Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A1CF | . | Splice_Site | SNP | 0.436 | 2 | - | - |
AAGAB | - | - | - | - | 3 | Gain | - |
AAK1 | - | - | - | - | 1 | Loss | - |
AAMP | - | - | - | - | 1 | Loss | - |
AANAT | p.X152_splice | Splice_Site | SNP | 0.392 | 3 | Gain | - |
AATK | p.E1294K p.S1074L | Missense Missense | SNP SNP | 0.149 0.416 | 3 | Gain | - |
ABCA10 | p.P948F p.P238L | Missense Missense | MNP SNP | 0.517 0.521 | 3 | Gain | - |
ABCA12 | - | - | - | - | 1 | Loss | - |
ABCA13 | p.P675S | Missense | SNP | 0.391 | 1 | Loss | - |
ABCA4 | p.S1709F | Missense | SNP | 0.506 | 3 | Gain | - |
ABCA5 | - | - | - | - | 3 | Gain | - |
ABCA6 | - | - | - | - | 3 | Gain | - |
ABCA8 | - | - | - | - | 3 | Gain | - |
ABCA9 | - | - | - | - | 3 | Gain | - |
ABCB11 | - | - | - | - | 1 | Loss | - |
ABCB5 | - | - | - | - | 1 | Loss | - |
ABCB6 | - | - | - | - | 1 | Loss | - |
ABCC11 | p.G202E | Missense | SNP | 0.510 | 2 | - | - |
ABCC4 | - | - | - | - | 1 | Loss | - |
ABCC6 | p.G240E | Missense | SNP | 0.478 | 2 | - | - |
ABCC8 | - | - | - | - | 1 | Loss | - |
ABCC9 | - | - | - | - | 1 | Loss | - |
ABCD2 | p.R393Q | Missense | SNP | 0.413 | 2 | - | - |
ABCD3 | - | - | - | - | 3 | Gain | - |
ABCF3 | p.L214W | Missense | SNP | 0.426 | 2 | - | - |
ABCG1 | - | - | - | - | 1 | Loss | - |
ABCG2 | - | - | - | - | 1 | Loss | - |
ABCG5 | - | - | - | - | 1 | Loss | - |
ABCG8 | - | - | - | - | 1 | Loss | - |
ABHD1 | - | - | - | - | 1 | Loss | - |
ABHD13 | - | - | - | - | 1 | Loss | - |
ABHD14A | - | - | - | - | 1 | Loss | - |
ABHD14A-ACY1 | - | - | - | - | 1 | Loss | - |
ABHD14B | - | - | - | - | 1 | Loss | - |
ABHD16B | - | - | - | - | 3 | Gain | - |
ABHD17C | - | - | - | - | 3 | Gain | - |
ABHD2 | - | - | - | - | 3 | Gain | - |
ABHD5 | - | - | - | - | 1 | Loss | - |
ABHD6 | - | - | - | - | 1 | Loss | - |
ABHD8 | p.S286N | Missense | SNP | 0.653 | 2 | - | - |
ABI1 | - | - | - | - | 1 | Loss | - |
ABI2 | - | - | - | - | 1 | Loss | - |
ABLIM3 | - | - | - | - | 1 | Loss | - |
ABRAXAS1 | - | - | - | - | 1 | Loss | - |
AC001226.2 | - | - | - | - | 1 | Loss | - |
AC003002.1 | - | - | - | - | 3 | Gain | - |
AC003002.2 | - | - | - | - | 3 | Gain | - |
AC003002.3 | - | - | - | - | 3 | Gain | - |
AC003005.1 | - | - | - | - | 3 | Gain | - |
AC003006.1 | - | - | - | - | 3 | Gain | - |
AC004076.1 | - | - | - | - | 3 | Gain | - |
AC004080.3 | - | - | - | - | 1 | Loss | - |
AC004593.3 | - | - | - | - | 1 | Loss | - |
AC004691.2 | - | - | - | - | 1 | Loss | - |
AC004805.1 | - | - | - | - | 3 | Gain | - |
AC005041.1 | - | - | - | - | 1 | Loss | - |
AC005154.5 | - | - | - | - | 21 | Amp | - |
AC005702.1 | - | - | - | - | 3 | Gain | - |
AC005837.2 | - | - | - | - | 3 | Gain | - |
AC006030.1 | - | - | - | - | 1 | Loss | - |
AC006059.2 | - | - | - | - | 1 | Loss | - |
AC006254.1 | - | - | - | - | 1 | Loss | - |
AC006978.2 | - | - | - | - | 21 | Amp | - |
AC007040.2 | - | - | - | - | 1 | Loss | - |
AC007240.1 | - | - | - | - | 1 | Loss | - |
AC007998.2 | - | - | - | - | 1 | Loss | - |
AC008073.3 | - | - | - | - | 1 | Loss | - |
AC008403.1 | - | - | - | - | 3 | Gain | - |
AC008575.1 | - | - | - | - | 1 | Loss | - |
AC008581.2 | - | - | - | - | 1 | Loss | - |
AC008676.3 | - | - | - | - | 1 | Loss | - |
AC008687.4 | - | - | - | - | 3 | Gain | - |
AC008687.8 | - | - | - | - | 3 | Gain | - |
AC008695.1 | - | - | - | - | 1 | Loss | - |
AC008750.8 | - | - | - | - | 3 | Gain | - |
AC009336.2 | - | - | - | - | 1 | Loss | - |
AC009690.1 | - | - | - | - | 3 | Gain | - |
AC009690.3 | - | - | - | - | 3 | Gain | - |
AC010132.3 | - | - | - | - | 1 | Loss | - |
AC010197.2 | - | - | - | - | 1 | Loss | - |
AC010255.3 | - | - | - | - | 1 | Loss | - |
AC010327.1 | - | - | - | - | 3 | Gain | - |
AC010487.3 | - | - | - | - | 3 | Gain | - |
AC010522.1 | - | - | - | - | 3 | Gain | - |
AC010619.1 | - | - | - | - | 3 | Gain | - |
AC011330.3 | - | - | - | - | 1 | Loss | - |
AC011452.1 | - | - | - | - | 3 | Gain | - |
AC011473.4 | - | - | - | - | 3 | Gain | - |
AC011604.2 | - | - | - | - | 1 | Loss | - |
AC012254.2 | - | - | - | - | 1 | Loss | - |
AC012476.1 | - | - | - | - | 1 | Loss | - |
AC012651.1 | - | - | - | - | 1 | Loss | - |
AC013394.1 | - | - | - | - | 3 | Gain | - |
AC013489.1 | - | - | - | - | 3 | Gain | - |
AC013717.1 | - | - | - | - | 1 | Loss | - |
AC017083.3 | - | - | - | - | 1 | Loss | - |
AC018362.3 | - | - | - | - | 1 | Loss | - |
AC018512.1 | - | - | - | - | 1 | Loss | - |
AC018523.2 | - | - | - | - | 1 | Loss | - |
AC018755.2 | - | - | - | - | 3 | Gain | - |
AC019117.2 | - | - | - | - | 1 | Loss | - |
AC020909.1 | - | - | - | - | 3 | Gain | - |
AC020922.1 | - | - | - | - | 3 | Gain | - |
AC022335.1 | - | - | - | - | 1 | Loss | - |
AC022384.1 | - | - | - | - | 1 | Loss | - |
AC022414.1 | - | - | - | - | 1 | Loss | - |
AC026398.1 | - | - | - | - | 1 | Loss | - |
AC037459.1 | - | - | - | - | 1 | Loss | - |
AC046185.1 | - | - | - | - | 3 | Gain | - |
AC068547.1 | - | - | - | - | 1 | Loss | - |
AC068580.4 | - | - | - | - | 1 | Loss | - |
AC068831.7 | - | - | - | - | 3 | Gain | - |
AC068946.1 | - | - | - | - | 1 | Loss | - |
AC068946.2 | - | - | - | - | 1 | Loss | - |
AC069368.1 | - | - | - | - | 3 | Gain | - |
AC073082.1 | - | - | - | - | 1 | Loss | - |
AC073283.3 | - | - | - | - | 1 | Loss | - |
AC079447.1 | - | - | - | - | 3 | Gain | - |
AC084337.2 | - | - | - | - | 1 | Loss | - |
AC087289.3 | - | - | - | - | 3 | Gain | - |
AC087632.1 | - | - | - | - | 3 | Gain | - |
AC087721.2 | - | - | - | - | 1 | Loss | - |
AC090004.1 | - | - | - | - | 1 | Loss | - |
AC090227.1 | - | - | - | - | 1 | Loss | - |
AC090360.1 | - | - | - | - | 1 | Loss | - |
AC090517.4 | - | - | - | - | 3 | Gain | - |
AC090527.2 | - | - | - | - | 1 | Loss | - |
AC091167.2 | - | - | - | - | 3 | Gain | - |
AC091167.6 | - | - | - | - | 3 | Gain | - |
AC091167.7 | - | - | - | - | 3 | Gain | - |
AC091551.1 | - | - | - | - | 1 | Loss | - |
AC091959.3 | - | - | - | - | 1 | Loss | - |
AC092042.3 | - | - | - | - | 1 | Loss | - |
AC092587.1 | - | - | - | - | 3 | Gain | - |
AC092647.5 | - | - | - | - | 20 | Amp | - |
AC093423.3 | - | - | - | - | 3 | Gain | - |
AC093827.5 | - | - | - | - | 1 | Loss | - |
AC093899.2 | - | - | - | - | 1 | Loss | - |
AC096887.1 | - | - | - | - | 1 | Loss | - |
AC097634.4 | - | - | - | - | 1 | Loss | - |
AC097636.1 | - | - | - | - | 1 | Loss | - |
AC097637.1 | - | - | - | - | 1 | Loss | - |
AC098582.1 | - | - | - | - | 1 | Loss | - |
AC098650.1 | - | - | - | - | 1 | Loss | - |
AC100868.1 | - | - | - | - | 3 | Gain | - |
AC104109.3 | - | - | - | - | 1 | Loss | - |
AC104304.1 | - | - | - | - | 1 | Loss | - |
AC104389.4 | - | - | - | - | 1 | Loss | - |
AC104389.5 | - | - | - | - | 1 | Loss | - |
AC104452.1 | - | - | - | - | 1 | Loss | - |
AC107871.1 | - | - | - | - | 3 | Gain | - |
AC107959.5 | - | - | - | - | 1 | Loss | - |
AC108488.2 | - | - | - | - | 1 | Loss | - |
AC109583.3 | - | - | - | - | 1 | Loss | - |
AC112229.3 | - | - | - | - | 3 | Gain | - |
AC113348.2 | - | - | - | - | 3 | Gain | - |
AC113554.1 | - | - | - | - | 3 | Gain | - |
AC116366.3 | - | - | - | - | 1 | Loss | - |
AC118553.2 | - | - | - | - | 3 | Gain | - |
AC126283.2 | - | - | - | - | 1 | Loss | - |
AC127029.3 | - | - | - | - | 3 | Gain | - |
AC131097.2 | - | - | - | - | 1 | Loss | - |
AC138647.1 | - | - | - | - | 3 | Gain | - |
AC138696.1 | - | - | - | - | 3 | Gain | - |
AC139491.7 | - | - | - | - | 3 | Gain | - |
AC139530.2 | - | - | - | - | 3 | Gain | - |
AC142391.1 | - | - | - | - | 1 | Loss | - |
AC187653.1 | - | - | - | - | 1 | Loss | - |
AC244517.10 | - | - | - | - | 1 | Loss | - |
AC245033.1 | - | - | - | - | 3 | Gain | - |
ACAA1 | - | - | - | - | 1 | Loss | - |
ACAA2 | - | - | - | - | 1 | Loss | - |
ACACB | p.P850L | Missense | SNP | 0.465 | 2 | - | - |
ACADL | - | - | - | - | 1 | Loss | - |
ACAN | - | - | - | - | 3 | Gain | - |
ACBD5 | p.P95L | Missense | SNP | 0.082 | 12 | Amp | - |
ACBD7 | - | - | - | - | 1 | Loss | - |
ACCSL | p.I171M | Missense | SNP | 0.578 | 2 | - | - |
ACE | - | - | - | - | 3 | Gain | - |
ACHE | p.W148* | Nonsense | SNP | 0.306 | 2 | - | - |
ACIN1 | p.E413K p.G28E | Missense Missense | SNP SNP | 0.524 0.197 | 2 | - | - |
ACKR2 | - | - | - | - | 1 | Loss | - |
ACKR3 | - | - | - | - | 1 | Loss | - |
ACLY | - | - | - | - | 1 | Loss | - |
ACMSD | - | - | - | - | 1 | Loss | - |
ACOD1 | - | - | - | - | 1 | Loss | - |
ACOT12 | - | - | - | - | 1 | Loss | - |
ACOX1 | - | - | - | - | 3 | Gain | - |
ACOX2 | p.F122L | Missense | SNP | 1.000 | 1 | Loss | - |
ACOXL | - | - | - | - | 3 | Gain | - |
ACP1 | - | - | - | - | 1 | Loss | - |
ACP4 | - | - | - | - | 3 | Gain | - |
ACSBG1 | - | - | - | - | 3 | Gain | - |
ACSL3 | - | - | - | - | 1 | Loss | - |
ACSL6 | - | - | - | - | 1 | Loss | - |
ACSM4 | p.S285F | Missense | SNP | 1.000 | 2 | - | - |
ACTB | - | - | - | - | 1 | Loss | - |
ACTBL2 | - | - | - | - | 1 | Loss | - |
ACTG1 | - | - | - | - | 3 | Gain | - |
ACTG2 | - | - | - | - | 1 | Loss | - |
ACTN1 | p.S894F | Missense | SNP | 0.717 | 2 | - | - |
ACTN2 | p.D612N | Missense | SNP | 0.340 | 2 | - | - |
ACTN4 | p.S62F | Missense | SNP | 0.497 | 2 | - | - |
ACTR1B | - | - | - | - | 3 | Gain | - |
ACTR2 | - | - | - | - | 1 | Loss | - |
ACTR3 | - | - | - | - | 3 | Gain | - |
ACTR8 | - | - | - | - | 1 | Loss | - |
ACVR1 | - | - | - | - | 1 | Loss | - |
ACVR1C | - | - | - | - | 1 | Loss | - |
ACVR2A | - | - | - | - | 1 | Loss | - |
ACVR2B | - | - | - | - | 1 | Loss | - |
ACY1 | - | - | - | - | 1 | Loss | - |
ACYP2 | - | - | - | - | 1 | Loss | - |
ADAD1 | - | - | - | - | 1 | Loss | - |
ADAL | - | - | - | - | 1 | Loss | - |
ADAM10 | - | - | - | - | 3 | Gain | - |
ADAM17 | - | - | - | - | 1 | Loss | - |
ADAM19 | - | - | - | - | 1 | Loss | - |
ADAM21 | p.E402K | Missense | SNP | 0.433 | 2 | - | - |
ADAM23 | - | - | - | - | 1 | Loss | - |
ADAM28 | - | - | - | - | 1 | Loss | - |
ADAM30 | - | - | - | - | 3 | Gain | - |
ADAM32 | p.G543R | Missense | SNP | 0.574 | 2 | - | - |
ADAM7 | - | - | - | - | 1 | Loss | - |
ADAM8 | - | - | - | - | 3 | Gain | - |
ADAMDEC1 | - | - | - | - | 1 | Loss | - |
ADAMTS1 | - | - | - | - | 1 | Loss | - |
ADAMTS10 | p.E173K p.L12F | Missense Missense | SNP SNP | 0.505 0.814 | 2 | - | - |
ADAMTS12 | p.P1414S | Missense | SNP | 0.318 | 2 | - | - |
ADAMTS17 | - | - | - | - | 3 | Gain | - |
ADAMTS18 | p.T1109I | Missense | SNP | 0.608 | 2 | - | - |
ADAMTS19 | - | - | - | - | 1 | Loss | - |
ADAMTS2 | p.G483E | Missense | SNP | 0.449 | 3 | Gain | - |
ADAMTS20 | p.E1005K | Missense | SNP | 0.466 | 2 | - | - |
ADAMTS4 | p.P56A | Missense | SNP | 0.312 | 2 | - | - |
ADAMTS5 | - | - | - | - | 1 | Loss | - |
ADAMTS6 | p.G1116E p.G713E p.V647I | Missense Missense Missense | SNP SNP SNP | 0.429 0.298 0.316 | 1 | Loss | - |
ADAMTS7 | - | - | - | - | 3 | Gain | - |
ADAMTS9 | - | - | - | - | 1 | Loss | - |
ADAMTSL3 | - | - | - | - | 3 | Gain | - |
ADAP1 | - | - | - | - | 1 | Loss | - |
ADARB1 | - | - | - | - | 1 | Loss | - |
ADARB2 | p.S463L | Missense | SNP | 0.686 | 1 | Loss | - |
ADCK5 | - | - | - | - | 3 | Gain | - |
ADCY1 | p.R774M | Missense | SNP | 0.595 | 1 | Loss | - |
ADCY2 | p.M416I | Missense | SNP | 0.641 | 2 | - | - |
ADCY3 | - | - | - | - | 1 | Loss | - |
ADCY7 | - | - | - | - | 1 | Loss | - |
ADCY8 | - | - | - | - | 3 | Gain | - |
ADCY9 | - | - | - | - | 1 | Loss | - |
ADCYAP1 | - | - | - | - | 1 | Loss | - |
ADCYAP1R1 | p.F419L | Missense | SNP | 0.597 | 1 | Loss | - |
ADD2 | - | - | - | - | 1 | Loss | - |
ADGB | p.S464F | Missense | SNP | 0.238 | 2 | - | - |
ADGRA1 | p.P195S | Missense | SNP | 0.306 | 3 | Gain | - |
ADGRA2 | - | - | - | - | 1 | Loss | - |
ADGRB1 | p.P350L | Missense | SNP | 0.298 | 3 | Gain | - |
ADGRF3 | - | - | - | - | 1 | Loss | - |
ADGRF5 | p.S1060F | Missense | SNP | 0.516 | 2 | - | - |
ADGRG3 | p.G165S | Missense | SNP | 0.542 | 2 | - | - |
ADGRG4 | p.L1992F | Missense | SNP | 0.996 | ND | ND | - |
ADGRL4 | p.N127I | Missense | SNP | 0.238 | 2 | - | - |
ADGRV1 | p.F654L p.S3432F p.G4979E | Missense Missense Missense | SNP SNP SNP | 0.174 0.529 0.422 | 1 | Loss | - |
ADH1A | p.G45E | Missense | SNP | 1.000 | 1 | Loss | - |
ADH1B | - | - | - | - | 1 | Loss | - |
ADH1C | - | - | - | - | 1 | Loss | - |
ADH4 | - | - | - | - | 1 | Loss | - |
ADH5 | - | - | - | - | 1 | Loss | - |
ADH6 | - | - | - | - | 1 | Loss | - |
ADH7 | - | - | - | - | 1 | Loss | - |
ADI1 | - | - | - | - | 1 | Loss | - |
ADIPOQ | p.G217E | Missense | SNP | 0.364 | 2 | - | - |
ADM | - | - | - | - | 1 | Loss | - |
ADM5 | - | - | - | - | 3 | Gain | - |
ADNP2 | - | - | - | - | 1 | Loss | - |
ADORA3 | - | - | - | - | 3 | Gain | - |
ADPGK | - | - | - | - | 3 | Gain | - |
ADPRHL1 | - | - | - | - | 1 | Loss | - |
ADRA1A | - | - | - | - | 1 | Loss | - |
ADRA1B | - | - | - | - | 3 | Gain | - |
ADRA2A | p.G356E | Missense | SNP | 0.691 | 2 | - | - |
ADRA2B | - | - | - | - | 3 | Gain | - |
ADRB2 | - | - | - | - | 1 | Loss | - |
ADSL | p.S140C | Missense | SNP | 0.418 | 2 | - | - |
AEBP1 | - | - | - | - | 1 | Loss | - |
AEBP2 | - | - | - | - | 0 | Del | - |
AEN | - | - | - | - | 3 | Gain | - |
AFAP1L1 | - | - | - | - | 1 | Loss | - |
AFF1 | - | - | - | - | 1 | Loss | - |
AFF3 | p.R1102* | Nonsense | SNP | 0.403 | 3 | Gain | - |
AFF4 | - | - | - | - | 1 | Loss | - |
AFG3L2 | - | - | - | - | 1 | Loss | - |
AFM | p.R169K | Missense | SNP | 0.462 | 2 | - | - |
AFMID | - | - | - | - | 3 | Gain | - |
AFTPH | - | - | - | - | 1 | Loss | - |
AGAP1 | - | - | - | - | 1 | Loss | - |
AGBL1 | - | - | - | - | 3 | Gain | - |
AGBL4 | p.S395F | Missense | SNP | 0.513 | 2 | - | - |
AGBL5 | - | - | - | - | 1 | Loss | - |
AGFG1 | - | - | - | - | 1 | Loss | - |
AGGF1 | - | - | - | - | 1 | Loss | - |
AGL | - | - | - | - | 3 | Gain | - |
AGMO | - | - | - | - | 1 | Loss | - |
AGO2 | - | - | - | - | 3 | Gain | - |
AGPAT1 | p.R253K | Missense | SNP | 0.238 | 2 | - | - |
AGPAT3 | - | - | - | - | 1 | Loss | - |
AGPAT5 | - | - | - | - | 1 | Loss | - |
AGPS | - | - | - | - | 1 | Loss | - |
AGR2 | - | - | - | - | 1 | Loss | - |
AGR3 | - | - | - | - | 1 | Loss | - |
AGXT | - | - | - | - | 1 | Loss | - |
AHCYL1 | - | - | - | - | 3 | Gain | - |
AHDC1 | p.E272K | Missense | SNP | 0.548 | 2 | - | - |
AHR | - | - | - | - | 1 | Loss | - |
AHSA1 | p.T330I | Missense | SNP | 0.391 | 2 | - | - |
AIMP1 | - | - | - | - | 1 | Loss | - |
AIMP2 | - | - | - | - | 1 | Loss | - |
AIRE | p.P497S | Missense | SNP | 0.350 | 1 | Loss | - |
AJUBA | p.G34S | Missense | SNP | 0.444 | 2 | - | - |
AK6 | - | - | - | - | 1 | Loss | - |
AKAIN1 | - | - | - | - | 1 | Loss | - |
AKAP11 | - | - | - | - | 1 | Loss | - |
AKAP13 | - | - | - | - | 3 | Gain | - |
AKAP3 | p.P506S | Missense | SNP | 1.000 | 2 | - | - |
AKAP6 | - | - | - | - | 3 | Gain | - |
AKIP1 | - | - | - | - | 1 | Loss | - |
AKNA | p.P772S | Missense | SNP | 0.824 | 2 | - | - |
AKNAD1 | - | - | - | - | 3 | Gain | - |
AKR1C1 | - | - | - | - | 1 | Loss | - |
AKR1C2 | - | - | - | - | 1 | Loss | - |
AKR1C3 | - | - | - | - | 1 | Loss | - |
AKR1C4 | - | - | - | - | 1 | Loss | - |
AKR1C8P | - | - | - | - | 1 | Loss | - |
AKR1E2 | p.S295I | Missense | SNP | 0.333 | 1 | Loss | - |
AKT1S1 | - | - | - | - | 3 | Gain | - |
AL035078.4 | - | - | - | - | 1 | Loss | - |
AL049557.1 | - | - | - | - | 3 | Gain | - |
AL078584.1 | p.R11K | Missense | SNP | 0.221 | ND | ND | - |
AL117339.5 | - | - | - | - | 1 | Loss | - |
AL121845.2 | - | - | - | - | 3 | Gain | - |
AL121845.3 | - | - | - | - | 3 | Gain | - |
AL157392.5 | - | - | - | - | 1 | Loss | - |
AL162377.3 | - | - | - | - | 1 | Loss | - |
AL360181.3 | - | - | - | - | 3 | Gain | - |
AL449266.1 | - | - | - | - | 3 | Gain | - |
AL512506.3 | - | - | - | - | 1 | Loss | - |
AL592490.1 | - | - | - | - | 1 | Loss | - |
AL603832.3 | - | - | - | - | 3 | Gain | - |
AL845331.2 | - | - | - | - | 3 | Gain | - |
ALAS1 | - | - | - | - | 1 | Loss | - |
ALDH16A1 | - | - | - | - | 3 | Gain | - |
ALDH1A2 | - | - | - | - | 3 | Gain | - |
ALDH1A3 | - | - | - | - | 3 | Gain | - |
ALDH7A1 | - | - | - | - | 1 | Loss | - |
ALDH9A1 | p.F448C | Missense | SNP | 0.504 | 2 | - | - |
ALG11 | - | - | - | - | 1 | Loss | - |
ALG14 | - | - | - | - | 3 | Gain | - |
ALG5 | - | - | - | - | 1 | Loss | - |
ALK | - | - | - | - | 1 | Loss | - |
ALKAL2 | - | - | - | - | 1 | Loss | - |
ALLC | p.G223E | Missense | SNP | 0.712 | 1 | Loss | - |
ALMS1 | - | - | - | - | 1 | Loss | - |
ALOX5AP | - | - | - | - | 1 | Loss | - |
ALOXE3 | p.E83K | Missense | SNP | 0.468 | 2 | - | - |
ALPG | - | - | - | - | 1 | Loss | - |
ALPI | - | - | - | - | 1 | Loss | - |
ALPK1 | - | - | - | - | 1 | Loss | - |
ALPK2 | p.W1230* | Nonsense | MNP | 0.670 | 1 | Loss | - |
ALPK3 | - | - | - | - | 3 | Gain | - |
ALPP | - | - | - | - | 1 | Loss | - |
ALS2 | - | - | - | - | 1 | Loss | - |
ALS2CL | - | - | - | - | 1 | Loss | - |
ALS2CR12 | - | - | - | - | 1 | Loss | - |
ALX3 | - | - | - | - | 3 | Gain | - |
ALYREF | - | - | - | - | 3 | Gain | - |
AMER2 | p.P242L | Missense | SNP | 0.177 | 2 | - | - |
AMER3 | p.L40I | Missense | SNP | 0.521 | 2 | - | - |
AMIGO1 | - | - | - | - | 3 | Gain | - |
AMIGO3 | - | - | - | - | 1 | Loss | - |
AMMECR1L | - | - | - | - | 3 | Gain | - |
AMOTL1 | p.S39F | Missense | SNP | 0.431 | 2 | - | - |
AMOTL2 | p.S224F | Missense | SNP | 0.295 | 2 | - | - |
AMPD1 | p.F378I | Missense | SNP | 0.339 | 3 | Gain | - |
AMPD2 | - | - | - | - | 3 | Gain | - |
AMPD3 | - | - | - | - | 1 | Loss | - |
AMPH | - | - | - | - | 1 | Loss | - |
AMT | - | - | - | - | 1 | Loss | - |
AMY1A | - | - | - | - | 3 | Gain | - |
AMY1B | - | - | - | - | 3 | Gain | - |
AMY1C | - | - | - | - | 3 | Gain | - |
AMY2A | - | - | - | - | 3 | Gain | - |
AMY2B | - | - | - | - | 3 | Gain | - |
AMZ1 | - | - | - | - | 1 | Loss | - |
AMZ2 | - | - | - | - | 3 | Gain | - |
ANAPC1 | - | - | - | - | 3 | Gain | - |
ANAPC11 | - | - | - | - | 3 | Gain | - |
ANGPT2 | - | - | - | - | 1 | Loss | - |
ANK2 | - | - | - | - | 1 | Loss | - |
ANKAR | - | - | - | - | 1 | Loss | - |
ANKDD1A | - | - | - | - | 3 | Gain | - |
ANKDD1B | - | - | - | - | 1 | Loss | - |
ANKHD1 | - | - | - | - | 1 | Loss | - |
ANKHD1-EIF4EBP3 | - | - | - | - | 1 | Loss | - |
ANKK1 | p.R736Q | Missense | SNP | 0.391 | 2 | - | - |
ANKMY1 | - | - | - | - | 1 | Loss | - |
ANKMY2 | - | - | - | - | 1 | Loss | - |
ANKRA2 | - | - | - | - | 1 | Loss | - |
ANKRD10 | - | - | - | - | 1 | Loss | - |
ANKRD11 | p.G149R | Missense | SNP | 0.565 | 2 | - | - |
ANKRD12 | - | - | - | - | 1 | Loss | - |
ANKRD16 | - | - | - | - | 1 | Loss | - |
ANKRD23 | - | - | - | - | 3 | Gain | - |
ANKRD26 | - | - | - | - | 1 | Loss | - |
ANKRD28 | p.S1048F | Missense | SNP | 1.000 | 1 | Loss | - |
ANKRD30A | - | - | - | - | 1 | Loss | - |
ANKRD30B | p.S277F | Missense | SNP | 1.000 | 1 | Loss | - |
ANKRD31 | - | - | - | - | 1 | Loss | - |
ANKRD33B | p.R427* | Nonsense | SNP | 0.500 | 2 | - | - |
ANKRD34B | - | - | - | - | 1 | Loss | - |
ANKRD34C | p.S395F | Missense | SNP | 0.484 | 3 | Gain | - |
ANKRD35 | p.P525L | Missense | SNP | 0.629 | 2 | - | - |
ANKRD36 | - | - | - | - | 3 | Gain | - |
ANKRD36B | - | - | - | - | 3 | Gain | - |
ANKRD36C | - | - | - | - | 3 | Gain | - |
ANKRD39 | - | - | - | - | 3 | Gain | - |
ANKRD44 | - | - | - | - | 1 | Loss | - |
ANKRD50 | - | - | - | - | 1 | Loss | - |
ANKRD53 | - | - | - | - | 1 | Loss | - |
ANKRD55 | - | - | - | - | 1 | Loss | - |
ANKRD61 | - | - | - | - | 1 | Loss | - |
ANKRD62 | - | - | - | - | 1 | Loss | - |
ANKRD63 | - | - | - | - | 1 | Loss | - |
ANKZF1 | - | - | - | - | 1 | Loss | - |
ANLN | - | - | - | - | 1 | Loss | - |
ANO10 | - | - | - | - | 1 | Loss | - |
ANO3 | - | - | - | - | 1 | Loss | - |
ANO5 | - | - | - | - | 1 | Loss | - |
ANO7 | - | - | - | - | 1 | Loss | - |
ANO9 | - | - | - | - | 1 | Loss | - |
ANP32A | - | - | - | - | 3 | Gain | - |
ANPEP | - | - | - | - | 3 | Gain | - |
ANTXR1 | - | - | - | - | 1 | Loss | - |
ANTXR2 | - | - | - | - | 1 | Loss | - |
ANXA2 | - | - | - | - | 3 | Gain | - |
ANXA4 | - | - | - | - | 1 | Loss | - |
ANXA5 | - | - | - | - | 1 | Loss | - |
ANXA6 | - | - | - | - | 1 | Loss | - |
AOAH | - | - | - | - | 1 | Loss | - |
AOC3 | p.W335* | Nonsense | SNP | 0.532 | 2 | - | - |
AOX1 | - | - | - | - | 1 | Loss | - |
AP000275.2 | - | - | - | - | 1 | Loss | - |
AP000295.1 | - | - | - | - | 1 | Loss | - |
AP000311.1 | - | - | - | - | 1 | Loss | - |
AP1AR | - | - | - | - | 1 | Loss | - |
AP1S3 | - | - | - | - | 1 | Loss | - |
AP2A1 | - | - | - | - | 3 | Gain | - |
AP2A2 | - | - | - | - | 1 | Loss | - |
AP2M1 | p.R278C | Missense | SNP | 0.479 | 2 | - | - |
AP3B1 | - | - | - | - | 1 | Loss | - |
AP3B2 | p.R444C | Missense | SNP | 0.445 | 3 | Gain | - |
AP3S1 | - | - | - | - | 1 | Loss | - |
AP3S2 | - | - | - | - | 3 | Gain | - |
AP4B1 | - | - | - | - | 3 | Gain | - |
AP4E1 | - | - | - | - | 1 | Loss | - |
AP5Z1 | - | - | - | - | 1 | Loss | - |
APBB1 | - | - | - | - | 1 | Loss | - |
APBB1IP | p.E153K | Missense | SNP | 0.329 | 1 | Loss | - |
APBB2 | - | - | - | - | 1 | Loss | - |
APBB3 | - | - | - | - | 1 | Loss | - |
APC | - | - | - | - | 1 | Loss | - |
APCDD1 | p.P180L | Missense | SNP | 0.968 | 1 | Loss | - |
APEH | - | - | - | - | 1 | Loss | - |
APH1B | - | - | - | - | 3 | Gain | - |
APLF | - | - | - | - | 1 | Loss | - |
APOB | - | - | - | - | 1 | Loss | - |
APOBEC4 | - | - | - | - | 3 | Gain | - |
APOC2 | p.S95C | Missense | SNP | 0.532 | 2 | - | - |
APOH | - | - | - | - | 3 | Gain | - |
APOLD1 | - | - | - | - | 1 | Loss | - |
APP | - | - | - | - | 1 | Loss | - |
APPBP2 | - | - | - | - | 3 | Gain | - |
APPL1 | - | - | - | - | 1 | Loss | - |
AQP1 | - | - | - | - | 1 | Loss | - |
AQP12A | - | - | - | - | 1 | Loss | - |
AQP12B | - | - | - | - | 1 | Loss | - |
AQP9 | - | - | - | - | 3 | Gain | - |
ARAP2 | p.Q1536L | Missense | SNP | 0.338 | 1 | Loss | - |
ARAP3 | - | - | - | - | 1 | Loss | - |
ARC | - | - | - | - | 3 | Gain | - |
ARF4 | - | - | - | - | 1 | Loss | - |
ARFGEF3 | p.G297R p.P542S | Missense Missense | SNP SNP | 0.567 0.388 | 2 | - | - |
ARFIP2 | - | - | - | - | 1 | Loss | - |
ARFRP1 | - | - | - | - | 3 | Gain | - |
ARGLU1 | - | - | - | - | 1 | Loss | - |
ARHGAP12 | - | - | - | - | 1 | Loss | - |
ARHGAP15 | - | - | - | - | 1 | Loss | - |
ARHGAP21 | - | - | - | - | 1 | Loss | - |
ARHGAP23 | p.E805K | Missense | SNP | 0.438 | 2 | - | - |
ARHGAP24 | - | - | - | - | 1 | Loss | - |
ARHGAP25 | - | - | - | - | 1 | Loss | - |
ARHGAP26 | - | - | - | - | 1 | Loss | - |
ARHGAP28 | - | - | - | - | 1 | Loss | - |
ARHGAP29 | - | - | - | - | 3 | Gain | - |
ARHGAP32 | p.P2080S | Missense | SNP | 0.429 | 2 | - | - |
ARHGAP39 | p.S637F p.P174L | Missense Missense | SNP SNP | 0.314 0.301 | 3 | Gain | - |
ARHGAP40 | p.S151F | Missense | SNP | 0.534 | 2 | - | - |
ARHGAP5 | p.E481* p.E489K | Nonsense Missense | SNP SNP | 0.110 0.241 | 2 | - | - |
ARHGDIA | - | - | - | - | 3 | Gain | - |
ARHGDIB | - | - | - | - | 1 | Loss | - |
ARHGEF10 | - | - | - | - | 1 | Loss | - |
ARHGEF28 | - | - | - | - | 1 | Loss | - |
ARHGEF3 | - | - | - | - | 1 | Loss | - |
ARHGEF33 | - | - | - | - | 1 | Loss | - |
ARHGEF37 | - | - | - | - | 1 | Loss | - |
ARHGEF38 | - | - | - | - | 1 | Loss | - |
ARHGEF7 | - | - | - | - | 1 | Loss | - |
ARID1A | p.P1903S | Missense | SNP | 0.709 | 2 | - | - |
ARID3B | - | - | - | - | 3 | Gain | - |
ARID4B | p.S1174F | Missense | SNP | 0.561 | 2 | - | - |
ARID5A | - | - | - | - | 3 | Gain | - |
ARIH1 | - | - | - | - | 3 | Gain | - |
ARIH2 | - | - | - | - | 1 | Loss | - |
ARIH2OS | - | - | - | - | 1 | Loss | - |
ARL10 | - | - | - | - | 3 | Gain | - |
ARL11 | - | - | - | - | 1 | Loss | - |
ARL14EP | - | - | - | - | 1 | Loss | - |
ARL14EPL | - | - | - | - | 1 | Loss | - |
ARL15 | - | - | - | - | 1 | Loss | - |
ARL16 | - | - | - | - | 3 | Gain | - |
ARL4A | - | - | - | - | 1 | Loss | - |
ARL4C | - | - | - | - | 1 | Loss | - |
ARL5A | - | - | - | - | 1 | Loss | - |
ARL5B | - | - | - | - | 1 | Loss | - |
ARL6IP5 | - | - | - | - | 1 | Loss | - |
ARL6IP6 | - | - | - | - | 1 | Loss | - |
ARL8B | - | - | - | - | 1 | Loss | - |
ARMC3 | - | - | - | - | 1 | Loss | - |
ARMC4 | - | - | - | - | 3 | Gain | - |
ARMC7 | - | - | - | - | 3 | Gain | - |
ARMC9 | - | - | - | - | 1 | Loss | - |
ARNT2 | - | - | - | - | 3 | Gain | - |
ARNTL | - | - | - | - | 1 | Loss | - |
ARPC2 | - | - | - | - | 1 | Loss | - |
ARPC4 | - | - | - | - | 1 | Loss | - |
ARPC4-TTLL3 | - | - | - | - | 1 | Loss | - |
ARPC5 | - | - | - | - | 3 | Gain | - |
ARPIN | - | - | - | - | 3 | Gain | - |
ARPP19 | - | - | - | - | 1 | Loss | - |
ARPP21 | - | - | - | - | 1 | Loss | - |
ARRDC3 | - | - | - | - | 1 | Loss | - |
ARRDC4 | - | - | - | - | 3 | Gain | - |
ARSB | - | - | - | - | 1 | Loss | - |
ARSG | - | - | - | - | 3 | Gain | - |
ARSI | - | - | - | - | 1 | Loss | - |
ARSJ | - | - | - | - | 1 | Loss | - |
ARSK | - | - | - | - | 1 | Loss | - |
ART1 | - | - | - | - | 1 | Loss | - |
ART4 | - | - | - | - | 1 | Loss | - |
ART5 | - | - | - | - | 1 | Loss | - |
ASAH1 | - | - | - | - | 1 | Loss | - |
ASAP1 | - | - | - | - | 3 | Gain | - |
ASAP2 | - | - | - | - | 1 | Loss | - |
ASB1 | - | - | - | - | 1 | Loss | - |
ASB13 | - | - | - | - | 1 | Loss | - |
ASB14 | - | - | - | - | 1 | Loss | - |
ASB18 | - | - | - | - | 1 | Loss | - |
ASB3 | - | - | - | - | 1 | Loss | - |
ASB7 | - | - | - | - | 3 | Gain | - |
ASCL2 | - | - | - | - | 1 | Loss | - |
ASCL3 | - | - | - | - | 1 | Loss | - |
ASIC4 | - | - | - | - | 1 | Loss | - |
ASNSD1 | - | - | - | - | 1 | Loss | - |
ASPDH | - | - | - | - | 3 | Gain | - |
ASPM | p.I3211M | Missense | SNP | 0.554 | 3 | Gain | - |
ASPRV1 | - | - | - | - | 1 | Loss | - |
ASPSCR1 | - | - | - | - | 3 | Gain | - |
ASTL | - | - | - | - | 3 | Gain | - |
ASXL1 | p.G66R | Missense | SNP | 0.494 | 2 | - | - |
ASXL2 | p.T939I | Missense | SNP | 0.358 | 1 | Loss | - |
ASXL3 | p.S744F | Missense | SNP | 0.638 | 1 | Loss | - |
ATAD2 | p.R847C | Missense | SNP | 0.512 | 2 | - | - |
ATAD2B | - | - | - | - | 1 | Loss | - |
ATAD3C | p.X248_splice | Splice_Site | SNP | 0.727 | 2 | - | - |
ATF2 | - | - | - | - | 1 | Loss | - |
ATF5 | - | - | - | - | 3 | Gain | - |
ATF7IP | - | - | - | - | 1 | Loss | - |
ATG10 | - | - | - | - | 1 | Loss | - |
ATG12 | - | - | - | - | 1 | Loss | - |
ATG16L1 | - | - | - | - | 1 | Loss | - |
ATG4B | - | - | - | - | 1 | Loss | - |
ATG4C | p.R376* | Nonsense | SNP | 0.336 | 2 | - | - |
ATG7 | - | - | - | - | 1 | Loss | - |
ATG9A | - | - | - | - | 1 | Loss | - |
ATHL1 | p.G190E | Missense | SNP | 0.976 | ND | ND | - |
ATIC | - | - | - | - | 1 | Loss | - |
ATL2 | - | - | - | - | 1 | Loss | - |
ATOH1 | - | - | - | - | 1 | Loss | - |
ATOH8 | p.E321K | Missense | SNP | 0.654 | 1 | Loss | - |
ATOX1 | - | - | - | - | 1 | Loss | - |
ATP10B | - | - | - | - | 3 | Gain | - |
ATP10D | - | - | - | - | 1 | Loss | - |
ATP11A | - | - | - | - | 1 | Loss | - |
ATP13A3 | p.R394C | Missense | SNP | 0.358 | 2 | - | - |
ATP1A1 | - | - | - | - | 3 | Gain | - |
ATP2A2 | p.I752T | Missense | SNP | 0.619 | 2 | - | - |
ATP2B2 | - | - | - | - | 1 | Loss | - |
ATP4B | - | - | - | - | 1 | Loss | - |
ATP5F1A | - | - | - | - | 1 | Loss | - |
ATP5F1C | - | - | - | - | 1 | Loss | - |
ATP5MC3 | - | - | - | - | 1 | Loss | - |
ATP5PB | - | - | - | - | 3 | Gain | - |
ATP5PD | - | - | - | - | 3 | Gain | - |
ATP5PF | - | - | - | - | 1 | Loss | - |
ATP5PO | - | - | - | - | 1 | Loss | - |
ATP6AP1L | - | - | - | - | 1 | Loss | - |
ATP6V0A1 | - | - | - | - | 1 | Loss | - |
ATP6V0A2 | p.E116K | Missense | SNP | 0.505 | 2 | - | - |
ATP6V0E1 | - | - | - | - | 3 | Gain | - |
ATP6V1B1 | - | - | - | - | 1 | Loss | - |
ATP6V1B2 | - | - | - | - | 1 | Loss | - |
ATP6V1C2 | - | - | - | - | 1 | Loss | - |
ATP6V1E2 | - | - | - | - | 1 | Loss | - |
ATP6V1G3 | - | - | - | - | 3 | Gain | - |
ATP7B | - | - | - | - | 1 | Loss | - |
ATP8A1 | p.K150T | Missense | SNP | 0.280 | 1 | Loss | - |
ATP8B1 | - | - | - | - | 1 | Loss | - |
ATP8B2 | p.G25E | Missense | SNP | 0.449 | 2 | - | - |
ATP8B4 | - | - | - | - | 1 | Loss | - |
ATP9A | p.Q434* | Nonsense | SNP | 0.368 | 2 | - | - |
ATP9B | - | - | - | - | 1 | Loss | - |
ATRAID | - | - | - | - | 1 | Loss | - |
ATRIP | - | - | - | - | 1 | Loss | - |
ATXN7 | - | - | - | - | 1 | Loss | - |
ATXN7L2 | - | - | - | - | 3 | Gain | - |
AUP1 | - | - | - | - | 1 | Loss | - |
AURKC | - | - | - | - | 3 | Gain | - |
AUTS2 | p.G867E | Missense | SNP | 0.584 | 2 | - | - |
AVL9 | - | - | - | - | 1 | Loss | - |
AXIN2 | - | - | - | - | 3 | Gain | - |
AZI2 | - | - | - | - | 1 | Loss | - |
B2M | - | - | - | - | 1 | Loss | - |
B3GALT1 | - | - | - | - | 1 | Loss | - |
B3GALT2 | - | - | - | - | 3 | Gain | - |
B3GALT5 | - | - | - | - | 1 | Loss | - |
B3GLCT | - | - | - | - | 1 | Loss | - |
B3GNT2 | - | - | - | - | 1 | Loss | - |
B3GNT7 | - | - | - | - | 1 | Loss | - |
B3GNTL1 | - | - | - | - | 3 | Gain | - |
B4GALNT4 | - | - | - | - | 1 | Loss | - |
B4GALT6 | - | - | - | - | 1 | Loss | - |
B4GALT7 | - | - | - | - | 3 | Gain | - |
BABAM2 | - | - | - | - | 1 | Loss | - |
BACE2 | - | - | - | - | 1 | Loss | - |
BACH1 | - | - | - | - | 1 | Loss | - |
BAHCC1 | - | - | - | - | 3 | Gain | - |
BAHD1 | - | - | - | - | 1 | Loss | - |
BAIAP2 | - | - | - | - | 3 | Gain | - |
BAMBI | - | - | - | - | 1 | Loss | - |
BANK1 | - | - | - | - | 1 | Loss | - |
BAP1 | - | - | - | - | 1 | Loss | - |
BARD1 | - | - | - | - | 1 | Loss | - |
BARHL2 | - | - | - | - | 3 | Gain | - |
BAX | - | - | - | - | 3 | Gain | - |
BAZ2A | p.P1837S | Missense | SNP | 0.597 | 2 | - | - |
BAZ2B | - | - | - | - | 1 | Loss | - |
BBOX1 | - | - | - | - | 1 | Loss | - |
BBS10 | p.K84N | Missense | SNP | 0.483 | 2 | - | - |
BBS12 | p.S110F | Missense | SNP | 1.000 | 1 | Loss | - |
BBS4 | - | - | - | - | 3 | Gain | - |
BBS5 | - | - | - | - | 1 | Loss | - |
BBS7 | - | - | - | - | 1 | Loss | - |
BBS9 | - | - | - | - | 1 | Loss | - |
BCAN | p.P363S | Missense | SNP | 0.577 | 2 | - | - |
BCAR3 | - | - | - | - | 3 | Gain | - |
BCAS2 | p.N98K | Missense | SNP | 0.345 | 3 | Gain | - |
BCAS3 | - | - | - | - | 3 | Gain | - |
BCAT2 | - | - | - | - | 3 | Gain | - |
BCL11A | - | - | - | - | 1 | Loss | - |
BCL2 | - | - | - | - | 1 | Loss | - |
BCL2A1 | - | - | - | - | 3 | Gain | - |
BCL2L10 | - | - | - | - | 1 | Loss | - |
BCL2L11 | - | - | - | - | 3 | Gain | - |
BCL2L12 | - | - | - | - | 3 | Gain | - |
BCL2L14 | - | - | - | - | 1 | Loss | - |
BCL2L15 | - | - | - | - | 3 | Gain | - |
BCS1L | - | - | - | - | 1 | Loss | - |
BDH2 | - | - | - | - | 1 | Loss | - |
BDNF | - | - | - | - | 1 | Loss | - |
BDP1 | p.F1433L | Missense | SNP | 0.394 | 1 | Loss | - |
BEND4 | - | - | - | - | 1 | Loss | - |
BEND7 | - | - | - | - | 1 | Loss | - |
BET1L | - | - | - | - | 1 | Loss | - |
BHLHE40 | - | - | - | - | 1 | Loss | - |
BHMT | - | - | - | - | 1 | Loss | - |
BHMT2 | - | - | - | - | 1 | Loss | - |
BIN1 | - | - | - | - | 3 | Gain | - |
BIN3 | - | - | - | - | 1 | Loss | - |
BIRC5 | - | - | - | - | 3 | Gain | - |
BIRC6 | p.P563S | Missense | SNP | 0.224 | 1 | Loss | - |
BIRC8 | - | - | - | - | 3 | Gain | - |
BIVM | - | - | - | - | 1 | Loss | - |
BIVM-ERCC5 | - | - | - | - | 1 | Loss | - |
BLK | - | - | - | - | 1 | Loss | - |
BLM | p.G950E p.E1272K | Missense Missense | SNP SNP | 0.541 0.492 | 3 | Gain | - |
BLNK | p.P244S | Missense | SNP | 0.418 | 2 | - | - |
BLOC1S6 | - | - | - | - | 1 | Loss | - |
BLVRA | - | - | - | - | 1 | Loss | - |
BMF | - | - | - | - | 1 | Loss | - |
BMI1 | - | - | - | - | 1 | Loss | - |
BMP1 | - | - | - | - | 1 | Loss | - |
BMP10 | - | - | - | - | 1 | Loss | - |
BMP3 | - | - | - | - | 1 | Loss | - |
BMP5 | p.E54K | Missense | SNP | 0.641 | 2 | - | - |
BMP7 | p.W389* | Nonsense | SNP | 0.586 | 2 | - | - |
BMPER | - | - | - | - | 1 | Loss | - |
BMPR1B | - | - | - | - | 1 | Loss | - |
BMPR2 | - | - | - | - | 1 | Loss | - |
BMX | p.S252T | Missense | SNP | 1.000 | ND | ND | - |
BNC1 | - | - | - | - | 3 | Gain | - |
BNIP1 | - | - | - | - | 3 | Gain | - |
BNIP2 | - | - | - | - | 3 | Gain | - |
BNIP3 | - | - | - | - | 3 | Gain | - |
BNIP3L | - | - | - | - | 1 | Loss | - |
BOD1 | - | - | - | - | 3 | Gain | - |
BOD1L1 | p.P1848S | Missense | SNP | 0.690 | 2 | - | - |
BOD1L2 | - | - | - | - | 1 | Loss | - |
BOK | - | - | - | - | 1 | Loss | - |
BOLA3 | - | - | - | - | 1 | Loss | - |
BOLL | - | - | - | - | 1 | Loss | - |
BORA | - | - | - | - | 1 | Loss | - |
BORCS5 | - | - | - | - | 1 | Loss | - |
BORCS8-MEF2B | p.P301S | Missense | SNP | 0.400 | 2 | - | - |
BPIFC | p.P154S | Missense | SNP | 0.446 | 2 | - | - |
BPTF | - | - | - | - | 3 | Gain | - |
BRAT1 | - | - | - | - | 1 | Loss | - |
BRCA2 | - | - | - | - | 1 | Loss | - |
BRD1 | p.R585K | Missense | SNP | 0.559 | 2 | - | - |
BRD7 | - | - | - | - | 1 | Loss | - |
BRD8 | - | - | - | - | 1 | Loss | - |
BRDT | - | - | - | - | 3 | Gain | - |
BRF2 | - | - | - | - | 1 | Loss | - |
BRINP2 | p.D349E | Missense | SNP | 0.434 | 2 | - | - |
BRINP3 | p.X143_splice | Splice_Site | SNP | 0.636 | 3 | Gain | - |
BRIP1 | - | - | - | - | 3 | Gain | - |
BRK1 | - | - | - | - | 1 | Loss | - |
BRMS1L | p.R116C | Missense | SNP | 0.434 | 2 | - | - |
BRPF1 | - | - | - | - | 1 | Loss | - |
BRPF3 | p.H676Y | Missense | SNP | 0.570 | 2 | - | - |
BRSK1 | - | - | - | - | 3 | Gain | - |
BRSK2 | - | - | - | - | 1 | Loss | - |
BRWD1 | - | - | - | - | 1 | Loss | - |
BRWD3 | p.G1671R | Missense | SNP | 0.988 | ND | ND | - |
BSN | p.S1328F p.P2342L | Missense Missense | SNP SNP | 0.986 1.000 | 1 | Loss | - |
BSPH1 | - | - | - | - | 3 | Gain | - |
BTBD1 | - | - | - | - | 3 | Gain | - |
BTBD10 | - | - | - | - | 1 | Loss | - |
BTBD17 | - | - | - | - | 3 | Gain | - |
BTBD8 | - | - | - | - | 3 | Gain | - |
BTD | - | - | - | - | 1 | Loss | - |
BTF3 | - | - | - | - | 1 | Loss | - |
BTLA | p.E238D | Missense | SNP | 0.471 | 2 | - | - |
BTNL10 | . | Splice_Site | SNP | 0.627 | ND | ND | - |
BTNL3 | - | - | - | - | 3 | Gain | - |
BTNL8 | - | - | - | - | 3 | Gain | - |
BTNL9 | - | - | - | - | 3 | Gain | - |
BUB1 | - | - | - | - | 3 | Gain | - |
BUB1B | - | - | - | - | 1 | Loss | - |
BUB1B-PAK6 | - | - | - | - | 1 | Loss | - |
BZW1 | - | - | - | - | 1 | Loss | - |
BZW2 | - | - | - | - | 1 | Loss | - |
C10orf113 | - | - | - | - | 1 | Loss | - |
C10orf67 | - | - | - | - | 1 | Loss | - |
C10orf90 | p.P367L | Missense | SNP | 0.538 | 2 | - | - |
C11orf16 | - | - | - | - | 1 | Loss | - |
C11orf21 | - | - | - | - | 1 | Loss | - |
C11orf40 | - | - | - | - | 1 | Loss | - |
C11orf42 | - | - | - | - | 1 | Loss | - |
C11orf58 | - | - | - | - | 1 | Loss | - |
C12orf42 | p.L15* | Nonsense | SNP | 0.553 | 2 | - | - |
C12orf56 | p.S175L | Missense | SNP | 0.539 | 2 | - | - |
C12orf60 | - | - | - | - | 1 | Loss | - |
C15orf38-AP3S2 | - | - | - | - | 3 | Gain | - |
C15orf39 | p.P419L | Missense | SNP | 0.436 | 3 | Gain | - |
C15orf40 | - | - | - | - | 3 | Gain | - |
C15orf48 | - | - | - | - | 1 | Loss | - |
C15orf53 | - | - | - | - | 1 | Loss | - |
C15orf59 | p.R178Q | Missense | SNP | 0.548 | ND | ND | - |
C15orf61 | - | - | - | - | 3 | Gain | - |
C15orf62 | - | - | - | - | 1 | Loss | - |
C15orf65 | - | - | - | - | 3 | Gain | - |
C16orf46 | p.P202L | Missense | SNP | 0.457 | 2 | - | - |
C17orf53 | p.R507W | Missense | SNP | 0.472 | 2 | - | - |
C17orf58 | - | - | - | - | 3 | Gain | - |
C17orf62 | p.S135F | Missense | SNP | 0.363 | ND | ND | - |
C17orf64 | - | - | - | - | 3 | Gain | - |
C17orf80 | - | - | - | - | 3 | Gain | - |
C17orf99 | - | - | - | - | 3 | Gain | - |
C18orf21 | - | - | - | - | 1 | Loss | - |
C18orf25 | - | - | - | - | 1 | Loss | - |
C18orf32 | - | - | - | - | 1 | Loss | - |
C18orf54 | - | - | - | - | 1 | Loss | - |
C18orf63 | - | - | - | - | 1 | Loss | - |
C19orf18 | - | - | - | - | 3 | Gain | - |
C19orf48 | - | - | - | - | 3 | Gain | - |
C19orf73 | - | - | - | - | 3 | Gain | - |
C19orf81 | - | - | - | - | 3 | Gain | - |
C19orf84 | - | - | - | - | 3 | Gain | - |
C1D | - | - | - | - | 1 | Loss | - |
C1GALT1 | - | - | - | - | 1 | Loss | - |
C1GALT1C1L | - | - | - | - | 1 | Loss | - |
C1orf105 | p.R69S | Missense | SNP | 0.596 | 2 | - | - |
C1orf146 | - | - | - | - | 3 | Gain | - |
C1orf162 | - | - | - | - | 3 | Gain | - |
C1orf167 | p.P678S p.W923* | Missense Nonsense | SNP SNP | 0.250 0.636 | 2 | - | - |
C1orf168 | p.E401K | Missense | SNP | 0.727 | ND | ND | - |
C1orf185 | p.A2T | Missense | SNP | 0.606 | 2 | - | - |
C1orf194 | - | - | - | - | 3 | Gain | - |
C1orf21 | - | - | - | - | 3 | Gain | - |
C1orf53 | - | - | - | - | 3 | Gain | - |
C1QL2 | - | - | - | - | 3 | Gain | - |
C1QL3 | - | - | - | - | 1 | Loss | - |
C1QTNF1 | - | - | - | - | 3 | Gain | - |
C1QTNF2 | - | - | - | - | 3 | Gain | - |
C20orf204 | - | - | - | - | 3 | Gain | - |
C21orf58 | - | - | - | - | 1 | Loss | - |
C21orf62 | - | - | - | - | 1 | Loss | - |
C2CD2 | - | - | - | - | 1 | Loss | - |
C2CD2L | p.D45N | Missense | SNP | 0.780 | 2 | - | - |
C2CD4A | - | - | - | - | 3 | Gain | - |
C2CD4B | - | - | - | - | 3 | Gain | - |
C2CD5 | - | - | - | - | 1 | Loss | - |
C2CD6 | - | - | - | - | 1 | Loss | - |
C2orf15 | - | - | - | - | 3 | Gain | - |
C2orf16 | - | - | - | - | 1 | Loss | - |
C2orf40 | - | - | - | - | 3 | Gain | - |
C2orf42 | p.P118S | Missense | SNP | 0.508 | 1 | Loss | - |
C2orf49 | - | - | - | - | 3 | Gain | - |
C2orf50 | - | - | - | - | 1 | Loss | - |
C2orf66 | - | - | - | - | 1 | Loss | - |
C2orf68 | - | - | - | - | 1 | Loss | - |
C2orf69 | - | - | - | - | 1 | Loss | - |
C2orf70 | - | - | - | - | 1 | Loss | - |
C2orf72 | - | - | - | - | 1 | Loss | - |
C2orf73 | - | - | - | - | 1 | Loss | - |
C2orf74 | - | - | - | - | 1 | Loss | - |
C2orf76 | - | - | - | - | 3 | Gain | - |
C2orf78 | - | - | - | - | 1 | Loss | - |
C2orf80 | - | - | - | - | 1 | Loss | - |
C2orf81 | - | - | - | - | 1 | Loss | - |
C2orf83 | - | - | - | - | 1 | Loss | - |
C2orf88 | - | - | - | - | 1 | Loss | - |
C2orf91 | - | - | - | - | 1 | Loss | - |
C3orf14 | - | - | - | - | 1 | Loss | - |
C3orf18 | - | - | - | - | 1 | Loss | - |
C3orf20 | - | - | - | - | 1 | Loss | - |
C3orf38 | - | - | - | - | 1 | Loss | - |
C3orf49 | - | - | - | - | 1 | Loss | - |
C3orf62 | - | - | - | - | 1 | Loss | - |
C3orf67 | - | - | - | - | 1 | Loss | - |
C3orf84 | p.K180E | Missense | SNP | 1.000 | 1 | Loss | - |
C4A | p.L1070F | Missense | SNP | 0.133 | 2 | - | - |
C4orf17 | - | - | - | - | 1 | Loss | - |
C4orf19 | - | - | - | - | 1 | Loss | - |
C4orf3 | - | - | - | - | 1 | Loss | - |
C4orf36 | - | - | - | - | 1 | Loss | - |
C4orf54 | - | - | - | - | 1 | Loss | - |
C5orf15 | - | - | - | - | 1 | Loss | - |
C5orf24 | - | - | - | - | 1 | Loss | - |
C5orf30 | - | - | - | - | 1 | Loss | - |
C5orf42 | p.P99T | Missense | SNP | 0.435 | ND | ND | - |
C5orf46 | - | - | - | - | 1 | Loss | - |
C5orf47 | - | - | - | - | 3 | Gain | - |
C5orf52 | - | - | - | - | 3 | Gain | - |
C5orf58 | - | - | - | - | 3 | Gain | - |
C5orf60 | - | - | - | - | 3 | Gain | - |
C5orf63 | - | - | - | - | 1 | Loss | - |
C5orf67 | - | - | - | - | 1 | Loss | - |
C7orf25 | - | - | - | - | 1 | Loss | - |
C7orf26 | - | - | - | - | 1 | Loss | - |
C7orf31 | - | - | - | - | 1 | Loss | - |
C7orf50 | - | - | - | - | 1 | Loss | - |
C7orf57 | - | - | - | - | 1 | Loss | - |
C8orf33 | - | - | - | - | 3 | Gain | - |
C8orf34 | p.S250L | Missense | SNP | 0.586 | 2 | - | - |
C8orf48 | - | - | - | - | 1 | Loss | - |
C8orf58 | - | - | - | - | 1 | Loss | - |
C8orf74 | - | - | - | - | 1 | Loss | - |
C8orf82 | - | - | - | - | 3 | Gain | - |
C9orf64 | p.P332L | Missense | SNP | 1.000 | 2 | - | - |
CA11 | - | - | - | - | 3 | Gain | - |
CA12 | - | - | - | - | 3 | Gain | - |
CA13 | p.S106F | Missense | SNP | 0.432 | 2 | - | - |
CA4 | - | - | - | - | 3 | Gain | - |
CAB39 | - | - | - | - | 1 | Loss | - |
CAB39L | - | - | - | - | 1 | Loss | - |
CABIN1 | p.S1030F | Missense | SNP | 0.508 | 2 | - | - |
CABP5 | - | - | - | - | 3 | Gain | - |
CABS1 | p.E73K | Missense | SNP | 0.422 | 2 | - | - |
CACNA1B | p.V77I | Missense | SNP | 0.853 | 2 | - | - |
CACNA1D | - | - | - | - | 1 | Loss | - |
CACNA1F | p.G731E | Missense | SNP | 0.986 | ND | ND | - |
CACNA1G | p.E1863K | Missense | SNP | 0.547 | 2 | - | - |
CACNA1I | p.G1637K | Missense | MNP | 0.349 | 2 | - | - |
CACNA1S | p.G1347R p.P1268L | Missense Missense | SNP SNP | 0.562 0.373 | 2 | - | - |
CACNA2D1 | p.Y1056C p.E103K | Missense Missense | SNP SNP | 0.371 0.455 | 2 | - | - |
CACNA2D2 | - | - | - | - | 1 | Loss | - |
CACNA2D3 | - | - | - | - | 1 | Loss | - |
CACNB1 | p.R56C | Missense | SNP | 0.471 | 2 | - | - |
CACNB2 | - | - | - | - | 1 | Loss | - |
CACNB4 | - | - | - | - | 1 | Loss | - |
CACNG1 | - | - | - | - | 3 | Gain | - |
CACNG4 | - | - | - | - | 3 | Gain | - |
CACNG5 | - | - | - | - | 3 | Gain | - |
CACNG6 | - | - | - | - | 3 | Gain | - |
CACNG7 | - | - | - | - | 3 | Gain | - |
CACNG8 | - | - | - | - | 3 | Gain | - |
CACTIN | p.P200L | Missense | SNP | 0.468 | 2 | - | - |
CAD | - | - | - | - | 1 | Loss | - |
CADM2 | - | - | - | - | 1 | Loss | - |
CADPS | - | - | - | - | 1 | Loss | - |
CALCA | - | - | - | - | 1 | Loss | - |
CALCB | - | - | - | - | 1 | Loss | - |
CALCRL | - | - | - | - | 1 | Loss | - |
CALM2 | - | - | - | - | 1 | Loss | - |
CALML3 | - | - | - | - | 1 | Loss | - |
CALML4 | - | - | - | - | 3 | Gain | - |
CALML5 | - | - | - | - | 1 | Loss | - |
CALY | - | - | - | - | 3 | Gain | - |
CAMK1 | - | - | - | - | 1 | Loss | - |
CAMK1D | p.W245*;p.D246N | Nonsense | MNP | 0.449 | 1 | Loss | - |
CAMK2A | - | - | - | - | 1 | Loss | - |
CAMK2B | - | - | - | - | 1 | Loss | - |
CAMK2D | - | - | - | - | 1 | Loss | - |
CAMK4 | p.E211K | Missense | SNP | 0.700 | 1 | Loss | - |
CAMKMT | - | - | - | - | 1 | Loss | - |
CAMKV | - | - | - | - | 1 | Loss | - |
CAMLG | - | - | - | - | 1 | Loss | - |
CAMP | - | - | - | - | 1 | Loss | - |
CAMSAP2 | - | - | - | - | 3 | Gain | - |
CAND2 | - | - | - | - | 1 | Loss | - |
CANT1 | - | - | - | - | 3 | Gain | - |
CANX | - | - | - | - | 3 | Gain | - |
CAPG | - | - | - | - | 3 | Gain | - |
CAPN10 | - | - | - | - | 1 | Loss | - |
CAPN13 | - | - | - | - | 1 | Loss | - |
CAPN14 | - | - | - | - | 1 | Loss | - |
CAPN3 | - | - | - | - | 1 | Loss | - |
CAPN5 | p.R72Q | Missense | SNP | 0.412 | 2 | - | - |
CAPN7 | - | - | - | - | 1 | Loss | - |
CAPSL | p.E152K | Missense | SNP | 0.443 | 2 | - | - |
CAPZA1 | - | - | - | - | 3 | Gain | - |
CARD10 | p.Q173K | Missense | SNP | 0.593 | 2 | - | - |
CARD11 | p.R650W | Missense | SNP | 0.130 | 1 | Loss | - |
CARD14 | - | - | - | - | 3 | Gain | - |
CARD8 | - | - | - | - | 3 | Gain | - |
CARF | - | - | - | - | 1 | Loss | - |
CARMIL2 | p.Q188* | Nonsense | SNP | 0.458 | 2 | - | - |
CARMIL3 | p.F191L | Missense | SNP | 0.462 | 2 | - | - |
CARS | - | - | - | - | 1 | Loss | - |
CARS2 | - | - | - | - | 1 | Loss | - |
CARTPT | - | - | - | - | 1 | Loss | - |
CASC10 | - | - | - | - | 1 | Loss | - |
CASC4 | - | - | - | - | 1 | Loss | - |
CASKIN2 | - | - | - | - | 3 | Gain | - |
CASP10 | - | - | - | - | 1 | Loss | - |
CASP6 | - | - | - | - | 1 | Loss | - |
CASP8 | - | - | - | - | 1 | Loss | - |
CASQ2 | - | - | - | - | 3 | Gain | - |
CAST | - | - | - | - | 1 | Loss | - |
CATIP | - | - | - | - | 1 | Loss | - |
CATSPER2 | - | - | - | - | 1 | Loss | - |
CATSPER3 | - | - | - | - | 1 | Loss | - |
CAV3 | - | - | - | - | 1 | Loss | - |
CAVIN1 | - | - | - | - | 1 | Loss | - |
CAVIN2 | - | - | - | - | 1 | Loss | - |
CAVIN3 | - | - | - | - | 1 | Loss | - |
CBLL1 | p.R283C | Missense | SNP | 0.409 | 2 | - | - |
CBLN2 | - | - | - | - | 1 | Loss | - |
CBR1 | - | - | - | - | 1 | Loss | - |
CBR3 | - | - | - | - | 1 | Loss | - |
CBS | - | - | - | - | 1 | Loss | - |
CBSL | - | - | - | - | 1 | Loss | - |
CBWD2 | - | - | - | - | 3 | Gain | - |
CBWD5 | - | - | - | - | 3 | Gain | - |
CBX2 | - | - | - | - | 3 | Gain | - |
CBX3 | - | - | - | - | 1 | Loss | - |
CBX4 | - | - | - | - | 3 | Gain | - |
CBX8 | - | - | - | - | 3 | Gain | - |
CBY3 | - | - | - | - | 3 | Gain | - |
CCAR2 | - | - | - | - | 1 | Loss | - |
CCBE1 | - | - | - | - | 1 | Loss | - |
CCDC102B | - | - | - | - | 1 | Loss | - |
CCDC106 | - | - | - | - | 3 | Gain | - |
CCDC112 | - | - | - | - | 1 | Loss | - |
CCDC114 | - | - | - | - | 3 | Gain | - |
CCDC12 | - | - | - | - | 1 | Loss | - |
CCDC121 | - | - | - | - | 1 | Loss | - |
CCDC122 | - | - | - | - | 1 | Loss | - |
CCDC125 | - | - | - | - | 1 | Loss | - |
CCDC126 | - | - | - | - | 1 | Loss | - |
CCDC129 | p.Q463* | Nonsense | SNP | 0.500 | ND | ND | - |
CCDC13 | - | - | - | - | 1 | Loss | - |
CCDC137 | p.P240L | Missense | SNP | 0.175 | 3 | Gain | - |
CCDC138 | - | - | - | - | 3 | Gain | - |
CCDC140 | - | - | - | - | 1 | Loss | - |
CCDC141 | - | - | - | - | 1 | Loss | - |
CCDC142 | - | - | - | - | 1 | Loss | - |
CCDC148 | - | - | - | - | 1 | Loss | - |
CCDC150 | - | - | - | - | 1 | Loss | - |
CCDC155 | - | - | - | - | 3 | Gain | - |
CCDC158 | p.S998F | Missense | SNP | 0.462 | 2 | - | - |
CCDC159 | p.G103R | Missense | SNP | 0.578 | 2 | - | - |
CCDC166 | - | - | - | - | 3 | Gain | - |
CCDC168 | p.P6008S p.P5923S p.M698K | Missense Missense Missense | SNP SNP SNP | 1.000 0.241 1.000 | 1 | Loss | - |
CCDC169 | - | - | - | - | 1 | Loss | - |
CCDC169-SOHLH2 | - | - | - | - | 1 | Loss | - |
CCDC173 | p.M407I | Missense | SNP | 1.000 | 1 | Loss | - |
CCDC174 | - | - | - | - | 1 | Loss | - |
CCDC178 | - | - | - | - | 1 | Loss | - |
CCDC179 | - | - | - | - | 1 | Loss | - |
CCDC18 | - | - | - | - | 3 | Gain | - |
CCDC180 | p.N853Y | Missense | SNP | 1.000 | 2 | - | - |
CCDC25 | - | - | - | - | 1 | Loss | - |
CCDC3 | - | - | - | - | 1 | Loss | - |
CCDC32 | - | - | - | - | 1 | Loss | - |
CCDC33 | p.D408N | Missense | SNP | 0.491 | 3 | Gain | - |
CCDC34 | - | - | - | - | 1 | Loss | - |
CCDC36 | - | - | - | - | 1 | Loss | - |
CCDC40 | - | - | - | - | 3 | Gain | - |
CCDC47 | - | - | - | - | 3 | Gain | - |
CCDC51 | - | - | - | - | 1 | Loss | - |
CCDC57 | - | - | - | - | 3 | Gain | - |
CCDC66 | - | - | - | - | 1 | Loss | - |
CCDC68 | - | - | - | - | 1 | Loss | - |
CCDC69 | - | - | - | - | 1 | Loss | - |
CCDC7 | - | - | - | - | 1 | Loss | - |
CCDC70 | - | - | - | - | 1 | Loss | - |
CCDC71 | - | - | - | - | 1 | Loss | - |
CCDC73 | - | - | - | - | 1 | Loss | - |
CCDC83 | - | - | - | - | 1 | Loss | - |
CCDC85A | p.E235K | Missense | SNP | 0.402 | 1 | Loss | - |
CCDC88A | - | - | - | - | 1 | Loss | - |
CCDC89 | - | - | - | - | 1 | Loss | - |
CCDC93 | - | - | - | - | 3 | Gain | - |
CCDC9B | - | - | - | - | 1 | Loss | - |
CCK | - | - | - | - | 1 | Loss | - |
CCKBR | - | - | - | - | 1 | Loss | - |
CCL20 | - | - | - | - | 1 | Loss | - |
CCM2 | - | - | - | - | 1 | Loss | - |
CCNA1 | - | - | - | - | 1 | Loss | - |
CCNA2 | - | - | - | - | 1 | Loss | - |
CCNB1 | - | - | - | - | 1 | Loss | - |
CCNB2 | - | - | - | - | 3 | Gain | - |
CCNDBP1 | - | - | - | - | 1 | Loss | - |
CCNF | p.Q216* | Nonsense | SNP | 0.304 | 2 | - | - |
CCNG1 | - | - | - | - | 3 | Gain | - |
CCNH | - | - | - | - | 1 | Loss | - |
CCNI | p.P285S | Missense | SNP | 0.371 | 2 | - | - |
CCNI2 | - | - | - | - | 1 | Loss | - |
CCNJL | - | - | - | - | 3 | Gain | - |
CCNO | - | - | - | - | 1 | Loss | - |
CCNT2 | - | - | - | - | 1 | Loss | - |
CCNY | - | - | - | - | 1 | Loss | - |
CCNYL1 | - | - | - | - | 1 | Loss | - |
CCPG1 | - | - | - | - | 3 | Gain | - |
CCR1 | - | - | - | - | 1 | Loss | - |
CCR2 | - | - | - | - | 1 | Loss | - |
CCR3 | - | - | - | - | 1 | Loss | - |
CCR4 | - | - | - | - | 1 | Loss | - |
CCR5 | - | - | - | - | 1 | Loss | - |
CCR8 | - | - | - | - | 1 | Loss | - |
CCR9 | - | - | - | - | 1 | Loss | - |
CCRL2 | - | - | - | - | 1 | Loss | - |
CCSER1 | - | - | - | - | 1 | Loss | - |
CCT4 | - | - | - | - | 1 | Loss | - |
CCT6A | - | - | - | - | 20 | Amp | - |
CCT7 | - | - | - | - | 1 | Loss | - |
CCT8 | - | - | - | - | 1 | Loss | - |
CCT8L2 | p.M417I | Missense | SNP | 0.409 | 2 | - | - |
CCZ1 | - | - | - | - | 1 | Loss | - |
CCZ1B | - | - | - | - | 1 | Loss | - |
CD101 | - | - | - | - | 3 | Gain | - |
CD14 | - | - | - | - | 1 | Loss | - |
CD151 | - | - | - | - | 1 | Loss | - |
CD163L1 | p.Q158P | Missense | SNP | 1.000 | 2 | - | - |
CD180 | - | - | - | - | 1 | Loss | - |
CD1B | p.P215L | Missense | SNP | 0.327 | 2 | - | - |
CD2 | - | - | - | - | 3 | Gain | - |
CD207 | - | - | - | - | 1 | Loss | - |
CD22 | p.R139M p.P419S | Missense Missense | SNP SNP | 0.418 0.516 | 2 | - | - |
CD226 | - | - | - | - | 1 | Loss | - |
CD276 | - | - | - | - | 3 | Gain | - |
CD28 | p.L8H | Missense | SNP | 1.000 | 1 | Loss | - |
CD300A | - | - | - | - | 3 | Gain | - |
CD300C | - | - | - | - | 3 | Gain | - |
CD300E | - | - | - | - | 3 | Gain | - |
CD300LB | - | - | - | - | 3 | Gain | - |
CD300LD | - | - | - | - | 3 | Gain | - |
CD300LF | - | - | - | - | 3 | Gain | - |
CD300LG | p.P216L | Missense | SNP | 0.485 | 2 | - | - |
CD302 | - | - | - | - | 1 | Loss | - |
CD33 | - | - | - | - | 3 | Gain | - |
CD37 | - | - | - | - | 3 | Gain | - |
CD44 | p.I308V p.L658M | Missense Missense | SNP SNP | 0.450 0.520 | 2 | - | - |
CD5 | p.K404Q | Missense | SNP | 0.473 | 2 | - | - |
CD53 | - | - | - | - | 3 | Gain | - |
CD58 | - | - | - | - | 3 | Gain | - |
CD7 | - | - | - | - | 3 | Gain | - |
CD74 | - | - | - | - | 1 | Loss | - |
CD79B | - | - | - | - | 3 | Gain | - |
CD81 | - | - | - | - | 1 | Loss | - |
CD8A | - | - | - | - | 1 | Loss | - |
CD8B | - | - | - | - | 1 | Loss | - |
CD8B2 | - | - | - | - | 3 | Gain | - |
CD93 | p.D387N | Missense | SNP | 0.479 | 2 | - | - |
CDADC1 | - | - | - | - | 1 | Loss | - |
CDAN1 | - | - | - | - | 1 | Loss | - |
CDC123 | - | - | - | - | 1 | Loss | - |
CDC14A | - | - | - | - | 3 | Gain | - |
CDC14C | - | - | - | - | 1 | Loss | - |
CDC16 | - | - | - | - | 1 | Loss | - |
CDC20B | p.G285E | Missense | SNP | 0.640 | 1 | Loss | - |
CDC23 | - | - | - | - | 1 | Loss | - |
CDC25A | - | - | - | - | 1 | Loss | - |
CDC25C | - | - | - | - | 1 | Loss | - |
CDC42BPA | p.P257L | Missense | SNP | 0.320 | 2 | - | - |
CDC42EP2 | p.P33L | Missense | SNP | 0.452 | 2 | - | - |
CDC42EP3 | - | - | - | - | 1 | Loss | - |
CDC42EP4 | - | - | - | - | 3 | Gain | - |
CDC42EP5 | - | - | - | - | 3 | Gain | - |
CDC42SE2 | - | - | - | - | 1 | Loss | - |
CDC5L | p.G207R | Missense | SNP | 0.400 | 2 | - | - |
CDC7 | - | - | - | - | 3 | Gain | - |
CDC73 | - | - | - | - | 3 | Gain | - |
CDCA2 | - | - | - | - | 1 | Loss | - |
CDCA7 | - | - | - | - | 1 | Loss | - |
CDCA7L | - | - | - | - | 1 | Loss | - |
CDCP1 | p.S225F | Missense | SNP | 1.000 | 1 | Loss | - |
CDH17 | p.S485F | Missense | SNP | 0.594 | 2 | - | - |
CDH18 | p.V729I | Missense | SNP | 0.366 | 2 | - | - |
CDH19 | p.G731R | Missense | SNP | 0.293 | 1 | Loss | - |
CDH2 | p.G279R | Missense | SNP | 0.405 | 2 | - | - |
CDH20 | - | - | - | - | 1 | Loss | - |
CDH22 | p.P28Q | Missense | SNP | 0.554 | 2 | - | - |
CDH23 | p.G369D | Missense | SNP | 0.353 | 2 | - | - |
CDH26 | p.G328S | Missense | SNP | 0.451 | 2 | - | - |
CDH6 | p.P266L | Missense | SNP | 0.463 | 2 | - | - |
CDH7 | - | - | - | - | 1 | Loss | - |
CDH9 | p.L126F | Missense | SNP | 0.519 | 2 | - | - |
CDHR2 | - | - | - | - | 3 | Gain | - |
CDHR4 | - | - | - | - | 1 | Loss | - |
CDHR5 | - | - | - | - | 1 | Loss | - |
CDK13 | p.P343Q | Missense | SNP | 0.657 | 1 | Loss | - |
CDK15 | p.S377F | Missense | SNP | 0.968 | 1 | Loss | - |
CDK18 | p.Y362H | Missense | SNP | 0.452 | 2 | - | - |
CDK3 | - | - | - | - | 3 | Gain | - |
CDK5R2 | - | - | - | - | 1 | Loss | - |
CDK7 | - | - | - | - | 1 | Loss | - |
CDKL3 | - | - | - | - | 1 | Loss | - |
CDKL4 | - | - | - | - | 1 | Loss | - |
CDKN1B | - | - | - | - | 1 | Loss | - |
CDKN1C | - | - | - | - | 1 | Loss | - |
CDKN2AIPNL | - | - | - | - | 1 | Loss | - |
CDNF | - | - | - | - | 1 | Loss | - |
CDO1 | - | - | - | - | 1 | Loss | - |
CDPF1 | - | - | - | - | 1 | Loss | - |
CDR2L | - | - | - | - | 3 | Gain | - |
CDS1 | - | - | - | - | 1 | Loss | - |
CDX1 | - | - | - | - | 1 | Loss | - |
CDX2 | p.E218K | Missense | SNP | 0.250 | 2 | - | - |
CEACAM18 | - | - | - | - | 3 | Gain | - |
CEACAM4 | p.E224K | Missense | SNP | 0.489 | 2 | - | - |
CEBPE | p.P268S | Missense | SNP | 0.469 | 2 | - | - |
CEBPZ | - | - | - | - | 1 | Loss | - |
CEBPZOS | - | - | - | - | 1 | Loss | - |
CECR6 | p.I429F | Missense | SNP | 0.401 | ND | ND | - |
CELF2 | - | - | - | - | 1 | Loss | - |
CELF3 | p.K104Q | Missense | SNP | 0.542 | 2 | - | - |
CELF4 | - | - | - | - | 1 | Loss | - |
CELF6 | - | - | - | - | 3 | Gain | - |
CELSR1 | p.P1952L | Missense | MNP | 0.324 | 2 | - | - |
CELSR2 | - | - | - | - | 3 | Gain | - |
CELSR3 | - | - | - | - | 1 | Loss | - |
CEMIP | p.K1309* | Nonsense | SNP | 0.463 | 3 | Gain | - |
CEND1 | - | - | - | - | 1 | Loss | - |
CENPA | - | - | - | - | 1 | Loss | - |
CENPE | - | - | - | - | 1 | Loss | - |
CENPF | p.P2901F | Missense | MNP | 0.591 | 2 | - | - |
CENPH | - | - | - | - | 1 | Loss | - |
CENPK | - | - | - | - | 1 | Loss | - |
CENPO | - | - | - | - | 1 | Loss | - |
CENPT | p.R439K | Missense | SNP | 0.537 | 2 | - | - |
CENPX | - | - | - | - | 3 | Gain | - |
CEP112 | - | - | - | - | 3 | Gain | - |
CEP120 | - | - | - | - | 1 | Loss | - |
CEP126 | p.S455L p.P932L | Missense Missense | SNP SNP | 0.522 0.379 | 2 | - | - |
CEP131 | - | - | - | - | 3 | Gain | - |
CEP152 | - | - | - | - | 1 | Loss | - |
CEP19 | p.Y84* | Nonsense | SNP | 0.462 | 2 | - | - |
CEP192 | p.S1549F | Missense | SNP | 1.000 | 1 | Loss | - |
CEP295NL | - | - | - | - | 3 | Gain | - |
CEP68 | - | - | - | - | 1 | Loss | - |
CEP76 | - | - | - | - | 1 | Loss | - |
CEP95 | - | - | - | - | 3 | Gain | - |
CEPT1 | - | - | - | - | 3 | Gain | - |
CERKL | - | - | - | - | 1 | Loss | - |
CERS3 | - | - | - | - | 3 | Gain | - |
CERS6 | - | - | - | - | 1 | Loss | - |
CETN1 | - | - | - | - | 1 | Loss | - |
CETN3 | - | - | - | - | 1 | Loss | - |
CFAP161 | - | - | - | - | 3 | Gain | - |
CFAP221 | - | - | - | - | 3 | Gain | - |
CFAP298 | - | - | - | - | 1 | Loss | - |
CFAP299 | - | - | - | - | 1 | Loss | - |
CFAP36 | - | - | - | - | 1 | Loss | - |
CFAP410 | - | - | - | - | 1 | Loss | - |
CFAP43 | p.P354L | Missense | SNP | 0.526 | 2 | - | - |
CFAP46 | - | - | - | - | 3 | Gain | - |
CFAP47 | p.P1737S | Missense | SNP | 0.982 | ND | ND | - |
CFAP53 | - | - | - | - | 1 | Loss | - |
CFAP58 | p.G419E | Missense | SNP | 0.410 | 2 | - | - |
CFAP61 | p.S607F | Missense | SNP | 0.348 | 2 | - | - |
CFAP65 | - | - | - | - | 1 | Loss | - |
CFH | - | - | - | - | 3 | Gain | - |
CFHR1 | - | - | - | - | 3 | Gain | - |
CFHR2 | p.H246Y | Missense | SNP | 0.522 | 3 | Gain | - |
CFHR3 | - | - | - | - | 3 | Gain | - |
CFHR4 | p.P44L | Missense | SNP | 0.587 | 3 | Gain | - |
CFHR5 | p.P90S | Missense | SNP | 0.400 | 3 | Gain | - |
CFI | - | - | - | - | 1 | Loss | - |
CFLAR | - | - | - | - | 1 | Loss | - |
CGB3 | - | - | - | - | 3 | Gain | - |
CGB5 | - | - | - | - | 3 | Gain | - |
CGB7 | - | - | - | - | 3 | Gain | - |
CGB8 | - | - | - | - | 3 | Gain | - |
CGGBP1 | - | - | - | - | 1 | Loss | - |
CGNL1 | - | - | - | - | 3 | Gain | - |
CGREF1 | - | - | - | - | 1 | Loss | - |
CHAC1 | - | - | - | - | 1 | Loss | - |
CHAC2 | - | - | - | - | 1 | Loss | - |
CHAF1B | - | - | - | - | 1 | Loss | - |
CHAMP1 | - | - | - | - | 1 | Loss | - |
CHCHD2 | - | - | - | - | 20 | Amp | - |
CHCHD4 | - | - | - | - | 1 | Loss | - |
CHCHD5 | - | - | - | - | 3 | Gain | - |
CHD1 | - | - | - | - | 1 | Loss | - |
CHD2 | - | - | - | - | 3 | Gain | - |
CHD4 | p.P412L | Missense | SNP | 1.000 | 2 | - | - |
CHD7 | p.P2677F | Missense | MNP | 0.523 | 2 | - | - |
CHDH | - | - | - | - | 1 | Loss | - |
CHGA | p.G261D | Missense | SNP | 0.504 | 2 | - | - |
CHGB | p.E151K | Missense | SNP | 0.415 | 2 | - | - |
CHI3L2 | - | - | - | - | 3 | Gain | - |
CHIA | - | - | - | - | 3 | Gain | - |
CHID1 | - | - | - | - | 1 | Loss | - |
CHL1 | - | - | - | - | 1 | Loss | - |
CHMP1B | - | - | - | - | 1 | Loss | - |
CHMP2A | - | - | - | - | 3 | Gain | - |
CHMP2B | - | - | - | - | 1 | Loss | - |
CHMP3 | - | - | - | - | 1 | Loss | - |
CHMP6 | - | - | - | - | 3 | Gain | - |
CHMP7 | - | - | - | - | 1 | Loss | - |
CHN1 | - | - | - | - | 1 | Loss | - |
CHN2 | - | - | - | - | 1 | Loss | - |
CHP1 | - | - | - | - | 1 | Loss | - |
CHPF | - | - | - | - | 1 | Loss | - |
CHRAC1 | - | - | - | - | 3 | Gain | - |
CHRNA1 | - | - | - | - | 1 | Loss | - |
CHRNA10 | - | - | - | - | 1 | Loss | - |
CHRNA2 | - | - | - | - | 1 | Loss | - |
CHRNA3 | - | - | - | - | 3 | Gain | - |
CHRNA5 | - | - | - | - | 3 | Gain | - |
CHRNA7 | p.S318L | Missense | SNP | 0.436 | 2 | - | - |
CHRNA9 | - | - | - | - | 1 | Loss | - |
CHRNB4 | - | - | - | - | 3 | Gain | - |
CHRND | - | - | - | - | 1 | Loss | - |
CHRNG | - | - | - | - | 1 | Loss | - |
CHST10 | - | - | - | - | 3 | Gain | - |
CHST12 | - | - | - | - | 1 | Loss | - |
CHST14 | - | - | - | - | 1 | Loss | - |
CHSY1 | - | - | - | - | 3 | Gain | - |
CHSY3 | - | - | - | - | 1 | Loss | - |
CIAO1 | - | - | - | - | 3 | Gain | - |
CIAO2A | - | - | - | - | 3 | Gain | - |
CIB1 | - | - | - | - | 3 | Gain | - |
CIB2 | - | - | - | - | 3 | Gain | - |
CIB4 | - | - | - | - | 1 | Loss | - |
CIDEA | - | - | - | - | 1 | Loss | - |
CIDEC | - | - | - | - | 1 | Loss | - |
CILP | - | - | - | - | 3 | Gain | - |
CILP2 | p.N308I p.S644F | Missense Missense | SNP SNP | 0.461 0.571 | 2 | - | - |
CIR1 | - | - | - | - | 1 | Loss | - |
CISD2 | - | - | - | - | 1 | Loss | - |
CISH | - | - | - | - | 1 | Loss | - |
CKAP2 | - | - | - | - | 1 | Loss | - |
CKAP2L | - | - | - | - | 3 | Gain | - |
CKAP4 | p.T245I | Missense | SNP | 0.417 | 2 | - | - |
CKMT1A | - | - | - | - | 1 | Loss | - |
CKMT1B | - | - | - | - | 1 | Loss | - |
CKMT2 | - | - | - | - | 1 | Loss | - |
CLASP1 | - | - | - | - | 3 | Gain | - |
CLASP2 | - | - | - | - | 1 | Loss | - |
CLCA2 | p.V921A | Missense | SNP | 0.389 | 2 | - | - |
CLCC1 | - | - | - | - | 3 | Gain | - |
CLCNKB | p.W96* | Nonsense | SNP | 0.795 | 2 | - | - |
CLDN10 | - | - | - | - | 1 | Loss | - |
CLDN14 | - | - | - | - | 1 | Loss | - |
CLDN17 | - | - | - | - | 1 | Loss | - |
CLDN23 | - | - | - | - | 1 | Loss | - |
CLDN25 | p.E42K | Missense | SNP | 0.400 | 2 | - | - |
CLDN8 | - | - | - | - | 1 | Loss | - |
CLDND2 | - | - | - | - | 3 | Gain | - |
CLEC11A | - | - | - | - | 3 | Gain | - |
CLEC12B | p.S93F p.X137_splice | Missense Splice_Site | SNP SNP | 0.983 0.576 | 2 | - | - |
CLEC18C | p.W127* | Nonsense | SNP | 0.222 | 2 | - | - |
CLEC3B | - | - | - | - | 1 | Loss | - |
CLEC4F | - | - | - | - | 1 | Loss | - |
CLEC4G | p.L44F | Missense | SNP | 0.488 | 2 | - | - |
CLGN | p.G517E | Missense | SNP | 0.556 | 2 | - | - |
CLHC1 | - | - | - | - | 1 | Loss | - |
CLIC5 | p.E318K p.G104S | Missense Missense | SNP SNP | 0.358 0.667 | 2 | - | - |
CLIC6 | - | - | - | - | 1 | Loss | - |
CLINT1 | - | - | - | - | 3 | Gain | - |
CLIP1 | p.G938R | Missense | SNP | 0.457 | 2 | - | - |
CLIP4 | - | - | - | - | 1 | Loss | - |
CLK1 | - | - | - | - | 1 | Loss | - |
CLK3 | - | - | - | - | 3 | Gain | - |
CLK4 | - | - | - | - | 3 | Gain | - |
CLN5 | - | - | - | - | 1 | Loss | - |
CLN6 | - | - | - | - | 3 | Gain | - |
CLN8 | - | - | - | - | 1 | Loss | - |
CLPX | - | - | - | - | 3 | Gain | - |
CLRN1 | p.D55N | Missense | SNP | 0.388 | 2 | - | - |
CLRN2 | p.S20F | Missense | SNP | 0.786 | 2 | - | - |
CLRN3 | - | - | - | - | 3 | Gain | - |
CLSTN1 | p.H423Y | Missense | SNP | 0.533 | 2 | - | - |
CLTB | - | - | - | - | 3 | Gain | - |
CLTC | - | - | - | - | 2 | - | CLTC--VMP1 |
CLU | - | - | - | - | 1 | Loss | - |
CLUH | p.E607K | Missense | SNP | 0.459 | 2 | - | - |
CLUL1 | - | - | - | - | 1 | Loss | - |
CLYBL | - | - | - | - | 1 | Loss | - |
CMAS | - | - | - | - | 1 | Loss | - |
CMC1 | - | - | - | - | 1 | Loss | - |
CMIP | p.A544V | Missense | SNP | 0.458 | 2 | - | - |
CMPK2 | - | - | - | - | 1 | Loss | - |
CMTM6 | - | - | - | - | 1 | Loss | - |
CMTM7 | - | - | - | - | 1 | Loss | - |
CMTM8 | - | - | - | - | 1 | Loss | - |
CMYA5 | p.G740E | Missense | SNP | 0.689 | 1 | Loss | - |
CNBD2 | p.R198K | Missense | SNP | 0.706 | 2 | - | - |
CNDP1 | - | - | - | - | 1 | Loss | - |
CNDP2 | - | - | - | - | 1 | Loss | - |
CNGA1 | p.D609N | Missense | SNP | 0.648 | 1 | Loss | - |
CNGA3 | - | - | - | - | 3 | Gain | - |
CNGA4 | - | - | - | - | 1 | Loss | - |
CNMD | - | - | - | - | 1 | Loss | - |
CNN3 | - | - | - | - | 3 | Gain | - |
CNNM1 | p.G437R | Missense | SNP | 0.644 | 2 | - | - |
CNNM3 | - | - | - | - | 3 | Gain | - |
CNNM4 | - | - | - | - | 3 | Gain | - |
CNOT10 | - | - | - | - | 1 | Loss | - |
CNOT11 | - | - | - | - | 3 | Gain | - |
CNOT3 | - | - | - | - | 3 | Gain | - |
CNOT6 | - | - | - | - | 3 | Gain | - |
CNOT7 | - | - | - | - | 1 | Loss | - |
CNOT8 | - | - | - | - | 1 | Loss | - |
CNOT9 | - | - | - | - | 1 | Loss | - |
CNP | - | - | - | - | 1 | Loss | - |
CNPPD1 | - | - | - | - | 1 | Loss | - |
CNRIP1 | - | - | - | - | 1 | Loss | - |
CNTD1 | p.X97_splice | Splice_Site | SNP | 0.491 | 2 | - | - |
CNTN3 | p.S632F | Missense | SNP | 1.000 | 1 | Loss | - |
CNTN4 | - | - | - | - | 1 | Loss | - |
CNTN6 | - | - | - | - | 1 | Loss | - |
CNTNAP2 | p.S1042F | Missense | SNP | 0.445 | 2 | - | - |
CNTNAP3C | - | - | - | - | 3 | Gain | - |
CNTNAP5 | p.E1281V | Missense | SNP | 0.609 | 3 | Gain | - |
COA1 | - | - | - | - | 1 | Loss | - |
COA5 | - | - | - | - | 3 | Gain | - |
COBL | - | - | - | - | 1 | Loss | - |
COBLL1 | - | - | - | - | 1 | Loss | - |
COCH | p.P505T | Missense | SNP | 0.446 | 2 | - | - |
COG1 | p.R38W | Missense | SNP | 0.403 | 3 | Gain | - |
COG3 | - | - | - | - | 1 | Loss | - |
COG6 | - | - | - | - | 1 | Loss | - |
COL10A1 | p.K333R | Missense | SNP | 0.314 | 2 | - | - |
COL11A1 | p.G1237E | Missense | SNP | 0.341 | 3 | Gain | - |
COL14A1 | p.G1518R p.G1581E | Missense Missense | SNP SNP | 0.469 0.569 | 2 | - | - |
COL16A1 | p.P1595S | Missense | SNP | 0.609 | 2 | - | - |
COL18A1 | - | - | - | - | 1 | Loss | - |
COL1A1 | p.P1140F | Missense | MNP | 0.639 | 2 | - | - |
COL1A2 | p.T339I p.G457E | Missense Missense | SNP SNP | 0.583 0.559 | 2 | - | - |
COL21A1 | p.G701E | Missense | SNP | 0.491 | 2 | - | - |
COL22A1 | p.P1593S | Missense | SNP | 0.267 | 3 | Gain | - |
COL23A1 | - | - | - | - | 3 | Gain | - |
COL25A1 | - | - | - | - | 1 | Loss | - |
COL28A1 | p.P625S p.P330S p.P169S | Missense Missense Missense | SNP SNP SNP | 0.619 0.731 0.800 | 1 | Loss | - |
COL3A1 | p.G735E | Missense | SNP | 0.977 | 1 | Loss | - |
COL4A1 | - | - | - | - | 1 | Loss | - |
COL4A2 | p.G1058E p.E1524K p.R1651C | Missense Missense Missense | SNP SNP SNP | 0.568 0.500 0.543 | 1 | Loss | - |
COL4A3 | - | - | - | - | 1 | Loss | - |
COL4A3BP | - | - | - | - | 1 | Loss | - |
COL4A4 | - | - | - | - | 1 | Loss | - |
COL5A1 | p.P968F | Missense | MNP | 1.000 | 2 | - | - |
COL5A2 | p.P1177S | Missense | SNP | 1.000 | 1 | Loss | - |
COL6A1 | - | - | - | - | 1 | Loss | - |
COL6A2 | - | - | - | - | 1 | Loss | - |
COL6A3 | - | - | - | - | 1 | Loss | - |
COL6A5 | p.E1974K p.E2262K | Missense Missense | SNP SNP | 0.492 0.414 | 2 | - | - |
COL6A6 | p.A960T | Missense | SNP | 0.457 | 2 | - | - |
COL7A1 | - | - | - | - | 1 | Loss | - |
COL8A1 | p.G501E | Missense | SNP | 0.447 | 2 | - | - |
COL9A3 | p.P339L | Missense | SNP | 0.430 | 2 | - | - |
COLEC11 | - | - | - | - | 1 | Loss | - |
COLEC12 | - | - | - | - | 1 | Loss | - |
COLGALT2 | - | - | - | - | 3 | Gain | - |
COLQ | - | - | - | - | 1 | Loss | - |
COMMD1 | p.E7K | Missense | SNP | 0.214 | 1 | Loss | - |
COMMD10 | - | - | - | - | 1 | Loss | - |
COMMD3 | - | - | - | - | 1 | Loss | - |
COMMD3-BMI1 | - | - | - | - | 1 | Loss | - |
COMMD4 | - | - | - | - | 3 | Gain | - |
COMMD5 | p.D139N | Missense | SNP | 0.604 | 3 | Gain | - |
COMMD6 | - | - | - | - | 1 | Loss | - |
COMMD8 | - | - | - | - | 1 | Loss | - |
COPB1 | - | - | - | - | 1 | Loss | - |
COPG1 | p.K432N | Missense | SNP | 0.608 | 2 | - | - |
COPS2 | - | - | - | - | 1 | Loss | - |
COPS4 | - | - | - | - | 1 | Loss | - |
COPS7B | - | - | - | - | 1 | Loss | - |
COPS8 | - | - | - | - | 1 | Loss | - |
COPS9 | - | - | - | - | 1 | Loss | - |
COQ10B | - | - | - | - | 1 | Loss | - |
COQ2 | - | - | - | - | 1 | Loss | - |
CORIN | p.P128S | Missense | SNP | 0.308 | 1 | Loss | - |
CORO2B | - | - | - | - | 3 | Gain | - |
COX19 | - | - | - | - | 1 | Loss | - |
COX5A | - | - | - | - | 3 | Gain | - |
COX5B | - | - | - | - | 3 | Gain | - |
COX6B2 | - | - | - | - | 3 | Gain | - |
COX7A2L | - | - | - | - | 1 | Loss | - |
COX7B2 | - | - | - | - | 1 | Loss | - |
CPB2 | - | - | - | - | 1 | Loss | - |
CPEB1 | - | - | - | - | 3 | Gain | - |
CPEB4 | - | - | - | - | 3 | Gain | - |
CPLX2 | - | - | - | - | 3 | Gain | - |
CPLX3 | - | - | - | - | 3 | Gain | - |
CPLX4 | - | - | - | - | 1 | Loss | - |
CPNE9 | - | - | - | - | 1 | Loss | - |
CPO | - | - | - | - | 1 | Loss | - |
CPS1 | - | - | - | - | 1 | Loss | - |
CPSF1 | p.A729V | Missense | SNP | 0.579 | 3 | Gain | - |
CPSF3 | - | - | - | - | 1 | Loss | - |
CPSF4L | - | - | - | - | 3 | Gain | - |
CPSF6 | p.D580_R583del p.P325S | In_Frame_Del Missense | DEL SNP | 0.252 0.591 | 2 | - | - |
CPT1C | p.R340Q | Missense | SNP | 0.245 | 3 | Gain | - |
CPVL | - | - | - | - | 1 | Loss | - |
CR1 | p.P1515L p.X1904_splice;p.R1904Q | Missense Splice_Site | SNP MNP | 0.655 0.349 | 2 | - | - |
CRABP1 | - | - | - | - | 3 | Gain | - |
CRACR2B | - | - | - | - | 1 | Loss | - |
CRB1 | - | - | - | - | 3 | Gain | - |
CRB2 | p.S807F | Missense | SNP | 0.988 | 2 | - | - |
CRBN | - | - | - | - | 1 | Loss | - |
CREB1 | - | - | - | - | 1 | Loss | - |
CREB3L1 | p.S107N | Missense | SNP | 0.406 | 2 | - | - |
CREB5 | - | - | - | - | 1 | Loss | - |
CREBBP | - | - | - | - | 1 | Loss | - |
CREBL2 | - | - | - | - | 1 | Loss | - |
CREBRF | - | - | - | - | 3 | Gain | - |
CREBZF | - | - | - | - | 1 | Loss | - |
CREG2 | - | - | - | - | 3 | Gain | - |
CRELD1 | - | - | - | - | 1 | Loss | - |
CREM | - | - | - | - | 1 | Loss | - |
CRHBP | - | - | - | - | 1 | Loss | - |
CRHR2 | - | - | - | - | 21 | Amp | - |
CRIM1 | - | - | - | - | 1 | Loss | - |
CRIPT | - | - | - | - | 1 | Loss | - |
CRNKL1 | p.X677_splice | Splice_Site | SNP | 0.296 | 2 | - | - |
CROCC2 | - | - | - | - | 1 | Loss | - |
CRTAC1 | p.G455R | Missense | SNP | 0.508 | 2 | - | - |
CRTAP | - | - | - | - | 1 | Loss | - |
CRTC1 | p.P273L | Missense | SNP | 0.355 | 2 | - | - |
CRTC3 | - | - | - | - | 3 | Gain | - |
CRYAA | - | - | - | - | 1 | Loss | - |
CRYAA2 | - | - | - | - | 1 | Loss | - |
CRYBA2 | - | - | - | - | 1 | Loss | - |
CRYGA | - | - | - | - | 1 | Loss | - |
CRYGB | - | - | - | - | 1 | Loss | - |
CRYGC | - | - | - | - | 1 | Loss | - |
CRYGD | - | - | - | - | 1 | Loss | - |
CRYZL1 | - | - | - | - | 1 | Loss | - |
CSDE1 | - | - | - | - | 3 | Gain | - |
CSF1 | - | - | - | - | 3 | Gain | - |
CSF1R | - | - | - | - | 1 | Loss | - |
CSF2 | - | - | - | - | 1 | Loss | - |
CSGALNACT1 | - | - | - | - | 1 | Loss | - |
CSH1 | - | - | - | - | 3 | Gain | - |
CSH2 | - | - | - | - | 3 | Gain | - |
CSHL1 | - | - | - | - | 3 | Gain | - |
CSK | - | - | - | - | 3 | Gain | - |
CSMD1 | - | - | - | - | 1 | Loss | - |
CSMD3 | p.D2621N p.D2516A p.F1798L p.E610K | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.463 0.458 0.418 0.528 | 2 | - | - |
CSNK1A1 | - | - | - | - | 1 | Loss | - |
CSNK1A1L | - | - | - | - | 1 | Loss | - |
CSNK1D | - | - | - | - | 3 | Gain | - |
CSNK1G1 | - | - | - | - | 3 | Gain | - |
CSNK1G3 | - | - | - | - | 1 | Loss | - |
CSNK2A3 | - | - | - | - | 1 | Loss | - |
CSPG4 | p.G894S | Missense | SNP | 0.464 | 3 | Gain | - |
CSPG5 | - | - | - | - | 1 | Loss | - |
CSRNP1 | - | - | - | - | 1 | Loss | - |
CSRNP3 | - | - | - | - | 1 | Loss | - |
CSRP3 | - | - | - | - | 1 | Loss | - |
CSTB | - | - | - | - | 1 | Loss | - |
CSTF3 | - | - | - | - | 1 | Loss | - |
CT62 | - | - | - | - | 3 | Gain | - |
CTAGE1 | p.R142K | Missense | SNP | 0.299 | 2 | - | - |
CTB-50L17.10 | p.S234F | Missense | SNP | 0.500 | ND | ND | - |
CTDP1 | - | - | - | - | 1 | Loss | - |
CTDSP1 | - | - | - | - | 1 | Loss | - |
CTDSPL | - | - | - | - | 1 | Loss | - |
CTDSPL2 | - | - | - | - | 1 | Loss | - |
CTIF | - | - | - | - | 1 | Loss | - |
CTLA4 | - | - | - | - | 1 | Loss | - |
CTNNA1 | - | - | - | - | 1 | Loss | - |
CTNNA2 | - | - | - | - | 1 | Loss | - |
CTNNB1 | - | - | - | - | 1 | Loss | - |
CTR9 | - | - | - | - | 1 | Loss | - |
CTSB | - | - | - | - | 1 | Loss | - |
CTSD | - | - | - | - | 1 | Loss | - |
CTSH | - | - | - | - | 3 | Gain | - |
CTTNBP2NL | p.P405L | Missense | SNP | 0.342 | 3 | Gain | - |
CTU1 | - | - | - | - | 3 | Gain | - |
CTXN2 | - | - | - | - | 1 | Loss | - |
CTXN3 | - | - | - | - | 1 | Loss | - |
CUBN | - | - | - | - | 1 | Loss | - |
CUEDC1 | p.P59L | Missense | SNP | 0.459 | 2 | - | - |
CUL1 | p.L268R | Missense | SNP | 0.338 | 2 | - | - |
CUL2 | - | - | - | - | 1 | Loss | - |
CUL3 | - | - | - | - | 1 | Loss | - |
CUL4A | - | - | - | - | 1 | Loss | - |
CUL9 | p.S235F p.P1231L | Missense Missense | SNP MNP | 0.500 0.459 | 2 | - | - |
CUX2 | p.P523S | Missense | SNP | 0.593 | 2 | - | - |
CWC22 | - | - | - | - | 1 | Loss | - |
CWC27 | - | - | - | - | 1 | Loss | - |
CWH43 | - | - | - | - | 1 | Loss | - |
CX3CR1 | - | - | - | - | 1 | Loss | - |
CXCL14 | - | - | - | - | 1 | Loss | - |
CXCR1 | p.I125M | Missense | SNP | 1.000 | 1 | Loss | - |
CXCR2 | - | - | - | - | 1 | Loss | - |
CXCR4 | - | - | - | - | 1 | Loss | - |
CXCR6 | - | - | - | - | 1 | Loss | - |
CXXC1 | - | - | - | - | 1 | Loss | - |
CXXC4 | - | - | - | - | 1 | Loss | - |
CXXC5 | - | - | - | - | 1 | Loss | - |
CYB561 | - | - | - | - | 3 | Gain | - |
CYB561D1 | - | - | - | - | 3 | Gain | - |
CYB561D2 | - | - | - | - | 1 | Loss | - |
CYB5A | - | - | - | - | 1 | Loss | - |
CYB5R2 | - | - | - | - | 1 | Loss | - |
CYBC1 | - | - | - | - | 3 | Gain | - |
CYBRD1 | - | - | - | - | 1 | Loss | - |
CYC1 | - | - | - | - | 3 | Gain | - |
CYCS | - | - | - | - | 1 | Loss | - |
CYFIP2 | - | - | - | - | 1 | Loss | - |
CYGB | - | - | - | - | 3 | Gain | - |
CYHR1 | - | - | - | - | 3 | Gain | - |
CYLD | - | - | - | - | 1 | Loss | - |
CYP11A1 | - | - | - | - | 3 | Gain | - |
CYP11B1 | - | - | - | - | 3 | Gain | - |
CYP11B2 | - | - | - | - | 3 | Gain | - |
CYP19A1 | - | - | - | - | 1 | Loss | - |
CYP1A1 | - | - | - | - | 3 | Gain | - |
CYP1A2 | - | - | - | - | 3 | Gain | - |
CYP1B1 | - | - | - | - | 1 | Loss | - |
CYP20A1 | - | - | - | - | 1 | Loss | - |
CYP26B1 | - | - | - | - | 1 | Loss | - |
CYP27A1 | - | - | - | - | 1 | Loss | - |
CYP27C1 | - | - | - | - | 3 | Gain | - |
CYP2E1 | - | - | - | - | 3 | Gain | - |
CYP2R1 | - | - | - | - | 1 | Loss | - |
CYP2U1 | - | - | - | - | 1 | Loss | - |
CYP2W1 | - | - | - | - | 1 | Loss | - |
CYP4B1 | p.D148N | Missense | SNP | 0.516 | 2 | - | - |
CYP4F2 | p.S399F | Missense | SNP | 0.498 | 2 | - | - |
CYP4F22 | p.E328K | Missense | SNP | 0.473 | 2 | - | - |
CYP7B1 | p.F12L | Missense | SNP | 0.410 | 2 | - | - |
CYP8B1 | - | - | - | - | 1 | Loss | - |
CYS1 | - | - | - | - | 1 | Loss | - |
CYSLTR2 | - | - | - | - | 1 | Loss | - |
CYSTM1 | - | - | - | - | 1 | Loss | - |
CYTH1 | - | - | - | - | 3 | Gain | - |
CYTH2 | - | - | - | - | 3 | Gain | - |
CYTH3 | - | - | - | - | 1 | Loss | - |
CYTH4 | p.S20F | Missense | SNP | 0.446 | 2 | - | - |
CYTIP | - | - | - | - | 1 | Loss | - |
CYYR1 | - | - | - | - | 1 | Loss | - |
D2HGDH | - | - | - | - | 1 | Loss | - |
DACH1 | - | - | - | - | 1 | Loss | - |
DACT2 | p.P550S | Missense | SNP | 0.457 | 2 | - | - |
DAG1 | - | - | - | - | 1 | Loss | - |
DAGLB | - | - | - | - | 1 | Loss | - |
DALRD3 | - | - | - | - | 1 | Loss | - |
DAOA | - | - | - | - | 1 | Loss | - |
DAPK2 | - | - | - | - | 3 | Gain | - |
DAPK3 | p.I209F | Missense | SNP | 0.644 | 2 | - | - |
DAPL1 | - | - | - | - | 1 | Loss | - |
DAPP1 | - | - | - | - | 1 | Loss | - |
DARS | - | - | - | - | 1 | Loss | - |
DAW1 | - | - | - | - | 1 | Loss | - |
DAZAP1 | p.P121L | Missense | SNP | 0.333 | 2 | - | - |
DAZL | - | - | - | - | 1 | Loss | - |
DBI | - | - | - | - | 3 | Gain | - |
DBN1 | - | - | - | - | 3 | Gain | - |
DBNL | - | - | - | - | 1 | Loss | - |
DBP | - | - | - | - | 3 | Gain | - |
DBT | - | - | - | - | 3 | Gain | - |
DBX1 | - | - | - | - | 1 | Loss | - |
DCAF1 | - | - | - | - | 1 | Loss | - |
DCAF11 | p.S149F | Missense | SNP | 0.509 | 2 | - | - |
DCAF12L2 | p.D392N | Missense | SNP | 1.000 | ND | ND | - |
DCAF17 | - | - | - | - | 1 | Loss | - |
DCAF4L1 | - | - | - | - | 1 | Loss | - |
DCAF6 | p.P246L | Missense | SNP | 0.352 | 2 | - | - |
DCAF7 | - | - | - | - | 3 | Gain | - |
DCANP1 | p.S224F | Missense | SNP | 0.320 | 1 | Loss | - |
DCBLD2 | - | - | - | - | 2 | - | DCBLD2--POLA1 |
DCC | p.F32L p.Q203* | Missense Nonsense | SNP SNP | 0.615 0.674 | 1 | Loss | - |
DCDC1 | - | - | - | - | 1 | Loss | - |
DCDC2 | p.E380K p.M369I | Missense Missense | SNP SNP | 0.312 0.291 | 2 | - | - |
DCDC2C | - | - | - | - | 1 | Loss | - |
DCHS1 | - | - | - | - | 1 | Loss | - |
DCHS2 | p.T2396K p.N68S | Missense Missense | SNP SNP | 0.594 0.594 | 2 | - | - |
DCLK1 | - | - | - | - | 1 | Loss | - |
DCLK2 | p.M471T | Missense | SNP | 0.570 | 2 | - | - |
DCLK3 | - | - | - | - | 1 | Loss | - |
DCLRE1B | - | - | - | - | 3 | Gain | - |
DCLRE1C | - | - | - | - | 1 | Loss | - |
DCP1A | - | - | - | - | 1 | Loss | - |
DCP2 | - | - | - | - | 1 | Loss | - |
DCT | - | - | - | - | 1 | Loss | - |
DCTN1 | - | - | - | - | 1 | Loss | - |
DCTN4 | p.P59L | Missense | SNP | 0.765 | 1 | Loss | - |
DCTN6 | - | - | - | - | 1 | Loss | - |
DCUN1D2 | - | - | - | - | 1 | Loss | - |
DCXR | - | - | - | - | 3 | Gain | - |
DDB1 | p.S781F p.Q432* | Missense Nonsense | SNP SNP | 0.457 0.453 | 2 | - | - |
DDC | - | - | - | - | 1 | Loss | - |
DDIT4L | - | - | - | - | 1 | Loss | - |
DDX1 | - | - | - | - | 1 | Loss | - |
DDX18 | - | - | - | - | 3 | Gain | - |
DDX20 | - | - | - | - | 3 | Gain | - |
DDX27 | p.H494Y | Missense | SNP | 0.465 | 2 | - | - |
DDX4 | - | - | - | - | 1 | Loss | - |
DDX41 | - | - | - | - | 3 | Gain | - |
DDX42 | - | - | - | - | 3 | Gain | - |
DDX46 | - | - | - | - | 1 | Loss | - |
DDX47 | - | - | - | - | 1 | Loss | - |
DDX5 | - | - | - | - | 3 | Gain | - |
DDX56 | p.P391S | Missense | SNP | 0.610 | 1 | Loss | - |
DDX59 | - | - | - | - | 3 | Gain | - |
DDX60 | p.R737W | Missense | SNP | 0.535 | 2 | - | - |
DEAF1 | - | - | - | - | 1 | Loss | - |
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 | - |
DEFB134 | - | - | - | - | 1 | Loss | - |
DEFB135 | - | - | - | - | 1 | Loss | - |
DEFB136 | - | - | - | - | 1 | Loss | - |
DEFB4A | - | - | - | - | 1 | Loss | - |
DEFB4B | - | - | - | - | 1 | Loss | - |
DELE1 | - | - | - | - | 1 | Loss | - |
DENND1B | - | - | - | - | 3 | Gain | - |
DENND2C | - | - | - | - | 3 | Gain | - |
DENND2D | - | - | - | - | 3 | Gain | - |
DENND3 | - | - | - | - | 3 | Gain | - |
DENND4A | - | - | - | - | 3 | Gain | - |
DENND4B | p.P135A | Missense | SNP | 0.531 | 2 | - | - |
DENND5A | - | - | - | - | 1 | Loss | - |
DENND6A | - | - | - | - | 1 | Loss | - |
DEPDC1B | p.P321L | Missense | SNP | 0.360 | 1 | Loss | - |
DEPDC7 | - | - | - | - | 1 | Loss | - |
DERA | - | - | - | - | 1 | Loss | - |
DES | - | - | - | - | 1 | Loss | - |
DET1 | - | - | - | - | 3 | Gain | - |
DGAT1 | - | - | - | - | 3 | Gain | - |
DGKB | p.G49E | Missense | SNP | 0.412 | 1 | Loss | - |
DGKD | - | - | - | - | 1 | Loss | - |
DGKH | - | - | - | - | 1 | Loss | - |
DGUOK | - | - | - | - | 1 | Loss | - |
DHDH | - | - | - | - | 3 | Gain | - |
DHFR | - | - | - | - | 1 | Loss | - |
DHRS12 | - | - | - | - | 1 | Loss | - |
DHRS9 | - | - | - | - | 1 | Loss | - |
DHTKD1 | - | - | - | - | 1 | Loss | - |
DHX29 | - | - | - | - | 1 | Loss | - |
DHX30 | p.G933S | Missense | SNP | 0.971 | 1 | Loss | - |
DHX57 | - | - | - | - | 1 | Loss | - |
DIAPH1 | - | - | - | - | 1 | Loss | - |
DIAPH3 | - | - | - | - | 1 | Loss | - |
DIMT1 | - | - | - | - | 1 | Loss | - |
DIP2A | - | - | - | - | 1 | Loss | - |
DIP2C | - | - | - | - | 1 | Loss | - |
DIRC1 | - | - | - | - | 1 | Loss | - |
DIS3 | - | - | - | - | 1 | Loss | - |
DIS3L | p.L420R | Missense | SNP | 0.468 | 3 | Gain | - |
DIS3L2 | - | - | - | - | 1 | Loss | - |
DISP2 | - | - | - | - | 1 | Loss | - |
DISP3 | p.G997E | Missense | SNP | 0.379 | 2 | - | - |
DKK2 | - | - | - | - | 1 | Loss | - |
DKK3 | - | - | - | - | 1 | Loss | - |
DKK4 | p.T45K | Missense | SNP | 0.554 | 2 | - | - |
DKKL1 | - | - | - | - | 3 | Gain | - |
DLC1 | p.P727L | Missense | SNP | 0.960 | 1 | Loss | - |
DLEC1 | p.D1643N | Missense | SNP | 1.000 | 1 | Loss | - |
DLEU7 | - | - | - | - | 1 | Loss | - |
DLGAP1 | p.Q742E | Missense | SNP | 1.000 | 1 | Loss | - |
DLGAP2 | - | - | - | - | 1 | Loss | - |
DLGAP4 | p.S145L | Missense | SNP | 0.421 | 2 | - | - |
DLL4 | - | - | - | - | 1 | Loss | - |
DLX1 | - | - | - | - | 1 | Loss | - |
DLX2 | - | - | - | - | 1 | Loss | - |
DMBT1 | p.S2117N | Missense | SNP | 0.596 | 2 | - | - |
DMGDH | - | - | - | - | 1 | Loss | - |
DMP1 | - | - | - | - | 1 | Loss | - |
DMRTC2 | p.P107S | Missense | SNP | 0.468 | 2 | - | - |
DMTN | - | - | - | - | 1 | Loss | - |
DMXL1 | - | - | - | - | 1 | Loss | - |
DMXL2 | - | - | - | - | 1 | Loss | - |
DNAAF3 | - | - | - | - | 3 | Gain | - |
DNAAF4 | - | - | - | - | 3 | Gain | - |
DNAAF5 | - | - | - | - | 1 | Loss | - |
DNAH1 | - | - | - | - | 1 | Loss | - |
DNAH10 | p.D824N | Missense | SNP | 0.483 | 2 | - | - |
DNAH11 | p.R260K p.C369G | Missense Missense | SNP SNP | 0.294 0.697 | 1 | Loss | - |
DNAH12 | - | - | - | - | 1 | Loss | - |
DNAH14 | p.S86F p.K373* | Missense Nonsense | SNP SNP | 0.433 0.351 | 2 | - | - |
DNAH17 | - | - | - | - | 3 | Gain | - |
DNAH5 | p.R2392K | Missense | SNP | 0.492 | 2 | - | - |
DNAH6 | - | - | - | - | 1 | Loss | - |
DNAH7 | p.M2982L | Missense | SNP | 1.000 | 1 | Loss | - |
DNAH8 | p.W789* | Nonsense | SNP | 0.421 | 2 | - | - |
DNAH9 | p.L526* | Nonsense | SNP | 0.471 | 2 | - | - |
DNAI1 | p.M290I;p.E291K | Missense | MNP | 1.000 | 2 | - | - |
DNAI2 | - | - | - | - | 3 | Gain | - |
DNAJA4 | - | - | - | - | 3 | Gain | - |
DNAJB14 | - | - | - | - | 1 | Loss | - |
DNAJB2 | - | - | - | - | 1 | Loss | - |
DNAJC1 | - | - | - | - | 1 | Loss | - |
DNAJC10 | - | - | - | - | 1 | Loss | - |
DNAJC15 | - | - | - | - | 1 | Loss | - |
DNAJC17 | - | - | - | - | 1 | Loss | - |
DNAJC18 | - | - | - | - | 1 | Loss | - |
DNAJC24 | - | - | - | - | 1 | Loss | - |
DNAJC27 | - | - | - | - | 1 | Loss | - |
DNAJC28 | - | - | - | - | 1 | Loss | - |
DNAJC3 | - | - | - | - | 1 | Loss | - |
DNAJC5 | - | - | - | - | 3 | Gain | - |
DNAJC5G | - | - | - | - | 1 | Loss | - |
DNAJC7 | - | - | - | - | 1 | Loss | - |
DNASE1L3 | - | - | - | - | 1 | Loss | - |
DND1 | - | - | - | - | 1 | Loss | - |
DNER | - | - | - | - | 1 | Loss | - |
DNHD1 | - | - | - | - | 1 | Loss | - |
DNMT3A | p.P709L | Missense | SNP | 0.667 | 1 | Loss | - |
DNMT3L | - | - | - | - | 1 | Loss | - |
DNPEP | - | - | - | - | 1 | Loss | - |
DNTTIP2 | - | - | - | - | 3 | Gain | - |
DOCK1 | - | - | - | - | 3 | Gain | - |
DOCK10 | - | - | - | - | 1 | Loss | - |
DOCK2 | p.R512* p.N1053H | Nonsense Missense | SNP SNP | 0.433 0.219 | 3 | Gain | - |
DOCK3 | - | - | - | - | 1 | Loss | - |
DOCK5 | - | - | - | - | 1 | Loss | - |
DOCK6 | p.E418K | Missense | SNP | 0.737 | 2 | - | - |
DOCK9 | p.Q1440_K1441del | In_Frame_Del | DEL | 0.925 | 1 | Loss | - |
DOK1 | - | - | - | - | 1 | Loss | - |
DOK2 | p.A353V | Missense | SNP | 1.000 | 1 | Loss | - |
DOK3 | - | - | - | - | 3 | Gain | - |
DOK6 | - | - | - | - | 1 | Loss | - |
DONSON | - | - | - | - | 1 | Loss | - |
DOP1B | - | - | - | - | 1 | Loss | - |
DPH3 | p.P71S | Missense | SNP | 0.958 | 1 | Loss | - |
DPH5 | - | - | - | - | 3 | Gain | - |
DPP10 | - | - | - | - | 3 | Gain | - |
DPP4 | - | - | - | - | 1 | Loss | - |
DPP8 | - | - | - | - | 3 | Gain | - |
DPRX | - | - | - | - | 3 | Gain | - |
DPY19L1 | - | - | - | - | 1 | Loss | - |
DPY30 | - | - | - | - | 1 | Loss | - |
DPYD | - | - | - | - | 3 | Gain | - |
DPYSL2 | - | - | - | - | 1 | Loss | - |
DPYSL3 | - | - | - | - | 1 | Loss | - |
DPYSL4 | p.G62D | Missense | SNP | 0.421 | 3 | Gain | - |
DPYSL5 | - | - | - | - | 1 | Loss | - |
DQX1 | p.R347* | Nonsense | SNP | 0.233 | 1 | Loss | - |
DR1 | - | - | - | - | 3 | Gain | - |
DRAM2 | - | - | - | - | 3 | Gain | - |
DRC1 | - | - | - | - | 1 | Loss | - |
DRD1 | - | - | - | - | 3 | Gain | - |
DRD4 | - | - | - | - | 1 | Loss | - |
DRGX | p.G17S | Missense | SNP | 0.310 | 2 | - | - |
DSC1 | - | - | - | - | 1 | Loss | - |
DSC2 | - | - | - | - | 1 | Loss | - |
DSC3 | - | - | - | - | 1 | Loss | - |
DSCAM | - | - | - | - | 1 | Loss | - |
DSCAML1 | p.T1930I | Missense | SNP | 0.517 | 2 | - | - |
DSEL | - | - | - | - | 1 | Loss | - |
DSG1 | - | - | - | - | 1 | Loss | - |
DSG2 | - | - | - | - | 1 | Loss | - |
DSG3 | - | - | - | - | 1 | Loss | - |
DSG4 | - | - | - | - | 1 | Loss | - |
DSN1 | p.E150G | Missense | SNP | 0.473 | 2 | - | - |
DSPP | - | - | - | - | 1 | Loss | - |
DST | p.S5489Y p.D5204E | Missense Missense | SNP SNP | 0.355 0.516 | 2 | - | - |
DTHD1 | - | - | - | - | 1 | Loss | - |
DTNA | - | - | - | - | 1 | Loss | - |
DTNB | - | - | - | - | 1 | Loss | - |
DTWD1 | - | - | - | - | 1 | Loss | - |
DTWD2 | - | - | - | - | 1 | Loss | - |
DTX3L | p.A352G | Missense | SNP | 0.435 | 2 | - | - |
DTYMK | - | - | - | - | 1 | Loss | - |
DUOX1 | - | - | - | - | 1 | Loss | - |
DUOX2 | - | - | - | - | 1 | Loss | - |
DUOXA1 | - | - | - | - | 1 | Loss | - |
DUOXA2 | - | - | - | - | 1 | Loss | - |
DUS1L | - | - | - | - | 3 | Gain | - |
DUSP1 | - | - | - | - | 3 | Gain | - |
DUSP11 | - | - | - | - | 1 | Loss | - |
DUSP16 | - | - | - | - | 1 | Loss | - |
DUSP19 | - | - | - | - | 1 | Loss | - |
DUSP2 | - | - | - | - | 3 | Gain | - |
DUSP22 | p.S93F | Missense | SNP | 0.191 | 2 | - | - |
DUSP26 | - | - | - | - | 1 | Loss | - |
DUSP27 | p.E502K | Missense | SNP | 0.483 | 2 | - | - |
DUSP28 | - | - | - | - | 1 | Loss | - |
DUSP4 | - | - | - | - | 1 | Loss | - |
DUSP7 | - | - | - | - | 1 | Loss | - |
DUSP8 | - | - | - | - | 1 | Loss | - |
DUT | - | - | - | - | 1 | Loss | - |
DUXA | - | - | - | - | 3 | Gain | - |
DYM | - | - | - | - | 1 | Loss | - |
DYNAP | - | - | - | - | 1 | Loss | - |
DYNC1I2 | - | - | - | - | 1 | Loss | - |
DYNC1LI1 | - | - | - | - | 1 | Loss | - |
DYNC2LI1 | - | - | - | - | 1 | Loss | - |
DYRK1A | - | - | - | - | 1 | Loss | - |
DYRK1B | p.P587S | Missense | SNP | 0.429 | 2 | - | - |
DYSF | p.R386K | Missense | SNP | 0.682 | 1 | Loss | - |
DYTN | - | - | - | - | 1 | Loss | - |
DZIP1 | - | - | - | - | 1 | Loss | - |
E2F6 | - | - | - | - | 1 | Loss | - |
E2F8 | - | - | - | - | 1 | Loss | - |
EAF1 | - | - | - | - | 1 | Loss | - |
EARS2 | p.L488F | Missense | SNP | 0.579 | 2 | - | - |
EBF1 | - | - | - | - | 3 | Gain | - |
EBF2 | - | - | - | - | 1 | Loss | - |
EBF3 | - | - | - | - | 3 | Gain | - |
EBLN1 | p.G204E | Missense | SNP | 0.392 | 1 | Loss | - |
EBLN2 | - | - | - | - | 1 | Loss | - |
EBPL | - | - | - | - | 1 | Loss | - |
ECE2 | p.E637K | Missense | SNP | 0.508 | 2 | - | - |
ECEL1 | - | - | - | - | 1 | Loss | - |
ECHDC3 | - | - | - | - | 1 | Loss | - |
ECHS1 | - | - | - | - | 3 | Gain | - |
ECSCR | - | - | - | - | 1 | Loss | - |
ECT2L | p.W108* | Nonsense | SNP | 0.449 | 2 | - | - |
EDAR | - | - | - | - | 3 | Gain | - |
EDC3 | - | - | - | - | 3 | Gain | - |
EDEM1 | - | - | - | - | 1 | Loss | - |
EDEM3 | - | - | - | - | 3 | Gain | - |
EDIL3 | p.S320F | Missense | SNP | 0.587 | 1 | Loss | - |
EDNRA | p.R41C | Missense | SNP | 0.426 | 2 | - | - |
EDNRB | - | - | - | - | 1 | Loss | - |
EEF1B2 | - | - | - | - | 1 | Loss | - |
EEF1D | - | - | - | - | 3 | Gain | - |
EEPD1 | - | - | - | - | 1 | Loss | - |
EFCAB3 | - | - | - | - | 3 | Gain | - |
EFCAB8 | p.E1013K | Missense | SNP | 0.682 | 2 | - | - |
EFCAB9 | - | - | - | - | 3 | Gain | - |
EFEMP1 | - | - | - | - | 1 | Loss | - |
EFHB | - | - | - | - | 1 | Loss | - |
EFHD1 | - | - | - | - | 1 | Loss | - |
EFL1 | - | - | - | - | 3 | Gain | - |
EFNA5 | - | - | - | - | 1 | Loss | - |
EFNB2 | - | - | - | - | 1 | Loss | - |
EFR3A | - | - | - | - | 3 | Gain | - |
EFR3B | - | - | - | - | 1 | Loss | - |
EGF | - | - | - | - | 1 | Loss | - |
EGFR | - | - | - | - | 21 | Amp | - |
EGR1 | - | - | - | - | 1 | Loss | - |
EGR2 | p.E43K | Missense | SNP | 0.570 | 2 | - | - |
EGR3 | p.M203I | Missense | SNP | 0.972 | 1 | Loss | - |
EGR4 | - | - | - | - | 1 | Loss | - |
EHBP1 | p.E325* | Nonsense | SNP | 0.343 | 1 | Loss | - |
EHD3 | - | - | - | - | 1 | Loss | - |
EHD4 | - | - | - | - | 1 | Loss | - |
EID1 | - | - | - | - | 1 | Loss | - |
EIF1B | - | - | - | - | 1 | Loss | - |
EIF2AK1 | p.Q424* | Nonsense | SNP | 0.330 | 1 | Loss | - |
EIF2AK2 | - | - | - | - | 1 | Loss | - |
EIF2AK3 | - | - | - | - | 1 | Loss | - |
EIF2AK4 | - | - | - | - | 1 | Loss | - |
EIF2B4 | - | - | - | - | 1 | Loss | - |
EIF3B | - | - | - | - | 1 | Loss | - |
EIF3F | - | - | - | - | 1 | Loss | - |
EIF3J | - | - | - | - | 1 | Loss | - |
EIF3M | - | - | - | - | 1 | Loss | - |
EIF4A3 | - | - | - | - | 3 | Gain | - |
EIF4E | - | - | - | - | 1 | Loss | - |
EIF4E1B | p.G185R | Missense | SNP | 0.288 | 3 | Gain | - |
EIF4E2 | - | - | - | - | 1 | Loss | - |
EIF4E3 | - | - | - | - | 1 | Loss | - |
EIF4EBP3 | - | - | - | - | 1 | Loss | - |
EIF4G2 | - | - | - | - | 1 | Loss | - |
EIF5 | p.S172F | Missense | SNP | 0.425 | 2 | - | - |
EIF5B | - | - | - | - | 3 | Gain | - |
EIPR1 | - | - | - | - | 1 | Loss | - |
ELAC1 | - | - | - | - | 1 | Loss | - |
ELF1 | - | - | - | - | 1 | Loss | - |
ELFN1 | p.E125K | Missense | SNP | 0.684 | 1 | Loss | - |
ELL2 | - | - | - | - | 1 | Loss | - |
ELL3 | - | - | - | - | 1 | Loss | - |
ELMO1 | - | - | - | - | 1 | Loss | - |
ELMO2 | p.S95F | Missense | SNP | 0.559 | 2 | - | - |
ELMOD3 | - | - | - | - | 3 | Gain | - |
ELOA2 | - | - | - | - | 1 | Loss | - |
ELOA3C | - | - | - | - | 1 | Loss | - |
ELOA3D | - | - | - | - | 1 | Loss | - |
ELOVL1 | p.P189S | Missense | SNP | 0.493 | 2 | - | - |
ELOVL4 | p.L57F | Missense | SNP | 0.426 | 2 | - | - |
ELOVL6 | - | - | - | - | 1 | Loss | - |
ELOVL7 | - | - | - | - | 1 | Loss | - |
ELP2 | - | - | - | - | 1 | Loss | - |
ELP3 | - | - | - | - | 1 | Loss | - |
ELP4 | - | - | - | - | 1 | Loss | - |
ELP6 | - | - | - | - | 1 | Loss | - |
ELSPBP1 | p.G122R | Missense | SNP | 0.275 | 3 | Gain | - |
EMB | - | - | - | - | 4 | Gain | - |
EMC10 | - | - | - | - | 3 | Gain | - |
EMC3 | - | - | - | - | 1 | Loss | - |
EMCN | - | - | - | - | 1 | Loss | - |
EMILIN1 | - | - | - | - | 1 | Loss | - |
EMILIN2 | - | - | - | - | 1 | Loss | - |
EML4 | - | - | - | - | 1 | Loss | - |
EML6 | - | - | - | - | 1 | Loss | - |
EMP1 | - | - | - | - | 1 | Loss | - |
EMP3 | - | - | - | - | 3 | Gain | - |
EMX1 | - | - | - | - | 1 | Loss | - |
EN1 | - | - | - | - | 3 | Gain | - |
ENC1 | - | - | - | - | 1 | Loss | - |
ENDOV | - | - | - | - | 3 | Gain | - |
ENGASE | - | - | - | - | 3 | Gain | - |
ENKUR | - | - | - | - | 1 | Loss | - |
ENOPH1 | - | - | - | - | 1 | Loss | - |
ENOSF1 | - | - | - | - | 1 | Loss | - |
ENOX1 | - | - | - | - | 1 | Loss | - |
ENPEP | - | - | - | - | 1 | Loss | - |
ENPP2 | p.P331L | Missense | SNP | 0.474 | 2 | - | - |
ENPP7 | p.P316S | Missense | SNP | 0.389 | 3 | Gain | - |
ENTPD3 | - | - | - | - | 1 | Loss | - |
ENTPD4 | - | - | - | - | 1 | Loss | - |
EOGT | - | - | - | - | 1 | Loss | - |
EOMES | - | - | - | - | 1 | Loss | - |
EP300 | p.X685_splice | Splice_Site | SNP | 0.596 | 2 | - | - |
EP400 | p.P2706S | Missense | SNP | 0.463 | 2 | - | - |
EPAS1 | - | - | - | - | 1 | Loss | - |
EPB41L1 | p.E185A | Missense | SNP | 0.459 | 2 | - | - |
EPB41L3 | - | - | - | - | 1 | Loss | - |
EPB41L4A | - | - | - | - | 1 | Loss | - |
EPB41L5 | - | - | - | - | 3 | Gain | - |
EPB42 | - | - | - | - | 1 | Loss | - |
EPC1 | - | - | - | - | 1 | Loss | - |
EPC2 | - | - | - | - | 1 | Loss | - |
EPCAM | - | - | - | - | 1 | Loss | - |
EPDR1 | - | - | - | - | 1 | Loss | - |
EPG5 | - | - | - | - | 1 | Loss | - |
EPHA3 | - | - | - | - | 1 | Loss | - |
EPHA4 | - | - | - | - | 1 | Loss | - |
EPHA7 | p.D678N | Missense | SNP | 0.689 | 2 | - | - |
EPHB3 | p.S721F | Missense | SNP | 0.489 | 2 | - | - |
EPHX2 | - | - | - | - | 1 | Loss | - |
EPHX4 | - | - | - | - | 3 | Gain | - |
EPM2AIP1 | - | - | - | - | 1 | Loss | - |
EPN1 | - | - | - | - | 3 | Gain | - |
EPPK1 | - | - | - | - | 3 | Gain | - |
EPS8 | - | - | - | - | 1 | Loss | - |
EPS8L1 | - | - | - | - | 3 | Gain | - |
EPS8L2 | - | - | - | - | 1 | Loss | - |
EPS8L3 | p.R564K | Missense | SNP | 0.415 | 3 | Gain | - |
EPSTI1 | - | - | - | - | 1 | Loss | - |
ERAP1 | - | - | - | - | 1 | Loss | - |
ERAP2 | p.X192_splice | Splice_Site | SNP | 0.636 | 1 | Loss | - |
ERBB3 | p.A245V | Missense | SNP | 0.504 | 2 | - | - |
ERBB4 | - | - | - | - | 1 | Loss | - |
ERBIN | - | - | - | - | 1 | Loss | - |
ERC2 | - | - | - | - | 1 | Loss | - |
ERCC3 | - | - | - | - | 3 | Gain | - |
ERCC5 | - | - | - | - | 1 | Loss | - |
ERCC8 | - | - | - | - | 1 | Loss | - |
ERFE | - | - | - | - | 1 | Loss | - |
ERG | - | - | - | - | 1 | Loss | - |
ERGIC1 | - | - | - | - | 3 | Gain | - |
ERI1 | - | - | - | - | 1 | Loss | - |
ERI2 | p.T508I | Missense | SNP | 0.533 | 2 | - | - |
ERICH1 | - | - | - | - | 1 | Loss | - |
ERICH2 | - | - | - | - | 1 | Loss | - |
ERICH3 | p.W705* p.E415K;p.K414N | Nonsense Missense | SNP MNP | 0.364 0.599 | 2 | - | - |
ERICH6B | p.R226C | Missense | SNP | 0.304 | 1 | Loss | - |
ERLEC1 | - | - | - | - | 1 | Loss | - |
ERLIN2 | - | - | - | - | 1 | Loss | - |
ERMN | - | - | - | - | 1 | Loss | - |
ERN1 | p.A707T | Missense | SNP | 0.505 | 3 | Gain | - |
ERP27 | - | - | - | - | 1 | Loss | - |
ERVV-1 | - | - | - | - | 3 | Gain | - |
ERVV-2 | p.S405F | Missense | SNP | 0.744 | 3 | Gain | - |
ESCO2 | - | - | - | - | 1 | Loss | - |
ESD | - | - | - | - | 1 | Loss | - |
ESM1 | - | - | - | - | 1 | Loss | - |
ESPNL | - | - | - | - | 1 | Loss | - |
ESRP1 | p.R539* | Nonsense | SNP | 0.436 | 2 | - | - |
ETAA1 | - | - | - | - | 1 | Loss | - |
ETF1 | - | - | - | - | 1 | Loss | - |
ETFA | - | - | - | - | 3 | Gain | - |
ETFB | - | - | - | - | 3 | Gain | - |
ETNK1 | - | - | - | - | 1 | Loss | - |
ETNPPL | - | - | - | - | 1 | Loss | - |
ETS2 | - | - | - | - | 1 | Loss | - |
ETV1 | - | - | - | - | 1 | Loss | - |
EVA1A | - | - | - | - | 1 | Loss | - |
EVA1C | - | - | - | - | 1 | Loss | - |
EVI5 | - | - | - | - | 3 | Gain | - |
EVPL | - | - | - | - | 3 | Gain | - |
EVX1 | p.G108E | Missense | SNP | 0.327 | 1 | Loss | - |
EVX2 | - | - | - | - | 1 | Loss | - |
EXD1 | - | - | - | - | 1 | Loss | - |
EXOC6B | - | - | - | - | 1 | Loss | - |
EXOC7 | - | - | - | - | 1 | Loss | - |
EXOG | - | - | - | - | 1 | Loss | - |
EXOSC4 | - | - | - | - | 3 | Gain | - |
EXOSC7 | - | - | - | - | 1 | Loss | - |
EXOSC8 | - | - | - | - | 1 | Loss | - |
EXOSC9 | - | - | - | - | 1 | Loss | - |
EXPH5 | p.N1575K p.L804F | Missense Missense | SNP SNP | 0.451 0.529 | 2 | - | - |
EXTL2 | - | - | - | - | 3 | Gain | - |
EXTL3 | - | - | - | - | 1 | Loss | - |
EYA4 | p.G49D p.M418I | Missense Missense | SNP SNP | 0.317 0.396 | 2 | - | - |
F10 | - | - | - | - | 1 | Loss | - |
F12 | - | - | - | - | 3 | Gain | - |
F13B | p.T74S | Missense | SNP | 0.492 | 3 | Gain | - |
F2R | - | - | - | - | 1 | Loss | - |
F2RL1 | - | - | - | - | 1 | Loss | - |
F2RL2 | - | - | - | - | 1 | Loss | - |
F3 | - | - | - | - | 3 | Gain | - |
F5 | p.P1377S | Missense | SNP | 0.325 | 2 | - | - |
F7 | - | - | - | - | 1 | Loss | - |
FAAP100 | p.P114S | Missense | SNP | 0.432 | 3 | Gain | - |
FABP1 | p.E62K | Missense | SNP | 0.565 | 1 | Loss | - |
FABP2 | - | - | - | - | 1 | Loss | - |
FABP6 | - | - | - | - | 3 | Gain | - |
FADS6 | - | - | - | - | 3 | Gain | - |
FAF2 | p.E6* | Nonsense | SNP | 0.333 | 3 | Gain | - |
FAH | - | - | - | - | 3 | Gain | - |
FAHD2A | - | - | - | - | 3 | Gain | - |
FAHD2B | - | - | - | - | 3 | Gain | - |
FAM102B | - | - | - | - | 3 | Gain | - |
FAM104A | - | - | - | - | 3 | Gain | - |
FAM107A | - | - | - | - | 1 | Loss | - |
FAM107B | p.E279K | Missense | SNP | 0.194 | 1 | Loss | - |
FAM110A | p.S169L p.P265S | Missense Missense | SNP SNP | 0.500 0.298 | 2 | - | - |
FAM110B | p.E289K | Missense | SNP | 0.604 | 2 | - | - |
FAM110C | - | - | - | - | 1 | Loss | - |
FAM114A1 | - | - | - | - | 1 | Loss | - |
FAM114A2 | - | - | - | - | 1 | Loss | - |
FAM117B | - | - | - | - | 1 | Loss | - |
FAM120AOS | p.S234F | Missense | SNP | 0.184 | 2 | - | - |
FAM124A | - | - | - | - | 1 | Loss | - |
FAM124B | - | - | - | - | 1 | Loss | - |
FAM126A | - | - | - | - | 1 | Loss | - |
FAM126B | - | - | - | - | 1 | Loss | - |
FAM129A | p.S146F | Missense | SNP | 0.609 | 3 | Gain | - |
FAM135B | - | - | - | - | 3 | Gain | - |
FAM136A | p.S88W | Missense | SNP | 0.398 | 1 | Loss | - |
FAM13A | - | - | - | - | 1 | Loss | - |
FAM13B | - | - | - | - | 1 | Loss | - |
FAM13C | p.T126A | Missense | SNP | 0.655 | 2 | - | - |
FAM151B | - | - | - | - | 1 | Loss | - |
FAM153A | - | - | - | - | 3 | Gain | - |
FAM153B | - | - | - | - | 3 | Gain | - |
FAM153C | - | - | - | - | 3 | Gain | - |
FAM155A | - | - | - | - | 1 | Loss | - |
FAM160A2 | - | - | - | - | 1 | Loss | - |
FAM160B2 | - | - | - | - | 1 | Loss | - |
FAM161A | - | - | - | - | 1 | Loss | - |
FAM167A | - | - | - | - | 1 | Loss | - |
FAM169A | p.E112K | Missense | SNP | 0.270 | 1 | Loss | - |
FAM169B | - | - | - | - | 3 | Gain | - |
FAM170A | p.W44* | Nonsense | SNP | 0.634 | 1 | Loss | - |
FAM171A1 | p.G755E p.K754N p.P290L | Missense Missense Missense | SNP SNP SNP | 0.302 0.673 0.438 | 1 | Loss | - |
FAM171B | - | - | - | - | 1 | Loss | - |
FAM172A | - | - | - | - | 1 | Loss | - |
FAM174A | - | - | - | - | 1 | Loss | - |
FAM174B | - | - | - | - | 3 | Gain | - |
FAM175B | p.D23Y | Missense | SNP | 0.595 | ND | ND | - |
FAM178B | - | - | - | - | 3 | Gain | - |
FAM186A | p.G1276E | Missense | SNP | 0.470 | 2 | - | - |
FAM187B | p.P147L | Missense | SNP | 0.491 | 2 | - | - |
FAM188B | p.P220L p.P564L | Missense Missense | SNP SNP | 0.357 0.333 | ND | ND | - |
FAM189B | p.S574F | Missense | SNP | 0.500 | 2 | - | - |
FAM193B | - | - | - | - | 3 | Gain | - |
FAM198A | - | - | - | - | 1 | Loss | - |
FAM19A1 | - | - | - | - | 1 | Loss | - |
FAM19A3 | - | - | - | - | 3 | Gain | - |
FAM19A4 | - | - | - | - | 1 | Loss | - |
FAM207A | - | - | - | - | 1 | Loss | - |
FAM208A | - | - | - | - | 1 | Loss | - |
FAM208B | - | - | - | - | 1 | Loss | - |
FAM20A | - | - | - | - | 3 | Gain | - |
FAM20C | p.R64W | Missense | SNP | 0.302 | 1 | Loss | - |
FAM210A | - | - | - | - | 1 | Loss | - |
FAM214A | - | - | - | - | 1 | Loss | - |
FAM216B | - | - | - | - | 1 | Loss | - |
FAM219B | - | - | - | - | 3 | Gain | - |
FAM220A | - | - | - | - | 1 | Loss | - |
FAM221A | - | - | - | - | 1 | Loss | - |
FAM227B | - | - | - | - | 1 | Loss | - |
FAM228A | - | - | - | - | 1 | Loss | - |
FAM228B | - | - | - | - | 1 | Loss | - |
FAM234B | - | - | - | - | 1 | Loss | - |
FAM237A | - | - | - | - | 1 | Loss | - |
FAM240A | - | - | - | - | 1 | Loss | - |
FAM241A | - | - | - | - | 1 | Loss | - |
FAM243A | - | - | - | - | 1 | Loss | - |
FAM243B | - | - | - | - | 1 | Loss | - |
FAM26E | p.L302F | Missense | SNP | 0.588 | ND | ND | - |
FAM3B | - | - | - | - | 1 | Loss | - |
FAM3D | - | - | - | - | 1 | Loss | - |
FAM49A | - | - | - | - | 1 | Loss | - |
FAM49B | - | - | - | - | 3 | Gain | - |
FAM53C | - | - | - | - | 1 | Loss | - |
FAM65B | p.S42F | Missense | SNP | 0.265 | ND | ND | - |
FAM69A | - | - | - | - | 3 | Gain | - |
FAM69C | - | - | - | - | 1 | Loss | - |
FAM71B | - | - | - | - | 1 | Loss | - |
FAM71E1 | - | - | - | - | 3 | Gain | - |
FAM71E2 | p.P831L p.P504L p.E383K | Missense Missense Missense | SNP SNP SNP | 0.318 0.371 0.697 | 3 | Gain | - |
FAM81A | - | - | - | - | 3 | Gain | - |
FAM81B | - | - | - | - | 1 | Loss | - |
FAM83E | - | - | - | - | 3 | Gain | - |
FAM83H | - | - | - | - | 3 | Gain | - |
FAM84A | - | - | - | - | 1 | Loss | - |
FAM84B | - | - | - | - | 3 | Gain | - |
FAM86B1 | - | - | - | - | 1 | Loss | - |
FAM98A | - | - | - | - | 1 | Loss | - |
FAM98B | - | - | - | - | 1 | Loss | - |
FANCA | p.L946F | Missense | SNP | 0.453 | 2 | - | - |
FANCD2 | - | - | - | - | 1 | Loss | - |
FANCD2OS | - | - | - | - | 1 | Loss | - |
FANCF | - | - | - | - | 1 | Loss | - |
FANCI | - | - | - | - | 3 | Gain | - |
FANCL | - | - | - | - | 1 | Loss | - |
FAP | - | - | - | - | 1 | Loss | - |
FAR1 | - | - | - | - | 1 | Loss | - |
FARP1 | - | - | - | - | 1 | Loss | - |
FARP2 | - | - | - | - | 1 | Loss | - |
FARSB | - | - | - | - | 1 | Loss | - |
FASN | - | - | - | - | 3 | Gain | - |
FASTKD1 | - | - | - | - | 1 | Loss | - |
FASTKD2 | - | - | - | - | 1 | Loss | - |
FAT1 | p.R937* | Nonsense | SNP | 0.446 | 2 | - | - |
FAT2 | - | - | - | - | 1 | Loss | - |
FAT3 | p.R2430G | Missense | SNP | 0.551 | 2 | - | - |
FAT4 | - | - | - | - | 1 | Loss | - |
FAXDC2 | - | - | - | - | 1 | Loss | - |
FBF1 | - | - | - | - | 3 | Gain | - |
FBH1 | - | - | - | - | 1 | Loss | - |
FBLL1 | - | - | - | - | 3 | Gain | - |
FBLN2 | p.P544S | Missense | SNP | 0.964 | 1 | Loss | - |
FBLN7 | - | - | - | - | 3 | Gain | - |
FBN1 | - | - | - | - | 1 | Loss | - |
FBN2 | p.G1804E | Missense | SNP | 0.381 | 1 | Loss | - |
FBN3 | p.C1933Y | Missense | SNP | 0.567 | 2 | - | - |
FBXL13 | p.R229C | Missense | SNP | 0.467 | 2 | - | - |
FBXL17 | - | - | - | - | 1 | Loss | - |
FBXL18 | - | - | - | - | 1 | Loss | - |
FBXL2 | - | - | - | - | 1 | Loss | - |
FBXL22 | - | - | - | - | 3 | Gain | - |
FBXL3 | - | - | - | - | 1 | Loss | - |
FBXL4 | p.S212F | Missense | SNP | 0.490 | 2 | - | - |
FBXL6 | - | - | - | - | 3 | Gain | - |
FBXO11 | - | - | - | - | 1 | Loss | - |
FBXO15 | - | - | - | - | 1 | Loss | - |
FBXO16 | - | - | - | - | 1 | Loss | - |
FBXO18 | p.S592F | Missense | SNP | 0.609 | ND | ND | - |
FBXO21 | p.G558D | Missense | SNP | 0.524 | 2 | - | - |
FBXO22 | - | - | - | - | 3 | Gain | - |
FBXO25 | - | - | - | - | 1 | Loss | - |
FBXO36 | - | - | - | - | 1 | Loss | - |
FBXO38 | - | - | - | - | 1 | Loss | - |
FBXO41 | - | - | - | - | 1 | Loss | - |
FBXO48 | - | - | - | - | 1 | Loss | - |
FBXW11 | - | - | - | - | 3 | Gain | - |
FBXW12 | - | - | - | - | 1 | Loss | - |
FCAR | - | - | - | - | 3 | Gain | - |
FCGR1B | - | - | - | - | 3 | Gain | - |
FCGRT | - | - | - | - | 3 | Gain | - |
FCHO2 | - | - | - | - | 1 | Loss | - |
FCHSD1 | - | - | - | - | 1 | Loss | - |
FCMR | p.R247K p.P128S | Missense Missense | SNP SNP | 0.514 0.345 | 2 | - | - |
FCRL1 | p.W77* | Nonsense | SNP | 0.323 | 2 | - | - |
FCRL5 | p.Y83* | Nonsense | SNP | 0.554 | 2 | - | - |
FDFT1 | - | - | - | - | 1 | Loss | - |
FDXR | - | - | - | - | 3 | Gain | - |
FECH | - | - | - | - | 1 | Loss | - |
FEM1B | - | - | - | - | 3 | Gain | - |
FEM1C | - | - | - | - | 1 | Loss | - |
FER | - | - | - | - | 1 | Loss | - |
FER1L5 | - | - | - | - | 3 | Gain | - |
FERD3L | p.E110K | Missense | SNP | 0.627 | 1 | Loss | - |
FES | - | - | - | - | 3 | Gain | - |
FEV | - | - | - | - | 1 | Loss | - |
FEZ2 | - | - | - | - | 1 | Loss | - |
FEZF2 | - | - | - | - | 1 | Loss | - |
FGA | p.S852F | Missense | SNP | 0.444 | 2 | - | - |
FGD5 | - | - | - | - | 1 | Loss | - |
FGF1 | - | - | - | - | 1 | Loss | - |
FGF14 | - | - | - | - | 1 | Loss | - |
FGF17 | - | - | - | - | 1 | Loss | - |
FGF18 | - | - | - | - | 3 | Gain | - |
FGF2 | - | - | - | - | 1 | Loss | - |
FGF20 | - | - | - | - | 1 | Loss | - |
FGF21 | - | - | - | - | 3 | Gain | - |
FGF5 | - | - | - | - | 1 | Loss | - |
FGF7 | - | - | - | - | 1 | Loss | - |
FGFR4 | - | - | - | - | 3 | Gain | - |
FGL1 | - | - | - | - | 1 | Loss | - |
FGR | p.N235S | Missense | SNP | 0.660 | 2 | - | - |
FHIT | - | - | - | - | 1 | Loss | - |
FHL2 | - | - | - | - | 3 | Gain | - |
FHL5 | p.R107K | Missense | SNP | 0.293 | 2 | - | - |
FHOD3 | p.P335S p.P485L p.P738Q | Missense Missense Missense | SNP SNP SNP | 0.633 0.500 0.194 | 1 | Loss | - |
FIBIN | - | - | - | - | 1 | Loss | - |
FIGLA | - | - | - | - | 1 | Loss | - |
FIGN | - | - | - | - | 1 | Loss | - |
FIGNL1 | - | - | - | - | 1 | Loss | - |
FIZ1 | - | - | - | - | 3 | Gain | - |
FKBP10 | - | - | - | - | 1 | Loss | - |
FKBP14 | - | - | - | - | 21 | Amp | - |
FKBP1B | - | - | - | - | 1 | Loss | - |
FKBP7 | - | - | - | - | 1 | Loss | - |
FKBP9 | - | - | - | - | 1 | Loss | - |
FLG | p.G3795K | Missense | MNP | 0.477 | 3 | Gain | - |
FLG2 | - | - | - | - | 3 | Gain | - |
FLNB | - | - | - | - | 1 | Loss | - |
FLT3 | p.P253L | Missense | SNP | 0.169 | 2 | - | - |
FLT3LG | - | - | - | - | 3 | Gain | - |
FLT4 | - | - | - | - | 3 | Gain | - |
FMN2 | p.G1231R p.E1553K | Missense Missense | SNP SNP | 0.421 0.581 | 2 | - | - |
FMNL2 | p.H329Y | Missense | SNP | 1.000 | 1 | Loss | - |
FMOD | p.N288I | Missense | SNP | 0.568 | 2 | - | - |
FN1 | - | - | - | - | 1 | Loss | - |
FN3K | - | - | - | - | 3 | Gain | - |
FN3KRP | - | - | - | - | 3 | Gain | - |
FNBP1L | - | - | - | - | 3 | Gain | - |
FNDC11 | - | - | - | - | 3 | Gain | - |
FNDC3A | - | - | - | - | 1 | Loss | - |
FNDC4 | - | - | - | - | 1 | Loss | - |
FNDC7 | p.P375L | Missense | SNP | 0.569 | 3 | Gain | - |
FNDC9 | - | - | - | - | 1 | Loss | - |
FNIP1 | - | - | - | - | 1 | Loss | - |
FOSL2 | - | - | - | - | 1 | Loss | - |
FOXB1 | - | - | - | - | 3 | Gain | - |
FOXD1 | - | - | - | - | 1 | Loss | - |
FOXG1 | p.H52P | Missense | SNP | 0.294 | 2 | - | - |
FOXH1 | - | - | - | - | 3 | Gain | - |
FOXI1 | - | - | - | - | 3 | Gain | - |
FOXI2 | - | - | - | - | 3 | Gain | - |
FOXI3 | - | - | - | - | 1 | Loss | - |
FOXJ1 | - | - | - | - | 1 | Loss | - |
FOXK1 | - | - | - | - | 1 | Loss | - |
FOXK2 | - | - | - | - | 1 | Loss | - |
FOXN2 | - | - | - | - | 1 | Loss | - |
FOXO1 | - | - | - | - | 1 | Loss | - |
FOXP1 | - | - | - | - | 1 | Loss | - |
FOXP4 | p.G43S | Missense | SNP | 0.500 | 2 | - | - |
FP565260.1 | - | - | - | - | 1 | Loss | - |
FP565260.2 | - | - | - | - | 1 | Loss | - |
FP565260.3 | - | - | - | - | 1 | Loss | - |
FP565260.4 | - | - | - | - | 1 | Loss | - |
FP565260.6 | - | - | - | - | 1 | Loss | - |
FPR1 | - | - | - | - | 3 | Gain | - |
FPR2 | - | - | - | - | 3 | Gain | - |
FPR3 | - | - | - | - | 3 | Gain | - |
FREM2 | p.R1305K p.S1430F | Missense Missense | SNP SNP | 0.364 0.444 | 1 | Loss | - |
FRG2B | - | - | - | - | 3 | Gain | - |
FRG2C | - | - | - | - | 1 | Loss | - |
FRMD4A | - | - | - | - | 1 | Loss | - |
FRMD4B | - | - | - | - | 1 | Loss | - |
FRMD5 | - | - | - | - | 1 | Loss | - |
FRRS1 | - | - | - | - | 3 | Gain | - |
FRS3 | p.S145F | Missense | SNP | 0.417 | 2 | - | - |
FRY | - | - | - | - | 1 | Loss | - |
FRYL | - | - | - | - | 1 | Loss | - |
FRZB | - | - | - | - | 1 | Loss | - |
FSCB | p.S590F p.P196S | Missense Missense | SNP SNP | 0.511 0.371 | 2 | - | - |
FSCN1 | - | - | - | - | 1 | Loss | - |
FSCN2 | - | - | - | - | 3 | Gain | - |
FSD2 | - | - | - | - | 3 | Gain | - |
FSHB | - | - | - | - | 1 | Loss | - |
FSHR | - | - | - | - | 1 | Loss | - |
FSIP1 | - | - | - | - | 1 | Loss | - |
FSIP2 | p.G1128R | Missense | SNP | 0.981 | 1 | Loss | - |
FST | - | - | - | - | 1 | Loss | - |
FSTL4 | p.G31S | Missense | SNP | 0.607 | 1 | Loss | - |
FTCD | - | - | - | - | 1 | Loss | - |
FTCDNL1 | - | - | - | - | 1 | Loss | - |
FTH1 | p.Y111H | Missense | SNP | 0.524 | 2 | - | - |
FTL | - | - | - | - | 3 | Gain | - |
FTMT | - | - | - | - | 1 | Loss | - |
FTSJ3 | - | - | - | - | 3 | Gain | - |
FUOM | - | - | - | - | 3 | Gain | - |
FURIN | - | - | - | - | 3 | Gain | - |
FUT1 | - | - | - | - | 3 | Gain | - |
FUT10 | - | - | - | - | 1 | Loss | - |
FUT2 | - | - | - | - | 3 | Gain | - |
FUT9 | p.W131* | Nonsense | SNP | 0.582 | 2 | - | - |
FUZ | - | - | - | - | 3 | Gain | - |
FYCO1 | - | - | - | - | 1 | Loss | - |
FZD1 | p.G265C | Missense | SNP | 0.592 | 2 | - | - |
FZD3 | - | - | - | - | 1 | Loss | - |
FZD5 | - | - | - | - | 1 | Loss | - |
FZD7 | - | - | - | - | 1 | Loss | - |
FZD8 | - | - | - | - | 1 | Loss | - |
G3BP1 | - | - | - | - | 1 | Loss | - |
G3BP2 | p.E147K | Missense | SNP | 0.556 | 2 | - | - |
G6PC | p.X77_splice | Splice_Site | SNP | 0.440 | 2 | - | - |
G6PC2 | - | - | - | - | 1 | Loss | - |
GAA | p.R794C | Missense | SNP | 0.446 | 3 | Gain | - |
GAB4 | p.S256C | Missense | SNP | 0.527 | 2 | - | - |
GABBR1 | p.S289L | Missense | SNP | 0.500 | 2 | - | - |
GABPA | - | - | - | - | 1 | Loss | - |
GABPB1 | - | - | - | - | 1 | Loss | - |
GABRA1 | p.N130K p.S271F | Missense Missense | SNP SNP | 0.336 0.244 | 3 | Gain | - |
GABRA2 | - | - | - | - | 1 | Loss | - |
GABRA4 | - | - | - | - | 1 | Loss | - |
GABRA6 | - | - | - | - | 3 | Gain | - |
GABRB1 | p.M162I | Missense | SNP | 0.712 | 1 | Loss | - |
GABRB2 | - | - | - | - | 3 | Gain | - |
GABRB3 | p.M311T | Missense | SNP | 0.390 | 2 | - | - |
GABRG1 | - | - | - | - | 1 | Loss | - |
GABRG2 | - | - | - | - | 3 | Gain | - |
GABRP | - | - | - | - | 3 | Gain | - |
GAD1 | - | - | - | - | 1 | Loss | - |
GAD2 | p.G103R | Missense | SNP | 0.678 | 1 | Loss | - |
GADL1 | - | - | - | - | 1 | Loss | - |
GAL3ST2 | - | - | - | - | 1 | Loss | - |
GALK1 | p.E43K | Missense | SNP | 0.331 | 3 | Gain | - |
GALK2 | - | - | - | - | 1 | Loss | - |
GALM | - | - | - | - | 1 | Loss | - |
GALNT1 | - | - | - | - | 1 | Loss | - |
GALNT10 | - | - | - | - | 1 | Loss | - |
GALNT13 | - | - | - | - | 1 | Loss | - |
GALNT14 | - | - | - | - | 1 | Loss | - |
GALNT15 | - | - | - | - | 1 | Loss | - |
GALNT18 | - | - | - | - | 1 | Loss | - |
GALNT2 | p.S29P | Missense | SNP | 0.564 | 2 | - | - |
GALNT3 | - | - | - | - | 1 | Loss | - |
GALNT5 | - | - | - | - | 1 | Loss | - |
GALNTL6 | p.W60* | Nonsense | SNP | 0.338 | 2 | - | - |
GALP | - | - | - | - | 3 | Gain | - |
GALR1 | - | - | - | - | 1 | Loss | - |
GALR2 | - | - | - | - | 1 | Loss | - |
GANC | p.P418S | Missense | SNP | 0.966 | 1 | Loss | - |
GAPT | - | - | - | - | 1 | Loss | - |
GAR1 | - | - | - | - | 1 | Loss | - |
GAREM1 | - | - | - | - | 1 | Loss | - |
GAREM2 | - | - | - | - | 1 | Loss | - |
GARS | - | - | - | - | 21 | Amp | - |
GART | - | - | - | - | 1 | Loss | - |
GAS2 | - | - | - | - | 1 | Loss | - |
GAS6 | - | - | - | - | 1 | Loss | - |
GATA3 | - | - | - | - | 1 | Loss | - |
GATA4 | - | - | - | - | 1 | Loss | - |
GATD1 | - | - | - | - | 1 | Loss | - |
GATD3A | - | - | - | - | 1 | Loss | - |
GATD3B | - | - | - | - | 1 | Loss | - |
GATM | - | - | - | - | 1 | Loss | - |
GBE1 | - | - | - | - | 1 | Loss | - |
GBX2 | - | - | - | - | 1 | Loss | - |
GCA | - | - | - | - | 1 | Loss | - |
GCC2 | - | - | - | - | 3 | Gain | - |
GCFC2 | - | - | - | - | 1 | Loss | - |
GCG | - | - | - | - | 1 | Loss | - |
GCGR | - | - | - | - | 3 | Gain | - |
GCHFR | - | - | - | - | 1 | Loss | - |
GCK | - | - | - | - | 1 | Loss | - |
GCKR | - | - | - | - | 1 | Loss | - |
GCLM | - | - | - | - | 3 | Gain | - |
GCN1 | p.P1500S | Missense | SNP | 0.597 | 2 | - | - |
GCNT3 | - | - | - | - | 3 | Gain | - |
GCNT4 | - | - | - | - | 1 | Loss | - |
GCOM1 | - | - | - | - | 3 | Gain | - |
GCSAML | p.G22E | Missense | SNP | 0.569 | 2 | - | - |
GDAP2 | - | - | - | - | 3 | Gain | - |
GDF10 | p.R36M | Missense | SNP | 0.368 | 2 | - | - |
GDF7 | - | - | - | - | 1 | Loss | - |
GDF9 | - | - | - | - | 1 | Loss | - |
GDI2 | - | - | - | - | 1 | Loss | - |
GDPD4 | p.F53C | Missense | SNP | 0.440 | 2 | - | - |
GDPGP1 | - | - | - | - | 3 | Gain | - |
GEMIN5 | - | - | - | - | 1 | Loss | - |
GEMIN6 | - | - | - | - | 1 | Loss | - |
GEN1 | - | - | - | - | 1 | Loss | - |
GET4 | - | - | - | - | 1 | Loss | - |
GFAP | p.E64K | Missense | SNP | 0.404 | 2 | - | - |
GFI1 | - | - | - | - | 3 | Gain | - |
GFM2 | - | - | - | - | 1 | Loss | - |
GFPT1 | - | - | - | - | 1 | Loss | - |
GFPT2 | - | - | - | - | 3 | Gain | - |
GFRA2 | - | - | - | - | 1 | Loss | - |
GFRA3 | - | - | - | - | 1 | Loss | - |
GFY | p.E228K | Missense | SNP | 0.310 | 3 | Gain | - |
GGA3 | - | - | - | - | 3 | Gain | - |
GGACT | - | - | - | - | 1 | Loss | - |
GGCT | - | - | - | - | 21 | Amp | - |
GGCX | - | - | - | - | 3 | Gain | - |
GGN | p.A477T | Missense | SNP | 0.486 | 2 | - | - |
GGNBP2 | p.P37S p.G176R | Missense Missense | SNP SNP | 0.491 0.548 | 2 | - | - |
GGT7 | p.P503L | Missense | SNP | 0.516 | 2 | - | - |
GH1 | - | - | - | - | 3 | Gain | - |
GH2 | p.L179Y | Missense | MNP | 0.461 | 3 | Gain | - |
GHRHR | - | - | - | - | 1 | Loss | - |
GHRL | - | - | - | - | 1 | Loss | - |
GIGYF2 | - | - | - | - | 1 | Loss | - |
GIMAP1 | p.V212L p.G304E | Missense Missense | SNP SNP | 0.652 0.212 | 2 | - | - |
GIMD1 | - | - | - | - | 1 | Loss | - |
GIN1 | - | - | - | - | 1 | Loss | - |
GIPC3 | p.P260L | Missense | SNP | 0.694 | 2 | - | - |
GJA5 | p.*359Gext*26 | Nonstop | SNP | 0.552 | 2 | - | - |
GJD4 | - | - | - | - | 1 | Loss | - |
GK2 | p.P452S | Missense | SNP | 0.547 | 2 | - | - |
GKN1 | - | - | - | - | 1 | Loss | - |
GKN2 | - | - | - | - | 1 | Loss | - |
GLB1 | - | - | - | - | 1 | Loss | - |
GLB1L | - | - | - | - | 1 | Loss | - |
GLCCI1 | - | - | - | - | 1 | Loss | - |
GLCE | - | - | - | - | 3 | Gain | - |
GLDN | - | - | - | - | 1 | Loss | - |
GLI2 | - | - | - | - | 3 | Gain | - |
GLI3 | p.S1013F p.S718F | Missense Missense | SNP SNP | 0.707 0.651 | 1 | Loss | - |
GLI4 | - | - | - | - | 3 | Gain | - |
GLIPR1L2 | p.E299K | Missense | SNP | 0.471 | 2 | - | - |
GLMN | - | - | - | - | 3 | Gain | - |
GLP1R | p.D430N | Missense | SNP | 0.448 | 2 | - | - |
GLRA1 | - | - | - | - | 1 | Loss | - |
GLRX | - | - | - | - | 1 | Loss | - |
GLRX2 | - | - | - | - | 3 | Gain | - |
GLRX3 | - | - | - | - | 3 | Gain | - |
GLS | - | - | - | - | 1 | Loss | - |
GLT8D1 | - | - | - | - | 1 | Loss | - |
GLTSCR1 | p.G576E | Missense | SNP | 0.529 | ND | ND | - |
GLTSCR1L | p.Q431* | Nonsense | SNP | 0.585 | ND | ND | - |
GLYCTK | - | - | - | - | 1 | Loss | - |
GM2A | - | - | - | - | 1 | Loss | - |
GMCL1 | - | - | - | - | 1 | Loss | - |
GMCL2 | - | - | - | - | 3 | Gain | - |
GMEB1 | p.M91I | Missense | SNP | 0.364 | 2 | - | - |
GMEB2 | p.E161D | Missense | SNP | 0.616 | 3 | Gain | - |
GMIP | p.V210E | Missense | SNP | 0.600 | 2 | - | - |
GML | - | - | - | - | 3 | Gain | - |
GMPPA | - | - | - | - | 1 | Loss | - |
GMPPB | - | - | - | - | 1 | Loss | - |
GNA12 | - | - | - | - | 1 | Loss | - |
GNA13 | - | - | - | - | 3 | Gain | - |
GNA15 | p.D280Tfs*170 | Frame_Shift_Del | DEL | 0.490 | 2 | - | - |
GNAI2 | - | - | - | - | 1 | Loss | - |
GNAI3 | - | - | - | - | 3 | Gain | - |
GNAL | - | - | - | - | 1 | Loss | - |
GNAT1 | - | - | - | - | 1 | Loss | - |
GNAT2 | - | - | - | - | 3 | Gain | - |
GNB5 | - | - | - | - | 1 | Loss | - |
GNL3 | - | - | - | - | 1 | Loss | - |
GNLY | - | - | - | - | 1 | Loss | - |
GNPDA1 | - | - | - | - | 1 | Loss | - |
GNPDA2 | - | - | - | - | 1 | Loss | - |
GNRH1 | - | - | - | - | 1 | Loss | - |
GOLGA4 | - | - | - | - | 1 | Loss | - |
GOLGA6A | - | - | - | - | 3 | Gain | - |
GOLGA6B | - | - | - | - | 3 | Gain | - |
GOLGA6C | - | - | - | - | 3 | Gain | - |
GOLGA6D | - | - | - | - | 3 | Gain | - |
GOLGA6L2 | p.G692E | Missense | SNP | 0.295 | 2 | - | - |
GOLGB1 | p.E1957K | Missense | SNP | 0.431 | 2 | - | - |
GOLT1B | - | - | - | - | 1 | Loss | - |
GON4L | p.P477L | Missense | SNP | 0.440 | 2 | - | - |
GORASP1 | - | - | - | - | 1 | Loss | - |
GORASP2 | - | - | - | - | 1 | Loss | - |
GP6 | - | - | - | - | 3 | Gain | - |
GPAA1 | - | - | - | - | 3 | Gain | - |
GPALPP1 | - | - | - | - | 1 | Loss | - |
GPAM | p.C70S | Missense | SNP | 0.376 | 2 | - | - |
GPAT2 | - | - | - | - | 3 | Gain | - |
GPAT3 | - | - | - | - | 1 | Loss | - |
GPATCH11 | - | - | - | - | 1 | Loss | - |
GPBAR1 | - | - | - | - | 1 | Loss | - |
GPBP1 | - | - | - | - | 1 | Loss | - |
GPC1 | - | - | - | - | 1 | Loss | - |
GPC5 | - | - | - | - | 1 | Loss | - |
GPC6 | - | - | - | - | 1 | Loss | - |
GPD1L | - | - | - | - | 1 | Loss | - |
GPD2 | - | - | - | - | 1 | Loss | - |
GPER1 | - | - | - | - | 1 | Loss | - |
GPHN | - | - | - | - | 1 | Loss | - |
GPIHBP1 | - | - | - | - | 3 | Gain | - |
GPN1 | - | - | - | - | 1 | Loss | - |
GPNMB | - | - | - | - | 1 | Loss | - |
GPR1 | - | - | - | - | 1 | Loss | - |
GPR141 | p.S217F | Missense | SNP | 0.568 | 1 | Loss | - |
GPR142 | - | - | - | - | 3 | Gain | - |
GPR143 | p.Q302* | Nonsense | SNP | 1.000 | ND | ND | - |
GPR146 | - | - | - | - | 1 | Loss | - |
GPR15 | p.L52F | Missense | SNP | 0.386 | 2 | - | - |
GPR150 | - | - | - | - | 1 | Loss | - |
GPR151 | - | - | - | - | 1 | Loss | - |
GPR155 | - | - | - | - | 1 | Loss | - |
GPR158 | - | - | - | - | 1 | Loss | - |
GPR17 | - | - | - | - | 3 | Gain | - |
GPR176 | - | - | - | - | 1 | Loss | - |
GPR18 | - | - | - | - | 1 | Loss | - |
GPR180 | - | - | - | - | 1 | Loss | - |
GPR183 | - | - | - | - | 1 | Loss | - |
GPR19 | - | - | - | - | 1 | Loss | - |
GPR20 | - | - | - | - | 3 | Gain | - |
GPR25 | p.I246F | Missense | SNP | 0.426 | 3 | Gain | - |
GPR27 | - | - | - | - | 1 | Loss | - |
GPR32 | - | - | - | - | 3 | Gain | - |
GPR35 | - | - | - | - | 1 | Loss | - |
GPR4 | p.W180* | Nonsense | SNP | 0.477 | 2 | - | - |
GPR45 | - | - | - | - | 3 | Gain | - |
GPR55 | - | - | - | - | 1 | Loss | - |
GPR61 | - | - | - | - | 3 | Gain | - |
GPR62 | - | - | - | - | 1 | Loss | - |
GPR75 | - | - | - | - | 1 | Loss | - |
GPR75-ASB3 | - | - | - | - | 1 | Loss | - |
GPR88 | - | - | - | - | 3 | Gain | - |
GPRC5A | - | - | - | - | 1 | Loss | - |
GPRC5C | - | - | - | - | 3 | Gain | - |
GPRC5D | - | - | - | - | 1 | Loss | - |
GPRC6A | p.G325E | Missense | SNP | 0.552 | 2 | - | - |
GPRIN1 | - | - | - | - | 3 | Gain | - |
GPRIN3 | - | - | - | - | 1 | Loss | - |
GPS1 | - | - | - | - | 3 | Gain | - |
GPSM2 | - | - | - | - | 3 | Gain | - |
GPT | - | - | - | - | 3 | Gain | - |
GPX1 | - | - | - | - | 1 | Loss | - |
GPX3 | - | - | - | - | 1 | Loss | - |
GPX6 | p.C32* | Nonsense | SNP | 0.179 | 2 | - | - |
GPX8 | - | - | - | - | 1 | Loss | - |
GRAMD2A | - | - | - | - | 3 | Gain | - |
GRAMD2B | - | - | - | - | 1 | Loss | - |
GRB10 | - | - | - | - | 1 | Loss | - |
GRB14 | - | - | - | - | 1 | Loss | - |
GRB2 | - | - | - | - | 3 | Gain | - |
GREB1 | p.P580S | Missense | SNP | 0.476 | 1 | Loss | - |
GRHL1 | - | - | - | - | 1 | Loss | - |
GRIA1 | - | - | - | - | 1 | Loss | - |
GRIA3 | p.G757E | Missense | SNP | 0.968 | ND | ND | - |
GRIA4 | p.G473R p.M525I | Missense Missense | SNP SNP | 0.580 0.509 | 2 | - | - |
GRID2 | - | - | - | - | 1 | Loss | - |
GRID2IP | - | - | - | - | 1 | Loss | - |
GRIFIN | - | - | - | - | 1 | Loss | - |
GRIK1 | - | - | - | - | 1 | Loss | - |
GRIK3 | p.S347F | Missense | SNP | 0.631 | 2 | - | - |
GRIN2B | - | - | - | - | 1 | Loss | - |
GRIN2C | - | - | - | - | 3 | Gain | - |
GRIN2D | - | - | - | - | 3 | Gain | - |
GRINA | - | - | - | - | 3 | Gain | - |
GRIP2 | - | - | - | - | 1 | Loss | - |
GRK1 | - | - | - | - | 1 | Loss | - |
GRK6 | - | - | - | - | 3 | Gain | - |
GRM2 | - | - | - | - | 1 | Loss | - |
GRM4 | p.P18L | Missense | SNP | 0.417 | 2 | - | - |
GRM5 | p.R78K | Missense | SNP | 0.438 | 2 | - | - |
GRM6 | - | - | - | - | 3 | Gain | - |
GRM7 | - | - | - | - | 1 | Loss | - |
GRM8 | p.E620K p.P533F | Missense Missense | SNP MNP | 0.521 0.474 | 2 | - | - |
GRP | - | - | - | - | 1 | Loss | - |
GRPEL2 | - | - | - | - | 1 | Loss | - |
GRTP1 | - | - | - | - | 1 | Loss | - |
GRWD1 | - | - | - | - | 3 | Gain | - |
GRXCR1 | - | - | - | - | 1 | Loss | - |
GRXCR2 | - | - | - | - | 1 | Loss | - |
GSDMC | - | - | - | - | 3 | Gain | - |
GSDMD | - | - | - | - | 3 | Gain | - |
GSDME | - | - | - | - | 1 | Loss | - |
GSE1 | p.P182S | Missense | SNP | 0.379 | 2 | - | - |
GSG1 | - | - | - | - | 1 | Loss | - |
GSR | - | - | - | - | 1 | Loss | - |
GSTA1 | p.G144K | Missense | MNP | 0.511 | 2 | - | - |
GSTCD | - | - | - | - | 1 | Loss | - |
GSTM2 | - | - | - | - | 3 | Gain | - |
GSTM3 | - | - | - | - | 3 | Gain | - |
GSTM4 | - | - | - | - | 3 | Gain | - |
GSTM5 | - | - | - | - | 3 | Gain | - |
GTDC1 | - | - | - | - | 1 | Loss | - |
GTF2A1L | - | - | - | - | 1 | Loss | - |
GTF2A2 | - | - | - | - | 3 | Gain | - |
GTF2E2 | - | - | - | - | 1 | Loss | - |
GTF2F2 | - | - | - | - | 1 | Loss | - |
GTF2H1 | - | - | - | - | 1 | Loss | - |
GTF2H2 | - | - | - | - | 1 | Loss | - |
GTF2H2C | - | - | - | - | 1 | Loss | - |
GTF2IRD1 | p.P622L | Missense | SNP | 0.282 | 2 | - | - |
GTF3C2 | - | - | - | - | 1 | Loss | - |
GTF3C3 | - | - | - | - | 1 | Loss | - |
GTPBP4 | - | - | - | - | 1 | Loss | - |
GTSE1 | - | - | - | - | 1 | Loss | - |
GTSF1 | p.R38S | Missense | SNP | 0.514 | 2 | - | - |
GUCY1A2 | p.S336N | Missense | SNP | 0.475 | 2 | - | - |
GUCY1A3 | p.F335S | Missense | SNP | 0.604 | ND | ND | - |
GUCY2C | - | - | - | - | 1 | Loss | - |
GUCY2F | p.G255R p.G122E | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
GUF1 | - | - | - | - | 1 | Loss | - |
GULP1 | - | - | - | - | 1 | Loss | - |
GXYLT2 | - | - | - | - | 1 | Loss | - |
GYPC | - | - | - | - | 3 | Gain | - |
GYS1 | - | - | - | - | 3 | Gain | - |
GYS2 | - | - | - | - | 1 | Loss | - |
GZMA | - | - | - | - | 1 | Loss | - |
GZMK | - | - | - | - | 1 | Loss | - |
H2AFJ | - | - | - | - | 1 | Loss | - |
H2AFV | - | - | - | - | 1 | Loss | - |
H2AFY | - | - | - | - | 1 | Loss | - |
H2AFZ | - | - | - | - | 1 | Loss | - |
H2BFS | - | - | - | - | 1 | Loss | - |
H3F3B | - | - | - | - | 3 | Gain | - |
HAAO | - | - | - | - | 1 | Loss | - |
HACD1 | - | - | - | - | 1 | Loss | - |
HACD3 | - | - | - | - | 3 | Gain | - |
HACE1 | p.E746V | Missense | SNP | 0.616 | 2 | - | - |
HACL1 | - | - | - | - | 1 | Loss | - |
HADH | - | - | - | - | 1 | Loss | - |
HADHA | - | - | - | - | 1 | Loss | - |
HADHB | - | - | - | - | 1 | Loss | - |
HAND1 | - | - | - | - | 1 | Loss | - |
HAO2 | - | - | - | - | 3 | Gain | - |
HAPLN1 | - | - | - | - | 1 | Loss | - |
HAPLN3 | - | - | - | - | 3 | Gain | - |
HARS | p.D364N | Missense | SNP | 0.605 | 1 | Loss | - |
HARS2 | - | - | - | - | 1 | Loss | - |
HAS1 | - | - | - | - | 3 | Gain | - |
HAS3 | p.E544K | Missense | SNP | 0.443 | 2 | - | - |
HAT1 | - | - | - | - | 1 | Loss | - |
HAUS1 | - | - | - | - | 1 | Loss | - |
HAUS2 | - | - | - | - | 1 | Loss | - |
HAVCR1 | - | - | - | - | 1 | Loss | - |
HAVCR2 | - | - | - | - | 1 | Loss | - |
HBB | - | - | - | - | 1 | Loss | - |
HBD | - | - | - | - | 1 | Loss | - |
HBE1 | - | - | - | - | 1 | Loss | - |
HBEGF | - | - | - | - | 1 | Loss | - |
HBG1 | - | - | - | - | 1 | Loss | - |
HBG2 | - | - | - | - | 1 | Loss | - |
HBS1L | p.P414S | Missense | SNP | 0.365 | 2 | - | - |
HCN3 | p.E121K | Missense | SNP | 0.606 | 2 | - | - |
HCN4 | - | - | - | - | 3 | Gain | - |
HDAC11 | - | - | - | - | 1 | Loss | - |
HDAC3 | - | - | - | - | 1 | Loss | - |
HDAC4 | - | - | - | - | 1 | Loss | - |
HDAC9 | - | - | - | - | 1 | Loss | - |
HDC | - | - | - | - | 1 | Loss | - |
HDDC3 | - | - | - | - | 3 | Gain | - |
HDGFL3 | - | - | - | - | 3 | Gain | - |
HDHD2 | - | - | - | - | 1 | Loss | - |
HDLBP | - | - | - | - | 1 | Loss | - |
HEATR5B | - | - | - | - | 1 | Loss | - |
HEATR6 | - | - | - | - | 3 | Gain | - |
HEBP1 | - | - | - | - | 1 | Loss | - |
HECTD4 | p.R4132W | Missense | SNP | 0.448 | 2 | - | - |
HECW1 | - | - | - | - | 1 | Loss | - |
HECW2 | - | - | - | - | 1 | Loss | - |
HELQ | - | - | - | - | 1 | Loss | - |
HELZ | p.L507F | Missense | SNP | 0.488 | 3 | Gain | - |
HELZ2 | - | - | - | - | 3 | Gain | - |
HEMK1 | - | - | - | - | 1 | Loss | - |
HENMT1 | - | - | - | - | 3 | Gain | - |
HERC1 | - | - | - | - | 3 | Gain | - |
HERC3 | - | - | - | - | 1 | Loss | - |
HERC5 | - | - | - | - | 1 | Loss | - |
HERC6 | - | - | - | - | 1 | Loss | - |
HERPUD2 | - | - | - | - | 1 | Loss | - |
HES6 | - | - | - | - | 1 | Loss | - |
HESX1 | - | - | - | - | 1 | Loss | - |
HEXA | - | - | - | - | 3 | Gain | - |
HEXB | - | - | - | - | 1 | Loss | - |
HEXDC | - | - | - | - | 3 | Gain | - |
HFM1 | p.E1409K p.L11S | Missense Missense | SNP SNP | 0.318 0.558 | 3 | Gain | - |
HGH1 | - | - | - | - | 3 | Gain | - |
HGS | - | - | - | - | 3 | Gain | - |
HHATL | - | - | - | - | 1 | Loss | - |
HHIPL2 | p.S375F | Missense | SNP | 0.629 | 2 | - | - |
HHLA1 | - | - | - | - | 3 | Gain | - |
HHLA2 | p.E186K | Missense | SNP | 0.481 | 2 | - | - |
HIBADH | - | - | - | - | 1 | Loss | - |
HIBCH | - | - | - | - | 1 | Loss | - |
HID1 | p.V437M | Missense | SNP | 0.529 | 3 | Gain | - |
HIF1A | p.P619S | Missense | SNP | 0.556 | 2 | - | - |
HIGD2A | - | - | - | - | 3 | Gain | - |
HIGD2B | - | - | - | - | 3 | Gain | - |
HINT1 | - | - | - | - | 1 | Loss | - |
HIPK1 | - | - | - | - | 3 | Gain | - |
HIPK2 | p.P444S | Missense | SNP | 0.277 | 2 | - | - |
HIPK3 | - | - | - | - | 1 | Loss | - |
HIRA | p.P965S | Missense | SNP | 0.398 | 2 | - | - |
HIST1H3G | p.E60K | Missense | SNP | 0.715 | 2 | - | - |
HIST4H4 | - | - | - | - | 1 | Loss | - |
HIVEP2 | p.P1422S | Missense | SNP | 0.413 | 2 | - | - |
HJURP | - | - | - | - | 1 | Loss | - |
HK2 | - | - | - | - | 1 | Loss | - |
HK3 | - | - | - | - | 3 | Gain | - |
HKDC1 | p.D521N | Missense | SNP | 0.618 | 2 | - | - |
HLCS | - | - | - | - | 1 | Loss | - |
HLTF | p.T900S p.G299S | Missense Missense | SNP SNP | 0.384 0.667 | 2 | - | - |
HMBOX1 | - | - | - | - | 1 | Loss | - |
HMCN1 | p.L364F | Missense | SNP | 0.516 | 3 | Gain | - |
HMCN2 | p.P1386S | Missense | SNP | 1.000 | 2 | - | - |
HMG20A | - | - | - | - | 3 | Gain | - |
HMGB1 | - | - | - | - | 1 | Loss | - |
HMGCR | - | - | - | - | 1 | Loss | - |
HMGCS2 | - | - | - | - | 3 | Gain | - |
HMGN1 | - | - | - | - | 1 | Loss | - |
HMGXB3 | p.P346S | Missense | SNP | 0.587 | 1 | Loss | - |
HMHB1 | - | - | - | - | 1 | Loss | - |
HMMR | - | - | - | - | 3 | Gain | - |
HMSD | - | - | - | - | 1 | Loss | - |
HNMT | - | - | - | - | 1 | Loss | - |
HNRNPA0 | - | - | - | - | 1 | Loss | - |
HNRNPA1 | - | - | - | - | 2 | - | RNA5-8SN2--HNRNPA1 |
HNRNPA2B1 | - | - | - | - | 1 | Loss | - |
HNRNPA3 | - | - | - | - | 1 | Loss | - |
HNRNPAB | - | - | - | - | 3 | Gain | - |
HNRNPD | - | - | - | - | 1 | Loss | - |
HNRNPDL | - | - | - | - | 1 | Loss | - |
HNRNPH1 | - | - | - | - | 3 | Gain | - |
HNRNPLL | - | - | - | - | 1 | Loss | - |
HNRNPR | p.R232C | Missense | SNP | 0.526 | 2 | - | - |
HNRNPUL1 | p.S244L p.P370S | Missense Missense | SNP SNP | 0.548 0.412 | 2 | - | - |
HNRNPUL2 | p.P99S | Missense | SNP | 0.639 | 2 | - | - |
HOMER1 | - | - | - | - | 1 | Loss | - |
HOMER2 | - | - | - | - | 3 | Gain | - |
HOPX | p.P89L | Missense | SNP | 0.481 | 2 | - | - |
HOXA1 | - | - | - | - | 1 | Loss | - |
HOXA10 | - | - | - | - | 1 | Loss | - |
HOXA11 | - | - | - | - | 1 | Loss | - |
HOXA13 | - | - | - | - | 1 | Loss | - |
HOXA2 | - | - | - | - | 1 | Loss | - |
HOXA3 | - | - | - | - | 1 | Loss | - |
HOXA4 | - | - | - | - | 1 | Loss | - |
HOXA5 | - | - | - | - | 1 | Loss | - |
HOXA6 | - | - | - | - | 1 | Loss | - |
HOXA7 | - | - | - | - | 1 | Loss | - |
HOXA9 | - | - | - | - | 1 | Loss | - |
HOXB9 | p.P29F | Missense | MNP | 0.485 | 2 | - | - |
HOXD1 | - | - | - | - | 1 | Loss | - |
HOXD10 | - | - | - | - | 1 | Loss | - |
HOXD11 | - | - | - | - | 1 | Loss | - |
HOXD12 | - | - | - | - | 1 | Loss | - |
HOXD13 | - | - | - | - | 1 | Loss | - |
HOXD3 | - | - | - | - | 1 | Loss | - |
HOXD4 | - | - | - | - | 1 | Loss | - |
HOXD8 | - | - | - | - | 1 | Loss | - |
HOXD9 | - | - | - | - | 1 | Loss | - |
HPCAL1 | - | - | - | - | 1 | Loss | - |
HPGDS | - | - | - | - | 1 | Loss | - |
HPS5 | - | - | - | - | 1 | Loss | - |
HPSE | - | - | - | - | 1 | Loss | - |
HPX | - | - | - | - | 1 | Loss | - |
HR | - | - | - | - | 1 | Loss | - |
HRAS | - | - | - | - | 1 | Loss | - |
HRC | - | - | - | - | 3 | Gain | - |
HRG | p.D146N | Missense | SNP | 0.558 | 2 | - | - |
HRH1 | - | - | - | - | 1 | Loss | - |
HRH2 | - | - | - | - | 3 | Gain | - |
HRH4 | p.F169L p.S351F | Missense Missense | SNP SNP | 0.440 0.261 | 2 | - | - |
HRNR | p.G2277S | Missense | SNP | 0.107 | 3 | Gain | - |
HS1BP3 | - | - | - | - | 1 | Loss | - |
HS3ST4 | p.P290L p.G366E | Missense Missense | SNP SNP | 0.490 0.468 | 2 | - | - |
HS6ST1 | - | - | - | - | 3 | Gain | - |
HS6ST3 | - | - | - | - | 1 | Loss | - |
HSBP1L1 | - | - | - | - | 1 | Loss | - |
HSD17B11 | - | - | - | - | 1 | Loss | - |
HSD17B13 | - | - | - | - | 1 | Loss | - |
HSD17B14 | - | - | - | - | 3 | Gain | - |
HSD17B4 | - | - | - | - | 1 | Loss | - |
HSD3B1 | - | - | - | - | 3 | Gain | - |
HSD3B2 | - | - | - | - | 3 | Gain | - |
HSD3BP3 | . | Splice_Site | SNP | 0.493 | ND | ND | - |
HSF1 | - | - | - | - | 3 | Gain | - |
HSF2BP | - | - | - | - | 1 | Loss | - |
HSPA14 | - | - | - | - | 1 | Loss | - |
HSPA4 | - | - | - | - | 1 | Loss | - |
HSPA4L | - | - | - | - | 1 | Loss | - |
HSPA9 | - | - | - | - | 1 | Loss | - |
HSPB3 | - | - | - | - | 1 | Loss | - |
HSPB8 | p.S57F | Missense | SNP | 0.404 | 2 | - | - |
HSPBP1 | - | - | - | - | 3 | Gain | - |
HSPD1 | - | - | - | - | 1 | Loss | - |
HSPE1 | - | - | - | - | 1 | Loss | - |
HSPE1-MOB4 | - | - | - | - | 1 | Loss | - |
HSPG2 | p.Q3379* | Nonsense | SNP | 0.324 | 2 | - | - |
HSPH1 | - | - | - | - | 1 | Loss | - |
HTATIP2 | - | - | - | - | 1 | Loss | - |
HTD2 | - | - | - | - | 1 | Loss | - |
HTR1A | - | - | - | - | 1 | Loss | - |
HTR1F | - | - | - | - | 1 | Loss | - |
HTR2A | - | - | - | - | 1 | Loss | - |
HTR2B | - | - | - | - | 1 | Loss | - |
HTR4 | - | - | - | - | 1 | Loss | - |
HTRA2 | - | - | - | - | 1 | Loss | - |
HTT | p.P2603L | Missense | SNP | 0.339 | 2 | - | - |
HUNK | - | - | - | - | 1 | Loss | - |
HUS1 | - | - | - | - | 1 | Loss | - |
HUWE1 | p.R4334C | Missense | SNP | 1.000 | ND | ND | - |
HYAL1 | - | - | - | - | 1 | Loss | - |
HYAL2 | - | - | - | - | 1 | Loss | - |
HYAL3 | - | - | - | - | 1 | Loss | - |
HYDIN | p.E4113K p.V1416A | Missense Missense | SNP SNP | 0.485 0.533 | 2 | - | - |
HYKK | - | - | - | - | 3 | Gain | - |
HYOU1 | p.E403K | Missense | SNP | 0.513 | 2 | - | - |
HYPK | - | - | - | - | 1 | Loss | - |
IAH1 | - | - | - | - | 1 | Loss | - |
IAPP | - | - | - | - | 1 | Loss | - |
IBSP | - | - | - | - | 1 | Loss | - |
ICA1 | p.X301_splice | Splice_Site | SNP | 0.371 | 1 | Loss | - |
ICA1L | - | - | - | - | 1 | Loss | - |
ICAM2 | - | - | - | - | 3 | Gain | - |
ICE2 | - | - | - | - | 1 | Loss | - |
ICOS | - | - | - | - | 1 | Loss | - |
ICOSLG | - | - | - | - | 1 | Loss | - |
ID2 | - | - | - | - | 1 | Loss | - |
IDH1 | - | - | - | - | 1 | Loss | - |
IDH2 | - | - | - | - | 3 | Gain | - |
IDH3A | - | - | - | - | 3 | Gain | - |
IDI1 | - | - | - | - | 1 | Loss | - |
IDI2 | - | - | - | - | 1 | Loss | - |
IER3IP1 | - | - | - | - | 1 | Loss | - |
IFIH1 | - | - | - | - | 1 | Loss | - |
IFITM1 | - | - | - | - | 1 | Loss | - |
IFITM10 | - | - | - | - | 1 | Loss | - |
IFITM2 | - | - | - | - | 1 | Loss | - |
IFITM3 | - | - | - | - | 1 | Loss | - |
IFITM5 | - | - | - | - | 1 | Loss | - |
IFNAR1 | - | - | - | - | 1 | Loss | - |
IFNAR2 | - | - | - | - | 1 | Loss | - |
IFNGR2 | - | - | - | - | 1 | Loss | - |
IFRD2 | - | - | - | - | 1 | Loss | - |
IFT172 | - | - | - | - | 1 | Loss | - |
IFT81 | p.S77L | Missense | SNP | 0.439 | 2 | - | - |
IGDCC3 | - | - | - | - | 3 | Gain | - |
IGDCC4 | - | - | - | - | 3 | Gain | - |
IGF1R | - | - | - | - | 3 | Gain | - |
IGF2 | - | - | - | - | 1 | Loss | - |
IGF2BP2 | p.G598E | Missense | SNP | 0.511 | 2 | - | - |
IGF2BP3 | - | - | - | - | 1 | Loss | - |
IGFBP1 | - | - | - | - | 1 | Loss | - |
IGFBP2 | - | - | - | - | 1 | Loss | - |
IGFBP3 | - | - | - | - | 1 | Loss | - |
IGFBP5 | - | - | - | - | 1 | Loss | - |
IGFN1 | p.K1959E p.P3227S | Missense Missense | SNP SNP | 0.078 0.591 | 2 | - | - |
IGHV1-46 | p.S40F | Missense | SNP | 0.365 | ND | ND | - |
IGHV3-23 | p.D109N | Missense | SNP | 0.272 | ND | ND | - |
IGIP | - | - | - | - | 1 | Loss | - |
IGKV1-33 | - | - | - | - | 1 | Loss | - |
IGKV1D-33 | - | - | - | - | 1 | Loss | - |
IGKV2-40 | - | - | - | - | 1 | Loss | - |
IGKV2D-28 | - | - | - | - | 1 | Loss | - |
IGKV2D-29 | - | - | - | - | 1 | Loss | - |
IGKV2D-40 | - | - | - | - | 1 | Loss | - |
IGLON5 | - | - | - | - | 3 | Gain | - |
IGLV3-32 | p.D67N | Missense | SNP | 0.384 | ND | ND | - |
IGLV6-57 | p.K35Q | Missense | SNP | 0.438 | ND | ND | - |
IGSF10 | p.P1082S | Missense | SNP | 0.479 | 2 | - | - |
IGSF11 | p.R394K | Missense | SNP | 0.496 | 2 | - | - |
IGSF22 | - | - | - | - | 1 | Loss | - |
IGSF23 | . | Splice_Site | SNP | 0.500 | 2 | - | - |
IGSF3 | - | - | - | - | 3 | Gain | - |
IGSF5 | - | - | - | - | 1 | Loss | - |
IGSF9B | p.N329S | Missense | SNP | 0.667 | 2 | - | - |
IHH | - | - | - | - | 1 | Loss | - |
IK | - | - | - | - | 1 | Loss | - |
IKZF1 | - | - | - | - | 1 | Loss | - |
IKZF2 | - | - | - | - | 1 | Loss | - |
IL10RB | - | - | - | - | 1 | Loss | - |
IL11 | - | - | - | - | 3 | Gain | - |
IL12B | - | - | - | - | 3 | Gain | - |
IL13 | - | - | - | - | 1 | Loss | - |
IL15RA | - | - | - | - | 1 | Loss | - |
IL16 | p.E263K | Missense | SNP | 0.600 | 3 | Gain | - |
IL17B | - | - | - | - | 1 | Loss | - |
IL17RB | - | - | - | - | 1 | Loss | - |
IL17RC | - | - | - | - | 1 | Loss | - |
IL17RD | - | - | - | - | 1 | Loss | - |
IL17RE | - | - | - | - | 1 | Loss | - |
IL18R1 | - | - | - | - | 3 | Gain | - |
IL18RAP | - | - | - | - | 3 | Gain | - |
IL1A | - | - | - | - | 3 | Gain | - |
IL1B | - | - | - | - | 3 | Gain | - |
IL1F10 | - | - | - | - | 3 | Gain | - |
IL1R1 | - | - | - | - | 3 | Gain | - |
IL1R2 | - | - | - | - | 3 | Gain | - |
IL1RAPL1 | p.S146F | Missense | SNP | 0.989 | ND | ND | - |
IL1RL1 | - | - | - | - | 3 | Gain | - |
IL1RL2 | - | - | - | - | 3 | Gain | - |
IL1RN | - | - | - | - | 3 | Gain | - |
IL2 | - | - | - | - | 1 | Loss | - |
IL21 | - | - | - | - | 1 | Loss | - |
IL2RA | - | - | - | - | 1 | Loss | - |
IL3 | - | - | - | - | 1 | Loss | - |
IL31RA | - | - | - | - | 1 | Loss | - |
IL36A | - | - | - | - | 3 | Gain | - |
IL36B | - | - | - | - | 3 | Gain | - |
IL36G | - | - | - | - | 3 | Gain | - |
IL36RN | - | - | - | - | 3 | Gain | - |
IL37 | - | - | - | - | 3 | Gain | - |
IL4 | - | - | - | - | 1 | Loss | - |
IL4I1 | - | - | - | - | 3 | Gain | - |
IL5 | - | - | - | - | 1 | Loss | - |
IL5RA | - | - | - | - | 1 | Loss | - |
IL6 | - | - | - | - | 1 | Loss | - |
IL6ST | - | - | - | - | 1 | Loss | - |
IL9 | - | - | - | - | 1 | Loss | - |
ILDR1 | p.E445K | Missense | SNP | 0.545 | 2 | - | - |
ILDR2 | p.R101* | Nonsense | SNP | 0.384 | 2 | - | - |
ILK | - | - | - | - | 1 | Loss | - |
ILKAP | - | - | - | - | 1 | Loss | - |
IMMP1L | - | - | - | - | 1 | Loss | - |
IMMT | - | - | - | - | 1 | Loss | - |
IMP3 | - | - | - | - | 3 | Gain | - |
IMPA2 | - | - | - | - | 1 | Loss | - |
IMPDH2 | - | - | - | - | 1 | Loss | - |
ING1 | - | - | - | - | 1 | Loss | - |
ING5 | - | - | - | - | 1 | Loss | - |
INHA | - | - | - | - | 1 | Loss | - |
INHBA | p.D414N | Missense | SNP | 0.389 | 1 | Loss | - |
INHBB | - | - | - | - | 3 | Gain | - |
INKA1 | - | - | - | - | 1 | Loss | - |
INKA2 | - | - | - | - | 3 | Gain | - |
INMT | - | - | - | - | 21 | Amp | - |
INMT-MINDY4 | - | - | - | - | 21 | Amp | - |
INO80 | - | - | - | - | 1 | Loss | - |
INO80B | - | - | - | - | 1 | Loss | - |
INO80B-WBP1 | - | - | - | - | 1 | Loss | - |
INO80C | - | - | - | - | 1 | Loss | - |
INO80D | - | - | - | - | 1 | Loss | - |
INPP1 | - | - | - | - | 1 | Loss | - |
INPP4A | - | - | - | - | 3 | Gain | - |
INPP4B | - | - | - | - | 1 | Loss | - |
INPP5A | p.X216_splice | Splice_Site | SNP | 0.297 | 3 | Gain | - |
INPP5D | - | - | - | - | 1 | Loss | - |
INS | - | - | - | - | 1 | Loss | - |
INS-IGF2 | - | - | - | - | 1 | Loss | - |
INSC | p.E103K | Missense | SNP | 1.000 | 1 | Loss | - |
INSIG2 | - | - | - | - | 3 | Gain | - |
INSYN1 | - | - | - | - | 3 | Gain | - |
INSYN2 | - | - | - | - | 3 | Gain | - |
INSYN2B | - | - | - | - | 3 | Gain | - |
INTS1 | - | - | - | - | 1 | Loss | - |
INTS10 | - | - | - | - | 1 | Loss | - |
INTS12 | - | - | - | - | 1 | Loss | - |
INTS14 | - | - | - | - | 3 | Gain | - |
INTS2 | - | - | - | - | 3 | Gain | - |
INTS6 | - | - | - | - | 1 | Loss | - |
INTS9 | - | - | - | - | 1 | Loss | - |
INTU | - | - | - | - | 1 | Loss | - |
IP6K1 | - | - | - | - | 1 | Loss | - |
IP6K2 | - | - | - | - | 1 | Loss | - |
IPO11 | - | - | - | - | 1 | Loss | - |
IPO4 | p.H156Y | Missense | SNP | 0.516 | 2 | - | - |
IPO5 | - | - | - | - | 1 | Loss | - |
IPO7 | - | - | - | - | 1 | Loss | - |
IPO9 | p.T102A | Missense | SNP | 0.481 | 2 | - | - |
IPP | p.L192P | Missense | SNP | 0.632 | 2 | - | - |
IQANK1 | - | - | - | - | 3 | Gain | - |
IQCA1 | - | - | - | - | 1 | Loss | - |
IQCE | - | - | - | - | 1 | Loss | - |
IQCF1 | - | - | - | - | 1 | Loss | - |
IQCF2 | p.R4* | Nonsense | SNP | 1.000 | 1 | Loss | - |
IQCF3 | - | - | - | - | 1 | Loss | - |
IQCF5 | - | - | - | - | 1 | Loss | - |
IQCF6 | - | - | - | - | 1 | Loss | - |
IQCH | - | - | - | - | 3 | Gain | - |
IQGAP1 | - | - | - | - | 3 | Gain | - |
IQGAP2 | p.S621C | Missense | SNP | 0.306 | 1 | Loss | - |
IQSEC1 | - | - | - | - | 1 | Loss | - |
IRAK2 | - | - | - | - | 1 | Loss | - |
IREB2 | - | - | - | - | 3 | Gain | - |
IRF1 | - | - | - | - | 1 | Loss | - |
IRF3 | - | - | - | - | 3 | Gain | - |
IRF7 | - | - | - | - | 1 | Loss | - |
IRGM | - | - | - | - | 1 | Loss | - |
IRS1 | - | - | - | - | 1 | Loss | - |
IRS2 | - | - | - | - | 1 | Loss | - |
IRX2 | p.P347S | Missense | SNP | 0.512 | 2 | - | - |
ISG20 | - | - | - | - | 3 | Gain | - |
ISL1 | - | - | - | - | 1 | Loss | - |
ISL2 | - | - | - | - | 3 | Gain | - |
ISLR | - | - | - | - | 3 | Gain | - |
ISLR2 | - | - | - | - | 3 | Gain | - |
ISOC1 | - | - | - | - | 1 | Loss | - |
ISOC2 | - | - | - | - | 3 | Gain | - |
ISPD | - | - | - | - | 1 | Loss | - |
ITCH | p.P250L | Missense | SNP | 0.526 | 2 | - | - |
ITGA1 | - | - | - | - | 1 | Loss | - |
ITGA11 | - | - | - | - | 3 | Gain | - |
ITGA2 | - | - | - | - | 1 | Loss | - |
ITGA4 | - | - | - | - | 1 | Loss | - |
ITGA6 | - | - | - | - | 1 | Loss | - |
ITGA8 | - | - | - | - | 1 | Loss | - |
ITGA9 | - | - | - | - | 1 | Loss | - |
ITGAL | p.Q564* | Nonsense | SNP | 0.534 | 2 | - | - |
ITGAV | - | - | - | - | 1 | Loss | - |
ITGB1 | - | - | - | - | 1 | Loss | - |
ITGB1BP1 | - | - | - | - | 1 | Loss | - |
ITGB2 | - | - | - | - | 1 | Loss | - |
ITGB4 | - | - | - | - | 3 | Gain | - |
ITGB6 | - | - | - | - | 1 | Loss | - |
ITGB8 | - | - | - | - | 1 | Loss | - |
ITGBL1 | - | - | - | - | 1 | Loss | - |
ITIH1 | - | - | - | - | 1 | Loss | - |
ITIH2 | - | - | - | - | 1 | Loss | - |
ITIH3 | p.G873R | Missense | SNP | 0.982 | 1 | Loss | - |
ITIH4 | - | - | - | - | 1 | Loss | - |
ITIH5 | - | - | - | - | 1 | Loss | - |
ITIH6 | p.T632I | Missense | SNP | 1.000 | ND | ND | - |
ITK | - | - | - | - | 1 | Loss | - |
ITLN1 | p.P111S | Missense | SNP | 0.500 | 2 | - | - |
ITM2B | - | - | - | - | 1 | Loss | - |
ITM2C | - | - | - | - | 1 | Loss | - |
ITPKA | - | - | - | - | 1 | Loss | - |
ITPKC | p.G562E | Missense | SNP | 0.286 | 2 | - | - |
ITPR1 | - | - | - | - | 1 | Loss | - |
ITPR3 | p.P1707L | Missense | SNP | 0.577 | 2 | - | - |
ITPRID1 | - | - | - | - | 1 | Loss | - |
ITPRID2 | - | - | - | - | 1 | Loss | - |
ITPRIPL1 | - | - | - | - | 3 | Gain | - |
ITSN1 | - | - | - | - | 1 | Loss | - |
ITSN2 | - | - | - | - | 1 | Loss | - |
IVD | - | - | - | - | 1 | Loss | - |
IVL | p.Q348K | Missense | SNP | 0.571 | 2 | - | - |
IVNS1ABP | - | - | - | - | 3 | Gain | - |
IWS1 | - | - | - | - | 3 | Gain | - |
IZUMO1 | - | - | - | - | 3 | Gain | - |
IZUMO1R | p.S193F | Missense | SNP | 0.452 | 2 | - | - |
IZUMO2 | - | - | - | - | 3 | Gain | - |
JADE2 | - | - | - | - | 1 | Loss | - |
JAG2 | p.X476_splice | Splice_Site | SNP | 0.435 | 2 | - | - |
JAGN1 | - | - | - | - | 1 | Loss | - |
JAKMIP2 | p.X644_splice | Splice_Site | SNP | 0.333 | 1 | Loss | - |
JAKMIP3 | p.E331Q | Missense | SNP | 0.217 | 3 | Gain | - |
JAM2 | - | - | - | - | 1 | Loss | - |
JAZF1 | - | - | - | - | 1 | Loss | - |
JCAD | - | - | - | - | 1 | Loss | - |
JMJD6 | p.P330L | Missense | SNP | 0.522 | 3 | Gain | - |
JMJD7 | - | - | - | - | 1 | Loss | - |
JMJD7-PLA2G4B | - | - | - | - | 1 | Loss | - |
JMY | - | - | - | - | 1 | Loss | - |
JOSD2 | - | - | - | - | 3 | Gain | - |
JPT1 | - | - | - | - | 3 | Gain | - |
JRK | - | - | - | - | 3 | Gain | - |
JUNB | p.P165S | Missense | SNP | 0.554 | 2 | - | - |
KANSL1L | - | - | - | - | 1 | Loss | - |
KANSL3 | p.P793S | Missense | SNP | 0.482 | 3 | Gain | - |
KAT2B | - | - | - | - | 1 | Loss | - |
KATNAL1 | - | - | - | - | 1 | Loss | - |
KATNAL2 | - | - | - | - | 1 | Loss | - |
KAZN | p.E55K | Missense | SNP | 0.671 | 2 | - | - |
KBTBD11 | - | - | - | - | 1 | Loss | - |
KBTBD11-OT1 | - | - | - | - | 1 | Loss | - |
KBTBD13 | - | - | - | - | 3 | Gain | - |
KBTBD2 | - | - | - | - | 1 | Loss | - |
KBTBD6 | - | - | - | - | 1 | Loss | - |
KBTBD7 | - | - | - | - | 1 | Loss | - |
KBTBD8 | - | - | - | - | 1 | Loss | - |
KCMF1 | - | - | - | - | 1 | Loss | - |
KCNA10 | - | - | - | - | 3 | Gain | - |
KCNA2 | - | - | - | - | 3 | Gain | - |
KCNA3 | p.E183K | Missense | SNP | 0.541 | 3 | Gain | - |
KCNA4 | - | - | - | - | 1 | Loss | - |
KCNA7 | - | - | - | - | 3 | Gain | - |
KCNB2 | p.K563* | Nonsense | SNP | 0.403 | 2 | - | - |
KCNC1 | - | - | - | - | 1 | Loss | - |
KCNC3 | - | - | - | - | 3 | Gain | - |
KCNC4 | - | - | - | - | 3 | Gain | - |
KCND2 | p.D151N p.E323K | Missense Missense | SNP SNP | 0.548 0.703 | 2 | - | - |
KCND3 | p.S162L | Missense | SNP | 0.508 | 3 | Gain | - |
KCNE1 | - | - | - | - | 1 | Loss | - |
KCNE2 | - | - | - | - | 1 | Loss | - |
KCNE4 | - | - | - | - | 1 | Loss | - |
KCNF1 | - | - | - | - | 1 | Loss | - |
KCNG1 | p.E158K | Missense | SNP | 0.596 | 2 | - | - |
KCNG2 | - | - | - | - | 1 | Loss | - |
KCNG3 | - | - | - | - | 1 | Loss | - |
KCNH3 | p.G708R | Missense | SNP | 0.506 | 2 | - | - |
KCNH6 | - | - | - | - | 3 | Gain | - |
KCNH7 | p.E810K | Missense | SNP | 1.000 | 1 | Loss | - |
KCNH8 | - | - | - | - | 1 | Loss | - |
KCNIP1 | - | - | - | - | 3 | Gain | - |
KCNIP3 | - | - | - | - | 3 | Gain | - |
KCNJ11 | - | - | - | - | 1 | Loss | - |
KCNJ12 | p.R428K | Missense | SNP | 0.217 | 2 | - | - |
KCNJ13 | - | - | - | - | 1 | Loss | - |
KCNJ14 | - | - | - | - | 3 | Gain | - |
KCNJ15 | - | - | - | - | 1 | Loss | - |
KCNJ16 | - | - | - | - | 3 | Gain | - |
KCNJ2 | - | - | - | - | 3 | Gain | - |
KCNJ3 | - | - | - | - | 1 | Loss | - |
KCNJ6 | - | - | - | - | 1 | Loss | - |
KCNJ8 | - | - | - | - | 1 | Loss | - |
KCNK12 | - | - | - | - | 1 | Loss | - |
KCNK3 | - | - | - | - | 1 | Loss | - |
KCNK9 | p.P281L | Missense | SNP | 0.316 | 3 | Gain | - |
KCNMB1 | - | - | - | - | 3 | Gain | - |
KCNN2 | - | - | - | - | 1 | Loss | - |
KCNQ1 | - | - | - | - | 1 | Loss | - |
KCNQ3 | p.S664F | Missense | SNP | 0.590 | 3 | Gain | - |
KCNRG | - | - | - | - | 1 | Loss | - |
KCNS2 | p.G234S | Missense | SNP | 0.502 | 2 | - | - |
KCNS3 | - | - | - | - | 1 | Loss | - |
KCNT2 | p.R1117Q p.G915R | Missense Missense | SNP SNP | 0.578 0.491 | 3 | Gain | - |
KCNU1 | - | - | - | - | 1 | Loss | - |
KCTD12 | - | - | - | - | 1 | Loss | - |
KCTD16 | - | - | - | - | 1 | Loss | - |
KCTD18 | - | - | - | - | 1 | Loss | - |
KCTD2 | - | - | - | - | 3 | Gain | - |
KCTD4 | - | - | - | - | 1 | Loss | - |
KCTD6 | - | - | - | - | 1 | Loss | - |
KCTD8 | - | - | - | - | 1 | Loss | - |
KCTD9 | - | - | - | - | 1 | Loss | - |
KDELC1 | - | - | - | - | 1 | Loss | - |
KDELR1 | - | - | - | - | 3 | Gain | - |
KDELR2 | p.V65L | Missense | SNP | 0.364 | 1 | Loss | - |
KDF1 | - | - | - | - | 1 | Loss | - |
KDM3A | - | - | - | - | 1 | Loss | - |
KDM3B | - | - | - | - | 1 | Loss | - |
KDM4E | p.E226K | Missense | SNP | 0.507 | 2 | - | - |
KDM5B | - | - | - | - | 1 | Loss | - |
KDSR | - | - | - | - | 1 | Loss | - |
KHDRBS3 | - | - | - | - | 3 | Gain | - |
KHK | - | - | - | - | 1 | Loss | - |
KIAA0825 | - | - | - | - | 1 | Loss | - |
KIAA0895 | - | - | - | - | 1 | Loss | - |
KIAA1024 | - | - | - | - | 3 | Gain | - |
KIAA1024L | - | - | - | - | 1 | Loss | - |
KIAA1109 | - | - | - | - | 1 | Loss | - |
KIAA1143 | - | - | - | - | 1 | Loss | - |
KIAA1191 | - | - | - | - | 3 | Gain | - |
KIAA1210 | p.R523W | Missense | SNP | 1.000 | ND | ND | - |
KIAA1211 | p.E209K | Missense | SNP | 0.463 | 2 | - | - |
KIAA1211L | - | - | - | - | 3 | Gain | - |
KIAA1217 | - | - | - | - | 1 | Loss | - |
KIAA1324 | p.G346E | Missense | SNP | 0.375 | 3 | Gain | - |
KIAA1324L | p.G431E | Missense | SNP | 0.352 | 2 | - | - |
KIAA1328 | p.S451L | Missense | SNP | 0.602 | 1 | Loss | - |
KIAA1468 | p.G121C | Missense | SNP | 0.605 | ND | ND | - |
KIAA1549 | p.P1475S | Missense | SNP | 0.500 | 2 | - | - |
KIAA1549L | - | - | - | - | 1 | Loss | - |
KIAA1841 | - | - | - | - | 1 | Loss | - |
KIAA2012 | - | - | - | - | 1 | Loss | - |
KIDINS220 | - | - | - | - | 1 | Loss | - |
KIF13B | - | - | - | - | 1 | Loss | - |
KIF14 | - | - | - | - | 3 | Gain | - |
KIF15 | - | - | - | - | 1 | Loss | - |
KIF18A | - | - | - | - | 1 | Loss | - |
KIF19 | p.P755S | Missense | SNP | 0.399 | 3 | Gain | - |
KIF1A | - | - | - | - | 1 | Loss | - |
KIF20A | - | - | - | - | 1 | Loss | - |
KIF20B | p.I944V | Missense | SNP | 0.596 | 2 | - | - |
KIF21A | p.L759F | Missense | SNP | 0.379 | 2 | - | - |
KIF21B | p.S516F | Missense | SNP | 0.366 | 2 | - | - |
KIF22 | p.S452F | Missense | SNP | 0.485 | 2 | - | - |
KIF23 | - | - | - | - | 3 | Gain | - |
KIF24 | p.P754Q | Missense | SNP | 0.995 | 2 | - | - |
KIF2A | p.S107L | Missense | SNP | 0.667 | 1 | Loss | - |
KIF3A | - | - | - | - | 1 | Loss | - |
KIF3C | - | - | - | - | 1 | Loss | - |
KIF4B | - | - | - | - | 1 | Loss | - |
KIF5A | p.G44E | Missense | SNP | 0.490 | 2 | - | - |
KIF5B | - | - | - | - | 1 | Loss | - |
KIF5C | - | - | - | - | 1 | Loss | - |
KIF7 | p.D1267N | Missense | SNP | 0.507 | 3 | Gain | - |
KIF9 | - | - | - | - | 1 | Loss | - |
KIFC2 | - | - | - | - | 3 | Gain | - |
KIN | - | - | - | - | 1 | Loss | - |
KIR2DL1 | - | - | - | - | 3 | Gain | - |
KIR2DL3 | p.G193E | Missense | SNP | 0.291 | 3 | Gain | - |
KIR2DL4 | - | - | - | - | 3 | Gain | - |
KIR3DL1 | - | - | - | - | 3 | Gain | - |
KIR3DL2 | - | - | - | - | 3 | Gain | - |
KIR3DL3 | - | - | - | - | 3 | Gain | - |
KIR3DX1 | p.H174Y | Missense | SNP | 0.326 | ND | ND | - |
KIT | p.W246* | Nonsense | SNP | 0.400 | 2 | - | - |
KL | - | - | - | - | 1 | Loss | - |
KLB | - | - | - | - | 1 | Loss | - |
KLF11 | - | - | - | - | 1 | Loss | - |
KLF12 | - | - | - | - | 1 | Loss | - |
KLF3 | - | - | - | - | 1 | Loss | - |
KLF5 | - | - | - | - | 1 | Loss | - |
KLF6 | - | - | - | - | 1 | Loss | - |
KLF7 | - | - | - | - | 1 | Loss | - |
KLHDC8B | - | - | - | - | 1 | Loss | - |
KLHL1 | - | - | - | - | 1 | Loss | - |
KLHL10 | - | - | - | - | 1 | Loss | - |
KLHL11 | - | - | - | - | 1 | Loss | - |
KLHL13 | p.H484Y | Missense | SNP | 1.000 | ND | ND | - |
KLHL14 | p.E540K | Missense | SNP | 0.692 | 1 | Loss | - |
KLHL18 | - | - | - | - | 1 | Loss | - |
KLHL23 | - | - | - | - | 1 | Loss | - |
KLHL25 | - | - | - | - | 3 | Gain | - |
KLHL29 | - | - | - | - | 1 | Loss | - |
KLHL3 | - | - | - | - | 1 | Loss | - |
KLHL30 | - | - | - | - | 1 | Loss | - |
KLHL35 | p.S369Y | Missense | SNP | 0.471 | 2 | - | - |
KLHL40 | - | - | - | - | 1 | Loss | - |
KLHL41 | - | - | - | - | 1 | Loss | - |
KLHL5 | - | - | - | - | 1 | Loss | - |
KLHL7 | - | - | - | - | 1 | Loss | - |
KLHL8 | - | - | - | - | 1 | Loss | - |
KLK1 | - | - | - | - | 3 | Gain | - |
KLK10 | - | - | - | - | 3 | Gain | - |
KLK11 | - | - | - | - | 3 | Gain | - |
KLK12 | - | - | - | - | 3 | Gain | - |
KLK13 | - | - | - | - | 3 | Gain | - |
KLK14 | - | - | - | - | 3 | Gain | - |
KLK15 | p.V214I | Missense | SNP | 0.351 | 3 | Gain | - |
KLK2 | - | - | - | - | 3 | Gain | - |
KLK3 | - | - | - | - | 3 | Gain | - |
KLK4 | - | - | - | - | 3 | Gain | - |
KLK5 | - | - | - | - | 3 | Gain | - |
KLK6 | - | - | - | - | 3 | Gain | - |
KLK7 | - | - | - | - | 3 | Gain | - |
KLK8 | - | - | - | - | 3 | Gain | - |
KLK9 | - | - | - | - | 3 | Gain | - |
KMT2A | p.P327L p.S2294F | Missense Missense | SNP SNP | 0.413 0.460 | 2 | - | - |
KMT2D | p.E3083* p.P2499L p.P984L | Nonsense Missense Missense | SNP SNP SNP | 0.438 0.489 0.476 | 2 | - | - |
KMT5C | - | - | - | - | 3 | Gain | - |
KNDC1 | p.E276K | Missense | SNP | 0.337 | 3 | Gain | - |
KNG1 | p.K97N | Missense | SNP | 0.459 | 2 | - | - |
KNL1 | - | - | - | - | 1 | Loss | - |
KNSTRN | - | - | - | - | 1 | Loss | - |
KPNA2 | p.P57L | Missense | SNP | 0.505 | 3 | Gain | - |
KPNA3 | - | - | - | - | 1 | Loss | - |
KRBOX1 | - | - | - | - | 1 | Loss | - |
KRCC1 | - | - | - | - | 1 | Loss | - |
KRT13 | p.R27H | Missense | SNP | 0.460 | 2 | - | - |
KRT25 | p.T209I | Missense | SNP | 0.390 | 2 | - | - |
KRT39 | p.P54L | Missense | SNP | 0.367 | 2 | - | - |
KRT76 | p.P152I | Missense | MNP | 0.514 | 2 | - | - |
KRT84 | p.S348N p.S178C | Missense Missense | SNP SNP | 0.424 0.407 | 2 | - | - |
KRT85 | p.E337D | Missense | SNP | 0.466 | 2 | - | - |
KRTAP10-1 | - | - | - | - | 1 | Loss | - |
KRTAP10-10 | - | - | - | - | 1 | Loss | - |
KRTAP10-11 | - | - | - | - | 1 | Loss | - |
KRTAP10-12 | - | - | - | - | 1 | Loss | - |
KRTAP10-2 | - | - | - | - | 1 | Loss | - |
KRTAP10-3 | - | - | - | - | 1 | Loss | - |
KRTAP10-4 | - | - | - | - | 1 | Loss | - |
KRTAP10-5 | - | - | - | - | 1 | Loss | - |
KRTAP10-6 | - | - | - | - | 1 | Loss | - |
KRTAP10-7 | - | - | - | - | 1 | Loss | - |
KRTAP10-8 | - | - | - | - | 1 | Loss | - |
KRTAP10-9 | - | - | - | - | 1 | Loss | - |
KRTAP11-1 | - | - | - | - | 1 | Loss | - |
KRTAP12-1 | - | - | - | - | 1 | Loss | - |
KRTAP12-2 | - | - | - | - | 1 | Loss | - |
KRTAP12-3 | - | - | - | - | 1 | Loss | - |
KRTAP12-4 | - | - | - | - | 1 | Loss | - |
KRTAP13-1 | - | - | - | - | 1 | Loss | - |
KRTAP13-2 | - | - | - | - | 1 | Loss | - |
KRTAP13-3 | - | - | - | - | 1 | Loss | - |
KRTAP13-4 | - | - | - | - | 1 | Loss | - |
KRTAP15-1 | - | - | - | - | 1 | Loss | - |
KRTAP19-1 | - | - | - | - | 1 | Loss | - |
KRTAP19-2 | - | - | - | - | 1 | Loss | - |
KRTAP19-3 | - | - | - | - | 1 | Loss | - |
KRTAP19-4 | - | - | - | - | 1 | Loss | - |
KRTAP19-5 | p.G16K | Missense | MNP | 1.000 | 1 | Loss | - |
KRTAP19-6 | - | - | - | - | 1 | Loss | - |
KRTAP19-7 | - | - | - | - | 1 | Loss | - |
KRTAP19-8 | - | - | - | - | 1 | Loss | - |
KRTAP20-1 | - | - | - | - | 1 | Loss | - |
KRTAP20-2 | - | - | - | - | 1 | Loss | - |
KRTAP20-3 | - | - | - | - | 1 | Loss | - |
KRTAP20-4 | - | - | - | - | 1 | Loss | - |
KRTAP21-1 | - | - | - | - | 1 | Loss | - |
KRTAP21-2 | - | - | - | - | 1 | Loss | - |
KRTAP21-3 | - | - | - | - | 1 | Loss | - |
KRTAP22-1 | - | - | - | - | 1 | Loss | - |
KRTAP22-2 | - | - | - | - | 1 | Loss | - |
KRTAP23-1 | - | - | - | - | 1 | Loss | - |
KRTAP24-1 | - | - | - | - | 1 | Loss | - |
KRTAP25-1 | - | - | - | - | 1 | Loss | - |
KRTAP26-1 | - | - | - | - | 1 | Loss | - |
KRTAP27-1 | - | - | - | - | 1 | Loss | - |
KRTAP5-1 | - | - | - | - | 1 | Loss | - |
KRTAP5-2 | - | - | - | - | 1 | Loss | - |
KRTAP5-3 | - | - | - | - | 1 | Loss | - |
KRTAP5-4 | - | - | - | - | 1 | Loss | - |
KRTAP5-5 | - | - | - | - | 1 | Loss | - |
KRTAP5-6 | - | - | - | - | 1 | Loss | - |
KRTAP6-1 | - | - | - | - | 1 | Loss | - |
KRTAP6-2 | - | - | - | - | 1 | Loss | - |
KRTAP6-3 | - | - | - | - | 1 | Loss | - |
KRTAP7-1 | - | - | - | - | 1 | Loss | - |
KRTAP8-1 | - | - | - | - | 1 | Loss | - |
KRTAP9-9 | p.G87R | Missense | SNP | 0.516 | 2 | - | - |
KRTCAP3 | - | - | - | - | 1 | Loss | - |
KYNU | - | - | - | - | 1 | Loss | - |
L3MBTL1 | p.P691S | Missense | SNP | 0.304 | 2 | - | - |
L3MBTL4 | - | - | - | - | 1 | Loss | - |
LACC1 | p.P286S | Missense | SNP | 0.407 | 1 | Loss | - |
LACTB | - | - | - | - | 3 | Gain | - |
LAIR1 | - | - | - | - | 3 | Gain | - |
LAIR2 | - | - | - | - | 3 | Gain | - |
LAMA1 | - | - | - | - | 1 | Loss | - |
LAMA2 | p.E1303K | Missense | SNP | 0.444 | 2 | - | - |
LAMB2 | - | - | - | - | 1 | Loss | - |
LAMC1 | - | - | - | - | 3 | Gain | - |
LAMC2 | p.P299S p.R780M | Missense Missense | SNP SNP | 0.500 0.591 | 3 | Gain | - |
LAMP1 | - | - | - | - | 1 | Loss | - |
LAMTOR3 | - | - | - | - | 1 | Loss | - |
LAMTOR5 | - | - | - | - | 3 | Gain | - |
LANCL1 | - | - | - | - | 1 | Loss | - |
LANCL2 | - | - | - | - | 21 | Amp | - |
LAPTM4A | - | - | - | - | 1 | Loss | - |
LARP1 | - | - | - | - | 1 | Loss | - |
LARP4B | - | - | - | - | 1 | Loss | - |
LARP6 | - | - | - | - | 3 | Gain | - |
LARP7 | - | - | - | - | 1 | Loss | - |
LARS | p.S163F | Missense | SNP | 0.270 | 1 | Loss | - |
LARS2 | - | - | - | - | 1 | Loss | - |
LATS2 | p.P991L | Missense | SNP | 0.254 | 2 | - | - |
LBH | - | - | - | - | 1 | Loss | - |
LBX2 | - | - | - | - | 1 | Loss | - |
LCA5L | - | - | - | - | 1 | Loss | - |
LCE1A | p.S106L | Missense | MNP | 0.743 | 2 | - | - |
LCLAT1 | - | - | - | - | 1 | Loss | - |
LCMT2 | - | - | - | - | 1 | Loss | - |
LCP1 | - | - | - | - | 1 | Loss | - |
LCP2 | - | - | - | - | 3 | Gain | - |
LCT | p.P383S | Missense | SNP | 1.000 | 1 | Loss | - |
LCTL | - | - | - | - | 3 | Gain | - |
LDAH | - | - | - | - | 1 | Loss | - |
LDB2 | p.A63V | Missense | SNP | 0.656 | 2 | - | - |
LDHA | - | - | - | - | 1 | Loss | - |
LDHAL6A | - | - | - | - | 1 | Loss | - |
LDHAL6B | p.P203L | Missense | SNP | 0.508 | 3 | Gain | - |
LDHB | - | - | - | - | 1 | Loss | - |
LDHC | - | - | - | - | 1 | Loss | - |
LDLRAD4 | - | - | - | - | 1 | Loss | - |
LEAP2 | - | - | - | - | 1 | Loss | - |
LECT2 | - | - | - | - | 1 | Loss | - |
LEF1 | - | - | - | - | 1 | Loss | - |
LENG1 | - | - | - | - | 3 | Gain | - |
LENG8 | - | - | - | - | 3 | Gain | - |
LENG9 | - | - | - | - | 3 | Gain | - |
LEO1 | - | - | - | - | 1 | Loss | - |
LEPROTL1 | - | - | - | - | 1 | Loss | - |
LETMD1 | p.S346F | Missense | SNP | 0.439 | 2 | - | - |
LEXM | p.S335F | Missense | SNP | 0.522 | 2 | - | - |
LFNG | - | - | - | - | 1 | Loss | - |
LGALS3BP | - | - | - | - | 3 | Gain | - |
LGALSL | - | - | - | - | 1 | Loss | - |
LGI3 | - | - | - | - | 1 | Loss | - |
LGR4 | - | - | - | - | 1 | Loss | - |
LHB | - | - | - | - | 3 | Gain | - |
LHCGR | - | - | - | - | 1 | Loss | - |
LHFP | p.G174R | Missense | SNP | 0.483 | ND | ND | - |
LHFPL2 | - | - | - | - | 1 | Loss | - |
LHFPL4 | - | - | - | - | 1 | Loss | - |
LHFPL6 | - | - | - | - | 1 | Loss | - |
LHX9 | - | - | - | - | 3 | Gain | - |
LIAS | - | - | - | - | 1 | Loss | - |
LIG1 | - | - | - | - | 3 | Gain | - |
LIG4 | - | - | - | - | 1 | Loss | - |
LILRA1 | - | - | - | - | 3 | Gain | - |
LILRA2 | - | - | - | - | 3 | Gain | - |
LILRA4 | - | - | - | - | 3 | Gain | - |
LILRA5 | - | - | - | - | 3 | Gain | - |
LILRA6 | - | - | - | - | 3 | Gain | - |
LILRB1 | - | - | - | - | 3 | Gain | - |
LILRB2 | - | - | - | - | 3 | Gain | - |
LILRB3 | - | - | - | - | 3 | Gain | - |
LILRB4 | - | - | - | - | 3 | Gain | - |
LILRB5 | - | - | - | - | 3 | Gain | - |
LIM2 | - | - | - | - | 3 | Gain | - |
LIMCH1 | - | - | - | - | 1 | Loss | - |
LIMD1 | - | - | - | - | 1 | Loss | - |
LIMD2 | - | - | - | - | 3 | Gain | - |
LIME1 | - | - | - | - | 3 | Gain | - |
LIMS1 | - | - | - | - | 3 | Gain | - |
LIMS2 | - | - | - | - | 3 | Gain | - |
LIMS3 | - | - | - | - | 3 | Gain | - |
LIMS3-LOC440895 | - | - | - | - | 3 | Gain | - |
LIMS4 | - | - | - | - | 3 | Gain | - |
LIN54 | - | - | - | - | 1 | Loss | - |
LIN7B | - | - | - | - | 3 | Gain | - |
LIN7C | - | - | - | - | 1 | Loss | - |
LINGO1 | - | - | - | - | 3 | Gain | - |
LINS1 | - | - | - | - | 3 | Gain | - |
LIPC | - | - | - | - | 3 | Gain | - |
LIPG | - | - | - | - | 1 | Loss | - |
LIPI | - | - | - | - | 1 | Loss | - |
LIPN | p.G342R | Missense | SNP | 0.641 | 2 | - | - |
LIPT1 | - | - | - | - | 3 | Gain | - |
LIX1 | - | - | - | - | 1 | Loss | - |
LKAAEAR1 | - | - | - | - | 3 | Gain | - |
LLGL2 | - | - | - | - | 3 | Gain | - |
LMAN1 | - | - | - | - | 1 | Loss | - |
LMAN1L | - | - | - | - | 3 | Gain | - |
LMAN2 | - | - | - | - | 3 | Gain | - |
LMAN2L | - | - | - | - | 3 | Gain | - |
LMCD1 | - | - | - | - | 1 | Loss | - |
LMNA | p.P22F | Missense | MNP | 0.456 | 2 | - | - |
LMNB1 | - | - | - | - | 1 | Loss | - |
LMNTD2 | - | - | - | - | 1 | Loss | - |
LMO1 | - | - | - | - | 1 | Loss | - |
LMO3 | - | - | - | - | 1 | Loss | - |
LMO7 | - | - | - | - | 1 | Loss | - |
LMOD3 | - | - | - | - | 1 | Loss | - |
LMTK3 | - | - | - | - | 3 | Gain | - |
LNPEP | - | - | - | - | 1 | Loss | - |
LNPK | - | - | - | - | 1 | Loss | - |
LONRF1 | - | - | - | - | 1 | Loss | - |
LONRF2 | - | - | - | - | 3 | Gain | - |
LOX | - | - | - | - | 1 | Loss | - |
LOXHD1 | p.E586K | Missense | SNP | 0.725 | 1 | Loss | - |
LOXL1 | - | - | - | - | 3 | Gain | - |
LOXL2 | p.Y33* | Nonsense | SNP | 1.000 | 1 | Loss | - |
LOXL3 | - | - | - | - | 1 | Loss | - |
LPA | p.Q1386H | Missense | SNP | 0.300 | 2 | - | - |
LPAR6 | - | - | - | - | 1 | Loss | - |
LPCAT4 | p.D382N;p.X382_splice | Splice_Site | MNP | 0.371 | 2 | - | - |
LPIN1 | - | - | - | - | 1 | Loss | - |
LPIN2 | - | - | - | - | 1 | Loss | - |
LPIN3 | p.S175F | Missense | SNP | 0.345 | 2 | - | - |
LPL | - | - | - | - | 1 | Loss | - |
LPP | p.C593R | Missense | SNP | 0.568 | 2 | - | - |
LRCH1 | p.L747F | Missense | SNP | 0.526 | 1 | Loss | - |
LRFN3 | p.A104V | Missense | SNP | 0.492 | 2 | - | - |
LRIF1 | - | - | - | - | 3 | Gain | - |
LRIG1 | - | - | - | - | 1 | Loss | - |
LRIG2 | - | - | - | - | 3 | Gain | - |
LRIT2 | p.W286* | Nonsense | SNP | 0.529 | 2 | - | - |
LRIT3 | - | - | - | - | 1 | Loss | - |
LRP1B | p.Y2686Ifs*11 p.Q1125* | Frame_Shift_Del Nonsense | DEL SNP | 0.932 0.943 | 1 | Loss | - |
LRP2 | p.R2095Q | Missense | SNP | 1.000 | 1 | Loss | - |
LRP6 | - | - | - | - | 1 | Loss | - |
LRP8 | p.S470F | Missense | SNP | 0.608 | 2 | - | - |
LRPPRC | - | - | - | - | 1 | Loss | - |
LRRC14 | - | - | - | - | 3 | Gain | - |
LRRC2 | - | - | - | - | 1 | Loss | - |
LRRC24 | - | - | - | - | 3 | Gain | - |
LRRC27 | - | - | - | - | 3 | Gain | - |
LRRC28 | - | - | - | - | 3 | Gain | - |
LRRC3 | - | - | - | - | 1 | Loss | - |
LRRC30 | - | - | - | - | 1 | Loss | - |
LRRC37A3 | p.P1250L | Missense | SNP | 0.431 | 3 | Gain | - |
LRRC39 | - | - | - | - | 3 | Gain | - |
LRRC3B | - | - | - | - | 1 | Loss | - |
LRRC43 | p.D228N | Missense | SNP | 0.443 | 2 | - | - |
LRRC45 | - | - | - | - | 3 | Gain | - |
LRRC49 | - | - | - | - | 3 | Gain | - |
LRRC4B | p.G523S p.G49E | Missense Missense | SNP SNP | 0.259 0.316 | 3 | Gain | - |
LRRC55 | p.S33F | Missense | SNP | 0.459 | 2 | - | - |
LRRC56 | - | - | - | - | 1 | Loss | - |
LRRC57 | - | - | - | - | 1 | Loss | - |
LRRC6 | - | - | - | - | 3 | Gain | - |
LRRC63 | - | - | - | - | 1 | Loss | - |
LRRC7 | p.L375F p.E450K | Missense Missense | SNP SNP | 0.408 0.617 | 2 | - | - |
LRRC70 | - | - | - | - | 1 | Loss | - |
LRRC72 | - | - | - | - | 1 | Loss | - |
LRRC8C | p.P769S | Missense | SNP | 0.390 | 3 | Gain | - |
LRRC8D | p.L4F | Missense | SNP | 0.645 | 3 | Gain | - |
LRRFIP1 | - | - | - | - | 1 | Loss | - |
LRRFIP2 | - | - | - | - | 1 | Loss | - |
LRRK1 | - | - | - | - | 3 | Gain | - |
LRRN1 | - | - | - | - | 1 | Loss | - |
LRRTM1 | - | - | - | - | 1 | Loss | - |
LRRTM2 | - | - | - | - | 1 | Loss | - |
LRRTM4 | p.G331E p.D103N | Missense Missense | SNP SNP | 0.367 0.641 | 1 | Loss | - |
LRTM1 | - | - | - | - | 1 | Loss | - |
LSM11 | - | - | - | - | 3 | Gain | - |
LSM3 | - | - | - | - | 1 | Loss | - |
LSM5 | - | - | - | - | 1 | Loss | - |
LSMEM2 | - | - | - | - | 1 | Loss | - |
LSP1 | - | - | - | - | 1 | Loss | - |
LSS | - | - | - | - | 1 | Loss | - |
LTBP1 | p.P670S | Missense | SNP | 0.630 | 1 | Loss | - |
LTBP3 | p.S256F | Missense | SNP | 0.452 | 2 | - | - |
LTC4S | - | - | - | - | 3 | Gain | - |
LTF | - | - | - | - | 1 | Loss | - |
LTK | - | - | - | - | 1 | Loss | - |
LTN1 | - | - | - | - | 1 | Loss | - |
LUZP2 | - | - | - | - | 1 | Loss | - |
LUZP4 | p.P96L | Missense | SNP | 1.000 | ND | ND | - |
LVRN | - | - | - | - | 1 | Loss | - |
LY6D | - | - | - | - | 3 | Gain | - |
LY6E | - | - | - | - | 3 | Gain | - |
LY6H | - | - | - | - | 3 | Gain | - |
LY6K | - | - | - | - | 3 | Gain | - |
LY6L | - | - | - | - | 3 | Gain | - |
LY75 | - | - | - | - | 1 | Loss | - |
LY75-CD302 | - | - | - | - | 1 | Loss | - |
LYG1 | - | - | - | - | 3 | Gain | - |
LYG2 | - | - | - | - | 3 | Gain | - |
LYNX1 | - | - | - | - | 3 | Gain | - |
LYNX1-SLURP2 | - | - | - | - | 3 | Gain | - |
LYPD2 | - | - | - | - | 3 | Gain | - |
LYPD3 | p.S84L | Missense | SNP | 0.461 | 2 | - | - |
LYPD6 | - | - | - | - | 1 | Loss | - |
LYPD6B | - | - | - | - | 1 | Loss | - |
LYRM7 | - | - | - | - | 1 | Loss | - |
LYSMD2 | - | - | - | - | 1 | Loss | - |
LYSMD3 | - | - | - | - | 1 | Loss | - |
LYSMD4 | - | - | - | - | 3 | Gain | - |
LYVE1 | - | - | - | - | 1 | Loss | - |
LYZL1 | - | - | - | - | 1 | Loss | - |
LYZL2 | - | - | - | - | 1 | Loss | - |
LYZL4 | - | - | - | - | 1 | Loss | - |
LZTFL1 | - | - | - | - | 1 | Loss | - |
LZTS1 | - | - | - | - | 1 | Loss | - |
LZTS2 | p.E108K | Missense | SNP | 0.429 | 2 | - | - |
M1AP | p.S298P | Missense | SNP | 0.567 | 1 | Loss | - |
MAB21L1 | - | - | - | - | 1 | Loss | - |
MAB21L3 | p.P340L | Missense | SNP | 0.361 | 3 | Gain | - |
MAB21L4 | - | - | - | - | 1 | Loss | - |
MACC1 | - | - | - | - | 1 | Loss | - |
MACF1 | p.R5203C | Missense | SNP | 0.352 | 2 | - | - |
MAD1L1 | - | - | - | - | 1 | Loss | - |
MAD2L1 | - | - | - | - | 1 | Loss | - |
MADCAM1 | p.G160R | Missense | SNP | 0.655 | 2 | - | - |
MAF1 | - | - | - | - | 3 | Gain | - |
MAFA | - | - | - | - | 3 | Gain | - |
MAFG | - | - | - | - | 3 | Gain | - |
MAFK | - | - | - | - | 1 | Loss | - |
MAGEB6 | p.D256N | Missense | SNP | 1.000 | ND | ND | - |
MAGEC1 | p.G402S | Missense | SNP | 0.996 | ND | ND | - |
MAGI1 | - | - | - | - | 1 | Loss | - |
MAGI2 | p.P273S | Missense | SNP | 0.409 | 2 | - | - |
MAGI3 | - | - | - | - | 3 | Gain | - |
MAIP1 | - | - | - | - | 1 | Loss | - |
MAK16 | - | - | - | - | 1 | Loss | - |
MAL | - | - | - | - | 3 | Gain | - |
MALL | - | - | - | - | 3 | Gain | - |
MALRD1 | p.H115Y p.D308N | Missense Missense | SNP SNP | 0.676 0.316 | 1 | Loss | - |
MALSU1 | - | - | - | - | 1 | Loss | - |
MALT1 | p.G421R | Missense | SNP | 0.718 | 1 | Loss | - |
MAML1 | - | - | - | - | 3 | Gain | - |
MAMLD1 | p.D42N | Missense | SNP | 1.000 | ND | ND | - |
MAMSTR | - | - | - | - | 3 | Gain | - |
MAN1A2 | - | - | - | - | 3 | Gain | - |
MAN2A1 | - | - | - | - | 1 | Loss | - |
MAN2A2 | p.S495F | Missense | SNP | 0.475 | 3 | Gain | - |
MAN2C1 | p.P688S | Missense | SNP | 0.437 | 3 | Gain | - |
MANBA | - | - | - | - | 1 | Loss | - |
MANF | - | - | - | - | 1 | Loss | - |
MANSC1 | - | - | - | - | 1 | Loss | - |
MAP1A | - | - | - | - | 1 | Loss | - |
MAP1B | - | - | - | - | 1 | Loss | - |
MAP1S | p.S478F | Missense | SNP | 0.573 | 2 | - | - |
MAP2 | p.P465S | Missense | SNP | 0.963 | 1 | Loss | - |
MAP2K1 | - | - | - | - | 3 | Gain | - |
MAP2K5 | - | - | - | - | 3 | Gain | - |
MAP2K6 | - | - | - | - | 3 | Gain | - |
MAP3K1 | - | - | - | - | 1 | Loss | - |
MAP3K10 | p.S596C | Missense | SNP | 0.411 | 2 | - | - |
MAP3K19 | - | - | - | - | 1 | Loss | - |
MAP3K2 | p.P166T | Missense | SNP | 0.360 | 3 | Gain | - |
MAP3K20 | - | - | - | - | 1 | Loss | - |
MAP3K3 | - | - | - | - | 3 | Gain | - |
MAP3K5 | p.S1221L | Missense | SNP | 0.450 | 2 | - | - |
MAP3K6 | p.L1180M | Missense | SNP | 0.420 | 2 | - | - |
MAP3K7 | p.S565F | Missense | SNP | 0.305 | 2 | - | - |
MAP3K7CL | - | - | - | - | 1 | Loss | - |
MAP3K8 | - | - | - | - | 1 | Loss | - |
MAP3K9 | p.P912L | Missense | SNP | 0.519 | 2 | - | - |
MAP4 | - | - | - | - | 1 | Loss | - |
MAP4K3 | p.V182A | Missense | SNP | 0.298 | 1 | Loss | - |
MAP4K4 | - | - | - | - | 3 | Gain | - |
MAPK10 | - | - | - | - | 1 | Loss | - |
MAPK12 | p.L170R | Missense | SNP | 0.377 | 2 | - | - |
MAPK15 | - | - | - | - | 3 | Gain | - |
MAPK4 | - | - | - | - | 1 | Loss | - |
MAPK6 | - | - | - | - | 1 | Loss | - |
MAPK9 | - | - | - | - | 3 | Gain | - |
MAPKAPK3 | - | - | - | - | 1 | Loss | - |
MAPKBP1 | - | - | - | - | 1 | Loss | - |
MAPRE2 | - | - | - | - | 1 | Loss | - |
MAPRE3 | - | - | - | - | 1 | Loss | - |
MARCH10 | - | - | - | - | 3 | Gain | - |
MARCH3 | - | - | - | - | 1 | Loss | - |
MARCH4 | - | - | - | - | 1 | Loss | - |
MARCH7 | - | - | - | - | 1 | Loss | - |
MARCO | p.G349E | Missense | SNP | 0.373 | 3 | Gain | - |
MARK1 | p.S20F | Missense | SNP | 0.403 | 2 | - | - |
MARS2 | - | - | - | - | 1 | Loss | - |
MARVELD2 | - | - | - | - | 1 | Loss | - |
MASP1 | p.P501S p.G471R | Missense Missense | SNP SNP | 0.551 0.568 | 2 | - | - |
MASP2 | p.P299L | Missense | SNP | 0.810 | 2 | - | - |
MAST4 | - | - | - | - | 1 | Loss | - |
MASTL | - | - | - | - | 12 | Amp | - |
MAT1A | p.I266N | Missense | SNP | 0.476 | 2 | - | - |
MAT2A | - | - | - | - | 3 | Gain | - |
MAT2B | - | - | - | - | 3 | Gain | - |
MATN3 | - | - | - | - | 1 | Loss | - |
MATR3 | - | - | - | - | 1 | Loss | - |
MB21D2 | p.H170Y | Missense | SNP | 0.511 | 2 | - | - |
MBD1 | - | - | - | - | 1 | Loss | - |
MBD2 | - | - | - | - | 1 | Loss | - |
MBD5 | p.P284S | Missense | SNP | 1.000 | 1 | Loss | - |
MBL2 | p.K75* | Nonsense | SNP | 0.593 | 2 | - | - |
MBLAC2 | - | - | - | - | 1 | Loss | - |
MBNL2 | - | - | - | - | 1 | Loss | - |
MBOAT2 | - | - | - | - | 1 | Loss | - |
MBOAT4 | - | - | - | - | 1 | Loss | - |
MBOAT7 | - | - | - | - | 3 | Gain | - |
MBP | - | - | - | - | 1 | Loss | - |
MC2R | p.G116D | Missense | SNP | 1.000 | 1 | Loss | - |
MC4R | - | - | - | - | 1 | Loss | - |
MC5R | - | - | - | - | 1 | Loss | - |
MCC | p.X295_splice | Splice_Site | SNP | 0.250 | 1 | Loss | - |
MCCC2 | - | - | - | - | 1 | Loss | - |
MCEE | - | - | - | - | 1 | Loss | - |
MCF2L | - | - | - | - | 1 | Loss | - |
MCFD2 | - | - | - | - | 1 | Loss | - |
MCHR1 | p.S312F | Missense | SNP | 0.652 | 2 | - | - |
MCHR2 | p.Y148D | Missense | SNP | 0.563 | 2 | - | - |
MCIDAS | - | - | - | - | 1 | Loss | - |
MCM10 | - | - | - | - | 1 | Loss | - |
MCM3AP | - | - | - | - | 1 | Loss | - |
MCM6 | - | - | - | - | 1 | Loss | - |
MCPH1 | - | - | - | - | 1 | Loss | - |
MCRIP1 | - | - | - | - | 3 | Gain | - |
MCTP1 | - | - | - | - | 1 | Loss | - |
MCTP2 | p.Q676P | Missense | SNP | 0.496 | 3 | Gain | - |
MCUB | - | - | - | - | 1 | Loss | - |
MDGA1 | p.G497E | Missense | SNP | 0.619 | 2 | - | - |
MDH1 | - | - | - | - | 1 | Loss | - |
MDH1B | - | - | - | - | 1 | Loss | - |
ME2 | - | - | - | - | 1 | Loss | - |
MECOM | p.G676K | Missense | MNP | 0.409 | 2 | - | - |
MED1 | p.L783F | Missense | SNP | 0.471 | 2 | - | - |
MED13 | - | - | - | - | 3 | Gain | - |
MED25 | - | - | - | - | 3 | Gain | - |
MED4 | - | - | - | - | 1 | Loss | - |
MED7 | - | - | - | - | 1 | Loss | - |
MEDAG | - | - | - | - | 1 | Loss | - |
MEF2A | - | - | - | - | 3 | Gain | - |
MEF2C | - | - | - | - | 1 | Loss | - |
MEGF10 | - | - | - | - | 1 | Loss | - |
MEGF11 | - | - | - | - | 3 | Gain | - |
MEGF8 | p.P2199F | Missense | MNP | 0.519 | 2 | - | - |
MEIG1 | - | - | - | - | 1 | Loss | - |
MEIS1 | - | - | - | - | 1 | Loss | - |
MEIS2 | - | - | - | - | 1 | Loss | - |
MEMO1 | - | - | - | - | 1 | Loss | - |
MEOX2 | - | - | - | - | 1 | Loss | - |
MEP1B | - | - | - | - | 1 | Loss | - |
MEPE | - | - | - | - | 1 | Loss | - |
MERTK | p.P976S | Missense | SNP | 0.314 | 3 | Gain | - |
MESD | - | - | - | - | 3 | Gain | - |
MESP1 | - | - | - | - | 3 | Gain | - |
MESP2 | - | - | - | - | 3 | Gain | - |
METAP1 | - | - | - | - | 1 | Loss | - |
METAP1D | - | - | - | - | 1 | Loss | - |
METRNL | - | - | - | - | 3 | Gain | - |
METTL14 | - | - | - | - | 1 | Loss | - |
METTL15 | - | - | - | - | 1 | Loss | - |
METTL21A | - | - | - | - | 1 | Loss | - |
METTL21C | p.G17R | Missense | SNP | 0.323 | 1 | Loss | - |
METTL23 | - | - | - | - | 3 | Gain | - |
METTL2A | p.S178F | Missense | SNP | 0.413 | 3 | Gain | - |
METTL2B | p.S178F | Missense | SNP | 0.215 | 2 | - | - |
METTL4 | - | - | - | - | 1 | Loss | - |
METTL5 | - | - | - | - | 1 | Loss | - |
METTL6 | - | - | - | - | 1 | Loss | - |
METTL8 | - | - | - | - | 1 | Loss | - |
MEX3B | - | - | - | - | 3 | Gain | - |
MEX3C | - | - | - | - | 1 | Loss | - |
MFAP1 | - | - | - | - | 1 | Loss | - |
MFAP3 | - | - | - | - | 1 | Loss | - |
MFF | - | - | - | - | 1 | Loss | - |
MFGE8 | - | - | - | - | 3 | Gain | - |
MFHAS1 | - | - | - | - | 1 | Loss | - |
MFSD10 | p.S417L | Missense | SNP | 0.268 | 2 | - | - |
MFSD11 | - | - | - | - | 3 | Gain | - |
MFSD14A | - | - | - | - | 3 | Gain | - |
MFSD2B | - | - | - | - | 1 | Loss | - |
MFSD3 | - | - | - | - | 3 | Gain | - |
MFSD4A | p.P19L | Missense | SNP | 0.374 | 2 | - | - |
MFSD6 | - | - | - | - | 1 | Loss | - |
MFSD9 | p.G75E | Missense | SNP | 0.374 | 3 | Gain | - |
MGA | - | - | - | - | 1 | Loss | - |
MGAM2 | p.G1702S | Missense | SNP | 0.556 | 2 | - | - |
MGAT1 | - | - | - | - | 3 | Gain | - |
MGAT4A | p.P210S | Missense | SNP | 0.563 | 3 | Gain | - |
MGAT4B | - | - | - | - | 3 | Gain | - |
MGAT5 | - | - | - | - | 1 | Loss | - |
MGAT5B | - | - | - | - | 3 | Gain | - |
MGMT | - | - | - | - | 3 | Gain | - |
MGP | - | - | - | - | 1 | Loss | - |
MGST1 | - | - | - | - | 1 | Loss | - |
MICAL2 | p.P96S | Missense | SNP | 1.000 | 1 | Loss | - |
MICALL2 | - | - | - | - | 1 | Loss | - |
MICU3 | - | - | - | - | 1 | Loss | - |
MIDN | p.S220F | Missense | SNP | 0.333 | 2 | - | - |
MIER3 | - | - | - | - | 1 | Loss | - |
MIF4GD | - | - | - | - | 3 | Gain | - |
MILR1 | - | - | - | - | 3 | Gain | - |
MINDY2 | - | - | - | - | 3 | Gain | - |
MINDY3 | - | - | - | - | 1 | Loss | - |
MINDY4 | - | - | - | - | 1 | Loss | - |
MIOS | - | - | - | - | 1 | Loss | - |
MIS18A | - | - | - | - | 1 | Loss | - |
MISP | p.E304K | Missense | SNP | 0.259 | 2 | - | - |
MITD1 | - | - | - | - | 3 | Gain | - |
MITF | - | - | - | - | 1 | Loss | - |
MKI67 | p.G3139V | Missense | SNP | 0.708 | 3 | Gain | - |
MKRN2 | - | - | - | - | 1 | Loss | - |
MKRN2OS | - | - | - | - | 1 | Loss | - |
MKX | - | - | - | - | 7 | Amp | - |
MLH1 | - | - | - | - | 1 | Loss | - |
MLIP | p.P914S | Missense | SNP | 0.276 | 2 | - | - |
MLLT10 | - | - | - | - | 1 | Loss | - |
MLNR | - | - | - | - | 1 | Loss | - |
MLPH | - | - | - | - | 1 | Loss | - |
MLXIPL | p.P417F | Missense | MNP | 0.629 | 2 | - | - |
MMADHC | - | - | - | - | 1 | Loss | - |
MMD2 | p.W91* | Nonsense | SNP | 0.400 | 1 | Loss | - |
MMP13 | p.M116I | Missense | SNP | 0.511 | 2 | - | - |
MMP26 | - | - | - | - | 1 | Loss | - |
MMRN1 | - | - | - | - | 1 | Loss | - |
MND1 | - | - | - | - | 1 | Loss | - |
MNS1 | - | - | - | - | 3 | Gain | - |
MOB1A | - | - | - | - | 1 | Loss | - |
MOB2 | - | - | - | - | 1 | Loss | - |
MOB4 | - | - | - | - | 1 | Loss | - |
MOBP | - | - | - | - | 1 | Loss | - |
MOCOS | - | - | - | - | 1 | Loss | - |
MOCS1 | p.E34K | Missense | SNP | 0.475 | 2 | - | - |
MOCS2 | - | - | - | - | 1 | Loss | - |
MOG | p.P293S | Missense | SNP | 0.228 | 2 | - | - |
MOGAT1 | - | - | - | - | 1 | Loss | - |
MOGS | - | - | - | - | 1 | Loss | - |
MON1A | - | - | - | - | 1 | Loss | - |
MON2 | p.L1163V | Missense | SNP | 0.420 | 2 | - | - |
MORC1 | p.E155K | Missense | SNP | 0.500 | 2 | - | - |
MORC3 | - | - | - | - | 1 | Loss | - |
MORF4L1 | - | - | - | - | 3 | Gain | - |
MORN2 | - | - | - | - | 1 | Loss | - |
MOV10 | - | - | - | - | 3 | Gain | - |
MPHOSPH10 | - | - | - | - | 1 | Loss | - |
MPI | - | - | - | - | 3 | Gain | - |
MPLKIP | - | - | - | - | 1 | Loss | - |
MPP4 | - | - | - | - | 1 | Loss | - |
MPP6 | - | - | - | - | 1 | Loss | - |
MPP7 | - | - | - | - | 1 | Loss | - |
MPPE1 | - | - | - | - | 1 | Loss | - |
MPPED2 | - | - | - | - | 1 | Loss | - |
MPRIP | p.H1407Y | Missense | SNP | 0.400 | 2 | - | - |
MPV17 | - | - | - | - | 1 | Loss | - |
MRAP | - | - | - | - | 1 | Loss | - |
MRC1 | p.R558K | Missense | SNP | 0.704 | 1 | Loss | - |
MRC2 | - | - | - | - | 3 | Gain | - |
MREG | - | - | - | - | 1 | Loss | - |
MRGPRE | - | - | - | - | 1 | Loss | - |
MRGPRG | - | - | - | - | 1 | Loss | - |
MRGPRX1 | - | - | - | - | 1 | Loss | - |
MRGPRX2 | - | - | - | - | 1 | Loss | - |
MRGPRX3 | - | - | - | - | 1 | Loss | - |
MRGPRX4 | - | - | - | - | 1 | Loss | - |
MRM2 | - | - | - | - | 1 | Loss | - |
MRNIP | - | - | - | - | 3 | Gain | - |
MRO | - | - | - | - | 1 | Loss | - |
MROH1 | - | - | - | - | 3 | Gain | - |
MROH2A | p.L1425F | Missense | SNP | 1.000 | 1 | Loss | - |
MROH2B | p.L377F p.Y165N | Missense Missense | SNP SNP | 0.451 0.520 | 2 | - | - |
MROH5 | - | - | - | - | 3 | Gain | - |
MROH6 | - | - | - | - | 3 | Gain | - |
MROH7 | p.G119R | Missense | SNP | 0.528 | 2 | - | - |
MROH8 | p.D179N | Missense | SNP | 0.592 | 1 | Loss | - |
MRPL12 | - | - | - | - | 3 | Gain | - |
MRPL17 | - | - | - | - | 1 | Loss | - |
MRPL19 | - | - | - | - | 1 | Loss | - |
MRPL22 | - | - | - | - | 1 | Loss | - |
MRPL23 | - | - | - | - | 1 | Loss | - |
MRPL30 | - | - | - | - | 3 | Gain | - |
MRPL32 | - | - | - | - | 1 | Loss | - |
MRPL33 | - | - | - | - | 1 | Loss | - |
MRPL35 | - | - | - | - | 1 | Loss | - |
MRPL38 | - | - | - | - | 3 | Gain | - |
MRPL39 | - | - | - | - | 1 | Loss | - |
MRPL44 | - | - | - | - | 1 | Loss | - |
MRPL45 | p.P267L | Missense | SNP | 0.488 | 2 | - | - |
MRPL46 | - | - | - | - | 3 | Gain | - |
MRPL53 | - | - | - | - | 1 | Loss | - |
MRPL58 | - | - | - | - | 3 | Gain | - |
MRPS11 | - | - | - | - | 3 | Gain | - |
MRPS17 | - | - | - | - | 20 | Amp | - |
MRPS18C | - | - | - | - | 1 | Loss | - |
MRPS24 | - | - | - | - | 1 | Loss | - |
MRPS25 | - | - | - | - | 1 | Loss | - |
MRPS27 | - | - | - | - | 1 | Loss | - |
MRPS31 | p.D193N | Missense | SNP | 0.974 | 1 | Loss | - |
MRPS36 | - | - | - | - | 1 | Loss | - |
MRPS5 | - | - | - | - | 3 | Gain | - |
MRPS6 | - | - | - | - | 1 | Loss | - |
MRPS7 | - | - | - | - | 3 | Gain | - |
MRPS9 | - | - | - | - | 3 | Gain | - |
MRVI1 | - | - | - | - | 1 | Loss | - |
MS4A14 | p.S118F | Missense | SNP | 0.488 | 2 | - | - |
MSGN1 | - | - | - | - | 1 | Loss | - |
MSH2 | - | - | - | - | 1 | Loss | - |
MSH3 | - | - | - | - | 1 | Loss | - |
MSH6 | - | - | - | - | 1 | Loss | - |
MSR1 | p.P301S | Missense | SNP | 1.000 | 1 | Loss | - |
MSRA | - | - | - | - | 1 | Loss | - |
MSRB2 | - | - | - | - | 1 | Loss | - |
MSRB3 | p.G177R | Missense | SNP | 0.429 | 2 | - | - |
MST1 | - | - | - | - | 1 | Loss | - |
MST1R | - | - | - | - | 1 | Loss | - |
MSTN | - | - | - | - | 1 | Loss | - |
MSX2 | - | - | - | - | 3 | Gain | - |
MTA3 | - | - | - | - | 1 | Loss | - |
MTCL1 | - | - | - | - | 1 | Loss | - |
MTERF4 | - | - | - | - | 1 | Loss | - |
MTF2 | - | - | - | - | 3 | Gain | - |
MTFMT | - | - | - | - | 3 | Gain | - |
MTG1 | - | - | - | - | 3 | Gain | - |
MTHFD2 | p.G291R | Missense | SNP | 0.643 | 1 | Loss | - |
MTHFS | - | - | - | - | 3 | Gain | - |
MTIF2 | - | - | - | - | 1 | Loss | - |
MTMR14 | - | - | - | - | 1 | Loss | - |
MTMR7 | - | - | - | - | 1 | Loss | - |
MTMR9 | - | - | - | - | 1 | Loss | - |
MTPAP | - | - | - | - | 1 | Loss | - |
MTREX | - | - | - | - | 1 | Loss | - |
MTRF1 | - | - | - | - | 1 | Loss | - |
MTTP | - | - | - | - | 1 | Loss | - |
MTURN | - | - | - | - | 21 | Amp | - |
MTUS1 | - | - | - | - | 1 | Loss | - |
MTUS2 | - | - | - | - | 1 | Loss | - |
MTX2 | - | - | - | - | 1 | Loss | - |
MTX3 | - | - | - | - | 1 | Loss | - |
MUC15 | - | - | - | - | 1 | Loss | - |
MUC16 | p.L12464F p.S11789L p.R10696K p.H8640Y p.S6804F p.T6757I p.G6182E p.G5317D p.G1407E | Missense Missense Missense Missense Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP SNP SNP SNP SNP | 0.629 0.295 0.394 0.368 0.500 0.654 0.427 0.575 0.550 | 2 | - | - |
MUC2 | - | - | - | - | 1 | Loss | - |
MUC22 | p.G294S p.R915K | Missense Missense | SNP SNP | 0.280 0.710 | 2 | - | - |
MUC3A | p.P3000L | Missense | SNP | 0.318 | 2 | - | - |
MUC5AC | p.S4643F | Missense | SNP | 1.000 | 1 | Loss | - |
MUC5B | - | - | - | - | 1 | Loss | - |
MUC6 | - | - | - | - | 1 | Loss | - |
MUCL1 | p.A10E | Missense | SNP | 0.208 | 2 | - | - |
MUSTN1 | - | - | - | - | 1 | Loss | - |
MX1 | - | - | - | - | 1 | Loss | - |
MX2 | - | - | - | - | 1 | Loss | - |
MXD1 | - | - | - | - | 1 | Loss | - |
MXD3 | - | - | - | - | 3 | Gain | - |
MXRA7 | - | - | - | - | 3 | Gain | - |
MYADM | - | - | - | - | 3 | Gain | - |
MYADML2 | - | - | - | - | 3 | Gain | - |
MYBPC2 | - | - | - | - | 3 | Gain | - |
MYBPC3 | p.E843K | Missense | SNP | 0.515 | 2 | - | - |
MYBPHL | - | - | - | - | 3 | Gain | - |
MYC | - | - | - | - | 3 | Gain | - |
MYCBP2 | - | - | - | - | 1 | Loss | - |
MYCBPAP | p.S343F | Missense | SNP | 0.439 | 2 | - | - |
MYCN | - | - | - | - | 1 | Loss | - |
MYD88 | - | - | - | - | 1 | Loss | - |
MYEF2 | - | - | - | - | 1 | Loss | - |
MYH1 | p.E681K | Missense | SNP | 0.487 | 2 | - | - |
MYH11 | p.E1053K | Missense | SNP | 0.427 | 2 | - | - |
MYH13 | p.G1811S | Missense | SNP | 0.455 | 2 | - | - |
MYH14 | - | - | - | - | 3 | Gain | - |
MYH3 | p.E876K | Missense | SNP | 0.310 | 2 | - | - |
MYH8 | p.P544L | Missense | SNP | 0.477 | 2 | - | - |
MYL1 | - | - | - | - | 1 | Loss | - |
MYL12A | - | - | - | - | 1 | Loss | - |
MYL12B | - | - | - | - | 1 | Loss | - |
MYL3 | - | - | - | - | 1 | Loss | - |
MYL7 | - | - | - | - | 1 | Loss | - |
MYLK | p.E1001K | Missense | SNP | 0.484 | 2 | - | - |
MYO15A | p.S48F | Missense | SNP | 0.553 | 2 | - | - |
MYO15B | - | - | - | - | 3 | Gain | - |
MYO16 | p.D426N p.P889S | Missense Missense | SNP SNP | 0.321 0.370 | 1 | Loss | - |
MYO18B | p.S705C p.G1514R | Missense Missense | SNP SNP | 0.469 0.553 | 2 | - | - |
MYO1B | - | - | - | - | 1 | Loss | - |
MYO1E | - | - | - | - | 3 | Gain | - |
MYO1G | - | - | - | - | 1 | Loss | - |
MYO3A | - | - | - | - | 1 | Loss | - |
MYO3B | - | - | - | - | 1 | Loss | - |
MYO5A | - | - | - | - | 1 | Loss | - |
MYO5B | - | - | - | - | 1 | Loss | - |
MYO5C | - | - | - | - | 1 | Loss | - |
MYO7A | p.P1887S | Missense | SNP | 0.411 | 2 | - | - |
MYO7B | p.E380K p.G613E | Missense Missense | SNP SNP | 0.353 0.377 | 3 | Gain | - |
MYO9A | - | - | - | - | 3 | Gain | - |
MYO9B | p.S1442F | Missense | SNP | 0.448 | 2 | - | - |
MYOD1 | - | - | - | - | 1 | Loss | - |
MYOM1 | - | - | - | - | 1 | Loss | - |
MYOM2 | - | - | - | - | 1 | Loss | - |
MYOT | - | - | - | - | 1 | Loss | - |
MYOZ2 | - | - | - | - | 1 | Loss | - |
MYOZ3 | - | - | - | - | 1 | Loss | - |
MYPN | p.P568S | Missense | SNP | 0.688 | 2 | - | - |
MYRIP | - | - | - | - | 1 | Loss | - |
MYT1 | - | - | - | - | 3 | Gain | - |
MYT1L | - | - | - | - | 1 | Loss | - |
MYZAP | - | - | - | - | 3 | Gain | - |
MZB1 | - | - | - | - | 1 | Loss | - |
MZF1 | - | - | - | - | 3 | Gain | - |
MZT1 | - | - | - | - | 1 | Loss | - |
N4BP2 | - | - | - | - | 1 | Loss | - |
N4BP2L1 | - | - | - | - | 1 | Loss | - |
N4BP2L2 | - | - | - | - | 1 | Loss | - |
N4BP3 | - | - | - | - | 3 | Gain | - |
N6AMT1 | - | - | - | - | 1 | Loss | - |
NAA16 | - | - | - | - | 1 | Loss | - |
NAA80 | - | - | - | - | 1 | Loss | - |
NAAA | p.I80F | Missense | SNP | 0.488 | 2 | - | - |
NAB1 | - | - | - | - | 1 | Loss | - |
NABP1 | - | - | - | - | 1 | Loss | - |
NACA2 | - | - | - | - | 3 | Gain | - |
NACAD | p.E1260K | Missense | SNP | 0.260 | 1 | Loss | - |
NADSYN1 | p.S423F | Missense | SNP | 0.526 | 2 | - | - |
NAGK | - | - | - | - | 1 | Loss | - |
NAIP | - | - | - | - | 1 | Loss | - |
NALCN | - | - | - | - | 1 | Loss | - |
NAP1L4 | - | - | - | - | 1 | Loss | - |
NAP1L5 | - | - | - | - | 1 | Loss | - |
NAPG | p.P224S | Missense | SNP | 0.954 | 1 | Loss | - |
NAPRT | - | - | - | - | 3 | Gain | - |
NAPSA | - | - | - | - | 3 | Gain | - |
NARF | - | - | - | - | 3 | Gain | - |
NARS | - | - | - | - | 1 | Loss | - |
NAT1 | - | - | - | - | 1 | Loss | - |
NAT14 | p.V74L | Missense | SNP | 0.280 | 3 | Gain | - |
NAT2 | - | - | - | - | 1 | Loss | - |
NAT6 | p.P15S | Missense | SNP | 1.000 | ND | ND | - |
NAT8 | - | - | - | - | 1 | Loss | - |
NAT9 | - | - | - | - | 3 | Gain | - |
NAV2 | - | - | - | - | 1 | Loss | - |
NAV3 | p.S592F | Missense | SNP | 0.194 | 2 | - | - |
NAXD | - | - | - | - | 1 | Loss | - |
NBAS | - | - | - | - | 1 | Loss | - |
NBEA | - | - | - | - | 1 | Loss | - |
NBEAL1 | - | - | - | - | 1 | Loss | - |
NBEAL2 | - | - | - | - | 1 | Loss | - |
NBPF26 | - | - | - | - | 3 | Gain | - |
NBPF4 | - | - | - | - | 3 | Gain | - |
NBPF6 | - | - | - | - | 3 | Gain | - |
NCAN | p.X1084_splice | Splice_Site | SNP | 0.286 | 2 | - | - |
NCAPH | - | - | - | - | 3 | Gain | - |
NCF2 | - | - | - | - | 3 | Gain | - |
NCF4 | p.S315F | Missense | SNP | 0.537 | 2 | - | - |
NCK2 | - | - | - | - | 3 | Gain | - |
NCKAP1 | - | - | - | - | 1 | Loss | - |
NCKAP5 | p.S1256F p.R1243K p.P1238S p.F1000L | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.681 0.314 0.643 0.721 | 2 | - | - |
NCKIPSD | - | - | - | - | 1 | Loss | - |
NCL | - | - | - | - | 1 | Loss | - |
NCOA1 | - | - | - | - | 1 | Loss | - |
NCOA6 | p.P1923L | Missense | SNP | 0.518 | 2 | - | - |
NCOR2 | p.P2169L p.P2149L | Missense Missense | SNP SNP | 0.619 0.407 | 2 | - | - |
NCR1 | - | - | - | - | 3 | Gain | - |
NCR2 | p.G105E | Missense | SNP | 0.367 | 2 | - | - |
NCR3 | p.R173K | Missense | SNP | 0.237 | 2 | - | - |
NCR3LG1 | - | - | - | - | 1 | Loss | - |
NDC80 | - | - | - | - | 1 | Loss | - |
NDFIP1 | - | - | - | - | 1 | Loss | - |
NDFIP2 | - | - | - | - | 1 | Loss | - |
NDN | p.P95S | Missense | SNP | 0.642 | 2 | - | - |
NDNF | - | - | - | - | 1 | Loss | - |
NDRG1 | - | - | - | - | 3 | Gain | - |
NDST1 | - | - | - | - | 1 | Loss | - |
NDST3 | - | - | - | - | 1 | Loss | - |
NDST4 | p.E218K | Missense | SNP | 0.963 | 1 | Loss | - |
NDUFA10 | - | - | - | - | 1 | Loss | - |
NDUFA2 | - | - | - | - | 1 | Loss | - |
NDUFA3 | - | - | - | - | 3 | Gain | - |
NDUFA4 | - | - | - | - | 1 | Loss | - |
NDUFA5 | p.L90V | Missense | SNP | 0.389 | 2 | - | - |
NDUFAF1 | - | - | - | - | 1 | Loss | - |
NDUFAF2 | - | - | - | - | 1 | Loss | - |
NDUFAF3 | - | - | - | - | 1 | Loss | - |
NDUFAF7 | - | - | - | - | 1 | Loss | - |
NDUFAF8 | - | - | - | - | 3 | Gain | - |
NDUFS1 | - | - | - | - | 1 | Loss | - |
NDUFS4 | - | - | - | - | 1 | Loss | - |
NDUFV2 | - | - | - | - | 1 | Loss | - |
NDUFV3 | - | - | - | - | 1 | Loss | - |
NEB | - | - | - | - | 1 | Loss | - |
NEBL | - | - | - | - | 1 | Loss | - |
NECTIN1 | p.P430L | Missense | SNP | 0.493 | 2 | - | - |
NEDD4 | - | - | - | - | 3 | Gain | - |
NEDD4L | - | - | - | - | 1 | Loss | - |
NEDD9 | p.D175N | Missense | SNP | 0.239 | 2 | - | - |
NEFH | p.P839T | Missense | SNP | 0.415 | 2 | - | - |
NEFL | - | - | - | - | 1 | Loss | - |
NEFM | - | - | - | - | 1 | Loss | - |
NEIL1 | - | - | - | - | 3 | Gain | - |
NEIL2 | - | - | - | - | 1 | Loss | - |
NEK10 | - | - | - | - | 1 | Loss | - |
NEK2 | p.X371_splice | Splice_Site | SNP | 0.600 | 2 | - | - |
NEK3 | - | - | - | - | 1 | Loss | - |
NEK4 | - | - | - | - | 1 | Loss | - |
NEK5 | - | - | - | - | 1 | Loss | - |
NEK7 | - | - | - | - | 3 | Gain | - |
NELFE | p.P99S | Missense | SNP | 0.172 | 2 | - | - |
NELL1 | - | - | - | - | 1 | Loss | - |
NELL2 | p.Q129* | Nonsense | SNP | 0.276 | 2 | - | - |
NEMP2 | - | - | - | - | 1 | Loss | - |
NEO1 | - | - | - | - | 3 | Gain | - |
NET1 | - | - | - | - | 1 | Loss | - |
NETO1 | - | - | - | - | 1 | Loss | - |
NEU2 | p.P89L | Missense | SNP | 1.000 | 1 | Loss | - |
NEU4 | - | - | - | - | 1 | Loss | - |
NEURL1B | - | - | - | - | 3 | Gain | - |
NEURL3 | p.L122V p.P106S | Missense Missense | SNP SNP | 0.369 0.327 | 3 | Gain | - |
NEUROD1 | - | - | - | - | 1 | Loss | - |
NEUROD6 | - | - | - | - | 1 | Loss | - |
NEUROG1 | - | - | - | - | 1 | Loss | - |
NEUROG2 | p.M248I | Missense | SNP | 1.000 | 1 | Loss | - |
NFATC1 | - | - | - | - | 1 | Loss | - |
NFE2L2 | - | - | - | - | 1 | Loss | - |
NFE2L3 | - | - | - | - | 1 | Loss | - |
NFKB1 | - | - | - | - | 1 | Loss | - |
NFU1 | - | - | - | - | 1 | Loss | - |
NFXL1 | - | - | - | - | 1 | Loss | - |
NGEF | - | - | - | - | 1 | Loss | - |
NGF | - | - | - | - | 3 | Gain | - |
NGLY1 | - | - | - | - | 1 | Loss | - |
NGRN | - | - | - | - | 3 | Gain | - |
NHEJ1 | - | - | - | - | 1 | Loss | - |
NHLH2 | - | - | - | - | 3 | Gain | - |
NHLRC3 | - | - | - | - | 1 | Loss | - |
NHP2 | - | - | - | - | 3 | Gain | - |
NHSL2 | p.S777F p.E802K | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
NICN1 | - | - | - | - | 1 | Loss | - |
NID2 | p.G1056R | Missense | SNP | 0.432 | 2 | - | - |
NIF3L1 | - | - | - | - | 1 | Loss | - |
NIFK | - | - | - | - | 3 | Gain | - |
NIPAL1 | - | - | - | - | 1 | Loss | - |
NIPAL4 | - | - | - | - | 1 | Loss | - |
NIPSNAP2 | - | - | - | - | 20 | Amp | - |
NISCH | - | - | - | - | 1 | Loss | - |
NKD1 | - | - | - | - | 1 | Loss | - |
NKG7 | - | - | - | - | 3 | Gain | - |
NKIRAS1 | - | - | - | - | 1 | Loss | - |
NKIRAS2 | - | - | - | - | 1 | Loss | - |
NKTR | - | - | - | - | 1 | Loss | - |
NKX2-5 | - | - | - | - | 3 | Gain | - |
NKX2-6 | - | - | - | - | 1 | Loss | - |
NKX3-1 | - | - | - | - | 1 | Loss | - |
NKX6-1 | - | - | - | - | 1 | Loss | - |
NKX6-2 | - | - | - | - | 3 | Gain | - |
NLE1 | p.G340C | Missense | SNP | 0.511 | 2 | - | - |
NLN | - | - | - | - | 1 | Loss | - |
NLRC4 | - | - | - | - | 1 | Loss | - |
NLRP10 | - | - | - | - | 1 | Loss | - |
NLRP11 | p.E537D | Missense | SNP | 0.316 | 3 | Gain | - |
NLRP12 | - | - | - | - | 3 | Gain | - |
NLRP13 | p.H952Y p.G620R p.P56L | Missense Missense Missense | SNP SNP SNP | 0.739 0.318 0.645 | 3 | Gain | - |
NLRP14 | - | - | - | - | 1 | Loss | - |
NLRP2 | - | - | - | - | 3 | Gain | - |
NLRP4 | p.V992I | Missense | SNP | 0.358 | 3 | Gain | - |
NLRP5 | p.P745Q | Missense | SNP | 0.397 | 3 | Gain | - |
NLRP6 | - | - | - | - | 1 | Loss | - |
NLRP7 | - | - | - | - | 3 | Gain | - |
NLRP8 | - | - | - | - | 3 | Gain | - |
NLRP9 | p.G492E | Missense | SNP | 0.362 | 3 | Gain | - |
NMB | - | - | - | - | 3 | Gain | - |
NME5 | - | - | - | - | 1 | Loss | - |
NME6 | - | - | - | - | 1 | Loss | - |
NME8 | - | - | - | - | 1 | Loss | - |
NMI | - | - | - | - | 1 | Loss | - |
NMNAT2 | - | - | - | - | 3 | Gain | - |
NMS | - | - | - | - | 3 | Gain | - |
NMT2 | - | - | - | - | 1 | Loss | - |
NMUR1 | - | - | - | - | 1 | Loss | - |
NMUR2 | - | - | - | - | 1 | Loss | - |
NNMT | p.P215S | Missense | SNP | 0.449 | 2 | - | - |
NOD1 | - | - | - | - | 21 | Amp | - |
NOD2 | - | - | - | - | 1 | Loss | - |
NOL10 | - | - | - | - | 1 | Loss | - |
NOL11 | - | - | - | - | 3 | Gain | - |
NOL4 | - | - | - | - | 1 | Loss | - |
NOP16 | - | - | - | - | 3 | Gain | - |
NOP58 | - | - | - | - | 1 | Loss | - |
NOS1 | p.N639D | Missense | SNP | 0.444 | 2 | - | - |
NOS2 | p.A723T | Missense | SNP | 0.438 | 2 | - | - |
NOSIP | - | - | - | - | 3 | Gain | - |
NOSTRIN | - | - | - | - | 1 | Loss | - |
NOTCH1 | p.X481_splice | Splice_Site | SNP | 1.000 | 2 | - | - |
NOTCH2 | - | - | - | - | 3 | Gain | - |
NOTCH3 | p.P2293L | Missense | SNP | 0.510 | 2 | - | - |
NOTCH4 | p.S1452F | Missense | SNP | 0.310 | 2 | - | - |
NOTO | - | - | - | - | 1 | Loss | - |
NOTUM | - | - | - | - | 3 | Gain | - |
NOX5 | - | - | - | - | 3 | Gain | - |
NPAP1 | p.G299E | Missense | SNP | 0.576 | 2 | - | - |
NPAS2 | - | - | - | - | 3 | Gain | - |
NPAS3 | p.K394* | Nonsense | SNP | 0.512 | 3 | Gain | - |
NPAS4 | p.S249L | Missense | SNP | 0.504 | 2 | - | - |
NPB | - | - | - | - | 3 | Gain | - |
NPBWR2 | - | - | - | - | 3 | Gain | - |
NPC1L1 | - | - | - | - | 1 | Loss | - |
NPFFR2 | p.N300D p.T302I | Missense Missense | SNP SNP | 0.500 0.492 | 2 | - | - |
NPHP1 | - | - | - | - | 3 | Gain | - |
NPHP4 | p.A983V | Missense | SNP | 0.303 | 2 | - | - |
NPLOC4 | - | - | - | - | 3 | Gain | - |
NPM1 | - | - | - | - | 3 | Gain | - |
NPM2 | - | - | - | - | 1 | Loss | - |
NPNT | - | - | - | - | 1 | Loss | - |
NPPC | - | - | - | - | 1 | Loss | - |
NPR1 | p.P450S | Missense | SNP | 0.621 | 2 | - | - |
NPRL2 | - | - | - | - | 1 | Loss | - |
NPS | - | - | - | - | 3 | Gain | - |
NPSR1 | - | - | - | - | 1 | Loss | - |
NPTN | - | - | - | - | 3 | Gain | - |
NPTX1 | - | - | - | - | 3 | Gain | - |
NPVF | - | - | - | - | 1 | Loss | - |
NPY | - | - | - | - | 1 | Loss | - |
NR1D2 | - | - | - | - | 1 | Loss | - |
NR1H2 | - | - | - | - | 3 | Gain | - |
NR2C2 | - | - | - | - | 1 | Loss | - |
NR2E3 | - | - | - | - | 3 | Gain | - |
NR2F1 | - | - | - | - | 1 | Loss | - |
NR2F2 | - | - | - | - | 3 | Gain | - |
NR3C1 | - | - | - | - | 1 | Loss | - |
NR4A2 | - | - | - | - | 1 | Loss | - |
NR5A2 | - | - | - | - | 3 | Gain | - |
NRAP | p.D292N | Missense | SNP | 0.310 | 2 | - | - |
NRAS | - | - | - | - | 3 | Gain | - |
NRBP1 | - | - | - | - | 1 | Loss | - |
NRBP2 | p.L284F | Missense | SNP | 0.274 | 3 | Gain | - |
NRCAM | p.P948L | Missense | MNP | 0.304 | 2 | - | - |
NREP | - | - | - | - | 1 | Loss | - |
NRG1 | - | - | - | - | 1 | Loss | - |
NRG2 | - | - | - | - | 1 | Loss | - |
NRG4 | - | - | - | - | 3 | Gain | - |
NRIP1 | p.P672S | Missense | SNP | 0.446 | 2 | - | - |
NRIP3 | - | - | - | - | 1 | Loss | - |
NRK | p.M666I | Missense | SNP | 0.992 | ND | ND | - |
NRM | p.L60F | Missense | SNP | 0.314 | 2 | - | - |
NRP1 | - | - | - | - | 1 | Loss | - |
NRP2 | - | - | - | - | 1 | Loss | - |
NRXN1 | - | - | - | - | 1 | Loss | - |
NRXN3 | p.M704I | Missense | SNP | 0.405 | 2 | - | - |
NSA2 | - | - | - | - | 1 | Loss | - |
NSD1 | p.G2271R | Missense | SNP | 0.391 | 3 | Gain | - |
NSG2 | - | - | - | - | 3 | Gain | - |
NSUN6 | - | - | - | - | 1 | Loss | - |
NSUN7 | - | - | - | - | 1 | Loss | - |
NT5C | - | - | - | - | 3 | Gain | - |
NT5C1B | - | - | - | - | 1 | Loss | - |
NT5C1B-RDH14 | - | - | - | - | 1 | Loss | - |
NT5C3A | - | - | - | - | 1 | Loss | - |
NT5C3B | - | - | - | - | 1 | Loss | - |
NT5DC2 | - | - | - | - | 1 | Loss | - |
NT5DC4 | - | - | - | - | 3 | Gain | - |
NTF4 | - | - | - | - | 3 | Gain | - |
NTN5 | - | - | - | - | 3 | Gain | - |
NTNG1 | p.T533P | Missense | SNP | 0.379 | 3 | Gain | - |
NTRK3 | p.G520K | Missense | MNP | 0.484 | 3 | Gain | - |
NTSR2 | - | - | - | - | 1 | Loss | - |
NUCB1 | p.R381C | Missense | SNP | 0.298 | 3 | Gain | - |
NUCB2 | - | - | - | - | 1 | Loss | - |
NUDCD2 | - | - | - | - | 3 | Gain | - |
NUDCD3 | - | - | - | - | 1 | Loss | - |
NUDT1 | - | - | - | - | 1 | Loss | - |
NUDT12 | - | - | - | - | 1 | Loss | - |
NUDT15 | - | - | - | - | 1 | Loss | - |
NUDT18 | - | - | - | - | 1 | Loss | - |
NUDT5 | - | - | - | - | 1 | Loss | - |
NUDT6 | - | - | - | - | 1 | Loss | - |
NUDT9 | - | - | - | - | 1 | Loss | - |
NUFIP1 | - | - | - | - | 1 | Loss | - |
NUGGC | - | - | - | - | 1 | Loss | - |
NUP210 | - | - | - | - | 1 | Loss | - |
NUP35 | - | - | - | - | 1 | Loss | - |
NUP58 | p.G539V | Missense | SNP | 0.416 | 2 | - | - |
NUP62 | - | - | - | - | 3 | Gain | - |
NUP85 | - | - | - | - | 3 | Gain | - |
NUP98 | - | - | - | - | 1 | Loss | - |
NUPL2 | - | - | - | - | 1 | Loss | - |
NUPR2 | - | - | - | - | 20 | Amp | - |
NUSAP1 | - | - | - | - | 1 | Loss | - |
NWD2 | - | - | - | - | 1 | Loss | - |
NXF3 | p.D50N | Missense | SNP | 1.000 | ND | ND | - |
NXPE1 | p.E280K | Missense | SNP | 0.574 | 2 | - | - |
NXPH1 | - | - | - | - | 1 | Loss | - |
NXPH2 | - | - | - | - | 1 | Loss | - |
NYAP2 | p.E512K | Missense | SNP | 1.000 | 1 | Loss | - |
OAZ2 | - | - | - | - | 3 | Gain | - |
OBSL1 | - | - | - | - | 1 | Loss | - |
OC90 | - | - | - | - | 3 | Gain | - |
OCA2 | p.S92P | Missense | SNP | 0.625 | 2 | - | - |
OCIAD1 | - | - | - | - | 1 | Loss | - |
OCIAD2 | - | - | - | - | 1 | Loss | - |
OCLM | - | - | - | - | 3 | Gain | - |
OCLN | - | - | - | - | 1 | Loss | - |
OCM | - | - | - | - | 1 | Loss | - |
ODAM | p.E174K | Missense | SNP | 0.537 | 2 | - | - |
ODC1 | - | - | - | - | 1 | Loss | - |
ODF3 | - | - | - | - | 1 | Loss | - |
ODF3L1 | - | - | - | - | 3 | Gain | - |
ODR4 | - | - | - | - | 3 | Gain | - |
OGDH | - | - | - | - | 1 | Loss | - |
OGFOD3 | - | - | - | - | 3 | Gain | - |
OGG1 | - | - | - | - | 1 | Loss | - |
OIP5 | - | - | - | - | 1 | Loss | - |
OLA1 | - | - | - | - | 1 | Loss | - |
OLAH | - | - | - | - | 1 | Loss | - |
OLFM3 | - | - | - | - | 3 | Gain | - |
OLFM4 | - | - | - | - | 1 | Loss | - |
OLFML1 | - | - | - | - | 1 | Loss | - |
OLFML2B | p.D688N | Missense | SNP | 0.361 | 2 | - | - |
OLFML3 | - | - | - | - | 3 | Gain | - |
OLIG1 | - | - | - | - | 1 | Loss | - |
OLIG2 | - | - | - | - | 1 | Loss | - |
ONECUT1 | - | - | - | - | 1 | Loss | - |
ONECUT2 | - | - | - | - | 1 | Loss | - |
OPLAH | - | - | - | - | 3 | Gain | - |
OPRL1 | - | - | - | - | 3 | Gain | - |
OPTN | - | - | - | - | 1 | Loss | - |
OR10A2 | - | - | - | - | 1 | Loss | - |
OR10A3 | - | - | - | - | 1 | Loss | - |
OR10A4 | - | - | - | - | 1 | Loss | - |
OR10A5 | - | - | - | - | 1 | Loss | - |
OR10A6 | p.C189I | Missense | MNP | 1.000 | 1 | Loss | - |
OR10W1 | p.S79L | Missense | SNP | 0.517 | 2 | - | - |
OR10X1 | p.L189I | Missense | SNP | 0.468 | 2 | - | - |
OR11G2 | p.P197L | Missense | SNP | 0.528 | 2 | - | - |
OR13C3 | p.G200E | Missense | SNP | 0.992 | 2 | - | - |
OR13H1 | p.K264R | Missense | SNP | 1.000 | ND | ND | - |
OR1A2 | p.S93F | Missense | SNP | 0.413 | 2 | - | - |
OR2A14 | p.R121C | Missense | SNP | 0.617 | 2 | - | - |
OR2AG1 | p.S93F | Missense | SNP | 0.962 | 1 | Loss | - |
OR2AG2 | - | - | - | - | 1 | Loss | - |
OR2AK2 | p.S134F | Missense | SNP | 0.412 | 2 | - | - |
OR2AP1 | p.S215F | Missense | SNP | 0.496 | 2 | - | - |
OR2B3 | p.G152D p.H56Y | Missense Missense | SNP SNP | 0.670 0.232 | 2 | - | - |
OR2D2 | - | - | - | - | 1 | Loss | - |
OR2D3 | - | - | - | - | 1 | Loss | - |
OR2J1 | p.F274L | Missense | SNP | 0.676 | 2 | - | - |
OR2T1 | p.Q276* | Nonsense | SNP | 0.387 | 2 | - | - |
OR2T3 | p.M123K | Missense | SNP | 0.343 | 2 | - | - |
OR2T4 | p.E348K | Missense | SNP | 0.638 | 2 | - | - |
OR2V1 | - | - | - | - | 3 | Gain | - |
OR2V2 | - | - | - | - | 3 | Gain | - |
OR2W3 | p.S267T | Missense | SNP | 0.677 | 2 | - | - |
OR2Y1 | - | - | - | - | 3 | Gain | - |
OR4D5 | p.P182S p.S217L | Missense Missense | SNP SNP | 0.053 0.533 | 2 | - | - |
OR4F15 | - | - | - | - | 3 | Gain | - |
OR4F4 | - | - | - | - | 3 | Gain | - |
OR4F6 | - | - | - | - | 3 | Gain | - |
OR4N2 | p.T242I | Missense | SNP | 0.237 | 2 | - | - |
OR51A2 | - | - | - | - | 1 | Loss | - |
OR51A4 | - | - | - | - | 1 | Loss | - |
OR51A7 | - | - | - | - | 1 | Loss | - |
OR51B2 | - | - | - | - | 1 | Loss | - |
OR51B4 | - | - | - | - | 1 | Loss | - |
OR51B5 | - | - | - | - | 1 | Loss | - |
OR51B6 | - | - | - | - | 1 | Loss | - |
OR51C1P | - | - | - | - | 1 | Loss | - |
OR51D1 | p.L233F | Missense | SNP | 0.961 | 1 | Loss | - |
OR51E1 | - | - | - | - | 1 | Loss | - |
OR51E2 | - | - | - | - | 1 | Loss | - |
OR51F1 | - | - | - | - | 1 | Loss | - |
OR51F2 | - | - | - | - | 1 | Loss | - |
OR51G1 | - | - | - | - | 1 | Loss | - |
OR51G2 | - | - | - | - | 1 | Loss | - |
OR51I1 | - | - | - | - | 1 | Loss | - |
OR51I2 | - | - | - | - | 1 | Loss | - |
OR51L1 | - | - | - | - | 1 | Loss | - |
OR51M1 | - | - | - | - | 1 | Loss | - |
OR51Q1 | - | - | - | - | 1 | Loss | - |
OR51S1 | - | - | - | - | 1 | Loss | - |
OR51T1 | - | - | - | - | 1 | Loss | - |
OR51V1 | - | - | - | - | 1 | Loss | - |
OR52A1 | - | - | - | - | 1 | Loss | - |
OR52A5 | - | - | - | - | 1 | Loss | - |
OR52B2 | - | - | - | - | 1 | Loss | - |
OR52B4 | - | - | - | - | 1 | Loss | - |
OR52B6 | - | - | - | - | 1 | Loss | - |
OR52D1 | - | - | - | - | 1 | Loss | - |
OR52E2 | p.F170V | Missense | SNP | 0.983 | 1 | Loss | - |
OR52E4 | - | - | - | - | 1 | Loss | - |
OR52E5 | - | - | - | - | 1 | Loss | - |
OR52E6 | - | - | - | - | 1 | Loss | - |
OR52E8 | - | - | - | - | 1 | Loss | - |
OR52H1 | - | - | - | - | 1 | Loss | - |
OR52I1 | - | - | - | - | 1 | Loss | - |
OR52I2 | - | - | - | - | 1 | Loss | - |
OR52J3 | - | - | - | - | 1 | Loss | - |
OR52K1 | - | - | - | - | 1 | Loss | - |
OR52K2 | - | - | - | - | 1 | Loss | - |
OR52L1 | - | - | - | - | 1 | Loss | - |
OR52M1 | - | - | - | - | 1 | Loss | - |
OR52N1 | - | - | - | - | 1 | Loss | - |
OR52N2 | - | - | - | - | 1 | Loss | - |
OR52N4 | - | - | - | - | 1 | Loss | - |
OR52N5 | - | - | - | - | 1 | Loss | - |
OR52R1 | - | - | - | - | 1 | Loss | - |
OR52W1 | - | - | - | - | 1 | Loss | - |
OR56A1 | - | - | - | - | 1 | Loss | - |
OR56A3 | - | - | - | - | 1 | Loss | - |
OR56A4 | - | - | - | - | 1 | Loss | - |
OR56A5 | - | - | - | - | 1 | Loss | - |
OR56B1 | - | - | - | - | 1 | Loss | - |
OR56B4 | - | - | - | - | 1 | Loss | - |
OR5AP2 | p.G31E | Missense | SNP | 0.422 | 2 | - | - |
OR5M11 | p.S92Y | Missense | SNP | 0.497 | 2 | - | - |
OR5P2 | - | - | - | - | 1 | Loss | - |
OR5P3 | - | - | - | - | 1 | Loss | - |
OR5V1 | p.G305R | Missense | SNP | 0.620 | 2 | - | - |
OR6A2 | - | - | - | - | 1 | Loss | - |
OR6B1 | p.S156F | Missense | SNP | 0.393 | 2 | - | - |
OR6B2 | - | - | - | - | 1 | Loss | - |
OR6B3 | - | - | - | - | 1 | Loss | - |
OR6C75 | p.S240F | Missense | SNP | 0.473 | 2 | - | - |
OR6K3 | p.S164F | Missense | SNP | 0.469 | 2 | - | - |
OR8B2 | p.M151I | Missense | SNP | 0.529 | 2 | - | - |
OR8D1 | p.G233S | Missense | SNP | 0.233 | 2 | - | - |
OR8H1 | p.S88F | Missense | SNP | 0.440 | 2 | - | - |
OR8J1 | p.L71F | Missense | SNP | 0.460 | 2 | - | - |
OR8J3 | p.G41E | Missense | SNP | 0.521 | 2 | - | - |
OR8K1 | p.R128C | Missense | SNP | 0.490 | 2 | - | - |
OR9A2 | p.K309R | Missense | SNP | 0.570 | 2 | - | - |
OR9I1 | p.S167F | Missense | SNP | 0.578 | 2 | - | - |
ORAI3 | p.P186F | Missense | MNP | 0.487 | 2 | - | - |
ORC2 | - | - | - | - | 1 | Loss | - |
ORC4 | - | - | - | - | 1 | Loss | - |
ORMDL1 | - | - | - | - | 1 | Loss | - |
OSBP2 | p.E836K | Missense | SNP | 0.450 | 2 | - | - |
OSBPL10 | - | - | - | - | 1 | Loss | - |
OSBPL3 | - | - | - | - | 1 | Loss | - |
OSBPL5 | - | - | - | - | 1 | Loss | - |
OSBPL6 | - | - | - | - | 1 | Loss | - |
OSCAR | - | - | - | - | 3 | Gain | - |
OSGEPL1 | - | - | - | - | 1 | Loss | - |
OSR1 | - | - | - | - | 1 | Loss | - |
OST4 | - | - | - | - | 1 | Loss | - |
OSTC | - | - | - | - | 1 | Loss | - |
OTOA | p.Q589* | Nonsense | SNP | 0.467 | 2 | - | - |
OTOF | - | - | - | - | 1 | Loss | - |
OTOG | - | - | - | - | 1 | Loss | - |
OTOGL | p.F1664L p.L2316F | Missense Missense | SNP SNP | 0.485 0.580 | 2 | - | - |
OTOL1 | p.P301S | Missense | SNP | 0.435 | 2 | - | - |
OTOP2 | - | - | - | - | 3 | Gain | - |
OTOP3 | - | - | - | - | 3 | Gain | - |
OTOS | - | - | - | - | 1 | Loss | - |
OTP | - | - | - | - | 1 | Loss | - |
OTUD1 | - | - | - | - | 1 | Loss | - |
OTX1 | - | - | - | - | 1 | Loss | - |
OVCH1 | p.G1044E | Missense | SNP | 0.236 | 2 | - | - |
OVCH2 | - | - | - | - | 1 | Loss | - |
OVGP1 | - | - | - | - | 3 | Gain | - |
OXER1 | - | - | - | - | 1 | Loss | - |
OXGR1 | - | - | - | - | 1 | Loss | - |
OXLD1 | - | - | - | - | 3 | Gain | - |
OXNAD1 | - | - | - | - | 1 | Loss | - |
OXSM | - | - | - | - | 1 | Loss | - |
OXSR1 | - | - | - | - | 1 | Loss | - |
OXTR | - | - | - | - | 1 | Loss | - |
P3H4 | - | - | - | - | 1 | Loss | - |
P4HA2 | - | - | - | - | 1 | Loss | - |
P4HA3 | p.L133F | Missense | SNP | 0.352 | 2 | - | - |
P4HB | - | - | - | - | 3 | Gain | - |
P4HTM | - | - | - | - | 1 | Loss | - |
PABPC3 | p.P316L | Missense | SNP | 0.314 | 2 | - | - |
PACSIN3 | p.A87T | Missense | SNP | 0.479 | 2 | - | - |
PADI4 | p.W233* | Nonsense | SNP | 0.519 | 2 | - | - |
PAIP2 | - | - | - | - | 1 | Loss | - |
PAIP2B | - | - | - | - | 1 | Loss | - |
PAK6 | - | - | - | - | 1 | Loss | - |
PALM | p.P117L p.E353K | Missense Missense | SNP SNP | 0.269 0.536 | 2 | - | - |
PALMD | - | - | - | - | 3 | Gain | - |
PAM | - | - | - | - | 1 | Loss | - |
PAMR1 | p.S20L | Missense | SNP | 0.185 | 2 | - | - |
PANK3 | - | - | - | - | 3 | Gain | - |
PAOX | - | - | - | - | 3 | Gain | - |
PAPOLB | - | - | - | - | 1 | Loss | - |
PAPOLG | - | - | - | - | 1 | Loss | - |
PAPPA2 | p.K1766T | Missense | SNP | 0.525 | 2 | - | - |
PAPSS1 | - | - | - | - | 1 | Loss | - |
PAQR5 | - | - | - | - | 3 | Gain | - |
PARD3 | - | - | - | - | 1 | Loss | - |
PARD3B | - | - | - | - | 1 | Loss | - |
PARD6G | - | - | - | - | 1 | Loss | - |
PARP10 | - | - | - | - | 3 | Gain | - |
PARP14 | p.S1411F | Missense | SNP | 0.383 | 2 | - | - |
PARP16 | - | - | - | - | 3 | Gain | - |
PARP3 | - | - | - | - | 1 | Loss | - |
PARP6 | - | - | - | - | 3 | Gain | - |
PARP8 | - | - | - | - | 1 | Loss | - |
PARVA | p.P105L | Missense | SNP | 1.000 | 1 | Loss | - |
PASD1 | p.E517K | Missense | SNP | 1.000 | ND | ND | - |
PASK | - | - | - | - | 1 | Loss | - |
PATL2 | - | - | - | - | 1 | Loss | - |
PAX3 | - | - | - | - | 1 | Loss | - |
PAX6 | - | - | - | - | 1 | Loss | - |
PAX7 | p.P384L | Missense | SNP | 0.648 | 2 | - | - |
PAX8 | - | - | - | - | 3 | Gain | - |
PAXBP1 | - | - | - | - | 1 | Loss | - |
PBK | - | - | - | - | 1 | Loss | - |
PBRM1 | p.Q1434E | Missense | SNP | 0.966 | 1 | Loss | - |
PBXIP1 | p.P127S | Missense | SNP | 0.544 | 2 | - | - |
PCARE | - | - | - | - | 1 | Loss | - |
PCBD2 | - | - | - | - | 1 | Loss | - |
PCBP1 | - | - | - | - | 1 | Loss | - |
PCBP3 | - | - | - | - | 1 | Loss | - |
PCBP4 | - | - | - | - | 1 | Loss | - |
PCCA | - | - | - | - | 1 | Loss | - |
PCDH1 | - | - | - | - | 1 | Loss | - |
PCDH10 | p.N118Y | Missense | SNP | 0.407 | 2 | - | - |
PCDH11X | p.E177K | Missense | SNP | 1.000 | ND | ND | - |
PCDH12 | - | - | - | - | 1 | Loss | - |
PCDH17 | - | - | - | - | 1 | Loss | - |
PCDH18 | p.F246C | Missense | SNP | 0.442 | 2 | - | - |
PCDH20 | - | - | - | - | 1 | Loss | - |
PCDH7 | - | - | - | - | 1 | Loss | - |
PCDH8 | - | - | - | - | 1 | Loss | - |
PCDH9 | - | - | - | - | 1 | Loss | - |
PCDHA1 | - | - | - | - | 1 | Loss | - |
PCDHA10 | p.R4K | Missense | SNP | 0.227 | 1 | Loss | - |
PCDHA11 | - | - | - | - | 1 | Loss | - |
PCDHA12 | - | - | - | - | 1 | Loss | - |
PCDHA13 | - | - | - | - | 1 | Loss | - |
PCDHA2 | p.E558K | Missense | SNP | 0.283 | 1 | Loss | - |
PCDHA3 | - | - | - | - | 1 | Loss | - |
PCDHA4 | - | - | - | - | 1 | Loss | - |
PCDHA5 | - | - | - | - | 1 | Loss | - |
PCDHA6 | p.P568L | Missense | SNP | 0.709 | 1 | Loss | - |
PCDHA7 | - | - | - | - | 1 | Loss | - |
PCDHA8 | - | - | - | - | 1 | Loss | - |
PCDHA9 | p.K870I | Missense | SNP | 0.604 | 1 | Loss | - |
PCDHAC1 | - | - | - | - | 1 | Loss | - |
PCDHAC2 | p.D360N | Missense | SNP | 0.362 | 1 | Loss | - |
PCDHB1 | p.P147S | Missense | SNP | 0.540 | 1 | Loss | - |
PCDHB10 | - | - | - | - | 1 | Loss | - |
PCDHB11 | p.P492L p.R530C | Missense Missense | SNP SNP | 0.571 0.400 | 1 | Loss | - |
PCDHB12 | p.E88K p.V737E | Missense Missense | SNP SNP | 0.675 0.667 | 1 | Loss | - |
PCDHB13 | - | - | - | - | 1 | Loss | - |
PCDHB14 | p.P252L | Missense | SNP | 0.237 | 1 | Loss | - |
PCDHB15 | - | - | - | - | 1 | Loss | - |
PCDHB16 | - | - | - | - | 1 | Loss | - |
PCDHB2 | - | - | - | - | 1 | Loss | - |
PCDHB3 | - | - | - | - | 1 | Loss | - |
PCDHB4 | p.S758F | Missense | SNP | 0.451 | 1 | Loss | - |
PCDHB5 | p.S44F | Missense | SNP | 0.533 | 1 | Loss | - |
PCDHB6 | - | - | - | - | 1 | Loss | - |
PCDHB7 | - | - | - | - | 1 | Loss | - |
PCDHB8 | p.E321K | Missense | SNP | 0.237 | 1 | Loss | - |
PCDHB9 | - | - | - | - | 1 | Loss | - |
PCDHGA1 | - | - | - | - | 1 | Loss | - |
PCDHGA10 | - | - | - | - | 1 | Loss | - |
PCDHGA11 | - | - | - | - | 1 | Loss | - |
PCDHGA12 | - | - | - | - | 1 | Loss | - |
PCDHGA2 | p.G63R | Missense | SNP | 0.692 | 1 | Loss | - |
PCDHGA3 | p.S186F | Missense | SNP | 0.216 | 1 | Loss | - |
PCDHGA4 | p.S636F | Missense | SNP | 0.700 | 1 | Loss | - |
PCDHGA5 | - | - | - | - | 1 | Loss | - |
PCDHGA6 | - | - | - | - | 1 | Loss | - |
PCDHGA7 | - | - | - | - | 1 | Loss | - |
PCDHGA8 | - | - | - | - | 1 | Loss | - |
PCDHGA9 | - | - | - | - | 1 | Loss | - |
PCDHGB1 | - | - | - | - | 1 | Loss | - |
PCDHGB2 | - | - | - | - | 1 | Loss | - |
PCDHGB3 | - | - | - | - | 1 | Loss | - |
PCDHGB4 | - | - | - | - | 1 | Loss | - |
PCDHGB5 | - | - | - | - | 1 | Loss | - |
PCDHGB6 | - | - | - | - | 1 | Loss | - |
PCDHGB7 | - | - | - | - | 1 | Loss | - |
PCDHGC3 | - | - | - | - | 1 | Loss | - |
PCDHGC4 | - | - | - | - | 1 | Loss | - |
PCDHGC5 | p.P685S | Missense | SNP | 0.655 | 1 | Loss | - |
PCGF1 | - | - | - | - | 1 | Loss | - |
PCID2 | - | - | - | - | 1 | Loss | - |
PCK1 | p.G132K | Missense | MNP | 0.566 | 2 | - | - |
PCLAF | - | - | - | - | 3 | Gain | - |
PCLO | p.R4717K p.P4562S p.K1435* | Missense Missense Nonsense | SNP SNP SNP | 0.614 0.448 0.377 | 2 | - | - |
PCM1 | - | - | - | - | 1 | Loss | - |
PCMTD2 | - | - | - | - | 3 | Gain | - |
PCNT | - | - | - | - | 1 | Loss | - |
PCNX3 | p.P516S | Missense | SNP | 0.533 | 2 | - | - |
PCP4 | - | - | - | - | 1 | Loss | - |
PCSK1 | - | - | - | - | 1 | Loss | - |
PCSK6 | - | - | - | - | 3 | Gain | - |
PCYOX1 | - | - | - | - | 1 | Loss | - |
PCYOX1L | - | - | - | - | 1 | Loss | - |
PCYT1B | - | - | - | - | ND | ND | PHF8--PCYT1B |
PCYT2 | - | - | - | - | 3 | Gain | - |
PDC | - | - | - | - | 3 | Gain | - |
PDCD1 | - | - | - | - | 1 | Loss | - |
PDCD6IP | p.L334V | Missense | SNP | 1.000 | 1 | Loss | - |
PDCD7 | - | - | - | - | 3 | Gain | - |
PDCL3 | - | - | - | - | 3 | Gain | - |
PDE10A | p.Q650K | Missense | SNP | 0.571 | 2 | - | - |
PDE11A | - | - | - | - | 1 | Loss | - |
PDE12 | - | - | - | - | 1 | Loss | - |
PDE1A | p.E531K | Missense | SNP | 0.955 | 1 | Loss | - |
PDE1C | p.Q407* | Nonsense | SNP | 0.299 | 1 | Loss | - |
PDE3A | - | - | - | - | 1 | Loss | - |
PDE3B | - | - | - | - | 1 | Loss | - |
PDE4D | - | - | - | - | 1 | Loss | - |
PDE5A | - | - | - | - | 1 | Loss | - |
PDE6A | p.E808* | Nonsense | SNP | 0.615 | 1 | Loss | - |
PDE6D | - | - | - | - | 1 | Loss | - |
PDE6G | - | - | - | - | 3 | Gain | - |
PDE6H | - | - | - | - | 1 | Loss | - |
PDE8A | - | - | - | - | 3 | Gain | - |
PDE8B | - | - | - | - | 1 | Loss | - |
PDE9A | - | - | - | - | 1 | Loss | - |
PDGFA | - | - | - | - | 1 | Loss | - |
PDGFD | p.D361N | Missense | SNP | 0.511 | 2 | - | - |
PDGFRB | - | - | - | - | 1 | Loss | - |
PDGFRL | - | - | - | - | 1 | Loss | - |
PDHA2 | - | - | - | - | 1 | Loss | - |
PDHB | - | - | - | - | 1 | Loss | - |
PDIA3 | - | - | - | - | 1 | Loss | - |
PDIA6 | - | - | - | - | 1 | Loss | - |
PDK1 | - | - | - | - | 1 | Loss | - |
PDLIM2 | - | - | - | - | 1 | Loss | - |
PDLIM4 | - | - | - | - | 1 | Loss | - |
PDLIM5 | - | - | - | - | 1 | Loss | - |
PDLIM7 | p.P447L | Missense | SNP | 0.431 | 3 | Gain | - |
PDS5A | - | - | - | - | 1 | Loss | - |
PDS5B | - | - | - | - | 1 | Loss | - |
PDSS1 | - | - | - | - | 1 | Loss | - |
PDXK | - | - | - | - | 1 | Loss | - |
PDZD2 | p.E1294K | Missense | SNP | 0.574 | 2 | - | - |
PDZD4 | p.P526L p.E368K | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
PDZRN3 | - | - | - | - | 1 | Loss | - |
PEAK1 | - | - | - | - | 3 | Gain | - |
PEBP4 | - | - | - | - | 1 | Loss | - |
PECAM1 | - | - | - | - | 3 | Gain | - |
PECR | - | - | - | - | 1 | Loss | - |
PEG3 | - | - | - | - | 3 | Gain | - |
PELI1 | - | - | - | - | 1 | Loss | - |
PELO | - | - | - | - | 1 | Loss | - |
PER2 | - | - | - | - | 1 | Loss | - |
PEX11A | - | - | - | - | 3 | Gain | - |
PEX13 | - | - | - | - | 1 | Loss | - |
PF4V1 | p.A30T | Missense | SNP | 0.489 | 2 | - | - |
PFDN1 | - | - | - | - | 1 | Loss | - |
PFDN4 | p.I67L | Missense | SNP | 0.415 | 2 | - | - |
PFKFB3 | - | - | - | - | 1 | Loss | - |
PFKFB4 | - | - | - | - | 1 | Loss | - |
PFKL | - | - | - | - | 1 | Loss | - |
PFKP | - | - | - | - | 1 | Loss | - |
PFN3 | - | - | - | - | 3 | Gain | - |
PFN4 | - | - | - | - | 1 | Loss | - |
PGAM2 | - | - | - | - | 1 | Loss | - |
PGAP1 | - | - | - | - | 1 | Loss | - |
PGAP2 | - | - | - | - | 1 | Loss | - |
PGGHG | - | - | - | - | 1 | Loss | - |
PGGT1B | - | - | - | - | 1 | Loss | - |
PGM2 | - | - | - | - | 1 | Loss | - |
PGPEP1L | - | - | - | - | 3 | Gain | - |
PGR | p.V611A | Missense | SNP | 0.422 | 2 | - | - |
PGS1 | - | - | - | - | 3 | Gain | - |
PHAX | - | - | - | - | 1 | Loss | - |
PHF11 | - | - | - | - | 1 | Loss | - |
PHF14 | - | - | - | - | 1 | Loss | - |
PHF20L1 | - | - | - | - | 3 | Gain | - |
PHF23 | p.G191E | Missense | SNP | 0.451 | 2 | - | - |
PHF7 | - | - | - | - | 1 | Loss | - |
PHF8 | - | - | - | - | ND | ND | PHF8--PCYT1B |
PHGDH | - | - | - | - | 3 | Gain | - |
PHGR1 | - | - | - | - | 1 | Loss | - |
PHKG1 | - | - | - | - | 20 | Amp | - |
PHLDA2 | - | - | - | - | 1 | Loss | - |
PHLDB1 | p.E728K p.L1315R | Missense Missense | SNP SNP | 0.385 0.557 | 2 | - | - |
PHLPP1 | - | - | - | - | 1 | Loss | - |
PHOSPHO2 | - | - | - | - | 1 | Loss | - |
PHOX2B | - | - | - | - | 1 | Loss | - |
PHRF1 | - | - | - | - | 1 | Loss | - |
PHTF1 | - | - | - | - | 3 | Gain | - |
PHTF2 | - | - | - | - | 1 | Loss | - |
PHYH | - | - | - | - | 1 | Loss | - |
PHYHIP | - | - | - | - | 1 | Loss | - |
PHYKPL | - | - | - | - | 3 | Gain | - |
PI4KA | p.P273S | Missense | SNP | 0.377 | 2 | - | - |
PIAS1 | - | - | - | - | 3 | Gain | - |
PIAS2 | - | - | - | - | 1 | Loss | - |
PIBF1 | - | - | - | - | 1 | Loss | - |
PICALM | - | - | - | - | 1 | Loss | - |
PID1 | - | - | - | - | 1 | Loss | - |
PIDD1 | - | - | - | - | 1 | Loss | - |
PIEZO2 | p.W936* | Nonsense | SNP | 1.000 | 1 | Loss | - |
PIF1 | - | - | - | - | 3 | Gain | - |
PIFO | - | - | - | - | 3 | Gain | - |
PIGB | - | - | - | - | 3 | Gain | - |
PIGF | - | - | - | - | 1 | Loss | - |
PIGN | - | - | - | - | 1 | Loss | - |
PIGP | - | - | - | - | 1 | Loss | - |
PIGY | - | - | - | - | 1 | Loss | - |
PIH1D1 | - | - | - | - | 3 | Gain | - |
PIK3C2A | - | - | - | - | 1 | Loss | - |
PIK3C2G | - | - | - | - | 1 | Loss | - |
PIK3C3 | - | - | - | - | 1 | Loss | - |
PIK3CG | p.H909Y | Missense | SNP | 0.610 | 2 | - | - |
PIK3IP1 | p.W49L | Missense | SNP | 0.454 | 2 | - | - |
PIK3R1 | - | - | - | - | 1 | Loss | - |
PIK3R4 | p.L261F p.D260Y | Missense Missense | SNP SNP | 0.377 0.390 | 2 | - | - |
PIKFYVE | - | - | - | - | 1 | Loss | - |
PINX1 | - | - | - | - | 1 | Loss | - |
PIP4K2A | - | - | - | - | 1 | Loss | - |
PITPNC1 | p.S267F | Missense | SNP | 0.500 | 3 | Gain | - |
PITPNM3 | p.S492F | Missense | SNP | 0.469 | 2 | - | - |
PITRM1 | - | - | - | - | 1 | Loss | - |
PITX1 | - | - | - | - | 1 | Loss | - |
PITX2 | - | - | - | - | 1 | Loss | - |
PIWIL1 | p.R641Q | Missense | SNP | 0.435 | 2 | - | - |
PIWIL2 | - | - | - | - | 1 | Loss | - |
PJA2 | - | - | - | - | 1 | Loss | - |
PJVK | - | - | - | - | 1 | Loss | - |
PKD1L1 | p.P2526S | Missense | SNP | 0.583 | 1 | Loss | - |
PKD1L2 | p.P189L | Missense | SNP | 0.547 | 2 | - | - |
PKD2 | - | - | - | - | 1 | Loss | - |
PKD2L1 | p.E667* | Nonsense | SNP | 0.379 | 2 | - | - |
PKD2L2 | - | - | - | - | 1 | Loss | - |
PKDCC | - | - | - | - | 1 | Loss | - |
PKDREJ | - | - | - | - | 1 | Loss | - |
PKHD1 | p.E3665K p.R1997Q p.Q716* | Missense Missense Nonsense | SNP SNP SNP | 0.643 0.731 0.638 | 2 | - | - |
PKHD1L1 | p.Q745* | Nonsense | SNP | 0.561 | 2 | - | - |
PKM | - | - | - | - | 3 | Gain | - |
PKNOX1 | - | - | - | - | 1 | Loss | - |
PKP3 | - | - | - | - | 1 | Loss | - |
PKP4 | - | - | - | - | 1 | Loss | - |
PLA2G12A | - | - | - | - | 1 | Loss | - |
PLA2G4A | - | - | - | - | 3 | Gain | - |
PLA2G4B | - | - | - | - | 1 | Loss | - |
PLA2G4C | - | - | - | - | 3 | Gain | - |
PLA2G4D | - | - | - | - | 1 | Loss | - |
PLA2G4E | - | - | - | - | 1 | Loss | - |
PLA2G4F | - | - | - | - | 1 | Loss | - |
PLA2R1 | - | - | - | - | 1 | Loss | - |
PLAC8 | - | - | - | - | 1 | Loss | - |
PLAC8L1 | - | - | - | - | 1 | Loss | - |
PLB1 | p.A997V | Missense | SNP | 0.253 | 1 | Loss | - |
PLBD1 | - | - | - | - | 1 | Loss | - |
PLCB1 | p.E224D | Missense | SNP | 0.585 | 2 | - | - |
PLCB2 | - | - | - | - | 1 | Loss | - |
PLCD1 | - | - | - | - | 1 | Loss | - |
PLCD4 | - | - | - | - | 1 | Loss | - |
PLCH1 | p.E1598K | Missense | SNP | 0.539 | 2 | - | - |
PLCL1 | - | - | - | - | 1 | Loss | - |
PLCL2 | - | - | - | - | 1 | Loss | - |
PLD2 | p.Q900* | Nonsense | SNP | 0.476 | 2 | - | - |
PLD5 | p.R379* | Nonsense | SNP | 0.557 | 2 | - | - |
PLEC | p.P2764L p.E2700K p.I1043F | Missense Missense Missense | SNP SNP SNP | 0.340 0.290 0.556 | 3 | Gain | - |
PLEK | - | - | - | - | 1 | Loss | - |
PLEKHA1 | p.T360I | Missense | SNP | 0.393 | 2 | - | - |
PLEKHA3 | - | - | - | - | 1 | Loss | - |
PLEKHA4 | - | - | - | - | 3 | Gain | - |
PLEKHA5 | - | - | - | - | 0 | Del | - |
PLEKHA6 | p.P575S | Missense | SNP | 0.583 | 2 | - | - |
PLEKHA7 | - | - | - | - | 1 | Loss | - |
PLEKHA8 | - | - | - | - | 21 | Amp | - |
PLEKHG4B | p.G159E | Missense | SNP | 0.542 | 2 | - | - |
PLEKHH2 | - | - | - | - | 1 | Loss | - |
PLEKHM3 | - | - | - | - | 1 | Loss | - |
PLEKHO2 | - | - | - | - | 3 | Gain | - |
PLIN1 | - | - | - | - | 3 | Gain | - |
PLK2 | - | - | - | - | 1 | Loss | - |
PLOD2 | p.R420C | Missense | SNP | 0.465 | 2 | - | - |
PLPBP | - | - | - | - | 1 | Loss | - |
PLPP1 | - | - | - | - | 1 | Loss | - |
PLPPR4 | - | - | - | - | 3 | Gain | - |
PLPPR5 | - | - | - | - | 3 | Gain | - |
PLXDC2 | - | - | - | - | 1 | Loss | - |
PLXNA4 | p.G342S | Missense | SNP | 0.603 | 2 | - | - |
PLXNB1 | - | - | - | - | 1 | Loss | - |
PLXNB3 | p.Q732* | Nonsense | SNP | 1.000 | ND | ND | - |
PMAIP1 | - | - | - | - | 1 | Loss | - |
PMEPA1 | p.P207L | Missense | SNP | 0.648 | 2 | - | - |
PML | - | - | - | - | 3 | Gain | - |
PMS1 | - | - | - | - | 1 | Loss | - |
PMS2 | - | - | - | - | 1 | Loss | - |
PNKD | - | - | - | - | 1 | Loss | - |
PNKP | - | - | - | - | 3 | Gain | - |
PNLIP | p.T440K | Missense | SNP | 0.550 | 2 | - | - |
PNMA2 | - | - | - | - | 1 | Loss | - |
PNO1 | - | - | - | - | 1 | Loss | - |
PNOC | - | - | - | - | 1 | Loss | - |
PNPLA2 | - | - | - | - | 1 | Loss | - |
PNPT1 | - | - | - | - | 1 | Loss | - |
POC1A | - | - | - | - | 1 | Loss | - |
POC5 | - | - | - | - | 1 | Loss | - |
POFUT2 | - | - | - | - | 1 | Loss | - |
POLA1 | - | - | - | - | ND | ND | DCBLD2--POLA1 |
POLD1 | - | - | - | - | 3 | Gain | - |
POLD2 | - | - | - | - | 1 | Loss | - |
POLE2 | p.H214L | Missense | SNP | 0.597 | 2 | - | - |
POLE4 | - | - | - | - | 1 | Loss | - |
POLG | - | - | - | - | 3 | Gain | - |
POLG2 | - | - | - | - | 3 | Gain | - |
POLI | p.P479S | Missense | SNP | 0.583 | 1 | Loss | - |
POLK | - | - | - | - | 1 | Loss | - |
POLM | - | - | - | - | 1 | Loss | - |
POLR1A | p.H1452Y | Missense | SNP | 0.679 | 1 | Loss | - |
POLR1B | - | - | - | - | 3 | Gain | - |
POLR2D | - | - | - | - | 3 | Gain | - |
POLR2L | - | - | - | - | 1 | Loss | - |
POLR2M | - | - | - | - | 3 | Gain | - |
POLR3D | - | - | - | - | 1 | Loss | - |
POLR3G | - | - | - | - | 1 | Loss | - |
POM121L12 | p.G122R | Missense | SNP | 0.678 | 1 | Loss | - |
POMC | - | - | - | - | 1 | Loss | - |
POMGNT1 | p.G641R | Missense | SNP | 0.600 | 2 | - | - |
POMGNT2 | - | - | - | - | 1 | Loss | - |
POMP | - | - | - | - | 1 | Loss | - |
POSTN | - | - | - | - | 1 | Loss | - |
POTEC | - | - | - | - | 1 | Loss | - |
POTED | - | - | - | - | 1 | Loss | - |
POU1F1 | - | - | - | - | 1 | Loss | - |
POU3F3 | - | - | - | - | 3 | Gain | - |
POU4F1 | - | - | - | - | 1 | Loss | - |
POU4F3 | - | - | - | - | 1 | Loss | - |
POU5F1B | - | - | - | - | 3 | Gain | - |
POU5F2 | - | - | - | - | 1 | Loss | - |
POU6F2 | - | - | - | - | 1 | Loss | - |
PP2D1 | - | - | - | - | 1 | Loss | - |
PPA2 | - | - | - | - | 1 | Loss | - |
PPARG | - | - | - | - | 1 | Loss | - |
PPARGC1B | - | - | - | - | 1 | Loss | - |
PPCDC | - | - | - | - | 3 | Gain | - |
PPDPF | - | - | - | - | 3 | Gain | - |
PPFIA2 | p.S833L | Missense | SNP | 0.470 | 2 | - | - |
PPFIA3 | - | - | - | - | 3 | Gain | - |
PPFIBP2 | - | - | - | - | 1 | Loss | - |
PPIA | - | - | - | - | 1 | Loss | - |
PPIAL4A | - | - | - | - | 3 | Gain | - |
PPIB | - | - | - | - | 3 | Gain | - |
PPIC | - | - | - | - | 1 | Loss | - |
PPIG | - | - | - | - | 1 | Loss | - |
PPIL3 | - | - | - | - | 1 | Loss | - |
PPIP5K1 | - | - | - | - | 1 | Loss | - |
PPIP5K2 | - | - | - | - | 1 | Loss | - |
PPM1B | - | - | - | - | 1 | Loss | - |
PPM1D | - | - | - | - | 3 | Gain | - |
PPM1E | p.W620* | Nonsense | SNP | 0.500 | 2 | - | - |
PPM1G | - | - | - | - | 1 | Loss | - |
PPM1J | - | - | - | - | 3 | Gain | - |
PPM1K | - | - | - | - | 1 | Loss | - |
PPM1M | - | - | - | - | 1 | Loss | - |
PPP1CB | - | - | - | - | 1 | Loss | - |
PPP1CC | p.D92Y | Missense | SNP | 0.523 | 2 | - | - |
PPP1R12C | - | - | - | - | 3 | Gain | - |
PPP1R14D | - | - | - | - | 1 | Loss | - |
PPP1R15A | - | - | - | - | 3 | Gain | - |
PPP1R16A | - | - | - | - | 3 | Gain | - |
PPP1R17 | - | - | - | - | 1 | Loss | - |
PPP1R1C | - | - | - | - | 1 | Loss | - |
PPP1R21 | - | - | - | - | 1 | Loss | - |
PPP1R27 | - | - | - | - | 3 | Gain | - |
PPP1R2B | - | - | - | - | 1 | Loss | - |
PPP1R3A | p.E820K | Missense | SNP | 0.354 | 2 | - | - |
PPP1R3B | - | - | - | - | 1 | Loss | - |
PPP1R7 | - | - | - | - | 1 | Loss | - |
PPP1R9B | p.E412* | Nonsense | SNP | 0.411 | 2 | - | - |
PPP2CA | - | - | - | - | 1 | Loss | - |
PPP2CB | p.R135Q | Missense | SNP | 1.000 | 1 | Loss | - |
PPP2R1A | - | - | - | - | 3 | Gain | - |
PPP2R2A | - | - | - | - | 1 | Loss | - |
PPP2R2B | - | - | - | - | 1 | Loss | - |
PPP2R2D | - | - | - | - | 3 | Gain | - |
PPP3CA | - | - | - | - | 1 | Loss | - |
PPP3CC | - | - | - | - | 1 | Loss | - |
PPP3R1 | - | - | - | - | 1 | Loss | - |
PPP4R1 | - | - | - | - | 1 | Loss | - |
PPP4R2 | - | - | - | - | 1 | Loss | - |
PPP4R3B | - | - | - | - | 1 | Loss | - |
PPP4R3CP | p.R708K | Missense | SNP | 0.990 | ND | ND | - |
PPP6R1 | - | - | - | - | 3 | Gain | - |
PPWD1 | - | - | - | - | 1 | Loss | - |
PQLC1 | - | - | - | - | 1 | Loss | - |
PQLC3 | - | - | - | - | 1 | Loss | - |
PRADC1 | - | - | - | - | 1 | Loss | - |
PRAG1 | - | - | - | - | 1 | Loss | - |
PRAMEF14 | p.G253R | Missense | SNP | 0.573 | 2 | - | - |
PRAP1 | - | - | - | - | 3 | Gain | - |
PRB1 | p.G109E | Missense | SNP | 0.958 | 2 | - | - |
PRC1 | - | - | - | - | 3 | Gain | - |
PRCD | - | - | - | - | 3 | Gain | - |
PRDM15 | - | - | - | - | 1 | Loss | - |
PRDM2 | p.T1542I | Missense | SNP | 0.629 | 2 | - | - |
PRDM5 | - | - | - | - | 1 | Loss | - |
PRDM6 | - | - | - | - | 1 | Loss | - |
PRDM8 | - | - | - | - | 1 | Loss | - |
PRDM9 | p.Q7* | Nonsense | SNP | 0.450 | 2 | - | - |
PREB | - | - | - | - | 1 | Loss | - |
PRELID1 | - | - | - | - | 3 | Gain | - |
PRELID2 | - | - | - | - | 1 | Loss | - |
PRELID3A | - | - | - | - | 1 | Loss | - |
PREPL | - | - | - | - | 1 | Loss | - |
PREX2 | p.G1091E | Missense | SNP | 0.574 | 2 | - | - |
PRF1 | p.D498N p.P60L | Missense Missense | SNP SNP | 0.472 0.448 | 2 | - | - |
PRG4 | p.S184F | Missense | SNP | 0.582 | 3 | Gain | - |
PRICKLE2 | - | - | - | - | 1 | Loss | - |
PRKACG | p.E92K | Missense | SNP | 0.996 | 2 | - | - |
PRKAG3 | - | - | - | - | 1 | Loss | - |
PRKAR1A | - | - | - | - | 3 | Gain | - |
PRKAR1B | - | - | - | - | 1 | Loss | - |
PRKAR2A | - | - | - | - | 1 | Loss | - |
PRKCA | - | - | - | - | 3 | Gain | - |
PRKCD | - | - | - | - | 1 | Loss | - |
PRKCE | - | - | - | - | 1 | Loss | - |
PRKCG | - | - | - | - | 3 | Gain | - |
PRKCQ | - | - | - | - | 1 | Loss | - |
PRKD1 | p.P405L | Missense | MNP | 0.548 | 2 | - | - |
PRKD3 | - | - | - | - | 1 | Loss | - |
PRKG2 | - | - | - | - | 1 | Loss | - |
PRKRA | - | - | - | - | 1 | Loss | - |
PRLH | - | - | - | - | 1 | Loss | - |
PRLHR | p.P25S | Missense | SNP | 0.598 | 2 | - | - |
PRMT1 | p.S49F | Missense | SNP | 0.305 | 3 | Gain | - |
PRMT2 | - | - | - | - | 1 | Loss | - |
PRMT3 | - | - | - | - | 1 | Loss | - |
PRMT6 | - | - | - | - | 3 | Gain | - |
PROB1 | p.S124F | Missense | SNP | 0.349 | 1 | Loss | - |
PROC | - | - | - | - | 3 | Gain | - |
PROK1 | - | - | - | - | 3 | Gain | - |
PROK2 | - | - | - | - | 1 | Loss | - |
PROKR1 | - | - | - | - | 1 | Loss | - |
PROM2 | p.L490F | Missense | SNP | 0.576 | 3 | Gain | - |
PROP1 | - | - | - | - | 3 | Gain | - |
PROSER1 | - | - | - | - | 1 | Loss | - |
PROSER2 | - | - | - | - | 1 | Loss | - |
PROZ | - | - | - | - | 1 | Loss | - |
PRPF18 | - | - | - | - | 1 | Loss | - |
PRPF31 | - | - | - | - | 3 | Gain | - |
PRPF38B | - | - | - | - | 3 | Gain | - |
PRPF40A | - | - | - | - | 1 | Loss | - |
PRPF6 | - | - | - | - | 3 | Gain | - |
PRPS1L1 | - | - | - | - | 1 | Loss | - |
PRPSAP1 | - | - | - | - | 1 | Loss | - |
PRR12 | - | - | - | - | 3 | Gain | - |
PRR14L | p.F413C | Missense | SNP | 0.569 | 2 | - | - |
PRR15 | - | - | - | - | 13 | Amp | YME1L1--PRR15 |
PRR16 | - | - | - | - | 1 | Loss | - |
PRR23A | p.P12S | Missense | SNP | 0.542 | 2 | - | - |
PRR23C | p.E249K p.P45L | Missense Missense | SNP SNP | 0.407 0.529 | 2 | - | - |
PRR23D1 | - | - | - | - | 1 | Loss | - |
PRR23D2 | - | - | - | - | 1 | Loss | - |
PRR26 | - | - | - | - | 1 | Loss | - |
PRR29 | p.P220L | Missense | SNP | 0.495 | 3 | Gain | - |
PRR30 | - | - | - | - | 1 | Loss | - |
PRR33 | - | - | - | - | 1 | Loss | - |
PRR7 | - | - | - | - | 3 | Gain | - |
PRRC1 | - | - | - | - | 1 | Loss | - |
PRRG2 | - | - | - | - | 3 | Gain | - |
PRRG4 | - | - | - | - | 1 | Loss | - |
PRRT3 | - | - | - | - | 1 | Loss | - |
PRSS12 | - | - | - | - | 1 | Loss | - |
PRSS33 | p.P272L | Missense | SNP | 0.419 | 2 | - | - |
PRSS42 | - | - | - | - | 1 | Loss | - |
PRSS45 | - | - | - | - | 1 | Loss | - |
PRSS50 | - | - | - | - | 1 | Loss | - |
PRSS55 | - | - | - | - | 1 | Loss | - |
PRSS56 | p.Q80H;p.D81N | Missense | MNP | 1.000 | 1 | Loss | - |
PRTFDC1 | - | - | - | - | 1 | Loss | - |
PRTG | - | - | - | - | 3 | Gain | - |
PSAPL1 | p.D455N | Missense | SNP | 0.705 | 2 | - | - |
PSCA | - | - | - | - | 3 | Gain | - |
PSD2 | - | - | - | - | 1 | Loss | - |
PSD3 | - | - | - | - | 1 | Loss | - |
PSD4 | - | - | - | - | 3 | Gain | - |
PSEN1 | p.P88S | Missense | SNP | 0.394 | 2 | - | - |
PSEN2 | p.D431N | Missense | SNP | 0.463 | 2 | - | - |
PSG7 | p.S286F | Missense | SNP | 0.548 | 2 | - | - |
PSMA1 | - | - | - | - | 1 | Loss | - |
PSMA2 | - | - | - | - | 1 | Loss | - |
PSMA4 | - | - | - | - | 3 | Gain | - |
PSMA5 | - | - | - | - | 3 | Gain | - |
PSMB8 | p.P20S | Missense | SNP | 0.270 | 2 | - | - |
PSMC5 | - | - | - | - | 3 | Gain | - |
PSMD1 | - | - | - | - | 1 | Loss | - |
PSMD12 | - | - | - | - | 3 | Gain | - |
PSMD13 | - | - | - | - | 1 | Loss | - |
PSMD14 | p.S35F | Missense | SNP | 1.000 | 1 | Loss | - |
PSMD6 | - | - | - | - | 1 | Loss | - |
PSME4 | - | - | - | - | 1 | Loss | - |
PSMG1 | - | - | - | - | 1 | Loss | - |
PSMG2 | - | - | - | - | 1 | Loss | - |
PSMG3 | - | - | - | - | 1 | Loss | - |
PSPH | - | - | - | - | 20 | Amp | - |
PSRC1 | - | - | - | - | 3 | Gain | - |
PSTPIP1 | - | - | - | - | 3 | Gain | - |
PSTPIP2 | - | - | - | - | 1 | Loss | - |
PTBP2 | - | - | - | - | 3 | Gain | - |
PTCD2 | - | - | - | - | 1 | Loss | - |
PTCD3 | - | - | - | - | 1 | Loss | - |
PTCHD3 | p.P730S | Missense | SNP | 0.852 | 12 | Amp | - |
PTDSS2 | - | - | - | - | 1 | Loss | - |
PTER | - | - | - | - | 1 | Loss | - |
PTF1A | - | - | - | - | 1 | Loss | - |
PTGFRN | - | - | - | - | 3 | Gain | - |
PTGS2 | - | - | - | - | 3 | Gain | - |
PTH | - | - | - | - | 1 | Loss | - |
PTH1R | - | - | - | - | 1 | Loss | - |
PTH2 | - | - | - | - | 3 | Gain | - |
PTH2R | - | - | - | - | 1 | Loss | - |
PTK2 | - | - | - | - | 3 | Gain | - |
PTK2B | - | - | - | - | 1 | Loss | - |
PTK6 | - | - | - | - | 3 | Gain | - |
PTK7 | p.R972S | Missense | SNP | 0.460 | 2 | - | - |
PTMA | - | - | - | - | 1 | Loss | - |
PTOV1 | p.X312_splice | Splice_Site | SNP | 0.300 | 3 | Gain | - |
PTP4A3 | - | - | - | - | 3 | Gain | - |
PTPN13 | - | - | - | - | 1 | Loss | - |
PTPN2 | - | - | - | - | 1 | Loss | - |
PTPN22 | - | - | - | - | 3 | Gain | - |
PTPN23 | - | - | - | - | 1 | Loss | - |
PTPN4 | p.P397L | Missense | SNP | 0.335 | 3 | Gain | - |
PTPN5 | - | - | - | - | 1 | Loss | - |
PTPN7 | p.G184R | Missense | SNP | 0.298 | 2 | - | - |
PTPN9 | - | - | - | - | 3 | Gain | - |
PTPRC | p.S418L | Missense | SNP | 0.609 | 3 | Gain | - |
PTPRE | - | - | - | - | 3 | Gain | - |
PTPRF | p.P39A p.S607F | Missense Missense | SNP SNP | 0.347 0.636 | 2 | - | - |
PTPRG | - | - | - | - | 1 | Loss | - |
PTPRH | - | - | - | - | 3 | Gain | - |
PTPRM | - | - | - | - | 1 | Loss | - |
PTPRN | - | - | - | - | 1 | Loss | - |
PTPRO | - | - | - | - | 1 | Loss | - |
PTPRQ | p.P881Q | Missense | SNP | 0.451 | 2 | - | - |
PTPRS | p.D1058N | Missense | SNP | 0.443 | 2 | - | - |
PTRHD1 | - | - | - | - | 1 | Loss | - |
PTTG1 | - | - | - | - | 3 | Gain | - |
PTTG1IP | - | - | - | - | 1 | Loss | - |
PTTG2 | - | - | - | - | 1 | Loss | - |
PUF60 | - | - | - | - | 3 | Gain | - |
PUM2 | - | - | - | - | 1 | Loss | - |
PURA | - | - | - | - | 1 | Loss | - |
PURB | - | - | - | - | 1 | Loss | - |
PURG | - | - | - | - | 1 | Loss | - |
PUS10 | - | - | - | - | 1 | Loss | - |
PVALEF | - | - | - | - | 3 | Gain | - |
PVR | p.X27_splice | Splice_Site | SNP | 0.234 | 2 | - | - |
PWP2 | - | - | - | - | 1 | Loss | - |
PWWP2A | - | - | - | - | 3 | Gain | - |
PWWP2B | - | - | - | - | 3 | Gain | - |
PXDC1 | p.P178L | Missense | SNP | 0.311 | 2 | - | - |
PXDN | - | - | - | - | 1 | Loss | - |
PXDNL | p.D275N | Missense | SNP | 0.475 | 2 | - | - |
PXK | - | - | - | - | 1 | Loss | - |
PYCR1 | - | - | - | - | 3 | Gain | - |
PYCR3 | - | - | - | - | 3 | Gain | - |
PYGO1 | - | - | - | - | 3 | Gain | - |
PYROXD1 | - | - | - | - | 1 | Loss | - |
PYURF | - | - | - | - | 1 | Loss | - |
QARS | - | - | - | - | 1 | Loss | - |
QPCT | p.P255S | Missense | SNP | 0.247 | 1 | Loss | - |
QRFPR | - | - | - | - | 1 | Loss | - |
QRICH1 | - | - | - | - | 1 | Loss | - |
QRICH2 | - | - | - | - | 1 | Loss | - |
QSER1 | p.V636D | Missense | SNP | 1.000 | 1 | Loss | - |
R3HCC1 | - | - | - | - | 1 | Loss | - |
R3HDM1 | - | - | - | - | 1 | Loss | - |
RAB10 | - | - | - | - | 1 | Loss | - |
RAB11A | - | - | - | - | 3 | Gain | - |
RAB11FIP1 | - | - | - | - | 1 | Loss | - |
RAB11FIP2 | p.P324L | Missense | SNP | 0.269 | 2 | - | - |
RAB11FIP5 | - | - | - | - | 1 | Loss | - |
RAB12 | - | - | - | - | 1 | Loss | - |
RAB17 | - | - | - | - | 1 | Loss | - |
RAB18 | - | - | - | - | 7 | Amp | - |
RAB1A | - | - | - | - | 1 | Loss | - |
RAB20 | - | - | - | - | 1 | Loss | - |
RAB24 | - | - | - | - | 3 | Gain | - |
RAB27A | - | - | - | - | 3 | Gain | - |
RAB27B | - | - | - | - | 1 | Loss | - |
RAB31 | - | - | - | - | 1 | Loss | - |
RAB33A | p.T53N | Missense | SNP | 0.995 | ND | ND | - |
RAB37 | - | - | - | - | 3 | Gain | - |
RAB3C | p.S132F | Missense | SNP | 0.655 | 1 | Loss | - |
RAB3GAP1 | - | - | - | - | 1 | Loss | - |
RAB40B | - | - | - | - | 3 | Gain | - |
RAB5A | - | - | - | - | 1 | Loss | - |
RAB6C | - | - | - | - | 3 | Gain | - |
RAB8B | - | - | - | - | 3 | Gain | - |
RABL2A | - | - | - | - | 3 | Gain | - |
RAC1 | - | - | - | - | 1 | Loss | - |
RAC2 | p.R68W | Missense | SNP | 0.415 | 2 | - | - |
RAC3 | - | - | - | - | 3 | Gain | - |
RACK1 | - | - | - | - | 3 | Gain | - |
RAD17 | - | - | - | - | 1 | Loss | - |
RAD18 | - | - | - | - | 1 | Loss | - |
RAD21 | p.L248F | Missense | SNP | 0.380 | 2 | - | - |
RAD50 | p.L1060* | Nonsense | SNP | 0.211 | 1 | Loss | - |
RAD51 | - | - | - | - | 1 | Loss | - |
RAD51AP2 | - | - | - | - | 1 | Loss | - |
RAD54L2 | - | - | - | - | 1 | Loss | - |
RADIL | - | - | - | - | 1 | Loss | - |
RAF1 | - | - | - | - | 1 | Loss | - |
RAG1 | p.S353F | Missense | SNP | 0.431 | 2 | - | - |
RALA | - | - | - | - | 1 | Loss | - |
RALB | p.F83Y | Missense | SNP | 0.293 | 3 | Gain | - |
RALBP1 | - | - | - | - | 1 | Loss | - |
RALGAPA2 | p.P878S | Missense | SNP | 0.662 | 2 | - | - |
RALYL | p.E257K | Missense | SNP | 0.344 | 2 | - | - |
RAMAC | - | - | - | - | 3 | Gain | - |
RAMP1 | - | - | - | - | 1 | Loss | - |
RAMP3 | - | - | - | - | 1 | Loss | - |
RANBP10 | p.P496S | Missense | SNP | 0.456 | 2 | - | - |
RANBP17 | - | - | - | - | 3 | Gain | - |
RANBP2 | - | - | - | - | 3 | Gain | - |
RANBP3L | p.Q257H | Missense | SNP | 0.710 | 2 | - | - |
RAP1A | - | - | - | - | 3 | Gain | - |
RAP1GDS1 | - | - | - | - | 1 | Loss | - |
RAP2A | - | - | - | - | 1 | Loss | - |
RAPGEF4 | - | - | - | - | 1 | Loss | - |
RAPGEF5 | - | - | - | - | 1 | Loss | - |
RAPGEF6 | - | - | - | - | 1 | Loss | - |
RAPH1 | - | - | - | - | 1 | Loss | - |
RARA | p.G97D p.P439S | Missense Missense | SNP SNP | 0.461 0.467 | 2 | - | - |
RARB | - | - | - | - | 1 | Loss | - |
RARS | p.Q556* | Nonsense | SNP | 0.359 | 3 | Gain | - |
RASA1 | - | - | - | - | 1 | Loss | - |
RASA3 | - | - | - | - | 1 | Loss | - |
RASGEF1B | - | - | - | - | 1 | Loss | - |
RASGEF1C | - | - | - | - | 3 | Gain | - |
RASGRF1 | - | - | - | - | 3 | Gain | - |
RASGRF2 | - | - | - | - | 1 | Loss | - |
RASGRP1 | - | - | - | - | 1 | Loss | - |
RASGRP3 | - | - | - | - | 1 | Loss | - |
RASIP1 | - | - | - | - | 3 | Gain | - |
RASL12 | - | - | - | - | 3 | Gain | - |
RASSF1 | - | - | - | - | 1 | Loss | - |
RASSF10 | - | - | - | - | 1 | Loss | - |
RASSF7 | - | - | - | - | 1 | Loss | - |
RASSF9 | p.G304R | Missense | SNP | 0.490 | 2 | - | - |
RAX | - | - | - | - | 1 | Loss | - |
RB1 | p.Q702* | Nonsense | SNP | 1.000 | 1 | Loss | - |
RBAK | - | - | - | - | 1 | Loss | - |
RBAK-RBAKDN | - | - | - | - | 1 | Loss | - |
RBBP8NL | p.D511N | Missense | SNP | 0.683 | 2 | - | - |
RBFA | - | - | - | - | 1 | Loss | - |
RBFOX3 | - | - | - | - | 3 | Gain | - |
RBKS | - | - | - | - | 1 | Loss | - |
RBL1 | - | - | - | - | 1 | Loss | - |
RBM10 | p.P545S | Missense | SNP | 0.992 | ND | ND | - |
RBM11 | - | - | - | - | 1 | Loss | - |
RBM15 | - | - | - | - | 3 | Gain | - |
RBM15B | - | - | - | - | 1 | Loss | - |
RBM17 | - | - | - | - | 1 | Loss | - |
RBM22 | - | - | - | - | 1 | Loss | - |
RBM26 | - | - | - | - | 1 | Loss | - |
RBM27 | - | - | - | - | 1 | Loss | - |
RBM28 | p.Q612R | Missense | SNP | 0.270 | 2 | - | - |
RBM42 | p.P277S | Missense | SNP | 0.532 | 2 | - | - |
RBM43 | - | - | - | - | 1 | Loss | - |
RBM44 | p.G448R | Missense | SNP | 0.988 | 1 | Loss | - |
RBM45 | - | - | - | - | 1 | Loss | - |
RBM46 | p.R127* | Nonsense | SNP | 0.486 | 2 | - | - |
RBM47 | p.R137C | Missense | SNP | 0.331 | 1 | Loss | - |
RBM5 | - | - | - | - | 1 | Loss | - |
RBM6 | - | - | - | - | 1 | Loss | - |
RBMS1 | - | - | - | - | 1 | Loss | - |
RBMS3 | - | - | - | - | 1 | Loss | - |
RBMXL2 | p.G303R | Missense | SNP | 1.000 | 1 | Loss | - |
RBMXL3 | p.P245S | Missense | SNP | 1.000 | ND | ND | - |
RBPMS | - | - | - | - | 1 | Loss | - |
RBPMS2 | - | - | - | - | 3 | Gain | - |
RBSN | - | - | - | - | 1 | Loss | - |
RCAN1 | - | - | - | - | 1 | Loss | - |
RCAN2 | p.P163S | Missense | SNP | 0.300 | 2 | - | - |
RCBTB1 | - | - | - | - | 1 | Loss | - |
RCBTB2 | - | - | - | - | 1 | Loss | - |
RCCD1 | - | - | - | - | 3 | Gain | - |
RCN1 | - | - | - | - | 1 | Loss | - |
RCN2 | - | - | - | - | 3 | Gain | - |
RCN3 | - | - | - | - | 3 | Gain | - |
RDH13 | - | - | - | - | 3 | Gain | - |
RDH14 | - | - | - | - | 1 | Loss | - |
REC114 | - | - | - | - | 3 | Gain | - |
RECQL | - | - | - | - | 1 | Loss | - |
RECQL4 | - | - | - | - | 3 | Gain | - |
RECQL5 | - | - | - | - | 3 | Gain | - |
REEP1 | - | - | - | - | 1 | Loss | - |
REEP2 | - | - | - | - | 1 | Loss | - |
REEP4 | - | - | - | - | 1 | Loss | - |
REEP5 | - | - | - | - | 1 | Loss | - |
REG1A | - | - | - | - | 1 | Loss | - |
REG1B | p.X107_splice | Splice_Site | SNP | 0.576 | 1 | Loss | - |
REG3A | - | - | - | - | 1 | Loss | - |
REG3G | - | - | - | - | 1 | Loss | - |
REG4 | - | - | - | - | 3 | Gain | - |
REL | - | - | - | - | 1 | Loss | - |
RELCH | - | - | - | - | 1 | Loss | - |
RELL1 | - | - | - | - | 1 | Loss | - |
RELL2 | - | - | - | - | 1 | Loss | - |
RELN | p.G2315E p.W1368* p.E331K | Missense Nonsense Missense | SNP SNP SNP | 0.487 0.377 0.549 | 2 | - | - |
REPS2 | p.P197S | Missense | SNP | 0.992 | ND | ND | - |
RERG | - | - | - | - | 1 | Loss | - |
RERGL | - | - | - | - | 1 | Loss | - |
RESP18 | - | - | - | - | 1 | Loss | - |
RET | p.W1099* | Nonsense | SNP | 0.542 | 2 | - | - |
RETREG2 | - | - | - | - | 1 | Loss | - |
RETSAT | - | - | - | - | 3 | Gain | - |
REV1 | - | - | - | - | 3 | Gain | - |
REV3L | p.S2680L p.Y796* | Missense Nonsense | SNP SNP | 0.422 0.425 | 2 | - | - |
RFC1 | - | - | - | - | 1 | Loss | - |
RFC3 | - | - | - | - | 1 | Loss | - |
RFESD | - | - | - | - | 1 | Loss | - |
RFNG | - | - | - | - | 3 | Gain | - |
RFPL1 | p.R148Q | Missense | SNP | 0.559 | 2 | - | - |
RFPL4A | - | - | - | - | 3 | Gain | - |
RFPL4AL1 | - | - | - | - | 3 | Gain | - |
RFT1 | - | - | - | - | 1 | Loss | - |
RFTN1 | - | - | - | - | 1 | Loss | - |
RFTN2 | - | - | - | - | 1 | Loss | - |
RFX6 | p.G137R | Missense | SNP | 0.265 | 2 | - | - |
RFX7 | - | - | - | - | 3 | Gain | - |
RFX8 | - | - | - | - | 3 | Gain | - |
RFXAP | - | - | - | - | 1 | Loss | - |
RGAG4 | p.R566Q | Missense | SNP | 1.000 | ND | ND | - |
RGCC | - | - | - | - | 1 | Loss | - |
RGL1 | - | - | - | - | 3 | Gain | - |
RGL2 | p.P223L | Missense | SNP | 0.652 | 2 | - | - |
RGMA | - | - | - | - | 3 | Gain | - |
RGMB | - | - | - | - | 1 | Loss | - |
RGS1 | - | - | - | - | 3 | Gain | - |
RGS13 | - | - | - | - | 3 | Gain | - |
RGS14 | - | - | - | - | 3 | Gain | - |
RGS18 | - | - | - | - | 3 | Gain | - |
RGS19 | - | - | - | - | 3 | Gain | - |
RGS2 | - | - | - | - | 3 | Gain | - |
RGS21 | - | - | - | - | 3 | Gain | - |
RGS7BP | - | - | - | - | 1 | Loss | - |
RGS9 | - | - | - | - | 3 | Gain | - |
RHBDD1 | - | - | - | - | 1 | Loss | - |
RHBDF2 | - | - | - | - | 3 | Gain | - |
RHBDL3 | p.L227V | Missense | SNP | 0.514 | 2 | - | - |
RHCG | - | - | - | - | 3 | Gain | - |
RHOA | - | - | - | - | 1 | Loss | - |
RHOB | - | - | - | - | 1 | Loss | - |
RHOBTB2 | - | - | - | - | 1 | Loss | - |
RHOBTB3 | - | - | - | - | 1 | Loss | - |
RHOC | - | - | - | - | 3 | Gain | - |
RHOG | - | - | - | - | 1 | Loss | - |
RHOH | - | - | - | - | 1 | Loss | - |
RHOQ | - | - | - | - | 1 | Loss | - |
RHOV | - | - | - | - | 1 | Loss | - |
RHPN1 | - | - | - | - | 3 | Gain | - |
RIC3 | - | - | - | - | 1 | Loss | - |
RIC8A | - | - | - | - | 1 | Loss | - |
RIF1 | - | - | - | - | 1 | Loss | - |
RIMKLA | p.P320L | Missense | SNP | 0.507 | 2 | - | - |
RIMS1 | p.G4E | Missense | SNP | 0.439 | 2 | - | - |
RIOK2 | - | - | - | - | 1 | Loss | - |
RIPK4 | - | - | - | - | 1 | Loss | - |
RIPPLY3 | - | - | - | - | 1 | Loss | - |
RIT2 | - | - | - | - | 1 | Loss | - |
RLBP1 | - | - | - | - | 3 | Gain | - |
RMDN2 | - | - | - | - | 1 | Loss | - |
RMDN3 | - | - | - | - | 1 | Loss | - |
RMND5A | - | - | - | - | 1 | Loss | - |
RMND5B | - | - | - | - | 3 | Gain | - |
RNA5-8SN2 | - | - | - | - | ND | ND | RNA5-8SN2--HNRNPA1 |
RNASEH1 | - | - | - | - | 1 | Loss | - |
RNASEH2B | - | - | - | - | 1 | Loss | - |
RND3 | - | - | - | - | 1 | Loss | - |
RNF103 | - | - | - | - | 1 | Loss | - |
RNF103-CHMP3 | - | - | - | - | 1 | Loss | - |
RNF111 | - | - | - | - | 3 | Gain | - |
RNF113B | - | - | - | - | 1 | Loss | - |
RNF122 | - | - | - | - | 1 | Loss | - |
RNF123 | - | - | - | - | 1 | Loss | - |
RNF125 | - | - | - | - | 1 | Loss | - |
RNF130 | - | - | - | - | 3 | Gain | - |
RNF138 | - | - | - | - | 1 | Loss | - |
RNF14 | - | - | - | - | 1 | Loss | - |
RNF141 | - | - | - | - | 1 | Loss | - |
RNF144A | - | - | - | - | 1 | Loss | - |
RNF145 | - | - | - | - | 3 | Gain | - |
RNF149 | - | - | - | - | 3 | Gain | - |
RNF152 | - | - | - | - | 1 | Loss | - |
RNF157 | - | - | - | - | 1 | Loss | - |
RNF165 | - | - | - | - | 1 | Loss | - |
RNF180 | p.C90F | Missense | SNP | 0.593 | 1 | Loss | - |
RNF181 | - | - | - | - | 3 | Gain | - |
RNF2 | - | - | - | - | 3 | Gain | - |
RNF213 | p.P2511L | Missense | SNP | 0.498 | 3 | Gain | - |
RNF216 | - | - | - | - | 1 | Loss | - |
RNF219 | - | - | - | - | 1 | Loss | - |
RNF25 | - | - | - | - | 1 | Loss | - |
RNF40 | p.F187L | Missense | SNP | 0.444 | 2 | - | - |
RNF44 | - | - | - | - | 3 | Gain | - |
RNFT1 | - | - | - | - | 3 | Gain | - |
RNH1 | - | - | - | - | 1 | Loss | - |
RNMT | - | - | - | - | 1 | Loss | - |
RNPC3 | - | - | - | - | 3 | Gain | - |
RNPEPL1 | - | - | - | - | 1 | Loss | - |
ROBO1 | - | - | - | - | 1 | Loss | - |
ROBO2 | - | - | - | - | 1 | Loss | - |
ROCK2 | - | - | - | - | 1 | Loss | - |
RORA | - | - | - | - | 1 | Loss | - |
ROS1 | p.T1553N | Missense | SNP | 0.429 | 2 | - | - |
RP1 | p.P1795Q p.S797N | Missense Missense | SNP SNP | 0.434 0.298 | 2 | - | - |
RP11-240B13.2 | p.G682E p.X349_splice p.P270S | Missense Splice_Site Missense | SNP SNP SNP | 0.238 0.395 0.280 | ND | ND | - |
RP11-457D20.2 | p.L51F | Missense | SNP | 0.549 | ND | ND | - |
RP1L1 | p.P1672S | Missense | SNP | 1.000 | 1 | Loss | - |
RP5-994D16.11 | p.G117E | Missense | SNP | 0.321 | ND | ND | - |
RP9 | - | - | - | - | 1 | Loss | - |
RPA3 | - | - | - | - | 1 | Loss | - |
RPAP1 | - | - | - | - | 1 | Loss | - |
RPAP2 | - | - | - | - | 3 | Gain | - |
RPE | - | - | - | - | 1 | Loss | - |
RPGRIP1L | p.S886L | Missense | SNP | 0.386 | 2 | - | - |
RPIA | - | - | - | - | 1 | Loss | - |
RPL13A | - | - | - | - | 3 | Gain | - |
RPL14 | - | - | - | - | 1 | Loss | - |
RPL15 | - | - | - | - | 1 | Loss | - |
RPL17 | - | - | - | - | 1 | Loss | - |
RPL17-C18orf32 | - | - | - | - | 1 | Loss | - |
RPL18 | - | - | - | - | 3 | Gain | - |
RPL26L1 | - | - | - | - | 3 | Gain | - |
RPL27A | - | - | - | - | 1 | Loss | - |
RPL28 | - | - | - | - | 3 | Gain | - |
RPL29 | - | - | - | - | 1 | Loss | - |
RPL31 | - | - | - | - | 3 | Gain | - |
RPL32 | - | - | - | - | 1 | Loss | - |
RPL34 | - | - | - | - | 1 | Loss | - |
RPL37A | - | - | - | - | 1 | Loss | - |
RPL38 | - | - | - | - | 3 | Gain | - |
RPL4 | - | - | - | - | 3 | Gain | - |
RPL5 | - | - | - | - | 3 | Gain | - |
RPL8 | - | - | - | - | 3 | Gain | - |
RPL9 | - | - | - | - | 1 | Loss | - |
RPLP1 | - | - | - | - | 3 | Gain | - |
RPLP2 | - | - | - | - | 1 | Loss | - |
RPP14 | - | - | - | - | 1 | Loss | - |
RPP25 | - | - | - | - | 3 | Gain | - |
RPP38 | - | - | - | - | 1 | Loss | - |
RPP40 | p.M142I | Missense | SNP | 0.759 | 2 | - | - |
RPRD1A | - | - | - | - | 1 | Loss | - |
RPRM | - | - | - | - | 1 | Loss | - |
RPS11 | - | - | - | - | 3 | Gain | - |
RPS13 | - | - | - | - | 1 | Loss | - |
RPS14 | - | - | - | - | 1 | Loss | - |
RPS17 | - | - | - | - | 3 | Gain | - |
RPS23 | - | - | - | - | 1 | Loss | - |
RPS27L | - | - | - | - | 3 | Gain | - |
RPS6KA4 | p.P289L | Missense | SNP | 0.520 | 2 | - | - |
RPS6KB1 | - | - | - | - | 3 | Gain | - |
RPS7 | - | - | - | - | 1 | Loss | - |
RPS9 | - | - | - | - | 3 | Gain | - |
RPSA | - | - | - | - | 1 | Loss | - |
RPTN | - | - | - | - | 3 | Gain | - |
RPTOR | p.T269I | Missense | SNP | 0.454 | 3 | Gain | - |
RPUSD2 | - | - | - | - | 1 | Loss | - |
RPUSD3 | - | - | - | - | 1 | Loss | - |
RRAS | - | - | - | - | 3 | Gain | - |
RRAS2 | - | - | - | - | 1 | Loss | - |
RREB1 | p.P1003L | Missense | SNP | 0.654 | 2 | - | - |
RRH | - | - | - | - | 1 | Loss | - |
RRM1 | - | - | - | - | 1 | Loss | - |
RRM2 | - | - | - | - | 1 | Loss | - |
RRP1 | - | - | - | - | 1 | Loss | - |
RRP1B | - | - | - | - | 1 | Loss | - |
RRP8 | - | - | - | - | 1 | Loss | - |
RRP9 | - | - | - | - | 1 | Loss | - |
RSAD2 | - | - | - | - | 1 | Loss | - |
RSBN1 | - | - | - | - | 3 | Gain | - |
RSL24D1 | - | - | - | - | 3 | Gain | - |
RSPH1 | - | - | - | - | 1 | Loss | - |
RSPH10B | p.E785K | Missense | SNP | 0.291 | 1 | Loss | - |
RSPH10B2 | - | - | - | - | 1 | Loss | - |
RSPRY1 | p.F494C | Missense | SNP | 0.483 | 2 | - | - |
RSU1 | - | - | - | - | 1 | Loss | - |
RTCA | - | - | - | - | 3 | Gain | - |
RTEL1 | - | - | - | - | 3 | Gain | - |
RTEL1-TNFRSF6B | - | - | - | - | 3 | Gain | - |
RTF1 | - | - | - | - | 1 | Loss | - |
RTKN | - | - | - | - | 1 | Loss | - |
RTL1 | p.A543V | Missense | SNP | 0.420 | 2 | - | - |
RTN3 | p.L72F | Missense | SNP | 0.536 | 2 | - | - |
RTN4 | p.P982S | Missense | SNP | 0.566 | 1 | Loss | - |
RTN4R | p.P123S | Missense | SNP | 0.293 | 2 | - | - |
RTP3 | - | - | - | - | 1 | Loss | - |
RTP4 | p.P135S | Missense | SNP | 0.537 | 2 | - | - |
RTP5 | - | - | - | - | 1 | Loss | - |
RTTN | - | - | - | - | 1 | Loss | - |
RUBCN | p.P903F p.R140W | Missense Missense | MNP SNP | 0.500 0.528 | 2 | - | - |
RUBCNL | - | - | - | - | 1 | Loss | - |
RUFY1 | - | - | - | - | 3 | Gain | - |
RUFY4 | - | - | - | - | 1 | Loss | - |
RUNX1 | - | - | - | - | 1 | Loss | - |
RUNX2 | p.T198I p.P466L | Missense Missense | SNP SNP | 0.675 0.430 | 2 | - | - |
RUVBL2 | - | - | - | - | 3 | Gain | - |
RWDD2B | - | - | - | - | 1 | Loss | - |
RWDD3 | - | - | - | - | 3 | Gain | - |
RXFP2 | - | - | - | - | 1 | Loss | - |
RYBP | - | - | - | - | 1 | Loss | - |
RYR1 | p.S257F | Missense | SNP | 0.500 | 2 | - | - |
RYR2 | p.E1648K p.R3495Q p.T4027M | Missense Missense Missense | SNP SNP SNP | 0.451 0.356 0.543 | 2 | - | - |
RYR3 | p.R723Q p.P1599S p.E2533K | Missense Missense Missense | SNP SNP SNP | 0.630 0.430 0.167 | 2 | - | - |
S100A10 | - | - | - | - | 3 | Gain | - |
S100A11 | - | - | - | - | 3 | Gain | - |
S100B | - | - | - | - | 1 | Loss | - |
S100Z | - | - | - | - | 1 | Loss | - |
S1PR1 | - | - | - | - | 3 | Gain | - |
SAA1 | - | - | - | - | 1 | Loss | - |
SAA2 | - | - | - | - | 1 | Loss | - |
SAA2-SAA4 | - | - | - | - | 1 | Loss | - |
SAA4 | - | - | - | - | 1 | Loss | - |
SAAL1 | - | - | - | - | 1 | Loss | - |
SACM1L | - | - | - | - | 1 | Loss | - |
SACS | p.P536L | Missense | MNP | 0.411 | 2 | - | - |
SAG | - | - | - | - | 1 | Loss | - |
SALL1 | - | - | - | - | 1 | Loss | - |
SALL2 | p.E760K | Missense | SNP | 0.525 | 2 | - | - |
SALL3 | p.E927K | Missense | SNP | 0.581 | 1 | Loss | - |
SAMD10 | - | - | - | - | 3 | Gain | - |
SAMD9L | p.S923F | Missense | SNP | 0.442 | 2 | - | - |
SAP130 | p.P780S | Missense | SNP | 0.306 | 3 | Gain | - |
SAP30BP | - | - | - | - | 3 | Gain | - |
SAP30L | - | - | - | - | 1 | Loss | - |
SAR1B | - | - | - | - | 1 | Loss | - |
SARAF | - | - | - | - | 1 | Loss | - |
SARS | - | - | - | - | 3 | Gain | - |
SASS6 | - | - | - | - | 3 | Gain | - |
SATB1 | - | - | - | - | 1 | Loss | - |
SATB2 | - | - | - | - | 1 | Loss | - |
SAXO2 | - | - | - | - | 3 | Gain | - |
SBF2 | - | - | - | - | 1 | Loss | - |
SBK1 | p.G398M | Missense | MNP | 0.507 | 2 | - | - |
SBK2 | - | - | - | - | 3 | Gain | - |
SBK3 | - | - | - | - | 3 | Gain | - |
SBSN | p.G323E | Missense | SNP | 0.540 | 2 | - | - |
SC5D | p.R74C | Missense | SNP | 0.175 | 2 | - | - |
SCAF1 | p.S239F | Missense | SNP | 0.370 | 3 | Gain | - |
SCAF4 | - | - | - | - | 1 | Loss | - |
SCAI | p.S276L | Missense | SNP | 0.198 | 2 | - | - |
SCAMP1 | - | - | - | - | 1 | Loss | - |
SCAMP2 | - | - | - | - | 3 | Gain | - |
SCAMP5 | - | - | - | - | 3 | Gain | - |
SCAP | - | - | - | - | 1 | Loss | - |
SCAPER | - | - | - | - | 3 | Gain | - |
SCARA3 | p.S168F | Missense | SNP | 0.991 | 1 | Loss | - |
SCARA5 | - | - | - | - | 1 | Loss | - |
SCART1 | - | - | - | - | 3 | Gain | - |
SCD5 | - | - | - | - | 1 | Loss | - |
SCEL | - | - | - | - | 1 | Loss | - |
SCG2 | - | - | - | - | 1 | Loss | - |
SCG3 | - | - | - | - | 1 | Loss | - |
SCGB1C1 | - | - | - | - | 1 | Loss | - |
SCGB3A1 | - | - | - | - | 3 | Gain | - |
SCGB3A2 | - | - | - | - | 1 | Loss | - |
SCGN | p.E101K | Missense | SNP | 0.760 | 2 | - | - |
SCIN | - | - | - | - | 1 | Loss | - |
SCLT1 | p.E260Q | Missense | SNP | 0.542 | 2 | - | - |
SCLY | - | - | - | - | 1 | Loss | - |
SCN10A | - | - | - | - | 1 | Loss | - |
SCN11A | - | - | - | - | 1 | Loss | - |
SCN1A | - | - | - | - | 1 | Loss | - |
SCN2A | - | - | - | - | 1 | Loss | - |
SCN3A | - | - | - | - | 1 | Loss | - |
SCN4A | p.P936L | Missense | SNP | 0.462 | 3 | Gain | - |
SCN5A | - | - | - | - | 1 | Loss | - |
SCN7A | p.V720I | Missense | SNP | 1.000 | 1 | Loss | - |
SCN8A | p.A1809Qfs*29 | Frame_Shift_Del | DEL | 0.399 | 2 | - | - |
SCN9A | - | - | - | - | 1 | Loss | - |
SCRIB | - | - | - | - | 3 | Gain | - |
SCRN1 | - | - | - | - | 13 | Amp | - |
SCRN3 | - | - | - | - | 1 | Loss | - |
SCRT1 | - | - | - | - | 3 | Gain | - |
SCT | - | - | - | - | 1 | Loss | - |
SCTR | - | - | - | - | 3 | Gain | - |
SCUBE2 | - | - | - | - | 1 | Loss | - |
SDC1 | - | - | - | - | 1 | Loss | - |
SDK1 | - | - | - | - | 1 | Loss | - |
SDK2 | - | - | - | - | 3 | Gain | - |
SDS | p.R51K | Missense | SNP | 0.222 | 2 | - | - |
SEC11A | - | - | - | - | 3 | Gain | - |
SEC11C | - | - | - | - | 1 | Loss | - |
SEC13 | - | - | - | - | 1 | Loss | - |
SEC14L1 | - | - | - | - | 3 | Gain | - |
SEC22B | - | - | - | - | 3 | Gain | - |
SEC22C | - | - | - | - | 1 | Loss | - |
SEC24A | - | - | - | - | 1 | Loss | - |
SEC24B | - | - | - | - | 1 | Loss | - |
SEC24D | - | - | - | - | 1 | Loss | - |
SEC31A | - | - | - | - | 1 | Loss | - |
SEC31B | p.P1028S p.P380S | Missense Missense | SNP SNP | 0.429 0.644 | 2 | - | - |
SEC61A2 | p.S305F | Missense | SNP | 0.713 | 1 | Loss | - |
SEC61G | - | - | - | - | 1 | Loss | - |
SECISBP2L | - | - | - | - | 1 | Loss | - |
SECTM1 | - | - | - | - | 3 | Gain | - |
SEH1L | - | - | - | - | 1 | Loss | - |
SEL1L | p.R319C | Missense | SNP | 0.478 | 2 | - | - |
SELENOI | - | - | - | - | 1 | Loss | - |
SELENOK | - | - | - | - | 1 | Loss | - |
SELENOS | - | - | - | - | 3 | Gain | - |
SEMA3B | - | - | - | - | 1 | Loss | - |
SEMA3E | p.X486_splice p.P52S | Splice_Site Missense | SNP SNP | 0.625 0.486 | 2 | - | - |
SEMA3F | - | - | - | - | 1 | Loss | - |
SEMA3G | p.G362E | Missense | SNP | 0.983 | 1 | Loss | - |
SEMA4B | - | - | - | - | 3 | Gain | - |
SEMA4C | - | - | - | - | 3 | Gain | - |
SEMA4F | - | - | - | - | 1 | Loss | - |
SEMA4G | p.X215_splice | Splice_Site | SNP | 0.308 | 2 | - | - |
SEMA5B | p.R872K | Missense | SNP | 0.565 | 2 | - | - |
SEMA6A | - | - | - | - | 1 | Loss | - |
SEMA6D | - | - | - | - | 1 | Loss | - |
SEMA7A | - | - | - | - | 3 | Gain | - |
SENP8 | - | - | - | - | 3 | Gain | - |
SEPHS1 | - | - | - | - | 1 | Loss | - |
SEPT1 | p.E242K | Missense | SNP | 0.469 | 2 | - | - |
SEPT10 | - | - | - | - | 3 | Gain | - |
SEPT14 | - | - | - | - | 13 | Amp | - |
SEPT2 | - | - | - | - | 1 | Loss | - |
SEPT3 | p.P31L | Missense | SNP | 0.543 | 2 | - | - |
SEPT7 | - | - | - | - | 1 | Loss | - |
SEPT8 | - | - | - | - | 1 | Loss | - |
SEPT9 | - | - | - | - | 3 | Gain | - |
SERF1A | - | - | - | - | 1 | Loss | - |
SERF1B | - | - | - | - | 1 | Loss | - |
SERF2 | - | - | - | - | 1 | Loss | - |
SERGEF | - | - | - | - | 1 | Loss | - |
SERINC4 | - | - | - | - | 1 | Loss | - |
SERINC5 | - | - | - | - | 1 | Loss | - |
SERP2 | - | - | - | - | 1 | Loss | - |
SERPINB10 | - | - | - | - | 1 | Loss | - |
SERPINB11 | - | - | - | - | 1 | Loss | - |
SERPINB12 | - | - | - | - | 1 | Loss | - |
SERPINB13 | - | - | - | - | 1 | Loss | - |
SERPINB2 | - | - | - | - | 1 | Loss | - |
SERPINB3 | - | - | - | - | 1 | Loss | - |
SERPINB4 | - | - | - | - | 1 | Loss | - |
SERPINB5 | - | - | - | - | 1 | Loss | - |
SERPINB7 | - | - | - | - | 1 | Loss | - |
SERPINB8 | - | - | - | - | 1 | Loss | - |
SERPINE2 | - | - | - | - | 1 | Loss | - |
SERPINE3 | p.G331E | Missense | SNP | 0.463 | 1 | Loss | - |
SERPING1 | p.P114S | Missense | SNP | 0.441 | 2 | - | - |
SERPINI1 | p.R362K | Missense | SNP | 0.270 | 2 | - | - |
SERTAD2 | - | - | - | - | 1 | Loss | - |
SERTM1 | - | - | - | - | 1 | Loss | - |
SESTD1 | - | - | - | - | 1 | Loss | - |
SETBP1 | - | - | - | - | 1 | Loss | - |
SETD1B | p.S534F | Missense | SNP | 0.441 | 2 | - | - |
SETD2 | - | - | - | - | 1 | Loss | - |
SETD4 | - | - | - | - | 1 | Loss | - |
SETD5 | - | - | - | - | 1 | Loss | - |
SETD9 | - | - | - | - | 1 | Loss | - |
SETDB2 | - | - | - | - | 1 | Loss | - |
SETMAR | - | - | - | - | 1 | Loss | - |
SEZ6L | p.T274I | Missense | SNP | 0.453 | 2 | - | - |
SEZ6L2 | p.R335Q | Missense | SNP | 0.516 | 2 | - | - |
SF3B1 | - | - | - | - | 1 | Loss | - |
SF3B6 | - | - | - | - | 1 | Loss | - |
SFMBT1 | - | - | - | - | 1 | Loss | - |
SFMBT2 | p.R756Q | Missense | SNP | 0.262 | 1 | Loss | - |
SFRP4 | - | - | - | - | 1 | Loss | - |
SFTPB | - | - | - | - | 1 | Loss | - |
SFTPC | - | - | - | - | 1 | Loss | - |
SFXN1 | - | - | - | - | 3 | Gain | - |
SFXN5 | - | - | - | - | 1 | Loss | - |
SGCD | - | - | - | - | 1 | Loss | - |
SGCZ | - | - | - | - | 1 | Loss | - |
SGMS2 | - | - | - | - | 1 | Loss | - |
SGO1 | - | - | - | - | 1 | Loss | - |
SGO2 | - | - | - | - | 1 | Loss | - |
SGPP2 | - | - | - | - | 1 | Loss | - |
SGSH | - | - | - | - | 3 | Gain | - |
SGTB | - | - | - | - | 1 | Loss | - |
SH2D4A | - | - | - | - | 1 | Loss | - |
SH2D6 | - | - | - | - | 3 | Gain | - |
SH2D7 | - | - | - | - | 3 | Gain | - |
SH3BGR | - | - | - | - | 1 | Loss | - |
SH3BP4 | - | - | - | - | 1 | Loss | - |
SH3BP5 | - | - | - | - | 1 | Loss | - |
SH3GL3 | - | - | - | - | 3 | Gain | - |
SH3KBP1 | p.G80E | Missense | SNP | 1.000 | ND | ND | - |
SH3PXD2B | - | - | - | - | 3 | Gain | - |
SH3RF2 | - | - | - | - | 1 | Loss | - |
SH3RF3 | - | - | - | - | 3 | Gain | - |
SH3TC2 | - | - | - | - | 1 | Loss | - |
SH3YL1 | - | - | - | - | 1 | Loss | - |
SHANK1 | p.G1955E p.E1841K p.P932S | Missense Missense Missense | SNP SNP SNP | 0.224 0.291 0.300 | 3 | Gain | - |
SHARPIN | - | - | - | - | 3 | Gain | - |
SHBG | p.S251F | Missense | SNP | 0.551 | 2 | - | - |
SHC4 | p.X495_splice | Splice_Site | SNP | 1.000 | 1 | Loss | - |
SHCBP1L | - | - | - | - | 3 | Gain | - |
SHF | - | - | - | - | 1 | Loss | - |
SHISA3 | - | - | - | - | 1 | Loss | - |
SHISA5 | - | - | - | - | 1 | Loss | - |
SHISA7 | - | - | - | - | 3 | Gain | - |
SHISA9 | p.S92L | Missense | SNP | 0.459 | 2 | - | - |
SHISAL2B | - | - | - | - | 1 | Loss | - |
SHLD3 | - | - | - | - | 1 | Loss | - |
SHQ1 | - | - | - | - | 1 | Loss | - |
SHROOM1 | - | - | - | - | 1 | Loss | - |
SIAH3 | - | - | - | - | 1 | Loss | - |
SIGIRR | - | - | - | - | 1 | Loss | - |
SIGLEC1 | p.D797N | Missense | SNP | 0.720 | 2 | - | - |
SIGLEC10 | - | - | - | - | 3 | Gain | - |
SIGLEC11 | - | - | - | - | 3 | Gain | - |
SIGLEC12 | - | - | - | - | 3 | Gain | - |
SIGLEC14 | - | - | - | - | 3 | Gain | - |
SIGLEC15 | - | - | - | - | 1 | Loss | - |
SIGLEC5 | - | - | - | - | 3 | Gain | - |
SIGLEC6 | p.G154E | Missense | SNP | 0.357 | 3 | Gain | - |
SIGLEC7 | - | - | - | - | 3 | Gain | - |
SIGLEC8 | p.A371T p.G184E | Missense Missense | SNP SNP | 0.243 0.296 | 3 | Gain | - |
SIGLEC9 | - | - | - | - | 3 | Gain | - |
SIGLECL1 | - | - | - | - | 3 | Gain | - |
SIK1 | - | - | - | - | 1 | Loss | - |
SIK1B | - | - | - | - | 1 | Loss | - |
SIKE1 | - | - | - | - | 3 | Gain | - |
SIL1 | - | - | - | - | 1 | Loss | - |
SIM2 | - | - | - | - | 1 | Loss | - |
SIMC1 | - | - | - | - | 3 | Gain | - |
SIN3A | - | - | - | - | 3 | Gain | - |
SIRT3 | - | - | - | - | 1 | Loss | - |
SIRT7 | - | - | - | - | 3 | Gain | - |
SIX2 | - | - | - | - | 1 | Loss | - |
SIX3 | - | - | - | - | 1 | Loss | - |
SKA1 | - | - | - | - | 1 | Loss | - |
SKAP2 | - | - | - | - | 1 | Loss | - |
SKIDA1 | - | - | - | - | 1 | Loss | - |
SKOR1 | - | - | - | - | 3 | Gain | - |
SKOR2 | - | - | - | - | 1 | Loss | - |
SKP1 | - | - | - | - | 1 | Loss | - |
SLA | - | - | - | - | 3 | Gain | - |
SLAIN1 | - | - | - | - | 1 | Loss | - |
SLAIN2 | - | - | - | - | 1 | Loss | - |
SLAMF8 | p.G91E | Missense | SNP | 0.589 | 2 | - | - |
SLC10A2 | - | - | - | - | 1 | Loss | - |
SLC10A4 | - | - | - | - | 1 | Loss | - |
SLC10A6 | - | - | - | - | 1 | Loss | - |
SLC11A1 | - | - | - | - | 1 | Loss | - |
SLC12A1 | - | - | - | - | 1 | Loss | - |
SLC12A2 | - | - | - | - | 1 | Loss | - |
SLC12A3 | p.R145C | Missense | SNP | 0.395 | 2 | - | - |
SLC12A5 | p.D897N | Missense | SNP | 0.442 | 2 | - | - |
SLC14A1 | - | - | - | - | 1 | Loss | - |
SLC14A2 | - | - | - | - | 1 | Loss | - |
SLC15A1 | p.X473_splice | Splice_Site | SNP | 1.000 | 1 | Loss | - |
SLC15A5 | - | - | - | - | 1 | Loss | - |
SLC16A1 | - | - | - | - | 3 | Gain | - |
SLC16A14 | - | - | - | - | 1 | Loss | - |
SLC16A3 | - | - | - | - | 3 | Gain | - |
SLC16A4 | - | - | - | - | 3 | Gain | - |
SLC16A5 | - | - | - | - | 3 | Gain | - |
SLC16A6 | - | - | - | - | 3 | Gain | - |
SLC16A7 | p.L241F | Missense | SNP | 0.406 | 2 | - | - |
SLC16A9 | p.S19F | Missense | SNP | 0.489 | 2 | - | - |
SLC17A6 | - | - | - | - | 1 | Loss | - |
SLC17A7 | - | - | - | - | 3 | Gain | - |
SLC18A1 | - | - | - | - | 1 | Loss | - |
SLC19A1 | - | - | - | - | 1 | Loss | - |
SLC19A3 | - | - | - | - | 1 | Loss | - |
SLC1A4 | - | - | - | - | 1 | Loss | - |
SLC20A1 | - | - | - | - | 3 | Gain | - |
SLC22A13 | - | - | - | - | 1 | Loss | - |
SLC22A14 | - | - | - | - | 1 | Loss | - |
SLC22A15 | - | - | - | - | 3 | Gain | - |
SLC22A18 | - | - | - | - | 1 | Loss | - |
SLC22A18AS | - | - | - | - | 1 | Loss | - |
SLC22A3 | p.L395F | Missense | SNP | 0.679 | 2 | - | - |
SLC22A4 | - | - | - | - | 1 | Loss | - |
SLC22A5 | - | - | - | - | 1 | Loss | - |
SLC22A6 | p.G301K | Missense | MNP | 0.429 | 2 | - | - |
SLC23A1 | - | - | - | - | 1 | Loss | - |
SLC23A3 | - | - | - | - | 1 | Loss | - |
SLC24A1 | - | - | - | - | 3 | Gain | - |
SLC24A5 | - | - | - | - | 1 | Loss | - |
SLC25A10 | - | - | - | - | 3 | Gain | - |
SLC25A12 | - | - | - | - | 1 | Loss | - |
SLC25A15 | - | - | - | - | 1 | Loss | - |
SLC25A16 | p.L225F | Missense | SNP | 0.459 | 2 | - | - |
SLC25A19 | - | - | - | - | 3 | Gain | - |
SLC25A2 | - | - | - | - | 1 | Loss | - |
SLC25A20 | - | - | - | - | 1 | Loss | - |
SLC25A22 | - | - | - | - | 1 | Loss | - |
SLC25A24 | - | - | - | - | 3 | Gain | - |
SLC25A26 | - | - | - | - | 1 | Loss | - |
SLC25A30 | - | - | - | - | 1 | Loss | - |
SLC25A31 | - | - | - | - | 1 | Loss | - |
SLC25A37 | - | - | - | - | 1 | Loss | - |
SLC25A38 | - | - | - | - | 1 | Loss | - |
SLC25A46 | - | - | - | - | 1 | Loss | - |
SLC25A48 | - | - | - | - | 1 | Loss | - |
SLC25A52 | p.T299A | Missense | SNP | 0.330 | 1 | Loss | - |
SLC26A10 | p.L15V | Missense | SNP | 0.533 | 2 | - | - |
SLC26A11 | - | - | - | - | 3 | Gain | - |
SLC26A2 | - | - | - | - | 1 | Loss | - |
SLC26A6 | - | - | - | - | 1 | Loss | - |
SLC27A2 | - | - | - | - | 1 | Loss | - |
SLC27A4 | p.L229F | Missense | SNP | 1.000 | 2 | - | - |
SLC27A5 | - | - | - | - | 3 | Gain | - |
SLC27A6 | - | - | - | - | 1 | Loss | - |
SLC28A1 | - | - | - | - | 3 | Gain | - |
SLC28A2 | - | - | - | - | 1 | Loss | - |
SLC29A4 | - | - | - | - | 1 | Loss | - |
SLC2A10 | p.L79F | Missense | SNP | 0.419 | 2 | - | - |
SLC2A2 | p.E209K | Missense | SNP | 0.473 | 2 | - | - |
SLC2A4RG | - | - | - | - | 3 | Gain | - |
SLC2A7 | p.S34* | Nonsense | SNP | 0.330 | 2 | - | - |
SLC30A3 | - | - | - | - | 1 | Loss | - |
SLC30A4 | - | - | - | - | 1 | Loss | - |
SLC30A5 | - | - | - | - | 1 | Loss | - |
SLC30A6 | - | - | - | - | 1 | Loss | - |
SLC30A7 | - | - | - | - | 3 | Gain | - |
SLC30A8 | p.R331W | Missense | SNP | 0.438 | 2 | - | - |
SLC30A9 | - | - | - | - | 1 | Loss | - |
SLC32A1 | p.E524K | Missense | SNP | 0.565 | 2 | - | - |
SLC34A1 | - | - | - | - | 3 | Gain | - |
SLC35A3 | - | - | - | - | 3 | Gain | - |
SLC35A4 | - | - | - | - | 1 | Loss | - |
SLC35F5 | - | - | - | - | 3 | Gain | - |
SLC35F6 | - | - | - | - | 1 | Loss | - |
SLC35G4 | - | - | - | - | 1 | Loss | - |
SLC35G5 | - | - | - | - | 1 | Loss | - |
SLC36A1 | - | - | - | - | 1 | Loss | - |
SLC36A2 | - | - | - | - | 1 | Loss | - |
SLC36A3 | - | - | - | - | 1 | Loss | - |
SLC37A1 | p.T370P | Missense | SNP | 0.432 | 1 | Loss | - |
SLC38A10 | p.G81N | Missense | MNP | 0.413 | 3 | Gain | - |
SLC38A11 | - | - | - | - | 1 | Loss | - |
SLC38A3 | - | - | - | - | 1 | Loss | - |
SLC38A4 | p.L519F | Missense | SNP | 0.521 | 2 | - | - |
SLC38A7 | p.R344L | Missense | SNP | 0.548 | 2 | - | - |
SLC38A9 | - | - | - | - | 1 | Loss | - |
SLC39A10 | - | - | - | - | 1 | Loss | - |
SLC39A11 | - | - | - | - | 3 | Gain | - |
SLC39A12 | - | - | - | - | 1 | Loss | - |
SLC39A14 | - | - | - | - | 1 | Loss | - |
SLC39A4 | - | - | - | - | 3 | Gain | - |
SLC39A6 | - | - | - | - | 1 | Loss | - |
SLC39A8 | - | - | - | - | 1 | Loss | - |
SLC39A9 | p.S128F | Missense | SNP | 0.475 | 2 | - | - |
SLC3A1 | - | - | - | - | 1 | Loss | - |
SLC40A1 | - | - | - | - | 1 | Loss | - |
SLC44A1 | p.X224_splice | Splice_Site | SNP | 0.960 | 2 | - | - |
SLC44A3 | - | - | - | - | 3 | Gain | - |
SLC45A4 | - | - | - | - | 3 | Gain | - |
SLC46A3 | - | - | - | - | 1 | Loss | - |
SLC4A10 | - | - | - | - | 1 | Loss | - |
SLC4A1AP | - | - | - | - | 1 | Loss | - |
SLC4A3 | - | - | - | - | 1 | Loss | - |
SLC4A5 | - | - | - | - | 1 | Loss | - |
SLC4A7 | - | - | - | - | 1 | Loss | - |
SLC4A9 | - | - | - | - | 1 | Loss | - |
SLC51B | - | - | - | - | 3 | Gain | - |
SLC52A2 | - | - | - | - | 3 | Gain | - |
SLC5A12 | - | - | - | - | 1 | Loss | - |
SLC5A2 | p.W172* | Nonsense | SNP | 0.462 | 2 | - | - |
SLC5A3 | - | - | - | - | 1 | Loss | - |
SLC5A6 | - | - | - | - | 1 | Loss | - |
SLC5A7 | p.S568F | Missense | SNP | 0.667 | 3 | Gain | - |
SLC6A1 | - | - | - | - | 1 | Loss | - |
SLC6A11 | - | - | - | - | 1 | Loss | - |
SLC6A15 | p.T616A | Missense | SNP | 0.488 | 2 | - | - |
SLC6A16 | - | - | - | - | 3 | Gain | - |
SLC6A17 | - | - | - | - | 3 | Gain | - |
SLC6A20 | - | - | - | - | 1 | Loss | - |
SLC6A5 | - | - | - | - | 1 | Loss | - |
SLC6A6 | p.S253F | Missense | SNP | 0.974 | 1 | Loss | - |
SLC6A7 | - | - | - | - | 1 | Loss | - |
SLC6A9 | p.P34S | Missense | SNP | 0.309 | 2 | - | - |
SLC7A1 | - | - | - | - | 1 | Loss | - |
SLC7A2 | - | - | - | - | 1 | Loss | - |
SLC7A4 | p.P453S | Missense | SNP | 0.554 | 2 | - | - |
SLC7A9 | p.Q27* | Nonsense | SNP | 0.548 | 2 | - | - |
SLC8A1 | - | - | - | - | 1 | Loss | - |
SLC8A3 | p.E496K | Missense | SNP | 0.557 | 2 | - | - |
SLC9A1 | - | - | - | - | 1 | Loss | - |
SLC9A2 | - | - | - | - | 3 | Gain | - |
SLC9A3R1 | - | - | - | - | 3 | Gain | - |
SLC9A3R2 | p.D286N | Missense | SNP | 0.449 | 2 | - | - |
SLC9A4 | - | - | - | - | 3 | Gain | - |
SLC9B1 | - | - | - | - | 1 | Loss | - |
SLC9B2 | - | - | - | - | 1 | Loss | - |
SLCO1A2 | - | - | - | - | 1 | Loss | - |
SLCO1B1 | - | - | - | - | 1 | Loss | - |
SLCO1B3 | - | - | - | - | 1 | Loss | - |
SLCO1B7 | - | - | - | - | 1 | Loss | - |
SLCO1C1 | - | - | - | - | 1 | Loss | - |
SLCO3A1 | - | - | - | - | 3 | Gain | - |
SLCO4C1 | - | - | - | - | 1 | Loss | - |
SLCO6A1 | - | - | - | - | 1 | Loss | - |
SLF1 | - | - | - | - | 1 | Loss | - |
SLIT1 | p.S527F p.P325L | Missense Missense | SNP SNP | 0.620 0.592 | 2 | - | - |
SLIT2 | - | - | - | - | 0 | Del | - |
SLIT3 | - | - | - | - | 3 | Gain | - |
SLITRK1 | - | - | - | - | 1 | Loss | - |
SLITRK5 | p.G272E | Missense | SNP | 0.455 | 1 | Loss | - |
SLITRK6 | - | - | - | - | 1 | Loss | - |
SLMAP | - | - | - | - | 1 | Loss | - |
SLTM | - | - | - | - | 3 | Gain | - |
SLU7 | - | - | - | - | 3 | Gain | - |
SLURP1 | - | - | - | - | 3 | Gain | - |
SLURP2 | - | - | - | - | 3 | Gain | - |
SMAD2 | - | - | - | - | 1 | Loss | - |
SMAD3 | - | - | - | - | 3 | Gain | - |
SMAD4 | - | - | - | - | 1 | Loss | - |
SMAD5 | - | - | - | - | 1 | Loss | - |
SMAD6 | - | - | - | - | 3 | Gain | - |
SMAD7 | - | - | - | - | 1 | Loss | - |
SMAD9 | - | - | - | - | 1 | Loss | - |
SMARCAD1 | - | - | - | - | 1 | Loss | - |
SMARCAL1 | - | - | - | - | 1 | Loss | - |
SMARCC1 | - | - | - | - | 1 | Loss | - |
SMARCD2 | - | - | - | - | 3 | Gain | - |
SMC6 | p.R725G | Missense | SNP | 0.467 | 1 | Loss | - |
SMCHD1 | - | - | - | - | 1 | Loss | - |
SMCO3 | - | - | - | - | 1 | Loss | - |
SMG1 | p.P1833S | Missense | SNP | 0.250 | 2 | - | - |
SMG6 | p.E164* p.D111N p.P69S | Nonsense Missense Missense | SNP SNP SNP | 0.472 0.372 0.423 | 2 | - | - |
SMG7 | - | - | - | - | 3 | Gain | - |
SMIM11A | - | - | - | - | 1 | Loss | - |
SMIM11B | - | - | - | - | 1 | Loss | - |
SMIM14 | - | - | - | - | 1 | Loss | - |
SMIM15 | - | - | - | - | 1 | Loss | - |
SMIM17 | - | - | - | - | 3 | Gain | - |
SMIM18 | - | - | - | - | 1 | Loss | - |
SMIM2 | - | - | - | - | 1 | Loss | - |
SMIM21 | p.D72N | Missense | SNP | 0.436 | 1 | Loss | - |
SMIM23 | - | - | - | - | 3 | Gain | - |
SMIM3 | - | - | - | - | 1 | Loss | - |
SMIM32 | - | - | - | - | 1 | Loss | - |
SMIM33 | - | - | - | - | 1 | Loss | - |
SMIM34A | - | - | - | - | 1 | Loss | - |
SMIM34B | - | - | - | - | 1 | Loss | - |
SMIM4 | - | - | - | - | 1 | Loss | - |
SMIM5 | - | - | - | - | 3 | Gain | - |
SMIM6 | p.G23R | Missense | SNP | 0.412 | 3 | Gain | - |
SMN1 | - | - | - | - | 1 | Loss | - |
SMN2 | - | - | - | - | 1 | Loss | - |
SMOC1 | p.X176_splice | Splice_Site | SNP | 0.605 | 2 | - | - |
SMOX | p.P88S p.M436I | Missense Missense | SNP SNP | 0.577 0.526 | 2 | - | - |
SMPD1 | - | - | - | - | 1 | Loss | - |
SMPDL3B | p.G312K | Missense | MNP | 0.341 | 2 | - | - |
SMTNL2 | p.G209E | Missense | SNP | 0.565 | 2 | - | - |
SMURF2 | - | - | - | - | 3 | Gain | - |
SMYD1 | - | - | - | - | 1 | Loss | - |
SMYD4 | p.F751Y | Missense | SNP | 0.581 | 2 | - | - |
SMYD5 | - | - | - | - | 1 | Loss | - |
SNAP23 | - | - | - | - | 1 | Loss | - |
SNAPC5 | - | - | - | - | 3 | Gain | - |
SNCA | - | - | - | - | 1 | Loss | - |
SNCAIP | p.E600K | Missense | SNP | 0.643 | 1 | Loss | - |
SNCB | - | - | - | - | 3 | Gain | - |
SNED1 | - | - | - | - | 1 | Loss | - |
SNORC | - | - | - | - | 1 | Loss | - |
SNRK | - | - | - | - | 1 | Loss | - |
SNRNP200 | - | - | - | - | 3 | Gain | - |
SNRNP27 | - | - | - | - | 1 | Loss | - |
SNRNP70 | - | - | - | - | 3 | Gain | - |
SNRPA1 | - | - | - | - | 3 | Gain | - |
SNRPG | - | - | - | - | 1 | Loss | - |
SNRPN | p.G107S | Missense | SNP | 0.438 | 2 | - | - |
SNTG2 | - | - | - | - | 1 | Loss | - |
SNTN | - | - | - | - | 1 | Loss | - |
SNUPN | - | - | - | - | 3 | Gain | - |
SNX1 | - | - | - | - | 3 | Gain | - |
SNX10 | - | - | - | - | 1 | Loss | - |
SNX13 | p.S111F | Missense | SNP | 0.278 | 1 | Loss | - |
SNX17 | - | - | - | - | 1 | Loss | - |
SNX18 | - | - | - | - | 1 | Loss | - |
SNX2 | - | - | - | - | 1 | Loss | - |
SNX20 | - | - | - | - | 1 | Loss | - |
SNX22 | - | - | - | - | 3 | Gain | - |
SNX24 | - | - | - | - | 1 | Loss | - |
SNX33 | p.S146F | Missense | SNP | 0.487 | 3 | Gain | - |
SNX7 | - | - | - | - | 3 | Gain | - |
SNX8 | - | - | - | - | 1 | Loss | - |
SOAT1 | p.S369F | Missense | SNP | 0.580 | 2 | - | - |
SOCS3 | p.S183C | Missense | SNP | 0.176 | 3 | Gain | - |
SOCS5 | - | - | - | - | 1 | Loss | - |
SOCS6 | - | - | - | - | 1 | Loss | - |
SOD1 | - | - | - | - | 1 | Loss | - |
SOGA3 | p.K548R | Missense | SNP | 0.309 | 2 | - | - |
SOHLH2 | - | - | - | - | 1 | Loss | - |
SON | - | - | - | - | 1 | Loss | - |
SORBS2 | p.S874F p.R531C | Missense Missense | SNP SNP | 0.571 0.599 | 2 | - | - |
SORBS3 | - | - | - | - | 1 | Loss | - |
SORCS3 | p.R418* | Nonsense | SNP | 0.705 | 2 | - | - |
SORD | - | - | - | - | 1 | Loss | - |
SORT1 | - | - | - | - | 3 | Gain | - |
SOS1 | - | - | - | - | 1 | Loss | - |
SOSTDC1 | - | - | - | - | 1 | Loss | - |
SOWAHA | - | - | - | - | 1 | Loss | - |
SOWAHB | p.P438S | Missense | SNP | 0.497 | 2 | - | - |
SOWAHC | - | - | - | - | 3 | Gain | - |
SOX1 | - | - | - | - | 1 | Loss | - |
SOX11 | - | - | - | - | 1 | Loss | - |
SOX17 | p.S225F | Missense | SNP | 0.508 | 2 | - | - |
SOX18 | - | - | - | - | 3 | Gain | - |
SOX21 | - | - | - | - | 1 | Loss | - |
SOX30 | - | - | - | - | 3 | Gain | - |
SOX5 | - | - | - | - | 1 | Loss | - |
SOX6 | - | - | - | - | 1 | Loss | - |
SOX7 | - | - | - | - | 1 | Loss | - |
SOX9 | - | - | - | - | 3 | Gain | - |
SP1 | p.G569E | Missense | SNP | 0.394 | 2 | - | - |
SP100 | - | - | - | - | 1 | Loss | - |
SP110 | - | - | - | - | 1 | Loss | - |
SP140 | - | - | - | - | 1 | Loss | - |
SP140L | - | - | - | - | 1 | Loss | - |
SP3 | - | - | - | - | 1 | Loss | - |
SP4 | - | - | - | - | 1 | Loss | - |
SP5 | - | - | - | - | 1 | Loss | - |
SP8 | - | - | - | - | 1 | Loss | - |
SP9 | - | - | - | - | 1 | Loss | - |
SPACA4 | - | - | - | - | 3 | Gain | - |
SPACA6 | - | - | - | - | 3 | Gain | - |
SPACA7 | - | - | - | - | 1 | Loss | - |
SPAG11A | - | - | - | - | 1 | Loss | - |
SPAG11B | - | - | - | - | 1 | Loss | - |
SPAG16 | - | - | - | - | 1 | Loss | - |
SPAG17 | - | - | - | - | 3 | Gain | - |
SPAG6 | p.P55S | Missense | SNP | 0.264 | 1 | Loss | - |
SPARC | - | - | - | - | 1 | Loss | - |
SPARCL1 | - | - | - | - | 1 | Loss | - |
SPART | - | - | - | - | 1 | Loss | - |
SPAST | - | - | - | - | 1 | Loss | - |
SPATA12 | - | - | - | - | 1 | Loss | - |
SPATA13 | p.C1044G | Missense | SNP | 0.538 | 2 | - | - |
SPATA2 | p.P374S | Missense | SNP | 0.429 | 2 | - | - |
SPATA24 | - | - | - | - | 1 | Loss | - |
SPATA3 | p.N90Y | Missense | SNP | 1.000 | 1 | Loss | - |
SPATA31A3 | - | - | - | - | 3 | Gain | - |
SPATA31A7 | - | - | - | - | 3 | Gain | - |
SPATA48 | - | - | - | - | 1 | Loss | - |
SPATA5 | - | - | - | - | 1 | Loss | - |
SPATA5L1 | - | - | - | - | 1 | Loss | - |
SPATA8 | - | - | - | - | 3 | Gain | - |
SPATA9 | - | - | - | - | 1 | Loss | - |
SPATC1 | p.P319S | Missense | SNP | 0.444 | 3 | Gain | - |
SPATC1L | - | - | - | - | 1 | Loss | - |
SPATS2L | - | - | - | - | 1 | Loss | - |
SPC25 | - | - | - | - | 1 | Loss | - |
SPCS1 | - | - | - | - | 1 | Loss | - |
SPDL1 | - | - | - | - | 3 | Gain | - |
SPDYA | - | - | - | - | 1 | Loss | - |
SPDYC | p.G45S p.G208S | Missense Missense | SNP SNP | 0.422 0.481 | 2 | - | - |
SPEF2 | p.P584L | Missense | SNP | 0.500 | 2 | - | - |
SPEG | - | - | - | - | 1 | Loss | - |
SPEN | p.P1063L | Missense | SNP | 0.723 | 2 | - | - |
SPERT | - | - | - | - | 1 | Loss | - |
SPESP1 | - | - | - | - | 3 | Gain | - |
SPG11 | - | - | - | - | 1 | Loss | - |
SPG21 | - | - | - | - | 3 | Gain | - |
SPHK1 | - | - | - | - | 1 | Loss | - |
SPHK2 | - | - | - | - | 3 | Gain | - |
SPHKAP | p.Q539* | Nonsense | SNP | 1.000 | 1 | Loss | - |
SPIB | - | - | - | - | 3 | Gain | - |
SPINK1 | - | - | - | - | 1 | Loss | - |
SPINK13 | p.E80G | Missense | SNP | 0.111 | 1 | Loss | - |
SPINK14 | - | - | - | - | 1 | Loss | - |
SPINK5 | p.P1091S | Missense | SNP | 0.219 | 1 | Loss | - |
SPINK6 | - | - | - | - | 1 | Loss | - |
SPINK7 | - | - | - | - | 1 | Loss | - |
SPINK8 | - | - | - | - | 1 | Loss | - |
SPINK9 | - | - | - | - | 1 | Loss | - |
SPINT1 | - | - | - | - | 1 | Loss | - |
SPIRE1 | - | - | - | - | 1 | Loss | - |
SPNS1 | p.S301F | Missense | SNP | 0.452 | 2 | - | - |
SPOCD1 | p.E726K | Missense | SNP | 0.442 | 2 | - | - |
SPOCK1 | - | - | - | - | 1 | Loss | - |
SPON1 | - | - | - | - | 1 | Loss | - |
SPOPL | - | - | - | - | 1 | Loss | - |
SPP1 | - | - | - | - | 1 | Loss | - |
SPP2 | - | - | - | - | 1 | Loss | - |
SPPL2A | - | - | - | - | 1 | Loss | - |
SPR | - | - | - | - | 1 | Loss | - |
SPRED1 | - | - | - | - | 1 | Loss | - |
SPRED2 | - | - | - | - | 1 | Loss | - |
SPRN | - | - | - | - | 3 | Gain | - |
SPRY1 | - | - | - | - | 1 | Loss | - |
SPRY2 | - | - | - | - | 1 | Loss | - |
SPRY4 | - | - | - | - | 1 | Loss | - |
SPRYD7 | - | - | - | - | 1 | Loss | - |
SPTA1 | p.S333F | Missense | SNP | 0.380 | 2 | - | - |
SPTB | p.S1477C | Missense | SNP | 0.400 | 2 | - | - |
SPTBN1 | - | - | - | - | 1 | Loss | - |
SPTBN4 | p.H150Y | Missense | SNP | 0.437 | 2 | - | - |
SPTBN5 | - | - | - | - | 1 | Loss | - |
SPTY2D1 | - | - | - | - | 1 | Loss | - |
SPX | - | - | - | - | 1 | Loss | - |
SPZ1 | - | - | - | - | 1 | Loss | - |
SQOR | - | - | - | - | 1 | Loss | - |
SQRDL | p.P423L | Missense | SNP | 1.000 | ND | ND | - |
SQSTM1 | - | - | - | - | 3 | Gain | - |
SRA1 | - | - | - | - | 1 | Loss | - |
SRBD1 | - | - | - | - | 1 | Loss | - |
SRD5A2 | - | - | - | - | 1 | Loss | - |
SREK1 | - | - | - | - | 1 | Loss | - |
SREK1IP1 | - | - | - | - | 1 | Loss | - |
SRFBP1 | - | - | - | - | 1 | Loss | - |
SRGAP2 | p.P988L | Missense | SNP | 0.645 | 2 | - | - |
SRGAP2C | - | - | - | - | 3 | Gain | - |
SRGAP3 | - | - | - | - | 1 | Loss | - |
SRL | - | - | - | - | 1 | Loss | - |
SRMS | - | - | - | - | 3 | Gain | - |
SRP14 | - | - | - | - | 1 | Loss | - |
SRP19 | - | - | - | - | 1 | Loss | - |
SRP68 | - | - | - | - | 3 | Gain | UBE2O--SRP68 |
SRRM2 | p.P1733S | Missense | SNP | 0.418 | 2 | - | - |
SRSF2 | - | - | - | - | 3 | Gain | - |
SRSF7 | - | - | - | - | 1 | Loss | - |
SS18L2 | - | - | - | - | 1 | Loss | - |
SSB | - | - | - | - | 1 | Loss | - |
SSBP2 | - | - | - | - | 1 | Loss | - |
SSC5D | p.P134L | Missense | SNP | 0.400 | 3 | Gain | - |
SSMEM1 | p.E230K | Missense | SNP | 0.320 | 2 | - | - |
SSTR2 | - | - | - | - | 3 | Gain | - |
SSTR3 | p.G314D | Missense | SNP | 0.636 | 2 | - | - |
SSU72P2 | - | - | - | - | 1 | Loss | - |
SSUH2 | - | - | - | - | 1 | Loss | - |
ST18 | p.E280K | Missense | SNP | 0.461 | 2 | - | - |
ST20 | - | - | - | - | 3 | Gain | - |
ST20-MTHFS | - | - | - | - | 3 | Gain | - |
ST3GAL1 | - | - | - | - | 3 | Gain | - |
ST3GAL5 | - | - | - | - | 1 | Loss | - |
ST5 | - | - | - | - | 1 | Loss | - |
ST6GAL2 | - | - | - | - | 3 | Gain | - |
ST6GALNAC1 | - | - | - | - | 3 | Gain | - |
ST6GALNAC2 | - | - | - | - | 3 | Gain | - |
ST6GALNAC5 | p.N228I | Missense | SNP | 0.630 | 2 | - | - |
ST7 | p.H280Y | Missense | SNP | 0.587 | 2 | - | - |
ST7L | - | - | - | - | 3 | Gain | - |
ST8SIA1 | - | - | - | - | 1 | Loss | - |
ST8SIA2 | - | - | - | - | 3 | Gain | - |
ST8SIA3 | - | - | - | - | 1 | Loss | - |
ST8SIA4 | - | - | - | - | 1 | Loss | - |
ST8SIA5 | - | - | - | - | 1 | Loss | - |
ST8SIA6 | - | - | - | - | 1 | Loss | - |
STAB1 | p.L1057P | Missense | SNP | 1.000 | 1 | Loss | - |
STAB2 | p.G1256R | Missense | SNP | 0.438 | 2 | - | - |
STAC | - | - | - | - | 1 | Loss | - |
STAG3 | p.P431L | Missense | SNP | 0.303 | 2 | - | - |
STAM | - | - | - | - | 1 | Loss | - |
STAM2 | p.P103S | Missense | SNP | 1.000 | 1 | Loss | - |
STAMBP | - | - | - | - | 1 | Loss | - |
STARD13 | - | - | - | - | 1 | Loss | - |
STARD3NL | - | - | - | - | 1 | Loss | - |
STARD4 | - | - | - | - | 1 | Loss | - |
STARD5 | - | - | - | - | 3 | Gain | - |
STARD6 | - | - | - | - | 1 | Loss | - |
STARD7 | - | - | - | - | 3 | Gain | - |
STARD9 | - | - | - | - | 1 | Loss | - |
STAT1 | p.P553L | Missense | SNP | 1.000 | 1 | Loss | - |
STAT3 | - | - | - | - | 1 | Loss | - |
STAT4 | - | - | - | - | 1 | Loss | - |
STAT5A | - | - | - | - | 1 | Loss | - |
STC1 | - | - | - | - | 1 | Loss | - |
STC2 | - | - | - | - | 3 | Gain | - |
STEAP1B | - | - | - | - | 1 | Loss | - |
STEAP3 | - | - | - | - | 3 | Gain | - |
STIM1 | - | - | - | - | 1 | Loss | - |
STIMATE | - | - | - | - | 1 | Loss | - |
STK10 | - | - | - | - | 3 | Gain | - |
STK11IP | - | - | - | - | 1 | Loss | - |
STK16 | - | - | - | - | 1 | Loss | - |
STK17A | - | - | - | - | 1 | Loss | - |
STK17B | - | - | - | - | 1 | Loss | - |
STK19 | p.V81E | Missense | SNP | 0.252 | 2 | - | - |
STK24 | - | - | - | - | 1 | Loss | - |
STK25 | - | - | - | - | 1 | Loss | - |
STK31 | - | - | - | - | 1 | Loss | - |
STK32A | - | - | - | - | 1 | Loss | - |
STK32B | p.X369_splice | Splice_Site | SNP | 0.711 | 2 | - | - |
STK32C | - | - | - | - | 3 | Gain | - |
STK33 | - | - | - | - | 1 | Loss | - |
STK36 | - | - | - | - | 1 | Loss | - |
STK39 | - | - | - | - | 1 | Loss | - |
STKLD1 | p.E60K | Missense | SNP | 1.000 | 2 | - | - |
STMN3 | - | - | - | - | 3 | Gain | - |
STMN4 | - | - | - | - | 1 | Loss | - |
STOML1 | - | - | - | - | 3 | Gain | - |
STOML3 | - | - | - | - | 1 | Loss | - |
STON1 | p.P73L | Missense | SNP | 0.697 | ND | ND | - |
STON1-GTF2A1L | - | - | - | - | 1 | Loss | - |
STPG2 | - | - | - | - | 1 | Loss | - |
STPG4 | - | - | - | - | 1 | Loss | - |
STRA6 | p.P234S | Missense | SNP | 0.656 | 3 | Gain | - |
STRADA | - | - | - | - | 3 | Gain | - |
STRADB | - | - | - | - | 1 | Loss | - |
STRAP | - | - | - | - | 1 | Loss | - |
STRC | - | - | - | - | 1 | Loss | - |
STRIP1 | - | - | - | - | 3 | Gain | - |
STRN | - | - | - | - | 1 | Loss | - |
STT3B | - | - | - | - | 1 | Loss | - |
STX3 | p.X181_splice | Splice_Site | DEL | 0.300 | 2 | - | - |
STXBP3 | - | - | - | - | 3 | Gain | - |
SUCLA2 | - | - | - | - | 1 | Loss | - |
SUCLG1 | - | - | - | - | 1 | Loss | - |
SUCLG2 | - | - | - | - | 1 | Loss | - |
SUGCT | - | - | - | - | 1 | Loss | - |
SUGP2 | p.G1049R | Missense | SNP | 0.345 | 2 | - | - |
SUGT1 | - | - | - | - | 1 | Loss | - |
SULF1 | p.R38Q | Missense | SNP | 0.431 | 2 | - | - |
SULT1A1 | p.P38L | Missense | SNP | 0.270 | 2 | - | - |
SULT1C2 | - | - | - | - | 3 | Gain | - |
SULT1C3 | - | - | - | - | 3 | Gain | - |
SULT1C4 | - | - | - | - | 3 | Gain | - |
SULT2B1 | p.W309* | Nonsense | SNP | 0.728 | 3 | Gain | - |
SULT6B1 | - | - | - | - | 1 | Loss | - |
SUMF1 | - | - | - | - | 1 | Loss | - |
SUMF2 | - | - | - | - | 20 | Amp | - |
SUMO1 | - | - | - | - | 1 | Loss | - |
SUMO2 | - | - | - | - | 3 | Gain | - |
SUMO3 | - | - | - | - | 1 | Loss | - |
SUN1 | - | - | - | - | 1 | Loss | - |
SUN3 | - | - | - | - | 1 | Loss | - |
SUPT20H | - | - | - | - | 1 | Loss | - |
SUPT7L | - | - | - | - | 1 | Loss | - |
SUSD5 | - | - | - | - | 1 | Loss | - |
SUV39H2 | - | - | - | - | 1 | Loss | - |
SV2B | - | - | - | - | 3 | Gain | - |
SV2C | - | - | - | - | 1 | Loss | - |
SVEP1 | p.C3267R p.K2928* | Missense Nonsense | SNP SNP | 1.000 0.985 | 2 | - | - |
SVIL | - | - | - | - | 1 | Loss | - |
SVIP | - | - | - | - | 1 | Loss | - |
SWAP70 | - | - | - | - | 1 | Loss | - |
SWT1 | - | - | - | - | 3 | Gain | - |
SYBU | p.G168E | Missense | SNP | 0.630 | 2 | - | - |
SYCE1 | - | - | - | - | 3 | Gain | - |
SYCP1 | p.T286P | Missense | SNP | 0.629 | 3 | Gain | - |
SYN2 | - | - | - | - | 1 | Loss | - |
SYNE1 | p.R4792K p.S4403L p.Q3898* | Missense Missense Nonsense | SNP SNP SNP | 0.569 0.443 0.653 | 2 | - | - |
SYNE2 | p.K2369M p.S5655F | Missense Missense | SNP SNP | 0.526 0.546 | 2 | - | - |
SYNGR2 | - | - | - | - | 3 | Gain | - |
SYNGR4 | - | - | - | - | 3 | Gain | - |
SYNJ1 | p.P1149L p.K3N | Missense Missense | SNP SNP | 0.390 0.577 | 1 | Loss | - |
SYNM | p.G303D | Missense | SNP | 0.446 | 3 | Gain | - |
SYNPO | p.P526L | Missense | SNP | 0.707 | 1 | Loss | - |
SYNPO2 | - | - | - | - | 1 | Loss | - |
SYNPR | - | - | - | - | 1 | Loss | - |
SYPL2 | - | - | - | - | 3 | Gain | - |
SYT10 | p.R417K | Missense | SNP | 0.424 | 2 | - | - |
SYT14 | p.K362* | Nonsense | SNP | 0.302 | 2 | - | - |
SYT3 | - | - | - | - | 3 | Gain | - |
SYT4 | p.N330S | Missense | SNP | 0.565 | 1 | Loss | - |
SYT5 | - | - | - | - | 3 | Gain | - |
SYT6 | - | - | - | - | 3 | Gain | - |
SYT8 | - | - | - | - | 1 | Loss | - |
SYT9 | - | - | - | - | 1 | Loss | - |
SYTL1 | - | - | - | - | 1 | Loss | - |
SYTL2 | - | - | - | - | 1 | Loss | - |
SZT2 | p.P1976S | Missense | SNP | 0.329 | 2 | - | - |
TACO1 | - | - | - | - | 3 | Gain | - |
TACR1 | - | - | - | - | 1 | Loss | - |
TACR3 | - | - | - | - | 1 | Loss | - |
TADA3 | - | - | - | - | 1 | Loss | - |
TAF10 | - | - | - | - | 1 | Loss | - |
TAF13 | - | - | - | - | 3 | Gain | - |
TAF1B | - | - | - | - | 1 | Loss | - |
TAF3 | - | - | - | - | 1 | Loss | - |
TAF5L | p.S545N | Missense | SNP | 0.552 | 2 | - | - |
TAF7 | - | - | - | - | 1 | Loss | - |
TAF9 | - | - | - | - | 1 | Loss | - |
TALDO1 | - | - | - | - | 1 | Loss | - |
TAMM41 | - | - | - | - | 1 | Loss | - |
TANC1 | - | - | - | - | 1 | Loss | - |
TANC2 | - | - | - | - | 3 | Gain | - |
TANK | - | - | - | - | 1 | Loss | - |
TAPBP | p.F417Sfs*63 | Frame_Shift_Del | DEL | 0.674 | 2 | - | - |
TARM1 | - | - | - | - | 3 | Gain | - |
TARSL2 | - | - | - | - | 3 | Gain | - |
TATDN2 | - | - | - | - | 1 | Loss | - |
TAX1BP1 | - | - | - | - | 1 | Loss | - |
TBC1D1 | - | - | - | - | 1 | Loss | - |
TBC1D10C | p.E27K | Missense | SNP | 0.455 | 2 | - | - |
TBC1D16 | - | - | - | - | 3 | Gain | - |
TBC1D17 | - | - | - | - | 3 | Gain | - |
TBC1D21 | - | - | - | - | 3 | Gain | - |
TBC1D23 | p.E78* | Nonsense | SNP | 0.392 | 2 | - | - |
TBC1D2B | - | - | - | - | 3 | Gain | - |
TBC1D4 | - | - | - | - | 1 | Loss | - |
TBC1D5 | - | - | - | - | 1 | Loss | - |
TBC1D8 | - | - | - | - | 3 | Gain | - |
TBC1D9B | - | - | - | - | 3 | Gain | - |
TBCA | - | - | - | - | 1 | Loss | - |
TBCD | - | - | - | - | 3 | Gain | - |
TBCK | - | - | - | - | 1 | Loss | - |
TBR1 | - | - | - | - | 1 | Loss | - |
TBRG4 | - | - | - | - | 1 | Loss | - |
TBX15 | - | - | - | - | 3 | Gain | - |
TBX18 | p.P288S | Missense | SNP | 0.427 | 2 | - | - |
TBX2 | - | - | - | - | 3 | Gain | - |
TBX20 | - | - | - | - | 1 | Loss | - |
TBX3 | p.G552S p.S79F | Missense Missense | SNP SNP | 0.439 0.484 | 2 | - | - |
TBX4 | - | - | - | - | 3 | Gain | - |
TCAIM | - | - | - | - | 1 | Loss | - |
TCEA2 | - | - | - | - | 3 | Gain | - |
TCEB3 | p.E305* | Nonsense | SNP | 0.635 | ND | ND | - |
TCERG1 | - | - | - | - | 1 | Loss | - |
TCERG1L | - | - | - | - | 3 | Gain | - |
TCF12 | - | - | - | - | 3 | Gain | - |
TCF23 | - | - | - | - | 1 | Loss | - |
TCF4 | - | - | - | - | 1 | Loss | - |
TCF7 | - | - | - | - | 1 | Loss | - |
TCF7L1 | - | - | - | - | 1 | Loss | - |
TCHH | - | - | - | - | 3 | Gain | - |
TCHHL1 | - | - | - | - | 3 | Gain | - |
TCOF1 | - | - | - | - | 1 | Loss | - |
TCP10L | - | - | - | - | 1 | Loss | - |
TCP11L1 | - | - | - | - | 1 | Loss | - |
TCTA | - | - | - | - | 1 | Loss | - |
TDGF1 | - | - | - | - | 1 | Loss | - |
TDRD15 | - | - | - | - | 1 | Loss | - |
TDRD3 | - | - | - | - | 1 | Loss | - |
TDRP | - | - | - | - | 1 | Loss | - |
TEAD1 | - | - | - | - | 1 | Loss | - |
TEAD2 | - | - | - | - | 3 | Gain | - |
TEC | - | - | - | - | 1 | Loss | - |
TECPR1 | p.P478S | Missense | SNP | 0.321 | 2 | - | - |
TEKT4 | - | - | - | - | 3 | Gain | - |
TEN1 | - | - | - | - | 3 | Gain | - |
TEN1-CDK3 | - | - | - | - | 3 | Gain | - |
TENM2 | - | - | - | - | 3 | Gain | - |
TENT2 | - | - | - | - | 1 | Loss | - |
TENT4B | - | - | - | - | 1 | Loss | - |
TENT5B | - | - | - | - | 1 | Loss | - |
TENT5C | - | - | - | - | 3 | Gain | - |
TEPSIN | - | - | - | - | 3 | Gain | - |
TERB2 | - | - | - | - | 1 | Loss | - |
TERT | p.P250L | Missense | SNP | 0.491 | 2 | - | - |
TET2 | - | - | - | - | 1 | Loss | - |
TET3 | - | - | - | - | 1 | Loss | - |
TEX15 | - | - | - | - | 1 | Loss | - |
TEX19 | - | - | - | - | 3 | Gain | - |
TEX2 | - | - | - | - | 3 | Gain | - |
TEX26 | - | - | - | - | 1 | Loss | - |
TEX261 | - | - | - | - | 1 | Loss | - |
TEX264 | - | - | - | - | 1 | Loss | - |
TEX29 | - | - | - | - | 1 | Loss | - |
TEX30 | - | - | - | - | 1 | Loss | - |
TEX37 | - | - | - | - | 1 | Loss | - |
TEX43 | - | - | - | - | 1 | Loss | - |
TEX44 | - | - | - | - | 1 | Loss | - |
TEX51 | - | - | - | - | 3 | Gain | - |
TEX9 | - | - | - | - | 3 | Gain | - |
TFAP2A | p.S264C | Missense | SNP | 0.771 | 2 | - | - |
TFCP2L1 | - | - | - | - | 3 | Gain | - |
TFDP1 | - | - | - | - | 1 | Loss | - |
TFF1 | - | - | - | - | 1 | Loss | - |
TFF2 | - | - | - | - | 1 | Loss | - |
TFF3 | - | - | - | - | 1 | Loss | - |
TFPI | - | - | - | - | 1 | Loss | - |
TFPT | - | - | - | - | 3 | Gain | - |
TG | - | - | - | - | 3 | Gain | - |
TGDS | - | - | - | - | 1 | Loss | - |
TGFA | - | - | - | - | 1 | Loss | - |
TGFB2 | p.E38K | Missense | SNP | 0.372 | 2 | - | - |
TGFB3 | p.I105N p.E104K | Missense Missense | SNP SNP | 0.447 0.458 | 2 | - | - |
TGFBI | - | - | - | - | 1 | Loss | - |
TGFBR2 | - | - | - | - | 1 | Loss | - |
TGFBR3 | - | - | - | - | 3 | Gain | - |
TGFBRAP1 | - | - | - | - | 3 | Gain | - |
TGIF1 | - | - | - | - | 1 | Loss | - |
TGM1 | p.P16L | Missense | SNP | 0.367 | 2 | - | - |
TGM4 | - | - | - | - | 1 | Loss | - |
TGM5 | - | - | - | - | 1 | Loss | - |
TGM7 | - | - | - | - | 1 | Loss | - |
TGOLN2 | - | - | - | - | 3 | Gain | - |
TH | - | - | - | - | 1 | Loss | - |
THADA | - | - | - | - | 1 | Loss | - |
THAP10 | - | - | - | - | 3 | Gain | - |
THAP4 | p.S205F | Missense | SNP | 1.000 | 1 | Loss | - |
THAP9 | - | - | - | - | 1 | Loss | - |
THBS1 | - | - | - | - | 1 | Loss | - |
THBS4 | - | - | - | - | 1 | Loss | - |
THEM6 | - | - | - | - | 3 | Gain | - |
THG1L | - | - | - | - | 3 | Gain | - |
THNSL1 | - | - | - | - | 1 | Loss | - |
THNSL2 | - | - | - | - | 1 | Loss | - |
THOC1 | - | - | - | - | 1 | Loss | - |
THOC3 | - | - | - | - | 3 | Gain | - |
THOC7 | - | - | - | - | 1 | Loss | - |
THRB | - | - | - | - | 1 | Loss | - |
THSD1 | p.P706S | Missense | SNP | 0.507 | 1 | Loss | - |
THSD4 | - | - | - | - | 3 | Gain | - |
THSD7A | p.M1308I | Missense | SNP | 0.256 | 1 | Loss | - |
THSD7B | - | - | - | - | 1 | Loss | - |
THUMPD2 | - | - | - | - | 1 | Loss | - |
THUMPD3 | - | - | - | - | 1 | Loss | - |
TIA1 | - | - | - | - | 1 | Loss | - |
TIAM1 | - | - | - | - | 1 | Loss | - |
TICRR | p.P1406F | Missense | MNP | 0.445 | 3 | Gain | - |
TIE1 | p.A753P p.E842K | Missense Missense | SNP SNP | 0.326 0.400 | 2 | - | - |
TIFA | - | - | - | - | 1 | Loss | - |
TIFAB | - | - | - | - | 1 | Loss | - |
TIGD2 | - | - | - | - | 1 | Loss | - |
TIGD5 | - | - | - | - | 3 | Gain | - |
TIGD6 | - | - | - | - | 1 | Loss | - |
TIMD4 | - | - | - | - | 1 | Loss | - |
TIMM10B | - | - | - | - | 1 | Loss | - |
TIMM21 | - | - | - | - | 1 | Loss | - |
TIMP2 | - | - | - | - | 3 | Gain | - |
TIMP4 | - | - | - | - | 1 | Loss | - |
TIPIN | - | - | - | - | 3 | Gain | - |
TK1 | - | - | - | - | 3 | Gain | - |
TKT | - | - | - | - | 1 | Loss | - |
TLE3 | - | - | - | - | 3 | Gain | - |
TLK1 | - | - | - | - | 1 | Loss | - |
TLK2 | - | - | - | - | 3 | Gain | - |
TLN1 | p.L2439F | Missense | SNP | 1.000 | 2 | - | - |
TLN2 | p.S208W | Missense | SNP | 0.314 | 3 | Gain | - |
TLNRD1 | - | - | - | - | 3 | Gain | - |
TLR1 | p.F355Y | Missense | SNP | 0.733 | 1 | Loss | - |
TLR10 | - | - | - | - | 1 | Loss | - |
TLR5 | p.P67L | Missense | SNP | 0.294 | 2 | - | - |
TLR6 | p.S484F | Missense | SNP | 0.675 | 1 | Loss | - |
TLR7 | p.P278L | Missense | SNP | 1.000 | ND | ND | - |
TLR9 | - | - | - | - | 1 | Loss | - |
TLX2 | - | - | - | - | 1 | Loss | - |
TLX3 | - | - | - | - | 3 | Gain | - |
TM2D3 | - | - | - | - | 3 | Gain | - |
TM4SF20 | - | - | - | - | 1 | Loss | - |
TM6SF1 | - | - | - | - | 3 | Gain | - |
TM9SF2 | - | - | - | - | 1 | Loss | - |
TMA7 | - | - | - | - | 1 | Loss | - |
TMBIM1 | - | - | - | - | 1 | Loss | - |
TMC3 | - | - | - | - | 3 | Gain | - |
TMC4 | - | - | - | - | 3 | Gain | - |
TMC5 | p.S347L | Missense | SNP | 0.385 | 2 | - | - |
TMC6 | - | - | - | - | 3 | Gain | - |
TMC8 | - | - | - | - | 3 | Gain | - |
TMCO3 | - | - | - | - | 1 | Loss | - |
TMCO5A | - | - | - | - | 1 | Loss | - |
TMCO6 | - | - | - | - | 1 | Loss | - |
TMED3 | - | - | - | - | 3 | Gain | - |
TMED4 | - | - | - | - | 1 | Loss | - |
TMED5 | - | - | - | - | 3 | Gain | - |
TMED7 | - | - | - | - | 1 | Loss | - |
TMED7-TICAM2 | - | - | - | - | 1 | Loss | - |
TMED9 | - | - | - | - | 3 | Gain | - |
TMEFF2 | - | - | - | - | 1 | Loss | - |
TMEM104 | - | - | - | - | 3 | Gain | - |
TMEM105 | - | - | - | - | 3 | Gain | - |
TMEM106B | - | - | - | - | 1 | Loss | - |
TMEM110-MUSTN1 | - | - | - | - | 1 | Loss | - |
TMEM115 | - | - | - | - | 1 | Loss | - |
TMEM126A | - | - | - | - | 1 | Loss | - |
TMEM126B | - | - | - | - | 1 | Loss | - |
TMEM127 | - | - | - | - | 3 | Gain | - |
TMEM131 | - | - | - | - | 3 | Gain | - |
TMEM132D | p.G118R | Missense | SNP | 0.483 | 2 | - | - |
TMEM143 | - | - | - | - | 3 | Gain | - |
TMEM150A | - | - | - | - | 1 | Loss | - |
TMEM150B | p.A98V | Missense | SNP | 0.279 | 3 | Gain | - |
TMEM150C | - | - | - | - | 1 | Loss | - |
TMEM155 | - | - | - | - | 1 | Loss | - |
TMEM156 | - | - | - | - | 1 | Loss | - |
TMEM158 | - | - | - | - | 1 | Loss | - |
TMEM161B | - | - | - | - | 1 | Loss | - |
TMEM163 | - | - | - | - | 1 | Loss | - |
TMEM167A | - | - | - | - | 1 | Loss | - |
TMEM167B | - | - | - | - | 3 | Gain | - |
TMEM169 | - | - | - | - | 1 | Loss | - |
TMEM17 | - | - | - | - | 1 | Loss | - |
TMEM171 | - | - | - | - | 1 | Loss | - |
TMEM173 | - | - | - | - | 1 | Loss | - |
TMEM174 | - | - | - | - | 1 | Loss | - |
TMEM177 | - | - | - | - | 3 | Gain | - |
TMEM178A | - | - | - | - | 1 | Loss | - |
TMEM18 | - | - | - | - | 1 | Loss | - |
TMEM182 | - | - | - | - | 3 | Gain | - |
TMEM184A | - | - | - | - | 1 | Loss | - |
TMEM185B | - | - | - | - | 3 | Gain | - |
TMEM190 | - | - | - | - | 3 | Gain | - |
TMEM196 | - | - | - | - | 1 | Loss | - |
TMEM198 | - | - | - | - | 1 | Loss | - |
TMEM200C | - | - | - | - | 1 | Loss | - |
TMEM202 | - | - | - | - | 3 | Gain | - |
TMEM214 | - | - | - | - | 1 | Loss | - |
TMEM222 | - | - | - | - | 1 | Loss | - |
TMEM232 | - | - | - | - | 1 | Loss | - |
TMEM234 | p.L140Y | Missense | MNP | 0.367 | 2 | - | - |
TMEM235 | - | - | - | - | 3 | Gain | - |
TMEM236 | - | - | - | - | 1 | Loss | - |
TMEM237 | - | - | - | - | 1 | Loss | - |
TMEM238 | - | - | - | - | 3 | Gain | - |
TMEM247 | - | - | - | - | 1 | Loss | - |
TMEM249 | - | - | - | - | 3 | Gain | - |
TMEM255B | - | - | - | - | 1 | Loss | - |
TMEM266 | p.S27F | Missense | SNP | 0.489 | 3 | Gain | - |
TMEM267 | p.L24F | Missense | SNP | 0.512 | 2 | - | - |
TMEM272 | - | - | - | - | 1 | Loss | - |
TMEM33 | - | - | - | - | 1 | Loss | - |
TMEM37 | - | - | - | - | 3 | Gain | - |
TMEM40 | - | - | - | - | 1 | Loss | - |
TMEM41B | - | - | - | - | 1 | Loss | - |
TMEM42 | - | - | - | - | 1 | Loss | - |
TMEM43 | - | - | - | - | 1 | Loss | - |
TMEM50B | - | - | - | - | 1 | Loss | - |
TMEM56 | - | - | - | - | 3 | Gain | - |
TMEM56-RWDD3 | - | - | - | - | 3 | Gain | - |
TMEM60 | - | - | - | - | 1 | Loss | - |
TMEM62 | - | - | - | - | 1 | Loss | - |
TMEM71 | - | - | - | - | 3 | Gain | - |
TMEM80 | - | - | - | - | 1 | Loss | - |
TMEM86A | - | - | - | - | 1 | Loss | - |
TMEM86B | - | - | - | - | 3 | Gain | - |
TMEM87A | - | - | - | - | 1 | Loss | - |
TMEM87B | - | - | - | - | 3 | Gain | - |
TMEM89 | - | - | - | - | 1 | Loss | - |
TMEM94 | p.S196L | Missense | SNP | 0.188 | 3 | Gain | - |
TMEM9B | - | - | - | - | 1 | Loss | - |
TMF1 | - | - | - | - | 1 | Loss | - |
TMIE | - | - | - | - | 1 | Loss | - |
TMIGD3 | - | - | - | - | 3 | Gain | - |
TMOD2 | p.V300L | Missense | SNP | 1.000 | 1 | Loss | - |
TMOD3 | - | - | - | - | 1 | Loss | - |
TMPPE | - | - | - | - | 1 | Loss | - |
TMPRSS15 | p.X391_splice p.G34E | Splice_Site Missense | SNP SNP | 0.217 0.396 | 2 | - | - |
TMPRSS2 | - | - | - | - | 1 | Loss | - |
TMPRSS3 | - | - | - | - | 1 | Loss | - |
TMSB10 | - | - | - | - | 1 | Loss | - |
TMTC1 | p.Q716* | Nonsense | SNP | 0.421 | 2 | - | - |
TMTC3 | p.P768S | Missense | SNP | 0.492 | 2 | - | - |
TMTC4 | - | - | - | - | 1 | Loss | - |
TMX3 | - | - | - | - | 1 | Loss | - |
TNFAIP6 | - | - | - | - | 1 | Loss | - |
TNFAIP8 | - | - | - | - | 1 | Loss | - |
TNFAIP8L3 | - | - | - | - | 1 | Loss | - |
TNFRSF10A | - | - | - | - | 1 | Loss | - |
TNFRSF10B | - | - | - | - | 1 | Loss | - |
TNFRSF10C | - | - | - | - | 1 | Loss | - |
TNFRSF10D | - | - | - | - | 1 | Loss | - |
TNFRSF11A | - | - | - | - | 1 | Loss | - |
TNFRSF13B | p.G138K | Missense | MNP | 0.375 | 2 | - | - |
TNFRSF19 | p.S321F | Missense | SNP | 0.265 | 2 | - | - |
TNFRSF6B | - | - | - | - | 3 | Gain | - |
TNFRSF8 | p.S187F | Missense | SNP | 0.311 | 2 | - | - |
TNFSF11 | - | - | - | - | 1 | Loss | - |
TNFSF13B | - | - | - | - | 1 | Loss | - |
TNIP1 | - | - | - | - | 1 | Loss | - |
TNIP3 | - | - | - | - | 1 | Loss | - |
TNKS | - | - | - | - | 1 | Loss | - |
TNNC1 | - | - | - | - | 1 | Loss | - |
TNNI2 | - | - | - | - | 1 | Loss | - |
TNNI3 | - | - | - | - | 3 | Gain | - |
TNNT1 | - | - | - | - | 3 | Gain | - |
TNNT3 | - | - | - | - | 1 | Loss | - |
TNP1 | - | - | - | - | 1 | Loss | - |
TNPO1 | p.P593R | Missense | SNP | 0.739 | 1 | Loss | - |
TNR | p.S441F | Missense | SNP | 0.642 | 2 | - | - |
TNRC18 | - | - | - | - | 1 | Loss | - |
TNRC6A | p.S210F | Missense | SNP | 0.392 | 2 | - | - |
TNRC6C | - | - | - | - | 3 | Gain | - |
TNS1 | p.P1370S | Missense | SNP | 1.000 | 1 | Loss | - |
TNS3 | p.S155F | Missense | SNP | 0.366 | 1 | Loss | - |
TNS4 | p.L649F | Missense | SNP | 0.411 | 2 | - | - |
TNXB | p.E44K | Missense | SNP | 0.385 | 2 | - | - |
TOGARAM2 | - | - | - | - | 1 | Loss | - |
TOLLIP | - | - | - | - | 1 | Loss | - |
TOMM7 | - | - | - | - | 1 | Loss | - |
TONSL | - | - | - | - | 3 | Gain | - |
TOP1MT | p.E140K | Missense | SNP | 0.391 | 3 | Gain | - |
TOP2B | - | - | - | - | 1 | Loss | - |
TOPAZ1 | - | - | - | - | 1 | Loss | - |
TOR1AIP2 | p.P164S | Missense | SNP | 0.372 | 2 | - | - |
TOX | p.D274N | Missense | SNP | 0.558 | 2 | - | - |
TOX3 | - | - | - | - | 1 | Loss | - |
TP53 | p.R342* | Nonsense | SNP | 1.000 | 2 | - | - |
TP53BP1 | - | - | - | - | 1 | Loss | - |
TP53I3 | - | - | - | - | 1 | Loss | - |
TP63 | p.P542L | Missense | SNP | 0.321 | 2 | - | - |
TPD52L2 | - | - | - | - | 3 | Gain | - |
TPGS2 | - | - | - | - | 1 | Loss | - |
TPH1 | - | - | - | - | 1 | Loss | - |
TPM1 | - | - | - | - | 3 | Gain | - |
TPO | - | - | - | - | 1 | Loss | - |
TPP1 | p.P202L | Missense | SNP | 1.000 | 1 | Loss | - |
TPP2 | - | - | - | - | 1 | Loss | - |
TPR | - | - | - | - | 3 | Gain | - |
TPRKB | - | - | - | - | 1 | Loss | - |
TPRN | p.T404I | Missense | SNP | 1.000 | 2 | - | - |
TPT1 | - | - | - | - | 1 | Loss | - |
TPTE | - | - | - | - | 1 | Loss | - |
TRA2A | - | - | - | - | 1 | Loss | - |
TRABD2A | - | - | - | - | 1 | Loss | - |
TRAF3IP1 | - | - | - | - | 1 | Loss | - |
TRAIP | - | - | - | - | 1 | Loss | - |
TRAK1 | - | - | - | - | 1 | Loss | - |
TRAK2 | - | - | - | - | 1 | Loss | - |
TRAM1L1 | - | - | - | - | 1 | Loss | - |
TRANK1 | - | - | - | - | 1 | Loss | - |
TRAPPC10 | - | - | - | - | 1 | Loss | - |
TRAPPC12 | - | - | - | - | 1 | Loss | - |
TRAPPC13 | - | - | - | - | 1 | Loss | - |
TRAPPC2B | - | - | - | - | 3 | Gain | - |
TRAPPC8 | - | - | - | - | 1 | Loss | - |
TRAPPC9 | - | - | - | - | 3 | Gain | - |
TRAV30 | p.N86I | Missense | SNP | 0.523 | ND | ND | - |
TRAV4 | p.V72A | Missense | SNP | 0.593 | ND | ND | - |
TRDMT1 | - | - | - | - | 1 | Loss | - |
TRDN | p.G723E | Missense | SNP | 0.581 | 2 | - | - |
TREX1 | - | - | - | - | 1 | Loss | - |
TRHDE | p.R362K | Missense | SNP | 0.344 | 2 | - | - |
TRIB2 | - | - | - | - | 1 | Loss | - |
TRIL | - | - | - | - | 1 | Loss | - |
TRIM13 | - | - | - | - | 1 | Loss | - |
TRIM21 | - | - | - | - | 1 | Loss | - |
TRIM22 | - | - | - | - | 1 | Loss | - |
TRIM23 | - | - | - | - | 1 | Loss | - |
TRIM28 | - | - | - | - | 3 | Gain | - |
TRIM3 | - | - | - | - | 1 | Loss | - |
TRIM33 | - | - | - | - | 3 | Gain | - |
TRIM35 | - | - | - | - | 1 | Loss | - |
TRIM36 | - | - | - | - | 1 | Loss | - |
TRIM39-RPP21 | p.P491S | Missense | SNP | 0.635 | 2 | - | - |
TRIM40 | p.X115_splice | Splice_Site | SNP | 0.368 | 2 | - | - |
TRIM41 | - | - | - | - | 3 | Gain | - |
TRIM43 | - | - | - | - | 3 | Gain | - |
TRIM43B | - | - | - | - | 3 | Gain | - |
TRIM45 | - | - | - | - | 3 | Gain | - |
TRIM47 | - | - | - | - | 3 | Gain | - |
TRIM5 | - | - | - | - | 1 | Loss | - |
TRIM52 | - | - | - | - | 3 | Gain | - |
TRIM54 | - | - | - | - | 1 | Loss | - |
TRIM6 | - | - | - | - | 1 | Loss | - |
TRIM6-TRIM34 | - | - | - | - | 1 | Loss | - |
TRIM65 | - | - | - | - | 3 | Gain | - |
TRIM66 | - | - | - | - | 1 | Loss | - |
TRIM68 | - | - | - | - | 1 | Loss | - |
TRIM69 | - | - | - | - | 1 | Loss | - |
TRIM7 | - | - | - | - | 3 | Gain | - |
TRIM71 | - | - | - | - | 1 | Loss | - |
TRIM77 | p.R33K | Missense | SNP | 0.357 | 2 | - | - |
TRIM9 | p.F487L | Missense | SNP | 0.510 | 2 | - | - |
TRIML2 | p.F400L | Missense | SNP | 0.369 | 2 | - | - |
TRIOBP | p.A332T | Missense | SNP | 0.562 | 2 | - | - |
TRIP12 | - | - | - | - | 1 | Loss | - |
TRIP4 | - | - | - | - | 3 | Gain | - |
TRMT10A | - | - | - | - | 1 | Loss | - |
TRMT13 | - | - | - | - | 3 | Gain | - |
TRMT1L | - | - | - | - | 3 | Gain | - |
TRMT6 | p.S386F | Missense | SNP | 0.479 | 2 | - | - |
TRMT61B | - | - | - | - | 1 | Loss | - |
TRMT9B | - | - | - | - | 1 | Loss | - |
TRMU | - | - | - | - | 1 | Loss | - |
TRNP1 | - | - | - | - | 1 | Loss | - |
TRNT1 | - | - | - | - | 1 | Loss | - |
TROVE2 | - | - | - | - | 3 | Gain | - |
TRPC3 | - | - | - | - | 1 | Loss | - |
TRPC4 | - | - | - | - | 1 | Loss | - |
TRPC4AP | p.P281L | Missense | SNP | 0.400 | 2 | - | - |
TRPC5 | p.L52F | Missense | SNP | 1.000 | ND | ND | - |
TRPC5OS | p.S72* | Nonsense | SNP | 1.000 | ND | ND | - |
TRPC7 | - | - | - | - | 1 | Loss | - |
TRPM1 | p.D1502N | Missense | SNP | 0.429 | 2 | - | - |
TRPM2 | - | - | - | - | 1 | Loss | - |
TRPM3 | p.P123S | Missense | SNP | 1.000 | 2 | - | - |
TRPM4 | - | - | - | - | 3 | Gain | - |
TRPM5 | - | - | - | - | 1 | Loss | - |
TRPM7 | - | - | - | - | 1 | Loss | - |
TRPM8 | p.P958L | Missense | SNP | 1.000 | 1 | Loss | - |
TSC22D1 | - | - | - | - | 1 | Loss | - |
TSEN15 | - | - | - | - | 3 | Gain | - |
TSEN2 | - | - | - | - | 1 | Loss | - |
TSEN34 | - | - | - | - | 3 | Gain | - |
TSEN54 | - | - | - | - | 3 | Gain | - |
TSG101 | - | - | - | - | 1 | Loss | - |
TSGA10 | - | - | - | - | 3 | Gain | - |
TSGA10IP | p.R203K | Missense | SNP | 0.402 | 2 | - | - |
TSHB | - | - | - | - | 3 | Gain | - |
TSHZ1 | - | - | - | - | 1 | Loss | - |
TSHZ3 | p.F1001C | Missense | SNP | 0.540 | 2 | - | - |
TSKS | - | - | - | - | 3 | Gain | - |
TSKU | p.L138F | Missense | SNP | 0.472 | 2 | - | - |
TSLP | - | - | - | - | 1 | Loss | - |
TSN | p.S213F | Missense | SNP | 0.566 | 3 | Gain | - |
TSNARE1 | - | - | - | - | 3 | Gain | - |
TSPAN10 | - | - | - | - | 3 | Gain | - |
TSPAN13 | - | - | - | - | 1 | Loss | - |
TSPAN17 | - | - | - | - | 3 | Gain | - |
TSPAN2 | - | - | - | - | 3 | Gain | - |
TSPAN3 | - | - | - | - | 3 | Gain | - |
TSPAN32 | - | - | - | - | 1 | Loss | - |
TSPAN4 | - | - | - | - | 1 | Loss | - |
TSPAN5 | - | - | - | - | 1 | Loss | - |
TSPEAR | - | - | - | - | 1 | Loss | - |
TSPOAP1 | p.P854L | Missense | SNP | 0.441 | 2 | - | - |
TSPYL6 | - | - | - | - | 1 | Loss | - |
TSSC4 | - | - | - | - | 1 | Loss | - |
TSSK1B | - | - | - | - | 1 | Loss | - |
TSTA3 | - | - | - | - | 3 | Gain | - |
TTBK2 | - | - | - | - | 1 | Loss | - |
TTC1 | p.P34F | Missense | MNP | 0.714 | 3 | Gain | - |
TTC21A | - | - | - | - | 1 | Loss | - |
TTC21B | - | - | - | - | 1 | Loss | - |
TTC23 | - | - | - | - | 3 | Gain | - |
TTC25 | - | - | - | - | 1 | Loss | - |
TTC27 | - | - | - | - | 1 | Loss | - |
TTC3 | - | - | - | - | 1 | Loss | - |
TTC30A | - | - | - | - | 1 | Loss | - |
TTC30B | - | - | - | - | 1 | Loss | - |
TTC31 | - | - | - | - | 1 | Loss | - |
TTC32 | - | - | - | - | 1 | Loss | - |
TTC37 | - | - | - | - | 1 | Loss | - |
TTC38 | - | - | - | - | 1 | Loss | - |
TTC7A | - | - | - | - | 1 | Loss | - |
TTF2 | p.R876K | Missense | SNP | 0.336 | 3 | Gain | - |
TTI2 | - | - | - | - | 1 | Loss | - |
TTL | - | - | - | - | 3 | Gain | - |
TTLL13P | - | - | - | - | 3 | Gain | - |
TTLL3 | - | - | - | - | 1 | Loss | - |
TTLL4 | - | - | - | - | 1 | Loss | - |
TTLL8 | p.S444N | Missense | SNP | 0.586 | 2 | - | - |
TTN | p.R27543K | Missense | SNP | 1.000 | 1 | Loss | - |
TTR | - | - | - | - | 1 | Loss | - |
TTYH1 | - | - | - | - | 3 | Gain | - |
TTYH2 | - | - | - | - | 3 | Gain | - |
TTYH3 | - | - | - | - | 1 | Loss | - |
TUB | - | - | - | - | 1 | Loss | - |
TUBA4A | - | - | - | - | 1 | Loss | - |
TUBA4B | - | - | - | - | 1 | Loss | - |
TUBAL3 | - | - | - | - | 1 | Loss | - |
TUBB6 | - | - | - | - | 1 | Loss | - |
TUBB8 | - | - | - | - | 1 | Loss | - |
TUBD1 | - | - | - | - | 3 | Gain | - |
TUBGCP2 | - | - | - | - | 3 | Gain | - |
TUBGCP3 | - | - | - | - | 1 | Loss | - |
TUBGCP4 | - | - | - | - | 1 | Loss | - |
TUBGCP5 | p.G183* | Nonsense | SNP | 0.292 | 2 | - | - |
TULP2 | - | - | - | - | 3 | Gain | - |
TUSC2 | - | - | - | - | 1 | Loss | - |
TUSC3 | - | - | - | - | 1 | Loss | - |
TWF2 | - | - | - | - | 1 | Loss | - |
TWIST1 | - | - | - | - | 1 | Loss | - |
TWIST2 | - | - | - | - | 1 | Loss | - |
TWISTNB | - | - | - | - | 1 | Loss | - |
TWSG1 | - | - | - | - | 1 | Loss | - |
TXK | - | - | - | - | 1 | Loss | - |
TXNDC15 | - | - | - | - | 1 | Loss | - |
TXNDC2 | - | - | - | - | 1 | Loss | - |
TXNDC9 | - | - | - | - | 3 | Gain | - |
TXNL1 | - | - | - | - | 1 | Loss | - |
TXNL4A | - | - | - | - | 1 | Loss | - |
TYK2 | p.A349V | Missense | SNP | 0.477 | 2 | - | - |
TYMP | p.P37S | Missense | SNP | 0.519 | 2 | - | - |
TYMS | - | - | - | - | 1 | Loss | - |
TYR | p.P70S | Missense | SNP | 0.577 | 2 | - | - |
TYRO3 | - | - | - | - | 1 | Loss | - |
TYW5 | - | - | - | - | 1 | Loss | - |
U2AF1 | - | - | - | - | 1 | Loss | - |
U2AF1L5 | - | - | - | - | 1 | Loss | - |
U2AF2 | - | - | - | - | 3 | Gain | - |
UACA | - | - | - | - | 3 | Gain | - |
UBA3 | - | - | - | - | 1 | Loss | - |
UBA7 | - | - | - | - | 1 | Loss | - |
UBAC2 | - | - | - | - | 1 | Loss | - |
UBALD2 | - | - | - | - | 1 | Loss | - |
UBAP1L | - | - | - | - | 3 | Gain | - |
UBAP2L | p.S664F | Missense | SNP | 0.631 | 2 | - | - |
UBASH3A | p.P377S | Missense | SNP | 0.486 | 1 | Loss | - |
UBE2B | - | - | - | - | 1 | Loss | - |
UBE2D2 | - | - | - | - | 1 | Loss | - |
UBE2D3 | - | - | - | - | 1 | Loss | - |
UBE2D4 | - | - | - | - | 1 | Loss | - |
UBE2E1 | - | - | - | - | 1 | Loss | - |
UBE2E2 | - | - | - | - | 1 | Loss | - |
UBE2E3 | - | - | - | - | 1 | Loss | - |
UBE2F | - | - | - | - | 1 | Loss | - |
UBE2F-SCLY | - | - | - | - | 1 | Loss | - |
UBE2G2 | - | - | - | - | 1 | Loss | - |
UBE2I | p.P28S | Missense | SNP | 0.415 | 2 | - | - |
UBE2K | - | - | - | - | 1 | Loss | - |
UBE2M | - | - | - | - | 3 | Gain | - |
UBE2O | - | - | - | - | 1 | Loss | UBE2O--SRP68 |
UBE2Q2 | - | - | - | - | 3 | Gain | - |
UBE2Q2L | - | - | - | - | 3 | Gain | - |
UBE2S | - | - | - | - | 3 | Gain | - |
UBL3 | - | - | - | - | 1 | Loss | - |
UBL4B | - | - | - | - | 3 | Gain | - |
UBL7 | - | - | - | - | 3 | Gain | - |
UBLCP1 | - | - | - | - | 3 | Gain | - |
UBP1 | - | - | - | - | 1 | Loss | - |
UBQLN3 | - | - | - | - | 1 | Loss | - |
UBQLNL | - | - | - | - | 1 | Loss | - |
UBR1 | - | - | - | - | 1 | Loss | - |
UBR3 | - | - | - | - | 1 | Loss | - |
UBTD2 | - | - | - | - | 3 | Gain | - |
UBXN2A | - | - | - | - | 1 | Loss | - |
UBXN4 | - | - | - | - | 1 | Loss | - |
UBXN8 | - | - | - | - | 1 | Loss | - |
UCHL1 | - | - | - | - | 1 | Loss | - |
UCHL3 | - | - | - | - | 1 | Loss | - |
UCHL5 | p.S95N | Missense | SNP | 0.400 | 3 | Gain | - |
UCKL1 | - | - | - | - | 3 | Gain | - |
UCMA | - | - | - | - | 1 | Loss | - |
UCN | - | - | - | - | 1 | Loss | - |
UCN2 | - | - | - | - | 1 | Loss | - |
UCN3 | - | - | - | - | 1 | Loss | - |
UEVLD | - | - | - | - | 1 | Loss | - |
UFM1 | - | - | - | - | 1 | Loss | - |
UGDH | - | - | - | - | 1 | Loss | - |
UGGT1 | - | - | - | - | 3 | Gain | - |
UGGT2 | - | - | - | - | 1 | Loss | - |
UGP2 | - | - | - | - | 1 | Loss | - |
UGT1A1 | - | - | - | - | 1 | Loss | - |
UGT1A10 | - | - | - | - | 1 | Loss | - |
UGT1A3 | - | - | - | - | 1 | Loss | - |
UGT1A4 | - | - | - | - | 1 | Loss | - |
UGT1A5 | - | - | - | - | 1 | Loss | - |
UGT1A6 | - | - | - | - | 1 | Loss | - |
UGT1A7 | - | - | - | - | 1 | Loss | - |
UGT1A8 | - | - | - | - | 1 | Loss | - |
UGT1A9 | - | - | - | - | 1 | Loss | - |
UGT2A1 | p.M458I | Missense | SNP | 0.427 | 2 | - | - |
UGT2B15 | p.E239K | Missense | SNP | 0.479 | 2 | - | - |
UGT8 | - | - | - | - | 1 | Loss | - |
UHMK1 | p.H86D p.P367S | Missense Missense | SNP SNP | 0.612 0.182 | 2 | - | - |
UHRF1BP1 | p.L1428F | Missense | SNP | 0.667 | 2 | - | - |
UIMC1 | - | - | - | - | 3 | Gain | - |
ULK3 | - | - | - | - | 3 | Gain | - |
ULK4 | - | - | - | - | 1 | Loss | - |
UMAD1 | - | - | - | - | 1 | Loss | - |
UMODL1 | - | - | - | - | 1 | Loss | - |
UNC13C | - | - | - | - | 3 | Gain | - |
UNC13D | - | - | - | - | 3 | Gain | - |
UNC45A | - | - | - | - | 3 | Gain | - |
UNC50 | - | - | - | - | 3 | Gain | - |
UNC5A | - | - | - | - | 3 | Gain | - |
UNC5C | - | - | - | - | 1 | Loss | - |
UNC5D | - | - | - | - | 1 | Loss | - |
UNC80 | - | - | - | - | 1 | Loss | - |
UNC93A | p.T116S | Missense | SNP | 0.579 | 2 | - | - |
UNCX | - | - | - | - | 1 | Loss | - |
UNK | - | - | - | - | 3 | Gain | - |
UPF2 | - | - | - | - | 1 | Loss | - |
UPF3A | - | - | - | - | 1 | Loss | - |
UPK3A | p.N153H | Missense | SNP | 0.382 | 2 | - | - |
UPP1 | - | - | - | - | 1 | Loss | - |
UPP2 | - | - | - | - | 1 | Loss | - |
UQCRC1 | - | - | - | - | 1 | Loss | - |
UQCRQ | - | - | - | - | 1 | Loss | - |
URB1 | - | - | - | - | 1 | Loss | - |
URGCP | - | - | - | - | 1 | Loss | - |
URGCP-MRPS24 | - | - | - | - | 1 | Loss | - |
UROC1 | p.M498I | Missense | SNP | 0.603 | 2 | - | - |
USH1C | - | - | - | - | 1 | Loss | - |
USH1G | - | - | - | - | 3 | Gain | - |
USH2A | p.R3429S | Missense | SNP | 0.608 | 2 | - | - |
USP1 | p.R14K | Missense | SNP | 0.261 | 2 | - | - |
USP14 | - | - | - | - | 1 | Loss | - |
USP16 | - | - | - | - | 1 | Loss | - |
USP19 | - | - | - | - | 1 | Loss | - |
USP29 | p.P660L | Missense | SNP | 0.246 | 3 | Gain | - |
USP3 | - | - | - | - | 3 | Gain | - |
USP32 | - | - | - | - | 3 | Gain | - |
USP34 | - | - | - | - | 1 | Loss | - |
USP36 | - | - | - | - | 3 | Gain | - |
USP37 | - | - | - | - | 1 | Loss | - |
USP39 | - | - | - | - | 1 | Loss | - |
USP4 | - | - | - | - | 1 | Loss | - |
USP40 | - | - | - | - | 1 | Loss | - |
USP42 | - | - | - | - | 1 | Loss | - |
USP47 | - | - | - | - | 1 | Loss | - |
USP50 | - | - | - | - | 1 | Loss | - |
USP53 | - | - | - | - | 1 | Loss | - |
USP6NL | - | - | - | - | 1 | Loss | - |
USP8 | p.P578L | Missense | SNP | 1.000 | 1 | Loss | - |
USPL1 | - | - | - | - | 1 | Loss | - |
UTF1 | - | - | - | - | 3 | Gain | - |
UTP14C | - | - | - | - | 1 | Loss | - |
UTP15 | - | - | - | - | 1 | Loss | - |
UTRN | p.D142V | Missense | SNP | 0.500 | 2 | - | - |
UTS2R | - | - | - | - | 3 | Gain | - |
UXS1 | - | - | - | - | 3 | Gain | - |
VAMP5 | - | - | - | - | 3 | Gain | - |
VAMP8 | - | - | - | - | 3 | Gain | - |
VANGL1 | - | - | - | - | 3 | Gain | - |
VAPA | - | - | - | - | 1 | Loss | - |
VASH1 | p.E120* | Nonsense | SNP | 0.470 | 2 | - | - |
VAV3 | p.X535_splice | Splice_Site | SNP | 0.525 | 3 | Gain | - |
VAX2 | - | - | - | - | 1 | Loss | - |
VCAM1 | - | - | - | - | 3 | Gain | - |
VCAN | p.G149E | Missense | SNP | 0.688 | 1 | Loss | - |
VCX | p.P194L | Missense | SNP | 0.167 | ND | ND | - |
VDAC1 | - | - | - | - | 1 | Loss | - |
VENTX | - | - | - | - | 3 | Gain | - |
VGLL3 | - | - | - | - | 1 | Loss | - |
VGLL4 | - | - | - | - | 1 | Loss | - |
VHL | - | - | - | - | 1 | Loss | - |
VIL1 | - | - | - | - | 1 | Loss | - |
VILL | - | - | - | - | 1 | Loss | - |
VIM | - | - | - | - | 1 | Loss | - |
VIPR1 | - | - | - | - | 1 | Loss | - |
VIT | - | - | - | - | 1 | Loss | - |
VKORC1 | p.E56K | Missense | SNP | 0.456 | 2 | - | - |
VMO1 | p.P43L | Missense | SNP | 0.433 | 2 | - | - |
VMP1 | p.E361K | Missense | SNP | 0.146 | 2 | - | CLTC--VMP1 |
VN1R1 | - | - | - | - | 3 | Gain | - |
VN1R2 | p.E146K | Missense | SNP | 0.255 | 3 | Gain | - |
VN1R4 | p.R112K | Missense | SNP | 0.221 | 3 | Gain | - |
VOPP1 | - | - | - | - | 21 | Amp | - |
VPS13C | - | - | - | - | 3 | Gain | - |
VPS18 | - | - | - | - | 1 | Loss | - |
VPS26C | - | - | - | - | 1 | Loss | - |
VPS28 | - | - | - | - | 3 | Gain | - |
VPS33B | - | - | - | - | 3 | Gain | - |
VPS36 | - | - | - | - | 1 | Loss | - |
VPS37A | - | - | - | - | 1 | Loss | - |
VPS39 | - | - | - | - | 1 | Loss | - |
VPS41 | - | - | - | - | 1 | Loss | - |
VPS45 | p.M27K | Missense | SNP | 0.398 | 2 | - | - |
VPS4B | - | - | - | - | 1 | Loss | - |
VPS54 | - | - | - | - | 1 | Loss | - |
VPS72 | p.P361S | Missense | SNP | 0.534 | 2 | - | - |
VPS9D1 | p.L383V | Missense | SNP | 0.370 | 2 | - | - |
VRK2 | - | - | - | - | 1 | Loss | - |
VRK3 | p.P260S | Missense | SNP | 0.331 | 3 | Gain | - |
VSIG10L | p.S761L p.R570P | Missense Missense | SNP SNP | 0.321 0.369 | 3 | Gain | - |
VSNL1 | - | - | - | - | 1 | Loss | - |
VSTM1 | - | - | - | - | 3 | Gain | - |
VSTM2A | - | - | - | - | 1 | Loss | - |
VTCN1 | - | - | - | - | 3 | Gain | - |
VWA3B | - | - | - | - | 3 | Gain | - |
VWA8 | - | - | - | - | 1 | Loss | - |
VWC2 | - | - | - | - | 1 | Loss | - |
VWC2L | - | - | - | - | 1 | Loss | - |
VWDE | p.E573K | Missense | SNP | 0.629 | 1 | Loss | - |
VWF | p.P2506L | Missense | SNP | 1.000 | 2 | - | - |
WAC | - | - | - | - | 1 | Loss | - |
WARS2 | - | - | - | - | 3 | Gain | - |
WBP1 | - | - | - | - | 1 | Loss | - |
WBP11 | - | - | - | - | 1 | Loss | - |
WBP2 | - | - | - | - | 3 | Gain | - |
WBP4 | - | - | - | - | 1 | Loss | - |
WDCP | - | - | - | - | 1 | Loss | - |
WDFY1 | - | - | - | - | 1 | Loss | - |
WDFY2 | - | - | - | - | 1 | Loss | - |
WDFY3 | - | - | - | - | 1 | Loss | - |
WDPCP | - | - | - | - | 1 | Loss | - |
WDR11 | p.S1146C | Missense | SNP | 0.400 | 2 | - | - |
WDR12 | - | - | - | - | 1 | Loss | - |
WDR19 | - | - | - | - | 1 | Loss | - |
WDR3 | - | - | - | - | 3 | Gain | - |
WDR33 | - | - | - | - | 3 | Gain | - |
WDR35 | - | - | - | - | 1 | Loss | - |
WDR36 | - | - | - | - | 1 | Loss | - |
WDR37 | - | - | - | - | 1 | Loss | - |
WDR4 | - | - | - | - | 1 | Loss | - |
WDR41 | - | - | - | - | 1 | Loss | - |
WDR43 | - | - | - | - | 1 | Loss | - |
WDR45B | - | - | - | - | 3 | Gain | - |
WDR47 | p.V7M | Missense | SNP | 0.648 | 3 | Gain | - |
WDR48 | - | - | - | - | 1 | Loss | - |
WDR54 | - | - | - | - | 1 | Loss | - |
WDR55 | - | - | - | - | 1 | Loss | - |
WDR6 | - | - | - | - | 1 | Loss | - |
WDR61 | p.L90F | Missense | SNP | 0.473 | 3 | Gain | - |
WDR7 | - | - | - | - | 1 | Loss | - |
WDR72 | p.P827S | Missense | SNP | 0.589 | 3 | Gain | - |
WDR73 | - | - | - | - | 3 | Gain | - |
WDR75 | - | - | - | - | 1 | Loss | - |
WDR76 | - | - | - | - | 1 | Loss | - |
WDR77 | - | - | - | - | 3 | Gain | - |
WDR82 | - | - | - | - | 1 | Loss | - |
WDR92 | - | - | - | - | 1 | Loss | - |
WDR93 | - | - | - | - | 3 | Gain | - |
WDR97 | p.D710N | Missense | SNP | 0.345 | 3 | Gain | - |
WDSUB1 | - | - | - | - | 1 | Loss | - |
WDTC1 | - | - | - | - | 1 | Loss | - |
WEE1 | - | - | - | - | 1 | Loss | - |
WHAMM | - | - | - | - | 3 | Gain | - |
WHSC1L1 | p.P1072S | Missense | SNP | 0.440 | ND | ND | - |
WIPF1 | - | - | - | - | 1 | Loss | - |
WIPF3 | - | - | - | - | 13 | Amp | - |
WIPI1 | - | - | - | - | 3 | Gain | - |
WIPI2 | - | - | - | - | 1 | Loss | - |
WISP1 | - | - | - | - | 3 | Gain | - |
WNK3 | p.S1057F | Missense | SNP | 1.000 | ND | ND | - |
WNT10A | - | - | - | - | 1 | Loss | - |
WNT2B | - | - | - | - | 3 | Gain | - |
WNT5A | - | - | - | - | 1 | Loss | - |
WNT6 | - | - | - | - | 1 | Loss | - |
WNT7A | p.G291S | Missense | SNP | 1.000 | 1 | Loss | - |
WNT8A | - | - | - | - | 1 | Loss | - |
WNT9A | p.V360I | Missense | SNP | 0.340 | 2 | - | - |
WRB | - | - | - | - | 1 | Loss | - |
WRB-SH3BGR | - | - | - | - | 1 | Loss | - |
WRN | - | - | - | - | 1 | Loss | - |
WT1 | - | - | - | - | 1 | Loss | - |
WWC1 | - | - | - | - | 3 | Gain | - |
WWP2 | p.Y318F | Missense | SNP | 0.473 | 2 | - | - |
XCL1 | p.K87T | Missense | SNP | 0.386 | 2 | - | - |
XCR1 | - | - | - | - | 1 | Loss | - |
XDH | - | - | - | - | 1 | Loss | - |
XIRP1 | - | - | - | - | 1 | Loss | - |
XIRP2 | p.K1446E | Missense | SNP | 1.000 | 1 | Loss | - |
XKR3 | p.P34S | Missense | SNP | 0.561 | 2 | - | - |
XKR5 | - | - | - | - | 1 | Loss | - |
XKR6 | - | - | - | - | 1 | Loss | - |
XKR9 | p.W62* | Nonsense | SNP | 0.414 | 2 | - | - |
XPC | - | - | - | - | 1 | Loss | - |
XPO1 | p.A507T | Missense | SNP | 0.322 | 1 | Loss | - |
XPO7 | - | - | - | - | 1 | Loss | - |
XRCC4 | - | - | - | - | 1 | Loss | - |
XRCC5 | - | - | - | - | 1 | Loss | - |
XYLB | - | - | - | - | 1 | Loss | - |
YAE1 | - | - | - | - | 1 | Loss | - |
YBEY | - | - | - | - | 1 | Loss | - |
YES1 | - | - | - | - | 1 | Loss | - |
YIPF4 | - | - | - | - | 1 | Loss | - |
YIPF5 | - | - | - | - | 1 | Loss | - |
YIPF7 | - | - | - | - | 1 | Loss | - |
YJEFN3 | p.G289R | Missense | SNP | 0.609 | 2 | - | - |
YKT6 | - | - | - | - | 1 | Loss | - |
YLPM1 | p.S974L | Missense | SNP | 0.453 | 2 | - | - |
YME1L1 | - | - | - | - | 1 | Loss | YME1L1--PRR15 |
YPEL5 | - | - | - | - | 1 | Loss | - |
YTHDC1 | p.P612L p.E405D | Missense Missense | SNP SNP | 0.604 0.375 | 2 | - | - |
YTHDC2 | - | - | - | - | 1 | Loss | - |
YWHAQ | - | - | - | - | 1 | Loss | - |
Z84492.1 | - | - | - | - | 1 | Loss | - |
ZACN | - | - | - | - | 1 | Loss | - |
ZADH2 | - | - | - | - | 1 | Loss | - |
ZAP70 | - | - | - | - | 3 | Gain | - |
ZAR1 | - | - | - | - | 1 | Loss | - |
ZAR1L | - | - | - | - | 1 | Loss | - |
ZBED3 | - | - | - | - | 1 | Loss | - |
ZBED5 | - | - | - | - | 1 | Loss | - |
ZBED8 | - | - | - | - | 3 | Gain | - |
ZBED9 | p.S592Kfs*4 p.E266K | Frame_Shift_Ins Missense | INS SNP | 0.144 0.256 | 2 | - | - |
ZBTB10 | p.V806I | Missense | SNP | 0.485 | 2 | - | - |
ZBTB14 | - | - | - | - | 1 | Loss | - |
ZBTB21 | - | - | - | - | 1 | Loss | - |
ZBTB4 | p.S88C | Missense | SNP | 0.631 | 2 | - | - |
ZBTB41 | - | - | - | - | 3 | Gain | - |
ZBTB45 | - | - | - | - | 3 | Gain | - |
ZBTB46 | - | - | - | - | 3 | Gain | - |
ZBTB47 | - | - | - | - | 1 | Loss | - |
ZBTB7A | p.P524L p.H400Q | Missense Missense | SNP SNP | 0.364 0.545 | 2 | - | - |
ZBTB7C | - | - | - | - | 1 | Loss | - |
ZC3H11B | p.P730L | Missense | SNP | 0.124 | ND | ND | - |
ZC3H13 | - | - | - | - | 1 | Loss | - |
ZC3H15 | - | - | - | - | 1 | Loss | - |
ZC3H3 | - | - | - | - | 3 | Gain | - |
ZC3H6 | - | - | - | - | 3 | Gain | - |
ZC3H8 | - | - | - | - | 3 | Gain | - |
ZC4H2 | p.S131F | Missense | SNP | 1.000 | ND | ND | - |
ZCCHC10 | - | - | - | - | 1 | Loss | - |
ZCCHC2 | p.L704V | Missense | SNP | 0.688 | 1 | Loss | - |
ZCCHC9 | - | - | - | - | 1 | Loss | - |
ZCWPW2 | - | - | - | - | 1 | Loss | - |
ZDBF2 | - | - | - | - | 1 | Loss | - |
ZDHHC13 | - | - | - | - | 1 | Loss | - |
ZDHHC14 | p.P8L | Missense | SNP | 0.327 | 2 | - | - |
ZDHHC19 | p.P292S | Missense | SNP | 0.556 | 2 | - | - |
ZDHHC2 | - | - | - | - | 1 | Loss | - |
ZDHHC3 | - | - | - | - | 1 | Loss | - |
ZDHHC4 | - | - | - | - | 1 | Loss | - |
ZDHHC8 | p.L195H | Missense | SNP | 0.467 | 2 | - | - |
ZEB1 | p.Q978Hfs*9 | Frame_Shift_Del | DEL | 0.479 | 1 | Loss | - |
ZEB2 | - | - | - | - | 1 | Loss | - |
ZFAND2A | - | - | - | - | 1 | Loss | - |
ZFAND2B | - | - | - | - | 1 | Loss | - |
ZFAND6 | - | - | - | - | 3 | Gain | - |
ZFAT | p.E1167K | Missense | SNP | 0.291 | 3 | Gain | - |
ZFC3H1 | p.E470K | Missense | SNP | 0.488 | 2 | - | - |
ZFP1 | p.Q363* | Nonsense | SNP | 0.561 | 2 | - | - |
ZFP2 | - | - | - | - | 3 | Gain | - |
ZFP28 | - | - | - | - | 3 | Gain | - |
ZFP36L2 | - | - | - | - | 1 | Loss | - |
ZFP41 | - | - | - | - | 3 | Gain | - |
ZFP62 | - | - | - | - | 3 | Gain | - |
ZFP64 | p.S252F | Missense | SNP | 0.431 | 2 | - | - |
ZFPL1 | p.L280F | Missense | SNP | 0.444 | 2 | - | - |
ZFR | p.K830R | Missense | SNP | 0.529 | 2 | - | - |
ZFR2 | p.V554L | Missense | SNP | 0.562 | 2 | - | - |
ZFYVE16 | - | - | - | - | 1 | Loss | - |
ZFYVE19 | - | - | - | - | 1 | Loss | - |
ZGPAT | - | - | - | - | 3 | Gain | - |
ZGRF1 | - | - | - | - | 1 | Loss | - |
ZIC2 | - | - | - | - | 1 | Loss | - |
ZIC5 | - | - | - | - | 1 | Loss | - |
ZIK1 | - | - | - | - | 3 | Gain | - |
ZIM2 | - | - | - | - | 3 | Gain | - |
ZIM3 | p.E66K | Missense | SNP | 0.339 | 3 | Gain | - |
ZKSCAN7 | - | - | - | - | 1 | Loss | - |
ZMAT2 | - | - | - | - | 1 | Loss | - |
ZMAT4 | p.G96D | Missense | SNP | 0.234 | 2 | - | - |
ZMIZ2 | - | - | - | - | 1 | Loss | - |
ZMYND10 | - | - | - | - | 1 | Loss | - |
ZMYND11 | - | - | - | - | 1 | Loss | - |
ZNF101 | p.S152F | Missense | SNP | 0.638 | 2 | - | - |
ZNF106 | - | - | - | - | 1 | Loss | - |
ZNF114 | - | - | - | - | 3 | Gain | - |
ZNF12 | - | - | - | - | 1 | Loss | - |
ZNF132 | p.R521K | Missense | SNP | 0.538 | 2 | - | - |
ZNF134 | - | - | - | - | 3 | Gain | - |
ZNF135 | - | - | - | - | 3 | Gain | - |
ZNF142 | - | - | - | - | 1 | Loss | - |
ZNF143 | - | - | - | - | 1 | Loss | - |
ZNF154 | p.G129E | Missense | SNP | 0.341 | 3 | Gain | - |
ZNF16 | - | - | - | - | 3 | Gain | - |
ZNF160 | - | - | - | - | 3 | Gain | - |
ZNF17 | - | - | - | - | 3 | Gain | - |
ZNF175 | p.S8F | Missense | SNP | 0.273 | 3 | Gain | - |
ZNF195 | - | - | - | - | 1 | Loss | - |
ZNF197 | - | - | - | - | 1 | Loss | - |
ZNF2 | - | - | - | - | 3 | Gain | - |
ZNF211 | - | - | - | - | 3 | Gain | - |
ZNF214 | - | - | - | - | 1 | Loss | - |
ZNF215 | - | - | - | - | 1 | Loss | - |
ZNF222 | p.F398Y | Missense | SNP | 0.483 | 2 | - | - |
ZNF226 | p.S795F | Missense | SNP | 0.300 | 2 | - | - |
ZNF23 | p.S349F | Missense | SNP | 0.455 | 2 | - | - |
ZNF235 | p.P175L p.E170K | Missense Missense | SNP SNP | 0.494 0.472 | 2 | - | - |
ZNF236 | - | - | - | - | 1 | Loss | - |
ZNF24 | - | - | - | - | 1 | Loss | - |
ZNF248 | - | - | - | - | 1 | Loss | - |
ZNF25 | - | - | - | - | 1 | Loss | - |
ZNF250 | - | - | - | - | 3 | Gain | - |
ZNF251 | - | - | - | - | 3 | Gain | - |
ZNF254 | p.P88S | Missense | SNP | 0.463 | 2 | - | - |
ZNF256 | - | - | - | - | 3 | Gain | - |
ZNF263 | p.P307L | Missense | SNP | 0.495 | 2 | - | - |
ZNF264 | - | - | - | - | 3 | Gain | - |
ZNF274 | - | - | - | - | 3 | Gain | - |
ZNF28 | - | - | - | - | 3 | Gain | - |
ZNF280D | - | - | - | - | 3 | Gain | - |
ZNF281 | - | - | - | - | 3 | Gain | - |
ZNF300 | - | - | - | - | 1 | Loss | - |
ZNF302 | p.S127L | Missense | SNP | 0.478 | 2 | - | - |
ZNF304 | - | - | - | - | 3 | Gain | - |
ZNF316 | - | - | - | - | 1 | Loss | - |
ZNF318 | p.P1587S | Missense | SNP | 0.602 | 2 | - | - |
ZNF320 | p.E345* p.R320C | Nonsense Missense | SNP SNP | 0.321 0.314 | 3 | Gain | - |
ZNF324 | - | - | - | - | 3 | Gain | - |
ZNF324B | - | - | - | - | 3 | Gain | - |
ZNF326 | - | - | - | - | 3 | Gain | - |
ZNF329 | - | - | - | - | 3 | Gain | - |
ZNF331 | - | - | - | - | 3 | Gain | - |
ZNF33A | - | - | - | - | 1 | Loss | - |
ZNF34 | - | - | - | - | 3 | Gain | - |
ZNF343 | p.S222F p.S200F | Missense Missense | SNP SNP | 0.439 0.547 | 2 | - | - |
ZNF346 | - | - | - | - | 3 | Gain | - |
ZNF347 | - | - | - | - | 3 | Gain | - |
ZNF35 | - | - | - | - | 1 | Loss | - |
ZNF350 | - | - | - | - | 3 | Gain | - |
ZNF354A | - | - | - | - | 3 | Gain | - |
ZNF354B | - | - | - | - | 3 | Gain | - |
ZNF354C | - | - | - | - | 3 | Gain | - |
ZNF366 | - | - | - | - | 1 | Loss | - |
ZNF37A | - | - | - | - | 1 | Loss | - |
ZNF385B | - | - | - | - | 1 | Loss | - |
ZNF385C | - | - | - | - | 1 | Loss | - |
ZNF385D | p.P372S | Missense | SNP | 1.000 | 1 | Loss | - |
ZNF394 | p.Q377* | Nonsense | SNP | 0.341 | 2 | - | - |
ZNF395 | - | - | - | - | 1 | Loss | - |
ZNF396 | - | - | - | - | 1 | Loss | - |
ZNF397 | - | - | - | - | 1 | Loss | - |
ZNF404 | p.K358M | Missense | SNP | 0.351 | 2 | - | - |
ZNF407 | p.C1633* | Nonsense | SNP | 0.348 | 1 | Loss | - |
ZNF415 | - | - | - | - | 3 | Gain | - |
ZNF416 | - | - | - | - | 3 | Gain | - |
ZNF417 | - | - | - | - | 3 | Gain | - |
ZNF418 | p.H548Y p.R498C | Missense Missense | SNP SNP | 0.340 0.327 | 3 | Gain | - |
ZNF419 | - | - | - | - | 3 | Gain | - |
ZNF423 | p.P221S | Missense | SNP | 0.418 | 2 | - | - |
ZNF426 | p.E365D | Missense | SNP | 0.608 | 2 | - | - |
ZNF432 | - | - | - | - | 3 | Gain | - |
ZNF438 | - | - | - | - | 1 | Loss | - |
ZNF444 | - | - | - | - | 3 | Gain | - |
ZNF445 | - | - | - | - | 1 | Loss | - |
ZNF446 | - | - | - | - | 3 | Gain | - |
ZNF454 | - | - | - | - | 3 | Gain | - |
ZNF460 | - | - | - | - | 3 | Gain | - |
ZNF468 | - | - | - | - | 3 | Gain | - |
ZNF469 | p.E2996K | Missense | SNP | 0.392 | 2 | - | - |
ZNF470 | - | - | - | - | 3 | Gain | - |
ZNF471 | - | - | - | - | 3 | Gain | - |
ZNF473 | - | - | - | - | 3 | Gain | - |
ZNF474 | - | - | - | - | 1 | Loss | - |
ZNF479 | - | - | - | - | 3 | Gain | - |
ZNF480 | - | - | - | - | 3 | Gain | - |
ZNF488 | p.S296F | Missense | SNP | 0.445 | 2 | - | - |
ZNF501 | - | - | - | - | 1 | Loss | - |
ZNF502 | - | - | - | - | 1 | Loss | - |
ZNF511 | - | - | - | - | 3 | Gain | - |
ZNF511-PRAP1 | - | - | - | - | 3 | Gain | - |
ZNF512 | - | - | - | - | 1 | Loss | - |
ZNF512B | - | - | - | - | 3 | Gain | - |
ZNF513 | p.R264Q | Missense | SNP | 0.369 | 1 | Loss | - |
ZNF514 | - | - | - | - | 3 | Gain | - |
ZNF516 | - | - | - | - | 1 | Loss | - |
ZNF517 | - | - | - | - | 3 | Gain | - |
ZNF519 | - | - | - | - | 1 | Loss | - |
ZNF521 | p.A386V | Missense | SNP | 0.474 | 2 | - | - |
ZNF524 | - | - | - | - | 3 | Gain | - |
ZNF525 | - | - | - | - | 3 | Gain | - |
ZNF528 | - | - | - | - | 3 | Gain | - |
ZNF530 | - | - | - | - | 3 | Gain | - |
ZNF532 | - | - | - | - | 1 | Loss | - |
ZNF534 | - | - | - | - | 3 | Gain | - |
ZNF536 | p.A82S | Missense | SNP | 0.517 | 2 | - | - |
ZNF543 | - | - | - | - | 3 | Gain | - |
ZNF547 | - | - | - | - | 3 | Gain | - |
ZNF548 | - | - | - | - | 3 | Gain | - |
ZNF549 | - | - | - | - | 3 | Gain | - |
ZNF550 | - | - | - | - | 3 | Gain | - |
ZNF551 | - | - | - | - | 3 | Gain | - |
ZNF552 | - | - | - | - | 3 | Gain | - |
ZNF555 | p.E359K | Missense | SNP | 0.600 | 2 | - | - |
ZNF560 | p.E47K | Missense | SNP | 0.417 | 2 | - | - |
ZNF577 | - | - | - | - | 3 | Gain | - |
ZNF578 | - | - | - | - | 3 | Gain | - |
ZNF579 | - | - | - | - | 3 | Gain | - |
ZNF580 | - | - | - | - | 3 | Gain | - |
ZNF581 | - | - | - | - | 3 | Gain | - |
ZNF582 | - | - | - | - | 3 | Gain | - |
ZNF583 | p.V412L | Missense | SNP | 0.287 | 3 | Gain | - |
ZNF586 | - | - | - | - | 3 | Gain | - |
ZNF587 | - | - | - | - | 3 | Gain | - |
ZNF587B | - | - | - | - | 3 | Gain | - |
ZNF589 | - | - | - | - | 1 | Loss | - |
ZNF592 | p.H278Y | Missense | SNP | 0.590 | 3 | Gain | - |
ZNF596 | - | - | - | - | 1 | Loss | - |
ZNF598 | p.L648R | Missense | SNP | 0.489 | 2 | - | - |
ZNF600 | - | - | - | - | 3 | Gain | - |
ZNF605 | p.F462C | Missense | SNP | 0.559 | 2 | - | - |
ZNF606 | - | - | - | - | 3 | Gain | - |
ZNF608 | - | - | - | - | 1 | Loss | - |
ZNF609 | - | - | - | - | 3 | Gain | - |
ZNF610 | p.D182N | Missense | SNP | 0.268 | 3 | Gain | - |
ZNF611 | - | - | - | - | 3 | Gain | - |
ZNF613 | p.R99K | Missense | SNP | 0.298 | 3 | Gain | - |
ZNF614 | - | - | - | - | 3 | Gain | - |
ZNF615 | - | - | - | - | 3 | Gain | - |
ZNF616 | - | - | - | - | 3 | Gain | - |
ZNF619 | - | - | - | - | 1 | Loss | - |
ZNF620 | - | - | - | - | 1 | Loss | - |
ZNF621 | - | - | - | - | 1 | Loss | - |
ZNF623 | - | - | - | - | 3 | Gain | - |
ZNF628 | - | - | - | - | 3 | Gain | - |
ZNF638 | - | - | - | - | 1 | Loss | - |
ZNF644 | - | - | - | - | 3 | Gain | - |
ZNF649 | p.C383G | Missense | SNP | 0.354 | 3 | Gain | - |
ZNF654 | - | - | - | - | 1 | Loss | - |
ZNF658 | - | - | - | - | 3 | Gain | - |
ZNF660 | - | - | - | - | 1 | Loss | - |
ZNF662 | - | - | - | - | 1 | Loss | - |
ZNF665 | - | - | - | - | 3 | Gain | - |
ZNF667 | - | - | - | - | 3 | Gain | - |
ZNF669 | p.H152Y | Missense | SNP | 0.689 | 2 | - | - |
ZNF671 | - | - | - | - | 3 | Gain | - |
ZNF677 | - | - | - | - | 3 | Gain | - |
ZNF680 | p.S169L | Missense | SNP | 0.409 | 2 | - | - |
ZNF69 | p.E37K p.R526K | Missense Missense | SNP SNP | 0.477 0.508 | 2 | - | - |
ZNF696 | - | - | - | - | 3 | Gain | - |
ZNF697 | - | - | - | - | 3 | Gain | - |
ZNF7 | - | - | - | - | 3 | Gain | - |
ZNF701 | p.Q166* p.N486I | Nonsense Missense | SNP SNP | 0.346 0.304 | 3 | Gain | - |
ZNF703 | - | - | - | - | 1 | Loss | - |
ZNF707 | - | - | - | - | 3 | Gain | - |
ZNF71 | - | - | - | - | 3 | Gain | - |
ZNF710 | - | - | - | - | 3 | Gain | - |
ZNF713 | - | - | - | - | 20 | Amp | - |
ZNF716 | p.R261K | Missense | SNP | 0.515 | 3 | Gain | - |
ZNF717 | p.E489K | Missense | SNP | 0.236 | 1 | Loss | - |
ZNF726 | p.Q296L | Missense | SNP | 0.506 | 2 | - | - |
ZNF728 | p.H586I | Missense | MNP | 0.568 | 2 | - | - |
ZNF730 | p.S169L p.E315K p.K347T | Missense Missense Missense | SNP SNP SNP | 0.441 0.563 0.537 | 2 | - | - |
ZNF746 | p.P258L | Missense | SNP | 0.712 | 2 | - | - |
ZNF749 | - | - | - | - | 3 | Gain | - |
ZNF750 | - | - | - | - | 3 | Gain | - |
ZNF761 | p.G406R | Missense | SNP | 0.675 | 3 | Gain | - |
ZNF765 | - | - | - | - | 3 | Gain | - |
ZNF766 | - | - | - | - | 3 | Gain | - |
ZNF772 | - | - | - | - | 3 | Gain | - |
ZNF773 | - | - | - | - | 3 | Gain | - |
ZNF774 | - | - | - | - | 3 | Gain | - |
ZNF776 | - | - | - | - | 3 | Gain | - |
ZNF784 | - | - | - | - | 3 | Gain | - |
ZNF787 | p.P65F | Missense | MNP | 0.370 | 3 | Gain | - |
ZNF792 | p.P309S | Missense | SNP | 0.419 | 2 | - | - |
ZNF804A | p.H936D | Missense | SNP | 1.000 | 1 | Loss | - |
ZNF804B | p.H287Y p.G884E | Missense Missense | SNP SNP | 0.618 0.458 | 2 | - | - |
ZNF805 | - | - | - | - | 3 | Gain | - |
ZNF808 | - | - | - | - | 3 | Gain | - |
ZNF813 | - | - | - | - | 3 | Gain | - |
ZNF814 | - | - | - | - | 3 | Gain | - |
ZNF816 | - | - | - | - | 3 | Gain | - |
ZNF816-ZNF321P | - | - | - | - | 3 | Gain | - |
ZNF83 | - | - | - | - | 3 | Gain | - |
ZNF835 | p.A335T | Missense | SNP | 0.281 | 3 | Gain | - |
ZNF836 | - | - | - | - | 3 | Gain | - |
ZNF841 | - | - | - | - | 3 | Gain | - |
ZNF845 | - | - | - | - | 3 | Gain | - |
ZNF85 | p.H448Y | Missense | SNP | 0.486 | 2 | - | - |
ZNF852 | - | - | - | - | 1 | Loss | - |
ZNF853 | - | - | - | - | 1 | Loss | - |
ZNF860 | - | - | - | - | 1 | Loss | - |
ZNF865 | - | - | - | - | 3 | Gain | - |
ZNF879 | - | - | - | - | 3 | Gain | - |
ZNF880 | - | - | - | - | 3 | Gain | - |
ZNF888 | - | - | - | - | 3 | Gain | - |
ZNF92 | p.P536S | Missense | SNP | 0.196 | 2 | - | - |
ZNRF2 | - | - | - | - | 21 | Amp | - |
ZP2 | p.T633I | Missense | SNP | 0.357 | 2 | - | - |
ZPBP | - | - | - | - | 1 | Loss | - |
ZRANB1 | p.Q231* | Nonsense | SNP | 0.642 | 2 | - | - |
ZRANB3 | - | - | - | - | 1 | Loss | - |
ZSCAN1 | - | - | - | - | 3 | Gain | - |
ZSCAN10 | p.P206R | Missense | SNP | 0.466 | 2 | - | - |
ZSCAN18 | p.E363K | Missense | SNP | 0.362 | 3 | Gain | - |
ZSCAN2 | - | - | - | - | 3 | Gain | - |
ZSCAN29 | - | - | - | - | 1 | Loss | - |
ZSCAN30 | - | - | - | - | 1 | Loss | - |
ZSCAN4 | - | - | - | - | 3 | Gain | - |
ZSCAN5A | - | - | - | - | 3 | Gain | - |
ZSCAN5B | - | - | - | - | 3 | Gain | - |
ZSCAN5C | - | - | - | - | 3 | Gain | - |
ZSWIM2 | - | - | - | - | 1 | Loss | - |
ZSWIM6 | - | - | - | - | 1 | Loss | - |
ZSWIM9 | - | - | - | - | 3 | Gain | - |
ZWILCH | - | - | - | - | 3 | Gain | - |