | - | 3 | Gain | - |
| RBPMS | - | - | - | - | 1 | Loss | - |
| RBSN | - | - | - | - | 1 | Loss | - |
| RBX1 | - | - | - | - | 3 | Gain | - |
| RCBTB1 | - | - | - | - | 3 | Gain | - |
| RCBTB2 | - | - | - | - | 3 | Gain | - |
| RCC1L | p.S186F | Missense | SNP | 0.458 | 2 | - | - |
| RCL1 | - | - | - | - | 1 | Loss | - |
| RDH10 | - | - | - | - | 3 | Gain | - |
| RDX | - | - | - | - | 1 | Loss | - |
| RECK | - | - | - | - | 1 | Loss | - |
| RECQL | p.K80* | Nonsense | SNP | 0.479 | 2 | - | - |
| RECQL4 | p.A204G | Missense | SNP | 0.302 | 3 | Gain | - |
| REEP4 | - | - | - | - | 1 | Loss | - |
| REG1B | p.S108F | Missense | SNP | 0.413 | 2 | - | - |
| REG4 | p.A16S | Missense | SNP | 0.424 | 2 | - | - |
| RELN | p.W1654* | Nonsense | SNP | 0.396 | 2 | - | - |
| REPIN1 | p.S430Pfs*? | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
| RETREG1 | - | - | - | - | 4 | Gain | - |
| REXO1 | p.P476L | Missense | SNP | 0.474 | 2 | - | - |
| REXO2 | - | - | - | - | 1 | Loss | - |
| RFC1 | p.N510Mfs*33 p.E1097K | Frame_Shift_Del Missense | DEL SNP | 0.062 0.500 | 2 | - | - |
| RFC3 | - | - | - | - | 3 | Gain | - |
| RFT1 | - | - | - | - | 1 | Loss | - |
| RFTN1 | - | - | - | - | 1 | Loss | - |
| RFX3 | p.I376V p.Q303* | Missense Nonsense | SNP SNP | 1.000 1.000 | 1 | Loss | - |
| RFX6 | p.S381F | Missense | SNP | 0.563 | 2 | - | - |
| RFXAP | - | - | - | - | 3 | Gain | - |
| RGCC | - | - | - | - | 3 | Gain | - |
| RGP1 | - | - | - | - | 1 | Loss | - |
| RGS12 | p.Q1292Rfs*49 p.K1176E | Frame_Shift_Del Missense | DEL SNP | 0.381 0.559 | 2 | - | - |
| RGS16 | p.E138K | Missense | SNP | 0.526 | 2 | - | - |
| RGS19 | - | - | - | - | 1 | Loss | - |
| RGS20 | - | - | - | - | 3 | Gain | - |
| RGS22 | - | - | - | - | 3 | Gain | - |
| RGS7 | p.R416Q p.T209A | Missense Missense | SNP SNP | 0.542 0.532 | 2 | - | - |
| RGSL1 | p.E309K p.L948F | Missense Missense | SNP SNP | 0.411 0.424 | 2 | - | - |
| RHBDL3 | p.L78F | Missense | SNP | 0.463 | 2 | - | - |
| RHOA | - | - | - | - | 1 | Loss | - |
| RHOBTB1 | p.I56M | Missense | SNP | 0.505 | 2 | - | - |
| RHOBTB2 | - | - | - | - | 1 | Loss | - |
| RHOH | p.K17Efs*47 | Frame_Shift_Ins | INS | 0.318 | 2 | - | - |
| RHPN1 | - | - | - | - | 3 | Gain | - |
| RIBC2 | - | - | - | - | 3 | Gain | - |
| RIC1 | - | - | - | - | 1 | Loss | - |
| RIC3 | p.Y113C | Missense | SNP | 0.528 | 2 | - | - |
| RICTOR | - | - | - | - | 4 | Gain | - |
| RIDA | - | - | - | - | 3 | Gain | - |
| RIMS1 | p.E844K | Missense | SNP | 0.568 | 2 | - | - |
| RIMS2 | - | - | - | - | 3 | Gain | - |
| RIMS4 | - | - | - | - | 3 | Gain | - |
| RIN3 | p.T35I | Missense | SNP | 0.497 | 2 | - | - |
| RIPK2 | - | - | - | - | 3 | Gain | - |
| RIPOR3 | - | - | - | - | 3 | Gain | - |
| RLN1 | - | - | - | - | 1 | Loss | - |
| RLN2 | - | - | - | - | 1 | Loss | - |
| RMDN1 | - | - | - | - | 3 | Gain | - |
| RN7SL1 | - | - | - | - | ND | ND | RN7SL1--GUSB |
| RNA5-8SN2 | - | - | - | - | ND | ND | RNA5-8SN2--KRT5 |
| RNASEH1 | p.S284L | Missense | SNP | 0.510 | 2 | - | - |
| RNASEH2B | - | - | - | - | 3 | Gain | - |
| RNF113A | p.Y244C | Missense | SNP | 1.000 | ND | ND | - |
| RNF113B | - | - | - | - | 3 | Gain | - |
| RNF114 | - | - | - | - | 3 | Gain | - |
| RNF122 | - | - | - | - | 1 | Loss | - |
| RNF123 | - | - | - | - | 1 | Loss | - |
| RNF139 | - | - | - | - | 3 | Gain | - |
| RNF17 | - | - | - | - | 3 | Gain | - |
| RNF170 | - | - | - | - | 1 | Loss | - |
| RNF19A | - | - | - | - | 3 | Gain | - |
| RNF214 | - | - | - | - | 1 | Loss | - |
| RNF219 | - | - | - | - | 3 | Gain | - |
| RNF26 | - | - | - | - | 1 | Loss | - |
| RNF38 | - | - | - | - | 1 | Loss | - |
| RNF6 | - | - | - | - | 3 | Gain | - |
| RNGTT | p.R330C | Missense | SNP | 0.522 | 2 | - | - |
| ROBO1 | - | - | - | - | 1 | Loss | - |
| ROBO2 | - | - | - | - | 1 | Loss | - |
| ROBO3 | - | - | - | - | 1 | Loss | - |
| ROBO4 | - | - | - | - | 1 | Loss | - |
| ROCK1 | p.Y141Mfs*12 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
| ROMO1 | - | - | - | - | 3 | Gain | - |
| ROPN1L | - | - | - | - | 4 | Gain | - |
| RP1 | p.L76Sfs*5 p.D611N | Frame_Shift_Del Missense | DEL SNP | 0.636 0.639 | 3 | Gain | - |
| RP11-766F14.2 | p.R1333* | Nonsense | SNP | 0.462 | ND | ND | - |
| RP11-80H18.3 | p.M34V | Missense | SNP | 1.000 | ND | ND | - |
| RP1L1 | - | - | - | - | 1 | Loss | - |
| RPAP3 | p.E122K | Missense | SNP | 0.454 | 2 | - | - |
| RPL14 | - | - | - | - | 1 | Loss | - |
| RPL15 | - | - | - | - | 1 | Loss | - |
| RPL21 | - | - | - | - | 3 | Gain | - |
| RPL30 | - | - | - | - | 3 | Gain | - |
| RPL32 | - | - | - | - | 1 | Loss | - |
| RPL37 | - | - | - | - | 4 | Gain | - |
| RPL7 | - | - | - | - | 3 | Gain | - |
| RPL8 | - | - | - | - | 3 | Gain | - |
| RPN2 | - | - | - | - | 3 | Gain | - |
| RPP14 | - | - | - | - | 1 | Loss | - |
| RPP25L | - | - | - | - | 1 | Loss | - |
| RPRD1B | - | - | - | - | 3 | Gain | - |
| RPS2 | p.V128A | Missense | SNP | 0.454 | 2 | - | - |
| RPS20 | - | - | - | - | 3 | Gain | - |
| RPS21 | - | - | - | - | 1 | Loss | - |
| RPS25 | - | - | - | - | 1 | Loss | - |
| RPS6 | - | - | - | - | 1 | Loss | - |
| RPS6KA6 | p.S19G | Missense | SNP | 1.000 | ND | ND | - |
| RPSA | - | - | - | - | 1 | Loss | - |
| RPUSD3 | - | - | - | - | 1 | Loss | - |
| RPUSD4 | - | - | - | - | 1 | Loss | - |
| RRAGA | - | - | - | - | 1 | Loss | - |
| RREB1 | p.E1502Rfs*81 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
| RRH | p.G109R | Missense | SNP | 0.095 | 2 | - | - |
| RRM1 | p.L645F | Missense | SNP | 0.442 | 2 | - | - |
| RRM2B | - | - | - | - | 3 | Gain | - |
| RRP12 | p.P523S | Missense | SNP | 0.500 | 2 | - | - |
| RRP7A | - | - | - | - | 3 | Gain | - |
| RRP9 | - | - | - | - | 1 | Loss | - |
| RRS1 | - | - | - | - | 3 | Gain | - |
| RSPO1 | p.E231K | Missense | SNP | 0.408 | 2 | - | - |
| RSPO2 | - | - | - | - | 3 | Gain | - |
| RTEL1 | - | - | - | - | 1 | Loss | - |
| RTEL1-TNFRSF6B | - | - | - | - | 1 | Loss | - |
| RTF2 | - | - | - | - | 3 | Gain | - |
| RTL6 | - | - | - | - | 3 | Gain | - |
| RTN1 | p.M10I | Missense | SNP | 0.568 | 2 | - | - |
| RTN2 | p.R79M | Missense | SNP | 0.464 | 2 | - | - |
| RTP3 | - | - | - | - | 1 | Loss | - |
| RUBCNL | - | - | - | - | 3 | Gain | - |
| RUNX1T1 | - | - | - | - | 3 | Gain | - |
| RUSC2 | - | - | - | - | 1 | Loss | - |
| RXFP2 | - | - | - | - | 3 | Gain | - |
| RXFP3 | - | - | - | - | 4 | Gain | - |
| RYBP | - | - | - | - | 1 | Loss | - |
| RYR1 | p.G700S | Missense | SNP | 0.436 | 2 | - | - |
| RYR3 | p.G255E | Missense | SNP | 0.447 | 2 | - | - |
| SACM1L | - | - | - | - | 1 | Loss | - |
| SACS | p.I1110Lfs*16 | Frame_Shift_Del | DEL | 0.300 | 3 | Gain | - |
| SALL3 | p.R1148W p.P1239S | Missense Missense | SNP SNP | 0.532 0.429 | 2 | - | - |
| SALL4 | - | - | - | - | 3 | Gain | - |
| SAMD10 | - | - | - | - | 1 | Loss | - |
| SAMD12 | - | - | - | - | 3 | Gain | - |
| SAMD14 | p.Y371H | Missense | SNP | 0.451 | 2 | - | - |
| SAMD9 | p.A364V | Missense | SNP | 0.597 | 2 | - | - |
| SAMHD1 | - | - | - | - | 3 | Gain | - |
| SAMM50 | - | - | - | - | 3 | Gain | - |
| SAP18 | - | - | - | - | 3 | Gain | - |
| SARAF | - | - | - | - | 1 | Loss | - |
| SARDH | p.G809R | Missense | SNP | 1.000 | 2 | - | - |
| SATB1 | - | - | - | - | 1 | Loss | - |
| SAXO1 | - | - | - | - | 1 | Loss | - |
| SBF1 | - | - | - | - | 3 | Gain | - |
| SBK2 | p.A299V | Missense | SNP | 0.542 | 2 | - | - |
| SBSPON | - | - | - | - | 3 | Gain | - |
| SC5D | - | - | - | - | 1 | Loss | - |
| SCAND1 | - | - | - | - | 3 | Gain | - |
| SCAP | - | - | - | - | 1 | Loss | - |
| SCARA3 | - | - | - | - | 1 | Loss | - |
| SCARA5 | - | - | - | - | 1 | Loss | - |
| SCARB1 | p.P304L | Missense | SNP | 0.474 | 2 | - | - |
| SCEL | - | - | - | - | 3 | Gain | - |
| SCN10A | - | - | - | - | 1 | Loss | - |
| SCN11A | - | - | - | - | 1 | Loss | - |
| SCN2B | - | - | - | - | 1 | Loss | - |
| SCN3B | - | - | - | - | 1 | Loss | - |
| SCN4A | p.N333S | Missense | SNP | 0.487 | 2 | - | - |
| SCN4B | - | - | - | - | 1 | Loss | - |
| SCN5A | - | - | - | - | 1 | Loss | - |
| SCN9A | p.P839L | Missense | SNP | 0.468 | 2 | - | - |
| SCO2 | - | - | - | - | 3 | Gain | - |
| SCP2 | p.G320R | Missense | SNP | 0.371 | 2 | - | - |
| SCRIB | - | - | - | - | 3 | Gain | - |
| SCRT1 | - | - | - | - | 3 | Gain | - |
| SCUBE1 | - | - | - | - | 3 | Gain | - |
| SCUBE2 | p.V625I | Missense | SNP | 0.470 | 2 | - | - |
| SDC2 | - | - | - | - | 3 | Gain | - |
| SDC3 | p.P308L | Missense | SNP | 0.546 | 2 | - | - |
| SDC4 | - | - | - | - | 3 | Gain | - |
| SDCBP | - | - | - | - | 3 | Gain | - |
| SDF4 | p.G27R | Missense | SNP | 0.510 | 2 | - | - |
| SDHA | - | - | - | - | 3 | Gain | - |
| SDHD | - | - | - | - | 1 | Loss | - |
| SDK1 | p.E1324K | Missense | SNP | 0.535 | 2 | - | - |
| SDK2 | p.R2017Gfs*28 p.D1888N | Frame_Shift_Del Missense | DEL SNP | 0.459 0.431 | 2 | - | - |
| SDPR | p.R82* | Nonsense | SNP | 0.475 | ND | ND | - |
| SDR16C5 | - | - | - | - | 3 | Gain | - |
| SEC13 | - | - | - | - | 1 | Loss | - |
| SEC22C | - | - | - | - | 1 | Loss | - |
| SEC24B | p.G916E | Missense | SNP | 0.500 | 2 | - | - |
| SEC24C | p.T342Yfs*39 | Frame_Shift_Ins | INS | 0.332 | 2 | - | - |
| SEC61B | p.M55Cfs*22 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
| SELENOK | - | - | - | - | 1 | Loss | - |
| SELENOO | - | - | - | - | 3 | Gain | - |
| SELENOP | - | - | - | - | 4 | Gain | - |
| SEMA3B | - | - | - | - | 1 | Loss | - |
| SEMA3E | p.L314Cfs*11 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
| SEMA3F | - | - | - | - | 1 | Loss | - |
| SEMA3G | - | - | - | - | 1 | Loss | - |
| SEMA5A | - | - | - | - | 4 | Gain | - |
| SEMA5B | p.P1142S | Missense | SNP | 0.393 | 2 | - | - |
| SEMG1 | - | - | - | - | 3 | Gain | - |
| SEMG2 | - | - | - | - | 3 | Gain | - |
| SEPT14 | p.E230G | Missense | SNP | 0.400 | 2 | - | - |
| SEPT3 | - | - | - | - | 3 | Gain | - |
| SERF1A | - | - | - | - | 1 | Loss | - |
| SERF1B | - | - | - | - | 1 | Loss | - |
| SERHL2 | - | - | - | - | 3 | Gain | - |
| SERINC3 | - | - | - | - | 3 | Gain | - |
| SERP2 | - | - | - | - | 3 | Gain | - |
| SERPINA10 | p.K216Q | Missense | SNP | 0.508 | 2 | - | - |
| SERPINA2 | p.V232E | Missense | SNP | 0.476 | ND | ND | - |
| SERPINE3 | - | - | - | - | 3 | Gain | - |
| SERTAD2 | p.R8W | Missense | SNP | 0.578 | 2 | - | - |
| SERTM1 | - | - | - | - | 3 | Gain | - |
| SESTD1 | p.K186N | Missense | SNP | 0.574 | 2 | - | - |
| SETBP1 | p.P981S | Missense | SNP | 0.444 | 2 | - | - |
| SETD2 | - | - | - | - | 1 | Loss | - |
| SETD5 | - | - | - | - | 1 | Loss | - |
| SETDB2 | - | - | - | - | 3 | Gain | - |
| SETMAR | - | - | - | - | 3 | Gain | - |
| SETX | p.R745C | Missense | SNP | 1.000 | 2 | - | - |
| SF3A1 | p.S445F | Missense | SNP | 0.396 | 2 | - | - |
| SF3B1 | p.R238C | Missense | SNP | 0.513 | 2 | - | - |
| SFMBT1 | p.P106L | Missense | SNP | 1.000 | 1 | Loss | - |
| SFRP1 | - | - | - | - | 1 | Loss | - |
| SFTPC | - | - | - | - | 1 | Loss | - |
| SGCG | - | - | - | - | 3 | Gain | - |
| SGCZ | - | - | - | - | 1 | Loss | - |
| SGK2 | - | - | - | - | 3 | Gain | - |
| SGK223 | p.G1140R | Missense | SNP | 0.982 | ND | ND | - |
| SGK3 | - | - | - | - | 3 | Gain | - |
| SGO1 | - | - | - | - | 1 | Loss | - |
| SGO2 | p.F648Sfs*14 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
| SH2D4A | - | - | - | - | 1 | Loss | - |
| SH3BP5 | - | - | - | - | 1 | Loss | - |
| SH3GL2 | - | - | - | - | 1 | Loss | - |
| SH3TC2 | p.V568M | Missense | SNP | 0.557 | 2 | - | - |
| SHANK1 | p.P1511S p.E1465K | Missense Missense | SNP SNP | 0.450 0.373 | 2 | - | - |
| SHANK3 | - | - | - | - | 3 | Gain | - |
| SHARPIN | - | - | - | - | 3 | Gain | - |
| SHB | - | - | - | - | 1 | Loss | - |
| SHC3 | p.G411K | Missense | MNP | 0.383 | 2 | - | - |
| SHISA2 | - | - | - | - | 3 | Gain | - |
| SHISA5 | - | - | - | - | 1 | Loss | - |
| SHISA8 | p.G134Rfs*234 | Frame_Shift_Ins | INS | 0.274 | 3 | Gain | - |
| SHISA9 | p.E56K | Missense | SNP | 0.500 | 2 | - | - |
| SHISAL1 | - | - | - | - | 3 | Gain | - |
| SHQ1 | - | - | - | - | 1 | Loss | - |
| SIAE | - | - | - | - | 1 | Loss | - |
| SIAH3 | p.R119P | Missense | SNP | 0.281 | 3 | Gain | - |
| SIDT2 | - | - | - | - | 1 | Loss | - |
| SIGLEC12 | p.W199C p.N131S | Missense Missense | SNP SNP | 0.505 0.419 | 2 | - | - |
| SIGMAR1 | - | - | - | - | 1 | Loss | - |
| SIK1B | - | - | - | - | 1 | Loss | - |
| SIK2 | - | - | - | - | 1 | Loss | - |
| SIK3 | - | - | - | - | 1 | Loss | - |
| SIPA1 | p.A587T | Missense | SNP | 0.500 | 2 | - | - |
| SIT1 | - | - | - | - | 1 | Loss | - |
| SKA3 | - | - | - | - | 3 | Gain | - |
| SKIDA1 | - | - | - | - | 1 | Loss | - |
| SKOR1 | p.S147G | Missense | SNP | 0.500 | 2 | - | - |
| SKP2 | - | - | - | - | 4 | Gain | - |
| SLA | - | - | - | - | 3 | Gain | - |
| SLA2 | - | - | - | - | 3 | Gain | - |
| SLAIN1 | - | - | - | - | 3 | Gain | - |
| SLC10A2 | - | - | - | - | 3 | Gain | - |
| SLC10A5 | - | - | - | - | 3 | Gain | - |
| SLC12A5 | - | - | - | - | 3 | Gain | - |
| SLC12A7 | - | - | - | - | 4 | Gain | - |
| SLC13A3 | - | - | - | - | 3 | Gain | - |
| SLC13A5 | p.S430F | Missense | SNP | 0.511 | 2 | - | - |
| SLC15A1 | - | - | - | - | 3 | Gain | - |
| SLC17A8 | p.G521R | Missense | SNP | 0.512 | 2 | - | - |
| SLC17A9 | - | - | - | - | 1 | Loss | - |
| SLC18A1 | - | - | - | - | 1 | Loss | - |
| SLC18A2 | p.W451R | Missense | SNP | 0.503 | 2 | - | - |
| SLC1A1 | - | - | - | - | 1 | Loss | - |
| SLC1A3 | - | - | - | - | 4 | Gain | - |
| SLC20A1 | p.D409G | Missense | SNP | 0.502 | 2 | - | - |
| SLC20A2 | - | - | - | - | 1 | Loss | - |
| SLC22A13 | - | - | - | - | 1 | Loss | - |
| SLC22A14 | - | - | - | - | 1 | Loss | - |
| SLC22A15 | p.S500L | Missense | SNP | 0.436 | 2 | - | - |
| SLC22A9 | p.G103R | Missense | SNP | 0.500 | 2 | - | - |
| SLC24A1 | p.P112S | Missense | SNP | 0.496 | 2 | - | - |
| SLC24A2 | - | - | - | - | 1 | Loss | - |
| SLC24A4 | p.E296K | Missense | SNP | 0.571 | 2 | - | - |
| SLC25A15 | - | - | - | - | 3 | Gain | - |
| SLC25A17 | - | - | - | - | 3 | Gain | - |
| SLC25A20 | - | - | - | - | 1 | Loss | - |
| SLC25A24 | p.D176Y | Missense | SNP | 0.443 | 2 | - | - |
| SLC25A26 | - | - | - | - | 1 | Loss | - |
| SLC25A30 | - | - | - | - | 3 | Gain | - |
| SLC25A32 | p.R22Q | Missense | SNP | 0.639 | 3 | Gain | - |
| SLC25A37 | - | - | - | - | 1 | Loss | - |
| SLC25A38 | - | - | - | - | 1 | Loss | - |
| SLC25A39 | p.C334R | Missense | SNP | 0.410 | 2 | - | - |
| SLC25A51 | - | - | - | - | 1 | Loss | - |
| SLC26A2 | p.V162M | Missense | SNP | 0.502 | 2 | - | - |
| SLC26A6 | - | - | - | - | 1 | Loss | - |
| SLC26A7 | - | - | - | - | 3 | Gain | - |
| SLC2A10 | - | - | - | - | 3 | Gain | - |
| SLC2A2 | p.E282Kfs*10 p.Y325C | Frame_Shift_Del Missense | DEL SNP | 0.379 0.534 | 2 | - | - |
| SLC2A4RG | - | - | - | - | 1 | Loss | - |
| SLC30A8 | - | - | - | - | 3 | Gain | - |
| SLC32A1 | - | - | - | - | 3 | Gain | - |
| SLC35C2 | - | - | - | - | 3 | Gain | - |
| SLC35F2 | - | - | - | - | 1 | Loss | - |
| SLC35G5 | - | - | - | - | 1 | Loss | - |
| SLC37A2 | - | - | - | - | 1 | Loss | - |
| SLC37A4 | - | - | - | - | 1 | Loss | - |
| SLC38A3 | - | - | - | - | 1 | Loss | - |
| SLC39A10 | p.Y62Ifs*4 | Frame_Shift_Ins | INS | 0.282 | 2 | - | - |
| SLC39A14 | - | - | - | - | 1 | Loss | - |
| SLC39A4 | - | - | - | - | 3 | Gain | - |
| SLC44A3 | p.L62F | Missense | SNP | 0.585 | 2 | - | - |
| SLC44A4 | p.F618Sfs*25 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
| SLC45A2 | - | - | - | - | 4 | Gain | - |
| SLC45A4 | p.Y586C | Missense | SNP | 0.635 | 3 | Gain | - |
| SLC46A3 | - | - | - | - | 3 | Gain | - |
| SLC4A10 | p.I542M p.L557F | Missense Missense | SNP SNP | 0.484 0.469 | 2 | - | - |
| SLC4A7 | - | - | - | - | 1 | Loss | - |
| SLC52A2 | - | - | - | - | 3 | Gain | - |
| SLC5A7 | p.D469N | Missense | SNP | 0.479 | 2 | - | - |
| SLC6A1 | - | - | - | - | 1 | Loss | - |
| SLC6A11 | - | - | - | - | 1 | Loss | - |
| SLC6A16 | p.T85A | Missense | SNP | 0.491 | 2 | - | - |
| SLC6A18 | - | - | - | - | 4 | Gain | - |
| SLC6A19 | - | - | - | - | 4 | Gain | - |
| SLC6A20 | - | - | - | - | 1 | Loss | - |
| SLC6A3 | p.E36K | Missense | SNP | 0.217 | 4 | Gain | - |
| SLC6A6 | - | - | - | - | 1 | Loss | - |
| SLC7A1 | - | - | - | - | 3 | Gain | - |
| SLC7A13 | - | - | - | - | 3 | Gain | - |
| SLC7A14 | p.P113S p.L27I | Missense Missense | SNP SNP | 0.526 0.512 | 2 | - | - |
| SLC7A2 | - | - | - | - | 1 | Loss | - |
| SLC9A3 | - | - | - | - | 3 | Gain | - |
| SLC9A8 | - | - | - | - | 3 | Gain | - |
| SLC9C1 | p.M95I | Missense | SNP | 0.604 | 2 | - | - |
| SLCO3A1 | p.E667K | Missense | SNP | 0.465 | 2 | - | - |
| SLCO4A1 | - | - | - | - | 1 | Loss | - |
| SLCO5A1 | p.Y222Tfs*6 p.E460Q | Frame_Shift_Del Missense | DEL SNP | 0.588 0.655 | 3 | Gain | - |
| SLFN12 | p.S227F | Missense | SNP | 0.532 | 2 | - | - |
| SLIT2 | p.G909S | Missense | SNP | 0.459 | 2 | - | - |
| SLIT3 | p.K561N p.Q144H | Missense Missense | SNP SNP | 0.559 0.452 | 2 | - | - |
| SLITRK1 | - | - | - | - | 3 | Gain | - |
| SLITRK2 | p.S663Kfs*13 | Frame_Shift_Ins | INS | 0.492 | ND | ND | - |
| SLITRK3 | p.S528F p.G65E | Missense Missense | SNP SNP | 0.357 0.554 | 2 | - | - |
| SLITRK5 | p.S346F p.G441R | Missense Missense | SNP SNP | 0.342 0.696 | 3 | Gain | - |
| SLITRK6 | - | - | - | - | 3 | Gain | - |
| SLMAP | - | - | - | - | 1 | Loss | - |
| SLN | - | - | - | - | 1 | Loss | - |
| SLPI | - | - | - | - | 3 | Gain | - |
| SLURP1 | - | - | - | - | 3 | Gain | - |
| SLURP2 | - | - | - | - | 3 | Gain | - |
| SMAD9 | p.A247S | Missense | SNP | 0.307 | 3 | Gain | - |
| SMARCA2 | - | - | - | - | 1 | Loss | - |
| SMARCC1 | - | - | - | - | 1 | Loss | - |
| SMC1B | p.N191Ifs*2 | Frame_Shift_Del | DEL | 0.347 | 3 | Gain | - |
| SMDT1 | - | - | - | - | 3 | Gain | - |
| SMG1 | p.F3008Lfs*10 p.G2889C | Frame_Shift_Del Missense | DEL SNP | 0.457 0.479 | 2 | - | - |
| SMG7 | p.G647R | Missense | SNP | 0.475 | 2 | - | - |
| SMIM11B | - | - | - | - | 1 | Loss | - |
| SMIM18 | - | - | - | - | 1 | Loss | - |
| SMIM19 | - | - | - | - | 1 | Loss | - |
| SMIM2 | - | - | - | - | 3 | Gain | - |
| SMIM27 | - | - | - | - | 1 | Loss | - |
| SMIM34B | - | - | - | - | 1 | Loss | - |
| SMIM4 | - | - | - | - | 1 | Loss | - |
| SMN1 | - | - | - | - | 1 | Loss | - |
| SMN2 | - | - | - | - | 1 | Loss | - |
| SMOX | p.P236L | Missense | SNP | 0.459 | 2 | - | - |
| SMPD3 | p.R164W | Missense | SNP | 0.570 | 2 | - | - |
| SMU1 | - | - | - | - | 1 | Loss | - |
| SMYD3 | p.Q388Kfs*3 p.S289F | Frame_Shift_Del Missense | DEL SNP | 0.518 0.422 | 2 | - | - |
| SNAI1 | - | - | - | - | 3 | Gain | - |
| SNAI2 | - | - | - | - | 3 | Gain | - |
| SNAPC3 | - | - | - | - | 1 | Loss | - |
| SNRK | - | - | - | - | 1 | Loss | - |
| SNTB1 | p.W212* | Nonsense | SNP | 0.405 | 3 | Gain | - |
| SNTG1 | p.R354Q | Missense | SNP | 0.356 | 3 | Gain | - |
| SNTN | - | - | - | - | 1 | Loss | - |
| SNU13 | - | - | - | - | 3 | Gain | - |
| SNX10 | p.E166Kfs*4 | Frame_Shift_Del | DEL | 0.121 | 2 | - | - |
| SNX16 | - | - | - | - | 3 | Gain | - |
| SNX17 | p.R302C | Missense | SNP | 0.491 | 2 | - | - |
| SNX19 | - | - | - | - | 1 | Loss | - |
| SNX21 | - | - | - | - | 3 | Gain | - |
| SNX31 | - | - | - | - | 3 | Gain | - |
| SOAT1 | p.R350W | Missense | SNP | 0.470 | 2 | - | - |
| SOCS7 | p.P334S | Missense | SNP | 0.383 | 2 | - | - |
| SOD3 | p.A95T | Missense | SNP | 0.521 | 2 | - | - |
| SOGA1 | - | - | - | - | 3 | Gain | - |
| SOGA3 | p.V946Cfs*28 | Frame_Shift_Ins | INS | 0.357 | 2 | - | - |
| SOHLH2 | - | - | - | - | 3 | Gain | - |
| SORBS3 | - | - | - | - | 1 | Loss | - |
| SORCS1 | p.P315Q p.A113V | Missense Missense | SNP SNP | 0.566 0.387 | 2 | - | - |
| SORCS2 | p.F241Y | Missense | SNP | 0.474 | 2 | - | - |
| SORCS3 | p.G943R | Missense | SNP | 0.455 | 2 | - | - |
| SORL1 | p.V2209I | Missense | SNP | 1.000 | 1 | Loss | - |
| SOWAHA | p.P148Rfs*23 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
| SOWAHB | p.E114Sfs*133 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| SOX1 | - | - | - | - | 3 | Gain | - |
| SOX11 | p.E36K | Missense | SNP | 0.427 | 2 | - | - |
| SOX17 | - | - | - | - | 3 | Gain | - |
| SOX18 | - | - | - | - | 1 | Loss | - |
| SOX21 | - | - | - | - | 3 | Gain | - |
| SOX4 | p.S394T | Missense | SNP | 0.506 | 2 | - | - |
| SOX6 | p.G777K | Missense | MNP | 0.352 | 2 | - | - |
| SOX7 | - | - | - | - | 1 | Loss | - |
| SP140 | p.P292L | Missense | SNP | 0.479 | 2 | - | - |
| SPA17 | - | - | - | - | 1 | Loss | - |
| SPAAR | - | - | - | - | 1 | Loss | - |
| SPACA7 | - | - | - | - | 3 | Gain | - |
| SPAG1 | - | - | - | - | 3 | Gain | - |
| SPAG11A | - | - | - | - | 1 | Loss | - |
| SPAG11B | p.F94S | Missense | SNP | 0.509 | 1 | Loss | - |
| SPAG16 | p.X93_splice p.G311D | Splice_Site Missense | SNP SNP | 0.481 0.508 | 2 | - | - |
| SPAG4 | - | - | - | - | 3 | Gain | - |
| SPAG6 | - | - | - | - | 1 | Loss | - |
| SPAG8 | - | - | - | - | 1 | Loss | - |
| SPART | - | - | - | - | 3 | Gain | - |
| SPATA12 | - | - | - | - | 1 | Loss | - |
| SPATA13 | - | - | - | - | 3 | Gain | - |
| SPATA18 | p.E146K | Missense | SNP | 0.690 | 2 | - | - |
| SPATA19 | - | - | - | - | 1 | Loss | - |
| SPATA2 | - | - | - | - | 3 | Gain | - |
| SPATA25 | - | - | - | - | 3 | Gain | - |
| SPATA31A1 | - | - | - | - | 1 | Loss | - |
| SPATA31A3 | - | - | - | - | 1 | Loss | - |
| SPATA31A7 | - | - | - | - | 1 | Loss | - |
| SPATA31D1 | p.M1249I | Missense | SNP | 0.530 | 2 | - | - |
| SPATA31E1 | p.P1043L p.G1280S | Missense Missense | SNP SNP | 0.445 0.456 | 2 | - | - |
| SPATA6L | - | - | - | - | 1 | Loss | - |
| SPATC1 | - | - | - | - | 3 | Gain | - |
| SPCS1 | - | - | - | - | 1 | Loss | - |
| SPDEF | p.E188K | Missense | SNP | 0.604 | 2 | - | - |
| SPDYC | p.G193W | Missense | SNP | 0.413 | 2 | - | - |
| SPDYE2B | - | - | - | - | 1 | Loss | - |
| SPEF2 | p.S988L | Missense | SNP | 0.722 | 4 | Gain | - |
| SPEG | p.G2057C | Missense | SNP | 0.182 | 2 | - | - |
| SPERT | - | - | - | - | 3 | Gain | - |
| SPIDR | - | - | - | - | 3 | Gain | - |
| SPINK4 | - | - | - | - | 1 | Loss | - |
| SPINK8 | - | - | - | - | 1 | Loss | - |
| SPINT3 | - | - | - | - | 3 | Gain | - |
| SPINT4 | - | - | - | - | 3 | Gain | - |
| SPO11 | - | - | - | - | 3 | Gain | - |
| SPOCD1 | p.R71W | Missense | SNP | 0.579 | 2 | - | - |
| SPRY2 | - | - | - | - | 3 | Gain | - |
| SPRYD7 | - | - | - | - | 3 | Gain | - |
| SPSB3 | p.H89N | Missense | SNP | 0.720 | 2 | - | - |
| SPTA1 | p.E1707K p.G1243E | Missense Missense | SNP SNP | 0.607 0.508 | 2 | - | - |
| SPTB | p.W63* | Nonsense | SNP | 0.473 | 2 | - | - |
| SPTBN2 | p.Q263* | Nonsense | SNP | 0.545 | 2 | - | - |
| SQLE | - | - | - | - | 3 | Gain | - |
| SRBD1 | p.H829Y | Missense | SNP | 0.540 | 2 | - | - |
| SRC | p.G29K p.P171S | Missense Missense | MNP SNP | 0.309 0.647 | 3 | Gain | - |
| SRCAP | p.R945* | Nonsense | SNP | 0.440 | 2 | - | - |
| SRCIN1 | p.A358D | Missense | SNP | 0.552 | 2 | - | - |
| SRD5A1 | - | - | - | - | 4 | Gain | - |
| SREBF2 | - | - | - | - | 3 | Gain | - |
| SRGAP3 | - | - | - | - | 1 | Loss | - |
| SRMS | - | - | - | - | 1 | Loss | - |
| SRP72 | p.V9Cfs*10 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
| SRPRA | - | - | - | - | 1 | Loss | - |
| SRRM1 | p.K37Rfs*4 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| SRSF6 | - | - | - | - | 3 | Gain | - |
| SS18L1 | - | - | - | - | 1 | Loss | - |
| SS18L2 | - | - | - | - | 1 | Loss | - |
| SSMEM1 | p.M101I | Missense | SNP | 0.552 | 2 | - | - |
| SSPO | p.H3147Y | Missense | SNP | 0.476 | 2 | - | - |
| SSUH2 | - | - | - | - | 1 | Loss | - |
| SSX1 | p.L104H | Missense | SNP | 1.000 | ND | ND | - |
| ST13 | - | - | - | - | 3 | Gain | - |
| ST14 | - | - | - | - | 1 | Loss | - |
| ST18 | p.T583S | Missense | SNP | 0.313 | 3 | Gain | - |
| ST3GAL1 | - | - | - | - | 3 | Gain | - |
| ST3GAL4 | - | - | - | - | 1 | Loss | - |
| STAB1 | - | - | - | - | 1 | Loss | - |
| STAC | - | - | - | - | 1 | Loss | - |
| STAC3 | p.E75_E76del | In_Frame_Del | DEL | 0.350 | 2 | - | - |
| STAMBPL1 | p.K405Rfs*21 | Frame_Shift_Del | DEL | 0.452 | 2 | - | - |
| STAR | - | - | - | - | 1 | Loss | - |
| STARD13 | - | - | - | - | 3 | Gain | - |
| STARD8 | p.P953Qfs*28 | Frame_Shift_Del | DEL | 0.143 | ND | ND | - |
| STATH | p.G31E | Missense | SNP | 0.528 | 2 | - | - |
| STAU1 | - | - | - | - | 3 | Gain | - |
| STAU2 | - | - | - | - | 3 | Gain | - |
| STC1 | - | - | - | - | 1 | Loss | - |
| STC2 | p.N152S | Missense | SNP | 0.518 | 2 | - | - |
| STEAP4 | p.G35R | Missense | SNP | 0.484 | 2 | - | - |
| STIL | p.P10S | Missense | SNP | 0.395 | 2 | - | - |
| STIMATE | - | - | - | - | 1 | Loss | - |
| STK10 | p.S387F | Missense | SNP | 0.434 | 2 | - | - |
| STK24 | - | - | - | - | 3 | Gain | - |
| STK3 | - | - | - | - | 3 | Gain | - |
| STK31 | p.P701L | Missense | SNP | 0.518 | 2 | - | - |
| STK32B | p.E226K | Missense | SNP | 0.428 | 2 | - | - |
| STK38L | p.W149* | Nonsense | SNP | 0.541 | 2 | - | - |
| STK4 | - | - | - | - | 3 | Gain | - |
| STMN2 | - | - | - | - | 3 | Gain | - |
| STMN3 | - | - | - | - | 1 | Loss | - |
| STMN4 | - | - | - | - | 1 | Loss | - |
| STOM | p.F83Lfs*14 | Frame_Shift_Del | DEL | 0.526 | 2 | - | - |
| STOML2 | - | - | - | - | 1 | Loss | - |
| STOML3 | - | - | - | - | 3 | Gain | - |
| STPG1 | p.T215Pfs*5 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
| STRC | p.L1297Sfs*29 | Frame_Shift_Del | DEL | 0.514 | 2 | - | - |
| STRIP2 | p.R696Q | Missense | SNP | 0.500 | 2 | - | - |
| STT3A | - | - | - | - | 1 | Loss | - |
| STT3B | - | - | - | - | 1 | Loss | - |
| STX16 | - | - | - | - | 3 | Gain | - |
| STX16-NPEPL1 | - | - | - | - | 3 | Gain | - |
| SUB1 | - | - | - | - | 4 | Gain | - |
| SUCLA2 | p.M61L | Missense | SNP | 0.306 | 3 | Gain | - |
| SUCLG2 | - | - | - | - | 1 | Loss | - |
| SUGT1 | - | - | - | - | 3 | Gain | - |
| SULF1 | - | - | - | - | 3 | Gain | - |
| SULF2 | p.E393K | Missense | SNP | 0.239 | 3 | Gain | - |
| SULT4A1 | p.S174F | Missense | SNP | 0.333 | 3 | Gain | - |
| SUMF1 | - | - | - | - | 3 | Gain | - |
| SUMF2 | p.X111_splice | Splice_Site | SNP | 0.433 | 2 | - | - |
| SUPT16H | p.Y567N | Missense | SNP | 0.481 | 2 | - | - |
| SUPT20H | - | - | - | - | 3 | Gain | - |
| SUSD5 | - | - | - | - | 1 | Loss | - |
| SVIL | - | - | - | - | 1 | Loss | - |
| SWAP70 | p.E457K | Missense | SNP | 0.437 | 2 | - | - |
| SYBU | - | - | - | - | 3 | Gain | - |
| SYCE1 | p.G314E | Missense | SNP | 0.500 | 2 | - | - |
| SYCE3 | - | - | - | - | 3 | Gain | - |
| SYCP2 | - | - | - | - | 1 | Loss | - |
| SYN1 | p.G160R | Missense | SNP | 0.976 | ND | ND | - |
| SYN2 | - | - | - | - | 1 | Loss | - |
| SYNC | p.E370K | Missense | SNP | 0.394 | 2 | - | - |
| SYNE1 | p.R3253I | Missense | SNP | 0.459 | 2 | - | - |
| SYNE2 | p.N1656Mfs*19 p.Q2620* p.Q2881* | Frame_Shift_Del Nonsense Nonsense | DEL SNP SNP | 0.365 0.467 0.476 | 2 | - | - |
| SYNJ2 | p.P1113Lfs*5 | Frame_Shift_Del | DEL | 0.569 | 2 | - | - |
| SYNPR | - | - | - | - | 1 | Loss | - |
| SYS1 | - | - | - | - | 3 | Gain | - |
| SYS1-DBNDD2 | - | - | - | - | 3 | Gain | - |
| SYT1 | p.F154S p.S309F | Missense Missense | SNP SNP | 0.583 0.449 | 2 | - | - |
| SYT17 | p.D385N | Missense | SNP | 0.527 | 2 | - | - |
| SYT4 | p.E403D | Missense | SNP | 0.490 | 2 | - | - |
| SZT2 | p.Q1379* p.W2051* | Nonsense Nonsense | SNP MNP | 0.434 0.468 | 2 | - | - |
| TAAR8 | p.T144I | Missense | SNP | 0.516 | 2 | - | - |
| TACC1 | - | - | - | - | 1 | Loss | - |
| TADA3 | - | - | - | - | 1 | Loss | - |
| TAF1L | - | - | - | - | 1 | Loss | - |
| TAF2 | - | - | - | - | 3 | Gain | - |
| TAF3 | p.R314H | Missense | SNP | 0.096 | 2 | - | - |
| TAF4 | - | - | - | - | 1 | Loss | - |
| TAF5 | p.D408Ifs*25 | Frame_Shift_Del | DEL | 0.356 | 2 | - | - |
| TAGLN | - | - | - | - | 1 | Loss | - |
| TAMM41 | - | - | - | - | 1 | Loss | - |
| TAOK1 | p.G909D | Missense | SNP | 0.485 | 2 | - | - |
| TAOK2 | p.R285W p.P1022S | Missense Missense | SNP SNP | 0.521 0.589 | 2 | - | - |
| TARS | - | - | - | - | 4 | Gain | - |
| TAS2R1 | - | - | - | - | 4 | Gain | - |
| TAS2R38 | p.S74I | Missense | SNP | 0.468 | 2 | - | - |
| TAT | p.P81S | Missense | SNP | 0.573 | 2 | - | - |
| TATDN1 | - | - | - | - | 3 | Gain | - |
| TATDN2 | p.S340F | Missense | SNP | 1.000 | 1 | Loss | - |
| TBATA | p.S210R | Missense | SNP | 0.476 | 2 | - | - |
| TBC1D14 | p.F543Lfs*9 | Frame_Shift_Del | DEL | 0.404 | 2 | - | - |
| TBC1D20 | p.R261H | Missense | SNP | 0.484 | 2 | - | - |
| TBC1D21 | p.D333N | Missense | SNP | 0.530 | 2 | - | - |
| TBC1D22A | - | - | - | - | 3 | Gain | - |
| TBC1D2B | p.E608K | Missense | SNP | 0.462 | 2 | - | - |
| TBC1D3 | - | - | - | - | 1 | Loss | - |
| TBC1D31 | - | - | - | - | 3 | Gain | - |
| TBC1D3C | - | - | - | - | 1 | Loss | - |
| TBC1D3D | - | - | - | - | 1 | Loss | - |
| TBC1D3E | - | - | - | - | 1 | Loss | - |
| TBC1D3K | - | - | - | - | 1 | Loss | - |
| TBC1D3L | - | - | - | - | 1 | Loss | - |
| TBC1D4 | p.R293W p.E61D | Missense Missense | SNP SNP | 0.276 0.671 | 3 | Gain | - |
| TBC1D5 | - | - | - | - | 1 | Loss | - |
| TBC1D7 | p.P289L | Missense | MNP | 0.407 | 2 | - | - |
| TBC1D9B | p.A959V | Missense | SNP | 0.464 | 2 | - | - |
| TBCD | p.G834E | Missense | SNP | 0.561 | 2 | - | - |
| TBCEL | - | - | - | - | 1 | Loss | - |
| TBCK | p.Y579H | Missense | SNP | 0.357 | 2 | - | - |
| TBL1XR1 | p.N126Mfs*16 | Frame_Shift_Del | DEL | 0.536 | 2 | - | - |
| TBP | p.P26S | Missense | SNP | 0.488 | 2 | - | - |
| TBRG1 | - | - | - | - | 1 | Loss | - |
| TBX21 | p.G465E | Missense | SNP | 0.432 | 2 | - | - |
| TBX3 | p.G529Afs*103 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| TBX4 | p.P371Lfs*8 | Frame_Shift_Del | DEL | 0.504 | 2 | - | - |
| TBX6 | p.P275S | Missense | SNP | 0.508 | 2 | - | - |
| TCAIM | - | - | - | - | 1 | Loss | - |
| TCEA1 | - | - | - | - | 3 | Gain | - |
| TCEA2 | - | - | - | - | 1 | Loss | - |
| TCERG1L | p.L256F | Missense | SNP | 0.439 | 2 | - | - |
| TCF20 | - | - | - | - | 3 | Gain | - |
| TCF24 | - | - | - | - | 3 | Gain | - |
| TCF7L1 | p.P563L | Missense | SNP | 0.500 | 2 | - | - |
| TCF7L2 | p.E29del | In_Frame_Del | DEL | 0.396 | 2 | - | - |
| TCFL5 | - | - | - | - | 1 | Loss | - |
| TCIM | - | - | - | - | 1 | Loss | - |
| TCTA | - | - | - | - | 1 | Loss | - |
| TDGF1 | - | - | - | - | 1 | Loss | - |
| TDRD3 | - | - | - | - | 3 | Gain | - |
| TDRP | - | - | - | - | 1 | Loss | - |
| TECPR2 | p.P1329L | Missense | SNP | 0.495 | 2 | - | - |
| TECTA | - | - | - | - | 1 | Loss | - |
| TEF | - | - | - | - | 3 | Gain | - |
| TEK | - | - | - | - | 1 | Loss | - |
| TENT4A | - | - | - | - | 4 | Gain | - |
| TEP1 | p.Y821N p.P693S | Missense Missense | SNP SNP | 0.530 0.591 | 2 | - | - |
| TERF1 | - | - | - | - | 3 | Gain | - |
| TERT | - | - | - | - | 4 | Gain | - |
| TESK1 | p.R384Q | Missense | SNP | 1.000 | 1 | Loss | - |
| TET1 | p.Q1323H p.K1769E | Missense Missense | SNP SNP | 0.392 0.454 | 2 | - | - |
| TEX11 | p.W764R | Missense | SNP | 1.000 | ND | ND | - |
| TEX12 | - | - | - | - | 1 | Loss | - |
| TEX15 | p.D1344N | Missense | SNP | 1.000 | 1 | Loss | - |
| TEX26 | - | - | - | - | 3 | Gain | - |
| TEX264 | - | - | - | - | 1 | Loss | - |
| TEX29 | - | - | - | - | 3 | Gain | - |
| TEX30 | - | - | - | - | 3 | Gain | - |
| TFAP2C | - | - | - | - | 3 | Gain | - |
| TFAP2D | p.H75Y p.P313S | Missense Missense | SNP SNP | 0.505 0.477 | 2 | - | - |
| TFDP1 | - | - | - | - | 3 | Gain | - |
| TG | p.Q182* p.M673I | Nonsense Missense | SNP SNP | 0.300 0.375 | 3 | Gain | - |
| TGDS | - | - | - | - | 3 | Gain | - |
| TGFBR2 | - | - | - | - | 1 | Loss | - |
| TGIF2 | - | - | - | - | 3 | Gain | - |
| TGIF2-RAB5IF | - | - | - | - | 3 | Gain | - |
| TGIF2LX | p.H131Y | Missense | SNP | 1.000 | ND | ND | - |
| TGM2 | - | - | - | - | 3 | Gain | - |
| TGM4 | - | - | - | - | 1 | Loss | - |
| TGS1 | - | - | - | - | 3 | Gain | - |
| THAP1 | - | - | - | - | 1 | Loss | - |
| THAP5 | p.Q186R | Missense | SNP | 0.547 | 2 | - | - |
| THAP9 | p.F341Lfs*2 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
| THBS4 | p.N610S | Missense | SNP | 0.510 | 2 | - | - |
| THEM6 | - | - | - | - | 3 | Gain | - |
| THNSL1 | - | - | - | - | 1 | Loss | - |
| THOC7 | - | - | - | - | 1 | Loss | - |
| THRAP3 | p.S234A p.P905S | Missense Missense | SNP SNP | 0.481 0.441 | 2 | - | - |
| THRAP3P1 | . | Splice_Site | SNP | 0.955 | ND | ND | - |
| THRB | - | - | - | - | 1 | Loss | - |
| THRSP | p.Q50* | Nonsense | SNP | 0.540 | 2 | - | - |
| THSD1 | - | - | - | - | 3 | Gain | - |
| THUMPD3 | - | - | - | - | 1 | Loss | - |
| THY1 | - | - | - | - | 1 | Loss | - |
| THYN1 | - | - | - | - | 1 | Loss | - |
| TIA1 | p.P187L | Missense | SNP | 0.404 | 2 | - | - |
| TIGD3 | p.Q115* | Nonsense | SNP | 0.508 | 2 | - | - |
| TIGD5 | - | - | - | - | 3 | Gain | - |
| TIGD7 | p.R499K | Missense | SNP | 0.480 | 2 | - | - |
| TIMM8B | - | - | - | - | 1 | Loss | - |
| TIMP4 | - | - | - | - | 1 | Loss | - |
| TIRAP | - | - | - | - | 1 | Loss | - |
| TK2 | p.S21I | Missense | SNP | 0.432 | 2 | - | - |
| TKFC | p.A187T | Missense | SNP | 0.551 | 2 | - | - |
| TKT | - | - | - | - | 1 | Loss | - |
| TKTL1 | p.I264Hfs*2 | Frame_Shift_Ins | INS | 0.479 | ND | ND | - |
| TLDC2 | - | - | - | - | 3 | Gain | - |
| TLL1 | p.R867_V869del | In_Frame_Del | DEL | 0.362 | 2 | - | - |
| TLN1 | - | - | - | - | 1 | Loss | - |
| TLR4 | p.E225K | Missense | SNP | 1.000 | 2 | - | - |
| TLR9 | - | - | - | - | 1 | Loss | - |
| TM2D2 | - | - | - | - | 1 | Loss | - |
| TM9SF2 | - | - | - | - | 3 | Gain | - |
| TMA16 | p.V16Sfs*25 | Frame_Shift_Del | DEL | 0.564 | 2 | - | - |
| TMA7 | - | - | - | - | 1 | Loss | - |
| TMC4 | p.E133K | Missense | SNP | 0.409 | 2 | - | - |
| TMCO3 | - | - | - | - | 3 | Gain | - |
| TMEM110-MUSTN1 | - | - | - | - | 1 | Loss | - |
| TMEM115 | - | - | - | - | 1 | Loss | - |
| TMEM132E | p.I378S | Missense | SNP | 0.510 | 2 | - | - |
| TMEM136 | - | - | - | - | 1 | Loss | - |
| TMEM139 | p.Y209Mfs*10 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| TMEM143 | p.G261S | Missense | SNP | 0.391 | 2 | - | - |
| TMEM158 | - | - | - | - | 1 | Loss | - |
| TMEM168 | p.S130F | Missense | SNP | 0.482 | 2 | - | - |
| TMEM189 | - | - | - | - | 3 | Gain | - |
| TMEM189-UBE2V1 | - | - | - | - | 3 | Gain | - |
| TMEM215 | - | - | - | - | 1 | Loss | - |
| TMEM218 | - | - | - | - | 1 | Loss | - |
| TMEM225 | - | - | - | - | 1 | Loss | - |
| TMEM249 | - | - | - | - | 3 | Gain | - |
| TMEM25 | - | - | - | - | 1 | Loss | - |
| TMEM255B | - | - | - | - | 3 | Gain | - |
| TMEM259 | p.T199M | Missense | SNP | 1.000 | 2 | - | - |
| TMEM267 | - | - | - | - | 4 | Gain | - |
| TMEM272 | - | - | - | - | 3 | Gain | - |
| TMEM30A | p.Y122S | Missense | SNP | 0.515 | 2 | - | - |
| TMEM40 | - | - | - | - | 1 | Loss | - |
| TMEM42 | - | - | - | - | 1 | Loss | - |
| TMEM43 | - | - | - | - | 1 | Loss | - |
| TMEM45B | - | - | - | - | 1 | Loss | - |
| TMEM64 | - | - | - | - | 3 | Gain | - |
| TMEM65 | - | - | - | - | 3 | Gain | - |
| TMEM67 | - | - | - | - | 3 | Gain | - |
| TMEM68 | - | - | - | - | 3 | Gain | - |
| TMEM70 | - | - | - | - | 3 | Gain | - |
| TMEM71 | - | - | - | - | 3 | Gain | - |
| TMEM74 | - | - | - | - | 3 | Gain | - |
| TMEM89 | - | - | - | - | 1 | Loss | - |
| TMEM8B | - | - | - | - | 1 | Loss | - |
| TMEM9 | p.L59M | Missense | SNP | 0.451 | 2 | - | - |
| TMF1 | - | - | - | - | 1 | Loss | - |
| TMIE | - | - | - | - | 1 | Loss | - |
| TMPPE | - | - | - | - | 1 | Loss | - |
| TMPRSS13 | - | - | - | - | 1 | Loss | - |
| TMPRSS4 | - | - | - | - | 1 | Loss | - |
| TMPRSS5 | p.A430T | Missense | SNP | 1.000 | 1 | Loss | - |
| TMTC3 | p.H67L | Missense | SNP | 0.542 | 2 | - | - |
| TMTC4 | - | - | - | - | 3 | Gain | - |
| TMUB1 | p.S127F | Missense | SNP | 0.482 | 2 | - | - |
| TNC | p.R1309C | Missense | SNP | 1.000 | 2 | - | - |
| TNFAIP8L3 | p.G28R | Missense | SNP | 0.429 | 2 | - | - |
| TNFRSF10A | - | - | - | - | 1 | Loss | - |
| TNFRSF10B | - | - | - | - | 1 | Loss | - |
| TNFRSF10C | - | - | - | - | 1 | Loss | - |
| TNFRSF10D | - | - | - | - | 1 | Loss | - |
| TNFRSF11B | - | - | - | - | 3 | Gain | - |
| TNFRSF13C | - | - | - | - | 3 | Gain | - |
| TNFRSF19 | - | - | - | - | 3 | Gain | - |
| TNFRSF4 | p.S24R | Missense | SNP | 0.686 | 2 | - | - |
| TNFRSF6B | - | - | - | - | 1 | Loss | - |
| TNFSF11 | - | - | - | - | 3 | Gain | - |
| TNFSF13B | - | - | - | - | 3 | Gain | - |
| TNK2 | p.P711Afs*4 p.Q571Sfs*3 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.268 0.459 | 2 | - | - |
| TNKS | - | - | - | - | 1 | Loss | - |
| TNNC1 | - | - | - | - | 1 | Loss | - |
| TNNC2 | - | - | - | - | 3 | Gain | - |
| TNPO3 | p.Q271Rfs*4 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
| TNRC6B | p.H1671N | Missense | SNP | 0.473 | 2 | - | - |
| TNS3 | p.L693M | Missense | SNP | 0.511 | 2 | - | - |
| TNXB | p.G1057E p.G185R | Missense Missense | SNP SNP | 0.535 0.471 | 2 | - | - |
| TOB2 | - | - | - | - | 3 | Gain | - |
| TOMM34 | - | - | - | - | 3 | Gain | - |
| TOMM5 | - | - | - | - | 1 | Loss | - |
| TONSL | - | - | - | - | 3 | Gain | - |
| TOP1 | - | - | - | - | 3 | Gain | - |
| TOP1MT | - | - | - | - | 3 | Gain | - |
| TOP2B | - | - | - | - | 1 | Loss | - |
| TOPAZ1 | - | - | - | - | 1 | Loss | - |
| TOPORS | - | - | - | - | 1 | Loss | - |
| TOX | - | - | - | - | 3 | Gain | - |
| TOX2 | - | - | - | - | 3 | Gain | - |
| TP53 | p.Q317R p.P278A p.W91* | Missense Missense Nonsense | SNP SNP SNP | 0.467 0.442 0.484 | 2 | - | - |
| TP53AIP1 | - | - | - | - | 1 | Loss | - |
| TP53BP1 | p.E716Nfs*12 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| TP53BP2 | p.P92Lfs*6 | Frame_Shift_Del | DEL | 0.540 | 2 | - | - |
| TP53INP1 | - | - | - | - | 3 | Gain | - |
| TP53INP2 | - | - | - | - | 3 | Gain | - |
| TP53RK | - | - | - | - | 3 | Gain | - |
| TP53TG5 | - | - | - | - | 3 | Gain | - |
| TP73 | p.S492I | Missense | SNP | 0.329 | 2 | - | - |
| TPD52 | - | - | - | - | 3 | Gain | - |
| TPD52L2 | - | - | - | - | 1 | Loss | - |
| TPD52L3 | - | - | - | - | 1 | Loss | - |
| TPM2 | - | - | - | - | 1 | Loss | - |
| TPP2 | p.S566F | Missense | SNP | 0.607 | 3 | Gain | - |
| TPPP | - | - | - | - | 3 | Gain | - |
| TPT1 | - | - | - | - | 3 | Gain | - |
| TPTE | - | - | - | - | 1 | Loss | - |
| TRABD | - | - | - | - | 3 | Gain | - |
| TRAF1 | p.P79L | Missense | SNP | 1.000 | 2 | - | - |
| TRAF3IP2 | p.M52Nfs*41 | Frame_Shift_Ins | INS | 0.332 | 2 | - | - |
| TRAFD1 | p.D6Y p.Q253K | Missense Missense | SNP SNP | 0.384 0.545 | 2 | - | - |
| TRAIP | - | - | - | - | 1 | Loss | - |
| TRAK1 | - | - | - | - | 1 | Loss | - |
| TRAM1 | - | - | - | - | 3 | Gain | - |
| TRANK1 | - | - | - | - | 1 | Loss | - |
| TRAPPC4 | - | - | - | - | 1 | Loss | - |
| TRAPPC9 | - | - | - | - | 3 | Gain | - |
| TRAV2 | p.E101Gfs*? | Frame_Shift_Ins | INS | 0.326 | ND | ND | - |
| TRAV26-1 | p.D18N | Missense | SNP | 0.494 | ND | ND | - |
| TRBV5-5 | p.A106V | Missense | SNP | 0.431 | ND | ND | - |
| TREH | - | - | - | - | 1 | Loss | - |
| TREX1 | - | - | - | - | 1 | Loss | - |
| TRGV5 | p.W3R | Missense | SNP | 0.477 | ND | ND | - |
| TRHR | - | - | - | - | 3 | Gain | - |
| TRIB1 | - | - | - | - | 3 | Gain | - |
| TRIL | p.P674S | Missense | SNP | 0.459 | 2 | - | - |
| TRIM13 | - | - | - | - | 3 | Gain | - |
| TRIM29 | p.P391Hfs*19 | Frame_Shift_Del | DEL | 0.123 | 1 | Loss | - |
| TRIM35 | - | - | - | - | 1 | Loss | - |
| TRIM36 | p.G408E | Missense | SNP | 0.526 | 2 | - | - |
| TRIM39 | p.L290F | Missense | SNP | 0.515 | 2 | - | - |
| TRIM44 | p.A206Gfs*15 | Frame_Shift_Ins | INS | 0.337 | 2 | - | - |
| TRIM5 | p.P323S | Missense | SNP | 0.490 | 2 | - | - |
| TRIM55 | - | - | - | - | 3 | Gain | - |
| TRIM63 | p.R45L | Missense | SNP | 0.443 | 2 | - | - |
| TRIM71 | - | - | - | - | 1 | Loss | - |
| TRIML2 | p.V52M | Missense | SNP | 0.430 | 2 | - | - |
| TRIO | - | - | - | - | 4 | Gain | - |
| TRIOBP | p.D62A | Missense | SNP | 0.408 | 2 | - | - |
| TRIP12 | p.G1332S p.X424_splice | Missense Splice_Site | SNP SNP | 0.413 0.417 | 2 | - | - |
| TRIP13 | - | - | - | - | 4 | Gain | - |
| TRIQK | - | - | - | - | 3 | Gain | - |
| TRMT10B | - | - | - | - | 1 | Loss | - |
| TRMT10C | p.K139R | Missense | SNP | 0.390 | 2 | - | - |
| TRMT12 | - | - | - | - | 3 | Gain | - |
| TRMT2A | p.P146L | Missense | SNP | 0.410 | 2 | - | - |
| TRMT5 | p.H333Y | Missense | SNP | 0.537 | 2 | - | - |
| TRMT9B | - | - | - | - | 1 | Loss | - |
| TRMU | - | - | - | - | 3 | Gain | - |
| TRNT1 | - | - | - | - | 3 | Gain | - |
| TRO | p.G1128S | Missense | SNP | 1.000 | ND | ND | - |
| TRPA1 | - | - | - | - | 3 | Gain | - |
| TRPC4 | - | - | - | - | 3 | Gain | - |
| TRPC4AP | - | - | - | - | 3 | Gain | - |
| TRPM5 | p.G1093W | Missense | SNP | 0.392 | 2 | - | - |
| TRPS1 | p.A869Rfs*45 | Frame_Shift_Del | DEL | 0.235 | 3 | Gain | - |
| TRPV2 | p.M39I | Missense | SNP | 0.503 | 2 | - | - |
| TRPV4 | p.R249H | Missense | SNP | 0.509 | 2 | - | - |
| TRRAP | p.R1015W | Missense | SNP | 0.458 | 2 | - | - |
| TSC2 | p.A1429V | Missense | SNP | 0.491 | 2 | - | - |
| TSC22D1 | - | - | - | - | 3 | Gain | - |
| TSEN2 | - | - | - | - | 1 | Loss | - |
| TSHZ1 | p.D71G p.W892* | Missense Nonsense | SNP SNP | 0.556 0.534 | 2 | - | - |
| TSHZ2 | - | - | - | - | 3 | Gain | - |
| TSNARE1 | - | - | - | - | 3 | Gain | - |
| TSPO | - | - | - | - | 3 | Gain | - |
| TSPYL5 | - | - | - | - | 3 | Gain | - |
| TSTA3 | - | - | - | - | 3 | Gain | - |
| TTC12 | - | - | - | - | 1 | Loss | - |
| TTC21A | - | - | - | - | 1 | Loss | - |
| TTC23L | - | - | - | - | 4 | Gain | - |
| TTC33 | - | - | - | - | 4 | Gain | - |
| TTC36 | - | - | - | - | 1 | Loss | - |
| TTC37 | p.Q1468* | Nonsense | SNP | 0.449 | 2 | - | - |
| TTC38 | - | - | - | - | 3 | Gain | - |
| TTC39B | - | - | - | - | 1 | Loss | - |
| TTC7B | p.A833V | Missense | SNP | 0.453 | 2 | - | - |
| TTI1 | - | - | - | - | 3 | Gain | - |
| TTI2 | - | - | - | - | 1 | Loss | - |
| TTK | p.K857Nfs*36 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
| TTLL1 | - | - | - | - | 3 | Gain | - |
| TTLL12 | - | - | - | - | 3 | Gain | - |
| TTLL3 | - | - | - | - | 1 | Loss | - |
| TTLL4 | p.Q129P p.K688N | Missense Missense | SNP SNP | 0.468 0.458 | 2 | - | - |
| TTLL8 | - | - | - | - | 3 | Gain | - |
| TTN | p.F6763Lfs*7 p.Y31580N p.G28618K p.E14315A p.P11528L p.S5136L p.W3090* p.P68L | Frame_Shift_Del Missense Missense Missense Missense Missense Nonsense Missense | DEL SNP MNP SNP SNP SNP SNP SNP | 0.360 0.466 0.473 0.446 0.552 0.407 0.432 0.360 | 2 | - | - |
| TTPA | - | - | - | - | 3 | Gain | - |
| TTPAL | - | - | - | - | 3 | Gain | - |
| TUBB1 | - | - | - | - | 11 | Amp | - |
| TUBGCP3 | - | - | - | - | 3 | Gain | - |
| TUBGCP5 | p.M527* | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
| TUBGCP6 | - | - | - | - | 3 | Gain | - |
| TULP2 | p.E217K | Missense | SNP | 0.419 | 2 | - | - |
| TULP4 | p.R403Afs*24 p.S530F | Frame_Shift_Del Missense | DEL SNP | 0.403 0.545 | 2 | - | - |
| TUSC1 | - | - | - | - | 1 | Loss | - |
| TUSC2 | - | - | - | - | 1 | Loss | - |
| TUSC3 | - | - | - | - | 1 | Loss | - |
| TUT1 | p.F54Sfs*29 | Frame_Shift_Del | DEL | 0.538 | 2 | - | - |
| TWF2 | - | - | - | - | 1 | Loss | - |
| TWISTNB | p.K311Rfs*15 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
| TXK | p.R394K | Missense | SNP | 0.489 | 2 | - | - |
| TXLNB | p.G113E | Missense | SNP | 0.508 | 2 | - | - |
| TYMP | - | - | - | - | 3 | Gain | - |
| TYRP1 | - | - | - | - | 1 | Loss | - |
| U2AF1L5 | - | - | - | - | 1 | Loss | - |
| UBA1 | p.N1041K | Missense | SNP | 1.000 | ND | ND | - |
| UBA2 | p.L523P | Missense | SNP | 0.421 | 2 | - | - |
| UBA3 | - | - | - | - | 1 | Loss | - |
| UBA7 | - | - | - | - | 1 | Loss | - |
| UBAC2 | - | - | - | - | 3 | Gain | - |
| UBAP1 | - | - | - | - | 1 | Loss | - |
| UBAP2 | - | - | - | - | 1 | Loss | - |
| UBASH3B | - | - | - | - | 1 | Loss | - |
| UBE2C | - | - | - | - | 3 | Gain | - |
| UBE2E1 | - | - | - | - | 1 | Loss | - |
| UBE2E2 | - | - | - | - | 1 | Loss | - |
| UBE2Q2P6 | . | Splice_Site | SNP | 0.409 | ND | ND | - |
| UBE2QL1 | - | - | - | - | 4 | Gain | - |
| UBE2R2 | - | - | - | - | 1 | Loss | - |
| UBE2V1 | - | - | - | - | 3 | Gain | - |
| UBE2V2 | - | - | - | - | 3 | Gain | - |
| UBE2W | - | - | - | - | 3 | Gain | - |
| UBE2Z | p.K105E | Missense | SNP | 0.374 | 2 | - | - |
| UBE3B | p.D823N | Missense | SNP | 0.444 | 2 | - | - |
| UBE4A | - | - | - | - | 1 | Loss | - |
| UBL3 | - | - | - | - | 3 | Gain | - |
| UBP1 | - | - | - | - | 1 | Loss | - |
| UBR1 | p.C1541G | Missense | SNP | 0.529 | 2 | - | - |
| UBR3 | p.R1183* | Nonsense | SNP | 0.477 | 2 | - | - |
| UBR5 | - | - | - | - | 3 | Gain | - |
| UBXN2B | - | - | - | - | 3 | Gain | - |
| UBXN8 | - | - | - | - | 1 | Loss | - |
| UCHL3 | p.R141H | Missense | SNP | 0.639 | 3 | Gain | - |
| UCKL1 | - | - | - | - | 1 | Loss | - |
| UCN2 | - | - | - | - | 1 | Loss | - |
| UFM1 | - | - | - | - | 3 | Gain | - |
| UGGT1 | p.D1432G | Missense | SNP | 0.559 | 2 | - | - |
| UGGT2 | - | - | - | - | 3 | Gain | - |
| UGT1A6 | p.A470V | Missense | SNP | 0.481 | 2 | - | - |
| UGT2A1 | - | - | - | - | 1 | Loss | - |
| UGT2A2 | - | - | - | - | 1 | Loss | - |
| UGT2A3 | - | - | - | - | 1 | Loss | - |
| UGT2B10 | p.S191F | Missense | SNP | 0.462 | 1 | Loss | - |
| UGT2B11 | - | - | - | - | 1 | Loss | - |
| UGT2B15 | - | - | - | - | 1 | Loss | - |
| UGT2B17 | - | - | - | - | 1 | Loss | - |
| UGT2B28 | - | - | - | - | 1 | Loss | - |
| UGT2B4 | p.K524R | Missense | SNP | 0.541 | 1 | Loss | - |
| UGT2B7 | p.V28M | Missense | SNP | 0.533 | 1 | Loss | - |
| UGT3A1 | - | - | - | - | 4 | Gain | - |
| UGT3A2 | - | - | - | - | 4 | Gain | - |
| UHRF1 | p.D379N | Missense | SNP | 0.509 | 2 | - | - |
| UHRF2 | - | - | - | - | 1 | Loss | - |
| ULK4 | - | - | - | - | 1 | Loss | - |
| UNC13A | p.Q360H | Missense | SNP | 0.464 | 2 | - | - |
| UNC13B | - | - | - | - | 1 | Loss | - |
| UNC13C | p.D275N p.G420R | Missense Missense | SNP SNP | 0.490 0.468 | 2 | - | - |
| UNC5C | p.E121K | Missense | SNP | 0.438 | 2 | - | - |
| UNC5CL | p.R38K | Missense | SNP | 0.580 | 2 | - | - |
| UNC5D | p.P511S p.P843L | Missense Missense | SNP SNP | 1.000 0.990 | 1 | Loss | - |
| UNK | p.I621V | Missense | SNP | 0.511 | 2 | - | - |
| UPB1 | p.N197Tfs*34 | Frame_Shift_Del | DEL | 0.543 | 2 | - | - |
| UPF1 | p.L219F | Missense | SNP | 0.457 | 2 | - | - |
| UPF3A | - | - | - | - | 3 | Gain | - |
| UPK2 | - | - | - | - | 1 | Loss | - |
| UPK3A | - | - | - | - | 3 | Gain | - |
| UPK3BL1 | - | - | - | - | 1 | Loss | - |
| UQCC1 | - | - | - | - | 3 | Gain | - |
| UQCRB | - | - | - | - | 3 | Gain | - |
| UQCRC1 | - | - | - | - | 1 | Loss | - |
| URAD | - | - | - | - | 3 | Gain | - |
| USH2A | p.L4479F | Missense | SNP | 0.480 | 2 | - | - |
| USP12 | - | - | - | - | 3 | Gain | - |
| USP19 | - | - | - | - | 1 | Loss | - |
| USP2 | - | - | - | - | 1 | Loss | - |
| USP28 | - | - | - | - | 1 | Loss | - |
| USP29 | p.N171D | Missense | SNP | 0.454 | 2 | - | - |
| USP36 | p.P710S | Missense | SNP | 0.457 | 2 | - | - |
| USP39 | p.T432I | Missense | SNP | 0.460 | 2 | - | - |
| USP4 | - | - | - | - | 1 | Loss | - |
| USP6 | p.P776H | Missense | SNP | 0.496 | 2 | - | - |
| USP6NL | p.R704P | Missense | SNP | 0.096 | 2 | - | - |
| USPL1 | - | - | - | - | 3 | Gain | - |
| UTP14C | - | - | - | - | 3 | Gain | - |
| UTP23 | - | - | - | - | 3 | Gain | - |
| UTRN | p.A1050T p.G2511R | Missense Missense | SNP SNP | 0.446 0.408 | 2 | - | - |
| UVRAG | p.S237Vfs*6 | Frame_Shift_Del | DEL | 0.293 | 2 | - | - |
| VAPB | - | - | - | - | 3 | Gain | - |
| VARS2 | p.A187T p.R638H | Missense Missense | SNP SNP | 0.505 0.464 | 2 | - | - |
| VCAN | p.D3375G | Missense | SNP | 0.467 | 2 | - | - |
| VCP | - | - | - | - | 1 | Loss | - |
| VCPIP1 | - | - | - | - | 3 | Gain | - |
| VDAC3 | - | - | - | - | 1 | Loss | - |
| VEGFB | p.T166A | Missense | SNP | 0.400 | 2 | - | - |
| VEZT | p.K199Nfs*20 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
| VGLL1 | p.P107H | Missense | SNP | 1.000 | ND | ND | - |
| VGLL4 | - | - | - | - | 1 | Loss | - |
| VHL | - | - | - | - | 1 | Loss | - |
| VILL | - | - | - | - | 1 | Loss | - |
| VIP | p.R138K | Missense | SNP | 0.510 | 2 | - | - |
| VIPR1 | - | - | - | - | 1 | Loss | - |
| VIRMA | - | - | - | - | 3 | Gain | - |
| VLDLR | - | - | - | - | 1 | Loss | - |
| VN1R2 | p.S106L | Missense | SNP | 0.517 | 2 | - | - |
| VPS11 | p.P136S | Missense | SNP | 1.000 | 1 | Loss | - |
| VPS13B | - | - | - | - | 3 | Gain | - |
| VPS26B | - | - | - | - | 1 | Loss | - |
| VPS28 | - | - | - | - | 3 | Gain | - |
| VPS36 | - | - | - | - | 3 | Gain | - |
| VPS37A | - | - | - | - | 1 | Loss | - |
| VSIG10 | p.P339Lfs*7 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
| VSIG10L2 | - | - | - | - | 1 | Loss | - |
| VSIG2 | - | - | - | - | 1 | Loss | - |
| VSIG8 | p.G304S | Missense | SNP | 0.650 | 2 | - | - |
| VSTM2L | - | - | - | - | 3 | Gain | - |
| VWA5A | - | - | - | - | 1 | Loss | - |
| VWA5B1 | p.A249D | Missense | SNP | 0.542 | 2 | - | - |
| VWA8 | - | - | - | - | 3 | Gain | - |
| VXN | - | - | - | - | 3 | Gain | - |
| WAC | - | - | - | - | 1 | Loss | - |
| WARS | p.Q255* | Nonsense | SNP | 0.498 | 2 | - | - |
| WASF3 | p.P353S | Missense | SNP | 0.707 | 3 | Gain | - |
| WASHC5 | - | - | - | - | 3 | Gain | - |
| WBP2NL | - | - | - | - | 3 | Gain | - |
| WBP4 | - | - | - | - | 3 | Gain | - |
| WBSCR17 | p.R66Afs*24 p.P258S | Frame_Shift_Ins Missense | INS SNP | 0.303 0.473 | ND | ND | - |
| WDFY2 | - | - | - | - | 3 | Gain | - |
| WDR20 | p.A267V | Missense | SNP | 0.502 | 2 | - | - |
| WDR48 | - | - | - | - | 1 | Loss | - |
| WDR49 | p.G223R | Missense | SNP | 0.535 | 2 | - | - |
| WDR6 | - | - | - | - | 1 | Loss | - |
| WDR60 | p.R607H | Missense | SNP | 0.537 | 2 | - | - |
| WDR70 | p.S84F | Missense | SNP | 0.759 | 4 | Gain | - |
| WDR78 | p.P662S | Missense | SNP | 0.478 | 2 | - | - |
| WDR82 | - | - | - | - | 1 | Loss | - |
| WDR87 | p.V1240A | Missense | SNP | 0.465 | 2 | - | - |
| WDR97 | - | - | - | - | 3 | Gain | - |
| WDYHV1 | - | - | - | - | 3 | Gain | - |
| WFDC10A | - | - | - | - | 3 | Gain | - |
| WFDC10B | - | - | - | - | 3 | Gain | - |
| WFDC11 | - | - | - | - | 3 | Gain | - |
| WFDC12 | - | - | - | - | 3 | Gain | - |
| WFDC13 | - | - | - | - | 3 | Gain | - |
| WFDC2 | - | - | - | - | 3 | Gain | - |
| WFDC3 | p.D185Y | Missense | SNP | 0.652 | 3 | Gain | - |
| WFDC5 | - | - | - | - | 3 | Gain | - |
| WFDC6 | - | - | - | - | 3 | Gain | - |
| WFDC8 | - | - | - | - | 3 | Gain | - |
| WFDC9 | - | - | - | - | 3 | Gain | - |
| WIPF2 | p.H403Y | Missense | SNP | 0.529 | 2 | - | - |
| WISP1 | - | - | - | - | 3 | Gain | - |
| WISP2 | - | - | - | - | 3 | Gain | - |
| WNK1 | p.S2590N | Missense | SNP | 0.526 | 2 | - | - |
| WNK2 | p.D1638Tfs*35 p.G1103E | Frame_Shift_Del Missense | DEL SNP | 0.529 0.423 | 2 | - | - |
| WNT3 | p.P281L | Missense | SNP | 0.466 | 2 | - | - |
| WNT5A | - | - | - | - | 1 | Loss | - |
| WNT7A | - | - | - | - | 1 | Loss | - |
| WNT7B | - | - | - | - | 3 | Gain | - |
| WRB | p.P127S | Missense | SNP | 1.000 | 2 | - | - |
| WRN | - | - | - | - | 1 | Loss | - |
| WWC3 | p.T947Pfs*37 | Frame_Shift_Del | DEL | 0.977 | ND | ND | - |
| WWP1 | - | - | - | - | 3 | Gain | - |
| XAB2 | p.Y186C | Missense | SNP | 0.514 | 2 | - | - |
| XCR1 | p.I256M | Missense | SNP | 1.000 | 1 | Loss | - |
| XDH | p.G589N | Missense | MNP | 0.475 | 2 | - | - |
| XIRP1 | - | - | - | - | 1 | Loss | - |
| XIRP2 | p.Q342* p.I2150N p.P2421L | Nonsense Missense Missense | SNP SNP SNP | 0.561 0.498 0.503 | 2 | - | - |
| XKR4 | - | - | - | - | 3 | Gain | - |
| XKR5 | - | - | - | - | 1 | Loss | - |
| XKR6 | - | - | - | - | 1 | Loss | - |
| XKR9 | - | - | - | - | 3 | Gain | - |
| XPC | - | - | - | - | 1 | Loss | - |
| XPNPEP3 | - | - | - | - | 3 | Gain | - |
| XPO4 | p.F68Y | Missense | SNP | 0.254 | 2 | - | - |
| XPO5 | p.K704T | Missense | SNP | 0.748 | 2 | - | - |
| XPO7 | - | - | - | - | 1 | Loss | - |
| XRCC6 | - | - | - | - | 3 | Gain | - |
| XRRA1 | p.S558F | Missense | SNP | 0.481 | 2 | - | - |
| XXYLT1 | p.E283Rfs*10 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
| XYLB | - | - | - | - | 1 | Loss | - |
| XYLT2 | p.G529Afs*78 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
| YEATS2 | p.L863* p.P778S | Frame_Shift_Del Missense | DEL SNP | 0.467 0.467 | 2 | - | - |
| YME1L1 | - | - | - | - | 1 | Loss | - |
| YTHDF1 | - | - | - | - | 1 | Loss | - |
| YTHDF3 | - | - | - | - | 3 | Gain | - |
| YWHAB | - | - | - | - | 3 | Gain | - |
| YWHAZ | - | - | - | - | 3 | Gain | - |
| Z84492.1 | - | - | - | - | 1 | Loss | - |
| Z98752.3 | - | - | - | - | 3 | Gain | - |
| ZAR1L | p.W34* | Nonsense | MNP | 0.341 | 3 | Gain | - |
| ZBED4 | - | - | - | - | 3 | Gain | - |
| ZBP1 | - | - | - | - | 3 | Gain | - |
| ZBTB10 | - | - | - | - | 3 | Gain | - |
| ZBTB16 | - | - | - | - | 1 | Loss | - |
| ZBTB18 | p.T296I | Missense | SNP | 0.480 | 2 | - | - |
| ZBTB22 | p.G350Efs*9 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
| ZBTB4 | p.V300M | Missense | SNP | 0.480 | 2 | - | - |
| ZBTB40 | p.E1126K | Missense | SNP | 0.455 | 2 | - | - |
| ZBTB44 | - | - | - | - | 1 | Loss | - |
| ZBTB46 | - | - | - | - | 1 | Loss | - |
| ZBTB47 | - | - | - | - | 1 | Loss | - |
| ZBTB5 | - | - | - | - | 1 | Loss | - |
| ZC2HC1A | - | - | - | - | 3 | Gain | - |
| ZC3H12B | p.P192S | Missense | SNP | 1.000 | ND | ND | - |
| ZC3H12C | - | - | - | - | 1 | Loss | - |
| ZC3H13 | - | - | - | - | 3 | Gain | - |
| ZC3H18 | p.R704Qfs*14 p.H126Y | Frame_Shift_Ins Missense | INS SNP | 0.290 0.387 | 2 | - | - |
| ZC3H3 | - | - | - | - | 3 | Gain | - |
| ZC3H7B | - | - | - | - | 3 | Gain | - |
| ZCCHC24 | p.R194Afs*? | Frame_Shift_Del | DEL | 0.556 | 2 | - | - |
| ZCCHC5 | p.E175K | Missense | SNP | 1.000 | ND | ND | - |
| ZCCHC7 | - | - | - | - | 1 | Loss | - |
| ZCWPW2 | - | - | - | - | 1 | Loss | - |
| ZDBF2 | p.K1728Nfs*5 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
| ZDHHC11B | - | - | - | - | 3 | Gain | - |
| ZDHHC2 | - | - | - | - | 1 | Loss | - |
| ZDHHC20 | - | - | - | - | 3 | Gain | - |
| ZDHHC21 | - | - | - | - | 1 | Loss | - |
| ZDHHC3 | - | - | - | - | 1 | Loss | - |
| ZEB1 | - | - | - | - | 1 | Loss | - |
| ZFAND1 | p.L223S | Missense | SNP | 0.350 | 3 | Gain | - |
| ZFAND2B | p.G138R | Missense | SNP | 0.500 | 2 | - | - |
| ZFAT | - | - | - | - | 3 | Gain | - |
| ZFHX4 | - | - | - | - | 3 | Gain | - |
| ZFP41 | - | - | - | - | 3 | Gain | - |
| ZFP64 | - | - | - | - | 3 | Gain | - |
| ZFP82 | p.E398K | Missense | SNP | 0.491 | 2 | - | - |
| ZFPM2 | - | - | - | - | 3 | Gain | - |
| ZFR | - | - | - | - | 4 | Gain | - |
| ZFR2 | p.A888V | Missense | SNP | 0.388 | 2 | - | - |
| ZFYVE16 | p.K148Nfs*14 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
| ZGPAT | - | - | - | - | 1 | Loss | - |
| ZHX1 | p.K870E | Missense | SNP | 0.394 | 3 | Gain | - |
| ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
| ZHX2 | p.V433M | Missense | SNP | 0.615 | 3 | Gain | - |
| ZHX3 | p.P935L | Missense | SNP | 0.631 | 3 | Gain | - |
| ZIC2 | - | - | - | - | 3 | Gain | - |
| ZIC5 | - | - | - | - | 3 | Gain | - |
| ZKSCAN5 | p.H661N | Missense | SNP | 0.508 | 2 | - | - |
| ZKSCAN7 | - | - | - | - | 1 | Loss | - |
| ZMAT4 | - | - | - | - | 1 | Loss | - |
| ZMYND10 | - | - | - | - | 1 | Loss | - |
| ZMYND8 | p.D1094N | Missense | SNP | 0.532 | 3 | Gain | - |
| ZNF106 | p.S1583F p.H499Y | Missense Missense | SNP SNP | 0.478 0.474 | 2 | - | - |
| ZNF112 | p.Y749H | Missense | SNP | 0.497 | 2 | - | - |
| ZNF114 | p.D166N | Missense | SNP | 0.444 | 2 | - | - |
| ZNF131 | - | - | - | - | 4 | Gain | - |
| ZNF16 | - | - | - | - | 3 | Gain | - |
| ZNF180 | p.I66L | Missense | SNP | 0.421 | 2 | - | - |
| ZNF197 | - | - | - | - | 1 | Loss | - |
| ZNF20 | p.R271C | Missense | SNP | 0.437 | 2 | - | - |
| ZNF202 | - | - | - | - | 1 | Loss | - |
| ZNF217 | - | - | - | - | 3 | Gain | - |
| ZNF219 | p.P567L | Missense | SNP | 0.448 | 2 | - | - |
| ZNF224 | p.N261D | Missense | SNP | 0.473 | 2 | - | - |
| ZNF233 | p.R19M | Missense | SNP | 0.518 | 2 | - | - |
| ZNF248 | - | - | - | - | 1 | Loss | - |
| ZNF25 | - | - | - | - | 1 | Loss | - |
| ZNF250 | - | - | - | - | 3 | Gain | - |
| ZNF251 | - | - | - | - | 3 | Gain | - |
| ZNF253 | p.F209V | Missense | SNP | 0.567 | 2 | - | - |
| ZNF256 | p.S555F | Missense | SNP | 0.545 | 2 | - | - |
| ZNF260 | p.H270Y | Missense | SNP | 0.557 | 2 | - | - |
| ZNF263 | p.R454H | Missense | SNP | 0.507 | 2 | - | - |
| ZNF273 | p.L473F | Missense | SNP | 0.392 | 2 | - | - |
| ZNF274 | p.P283S | Missense | SNP | 0.405 | 2 | - | - |
| ZNF317 | p.S515P | Missense | SNP | 0.424 | 2 | - | - |
| ZNF334 | - | - | - | - | 3 | Gain | - |
| ZNF335 | - | - | - | - | 3 | Gain | - |
| ZNF33A | - | - | - | - | 1 | Loss | - |
| ZNF33B | p.K775N | Missense | SNP | 0.467 | 2 | - | - |
| ZNF34 | - | - | - | - | 3 | Gain | - |
| ZNF341 | p.P160Hfs*7 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
| ZNF345 | p.S440G | Missense | SNP | 0.509 | 2 | - | - |
| ZNF35 | - | - | - | - | 1 | Loss | - |
| ZNF37A | - | - | - | - | 1 | Loss | - |
| ZNF384 | p.R395W | Missense | SNP | 0.495 | 2 | - | - |
| ZNF385D | - | - | - | - | 1 | Loss | - |
| ZNF395 | - | - | - | - | 1 | Loss | - |
| ZNF438 | - | - | - | - | 1 | Loss | - |
| ZNF445 | - | - | - | - | 1 | Loss | - |
| ZNF454 | p.E154G | Missense | SNP | 0.338 | 2 | - | - |
| ZNF469 | p.R3417Gfs*56 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
| ZNF488 | p.E315K | Missense | SNP | 0.515 | 2 | - | - |
| ZNF490 | p.K99Nfs*18 | Frame_Shift_Del | DEL | 0.541 | 2 | - | - |
| ZNF501 | - | - | - | - | 1 | Loss | - |
| ZNF502 | - | - | - | - | 1 | Loss | - |
| ZNF512B | - | - | - | - | 1 | Loss | - |
| ZNF513 | p.R377Q | Missense | SNP | 0.545 | 2 | - | - |
| ZNF517 | p.P488L | Missense | SNP | 0.571 | 3 | Gain | - |
| ZNF518A | p.N617K | Missense | SNP | 0.518 | 2 | - | - |
| ZNF528 | p.F530L | Missense | SNP | 0.429 | 2 | - | - |
| ZNF546 | p.R707* | Nonsense | SNP | 0.420 | 2 | - | - |
| ZNF549 | p.P84H | Missense | SNP | 0.500 | 2 | - | - |
| ZNF559 | p.H243Y | Missense | SNP | 0.544 | 2 | - | - |
| ZNF572 | - | - | - | - | 3 | Gain | - |
| ZNF573 | p.E86K | Missense | SNP | 0.490 | 2 | - | - |
| ZNF574 | p.R841C | Missense | SNP | 0.423 | 2 | - | - |
| ZNF582 | p.P493L | Missense | SNP | 0.408 | 2 | - | - |
| ZNF585B | p.A3V | Missense | SNP | 0.404 | 2 | - | - |
| ZNF587B | p.P269S | Missense | SNP | 0.573 | 2 | - | - |
| ZNF589 | - | - | - | - | 1 | Loss | - |
| ZNF596 | - | - | - | - | 1 | Loss | - |
| ZNF598 | p.P695L | Missense | SNP | 0.449 | 2 | - | - |
| ZNF608 | p.G639E | Missense | SNP | 0.446 | 2 | - | - |
| ZNF610 | p.G22E | Missense | SNP | 0.556 | 2 | - | - |
| ZNF611 | p.V464A | Missense | SNP | 0.476 | 2 | - | - |
| ZNF619 | - | - | - | - | 1 | Loss | - |
| ZNF620 | - | - | - | - | 1 | Loss | - |
| ZNF621 | - | - | - | - | 1 | Loss | - |
| ZNF622 | - | - | - | - | 4 | Gain | - |
| ZNF623 | - | - | - | - | 3 | Gain | - |
| ZNF629 | p.E203* | Nonsense | SNP | 0.462 | 2 | - | - |
| ZNF658 | - | - | - | - | 1 | Loss | - |
| ZNF660 | - | - | - | - | 1 | Loss | - |
| ZNF662 | - | - | - | - | 1 | Loss | - |
| ZNF665 | p.H136Y | Missense | SNP | 0.468 | 2 | - | - |
| ZNF667 | p.L542F p.R121Q | Missense Missense | SNP SNP | 0.564 0.456 | 2 | - | - |
| ZNF671 | p.H473Y | Missense | SNP | 0.484 | 2 | - | - |
| ZNF683 | p.I382T | Missense | SNP | 0.485 | 2 | - | - |
| ZNF695 | p.N155S | Missense | SNP | 0.476 | 2 | - | - |
| ZNF696 | - | - | - | - | 3 | Gain | - |
| ZNF697 | p.R337C | Missense | SNP | 0.514 | 2 | - | - |
| ZNF7 | - | - | - | - | 3 | Gain | - |
| ZNF703 | - | - | - | - | 1 | Loss | - |
| ZNF704 | - | - | - | - | 3 | Gain | - |
| ZNF706 | - | - | - | - | 3 | Gain | - |
| ZNF707 | - | - | - | - | 3 | Gain | - |
| ZNF717 | - | - | - | - | 1 | Loss | - |
| ZNF728 | p.G169E | Missense | SNP | 0.503 | 2 | - | - |
| ZNF746 | p.R583P | Missense | SNP | 0.507 | 2 | - | - |
| ZNF766 | p.H429Y | Missense | SNP | 0.429 | 2 | - | - |
| ZNF777 | p.A362V | Missense | SNP | 0.517 | 2 | - | - |
| ZNF778 | p.R413* | Nonsense | SNP | 0.494 | 2 | - | - |
| ZNF79 | p.L460F | Missense | SNP | 1.000 | 2 | - | - |
| ZNF804A | p.D304Rfs*18 p.S454F | Frame_Shift_Ins Missense | INS SNP | 0.286 0.538 | 2 | - | - |
| ZNF831 | - | - | - | - | 11 | Amp | - |
| ZNF837 | p.R439H | Missense | SNP | 0.417 | 2 | - | - |
| ZNF852 | - | - | - | - | 1 | Loss | - |
| ZNF853 | p.E136K | Missense | SNP | 0.507 | 2 | - | - |
| ZNF860 | - | - | - | - | 1 | Loss | - |
| ZNF878 | p.L410F | Missense | SNP | 0.489 | 2 | - | - |
| ZNF880 | p.F106L | Missense | SNP | 0.081 | 2 | - | - |
| ZNF90 | p.P62S p.S549A | Missense Missense | SNP SNP | 0.487 0.467 | 2 | - | - |
| ZNF93 | p.R116K | Missense | SNP | 0.476 | 2 | - | - |
| ZNFX1 | - | - | - | - | 3 | Gain | - |
| ZPBP2 | p.R246W | Missense | SNP | 0.443 | 2 | - | - |
| ZPR1 | - | - | - | - | 1 | Loss | - |
| ZRANB1 | p.S447L | Missense | SNP | 0.549 | 2 | - | - |
| ZRANB3 | p.K322N | Missense | SNP | 0.466 | 2 | - | - |
| ZSCAN18 | p.S405L | Missense | SNP | 0.509 | 2 | - | - |
| ZSCAN31 | p.E49K | Missense | SNP | 0.519 | 2 | - | - |
| ZSCAN32 | p.X123_splice | Splice_Site | SNP | 0.552 | 2 | - | - |
| ZSWIM1 | - | - | - | - | 3 | Gain | - |
| ZSWIM3 | - | - | - | - | 3 | Gain | - |
| ZSWIM6 | p.E613Rfs*5 p.S1081F | Frame_Shift_Ins Missense | INS SNP | 0.249 0.472 | 2 | - | - |
| ZW10 | - | - | - | - | 1 | Loss | - |
| ZXDA | p.V757I | Missense | SNP | 1.000 | ND | ND | - |