Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A1BG | - | - | - | - | 1 | Loss | - |
A2ML1 | p.G385E | Missense | SNP | 0.500 | 2 | - | - |
A4GNT | - | - | - | - | 3 | Gain | - |
AADAC | - | - | - | - | 3 | Gain | - |
AADACL2 | - | - | - | - | 3 | Gain | - |
AADAT | - | - | - | - | 1 | Loss | - |
AARD | - | - | - | - | 5 | Amp | - |
AASDH | p.G435R | Missense | SNP | 0.353 | 2 | - | - |
AASS | - | - | - | - | 3 | Gain | - |
ABCA1 | p.P582L | Missense | SNP | 0.295 | 3 | Gain | - |
ABCA13 | p.R4214Q p.Q4732* p.K4959N | Missense Nonsense Missense | SNP SNP SNP | 0.405 0.516 0.427 | 3 | Gain | - |
ABCA2 | - | - | - | - | 3 | Gain | - |
ABCA7 | - | - | - | - | 1 | Loss | - |
ABCA8 | p.F1234Y | Missense | SNP | 0.163 | 2 | - | - |
ABCB1 | - | - | - | - | 3 | Gain | - |
ABCB4 | - | - | - | - | 3 | Gain | - |
ABCB5 | p.V249I | Missense | SNP | 0.454 | 3 | Gain | - |
ABCB8 | - | - | - | - | 3 | Gain | - |
ABCC11 | p.E358V | Missense | SNP | 0.545 | 2 | - | - |
ABCC5 | - | - | - | - | 3 | Gain | - |
ABCC6 | p.E1075K | Missense | SNP | 0.615 | 2 | - | - |
ABCC9 | p.S740F | Missense | SNP | 0.426 | 2 | - | - |
ABCF2 | - | - | - | - | 3 | Gain | - |
ABCF3 | - | - | - | - | 3 | Gain | - |
ABCG2 | p.G80K | Missense | MNP | 0.326 | 2 | - | - |
ABCG4 | p.P322L | Missense | SNP | 0.502 | 2 | - | - |
ABHD10 | - | - | - | - | 3 | Gain | - |
ABHD11 | p.L152R | Missense | SNP | 0.453 | 3 | Gain | - |
ABHD14A | - | - | - | - | 1 | Loss | - |
ABHD14A-ACY1 | - | - | - | - | 1 | Loss | - |
ABHD14B | - | - | - | - | 1 | Loss | - |
ABHD15 | p.P227S | Missense | SNP | 0.691 | 2 | - | - |
ABHD17A | - | - | - | - | 1 | Loss | - |
ABHD17B | - | - | - | - | 3 | Gain | - |
ABHD5 | - | - | - | - | 1 | Loss | - |
ABHD6 | - | - | - | - | 1 | Loss | - |
ABI3 | p.S308L | Missense | SNP | 0.281 | 2 | - | - |
ABI3BP | - | - | - | - | 3 | Gain | - |
ABL1 | - | - | - | - | 3 | Gain | - |
ABLIM1 | p.S756F | Missense | SNP | 0.497 | 2 | - | - |
ABLIM3 | - | - | - | - | 1 | Loss | - |
ABO | - | - | - | - | 3 | Gain | - |
ABR | - | - | - | - | 1 | Loss | - |
ABRA | - | - | - | - | 5 | Amp | - |
ABTB1 | - | - | - | - | 3 | Gain | - |
AC000120.2 | - | - | - | - | 3 | Gain | - |
AC000120.3 | - | - | - | - | 3 | Gain | - |
AC002985.1 | - | - | - | - | 1 | Loss | - |
AC003002.1 | - | - | - | - | 1 | Loss | - |
AC003002.2 | - | - | - | - | 1 | Loss | - |
AC003002.3 | - | - | - | - | 1 | Loss | - |
AC003005.1 | - | - | - | - | 1 | Loss | - |
AC003006.1 | - | - | - | - | 1 | Loss | - |
AC003688.1 | - | - | - | - | 1 | Loss | - |
AC004076.1 | - | - | - | - | 1 | Loss | - |
AC004080.3 | - | - | - | - | 3 | Gain | - |
AC004593.3 | - | - | - | - | 3 | Gain | - |
AC004691.2 | - | - | - | - | 3 | Gain | - |
AC004922.1 | - | - | - | - | 3 | Gain | - |
AC005020.2 | - | - | - | - | 3 | Gain | - |
AC005041.1 | - | - | - | - | 1 | Loss | - |
AC005154.5 | - | - | - | - | 3 | Gain | - |
AC005258.1 | - | - | - | - | 1 | Loss | - |
AC005324.3 | - | - | - | - | 1 | Loss | - |
AC005324.4 | - | - | - | - | 1 | Loss | - |
AC005779.2 | - | - | - | - | 1 | Loss | - |
AC005943.1 | - | - | - | - | 1 | Loss | - |
AC006030.1 | - | - | - | - | 1 | Loss | - |
AC006059.2 | - | - | - | - | 1 | Loss | - |
AC006254.1 | - | - | - | - | 1 | Loss | - |
AC006538.2 | - | - | - | - | 1 | Loss | - |
AC006978.2 | - | - | - | - | 3 | Gain | - |
AC007846.2 | - | - | - | - | 1 | Loss | - |
AC008403.1 | - | - | - | - | 1 | Loss | - |
AC008676.3 | - | - | - | - | 1 | Loss | - |
AC008687.4 | - | - | - | - | 1 | Loss | - |
AC008687.8 | - | - | - | - | 1 | Loss | - |
AC008695.1 | - | - | - | - | 1 | Loss | - |
AC008750.8 | - | - | - | - | 1 | Loss | - |
AC008763.2 | - | - | - | - | 1 | Loss | - |
AC008763.3 | - | - | - | - | 1 | Loss | - |
AC008878.1 | - | - | - | - | 1 | Loss | - |
AC008878.2 | - | - | - | - | 1 | Loss | - |
AC008878.3 | - | - | - | - | 1 | Loss | - |
AC009879.2 | - | - | - | - | 5 | Amp | - |
AC009879.3 | - | - | - | - | 5 | Amp | - |
AC010132.3 | - | - | - | - | 3 | Gain | - |
AC010255.3 | - | - | - | - | 1 | Loss | - |
AC010487.3 | - | - | - | - | 1 | Loss | - |
AC010522.1 | - | - | - | - | 1 | Loss | - |
AC010615.4 | - | - | - | - | 1 | Loss | - |
AC010619.1 | - | - | - | - | 1 | Loss | - |
AC011005.1 | - | - | - | - | 3 | Gain | - |
AC011448.1 | - | - | - | - | 1 | Loss | - |
AC011452.1 | - | - | - | - | 1 | Loss | - |
AC011473.4 | - | - | - | - | 1 | Loss | - |
AC011498.4 | - | - | - | - | 1 | Loss | - |
AC011499.1 | - | - | - | - | 1 | Loss | - |
AC011530.1 | - | - | - | - | 1 | Loss | - |
AC012213.5 | - | - | - | - | 5 | Amp | - |
AC018709.1 | - | - | - | - | 1 | Loss | - |
AC018755.2 | - | - | - | - | 1 | Loss | - |
AC019117.2 | - | - | - | - | 3 | Gain | - |
AC020636.2 | - | - | - | - | 3 | Gain | - |
AC020909.1 | - | - | - | - | 1 | Loss | - |
AC020915.1 | - | - | - | - | 1 | Loss | - |
AC020915.5 | - | - | - | - | 1 | Loss | - |
AC021097.2 | - | - | - | - | 3 | Gain | - |
AC021097.3 | - | - | - | - | 3 | Gain | - |
AC021660.3 | - | - | - | - | 3 | Gain | - |
AC022384.1 | - | - | - | - | 1 | Loss | - |
AC022826.2 | - | - | - | - | 5 | Amp | - |
AC024592.3 | - | - | - | - | 1 | Loss | - |
AC026316.5 | - | - | - | - | 3 | Gain | - |
AC026398.1 | - | - | - | - | 1 | Loss | - |
AC026954.2 | - | - | - | - | 1 | Loss | - |
AC027644.4 | - | - | - | - | 3 | Gain | - |
AC027796.3 | - | - | - | - | 1 | Loss | - |
AC036214.3 | - | - | - | - | 5 | Amp | - |
AC055811.2 | - | - | - | - | 1 | Loss | - |
AC068533.4 | - | - | - | - | 3 | Gain | - |
AC068631.2 | - | - | - | - | 3 | Gain | - |
AC069257.3 | - | - | - | - | 3 | Gain | - |
AC069444.2 | - | - | - | - | 3 | Gain | - |
AC073111.3 | - | - | - | - | 3 | Gain | - |
AC079594.2 | - | - | - | - | 3 | Gain | - |
AC083800.1 | - | - | - | - | 3 | Gain | - |
AC090004.1 | - | - | - | - | 1 | Loss | - |
AC091959.3 | - | - | - | - | 1 | Loss | - |
AC092042.3 | - | - | - | - | 1 | Loss | - |
AC092329.3 | - | - | - | - | 1 | Loss | - |
AC092647.5 | - | - | - | - | 3 | Gain | - |
AC093668.2 | - | - | - | - | 3 | Gain | - |
AC093668.3 | - | - | - | - | 3 | Gain | - |
AC096887.1 | - | - | - | - | 1 | Loss | - |
AC097634.4 | - | - | - | - | 1 | Loss | - |
AC097636.1 | - | - | - | - | 1 | Loss | - |
AC097637.1 | - | - | - | - | 1 | Loss | - |
AC098650.1 | - | - | - | - | 1 | Loss | - |
AC098850.3 | - | - | - | - | 1 | Loss | - |
AC100868.1 | - | - | - | - | 5 | Amp | - |
AC104109.3 | - | - | - | - | 1 | Loss | - |
AC104304.1 | - | - | - | - | 1 | Loss | - |
AC104304.4 | p.R76L | Missense | SNP | 0.659 | ND | ND | - |
AC104452.1 | - | - | - | - | 1 | Loss | - |
AC104472.3 | - | - | - | - | 3 | Gain | - |
AC104532.1 | - | - | - | - | 1 | Loss | - |
AC104581.2 | - | - | - | - | 1 | Loss | - |
AC105052.1 | - | - | - | - | 3 | Gain | - |
AC105052.3 | - | - | - | - | 3 | Gain | - |
AC109583.3 | - | - | - | - | 1 | Loss | - |
AC112128.1 | - | - | - | - | 3 | Gain | - |
AC112504.2 | - | - | - | - | 3 | Gain | - |
AC113348.2 | - | - | - | - | 1 | Loss | - |
AC115220.1 | - | - | - | - | 3 | Gain | - |
AC116366.3 | - | - | - | - | 1 | Loss | - |
AC117457.1 | - | - | - | - | 3 | Gain | - |
AC118470.1 | - | - | - | - | 3 | Gain | - |
AC119396.1 | - | - | - | - | 1 | Loss | - |
AC120057.2 | - | - | - | - | 1 | Loss | - |
AC129492.3 | - | - | - | - | 1 | Loss | - |
AC131160.1 | - | - | - | - | 3 | Gain | - |
AC135178.2 | - | - | - | - | 1 | Loss | - |
AC138647.1 | p.W43*;p.E44K | Nonsense | MNP | 0.298 | 6 | Amp | - |
AC138696.1 | - | - | - | - | 6 | Amp | - |
AC139491.7 | - | - | - | - | 1 | Loss | - |
AC142391.1 | - | - | - | - | 1 | Loss | - |
AC187653.1 | - | - | - | - | 3 | Gain | - |
ACAA1 | - | - | - | - | 1 | Loss | - |
ACACB | p.E1058K | Missense | SNP | 0.532 | 2 | - | - |
ACAD11 | - | - | - | - | 3 | Gain | - |
ACAD9 | - | - | - | - | 3 | Gain | - |
ACADVL | - | - | - | - | 1 | Loss | - |
ACAN | p.P1859S p.A2191V | Missense Missense | SNP SNP | 0.555 0.453 | 2 | - | - |
ACAP1 | - | - | - | - | 1 | Loss | - |
ACAP2 | - | - | - | - | 3 | Gain | - |
ACD | p.L511F | Missense | SNP | 0.363 | 2 | - | - |
ACER1 | - | - | - | - | 1 | Loss | - |
ACER2 | - | - | - | - | 1 | Loss | - |
ACHE | - | - | - | - | 3 | Gain | - |
ACKR2 | - | - | - | - | 1 | Loss | - |
ACKR4 | - | - | - | - | 3 | Gain | - |
ACMSD | p.X34_splice | Splice_Site | SNP | 0.559 | 2 | - | - |
ACO1 | - | - | - | - | 1 | Loss | - |
ACOT7 | p.G97E | Missense | SNP | 0.600 | 2 | - | - |
ACOX2 | p.V53A | Missense | SNP | 0.608 | 1 | Loss | - |
ACP4 | - | - | - | - | 1 | Loss | - |
ACPP | - | - | - | - | 3 | Gain | - |
ACSBG2 | - | - | - | - | 1 | Loss | - |
ACSL1 | - | - | - | - | 1 | Loss | - |
ACSL6 | - | - | - | - | 1 | Loss | - |
ACSM2A | p.R5L p.R108C | Missense Missense | SNP SNP | 0.563 0.052 | 2 | - | - |
ACSM2B | p.R108C | Missense | SNP | 0.451 | 2 | - | - |
ACTB | - | - | - | - | 3 | Gain | RNA5-8SN2--ACTB |
ACTG2 | - | - | - | - | 1 | Loss | - |
ACTL6A | - | - | - | - | 3 | Gain | - |
ACTL6B | - | - | - | - | 3 | Gain | - |
ACTL7A | - | - | - | - | 3 | Gain | - |
ACTL7B | - | - | - | - | 3 | Gain | - |
ACTN4 | p.G377S | Missense | SNP | 0.439 | 2 | - | - |
ACTR3B | - | - | - | - | 3 | Gain | - |
ACTR3C | - | - | - | - | 3 | Gain | - |
ACTR8 | - | - | - | - | 1 | Loss | - |
ACTRT2 | p.P274L | Missense | SNP | 0.602 | 2 | - | - |
ACTRT3 | - | - | - | - | 3 | Gain | - |
ACVR2B | p.G271D | Missense | SNP | 0.670 | 1 | Loss | - |
ACVRL1 | p.G158R | Missense | SNP | 0.597 | 2 | - | - |
ACY1 | - | - | - | - | 1 | Loss | - |
ADAM19 | - | - | - | - | 1 | Loss | - |
ADAM22 | - | - | - | - | 3 | Gain | - |
ADAM28 | p.E162K | Missense | SNP | 0.364 | 2 | - | - |
ADAM29 | - | - | - | - | 1 | Loss | - |
ADAM30 | p.E721K | Missense | SNP | 0.452 | 2 | - | - |
ADAM32 | p.Q18K p.S330L | Missense Missense | SNP SNP | 0.595 0.631 | 2 | - | - |
ADAMTS13 | p.F751L | Missense | SNP | 1.000 | 3 | Gain | - |
ADAMTS15 | p.P884L | Missense | SNP | 0.507 | 2 | - | - |
ADAMTS18 | p.G353E | Missense | SNP | 0.378 | 2 | - | - |
ADAMTS19 | p.K512R | Missense | SNP | 0.589 | 1 | Loss | - |
ADAMTS2 | - | - | - | - | 1 | Loss | - |
ADAMTS6 | p.G481S | Missense | SNP | 0.558 | 2 | - | - |
ADAMTS7 | p.G328R | Missense | SNP | 0.528 | 2 | - | - |
ADAMTS9 | - | - | - | - | 1 | Loss | - |
ADAMTSL1 | - | - | - | - | 1 | Loss | - |
ADAMTSL2 | - | - | - | - | 3 | Gain | - |
ADAMTSL5 | - | - | - | - | 1 | Loss | - |
ADAP1 | - | - | - | - | 3 | Gain | - |
ADARB1 | p.T732I | Missense | SNP | 0.500 | 2 | - | - |
ADAT3 | - | - | - | - | 1 | Loss | - |
ADCK1 | p.X194_splice | Splice_Site | SNP | 0.354 | 2 | - | - |
ADCK2 | - | - | - | - | 3 | Gain | - |
ADCK5 | - | - | - | - | 6 | Amp | - |
ADCY1 | - | - | - | - | 3 | Gain | - |
ADCY5 | - | - | - | - | 3 | Gain | - |
ADCY8 | p.G1219E | Missense | SNP | 0.158 | 5 | Amp | - |
ADCYAP1R1 | - | - | - | - | 3 | Gain | - |
ADGB | p.Y902S | Missense | SNP | 0.566 | 2 | - | - |
ADGRA2 | p.A228V p.E863K | Missense Missense | SNP SNP | 0.493 0.606 | 2 | - | - |
ADGRB1 | - | - | - | - | 6 | Amp | - |
ADGRD2 | - | - | - | - | 3 | Gain | - |
ADGRE1 | - | - | - | - | 1 | Loss | - |
ADGRE2 | p.A330V | Missense | SNP | 0.484 | 2 | - | - |
ADGRE3 | p.L498H | Missense | SNP | 0.610 | 2 | - | - |
ADGRE5 | p.S578W | Missense | SNP | 0.500 | 2 | - | - |
ADGRG7 | - | - | - | - | 3 | Gain | - |
ADGRL4 | p.A287T | Missense | SNP | 0.458 | 2 | - | - |
ADGRV1 | p.P1346S | Missense | SNP | 0.390 | 2 | - | - |
ADHFE1 | - | - | - | - | 5 | Amp | - |
ADIPOQ | - | - | - | - | 3 | Gain | - |
ADM5 | - | - | - | - | 1 | Loss | - |
ADORA2B | - | - | - | - | 1 | Loss | - |
ADPRH | - | - | - | - | 3 | Gain | - |
ADPRM | - | - | - | - | 1 | Loss | - |
ADRB2 | - | - | - | - | 1 | Loss | - |
ADSS | - | - | - | - | 3 | Gain | - |
AEBP1 | p.T178I | Missense | SNP | 0.457 | 3 | Gain | - |
AES | - | - | - | - | 1 | Loss | - |
AFAP1 | p.Y184N | Missense | SNP | 0.605 | 2 | - | - |
AFAP1L1 | - | - | - | - | 1 | Loss | - |
AFF1 | p.S691L | Missense | SNP | 0.306 | 2 | - | - |
AFF3 | p.S704F | Missense | SNP | 0.569 | 2 | - | - |
AFF4 | - | - | - | - | 1 | Loss | - |
AGA | - | - | - | - | 1 | Loss | - |
AGAP14P | p.Y314* | Nonsense | SNP | 0.258 | ND | ND | - |
AGAP3 | - | - | - | - | 3 | Gain | - |
AGBL3 | - | - | - | - | 3 | Gain | - |
AGFG2 | - | - | - | - | 3 | Gain | - |
AGK | - | - | - | - | 3 | Gain | - |
AGMO | - | - | - | - | 3 | Gain | - |
AGO2 | - | - | - | - | 5 | Amp | - |
AGPAT2 | - | - | - | - | 3 | Gain | - |
AGR2 | - | - | - | - | 3 | Gain | - |
AGR3 | - | - | - | - | 3 | Gain | - |
AGRN | p.Q431* | Nonsense | SNP | 0.473 | 2 | - | - |
AGTPBP1 | - | - | - | - | 3 | Gain | - |
AGTR1 | - | - | - | - | 3 | Gain | - |
AHCTF1 | - | - | - | - | 3 | Gain | - |
AHCYL2 | - | - | - | - | 3 | Gain | - |
AHNAK2 | p.P4021Wfs*10 p.S4517F p.S338L | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.351 0.418 0.548 | 2 | - | - |
AHR | - | - | - | - | 3 | Gain | - |
AHRR | p.G103E | Missense | SNP | 0.511 | 2 | - | - |
AHSG | - | - | - | - | 3 | Gain | - |
AIF1L | - | - | - | - | 3 | Gain | - |
AIG1 | p.F187L | Missense | SNP | 0.132 | 2 | - | - |
AIM1L | p.M1046I | Missense | SNP | 0.588 | ND | ND | - |
AIMP2 | - | - | - | - | 3 | Gain | - |
AIPL1 | - | - | - | - | 1 | Loss | - |
AJM1 | - | - | - | - | 3 | Gain | - |
AJUBA | p.G198E | Missense | SNP | 0.434 | 2 | - | - |
AK1 | - | - | - | - | 3 | Gain | - |
AK3 | - | - | - | - | 1 | Loss | - |
AK8 | - | - | - | - | 3 | Gain | - |
AKAP10 | - | - | - | - | 1 | Loss | - |
AKAP2 | - | - | - | - | 3 | Gain | - |
AKAP8 | p.G302S | Missense | SNP | 0.524 | 2 | - | - |
AKAP9 | - | - | - | - | 3 | Gain | - |
AKNA | - | - | - | - | 3 | Gain | - |
AKR1B1 | - | - | - | - | 3 | Gain | - |
AKR1B10 | - | - | - | - | 3 | Gain | - |
AKR1B15 | p.P109S | Missense | SNP | 0.468 | 3 | Gain | - |
AKR1D1 | p.E152K | Missense | SNP | 1.000 | 3 | Gain | - |
AKT1S1 | - | - | - | - | 1 | Loss | - |
AKT3 | - | - | - | - | 3 | Gain | - |
AL133410.3 | - | - | - | - | 1 | Loss | - |
AL138752.2 | - | - | - | - | 1 | Loss | - |
AL157935.2 | - | - | - | - | 3 | Gain | - |
AL160269.1 | - | - | - | - | 3 | Gain | - |
AL160272.2 | - | - | - | - | 3 | Gain | - |
AL162231.1 | - | - | - | - | 1 | Loss | - |
AL162231.3 | - | - | - | - | 1 | Loss | - |
AL162417.1 | - | - | - | - | 3 | Gain | - |
AL355987.1 | - | - | - | - | 3 | Gain | - |
AL355987.3 | - | - | - | - | 3 | Gain | - |
AL358113.1 | - | - | - | - | 3 | Gain | - |
AL359922.1 | - | - | - | - | 1 | Loss | - |
AL513165.2 | - | - | - | - | 1 | Loss | - |
AL672142.1 | - | - | - | - | 3 | Gain | - |
AL807752.6 | - | - | - | - | 3 | Gain | - |
AL807752.7 | - | - | - | - | 3 | Gain | - |
AL929554.1 | - | - | - | - | 3 | Gain | - |
ALAD | - | - | - | - | 3 | Gain | - |
ALAS1 | - | - | - | - | 1 | Loss | - |
ALCAM | - | - | - | - | 3 | Gain | - |
ALDH16A1 | - | - | - | - | 1 | Loss | - |
ALDH1A1 | - | - | - | - | 3 | Gain | - |
ALDH1B1 | - | - | - | - | 1 | Loss | - |
ALDH1L1 | - | - | - | - | 3 | Gain | - |
ALDH3A1 | - | - | - | - | 1 | Loss | - |
ALDH3A2 | - | - | - | - | 1 | Loss | - |
ALDH5A1 | p.P288S | Missense | SNP | 1.000 | 2 | - | - |
ALDH7A1 | - | - | - | - | 1 | Loss | - |
ALDOB | - | - | - | - | 3 | Gain | - |
ALG1L | - | - | - | - | 3 | Gain | - |
ALG1L2 | - | - | - | - | 3 | Gain | - |
ALG2 | - | - | - | - | 3 | Gain | - |
ALG3 | - | - | - | - | 3 | Gain | - |
ALKAL1 | - | - | - | - | 5 | Amp | - |
ALKBH4 | - | - | - | - | 3 | Gain | - |
ALKBH5 | - | - | - | - | 1 | Loss | - |
ALKBH7 | - | - | - | - | 1 | Loss | - |
ALMS1 | p.E1909K | Missense | SNP | 0.481 | 2 | - | - |
ALOX12 | - | - | - | - | 1 | Loss | - |
ALOX12B | - | - | - | - | 1 | Loss | - |
ALOX15 | - | - | - | - | 1 | Loss | - |
ALOX15B | - | - | - | - | 1 | Loss | - |
ALOXE3 | p.D212N | Missense | SNP | 0.250 | 1 | Loss | - |
ALPK3 | p.G711E | Missense | SNP | 0.307 | 2 | - | - |
ALS2CL | - | - | - | - | 1 | Loss | - |
AMBP | - | - | - | - | 3 | Gain | - |
AMBRA1 | p.P1195S | Missense | SNP | 0.449 | 2 | - | - |
AMER3 | p.P657F p.K684T | Missense Missense | MNP SNP | 0.375 0.542 | 2 | - | - |
AMH | - | - | - | - | 1 | Loss | - |
AMIGO3 | - | - | - | - | 1 | Loss | - |
AMOT | p.S563F | Missense | SNP | 1.000 | ND | ND | - |
AMOTL1 | p.Q337* | Nonsense | SNP | 0.452 | 2 | - | - |
AMOTL2 | - | - | - | - | 3 | Gain | - |
AMPD2 | p.P148L | Missense | SNP | 0.530 | 2 | - | - |
AMPH | p.E558K p.M267I p.G239R | Missense Missense Missense | SNP SNP SNP | 0.545 0.482 0.538 | 3 | Gain | - |
AMT | - | - | - | - | 1 | Loss | - |
AMY1A | - | - | - | - | 1 | Loss | - |
AMY1B | - | - | - | - | 1 | Loss | - |
AMY1C | - | - | - | - | 1 | Loss | - |
AMY2A | - | - | - | - | 1 | Loss | - |
AMY2B | - | - | - | - | 1 | Loss | - |
AMZ1 | p.W340* | Nonsense | SNP | 0.459 | 3 | Gain | - |
ANAPC13 | - | - | - | - | 3 | Gain | - |
ANAPC2 | - | - | - | - | 3 | Gain | - |
ANGPT1 | - | - | - | - | 5 | Amp | - |
ANGPTL2 | - | - | - | - | 3 | Gain | - |
ANK1 | p.D1858N | Missense | SNP | 0.315 | 2 | - | - |
ANK3 | p.P4196L p.P2631L | Missense Missense | SNP SNP | 0.444 0.546 | 2 | - | - |
ANKFN1 | p.E1053A | Missense | SNP | 0.210 | 2 | - | - |
ANKFY1 | - | - | - | - | 1 | Loss | - |
ANKHD1 | - | - | - | - | 1 | Loss | - |
ANKHD1-EIF4EBP3 | - | - | - | - | 1 | Loss | - |
ANKIB1 | - | - | - | - | 3 | Gain | - |
ANKMY2 | p.P409F | Missense | MNP | 0.488 | 3 | Gain | - |
ANKRA2 | p.G226S | Missense | SNP | 0.436 | 2 | - | - |
ANKRD11 | p.S1967F | Missense | SNP | 0.314 | 2 | - | - |
ANKRD12 | p.P349F | Missense | MNP | 0.186 | 2 | - | - |
ANKRD18A | p.G318E | Missense | SNP | 1.000 | 1 | Loss | - |
ANKRD18B | - | - | - | - | 1 | Loss | - |
ANKRD24 | - | - | - | - | 1 | Loss | - |
ANKRD26 | p.E1376K | Missense | SNP | 0.236 | 2 | - | - |
ANKRD28 | - | - | - | - | 1 | Loss | - |
ANKRD30A | p.E1332K | Missense | SNP | 0.537 | 2 | - | - |
ANKRD34C | p.S289F | Missense | SNP | 0.487 | 2 | - | - |
ANKRD35 | p.V874M | Missense | SNP | 0.373 | 2 | - | - |
ANKRD36B | - | - | - | - | 1 | Loss | - |
ANKRD37 | - | - | - | - | 1 | Loss | - |
ANKRD46 | - | - | - | - | 5 | Amp | - |
ANKRD6 | - | - | - | - | 1 | Loss | - |
ANKRD61 | - | - | - | - | 3 | Gain | - |
ANKRD65 | p.G280R | Missense | SNP | 0.468 | 2 | - | - |
ANKRD7 | - | - | - | - | 3 | Gain | - |
ANKS1B | p.P1202L | Missense | SNP | 0.570 | 2 | - | - |
ANKS6 | - | - | - | - | 3 | Gain | - |
ANKUB1 | - | - | - | - | 3 | Gain | - |
ANLN | p.P963L | Missense | SNP | 0.484 | 3 | Gain | - |
ANO10 | - | - | - | - | 1 | Loss | - |
ANO2 | p.S180F | Missense | SNP | 0.538 | 2 | - | - |
ANO3 | p.G814E | Missense | SNP | 0.418 | 2 | - | - |
ANO7 | p.D31N | Missense | SNP | 0.413 | 2 | - | - |
ANP32B | - | - | - | - | 3 | Gain | - |
ANXA1 | - | - | - | - | 3 | Gain | - |
ANXA13 | p.G102D | Missense | SNP | 0.247 | 5 | Amp | - |
ANXA6 | - | - | - | - | 1 | Loss | - |
ANXA7 | p.P121S | Missense | SNP | 0.590 | 2 | - | - |
AOAH | - | - | - | - | 3 | Gain | - |
AOC1 | - | - | - | - | 3 | Gain | - |
AP000349.2 | p.W115* | Nonsense | SNP | 0.513 | ND | ND | - |
AP1S1 | - | - | - | - | 3 | Gain | - |
AP1S2 | p.T79I | Missense | SNP | 1.000 | ND | ND | - |
AP2A1 | - | - | - | - | 1 | Loss | - |
AP2M1 | - | - | - | - | 3 | Gain | - |
AP2S1 | - | - | - | - | 1 | Loss | - |
AP3B2 | p.P905L p.S662F | Missense Missense | SNP SNP | 0.450 0.507 | 2 | - | - |
AP3D1 | - | - | - | - | 1 | Loss | - |
AP3S1 | - | - | - | - | 1 | Loss | - |
AP4M1 | - | - | - | - | 3 | Gain | - |
AP5Z1 | - | - | - | - | 3 | Gain | - |
APBA1 | - | - | - | - | 3 | Gain | - |
APBA3 | - | - | - | - | 1 | Loss | - |
APBB1 | p.S631F | Missense | SNP | 0.562 | 2 | - | - |
APBB3 | - | - | - | - | 1 | Loss | - |
APC2 | p.G1807E | Missense | SNP | 0.436 | 1 | Loss | - |
APEH | - | - | - | - | 1 | Loss | - |
APOA1 | p.G15R | Missense | SNP | 0.465 | 2 | - | - |
APOB | p.S4244F | Missense | SNP | 0.423 | 2 | - | - |
APOC1 | - | - | - | - | 1 | Loss | - |
APOC2 | - | - | - | - | 1 | Loss | - |
APOC4-APOC2 | - | - | - | - | 1 | Loss | - |
APOD | - | - | - | - | 3 | Gain | - |
APOE | - | - | - | - | 1 | Loss | - |
APOL2 | p.P86L | Missense | SNP | 0.458 | 2 | - | - |
APPL1 | - | - | - | - | 1 | Loss | - |
APTX | - | - | - | - | 1 | Loss | - |
AQP1 | - | - | - | - | 3 | Gain | - |
AQP3 | - | - | - | - | 1 | Loss | - |
AQP4 | p.L160F | Missense | SNP | 0.495 | 2 | - | - |
AQP7 | - | - | - | - | 1 | Loss | - |
ARAP3 | p.A777T | Missense | SNP | 0.357 | 1 | Loss | - |
ARC | - | - | - | - | 6 | Amp | - |
ARF4 | - | - | - | - | 1 | Loss | - |
ARF5 | - | - | - | - | 3 | Gain | - |
ARFGAP1 | p.F111S | Missense | SNP | 0.378 | 2 | - | - |
ARFGEF1 | p.G1078R p.E145K | Missense Missense | SNP SNP | 0.681 0.223 | 5 | Amp | - |
ARGFX | - | - | - | - | 3 | Gain | - |
ARHGAP18 | p.P652L p.L551S | Missense Missense | SNP SNP | 0.541 0.667 | 2 | - | - |
ARHGAP26 | p.R120Q | Missense | SNP | 0.333 | 1 | Loss | - |
ARHGAP27 | p.G379N | Missense | MNP | 0.330 | 2 | - | - |
ARHGAP31 | p.G568E | Missense | SNP | 0.676 | 3 | Gain | - |
ARHGAP35 | - | - | - | - | 1 | Loss | - |
ARHGAP39 | - | - | - | - | 6 | Amp | - |
ARHGAP44 | - | - | - | - | 1 | Loss | - |
ARHGAP45 | - | - | - | - | 1 | Loss | - |
ARHGEF1 | p.S374F | Missense | SNP | 0.535 | 2 | - | - |
ARHGEF10 | p.P550L | Missense | SNP | 0.389 | 2 | - | - |
ARHGEF10L | p.P1262S | Missense | SNP | 0.494 | 2 | - | - |
ARHGEF15 | - | - | - | - | 1 | Loss | - |
ARHGEF16 | p.A79T | Missense | SNP | 0.510 | 2 | - | - |
ARHGEF18 | - | - | - | - | 1 | Loss | - |
ARHGEF19 | p.S340F | Missense | SNP | 0.561 | 2 | - | - |
ARHGEF26 | - | - | - | - | 3 | Gain | - |
ARHGEF28 | p.S179F | Missense | SNP | 0.542 | 2 | - | - |
ARHGEF3 | - | - | - | - | 1 | Loss | - |
ARHGEF33 | p.E711K | Missense | SNP | 0.573 | 2 | - | - |
ARHGEF37 | - | - | - | - | 1 | Loss | - |
ARHGEF39 | - | - | - | - | 1 | Loss | - |
ARHGEF5 | - | - | - | - | 3 | Gain | - |
ARID1A | p.G324S p.P1147S | Missense Missense | SNP SNP | 0.531 0.494 | 2 | - | - |
ARID3A | - | - | - | - | 1 | Loss | - |
ARID3C | - | - | - | - | 1 | Loss | - |
ARID5B | p.P557S | Missense | SNP | 0.450 | 2 | - | - |
ARIH2 | - | - | - | - | 1 | Loss | - |
ARIH2OS | - | - | - | - | 1 | Loss | - |
ARL10 | - | - | - | - | 1 | Loss | - |
ARL13B | - | - | - | - | 3 | Gain | - |
ARL14 | - | - | - | - | 3 | Gain | - |
ARL14EPL | - | - | - | - | 1 | Loss | - |
ARL4A | - | - | - | - | 3 | Gain | - |
ARL6 | - | - | - | - | 3 | Gain | - |
ARL6IP5 | - | - | - | - | 1 | Loss | - |
ARL8B | - | - | - | - | 1 | Loss | - |
ARMC1 | - | - | - | - | 5 | Amp | - |
ARMC10 | - | - | - | - | 3 | Gain | - |
ARMC6 | - | - | - | - | 1 | Loss | - |
ARMC8 | - | - | - | - | 3 | Gain | - |
ARMC9 | p.P737L | Missense | SNP | 0.486 | 2 | - | - |
ARPC1A | - | - | - | - | 3 | Gain | - |
ARPC1B | - | - | - | - | 3 | Gain | - |
ARPC4 | - | - | - | - | 1 | Loss | - |
ARPC4-TTLL3 | - | - | - | - | 1 | Loss | - |
ARPC5L | - | - | - | - | 3 | Gain | - |
ARPP21 | - | - | - | - | 1 | Loss | - |
ARRB1 | p.X161_splice | Splice_Site | SNP | 0.545 | 2 | - | - |
ARRB2 | - | - | - | - | 1 | Loss | - |
ARRDC1 | - | - | - | - | 3 | Gain | - |
ARRDC5 | - | - | - | - | 1 | Loss | - |
ARSI | - | - | - | - | 1 | Loss | - |
ARVCF | p.R638Q | Missense | SNP | 0.500 | 2 | - | - |
ASAH1 | p.*412Lext*11 | Nonstop | SNP | 0.500 | 2 | - | - |
ASAP1 | - | - | - | - | 5 | Amp | - |
ASAP2 | p.P849L | Missense | SNP | 0.525 | 2 | - | - |
ASB10 | - | - | - | - | 3 | Gain | - |
ASB14 | - | - | - | - | 1 | Loss | - |
ASB15 | - | - | - | - | 3 | Gain | - |
ASB2 | p.P622S p.E137K | Missense Missense | SNP SNP | 0.488 0.473 | 2 | - | - |
ASB3 | p.T270I | Missense | SNP | 0.466 | 2 | - | - |
ASB4 | - | - | - | - | 3 | Gain | - |
ASB5 | - | - | - | - | 1 | Loss | - |
ASB6 | - | - | - | - | 3 | Gain | - |
ASCC2 | p.S144F | Missense | SNP | 0.429 | 2 | - | - |
ASCC3 | p.P1656S | Missense | SNP | 0.485 | 2 | - | - |
ASGR1 | - | - | - | - | 1 | Loss | - |
ASGR2 | - | - | - | - | 1 | Loss | - |
ASH2L | p.P624L | Missense | SNP | 0.644 | 2 | - | - |
ASIC3 | - | - | - | - | 3 | Gain | - |
ASL | - | - | - | - | 3 | Gain | - |
ASNS | p.V360G | Missense | SNP | 0.609 | 3 | Gain | - |
ASPA | - | - | - | - | 1 | Loss | - |
ASPDH | - | - | - | - | 1 | Loss | - |
ASPH | p.P756S p.S626R | Missense Missense | SNP SNP | 0.686 0.293 | 5 | Amp | - |
ASPM | p.R2118K | Missense | SNP | 0.567 | 2 | - | - |
ASPN | p.G219R | Missense | SNP | 0.632 | 3 | Gain | - |
ASS1 | p.Q125* | Nonsense | SNP | 0.988 | 3 | Gain | - |
ASTE1 | - | - | - | - | 3 | Gain | - |
ASTN2 | p.R602C | Missense | SNP | 0.673 | 3 | Gain | - |
ASXL2 | p.P900Lfs*34 p.K124Rfs*43 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.542 0.460 | 2 | - | - |
ASXL3 | p.S756F | Missense | SNP | 0.470 | 2 | - | - |
ASZ1 | - | - | - | - | 3 | Gain | - |
ATAD2 | p.S969L p.R847C | Missense Missense | SNP SNP | 0.257 0.261 | 5 | Amp | - |
ATCAY | - | - | - | - | 1 | Loss | - |
ATE1 | p.R212W | Missense | SNP | 0.434 | 2 | - | - |
ATF5 | - | - | - | - | 1 | Loss | - |
ATG12 | - | - | - | - | 1 | Loss | - |
ATG3 | - | - | - | - | 3 | Gain | - |
ATG7 | - | - | - | - | 1 | Loss | - |
ATG9B | - | - | - | - | 3 | Gain | - |
ATMIN | p.P128L | Missense | MNP | 0.513 | 2 | - | - |
ATOX1 | - | - | - | - | 1 | Loss | - |
ATP10B | - | - | - | - | 1 | Loss | - |
ATP11B | - | - | - | - | 3 | Gain | - |
ATP13A1 | - | - | - | - | 1 | Loss | - |
ATP13A3 | p.P298S | Missense | SNP | 0.288 | 3 | Gain | - |
ATP13A4 | - | - | - | - | 3 | Gain | - |
ATP13A5 | - | - | - | - | 3 | Gain | - |
ATP1A2 | p.E317K | Missense | SNP | 0.348 | 2 | - | - |
ATP1B2 | - | - | - | - | 1 | Loss | - |
ATP1B3 | - | - | - | - | 3 | Gain | - |
ATP2A1 | p.S261F | Missense | SNP | 0.396 | 2 | - | - |
ATP2A3 | - | - | - | - | 1 | Loss | - |
ATP2B2 | - | - | - | - | 1 | Loss | - |
ATP2C1 | - | - | - | - | 3 | Gain | - |
ATP5F1D | - | - | - | - | 1 | Loss | - |
ATP5MF | - | - | - | - | 3 | Gain | - |
ATP5MF-PTCD1 | - | - | - | - | 3 | Gain | - |
ATP6V0A4 | - | - | - | - | 3 | Gain | - |
ATP6V0D2 | - | - | - | - | 5 | Amp | - |
ATP6V0E1 | - | - | - | - | 1 | Loss | - |
ATP6V0E2 | - | - | - | - | 3 | Gain | - |
ATP6V1A | - | - | - | - | 3 | Gain | - |
ATP6V1C1 | - | - | - | - | 5 | Amp | - |
ATP6V1F | - | - | - | - | 3 | Gain | - |
ATP6V1FNB | - | - | - | - | 3 | Gain | - |
ATP6V1G1 | - | - | - | - | 3 | Gain | - |
ATP6V1H | - | - | - | - | 5 | Amp | - |
ATP8B3 | - | - | - | - | 1 | Loss | - |
ATP8B4 | p.R444K | Missense | SNP | 0.551 | 2 | - | - |
ATPAF2 | - | - | - | - | 1 | Loss | - |
ATR | - | - | - | - | 3 | Gain | - |
ATRIP | - | - | - | - | 1 | Loss | - |
ATRNL1 | p.R978L | Missense | SNP | 0.426 | 2 | - | - |
ATXN3L | p.G103D | Missense | SNP | 0.995 | ND | ND | - |
ATXN7 | - | - | - | - | 1 | Loss | - |
ATXN7L1 | - | - | - | - | 3 | Gain | - |
AUH | - | - | - | - | 3 | Gain | - |
AUP1 | - | - | - | - | 1 | Loss | - |
AURKB | - | - | - | - | 1 | Loss | - |
AURKC | - | - | - | - | 1 | Loss | - |
AUTS2 | p.P890F | Missense | MNP | 0.479 | 3 | Gain | - |
AVL9 | - | - | - | - | 3 | Gain | - |
AVPR1A | p.R288H | Missense | SNP | 0.602 | 2 | - | - |
AVPR1B | p.R265W | Missense | SNP | 0.385 | 2 | - | - |
AXDND1 | p.E634K | Missense | SNP | 0.471 | 2 | - | - |
AZGP1 | - | - | - | - | 3 | Gain | - |
AZI2 | - | - | - | - | 1 | Loss | - |
AZIN1 | - | - | - | - | 5 | Amp | - |
AZU1 | - | - | - | - | 1 | Loss | - |
B3GALNT1 | - | - | - | - | 3 | Gain | - |
B3GAT3 | p.P119S | Missense | SNP | 0.484 | 2 | - | - |
B3GNT5 | - | - | - | - | 3 | Gain | - |
B4GALT1 | - | - | - | - | 1 | Loss | - |
B4GALT4 | - | - | - | - | 3 | Gain | - |
B4GALT6 | p.E343K | Missense | SNP | 0.541 | 2 | - | - |
B4GALT7 | - | - | - | - | 1 | Loss | - |
B9D1 | p.E154K | Missense | SNP | 0.348 | 1 | Loss | - |
BAALC | p.G59R | Missense | SNP | 0.230 | 5 | Amp | - |
BAAT | - | - | - | - | 3 | Gain | - |
BACH2 | - | - | - | - | 1 | Loss | - |
BAG1 | - | - | - | - | 1 | Loss | - |
BAHCC1 | p.P484S p.P820S | Missense Missense | SNP SNP | 0.233 0.746 | 2 | - | - |
BAHD1 | p.P397L | Missense | SNP | 0.530 | 2 | - | - |
BAIAP2L1 | - | - | - | - | 3 | Gain | - |
BAP1 | - | - | - | - | 1 | Loss | - |
BARHL1 | - | - | - | - | 3 | Gain | - |
BARHL2 | p.G214E | Missense | SNP | 0.478 | 2 | - | - |
BARX1 | - | - | - | - | 3 | Gain | - |
BAX | - | - | - | - | 1 | Loss | - |
BAZ1A | p.G277R | Missense | SNP | 0.629 | 2 | - | - |
BAZ1B | - | - | - | - | 3 | Gain | - |
BBC3 | - | - | - | - | 1 | Loss | - |
BBS4 | p.P30S | Missense | SNP | 0.434 | 2 | - | - |
BBS9 | - | - | - | - | 3 | Gain | - |
BBX | - | - | - | - | 3 | Gain | - |
BCAM | - | - | - | - | 1 | Loss | - |
BCAN | p.S302I | Missense | SNP | 0.444 | 2 | - | - |
BCAP29 | - | - | - | - | 3 | Gain | - |
BCAT2 | p.S205F | Missense | SNP | 0.547 | 1 | Loss | - |
BCHE | - | - | - | - | 3 | Gain | - |
BCL2L12 | - | - | - | - | 1 | Loss | - |
BCL3 | - | - | - | - | 1 | Loss | - |
BCL6 | - | - | - | - | 3 | Gain | - |
BCL6B | - | - | - | - | 1 | Loss | - |
BCL7B | - | - | - | - | 3 | Gain | - |
BCO2 | p.D188E | Missense | SNP | 0.480 | 2 | - | - |
BDH1 | - | - | - | - | 3 | Gain | - |
BET1 | - | - | - | - | 3 | Gain | - |
BFSP2 | - | - | - | - | 3 | Gain | - |
BHLHA15 | - | - | - | - | 3 | Gain | - |
BHLHA9 | - | - | - | - | 1 | Loss | - |
BHLHE22 | - | - | - | - | 5 | Amp | - |
BHLHE40 | - | - | - | - | 1 | Loss | - |
BHMG1 | - | - | - | - | 1 | Loss | - |
BICD2 | - | - | - | - | 3 | Gain | - |
BICRA | - | - | - | - | 1 | Loss | - |
BIRC6 | p.G3167S;p.X3167_splice | Splice_Site | MNP | 0.476 | 2 | - | - |
BIRC8 | - | - | - | - | 1 | Loss | - |
BLM | p.G950V | Missense | SNP | 0.470 | 2 | - | - |
BLMH | p.E214* | Nonsense | SNP | 0.256 | 2 | - | - |
BLOC1S3 | - | - | - | - | 1 | Loss | - |
BLVRA | - | - | - | - | 3 | Gain | - |
BMP3 | p.G261E | Missense | SNP | 0.261 | 2 | - | - |
BMPER | - | - | - | - | 3 | Gain | - |
BMT2 | - | - | - | - | 3 | Gain | - |
BNC2 | - | - | - | - | 1 | Loss | - |
BNIP1 | p.S199R | Missense | SNP | 0.329 | 1 | Loss | - |
BOC | - | - | - | - | 3 | Gain | - |
BOD1 | - | - | - | - | 1 | Loss | - |
BOLA3 | - | - | - | - | 1 | Loss | - |
BOP1 | - | - | - | - | 3 | Gain | - |
BORCS6 | - | - | - | - | 1 | Loss | - |
BORCS8 | - | - | - | - | 1 | Loss | - |
BORCS8-MEF2B | - | - | - | - | 1 | Loss | - |
BPGM | - | - | - | - | 3 | Gain | - |
BPIFC | p.S276F | Missense | SNP | 0.465 | 2 | - | - |
BRAF | - | - | - | - | 3 | Gain | - |
BRAT1 | - | - | - | - | 3 | Gain | - |
BRD3 | - | - | - | - | 3 | Gain | - |
BRD8 | - | - | - | - | 1 | Loss | - |
BRI3 | - | - | - | - | 3 | Gain | - |
BRINP1 | p.R705C | Missense | SNP | 0.365 | 3 | Gain | - |
BRINP3 | p.S320* | Nonsense | SNP | 0.512 | 2 | - | - |
BRK1 | - | - | - | - | 1 | Loss | - |
BRPF1 | - | - | - | - | 1 | Loss | - |
BSG | - | - | - | - | 1 | Loss | - |
BSN | - | - | - | - | 1 | Loss | - |
BSPH1 | p.W128* | Nonsense | SNP | 0.539 | 1 | Loss | - |
BSPRY | - | - | - | - | 3 | Gain | - |
BTBD2 | - | - | - | - | 1 | Loss | - |
BTD | - | - | - | - | 1 | Loss | - |
BTLA | - | - | - | - | 3 | Gain | - |
BTN3A2 | p.Q318* | Nonsense | SNP | 1.000 | 2 | - | - |
BTNL3 | - | - | - | - | 1 | Loss | - |
BTNL8 | - | - | - | - | 1 | Loss | - |
BTNL9 | - | - | - | - | 1 | Loss | - |
BUD13 | p.A611V | Missense | SNP | 0.552 | 2 | - | - |
BUD23 | - | - | - | - | 3 | Gain | - |
BUD31 | - | - | - | - | 3 | Gain | - |
BZW2 | - | - | - | - | 3 | Gain | - |
C10orf11 | p.K124R | Missense | SNP | 0.404 | ND | ND | - |
C10orf2 | p.T58I | Missense | SNP | 0.489 | ND | ND | - |
C10orf54 | p.P255L | Missense | SNP | 0.472 | ND | ND | - |
C10orf67 | p.H452Y | Missense | SNP | 0.438 | 2 | - | - |
C11orf40 | p.E37D | Missense | SNP | 0.623 | 2 | - | - |
C12orf42 | p.P206S | Missense | SNP | 0.203 | 2 | - | - |
C12orf74 | p.D94N | Missense | SNP | 0.192 | ND | ND | - |
C14orf177 | p.R110* | Nonsense | SNP | 0.472 | 2 | - | - |
C14orf93 | p.N318K | Missense | SNP | 0.498 | 2 | - | - |
C16orf46 | p.G201C | Missense | SNP | 0.402 | 2 | - | - |
C17orf100 | - | - | - | - | 1 | Loss | - |
C17orf105 | p.W98* | Nonsense | SNP | 0.251 | ND | ND | - |
C17orf107 | - | - | - | - | 1 | Loss | - |
C17orf49 | - | - | - | - | 1 | Loss | - |
C17orf97 | - | - | - | - | 1 | Loss | - |
C19orf18 | p.E172K | Missense | SNP | 0.660 | 1 | Loss | - |
C19orf24 | - | - | - | - | 1 | Loss | - |
C19orf25 | - | - | - | - | 1 | Loss | - |
C19orf44 | p.L40F | Missense | SNP | 0.505 | 2 | - | - |
C19orf48 | - | - | - | - | 1 | Loss | - |
C19orf54 | p.T269M | Missense | SNP | 0.599 | 2 | - | - |
C19orf66 | p.P104S | Missense | SNP | 0.557 | 2 | - | - |
C19orf70 | - | - | - | - | 1 | Loss | - |
C19orf71 | - | - | - | - | 1 | Loss | - |
C19orf73 | - | - | - | - | 1 | Loss | - |
C19orf81 | - | - | - | - | 1 | Loss | - |
C19orf84 | - | - | - | - | 1 | Loss | - |
C1GALT1 | - | - | - | - | 3 | Gain | - |
C1GALT1C1 | p.G211E | Missense | SNP | 1.000 | ND | ND | - |
C1orf100 | - | - | - | - | 3 | Gain | - |
C1orf127 | p.P463F | Missense | MNP | 0.477 | 2 | - | - |
C1orf185 | p.Q45K | Missense | SNP | 0.171 | 2 | - | - |
C1orf216 | p.P139H | Missense | SNP | 0.576 | 2 | - | - |
C1QBP | - | - | - | - | 1 | Loss | - |
C1QTNF1 | p.Q31* | Nonsense | SNP | 0.262 | 2 | - | - |
C1QTNF9B | p.G80E | Missense | SNP | 0.341 | 2 | - | - |
C20orf194 | p.E984Q | Missense | SNP | 0.150 | 2 | - | - |
C21orf2 | p.H250R | Missense | SNP | 0.485 | ND | ND | - |
C2CD4C | - | - | - | - | 1 | Loss | - |
C2orf16 | p.E1157K | Missense | SNP | 0.538 | 2 | - | - |
C2orf50 | p.E74K | Missense | SNP | 0.486 | 2 | - | - |
C2orf71 | p.P1206L p.W1001* p.V581I | Missense Nonsense Missense | SNP SNP SNP | 0.456 0.469 0.541 | ND | ND | - |
C2orf78 | - | - | - | - | 1 | Loss | - |
C2orf81 | - | - | - | - | 1 | Loss | - |
C3 | p.R1320Q | Missense | SNP | 0.750 | 1 | Loss | - |
C3orf14 | - | - | - | - | 1 | Loss | - |
C3orf18 | - | - | - | - | 1 | Loss | - |
C3orf20 | - | - | - | - | 1 | Loss | - |
C3orf22 | - | - | - | - | 3 | Gain | - |
C3orf30 | - | - | - | - | 3 | Gain | - |
C3orf33 | - | - | - | - | 3 | Gain | - |
C3orf36 | p.A45P | Missense | SNP | 0.295 | ND | ND | - |
C3orf38 | - | - | - | - | 1 | Loss | - |
C3orf49 | - | - | - | - | 1 | Loss | - |
C3orf52 | - | - | - | - | 3 | Gain | - |
C3orf56 | - | - | - | - | 3 | Gain | - |
C3orf58 | - | - | - | - | 3 | Gain | - |
C3orf62 | - | - | - | - | 1 | Loss | - |
C3orf67 | - | - | - | - | 1 | Loss | - |
C3orf70 | - | - | - | - | 3 | Gain | - |
C3orf80 | - | - | - | - | 3 | Gain | - |
C3orf84 | - | - | - | - | 1 | Loss | - |
C3orf85 | - | - | - | - | 3 | Gain | - |
C4orf17 | p.P258Y | Missense | MNP | 0.700 | 2 | - | - |
C4orf47 | - | - | - | - | 1 | Loss | - |
C5 | - | - | - | - | 3 | Gain | - |
C5AR1 | p.I111L | Missense | SNP | 0.563 | 1 | Loss | - |
C5AR2 | - | - | - | - | 1 | Loss | - |
C5orf15 | - | - | - | - | 1 | Loss | - |
C5orf24 | - | - | - | - | 1 | Loss | - |
C5orf42 | p.P2571L | Missense | SNP | 0.560 | ND | ND | - |
C5orf46 | - | - | - | - | 1 | Loss | - |
C5orf47 | - | - | - | - | 1 | Loss | - |
C5orf51 | p.L37I | Missense | SNP | 0.606 | 2 | - | - |
C5orf52 | - | - | - | - | 1 | Loss | - |
C5orf58 | - | - | - | - | 1 | Loss | - |
C5orf60 | - | - | - | - | 1 | Loss | - |
C5orf63 | - | - | - | - | 1 | Loss | - |
C6orf118 | p.G88K | Missense | MNP | 0.586 | 2 | - | - |
C7orf25 | - | - | - | - | 3 | Gain | - |
C7orf26 | - | - | - | - | 3 | Gain | - |
C7orf31 | - | - | - | - | 3 | Gain | - |
C7orf33 | - | - | - | - | 3 | Gain | - |
C7orf43 | - | - | - | - | 3 | Gain | - |
C7orf50 | - | - | - | - | 3 | Gain | - |
C7orf55-LUC7L2 | - | - | - | - | 3 | Gain | - |
C7orf57 | - | - | - | - | 3 | Gain | - |
C7orf61 | - | - | - | - | 3 | Gain | - |
C7orf77 | - | - | - | - | 3 | Gain | - |
C8G | - | - | - | - | 3 | Gain | - |
C8orf33 | - | - | - | - | 6 | Amp | - |
C8orf34 | p.E256K | Missense | SNP | 0.270 | 5 | Amp | - |
C8orf37 | - | - | - | - | 5 | Amp | - |
C8orf44 | - | - | - | - | 5 | Amp | - |
C8orf59 | - | - | - | - | 5 | Amp | - |
C8orf76 | - | - | - | - | 5 | Amp | - |
C8orf82 | - | - | - | - | 6 | Amp | - |
C8orf88 | - | - | - | - | 5 | Amp | - |
C8orf89 | - | - | - | - | 5 | Amp | - |
C9orf116 | - | - | - | - | 3 | Gain | - |
C9orf129 | - | - | - | - | 3 | Gain | - |
C9orf131 | - | - | - | - | 1 | Loss | - |
C9orf135 | - | - | - | - | 3 | Gain | - |
C9orf152 | - | - | - | - | 3 | Gain | - |
C9orf153 | - | - | - | - | 3 | Gain | - |
C9orf16 | - | - | - | - | 3 | Gain | - |
C9orf24 | - | - | - | - | 1 | Loss | - |
C9orf3 | - | - | - | - | 3 | Gain | - |
C9orf40 | - | - | - | - | 3 | Gain | - |
C9orf43 | - | - | - | - | 3 | Gain | - |
C9orf50 | - | - | - | - | 3 | Gain | - |
C9orf57 | - | - | - | - | 3 | Gain | - |
C9orf64 | - | - | - | - | 3 | Gain | - |
C9orf66 | - | - | - | - | 1 | Loss | - |
C9orf72 | - | - | - | - | 1 | Loss | - |
C9orf78 | - | - | - | - | 3 | Gain | - |
C9orf84 | - | - | - | - | 3 | Gain | - |
C9orf85 | - | - | - | - | 3 | Gain | - |
C9orf92 | - | - | - | - | 1 | Loss | - |
CA1 | - | - | - | - | 5 | Amp | - |
CA11 | - | - | - | - | 1 | Loss | - |
CA13 | - | - | - | - | 5 | Amp | - |
CA2 | - | - | - | - | 5 | Amp | - |
CA3 | - | - | - | - | 5 | Amp | - |
CA5A | p.P214S | Missense | SNP | 0.273 | 2 | - | - |
CA8 | - | - | - | - | 5 | Amp | - |
CA9 | - | - | - | - | 1 | Loss | - |
CAAP1 | - | - | - | - | 1 | Loss | - |
CABP5 | - | - | - | - | 1 | Loss | - |
CACFD1 | - | - | - | - | 3 | Gain | - |
CACHD1 | p.D412N | Missense | SNP | 0.551 | 2 | - | - |
CACNA1A | p.W1757* p.M1251I | Nonsense Missense | SNP SNP | 0.488 0.477 | 2 | - | - |
CACNA1B | - | - | - | - | 3 | Gain | - |
CACNA1D | - | - | - | - | 1 | Loss | - |
CACNA1G | p.P668L | Missense | SNP | 0.251 | 2 | - | - |
CACNA1H | p.G1173S | Missense | SNP | 0.537 | 2 | - | - |
CACNA1S | p.S891F | Missense | SNP | 0.386 | 2 | - | - |
CACNA2D1 | - | - | - | - | 3 | Gain | - |
CACNA2D2 | - | - | - | - | 1 | Loss | - |
CACNA2D3 | p.E325K | Missense | SNP | 0.298 | 1 | Loss | - |
CACNG6 | - | - | - | - | 1 | Loss | - |
CACNG7 | - | - | - | - | 1 | Loss | - |
CACNG8 | - | - | - | - | 1 | Loss | - |
CACTIN | - | - | - | - | 1 | Loss | - |
CAD | p.R191* | Nonsense | SNP | 0.497 | 2 | - | - |
CADM2 | - | - | - | - | 1 | Loss | - |
CADPS | - | - | - | - | 1 | Loss | - |
CADPS2 | - | - | - | - | 3 | Gain | - |
CALB1 | - | - | - | - | 5 | Amp | - |
CALCR | - | - | - | - | 3 | Gain | - |
CALD1 | - | - | - | - | 3 | Gain | - |
CALHM1 | p.A51T | Missense | SNP | 0.500 | 2 | - | - |
CALM3 | - | - | - | - | 1 | Loss | - |
CALN1 | - | - | - | - | 3 | Gain | - |
CALU | - | - | - | - | 3 | Gain | - |
CAMK1 | - | - | - | - | 1 | Loss | - |
CAMK1G | p.N394I | Missense | SNP | 0.455 | 2 | - | - |
CAMK2A | - | - | - | - | 1 | Loss | - |
CAMK2B | p.L478P p.G23R | Missense Missense | SNP SNP | 0.452 0.400 | 3 | Gain | - |
CAMK2N2 | - | - | - | - | 3 | Gain | - |
CAMKK1 | p.S74F | Missense | SNP | 0.721 | 1 | Loss | - |
CAMKV | - | - | - | - | 1 | Loss | - |
CAMLG | - | - | - | - | 1 | Loss | - |
CAMP | - | - | - | - | 1 | Loss | - |
CAMSAP1 | - | - | - | - | 3 | Gain | - |
CAMSAP2 | p.L799F | Missense | SNP | 0.552 | 2 | - | - |
CAMSAP3 | - | - | - | - | 1 | Loss | - |
CAMTA2 | - | - | - | - | 1 | Loss | - |
CAND2 | p.H201_S207delinsR p.P554S | In_Frame_Del Missense | DEL SNP | 0.586 0.641 | 1 | Loss | - |
CANX | - | - | - | - | 1 | Loss | - |
CAPN3 | p.T417M | Missense | SNP | 0.197 | 2 | - | - |
CAPN7 | - | - | - | - | 1 | Loss | - |
CAPS | - | - | - | - | 1 | Loss | - |
CAPZA2 | - | - | - | - | 3 | Gain | - |
CARD11 | - | - | - | - | 3 | Gain | - |
CARD19 | - | - | - | - | 3 | Gain | - |
CARD8 | - | - | - | - | 1 | Loss | - |
CARD9 | - | - | - | - | 3 | Gain | - |
CARM1 | p.H274Y | Missense | SNP | 0.562 | 2 | - | - |
CARMIL3 | p.R337* | Nonsense | SNP | 0.485 | 2 | - | - |
CARNMT1 | - | - | - | - | 3 | Gain | - |
CASD1 | - | - | - | - | 3 | Gain | - |
CASK | p.L328* | Nonsense | SNP | 1.000 | ND | ND | - |
CASP2 | - | - | - | - | 3 | Gain | - |
CASP3 | - | - | - | - | 1 | Loss | - |
CASP8 | p.F124C | Missense | SNP | 0.604 | 2 | - | - |
CASP8AP2 | - | - | - | - | 1 | Loss | - |
CASR | - | - | - | - | 3 | Gain | - |
CASTOR2 | - | - | - | - | 3 | Gain | - |
CASTOR3 | - | - | - | - | 3 | Gain | - |
CATSPER3 | - | - | - | - | 1 | Loss | - |
CATSPERD | - | - | - | - | 1 | Loss | - |
CATSPERE | - | - | - | - | 3 | Gain | - |
CATSPERG | p.P477L | Missense | SNP | 0.506 | 2 | - | - |
CAV1 | - | - | - | - | 3 | Gain | - |
CAV2 | - | - | - | - | 3 | Gain | - |
CAV3 | p.D40N | Missense | SNP | 0.268 | 1 | Loss | - |
CAVIN4 | - | - | - | - | 3 | Gain | - |
CBARP | - | - | - | - | 1 | Loss | - |
CBLB | - | - | - | - | 3 | Gain | - |
CBLC | - | - | - | - | 1 | Loss | - |
CBLL1 | - | - | - | - | 3 | Gain | - |
CBWD1 | - | - | - | - | 1 | Loss | - |
CBWD3 | - | - | - | - | 3 | Gain | - |
CBWD5 | - | - | - | - | 3 | Gain | - |
CBWD6 | - | - | - | - | 3 | Gain | - |
CBX3 | - | - | - | - | 3 | Gain | - |
CBY3 | - | - | - | - | 1 | Loss | - |
CC2D2A | p.E1075K | Missense | SNP | 0.561 | 2 | - | - |
CCDC102B | p.K202E | Missense | SNP | 0.479 | 2 | - | - |
CCDC107 | - | - | - | - | 1 | Loss | - |
CCDC110 | - | - | - | - | 1 | Loss | - |
CCDC112 | - | - | - | - | 1 | Loss | - |
CCDC114 | - | - | - | - | 1 | Loss | - |
CCDC12 | - | - | - | - | 1 | Loss | - |
CCDC126 | - | - | - | - | 3 | Gain | - |
CCDC13 | - | - | - | - | 1 | Loss | - |
CCDC136 | - | - | - | - | 3 | Gain | - |
CCDC14 | - | - | - | - | 3 | Gain | - |
CCDC141 | p.X694_splice | Splice_Site | SNP | 0.515 | 2 | - | - |
CCDC142 | - | - | - | - | 1 | Loss | - |
CCDC144A | - | - | - | - | 1 | Loss | - |
CCDC146 | - | - | - | - | 3 | Gain | - |
CCDC155 | - | - | - | - | 1 | Loss | - |
CCDC166 | p.D186N | Missense | SNP | 0.159 | 6 | Amp | - |
CCDC168 | p.P2781L | Missense | SNP | 0.535 | 2 | - | - |
CCDC171 | - | - | - | - | 1 | Loss | - |
CCDC173 | p.P51S | Missense | SNP | 0.429 | 2 | - | - |
CCDC174 | - | - | - | - | 1 | Loss | - |
CCDC180 | p.R1186K | Missense | SNP | 0.366 | 3 | Gain | - |
CCDC183 | - | - | - | - | 3 | Gain | - |
CCDC191 | p.R203C | Missense | SNP | 0.716 | 3 | Gain | - |
CCDC27 | p.D238N | Missense | SNP | 0.370 | 2 | - | - |
CCDC28A | p.X143_splice | Splice_Site | SNP | 0.654 | 2 | - | - |
CCDC36 | - | - | - | - | 1 | Loss | - |
CCDC39 | p.E791K | Missense | SNP | 0.643 | 3 | Gain | - |
CCDC42 | - | - | - | - | 1 | Loss | - |
CCDC50 | - | - | - | - | 3 | Gain | - |
CCDC51 | - | - | - | - | 1 | Loss | - |
CCDC54 | - | - | - | - | 3 | Gain | - |
CCDC57 | p.E248K | Missense | SNP | 0.734 | 2 | - | - |
CCDC58 | - | - | - | - | 3 | Gain | - |
CCDC61 | - | - | - | - | 1 | Loss | - |
CCDC63 | p.K329R p.P479L p.P501L | Missense Missense Missense | SNP SNP SNP | 0.571 0.640 0.379 | 2 | - | - |
CCDC66 | - | - | - | - | 1 | Loss | - |
CCDC69 | - | - | - | - | 1 | Loss | - |
CCDC71 | p.A283V | Missense | SNP | 0.404 | 1 | Loss | - |
CCDC71L | - | - | - | - | 3 | Gain | - |
CCDC8 | - | - | - | - | 1 | Loss | - |
CCDC80 | - | - | - | - | 3 | Gain | - |
CCDC88A | p.E846K | Missense | SNP | 0.471 | 2 | - | - |
CCDC88B | p.E275K p.P1306F | Missense Missense | SNP MNP | 0.365 0.460 | 2 | - | - |
CCDC9 | - | - | - | - | 1 | Loss | - |
CCIN | - | - | - | - | 1 | Loss | - |
CCK | - | - | - | - | 1 | Loss | - |
CCL19 | - | - | - | - | 1 | Loss | - |
CCL21 | - | - | - | - | 1 | Loss | - |
CCL24 | - | - | - | - | 3 | Gain | - |
CCL25 | - | - | - | - | 1 | Loss | - |
CCL26 | - | - | - | - | 3 | Gain | - |
CCL27 | - | - | - | - | 1 | Loss | - |
CCM2 | - | - | - | - | 3 | Gain | - |
CCNB3 | p.S502F | Missense | SNP | 1.000 | ND | ND | - |
CCND2 | p.I287N | Missense | SNP | 0.580 | 2 | - | - |
CCNE2 | - | - | - | - | 5 | Amp | - |
CCNG1 | - | - | - | - | 1 | Loss | - |
CCNI2 | - | - | - | - | 1 | Loss | - |
CCNL1 | - | - | - | - | 3 | Gain | - |
CCPG1 | p.V417A | Missense | SNP | 0.436 | 2 | - | - |
CCR1 | - | - | - | - | 1 | Loss | - |
CCR2 | - | - | - | - | 1 | Loss | - |
CCR3 | - | - | - | - | 1 | Loss | - |
CCR4 | - | - | - | - | 1 | Loss | - |
CCR5 | - | - | - | - | 1 | Loss | - |
CCR8 | - | - | - | - | 1 | Loss | - |
CCR9 | - | - | - | - | 1 | Loss | - |
CCRL2 | - | - | - | - | 1 | Loss | - |
CCT5 | p.E10* p.R27C | Nonsense Missense | SNP SNP | 0.449 0.500 | 2 | - | - |
CCT6A | - | - | - | - | 3 | Gain | - |
CCT8L2 | p.G427E | Missense | SNP | 0.455 | 2 | - | - |
CCZ1 | - | - | - | - | 3 | Gain | - |
CCZ1B | - | - | - | - | 3 | Gain | - |
CD14 | p.H340Y | Missense | SNP | 0.368 | 1 | Loss | - |
CD163 | p.S366Lfs*8 | Frame_Shift_Del | DEL | 0.358 | 2 | - | - |
CD163L1 | p.W249* | Nonsense | SNP | 0.460 | 2 | - | - |
CD200 | - | - | - | - | 3 | Gain | - |
CD200R1 | - | - | - | - | 3 | Gain | - |
CD200R1L | - | - | - | - | 3 | Gain | - |
CD209 | - | - | - | - | 1 | Loss | - |
CD274 | - | - | - | - | 1 | Loss | - |
CD28 | p.G70E | Missense | SNP | 0.431 | 2 | - | - |
CD2AP | p.E140K | Missense | SNP | 0.317 | 2 | - | - |
CD300LG | p.W274* | Nonsense | SNP | 0.765 | 2 | - | - |
CD33 | - | - | - | - | 1 | Loss | - |
CD36 | - | - | - | - | 3 | Gain | - |
CD37 | - | - | - | - | 1 | Loss | - |
CD3EAP | - | - | - | - | 1 | Loss | - |
CD47 | - | - | - | - | 3 | Gain | - |
CD48 | p.W121* | Nonsense | SNP | 0.394 | 2 | - | - |
CD53 | . | Splice_Site | SNP | 0.469 | 2 | - | - |
CD68 | - | - | - | - | 1 | Loss | - |
CD70 | - | - | - | - | 1 | Loss | - |
CD72 | - | - | - | - | 1 | Loss | - |
CD74 | - | - | - | - | 1 | Loss | - |
CD80 | - | - | - | - | 3 | Gain | - |
CD86 | - | - | - | - | 3 | Gain | - |
CD96 | - | - | - | - | 3 | Gain | - |
CDC14B | - | - | - | - | 3 | Gain | - |
CDC14C | - | - | - | - | 3 | Gain | - |
CDC23 | - | - | - | - | 1 | Loss | - |
CDC25A | - | - | - | - | 1 | Loss | - |
CDC25C | p.S198F | Missense | SNP | 0.346 | 1 | Loss | - |
CDC26 | - | - | - | - | 3 | Gain | - |
CDC27 | p.P360S | Missense | SNP | 0.213 | 2 | - | - |
CDC34 | - | - | - | - | 1 | Loss | - |
CDC37L1 | - | - | - | - | 1 | Loss | - |
CDC42BPB | p.A614V | Missense | SNP | 0.510 | 2 | - | - |
CDC42EP5 | p.G126E | Missense | SNP | 0.394 | 1 | Loss | - |
CDC42SE2 | - | - | - | - | 1 | Loss | - |
CDCA7L | - | - | - | - | 3 | Gain | - |
CDCP1 | - | - | - | - | 1 | Loss | - |
CDH11 | p.P684L p.P410S p.V402A | Missense Missense Missense | SNP SNP SNP | 0.642 0.487 0.524 | 2 | - | - |
CDH17 | - | - | - | - | 5 | Amp | - |
CDH19 | p.G73E | Missense | SNP | 0.415 | 2 | - | - |
CDH6 | p.T308K | Missense | SNP | 0.538 | 2 | - | - |
CDHR2 | - | - | - | - | 1 | Loss | - |
CDHR3 | - | - | - | - | 3 | Gain | - |
CDHR4 | - | - | - | - | 1 | Loss | - |
CDHR5 | p.T437M | Missense | SNP | 0.502 | 2 | - | - |
CDK11B | p.X614_splice | Splice_Site | SNP | 0.440 | 2 | - | - |
CDK13 | - | - | - | - | 3 | Gain | - |
CDK14 | - | - | - | - | 3 | Gain | - |
CDK20 | - | - | - | - | 3 | Gain | - |
CDK5 | - | - | - | - | 3 | Gain | - |
CDK5RAP2 | p.V1676L | Missense | SNP | 0.612 | 3 | Gain | - |
CDK6 | - | - | - | - | 3 | Gain | - |
CDK9 | - | - | - | - | 3 | Gain | - |
CDKL2 | p.Q298* | Nonsense | SNP | 0.147 | 2 | - | - |
CDKL3 | - | - | - | - | 1 | Loss | - |
CDKL5 | p.G713D | Missense | SNP | 1.000 | ND | ND | - |
CDKN2A | p.R58* | Nonsense | SNP | 1.000 | 1 | Loss | - |
CDKN2AIP | p.H158Y | Missense | SNP | 0.544 | 1 | Loss | - |
CDKN2AIPNL | - | - | - | - | 1 | Loss | - |
CDKN2B | - | - | - | - | 1 | Loss | - |
CDO1 | - | - | - | - | 1 | Loss | - |
CDRT1 | - | - | - | - | 1 | Loss | - |
CDRT15 | - | - | - | - | 1 | Loss | - |
CDRT4 | - | - | - | - | 1 | Loss | - |
CDSN | p.V377Sfs*89 | Frame_Shift_Del | DEL | 0.938 | 2 | - | - |
CDV3 | - | - | - | - | 3 | Gain | - |
CDX1 | - | - | - | - | 1 | Loss | - |
CDX4 | p.P105L | Missense | SNP | 1.000 | ND | ND | - |
CEACAM16 | - | - | - | - | 1 | Loss | - |
CEACAM18 | - | - | - | - | 1 | Loss | - |
CEACAM19 | - | - | - | - | 1 | Loss | - |
CEACAM20 | p.R130Q | Missense | SNP | 0.495 | 2 | - | - |
CEACAM21 | p.P283S | Missense | SNP | 0.461 | 2 | - | - |
CEACAM4 | p.P193L | Missense | SNP | 0.519 | 2 | - | - |
CEBPD | - | - | - | - | 5 | Amp | - |
CECR6 | p.S167F | Missense | SNP | 0.494 | ND | ND | - |
CEL | - | - | - | - | 3 | Gain | - |
CELF5 | p.P268F | Missense | MNP | 0.313 | 1 | Loss | - |
CELSR3 | p.P1901L p.E444K | Missense Missense | SNP SNP | 0.231 0.251 | 1 | Loss | - |
CEMIP2 | - | - | - | - | 3 | Gain | - |
CENPF | p.R234K | Missense | SNP | 0.432 | 2 | - | - |
CENPP | - | - | - | - | 3 | Gain | - |
CENPT | p.R40K | Missense | SNP | 0.626 | 2 | - | - |
CENPU | - | - | - | - | 1 | Loss | - |
CENPV | - | - | - | - | 1 | Loss | - |
CEP112 | p.E583K | Missense | SNP | 0.125 | 2 | - | - |
CEP120 | - | - | - | - | 1 | Loss | - |
CEP131 | p.R155W | Missense | SNP | 0.801 | 2 | - | - |
CEP170 | p.A938T | Missense | SNP | 0.601 | 3 | Gain | - |
CEP170B | p.G197R p.Q453* | Missense Nonsense | SNP SNP | 0.418 0.455 | 2 | - | - |
CEP19 | - | - | - | - | 3 | Gain | - |
CEP250 | p.S1310F | Missense | SNP | 0.540 | 2 | - | - |
CEP41 | - | - | - | - | 3 | Gain | - |
CEP44 | - | - | - | - | 1 | Loss | - |
CEP63 | - | - | - | - | 3 | Gain | - |
CEP70 | - | - | - | - | 3 | Gain | - |
CEP78 | - | - | - | - | 3 | Gain | - |
CEP89 | p.E342K | Missense | SNP | 0.446 | 2 | - | - |
CEP97 | - | - | - | - | 3 | Gain | - |
CER1 | - | - | - | - | 1 | Loss | - |
CERCAM | - | - | - | - | 3 | Gain | - |
CERS1 | - | - | - | - | 1 | Loss | - |
CES1 | p.V136M | Missense | SNP | 0.281 | 2 | - | - |
CES4A | p.G77E | Missense | SNP | 0.703 | 2 | - | - |
CES5A | p.E386K | Missense | SNP | 0.601 | 2 | - | - |
CETP | p.A336T | Missense | SNP | 0.528 | 2 | - | - |
CFAP100 | - | - | - | - | 3 | Gain | - |
CFAP157 | - | - | - | - | 3 | Gain | - |
CFAP44 | - | - | - | - | 3 | Gain | - |
CFAP52 | - | - | - | - | 1 | Loss | - |
CFAP54 | p.R360K p.R901K | Missense Missense | SNP SNP | 0.560 0.181 | 2 | - | - |
CFAP58 | p.M759I | Missense | SNP | 0.496 | 2 | - | - |
CFAP69 | - | - | - | - | 3 | Gain | - |
CFAP77 | - | - | - | - | 3 | Gain | - |
CFAP97 | - | - | - | - | 1 | Loss | - |
CFD | - | - | - | - | 1 | Loss | - |
CFHR1 | p.R314Q | Missense | SNP | 0.608 | 2 | - | - |
CFHR4 | p.D424N | Missense | SNP | 0.402 | 2 | - | - |
CFTR | p.L889F | Missense | SNP | 0.514 | 3 | Gain | - |
CGB3 | - | - | - | - | 1 | Loss | - |
CGB5 | - | - | - | - | 1 | Loss | - |
CGGBP1 | - | - | - | - | 1 | Loss | - |
CHAF1A | p.H476L | Missense | SNP | 0.621 | 1 | Loss | - |
CHCHD2 | - | - | - | - | 3 | Gain | - |
CHCHD3 | - | - | - | - | 3 | Gain | - |
CHCHD4 | - | - | - | - | 1 | Loss | - |
CHCHD6 | - | - | - | - | 3 | Gain | - |
CHCHD7 | - | - | - | - | 5 | Amp | - |
CHD1 | p.D1657Y | Missense | SNP | 0.493 | 2 | - | - |
CHD3 | - | - | - | - | 1 | Loss | - |
CHD7 | - | - | - | - | 5 | Amp | - |
CHDH | - | - | - | - | 1 | Loss | - |
CHEK2 | p.D6N | Missense | SNP | 0.576 | 2 | - | - |
CHKA | p.P201S | Missense | SNP | 0.571 | 2 | - | - |
CHL1 | - | - | - | - | 1 | Loss | - |
CHML | - | - | - | - | 3 | Gain | - |
CHMP2A | - | - | - | - | 1 | Loss | - |
CHMP2B | - | - | - | - | 1 | Loss | - |
CHMP4C | - | - | - | - | 5 | Amp | - |
CHMP5 | - | - | - | - | 1 | Loss | - |
CHMP6 | p.A133V | Missense | SNP | 0.667 | 2 | - | - |
CHN2 | - | - | - | - | 3 | Gain | - |
CHPF2 | - | - | - | - | 3 | Gain | - |
CHRAC1 | - | - | - | - | 5 | Amp | - |
CHRD | - | - | - | - | 3 | Gain | - |
CHRM2 | p.W422* | Nonsense | SNP | 0.997 | 3 | Gain | - |
CHRM3 | p.G219R p.G272E | Missense Missense | SNP SNP | 0.344 0.615 | 3 | Gain | - |
CHRM5 | p.A102S p.S414L | Missense Missense | SNP SNP | 0.488 0.479 | 2 | - | - |
CHRNA4 | p.E31K | Missense | SNP | 0.615 | 2 | - | - |
CHRNB1 | - | - | - | - | 1 | Loss | - |
CHRNE | - | - | - | - | 1 | Loss | - |
CHST12 | - | - | - | - | 3 | Gain | - |
CHST13 | - | - | - | - | 3 | Gain | - |
CHST2 | - | - | - | - | 3 | Gain | - |
CHST8 | p.N48S | Missense | SNP | 0.573 | 2 | - | - |
CHSY3 | p.P483L | Missense | SNP | 0.323 | 1 | Loss | - |
CHTF18 | p.G39R | Missense | SNP | 0.324 | 2 | - | - |
CIDEC | - | - | - | - | 1 | Loss | - |
CILP2 | - | - | - | - | 1 | Loss | - |
CIP2A | - | - | - | - | 3 | Gain | - |
CIRBP | - | - | - | - | 1 | Loss | - |
CISH | - | - | - | - | 1 | Loss | - |
CIT | p.P1346L | Missense | SNP | 0.636 | 2 | - | - |
CITED2 | p.P214R | Missense | SNP | 0.385 | 2 | - | - |
CIZ1 | - | - | - | - | 3 | Gain | - |
CKAP4 | p.S275F | Missense | SNP | 0.571 | 2 | - | - |
CKM | - | - | - | - | 1 | Loss | - |
CKS2 | - | - | - | - | 3 | Gain | - |
CLASP2 | - | - | - | - | 1 | Loss | - |
CLASRP | - | - | - | - | 1 | Loss | - |
CLCA1 | p.P752L | Missense | MNP | 0.615 | 2 | - | - |
CLCN1 | - | - | - | - | 3 | Gain | - |
CLCN2 | p.A479V | Missense | SNP | 0.328 | 3 | Gain | - |
CLCN3 | p.G37R | Missense | SNP | 0.270 | 2 | - | - |
CLCN6 | p.R735W | Missense | SNP | 0.538 | 2 | - | - |
CLCNKB | p.E225K | Missense | SNP | 0.438 | 2 | - | - |
CLDN1 | - | - | - | - | 3 | Gain | - |
CLDN11 | - | - | - | - | 3 | Gain | - |
CLDN12 | - | - | - | - | 3 | Gain | - |
CLDN15 | - | - | - | - | 3 | Gain | - |
CLDN16 | - | - | - | - | 3 | Gain | - |
CLDN18 | p.G198C | Missense | SNP | 0.311 | 3 | Gain | - |
CLDN22 | - | - | - | - | 1 | Loss | - |
CLDN24 | - | - | - | - | 1 | Loss | - |
CLDN3 | - | - | - | - | 3 | Gain | - |
CLDN4 | - | - | - | - | 3 | Gain | - |
CLDN7 | - | - | - | - | 1 | Loss | - |
CLDND1 | - | - | - | - | 3 | Gain | - |
CLDND2 | - | - | - | - | 1 | Loss | - |
CLEC10A | - | - | - | - | 1 | Loss | - |
CLEC11A | - | - | - | - | 1 | Loss | - |
CLEC2L | - | - | - | - | 3 | Gain | - |
CLEC3B | - | - | - | - | 1 | Loss | - |
CLEC4G | - | - | - | - | 1 | Loss | - |
CLEC4M | - | - | - | - | 1 | Loss | - |
CLEC5A | - | - | - | - | 3 | Gain | - |
CLIC3 | - | - | - | - | 3 | Gain | - |
CLINT1 | - | - | - | - | 1 | Loss | - |
CLIP2 | - | - | - | - | 3 | Gain | - |
CLIP4 | p.E410K | Missense | SNP | 0.506 | 2 | - | - |
CLK4 | - | - | - | - | 1 | Loss | - |
CLPP | - | - | - | - | 1 | Loss | - |
CLPTM1 | - | - | - | - | 1 | Loss | - |
CLRN1 | - | - | - | - | 3 | Gain | - |
CLSTN1 | p.G19E | Missense | SNP | 0.423 | 2 | - | - |
CLSTN2 | - | - | - | - | 3 | Gain | - |
CLTA | p.P186F | Missense | MNP | 1.000 | 1 | Loss | - |
CLTB | - | - | - | - | 1 | Loss | - |
CLUH | p.X831_splice | Splice_Site | SNP | 0.676 | 1 | Loss | - |
CLVS1 | - | - | - | - | 5 | Amp | - |
CMC1 | - | - | - | - | 1 | Loss | - |
CMSS1 | - | - | - | - | 3 | Gain | - |
CMTM1 | p.S132F | Missense | SNP | 0.428 | 2 | - | - |
CMTM6 | - | - | - | - | 1 | Loss | - |
CMTM7 | - | - | - | - | 1 | Loss | - |
CMTM8 | - | - | - | - | 1 | Loss | - |
CMYA5 | p.E100D p.E1984K p.S2145F p.P3846L | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.540 0.449 0.513 0.588 | 2 | - | - |
CNBD1 | p.P412L | Missense | SNP | 0.210 | 5 | Amp | - |
CNBP | - | - | - | - | 3 | Gain | - |
CNGA2 | p.G339R | Missense | SNP | 1.000 | ND | ND | - |
CNGB3 | - | - | - | - | 5 | Amp | - |
CNN2 | - | - | - | - | 1 | Loss | - |
CNOT10 | - | - | - | - | 1 | Loss | - |
CNOT3 | - | - | - | - | 1 | Loss | - |
CNOT4 | - | - | - | - | 3 | Gain | - |
CNOT6 | - | - | - | - | 1 | Loss | - |
CNOT8 | - | - | - | - | 1 | Loss | - |
CNPY1 | - | - | - | - | 3 | Gain | - |
CNPY4 | - | - | - | - | 3 | Gain | - |
CNST | - | - | - | - | 3 | Gain | - |
CNTFR | - | - | - | - | 1 | Loss | - |
CNTLN | - | - | - | - | 1 | Loss | - |
CNTN3 | - | - | - | - | 1 | Loss | - |
CNTN4 | p.G367R p.N893I | Missense Missense | SNP SNP | 0.571 0.725 | 1 | Loss | - |
CNTN5 | p.P740L | Missense | SNP | 0.500 | 2 | - | - |
CNTN6 | p.R172Q | Missense | SNP | 0.312 | 1 | Loss | - |
CNTNAP2 | p.M442I | Missense | SNP | 1.000 | 3 | Gain | - |
CNTNAP3 | - | - | - | - | 1 | Loss | - |
CNTNAP3B | - | - | - | - | 3 | Gain | - |
CNTNAP3C | - | - | - | - | 1 | Loss | - |
CNTRL | p.E1681* | Nonsense | SNP | 0.287 | 3 | Gain | - |
CNTROB | - | - | - | - | 1 | Loss | - |
COA1 | - | - | - | - | 3 | Gain | - |
COBL | p.G897N | Missense | MNP | 0.496 | 3 | Gain | - |
COG3 | p.E182K | Missense | SNP | 0.565 | 2 | - | - |
COG5 | - | - | - | - | 3 | Gain | - |
COL11A1 | p.P474Qfs*20 p.P1536T p.E917K | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.095 0.357 0.328 | 2 | - | - |
COL14A1 | - | - | - | - | 5 | Amp | - |
COL15A1 | - | - | - | - | 3 | Gain | - |
COL19A1 | p.P423L p.G424R p.G992R | Missense Missense Missense | MNP SNP SNP | 0.565 0.429 0.422 | 2 | - | - |
COL1A2 | p.X1000_splice p.P1212S | Splice_Site Missense | SNP SNP | 0.568 0.429 | 3 | Gain | - |
COL20A1 | p.G579D | Missense | SNP | 0.518 | 2 | - | - |
COL22A1 | p.G1216E p.G1150R p.E959K | Missense Missense Missense | SNP SNP SNP | 0.241 0.729 0.237 | 5 | Amp | - |
COL23A1 | - | - | - | - | 1 | Loss | - |
COL24A1 | p.G206E | Missense | SNP | 0.459 | 2 | - | - |
COL26A1 | - | - | - | - | 3 | Gain | - |
COL27A1 | p.P85S | Missense | SNP | 0.340 | 3 | Gain | - |
COL28A1 | - | - | - | - | 3 | Gain | - |
COL3A1 | p.A950G p.P1040S | Missense Missense | SNP SNP | 0.340 0.590 | 2 | - | - |
COL4A2 | p.P75Q p.P473L p.P1424S | Missense Missense Missense | SNP SNP SNP | 0.356 0.556 0.642 | 2 | - | - |
COL4A3 | p.L1605Q | Missense | SNP | 0.568 | 2 | - | - |
COL4A4 | p.G1334R p.Q1022* p.P419L | Missense Nonsense Missense | SNP SNP SNP | 0.419 0.453 0.562 | 2 | - | - |
COL5A1 | - | - | - | - | 3 | Gain | - |
COL5A3 | p.P1014L p.G692E | Missense Missense | SNP SNP | 0.512 0.500 | 2 | - | - |
COL6A3 | p.C14R | Missense | SNP | 0.513 | 2 | - | - |
COL6A5 | p.G375E p.G1428R | Missense Missense | SNP SNP | 0.725 0.240 | 3 | Gain | - |
COL6A6 | p.R804Q | Missense | SNP | 0.277 | 3 | Gain | - |
COL7A1 | - | - | - | - | 1 | Loss | - |
COL8A1 | - | - | - | - | 3 | Gain | - |
COL9A1 | p.P895S p.G736S | Missense Missense | SNP SNP | 0.322 0.636 | 2 | - | - |
COL9A2 | p.D443Y | Missense | SNP | 0.322 | 2 | - | - |
COLEC10 | - | - | - | - | 5 | Amp | - |
COLQ | - | - | - | - | 1 | Loss | - |
COMMD10 | - | - | - | - | 1 | Loss | - |
COMMD2 | - | - | - | - | 3 | Gain | - |
COMMD5 | - | - | - | - | 6 | Amp | - |
COMP | - | - | - | - | 1 | Loss | - |
COPA | p.R726C | Missense | SNP | 0.565 | 2 | - | - |
COPB2 | - | - | - | - | 3 | Gain | - |
COPE | - | - | - | - | 1 | Loss | - |
COPG1 | - | - | - | - | 3 | Gain | - |
COPG2 | - | - | - | - | 3 | Gain | - |
COPS3 | - | - | - | - | 1 | Loss | - |
COPS5 | - | - | - | - | 5 | Amp | - |
COPS6 | - | - | - | - | 3 | Gain | - |
COQ4 | - | - | - | - | 3 | Gain | - |
CORO2A | - | - | - | - | 3 | Gain | - |
COX10 | - | - | - | - | 1 | Loss | - |
COX17 | - | - | - | - | 3 | Gain | - |
COX19 | - | - | - | - | 3 | Gain | - |
COX20 | - | - | - | - | 3 | Gain | - |
COX6C | - | - | - | - | 5 | Amp | - |
CP | - | - | - | - | 3 | Gain | - |
CPA1 | - | - | - | - | 3 | Gain | - |
CPA2 | - | - | - | - | 3 | Gain | - |
CPA3 | - | - | - | - | 3 | Gain | - |
CPA4 | - | - | - | - | 3 | Gain | - |
CPA5 | - | - | - | - | 3 | Gain | - |
CPA6 | - | - | - | - | 5 | Amp | - |
CPB1 | - | - | - | - | 3 | Gain | - |
CPEB2 | p.P895L | Missense | SNP | 0.569 | 2 | - | - |
CPEB4 | - | - | - | - | 1 | Loss | - |
CPED1 | - | - | - | - | 3 | Gain | - |
CPLX2 | - | - | - | - | 1 | Loss | - |
CPN2 | - | - | - | - | 3 | Gain | - |
CPNE1 | p.G478E | Missense | SNP | 0.513 | 2 | - | - |
CPNE3 | - | - | - | - | 5 | Amp | - |
CPNE4 | - | - | - | - | 3 | Gain | - |
CPNE9 | - | - | - | - | 1 | Loss | - |
CPOX | - | - | - | - | 3 | Gain | - |
CPQ | - | - | - | - | 5 | Amp | - |
CPSF1 | - | - | - | - | 6 | Amp | - |
CPSF4 | - | - | - | - | 3 | Gain | - |
CPT1C | p.S396F | Missense | SNP | 0.563 | 1 | Loss | - |
CPVL | - | - | - | - | 3 | Gain | - |
CR1 | p.W2283* | Nonsense | MNP | 0.502 | 2 | - | - |
CRAT | - | - | - | - | 3 | Gain | - |
CRB2 | - | - | - | - | 3 | Gain | - |
CRB3 | - | - | - | - | 1 | Loss | - |
CRBN | - | - | - | - | 1 | Loss | - |
CRCP | - | - | - | - | 3 | Gain | - |
CREB3 | - | - | - | - | 1 | Loss | - |
CREB3L2 | - | - | - | - | 3 | Gain | - |
CREB3L3 | p.P341L | Missense | SNP | 0.679 | 1 | Loss | - |
CREB5 | - | - | - | - | 3 | Gain | - |
CREBRF | - | - | - | - | 1 | Loss | - |
CRELD1 | - | - | - | - | 1 | Loss | - |
CRH | - | - | - | - | 5 | Amp | - |
CRHR2 | - | - | - | - | 3 | Gain | - |
CRIP2 | p.G52E | Missense | SNP | 0.618 | 2 | - | - |
CRISPLD1 | p.W99L | Missense | SNP | 0.724 | 5 | Amp | - |
CRK | - | - | - | - | 1 | Loss | - |
CRLF1 | - | - | - | - | 1 | Loss | - |
CRLF3 | p.D160N | Missense | SNP | 0.737 | 2 | - | - |
CRMP1 | p.P637L | Missense | SNP | 0.382 | 2 | - | - |
CROT | - | - | - | - | 3 | Gain | - |
CRP | p.D34N | Missense | SNP | 0.607 | 2 | - | - |
CRTAM | p.E340K | Missense | SNP | 0.506 | 2 | - | - |
CRTAP | - | - | - | - | 1 | Loss | - |
CRTC1 | - | - | - | - | 1 | Loss | - |
CRX | p.D130N | Missense | SNP | 0.355 | 1 | Loss | - |
CRY2 | p.X11_splice | Splice_Site | SNP | 0.459 | 2 | - | - |
CRYBG3 | p.G2584E | Missense | SNP | 0.294 | 3 | Gain | - |
CRYGN | - | - | - | - | 3 | Gain | - |
CRYGS | - | - | - | - | 3 | Gain | - |
CSF1R | - | - | - | - | 1 | Loss | - |
CSF2 | p.F120C | Missense | SNP | 0.650 | 1 | Loss | - |
CSF2RB | p.P313L | Missense | SNP | 0.370 | 2 | - | - |
CSMD1 | p.P491S p.E241G | Missense Missense | SNP SNP | 0.425 0.362 | 2 | - | - |
CSMD2 | p.P232L | Missense | SNP | 0.389 | 2 | - | - |
CSMD3 | p.E2491K p.W2486* | Missense Nonsense | SNP SNP | 0.165 0.174 | 5 | Amp | - |
CSNK1A1 | - | - | - | - | 1 | Loss | - |
CSNK1G2 | - | - | - | - | 1 | Loss | - |
CSNK1G3 | - | - | - | - | 1 | Loss | - |
CSNK2A2 | p.L250V | Missense | SNP | 0.364 | 2 | - | - |
CSPG5 | - | - | - | - | 1 | Loss | - |
CSPP1 | - | - | - | - | 5 | Amp | - |
CSRNP1 | - | - | - | - | 1 | Loss | - |
CST1 | p.C94S | Missense | SNP | 0.380 | 2 | - | - |
CSTA | - | - | - | - | 3 | Gain | - |
CSTF3 | p.E468K p.L105F | Missense Missense | SNP SNP | 0.492 0.505 | 2 | - | - |
CT47B1 | p.E238K | Missense | SNP | 1.000 | ND | ND | - |
CTAGE15 | - | - | - | - | 3 | Gain | - |
CTAGE4 | - | - | - | - | 3 | Gain | - |
CTAGE6 | - | - | - | - | 3 | Gain | - |
CTAGE8 | - | - | - | - | 3 | Gain | - |
CTC-260F20.3 | p.A136V | Missense | SNP | 0.609 | ND | ND | - |
CTC1 | - | - | - | - | 1 | Loss | - |
CTDNEP1 | - | - | - | - | 1 | Loss | - |
CTDP1 | p.P763L | Missense | SNP | 0.564 | 2 | - | - |
CTDSPL | p.P93L | Missense | SNP | 0.373 | 1 | Loss | - |
CTHRC1 | - | - | - | - | 5 | Amp | - |
CTNNA1 | - | - | - | - | 1 | Loss | - |
CTNNA2 | p.G100C p.R760C | Missense Missense | SNP SNP | 0.464 0.485 | 2 | - | - |
CTNNAL1 | - | - | - | - | 3 | Gain | - |
CTNNB1 | - | - | - | - | 1 | Loss | - |
CTNS | - | - | - | - | 1 | Loss | - |
CTSA | p.P132L p.L391F | Missense Missense | SNP SNP | 0.677 0.514 | 2 | - | - |
CTSL | - | - | - | - | 3 | Gain | - |
CTSV | - | - | - | - | 3 | Gain | - |
CTTNBP2 | - | - | - | - | 3 | Gain | - |
CTU1 | - | - | - | - | 1 | Loss | - |
CTXN1 | - | - | - | - | 1 | Loss | - |
CTXN3 | - | - | - | - | 1 | Loss | - |
CUL1 | - | - | - | - | 3 | Gain | - |
CUL9 | p.S1733N | Missense | SNP | 0.340 | 2 | - | - |
CUX1 | p.P936L | Missense | SNP | 0.511 | 3 | Gain | - |
CUX2 | p.P385S | Missense | SNP | 0.561 | 2 | - | - |
CWH43 | - | - | - | - | 3 | Gain | - |
CX3CR1 | - | - | - | - | 1 | Loss | - |
CXCL14 | - | - | - | - | 1 | Loss | - |
CXCL16 | - | - | - | - | 1 | Loss | - |
CXCR1 | p.R313C | Missense | SNP | 0.522 | 2 | - | - |
CXCR2 | p.R322C | Missense | SNP | 0.513 | 2 | - | - |
CXCR6 | - | - | - | - | 1 | Loss | - |
CXXC5 | - | - | - | - | 1 | Loss | - |
CYB561D2 | - | - | - | - | 1 | Loss | - |
CYB5D1 | - | - | - | - | 1 | Loss | - |
CYB5D2 | - | - | - | - | 1 | Loss | - |
CYB5R1 | p.Q217* | Nonsense | SNP | 0.582 | 2 | - | - |
CYC1 | - | - | - | - | 6 | Amp | - |
CYCS | - | - | - | - | 3 | Gain | - |
CYFIP2 | - | - | - | - | 1 | Loss | - |
CYHR1 | - | - | - | - | 6 | Amp | - |
CYLC2 | - | - | - | - | 3 | Gain | - |
CYP11B1 | - | - | - | - | 6 | Amp | - |
CYP11B2 | - | - | - | - | 6 | Amp | - |
CYP1A1 | p.E369K;p.M368I | Missense | MNP | 0.520 | 2 | - | - |
CYP24A1 | p.R386K | Missense | SNP | 0.579 | 2 | - | - |
CYP2A6 | p.G74E | Missense | SNP | 0.527 | 2 | - | - |
CYP2B6 | p.A279T | Missense | SNP | 0.278 | 2 | - | - |
CYP2J2 | p.R371K | Missense | SNP | 0.518 | 2 | - | - |
CYP2W1 | p.P39R | Missense | SNP | 0.382 | 3 | Gain | - |
CYP3A4 | - | - | - | - | 3 | Gain | - |
CYP3A43 | - | - | - | - | 3 | Gain | - |
CYP3A5 | p.T310N | Missense | SNP | 0.451 | 3 | Gain | - |
CYP3A7 | - | - | - | - | 3 | Gain | - |
CYP3A7-CYP3A51P | - | - | - | - | 3 | Gain | - |
CYP4A11 | p.D517N p.D293H | Missense Missense | SNP SNP | 0.423 0.259 | 2 | - | - |
CYP4A22 | p.G439S p.G501R | Missense Missense | SNP SNP | 0.542 0.450 | 2 | - | - |
CYP4F2 | p.P279S | Missense | SNP | 0.517 | 2 | - | - |
CYP4F22 | p.D455N | Missense | SNP | 0.538 | 2 | - | - |
CYP4V2 | - | - | - | - | 1 | Loss | - |
CYP51A1 | - | - | - | - | 3 | Gain | - |
CYP7A1 | - | - | - | - | 5 | Amp | - |
CYP7B1 | - | - | - | - | 5 | Amp | - |
CYP8B1 | - | - | - | - | 1 | Loss | - |
CYREN | - | - | - | - | 3 | Gain | - |
CYSLTR2 | p.S7F | Missense | SNP | 0.432 | 2 | - | - |
CYSRT1 | - | - | - | - | 3 | Gain | - |
CYSTM1 | - | - | - | - | 1 | Loss | - |
CYTH2 | - | - | - | - | 1 | Loss | - |
CYTH3 | - | - | - | - | 3 | Gain | - |
DAB2IP | - | - | - | - | 3 | Gain | - |
DACT1 | p.G369E p.G631E | Missense Missense | SNP SNP | 0.519 0.522 | 2 | - | - |
DACT3 | p.D66N | Missense | SNP | 0.489 | 1 | Loss | - |
DAG1 | - | - | - | - | 1 | Loss | - |
DAGLB | - | - | - | - | 3 | Gain | - |
DALRD3 | - | - | - | - | 1 | Loss | - |
DAPK1 | p.G772E | Missense | SNP | 0.326 | 3 | Gain | - |
DAPK3 | - | - | - | - | 1 | Loss | - |
DAZAP1 | p.E93K | Missense | SNP | 0.667 | 1 | Loss | - |
DAZL | - | - | - | - | 1 | Loss | - |
DBF4 | - | - | - | - | 3 | Gain | - |
DBH | - | - | - | - | 3 | Gain | - |
DBN1 | - | - | - | - | 1 | Loss | - |
DBNL | - | - | - | - | 3 | Gain | - |
DBP | - | - | - | - | 1 | Loss | - |
DBR1 | - | - | - | - | 3 | Gain | - |
DBT | p.K222* p.E148K | Nonsense Missense | SNP SNP | 0.527 0.555 | 2 | - | - |
DCAF1 | - | - | - | - | 1 | Loss | - |
DCAF10 | - | - | - | - | 1 | Loss | - |
DCAF12 | - | - | - | - | 1 | Loss | - |
DCAF13 | p.G81E p.W346* | Missense Nonsense | SNP SNP | 0.259 0.197 | 5 | Amp | - |
DCAF4L2 | - | - | - | - | 5 | Amp | - |
DCANP1 | p.G71E | Missense | SNP | 0.631 | 1 | Loss | - |
DCBLD2 | - | - | - | - | 3 | Gain | - |
DCC | p.E278K | Missense | SNP | 0.503 | 2 | - | - |
DCHS2 | p.D2626N p.H2144Y | Missense Missense | SNP SNP | 0.331 0.761 | 2 | - | - |
DCLK1 | p.E454K | Missense | SNP | 0.510 | 2 | - | - |
DCLK3 | p.R291* | Nonsense | SNP | 0.323 | 1 | Loss | - |
DCP1A | - | - | - | - | 1 | Loss | - |
DCSTAMP | - | - | - | - | 5 | Amp | - |
DCTD | - | - | - | - | 1 | Loss | - |
DCTN1 | - | - | - | - | 1 | Loss | - |
DCTN3 | - | - | - | - | 1 | Loss | - |
DCTN4 | - | - | - | - | 1 | Loss | - |
DCUN1D1 | - | - | - | - | 3 | Gain | - |
DDC | - | - | - | - | 3 | Gain | - |
DDHD2 | p.G87V | Missense | SNP | 0.406 | 2 | - | - |
DDI1 | p.E383K | Missense | SNP | 0.370 | 2 | - | - |
DDIAS | p.P347L | Missense | SNP | 0.437 | 2 | - | - |
DDX31 | p.R72K | Missense | SNP | 0.589 | 3 | Gain | - |
DDX41 | - | - | - | - | 1 | Loss | - |
DDX46 | - | - | - | - | 1 | Loss | - |
DDX49 | - | - | - | - | 1 | Loss | - |
DDX56 | - | - | - | - | 3 | Gain | - |
DDX58 | - | - | - | - | 1 | Loss | - |
DDX60L | p.L1576F | Missense | SNP | 0.258 | 2 | - | - |
DEC1 | - | - | - | - | 3 | Gain | - |
DECR1 | - | - | - | - | 5 | Amp | - |
DELE1 | - | - | - | - | 1 | Loss | - |
DENND1A | - | - | - | - | 3 | Gain | - |
DENND1C | - | - | - | - | 1 | Loss | - |
DENND2A | - | - | - | - | 3 | Gain | - |
DENND3 | - | - | - | - | 6 | Amp | - |
DENND4B | p.S1106F | Missense | SNP | 0.436 | 2 | - | - |
DENND4C | - | - | - | - | 1 | Loss | - |
DENND6A | - | - | - | - | 1 | Loss | - |
DEPDC4 | p.G187R p.G137E | Missense Missense | SNP SNP | 0.469 0.377 | 2 | - | - |
DEPTOR | - | - | - | - | 5 | Amp | - |
DERL1 | - | - | - | - | 5 | Amp | - |
DERL2 | - | - | - | - | 1 | Loss | - |
DESI2 | - | - | - | - | 3 | Gain | - |
DGAT1 | - | - | - | - | 6 | Amp | - |
DGKB | - | - | - | - | 3 | Gain | - |
DGKG | - | - | - | - | 3 | Gain | - |
DGKH | p.A537V | Missense | SNP | 0.391 | 2 | - | - |
DGKI | - | - | - | - | 3 | Gain | - |
DGUOK | - | - | - | - | 1 | Loss | - |
DHDH | - | - | - | - | 1 | Loss | - |
DHFR2 | - | - | - | - | 3 | Gain | - |
DHRS7C | - | - | - | - | 1 | Loss | - |
DHX30 | - | - | - | - | 1 | Loss | - |
DHX33 | - | - | - | - | 1 | Loss | - |
DHX34 | p.P617S p.P1036L | Missense Missense | SNP SNP | 0.518 0.602 | 1 | Loss | - |
DHX36 | - | - | - | - | 3 | Gain | - |
DHX37 | p.P1055S | Missense | SNP | 0.483 | 2 | - | - |
DIAPH1 | - | - | - | - | 1 | Loss | - |
DIDO1 | p.P1848S | Missense | SNP | 0.372 | 2 | - | - |
DIP2B | p.P690L | Missense | SNP | 0.620 | 2 | - | - |
DIRAS1 | - | - | - | - | 1 | Loss | - |
DIRAS2 | p.D179N p.G120E | Missense Missense | SNP SNP | 0.663 0.359 | 3 | Gain | - |
DIRC2 | - | - | - | - | 3 | Gain | - |
DISC1 | p.S100F | Missense | SNP | 0.558 | 2 | - | - |
DISP2 | p.E479K p.G1154E | Missense Missense | SNP SNP | 0.472 0.583 | 2 | - | - |
DKKL1 | - | - | - | - | 1 | Loss | - |
DLC1 | p.A767V p.G34E | Missense Missense | SNP SNP | 0.327 0.407 | 2 | - | - |
DLD | - | - | - | - | 3 | Gain | - |
DLEC1 | - | - | - | - | 1 | Loss | - |
DLG1 | - | - | - | - | 3 | Gain | - |
DLG4 | p.G462E | Missense | SNP | 0.694 | 1 | Loss | - |
DLX5 | p.Q148* | Nonsense | SNP | 0.512 | 3 | Gain | - |
DLX6 | - | - | - | - | 3 | Gain | - |
DMAC1 | - | - | - | - | 1 | Loss | - |
DMP1 | p.E464K | Missense | SNP | 0.690 | 2 | - | - |
DMPK | - | - | - | - | 1 | Loss | - |
DMRT1 | p.M233I | Missense | SNP | 1.000 | 1 | Loss | - |
DMRT2 | - | - | - | - | 1 | Loss | - |
DMRT3 | - | - | - | - | 1 | Loss | - |
DMRTA1 | - | - | - | - | 1 | Loss | - |
DMTF1 | - | - | - | - | 3 | Gain | - |
DMWD | p.P483L | Missense | MNP | 0.603 | 1 | Loss | - |
DMXL1 | p.R2769* | Nonsense | SNP | 0.672 | 1 | Loss | - |
DNAAF5 | - | - | - | - | 3 | Gain | - |
DNAH1 | - | - | - | - | 1 | Loss | - |
DNAH10OS | p.G119K | Missense | MNP | 0.528 | ND | ND | - |
DNAH11 | p.S2370L p.R3064K p.P3283L | Missense Missense Missense | SNP SNP SNP | 0.524 0.432 0.492 | 3 | Gain | - |
DNAH12 | p.D1492N p.G130E | Missense Missense | SNP SNP | 0.297 0.254 | 1 | Loss | - |
DNAH14 | p.G2611E | Missense | SNP | 0.431 | 2 | - | - |
DNAH17 | p.P3994L | Missense | SNP | 0.168 | 2 | - | - |
DNAH2 | p.R2523* p.S2560F | Nonsense Missense | SNP SNP | 0.350 0.294 | 1 | Loss | - |
DNAH5 | p.G3206E p.R665K | Missense Missense | SNP SNP | 0.456 0.451 | 2 | - | - |
DNAH7 | p.R2099Q | Missense | SNP | 0.579 | 2 | - | - |
DNAH8 | p.S4320L | Missense | SNP | 0.590 | 2 | - | - |
DNAH9 | p.P968S | Missense | SNP | 0.714 | 1 | Loss | - |
DNAI1 | - | - | - | - | 1 | Loss | - |
DNAJA1 | - | - | - | - | 1 | Loss | - |
DNAJB11 | - | - | - | - | 3 | Gain | - |
DNAJB5 | - | - | - | - | 1 | Loss | - |
DNAJB6 | - | - | - | - | 3 | Gain | - |
DNAJB8 | - | - | - | - | 3 | Gain | - |
DNAJB9 | - | - | - | - | 3 | Gain | - |
DNAJC13 | - | - | - | - | 3 | Gain | - |
DNAJC18 | - | - | - | - | 1 | Loss | - |
DNAJC19 | - | - | - | - | 3 | Gain | - |
DNAJC2 | - | - | - | - | 3 | Gain | - |
DNAJC25 | - | - | - | - | 3 | Gain | - |
DNAJC25-GNG10 | - | - | - | - | 3 | Gain | - |
DNAJC30 | - | - | - | - | 3 | Gain | - |
DNAJC5B | - | - | - | - | 5 | Amp | - |
DNAJC7 | p.M205I | Missense | SNP | 0.212 | 2 | - | - |
DNALI1 | p.E89K | Missense | SNP | 0.459 | 2 | - | - |
DNASE1L3 | - | - | - | - | 1 | Loss | - |
DNASE2 | p.P305S | Missense | SNP | 0.500 | 2 | - | - |
DND1 | - | - | - | - | 1 | Loss | - |
DNER | p.L468P | Missense | SNP | 0.448 | 2 | - | - |
DNLZ | - | - | - | - | 3 | Gain | - |
DNM1 | - | - | - | - | 3 | Gain | - |
DNMT3A | p.P709L | Missense | SNP | 0.447 | 2 | - | - |
DOC2B | - | - | - | - | 1 | Loss | - |
DOCK11 | p.D1389N | Missense | SNP | 1.000 | ND | ND | - |
DOCK2 | p.E1614Q | Missense | SNP | 0.060 | 1 | Loss | - |
DOCK3 | p.R285K | Missense | SNP | 0.318 | 1 | Loss | - |
DOCK4 | p.L1237F p.G1045D | Missense Missense | SNP SNP | 0.560 0.514 | 3 | Gain | - |
DOCK8 | - | - | - | - | 1 | Loss | - |
DOCK9 | p.G1788R | Missense | SNP | 0.497 | 2 | - | - |
DOHH | - | - | - | - | 1 | Loss | - |
DOK3 | - | - | - | - | 1 | Loss | - |
DOLK | - | - | - | - | 3 | Gain | - |
DOLPP1 | - | - | - | - | 3 | Gain | - |
DOPEY1 | p.P536F | Missense | MNP | 0.492 | ND | ND | - |
DOPEY2 | p.Q624H | Missense | SNP | 0.263 | ND | ND | - |
DOT1L | - | - | - | - | 1 | Loss | - |
DPEP3 | p.G207S | Missense | SNP | 0.371 | 2 | - | - |
DPH1 | - | - | - | - | 1 | Loss | - |
DPH3 | - | - | - | - | 1 | Loss | - |
DPH7 | - | - | - | - | 3 | Gain | - |
DPM2 | - | - | - | - | 3 | Gain | - |
DPP10 | p.G397E | Missense | SNP | 0.429 | 2 | - | - |
DPP6 | - | - | - | - | 3 | Gain | - |
DPP7 | - | - | - | - | 3 | Gain | - |
DPP9 | - | - | - | - | 1 | Loss | - |
DPPA2 | - | - | - | - | 3 | Gain | - |
DPPA4 | - | - | - | - | 3 | Gain | - |
DPRX | - | - | - | - | 1 | Loss | - |
DPT | p.M100I | Missense | SNP | 0.529 | 2 | - | - |
DPY19L1 | p.S654F | Missense | SNP | 0.482 | 3 | Gain | - |
DPY19L2 | p.G237E | Missense | SNP | 0.467 | 2 | - | - |
DPY19L4 | - | - | - | - | 5 | Amp | - |
DPYS | - | - | - | - | 5 | Amp | - |
DPYSL3 | - | - | - | - | 1 | Loss | - |
DQX1 | p.S275F | Missense | SNP | 0.273 | 1 | Loss | - |
DRC1 | p.F362L | Missense | SNP | 0.392 | 2 | - | - |
DRC3 | - | - | - | - | 1 | Loss | - |
DRD1 | - | - | - | - | 1 | Loss | - |
DRD3 | - | - | - | - | 3 | Gain | - |
DRG2 | - | - | - | - | 1 | Loss | - |
DSC2 | p.Q465* | Nonsense | SNP | 0.463 | 2 | - | - |
DSCAML1 | p.E267K | Missense | SNP | 0.508 | 2 | - | - |
DSCC1 | - | - | - | - | 5 | Amp | - |
DSEL | p.P777L p.V510L | Missense Missense | SNP SNP | 0.559 0.445 | 2 | - | - |
DSG2 | p.S363L p.L1023F | Missense Missense | SNP SNP | 0.235 0.466 | 2 | - | - |
DTHD1 | p.D672N | Missense | SNP | 0.510 | 2 | - | - |
DTNA | p.R166Q | Missense | SNP | 0.500 | 2 | - | - |
DTNB | p.S86F | Missense | SNP | 0.533 | 2 | - | - |
DTWD1 | p.P142S | Missense | SNP | 0.413 | 2 | - | - |
DTWD2 | - | - | - | - | 1 | Loss | - |
DTX2 | - | - | - | - | 3 | Gain | - |
DTX3L | - | - | - | - | 3 | Gain | - |
DUOX2 | p.R1110L | Missense | SNP | 0.524 | 2 | - | - |
DUS3L | - | - | - | - | 1 | Loss | - |
DUS4L | - | - | - | - | 3 | Gain | - |
DUSP1 | - | - | - | - | 1 | Loss | - |
DUSP22 | p.T105I | Missense | SNP | 0.332 | 2 | - | - |
DUSP7 | - | - | - | - | 1 | Loss | - |
DUXA | - | - | - | - | 1 | Loss | - |
DVL2 | - | - | - | - | 1 | Loss | - |
DVL3 | - | - | - | - | 3 | Gain | - |
DYNC1H1 | p.S2681F | Missense | SNP | 0.498 | 2 | - | - |
DYNC1I1 | - | - | - | - | 3 | Gain | - |
DYNC1LI1 | - | - | - | - | 1 | Loss | - |
DZIP1L | p.P642L | Missense | SNP | 0.204 | 3 | Gain | - |
DZIP3 | - | - | - | - | 3 | Gain | - |
E2F5 | - | - | - | - | 5 | Amp | - |
E2F7 | p.E392K | Missense | SNP | 0.291 | 2 | - | - |
EAF1 | - | - | - | - | 1 | Loss | - |
EAF2 | - | - | - | - | 3 | Gain | - |
EBAG9 | - | - | - | - | 5 | Amp | - |
EBF1 | - | - | - | - | 1 | Loss | - |
EBI3 | - | - | - | - | 1 | Loss | - |
EBLN2 | - | - | - | - | 1 | Loss | - |
ECE2 | - | - | - | - | 3 | Gain | - |
ECM2 | - | - | - | - | 3 | Gain | - |
ECPAS | - | - | - | - | 3 | Gain | - |
ECSCR | - | - | - | - | 1 | Loss | - |
ECT2 | - | - | - | - | 3 | Gain | - |
EDEM1 | - | - | - | - | 1 | Loss | - |
EDF1 | - | - | - | - | 3 | Gain | - |
EEF1AKMT4 | - | - | - | - | 3 | Gain | - |
EEF1AKMT4-ECE2 | - | - | - | - | 3 | Gain | - |
EEF1D | - | - | - | - | 6 | Amp | - |
EEF2 | p.P810F | Missense | MNP | 0.230 | 1 | Loss | - |
EEFSEC | - | - | - | - | 3 | Gain | - |
EEPD1 | - | - | - | - | 3 | Gain | - |
EFCAB1 | - | - | - | - | 5 | Amp | - |
EFCAB10 | - | - | - | - | 3 | Gain | - |
EFCAB12 | - | - | - | - | 3 | Gain | - |
EFCAB2 | - | - | - | - | 3 | Gain | - |
EFCAB5 | p.P832L | Missense | SNP | 0.784 | 2 | - | - |
EFCAB8 | p.G281K | Missense | MNP | 0.582 | 2 | - | - |
EFCAB9 | - | - | - | - | 1 | Loss | - |
EFCC1 | - | - | - | - | 3 | Gain | - |
EFHB | p.K206* | Nonsense | SNP | 0.272 | 1 | Loss | - |
EFHC2 | p.Q224* | Nonsense | SNP | 1.000 | ND | ND | - |
EFNA2 | - | - | - | - | 1 | Loss | - |
EFNB3 | - | - | - | - | 1 | Loss | - |
EFR3A | - | - | - | - | 5 | Amp | - |
EGF | p.G344E | Missense | SNP | 0.370 | 2 | - | - |
EGFL7 | p.S226L | Missense | SNP | 0.472 | 3 | Gain | - |
EGFL8 | p.E205K | Missense | SNP | 0.993 | 2 | - | - |
EGFR | - | - | - | - | 3 | Gain | - |
EGR1 | - | - | - | - | 1 | Loss | - |
EGR2 | p.G275D | Missense | SNP | 0.511 | 2 | - | - |
EHBP1 | p.A1203V | Missense | SNP | 0.494 | 2 | - | - |
EHD2 | - | - | - | - | 1 | Loss | - |
EHHADH | - | - | - | - | 3 | Gain | - |
EHMT1 | - | - | - | - | 3 | Gain | - |
EIF1B | - | - | - | - | 1 | Loss | - |
EIF2A | - | - | - | - | 3 | Gain | - |
EIF2AK1 | - | - | - | - | 3 | Gain | - |
EIF2B5 | - | - | - | - | 3 | Gain | - |
EIF3B | - | - | - | - | 3 | Gain | - |
EIF3E | - | - | - | - | 5 | Amp | - |
EIF3H | - | - | - | - | 5 | Amp | - |
EIF4A1 | - | - | - | - | 1 | Loss | - |
EIF4A2 | - | - | - | - | 3 | Gain | - |
EIF4E1B | - | - | - | - | 1 | Loss | - |
EIF4E3 | - | - | - | - | 1 | Loss | - |
EIF4EBP3 | - | - | - | - | 1 | Loss | - |
EIF4G1 | p.Q217* | Nonsense | SNP | 0.274 | 3 | Gain | - |
EIF4H | - | - | - | - | 3 | Gain | - |
EIF5A | - | - | - | - | 1 | Loss | - |
EIF5A2 | - | - | - | - | 3 | Gain | - |
EIF5B | p.L838F | Missense | SNP | 0.515 | 2 | - | - |
ELAC2 | - | - | - | - | 1 | Loss | - |
ELANE | - | - | - | - | 1 | Loss | - |
ELAVL1 | - | - | - | - | 1 | Loss | - |
ELAVL2 | - | - | - | - | 1 | Loss | - |
ELAVL3 | p.G19D | Missense | SNP | 0.476 | 2 | - | - |
ELFN1 | - | - | - | - | 3 | Gain | - |
ELL | - | - | - | - | 1 | Loss | - |
ELMO1 | - | - | - | - | 3 | Gain | - |
ELN | - | - | - | - | 3 | Gain | - |
ELOC | - | - | - | - | 5 | Amp | - |
ELOVL7 | p.X131_splice | Splice_Site | SNP | 0.340 | 2 | - | - |
ELP1 | - | - | - | - | 3 | Gain | - |
ELP5 | - | - | - | - | 1 | Loss | - |
ELP6 | - | - | - | - | 1 | Loss | - |
ELSPBP1 | - | - | - | - | 1 | Loss | - |
EMC10 | - | - | - | - | 1 | Loss | - |
EMC2 | - | - | - | - | 5 | Amp | - |
EMC3 | - | - | - | - | 1 | Loss | - |
EMC6 | - | - | - | - | 1 | Loss | - |
EMILIN3 | p.A416T | Missense | SNP | 0.373 | 2 | - | - |
EML2 | - | - | - | - | 1 | Loss | - |
EML4 | p.G377S | Missense | SNP | 0.349 | 2 | - | - |
EML5 | p.G225E | Missense | SNP | 0.595 | 2 | - | - |
EMP3 | - | - | - | - | 1 | Loss | - |
EN2 | - | - | - | - | 3 | Gain | - |
ENDOG | - | - | - | - | 3 | Gain | - |
ENG | - | - | - | - | 3 | Gain | - |
ENGASE | p.P149S | Missense | SNP | 0.741 | 2 | - | - |
ENHO | - | - | - | - | 1 | Loss | - |
ENO3 | - | - | - | - | 1 | Loss | - |
ENOX1 | p.R297W | Missense | SNP | 0.439 | 2 | - | - |
ENPP2 | - | - | - | - | 5 | Amp | - |
ENPP6 | - | - | - | - | 1 | Loss | - |
ENTPD2 | - | - | - | - | 3 | Gain | - |
ENTPD3 | - | - | - | - | 1 | Loss | - |
ENTPD8 | - | - | - | - | 3 | Gain | - |
ENTR1 | - | - | - | - | 3 | Gain | - |
ENY2 | - | - | - | - | 5 | Amp | - |
EOGT | - | - | - | - | 1 | Loss | - |
EOMES | - | - | - | - | 1 | Loss | - |
EP400 | p.L1133F | Missense | SNP | 0.466 | 2 | - | - |
EPB41L3 | p.E447K | Missense | SNP | 0.512 | 2 | - | - |
EPB41L4B | - | - | - | - | 3 | Gain | - |
EPC2 | p.D395N | Missense | SNP | 0.513 | 2 | - | - |
EPDR1 | p.G141R | Missense | SNP | 0.583 | 3 | Gain | - |
EPHA1 | - | - | - | - | 3 | Gain | - |
EPHA3 | - | - | - | - | 1 | Loss | - |
EPHA6 | - | - | - | - | 3 | Gain | - |
EPHA7 | - | - | - | - | 1 | Loss | - |
EPHA8 | p.L197F | Missense | SNP | 0.459 | 2 | - | - |
EPHB1 | - | - | - | - | 3 | Gain | - |
EPHB3 | - | - | - | - | 3 | Gain | - |
EPHB4 | - | - | - | - | 3 | Gain | - |
EPHB6 | - | - | - | - | 3 | Gain | - |
EPM2AIP1 | - | - | - | - | 1 | Loss | - |
EPN2 | - | - | - | - | 1 | Loss | - |
EPO | - | - | - | - | 3 | Gain | - |
EPPK1 | - | - | - | - | 6 | Amp | - |
EPRS | p.G1475R | Missense | SNP | 0.579 | 2 | - | - |
EPS8L1 | p.M720I;p.E721K | Missense | MNP | 0.396 | 2 | - | - |
EPS8L3 | p.P236S | Missense | SNP | 0.428 | 2 | - | - |
EQTN | - | - | - | - | 1 | Loss | - |
ERC2 | - | - | - | - | 1 | Loss | - |
ERCC1 | p.A214V | Missense | SNP | 0.604 | 1 | Loss | - |
ERCC2 | - | - | - | - | 1 | Loss | - |
ERCC3 | p.K171N | Missense | SNP | 0.531 | 2 | - | - |
ERCC5 | p.E1135K | Missense | SNP | 0.385 | 2 | - | - |
ERCC6 | p.P221L | Missense | SNP | 0.431 | 2 | - | - |
ERCC6L2 | - | - | - | - | 3 | Gain | - |
ERGIC1 | - | - | - | - | 1 | Loss | - |
ERI3 | p.G44R | Missense | SNP | 0.444 | 2 | - | - |
ERICH3 | p.E474K | Missense | SNP | 0.554 | 2 | - | - |
ERICH5 | - | - | - | - | 5 | Amp | - |
ERICH6 | p.E251K | Missense | SNP | 0.714 | 3 | Gain | - |
ERLIN1 | p.L196F | Missense | SNP | 0.384 | 2 | - | - |
ERLIN2 | p.S12Y | Missense | SNP | 0.535 | 2 | - | - |
ERMP1 | - | - | - | - | 1 | Loss | - |
ERP44 | - | - | - | - | 3 | Gain | - |
ERV3-1 | - | - | - | - | 3 | Gain | - |
ERVV-1 | - | - | - | - | 1 | Loss | - |
ERVV-2 | - | - | - | - | 1 | Loss | - |
ESR1 | p.G20E | Missense | SNP | 0.366 | 2 | - | - |
ESRP1 | - | - | - | - | 5 | Amp | - |
ESYT2 | - | - | - | - | 3 | Gain | - |
ESYT3 | - | - | - | - | 3 | Gain | - |
ETF1 | - | - | - | - | 1 | Loss | - |
ETFB | - | - | - | - | 1 | Loss | - |
ETNPPL | p.P225L | Missense | SNP | 0.228 | 2 | - | - |
ETV1 | - | - | - | - | 3 | Gain | - |
ETV5 | - | - | - | - | 3 | Gain | - |
EVI5L | - | - | - | - | 1 | Loss | - |
EVPLL | - | - | - | - | 1 | Loss | - |
EVX1 | - | - | - | - | 3 | Gain | - |
EXD3 | - | - | - | - | 3 | Gain | - |
EXO1 | - | - | - | - | 3 | Gain | - |
EXOC3L2 | - | - | - | - | 1 | Loss | - |
EXOC4 | - | - | - | - | 3 | Gain | - |
EXOG | - | - | - | - | 1 | Loss | - |
EXOSC2 | - | - | - | - | 3 | Gain | - |
EXOSC3 | - | - | - | - | 1 | Loss | - |
EXOSC4 | - | - | - | - | 6 | Amp | - |
EXOSC7 | - | - | - | - | 1 | Loss | - |
EXT1 | - | - | - | - | 5 | Amp | - |
EYA1 | - | - | - | - | 5 | Amp | - |
EYS | p.P1631S p.Q844H | Missense Missense | SNP SNP | 0.555 0.411 | 2 | - | - |
EZH2 | - | - | - | - | 3 | Gain | - |
F11 | - | - | - | - | 1 | Loss | - |
F12 | - | - | - | - | 1 | Loss | - |
F13B | p.E394K | Missense | SNP | 0.526 | 2 | - | - |
FABP12 | - | - | - | - | 5 | Amp | - |
FABP4 | - | - | - | - | 5 | Amp | - |
FABP5 | - | - | - | - | 5 | Amp | - |
FABP9 | - | - | - | - | 5 | Amp | - |
FAF2 | - | - | - | - | 1 | Loss | - |
FAIM | - | - | - | - | 3 | Gain | - |
FAM102A | - | - | - | - | 3 | Gain | - |
FAM107A | - | - | - | - | 1 | Loss | - |
FAM110B | - | - | - | - | 5 | Amp | - |
FAM114A2 | - | - | - | - | 1 | Loss | - |
FAM120A | - | - | - | - | 3 | Gain | - |
FAM120AOS | - | - | - | - | 3 | Gain | - |
FAM122A | - | - | - | - | 3 | Gain | - |
FAM126A | - | - | - | - | 3 | Gain | - |
FAM129B | - | - | - | - | 3 | Gain | - |
FAM131A | - | - | - | - | 3 | Gain | - |
FAM131B | - | - | - | - | 3 | Gain | - |
FAM133B | - | - | - | - | 3 | Gain | - |
FAM134C | p.A266V | Missense | SNP | 0.167 | ND | ND | - |
FAM135B | p.E577K p.S11L | Missense Missense | SNP SNP | 0.177 0.281 | 5 | Amp | - |
FAM13B | - | - | - | - | 1 | Loss | - |
FAM149A | - | - | - | - | 1 | Loss | - |
FAM153A | - | - | - | - | 1 | Loss | - |
FAM153B | - | - | - | - | 1 | Loss | - |
FAM153C | - | - | - | - | 1 | Loss | - |
FAM155A | p.S403L | Missense | SNP | 0.318 | 2 | - | - |
FAM160A2 | p.P729S p.P728L | Missense Missense | SNP SNP | 0.466 0.472 | 2 | - | - |
FAM161A | p.R679K | Missense | SNP | 0.568 | 2 | - | - |
FAM162A | - | - | - | - | 3 | Gain | - |
FAM163B | - | - | - | - | 3 | Gain | - |
FAM166A | - | - | - | - | 3 | Gain | - |
FAM166B | - | - | - | - | 1 | Loss | - |
FAM170A | - | - | - | - | 1 | Loss | - |
FAM180A | - | - | - | - | 3 | Gain | - |
FAM185A | - | - | - | - | 3 | Gain | - |
FAM189A2 | - | - | - | - | 3 | Gain | - |
FAM193B | - | - | - | - | 1 | Loss | - |
FAM198A | - | - | - | - | 1 | Loss | - |
FAM19A1 | - | - | - | - | 1 | Loss | - |
FAM19A4 | - | - | - | - | 1 | Loss | - |
FAM200A | - | - | - | - | 3 | Gain | - |
FAM205A | - | - | - | - | 1 | Loss | - |
FAM205C | - | - | - | - | 1 | Loss | - |
FAM206A | - | - | - | - | 3 | Gain | - |
FAM208A | - | - | - | - | 1 | Loss | - |
FAM20C | - | - | - | - | 3 | Gain | - |
FAM214B | p.D164N | Missense | SNP | 1.000 | 1 | Loss | - |
FAM217B | p.P221L | Missense | SNP | 0.598 | 2 | - | - |
FAM219A | - | - | - | - | 1 | Loss | - |
FAM220A | - | - | - | - | 3 | Gain | - |
FAM221A | - | - | - | - | 3 | Gain | - |
FAM221B | - | - | - | - | 1 | Loss | - |
FAM240A | - | - | - | - | 1 | Loss | - |
FAM3C | - | - | - | - | 3 | Gain | - |
FAM3D | p.X108_splice | Splice_Site | SNP | 0.696 | 1 | Loss | - |
FAM43A | - | - | - | - | 3 | Gain | - |
FAM49B | - | - | - | - | 5 | Amp | - |
FAM53C | - | - | - | - | 1 | Loss | - |
FAM57A | - | - | - | - | 1 | Loss | - |
FAM65A | p.E1068Q | Missense | SNP | 0.413 | ND | ND | - |
FAM69B | - | - | - | - | 3 | Gain | - |
FAM71B | p.G322E p.P82S | Missense Missense | SNP SNP | 0.270 0.683 | 1 | Loss | - |
FAM71E1 | - | - | - | - | 1 | Loss | - |
FAM71F1 | - | - | - | - | 3 | Gain | - |
FAM71F2 | - | - | - | - | 3 | Gain | - |
FAM78A | - | - | - | - | 3 | Gain | - |
FAM81A | p.R188K | Missense | SNP | 0.463 | 2 | - | - |
FAM83A | - | - | - | - | 5 | Amp | - |
FAM83E | - | - | - | - | 1 | Loss | - |
FAM83G | - | - | - | - | 1 | Loss | - |
FAM83H | p.P627L | Missense | SNP | 0.712 | 6 | Amp | - |
FAM84B | - | - | - | - | 5 | Amp | - |
FAM91A1 | p.V587G | Missense | SNP | 0.200 | 5 | Amp | - |
FAM92A | - | - | - | - | 5 | Amp | - |
FAM92A1 | p.N171K | Missense | SNP | 0.761 | ND | ND | - |
FAM95C | - | - | - | - | 1 | Loss | - |
FAM9B | p.P31S | Missense | SNP | 1.000 | ND | ND | - |
FANCC | - | - | - | - | 3 | Gain | - |
FANCD2 | - | - | - | - | 1 | Loss | - |
FANCD2OS | - | - | - | - | 1 | Loss | - |
FANCE | p.S180F | Missense | SNP | 0.610 | 2 | - | - |
FANCG | - | - | - | - | 1 | Loss | - |
FAP | p.G218R | Missense | SNP | 0.505 | 2 | - | - |
FASTK | - | - | - | - | 3 | Gain | - |
FAT1 | p.G3953N p.D3414A p.E3391K | Missense Missense Missense | MNP SNP SNP | 0.398 0.597 0.400 | 1 | Loss | - |
FAT2 | - | - | - | - | 1 | Loss | - |
FAT3 | p.D934N p.Q1735E | Missense Missense | SNP SNP | 0.449 0.274 | 2 | - | - |
FAT4 | p.G3420E p.G3932E p.R4234Q p.S4602L p.P4693L p.G4901E | Missense Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP SNP | 0.315 0.580 0.328 0.630 0.338 0.295 | 2 | - | - |
FAXDC2 | - | - | - | - | 1 | Loss | - |
FBLL1 | - | - | - | - | 1 | Loss | - |
FBLN2 | - | - | - | - | 1 | Loss | - |
FBN2 | p.G289R | Missense | SNP | 0.271 | 1 | Loss | - |
FBN3 | p.G277R | Missense | SNP | 0.494 | 2 | - | - |
FBP1 | - | - | - | - | 3 | Gain | - |
FBP2 | - | - | - | - | 3 | Gain | - |
FBRS | p.P119L | Missense | SNP | 0.416 | 2 | - | - |
FBXL13 | - | - | - | - | 3 | Gain | - |
FBXL18 | - | - | - | - | 3 | Gain | - |
FBXL2 | - | - | - | - | 1 | Loss | - |
FBXL5 | p.D398N | Missense | SNP | 0.397 | 2 | - | - |
FBXL6 | - | - | - | - | 6 | Amp | - |
FBXO10 | p.S616N | Missense | SNP | 1.000 | 1 | Loss | - |
FBXO2 | p.W282* | Nonsense | SNP | 0.507 | 2 | - | - |
FBXO24 | - | - | - | - | 3 | Gain | - |
FBXO32 | - | - | - | - | 5 | Amp | - |
FBXO33 | p.E74K | Missense | SNP | 0.283 | 2 | - | - |
FBXO38 | p.D546N | Missense | SNP | 0.304 | 1 | Loss | - |
FBXO39 | - | - | - | - | 1 | Loss | - |
FBXO40 | - | - | - | - | 3 | Gain | - |
FBXO43 | - | - | - | - | 5 | Amp | - |
FBXO45 | - | - | - | - | 3 | Gain | - |
FBXO46 | - | - | - | - | 1 | Loss | - |
FBXO8 | - | - | - | - | 1 | Loss | - |
FBXW10 | - | - | - | - | 1 | Loss | - |
FBXW11 | - | - | - | - | 1 | Loss | - |
FBXW12 | - | - | - | - | 1 | Loss | - |
FBXW2 | - | - | - | - | 3 | Gain | - |
FBXW5 | - | - | - | - | 3 | Gain | - |
FCER2 | - | - | - | - | 1 | Loss | - |
FCGBP | p.E2242K p.H479Y | Missense Missense | SNP SNP | 0.329 0.505 | 2 | - | - |
FCGR2C | p.S80F | Missense | SNP | 0.385 | 2 | - | - |
FCGR3B | p.X229_splice | Splice_Site | SNP | 0.359 | 2 | - | - |
FCGRT | - | - | - | - | 1 | Loss | - |
FCHSD1 | - | - | - | - | 1 | Loss | - |
FCN1 | - | - | - | - | 3 | Gain | - |
FCN2 | p.P53S | Missense | SNP | 1.000 | 3 | Gain | - |
FCRL2 | p.P201S | Missense | SNP | 0.553 | 2 | - | - |
FCRL3 | p.H512Y | Missense | SNP | 0.383 | 2 | - | - |
FCRL5 | p.P573S p.S479F | Missense Missense | SNP SNP | 0.635 0.500 | 2 | - | - |
FCRL6 | p.M70I | Missense | SNP | 0.576 | 2 | - | - |
FEM1A | - | - | - | - | 1 | Loss | - |
FEM1C | - | - | - | - | 1 | Loss | - |
FER1L6 | p.R193K | Missense | SNP | 0.239 | 5 | Amp | - |
FERD3L | p.G40R | Missense | SNP | 0.581 | 3 | Gain | - |
FETUB | - | - | - | - | 3 | Gain | - |
FEZ2 | p.L225V | Missense | SNP | 0.421 | 2 | - | - |
FEZF1 | - | - | - | - | 3 | Gain | - |
FEZF2 | - | - | - | - | 1 | Loss | - |
FGA | p.G358R | Missense | SNP | 0.332 | 2 | - | - |
FGD3 | - | - | - | - | 3 | Gain | - |
FGD5 | - | - | - | - | 1 | Loss | - |
FGD6 | p.N919I | Missense | SNP | 0.560 | 2 | - | - |
FGF1 | - | - | - | - | 1 | Loss | - |
FGF11 | - | - | - | - | 1 | Loss | - |
FGF12 | - | - | - | - | 3 | Gain | - |
FGF18 | - | - | - | - | 1 | Loss | - |
FGF21 | p.G112E | Missense | SNP | 0.547 | 1 | Loss | - |
FGF22 | - | - | - | - | 1 | Loss | - |
FGF3 | p.R44W | Missense | SNP | 0.451 | 2 | - | - |
FGFR4 | - | - | - | - | 1 | Loss | - |
FGG | p.*454Lext*5 | Nonstop | SNP | 0.829 | 2 | - | - |
FGL2 | - | - | - | - | 3 | Gain | - |
FH | - | - | - | - | 3 | Gain | - |
FHDC1 | p.R164* | Nonsense | SNP | 0.600 | 2 | - | - |
FHIT | - | - | - | - | 1 | Loss | - |
FHL5 | p.S230C | Missense | SNP | 0.369 | 2 | - | - |
FHOD3 | p.S129F | Missense | SNP | 0.562 | 2 | - | - |
FIBCD1 | - | - | - | - | 3 | Gain | - |
FIGNL1 | - | - | - | - | 3 | Gain | - |
FILIP1 | p.E517K;p.M516I | Missense | MNP | 0.667 | 2 | - | - |
FILIP1L | - | - | - | - | 3 | Gain | - |
FIS1 | - | - | - | - | 3 | Gain | - |
FKBP14 | - | - | - | - | 3 | Gain | - |
FKBP15 | - | - | - | - | 3 | Gain | - |
FKBP6 | - | - | - | - | 3 | Gain | - |
FKBP7 | p.P115S | Missense | SNP | 0.526 | 2 | - | - |
FKBP8 | - | - | - | - | 1 | Loss | - |
FKBP9 | p.L562F | Missense | SNP | 0.391 | 3 | Gain | - |
FKRP | - | - | - | - | 1 | Loss | - |
FKTN | - | - | - | - | 3 | Gain | - |
FLCN | - | - | - | - | 1 | Loss | - |
FLG | p.S1764F p.R1110W p.S742C p.S702* | Missense Missense Missense Nonsense | SNP SNP SNP SNP | 0.448 0.595 0.180 0.167 | 3 | Gain | - |
FLG2 | p.G2145R | Missense | SNP | 0.440 | 3 | Gain | - |
FLII | - | - | - | - | 1 | Loss | - |
FLNB | - | - | - | - | 1 | Loss | - |
FLNC | p.A32S p.G1069S p.E2452K | Missense Missense Missense | SNP SNP SNP | 0.482 0.554 0.528 | 3 | Gain | - |
FLT3LG | - | - | - | - | 1 | Loss | - |
FLT4 | - | - | - | - | 1 | Loss | - |
FMC1 | - | - | - | - | 3 | Gain | - |
FMN2 | p.P897L p.R1544Q | Missense Missense | SNP SNP | 0.571 0.344 | 3 | Gain | - |
FMNL3 | p.K349T | Missense | SNP | 0.357 | 2 | - | - |
FN1 | p.E985K | Missense | SNP | 0.467 | 2 | - | - |
FNBP1 | - | - | - | - | 3 | Gain | - |
FNDC1 | p.E595K | Missense | SNP | 0.304 | 2 | - | - |
FNDC3B | - | - | - | - | 3 | Gain | - |
FNDC5 | p.E118K | Missense | SNP | 0.496 | 2 | - | - |
FNDC9 | - | - | - | - | 1 | Loss | - |
FNIP1 | - | - | - | - | 1 | Loss | - |
FNIP2 | p.L1059P | Missense | SNP | 0.699 | 2 | - | - |
FOCAD | - | - | - | - | 1 | Loss | - |
FOLH1 | - | - | - | - | 1 | Loss | - |
FOLR2 | p.D33N | Missense | SNP | 0.558 | 2 | - | - |
FOSB | - | - | - | - | 1 | Loss | - |
FOXA3 | - | - | - | - | 1 | Loss | - |
FOXB2 | - | - | - | - | 3 | Gain | - |
FOXD1 | p.P187S | Missense | SNP | 0.433 | 2 | - | - |
FOXD4L4 | - | - | - | - | 3 | Gain | - |
FOXE1 | - | - | - | - | 3 | Gain | - |
FOXH1 | - | - | - | - | 6 | Amp | - |
FOXI1 | - | - | - | - | 1 | Loss | - |
FOXJ1 | p.H352Y | Missense | SNP | 0.219 | 2 | - | - |
FOXK1 | - | - | - | - | 3 | Gain | - |
FOXL2 | - | - | - | - | 3 | Gain | - |
FOXL2NB | - | - | - | - | 3 | Gain | - |
FOXN3 | p.P95S | Missense | SNP | 0.513 | 2 | - | - |
FOXP1 | - | - | - | - | 1 | Loss | - |
FOXP2 | - | - | - | - | 3 | Gain | - |
FOXQ1 | p.S386* | Nonsense | SNP | 1.000 | 2 | - | - |
FOXR2 | p.G69E | Missense | SNP | 1.000 | ND | ND | - |
FPGS | - | - | - | - | 3 | Gain | - |
FPGT-TNNI3K | p.P284L | Missense | SNP | 0.405 | 2 | - | - |
FPR1 | - | - | - | - | 1 | Loss | - |
FPR2 | - | - | - | - | 1 | Loss | - |
FPR3 | - | - | - | - | 1 | Loss | - |
FRAS1 | p.P209L | Missense | SNP | 0.656 | 2 | - | - |
FRAT1 | p.E20K | Missense | SNP | 0.344 | 2 | - | - |
FREM1 | - | - | - | - | 1 | Loss | - |
FREM3 | p.N1381K | Missense | SNP | 0.649 | 2 | - | - |
FRG1 | - | - | - | - | 1 | Loss | - |
FRG2 | - | - | - | - | 1 | Loss | - |
FRG2C | p.R173Q | Missense | SNP | 0.407 | 1 | Loss | - |
FRMD3 | - | - | - | - | 3 | Gain | - |
FRMD4B | - | - | - | - | 1 | Loss | - |
FRMPD1 | - | - | - | - | 1 | Loss | - |
FRMPD3 | p.G1137E | Missense | SNP | 1.000 | ND | ND | - |
FRRS1L | - | - | - | - | 3 | Gain | - |
FRY | p.G989E | Missense | SNP | 0.458 | 2 | - | - |
FSBP | - | - | - | - | 5 | Amp | - |
FSCN1 | - | - | - | - | 3 | Gain | - |
FSCN3 | - | - | - | - | 3 | Gain | - |
FSD1 | - | - | - | - | 1 | Loss | - |
FSD1L | - | - | - | - | 3 | Gain | - |
FSHR | p.R634C | Missense | SNP | 0.503 | 2 | - | - |
FSIP2 | p.S5693F | Missense | SNP | 0.523 | 2 | - | - |
FSTL1 | - | - | - | - | 3 | Gain | - |
FSTL3 | - | - | - | - | 1 | Loss | - |
FSTL4 | - | - | - | - | 1 | Loss | - |
FTL | - | - | - | - | 1 | Loss | - |
FTMT | - | - | - | - | 1 | Loss | - |
FTO | p.P427L | Missense | SNP | 0.606 | 2 | - | - |
FUBP3 | - | - | - | - | 3 | Gain | - |
FUT1 | - | - | - | - | 1 | Loss | - |
FUT2 | - | - | - | - | 1 | Loss | - |
FUT3 | - | - | - | - | 1 | Loss | - |
FUT5 | - | - | - | - | 1 | Loss | - |
FUT6 | - | - | - | - | 1 | Loss | - |
FUT7 | - | - | - | - | 3 | Gain | - |
FUZ | - | - | - | - | 1 | Loss | - |
FXN | - | - | - | - | 3 | Gain | - |
FXR1 | - | - | - | - | 3 | Gain | - |
FXR2 | - | - | - | - | 1 | Loss | - |
FYB | p.P594S | Missense | SNP | 0.453 | ND | ND | - |
FYCO1 | - | - | - | - | 1 | Loss | - |
FYTTD1 | - | - | - | - | 3 | Gain | - |
FZD1 | - | - | - | - | 3 | Gain | - |
FZD6 | - | - | - | - | 5 | Amp | - |
FZD7 | p.E497K | Missense | SNP | 0.580 | 2 | - | - |
FZD9 | - | - | - | - | 3 | Gain | - |
FZR1 | - | - | - | - | 1 | Loss | - |
G0S2 | p.D88Y | Missense | SNP | 0.500 | 2 | - | - |
G3BP1 | - | - | - | - | 1 | Loss | - |
GAB3 | p.N41S | Missense | SNP | 1.000 | ND | ND | - |
GABARAP | - | - | - | - | 1 | Loss | - |
GABBR2 | - | - | - | - | 3 | Gain | - |
GABRA1 | - | - | - | - | 1 | Loss | - |
GABRA2 | p.R112L | Missense | SNP | 0.537 | 2 | - | - |
GABRA5 | p.E358K | Missense | SNP | 0.477 | 2 | - | - |
GABRA6 | - | - | - | - | 1 | Loss | - |
GABRB2 | - | - | - | - | 1 | Loss | - |
GABRG2 | - | - | - | - | 1 | Loss | - |
GABRP | p.E345K | Missense | SNP | 0.404 | 1 | Loss | - |
GABRQ | p.R316P | Missense | SNP | 1.000 | ND | ND | - |
GABRR1 | - | - | - | - | 1 | Loss | - |
GABRR2 | - | - | - | - | 1 | Loss | - |
GABRR3 | - | - | - | - | 3 | Gain | - |
GAD2 | p.G490E | Missense | SNP | 0.521 | 2 | - | - |
GADD45B | - | - | - | - | 1 | Loss | - |
GADD45G | - | - | - | - | 3 | Gain | - |
GADL1 | - | - | - | - | 1 | Loss | - |
GAL3ST4 | - | - | - | - | 3 | Gain | - |
GALK1 | p.S140F | Missense | SNP | 0.753 | 2 | - | - |
GALNT1 | p.E30K | Missense | SNP | 0.476 | 2 | - | - |
GALNT10 | - | - | - | - | 1 | Loss | - |
GALNT11 | - | - | - | - | 3 | Gain | - |
GALNT12 | - | - | - | - | 3 | Gain | - |
GALNT15 | - | - | - | - | 1 | Loss | - |
GALNT17 | - | - | - | - | 3 | Gain | - |
GALNT7 | - | - | - | - | 1 | Loss | - |
GALNTL5 | - | - | - | - | 3 | Gain | - |
GALNTL6 | - | - | - | - | 1 | Loss | - |
GALR2 | p.G374S | Missense | SNP | 0.720 | 2 | - | - |
GALT | - | - | - | - | 1 | Loss | - |
GAMT | - | - | - | - | 1 | Loss | - |
GAP43 | - | - | - | - | 3 | Gain | - |
GAPVD1 | p.P459S p.P845S | Missense Missense | SNP SNP | 0.333 1.000 | 3 | Gain | - |
GARNL3 | p.E925K | Missense | SNP | 0.353 | 3 | Gain | - |
GARS | - | - | - | - | 3 | Gain | - |
GAS1 | - | - | - | - | 3 | Gain | - |
GAS2 | p.G135S | Missense | SNP | 0.548 | 2 | - | - |
GAS7 | - | - | - | - | 1 | Loss | - |
GATA2 | - | - | - | - | 3 | Gain | - |
GATAD1 | - | - | - | - | 3 | Gain | - |
GATAD2A | - | - | - | - | 1 | Loss | - |
GATD3A | - | - | - | - | 1 | Loss | - |
GBA2 | - | - | - | - | 1 | Loss | - |
GBE1 | - | - | - | - | 1 | Loss | - |
GBGT1 | - | - | - | - | 3 | Gain | - |
GBX1 | - | - | - | - | 3 | Gain | - |
GCC1 | - | - | - | - | 3 | Gain | - |
GCK | - | - | - | - | 3 | Gain | - |
GCKR | p.P311L | Missense | SNP | 0.513 | 2 | - | - |
GCN1 | p.S2142F | Missense | SNP | 0.431 | 2 | - | - |
GCNT1 | - | - | - | - | 3 | Gain | - |
GCNT3 | p.L332F | Missense | SNP | 0.435 | 2 | - | - |
GCSAM | - | - | - | - | 3 | Gain | - |
GCSAML | - | - | - | - | 3 | Gain | - |
GCSAML-AS1 | - | - | - | - | 3 | Gain | - |
GDA | p.E52K | Missense | SNP | 0.192 | 3 | Gain | - |
GDAP1 | - | - | - | - | 5 | Amp | - |
GDF1 | - | - | - | - | 1 | Loss | - |
GDF15 | - | - | - | - | 1 | Loss | - |
GDF6 | - | - | - | - | 5 | Amp | - |
GDF9 | - | - | - | - | 1 | Loss | - |
GEM | - | - | - | - | 5 | Amp | - |
GEMIN4 | - | - | - | - | 1 | Loss | - |
GEMIN5 | - | - | - | - | 1 | Loss | - |
GEMIN7 | - | - | - | - | 1 | Loss | - |
GET4 | - | - | - | - | 3 | Gain | - |
GFER | p.D98N | Missense | SNP | 0.480 | 2 | - | - |
GFI1B | - | - | - | - | 3 | Gain | - |
GFM1 | p.P598T | Missense | SNP | 0.691 | 3 | Gain | - |
GFPT2 | - | - | - | - | 1 | Loss | - |
GFRA3 | - | - | - | - | 1 | Loss | - |
GFY | - | - | - | - | 1 | Loss | - |
GGCT | - | - | - | - | 3 | Gain | - |
GGH | p.M48I | Missense | SNP | 0.095 | 5 | Amp | - |
GGT6 | - | - | - | - | 1 | Loss | - |
GH1 | p.M196I | Missense | SNP | 0.293 | 2 | - | - |
GHRHR | - | - | - | - | 3 | Gain | - |
GHRL | - | - | - | - | 1 | Loss | - |
GHSR | - | - | - | - | 3 | Gain | - |
GID4 | - | - | - | - | 1 | Loss | - |
GIGYF1 | p.E701K | Missense | SNP | 0.495 | 3 | Gain | - |
GIMAP1 | - | - | - | - | 3 | Gain | - |
GIMAP1-GIMAP5 | - | - | - | - | 3 | Gain | - |
GIMAP2 | - | - | - | - | 3 | Gain | - |
GIMAP4 | - | - | - | - | 3 | Gain | - |
GIMAP5 | - | - | - | - | 3 | Gain | - |
GIMAP6 | - | - | - | - | 3 | Gain | - |
GIMAP7 | - | - | - | - | 3 | Gain | - |
GIMAP8 | - | - | - | - | 3 | Gain | - |
GINS4 | p.P41S | Missense | SNP | 0.563 | 2 | - | - |
GIPC3 | - | - | - | - | 1 | Loss | - |
GIPR | - | - | - | - | 1 | Loss | - |
GJA10 | - | - | - | - | 1 | Loss | - |
GJA4 | p.P319L | Missense | SNP | 0.327 | 2 | - | - |
GJC2 | - | - | - | - | 3 | Gain | - |
GJC3 | - | - | - | - | 3 | Gain | - |
GK5 | - | - | - | - | 3 | Gain | - |
GKAP1 | - | - | - | - | 3 | Gain | - |
GLB1 | - | - | - | - | 1 | Loss | - |
GLB1L3 | p.X501_splice p.E629K | Splice_Site Missense | SNP SNP | 0.500 0.457 | 2 | - | - |
GLCCI1 | - | - | - | - | 3 | Gain | - |
GLDC | - | - | - | - | 1 | Loss | - |
GLE1 | - | - | - | - | 3 | Gain | - |
GLI1 | p.P1063L | Missense | SNP | 0.474 | 2 | - | - |
GLI3 | p.S1551F | Missense | SNP | 0.472 | 3 | Gain | - |
GLI4 | - | - | - | - | 6 | Amp | - |
GLIPR2 | - | - | - | - | 1 | Loss | - |
GLIS3 | - | - | - | - | 1 | Loss | - |
GLOD4 | p.X278_splice | Splice_Site | SNP | 0.200 | 1 | Loss | - |
GLP2R | - | - | - | - | 1 | Loss | - |
GLRA1 | - | - | - | - | 1 | Loss | - |
GLRA3 | - | - | - | - | 1 | Loss | - |
GLT6D1 | - | - | - | - | 3 | Gain | - |
GLT8D1 | p.R363K | Missense | SNP | 0.615 | 1 | Loss | - |
GLTPD2 | - | - | - | - | 1 | Loss | - |
GLTSCR1 | p.P1013S | Missense | SNP | 0.300 | ND | ND | - |
GLYCTK | - | - | - | - | 1 | Loss | - |
GM2A | - | - | - | - | 1 | Loss | - |
GMCL2 | - | - | - | - | 1 | Loss | - |
GMEB2 | p.P368S | Missense | SNP | 0.467 | 2 | - | - |
GMIP | - | - | - | - | 1 | Loss | - |
GML | - | - | - | - | 6 | Amp | - |
GMNC | - | - | - | - | 3 | Gain | - |
GMPPB | - | - | - | - | 1 | Loss | - |
GMPR | p.X219_splice | Splice_Site | SNP | 0.994 | 2 | - | - |
GMPS | - | - | - | - | 3 | Gain | - |
GNA11 | - | - | - | - | 1 | Loss | - |
GNA12 | - | - | - | - | 3 | Gain | - |
GNA14 | - | - | - | - | 3 | Gain | - |
GNA15 | - | - | - | - | 1 | Loss | - |
GNAI1 | - | - | - | - | 3 | Gain | - |
GNAI2 | - | - | - | - | 1 | Loss | - |
GNAQ | - | - | - | - | 3 | Gain | - |
GNAS | p.E24K | Missense | SNP | 0.339 | 2 | - | - |
GNAT1 | - | - | - | - | 1 | Loss | - |
GNAT3 | - | - | - | - | 3 | Gain | - |
GNB1L | p.G255E | Missense | SNP | 0.419 | 2 | - | - |
GNB2 | - | - | - | - | 3 | Gain | - |
GNB4 | - | - | - | - | 3 | Gain | - |
GNE | - | - | - | - | 1 | Loss | - |
GNG10 | - | - | - | - | 3 | Gain | - |
GNG11 | - | - | - | - | 3 | Gain | - |
GNG7 | - | - | - | - | 1 | Loss | - |
GNG8 | - | - | - | - | 1 | Loss | - |
GNGT1 | - | - | - | - | 3 | Gain | - |
GNL3 | - | - | - | - | 1 | Loss | - |
GNPDA1 | - | - | - | - | 1 | Loss | - |
GOLGA1 | - | - | - | - | 3 | Gain | - |
GOLGA2 | - | - | - | - | 3 | Gain | - |
GOLGA4 | - | - | - | - | 1 | Loss | - |
GOLGB1 | p.L2319P | Missense | SNP | 0.659 | 3 | Gain | - |
GOLIM4 | - | - | - | - | 3 | Gain | - |
GOLM1 | - | - | - | - | 3 | Gain | - |
GORASP1 | - | - | - | - | 1 | Loss | - |
GP1BA | - | - | - | - | 1 | Loss | - |
GP2 | p.H221L | Missense | SNP | 0.413 | 2 | - | - |
GP5 | - | - | - | - | 3 | Gain | - |
GP9 | - | - | - | - | 3 | Gain | - |
GPAA1 | - | - | - | - | 6 | Amp | - |
GPC2 | - | - | - | - | 3 | Gain | - |
GPC6 | p.E82K | Missense | SNP | 0.394 | 2 | - | - |
GPCPD1 | p.S431F | Missense | SNP | 0.674 | 2 | - | - |
GPD1L | - | - | - | - | 1 | Loss | - |
GPER1 | - | - | - | - | 3 | Gain | - |
GPHN | p.P196S | Missense | SNP | 0.391 | 2 | - | - |
GPIHBP1 | - | - | - | - | 6 | Amp | - |
GPM6A | - | - | - | - | 1 | Loss | - |
GPNMB | - | - | - | - | 3 | Gain | - |
GPR107 | - | - | - | - | 3 | Gain | - |
GPR108 | - | - | - | - | 1 | Loss | - |
GPR141 | - | - | - | - | 3 | Gain | - |
GPR146 | - | - | - | - | 3 | Gain | - |
GPR149 | p.G294E | Missense | SNP | 0.291 | 3 | Gain | - |
GPR15 | - | - | - | - | 3 | Gain | - |
GPR151 | - | - | - | - | 1 | Loss | - |
GPR156 | - | - | - | - | 3 | Gain | - |
GPR160 | - | - | - | - | 3 | Gain | - |
GPR171 | - | - | - | - | 3 | Gain | - |
GPR176 | p.S432F | Missense | SNP | 0.477 | 2 | - | - |
GPR179 | p.P2229Q | Missense | SNP | 0.179 | 2 | - | - |
GPR20 | - | - | - | - | 6 | Amp | - |
GPR21 | - | - | - | - | 3 | Gain | - |
GPR22 | - | - | - | - | 3 | Gain | - |
GPR27 | - | - | - | - | 1 | Loss | - |
GPR32 | - | - | - | - | 1 | Loss | - |
GPR37 | - | - | - | - | 3 | Gain | - |
GPR4 | - | - | - | - | 1 | Loss | - |
GPR62 | - | - | - | - | 1 | Loss | - |
GPR85 | - | - | - | - | 3 | Gain | - |
GPR87 | - | - | - | - | 3 | Gain | - |
GPRASP1 | p.D1250E | Missense | SNP | 1.000 | ND | ND | - |
GPRC5B | p.E390K | Missense | SNP | 0.599 | 2 | - | - |
GPRC5D | p.E307K | Missense | SNP | 0.394 | 2 | - | - |
GPRIN1 | - | - | - | - | 1 | Loss | - |
GPRIN2 | p.R380G | Missense | SNP | 0.139 | 2 | - | - |
GPS2 | - | - | - | - | 1 | Loss | - |
GPSM1 | p.P449L | Missense | SNP | 1.000 | 3 | Gain | - |
GPT | - | - | - | - | 6 | Amp | - |
GPX1 | - | - | - | - | 1 | Loss | - |
GPX3 | - | - | - | - | 1 | Loss | - |
GPX4 | - | - | - | - | 1 | Loss | - |
GRAMD1A | p.P200L | Missense | SNP | 0.522 | 2 | - | - |
GRAMD1C | - | - | - | - | 3 | Gain | - |
GRAMD2B | - | - | - | - | 1 | Loss | - |
GRAP | - | - | - | - | 1 | Loss | - |
GRAPL | - | - | - | - | 1 | Loss | - |
GRB10 | - | - | - | - | 3 | Gain | - |
GREB1 | p.Q669H | Missense | SNP | 0.542 | 2 | - | - |
GREM2 | p.E51K | Missense | SNP | 0.311 | 3 | Gain | - |
GRHL1 | p.S259L | Missense | SNP | 0.545 | 2 | - | - |
GRHL2 | - | - | - | - | 5 | Amp | - |
GRHPR | p.R99* | Nonsense | SNP | 0.994 | 1 | Loss | - |
GRIA1 | - | - | - | - | 1 | Loss | - |
GRID2IP | - | - | - | - | 3 | Gain | - |
GRIFIN | - | - | - | - | 3 | Gain | - |
GRIK1 | p.W135* | Nonsense | SNP | 0.556 | 2 | - | - |
GRIK2 | p.G486E p.S885L | Missense Missense | SNP SNP | 0.360 0.515 | 2 | - | - |
GRIN1 | - | - | - | - | 3 | Gain | - |
GRIN2B | p.T1358P | Missense | SNP | 0.493 | 2 | - | - |
GRIN2D | - | - | - | - | 1 | Loss | - |
GRIN3A | - | - | - | - | 3 | Gain | - |
GRIN3B | - | - | - | - | 1 | Loss | - |
GRINA | - | - | - | - | 6 | Amp | - |
GRIP2 | - | - | - | - | 1 | Loss | - |
GRK6 | - | - | - | - | 1 | Loss | - |
GRK7 | - | - | - | - | 3 | Gain | - |
GRM2 | - | - | - | - | 1 | Loss | - |
GRM3 | - | - | - | - | 3 | Gain | - |
GRM4 | p.R425C | Missense | SNP | 1.000 | 2 | - | - |
GRM6 | - | - | - | - | 1 | Loss | - |
GRM7 | - | - | - | - | 1 | Loss | - |
GRM8 | p.R343Q | Missense | SNP | 0.407 | 3 | Gain | - |
GRPEL2 | - | - | - | - | 1 | Loss | - |
GRWD1 | - | - | - | - | 1 | Loss | - |
GRXCR2 | - | - | - | - | 1 | Loss | - |
GSAP | - | - | - | - | 3 | Gain | - |
GSDMC | - | - | - | - | 5 | Amp | - |
GSDMD | - | - | - | - | 6 | Amp | - |
GSDME | - | - | - | - | 3 | Gain | - |
GSG1L2 | - | - | - | - | 1 | Loss | - |
GSK3B | - | - | - | - | 3 | Gain | - |
GSN | - | - | - | - | 3 | Gain | - |
GSTK1 | p.P275L | Missense | SNP | 1.000 | 3 | Gain | - |
GTF2E1 | - | - | - | - | 3 | Gain | - |
GTF2F1 | - | - | - | - | 1 | Loss | - |
GTF2I | - | - | - | - | 3 | Gain | - |
GTF2IRD1 | - | - | - | - | 3 | Gain | - |
GTF2IRD2 | - | - | - | - | 3 | Gain | - |
GTF2IRD2B | - | - | - | - | 3 | Gain | - |
GTF3C4 | - | - | - | - | 3 | Gain | - |
GTF3C5 | - | - | - | - | 3 | Gain | - |
GTPBP10 | - | - | - | - | 3 | Gain | - |
GTPBP8 | - | - | - | - | 3 | Gain | - |
GUCA1C | - | - | - | - | 3 | Gain | - |
GUCY1A2 | p.D470N | Missense | SNP | 0.466 | 2 | - | - |
GUCY2D | - | - | - | - | 1 | Loss | - |
GUK1 | - | - | - | - | 3 | Gain | - |
GUSB | - | - | - | - | 3 | Gain | - |
GXYLT2 | p.D147Y | Missense | SNP | 0.648 | 1 | Loss | - |
GYG1 | - | - | - | - | 3 | Gain | - |
GYS1 | - | - | - | - | 1 | Loss | - |
GYS2 | p.E36K | Missense | SNP | 0.256 | 2 | - | - |
GZMM | - | - | - | - | 1 | Loss | - |
H1FOO | - | - | - | - | 3 | Gain | - |
H1FX | p.P161S | Missense | SNP | 0.720 | 3 | Gain | - |
H2AFV | - | - | - | - | 3 | Gain | - |
H2AFY | - | - | - | - | 1 | Loss | - |
HABP4 | - | - | - | - | 3 | Gain | - |
HACD2 | - | - | - | - | 3 | Gain | - |
HACD4 | - | - | - | - | 1 | Loss | - |
HACL1 | - | - | - | - | 1 | Loss | - |
HAND1 | - | - | - | - | 1 | Loss | - |
HAND2 | - | - | - | - | 1 | Loss | - |
HAPLN3 | p.S91N | Missense | SNP | 0.523 | 2 | - | - |
HAPLN4 | - | - | - | - | 1 | Loss | - |
HARBI1 | p.H347Y | Missense | SNP | 0.355 | 2 | - | - |
HARS | p.G298S | Missense | SNP | 0.536 | 1 | Loss | - |
HARS2 | - | - | - | - | 1 | Loss | - |
HAS1 | - | - | - | - | 1 | Loss | - |
HAS2 | - | - | - | - | 5 | Amp | - |
HASPIN | - | - | - | - | 1 | Loss | - |
HAUS6 | - | - | - | - | 1 | Loss | - |
HAVCR1 | - | - | - | - | 1 | Loss | - |
HAVCR2 | - | - | - | - | 1 | Loss | - |
HBEGF | - | - | - | - | 1 | Loss | - |
HBP1 | - | - | - | - | 3 | Gain | - |
HCLS1 | - | - | - | - | 3 | Gain | - |
HCN1 | p.S599L p.S56F | Missense Missense | SNP SNP | 0.358 0.446 | 2 | - | - |
HCN2 | - | - | - | - | 1 | Loss | - |
HDAC1 | p.G219D | Missense | SNP | 0.478 | 2 | - | - |
HDAC11 | - | - | - | - | 1 | Loss | - |
HDAC3 | - | - | - | - | 1 | Loss | - |
HDAC4 | p.A245T | Missense | SNP | 0.534 | 2 | - | - |
HDAC5 | p.P228L | Missense | SNP | 0.629 | 2 | - | - |
HDAC9 | - | - | - | - | 3 | Gain | - |
HDGFL2 | - | - | - | - | 1 | Loss | - |
HDHD3 | - | - | - | - | 3 | Gain | - |
HEATR4 | p.E679K | Missense | SNP | 0.494 | 2 | - | - |
HEATR9 | p.D251N | Missense | SNP | 0.713 | 2 | - | - |
HECTD1 | p.P2216T | Missense | SNP | 0.537 | 2 | - | - |
HECW1 | - | - | - | - | 3 | Gain | - |
HEG1 | - | - | - | - | 3 | Gain | - |
HELT | - | - | - | - | 1 | Loss | - |
HELZ | p.R295C | Missense | SNP | 0.729 | 2 | - | - |
HEMGN | - | - | - | - | 3 | Gain | - |
HEMK1 | - | - | - | - | 1 | Loss | - |
HEPACAM2 | - | - | - | - | 3 | Gain | - |
HEPH | p.G97R | Missense | SNP | 1.000 | ND | ND | - |
HEPHL1 | p.W866* | Nonsense | SNP | 0.457 | 2 | - | - |
HERPUD2 | - | - | - | - | 3 | Gain | - |
HES1 | - | - | - | - | 3 | Gain | - |
HES7 | - | - | - | - | 1 | Loss | - |
HESX1 | - | - | - | - | 1 | Loss | - |
HEY1 | - | - | - | - | 5 | Amp | - |
HFM1 | p.P839T | Missense | SNP | 0.579 | 2 | - | - |
HGD | - | - | - | - | 3 | Gain | - |
HGF | - | - | - | - | 3 | Gain | - |
HGH1 | - | - | - | - | 6 | Amp | - |
HHATL | - | - | - | - | 1 | Loss | - |
HHLA1 | - | - | - | - | 5 | Amp | - |
HHLA2 | p.G203R | Missense | SNP | 0.718 | 3 | Gain | - |
HIBADH | - | - | - | - | 3 | Gain | - |
HIC1 | - | - | - | - | 1 | Loss | - |
HIF3A | - | - | - | - | 1 | Loss | - |
HIGD2A | - | - | - | - | 1 | Loss | - |
HILPDA | - | - | - | - | 3 | Gain | - |
HINT1 | - | - | - | - | 1 | Loss | - |
HINT2 | - | - | - | - | 1 | Loss | - |
HIP1 | - | - | - | - | 3 | Gain | - |
HIPK2 | - | - | - | - | 3 | Gain | - |
HIST2H2AB | p.P81L | Missense | SNP | 0.418 | 2 | - | - |
HIVEP3 | p.P17L | Missense | SNP | 0.509 | 2 | - | - |
HK3 | - | - | - | - | 1 | Loss | - |
HLTF | - | - | - | - | 3 | Gain | - |
HMCES | - | - | - | - | 3 | Gain | - |
HMCN2 | - | - | - | - | 3 | Gain | - |
HMG20B | - | - | - | - | 1 | Loss | - |
HMGB2 | - | - | - | - | 1 | Loss | - |
HMGXB3 | - | - | - | - | 1 | Loss | - |
HMHB1 | - | - | - | - | 1 | Loss | - |
HMMR | - | - | - | - | 1 | Loss | - |
HNF4G | - | - | - | - | 5 | Amp | - |
HNRNPA0 | - | - | - | - | 1 | Loss | - |
HNRNPA2B1 | - | - | - | - | 3 | Gain | - |
HNRNPAB | - | - | - | - | 1 | Loss | - |
HNRNPC | p.P116L | Missense | SNP | 0.534 | 2 | - | - |
HNRNPH1 | - | - | - | - | 1 | Loss | - |
HNRNPK | p.P354L | Missense | SNP | 0.667 | 3 | Gain | - |
HNRNPU | - | - | - | - | 3 | Gain | - |
HOMER2 | p.S216F | Missense | SNP | 0.481 | 2 | - | - |
HOMER3 | - | - | - | - | 1 | Loss | - |
HOXA1 | - | - | - | - | 3 | Gain | - |
HOXA10 | - | - | - | - | 3 | Gain | - |
HOXA11 | - | - | - | - | 3 | Gain | - |
HOXA13 | - | - | - | - | 3 | Gain | - |
HOXA2 | - | - | - | - | 3 | Gain | - |
HOXA3 | - | - | - | - | 3 | Gain | - |
HOXA4 | - | - | - | - | 3 | Gain | - |
HOXA5 | - | - | - | - | 3 | Gain | - |
HOXA6 | - | - | - | - | 3 | Gain | - |
HOXA7 | - | - | - | - | 3 | Gain | - |
HOXA9 | - | - | - | - | 3 | Gain | - |
HOXB2 | p.V294D | Missense | SNP | 0.192 | 2 | - | - |
HOXD8 | p.P262S | Missense | SNP | 0.588 | 2 | - | - |
HPF1 | - | - | - | - | 1 | Loss | - |
HPGD | - | - | - | - | 1 | Loss | - |
HPS3 | - | - | - | - | 3 | Gain | - |
HRASLS | - | - | - | - | 3 | Gain | - |
HRC | - | - | - | - | 1 | Loss | - |
HRCT1 | - | - | - | - | 1 | Loss | - |
HRG | - | - | - | - | 3 | Gain | - |
HRH1 | - | - | - | - | 1 | Loss | - |
HRH2 | - | - | - | - | 1 | Loss | - |
HRNR | - | - | - | - | 3 | Gain | - |
HS3ST3A1 | - | - | - | - | 1 | Loss | - |
HS3ST3B1 | - | - | - | - | 1 | Loss | - |
HS3ST5 | p.E167* | Nonsense | SNP | 0.575 | 2 | - | - |
HSD11B1L | - | - | - | - | 1 | Loss | - |
HSD17B13 | p.P180S | Missense | SNP | 0.309 | 2 | - | - |
HSD17B14 | - | - | - | - | 1 | Loss | - |
HSD17B3 | - | - | - | - | 3 | Gain | - |
HSD17B4 | - | - | - | - | 1 | Loss | - |
HSD3B2 | p.E142K | Missense | SNP | 0.517 | 2 | - | - |
HSDL2 | - | - | - | - | 3 | Gain | - |
HSF1 | - | - | - | - | 6 | Amp | - |
HSF5 | p.P15S | Missense | SNP | 0.715 | 2 | - | - |
HSPA4 | - | - | - | - | 1 | Loss | - |
HSPA5 | - | - | - | - | 3 | Gain | - |
HSPA9 | - | - | - | - | 1 | Loss | - |
HSPB1 | - | - | - | - | 3 | Gain | - |
HSPBAP1 | - | - | - | - | 3 | Gain | - |
HSPG2 | p.T3290I p.S2544F p.G1905D | Missense Missense Missense | SNP SNP SNP | 0.478 0.397 0.329 | 2 | - | - |
HTD2 | - | - | - | - | 1 | Loss | - |
HTR1F | - | - | - | - | 1 | Loss | - |
HTR3C | - | - | - | - | 3 | Gain | - |
HTR3D | - | - | - | - | 3 | Gain | - |
HTR3E | - | - | - | - | 3 | Gain | - |
HTR4 | - | - | - | - | 1 | Loss | - |
HTR5A | - | - | - | - | 3 | Gain | - |
HTRA2 | - | - | - | - | 1 | Loss | - |
HTT | p.P2531L | Missense | SNP | 0.582 | 2 | - | - |
HUS1 | - | - | - | - | 3 | Gain | - |
HUWE1 | p.D2630N | Missense | SNP | 1.000 | ND | ND | - |
HYAL1 | - | - | - | - | 1 | Loss | - |
HYAL2 | - | - | - | - | 1 | Loss | - |
HYAL3 | - | - | - | - | 1 | Loss | - |
HYAL4 | - | - | - | - | 3 | Gain | - |
HYDIN | p.E4112K p.E2544K | Missense Missense | SNP SNP | 0.369 0.484 | 2 | - | - |
HYOU1 | p.A225V | Missense | SNP | 0.557 | 2 | - | - |
IARS | - | - | - | - | 3 | Gain | - |
IBA57 | - | - | - | - | 3 | Gain | - |
IBTK | p.S422* p.T154I | Nonsense Missense | SNP SNP | 0.647 0.643 | 2 | - | - |
ICA1 | - | - | - | - | 3 | Gain | - |
ICAM5 | p.P756S | Missense | SNP | 0.548 | 2 | - | - |
IDNK | - | - | - | - | 3 | Gain | - |
IER5L | - | - | - | - | 3 | Gain | - |
IFNA1 | - | - | - | - | 1 | Loss | - |
IFNA10 | - | - | - | - | 1 | Loss | - |
IFNA13 | - | - | - | - | 1 | Loss | - |
IFNA14 | - | - | - | - | 1 | Loss | - |
IFNA16 | - | - | - | - | 1 | Loss | - |
IFNA17 | - | - | - | - | 1 | Loss | - |
IFNA2 | - | - | - | - | 1 | Loss | - |
IFNA21 | - | - | - | - | 1 | Loss | - |
IFNA4 | - | - | - | - | 1 | Loss | - |
IFNA5 | - | - | - | - | 1 | Loss | - |
IFNA6 | - | - | - | - | 1 | Loss | - |
IFNA7 | - | - | - | - | 1 | Loss | - |
IFNA8 | - | - | - | - | 1 | Loss | - |
IFNB1 | - | - | - | - | 1 | Loss | - |
IFNE | - | - | - | - | 1 | Loss | - |
IFNK | - | - | - | - | 1 | Loss | - |
IFNW1 | - | - | - | - | 1 | Loss | - |
IFRD1 | - | - | - | - | 3 | Gain | - |
IFRD2 | - | - | - | - | 1 | Loss | - |
IFT122 | - | - | - | - | 3 | Gain | - |
IFT140 | p.S986F | Missense | SNP | 0.364 | 2 | - | - |
IFT22 | - | - | - | - | 3 | Gain | - |
IFT57 | - | - | - | - | 3 | Gain | - |
IFT74 | - | - | - | - | 1 | Loss | - |
IFT80 | - | - | - | - | 3 | Gain | - |
IFT81 | p.R87C | Missense | SNP | 0.601 | 2 | - | - |
IGDCC3 | p.G700E | Missense | SNP | 0.389 | 2 | - | - |
IGF2BP2 | - | - | - | - | 3 | Gain | - |
IGF2BP3 | - | - | - | - | 3 | Gain | - |
IGF2R | p.S304F p.P2198L | Missense Missense | SNP SNP | 0.386 0.318 | 2 | - | - |
IGFBP1 | - | - | - | - | 3 | Gain | - |
IGFBP3 | - | - | - | - | 3 | Gain | - |
IGFBPL1 | - | - | - | - | 1 | Loss | - |
IGFL1 | - | - | - | - | 1 | Loss | - |
IGFL2 | - | - | - | - | 1 | Loss | - |
IGFL3 | - | - | - | - | 1 | Loss | - |
IGFL4 | - | - | - | - | 1 | Loss | - |
IGHV3-20 | p.W72* | Nonsense | SNP | 1.000 | ND | ND | - |
IGHV3-49 | p.E2K | Missense | SNP | 0.558 | ND | ND | - |
IGHV3-66 | p.R57C | Missense | SNP | 0.103 | ND | ND | - |
IGIP | - | - | - | - | 1 | Loss | - |
IGLON5 | - | - | - | - | 1 | Loss | - |
IGLV3-27 | p.P33S | Missense | SNP | 0.458 | ND | ND | - |
IGSF1 | p.P1248S p.D941N | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
IGSF10 | - | - | - | - | 3 | Gain | - |
IGSF11 | - | - | - | - | 3 | Gain | - |
IGSF6 | - | - | - | - | 1 | Loss | - |
IK | - | - | - | - | 1 | Loss | - |
IKZF1 | - | - | - | - | 3 | Gain | - |
IKZF3 | p.S378F | Missense | SNP | 0.722 | 2 | - | - |
IL11RA | p.P247S | Missense | SNP | 1.000 | 1 | Loss | - |
IL12A | - | - | - | - | 3 | Gain | - |
IL12B | - | - | - | - | 1 | Loss | - |
IL13 | - | - | - | - | 1 | Loss | - |
IL17B | - | - | - | - | 1 | Loss | - |
IL17RB | - | - | - | - | 1 | Loss | - |
IL17RC | - | - | - | - | 1 | Loss | - |
IL17RD | - | - | - | - | 1 | Loss | - |
IL17RE | p.P572L | Missense | SNP | 0.623 | 1 | Loss | - |
IL1RAP | - | - | - | - | 3 | Gain | - |
IL20RB | - | - | - | - | 3 | Gain | - |
IL2RA | p.Q118* | Nonsense | SNP | 0.537 | 2 | - | - |
IL2RG | p.G339E | Missense | SNP | 1.000 | ND | ND | - |
IL3 | - | - | - | - | 1 | Loss | - |
IL33 | - | - | - | - | 1 | Loss | - |
IL36B | p.S28F | Missense | SNP | 0.531 | 2 | - | - |
IL4 | - | - | - | - | 1 | Loss | - |
IL4I1 | - | - | - | - | 1 | Loss | - |
IL5 | - | - | - | - | 1 | Loss | - |
IL5RA | - | - | - | - | 1 | Loss | - |
IL6 | - | - | - | - | 3 | Gain | - |
IL7 | - | - | - | - | 5 | Amp | - |
IL9 | - | - | - | - | 1 | Loss | - |
ILDR1 | - | - | - | - | 3 | Gain | - |
IMMP2L | - | - | - | - | 3 | Gain | - |
IMPA1 | - | - | - | - | 5 | Amp | - |
IMPAD1 | - | - | - | - | 5 | Amp | - |
IMPDH1 | - | - | - | - | 3 | Gain | - |
IMPDH2 | - | - | - | - | 1 | Loss | - |
IMPG2 | - | - | - | - | 3 | Gain | - |
INAFM1 | - | - | - | - | 1 | Loss | - |
INCA1 | - | - | - | - | 1 | Loss | - |
ING2 | - | - | - | - | 1 | Loss | - |
ING3 | - | - | - | - | 3 | Gain | - |
INHBA | p.S389L | Missense | SNP | 0.444 | 3 | Gain | - |
INIP | - | - | - | - | 3 | Gain | - |
INKA1 | - | - | - | - | 1 | Loss | - |
INMT | - | - | - | - | 3 | Gain | - |
INMT-MINDY4 | - | - | - | - | 3 | Gain | - |
INO80B | - | - | - | - | 1 | Loss | - |
INO80B-WBP1 | - | - | - | - | 1 | Loss | - |
INPP5E | p.H126Y | Missense | SNP | 0.331 | 3 | Gain | - |
INPP5K | - | - | - | - | 1 | Loss | - |
INPPL1 | p.S1229N | Missense | SNP | 0.437 | 2 | - | - |
INSIG1 | - | - | - | - | 3 | Gain | - |
INSL4 | - | - | - | - | 1 | Loss | - |
INSL6 | - | - | - | - | 1 | Loss | - |
INSM2 | p.G63R | Missense | SNP | 0.483 | 2 | - | - |
INSR | - | - | - | - | 1 | Loss | - |
INSYN2B | - | - | - | - | 1 | Loss | - |
INTS1 | - | - | - | - | 3 | Gain | - |
INTS8 | - | - | - | - | 5 | Amp | - |
INVS | - | - | - | - | 3 | Gain | - |
IP6K1 | - | - | - | - | 1 | Loss | - |
IP6K2 | - | - | - | - | 1 | Loss | - |
IPO13 | p.S462F | Missense | SNP | 0.389 | 2 | - | - |
IPPK | - | - | - | - | 3 | Gain | - |
IQANK1 | - | - | - | - | 6 | Amp | - |
IQCB1 | - | - | - | - | 3 | Gain | - |
IQCE | - | - | - | - | 3 | Gain | - |
IQCF1 | - | - | - | - | 1 | Loss | - |
IQCF2 | - | - | - | - | 1 | Loss | - |
IQCF3 | - | - | - | - | 1 | Loss | - |
IQCF5 | - | - | - | - | 1 | Loss | - |
IQCF6 | - | - | - | - | 1 | Loss | - |
IQCG | - | - | - | - | 3 | Gain | - |
IQCJ | - | - | - | - | 3 | Gain | - |
IQCJ-SCHIP1 | - | - | - | - | 3 | Gain | - |
IQSEC1 | - | - | - | - | 1 | Loss | - |
IQUB | p.P781L p.S614F | Missense Missense | SNP SNP | 0.566 0.252 | 3 | Gain | - |
IRAK2 | - | - | - | - | 1 | Loss | - |
IRF1 | - | - | - | - | 1 | Loss | - |
IRF2 | - | - | - | - | 1 | Loss | - |
IRF2BP1 | - | - | - | - | 1 | Loss | - |
IRF3 | - | - | - | - | 1 | Loss | - |
IRF5 | - | - | - | - | 3 | Gain | - |
IRGM | - | - | - | - | 1 | Loss | - |
IRGQ | p.P548L | Missense | SNP | 0.469 | 2 | - | - |
IRS1 | p.G298E | Missense | SNP | 0.447 | 2 | - | - |
ISCA1 | - | - | - | - | 3 | Gain | - |
ISOC1 | - | - | - | - | 1 | Loss | - |
ISPD | - | - | - | - | 3 | Gain | - |
ISY1 | - | - | - | - | 3 | Gain | - |
ISY1-RAB43 | - | - | - | - | 3 | Gain | - |
ISYNA1 | p.E232K | Missense | SNP | 0.433 | 1 | Loss | - |
ITFG1 | p.P144A | Missense | SNP | 0.216 | 2 | - | - |
ITGA10 | p.Q540* p.P412S | Nonsense Missense | SNP SNP | 0.582 0.467 | 2 | - | - |
ITGA2B | p.S789F p.G277E | Missense Missense | SNP SNP | 0.228 0.750 | 2 | - | - |
ITGA4 | p.W148* | Nonsense | SNP | 0.443 | 2 | - | - |
ITGA9 | - | - | - | - | 1 | Loss | - |
ITGAD | p.D310N | Missense | SNP | 0.396 | 2 | - | - |
ITGAE | - | - | - | - | 1 | Loss | - |
ITGAL | p.X241_splice | Splice_Site | SNP | 0.388 | 2 | - | - |
ITGB3 | p.E78D | Missense | SNP | 0.196 | 2 | - | - |
ITGB5 | p.F190L | Missense | SNP | 0.117 | 3 | Gain | - |
ITGB8 | - | - | - | - | 3 | Gain | - |
ITIH1 | p.S363F | Missense | SNP | 0.288 | 1 | Loss | - |
ITIH3 | - | - | - | - | 1 | Loss | - |
ITIH4 | - | - | - | - | 1 | Loss | - |
ITIH5 | p.G216R | Missense | SNP | 0.509 | 2 | - | - |
ITIH6 | p.R421K | Missense | SNP | 1.000 | ND | ND | - |
ITK | - | - | - | - | 1 | Loss | - |
ITPR1 | - | - | - | - | 1 | Loss | - |
ITPR2 | p.P338L | Missense | SNP | 0.468 | 2 | - | - |
ITPRID1 | - | - | - | - | 3 | Gain | - |
ITPRIP | p.P130S | Missense | SNP | 0.526 | 2 | - | - |
ITPRIPL1 | p.G111E | Missense | SNP | 0.454 | 2 | - | - |
ITSN2 | p.R1659* p.P1108S | Nonsense Missense | SNP SNP | 0.644 0.405 | 2 | - | - |
IZUMO1 | - | - | - | - | 1 | Loss | - |
IZUMO2 | - | - | - | - | 1 | Loss | - |
IZUMO3 | - | - | - | - | 1 | Loss | - |
IZUMO4 | - | - | - | - | 1 | Loss | - |
JADE2 | - | - | - | - | 1 | Loss | - |
JAGN1 | - | - | - | - | 1 | Loss | - |
JAK1 | p.D1039N | Missense | SNP | 0.493 | 2 | - | - |
JAK2 | - | - | - | - | 1 | Loss | - |
JAKMIP2 | - | - | - | - | 1 | Loss | - |
JAML | p.G210R | Missense | SNP | 0.481 | 2 | - | - |
JAZF1 | - | - | - | - | 3 | Gain | - |
JMJD8 | p.E222D | Missense | SNP | 0.209 | 2 | - | - |
JOSD2 | - | - | - | - | 1 | Loss | - |
JPH1 | p.D389N | Missense | SNP | 0.204 | 5 | Amp | - |
JPH3 | p.R216W | Missense | SNP | 0.591 | 2 | - | - |
JRK | - | - | - | - | 6 | Amp | - |
JSRP1 | - | - | - | - | 1 | Loss | - |
JUND | - | - | - | - | 1 | Loss | - |
KALRN | p.P713L | Missense | SNP | 0.208 | 3 | Gain | - |
KANK1 | - | - | - | - | 1 | Loss | - |
KAT2B | - | - | - | - | 1 | Loss | - |
KBTBD12 | - | - | - | - | 3 | Gain | - |
KBTBD2 | - | - | - | - | 3 | Gain | - |
KBTBD8 | - | - | - | - | 1 | Loss | - |
KCNA4 | p.A341T | Missense | SNP | 0.533 | 2 | - | - |
KCNA5 | p.A566T | Missense | SNP | 0.435 | 2 | - | - |
KCNA6 | p.F28L p.E129* | Missense Nonsense | SNP SNP | 0.490 0.264 | 2 | - | - |
KCNA7 | - | - | - | - | 1 | Loss | - |
KCNAB1 | - | - | - | - | 3 | Gain | - |
KCNAB3 | - | - | - | - | 1 | Loss | - |
KCNB2 | - | - | - | - | 5 | Amp | - |
KCNC3 | - | - | - | - | 1 | Loss | - |
KCND2 | - | - | - | - | 3 | Gain | - |
KCNG4 | p.S408F | Missense | SNP | 0.427 | 2 | - | - |
KCNH2 | p.R541C | Missense | SNP | 0.517 | 3 | Gain | - |
KCNH6 | p.T465K | Missense | SNP | 0.232 | 2 | - | - |
KCNH8 | p.E780K | Missense | SNP | 0.706 | 1 | Loss | - |
KCNIP1 | p.G38E | Missense | SNP | 0.725 | 1 | Loss | - |
KCNIP3 | p.F88L | Missense | SNP | 0.504 | 2 | - | - |
KCNJ14 | - | - | - | - | 1 | Loss | - |
KCNJ8 | p.G417E | Missense | SNP | 0.541 | 2 | - | - |
KCNK15 | p.P265S | Missense | SNP | 0.596 | 2 | - | - |
KCNK18 | p.E305K | Missense | SNP | 0.519 | 2 | - | - |
KCNK9 | - | - | - | - | 5 | Amp | - |
KCNMB1 | - | - | - | - | 1 | Loss | - |
KCNMB2 | - | - | - | - | 3 | Gain | - |
KCNMB3 | - | - | - | - | 3 | Gain | - |
KCNMB4 | p.D139N | Missense | SNP | 0.610 | 2 | - | - |
KCNN2 | - | - | - | - | 1 | Loss | - |
KCNQ1 | p.R583C | Missense | SNP | 0.480 | 2 | - | - |
KCNQ3 | p.E414K | Missense | SNP | 0.252 | 5 | Amp | - |
KCNS2 | . | Splice_Site | SNP | 0.246 | 5 | Amp | - |
KCNT1 | - | - | - | - | 3 | Gain | - |
KCNT2 | p.D757N p.G731R p.G89E | Missense Missense Missense | SNP SNP SNP | 0.556 0.449 0.524 | 2 | - | - |
KCNV1 | - | - | - | - | 5 | Amp | - |
KCNV2 | - | - | - | - | 1 | Loss | - |
KCP | p.P589L | Missense | SNP | 0.418 | 3 | Gain | - |
KCTD11 | - | - | - | - | 1 | Loss | - |
KCTD16 | - | - | - | - | 1 | Loss | - |
KCTD4 | p.D56N | Missense | SNP | 0.508 | 2 | - | - |
KCTD6 | - | - | - | - | 1 | Loss | - |
KCTD7 | - | - | - | - | 3 | Gain | - |
KDELR1 | - | - | - | - | 1 | Loss | - |
KDELR2 | - | - | - | - | 3 | Gain | - |
KDF1 | p.E238K | Missense | SNP | 0.556 | 2 | - | - |
KDM3B | - | - | - | - | 1 | Loss | - |
KDM4B | - | - | - | - | 1 | Loss | - |
KDM4C | - | - | - | - | 1 | Loss | - |
KDM5B | p.P905L | Missense | SNP | 0.546 | 2 | - | - |
KDM5C | p.P701S | Missense | SNP | 1.000 | ND | ND | - |
KDM6B | - | - | - | - | 1 | Loss | - |
KDM7A | - | - | - | - | 3 | Gain | - |
KDR | p.P149L | Missense | SNP | 0.361 | 2 | - | - |
KEAP1 | p.R354Q | Missense | SNP | 0.190 | 2 | - | - |
KEL | - | - | - | - | 3 | Gain | - |
KHDRBS3 | - | - | - | - | 5 | Amp | - |
KHSRP | - | - | - | - | 1 | Loss | - |
KIAA0753 | - | - | - | - | 1 | Loss | - |
KIAA0895 | p.D420N | Missense | SNP | 0.442 | 3 | Gain | - |
KIAA1024 | p.P377L | Missense | SNP | 0.569 | 2 | - | - |
KIAA1024L | - | - | - | - | 1 | Loss | - |
KIAA1109 | p.P1848S | Missense | SNP | 0.270 | 2 | - | - |
KIAA1143 | - | - | - | - | 1 | Loss | - |
KIAA1147 | - | - | - | - | 3 | Gain | - |
KIAA1191 | - | - | - | - | 1 | Loss | - |
KIAA1217 | p.R88Q p.T815I | Missense Missense | SNP SNP | 0.464 0.517 | 2 | - | - |
KIAA1257 | - | - | - | - | 3 | Gain | - |
KIAA1324L | - | - | - | - | 3 | Gain | - |
KIAA1429 | p.P1667S | Missense | SNP | 0.180 | ND | ND | - |
KIAA1549 | p.F1114S | Missense | SNP | 1.000 | 3 | Gain | - |
KIAA1614 | p.W327* | Nonsense | SNP | 0.579 | 2 | - | - |
KIAA1683 | p.A521T | Missense | SNP | 0.296 | ND | ND | - |
KIAA1958 | - | - | - | - | 3 | Gain | - |
KIAA2026 | - | - | - | - | 1 | Loss | - |
KIF12 | - | - | - | - | 3 | Gain | - |
KIF15 | - | - | - | - | 1 | Loss | - |
KIF1C | - | - | - | - | 1 | Loss | - |
KIF20A | - | - | - | - | 1 | Loss | - |
KIF21B | p.A904V | Missense | SNP | 0.549 | 2 | - | - |
KIF24 | - | - | - | - | 1 | Loss | - |
KIF26A | p.P1177L | Missense | SNP | 0.453 | 2 | - | - |
KIF26B | - | - | - | - | 3 | Gain | - |
KIF27 | - | - | - | - | 3 | Gain | - |
KIF2B | p.S104L | Missense | SNP | 0.210 | 2 | - | - |
KIF3A | - | - | - | - | 1 | Loss | - |
KIF4B | - | - | - | - | 1 | Loss | - |
KIF9 | - | - | - | - | 1 | Loss | - |
KIFC2 | - | - | - | - | 6 | Amp | - |
KIR2DL1 | p.D78N | Missense | SNP | 0.250 | 1 | Loss | - |
KIR2DL3 | - | - | - | - | 1 | Loss | - |
KIR2DL4 | - | - | - | - | 1 | Loss | - |
KIR3DL2 | p.D387N | Missense | SNP | 0.370 | 2 | - | - |
KIR3DL3 | - | - | - | - | 1 | Loss | - |
KIRREL2 | p.D68N | Missense | SNP | 0.554 | 2 | - | - |
KISS1R | - | - | - | - | 1 | Loss | - |
KLC3 | - | - | - | - | 1 | Loss | - |
KLF10 | - | - | - | - | 5 | Amp | - |
KLF14 | - | - | - | - | 3 | Gain | - |
KLF15 | - | - | - | - | 3 | Gain | - |
KLF16 | - | - | - | - | 1 | Loss | - |
KLF4 | - | - | - | - | 3 | Gain | - |
KLF7 | p.K299E p.E46K | Missense Missense | SNP SNP | 0.576 0.384 | 2 | - | - |
KLF9 | - | - | - | - | 3 | Gain | - |
KLHDC10 | - | - | - | - | 3 | Gain | - |
KLHDC7A | p.W612* | Nonsense | SNP | 0.408 | 2 | - | - |
KLHDC8A | p.M312I p.P45S | Missense Missense | SNP SNP | 0.308 0.461 | 2 | - | - |
KLHDC8B | p.E310K | Missense | SNP | 0.342 | 1 | Loss | - |
KLHL11 | p.W534* | Nonsense | SNP | 0.236 | 2 | - | - |
KLHL18 | p.S285F | Missense | SNP | 0.318 | 1 | Loss | - |
KLHL2 | p.D555N | Missense | SNP | 0.307 | 2 | - | - |
KLHL24 | - | - | - | - | 3 | Gain | - |
KLHL25 | p.L22F | Missense | SNP | 0.396 | 2 | - | - |
KLHL26 | - | - | - | - | 1 | Loss | - |
KLHL29 | p.K802Rfs*19 | Frame_Shift_Ins | INS | 0.283 | 2 | - | - |
KLHL3 | - | - | - | - | 1 | Loss | - |
KLHL38 | - | - | - | - | 5 | Amp | - |
KLHL40 | - | - | - | - | 1 | Loss | - |
KLHL6 | - | - | - | - | 3 | Gain | - |
KLHL7 | - | - | - | - | 3 | Gain | - |
KLHL9 | - | - | - | - | 1 | Loss | - |
KLK1 | - | - | - | - | 1 | Loss | - |
KLK10 | - | - | - | - | 1 | Loss | - |
KLK11 | - | - | - | - | 1 | Loss | - |
KLK12 | - | - | - | - | 1 | Loss | - |
KLK13 | - | - | - | - | 1 | Loss | - |
KLK14 | - | - | - | - | 1 | Loss | - |
KLK15 | - | - | - | - | 1 | Loss | - |
KLK2 | - | - | - | - | 1 | Loss | - |
KLK3 | - | - | - | - | 1 | Loss | - |
KLK4 | p.W8* | Nonsense | SNP | 0.582 | 1 | Loss | - |
KLK5 | - | - | - | - | 1 | Loss | - |
KLK6 | - | - | - | - | 1 | Loss | - |
KLK7 | - | - | - | - | 1 | Loss | - |
KLK8 | - | - | - | - | 1 | Loss | - |
KLK9 | - | - | - | - | 1 | Loss | - |
KLKB1 | - | - | - | - | 1 | Loss | - |
KLRG2 | - | - | - | - | 3 | Gain | - |
KMO | - | - | - | - | 3 | Gain | - |
KMT2C | - | - | - | - | 3 | Gain | - |
KMT2D | p.P4082F p.P3139L p.Q429* | Missense Missense Nonsense | MNP SNP SNP | 0.442 0.343 0.628 | 2 | - | - |
KMT2E | - | - | - | - | 3 | Gain | - |
KNG1 | - | - | - | - | 3 | Gain | - |
KPNA1 | - | - | - | - | 3 | Gain | - |
KPNA4 | - | - | - | - | 3 | Gain | - |
KPNA7 | - | - | - | - | 3 | Gain | - |
KPTN | - | - | - | - | 1 | Loss | - |
KRBA1 | - | - | - | - | 3 | Gain | - |
KRBA2 | - | - | - | - | 1 | Loss | - |
KRBOX1 | - | - | - | - | 1 | Loss | - |
KRIT1 | - | - | - | - | 3 | Gain | - |
KRT1 | p.S338F | Missense | SNP | 0.516 | 2 | - | - |
KRT25 | p.G55R | Missense | SNP | 0.179 | 2 | - | - |
KRT3 | p.A449T | Missense | SNP | 0.485 | 2 | - | - |
KRT36 | p.E308K | Missense | SNP | 0.844 | 2 | - | - |
KRTAP10-12 | p.S241Y | Missense | SNP | 0.460 | 2 | - | - |
KRTAP13-3 | p.G16E | Missense | SNP | 0.505 | 2 | - | - |
KRTAP16-1 | p.T21A | Missense | SNP | 0.770 | 2 | - | - |
KRTAP19-7 | p.G20S | Missense | SNP | 0.433 | 2 | - | - |
KRTAP26-1 | p.L98F | Missense | SNP | 0.435 | 2 | - | - |
KRTAP4-5 | p.R32K | Missense | SNP | 0.700 | 2 | - | - |
KRTAP4-6 | p.R76K | Missense | SNP | 0.731 | 2 | - | - |
KXD1 | - | - | - | - | 1 | Loss | - |
KY | - | - | - | - | 3 | Gain | - |
KYAT1 | - | - | - | - | 3 | Gain | - |
L3MBTL1 | p.G111E | Missense | SNP | 0.408 | 2 | - | - |
LACTB2 | - | - | - | - | 5 | Amp | - |
LAIR1 | p.Q17K | Missense | SNP | 0.380 | 1 | Loss | - |
LAIR2 | - | - | - | - | 1 | Loss | - |
LAMA1 | p.G1589R | Missense | SNP | 0.500 | 2 | - | - |
LAMA4 | p.S989F p.E873K | Missense Missense | SNP SNP | 0.526 0.400 | 2 | - | - |
LAMA5 | p.A2729T p.E1773D p.P1458S | Missense Missense Missense | SNP SNP SNP | 0.313 0.516 0.496 | 2 | - | - |
LAMB1 | - | - | - | - | 3 | Gain | - |
LAMB2 | - | - | - | - | 1 | Loss | - |
LAMB4 | - | - | - | - | 3 | Gain | - |
LAMC3 | p.P181L p.P676L p.A964T | Missense Missense Missense | SNP SNP SNP | 0.294 0.311 1.000 | 3 | Gain | - |
LAMP3 | - | - | - | - | 3 | Gain | - |
LAMTOR4 | - | - | - | - | 3 | Gain | - |
LANCL2 | - | - | - | - | 3 | Gain | - |
LAPTM4B | - | - | - | - | 5 | Amp | - |
LARP1 | - | - | - | - | 1 | Loss | - |
LARP1B | p.R739C | Missense | SNP | 0.600 | 2 | - | - |
LARS | - | - | - | - | 1 | Loss | - |
LARS2 | - | - | - | - | 1 | Loss | - |
LAT2 | - | - | - | - | 3 | Gain | - |
LBP | p.M362I | Missense | SNP | 0.395 | 2 | - | - |
LBX2 | - | - | - | - | 1 | Loss | - |
LCE1F | p.G50N | Missense | MNP | 0.580 | 2 | - | - |
LCE6A | p.R55K | Missense | SNP | 0.587 | 2 | - | - |
LCN1 | - | - | - | - | 3 | Gain | - |
LCN10 | - | - | - | - | 3 | Gain | - |
LCN12 | - | - | - | - | 3 | Gain | - |
LCN15 | - | - | - | - | 3 | Gain | - |
LCN2 | - | - | - | - | 3 | Gain | - |
LCN6 | - | - | - | - | 3 | Gain | - |
LCN8 | - | - | - | - | 3 | Gain | - |
LCN9 | - | - | - | - | 3 | Gain | - |
LCNL1 | - | - | - | - | 3 | Gain | - |
LCP2 | - | - | - | - | 1 | Loss | - |
LDB3 | p.G14S | Missense | SNP | 0.569 | 2 | - | - |
LEAP2 | - | - | - | - | 1 | Loss | - |
LECT2 | - | - | - | - | 1 | Loss | - |
LEKR1 | - | - | - | - | 3 | Gain | - |
LENG1 | - | - | - | - | 1 | Loss | - |
LENG8 | - | - | - | - | 1 | Loss | - |
LENG9 | - | - | - | - | 1 | Loss | - |
LEP | - | - | - | - | 3 | Gain | - |
LFNG | - | - | - | - | 3 | Gain | - |
LGALS9C | - | - | - | - | 1 | Loss | - |
LHB | - | - | - | - | 1 | Loss | - |
LHFPL3 | - | - | - | - | 3 | Gain | - |
LHFPL4 | - | - | - | - | 1 | Loss | - |
LHX2 | - | - | - | - | 3 | Gain | - |
LHX3 | - | - | - | - | 3 | Gain | - |
LHX6 | - | - | - | - | 3 | Gain | - |
LIG1 | - | - | - | - | 1 | Loss | - |
LILRA1 | - | - | - | - | 1 | Loss | - |
LILRA2 | p.K78N | Missense | SNP | 0.572 | 1 | Loss | - |
LILRA4 | - | - | - | - | 1 | Loss | - |
LILRA5 | - | - | - | - | 1 | Loss | - |
LILRA6 | - | - | - | - | 1 | Loss | - |
LILRB1 | - | - | - | - | 1 | Loss | - |
LILRB2 | - | - | - | - | 1 | Loss | - |
LILRB3 | - | - | - | - | 1 | Loss | - |
LILRB4 | - | - | - | - | 1 | Loss | - |
LILRB5 | - | - | - | - | 1 | Loss | - |
LIM2 | - | - | - | - | 1 | Loss | - |
LIMD1 | - | - | - | - | 1 | Loss | - |
LIMK1 | - | - | - | - | 3 | Gain | - |
LIMK2 | p.S510F | Missense | SNP | 0.217 | 2 | - | - |
LIN7B | - | - | - | - | 1 | Loss | - |
LINGO1 | p.A282V | Missense | SNP | 0.507 | 2 | - | - |
LINGO2 | - | - | - | - | 1 | Loss | - |
LINGO3 | - | - | - | - | 1 | Loss | - |
LINGO4 | p.G78R | Missense | SNP | 0.469 | 2 | - | - |
LIPH | - | - | - | - | 3 | Gain | - |
LLCFC1 | - | - | - | - | 3 | Gain | - |
LLGL1 | - | - | - | - | 1 | Loss | - |
LLGL2 | p.E360K | Missense | SNP | 0.759 | 2 | - | - |
LMAN2 | - | - | - | - | 1 | Loss | - |
LMBR1 | - | - | - | - | 3 | Gain | - |
LMCD1 | - | - | - | - | 1 | Loss | - |
LMLN | - | - | - | - | 3 | Gain | - |
LMNB1 | - | - | - | - | 1 | Loss | - |
LMNB2 | - | - | - | - | 1 | Loss | - |
LMOD2 | - | - | - | - | 3 | Gain | - |
LMOD3 | - | - | - | - | 1 | Loss | - |
LMTK2 | - | - | - | - | 3 | Gain | - |
LMTK3 | p.G1331S | Missense | SNP | 0.354 | 1 | Loss | - |
LMX1B | - | - | - | - | 3 | Gain | - |
LNP1 | - | - | - | - | 3 | Gain | - |
LONP1 | p.G446N | Missense | MNP | 0.314 | 1 | Loss | - |
LOX | - | - | - | - | 1 | Loss | - |
LOXL3 | - | - | - | - | 1 | Loss | - |
LPAR1 | - | - | - | - | 3 | Gain | - |
LPAR2 | - | - | - | - | 1 | Loss | - |
LPIN1 | p.S552F | Missense | SNP | 0.533 | 2 | - | - |
LPP | - | - | - | - | 3 | Gain | - |
LRCH3 | - | - | - | - | 3 | Gain | - |
LRCH4 | - | - | - | - | 3 | Gain | - |
LRFN2 | p.S758F | Missense | SNP | 0.371 | 2 | - | - |
LRFN4 | p.E241K | Missense | SNP | 0.483 | 2 | - | - |
LRFN5 | p.S665F | Missense | SNP | 0.424 | 2 | - | - |
LRG1 | p.R312C | Missense | SNP | 0.717 | 1 | Loss | - |
LRGUK | - | - | - | - | 3 | Gain | - |
LRIG1 | - | - | - | - | 1 | Loss | - |
LRP1 | p.D2270N | Missense | SNP | 0.429 | 2 | - | - |
LRP12 | - | - | - | - | 5 | Amp | - |
LRP1B | p.G2473R | Missense | SNP | 0.433 | 2 | - | - |
LRP2 | p.R2095Q | Missense | SNP | 0.441 | 2 | - | - |
LRP2BP | - | - | - | - | 1 | Loss | - |
LRP5 | p.S1487F | Missense | SNP | 0.479 | 2 | - | - |
LRR1 | p.S378F | Missense | SNP | 0.440 | 2 | - | - |
LRRC10 | p.E168K | Missense | SNP | 0.393 | 2 | - | - |
LRRC14 | - | - | - | - | 6 | Amp | - |
LRRC15 | - | - | - | - | 3 | Gain | - |
LRRC17 | - | - | - | - | 3 | Gain | - |
LRRC19 | - | - | - | - | 1 | Loss | - |
LRRC2 | - | - | - | - | 1 | Loss | - |
LRRC24 | - | - | - | - | 6 | Amp | - |
LRRC25 | - | - | - | - | 1 | Loss | - |
LRRC26 | p.S5Y | Missense | SNP | 0.295 | 3 | Gain | - |
LRRC31 | - | - | - | - | 3 | Gain | - |
LRRC34 | - | - | - | - | 3 | Gain | - |
LRRC36 | p.L529F p.A567T | Missense Missense | SNP SNP | 0.298 0.660 | 2 | - | - |
LRRC3B | - | - | - | - | 1 | Loss | - |
LRRC4 | - | - | - | - | 3 | Gain | - |
LRRC4B | - | - | - | - | 1 | Loss | - |
LRRC4C | p.S631Y | Missense | SNP | 0.551 | 2 | - | - |
LRRC53 | p.G688E | Missense | SNP | 0.523 | 2 | - | - |
LRRC58 | - | - | - | - | 3 | Gain | - |
LRRC6 | - | - | - | - | 5 | Amp | - |
LRRC61 | - | - | - | - | 3 | Gain | - |
LRRC69 | p.G293R | Missense | SNP | 0.262 | 5 | Amp | - |
LRRC7 | p.K115N p.G1469E | Missense Missense | SNP SNP | 0.487 0.534 | 2 | - | - |
LRRC72 | - | - | - | - | 3 | Gain | - |
LRRC75A | - | - | - | - | 1 | Loss | - |
LRRC8A | - | - | - | - | 3 | Gain | - |
LRRC8E | - | - | - | - | 1 | Loss | - |
LRRCC1 | - | - | - | - | 5 | Amp | - |
LRRD1 | - | - | - | - | 3 | Gain | - |
LRRFIP2 | - | - | - | - | 1 | Loss | - |
LRRIQ4 | - | - | - | - | 3 | Gain | - |
LRRK2 | p.S2325F | Missense | SNP | 0.469 | 2 | - | - |
LRRN1 | - | - | - | - | 1 | Loss | - |
LRRN3 | - | - | - | - | 3 | Gain | - |
LRRTM2 | - | - | - | - | 1 | Loss | - |
LRSAM1 | - | - | - | - | 3 | Gain | - |
LRTM1 | - | - | - | - | 1 | Loss | - |
LRWD1 | - | - | - | - | 3 | Gain | - |
LSAMP | - | - | - | - | 3 | Gain | - |
LSG1 | - | - | - | - | 3 | Gain | - |
LSM11 | - | - | - | - | 1 | Loss | - |
LSM3 | - | - | - | - | 1 | Loss | - |
LSM4 | - | - | - | - | 1 | Loss | - |
LSM5 | - | - | - | - | 3 | Gain | - |
LSM7 | - | - | - | - | 1 | Loss | - |
LSM8 | - | - | - | - | 3 | Gain | - |
LSMEM1 | - | - | - | - | 3 | Gain | - |
LSMEM2 | - | - | - | - | 1 | Loss | - |
LTA4H | p.P456S | Missense | SNP | 0.441 | 2 | - | - |
LTC4S | - | - | - | - | 1 | Loss | - |
LTF | - | - | - | - | 1 | Loss | - |
LUC7L2 | - | - | - | - | 3 | Gain | - |
LURAP1L | - | - | - | - | 1 | Loss | - |
LUZP6 | - | - | - | - | 3 | Gain | - |
LVRN | - | - | - | - | 1 | Loss | - |
LXN | - | - | - | - | 3 | Gain | - |
LY6D | - | - | - | - | 6 | Amp | - |
LY6E | - | - | - | - | 6 | Amp | - |
LY6H | - | - | - | - | 6 | Amp | - |
LY6K | - | - | - | - | 6 | Amp | - |
LY6L | - | - | - | - | 6 | Amp | - |
LY96 | - | - | - | - | 5 | Amp | - |
LYN | - | - | - | - | 5 | Amp | - |
LYNX1 | - | - | - | - | 6 | Amp | - |
LYNX1-SLURP2 | - | - | - | - | 6 | Amp | - |
LYPD2 | - | - | - | - | 6 | Amp | - |
LYPD6 | p.F50I | Missense | SNP | 0.537 | 2 | - | - |
LYPD8 | - | - | - | - | 3 | Gain | - |
LYPLA1 | - | - | - | - | 5 | Amp | - |
LYRM2 | - | - | - | - | 1 | Loss | - |
LYRM7 | - | - | - | - | 1 | Loss | - |
LYST | p.R2957* p.P215L | Nonsense Missense | SNP SNP | 0.556 0.418 | 2 | - | - |
LYZL4 | p.D37N | Missense | SNP | 0.279 | 1 | Loss | - |
LZTFL1 | - | - | - | - | 1 | Loss | - |
MAATS1 | - | - | - | - | 3 | Gain | - |
MACC1 | - | - | - | - | 3 | Gain | - |
MACF1 | p.E4394K p.S5268Y | Missense Missense | SNP SNP | 0.500 0.473 | 2 | - | - |
MAD1L1 | - | - | - | - | 3 | Gain | - |
MADCAM1 | - | - | - | - | 1 | Loss | - |
MAF1 | - | - | - | - | 6 | Amp | - |
MAFA | - | - | - | - | 6 | Amp | - |
MAFK | - | - | - | - | 3 | Gain | - |
MAGEB18 | p.M156L p.P215S | Missense Missense | SNP SNP | 0.983 1.000 | ND | ND | - |
MAGEB6P1 | p.S43F | Missense | SNP | 1.000 | ND | ND | - |
MAGEC2 | p.S51F | Missense | SNP | 1.000 | ND | ND | - |
MAGEF1 | - | - | - | - | 3 | Gain | - |
MAGEL2 | p.G374* | Nonsense | SNP | 0.407 | 2 | - | - |
MAGI1 | - | - | - | - | 1 | Loss | - |
MAGI2 | - | - | - | - | 3 | Gain | - |
MAL2 | - | - | - | - | 5 | Amp | - |
MALRD1 | p.S1609F | Missense | SNP | 0.511 | 2 | - | - |
MALSU1 | - | - | - | - | 3 | Gain | - |
MAMDC2 | - | - | - | - | 3 | Gain | - |
MAMDC4 | - | - | - | - | 3 | Gain | - |
MAML1 | p.E256K | Missense | SNP | 0.406 | 1 | Loss | - |
MAMSTR | - | - | - | - | 1 | Loss | - |
MAN1B1 | - | - | - | - | 3 | Gain | - |
MANEA | - | - | - | - | 1 | Loss | - |
MANF | - | - | - | - | 1 | Loss | - |
MAP1A | p.E25K | Missense | SNP | 0.396 | 2 | - | - |
MAP1B | p.G1273D p.M1484I | Missense Missense | SNP SNP | 0.477 0.474 | 2 | - | - |
MAP1LC3C | - | - | - | - | 3 | Gain | - |
MAP2K2 | - | - | - | - | 1 | Loss | - |
MAP2K4 | - | - | - | - | 1 | Loss | - |
MAP2K7 | - | - | - | - | 1 | Loss | - |
MAP3K10 | p.P723S | Missense | SNP | 0.533 | 2 | - | - |
MAP3K13 | - | - | - | - | 3 | Gain | - |
MAP3K7 | - | - | - | - | 1 | Loss | - |
MAP3K9 | p.W95* | Nonsense | SNP | 0.517 | 2 | - | - |
MAP4 | - | - | - | - | 1 | Loss | - |
MAP4K1 | p.P311L | Missense | SNP | 0.472 | 2 | - | - |
MAP6D1 | - | - | - | - | 3 | Gain | - |
MAPK15 | p.X66_splice | Splice_Site | SNP | 0.254 | 6 | Amp | - |
MAPK6 | p.R138L | Missense | SNP | 0.523 | 2 | - | - |
MAPK7 | - | - | - | - | 1 | Loss | - |
MAPK9 | - | - | - | - | 1 | Loss | - |
MAPKAP1 | - | - | - | - | 3 | Gain | - |
MAPKAPK3 | - | - | - | - | 1 | Loss | - |
MARCH3 | - | - | - | - | 1 | Loss | - |
MARCO | p.G349E p.Q395* | Missense Nonsense | SNP SNP | 0.374 0.465 | 2 | - | - |
MARK4 | - | - | - | - | 1 | Loss | - |
MASP1 | - | - | - | - | 3 | Gain | - |
MAT2B | - | - | - | - | 1 | Loss | - |
MATK | - | - | - | - | 1 | Loss | - |
MATN2 | - | - | - | - | 5 | Amp | - |
MATR3 | - | - | - | - | 1 | Loss | - |
MAU2 | - | - | - | - | 1 | Loss | - |
MAZ | p.H474Y | Missense | SNP | 0.375 | 2 | - | - |
MB21D2 | - | - | - | - | 3 | Gain | - |
MBD3 | - | - | - | - | 1 | Loss | - |
MBD3L3 | - | - | - | - | 1 | Loss | - |
MBD3L4 | - | - | - | - | 1 | Loss | - |
MBD4 | - | - | - | - | 3 | Gain | - |
MBLAC1 | - | - | - | - | 3 | Gain | - |
MBNL1 | - | - | - | - | 3 | Gain | - |
MBOAT7 | - | - | - | - | 1 | Loss | - |
MBTD1 | p.L107F | Missense | SNP | 0.275 | 2 | - | - |
MCCC1 | - | - | - | - | 3 | Gain | - |
MCEMP1 | - | - | - | - | 1 | Loss | - |
MCF2L2 | - | - | - | - | 3 | Gain | - |
MCHR2 | p.Q271K | Missense | SNP | 0.602 | 2 | - | - |
MCM2 | - | - | - | - | 3 | Gain | - |
MCM4 | - | - | - | - | 5 | Amp | - |
MCM7 | - | - | - | - | 3 | Gain | - |
MCMDC2 | - | - | - | - | 5 | Amp | - |
MCOLN1 | - | - | - | - | 1 | Loss | - |
MCTP1 | p.G876Dfs*3 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
MDFIC | - | - | - | - | 3 | Gain | - |
MDGA2 | p.E483K p.P365S p.D87N | Missense Missense Missense | SNP SNP SNP | 0.480 0.502 0.469 | 2 | - | - |
MDH2 | p.X23_splice | Splice_Site | SNP | 0.494 | 3 | Gain | - |
MDN1 | - | - | - | - | 1 | Loss | - |
ME3 | p.D543N | Missense | SNP | 0.411 | 2 | - | - |
MECOM | p.D73N | Missense | SNP | 0.273 | 3 | Gain | - |
MED1 | p.P568S | Missense | SNP | 0.627 | 2 | - | - |
MED11 | - | - | - | - | 1 | Loss | - |
MED12L | p.V361A p.E1172K | Missense Missense | SNP SNP | 0.680 0.318 | 3 | Gain | - |
MED16 | - | - | - | - | 1 | Loss | - |
MED22 | - | - | - | - | 3 | Gain | - |
MED25 | - | - | - | - | 1 | Loss | - |
MED27 | - | - | - | - | 3 | Gain | - |
MED30 | - | - | - | - | 5 | Amp | - |
MED31 | - | - | - | - | 1 | Loss | - |
MED7 | - | - | - | - | 1 | Loss | - |
MED9 | - | - | - | - | 1 | Loss | - |
MEF2A | p.P166L | Missense | SNP | 0.560 | 2 | - | - |
MEF2B | - | - | - | - | 1 | Loss | - |
MEF2C | p.R269C | Missense | SNP | 0.492 | 2 | - | - |
MEGF10 | - | - | - | - | 1 | Loss | - |
MEGF9 | - | - | - | - | 3 | Gain | - |
MEIS3 | p.G223E | Missense | SNP | 0.333 | 1 | Loss | - |
MELK | - | - | - | - | 1 | Loss | - |
MELTF | - | - | - | - | 3 | Gain | - |
MEN1 | p.P325S | Missense | SNP | 0.509 | 2 | - | - |
MEOX2 | - | - | - | - | 3 | Gain | - |
MEP1AP4 | . | Splice_Site | SNP | 0.630 | ND | ND | - |
MEPCE | - | - | - | - | 3 | Gain | - |
MEST | - | - | - | - | 3 | Gain | - |
MET | - | - | - | - | 3 | Gain | - |
METTL16 | - | - | - | - | 1 | Loss | - |
METTL25 | p.G406E | Missense | SNP | 0.399 | 2 | - | - |
METTL27 | - | - | - | - | 3 | Gain | - |
METTL2B | - | - | - | - | 3 | Gain | - |
METTL6 | - | - | - | - | 1 | Loss | - |
MEX3A | p.P70F | Missense | MNP | 0.581 | 2 | - | - |
MEX3D | - | - | - | - | 1 | Loss | - |
MFAP3 | - | - | - | - | 1 | Loss | - |
MFAP3L | - | - | - | - | 1 | Loss | - |
MFAP4 | - | - | - | - | 1 | Loss | - |
MFN1 | - | - | - | - | 3 | Gain | - |
MFN2 | p.R294* | Nonsense | SNP | 0.451 | 2 | - | - |
MFSD1 | - | - | - | - | 3 | Gain | - |
MFSD12 | - | - | - | - | 1 | Loss | - |
MFSD14B | - | - | - | - | 3 | Gain | - |
MFSD14C | - | - | - | - | 3 | Gain | - |
MFSD3 | - | - | - | - | 6 | Amp | - |
MFSD6L | - | - | - | - | 1 | Loss | - |
MFSD8 | p.E336D | Missense | SNP | 0.224 | 2 | - | - |
MGA | p.P2999S | Missense | SNP | 0.512 | 2 | - | - |
MGAM | - | - | - | - | 3 | Gain | - |
MGAM2 | - | - | - | - | 3 | Gain | - |
MGAT1 | - | - | - | - | 1 | Loss | - |
MGAT4B | p.Q301H | Missense | SNP | 0.430 | 1 | Loss | - |
MGAT4D | p.D271N | Missense | SNP | 0.383 | 2 | - | - |
MGLL | - | - | - | - | 3 | Gain | - |
MGME1 | p.P124S | Missense | SNP | 0.595 | 2 | - | - |
MIA3 | p.S576F | Missense | SNP | 0.536 | 2 | - | - |
MICAL2 | p.P96L | Missense | SNP | 0.524 | 2 | - | - |
MICALL2 | - | - | - | - | 3 | Gain | - |
MICU1 | p.P60L | Missense | SNP | 0.544 | 2 | - | - |
MIDN | - | - | - | - | 1 | Loss | - |
MIEF2 | - | - | - | - | 1 | Loss | - |
MIER2 | - | - | - | - | 1 | Loss | - |
MIGA2 | - | - | - | - | 3 | Gain | - |
MIIP | p.S72F | Missense | SNP | 0.443 | 2 | - | - |
MINDY4 | - | - | - | - | 3 | Gain | - |
MINDY4B | - | - | - | - | 3 | Gain | - |
MINK1 | - | - | - | - | 1 | Loss | - |
MIOS | - | - | - | - | 3 | Gain | - |
MIPOL1 | p.E35K | Missense | SNP | 0.533 | 2 | - | - |
MIS12 | - | - | - | - | 1 | Loss | - |
MISP | - | - | - | - | 1 | Loss | - |
MITF | - | - | - | - | 1 | Loss | - |
MKLN1 | - | - | - | - | 3 | Gain | - |
MKNK2 | - | - | - | - | 1 | Loss | - |
MKRN1 | - | - | - | - | 3 | Gain | - |
MKRN2 | - | - | - | - | 1 | Loss | - |
MKRN2OS | - | - | - | - | 1 | Loss | - |
MKRN3 | p.R254C | Missense | SNP | 0.512 | 2 | - | - |
MLANA | - | - | - | - | 1 | Loss | - |
MLF1 | - | - | - | - | 3 | Gain | - |
MLH1 | - | - | - | - | 1 | Loss | - |
MLLT1 | - | - | - | - | 1 | Loss | - |
MLLT3 | - | - | - | - | 1 | Loss | - |
MLXIP | p.P265L | Missense | SNP | 0.364 | 2 | - | - |
MLXIPL | - | - | - | - | 3 | Gain | - |
MMD2 | p.V199I | Missense | SNP | 0.416 | 3 | Gain | - |
MME | - | - | - | - | 3 | Gain | - |
MMP12 | p.G424R p.M156I | Missense Missense | SNP SNP | 0.486 0.415 | 2 | - | - |
MMP16 | p.N348Y p.P336S | Missense Missense | SNP SNP | 0.174 0.714 | 5 | Amp | - |
MMP3 | p.E278K | Missense | SNP | 0.580 | 2 | - | - |
MN1 | p.P1085S | Missense | SNP | 0.493 | 2 | - | - |
MNT | - | - | - | - | 1 | Loss | - |
MNX1 | - | - | - | - | 3 | Gain | - |
MOB1A | - | - | - | - | 1 | Loss | - |
MOB3A | - | - | - | - | 1 | Loss | - |
MOB3B | - | - | - | - | 1 | Loss | - |
MOB3C | p.R147G | Missense | SNP | 0.478 | 2 | - | - |
MOBP | - | - | - | - | 1 | Loss | - |
MOGAT3 | - | - | - | - | 3 | Gain | - |
MOGS | - | - | - | - | 1 | Loss | - |
MON1A | - | - | - | - | 1 | Loss | - |
MORC1 | - | - | - | - | 3 | Gain | - |
MORN5 | p.M110I | Missense | SNP | 0.330 | 3 | Gain | - |
MOS | - | - | - | - | 5 | Amp | - |
MOSPD3 | p.R97C | Missense | SNP | 0.511 | 3 | Gain | - |
MOV10 | p.P475S | Missense | SNP | 0.579 | 2 | - | - |
MPDU1 | - | - | - | - | 1 | Loss | - |
MPDZ | - | - | - | - | 1 | Loss | - |
MPLKIP | - | - | - | - | 3 | Gain | - |
MPND | - | - | - | - | 1 | Loss | - |
MPP3 | p.D172N | Missense | SNP | 0.193 | 2 | - | - |
MPP6 | - | - | - | - | 3 | Gain | - |
MPRIP | - | - | - | - | 1 | Loss | - |
MRAS | - | - | - | - | 3 | Gain | - |
MRC1 | p.E619K | Missense | SNP | 0.507 | 2 | - | - |
MRGPRX1 | p.D9N | Missense | SNP | 0.140 | 2 | - | - |
MRM2 | - | - | - | - | 3 | Gain | - |
MRM3 | - | - | - | - | 1 | Loss | - |
MRNIP | - | - | - | - | 1 | Loss | - |
MROH1 | - | - | - | - | 6 | Amp | - |
MROH2B | p.L545S p.E424K | Missense Missense | SNP SNP | 0.545 0.532 | 2 | - | - |
MROH5 | - | - | - | - | 6 | Amp | - |
MROH6 | - | - | - | - | 6 | Amp | - |
MRPL13 | - | - | - | - | 5 | Amp | - |
MRPL15 | - | - | - | - | 5 | Amp | - |
MRPL22 | - | - | - | - | 1 | Loss | - |
MRPL3 | - | - | - | - | 3 | Gain | - |
MRPL32 | - | - | - | - | 3 | Gain | - |
MRPL41 | - | - | - | - | 3 | Gain | - |
MRPL47 | - | - | - | - | 3 | Gain | - |
MRPL49 | p.P33L | Missense | SNP | 0.491 | 2 | - | - |
MRPL50 | p.P48S | Missense | SNP | 0.384 | 3 | Gain | - |
MRPL53 | - | - | - | - | 1 | Loss | - |
MRPL54 | - | - | - | - | 1 | Loss | - |
MRPS17 | - | - | - | - | 3 | Gain | - |
MRPS2 | - | - | - | - | 3 | Gain | - |
MRPS22 | - | - | - | - | 3 | Gain | - |
MRPS24 | - | - | - | - | 3 | Gain | - |
MRPS25 | - | - | - | - | 1 | Loss | - |
MRPS28 | - | - | - | - | 5 | Amp | - |
MRPS33 | - | - | - | - | 3 | Gain | - |
MRRF | - | - | - | - | 3 | Gain | - |
MS4A7 | p.M153I | Missense | SNP | 0.542 | 2 | - | - |
MSANTD1 | p.D145N | Missense | SNP | 0.380 | 2 | - | - |
MSANTD3 | - | - | - | - | 3 | Gain | - |
MSANTD3-TMEFF1 | - | - | - | - | 3 | Gain | - |
MSC | - | - | - | - | 5 | Amp | - |
MSH4 | p.M515I | Missense | SNP | 0.397 | 2 | - | - |
MSL2 | - | - | - | - | 3 | Gain | - |
MSMP | - | - | - | - | 1 | Loss | - |
MSR1 | p.G341E | Missense | SNP | 0.480 | 2 | - | - |
MST1 | - | - | - | - | 1 | Loss | - |
MST1R | - | - | - | - | 1 | Loss | - |
MSX2 | - | - | - | - | 1 | Loss | - |
MTAP | - | - | - | - | 1 | Loss | - |
MTBP | - | - | - | - | 5 | Amp | - |
MTCL1 | p.E939K p.S1489F | Missense Missense | SNP SNP | 0.504 0.537 | 2 | - | - |
MTDH | - | - | - | - | 5 | Amp | - |
MTERF1 | - | - | - | - | 3 | Gain | - |
MTERF3 | - | - | - | - | 5 | Amp | - |
MTF1 | p.D727N | Missense | SNP | 0.476 | 2 | - | - |
MTFR1 | - | - | - | - | 5 | Amp | - |
MTG2 | p.R131_G140del | In_Frame_Del | DEL | 0.160 | 2 | - | - |
MTHFD2 | - | - | - | - | 1 | Loss | - |
MTHFSD | p.P297S | Missense | SNP | 0.567 | 2 | - | - |
MTMR14 | - | - | - | - | 1 | Loss | - |
MTMR6 | p.E218K | Missense | SNP | 0.502 | 2 | - | - |
MTNR1A | p.P227H | Missense | SNP | 0.589 | 1 | Loss | - |
MTPN | - | - | - | - | 3 | Gain | - |
MTR | p.X825_splice p.P1173S | Splice_Site Missense | SNP SNP | 0.390 0.455 | 2 | - | - |
MTSS1 | - | - | - | - | 5 | Amp | - |
MTURN | - | - | - | - | 3 | Gain | - |
MTUS2 | p.R771W | Missense | SNP | 0.521 | 2 | - | - |
MUC12 | p.S680L p.P3177S | Missense Missense | SNP SNP | 0.170 0.082 | 3 | Gain | - |
MUC13 | - | - | - | - | 3 | Gain | - |
MUC16 | p.D13229N p.W4118* p.T1006I p.S870L | Missense Nonsense Missense Missense | SNP SNP SNP SNP | 0.564 0.496 0.495 0.429 | 2 | - | - |
MUC17 | p.L2064F p.P2421L | Missense Missense | SNP SNP | 0.499 0.507 | 3 | Gain | - |
MUC20 | - | - | - | - | 3 | Gain | - |
MUC3A | p.D3016Y | Missense | SNP | 0.230 | 3 | Gain | - |
MUC4 | p.R1696C | Missense | SNP | 0.518 | 3 | Gain | - |
MUC5AC | p.L570Y p.G572E p.P2240S | Missense Missense Missense | MNP SNP SNP | 0.433 0.442 0.524 | 2 | - | - |
MUC5B | p.A1479T | Missense | SNP | 0.340 | 2 | - | - |
MUM1 | - | - | - | - | 1 | Loss | - |
MUSK | - | - | - | - | 3 | Gain | - |
MUSTN1 | - | - | - | - | 1 | Loss | - |
MVB12B | - | - | - | - | 3 | Gain | - |
MXD3 | - | - | - | - | 1 | Loss | - |
MYADM | - | - | - | - | 1 | Loss | - |
MYBBP1A | - | - | - | - | 1 | Loss | - |
MYBL1 | p.K678* | Nonsense | SNP | 0.158 | 5 | Amp | - |
MYBPC2 | - | - | - | - | 1 | Loss | - |
MYC | - | - | - | - | 5 | Amp | - |
MYCBP2 | p.G2019N | Missense | MNP | 0.435 | 2 | - | - |
MYCBPAP | p.P636S | Missense | SNP | 0.758 | 2 | - | - |
MYCT1 | p.G124E | Missense | SNP | 0.649 | 2 | - | - |
MYD88 | - | - | - | - | 1 | Loss | - |
MYDGF | - | - | - | - | 1 | Loss | - |
MYEF2 | p.D367N | Missense | SNP | 0.358 | 2 | - | - |
MYH1 | p.G1247E p.E1222K | Missense Missense | SNP SNP | 0.524 0.642 | 1 | Loss | - |
MYH10 | - | - | - | - | 1 | Loss | - |
MYH13 | p.A1910V | Missense | SNP | 0.646 | 1 | Loss | - |
MYH14 | p.Q97* | Nonsense | SNP | 0.527 | 1 | Loss | - |
MYH15 | p.W15* | Nonsense | SNP | 0.648 | 3 | Gain | - |
MYH2 | - | - | - | - | 1 | Loss | - |
MYH3 | - | - | - | - | 1 | Loss | - |
MYH4 | p.E1124K | Missense | SNP | 0.359 | 1 | Loss | - |
MYH6 | p.E1628K | Missense | SNP | 0.596 | 2 | - | - |
MYH8 | - | - | - | - | 1 | Loss | - |
MYL10 | - | - | - | - | 3 | Gain | - |
MYL3 | - | - | - | - | 1 | Loss | - |
MYL7 | - | - | - | - | 3 | Gain | - |
MYLK | - | - | - | - | 3 | Gain | - |
MYMK | - | - | - | - | 3 | Gain | - |
MYNN | - | - | - | - | 3 | Gain | - |
MYO15A | p.S655F p.R950P | Missense Missense | SNP SNP | 0.697 0.673 | 1 | Loss | - |
MYO16 | p.E662K | Missense | SNP | 0.541 | 2 | - | - |
MYO1A | p.L543F | Missense | SNP | 0.379 | 2 | - | - |
MYO1C | p.P89L | Missense | SNP | 0.725 | 1 | Loss | - |
MYO1G | - | - | - | - | 3 | Gain | - |
MYO5B | p.R749* | Nonsense | SNP | 0.456 | 2 | - | - |
MYO9A | p.S891N | Missense | SNP | 0.477 | 2 | - | - |
MYOCD | p.S664F | Missense | SNP | 0.242 | 1 | Loss | - |
MYOM2 | p.P1017F | Missense | MNP | 0.549 | 2 | - | - |
MYORG | - | - | - | - | 1 | Loss | - |
MYOT | p.P349T | Missense | SNP | 0.618 | 1 | Loss | - |
MYOZ3 | - | - | - | - | 1 | Loss | - |
MYPOP | p.S259F | Missense | SNP | 0.649 | 1 | Loss | - |
MYRIP | - | - | - | - | 1 | Loss | - |
MYT1 | p.G376R | Missense | SNP | 0.438 | 2 | - | - |
MZB1 | - | - | - | - | 1 | Loss | - |
MZF1 | - | - | - | - | 1 | Loss | - |
N4BP2 | p.R1198K | Missense | SNP | 0.657 | 2 | - | - |
N4BP3 | p.S211F | Missense | SNP | 0.565 | 1 | Loss | - |
NAA16 | p.P572S | Missense | SNP | 0.516 | 2 | - | - |
NAA25 | p.L55* | Nonsense | SNP | 0.531 | 2 | - | - |
NAA35 | - | - | - | - | 3 | Gain | - |
NAA38 | - | - | - | - | 1 | Loss | - |
NAA50 | - | - | - | - | 3 | Gain | - |
NAA80 | - | - | - | - | 1 | Loss | - |
NAALADL2 | - | - | - | - | 3 | Gain | - |
NACA | p.S316F | Missense | SNP | 0.404 | 2 | - | - |
NACAD | - | - | - | - | 3 | Gain | - |
NACC2 | - | - | - | - | 3 | Gain | - |
NAIF1 | - | - | - | - | 3 | Gain | - |
NALCN | p.G1499K p.D1277N | Missense Missense | MNP SNP | 0.640 0.436 | 2 | - | - |
NAMPT | - | - | - | - | 3 | Gain | - |
NANOS2 | - | - | - | - | 1 | Loss | - |
NANS | - | - | - | - | 3 | Gain | - |
NAPA | - | - | - | - | 1 | Loss | - |
NAPEPLD | - | - | - | - | 3 | Gain | - |
NAPRT | - | - | - | - | 6 | Amp | - |
NAPSA | - | - | - | - | 1 | Loss | - |
NARF | p.E217K | Missense | SNP | 0.670 | 2 | - | - |
NAT16 | p.E62K | Missense | SNP | 0.458 | 3 | Gain | - |
NAV3 | p.R1575W | Missense | SNP | 0.417 | 2 | - | - |
NBAS | p.M499I | Missense | SNP | 0.578 | 2 | - | - |
NBEA | p.D1134N | Missense | SNP | 0.295 | 2 | - | - |
NBEAL1 | p.P735S | Missense | SNP | 0.525 | 2 | - | - |
NBEAL2 | - | - | - | - | 1 | Loss | - |
NBN | - | - | - | - | 5 | Amp | - |
NBPF11 | p.E206K | Missense | SNP | 0.583 | 2 | - | - |
NBPF26 | p.H151Y | Missense | SNP | 0.494 | 2 | - | - |
NCALD | - | - | - | - | 5 | Amp | - |
NCAN | - | - | - | - | 1 | Loss | - |
NCAPD3 | p.S231F | Missense | SNP | 0.466 | 2 | - | - |
NCAPG2 | - | - | - | - | 3 | Gain | - |
NCBP1 | - | - | - | - | 3 | Gain | - |
NCBP2 | - | - | - | - | 3 | Gain | - |
NCBP2-AS2 | - | - | - | - | 3 | Gain | - |
NCBP3 | - | - | - | - | 1 | Loss | - |
NCEH1 | - | - | - | - | 3 | Gain | - |
NCF1 | - | - | - | - | 3 | Gain | - |
NCK1 | - | - | - | - | 3 | Gain | - |
NCKAP1L | p.E107K p.P569L | Missense Missense | SNP SNP | 0.425 0.529 | 2 | - | - |
NCKAP5 | p.P1066L p.G624E | Missense Missense | SNP SNP | 0.425 0.543 | 2 | - | - |
NCKAP5L | p.E1096K | Missense | SNP | 0.387 | 2 | - | - |
NCKIPSD | - | - | - | - | 1 | Loss | - |
NCLN | - | - | - | - | 1 | Loss | - |
NCOA2 | - | - | - | - | 5 | Amp | - |
NCOA4 | p.E302K | Missense | SNP | 0.276 | 2 | - | - |
NCOR1 | - | - | - | - | 1 | Loss | - |
NCOR2 | p.S2109N p.G804E | Missense Missense | SNP SNP | 0.682 0.533 | 2 | - | - |
NCS1 | - | - | - | - | 3 | Gain | - |
NDEL1 | - | - | - | - | 1 | Loss | - |
NDFIP1 | - | - | - | - | 1 | Loss | - |
NDOR1 | - | - | - | - | 3 | Gain | - |
NDRG1 | - | - | - | - | 5 | Amp | - |
NDRG2 | p.R347L | Missense | SNP | 0.424 | 2 | - | - |
NDST1 | - | - | - | - | 1 | Loss | - |
NDST2 | p.L88I | Missense | SNP | 0.412 | 2 | - | - |
NDUFA11 | - | - | - | - | 1 | Loss | - |
NDUFA13 | - | - | - | - | 1 | Loss | - |
NDUFA2 | - | - | - | - | 1 | Loss | - |
NDUFA3 | - | - | - | - | 1 | Loss | - |
NDUFA4 | - | - | - | - | 3 | Gain | - |
NDUFA5 | - | - | - | - | 3 | Gain | - |
NDUFA8 | - | - | - | - | 3 | Gain | - |
NDUFAF3 | - | - | - | - | 1 | Loss | - |
NDUFAF6 | - | - | - | - | 5 | Amp | - |
NDUFB2 | - | - | - | - | 3 | Gain | - |
NDUFB3 | p.D94N | Missense | SNP | 0.435 | ND | ND | - |
NDUFB4 | - | - | - | - | 3 | Gain | - |
NDUFB5 | - | - | - | - | 3 | Gain | - |
NDUFB6 | - | - | - | - | 1 | Loss | - |
NDUFB9 | - | - | - | - | 5 | Amp | - |
NDUFS7 | - | - | - | - | 1 | Loss | - |
NEBL | p.E24K | Missense | SNP | 0.543 | 2 | - | - |
NECAB1 | - | - | - | - | 5 | Amp | - |
NECTIN2 | - | - | - | - | 1 | Loss | - |
NECTIN3 | - | - | - | - | 3 | Gain | - |
NEFM | p.G542R | Missense | SNP | 0.603 | 2 | - | - |
NEIL3 | - | - | - | - | 1 | Loss | - |
NEK1 | p.R608C p.L106S | Missense Missense | SNP SNP | 0.641 0.313 | 2 | - | - |
NEK10 | p.G1017E | Missense | SNP | 0.263 | 1 | Loss | - |
NEK11 | - | - | - | - | 3 | Gain | - |
NEK4 | - | - | - | - | 1 | Loss | - |
NEK6 | - | - | - | - | 3 | Gain | - |
NELFB | - | - | - | - | 3 | Gain | - |
NELL2 | p.R389Q | Missense | SNP | 0.484 | 2 | - | - |
NEO1 | p.P370L | Missense | SNP | 0.593 | 2 | - | - |
NEPRO | - | - | - | - | 3 | Gain | - |
NEURL1B | - | - | - | - | 1 | Loss | - |
NEURL4 | p.R1177W p.E953K p.P310L | Missense Missense Missense | SNP SNP SNP | 0.318 0.243 0.322 | 1 | Loss | - |
NEUROD6 | - | - | - | - | 3 | Gain | - |
NEUROG1 | - | - | - | - | 1 | Loss | - |
NF1 | p.S2117F | Missense | SNP | 0.694 | 2 | - | - |
NFE2L3 | - | - | - | - | 3 | Gain | - |
NFE4 | - | - | - | - | 3 | Gain | - |
NFIB | - | - | - | - | 1 | Loss | - |
NFIC | p.P102L | Missense | SNP | 0.622 | 1 | Loss | - |
NFIL3 | - | - | - | - | 3 | Gain | - |
NFIX | p.P352S | Missense | SNP | 0.645 | 2 | - | - |
NFKB1 | p.P6S | Missense | SNP | 0.260 | 2 | - | - |
NFKBIZ | - | - | - | - | 3 | Gain | - |
NFX1 | - | - | - | - | 1 | Loss | - |
NGLY1 | - | - | - | - | 1 | Loss | - |
NHP2 | - | - | - | - | 1 | Loss | - |
NICN1 | - | - | - | - | 1 | Loss | - |
NID2 | p.E1024K | Missense | SNP | 0.571 | 2 | - | - |
NINJ1 | - | - | - | - | 3 | Gain | - |
NIPAL2 | - | - | - | - | 5 | Amp | - |
NIPAL4 | p.P48S | Missense | SNP | 0.415 | 1 | Loss | - |
NIPSNAP2 | - | - | - | - | 3 | Gain | - |
NIPSNAP3A | - | - | - | - | 3 | Gain | - |
NIPSNAP3B | - | - | - | - | 3 | Gain | - |
NISCH | p.E63A | Missense | SNP | 0.305 | 1 | Loss | - |
NIT2 | - | - | - | - | 3 | Gain | - |
NKAIN3 | p.G39E | Missense | SNP | 0.288 | 5 | Amp | - |
NKAPL | p.D276N | Missense | SNP | 0.571 | 2 | - | - |
NKG7 | - | - | - | - | 1 | Loss | - |
NKIRAS1 | - | - | - | - | 1 | Loss | - |
NKPD1 | - | - | - | - | 1 | Loss | - |
NKTR | - | - | - | - | 1 | Loss | - |
NKX2-5 | p.P3S | Missense | SNP | 0.544 | 1 | Loss | - |
NKX3-1 | p.E202K | Missense | SNP | 0.557 | 2 | - | - |
NLGN1 | - | - | - | - | 3 | Gain | - |
NLGN2 | - | - | - | - | 1 | Loss | - |
NLRP1 | p.P97L | Missense | SNP | 0.667 | 1 | Loss | - |
NLRP12 | - | - | - | - | 1 | Loss | - |
NLRP13 | p.H420Y | Missense | SNP | 0.430 | 2 | - | - |
NLRP3 | - | - | - | - | 3 | Gain | - |
NLRP9 | p.P329S | Missense | SNP | 0.478 | 2 | - | - |
NMD3 | p.P47L | Missense | SNP | 0.716 | 3 | Gain | - |
NME5 | - | - | - | - | 1 | Loss | - |
NME6 | - | - | - | - | 1 | Loss | - |
NME8 | - | - | - | - | 3 | Gain | - |
NME9 | - | - | - | - | 3 | Gain | - |
NMNAT3 | - | - | - | - | 3 | Gain | - |
NMRK1 | - | - | - | - | 3 | Gain | - |
NMRK2 | - | - | - | - | 1 | Loss | - |
NMT1 | p.S312F | Missense | SNP | 0.705 | 2 | - | - |
NMUR2 | - | - | - | - | 1 | Loss | - |
NOBOX | - | - | - | - | 3 | Gain | - |
NOD1 | - | - | - | - | 3 | Gain | - |
NOD2 | p.T1012I | Missense | SNP | 0.357 | 2 | - | - |
NOL6 | p.G843E | Missense | SNP | 1.000 | 1 | Loss | - |
NOL8 | - | - | - | - | 3 | Gain | - |
NOM1 | - | - | - | - | 3 | Gain | - |
NOP16 | - | - | - | - | 1 | Loss | - |
NOP53 | - | - | - | - | 1 | Loss | - |
NOS3 | - | - | - | - | 3 | Gain | - |
NOSIP | - | - | - | - | 1 | Loss | - |
NOTCH1 | p.S1723N;p.X1723_splice | Splice_Site | MNP | 1.000 | 3 | Gain | - |
NOTCH2 | p.A1340Qfs*10 p.P2375L | Frame_Shift_Del Missense | DEL SNP | 0.495 0.523 | 2 | - | - |
NOTCH3 | p.Q1486* p.W1028* | Nonsense Nonsense | SNP SNP | 0.438 0.471 | 2 | - | - |
NOV | - | - | - | - | 5 | Amp | - |
NOVA2 | - | - | - | - | 1 | Loss | - |
NOX5 | p.S598Y | Missense | SNP | 0.474 | 2 | - | - |
NOXA1 | - | - | - | - | 3 | Gain | - |
NPAP1 | p.D880N | Missense | SNP | 0.438 | 2 | - | - |
NPAS1 | - | - | - | - | 1 | Loss | - |
NPAT | p.L740V p.S709* | Missense Nonsense | SNP SNP | 0.225 0.209 | 2 | - | - |
NPBWR1 | - | - | - | - | 5 | Amp | - |
NPC1L1 | - | - | - | - | 3 | Gain | - |
NPDC1 | - | - | - | - | 3 | Gain | - |
NPEPL1 | p.W393* | Nonsense | MNP | 0.319 | 2 | - | - |
NPHP1 | p.P395Sfs*20 | Frame_Shift_Ins | INS | 0.325 | 2 | - | - |
NPHP3 | - | - | - | - | 3 | Gain | - |
NPHP3-ACAD11 | - | - | - | - | 3 | Gain | - |
NPHP4 | p.E1190K | Missense | SNP | 0.561 | 2 | - | - |
NPM1 | - | - | - | - | 1 | Loss | - |
NPR2 | - | - | - | - | 1 | Loss | - |
NPRL2 | - | - | - | - | 1 | Loss | - |
NPSR1 | - | - | - | - | 3 | Gain | - |
NPTX2 | - | - | - | - | 3 | Gain | - |
NPVF | - | - | - | - | 3 | Gain | - |
NPY | - | - | - | - | 3 | Gain | - |
NR0B2 | p.G13K | Missense | MNP | 0.551 | 2 | - | - |
NR1D2 | - | - | - | - | 1 | Loss | - |
NR1H2 | - | - | - | - | 1 | Loss | - |
NR1I2 | - | - | - | - | 3 | Gain | - |
NR2C2 | - | - | - | - | 1 | Loss | - |
NR2C2AP | - | - | - | - | 1 | Loss | - |
NR2E3 | p.T6K | Missense | SNP | 0.422 | 2 | - | - |
NR3C1 | - | - | - | - | 1 | Loss | - |
NR4A3 | - | - | - | - | 3 | Gain | - |
NR5A1 | - | - | - | - | 3 | Gain | - |
NR6A1 | - | - | - | - | 3 | Gain | - |
NRAP | p.P1669S p.T660I | Missense Missense | SNP SNP | 0.416 0.571 | 2 | - | - |
NRARP | - | - | - | - | 3 | Gain | - |
NRBP2 | - | - | - | - | 6 | Amp | - |
NRCAM | p.P1241S p.W147C | Missense Missense | SNP SNP | 0.451 0.483 | 3 | Gain | - |
NRF1 | - | - | - | - | 3 | Gain | - |
NRG2 | - | - | - | - | 1 | Loss | - |
NRROS | - | - | - | - | 3 | Gain | - |
NRTN | - | - | - | - | 1 | Loss | - |
NRXN1 | p.G1009E p.G156E p.F96C | Missense Missense Missense | SNP SNP SNP | 0.576 0.473 0.571 | 2 | - | - |
NRXN3 | p.S355F | Missense | SNP | 0.571 | 2 | - | - |
NSD1 | p.R1731C | Missense | SNP | 0.417 | 1 | Loss | - |
NSG2 | - | - | - | - | 1 | Loss | - |
NSMAF | - | - | - | - | 5 | Amp | - |
NSMCE2 | - | - | - | - | 5 | Amp | - |
NSMCE4A | p.A75T | Missense | SNP | 0.431 | 2 | - | - |
NSMF | - | - | - | - | 3 | Gain | - |
NSUN3 | p.S226F p.Q227* | Missense Nonsense | SNP SNP | 0.263 0.258 | 3 | Gain | - |
NSUN5 | - | - | - | - | 3 | Gain | - |
NT5C1A | p.P46L | Missense | SNP | 0.576 | 2 | - | - |
NT5C1B | p.R287K | Missense | SNP | 0.419 | 2 | - | - |
NT5C3A | - | - | - | - | 3 | Gain | - |
NT5DC2 | - | - | - | - | 1 | Loss | - |
NT5DC4 | p.E398K | Missense | SNP | 0.424 | 2 | - | - |
NT5M | - | - | - | - | 1 | Loss | - |
NTF4 | - | - | - | - | 1 | Loss | - |
NTMT1 | - | - | - | - | 3 | Gain | - |
NTN1 | p.R72L | Missense | SNP | 0.286 | 1 | Loss | - |
NTN5 | - | - | - | - | 1 | Loss | - |
NTNG2 | - | - | - | - | 3 | Gain | - |
NTRK1 | p.E413K | Missense | SNP | 0.438 | 2 | - | - |
NTRK2 | - | - | - | - | 3 | Gain | - |
NTRK3 | p.R153W | Missense | SNP | 0.404 | 2 | - | - |
NUB1 | - | - | - | - | 3 | Gain | - |
NUCB1 | - | - | - | - | 1 | Loss | - |
NUDCD1 | - | - | - | - | 5 | Amp | - |
NUDCD2 | - | - | - | - | 1 | Loss | - |
NUDCD3 | - | - | - | - | 3 | Gain | - |
NUDT1 | - | - | - | - | 3 | Gain | - |
NUDT16 | - | - | - | - | 3 | Gain | - |
NUDT2 | - | - | - | - | 1 | Loss | - |
NUDT4 | p.S178F | Missense | SNP | 0.714 | 2 | - | - |
NUMBL | p.P572L | Missense | SNP | 0.485 | 2 | - | - |
NUP188 | - | - | - | - | 3 | Gain | - |
NUP205 | - | - | - | - | 3 | Gain | - |
NUP210 | - | - | - | - | 1 | Loss | - |
NUP210L | p.D126N | Missense | SNP | 0.573 | 2 | - | - |
NUP214 | p.P1314S | Missense | SNP | 0.347 | 3 | Gain | - |
NUP62 | - | - | - | - | 1 | Loss | - |
NUP88 | - | - | - | - | 1 | Loss | - |
NUPL2 | p.H212Y | Missense | SNP | 0.503 | 3 | Gain | - |
NUPR2 | - | - | - | - | 3 | Gain | - |
NUTM1 | p.S266F | Missense | SNP | 0.481 | 2 | - | - |
NUTM2F | - | - | - | - | 3 | Gain | - |
NUTM2G | - | - | - | - | 3 | Gain | - |
NWD2 | p.G127E | Missense | SNP | 0.538 | 2 | - | - |
NXN | - | - | - | - | 1 | Loss | - |
NXNL2 | - | - | - | - | 3 | Gain | - |
NXPE1 | p.G129E | Missense | SNP | 0.421 | 2 | - | - |
NXPE3 | - | - | - | - | 3 | Gain | - |
NXPH1 | - | - | - | - | 3 | Gain | - |
NYAP1 | p.P98L p.S175F p.V202I p.G204W | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.490 0.409 0.411 0.580 | 3 | Gain | - |
OAZ1 | - | - | - | - | 1 | Loss | - |
OBP2A | - | - | - | - | 3 | Gain | - |
OBP2B | - | - | - | - | 3 | Gain | - |
OBSCN | p.H3041Y | Missense | SNP | 0.576 | 3 | Gain | - |
OBSL1 | p.E1215* p.F606L | Nonsense Missense | SNP SNP | 0.541 0.516 | 2 | - | - |
OC90 | - | - | - | - | 5 | Amp | - |
OCIAD1 | - | - | - | - | 3 | Gain | - |
OCIAD2 | - | - | - | - | 3 | Gain | - |
OCM | - | - | - | - | 3 | Gain | - |
OCM2 | - | - | - | - | 3 | Gain | - |
ODF1 | - | - | - | - | 5 | Amp | - |
ODF2 | - | - | - | - | 3 | Gain | - |
ODF3L2 | - | - | - | - | 1 | Loss | - |
ODF4 | - | - | - | - | 1 | Loss | - |
OGDH | - | - | - | - | 3 | Gain | - |
OGDHL | p.E166K | Missense | SNP | 0.549 | 2 | - | - |
OGG1 | - | - | - | - | 1 | Loss | - |
OGN | - | - | - | - | 3 | Gain | - |
OLFM1 | p.R4C | Missense | SNP | 0.331 | 3 | Gain | - |
OLFML2A | - | - | - | - | 3 | Gain | - |
OLIG3 | p.L255F | Missense | SNP | 0.519 | 2 | - | - |
OMD | - | - | - | - | 3 | Gain | - |
ONECUT3 | - | - | - | - | 1 | Loss | - |
OPA1 | - | - | - | - | 3 | Gain | - |
OPA3 | - | - | - | - | 1 | Loss | - |
OPLAH | - | - | - | - | 6 | Amp | - |
OPN1SW | - | - | - | - | 3 | Gain | - |
OPN3 | - | - | - | - | 3 | Gain | - |
OPRK1 | - | - | - | - | 5 | Amp | - |
OR10A7 | p.M118I | Missense | SNP | 0.402 | 2 | - | - |
OR10G4 | p.I245V | Missense | SNP | 0.490 | 2 | - | - |
OR10R2 | p.L206I | Missense | SNP | 0.563 | 2 | - | - |
OR11G2 | p.P197S | Missense | SNP | 0.511 | 2 | - | - |
OR11L1 | - | - | - | - | 3 | Gain | - |
OR13C2 | - | - | - | - | 3 | Gain | - |
OR13C3 | - | - | - | - | 3 | Gain | - |
OR13C4 | - | - | - | - | 3 | Gain | - |
OR13C5 | - | - | - | - | 3 | Gain | - |
OR13C8 | - | - | - | - | 3 | Gain | - |
OR13C9 | - | - | - | - | 3 | Gain | - |
OR13D1 | - | - | - | - | 3 | Gain | - |
OR13F1 | - | - | - | - | 3 | Gain | - |
OR13G1 | - | - | - | - | 3 | Gain | - |
OR13J1 | - | - | - | - | 1 | Loss | - |
OR14A16 | p.V57L | Missense | SNP | 0.338 | 3 | Gain | - |
OR14A2 | - | - | - | - | 3 | Gain | - |
OR14C36 | - | - | - | - | 3 | Gain | - |
OR14I1 | - | - | - | - | 3 | Gain | - |
OR14K1 | - | - | - | - | 3 | Gain | - |
OR1A1 | - | - | - | - | 1 | Loss | - |
OR1A2 | - | - | - | - | 1 | Loss | - |
OR1B1 | - | - | - | - | 3 | Gain | - |
OR1C1 | - | - | - | - | 3 | Gain | - |
OR1D2 | - | - | - | - | 1 | Loss | - |
OR1D5 | - | - | - | - | 1 | Loss | - |
OR1E1 | - | - | - | - | 1 | Loss | - |
OR1E2 | - | - | - | - | 1 | Loss | - |
OR1G1 | - | - | - | - | 1 | Loss | - |
OR1I1 | p.S188Y | Missense | SNP | 0.598 | 2 | - | - |
OR1J1 | - | - | - | - | 3 | Gain | - |
OR1J2 | - | - | - | - | 3 | Gain | - |
OR1J4 | - | - | - | - | 3 | Gain | - |
OR1K1 | p.G147R | Missense | SNP | 0.383 | 3 | Gain | - |
OR1L1 | - | - | - | - | 3 | Gain | - |
OR1L3 | p.P79S | Missense | SNP | 0.331 | 3 | Gain | - |
OR1L4 | - | - | - | - | 3 | Gain | - |
OR1L6 | - | - | - | - | 3 | Gain | - |
OR1L8 | - | - | - | - | 3 | Gain | - |
OR1N1 | - | - | - | - | 3 | Gain | - |
OR1N2 | - | - | - | - | 3 | Gain | - |
OR1Q1 | - | - | - | - | 3 | Gain | - |
OR2A1 | - | - | - | - | 3 | Gain | - |
OR2A12 | - | - | - | - | 3 | Gain | - |
OR2A14 | - | - | - | - | 3 | Gain | - |
OR2A2 | - | - | - | - | 3 | Gain | - |
OR2A25 | - | - | - | - | 3 | Gain | - |
OR2A42 | - | - | - | - | 3 | Gain | - |
OR2A5 | - | - | - | - | 3 | Gain | - |
OR2A7 | p.E268K p.R21S | Missense Missense | SNP SNP | 0.124 0.248 | ND | ND | - |
OR2AE1 | - | - | - | - | 3 | Gain | - |
OR2AJ1 | - | - | - | - | 3 | Gain | - |
OR2AK2 | - | - | - | - | 3 | Gain | - |
OR2B11 | p.Q84H | Missense | SNP | 0.089 | 3 | Gain | - |
OR2C3 | - | - | - | - | 3 | Gain | - |
OR2F1 | - | - | - | - | 3 | Gain | - |
OR2F2 | - | - | - | - | 3 | Gain | - |
OR2G2 | - | - | - | - | 3 | Gain | - |
OR2G3 | - | - | - | - | 3 | Gain | - |
OR2G6 | - | - | - | - | 3 | Gain | - |
OR2K2 | - | - | - | - | 3 | Gain | - |
OR2L13 | p.L62F | Missense | SNP | 0.312 | 3 | Gain | - |
OR2L2 | - | - | - | - | 3 | Gain | - |
OR2L3 | - | - | - | - | 3 | Gain | - |
OR2L5 | - | - | - | - | 3 | Gain | - |
OR2L8 | - | - | - | - | 3 | Gain | - |
OR2M2 | - | - | - | - | 3 | Gain | - |
OR2M3 | - | - | - | - | 3 | Gain | - |
OR2M4 | - | - | - | - | 3 | Gain | - |
OR2M5 | - | - | - | - | 3 | Gain | - |
OR2M7 | - | - | - | - | 3 | Gain | - |
OR2S2 | - | - | - | - | 1 | Loss | - |
OR2T1 | - | - | - | - | 3 | Gain | - |
OR2T10 | - | - | - | - | 3 | Gain | - |
OR2T11 | - | - | - | - | 3 | Gain | - |
OR2T12 | - | - | - | - | 3 | Gain | - |
OR2T2 | p.E112K | Missense | SNP | 0.167 | 3 | Gain | - |
OR2T27 | - | - | - | - | 3 | Gain | - |
OR2T29 | - | - | - | - | 3 | Gain | - |
OR2T3 | - | - | - | - | 3 | Gain | - |
OR2T33 | - | - | - | - | 3 | Gain | - |
OR2T34 | - | - | - | - | 3 | Gain | - |
OR2T35 | - | - | - | - | 3 | Gain | - |
OR2T4 | - | - | - | - | 3 | Gain | - |
OR2T5 | - | - | - | - | 3 | Gain | - |
OR2T6 | - | - | - | - | 3 | Gain | - |
OR2T8 | - | - | - | - | 3 | Gain | - |
OR2V1 | - | - | - | - | 1 | Loss | - |
OR2V2 | - | - | - | - | 1 | Loss | - |
OR2W3 | - | - | - | - | 3 | Gain | - |
OR2Y1 | - | - | - | - | 1 | Loss | - |
OR2Z1 | p.M197I | Missense | SNP | 0.673 | 2 | - | - |
OR3A1 | - | - | - | - | 1 | Loss | - |
OR3A2 | - | - | - | - | 1 | Loss | - |
OR3A3 | - | - | - | - | 1 | Loss | - |
OR4A47 | - | - | - | - | 1 | Loss | - |
OR4C12 | - | - | - | - | 1 | Loss | - |
OR4C13 | p.D119N | Missense | SNP | 0.497 | 1 | Loss | - |
OR4C15 | p.G53R p.R175C | Missense Missense | SNP SNP | 0.486 0.431 | 2 | - | - |
OR4C5 | p.G173R | Missense | SNP | 0.349 | 1 | Loss | - |
OR4D10 | p.L31I p.G41R | Missense Missense | SNP SNP | 0.557 0.400 | 2 | - | - |
OR4D9 | p.A147T | Missense | SNP | 0.548 | 2 | - | - |
OR4F17 | - | - | - | - | 1 | Loss | - |
OR4K5 | p.R299K | Missense | SNP | 0.331 | 2 | - | - |
OR4M1 | p.P286L | Missense | SNP | 0.312 | 2 | - | - |
OR4N5 | p.G41E | Missense | SNP | 0.487 | 2 | - | - |
OR4X2 | p.E62K | Missense | SNP | 0.491 | 2 | - | - |
OR51A2 | p.D185N | Missense | SNP | 0.324 | 2 | - | - |
OR52E8 | p.L221F | Missense | SNP | 0.488 | 2 | - | - |
OR5AC2 | - | - | - | - | 3 | Gain | - |
OR5AN1 | p.N85S | Missense | SNP | 0.435 | 2 | - | - |
OR5C1 | - | - | - | - | 3 | Gain | - |
OR5D14 | p.M47I | Missense | SNP | 0.407 | 2 | - | - |
OR5D18 | p.D300N | Missense | SNP | 0.422 | 2 | - | - |
OR5H1 | - | - | - | - | 3 | Gain | - |
OR5H14 | - | - | - | - | 3 | Gain | - |
OR5H15 | - | - | - | - | 3 | Gain | - |
OR5H2 | - | - | - | - | 3 | Gain | - |
OR5H6 | - | - | - | - | 3 | Gain | - |
OR5K1 | - | - | - | - | 3 | Gain | - |
OR5K2 | - | - | - | - | 3 | Gain | - |
OR5K3 | - | - | - | - | 3 | Gain | - |
OR5K4 | - | - | - | - | 3 | Gain | - |
OR6A2 | p.S98F | Missense | SNP | 0.423 | 2 | - | - |
OR6B1 | - | - | - | - | 3 | Gain | - |
OR6C3 | p.P259S | Missense | SNP | 0.389 | 2 | - | - |
OR6C4 | p.R120C | Missense | SNP | 0.586 | 2 | - | - |
OR6F1 | - | - | - | - | 3 | Gain | - |
OR6V1 | - | - | - | - | 3 | Gain | - |
OR7C2 | p.P210S | Missense | SNP | 0.558 | 2 | - | - |
OR7D2 | p.P108S | Missense | SNP | 0.539 | 2 | - | - |
OR9A2 | - | - | - | - | 3 | Gain | - |
OR9A4 | - | - | - | - | 3 | Gain | - |
OR9I1 | p.S212F | Missense | SNP | 0.512 | 2 | - | - |
ORAI1 | p.T117I | Missense | SNP | 0.549 | 2 | - | - |
ORAI2 | - | - | - | - | 3 | Gain | - |
ORC4 | p.Q410* | Nonsense | SNP | 0.455 | 2 | - | - |
ORC5 | p.P320S | Missense | SNP | 0.456 | 3 | Gain | - |
ORM1 | - | - | - | - | 3 | Gain | - |
ORM2 | - | - | - | - | 3 | Gain | - |
OS9 | p.P537S | Missense | SNP | 0.600 | 2 | - | - |
OSBPL10 | p.M516I | Missense | SNP | 0.281 | 1 | Loss | - |
OSBPL11 | - | - | - | - | 3 | Gain | - |
OSBPL3 | - | - | - | - | 3 | Gain | - |
OSCAR | - | - | - | - | 1 | Loss | - |
OSGIN2 | p.D412G | Missense | SNP | 0.272 | 5 | Amp | - |
OSR2 | - | - | - | - | 5 | Amp | - |
OSTF1 | - | - | - | - | 3 | Gain | - |
OSTN | - | - | - | - | 3 | Gain | - |
OTOA | - | - | - | - | 1 | Loss | - |
OTOF | p.E1318K | Missense | SNP | 0.566 | 2 | - | - |
OTOL1 | - | - | - | - | 3 | Gain | - |
OTUD6B | - | - | - | - | 5 | Amp | - |
OVCA2 | - | - | - | - | 1 | Loss | - |
OVOS2 | p.P516S | Missense | SNP | 0.229 | ND | ND | - |
OXA1L | p.L57I | Missense | SNP | 0.484 | 2 | - | - |
OXNAD1 | - | - | - | - | 1 | Loss | - |
OXR1 | - | - | - | - | 5 | Amp | - |
OXSM | - | - | - | - | 1 | Loss | - |
OXSR1 | - | - | - | - | 1 | Loss | - |
OXTR | - | - | - | - | 1 | Loss | - |
P2RX1 | - | - | - | - | 1 | Loss | - |
P2RX5 | - | - | - | - | 1 | Loss | - |
P2RX5-TAX1BP3 | - | - | - | - | 1 | Loss | - |
P2RY1 | p.H79Y | Missense | SNP | 0.753 | 3 | Gain | - |
P2RY12 | - | - | - | - | 3 | Gain | - |
P2RY13 | - | - | - | - | 3 | Gain | - |
P2RY14 | - | - | - | - | 3 | Gain | - |
P3H2 | - | - | - | - | 3 | Gain | - |
P4HA2 | - | - | - | - | 1 | Loss | - |
P4HTM | - | - | - | - | 1 | Loss | - |
PABPC1 | - | - | - | - | 5 | Amp | - |
PADI4 | p.G4E | Missense | SNP | 0.406 | 2 | - | - |
PAEP | - | - | - | - | 3 | Gain | - |
PAFAH1B1 | - | - | - | - | 1 | Loss | - |
PAG1 | - | - | - | - | 5 | Amp | - |
PAIP2 | - | - | - | - | 1 | Loss | - |
PAK2 | p.P448L | Missense | SNP | 0.726 | 3 | Gain | - |
PAK5 | p.F525L | Missense | SNP | 0.559 | 2 | - | - |
PALM | - | - | - | - | 1 | Loss | - |
PALM2 | - | - | - | - | 3 | Gain | - |
PALM2-AKAP2 | p.P257T | Missense | SNP | 0.396 | 3 | Gain | - |
PANK3 | - | - | - | - | 1 | Loss | - |
PAPOLB | - | - | - | - | 3 | Gain | - |
PAPPA | - | - | - | - | 3 | Gain | - |
PAPPA2 | p.P647L p.E1581K | Missense Missense | SNP SNP | 0.602 0.559 | 2 | - | - |
PAQR9 | - | - | - | - | 3 | Gain | - |
PARL | - | - | - | - | 3 | Gain | - |
PARP10 | - | - | - | - | 6 | Amp | - |
PARP12 | - | - | - | - | 3 | Gain | - |
PARP14 | - | - | - | - | 3 | Gain | - |
PARP15 | p.X411_splice | Splice_Site | SNP | 0.237 | 3 | Gain | - |
PARP3 | - | - | - | - | 1 | Loss | - |
PARP9 | - | - | - | - | 3 | Gain | - |
PAX4 | - | - | - | - | 3 | Gain | - |
PAX5 | - | - | - | - | 1 | Loss | - |
PAXIP1 | - | - | - | - | 3 | Gain | - |
PAXX | - | - | - | - | 3 | Gain | - |
PBRM1 | - | - | - | - | 1 | Loss | - |
PBX3 | - | - | - | - | 3 | Gain | - |
PBX4 | - | - | - | - | 1 | Loss | - |
PCBD2 | - | - | - | - | 1 | Loss | - |
PCBP4 | - | - | - | - | 1 | Loss | - |
PCCB | - | - | - | - | 3 | Gain | - |
PCDH1 | - | - | - | - | 1 | Loss | - |
PCDH12 | - | - | - | - | 1 | Loss | - |
PCDH8 | p.P1038S | Missense | SNP | 0.504 | 2 | - | - |
PCDH9 | p.G1226* | Nonsense | SNP | 0.471 | 2 | - | - |
PCDHA10 | p.H31N | Missense | SNP | 0.625 | 2 | - | - |
PCDHA13 | p.A167T | Missense | SNP | 0.624 | 2 | - | - |
PCDHA2 | p.A363T p.E444K | Missense Missense | SNP SNP | 0.319 0.416 | 2 | - | - |
PCDHA3 | p.H294Y | Missense | SNP | 0.313 | 2 | - | - |
PCDHA6 | p.G430E | Missense | SNP | 0.791 | 2 | - | - |
PCDHA9 | p.E94K | Missense | SNP | 0.426 | 2 | - | - |
PCDHB1 | p.S544G | Missense | SNP | 0.638 | 2 | - | - |
PCDHB11 | p.S213F p.S667F | Missense Missense | SNP SNP | 0.231 0.562 | 2 | - | - |
PCDHB2 | p.E96K | Missense | SNP | 0.363 | 2 | - | - |
PCDHB6 | p.P731S p.P773S | Missense Missense | SNP SNP | 0.450 0.477 | 2 | - | - |
PCDHB8 | p.D480N | Missense | SNP | 0.438 | 2 | - | - |
PCDHGA12 | p.P669S | Missense | SNP | 0.366 | 2 | - | - |
PCDHGA4 | p.D40N p.P184S | Missense Missense | SNP SNP | 0.188 0.335 | 2 | - | - |
PCDHGA6 | p.N81K | Missense | SNP | 0.333 | 2 | - | - |
PCDHGB1 | p.V667E | Missense | SNP | 0.601 | 2 | - | - |
PCDHGB2 | p.S503F | Missense | SNP | 0.702 | 2 | - | - |
PCED1A | p.E364K | Missense | SNP | 0.349 | 2 | - | - |
PCGF1 | - | - | - | - | 1 | Loss | - |
PCLO | p.P4539S | Missense | SNP | 0.467 | 3 | Gain | - |
PCM1 | p.X1784_splice | Splice_Site | SNP | 0.444 | 2 | - | - |
PCMTD1 | - | - | - | - | 5 | Amp | - |
PCMTD2 | p.Q159* | Nonsense | SNP | 0.590 | 2 | - | - |
PCNP | - | - | - | - | 3 | Gain | - |
PCNT | p.R2663C | Missense | SNP | 0.577 | 2 | - | - |
PCNX2 | p.P429S | Missense | SNP | 0.531 | 2 | - | - |
PCOLCE | p.W65* | Nonsense | SNP | 0.442 | 3 | Gain | - |
PCOLCE2 | - | - | - | - | 3 | Gain | - |
PCP2 | - | - | - | - | 1 | Loss | - |
PCSK4 | - | - | - | - | 1 | Loss | - |
PCSK5 | p.K708N | Missense | SNP | 0.063 | 3 | Gain | - |
PCYOX1L | - | - | - | - | 1 | Loss | - |
PCYT1A | - | - | - | - | 3 | Gain | - |
PDAP1 | - | - | - | - | 3 | Gain | - |
PDCD10 | - | - | - | - | 3 | Gain | - |
PDCD11 | p.L399F | Missense | SNP | 0.437 | 2 | - | - |
PDCD1LG2 | - | - | - | - | 1 | Loss | - |
PDCD6IP | - | - | - | - | 1 | Loss | - |
PDCL | - | - | - | - | 3 | Gain | - |
PDE12 | - | - | - | - | 1 | Loss | - |
PDE1C | - | - | - | - | 3 | Gain | - |
PDE2A | p.F667Y | Missense | SNP | 0.509 | 2 | - | - |
PDE3B | p.H764N | Missense | SNP | 0.533 | 2 | - | - |
PDE4DIP | p.L921F | Missense | SNP | 0.394 | 2 | - | - |
PDE6A | - | - | - | - | 1 | Loss | - |
PDE6G | p.L49F | Missense | SNP | 0.250 | 2 | - | - |
PDE7A | - | - | - | - | 5 | Amp | - |
PDGFA | - | - | - | - | 3 | Gain | - |
PDGFRB | p.S650L | Missense | SNP | 0.383 | 1 | Loss | - |
PDHA2 | p.P314S | Missense | SNP | 0.694 | 2 | - | - |
PDHB | - | - | - | - | 1 | Loss | - |
PDIA2 | p.E405K | Missense | SNP | 0.271 | 2 | - | - |
PDIA4 | - | - | - | - | 3 | Gain | - |
PDIA5 | - | - | - | - | 3 | Gain | - |
PDK4 | - | - | - | - | 3 | Gain | - |
PDLIM3 | - | - | - | - | 1 | Loss | - |
PDLIM4 | - | - | - | - | 1 | Loss | - |
PDLIM7 | - | - | - | - | 1 | Loss | - |
PDP1 | - | - | - | - | 5 | Amp | - |
PDYN | p.P71S | Missense | SNP | 0.375 | 2 | - | - |
PDZD2 | p.S1386F | Missense | SNP | 0.467 | 2 | - | - |
PDZRN3 | - | - | - | - | 1 | Loss | - |
PEAK3 | - | - | - | - | 1 | Loss | - |
PEBP4 | p.K36E | Missense | SNP | 0.705 | 2 | - | - |
PEG10 | - | - | - | - | 3 | Gain | - |
PEG3 | p.K1339G | Missense | MNP | 0.495 | 1 | Loss | - |
PELP1 | - | - | - | - | 1 | Loss | - |
PEMT | - | - | - | - | 1 | Loss | - |
PENK | - | - | - | - | 5 | Amp | - |
PER1 | - | - | - | - | 1 | Loss | - |
PET100 | - | - | - | - | 1 | Loss | - |
PEX1 | - | - | - | - | 3 | Gain | - |
PEX11G | - | - | - | - | 1 | Loss | - |
PEX2 | - | - | - | - | 5 | Amp | - |
PEX3 | p.E211K | Missense | SNP | 0.349 | 2 | - | - |
PEX5L | - | - | - | - | 3 | Gain | - |
PFAS | - | - | - | - | 1 | Loss | - |
PFDN1 | - | - | - | - | 1 | Loss | - |
PFKFB4 | - | - | - | - | 1 | Loss | - |
PFN1 | - | - | - | - | 1 | Loss | - |
PFN2 | - | - | - | - | 3 | Gain | - |
PFN3 | - | - | - | - | 1 | Loss | - |
PGAM2 | p.G34E | Missense | SNP | 0.480 | 3 | Gain | - |
PGAP2 | p.L25F | Missense | SNP | 0.505 | 2 | - | - |
PGBD2 | - | - | - | - | 3 | Gain | - |
PGGT1B | - | - | - | - | 1 | Loss | - |
PGLYRP1 | - | - | - | - | 1 | Loss | - |
PGLYRP4 | p.G220R | Missense | SNP | 0.437 | 2 | - | - |
PGM5 | - | - | - | - | 3 | Gain | - |
PGPEP1 | - | - | - | - | 1 | Loss | - |
PHACTR4 | p.P395L | Missense | SNP | 0.512 | 2 | - | - |
PHAX | - | - | - | - | 1 | Loss | - |
PHC3 | - | - | - | - | 3 | Gain | - |
PHF14 | - | - | - | - | 3 | Gain | - |
PHF19 | - | - | - | - | 3 | Gain | - |
PHF2 | - | - | - | - | 3 | Gain | - |
PHF20L1 | p.E14Q p.E299G | Missense Missense | SNP SNP | 0.171 0.191 | 5 | Amp | - |
PHF21A | p.G289R | Missense | SNP | 0.398 | 2 | - | - |
PHF23 | - | - | - | - | 1 | Loss | - |
PHF24 | - | - | - | - | 1 | Loss | - |
PHF7 | - | - | - | - | 1 | Loss | - |
PHKG1 | - | - | - | - | 3 | Gain | - |
PHLDB2 | - | - | - | - | 3 | Gain | - |
PHLDB3 | p.E147K | Missense | SNP | 0.622 | 2 | - | - |
PHLPP1 | p.E1016K | Missense | SNP | 0.494 | 2 | - | - |
PHPT1 | - | - | - | - | 3 | Gain | - |
PHRF1 | p.P741L | Missense | SNP | 0.493 | 2 | - | - |
PHTF2 | - | - | - | - | 3 | Gain | - |
PHYHD1 | - | - | - | - | 3 | Gain | - |
PHYKPL | - | - | - | - | 1 | Loss | - |
PI15 | - | - | - | - | 5 | Amp | - |
PIAS2 | p.F179L p.E176K | Missense Missense | SNP SNP | 0.381 0.611 | 2 | - | - |
PIAS4 | - | - | - | - | 1 | Loss | - |
PIGL | - | - | - | - | 1 | Loss | - |
PIGO | - | - | - | - | 1 | Loss | - |
PIGW | p.L121Hfs*13 | Frame_Shift_Del | DEL | 0.772 | 2 | - | - |
PIGX | - | - | - | - | 3 | Gain | - |
PIGZ | - | - | - | - | 3 | Gain | - |
PIH1D1 | - | - | - | - | 1 | Loss | - |
PIK3CA | - | - | - | - | 3 | Gain | - |
PIK3CB | - | - | - | - | 3 | Gain | - |
PIK3CD | p.P305L | Missense | SNP | 0.568 | 2 | - | - |
PIK3CG | p.A84T | Missense | SNP | 0.429 | 3 | Gain | - |
PIK3R2 | p.D557Y | Missense | SNP | 0.485 | 2 | - | - |
PIK3R4 | - | - | - | - | 3 | Gain | - |
PIK3R5 | - | - | - | - | 1 | Loss | - |
PIK3R6 | - | - | - | - | 1 | Loss | - |
PILRA | - | - | - | - | 3 | Gain | - |
PILRB | - | - | - | - | 3 | Gain | - |
PIMREG | - | - | - | - | 1 | Loss | - |
PIP | - | - | - | - | 3 | Gain | - |
PIP4P2 | - | - | - | - | 5 | Amp | - |
PIP5K1B | - | - | - | - | 3 | Gain | - |
PIP5K1C | - | - | - | - | 1 | Loss | - |
PIP5KL1 | - | - | - | - | 3 | Gain | - |
PIRT | - | - | - | - | 1 | Loss | - |
PITPNA | - | - | - | - | 1 | Loss | - |
PITPNM2 | p.A275V | Missense | SNP | 0.411 | 2 | - | - |
PITPNM3 | - | - | - | - | 1 | Loss | - |
PITX1 | - | - | - | - | 1 | Loss | - |
PKD1L1 | - | - | - | - | 3 | Gain | - |
PKD2L2 | - | - | - | - | 1 | Loss | - |
PKDREJ | p.H1268Y | Missense | SNP | 0.520 | 2 | - | - |
PKHD1L1 | p.S2867F | Missense | SNP | 0.208 | 5 | Amp | - |
PKIA | - | - | - | - | 5 | Amp | - |
PKN3 | - | - | - | - | 3 | Gain | - |
PKP4 | p.E633Q | Missense | SNP | 0.188 | 2 | - | - |
PLA1A | - | - | - | - | 3 | Gain | - |
PLA2G15 | p.G135S | Missense | SNP | 0.297 | 2 | - | - |
PLA2G2F | p.D101N | Missense | SNP | 0.393 | 2 | - | - |
PLA2G4C | p.P446L | Missense | SNP | 0.267 | 1 | Loss | - |
PLA2R1 | p.L429F | Missense | SNP | 0.398 | 2 | - | - |
PLAA | - | - | - | - | 1 | Loss | - |
PLAC8L1 | - | - | - | - | 1 | Loss | - |
PLAG1 | - | - | - | - | 5 | Amp | - |
PLBD2 | p.S506F | Missense | SNP | 0.579 | 2 | - | - |
PLCB1 | p.Y334F | Missense | SNP | 0.513 | 2 | - | - |
PLCB4 | p.K1098R | Missense | SNP | 0.370 | 2 | - | - |
PLCD1 | - | - | - | - | 1 | Loss | - |
PLCH1 | - | - | - | - | 3 | Gain | - |
PLCL1 | p.R459Q | Missense | SNP | 0.406 | 2 | - | - |
PLCL2 | - | - | - | - | 1 | Loss | - |
PLCXD2 | - | - | - | - | 3 | Gain | - |
PLD1 | - | - | - | - | 3 | Gain | - |
PLD2 | p.D138N | Missense | SNP | 0.304 | 1 | Loss | - |
PLD5 | - | - | - | - | 3 | Gain | - |
PLD6 | - | - | - | - | 1 | Loss | - |
PLEC | p.L3584F | Missense | SNP | 0.230 | 6 | Amp | - |
PLEKHA4 | - | - | - | - | 1 | Loss | - |
PLEKHA6 | p.Q405* | Nonsense | SNP | 0.523 | 2 | - | - |
PLEKHA8 | - | - | - | - | 3 | Gain | - |
PLEKHF2 | - | - | - | - | 5 | Amp | - |
PLEKHG2 | p.R1348Q | Missense | SNP | 0.528 | 2 | - | - |
PLEKHG4 | p.L979P | Missense | SNP | 0.641 | 2 | - | - |
PLEKHG5 | p.M481I p.K132* | Missense Nonsense | SNP SNP | 0.376 0.588 | 2 | - | - |
PLEKHJ1 | - | - | - | - | 1 | Loss | - |
PLEKHO1 | p.G328R | Missense | SNP | 0.605 | 2 | - | - |
PLGRKT | - | - | - | - | 1 | Loss | - |
PLIN2 | - | - | - | - | 1 | Loss | - |
PLIN3 | p.T328I | Missense | SNP | 0.204 | 1 | Loss | - |
PLIN4 | - | - | - | - | 1 | Loss | - |
PLIN5 | - | - | - | - | 1 | Loss | - |
PLK3 | p.R296Q | Missense | SNP | 0.508 | 2 | - | - |
PLK5 | - | - | - | - | 1 | Loss | - |
PLOD2 | - | - | - | - | 3 | Gain | - |
PLOD3 | - | - | - | - | 3 | Gain | - |
PLPP2 | - | - | - | - | 1 | Loss | - |
PLPP5 | p.G2R | Missense | SNP | 0.345 | 2 | - | - |
PLPP6 | - | - | - | - | 1 | Loss | - |
PLPP7 | - | - | - | - | 3 | Gain | - |
PLPPR1 | - | - | - | - | 3 | Gain | - |
PLPPR3 | - | - | - | - | 1 | Loss | - |
PLS1 | - | - | - | - | 3 | Gain | - |
PLSCR1 | - | - | - | - | 3 | Gain | - |
PLSCR2 | p.Q5* | Nonsense | SNP | 0.325 | 3 | Gain | - |
PLSCR3 | - | - | - | - | 1 | Loss | - |
PLSCR4 | - | - | - | - | 3 | Gain | - |
PLSCR5 | - | - | - | - | 3 | Gain | - |
PLXNA1 | - | - | - | - | 3 | Gain | - |
PLXNA4 | - | - | - | - | 3 | Gain | - |
PLXNB1 | p.E1573K | Missense | SNP | 0.588 | 1 | Loss | - |
PLXND1 | p.S1286F | Missense | SNP | 0.318 | 3 | Gain | - |
PM20D2 | - | - | - | - | 1 | Loss | - |
PML | p.V333M | Missense | SNP | 0.429 | 2 | - | - |
PMP2 | - | - | - | - | 5 | Amp | - |
PMP22 | - | - | - | - | 1 | Loss | - |
PMPCA | - | - | - | - | 3 | Gain | - |
PMPCB | - | - | - | - | 3 | Gain | - |
PMS2 | - | - | - | - | 3 | Gain | - |
PNKP | - | - | - | - | 1 | Loss | - |
PNMA8A | - | - | - | - | 1 | Loss | - |
PNMA8B | - | - | - | - | 1 | Loss | - |
PNPLA6 | - | - | - | - | 1 | Loss | - |
PNPLA7 | - | - | - | - | 3 | Gain | - |
PNPLA8 | - | - | - | - | 3 | Gain | - |
PNRC1 | - | - | - | - | 1 | Loss | - |
POC1A | - | - | - | - | 1 | Loss | - |
PODXL | - | - | - | - | 3 | Gain | - |
PODXL2 | - | - | - | - | 3 | Gain | - |
POGLUT1 | - | - | - | - | 3 | Gain | - |
POLD1 | - | - | - | - | 1 | Loss | - |
POLD2 | - | - | - | - | 3 | Gain | - |
POLDIP3 | p.P406L | Missense | SNP | 0.262 | 2 | - | - |
POLE3 | - | - | - | - | 3 | Gain | - |
POLM | - | - | - | - | 3 | Gain | - |
POLQ | - | - | - | - | 3 | Gain | - |
POLR1E | - | - | - | - | 1 | Loss | - |
POLR2A | - | - | - | - | 1 | Loss | - |
POLR2E | - | - | - | - | 1 | Loss | - |
POLR2H | - | - | - | - | 3 | Gain | - |
POLR2J | - | - | - | - | 3 | Gain | - |
POLR2J2 | - | - | - | - | 3 | Gain | - |
POLR2J3 | - | - | - | - | 3 | Gain | - |
POLR2K | - | - | - | - | 5 | Amp | - |
POLR3B | p.P673S | Missense | SNP | 0.422 | 2 | - | - |
POLRMT | - | - | - | - | 1 | Loss | - |
POM121 | - | - | - | - | 3 | Gain | - |
POM121C | - | - | - | - | 3 | Gain | - |
POM121L12 | - | - | - | - | 3 | Gain | - |
POM121L2 | p.I286T | Missense | SNP | 1.000 | 2 | - | - |
POMGNT2 | - | - | - | - | 1 | Loss | - |
POMT1 | - | - | - | - | 3 | Gain | - |
POMT2 | p.P363S | Missense | SNP | 0.447 | 2 | - | - |
POMZP3 | - | - | - | - | 3 | Gain | - |
PON1 | - | - | - | - | 3 | Gain | - |
PON2 | - | - | - | - | 3 | Gain | - |
PON3 | - | - | - | - | 3 | Gain | - |
POP1 | - | - | - | - | 5 | Amp | - |
POP7 | - | - | - | - | 3 | Gain | - |
POPDC2 | - | - | - | - | 3 | Gain | - |
POR | - | - | - | - | 3 | Gain | - |
PORCN | p.E263K | Missense | SNP | 1.000 | ND | ND | - |
POT1 | p.E128G | Missense | SNP | 0.508 | 3 | Gain | - |
POU1F1 | - | - | - | - | 1 | Loss | - |
POU2AF1 | p.P101L | Missense | SNP | 0.411 | 2 | - | - |
POU4F3 | p.S67F | Missense | SNP | 0.523 | 1 | Loss | - |
POU5F1B | p.Q282* | Nonsense | SNP | 0.702 | 5 | Amp | - |
POU6F2 | - | - | - | - | 3 | Gain | - |
PP2D1 | - | - | - | - | 1 | Loss | - |
PPARG | - | - | - | - | 1 | Loss | - |
PPARGC1B | p.L594F | Missense | SNP | 0.303 | 1 | Loss | - |
PPDPFL | - | - | - | - | 5 | Amp | - |
PPFIA3 | - | - | - | - | 1 | Loss | - |
PPIA | - | - | - | - | 3 | Gain | - |
PPIC | - | - | - | - | 1 | Loss | - |
PPM1E | p.W620* | Nonsense | SNP | 0.236 | 2 | - | - |
PPM1L | - | - | - | - | 3 | Gain | - |
PPM1M | - | - | - | - | 1 | Loss | - |
PPM1N | - | - | - | - | 1 | Loss | - |
PPOX | p.R230C | Missense | SNP | 0.632 | 2 | - | - |
PPP1R13L | p.Q409* | Nonsense | SNP | 0.783 | 1 | Loss | - |
PPP1R15A | - | - | - | - | 1 | Loss | - |
PPP1R16A | - | - | - | - | 6 | Amp | - |
PPP1R16B | p.R291K | Missense | SNP | 0.287 | 2 | - | - |
PPP1R17 | - | - | - | - | 3 | Gain | - |
PPP1R2 | - | - | - | - | 3 | Gain | - |
PPP1R26 | - | - | - | - | 3 | Gain | - |
PPP1R2B | - | - | - | - | 1 | Loss | - |
PPP1R35 | - | - | - | - | 3 | Gain | - |
PPP1R37 | - | - | - | - | 1 | Loss | - |
PPP1R3A | - | - | - | - | 3 | Gain | - |
PPP1R3F | p.P696L | Missense | SNP | 1.000 | ND | ND | - |
PPP1R42 | - | - | - | - | 5 | Amp | - |
PPP1R9A | p.P1213S | Missense | SNP | 0.468 | 3 | Gain | - |
PPP2CA | - | - | - | - | 1 | Loss | - |
PPP2R1A | - | - | - | - | 1 | Loss | - |
PPP2R2B | - | - | - | - | 1 | Loss | - |
PPP2R3A | - | - | - | - | 3 | Gain | - |
PPP3R2 | - | - | - | - | 3 | Gain | - |
PPP4R2 | - | - | - | - | 1 | Loss | - |
PPP4R3CP | p.G79D | Missense | SNP | 1.000 | ND | ND | - |
PPP5C | - | - | - | - | 1 | Loss | - |
PPP5D1 | - | - | - | - | 1 | Loss | - |
PPP6C | - | - | - | - | 3 | Gain | - |
PPP6R3 | p.S202L | Missense | SNP | 0.426 | 2 | - | - |
PQLC2L | - | - | - | - | 3 | Gain | - |
PRAME | p.P486S | Missense | SNP | 0.462 | 2 | - | - |
PRAMEF27 | p.P67S | Missense | SNP | 0.478 | ND | ND | - |
PRAMEF7 | p.G328D | Missense | SNP | 0.559 | 2 | - | - |
PRAMEF8 | p.D20N | Missense | SNP | 0.588 | 2 | - | - |
PRB4 | p.G107E | Missense | SNP | 0.438 | 2 | - | - |
PRDM10 | p.P209L | Missense | SNP | 0.466 | 2 | - | - |
PRDM12 | - | - | - | - | 3 | Gain | - |
PRDM14 | - | - | - | - | 5 | Amp | - |
PRDM6 | - | - | - | - | 1 | Loss | - |
PRDM7 | p.N126I | Missense | SNP | 0.311 | 2 | - | - |
PRDM9 | p.E132K | Missense | SNP | 0.531 | 2 | - | - |
PRELID1 | - | - | - | - | 1 | Loss | - |
PRELID2 | - | - | - | - | 1 | Loss | - |
PREX1 | p.G603E p.P439S | Missense Missense | SNP SNP | 0.527 0.645 | 2 | - | - |
PREX2 | p.H1404Ifs*9 | Frame_Shift_Del | DEL | 0.217 | 5 | Amp | - |
PRICKLE1 | p.P58S | Missense | SNP | 0.476 | 2 | - | - |
PRICKLE2 | - | - | - | - | 1 | Loss | - |
PRIMPOL | - | - | - | - | 1 | Loss | - |
PRKACG | p.D100N | Missense | SNP | 0.321 | 3 | Gain | - |
PRKAG2 | - | - | - | - | 3 | Gain | - |
PRKAR1B | - | - | - | - | 3 | Gain | - |
PRKAR2A | p.H165Y | Missense | SNP | 0.344 | 1 | Loss | - |
PRKAR2B | - | - | - | - | 3 | Gain | - |
PRKCD | - | - | - | - | 1 | Loss | - |
PRKCG | - | - | - | - | 1 | Loss | - |
PRKCI | - | - | - | - | 3 | Gain | - |
PRKCQ | p.E636K | Missense | SNP | 0.401 | 2 | - | - |
PRKCZ | p.W434* | Nonsense | SNP | 0.454 | 2 | - | - |
PRKD2 | - | - | - | - | 1 | Loss | - |
PRKDC | p.A1928T;p.M1927I | Missense | MNP | 0.249 | 5 | Amp | - |
PRKG2 | p.K502T | Missense | SNP | 0.364 | 2 | - | - |
PRKRIP1 | - | - | - | - | 3 | Gain | - |
PRMT1 | - | - | - | - | 1 | Loss | - |
PROB1 | - | - | - | - | 1 | Loss | - |
PROK2 | - | - | - | - | 1 | Loss | - |
PROP1 | - | - | - | - | 1 | Loss | - |
PROS1 | - | - | - | - | 3 | Gain | - |
PRPF31 | - | - | - | - | 1 | Loss | - |
PRPF4 | p.W392* | Nonsense | SNP | 0.655 | 3 | Gain | - |
PRPF8 | p.P1313L | Missense | SNP | 0.691 | 1 | Loss | - |
PRPS1L1 | - | - | - | - | 3 | Gain | - |
PRPSAP2 | - | - | - | - | 1 | Loss | - |
PRR12 | - | - | - | - | 1 | Loss | - |
PRR15 | - | - | - | - | 3 | Gain | - |
PRR16 | - | - | - | - | 1 | Loss | - |
PRR19 | p.R119L | Missense | SNP | 0.440 | 2 | - | - |
PRR22 | - | - | - | - | 1 | Loss | - |
PRR23A | - | - | - | - | 3 | Gain | - |
PRR23B | - | - | - | - | 3 | Gain | - |
PRR23C | - | - | - | - | 3 | Gain | - |
PRR36 | - | - | - | - | 1 | Loss | - |
PRR7 | - | - | - | - | 1 | Loss | - |
PRRC1 | - | - | - | - | 1 | Loss | - |
PRRC2A | p.R756Q p.K1253* | Missense Nonsense | SNP SNP | 1.000 1.000 | 2 | - | - |
PRRC2B | - | - | - | - | 3 | Gain | - |
PRRC2C | p.D756N | Missense | SNP | 0.347 | 2 | - | - |
PRRG2 | - | - | - | - | 1 | Loss | - |
PRRT1B | - | - | - | - | 3 | Gain | - |
PRRT3 | - | - | - | - | 1 | Loss | - |
PRRT4 | - | - | - | - | 3 | Gain | - |
PRRX2 | - | - | - | - | 3 | Gain | - |
PRSS1 | - | - | - | - | 3 | Gain | - |
PRSS2 | - | - | - | - | 3 | Gain | - |
PRSS3 | - | - | - | - | 1 | Loss | - |
PRSS35 | p.P143L p.S236F | Missense Missense | SNP SNP | 0.586 0.362 | 2 | - | - |
PRSS37 | - | - | - | - | 3 | Gain | - |
PRSS42 | - | - | - | - | 1 | Loss | - |
PRSS45 | - | - | - | - | 1 | Loss | - |
PRSS50 | - | - | - | - | 1 | Loss | - |
PRSS57 | - | - | - | - | 1 | Loss | - |
PRSS58 | - | - | - | - | 3 | Gain | - |
PRTN3 | - | - | - | - | 1 | Loss | - |
PRUNE2 | p.R2227K | Missense | SNP | 0.605 | 3 | Gain | - |
PRXL2C | - | - | - | - | 3 | Gain | - |
PSAT1 | - | - | - | - | 3 | Gain | - |
PSCA | - | - | - | - | 6 | Amp | - |
PSD | p.P343S | Missense | SNP | 0.538 | 2 | - | - |
PSD2 | - | - | - | - | 1 | Loss | - |
PSIP1 | - | - | - | - | 1 | Loss | - |
PSKH2 | - | - | - | - | 5 | Amp | - |
PSMA2 | - | - | - | - | 3 | Gain | - |
PSMB6 | - | - | - | - | 1 | Loss | - |
PSMB7 | - | - | - | - | 3 | Gain | - |
PSMC2 | - | - | - | - | 3 | Gain | - |
PSMD2 | - | - | - | - | 3 | Gain | - |
PSMD5 | - | - | - | - | 3 | Gain | - |
PSMD6 | - | - | - | - | 1 | Loss | - |
PSMG3 | - | - | - | - | 3 | Gain | - |
PSPH | - | - | - | - | 3 | Gain | - |
PSPN | - | - | - | - | 1 | Loss | - |
PTAR1 | - | - | - | - | 3 | Gain | - |
PTBP1 | - | - | - | - | 1 | Loss | - |
PTBP3 | - | - | - | - | 3 | Gain | - |
PTCD1 | - | - | - | - | 3 | Gain | - |
PTCH1 | p.R783W | Missense | SNP | 0.340 | 3 | Gain | - |
PTCHD1 | p.G331R | Missense | SNP | 1.000 | ND | ND | - |
PTDSS1 | p.D441N | Missense | SNP | 0.236 | 5 | Amp | - |
PTGDR2 | p.A250T | Missense | SNP | 0.567 | 2 | - | - |
PTGDS | - | - | - | - | 3 | Gain | - |
PTGES | - | - | - | - | 3 | Gain | - |
PTGES2 | - | - | - | - | 3 | Gain | - |
PTGIR | - | - | - | - | 1 | Loss | - |
PTGR1 | - | - | - | - | 3 | Gain | - |
PTGS1 | p.S529T | Missense | SNP | 0.361 | 3 | Gain | - |
PTH | p.D24N | Missense | SNP | 0.463 | 2 | - | - |
PTH1R | - | - | - | - | 1 | Loss | - |
PTH2 | - | - | - | - | 1 | Loss | - |
PTK2 | - | - | - | - | 5 | Amp | - |
PTK7 | p.Y688F | Missense | SNP | 0.551 | 2 | - | - |
PTN | - | - | - | - | 3 | Gain | - |
PTOV1 | - | - | - | - | 1 | Loss | - |
PTP4A3 | - | - | - | - | 6 | Amp | - |
PTPA | - | - | - | - | 3 | Gain | - |
PTPDC1 | - | - | - | - | 3 | Gain | - |
PTPN12 | - | - | - | - | 3 | Gain | - |
PTPN14 | p.P427S p.P416S | Missense Missense | SNP SNP | 0.360 0.295 | 2 | - | - |
PTPN23 | - | - | - | - | 1 | Loss | - |
PTPN3 | - | - | - | - | 3 | Gain | - |
PTPN4 | p.Q343* | Nonsense | SNP | 0.533 | 2 | - | - |
PTPN5 | p.X334_splice | Splice_Site | SNP | 0.459 | 2 | - | - |
PTPRB | p.X1796_splice p.E1251K p.G216E | Splice_Site Missense Missense | SNP SNP SNP | 0.451 0.490 0.440 | 2 | - | - |
PTPRD | - | - | - | - | 1 | Loss | - |
PTPRF | p.Q1625* | Nonsense | SNP | 0.520 | 2 | - | - |
PTPRG | - | - | - | - | 1 | Loss | - |
PTPRJ | p.S724F | Missense | SNP | 0.434 | 2 | - | - |
PTPRN2 | - | - | - | - | 3 | Gain | - |
PTPRS | p.R1829W | Missense | SNP | 0.337 | 1 | Loss | - |
PTPRZ1 | - | - | - | - | 3 | Gain | - |
PTRH1 | - | - | - | - | 3 | Gain | - |
PTX3 | - | - | - | - | 3 | Gain | - |
PUF60 | - | - | - | - | 6 | Amp | - |
PUM1 | p.G674K | Missense | MNP | 0.449 | 2 | - | - |
PUM3 | - | - | - | - | 1 | Loss | - |
PURA | - | - | - | - | 1 | Loss | - |
PURB | - | - | - | - | 3 | Gain | - |
PUS7 | - | - | - | - | 3 | Gain | - |
PVR | - | - | - | - | 1 | Loss | - |
PVRIG | - | - | - | - | 3 | Gain | - |
PXDN | p.T682L | Missense | MNP | 0.524 | 2 | - | - |
PXDNL | p.A750V | Missense | SNP | 0.273 | 5 | Amp | - |
PXK | - | - | - | - | 1 | Loss | - |
PXYLP1 | - | - | - | - | 3 | Gain | - |
PYCR3 | - | - | - | - | 6 | Amp | - |
PYDC2 | - | - | - | - | 3 | Gain | - |
PYGM | p.F167Y | Missense | SNP | 0.450 | 2 | - | - |
PYY | p.G65E | Missense | SNP | 0.258 | 2 | - | - |
QARS | - | - | - | - | 1 | Loss | - |
QPCTL | - | - | - | - | 1 | Loss | - |
QRFP | - | - | - | - | 3 | Gain | - |
QRICH1 | - | - | - | - | 1 | Loss | - |
QRICH2 | p.S994F | Missense | SNP | 0.333 | 2 | - | - |
QSOX1 | p.P367L | Missense | SNP | 0.463 | 2 | - | - |
QSOX2 | - | - | - | - | 3 | Gain | - |
QTRT2 | - | - | - | - | 3 | Gain | - |
R3HDM4 | - | - | - | - | 1 | Loss | - |
RAB11B | p.P191L | Missense | MNP | 0.500 | 2 | - | - |
RAB11FIP5 | p.G709R | Missense | SNP | 0.471 | 2 | - | - |
RAB13 | p.E108K | Missense | SNP | 0.434 | 2 | - | - |
RAB14 | - | - | - | - | 3 | Gain | - |
RAB19 | - | - | - | - | 3 | Gain | - |
RAB24 | - | - | - | - | 1 | Loss | - |
RAB2A | - | - | - | - | 5 | Amp | - |
RAB43 | - | - | - | - | 3 | Gain | - |
RAB5A | - | - | - | - | 1 | Loss | - |
RAB6B | - | - | - | - | 3 | Gain | - |
RAB7A | - | - | - | - | 3 | Gain | - |
RABEP1 | p.L807S | Missense | SNP | 0.708 | 1 | Loss | - |
RABEPK | - | - | - | - | 3 | Gain | - |
RABGAP1 | - | - | - | - | 3 | Gain | - |
RABGEF1 | - | - | - | - | 3 | Gain | - |
RABL3 | - | - | - | - | 3 | Gain | - |
RABL6 | - | - | - | - | 3 | Gain | - |
RAC1 | - | - | - | - | 3 | Gain | - |
RACGAP1 | p.E348K | Missense | SNP | 0.349 | 2 | - | - |
RACK1 | - | - | - | - | 1 | Loss | - |
RAD18 | - | - | - | - | 1 | Loss | - |
RAD21 | - | - | - | - | 5 | Amp | - |
RAD23B | - | - | - | - | 3 | Gain | - |
RAD50 | - | - | - | - | 1 | Loss | - |
RAD52 | p.R278* p.L159F | Nonsense Missense | SNP SNP | 0.471 0.457 | 2 | - | - |
RAD54B | - | - | - | - | 5 | Amp | - |
RAD54L2 | - | - | - | - | 1 | Loss | - |
RADIL | - | - | - | - | 3 | Gain | - |
RAF1 | - | - | - | - | 1 | Loss | - |
RAI1 | - | - | - | - | 1 | Loss | - |
RALA | - | - | - | - | 3 | Gain | - |
RALGAPA2 | p.E575K | Missense | SNP | 0.550 | 2 | - | - |
RALGDS | - | - | - | - | 3 | Gain | - |
RALGPS1 | - | - | - | - | 3 | Gain | - |
RALGPS2 | p.T577_L579del | In_Frame_Del | DEL | 0.389 | 2 | - | - |
RALYL | - | - | - | - | 5 | Amp | - |
RAMP3 | p.E30K | Missense | SNP | 0.482 | 3 | Gain | - |
RANBP17 | - | - | - | - | 1 | Loss | - |
RANBP3 | - | - | - | - | 1 | Loss | - |
RANBP6 | - | - | - | - | 1 | Loss | - |
RANGRF | - | - | - | - | 1 | Loss | - |
RAP1GAP2 | - | - | - | - | 1 | Loss | - |
RAP2B | - | - | - | - | 3 | Gain | - |
RAPGEF1 | - | - | - | - | 3 | Gain | - |
RAPGEF2 | p.G937S | Missense | SNP | 0.732 | 2 | - | - |
RAPGEF5 | - | - | - | - | 3 | Gain | - |
RAPGEF6 | - | - | - | - | 1 | Loss | - |
RAPGEFL1 | p.P144S | Missense | SNP | 0.775 | 2 | - | - |
RARA | p.K118Nfs*31 | Frame_Shift_Del | DEL | 0.647 | 2 | - | - |
RARB | - | - | - | - | 1 | Loss | - |
RARRES1 | - | - | - | - | 3 | Gain | - |
RARRES2 | - | - | - | - | 3 | Gain | - |
RARS | - | - | - | - | 1 | Loss | - |
RASA2 | - | - | - | - | 3 | Gain | - |
RASA4 | - | - | - | - | 3 | Gain | - |
RASA4B | - | - | - | - | 3 | Gain | - |
RASAL1 | p.P806S | Missense | SNP | 0.483 | 2 | - | - |
RASD1 | - | - | - | - | 1 | Loss | - |
RASEF | p.M184I | Missense | SNP | 0.621 | 3 | Gain | - |
RASGEF1C | - | - | - | - | 1 | Loss | - |
RASGRF2 | p.H404Y | Missense | SNP | 0.436 | 2 | - | - |
RASGRP3 | p.S387L | Missense | SNP | 0.500 | 2 | - | - |
RASGRP4 | p.P94L | Missense | SNP | 0.562 | 2 | - | - |
RASIP1 | p.A141V | Missense | SNP | 0.727 | 1 | Loss | - |
RASSF1 | - | - | - | - | 1 | Loss | - |
RASSF2 | p.R78* | Nonsense | SNP | 0.551 | 2 | - | - |
RAVER1 | p.P482S p.P146L | Missense Missense | SNP SNP | 0.429 0.441 | 2 | - | - |
RAX2 | - | - | - | - | 1 | Loss | - |
RB1CC1 | - | - | - | - | 5 | Amp | - |
RBAK | - | - | - | - | 3 | Gain | - |
RBAK-RBAKDN | - | - | - | - | 3 | Gain | - |
RBFOX1 | p.G396D | Missense | SNP | 0.411 | 2 | - | - |
RBL2 | p.R493C | Missense | SNP | 0.656 | 2 | - | - |
RBM12B | - | - | - | - | 5 | Amp | - |
RBM15B | - | - | - | - | 1 | Loss | - |
RBM18 | - | - | - | - | 3 | Gain | - |
RBM19 | p.X749_splice | Splice_Site | SNP | 0.459 | 2 | - | - |
RBM22 | - | - | - | - | 1 | Loss | - |
RBM27 | - | - | - | - | 1 | Loss | - |
RBM28 | - | - | - | - | 3 | Gain | - |
RBM33 | - | - | - | - | 3 | Gain | - |
RBM48 | - | - | - | - | 3 | Gain | - |
RBM5 | - | - | - | - | 1 | Loss | - |
RBM6 | p.S101L | Missense | SNP | 0.345 | 1 | Loss | - |
RBMS3 | - | - | - | - | 1 | Loss | - |
RBMX | p.G295S | Missense | SNP | 1.000 | ND | ND | - |
RBMXL2 | p.T55I p.E227K p.G303K | Missense Missense Missense | SNP SNP MNP | 0.472 0.514 0.420 | 2 | - | - |
RBP1 | - | - | - | - | 3 | Gain | - |
RBP2 | - | - | - | - | 3 | Gain | - |
RBSN | - | - | - | - | 1 | Loss | - |
RC3H2 | - | - | - | - | 3 | Gain | - |
RCC1L | - | - | - | - | 3 | Gain | - |
RCL1 | - | - | - | - | 1 | Loss | - |
RCN3 | - | - | - | - | 1 | Loss | - |
RCVRN | - | - | - | - | 1 | Loss | - |
RDH10 | - | - | - | - | 5 | Amp | - |
RDH16 | p.P298L | Missense | SNP | 0.496 | 2 | - | - |
RECK | - | - | - | - | 1 | Loss | - |
RECQL4 | - | - | - | - | 6 | Amp | - |
REEP2 | - | - | - | - | 1 | Loss | - |
REEP6 | - | - | - | - | 1 | Loss | - |
RELB | - | - | - | - | 1 | Loss | - |
RELL2 | - | - | - | - | 1 | Loss | - |
RELN | p.D2842N p.D2652N p.D1364N | Missense Missense Missense | SNP SNP SNP | 0.395 0.538 0.466 | 3 | Gain | - |
REPIN1 | - | - | - | - | 3 | Gain | - |
RETN | - | - | - | - | 1 | Loss | - |
RETNLB | - | - | - | - | 3 | Gain | - |
RETSAT | p.P292S | Missense | SNP | 0.508 | 2 | - | - |
REV1 | p.E106K | Missense | SNP | 0.468 | 2 | - | - |
REX1BD | - | - | - | - | 1 | Loss | - |
REXO1 | p.N862K p.P795S | Missense Missense | SNP SNP | 0.308 0.312 | 1 | Loss | - |
REXO4 | - | - | - | - | 3 | Gain | - |
RFC2 | p.E142K | Missense | SNP | 0.448 | 3 | Gain | - |
RFC4 | - | - | - | - | 3 | Gain | - |
RFK | - | - | - | - | 3 | Gain | - |
RFLNB | - | - | - | - | 1 | Loss | - |
RFT1 | - | - | - | - | 1 | Loss | - |
RFTN1 | - | - | - | - | 1 | Loss | - |
RFWD2 | p.G532N | Missense | MNP | 0.370 | ND | ND | - |
RFX1 | p.S193F | Missense | SNP | 0.432 | 2 | - | - |
RFX2 | - | - | - | - | 1 | Loss | - |
RFX3 | - | - | - | - | 1 | Loss | - |
RFX6 | p.E43K | Missense | SNP | 0.354 | 2 | - | - |
RFXANK | - | - | - | - | 1 | Loss | - |
RGAG4 | p.E308K | Missense | SNP | 0.989 | ND | ND | - |
RGP1 | - | - | - | - | 1 | Loss | - |
RGS14 | - | - | - | - | 1 | Loss | - |
RGS20 | - | - | - | - | 5 | Amp | - |
RGS22 | p.G52E | Missense | SNP | 0.244 | 5 | Amp | - |
RGS3 | p.R459C | Missense | SNP | 0.615 | 3 | Gain | - |
RGS7 | p.P295L | Missense | MNP | 0.595 | 3 | Gain | - |
RHBDD2 | - | - | - | - | 3 | Gain | - |
RHD | p.G263E | Missense | SNP | 0.418 | 2 | - | - |
RHEB | - | - | - | - | 3 | Gain | - |
RHO | p.E232K | Missense | SNP | 0.276 | 3 | Gain | - |
RHOA | - | - | - | - | 1 | Loss | - |
RHPN1 | - | - | - | - | 6 | Amp | - |
RIC1 | - | - | - | - | 1 | Loss | - |
RIDA | - | - | - | - | 5 | Amp | - |
RIF1 | p.S1149F | Missense | SNP | 0.507 | 2 | - | - |
RILP | - | - | - | - | 1 | Loss | - |
RIMS2 | - | - | - | - | 5 | Amp | - |
RINT1 | - | - | - | - | 3 | Gain | - |
RIOX2 | - | - | - | - | 3 | Gain | - |
RIPK2 | - | - | - | - | 5 | Amp | - |
RIPK4 | p.E351Rfs*72 | Frame_Shift_Del | DEL | 0.978 | 2 | - | - |
RLN1 | - | - | - | - | 1 | Loss | - |
RLN2 | - | - | - | - | 1 | Loss | - |
RMDN1 | - | - | - | - | 5 | Amp | - |
RMI1 | p.G79R | Missense | SNP | 0.356 | 3 | Gain | - |
RMND5B | - | - | - | - | 1 | Loss | - |
RNA5-8SN2 | - | - | - | - | ND | ND | RNA5-8SN2--ACTB |
RNASEK | - | - | - | - | 1 | Loss | - |
RNASEK-C17orf49 | - | - | - | - | 1 | Loss | - |
RND2 | p.R90P | Missense | SNP | 0.296 | 2 | - | - |
RNF112 | - | - | - | - | 1 | Loss | - |
RNF123 | - | - | - | - | 1 | Loss | - |
RNF126 | - | - | - | - | 1 | Loss | - |
RNF13 | - | - | - | - | 3 | Gain | - |
RNF130 | - | - | - | - | 1 | Loss | - |
RNF133 | p.D299N | Missense | SNP | 0.499 | 3 | Gain | - |
RNF139 | - | - | - | - | 5 | Amp | - |
RNF14 | - | - | - | - | 1 | Loss | - |
RNF145 | - | - | - | - | 1 | Loss | - |
RNF148 | - | - | - | - | 3 | Gain | - |
RNF150 | p.P330L | Missense | SNP | 0.709 | 2 | - | - |
RNF167 | - | - | - | - | 1 | Loss | - |
RNF168 | - | - | - | - | 3 | Gain | - |
RNF183 | - | - | - | - | 3 | Gain | - |
RNF19A | - | - | - | - | 5 | Amp | - |
RNF20 | - | - | - | - | 3 | Gain | - |
RNF208 | - | - | - | - | 3 | Gain | - |
RNF212B | p.G202E | Missense | SNP | 0.527 | 2 | - | - |
RNF216 | - | - | - | - | 3 | Gain | - |
RNF220 | p.G405W | Missense | SNP | 0.548 | 2 | - | - |
RNF222 | - | - | - | - | 1 | Loss | - |
RNF224 | - | - | - | - | 3 | Gain | - |
RNF225 | - | - | - | - | 1 | Loss | - |
RNF227 | - | - | - | - | 1 | Loss | - |
RNF32 | - | - | - | - | 3 | Gain | - |
RNF38 | p.S37N | Missense | SNP | 1.000 | 1 | Loss | - |
RNF44 | - | - | - | - | 1 | Loss | - |
RNF6 | p.P192L | Missense | SNP | 0.551 | 2 | - | - |
RNF7 | - | - | - | - | 3 | Gain | - |
RNGTT | p.H46Y | Missense | SNP | 1.000 | 1 | Loss | - |
RNPC3 | - | - | - | - | 1 | Loss | - |
ROBO1 | - | - | - | - | 1 | Loss | - |
ROBO2 | - | - | - | - | 1 | Loss | - |
ROBO4 | p.G674E p.Q610* p.P262S | Missense Nonsense Missense | SNP SNP SNP | 0.553 0.508 0.440 | 2 | - | - |
ROPN1 | - | - | - | - | 3 | Gain | - |
ROPN1B | - | - | - | - | 3 | Gain | - |
ROR2 | - | - | - | - | 3 | Gain | - |
RORB | - | - | - | - | 3 | Gain | - |
RORC | p.R232C | Missense | SNP | 0.544 | 2 | - | - |
ROS1 | p.P495S p.L436F | Missense Missense | SNP SNP | 0.567 0.514 | 2 | - | - |
RP1 | p.G254E p.A2064T p.P1013L | Missense Missense Missense | SNP SNP SNP | 0.202 0.671 0.240 | 5 | Amp | - |
RP11-310K10.1 | p.G615R | Missense | SNP | 0.521 | ND | ND | - |
RP1L1 | p.G1010* | Nonsense | SNP | 0.672 | 2 | - | - |
RP5-1187M17.10 | p.S437L p.I403M | Missense Missense | SNP SNP | 0.273 0.116 | ND | ND | - |
RP9 | - | - | - | - | 3 | Gain | - |
RPA1 | - | - | - | - | 1 | Loss | - |
RPA2 | p.E70K | Missense | SNP | 0.194 | 2 | - | - |
RPA3 | - | - | - | - | 3 | Gain | - |
RPAIN | - | - | - | - | 1 | Loss | - |
RPGRIP1 | p.T727I | Missense | SNP | 0.625 | 2 | - | - |
RPGRIP1L | p.R251* p.M118K | Nonsense Missense | SNP SNP | 0.359 0.573 | 2 | - | - |
RPH3A | p.E148K p.G657R | Missense Missense | SNP SNP | 0.436 0.492 | 2 | - | - |
RPH3AL | - | - | - | - | 1 | Loss | - |
RPL10L | p.P47S | Missense | SNP | 0.472 | 2 | - | - |
RPL12 | - | - | - | - | 3 | Gain | - |
RPL13A | - | - | - | - | 1 | Loss | - |
RPL14 | - | - | - | - | 1 | Loss | - |
RPL15 | - | - | - | - | 1 | Loss | - |
RPL18 | - | - | - | - | 1 | Loss | - |
RPL22L1 | - | - | - | - | 3 | Gain | - |
RPL24 | - | - | - | - | 3 | Gain | - |
RPL26 | - | - | - | - | 1 | Loss | - |
RPL26L1 | - | - | - | - | 1 | Loss | - |
RPL29 | - | - | - | - | 1 | Loss | - |
RPL30 | - | - | - | - | 5 | Amp | - |
RPL32 | - | - | - | - | 1 | Loss | - |
RPL35 | - | - | - | - | 3 | Gain | - |
RPL35A | - | - | - | - | 3 | Gain | - |
RPL39L | - | - | - | - | 3 | Gain | - |
RPL7 | - | - | - | - | 5 | Amp | - |
RPL7A | - | - | - | - | 3 | Gain | - |
RPL8 | - | - | - | - | 6 | Amp | - |
RPN1 | - | - | - | - | 3 | Gain | - |
RPP14 | - | - | - | - | 1 | Loss | - |
RPP25L | - | - | - | - | 1 | Loss | - |
RPP38 | p.D238N | Missense | SNP | 0.474 | 2 | - | - |
RPRD1B | p.P103L | Missense | SNP | 0.680 | 2 | - | - |
RPS11 | - | - | - | - | 1 | Loss | - |
RPS14 | - | - | - | - | 1 | Loss | - |
RPS15 | - | - | - | - | 1 | Loss | - |
RPS20 | - | - | - | - | 5 | Amp | - |
RPS5 | - | - | - | - | 1 | Loss | - |
RPS6 | - | - | - | - | 1 | Loss | - |
RPS9 | - | - | - | - | 1 | Loss | - |
RPSA | - | - | - | - | 1 | Loss | - |
RPTN | - | - | - | - | 3 | Gain | - |
RPTOR | p.D451N | Missense | SNP | 0.223 | 2 | - | - |
RPUSD1 | p.P272L | Missense | SNP | 0.500 | 2 | - | - |
RPUSD2 | p.S239F | Missense | SNP | 0.454 | 2 | - | - |
RPUSD3 | - | - | - | - | 1 | Loss | - |
RRAGA | - | - | - | - | 1 | Loss | - |
RRAGD | - | - | - | - | 1 | Loss | - |
RRAS | - | - | - | - | 1 | Loss | - |
RREB1 | p.P1492L | Missense | SNP | 0.210 | 2 | - | - |
RRH | p.S257F | Missense | SNP | 0.691 | 2 | - | - |
RRM2B | - | - | - | - | 5 | Amp | - |
RRP1B | p.P737L | Missense | SNP | 0.482 | 2 | - | - |
RRP9 | - | - | - | - | 1 | Loss | - |
RRS1 | - | - | - | - | 5 | Amp | - |
RSBN1L | - | - | - | - | 3 | Gain | - |
RSPH10B | - | - | - | - | 3 | Gain | - |
RSPH10B2 | p.E54K | Missense | SNP | 0.325 | 3 | Gain | - |
RSPH6A | - | - | - | - | 1 | Loss | - |
RSPO2 | - | - | - | - | 5 | Amp | - |
RSRC1 | - | - | - | - | 3 | Gain | - |
RTKN | - | - | - | - | 1 | Loss | - |
RTKN2 | p.R33* | Nonsense | SNP | 0.282 | 2 | - | - |
RTN1 | p.P769S | Missense | SNP | 0.493 | 2 | - | - |
RTN2 | - | - | - | - | 1 | Loss | - |
RTN4 | p.M207F | Missense | MNP | 0.378 | 2 | - | - |
RTN4RL1 | - | - | - | - | 1 | Loss | - |
RTP1 | - | - | - | - | 3 | Gain | - |
RTP2 | - | - | - | - | 3 | Gain | - |
RTP3 | - | - | - | - | 1 | Loss | - |
RTP4 | - | - | - | - | 3 | Gain | - |
RUBCN | - | - | - | - | 3 | Gain | - |
RUFY1 | - | - | - | - | 1 | Loss | - |
RUNDC3A | p.G89E | Missense | SNP | 0.746 | 2 | - | - |
RUNDC3B | - | - | - | - | 3 | Gain | - |
RUNX1T1 | - | - | - | - | 5 | Amp | - |
RUSC2 | - | - | - | - | 1 | Loss | - |
RUVBL1 | - | - | - | - | 3 | Gain | - |
RUVBL2 | - | - | - | - | 1 | Loss | - |
RWDD4 | - | - | - | - | 1 | Loss | - |
RXRA | p.S43F | Missense | SNP | 0.318 | 3 | Gain | - |
RYBP | - | - | - | - | 1 | Loss | - |
RYK | - | - | - | - | 3 | Gain | - |
RYR1 | p.G1764V | Missense | SNP | 0.486 | 2 | - | - |
RYR2 | p.E1858K p.R3150K | Missense Missense | SNP SNP | 0.459 0.516 | 2 | - | - |
RYR3 | p.W150* | Nonsense | SNP | 0.489 | 2 | - | - |
S100A1 | p.P14L | Missense | SNP | 0.455 | 2 | - | - |
S1PR3 | - | - | - | - | 3 | Gain | - |
S1PR4 | - | - | - | - | 1 | Loss | - |
SACM1L | - | - | - | - | 1 | Loss | - |
SAE1 | - | - | - | - | 1 | Loss | - |
SAFB | - | - | - | - | 1 | Loss | - |
SAFB2 | - | - | - | - | 1 | Loss | - |
SAMD12 | - | - | - | - | 5 | Amp | - |
SAMD3 | p.E534K | Missense | SNP | 0.447 | 2 | - | - |
SAMD4B | p.S365F p.P656S | Missense Missense | SNP SNP | 0.471 0.446 | 2 | - | - |
SAMD7 | - | - | - | - | 3 | Gain | - |
SAMD9 | - | - | - | - | 3 | Gain | - |
SAMD9L | - | - | - | - | 3 | Gain | - |
SAP25 | - | - | - | - | 3 | Gain | - |
SAP30 | - | - | - | - | 1 | Loss | - |
SAP30L | - | - | - | - | 1 | Loss | - |
SAPCD2 | - | - | - | - | 3 | Gain | - |
SAR1B | - | - | - | - | 1 | Loss | - |
SARDH | p.P213F | Missense | MNP | 0.310 | 3 | Gain | - |
SAT1 | p.P72L | Missense | SNP | 0.994 | ND | ND | - |
SAT2 | - | - | - | - | 1 | Loss | - |
SATB1 | - | - | - | - | 1 | Loss | - |
SATB2 | p.Q409* | Nonsense | SNP | 0.528 | 2 | - | - |
SAXO1 | - | - | - | - | 1 | Loss | - |
SBDS | - | - | - | - | 3 | Gain | - |
SBF2 | p.D1515N | Missense | SNP | 0.600 | 2 | - | - |
SBK2 | p.G284S | Missense | SNP | 0.468 | 2 | - | - |
SBNO2 | p.L1303F | Missense | SNP | 0.583 | 1 | Loss | - |
SBSPON | - | - | - | - | 5 | Amp | - |
SCAF1 | p.E492K p.P812L p.P1087L | Missense Missense Missense | SNP SNP SNP | 0.769 0.392 0.391 | 1 | Loss | - |
SCAI | - | - | - | - | 3 | Gain | - |
SCAMP4 | - | - | - | - | 1 | Loss | - |
SCAP | - | - | - | - | 1 | Loss | - |
SCARF1 | - | - | - | - | 1 | Loss | - |
SCCPDH | p.P127S | Missense | SNP | 0.324 | 3 | Gain | - |
SCFD2 | p.L435F | Missense | SNP | 0.504 | 2 | - | - |
SCG2 | p.E333K | Missense | SNP | 0.505 | 2 | - | - |
SCGB1C2 | - | - | - | - | 1 | Loss | - |
SCGB3A1 | - | - | - | - | 1 | Loss | - |
SCGB3A2 | - | - | - | - | 1 | Loss | - |
SCGN | p.D201N | Missense | SNP | 0.567 | 2 | - | - |
SCHIP1 | - | - | - | - | 3 | Gain | - |
SCIMP | - | - | - | - | 1 | Loss | - |
SCIN | p.S180F | Missense | SNP | 0.445 | 3 | Gain | - |
SCML2 | p.G314E | Missense | SNP | 1.000 | ND | ND | - |
SCN10A | p.P1676S p.L1286F | Missense Missense | SNP SNP | 0.295 0.212 | 1 | Loss | - |
SCN11A | - | - | - | - | 1 | Loss | - |
SCN5A | - | - | - | - | 1 | Loss | - |
SCN7A | p.S1154F | Missense | SNP | 0.533 | 2 | - | - |
SCO1 | - | - | - | - | 1 | Loss | - |
SCRG1 | - | - | - | - | 1 | Loss | - |
SCRIB | p.P1043L p.A796V | Missense Missense | SNP SNP | 0.305 0.706 | 6 | Amp | - |
SCRN1 | - | - | - | - | 3 | Gain | - |
SCRT1 | - | - | - | - | 6 | Amp | - |
SCX | - | - | - | - | 3 | Gain | - |
SDC2 | - | - | - | - | 5 | Amp | - |
SDCBP | - | - | - | - | 5 | Amp | - |
SDCCAG8 | - | - | - | - | 3 | Gain | - |
SDHAF3 | - | - | - | - | 3 | Gain | - |
SDK1 | - | - | - | - | 3 | Gain | - |
SDR16C5 | - | - | - | - | 5 | Amp | - |
SEC13 | - | - | - | - | 1 | Loss | - |
SEC16A | - | - | - | - | 3 | Gain | - |
SEC22A | - | - | - | - | 3 | Gain | - |
SEC22C | - | - | - | - | 1 | Loss | - |
SEC23A | p.Q655* | Nonsense | SNP | 0.323 | 2 | - | - |
SEC24A | p.P213Lfs*9 | Frame_Shift_Del | DEL | 0.609 | 1 | Loss | - |
SEC24C | p.E343K | Missense | SNP | 0.533 | 2 | - | - |
SEC61A1 | - | - | - | - | 3 | Gain | - |
SEC61B | - | - | - | - | 3 | Gain | - |
SEC61G | - | - | - | - | 3 | Gain | - |
SEC62 | - | - | - | - | 3 | Gain | - |
SECISBP2 | - | - | - | - | 3 | Gain | - |
SELENOK | - | - | - | - | 1 | Loss | - |
SELENOT | - | - | - | - | 3 | Gain | - |
SELENOW | - | - | - | - | 1 | Loss | - |
SELP | p.E302K | Missense | SNP | 0.571 | 2 | - | - |
SEM1 | - | - | - | - | 3 | Gain | - |
SEMA3A | - | - | - | - | 3 | Gain | - |
SEMA3B | - | - | - | - | 1 | Loss | - |
SEMA3C | - | - | - | - | 3 | Gain | - |
SEMA3D | - | - | - | - | 3 | Gain | - |
SEMA3E | - | - | - | - | 3 | Gain | - |
SEMA3F | - | - | - | - | 1 | Loss | - |
SEMA3G | - | - | - | - | 1 | Loss | - |
SEMA4D | p.S9F | Missense | SNP | 0.159 | 3 | Gain | - |
SEMA4G | p.L646S | Missense | SNP | 0.465 | 2 | - | - |
SEMA5B | - | - | - | - | 3 | Gain | - |
SEMA6A | - | - | - | - | 1 | Loss | - |
SEMA6B | - | - | - | - | 1 | Loss | - |
SENP2 | - | - | - | - | 3 | Gain | - |
SENP3 | - | - | - | - | 1 | Loss | - |
SENP3-EIF4A1 | - | - | - | - | 1 | Loss | - |
SENP5 | - | - | - | - | 3 | Gain | - |
SENP7 | - | - | - | - | 3 | Gain | - |
SEPP1 | p.S342F | Missense | SNP | 0.457 | ND | ND | - |
SEPT14 | - | - | - | - | 3 | Gain | - |
SEPT5 | p.S4F | Missense | SNP | 0.512 | 2 | - | - |
SEPT7 | - | - | - | - | 3 | Gain | - |
SEPT8 | - | - | - | - | 1 | Loss | - |
SERINC5 | p.P455L | Missense | SNP | 0.500 | 2 | - | - |
SERP1 | - | - | - | - | 3 | Gain | - |
SERPINA1 | p.E229K | Missense | SNP | 0.629 | 2 | - | - |
SERPINA10 | p.G147E | Missense | SNP | 0.518 | 2 | - | - |
SERPINA6 | p.E154K | Missense | SNP | 0.503 | 2 | - | - |
SERPINE1 | - | - | - | - | 3 | Gain | - |
SERPINF1 | - | - | - | - | 1 | Loss | - |
SERPINF2 | - | - | - | - | 1 | Loss | - |
SERPINI1 | - | - | - | - | 3 | Gain | - |
SERPINI2 | - | - | - | - | 3 | Gain | - |
SESN2 | p.G21S | Missense | SNP | 0.563 | 2 | - | - |
SET | - | - | - | - | 3 | Gain | - |
SETD2 | - | - | - | - | 1 | Loss | - |
SETD5 | - | - | - | - | 1 | Loss | - |
SETMAR | - | - | - | - | 1 | Loss | - |
SETX | - | - | - | - | 3 | Gain | - |
SF3A2 | - | - | - | - | 1 | Loss | - |
SF3B2 | p.D715N | Missense | SNP | 0.502 | 2 | - | - |
SFMBT1 | - | - | - | - | 1 | Loss | - |
SFN | p.E75K | Missense | SNP | 0.612 | 2 | - | - |
SFRP4 | - | - | - | - | 3 | Gain | - |
SFXN1 | - | - | - | - | 1 | Loss | - |
SGCD | - | - | - | - | 1 | Loss | - |
SGCE | - | - | - | - | 3 | Gain | - |
SGK3 | - | - | - | - | 5 | Amp | - |
SGO1 | - | - | - | - | 1 | Loss | - |
SGSM2 | - | - | - | - | 1 | Loss | - |
SGTA | - | - | - | - | 1 | Loss | - |
SH2B2 | - | - | - | - | 3 | Gain | - |
SH2D3A | p.P47L | Missense | SNP | 0.565 | 1 | Loss | - |
SH2D3C | - | - | - | - | 3 | Gain | - |
SH3BP1 | p.S544F | Missense | SNP | 0.427 | 2 | - | - |
SH3BP5 | - | - | - | - | 1 | Loss | - |
SH3BP5L | - | - | - | - | 3 | Gain | - |
SH3D19 | p.G286E | Missense | SNP | 0.691 | 2 | - | - |
SH3GL1 | - | - | - | - | 1 | Loss | - |
SH3GL2 | - | - | - | - | 1 | Loss | - |
SH3GLB2 | - | - | - | - | 3 | Gain | - |
SH3PXD2B | - | - | - | - | 1 | Loss | - |
SH3RF2 | - | - | - | - | 1 | Loss | - |
SH3RF3 | p.X525_splice | Splice_Site | SNP | 0.532 | 2 | - | - |
SH3TC2 | - | - | - | - | 1 | Loss | - |
SH3YL1 | p.R71S | Missense | SNP | 0.500 | 2 | - | - |
SHANK1 | - | - | - | - | 1 | Loss | - |
SHANK2 | p.P960S p.L494F | Missense Missense | SNP SNP | 0.422 0.489 | 2 | - | - |
SHARPIN | - | - | - | - | 6 | Amp | - |
SHB | - | - | - | - | 1 | Loss | - |
SHBG | - | - | - | - | 1 | Loss | - |
SHC2 | p.P460S | Missense | SNP | 0.336 | 1 | Loss | - |
SHC3 | - | - | - | - | 3 | Gain | - |
SHD | - | - | - | - | 1 | Loss | - |
SHH | - | - | - | - | 3 | Gain | - |
SHISA5 | - | - | - | - | 1 | Loss | - |
SHISA6 | p.G390D | Missense | SNP | 0.730 | 1 | Loss | - |
SHKBP1 | p.P685S | Missense | SNP | 0.494 | 2 | - | - |
SHMT1 | - | - | - | - | 1 | Loss | - |
SHOX2 | - | - | - | - | 3 | Gain | - |
SHPK | - | - | - | - | 1 | Loss | - |
SHQ1 | - | - | - | - | 1 | Loss | - |
SHROOM1 | - | - | - | - | 1 | Loss | - |
SHROOM3 | p.P273L | Missense | SNP | 0.258 | 2 | - | - |
SI | p.C1410S | Missense | SNP | 0.287 | 3 | Gain | - |
SIAH2 | - | - | - | - | 3 | Gain | - |
SIDT1 | p.Q218R | Missense | SNP | 0.702 | 3 | Gain | - |
SIDT2 | p.Q577* | Nonsense | SNP | 0.438 | 2 | - | - |
SIGLEC1 | p.N99S | Missense | SNP | 0.548 | 2 | - | - |
SIGLEC10 | p.G259R | Missense | SNP | 0.500 | 1 | Loss | - |
SIGLEC11 | - | - | - | - | 1 | Loss | - |
SIGLEC12 | - | - | - | - | 1 | Loss | - |
SIGLEC14 | p.G310E | Missense | SNP | 0.310 | 1 | Loss | - |
SIGLEC5 | - | - | - | - | 1 | Loss | - |
SIGLEC6 | - | - | - | - | 1 | Loss | - |
SIGLEC7 | - | - | - | - | 1 | Loss | - |
SIGLEC8 | - | - | - | - | 1 | Loss | - |
SIGLEC9 | - | - | - | - | 1 | Loss | - |
SIGLECL1 | - | - | - | - | 1 | Loss | - |
SIGMAR1 | - | - | - | - | 1 | Loss | - |
SIK3 | p.P43S | Missense | SNP | 0.489 | 2 | - | - |
SIL1 | - | - | - | - | 1 | Loss | - |
SIM1 | p.K708E | Missense | SNP | 0.376 | 2 | - | - |
SIMC1 | - | - | - | - | 1 | Loss | - |
SIN3A | p.P589S | Missense | SNP | 0.503 | 2 | - | - |
SIPA1 | p.E199K | Missense | SNP | 0.525 | 2 | - | - |
SIRT6 | - | - | - | - | 1 | Loss | - |
SIT1 | - | - | - | - | 1 | Loss | - |
SIX5 | - | - | - | - | 1 | Loss | - |
SKA3 | p.P284L | Missense | SNP | 0.412 | 2 | - | - |
SKAP2 | - | - | - | - | 3 | Gain | - |
SKIL | - | - | - | - | 3 | Gain | - |
SKP1 | - | - | - | - | 1 | Loss | - |
SLA | - | - | - | - | 5 | Amp | - |
SLAIN1 | p.G583E | Missense | SNP | 0.534 | 2 | - | - |
SLAMF6 | p.E36K | Missense | SNP | 0.480 | 2 | - | - |
SLC10A5 | - | - | - | - | 5 | Amp | - |
SLC12A2 | p.L322I | Missense | SNP | 0.400 | 1 | Loss | - |
SLC12A3 | p.G316D | Missense | SNP | 0.607 | 2 | - | - |
SLC12A6 | p.F899L p.S840F | Missense Missense | SNP SNP | 0.473 0.478 | 2 | - | - |
SLC12A8 | - | - | - | - | 3 | Gain | - |
SLC12A9 | - | - | - | - | 3 | Gain | - |
SLC13A1 | p.V9I | Missense | SNP | 0.458 | 3 | Gain | - |
SLC13A4 | - | - | - | - | 3 | Gain | - |
SLC13A5 | - | - | - | - | 1 | Loss | - |
SLC15A2 | - | - | - | - | 3 | Gain | - |
SLC15A5 | p.C253* | Nonsense | SNP | 0.479 | 2 | - | - |
SLC16A11 | - | - | - | - | 1 | Loss | - |
SLC16A13 | - | - | - | - | 1 | Loss | - |
SLC16A14 | p.R69Pfs*25 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
SLC17A7 | - | - | - | - | 1 | Loss | - |
SLC1A1 | - | - | - | - | 1 | Loss | - |
SLC1A5 | - | - | - | - | 1 | Loss | - |
SLC22A13 | - | - | - | - | 1 | Loss | - |
SLC22A14 | - | - | - | - | 1 | Loss | - |
SLC22A15 | p.L240F | Missense | SNP | 0.444 | 2 | - | - |
SLC22A4 | - | - | - | - | 1 | Loss | - |
SLC22A5 | - | - | - | - | 1 | Loss | - |
SLC22A8 | p.E505K | Missense | SNP | 0.504 | 2 | - | - |
SLC23A1 | - | - | - | - | 1 | Loss | - |
SLC24A2 | - | - | - | - | 1 | Loss | - |
SLC25A11 | - | - | - | - | 1 | Loss | - |
SLC25A13 | - | - | - | - | 3 | Gain | - |
SLC25A20 | - | - | - | - | 1 | Loss | - |
SLC25A23 | - | - | - | - | 1 | Loss | - |
SLC25A25 | - | - | - | - | 3 | Gain | - |
SLC25A26 | - | - | - | - | 1 | Loss | - |
SLC25A32 | - | - | - | - | 5 | Amp | - |
SLC25A35 | - | - | - | - | 1 | Loss | - |
SLC25A36 | - | - | - | - | 3 | Gain | - |
SLC25A38 | - | - | - | - | 1 | Loss | - |
SLC25A4 | - | - | - | - | 1 | Loss | - |
SLC25A40 | - | - | - | - | 3 | Gain | - |
SLC25A41 | - | - | - | - | 1 | Loss | - |
SLC25A42 | - | - | - | - | 1 | Loss | - |
SLC25A47 | p.E156K | Missense | SNP | 0.555 | 2 | - | - |
SLC25A48 | - | - | - | - | 1 | Loss | - |
SLC25A51 | - | - | - | - | 1 | Loss | - |
SLC26A2 | - | - | - | - | 1 | Loss | - |
SLC26A3 | - | - | - | - | 3 | Gain | - |
SLC26A4 | - | - | - | - | 3 | Gain | - |
SLC26A5 | - | - | - | - | 3 | Gain | - |
SLC26A6 | - | - | - | - | 1 | Loss | - |
SLC26A7 | p.A67T | Missense | SNP | 0.230 | 5 | Amp | - |
SLC27A4 | p.P456L | Missense | SNP | 0.262 | 3 | Gain | - |
SLC27A5 | - | - | - | - | 1 | Loss | - |
SLC27A6 | - | - | - | - | 1 | Loss | - |
SLC28A3 | - | - | - | - | 3 | Gain | - |
SLC29A1 | p.P66S | Missense | SNP | 0.623 | 2 | - | - |
SLC29A4 | - | - | - | - | 3 | Gain | - |
SLC2A11 | p.P466L | Missense | MNP | 0.470 | 2 | - | - |
SLC2A2 | p.G186E | Missense | SNP | 0.752 | 3 | Gain | - |
SLC2A3 | p.P385S | Missense | SNP | 0.467 | 2 | - | - |
SLC2A4 | - | - | - | - | 1 | Loss | - |
SLC2A6 | - | - | - | - | 3 | Gain | - |
SLC2A8 | - | - | - | - | 3 | Gain | - |
SLC30A8 | - | - | - | - | 5 | Amp | - |
SLC31A1 | - | - | - | - | 3 | Gain | - |
SLC31A2 | - | - | - | - | 3 | Gain | - |
SLC33A1 | p.E283K | Missense | SNP | 0.329 | 3 | Gain | - |
SLC34A1 | - | - | - | - | 1 | Loss | - |
SLC34A3 | - | - | - | - | 3 | Gain | - |
SLC35A4 | - | - | - | - | 1 | Loss | - |
SLC35A5 | - | - | - | - | 3 | Gain | - |
SLC35B4 | - | - | - | - | 3 | Gain | - |
SLC35D2 | - | - | - | - | 3 | Gain | - |
SLC35E2 | p.I118N | Missense | SNP | 0.286 | ND | ND | - |
SLC35F4 | p.G267R | Missense | SNP | 0.530 | 2 | - | - |
SLC35G2 | - | - | - | - | 3 | Gain | - |
SLC35G6 | - | - | - | - | 1 | Loss | - |
SLC36A1 | - | - | - | - | 1 | Loss | - |
SLC36A2 | - | - | - | - | 1 | Loss | - |
SLC36A3 | p.P390L | Missense | MNP | 0.343 | 1 | Loss | - |
SLC37A3 | - | - | - | - | 3 | Gain | - |
SLC38A3 | - | - | - | - | 1 | Loss | - |
SLC39A3 | - | - | - | - | 1 | Loss | - |
SLC39A4 | - | - | - | - | 6 | Amp | - |
SLC3A2 | p.A547V | Missense | SNP | 0.505 | 2 | - | - |
SLC41A3 | - | - | - | - | 3 | Gain | - |
SLC43A2 | - | - | - | - | 1 | Loss | - |
SLC44A1 | - | - | - | - | 3 | Gain | - |
SLC45A1 | p.D465N | Missense | SNP | 0.440 | 2 | - | - |
SLC45A4 | - | - | - | - | 6 | Amp | - |
SLC46A2 | - | - | - | - | 3 | Gain | - |
SLC47A1 | - | - | - | - | 1 | Loss | - |
SLC47A2 | - | - | - | - | 1 | Loss | - |
SLC4A2 | - | - | - | - | 3 | Gain | - |
SLC4A4 | p.P772L | Missense | SNP | 0.314 | 2 | - | - |
SLC4A5 | - | - | - | - | 1 | Loss | - |
SLC4A7 | - | - | - | - | 1 | Loss | - |
SLC4A9 | - | - | - | - | 1 | Loss | - |
SLC51A | - | - | - | - | 3 | Gain | - |
SLC52A1 | - | - | - | - | 1 | Loss | - |
SLC52A2 | - | - | - | - | 6 | Amp | - |
SLC5A10 | - | - | - | - | 1 | Loss | - |
SLC5A4 | p.E618K | Missense | SNP | 0.607 | 2 | - | - |
SLC6A1 | - | - | - | - | 1 | Loss | - |
SLC6A11 | - | - | - | - | 1 | Loss | - |
SLC6A16 | - | - | - | - | 1 | Loss | - |
SLC6A20 | - | - | - | - | 1 | Loss | - |
SLC6A6 | - | - | - | - | 1 | Loss | - |
SLC6A7 | - | - | - | - | 1 | Loss | - |
SLC7A13 | - | - | - | - | 5 | Amp | - |
SLC7A14 | p.S90F | Missense | SNP | 0.247 | 3 | Gain | - |
SLC7A6 | p.G461E | Missense | SNP | 0.602 | 2 | - | - |
SLC7A9 | p.P414H | Missense | SNP | 0.528 | 2 | - | - |
SLC8A1 | p.R267Q | Missense | SNP | 0.464 | 2 | - | - |
SLC8A2 | p.G8R | Missense | SNP | 0.500 | 1 | Loss | - |
SLC8A3 | p.F464L p.L89F | Missense Missense | SNP SNP | 0.547 0.500 | 2 | - | - |
SLC9A1 | p.V22M | Missense | SNP | 0.565 | 2 | - | - |
SLC9A9 | - | - | - | - | 3 | Gain | - |
SLC9C1 | - | - | - | - | 3 | Gain | - |
SLCO1B1 | p.G159E | Missense | SNP | 0.468 | 2 | - | - |
SLCO2A1 | - | - | - | - | 3 | Gain | - |
SLCO4A1 | p.W311*;p.V312I | Nonsense | MNP | 0.588 | 2 | - | - |
SLCO5A1 | p.R191Q | Missense | SNP | 0.293 | 5 | Amp | - |
SLF2 | p.G922D | Missense | SNP | 0.386 | 2 | - | - |
SLIT2 | p.K1425M | Missense | SNP | 0.655 | 2 | - | - |
SLIT3 | - | - | - | - | 1 | Loss | - |
SLITRK3 | - | - | - | - | 3 | Gain | - |
SLMAP | - | - | - | - | 1 | Loss | - |
SLURP1 | - | - | - | - | 6 | Amp | - |
SLURP2 | - | - | - | - | 6 | Amp | - |
SMAD3 | p.Q354H | Missense | SNP | 0.447 | 2 | - | - |
SMAD5 | - | - | - | - | 1 | Loss | - |
SMARCA2 | - | - | - | - | 1 | Loss | - |
SMARCA4 | p.P265L | Missense | SNP | 0.578 | 2 | - | - |
SMARCC1 | - | - | - | - | 1 | Loss | - |
SMARCD3 | - | - | - | - | 3 | Gain | - |
SMC1B | p.E787* | Nonsense | SNP | 0.435 | 2 | - | - |
SMC2 | - | - | - | - | 3 | Gain | - |
SMC4 | - | - | - | - | 3 | Gain | - |
SMC5 | - | - | - | - | 3 | Gain | - |
SMC6 | p.P517S | Missense | SNP | 0.456 | 2 | - | - |
SMCO1 | - | - | - | - | 3 | Gain | - |
SMCR8 | - | - | - | - | 1 | Loss | - |
SMG6 | - | - | - | - | 1 | Loss | - |
SMG8 | p.P662S | Missense | SNP | 0.812 | 2 | - | - |
SMIM17 | p.E79K | Missense | SNP | 0.312 | 2 | - | - |
SMIM23 | - | - | - | - | 1 | Loss | - |
SMIM24 | - | - | - | - | 1 | Loss | - |
SMIM27 | - | - | - | - | 1 | Loss | - |
SMIM3 | - | - | - | - | 1 | Loss | - |
SMIM30 | - | - | - | - | 3 | Gain | - |
SMIM32 | - | - | - | - | 1 | Loss | - |
SMIM33 | - | - | - | - | 1 | Loss | - |
SMIM4 | - | - | - | - | 1 | Loss | - |
SMKR1 | - | - | - | - | 3 | Gain | - |
SMO | - | - | - | - | 3 | Gain | - |
SMTNL2 | - | - | - | - | 1 | Loss | - |
SMU1 | - | - | - | - | 1 | Loss | - |
SMURF1 | - | - | - | - | 3 | Gain | - |
SMYD3 | - | - | - | - | 3 | Gain | - |
SMYD4 | - | - | - | - | 1 | Loss | - |
SNAI2 | - | - | - | - | 5 | Amp | - |
SNAP91 | p.P893S | Missense | SNP | 0.355 | 2 | - | - |
SNAPC2 | - | - | - | - | 1 | Loss | - |
SNAPC3 | - | - | - | - | 1 | Loss | - |
SNAPC4 | - | - | - | - | 3 | Gain | - |
SNCAIP | - | - | - | - | 1 | Loss | - |
SNCB | - | - | - | - | 1 | Loss | - |
SND1 | - | - | - | - | 3 | Gain | - |
SNRK | - | - | - | - | 1 | Loss | - |
SNRNP200 | p.P1047S | Missense | SNP | 0.208 | 2 | - | - |
SNRNP27 | p.G146R | Missense | SNP | 0.185 | 2 | - | - |
SNRNP70 | - | - | - | - | 1 | Loss | - |
SNRPD2 | - | - | - | - | 1 | Loss | - |
SNTB1 | - | - | - | - | 5 | Amp | - |
SNTG1 | - | - | - | - | 5 | Amp | - |
SNTN | - | - | - | - | 1 | Loss | - |
SNX10 | - | - | - | - | 3 | Gain | - |
SNX13 | - | - | - | - | 3 | Gain | - |
SNX16 | - | - | - | - | 5 | Amp | - |
SNX2 | - | - | - | - | 1 | Loss | - |
SNX24 | - | - | - | - | 1 | Loss | - |
SNX25 | - | - | - | - | 1 | Loss | - |
SNX30 | - | - | - | - | 3 | Gain | - |
SNX31 | - | - | - | - | 5 | Amp | - |
SNX4 | - | - | - | - | 3 | Gain | - |
SNX8 | - | - | - | - | 3 | Gain | - |
SOHLH1 | - | - | - | - | 3 | Gain | - |
SORBS2 | p.L391F | Missense | SNP | 0.362 | 1 | Loss | - |
SOSTDC1 | - | - | - | - | 3 | Gain | - |
SOWAHA | - | - | - | - | 1 | Loss | - |
SOX1 | p.P116S | Missense | SNP | 0.517 | 2 | - | - |
SOX10 | p.E18K | Missense | SNP | 0.532 | 2 | - | - |
SOX11 | p.E9A p.E103D | Missense Missense | SNP SNP | 0.600 0.495 | 2 | - | - |
SOX14 | - | - | - | - | 3 | Gain | - |
SOX15 | p.P45L | Missense | SNP | 0.241 | 1 | Loss | - |
SOX17 | - | - | - | - | 5 | Amp | - |
SOX2 | - | - | - | - | 3 | Gain | - |
SOX3 | p.G233D | Missense | SNP | 1.000 | ND | ND | - |
SOX30 | - | - | - | - | 1 | Loss | - |
SOX9 | p.R394Q | Missense | SNP | 0.254 | 2 | - | - |
SP140 | p.P60S | Missense | SNP | 0.527 | 2 | - | - |
SP4 | - | - | - | - | 3 | Gain | - |
SP7 | p.P207L | Missense | SNP | 0.542 | 2 | - | - |
SP8 | - | - | - | - | 3 | Gain | - |
SPAAR | - | - | - | - | 1 | Loss | - |
SPACA4 | - | - | - | - | 1 | Loss | - |
SPACA6 | - | - | - | - | 1 | Loss | - |
SPACA9 | - | - | - | - | 3 | Gain | - |
SPAG1 | - | - | - | - | 5 | Amp | - |
SPAG11B | p.E123K | Missense | SNP | 0.200 | 2 | - | - |
SPAG16 | p.T411S | Missense | SNP | 0.446 | 2 | - | - |
SPAG7 | - | - | - | - | 1 | Loss | - |
SPAG8 | - | - | - | - | 1 | Loss | - |
SPAG9 | p.G270S | Missense | SNP | 0.382 | 2 | - | - |
SPAM1 | - | - | - | - | 3 | Gain | - |
SPARC | - | - | - | - | 1 | Loss | - |
SPATA12 | - | - | - | - | 1 | Loss | - |
SPATA13 | p.S113F | Missense | SNP | 0.508 | 2 | - | - |
SPATA16 | - | - | - | - | 3 | Gain | - |
SPATA2 | p.R465C | Missense | SNP | 0.344 | 2 | - | - |
SPATA20 | p.P96S | Missense | SNP | 0.753 | 2 | - | - |
SPATA22 | - | - | - | - | 1 | Loss | - |
SPATA24 | - | - | - | - | 1 | Loss | - |
SPATA31A1 | - | - | - | - | 1 | Loss | - |
SPATA31A3 | - | - | - | - | 3 | Gain | - |
SPATA31A5 | - | - | - | - | 1 | Loss | - |
SPATA31A7 | - | - | - | - | 1 | Loss | - |
SPATA31D1 | p.S273L | Missense | SNP | 0.583 | 3 | Gain | - |
SPATA31D3 | - | - | - | - | 3 | Gain | - |
SPATA31D4 | - | - | - | - | 3 | Gain | - |
SPATA31E1 | - | - | - | - | 3 | Gain | - |
SPATA4 | - | - | - | - | 1 | Loss | - |
SPATA48 | - | - | - | - | 3 | Gain | - |
SPATA6 | p.S230P | Missense | SNP | 0.515 | 2 | - | - |
SPATA6L | - | - | - | - | 1 | Loss | - |
SPATC1 | - | - | - | - | 6 | Amp | - |
SPCS1 | - | - | - | - | 1 | Loss | - |
SPCS3 | - | - | - | - | 1 | Loss | - |
SPDEF | p.G266D | Missense | SNP | 1.000 | 2 | - | - |
SPDL1 | - | - | - | - | 1 | Loss | - |
SPDYE1 | - | - | - | - | 3 | Gain | - |
SPDYE3 | - | - | - | - | 3 | Gain | - |
SPDYE4 | p.P213S | Missense | SNP | 0.355 | 1 | Loss | - |
SPDYE6 | - | - | - | - | 3 | Gain | - |
SPECC1 | - | - | - | - | 1 | Loss | - |
SPEG | p.S313F | Missense | SNP | 0.385 | 2 | - | - |
SPEM1 | - | - | - | - | 1 | Loss | - |
SPEM2 | - | - | - | - | 1 | Loss | - |
SPEN | p.A983T p.P2940S | Missense Missense | SNP SNP | 0.519 0.517 | 2 | - | - |
SPG7 | p.S257F | Missense | SNP | 0.373 | 2 | - | - |
SPHK2 | - | - | - | - | 1 | Loss | - |
SPIB | - | - | - | - | 1 | Loss | - |
SPICE1 | - | - | - | - | 3 | Gain | - |
SPIDR | - | - | - | - | 5 | Amp | - |
SPIN1 | - | - | - | - | 3 | Gain | - |
SPINK1 | - | - | - | - | 1 | Loss | - |
SPINK13 | - | - | - | - | 1 | Loss | - |
SPINK14 | - | - | - | - | 1 | Loss | - |
SPINK4 | - | - | - | - | 1 | Loss | - |
SPINK5 | - | - | - | - | 1 | Loss | - |
SPINK6 | - | - | - | - | 1 | Loss | - |
SPINK7 | - | - | - | - | 1 | Loss | - |
SPINK8 | - | - | - | - | 1 | Loss | - |
SPINK9 | - | - | - | - | 1 | Loss | - |
SPIRE1 | p.R751K | Missense | SNP | 0.553 | 2 | - | - |
SPN | p.P204S | Missense | SNP | 0.361 | 2 | - | - |
SPNS2 | - | - | - | - | 1 | Loss | - |
SPNS3 | - | - | - | - | 1 | Loss | - |
SPOCK1 | - | - | - | - | 1 | Loss | - |
SPON1 | p.D475Pfs*2 p.W231* | Frame_Shift_Del Nonsense | DEL SNP | 0.358 0.548 | 2 | - | - |
SPOUT1 | - | - | - | - | 3 | Gain | - |
SPPL2B | p.P82S p.P126S | Missense Missense | SNP SNP | 0.621 0.308 | 1 | Loss | - |
SPR | p.E2K | Missense | SNP | 0.500 | 2 | - | - |
SPRY4 | - | - | - | - | 1 | Loss | - |
SPSB1 | p.Q82* p.S176F | Nonsense Missense | SNP SNP | 0.538 0.398 | 2 | - | - |
SPSB4 | - | - | - | - | 3 | Gain | - |
SPTA1 | p.P1254S p.E671K | Missense Missense | SNP SNP | 0.392 0.473 | 2 | - | - |
SPTAN1 | - | - | - | - | 3 | Gain | - |
SPTB | p.S662F | Missense | SNP | 0.440 | 2 | - | - |
SPTBN1 | p.E741K | Missense | SNP | 0.485 | 2 | - | - |
SPTBN2 | p.E1957K p.A1617V | Missense Missense | SNP SNP | 0.486 0.455 | 2 | - | - |
SPTLC1 | - | - | - | - | 3 | Gain | - |
SPTSSB | - | - | - | - | 3 | Gain | - |
SQLE | - | - | - | - | 5 | Amp | - |
SQSTM1 | - | - | - | - | 1 | Loss | - |
SRA1 | - | - | - | - | 1 | Loss | - |
SREBF1 | - | - | - | - | 1 | Loss | - |
SRFBP1 | - | - | - | - | 1 | Loss | - |
SRGAP1 | p.E72K | Missense | SNP | 0.508 | 2 | - | - |
SRGAP3 | - | - | - | - | 1 | Loss | - |
SRI | - | - | - | - | 3 | Gain | - |
SRPK1 | p.R18Q | Missense | SNP | 0.192 | 2 | - | - |
SRPK2 | - | - | - | - | 3 | Gain | - |
SRPRB | - | - | - | - | 3 | Gain | - |
SRR | - | - | - | - | 1 | Loss | - |
SRRM2 | p.R2742W | Missense | SNP | 0.209 | 2 | - | - |
SRRM3 | - | - | - | - | 3 | Gain | - |
SRRT | - | - | - | - | 3 | Gain | - |
SRSF12 | - | - | - | - | 1 | Loss | - |
SS18L2 | - | - | - | - | 1 | Loss | - |
SSBP1 | - | - | - | - | 3 | Gain | - |
SSBP4 | - | - | - | - | 1 | Loss | - |
SSC4D | - | - | - | - | 3 | Gain | - |
SSC5D | p.N779S | Missense | SNP | 0.487 | 2 | - | - |
SSMEM1 | - | - | - | - | 3 | Gain | - |
SSNA1 | - | - | - | - | 3 | Gain | - |
SSPO | p.P2053S | Missense | SNP | 0.510 | 3 | Gain | - |
SSR3 | - | - | - | - | 3 | Gain | - |
SST | - | - | - | - | 3 | Gain | - |
SSU72P8 | - | - | - | - | 3 | Gain | - |
SSUH2 | - | - | - | - | 1 | Loss | - |
ST18 | p.D449N p.E232K | Missense Missense | SNP SNP | 0.158 0.260 | 5 | Amp | - |
ST3GAL1 | - | - | - | - | 5 | Amp | - |
ST3GAL6 | - | - | - | - | 3 | Gain | - |
ST6GAL1 | - | - | - | - | 3 | Gain | - |
ST6GALNAC1 | p.N84T | Missense | SNP | 0.227 | 2 | - | - |
ST6GALNAC4 | - | - | - | - | 3 | Gain | - |
ST6GALNAC6 | - | - | - | - | 3 | Gain | - |
ST7 | - | - | - | - | 3 | Gain | - |
ST7L | p.R57K | Missense | SNP | 0.559 | 2 | - | - |
STAB1 | - | - | - | - | 1 | Loss | - |
STAC | - | - | - | - | 1 | Loss | - |
STAG1 | - | - | - | - | 3 | Gain | - |
STAG3 | - | - | - | - | 3 | Gain | - |
STAMBP | - | - | - | - | 1 | Loss | - |
STAP2 | - | - | - | - | 1 | Loss | - |
STARD3NL | - | - | - | - | 3 | Gain | - |
STAT5A | p.P725H | Missense | SNP | 0.387 | 2 | - | - |
STAU2 | - | - | - | - | 5 | Amp | - |
STC2 | - | - | - | - | 1 | Loss | - |
STEAP1 | - | - | - | - | 3 | Gain | - |
STEAP1B | - | - | - | - | 3 | Gain | - |
STEAP2 | - | - | - | - | 3 | Gain | - |
STEAP4 | - | - | - | - | 3 | Gain | - |
STIMATE | - | - | - | - | 1 | Loss | - |
STK10 | - | - | - | - | 1 | Loss | - |
STK11 | - | - | - | - | 1 | Loss | - |
STK17A | - | - | - | - | 3 | Gain | - |
STK3 | - | - | - | - | 5 | Amp | - |
STK31 | - | - | - | - | 3 | Gain | - |
STK32A | - | - | - | - | 1 | Loss | - |
STKLD1 | - | - | - | - | 3 | Gain | - |
STMN2 | - | - | - | - | 5 | Amp | - |
STMN3 | p.P61S | Missense | SNP | 0.563 | 2 | - | - |
STMP1 | - | - | - | - | 3 | Gain | - |
STOM | p.D89H | Missense | SNP | 0.188 | 3 | Gain | - |
STOML2 | - | - | - | - | 1 | Loss | - |
STON1-GTF2A1L | p.R1041W | Missense | SNP | 0.460 | 2 | - | - |
STOX2 | p.E309K p.E439* p.D623N p.E649K p.E696D | Missense Nonsense Missense Missense Missense | SNP SNP SNP SNP SNP | 0.233 0.275 0.309 0.247 0.317 | 1 | Loss | - |
STPG3 | - | - | - | - | 3 | Gain | - |
STRA8 | - | - | - | - | 3 | Gain | - |
STRBP | - | - | - | - | 3 | Gain | - |
STRC | p.G135E | Missense | SNP | 0.309 | 2 | - | - |
STRIP2 | - | - | - | - | 3 | Gain | - |
STRN4 | - | - | - | - | 1 | Loss | - |
STT3B | - | - | - | - | 1 | Loss | - |
STX11 | p.P284L | Missense | SNP | 0.454 | 2 | - | - |
STX17 | - | - | - | - | 3 | Gain | - |
STX19 | - | - | - | - | 3 | Gain | - |
STX1A | - | - | - | - | 3 | Gain | - |
STX4 | p.P48S | Missense | SNP | 0.590 | 2 | - | - |
STX8 | - | - | - | - | 1 | Loss | - |
STXBP1 | - | - | - | - | 3 | Gain | - |
STXBP2 | p.Q103* | Nonsense | SNP | 0.655 | 1 | Loss | - |
STXBP5L | - | - | - | - | 3 | Gain | - |
STYXL1 | - | - | - | - | 3 | Gain | - |
SUCLG2 | - | - | - | - | 1 | Loss | - |
SUCNR1 | - | - | - | - | 3 | Gain | - |
SUGCT | - | - | - | - | 3 | Gain | - |
SUGP1 | p.A285V | Missense | SNP | 0.205 | 1 | Loss | - |
SUGP2 | - | - | - | - | 1 | Loss | - |
SULF1 | - | - | - | - | 5 | Amp | - |
SULT1C3 | p.D204N | Missense | SNP | 0.417 | 2 | - | - |
SULT2A1 | - | - | - | - | 1 | Loss | - |
SULT2B1 | - | - | - | - | 1 | Loss | - |
SULT4A1 | p.P105L | Missense | SNP | 0.515 | 2 | - | - |
SULT6B1 | p.E53K | Missense | SNP | 0.671 | 2 | - | - |
SUMF1 | - | - | - | - | 1 | Loss | - |
SUMF2 | - | - | - | - | 3 | Gain | - |
SUN1 | - | - | - | - | 3 | Gain | - |
SUN3 | - | - | - | - | 3 | Gain | - |
SURF1 | - | - | - | - | 3 | Gain | - |
SURF2 | - | - | - | - | 3 | Gain | - |
SURF4 | - | - | - | - | 3 | Gain | - |
SURF6 | - | - | - | - | 3 | Gain | - |
SUSD1 | - | - | - | - | 3 | Gain | - |
SUSD3 | - | - | - | - | 3 | Gain | - |
SUSD5 | - | - | - | - | 1 | Loss | - |
SUZ12 | p.P326L | Missense | MNP | 0.676 | 2 | - | - |
SVEP1 | p.P2946S | Missense | SNP | 0.368 | 3 | Gain | - |
SVIL | p.R689Q | Missense | SNP | 0.446 | 2 | - | - |
SVOPL | - | - | - | - | 3 | Gain | - |
SWI5 | - | - | - | - | 3 | Gain | - |
SYBU | p.S653L | Missense | SNP | 0.248 | 5 | Amp | - |
SYK | - | - | - | - | 3 | Gain | - |
SYMPK | p.S870F | Missense | SNP | 0.637 | 1 | Loss | - |
SYN2 | - | - | - | - | 1 | Loss | - |
SYNGR4 | - | - | - | - | 1 | Loss | - |
SYNJ2 | p.W800* | Nonsense | SNP | 0.441 | 2 | - | - |
SYNPO | - | - | - | - | 1 | Loss | - |
SYNPR | - | - | - | - | 1 | Loss | - |
SYPL1 | - | - | - | - | 3 | Gain | - |
SYT1 | p.P55L | Missense | SNP | 0.525 | 2 | - | - |
SYT2 | p.X307_splice | Splice_Site | SNP | 0.356 | 2 | - | - |
SYT3 | - | - | - | - | 1 | Loss | - |
SYT7 | p.S411F | Missense | SNP | 0.452 | 2 | - | - |
SYTL2 | p.S934F | Missense | SNP | 0.433 | 2 | - | - |
TAAR6 | p.S205F | Missense | SNP | 0.335 | 2 | - | - |
TAC1 | - | - | - | - | 3 | Gain | - |
TACC3 | p.G130R | Missense | SNP | 0.700 | 2 | - | - |
TADA3 | - | - | - | - | 1 | Loss | - |
TAF1L | p.D370N | Missense | SNP | 1.000 | 1 | Loss | - |
TAF2 | - | - | - | - | 5 | Amp | - |
TAF3 | p.P803L | Missense | SNP | 0.635 | 2 | - | - |
TAF4 | p.P500L | Missense | SNP | 0.522 | 2 | - | - |
TAF4B | p.I380N | Missense | SNP | 0.483 | 2 | - | - |
TAF6 | p.A669T | Missense | SNP | 0.472 | 3 | Gain | - |
TAF6L | p.D343H | Missense | SNP | 0.517 | 2 | - | - |
TAF9 | p.P103S | Missense | SNP | 0.624 | 2 | - | - |
TAGLN | p.Q96E | Missense | SNP | 0.294 | 2 | - | - |
TAGLN3 | - | - | - | - | 3 | Gain | - |
TAL2 | - | - | - | - | 3 | Gain | - |
TAMM41 | - | - | - | - | 1 | Loss | - |
TARM1 | - | - | - | - | 1 | Loss | - |
TAS1R1 | p.T594I | Missense | SNP | 0.542 | 2 | - | - |
TAS1R2 | p.G677E | Missense | SNP | 0.524 | 2 | - | - |
TAS2R14 | p.E306K | Missense | SNP | 0.488 | 2 | - | - |
TAS2R16 | - | - | - | - | 3 | Gain | - |
TAS2R3 | - | - | - | - | 3 | Gain | - |
TAS2R38 | - | - | - | - | 3 | Gain | - |
TAS2R39 | - | - | - | - | 3 | Gain | - |
TAS2R4 | - | - | - | - | 3 | Gain | - |
TAS2R40 | - | - | - | - | 3 | Gain | - |
TAS2R41 | - | - | - | - | 3 | Gain | - |
TAS2R5 | - | - | - | - | 3 | Gain | - |
TAS2R60 | - | - | - | - | 3 | Gain | - |
TATDN1 | - | - | - | - | 5 | Amp | - |
TATDN2 | - | - | - | - | 1 | Loss | - |
TAX1BP1 | - | - | - | - | 3 | Gain | - |
TAX1BP3 | - | - | - | - | 1 | Loss | - |
TBC1D1 | p.R289* | Nonsense | SNP | 0.529 | 2 | - | - |
TBC1D10B | p.S70F | Missense | SNP | 0.538 | 2 | - | - |
TBC1D12 | p.P328S | Missense | SNP | 0.533 | 2 | - | - |
TBC1D13 | p.X101_splice | Splice_Site | SNP | 0.659 | 3 | Gain | - |
TBC1D17 | - | - | - | - | 1 | Loss | - |
TBC1D2 | - | - | - | - | 3 | Gain | - |
TBC1D22A | p.W2* | Nonsense | SNP | 0.494 | 2 | - | - |
TBC1D23 | - | - | - | - | 3 | Gain | - |
TBC1D26 | - | - | - | - | 1 | Loss | - |
TBC1D28 | - | - | - | - | 1 | Loss | - |
TBC1D31 | - | - | - | - | 5 | Amp | - |
TBC1D4 | p.T1147M | Missense | SNP | 0.571 | 2 | - | - |
TBC1D5 | - | - | - | - | 1 | Loss | - |
TBC1D9 | p.W677* | Nonsense | SNP | 0.327 | 2 | - | - |
TBC1D9B | - | - | - | - | 1 | Loss | - |
TBCCD1 | - | - | - | - | 3 | Gain | - |
TBCK | p.D22N | Missense | SNP | 0.280 | 2 | - | - |
TBL1XR1 | - | - | - | - | 3 | Gain | - |
TBL2 | - | - | - | - | 3 | Gain | - |
TBP | p.E157K | Missense | SNP | 0.585 | 2 | - | - |
TBRG4 | - | - | - | - | 3 | Gain | - |
TBX18 | p.D279N | Missense | SNP | 0.413 | 2 | - | - |
TBX20 | - | - | - | - | 3 | Gain | - |
TBX22 | p.N490S | Missense | SNP | 1.000 | ND | ND | - |
TBXA2R | - | - | - | - | 1 | Loss | - |
TBXAS1 | - | - | - | - | 3 | Gain | - |
TCAF1 | - | - | - | - | 3 | Gain | - |
TCAF2 | - | - | - | - | 3 | Gain | - |
TCAIM | - | - | - | - | 1 | Loss | - |
TCEA1 | - | - | - | - | 5 | Amp | - |
TCEAL2 | p.R140S | Missense | SNP | 1.000 | ND | ND | - |
TCERG1 | - | - | - | - | 1 | Loss | - |
TCERG1L | p.A241V | Missense | SNP | 0.441 | 2 | - | - |
TCF24 | - | - | - | - | 5 | Amp | - |
TCF3 | - | - | - | - | 1 | Loss | - |
TCF7 | - | - | - | - | 1 | Loss | - |
TCF7L2 | p.P552L | Missense | SNP | 0.451 | 2 | - | - |
TCHH | - | - | - | - | 3 | Gain | - |
TCOF1 | - | - | - | - | 1 | Loss | - |
TCP11X2 | p.N185K | Missense | SNP | 0.494 | ND | ND | - |
TCTA | - | - | - | - | 1 | Loss | - |
TCTEX1D2 | - | - | - | - | 3 | Gain | - |
TDGF1 | - | - | - | - | 1 | Loss | - |
TDRD5 | p.G293E | Missense | SNP | 0.522 | 2 | - | - |
TDRD7 | p.P40S | Missense | SNP | 0.638 | 3 | Gain | - |
TEAD2 | p.E25K | Missense | SNP | 0.540 | 1 | Loss | - |
TECPR1 | - | - | - | - | 3 | Gain | - |
TECPR2 | p.M804I | Missense | SNP | 0.437 | 2 | - | - |
TEK | - | - | - | - | 1 | Loss | - |
TEKT1 | - | - | - | - | 1 | Loss | - |
TEKT3 | - | - | - | - | 1 | Loss | - |
TENM2 | - | - | - | - | 1 | Loss | - |
TENM3 | - | - | - | - | 1 | Loss | - |
TENM4 | p.S454F | Missense | SNP | 0.383 | 2 | - | - |
TERF1 | - | - | - | - | 5 | Amp | - |
TES | - | - | - | - | 3 | Gain | - |
TESK1 | - | - | - | - | 1 | Loss | - |
TET1 | p.P266L | Missense | SNP | 0.489 | 2 | - | - |
TET3 | p.P1617L | Missense | SNP | 0.608 | 1 | Loss | - |
TEX10 | - | - | - | - | 3 | Gain | - |
TEX14 | p.T1208I | Missense | SNP | 0.648 | 2 | - | - |
TEX15 | p.S1500F p.E511K | Missense Missense | SNP SNP | 0.343 0.384 | 2 | - | - |
TEX264 | - | - | - | - | 1 | Loss | - |
TEX43 | - | - | - | - | 1 | Loss | - |
TEX45 | - | - | - | - | 1 | Loss | - |
TEX47 | - | - | - | - | 3 | Gain | - |
TEX48 | - | - | - | - | 3 | Gain | - |
TF | - | - | - | - | 3 | Gain | - |
TFAP2D | p.G262S | Missense | SNP | 0.421 | 2 | - | - |
TFB2M | - | - | - | - | 3 | Gain | - |
TFDP2 | - | - | - | - | 3 | Gain | - |
TFEC | - | - | - | - | 3 | Gain | - |
TFG | p.P265S | Missense | SNP | 0.702 | 3 | Gain | - |
TFPI2 | - | - | - | - | 3 | Gain | - |
TFPT | - | - | - | - | 1 | Loss | - |
TFR2 | - | - | - | - | 3 | Gain | - |
TFRC | - | - | - | - | 3 | Gain | - |
TG | p.W1368* | Nonsense | SNP | 0.093 | 5 | Amp | - |
TGFBI | - | - | - | - | 1 | Loss | - |
TGFBR1 | - | - | - | - | 3 | Gain | - |
TGFBR2 | - | - | - | - | 1 | Loss | - |
TGFBR3L | - | - | - | - | 1 | Loss | - |
TGM4 | - | - | - | - | 1 | Loss | - |
TGS1 | - | - | - | - | 5 | Amp | - |
THAP5 | - | - | - | - | 3 | Gain | - |
THAP8 | p.G243R | Missense | SNP | 0.495 | 2 | - | - |
THAP9 | p.F25I | Missense | SNP | 0.321 | 2 | - | - |
THEG | - | - | - | - | 1 | Loss | - |
THEM6 | - | - | - | - | 6 | Amp | - |
THG1L | - | - | - | - | 1 | Loss | - |
THOC3 | - | - | - | - | 1 | Loss | - |
THOC7 | - | - | - | - | 1 | Loss | - |
THOP1 | - | - | - | - | 1 | Loss | - |
THPO | - | - | - | - | 3 | Gain | - |
THRB | - | - | - | - | 1 | Loss | - |
THSD1 | p.P571L | Missense | SNP | 0.462 | 2 | - | - |
THSD7A | p.P1205S | Missense | SNP | 0.542 | 3 | Gain | - |
THSD7B | p.P429L | Missense | SNP | 0.528 | 2 | - | - |
THUMPD3 | - | - | - | - | 1 | Loss | - |
THY1 | p.S17F | Missense | SNP | 0.388 | 2 | - | - |
TICAM1 | p.P488S | Missense | SNP | 0.642 | 1 | Loss | - |
TIE1 | p.G767S | Missense | SNP | 0.528 | 2 | - | - |
TIFAB | - | - | - | - | 1 | Loss | - |
TIGD5 | - | - | - | - | 6 | Amp | - |
TIGD6 | - | - | - | - | 1 | Loss | - |
TIGIT | - | - | - | - | 3 | Gain | - |
TIMD4 | - | - | - | - | 1 | Loss | - |
TIMM13 | - | - | - | - | 1 | Loss | - |
TIMM22 | - | - | - | - | 1 | Loss | - |
TIMM44 | - | - | - | - | 1 | Loss | - |
TIMMDC1 | - | - | - | - | 3 | Gain | - |
TIMP4 | - | - | - | - | 1 | Loss | - |
TIPARP | - | - | - | - | 3 | Gain | - |
TJP2 | - | - | - | - | 3 | Gain | - |
TJP3 | p.G412S | Missense | SNP | 0.333 | 1 | Loss | - |
TKT | - | - | - | - | 1 | Loss | - |
TLCD2 | p.G73C | Missense | SNP | 0.692 | 1 | Loss | - |
TLDC2 | p.E210Gfs*22 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
TLE1 | - | - | - | - | 3 | Gain | - |
TLE2 | - | - | - | - | 1 | Loss | - |
TLE4 | p.D315G | Missense | SNP | 0.639 | 3 | Gain | - |
TLE6 | - | - | - | - | 1 | Loss | - |
TLN1 | - | - | - | - | 1 | Loss | - |
TLR3 | - | - | - | - | 1 | Loss | - |
TLR4 | - | - | - | - | 3 | Gain | - |
TLR9 | p.P109S | Missense | SNP | 0.695 | 1 | Loss | - |
TLX2 | - | - | - | - | 1 | Loss | - |
TLX3 | - | - | - | - | 1 | Loss | - |
TM4SF1 | - | - | - | - | 3 | Gain | - |
TM4SF18 | - | - | - | - | 3 | Gain | - |
TM4SF19 | - | - | - | - | 3 | Gain | - |
TM4SF19-TCTEX1D2 | - | - | - | - | 3 | Gain | - |
TM4SF4 | - | - | - | - | 3 | Gain | - |
TM4SF5 | - | - | - | - | 1 | Loss | - |
TM6SF1 | p.G161E | Missense | SNP | 0.438 | 2 | - | - |
TM6SF2 | - | - | - | - | 1 | Loss | - |
TMA7 | - | - | - | - | 1 | Loss | - |
TMC1 | p.T297I | Missense | SNP | 0.599 | 3 | Gain | - |
TMC4 | - | - | - | - | 1 | Loss | - |
TMC6 | p.M168T | Missense | SNP | 0.722 | 2 | - | - |
TMCC1 | - | - | - | - | 3 | Gain | - |
TMCO6 | - | - | - | - | 1 | Loss | - |
TMED4 | - | - | - | - | 3 | Gain | - |
TMED7 | - | - | - | - | 1 | Loss | - |
TMED7-TICAM2 | - | - | - | - | 1 | Loss | - |
TMED9 | - | - | - | - | 1 | Loss | - |
TMEFF1 | - | - | - | - | 3 | Gain | - |
TMEM102 | - | - | - | - | 1 | Loss | - |
TMEM106B | - | - | - | - | 3 | Gain | - |
TMEM107 | - | - | - | - | 1 | Loss | - |
TMEM108 | - | - | - | - | 3 | Gain | - |
TMEM110-MUSTN1 | - | - | - | - | 1 | Loss | - |
TMEM114 | p.S188F | Missense | SNP | 0.446 | 2 | - | - |
TMEM115 | - | - | - | - | 1 | Loss | - |
TMEM120A | - | - | - | - | 3 | Gain | - |
TMEM130 | - | - | - | - | 3 | Gain | - |
TMEM132B | p.E100K p.E340K | Missense Missense | SNP SNP | 0.562 0.495 | 2 | - | - |
TMEM132D | p.E195K | Missense | SNP | 0.383 | 2 | - | - |
TMEM135 | p.E135K | Missense | SNP | 0.422 | 2 | - | - |
TMEM139 | - | - | - | - | 3 | Gain | - |
TMEM140 | - | - | - | - | 3 | Gain | - |
TMEM141 | - | - | - | - | 3 | Gain | - |
TMEM143 | - | - | - | - | 1 | Loss | - |
TMEM158 | - | - | - | - | 1 | Loss | - |
TMEM160 | - | - | - | - | 1 | Loss | - |
TMEM161A | - | - | - | - | 1 | Loss | - |
TMEM168 | - | - | - | - | 3 | Gain | - |
TMEM173 | - | - | - | - | 1 | Loss | - |
TMEM176A | - | - | - | - | 3 | Gain | - |
TMEM176B | - | - | - | - | 3 | Gain | - |
TMEM178B | - | - | - | - | 3 | Gain | - |
TMEM184A | - | - | - | - | 3 | Gain | - |
TMEM190 | p.P119S | Missense | SNP | 0.478 | 2 | - | - |
TMEM196 | - | - | - | - | 3 | Gain | - |
TMEM198 | p.A6V p.E270K | Missense Missense | SNP SNP | 0.446 0.536 | 2 | - | - |
TMEM200C | p.D389N | Missense | SNP | 0.528 | 2 | - | - |
TMEM203 | - | - | - | - | 3 | Gain | - |
TMEM207 | - | - | - | - | 3 | Gain | - |
TMEM209 | - | - | - | - | 3 | Gain | - |
TMEM210 | - | - | - | - | 3 | Gain | - |
TMEM212 | - | - | - | - | 3 | Gain | - |
TMEM213 | - | - | - | - | 3 | Gain | - |
TMEM215 | - | - | - | - | 1 | Loss | - |
TMEM220 | - | - | - | - | 1 | Loss | - |
TMEM225B | - | - | - | - | 3 | Gain | - |
TMEM229A | - | - | - | - | 3 | Gain | - |
TMEM230 | p.P105S | Missense | SNP | 0.373 | 2 | - | - |
TMEM243 | - | - | - | - | 3 | Gain | - |
TMEM245 | - | - | - | - | 3 | Gain | - |
TMEM246 | - | - | - | - | 3 | Gain | - |
TMEM248 | - | - | - | - | 3 | Gain | - |
TMEM249 | - | - | - | - | 6 | Amp | - |
TMEM250 | - | - | - | - | 3 | Gain | - |
TMEM252 | - | - | - | - | 3 | Gain | - |
TMEM256 | - | - | - | - | 1 | Loss | - |
TMEM256-PLSCR3 | - | - | - | - | 1 | Loss | - |
TMEM259 | - | - | - | - | 1 | Loss | - |
TMEM268 | - | - | - | - | 3 | Gain | - |
TMEM270 | - | - | - | - | 3 | Gain | - |
TMEM37 | p.F104I | Missense | SNP | 0.433 | 2 | - | - |
TMEM38B | - | - | - | - | 3 | Gain | - |
TMEM39A | - | - | - | - | 3 | Gain | - |
TMEM40 | - | - | - | - | 1 | Loss | - |
TMEM41A | - | - | - | - | 3 | Gain | - |
TMEM42 | - | - | - | - | 1 | Loss | - |
TMEM43 | - | - | - | - | 1 | Loss | - |
TMEM44 | - | - | - | - | 3 | Gain | - |
TMEM45A | - | - | - | - | 3 | Gain | - |
TMEM59L | - | - | - | - | 1 | Loss | - |
TMEM60 | - | - | - | - | 3 | Gain | - |
TMEM64 | - | - | - | - | 5 | Amp | - |
TMEM65 | - | - | - | - | 5 | Amp | - |
TMEM67 | - | - | - | - | 5 | Amp | - |
TMEM68 | - | - | - | - | 5 | Amp | - |
TMEM70 | - | - | - | - | 5 | Amp | - |
TMEM71 | - | - | - | - | 5 | Amp | - |
TMEM74 | - | - | - | - | 5 | Amp | - |
TMEM88 | - | - | - | - | 1 | Loss | - |
TMEM89 | - | - | - | - | 1 | Loss | - |
TMEM8B | - | - | - | - | 1 | Loss | - |
TMEM95 | - | - | - | - | 1 | Loss | - |
TMF1 | - | - | - | - | 1 | Loss | - |
TMIE | - | - | - | - | 1 | Loss | - |
TMIGD2 | - | - | - | - | 1 | Loss | - |
TMIGD3 | p.Q23E | Missense | SNP | 0.347 | 2 | - | - |
TMOD1 | - | - | - | - | 3 | Gain | - |
TMPPE | p.L144F | Missense | SNP | 0.311 | 1 | Loss | - |
TMPRSS6 | p.S317F | Missense | SNP | 0.491 | 2 | - | - |
TMPRSS7 | p.G59D | Missense | SNP | 0.324 | 3 | Gain | - |
TMPRSS9 | - | - | - | - | 1 | Loss | - |
TMUB1 | - | - | - | - | 3 | Gain | - |
TNC | - | - | - | - | 3 | Gain | - |
TNFAIP8 | - | - | - | - | 1 | Loss | - |
TNFAIP8L1 | - | - | - | - | 1 | Loss | - |
TNFRSF11B | - | - | - | - | 5 | Amp | - |
TNFRSF13B | - | - | - | - | 1 | Loss | - |
TNFSF10 | - | - | - | - | 3 | Gain | - |
TNFSF12 | - | - | - | - | 1 | Loss | - |
TNFSF12-TNFSF13 | - | - | - | - | 1 | Loss | - |
TNFSF13 | - | - | - | - | 1 | Loss | - |
TNFSF14 | - | - | - | - | 1 | Loss | - |
TNFSF15 | - | - | - | - | 3 | Gain | - |
TNFSF8 | - | - | - | - | 3 | Gain | - |
TNFSF9 | - | - | - | - | 1 | Loss | - |
TNIK | p.Q702* | Nonsense | SNP | 0.734 | 3 | Gain | - |
TNIP1 | - | - | - | - | 1 | Loss | - |
TNK1 | - | - | - | - | 1 | Loss | - |
TNK2 | - | - | - | - | 3 | Gain | - |
TNKS2 | p.D981N | Missense | SNP | 0.457 | 2 | - | - |
TNNC1 | - | - | - | - | 1 | Loss | - |
TNP1 | p.G27D | Missense | SNP | 0.427 | 2 | - | - |
TNPO3 | - | - | - | - | 3 | Gain | - |
TNRC18 | - | - | - | - | 3 | Gain | - |
TNS3 | - | - | - | - | 3 | Gain | - |
TNXB | p.Q242* | Nonsense | SNP | 0.996 | 2 | - | - |
TOM1L2 | - | - | - | - | 1 | Loss | - |
TOMM40 | - | - | - | - | 1 | Loss | - |
TOMM5 | - | - | - | - | 1 | Loss | - |
TOMM7 | - | - | - | - | 3 | Gain | - |
TOMM70 | - | - | - | - | 3 | Gain | - |
TONSL | - | - | - | - | 6 | Amp | - |
TOP1MT | - | - | - | - | 6 | Amp | - |
TOP2B | - | - | - | - | 1 | Loss | - |
TOP3A | - | - | - | - | 1 | Loss | - |
TOPAZ1 | - | - | - | - | 1 | Loss | - |
TOPBP1 | - | - | - | - | 3 | Gain | - |
TOPORS | - | - | - | - | 1 | Loss | - |
TOR1A | - | - | - | - | 3 | Gain | - |
TOR1B | - | - | - | - | 3 | Gain | - |
TOR2A | - | - | - | - | 3 | Gain | - |
TOR4A | - | - | - | - | 3 | Gain | - |
TOX | - | - | - | - | 5 | Amp | - |
TOX2 | p.V276A | Missense | SNP | 0.617 | 2 | - | - |
TOX3 | p.M136R | Missense | SNP | 0.430 | 2 | - | - |
TP53 | p.R306* p.R273L | Nonsense Missense | SNP SNP | 0.662 0.304 | 1 | Loss | - |
TP53BP1 | p.I233K | Missense | SNP | 0.413 | 2 | - | - |
TP53BP2 | p.S381F | Missense | SNP | 0.564 | 2 | - | - |
TP53INP1 | - | - | - | - | 5 | Amp | - |
TP63 | - | - | - | - | 3 | Gain | - |
TPD52 | - | - | - | - | 5 | Amp | - |
TPD52L3 | - | - | - | - | 1 | Loss | - |
TPGS1 | - | - | - | - | 1 | Loss | - |
TPK1 | - | - | - | - | 3 | Gain | - |
TPM2 | - | - | - | - | 1 | Loss | - |
TPP1 | p.P156L | Missense | SNP | 0.529 | 2 | - | - |
TPP2 | p.E665K p.Y991S | Missense Missense | SNP SNP | 0.667 0.426 | 2 | - | - |
TPR | p.Y540H | Missense | SNP | 0.354 | 2 | - | - |
TPRA1 | - | - | - | - | 3 | Gain | - |
TPRG1 | - | - | - | - | 3 | Gain | - |
TPRG1L | p.R79C | Missense | SNP | 0.385 | 2 | - | - |
TPRN | - | - | - | - | 3 | Gain | - |
TPRX1 | - | - | - | - | 1 | Loss | - |
TPST1 | - | - | - | - | 3 | Gain | - |
TRA2A | - | - | - | - | 3 | Gain | - |
TRA2B | - | - | - | - | 3 | Gain | - |
TRAF1 | - | - | - | - | 3 | Gain | - |
TRAF2 | - | - | - | - | 3 | Gain | - |
TRAIP | - | - | - | - | 1 | Loss | - |
TRAK1 | - | - | - | - | 1 | Loss | - |
TRAM1 | - | - | - | - | 5 | Amp | - |
TRANK1 | - | - | - | - | 1 | Loss | - |
TRAPPC1 | - | - | - | - | 1 | Loss | - |
TRAPPC11 | p.P922F | Missense | MNP | 0.550 | 1 | Loss | - |
TRAPPC2B | - | - | - | - | 1 | Loss | - |
TRAPPC3 | p.L133F | Missense | SNP | 0.571 | 2 | - | - |
TRAPPC5 | - | - | - | - | 1 | Loss | - |
TRAPPC6A | - | - | - | - | 1 | Loss | - |
TRAPPC9 | - | - | - | - | 5 | Amp | - |
TRARG1 | - | - | - | - | 1 | Loss | - |
TRAT1 | - | - | - | - | 3 | Gain | - |
TRERF1 | p.P616L | Missense | SNP | 0.366 | 2 | - | - |
TREX1 | - | - | - | - | 1 | Loss | - |
TRGV2 | p.E58K | Missense | SNP | 0.526 | ND | ND | - |
TRH | - | - | - | - | 3 | Gain | - |
TRHR | - | - | - | - | 5 | Amp | - |
TRIB1 | - | - | - | - | 5 | Amp | - |
TRIL | - | - | - | - | 3 | Gain | - |
TRIM14 | - | - | - | - | 3 | Gain | - |
TRIM16 | - | - | - | - | 1 | Loss | - |
TRIM16L | - | - | - | - | 1 | Loss | - |
TRIM24 | - | - | - | - | 3 | Gain | - |
TRIM28 | - | - | - | - | 1 | Loss | - |
TRIM29 | p.S130F | Missense | SNP | 0.505 | 2 | - | - |
TRIM32 | - | - | - | - | 3 | Gain | - |
TRIM36 | - | - | - | - | 1 | Loss | - |
TRIM4 | - | - | - | - | 3 | Gain | - |
TRIM41 | - | - | - | - | 1 | Loss | - |
TRIM42 | - | - | - | - | 3 | Gain | - |
TRIM46 | p.P623L p.E644K p.P679S | Missense Missense Missense | SNP SNP SNP | 0.593 0.570 0.590 | 2 | - | - |
TRIM49B | p.H69Y | Missense | SNP | 0.496 | 1 | Loss | - |
TRIM50 | - | - | - | - | 3 | Gain | - |
TRIM51GP | - | - | - | - | 1 | Loss | - |
TRIM52 | - | - | - | - | 1 | Loss | - |
TRIM55 | - | - | - | - | 5 | Amp | - |
TRIM56 | - | - | - | - | 3 | Gain | - |
TRIM58 | - | - | - | - | 3 | Gain | - |
TRIM59 | - | - | - | - | 3 | Gain | - |
TRIM64C | - | - | - | - | 1 | Loss | - |
TRIM68 | p.R83Vfs*3 | Frame_Shift_Del | DEL | 0.516 | 2 | - | - |
TRIM7 | - | - | - | - | 1 | Loss | - |
TRIM71 | - | - | - | - | 1 | Loss | - |
TRIM73 | - | - | - | - | 3 | Gain | - |
TRIM74 | - | - | - | - | 3 | Gain | - |
TRIML1 | - | - | - | - | 1 | Loss | - |
TRIML2 | - | - | - | - | 1 | Loss | - |
TRIOBP | p.R1567Q | Missense | SNP | 0.466 | 2 | - | - |
TRIP10 | - | - | - | - | 1 | Loss | - |
TRIP6 | - | - | - | - | 3 | Gain | - |
TRIQK | - | - | - | - | 5 | Amp | - |
TRMO | - | - | - | - | 3 | Gain | - |
TRMT1 | p.H423Y | Missense | SNP | 0.482 | 2 | - | - |
TRMT10B | - | - | - | - | 1 | Loss | - |
TRMT10C | - | - | - | - | 3 | Gain | - |
TRMT12 | - | - | - | - | 5 | Amp | - |
TRNT1 | - | - | - | - | 1 | Loss | - |
TRPA1 | p.E16D | Missense | SNP | 0.254 | 5 | Amp | - |
TRPC1 | - | - | - | - | 3 | Gain | - |
TRPC4 | p.G693E | Missense | SNP | 0.592 | 2 | - | - |
TRPC7 | p.S215L | Missense | SNP | 0.393 | 1 | Loss | - |
TRPM2 | p.G28R | Missense | SNP | 1.000 | 2 | - | - |
TRPM3 | - | - | - | - | 3 | Gain | - |
TRPM4 | - | - | - | - | 1 | Loss | - |
TRPM6 | - | - | - | - | 3 | Gain | - |
TRPM7 | p.D609H | Missense | SNP | 0.198 | 2 | - | - |
TRPS1 | - | - | - | - | 5 | Amp | - |
TRPV1 | - | - | - | - | 1 | Loss | - |
TRPV2 | - | - | - | - | 1 | Loss | - |
TRPV3 | - | - | - | - | 1 | Loss | - |
TRPV4 | p.P211L | Missense | SNP | 0.582 | 2 | - | - |
TRPV5 | p.M577I | Missense | SNP | 1.000 | 3 | Gain | - |
TRPV6 | - | - | - | - | 3 | Gain | - |
TRRAP | p.S722F | Missense | SNP | 0.465 | 3 | Gain | - |
TRUB2 | - | - | - | - | 3 | Gain | - |
TSC1 | - | - | - | - | 3 | Gain | - |
TSC22D2 | - | - | - | - | 3 | Gain | - |
TSC22D4 | - | - | - | - | 3 | Gain | - |
TSEN2 | - | - | - | - | 1 | Loss | - |
TSEN34 | - | - | - | - | 1 | Loss | - |
TSGA10 | p.E500K | Missense | SNP | 0.548 | 2 | - | - |
TSGA13 | - | - | - | - | 3 | Gain | - |
TSHZ1 | p.P659S | Missense | SNP | 0.478 | 2 | - | - |
TSHZ3 | p.S1067F | Missense | SNP | 0.384 | 2 | - | - |
TSKS | - | - | - | - | 1 | Loss | - |
TSNARE1 | - | - | - | - | 6 | Amp | - |
TSPAN12 | - | - | - | - | 3 | Gain | - |
TSPAN13 | - | - | - | - | 3 | Gain | - |
TSPAN17 | - | - | - | - | 1 | Loss | - |
TSPAN33 | - | - | - | - | 3 | Gain | - |
TSPEAR | p.G595E | Missense | SNP | 1.000 | 2 | - | - |
TSPYL4 | p.N249I | Missense | SNP | 0.456 | 2 | - | - |
TSPYL5 | - | - | - | - | 5 | Amp | - |
TSR1 | - | - | - | - | 1 | Loss | - |
TSSK1B | p.P280S | Missense | SNP | 0.462 | 2 | - | - |
TSSK6 | - | - | - | - | 1 | Loss | - |
TSTA3 | - | - | - | - | 6 | Amp | - |
TSTD2 | - | - | - | - | 3 | Gain | - |
TTC14 | - | - | - | - | 3 | Gain | - |
TTC16 | p.E634K | Missense | SNP | 1.000 | 3 | Gain | - |
TTC17 | p.T878I | Missense | SNP | 0.523 | 2 | - | - |
TTC19 | - | - | - | - | 1 | Loss | - |
TTC21A | - | - | - | - | 1 | Loss | - |
TTC26 | - | - | - | - | 3 | Gain | - |
TTC31 | - | - | - | - | 1 | Loss | - |
TTC39B | - | - | - | - | 1 | Loss | - |
TTC6 | p.P117L | Missense | SNP | 0.506 | 2 | - | - |
TTF1 | - | - | - | - | 3 | Gain | - |
TTLL11 | - | - | - | - | 3 | Gain | - |
TTLL3 | - | - | - | - | 1 | Loss | - |
TTN | p.E33183Sfs*16 p.E31103K p.P20066L p.R18858L p.R15083Q p.E10002A p.L8389F p.V4556I p.E3788K p.L1271F p.P309S p.G85R | Frame_Shift_Del Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense | DEL SNP MNP SNP SNP SNP SNP SNP SNP SNP SNP SNP | 0.414 0.469 0.421 0.090 0.433 0.560 0.478 0.396 0.414 0.449 0.255 0.410 | 2 | - | - |
TTPA | - | - | - | - | 5 | Amp | - |
TTYH1 | - | - | - | - | 1 | Loss | - |
TTYH3 | - | - | - | - | 3 | Gain | - |
TUBA3C | p.A174V | Missense | SNP | 0.478 | 2 | - | - |
TUBB2B | p.G132S | Missense | SNP | 0.762 | 2 | - | - |
TUBB4A | p.G104R | Missense | SNP | 0.603 | 1 | Loss | - |
TUBB4B | - | - | - | - | 3 | Gain | - |
TUBGCP4 | p.R443W | Missense | SNP | 0.507 | 2 | - | - |
TULP2 | - | - | - | - | 1 | Loss | - |
TUSC1 | - | - | - | - | 1 | Loss | - |
TUSC2 | - | - | - | - | 1 | Loss | - |
TUT1 | p.G6E | Missense | SNP | 0.554 | 2 | - | - |
TUT7 | - | - | - | - | 3 | Gain | - |
TVP23B | p.W92* | Nonsense | SNP | 0.618 | 1 | Loss | - |
TVP23C | - | - | - | - | 1 | Loss | - |
TVP23C-CDRT4 | - | - | - | - | 1 | Loss | - |
TWF2 | - | - | - | - | 1 | Loss | - |
TWIST1 | - | - | - | - | 3 | Gain | - |
TWISTNB | - | - | - | - | 3 | Gain | - |
TXN | - | - | - | - | 3 | Gain | - |
TXNDC15 | - | - | - | - | 1 | Loss | - |
TXNDC16 | p.F135Y | Missense | SNP | 0.412 | 2 | - | - |
TXNDC17 | - | - | - | - | 1 | Loss | - |
TXNDC8 | - | - | - | - | 3 | Gain | - |
TXNRD3 | - | - | - | - | 3 | Gain | - |
TYRP1 | - | - | - | - | 1 | Loss | - |
TYW1 | - | - | - | - | 3 | Gain | - |
TYW1B | - | - | - | - | 3 | Gain | - |
U2SURP | - | - | - | - | 3 | Gain | - |
UAP1L1 | - | - | - | - | 3 | Gain | - |
UBA1 | p.P840S | Missense | SNP | 1.000 | ND | ND | - |
UBA3 | - | - | - | - | 1 | Loss | - |
UBA5 | - | - | - | - | 3 | Gain | - |
UBA52 | - | - | - | - | 1 | Loss | - |
UBA6 | p.S629F | Missense | SNP | 0.280 | 2 | - | - |
UBA7 | - | - | - | - | 1 | Loss | - |
UBAC1 | - | - | - | - | 3 | Gain | - |
UBALD1 | p.G56E | Missense | SNP | 0.344 | 2 | - | - |
UBAP1 | - | - | - | - | 1 | Loss | - |
UBAP2 | - | - | - | - | 1 | Loss | - |
UBASH3A | p.G320E p.G632E | Missense Missense | SNP SNP | 0.427 0.394 | 2 | - | - |
UBB | - | - | - | - | 1 | Loss | - |
UBE2B | - | - | - | - | 1 | Loss | - |
UBE2D2 | - | - | - | - | 1 | Loss | - |
UBE2D4 | - | - | - | - | 3 | Gain | - |
UBE2E1 | - | - | - | - | 1 | Loss | - |
UBE2E2 | - | - | - | - | 1 | Loss | - |
UBE2G1 | - | - | - | - | 1 | Loss | - |
UBE2H | - | - | - | - | 3 | Gain | - |
UBE2J1 | - | - | - | - | 1 | Loss | - |
UBE2M | - | - | - | - | 1 | Loss | - |
UBE2R2 | - | - | - | - | 1 | Loss | - |
UBE2V2 | - | - | - | - | 5 | Amp | - |
UBE2W | - | - | - | - | 5 | Amp | - |
UBE3C | - | - | - | - | 3 | Gain | - |
UBFD1 | p.P217S | Missense | SNP | 0.394 | 2 | - | - |
UBLCP1 | - | - | - | - | 1 | Loss | - |
UBN2 | - | - | - | - | 3 | Gain | - |
UBP1 | - | - | - | - | 1 | Loss | - |
UBQLN1 | p.S408N | Missense | SNP | 0.303 | 3 | Gain | - |
UBR4 | p.N2781K | Missense | SNP | 0.514 | 2 | - | - |
UBR5 | p.I1130Lfs*11 | Frame_Shift_Del | DEL | 0.159 | 5 | Amp | - |
UBTD2 | - | - | - | - | 1 | Loss | - |
UBXN2B | - | - | - | - | 5 | Amp | - |
UBXN6 | - | - | - | - | 1 | Loss | - |
UBXN7 | - | - | - | - | 3 | Gain | - |
UCK1 | - | - | - | - | 3 | Gain | - |
UCN2 | - | - | - | - | 1 | Loss | - |
UFSP1 | - | - | - | - | 3 | Gain | - |
UFSP2 | - | - | - | - | 1 | Loss | - |
UGCG | - | - | - | - | 3 | Gain | - |
UGGT2 | p.R369* | Nonsense | SNP | 0.519 | 2 | - | - |
UGT1A3 | p.S221F | Missense | SNP | 0.471 | 2 | - | - |
UGT1A4 | p.L5F | Missense | SNP | 0.625 | 2 | - | - |
UGT2A3 | - | - | - | - | 1 | Loss | - |
UGT2B10 | p.Q100* | Nonsense | SNP | 0.641 | 1 | Loss | - |
UGT2B11 | - | - | - | - | 1 | Loss | - |
UGT2B28 | - | - | - | - | 1 | Loss | - |
UGT2B4 | p.P66S | Missense | SNP | 0.323 | 1 | Loss | - |
UGT2B7 | - | - | - | - | 1 | Loss | - |
UGT3A1 | p.P324S | Missense | SNP | 0.544 | 2 | - | - |
UHRF1 | - | - | - | - | 1 | Loss | - |
UHRF1BP1 | p.S690F | Missense | SNP | 0.600 | 2 | - | - |
UHRF1BP1L | p.L392R | Missense | MNP | 0.500 | 2 | - | - |
UHRF2 | - | - | - | - | 1 | Loss | - |
UIMC1 | - | - | - | - | 1 | Loss | - |
ULK2 | - | - | - | - | 1 | Loss | - |
ULK4 | - | - | - | - | 1 | Loss | - |
UMAD1 | - | - | - | - | 3 | Gain | - |
UMODL1 | p.P809S | Missense | SNP | 0.543 | 2 | - | - |
UMPS | - | - | - | - | 3 | Gain | - |
UNC119 | p.P197L | Missense | SNP | 0.730 | 2 | - | - |
UNC13B | - | - | - | - | 1 | Loss | - |
UNC13C | p.G1624E | Missense | SNP | 0.495 | 2 | - | - |
UNC5A | - | - | - | - | 1 | Loss | - |
UNC79 | p.P594S | Missense | SNP | 0.507 | 2 | - | - |
UNC80 | p.S1074F | Missense | SNP | 0.564 | 2 | - | - |
UNCX | - | - | - | - | 3 | Gain | - |
UNKL | p.P397F | Missense | MNP | 0.227 | 2 | - | - |
UPF1 | p.P119L p.P894L | Missense Missense | SNP MNP | 0.308 0.358 | 1 | Loss | - |
UPK1B | - | - | - | - | 3 | Gain | - |
UPK3B | - | - | - | - | 3 | Gain | - |
UPK3BL1 | - | - | - | - | 3 | Gain | - |
UPP1 | - | - | - | - | 3 | Gain | - |
UQCR11 | - | - | - | - | 1 | Loss | - |
UQCRB | - | - | - | - | 5 | Amp | - |
UQCRC1 | - | - | - | - | 1 | Loss | - |
UQCRQ | - | - | - | - | 1 | Loss | - |
URGCP | - | - | - | - | 3 | Gain | - |
URGCP-MRPS24 | - | - | - | - | 3 | Gain | - |
URM1 | - | - | - | - | 3 | Gain | - |
UROC1 | - | - | - | - | 3 | Gain | - |
USF3 | - | - | - | - | 3 | Gain | - |
USP13 | - | - | - | - | 3 | Gain | - |
USP19 | - | - | - | - | 1 | Loss | - |
USP20 | p.S737F | Missense | SNP | 0.355 | 3 | Gain | - |
USP28 | p.S996F p.S943F | Missense Missense | SNP SNP | 0.497 0.479 | 2 | - | - |
USP29 | - | - | - | - | 1 | Loss | - |
USP33 | p.H666N | Missense | SNP | 0.590 | 2 | - | - |
USP34 | p.E2480K p.K1659N | Missense Missense | SNP SNP | 0.611 0.341 | 2 | - | - |
USP35 | p.E361D;p.D362N | Missense | MNP | 0.488 | 2 | - | - |
USP4 | p.S595F | Missense | SNP | 0.616 | 1 | Loss | - |
USP42 | - | - | - | - | 3 | Gain | - |
USP43 | - | - | - | - | 1 | Loss | - |
USP6 | - | - | - | - | 1 | Loss | - |
UTP23 | - | - | - | - | 5 | Amp | - |
UTRN | p.E2404K p.G3386D | Missense Missense | SNP SNP | 0.667 0.312 | 2 | - | - |
UTS2B | - | - | - | - | 3 | Gain | - |
UXS1 | p.P410S | Missense | SNP | 0.348 | 2 | - | - |
VAMP2 | - | - | - | - | 1 | Loss | - |
VASP | - | - | - | - | 1 | Loss | - |
VAV1 | - | - | - | - | 1 | Loss | - |
VAV2 | - | - | - | - | 3 | Gain | - |
VAV3 | p.G536R | Missense | SNP | 0.443 | 2 | - | - |
VAX2 | p.S226F | Missense | SNP | 0.500 | 2 | - | - |
VCAN | p.P1156F p.D2529N | Missense Missense | MNP SNP | 0.575 0.500 | 2 | - | - |
VCL | p.S774F | Missense | SNP | 0.417 | 2 | - | - |
VCP | - | - | - | - | 1 | Loss | - |
VCPIP1 | - | - | - | - | 5 | Amp | - |
VDAC1 | - | - | - | - | 1 | Loss | - |
VEGFC | - | - | - | - | 1 | Loss | - |
VEPH1 | - | - | - | - | 3 | Gain | - |
VGF | - | - | - | - | 3 | Gain | - |
VGLL3 | - | - | - | - | 1 | Loss | - |
VGLL4 | - | - | - | - | 1 | Loss | - |
VHL | - | - | - | - | 1 | Loss | - |
VILL | - | - | - | - | 1 | Loss | - |
VIPR1 | - | - | - | - | 1 | Loss | - |
VIPR2 | - | - | - | - | 3 | Gain | - |
VIRMA | - | - | - | - | 5 | Amp | - |
VKORC1L1 | - | - | - | - | 3 | Gain | - |
VLDLR | - | - | - | - | 1 | Loss | - |
VMAC | - | - | - | - | 1 | Loss | - |
VMO1 | - | - | - | - | 1 | Loss | - |
VN1R1 | - | - | - | - | 1 | Loss | - |
VN1R2 | - | - | - | - | 1 | Loss | - |
VN1R4 | - | - | - | - | 1 | Loss | - |
VOPP1 | - | - | - | - | 3 | Gain | - |
VPS13A | p.S2069F | Missense | SNP | 0.419 | 3 | Gain | - |
VPS13B | - | - | - | - | 5 | Amp | - |
VPS13C | p.L1395F | Missense | SNP | 0.468 | 2 | - | - |
VPS13D | p.S351F p.S4205L | Missense Missense | SNP SNP | 0.459 0.388 | 2 | - | - |
VPS28 | - | - | - | - | 6 | Amp | - |
VPS33B | p.E292K p.R290Q | Missense Missense | SNP SNP | 0.538 0.456 | 2 | - | - |
VPS37D | - | - | - | - | 3 | Gain | - |
VPS41 | - | - | - | - | 3 | Gain | - |
VPS50 | - | - | - | - | 3 | Gain | - |
VPS53 | - | - | - | - | 1 | Loss | - |
VPS8 | p.G278E p.P775S p.V889I | Missense Missense Missense | SNP SNP SNP | 0.283 0.778 0.713 | 3 | Gain | - |
VRK3 | - | - | - | - | 1 | Loss | - |
VSIG10L | - | - | - | - | 1 | Loss | - |
VSTM1 | - | - | - | - | 1 | Loss | - |
VSTM2A | - | - | - | - | 3 | Gain | - |
VWA5B1 | p.R379* p.P1102S | Nonsense Missense | SNP SNP | 0.588 0.539 | 2 | - | - |
VWA5B2 | - | - | - | - | 3 | Gain | - |
VWA8 | p.F1218L | Missense | SNP | 0.462 | 2 | - | - |
VWC2 | - | - | - | - | 3 | Gain | - |
VWDE | - | - | - | - | 3 | Gain | - |
VWF | p.S2516Vfs*21 p.S1486L | Frame_Shift_Del Missense | DEL SNP | 0.490 0.489 | 2 | - | - |
VXN | - | - | - | - | 5 | Amp | - |
WASF1 | p.L375F p.R202Q | Missense Missense | SNP SNP | 0.606 0.362 | 2 | - | - |
WASHC5 | - | - | - | - | 5 | Amp | - |
WASL | - | - | - | - | 3 | Gain | - |
WBP1 | - | - | - | - | 1 | Loss | - |
WBSCR17 | p.G425E | Missense | SNP | 0.412 | ND | ND | - |
WDFY4 | p.A1839V p.E2278K | Missense Missense | SNP SNP | 0.434 0.444 | 2 | - | - |
WDR17 | p.H338Y p.R458Q | Missense Missense | SNP SNP | 0.447 0.692 | 1 | Loss | - |
WDR18 | p.S205L | Missense | SNP | 0.268 | 1 | Loss | - |
WDR31 | - | - | - | - | 3 | Gain | - |
WDR34 | - | - | - | - | 3 | Gain | - |
WDR35 | p.Q501* p.P291S | Nonsense Missense | SNP SNP | 0.436 0.491 | 2 | - | - |
WDR38 | - | - | - | - | 3 | Gain | - |
WDR48 | - | - | - | - | 1 | Loss | - |
WDR49 | - | - | - | - | 3 | Gain | - |
WDR5 | - | - | - | - | 3 | Gain | - |
WDR53 | - | - | - | - | 3 | Gain | - |
WDR54 | - | - | - | - | 1 | Loss | - |
WDR55 | - | - | - | - | 1 | Loss | - |
WDR5B | - | - | - | - | 3 | Gain | - |
WDR6 | - | - | - | - | 1 | Loss | - |
WDR60 | - | - | - | - | 3 | Gain | - |
WDR64 | - | - | - | - | 3 | Gain | - |
WDR76 | p.R196K p.S482F | Missense Missense | SNP SNP | 0.580 0.381 | 2 | - | - |
WDR81 | p.G714S | Missense | SNP | 0.211 | 1 | Loss | - |
WDR82 | - | - | - | - | 1 | Loss | - |
WDR86 | - | - | - | - | 3 | Gain | - |
WDR87 | p.E1972K | Missense | SNP | 0.455 | 2 | - | - |
WDR91 | - | - | - | - | 3 | Gain | - |
WDR97 | - | - | - | - | 6 | Amp | - |
WDYHV1 | - | - | - | - | 5 | Amp | - |
WEE2 | - | - | - | - | 3 | Gain | - |
WFDC1 | p.G150R | Missense | SNP | 0.596 | 2 | - | - |
WFDC12 | p.G57R | Missense | SNP | 0.538 | 2 | - | - |
WHRN | - | - | - | - | 3 | Gain | - |
WIPF3 | - | - | - | - | 3 | Gain | - |
WIPI2 | - | - | - | - | 3 | Gain | - |
WISP1 | - | - | - | - | 5 | Amp | - |
WNK2 | - | - | - | - | 3 | Gain | - |
WNK3 | p.S349F | Missense | SNP | 1.000 | ND | ND | - |
WNT16 | - | - | - | - | 3 | Gain | - |
WNT2 | - | - | - | - | 3 | Gain | - |
WNT5A | - | - | - | - | 1 | Loss | - |
WNT7A | p.G285S | Missense | SNP | 0.297 | 1 | Loss | - |
WNT8A | - | - | - | - | 1 | Loss | - |
WRAP53 | - | - | - | - | 1 | Loss | - |
WSB1 | p.P299S | Missense | SNP | 0.289 | 2 | - | - |
WSCD1 | p.A321E | Missense | SNP | 0.606 | 1 | Loss | - |
WWC1 | - | - | - | - | 1 | Loss | - |
WWC2 | - | - | - | - | 1 | Loss | - |
WWP1 | - | - | - | - | 5 | Amp | - |
WWP2 | p.G478R p.X838_splice | Missense Splice_Site | SNP SNP | 0.392 0.581 | 2 | - | - |
WWTR1 | - | - | - | - | 3 | Gain | - |
XAB2 | - | - | - | - | 1 | Loss | - |
XAF1 | p.P241T | Missense | SNP | 0.714 | 1 | Loss | - |
XCR1 | - | - | - | - | 1 | Loss | - |
XIRP1 | p.E1541K p.P1444L | Missense Missense | SNP SNP | 0.634 0.227 | 1 | Loss | - |
XIRP2 | p.R1437Q p.G2938E | Missense Missense | SNP SNP | 0.466 0.493 | 2 | - | - |
XKR4 | - | - | - | - | 5 | Amp | - |
XKR6 | p.G90R | Missense | SNP | 0.565 | 2 | - | - |
XKR9 | - | - | - | - | 5 | Amp | - |
XPA | - | - | - | - | 3 | Gain | - |
XPC | p.V681E | Missense | SNP | 0.208 | 1 | Loss | - |
XRCC2 | - | - | - | - | 3 | Gain | - |
XRCC6 | p.I223T | Missense | SNP | 0.316 | 2 | - | - |
XRN1 | - | - | - | - | 3 | Gain | - |
XXYLT1 | - | - | - | - | 3 | Gain | - |
XYLB | - | - | - | - | 1 | Loss | - |
YAE1 | - | - | - | - | 3 | Gain | - |
YAP1 | p.A153V | Missense | SNP | 0.426 | 2 | - | - |
YBX2 | - | - | - | - | 1 | Loss | - |
YEATS2 | - | - | - | - | 3 | Gain | - |
YIPF5 | - | - | - | - | 1 | Loss | - |
YJEFN3 | - | - | - | - | 1 | Loss | - |
YJU2 | - | - | - | - | 1 | Loss | - |
YKT6 | - | - | - | - | 3 | Gain | - |
YLPM1 | p.S468F | Missense | SNP | 0.483 | 2 | - | - |
YTHDF3 | - | - | - | - | 5 | Amp | - |
YWHAE | - | - | - | - | 1 | Loss | - |
YWHAG | - | - | - | - | 3 | Gain | - |
YWHAZ | - | - | - | - | 5 | Amp | - |
Z84492.1 | - | - | - | - | 1 | Loss | - |
ZAN | p.E729K p.P913L | Missense Missense | SNP SNP | 0.416 0.451 | 3 | Gain | - |
ZAR1L | p.Q104H | Missense | SNP | 0.545 | 2 | - | - |
ZBBX | - | - | - | - | 3 | Gain | - |
ZBED2 | - | - | - | - | 3 | Gain | - |
ZBED6CL | - | - | - | - | 3 | Gain | - |
ZBP1 | p.E99K | Missense | SNP | 0.387 | 2 | - | - |
ZBTB10 | - | - | - | - | 5 | Amp | - |
ZBTB11 | - | - | - | - | 3 | Gain | - |
ZBTB16 | p.D367N | Missense | SNP | 0.497 | 2 | - | - |
ZBTB18 | - | - | - | - | 3 | Gain | - |
ZBTB20 | - | - | - | - | 3 | Gain | - |
ZBTB26 | - | - | - | - | 3 | Gain | - |
ZBTB34 | - | - | - | - | 3 | Gain | - |
ZBTB38 | - | - | - | - | 3 | Gain | - |
ZBTB4 | - | - | - | - | 1 | Loss | - |
ZBTB43 | p.P13S | Missense | SNP | 0.380 | 3 | Gain | - |
ZBTB45 | - | - | - | - | 1 | Loss | - |
ZBTB47 | - | - | - | - | 1 | Loss | - |
ZBTB5 | p.S577F | Missense | SNP | 1.000 | 1 | Loss | - |
ZBTB6 | - | - | - | - | 3 | Gain | - |
ZBTB7A | - | - | - | - | 1 | Loss | - |
ZC2HC1A | - | - | - | - | 5 | Amp | - |
ZC3H13 | p.R671K p.P495L p.P365L | Missense Missense Missense | SNP SNP SNP | 0.528 0.429 0.519 | 2 | - | - |
ZC3H14 | p.D71N | Missense | SNP | 0.333 | 2 | - | - |
ZC3H3 | - | - | - | - | 6 | Amp | - |
ZC3H4 | - | - | - | - | 1 | Loss | - |
ZC3HAV1 | - | - | - | - | 3 | Gain | - |
ZC3HAV1L | - | - | - | - | 3 | Gain | - |
ZC3HC1 | - | - | - | - | 3 | Gain | - |
ZCCHC10 | - | - | - | - | 1 | Loss | - |
ZCCHC18 | p.G30E | Missense | SNP | 1.000 | ND | ND | - |
ZCCHC7 | - | - | - | - | 1 | Loss | - |
ZCWPW1 | - | - | - | - | 3 | Gain | - |
ZCWPW2 | - | - | - | - | 1 | Loss | - |
ZDBF2 | p.P1916S | Missense | SNP | 0.448 | 2 | - | - |
ZDHHC12 | - | - | - | - | 3 | Gain | - |
ZDHHC19 | p.R268K | Missense | SNP | 0.601 | 3 | Gain | - |
ZDHHC21 | - | - | - | - | 1 | Loss | - |
ZDHHC23 | - | - | - | - | 3 | Gain | - |
ZDHHC3 | - | - | - | - | 1 | Loss | - |
ZDHHC4 | - | - | - | - | 3 | Gain | - |
ZER1 | - | - | - | - | 3 | Gain | - |
ZFAND1 | - | - | - | - | 5 | Amp | - |
ZFAND2A | - | - | - | - | 3 | Gain | - |
ZFAND5 | - | - | - | - | 3 | Gain | - |
ZFAT | p.D1113N | Missense | SNP | 0.095 | 5 | Amp | - |
ZFHX2 | p.G2528E | Missense | SNP | 0.500 | 2 | - | - |
ZFHX4 | p.E2255K p.P3122S | Missense Missense | SNP SNP | 0.744 0.274 | 5 | Amp | - |
ZFP2 | - | - | - | - | 1 | Loss | - |
ZFP3 | - | - | - | - | 1 | Loss | - |
ZFP36L2 | p.D32N p.E19K | Missense Missense | SNP SNP | 0.515 0.485 | 2 | - | - |
ZFP37 | - | - | - | - | 3 | Gain | - |
ZFP41 | - | - | - | - | 6 | Amp | - |
ZFP42 | - | - | - | - | 1 | Loss | - |
ZFP62 | - | - | - | - | 1 | Loss | - |
ZFP69B | p.L66* p.P240L | Frame_Shift_Del Missense | DEL SNP | 0.450 0.458 | 2 | - | - |
ZFP92 | p.N166S | Missense | SNP | 1.000 | ND | ND | - |
ZFPL1 | p.P135S | Missense | SNP | 0.503 | 2 | - | - |
ZFPM2 | - | - | - | - | 5 | Amp | - |
ZFR2 | - | - | - | - | 1 | Loss | - |
ZFYVE16 | p.S662L | Missense | SNP | 0.373 | 2 | - | - |
ZFYVE26 | p.P2455L | Missense | MNP | 0.542 | 2 | - | - |
ZFYVE27 | p.E244K | Missense | SNP | 0.456 | 2 | - | - |
ZHX1 | - | - | - | - | 5 | Amp | - |
ZHX1-C8orf76 | - | - | - | - | 5 | Amp | - |
ZHX2 | - | - | - | - | 5 | Amp | - |
ZIC1 | - | - | - | - | 3 | Gain | - |
ZIC4 | - | - | - | - | 3 | Gain | - |
ZIK1 | - | - | - | - | 1 | Loss | - |
ZIM2 | - | - | - | - | 1 | Loss | - |
ZIM3 | p.K82* | Nonsense | SNP | 0.321 | 1 | Loss | - |
ZKSCAN1 | - | - | - | - | 3 | Gain | - |
ZKSCAN5 | - | - | - | - | 3 | Gain | - |
ZKSCAN7 | - | - | - | - | 1 | Loss | - |
ZMAT3 | - | - | - | - | 3 | Gain | - |
ZMIZ2 | - | - | - | - | 3 | Gain | - |
ZMYM3 | p.G401E p.P93S | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
ZMYND10 | - | - | - | - | 1 | Loss | - |
ZMYND15 | - | - | - | - | 1 | Loss | - |
ZMYND19 | p.S116F | Missense | SNP | 0.344 | 3 | Gain | - |
ZNF100 | - | - | - | - | 1 | Loss | - |
ZNF101 | - | - | - | - | 1 | Loss | - |
ZNF106 | p.Q1185K | Missense | SNP | 0.500 | 2 | - | - |
ZNF107 | - | - | - | - | 3 | Gain | - |
ZNF114 | - | - | - | - | 1 | Loss | - |
ZNF117 | - | - | - | - | 3 | Gain | - |
ZNF12 | - | - | - | - | 3 | Gain | - |
ZNF121 | p.H194Y | Missense | SNP | 0.487 | 2 | - | - |
ZNF124 | - | - | - | - | 3 | Gain | - |
ZNF132 | - | - | - | - | 1 | Loss | - |
ZNF134 | - | - | - | - | 1 | Loss | - |
ZNF135 | p.G430K | Missense | MNP | 0.298 | 1 | Loss | - |
ZNF138 | - | - | - | - | 3 | Gain | - |
ZNF14 | - | - | - | - | 1 | Loss | - |
ZNF148 | - | - | - | - | 3 | Gain | - |
ZNF154 | - | - | - | - | 1 | Loss | - |
ZNF155 | p.K306* | Nonsense | SNP | 0.514 | 2 | - | - |
ZNF157 | p.E487K | Missense | SNP | 1.000 | ND | ND | - |
ZNF16 | - | - | - | - | 6 | Amp | - |
ZNF160 | p.M660I | Missense | SNP | 0.274 | 1 | Loss | - |
ZNF169 | - | - | - | - | 3 | Gain | - |
ZNF17 | - | - | - | - | 1 | Loss | - |
ZNF175 | - | - | - | - | 1 | Loss | - |
ZNF18 | - | - | - | - | 1 | Loss | - |
ZNF184 | p.G554E | Missense | SNP | 1.000 | 2 | - | - |
ZNF189 | - | - | - | - | 3 | Gain | - |
ZNF197 | - | - | - | - | 1 | Loss | - |
ZNF208 | - | - | - | - | 1 | Loss | - |
ZNF211 | - | - | - | - | 1 | Loss | - |
ZNF212 | - | - | - | - | 3 | Gain | - |
ZNF213 | p.S374F | Missense | SNP | 0.555 | 2 | - | - |
ZNF214 | p.G289* | Nonsense | SNP | 0.515 | 2 | - | - |
ZNF229 | p.E102K | Missense | SNP | 0.493 | 2 | - | - |
ZNF232 | - | - | - | - | 1 | Loss | - |
ZNF250 | - | - | - | - | 6 | Amp | - |
ZNF251 | - | - | - | - | 6 | Amp | - |
ZNF253 | - | - | - | - | 1 | Loss | - |
ZNF254 | - | - | - | - | 1 | Loss | - |
ZNF256 | - | - | - | - | 1 | Loss | - |
ZNF257 | - | - | - | - | 1 | Loss | - |
ZNF260 | p.H326Y | Missense | SNP | 0.478 | 2 | - | - |
ZNF264 | - | - | - | - | 1 | Loss | - |
ZNF273 | - | - | - | - | 3 | Gain | - |
ZNF274 | - | - | - | - | 1 | Loss | - |
ZNF277 | - | - | - | - | 3 | Gain | - |
ZNF28 | - | - | - | - | 1 | Loss | - |
ZNF280A | p.V220A | Missense | SNP | 0.431 | 2 | - | - |
ZNF282 | - | - | - | - | 3 | Gain | - |
ZNF284 | p.R499C | Missense | SNP | 0.500 | 2 | - | - |
ZNF286A | - | - | - | - | 1 | Loss | - |
ZNF286B | - | - | - | - | 1 | Loss | - |
ZNF287 | - | - | - | - | 1 | Loss | - |
ZNF296 | - | - | - | - | 1 | Loss | - |
ZNF3 | - | - | - | - | 3 | Gain | - |
ZNF300 | p.S379F | Missense | SNP | 0.569 | 1 | Loss | - |
ZNF304 | - | - | - | - | 1 | Loss | - |
ZNF316 | - | - | - | - | 3 | Gain | - |
ZNF320 | - | - | - | - | 1 | Loss | - |
ZNF324 | - | - | - | - | 1 | Loss | - |
ZNF324B | - | - | - | - | 1 | Loss | - |
ZNF329 | - | - | - | - | 1 | Loss | - |
ZNF331 | p.P382L | Missense | SNP | 0.239 | 1 | Loss | - |
ZNF335 | p.S991F | Missense | SNP | 0.605 | 2 | - | - |
ZNF33A | p.T217A | Missense | SNP | 0.394 | 2 | - | - |
ZNF34 | - | - | - | - | 6 | Amp | - |
ZNF346 | - | - | - | - | 1 | Loss | - |
ZNF347 | - | - | - | - | 1 | Loss | - |
ZNF35 | - | - | - | - | 1 | Loss | - |
ZNF350 | - | - | - | - | 1 | Loss | - |
ZNF354A | - | - | - | - | 1 | Loss | - |
ZNF354B | - | - | - | - | 1 | Loss | - |
ZNF354C | - | - | - | - | 1 | Loss | - |
ZNF358 | - | - | - | - | 1 | Loss | - |
ZNF367 | - | - | - | - | 3 | Gain | - |
ZNF37A | p.K535R | Missense | SNP | 0.411 | 2 | - | - |
ZNF385D | - | - | - | - | 1 | Loss | - |
ZNF394 | - | - | - | - | 3 | Gain | - |
ZNF398 | - | - | - | - | 3 | Gain | - |
ZNF415 | - | - | - | - | 1 | Loss | - |
ZNF416 | - | - | - | - | 1 | Loss | - |
ZNF417 | - | - | - | - | 1 | Loss | - |
ZNF418 | - | - | - | - | 1 | Loss | - |
ZNF419 | - | - | - | - | 1 | Loss | - |
ZNF425 | p.H492Y | Missense | SNP | 1.000 | 3 | Gain | - |
ZNF429 | - | - | - | - | 1 | Loss | - |
ZNF43 | - | - | - | - | 1 | Loss | - |
ZNF430 | - | - | - | - | 1 | Loss | - |
ZNF431 | - | - | - | - | 1 | Loss | - |
ZNF432 | - | - | - | - | 1 | Loss | - |
ZNF433 | p.E615K | Missense | SNP | 0.481 | 2 | - | - |
ZNF438 | p.P598L | Missense | SNP | 0.455 | 2 | - | - |
ZNF444 | p.P325S | Missense | SNP | 0.553 | 2 | - | - |
ZNF445 | - | - | - | - | 1 | Loss | - |
ZNF446 | - | - | - | - | 1 | Loss | - |
ZNF45 | p.S219L | Missense | SNP | 0.514 | 2 | - | - |
ZNF454 | - | - | - | - | 1 | Loss | - |
ZNF460 | - | - | - | - | 1 | Loss | - |
ZNF462 | p.V2360A | Missense | SNP | 0.300 | 3 | Gain | - |
ZNF467 | - | - | - | - | 3 | Gain | - |
ZNF468 | - | - | - | - | 1 | Loss | - |
ZNF469 | p.R2054Q | Missense | SNP | 0.476 | 2 | - | - |
ZNF470 | p.S104L | Missense | SNP | 0.557 | 2 | - | - |
ZNF473 | - | - | - | - | 1 | Loss | - |
ZNF474 | - | - | - | - | 1 | Loss | - |
ZNF479 | - | - | - | - | 3 | Gain | - |
ZNF480 | - | - | - | - | 1 | Loss | - |
ZNF483 | - | - | - | - | 3 | Gain | - |
ZNF484 | p.H352Y | Missense | SNP | 0.357 | 3 | Gain | - |
ZNF486 | - | - | - | - | 1 | Loss | - |
ZNF492 | - | - | - | - | 1 | Loss | - |
ZNF493 | - | - | - | - | 1 | Loss | - |
ZNF496 | - | - | - | - | 3 | Gain | - |
ZNF497 | - | - | - | - | 1 | Loss | - |
ZNF501 | - | - | - | - | 1 | Loss | - |
ZNF502 | - | - | - | - | 1 | Loss | - |
ZNF506 | - | - | - | - | 1 | Loss | - |
ZNF510 | - | - | - | - | 3 | Gain | - |
ZNF517 | - | - | - | - | 6 | Amp | - |
ZNF518A | p.P1353L | Missense | SNP | 0.469 | 2 | - | - |
ZNF521 | p.G102E | Missense | SNP | 0.590 | 2 | - | - |
ZNF525 | - | - | - | - | 1 | Loss | - |
ZNF528 | - | - | - | - | 1 | Loss | - |
ZNF530 | - | - | - | - | 1 | Loss | - |
ZNF534 | - | - | - | - | 1 | Loss | - |
ZNF536 | p.P24L | Missense | SNP | 0.445 | 2 | - | - |
ZNF541 | p.S792F | Missense | SNP | 0.344 | 1 | Loss | - |
ZNF543 | - | - | - | - | 1 | Loss | - |
ZNF544 | p.G610E | Missense | SNP | 0.297 | 1 | Loss | - |
ZNF547 | - | - | - | - | 1 | Loss | - |
ZNF548 | - | - | - | - | 1 | Loss | - |
ZNF549 | - | - | - | - | 1 | Loss | - |
ZNF550 | - | - | - | - | 1 | Loss | - |
ZNF551 | - | - | - | - | 1 | Loss | - |
ZNF552 | - | - | - | - | 1 | Loss | - |
ZNF554 | - | - | - | - | 1 | Loss | - |
ZNF555 | - | - | - | - | 1 | Loss | - |
ZNF556 | - | - | - | - | 1 | Loss | - |
ZNF557 | p.S166F | Missense | SNP | 0.343 | 1 | Loss | - |
ZNF569 | p.R458K p.Q104* | Missense Nonsense | SNP SNP | 0.573 0.378 | 2 | - | - |
ZNF57 | - | - | - | - | 1 | Loss | - |
ZNF572 | p.E49K | Missense | SNP | 0.817 | 5 | Amp | - |
ZNF577 | - | - | - | - | 1 | Loss | - |
ZNF578 | - | - | - | - | 1 | Loss | - |
ZNF584 | - | - | - | - | 1 | Loss | - |
ZNF586 | - | - | - | - | 1 | Loss | - |
ZNF587 | - | - | - | - | 1 | Loss | - |
ZNF587B | - | - | - | - | 1 | Loss | - |
ZNF589 | - | - | - | - | 1 | Loss | - |
ZNF594 | p.H643Y | Missense | SNP | 0.598 | 1 | Loss | - |
ZNF600 | - | - | - | - | 1 | Loss | - |
ZNF606 | p.H618Y | Missense | SNP | 0.400 | 1 | Loss | - |
ZNF607 | p.H471Y | Missense | SNP | 0.434 | 2 | - | - |
ZNF608 | - | - | - | - | 1 | Loss | - |
ZNF610 | - | - | - | - | 1 | Loss | - |
ZNF611 | - | - | - | - | 1 | Loss | - |
ZNF613 | - | - | - | - | 1 | Loss | - |
ZNF614 | p.N458Y;p.C457* | Nonsense | MNP | 0.563 | 1 | Loss | - |
ZNF615 | - | - | - | - | 1 | Loss | - |
ZNF616 | - | - | - | - | 1 | Loss | - |
ZNF618 | - | - | - | - | 3 | Gain | - |
ZNF619 | - | - | - | - | 1 | Loss | - |
ZNF620 | - | - | - | - | 1 | Loss | - |
ZNF621 | - | - | - | - | 1 | Loss | - |
ZNF623 | - | - | - | - | 6 | Amp | - |
ZNF624 | - | - | - | - | 1 | Loss | - |
ZNF626 | - | - | - | - | 1 | Loss | - |
ZNF639 | - | - | - | - | 3 | Gain | - |
ZNF646 | p.R897K | Missense | SNP | 0.357 | 2 | - | - |
ZNF648 | p.G472D | Missense | SNP | 0.404 | 2 | - | - |
ZNF649 | - | - | - | - | 1 | Loss | - |
ZNF654 | - | - | - | - | 1 | Loss | - |
ZNF655 | - | - | - | - | 3 | Gain | - |
ZNF658 | - | - | - | - | 3 | Gain | - |
ZNF66 | - | - | - | - | 1 | Loss | - |
ZNF660 | - | - | - | - | 1 | Loss | - |
ZNF662 | - | - | - | - | 1 | Loss | - |
ZNF665 | - | - | - | - | 1 | Loss | - |
ZNF667 | p.R58L | Missense | SNP | 0.274 | 2 | - | - |
ZNF669 | - | - | - | - | 3 | Gain | - |
ZNF670 | - | - | - | - | 3 | Gain | - |
ZNF670-ZNF695 | - | - | - | - | 3 | Gain | - |
ZNF671 | - | - | - | - | 1 | Loss | - |
ZNF672 | - | - | - | - | 3 | Gain | - |
ZNF675 | - | - | - | - | 1 | Loss | - |
ZNF676 | - | - | - | - | 1 | Loss | - |
ZNF677 | - | - | - | - | 1 | Loss | - |
ZNF679 | - | - | - | - | 3 | Gain | - |
ZNF680 | - | - | - | - | 3 | Gain | - |
ZNF681 | - | - | - | - | 1 | Loss | - |
ZNF682 | - | - | - | - | 1 | Loss | - |
ZNF683 | p.G387E | Missense | SNP | 0.500 | 2 | - | - |
ZNF692 | - | - | - | - | 3 | Gain | - |
ZNF695 | - | - | - | - | 3 | Gain | - |
ZNF696 | - | - | - | - | 6 | Amp | - |
ZNF7 | - | - | - | - | 6 | Amp | - |
ZNF701 | - | - | - | - | 1 | Loss | - |
ZNF704 | - | - | - | - | 5 | Amp | - |
ZNF706 | - | - | - | - | 5 | Amp | - |
ZNF707 | - | - | - | - | 6 | Amp | - |
ZNF708 | - | - | - | - | 1 | Loss | - |
ZNF713 | - | - | - | - | 3 | Gain | - |
ZNF714 | - | - | - | - | 1 | Loss | - |
ZNF716 | - | - | - | - | 4 | Gain | - |
ZNF717 | - | - | - | - | 1 | Loss | - |
ZNF721 | p.C702S | Missense | SNP | 0.656 | 2 | - | - |
ZNF723 | - | - | - | - | 1 | Loss | - |
ZNF724 | - | - | - | - | 1 | Loss | - |
ZNF726 | - | - | - | - | 1 | Loss | - |
ZNF727 | - | - | - | - | 3 | Gain | - |
ZNF728 | - | - | - | - | 1 | Loss | - |
ZNF729 | p.A736G p.S748A | Missense Missense | SNP SNP | 0.202 0.220 | 1 | Loss | - |
ZNF730 | p.E259K | Missense | SNP | 0.337 | 1 | Loss | - |
ZNF735 | - | - | - | - | 3 | Gain | - |
ZNF736 | - | - | - | - | 3 | Gain | - |
ZNF737 | - | - | - | - | 1 | Loss | - |
ZNF738 | - | - | - | - | 1 | Loss | - |
ZNF746 | - | - | - | - | 3 | Gain | - |
ZNF749 | p.P480S | Missense | SNP | 0.608 | 1 | Loss | - |
ZNF761 | p.R737C | Missense | SNP | 0.691 | 1 | Loss | - |
ZNF765 | - | - | - | - | 1 | Loss | - |
ZNF766 | - | - | - | - | 1 | Loss | - |
ZNF77 | - | - | - | - | 1 | Loss | - |
ZNF772 | - | - | - | - | 1 | Loss | - |
ZNF773 | - | - | - | - | 1 | Loss | - |
ZNF775 | - | - | - | - | 3 | Gain | - |
ZNF776 | - | - | - | - | 1 | Loss | - |
ZNF777 | - | - | - | - | 3 | Gain | - |
ZNF782 | - | - | - | - | 3 | Gain | - |
ZNF783 | - | - | - | - | 3 | Gain | - |
ZNF786 | - | - | - | - | 3 | Gain | - |
ZNF789 | - | - | - | - | 3 | Gain | - |
ZNF79 | - | - | - | - | 3 | Gain | - |
ZNF793 | p.S347F | Missense | SNP | 0.498 | 2 | - | - |
ZNF8 | - | - | - | - | 1 | Loss | - |
ZNF80 | p.R234Q | Missense | SNP | 0.271 | 3 | Gain | - |
ZNF800 | - | - | - | - | 3 | Gain | - |
ZNF804B | - | - | - | - | 3 | Gain | - |
ZNF805 | - | - | - | - | 1 | Loss | - |
ZNF808 | - | - | - | - | 1 | Loss | - |
ZNF813 | - | - | - | - | 1 | Loss | - |
ZNF814 | - | - | - | - | 1 | Loss | - |
ZNF816 | - | - | - | - | 1 | Loss | - |
ZNF816-ZNF321P | - | - | - | - | 1 | Loss | - |
ZNF83 | - | - | - | - | 1 | Loss | - |
ZNF836 | - | - | - | - | 1 | Loss | - |
ZNF837 | - | - | - | - | 1 | Loss | - |
ZNF841 | - | - | - | - | 1 | Loss | - |
ZNF845 | - | - | - | - | 1 | Loss | - |
ZNF85 | - | - | - | - | 1 | Loss | - |
ZNF852 | - | - | - | - | 1 | Loss | - |
ZNF853 | - | - | - | - | 3 | Gain | - |
ZNF860 | p.H364Y | Missense | SNP | 0.718 | 1 | Loss | - |
ZNF862 | - | - | - | - | 3 | Gain | - |
ZNF879 | - | - | - | - | 1 | Loss | - |
ZNF880 | - | - | - | - | 1 | Loss | - |
ZNF883 | - | - | - | - | 3 | Gain | - |
ZNF888 | - | - | - | - | 1 | Loss | - |
ZNF90 | p.G132E | Missense | SNP | 0.217 | 1 | Loss | - |
ZNF91 | - | - | - | - | 1 | Loss | - |
ZNF92 | - | - | - | - | 3 | Gain | - |
ZNF93 | - | - | - | - | 1 | Loss | - |
ZNF98 | p.E118K | Missense | SNP | 0.351 | 1 | Loss | - |
ZNF99 | p.P508L p.H335Y | Missense Missense | SNP SNP | 0.300 0.765 | 1 | Loss | - |
ZNHIT1 | - | - | - | - | 3 | Gain | - |
ZNRF2 | - | - | - | - | 3 | Gain | - |
ZNRF4 | - | - | - | - | 1 | Loss | - |
ZP3 | - | - | - | - | 3 | Gain | - |
ZPBP | - | - | - | - | 3 | Gain | - |
ZPLD1 | - | - | - | - | 3 | Gain | - |
ZSCAN1 | - | - | - | - | 1 | Loss | - |
ZSCAN18 | - | - | - | - | 1 | Loss | - |
ZSCAN20 | p.P502L | Missense | SNP | 0.556 | 2 | - | - |
ZSCAN21 | - | - | - | - | 3 | Gain | - |
ZSCAN22 | p.S238F | Missense | SNP | 0.690 | 1 | Loss | - |
ZSCAN25 | - | - | - | - | 3 | Gain | - |
ZSCAN4 | - | - | - | - | 1 | Loss | - |
ZSWIM2 | p.S504L | Missense | SNP | 0.474 | 2 | - | - |
ZSWIM3 | p.P299S | Missense | SNP | 0.614 | 2 | - | - |
ZSWIM7 | - | - | - | - | 1 | Loss | - |
ZSWIM9 | - | - | - | - | 1 | Loss | - |
ZXDC | p.G734R | Missense | SNP | 0.684 | 3 | Gain | - |
ZYX | - | - | - | - | 3 | Gain | - |
ZZEF1 | p.H2928Y | Missense | SNP | 0.588 | 1 | Loss | - |