Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A1CF | - | - | - | - | 1 | Loss | - |
A2M | p.D1441N | Missense | SNP | 0.343 | 2 | - | - |
A4GALT | - | - | - | - | 3 | Gain | - |
A4GNT | - | - | - | - | 3 | Gain | - |
AADAC | p.N298T | Missense | SNP | 0.230 | 3 | Gain | - |
AADACL2 | - | - | - | - | 3 | Gain | - |
AADACL3 | p.G123S | Missense | SNP | 0.700 | 2 | - | - |
AAGAB | - | - | - | - | 3 | Gain | - |
AARD | - | - | - | - | 3 | Gain | - |
AARS | - | - | - | - | 1 | Loss | - |
AASS | - | - | - | - | 3 | Gain | - |
ABCA1 | p.P1546S | Missense | SNP | 0.265 | 2 | - | - |
ABCA10 | p.P864L | Missense | SNP | 0.550 | 2 | - | - |
ABCA12 | p.E2209K p.R1960Q p.Q223* | Missense Missense Nonsense | SNP SNP SNP | 0.451 0.195 0.281 | 2 | - | - |
ABCA13 | p.A4131V | Missense | SNP | 0.328 | 3 | Gain | - |
ABCA3 | p.P72L | Missense | SNP | 0.223 | 2 | - | - |
ABCA4 | - | - | - | - | 3 | Gain | - |
ABCB1 | p.G763R | Missense | SNP | 0.297 | 3 | Gain | - |
ABCB10 | - | - | - | - | 3 | Gain | - |
ABCB4 | - | - | - | - | 3 | Gain | - |
ABCB5 | - | - | - | - | 3 | Gain | - |
ABCB8 | - | - | - | - | 3 | Gain | - |
ABCC11 | - | - | - | - | 1 | Loss | - |
ABCC12 | - | - | - | - | 1 | Loss | - |
ABCC4 | p.G1053D | Missense | SNP | 0.231 | 2 | - | - |
ABCC5 | - | - | - | - | 3 | Gain | - |
ABCC8 | p.S348F | Missense | SNP | 0.337 | 2 | - | - |
ABCD3 | - | - | - | - | 3 | Gain | - |
ABCF2 | - | - | - | - | 3 | Gain | - |
ABCF3 | - | - | - | - | 3 | Gain | - |
ABCG2 | - | - | - | - | 1 | Loss | - |
ABCG4 | p.S69F | Missense | SNP | 0.332 | 2 | - | - |
ABHD10 | - | - | - | - | 3 | Gain | - |
ABHD11 | - | - | - | - | 3 | Gain | - |
ABHD17C | - | - | - | - | 3 | Gain | - |
ABHD2 | - | - | - | - | 3 | Gain | - |
ABI1 | - | - | - | - | 1 | Loss | - |
ABI3BP | - | - | - | - | 3 | Gain | - |
ABL1 | p.P872L | Missense | SNP | 0.950 | 2 | - | - |
ABL2 | - | - | - | - | 3 | Gain | - |
ABLIM3 | p.P11S | Missense | SNP | 0.347 | 2 | - | - |
ABRA | - | - | - | - | 3 | Gain | - |
ABRAXAS1 | - | - | - | - | 1 | Loss | - |
ABTB1 | - | - | - | - | 3 | Gain | - |
AC000120.2 | - | - | - | - | 3 | Gain | - |
AC000120.3 | - | - | - | - | 3 | Gain | - |
AC004080.3 | - | - | - | - | 3 | Gain | - |
AC004593.3 | - | - | - | - | 3 | Gain | - |
AC004691.2 | - | - | - | - | 3 | Gain | - |
AC004832.3 | - | - | - | - | 3 | Gain | - |
AC004922.1 | - | - | - | - | 3 | Gain | - |
AC004997.1 | - | - | - | - | 3 | Gain | - |
AC005020.2 | - | - | - | - | 3 | Gain | - |
AC005154.5 | - | - | - | - | 3 | Gain | - |
AC006978.2 | - | - | - | - | 3 | Gain | - |
AC007326.4 | - | - | - | - | 3 | Gain | - |
AC007731.5 | - | - | - | - | 3 | Gain | - |
AC008481.3 | - | - | - | - | 3 | Gain | - |
AC009119.2 | - | - | - | - | 1 | Loss | - |
AC009163.2 | - | - | - | - | 1 | Loss | - |
AC009163.4 | - | - | - | - | 1 | Loss | - |
AC009690.1 | - | - | - | - | 3 | Gain | - |
AC009690.3 | - | - | - | - | 3 | Gain | - |
AC009879.2 | - | - | - | - | 3 | Gain | - |
AC009879.3 | - | - | - | - | 3 | Gain | - |
AC010132.3 | - | - | - | - | 3 | Gain | - |
AC010531.1 | - | - | - | - | 1 | Loss | - |
AC010542.3 | - | - | - | - | 1 | Loss | - |
AC010547.4 | - | - | - | - | 1 | Loss | - |
AC011005.1 | - | - | - | - | 3 | Gain | - |
AC011330.3 | - | - | - | - | 0 | Del | - |
AC011511.1 | - | - | - | - | 3 | Gain | - |
AC011511.4 | - | - | - | - | 3 | Gain | - |
AC012184.2 | - | - | - | - | 1 | Loss | - |
AC012213.5 | - | - | - | - | 3 | Gain | - |
AC012476.1 | - | - | - | - | 1 | Loss | - |
AC012651.1 | - | - | - | - | 1 | Loss | - |
AC013394.1 | - | - | - | - | 3 | Gain | - |
AC013489.1 | - | - | - | - | 3 | Gain | - |
AC018362.3 | - | - | - | - | 1 | Loss | - |
AC018512.1 | - | - | - | - | 1 | Loss | - |
AC018554.3 | - | - | - | - | 1 | Loss | - |
AC019117.2 | - | - | - | - | 3 | Gain | - |
AC020636.2 | - | - | - | - | 3 | Gain | - |
AC021097.2 | - | - | - | - | 3 | Gain | - |
AC021097.3 | - | - | - | - | 3 | Gain | - |
AC021660.3 | - | - | - | - | 3 | Gain | - |
AC022826.2 | - | - | - | - | 3 | Gain | - |
AC025287.4 | - | - | - | - | 1 | Loss | - |
AC026316.5 | - | - | - | - | 3 | Gain | - |
AC026464.1 | - | - | - | - | 1 | Loss | - |
AC026464.3 | - | - | - | - | 1 | Loss | - |
AC026464.4 | - | - | - | - | 1 | Loss | - |
AC026464.6 | - | - | - | - | 1 | Loss | - |
AC027644.4 | - | - | - | - | 3 | Gain | - |
AC036214.3 | - | - | - | - | 3 | Gain | - |
AC040162.1 | - | - | - | - | 1 | Loss | - |
AC068533.4 | - | - | - | - | 3 | Gain | - |
AC068631.2 | - | - | - | - | 3 | Gain | - |
AC068831.7 | - | - | - | - | 3 | Gain | - |
AC069257.3 | - | - | - | - | 3 | Gain | - |
AC069368.1 | - | - | - | - | 3 | Gain | - |
AC069444.2 | - | - | - | - | 3 | Gain | - |
AC073111.3 | - | - | - | - | 3 | Gain | - |
AC073111.5 | - | - | - | - | 3 | Gain | - |
AC074143.1 | - | - | - | - | 1 | Loss | - |
AC079594.2 | - | - | - | - | 3 | Gain | - |
AC083800.1 | - | - | - | - | 3 | Gain | - |
AC087632.1 | - | - | - | - | 3 | Gain | - |
AC087721.2 | - | - | - | - | 1 | Loss | - |
AC090517.4 | - | - | - | - | 3 | Gain | - |
AC090527.2 | - | - | - | - | 1 | Loss | - |
AC091167.2 | - | - | - | - | 3 | Gain | - |
AC091167.6 | - | - | - | - | 3 | Gain | - |
AC091167.7 | - | - | - | - | 3 | Gain | - |
AC092017.3 | - | - | - | - | 3 | Gain | - |
AC092143.1 | - | - | - | - | 1 | Loss | - |
AC092647.5 | - | - | - | - | 3 | Gain | - |
AC092718.3 | - | - | - | - | 1 | Loss | - |
AC092718.8 | - | - | - | - | 1 | Loss | - |
AC093155.3 | - | - | - | - | 3 | Gain | - |
AC093423.3 | - | - | - | - | 3 | Gain | - |
AC093668.1 | - | - | - | - | 3 | Gain | - |
AC093668.2 | - | - | - | - | 3 | Gain | - |
AC093668.3 | - | - | - | - | 3 | Gain | - |
AC093827.5 | - | - | - | - | 1 | Loss | - |
AC097634.4 | - | - | - | - | 3 | Gain | - |
AC098582.1 | - | - | - | - | 1 | Loss | - |
AC104151.1 | - | - | - | - | 1 | Loss | - |
AC104472.3 | - | - | - | - | 3 | Gain | - |
AC105052.1 | - | - | - | - | 3 | Gain | - |
AC105052.3 | - | - | - | - | 3 | Gain | - |
AC107871.1 | - | - | - | - | 3 | Gain | - |
AC112128.1 | - | - | - | - | 3 | Gain | - |
AC112504.2 | - | - | - | - | 3 | Gain | - |
AC117457.1 | - | - | - | - | 3 | Gain | - |
AC118470.1 | - | - | - | - | 3 | Gain | - |
AC118549.1 | - | - | - | - | 3 | Gain | - |
AC118553.2 | - | - | - | - | 3 | Gain | - |
AC126283.2 | - | - | - | - | 1 | Loss | - |
AC131160.1 | - | - | - | - | 3 | Gain | - |
AC187653.1 | - | - | - | - | 3 | Gain | - |
AC245033.1 | - | - | - | - | 3 | Gain | - |
AC253536.7 | - | - | - | - | 3 | Gain | - |
ACAD11 | - | - | - | - | 3 | Gain | - |
ACAD9 | p.S474F | Missense | SNP | 0.541 | 3 | Gain | - |
ACADM | - | - | - | - | 3 | Gain | - |
ACAN | p.P228S | Missense | SNP | 0.220 | 3 | Gain | - |
ACAP2 | - | - | - | - | 3 | Gain | - |
ACBD3 | - | - | - | - | 3 | Gain | - |
ACBD5 | - | - | - | - | 1 | Loss | - |
ACBD6 | - | - | - | - | 3 | Gain | - |
ACBD7 | - | - | - | - | 1 | Loss | - |
ACD | - | - | - | - | 1 | Loss | - |
ACER2 | - | - | - | - | 0 | Del | - |
ACHE | - | - | - | - | 3 | Gain | - |
ACKR1 | - | - | - | - | 3 | Gain | - |
ACKR4 | - | - | - | - | 3 | Gain | - |
ACO1 | - | - | - | - | 0 | Del | - |
ACO2 | - | - | - | - | 3 | Gain | - |
ACP5 | - | - | - | - | 3 | Gain | - |
ACPP | - | - | - | - | 3 | Gain | - |
ACRV1 | p.G166D | Missense | SNP | 0.346 | 2 | - | - |
ACSBG1 | - | - | - | - | 3 | Gain | - |
ACSF3 | - | - | - | - | 1 | Loss | - |
ACSM1 | p.V489M | Missense | DNP | 0.362 | 2 | - | - |
ACSM2A | p.S202F p.P403L | Missense Missense | SNP SNP | 0.439 0.253 | 2 | - | - |
ACSM5 | p.V503I | Missense | SNP | 0.405 | 2 | - | - |
ACTA1 | - | - | - | - | 3 | Gain | - |
ACTB | - | - | - | - | 3 | Gain | - |
ACTBL2 | - | - | - | - | 3 | Gain | - |
ACTC1 | - | - | - | - | 1 | Loss | - |
ACTL6A | - | - | - | - | 3 | Gain | - |
ACTL6B | - | - | - | - | 3 | Gain | - |
ACTN2 | - | - | - | - | 3 | Gain | - |
ACTR3B | - | - | - | - | 3 | Gain | - |
ACTR3C | - | - | - | - | 3 | Gain | - |
ACTRT3 | - | - | - | - | 3 | Gain | - |
ADA2 | - | - | - | - | 3 | Gain | - |
ADAD1 | - | - | - | - | 1 | Loss | - |
ADAD2 | - | - | - | - | 1 | Loss | - |
ADAL | - | - | - | - | 1 | Loss | - |
ADAM10 | - | - | - | - | 3 | Gain | - |
ADAM15 | - | - | - | - | 3 | Gain | - |
ADAM2 | p.S440L | Missense | SNP | 0.289 | 2 | - | - |
ADAM20 | p.Q3* | Nonsense | SNP | 0.289 | 2 | - | - |
ADAM22 | - | - | - | - | 3 | Gain | - |
ADAM28 | p.E114K | Missense | SNP | 0.321 | 2 | - | - |
ADAMTS17 | - | - | - | - | 3 | Gain | - |
ADAMTS18 | - | - | - | - | 1 | Loss | - |
ADAMTS19 | p.G560E | Missense | SNP | 0.313 | 2 | - | - |
ADAMTS20 | p.E23K | Missense | SNP | 0.603 | 2 | - | - |
ADAMTS4 | - | - | - | - | 3 | Gain | - |
ADAMTS5 | p.E357K | Missense | SNP | 0.555 | 2 | - | - |
ADAMTS7 | - | - | - | - | 3 | Gain | - |
ADAMTS9 | p.S1825F p.L1609V | Missense Missense | SNP SNP | 0.500 0.462 | 3 | Gain | - |
ADAMTSL1 | - | - | - | - | 0 | Del | - |
ADAMTSL3 | - | - | - | - | 3 | Gain | - |
ADAP1 | - | - | - | - | 3 | Gain | - |
ADAR | - | - | - | - | 3 | Gain | - |
ADARB2 | - | - | - | - | 1 | Loss | - |
ADAT1 | - | - | - | - | 1 | Loss | - |
ADCK2 | - | - | - | - | 3 | Gain | - |
ADCY1 | - | - | - | - | 3 | Gain | - |
ADCY10 | - | - | - | - | 3 | Gain | - |
ADCY5 | - | - | - | - | 3 | Gain | - |
ADCY7 | - | - | - | - | 1 | Loss | - |
ADCYAP1R1 | - | - | - | - | 3 | Gain | - |
ADD1 | p.P413S | Missense | SNP | 0.202 | 2 | - | - |
ADGRB1 | p.G297S | Missense | SNP | 0.552 | 2 | - | - |
ADGRE1 | p.S218L | Missense | SNP | 0.273 | 2 | - | - |
ADGRE3 | p.G229R | Missense | SNP | 0.470 | 2 | - | - |
ADGRE5 | p.G436S | Missense | SNP | 0.225 | 2 | - | - |
ADGRG1 | - | - | - | - | 1 | Loss | - |
ADGRG3 | - | - | - | - | 1 | Loss | - |
ADGRG5 | - | - | - | - | 1 | Loss | - |
ADGRG7 | - | - | - | - | 3 | Gain | - |
ADGRL2 | p.E1081K p.H1168Y | Missense Missense | SNP SNP | 0.218 0.622 | 3 | Gain | - |
ADGRL4 | p.V666A | Missense | SNP | 0.677 | 3 | Gain | - |
ADGRV1 | p.G8E p.E230K p.S3561L | Missense Missense Missense | SNP SNP SNP | 0.254 0.333 0.374 | 2 | - | - |
ADH1A | - | - | - | - | 1 | Loss | - |
ADH1B | - | - | - | - | 1 | Loss | - |
ADH1C | - | - | - | - | 1 | Loss | - |
ADH4 | - | - | - | - | 1 | Loss | - |
ADH5 | - | - | - | - | 1 | Loss | - |
ADH6 | - | - | - | - | 1 | Loss | - |
ADH7 | - | - | - | - | 1 | Loss | - |
ADHFE1 | - | - | - | - | 3 | Gain | - |
ADIPOQ | - | - | - | - | 3 | Gain | - |
ADIPOR1 | - | - | - | - | 3 | Gain | - |
ADORA1 | - | - | - | - | 3 | Gain | - |
ADORA2A | - | - | - | - | 3 | Gain | - |
ADPGK | - | - | - | - | 3 | Gain | - |
ADPRH | - | - | - | - | 3 | Gain | - |
ADSL | - | - | - | - | 3 | Gain | - |
ADSS | - | - | - | - | 3 | Gain | - |
AEBP1 | - | - | - | - | 3 | Gain | - |
AEN | - | - | - | - | 3 | Gain | - |
AES | p.P219L | Missense | SNP | 0.220 | 2 | - | - |
AFF1 | - | - | - | - | 1 | Loss | - |
AFMID | p.D82N | Missense | SNP | 0.423 | 2 | - | - |
AGAP3 | - | - | - | - | 3 | Gain | - |
AGBL1 | p.P434S | Missense | SNP | 0.398 | 3 | Gain | - |
AGBL2 | p.R319C | Missense | SNP | 0.280 | 2 | - | - |
AGBL3 | - | - | - | - | 3 | Gain | - |
AGFG2 | - | - | - | - | 3 | Gain | - |
AGK | - | - | - | - | 3 | Gain | - |
AGL | - | - | - | - | 3 | Gain | - |
AGMO | - | - | - | - | 3 | Gain | - |
AGR2 | - | - | - | - | 3 | Gain | - |
AGR3 | - | - | - | - | 3 | Gain | - |
AGRP | - | - | - | - | 1 | Loss | - |
AGT | - | - | - | - | 3 | Gain | - |
AGTR1 | - | - | - | - | 3 | Gain | - |
AGTRAP | p.R57* | Nonsense | SNP | 0.695 | 2 | - | - |
AHCTF1 | - | - | - | - | 3 | Gain | - |
AHCYL2 | - | - | - | - | 3 | Gain | - |
AHNAK | p.V4219I | Missense | SNP | 0.324 | 2 | - | - |
AHNAK2 | p.P907L | Missense | SNP | 0.302 | 2 | - | - |
AHR | - | - | - | - | 3 | Gain | - |
AHSG | - | - | - | - | 3 | Gain | - |
AIDA | - | - | - | - | 3 | Gain | - |
AIFM2 | p.P101L | Missense | SNP | 0.381 | 2 | - | - |
AIFM3 | - | - | - | - | 3 | Gain | - |
AIM1 | p.P746S | Missense | SNP | 0.306 | ND | ND | - |
AIM2 | - | - | - | - | 3 | Gain | - |
AIMP1 | - | - | - | - | 1 | Loss | - |
AIMP2 | - | - | - | - | 3 | Gain | - |
AK3 | - | - | - | - | 0 | Del | - |
AK4 | - | - | - | - | 3 | Gain | - |
AK5 | p.P85L | Missense | SNP | 0.687 | 3 | Gain | - |
AKAP11 | p.L1170F | Missense | SNP | 0.594 | 2 | - | - |
AKAP13 | - | - | - | - | 3 | Gain | - |
AKAP6 | p.S701F p.S1508L | Missense Missense | SNP SNP | 0.298 0.224 | 2 | - | - |
AKAP9 | p.E679K | Missense | SNP | 0.377 | 3 | Gain | - |
AKR1B1 | - | - | - | - | 3 | Gain | - |
AKR1B10 | - | - | - | - | 3 | Gain | - |
AKR1B15 | - | - | - | - | 3 | Gain | - |
AKR1C1 | - | - | - | - | 1 | Loss | - |
AKR1C2 | - | - | - | - | 1 | Loss | - |
AKR1C3 | - | - | - | - | 1 | Loss | - |
AKR1C4 | - | - | - | - | 1 | Loss | - |
AKR1C8P | - | - | - | - | 1 | Loss | - |
AKR1D1 | - | - | - | - | 3 | Gain | - |
AKR1E2 | - | - | - | - | 1 | Loss | - |
AKT3 | - | - | - | - | 3 | Gain | - |
AKTIP | - | - | - | - | 1 | Loss | - |
AL022238.4 | - | - | - | - | 3 | Gain | - |
AL022318.4 | - | - | - | - | 3 | Gain | - |
AL117339.5 | - | - | - | - | 1 | Loss | - |
AL117348.2 | - | - | - | - | 3 | Gain | - |
AL139011.2 | - | - | - | - | 3 | Gain | - |
AL139142.2 | - | - | - | - | 3 | Gain | - |
AL157392.5 | - | - | - | - | 1 | Loss | - |
AL358472.6 | - | - | - | - | 3 | Gain | - |
AL358472.7 | - | - | - | - | 3 | Gain | - |
AL359922.1 | - | - | - | - | 0 | Del | - |
AL512785.2 | - | - | - | - | 3 | Gain | - |
AL590132.1 | - | - | - | - | 3 | Gain | - |
AL591806.3 | - | - | - | - | 3 | Gain | - |
AL691442.1 | - | - | - | - | 3 | Gain | - |
AL713999.1 | - | - | - | - | 3 | Gain | - |
ALCAM | - | - | - | - | 3 | Gain | - |
ALDH1A2 | - | - | - | - | 3 | Gain | - |
ALDH1A3 | - | - | - | - | 3 | Gain | - |
ALDH1L1 | - | - | - | - | 3 | Gain | - |
ALDH9A1 | - | - | - | - | 3 | Gain | - |
ALG12 | - | - | - | - | 3 | Gain | - |
ALG14 | p.R27C | Missense | SNP | 0.254 | 3 | Gain | - |
ALG1L | - | - | - | - | 3 | Gain | - |
ALG1L2 | - | - | - | - | 3 | Gain | - |
ALG3 | - | - | - | - | 3 | Gain | - |
ALG6 | - | - | - | - | 3 | Gain | - |
ALKBH4 | - | - | - | - | 3 | Gain | - |
ALMS1 | p.Y2095F | Missense | SNP | 0.218 | 2 | - | - |
ALOX12 | p.W208* | Nonsense | SNP | 0.565 | 2 | - | - |
ALOX5 | - | - | - | - | 1 | Loss | - |
ALPK1 | - | - | - | - | 1 | Loss | - |
ALPK3 | - | - | - | - | 3 | Gain | - |
ALS2CR11 | p.P814S | Missense | SNP | 0.410 | ND | ND | - |
ALX3 | p.P42S | Missense | SNP | 0.571 | 2 | - | - |
AMFR | - | - | - | - | 1 | Loss | - |
AMOTL2 | - | - | - | - | 3 | Gain | - |
AMPH | - | - | - | - | 3 | Gain | - |
AMY2A | - | - | - | - | 3 | Gain | - |
AMY2B | - | - | - | - | 3 | Gain | - |
AMZ1 | - | - | - | - | 3 | Gain | - |
ANAPC13 | - | - | - | - | 3 | Gain | - |
ANAPC2 | p.D360N | Missense | SNP | 0.370 | 2 | - | - |
ANGEL2 | - | - | - | - | 3 | Gain | - |
ANGPT1 | - | - | - | - | 3 | Gain | - |
ANGPTL1 | - | - | - | - | 3 | Gain | - |
ANGPTL3 | - | - | - | - | 3 | Gain | - |
ANGPTL6 | - | - | - | - | 3 | Gain | - |
ANGPTL8 | - | - | - | - | 3 | Gain | - |
ANHX | p.W98* | Nonsense | SNP | 0.477 | 2 | - | - |
ANK2 | - | - | - | - | 1 | Loss | - |
ANK3 | - | - | - | - | 1 | Loss | - |
ANKDD1A | p.L95F | Missense | SNP | 0.445 | 3 | Gain | - |
ANKH | p.R384K | Missense | SNP | 0.213 | 2 | - | - |
ANKIB1 | - | - | - | - | 4 | Gain | - |
ANKMY2 | - | - | - | - | 3 | Gain | - |
ANKRD11 | - | - | - | - | 1 | Loss | - |
ANKRD13C | - | - | - | - | 3 | Gain | - |
ANKRD16 | - | - | - | - | 1 | Loss | - |
ANKRD18A | - | - | - | - | 1 | Loss | - |
ANKRD18B | - | - | - | - | 0 | Del | - |
ANKRD20A2 | - | - | - | - | 1 | Loss | - |
ANKRD26 | - | - | - | - | 1 | Loss | - |
ANKRD30A | - | - | - | - | 1 | Loss | - |
ANKRD34C | - | - | - | - | 3 | Gain | - |
ANKRD45 | - | - | - | - | 3 | Gain | - |
ANKRD46 | - | - | - | - | 3 | Gain | - |
ANKRD54 | - | - | - | - | 3 | Gain | - |
ANKRD55 | - | - | - | - | 3 | Gain | - |
ANKRD61 | - | - | - | - | 3 | Gain | - |
ANKRD63 | - | - | - | - | 1 | Loss | - |
ANKRD7 | - | - | - | - | 3 | Gain | - |
ANKUB1 | - | - | - | - | 3 | Gain | - |
ANLN | - | - | - | - | 3 | Gain | - |
ANO10 | p.P452S | Missense | SNP | 0.452 | 2 | - | - |
ANO6 | p.S42F | Missense | SNP | 0.358 | 2 | - | - |
ANP32A | - | - | - | - | 3 | Gain | - |
ANPEP | - | - | - | - | 3 | Gain | - |
ANTXR2 | - | - | - | - | 1 | Loss | - |
ANTXRL | - | - | - | - | 1 | Loss | - |
ANXA2 | - | - | - | - | 3 | Gain | - |
ANXA2R | - | - | - | - | 3 | Gain | - |
ANXA3 | - | - | - | - | 1 | Loss | - |
ANXA5 | - | - | - | - | 1 | Loss | - |
ANXA8 | - | - | - | - | 1 | Loss | - |
ANXA8L1 | - | - | - | - | 1 | Loss | - |
AOAH | - | - | - | - | 3 | Gain | - |
AOC1 | - | - | - | - | 3 | Gain | - |
AOX1 | p.E451K | Missense | SNP | 0.234 | 2 | - | - |
AP000350.4 | - | - | - | - | 3 | Gain | - |
AP1AR | - | - | - | - | 1 | Loss | - |
AP1B1 | - | - | - | - | 3 | Gain | - |
AP1G1 | - | - | - | - | 1 | Loss | - |
AP1G2 | - | - | - | - | 1 | Loss | - |
AP1M2 | - | - | - | - | 3 | Gain | - |
AP1S1 | - | - | - | - | 3 | Gain | - |
AP2M1 | - | - | - | - | 3 | Gain | - |
AP3B2 | p.D784N p.X258_splice | Missense Splice_Site | SNP SNP | 0.212 0.290 | 3 | Gain | - |
AP3S2 | - | - | - | - | 3 | Gain | - |
AP4E1 | - | - | - | - | 1 | Loss | - |
AP4M1 | - | - | - | - | 3 | Gain | - |
AP5Z1 | p.S318F | Missense | SNP | 0.196 | 3 | Gain | - |
APBB1IP | - | - | - | - | 1 | Loss | - |
APC2 | p.E1014K | Missense | SNP | 0.224 | 2 | - | - |
APCS | - | - | - | - | 3 | Gain | - |
APH1B | - | - | - | - | 3 | Gain | - |
APOA2 | - | - | - | - | 3 | Gain | - |
APOA5 | p.R143H | Missense | SNP | 0.659 | 2 | - | - |
APOB | p.S3592P p.K2930N p.D2730N | Missense Missense Missense | SNP SNP SNP | 0.214 0.241 0.157 | 2 | - | - |
APOBEC3A | - | - | - | - | 3 | Gain | - |
APOBEC3B | - | - | - | - | 3 | Gain | - |
APOBEC3C | - | - | - | - | 3 | Gain | - |
APOBEC3D | - | - | - | - | 3 | Gain | - |
APOBEC3F | - | - | - | - | 3 | Gain | - |
APOBEC3G | - | - | - | - | 3 | Gain | - |
APOBEC3H | - | - | - | - | 3 | Gain | - |
APOBEC4 | - | - | - | - | 3 | Gain | - |
APOBR | p.G635E | Missense | SNP | 0.451 | 2 | - | - |
APOD | - | - | - | - | 3 | Gain | - |
APOL1 | - | - | - | - | 3 | Gain | - |
APOL2 | - | - | - | - | 3 | Gain | - |
APOL3 | - | - | - | - | 3 | Gain | - |
APOL4 | - | - | - | - | 3 | Gain | - |
APOL5 | - | - | - | - | 3 | Gain | - |
APOL6 | - | - | - | - | 3 | Gain | - |
APP | p.R747C | Missense | SNP | 0.354 | 2 | - | - |
APRT | - | - | - | - | 1 | Loss | - |
APTX | - | - | - | - | 0 | Del | - |
AQP1 | - | - | - | - | 3 | Gain | - |
AQP10 | - | - | - | - | 3 | Gain | - |
AQP3 | - | - | - | - | 0 | Del | - |
AQP7 | - | - | - | - | 0 | Del | - |
AQP9 | - | - | - | - | 3 | Gain | - |
AQR | - | - | - | - | 1 | Loss | - |
ARF1 | - | - | - | - | 3 | Gain | - |
ARF5 | - | - | - | - | 3 | Gain | - |
ARFGAP3 | - | - | - | - | 3 | Gain | - |
ARFGEF1 | - | - | - | - | 3 | Gain | - |
ARFIP1 | - | - | - | - | 1 | Loss | - |
ARGFX | - | - | - | - | 3 | Gain | - |
ARHGAP11A | - | - | - | - | 1 | Loss | - |
ARHGAP12 | - | - | - | - | 1 | Loss | - |
ARHGAP21 | - | - | - | - | 1 | Loss | - |
ARHGAP22 | - | - | - | - | 1 | Loss | - |
ARHGAP24 | - | - | - | - | 1 | Loss | - |
ARHGAP26 | p.S353L | Missense | SNP | 0.327 | 2 | - | - |
ARHGAP29 | p.N405Y | Missense | SNP | 0.746 | 3 | Gain | - |
ARHGAP30 | - | - | - | - | 3 | Gain | - |
ARHGAP31 | p.P608S | Missense | SNP | 0.488 | 3 | Gain | - |
ARHGAP8 | - | - | - | - | 3 | Gain | - |
ARHGEF11 | - | - | - | - | 3 | Gain | - |
ARHGEF15 | p.P78L | Missense | SNP | 0.367 | 2 | - | - |
ARHGEF2 | - | - | - | - | 3 | Gain | - |
ARHGEF26 | - | - | - | - | 3 | Gain | - |
ARHGEF38 | - | - | - | - | 1 | Loss | - |
ARID1A | p.S1091C p.Q1200* | Missense Nonsense | SNP SNP | 0.190 0.714 | 2 | - | - |
ARID3B | - | - | - | - | 3 | Gain | - |
ARID4B | - | - | - | - | 3 | Gain | - |
ARIH1 | - | - | - | - | 3 | Gain | - |
ARL13B | - | - | - | - | 3 | Gain | - |
ARL14 | - | - | - | - | 3 | Gain | - |
ARL15 | - | - | - | - | 3 | Gain | - |
ARL2BP | - | - | - | - | 1 | Loss | - |
ARL4A | - | - | - | - | 3 | Gain | - |
ARL5B | - | - | - | - | 1 | Loss | - |
ARL6 | - | - | - | - | 3 | Gain | - |
ARL6IP5 | - | - | - | - | 3 | Gain | - |
ARL8A | - | - | - | - | 3 | Gain | - |
ARMC1 | - | - | - | - | 3 | Gain | - |
ARMC10 | - | - | - | - | 3 | Gain | - |
ARMC3 | - | - | - | - | 1 | Loss | - |
ARMC4 | - | - | - | - | 1 | Loss | - |
ARMC8 | - | - | - | - | 3 | Gain | - |
ARMCX4 | p.P1390L | Missense | SNP | 0.449 | ND | ND | - |
ARNT2 | - | - | - | - | 3 | Gain | - |
ARPC1A | - | - | - | - | 3 | Gain | - |
ARPC1B | - | - | - | - | 3 | Gain | - |
ARPC5 | - | - | - | - | 3 | Gain | - |
ARPIN | - | - | - | - | 3 | Gain | - |
ARPP19 | - | - | - | - | 1 | Loss | - |
ARPP21 | p.S76F p.K127* | Missense Nonsense | SNP SNP | 0.333 0.506 | 2 | - | - |
ARRDC4 | p.Q234L | Missense | SNP | 0.441 | 3 | Gain | - |
ARSB | p.P523S | Missense | SNP | 0.758 | 2 | - | - |
ARSF | p.A184V | Missense | SNP | 0.943 | ND | ND | - |
ARSJ | - | - | - | - | 1 | Loss | - |
ART1 | p.G237E | Missense | SNP | 0.644 | 2 | - | - |
ART3 | - | - | - | - | 1 | Loss | - |
ARV1 | - | - | - | - | 3 | Gain | - |
ARVCF | - | - | - | - | 3 | Gain | - |
ASAH2 | - | - | - | - | 1 | Loss | - |
ASAH2B | - | - | - | - | 1 | Loss | - |
ASAP3 | p.P811S p.P127L | Missense Missense | SNP SNP | 0.292 0.157 | 2 | - | - |
ASB10 | - | - | - | - | 3 | Gain | - |
ASB13 | - | - | - | - | 1 | Loss | - |
ASB15 | - | - | - | - | 3 | Gain | - |
ASB17 | - | - | - | - | 3 | Gain | - |
ASB4 | - | - | - | - | 3 | Gain | - |
ASB7 | - | - | - | - | 3 | Gain | - |
ASCC2 | - | - | - | - | 3 | Gain | - |
ASCC3 | p.H1336Y | Missense | SNP | 0.316 | 2 | - | - |
ASH1L | - | - | - | - | 3 | Gain | - |
ASIC3 | - | - | - | - | 3 | Gain | - |
ASL | - | - | - | - | 3 | Gain | - |
ASNA1 | p.S231T | Missense | SNP | 0.473 | 2 | - | - |
ASNS | - | - | - | - | 3 | Gain | - |
ASPDH | p.G279E | Missense | SNP | 0.254 | 2 | - | - |
ASPH | - | - | - | - | 3 | Gain | - |
ASPHD2 | - | - | - | - | 3 | Gain | - |
ASPM | - | - | - | - | 3 | Gain | - |
ASTE1 | - | - | - | - | 3 | Gain | - |
ASTN1 | p.E502K | Missense | SNP | 0.404 | 3 | Gain | - |
ASXL2 | p.P963S | Missense | SNP | 0.498 | 2 | - | - |
ASZ1 | - | - | - | - | 3 | Gain | - |
ATF3 | - | - | - | - | 3 | Gain | - |
ATF4 | - | - | - | - | 3 | Gain | - |
ATF6 | - | - | - | - | 3 | Gain | - |
ATF6B | p.P263S | Missense | SNP | 0.319 | 2 | - | - |
ATF7IP | p.S752T | Missense | SNP | 0.622 | 2 | - | - |
ATG3 | - | - | - | - | 3 | Gain | - |
ATG4C | - | - | - | - | 3 | Gain | - |
ATG4D | - | - | - | - | 3 | Gain | - |
ATG9B | - | - | - | - | 3 | Gain | - |
ATMIN | - | - | - | - | 1 | Loss | - |
ATOH1 | - | - | - | - | 1 | Loss | - |
ATP11B | - | - | - | - | 3 | Gain | - |
ATP13A3 | - | - | - | - | 3 | Gain | - |
ATP13A4 | - | - | - | - | 3 | Gain | - |
ATP13A5 | p.D397N | Missense | SNP | 0.500 | 3 | Gain | - |
ATP1A2 | - | - | - | - | 3 | Gain | - |
ATP1A4 | - | - | - | - | 3 | Gain | - |
ATP1B1 | - | - | - | - | 3 | Gain | - |
ATP1B3 | - | - | - | - | 3 | Gain | - |
ATP2B2 | p.R777Q | Missense | SNP | 0.496 | 2 | - | - |
ATP2B4 | p.P113S | Missense | SNP | 0.357 | 3 | Gain | - |
ATP2C1 | - | - | - | - | 3 | Gain | - |
ATP2C2 | - | - | - | - | 1 | Loss | - |
ATP4A | p.E902K | Missense | SNP | 0.261 | 2 | - | - |
ATP5F1C | - | - | - | - | 1 | Loss | - |
ATP5MF | - | - | - | - | 3 | Gain | - |
ATP5MF-PTCD1 | - | - | - | - | 3 | Gain | - |
ATP5MGL | - | - | - | - | 3 | Gain | - |
ATP6V0A4 | - | - | - | - | 3 | Gain | - |
ATP6V0D1 | - | - | - | - | 1 | Loss | - |
ATP6V0D2 | - | - | - | - | 3 | Gain | - |
ATP6V0E2 | - | - | - | - | 3 | Gain | - |
ATP6V1A | - | - | - | - | 3 | Gain | - |
ATP6V1C1 | - | - | - | - | 3 | Gain | - |
ATP6V1E1 | - | - | - | - | 3 | Gain | - |
ATP6V1E2 | p.E61K | Missense | SNP | 0.414 | 2 | - | - |
ATP6V1F | - | - | - | - | 3 | Gain | - |
ATP6V1FNB | - | - | - | - | 3 | Gain | - |
ATP6V1G3 | - | - | - | - | 3 | Gain | - |
ATP8B2 | - | - | - | - | 3 | Gain | - |
ATP8B4 | p.E587K | Missense | SNP | 0.882 | 1 | Loss | - |
ATR | - | - | - | - | 3 | Gain | - |
ATRN | p.Q1218* | Nonsense | DNP | 0.412 | 2 | - | - |
ATXN10 | - | - | - | - | 3 | Gain | - |
ATXN1L | - | - | - | - | 1 | Loss | - |
ATXN3L | p.L325H | Missense | SNP | 0.976 | ND | ND | - |
ATXN7 | p.P656L | Missense | DNP | 0.412 | 3 | Gain | - |
ATXN7L1 | - | - | - | - | 3 | Gain | - |
AUTS2 | - | - | - | - | 3 | Gain | - |
AVEN | - | - | - | - | 1 | Loss | - |
AVL9 | - | - | - | - | 3 | Gain | - |
AVPR1B | - | - | - | - | 3 | Gain | - |
AXDND1 | - | - | - | - | 3 | Gain | - |
AXIN2 | p.P710S | Missense | SNP | 0.262 | 2 | - | - |
AZGP1 | - | - | - | - | 3 | Gain | - |
AZIN1 | - | - | - | - | 3 | Gain | - |
B2M | - | - | - | - | 1 | Loss | - |
B3GALNT1 | - | - | - | - | 3 | Gain | - |
B3GALNT2 | - | - | - | - | 3 | Gain | - |
B3GALT1 | p.R199Q | Missense | SNP | 0.249 | 2 | - | - |
B3GALT2 | - | - | - | - | 3 | Gain | - |
B3GNT2 | p.E64K | Missense | SNP | 0.490 | 2 | - | - |
B3GNT5 | - | - | - | - | 3 | Gain | - |
B3GNT9 | - | - | - | - | 1 | Loss | - |
B4GALT1 | - | - | - | - | 0 | Del | - |
B4GALT3 | - | - | - | - | 3 | Gain | - |
B4GALT4 | - | - | - | - | 3 | Gain | - |
B4GALT6 | p.P104S | Missense | SNP | 0.201 | 2 | - | - |
BAALC | - | - | - | - | 3 | Gain | - |
BAG1 | - | - | - | - | 0 | Del | - |
BAHD1 | - | - | - | - | 1 | Loss | - |
BAIAP2L1 | - | - | - | - | 3 | Gain | - |
BAIAP2L2 | - | - | - | - | 3 | Gain | - |
BAMBI | - | - | - | - | 1 | Loss | - |
BANK1 | - | - | - | - | 1 | Loss | - |
BANP | - | - | - | - | 1 | Loss | - |
BAP1 | p.Q253* | Nonsense | SNP | 0.221 | 2 | - | - |
BARHL2 | - | - | - | - | 3 | Gain | - |
BATF3 | - | - | - | - | 3 | Gain | - |
BAZ1B | - | - | - | - | 3 | Gain | - |
BBS12 | - | - | - | - | 1 | Loss | - |
BBS2 | - | - | - | - | 1 | Loss | - |
BBS4 | - | - | - | - | 3 | Gain | - |
BBS7 | - | - | - | - | 1 | Loss | - |
BBS9 | - | - | - | - | 3 | Gain | - |
BBX | - | - | - | - | 3 | Gain | - |
BCAN | - | - | - | - | 3 | Gain | - |
BCAP29 | - | - | - | - | 3 | Gain | - |
BCAR1 | - | - | - | - | 1 | Loss | - |
BCAR3 | - | - | - | - | 3 | Gain | - |
BCHE | - | - | - | - | 3 | Gain | - |
BCL10 | - | - | - | - | 3 | Gain | - |
BCL2A1 | - | - | - | - | 3 | Gain | - |
BCL2L10 | - | - | - | - | 1 | Loss | - |
BCL2L13 | - | - | - | - | 3 | Gain | - |
BCL6 | - | - | - | - | 3 | Gain | - |
BCL7B | - | - | - | - | 3 | Gain | - |
BCO1 | - | - | - | - | 1 | Loss | - |
BCR | - | - | - | - | 3 | Gain | - |
BDH1 | - | - | - | - | 3 | Gain | - |
BDH2 | - | - | - | - | 1 | Loss | - |
BEAN1 | - | - | - | - | 1 | Loss | - |
BEND7 | - | - | - | - | 1 | Loss | - |
BET1 | - | - | - | - | 4 | Gain | - |
BFAR | p.T316I | Missense | SNP | 0.537 | 2 | - | - |
BFSP2 | - | - | - | - | 3 | Gain | - |
BGLAP | - | - | - | - | 3 | Gain | - |
BHLHA15 | - | - | - | - | 5 | Amp | - |
BHLHE22 | - | - | - | - | 3 | Gain | - |
BHMG1 | p.G215E | Missense | SNP | 0.209 | 2 | - | - |
BICC1 | - | - | - | - | 1 | Loss | - |
BID | - | - | - | - | 3 | Gain | - |
BIK | - | - | - | - | 3 | Gain | - |
BLM | - | - | - | - | 3 | Gain | - |
BLOC1S6 | - | - | - | - | 1 | Loss | - |
BLVRA | - | - | - | - | 3 | Gain | - |
BLZF1 | - | - | - | - | 3 | Gain | - |
BMF | - | - | - | - | 1 | Loss | - |
BMI1 | - | - | - | - | 1 | Loss | - |
BMP2K | - | - | - | - | 1 | Loss | - |
BMP3 | p.S83L | Missense | SNP | 0.962 | 1 | Loss | - |
BMPER | p.W417* | Nonsense | SNP | 0.440 | 3 | Gain | - |
BMPR1B | - | - | - | - | 1 | Loss | - |
BMS1 | - | - | - | - | 1 | Loss | - |
BMT2 | - | - | - | - | 3 | Gain | - |
BNC1 | p.P603L p.D462N | Missense Missense | SNP SNP | 0.463 0.219 | 3 | Gain | - |
BNC2 | - | - | - | - | 0 | Del | - |
BNIP2 | - | - | - | - | 3 | Gain | - |
BOC | - | - | - | - | 3 | Gain | - |
BOP1 | p.G712R | Missense | SNP | 0.331 | 2 | - | - |
BORCS8-MEF2B | p.S355F | Missense | SNP | 0.494 | 2 | - | - |
BPGM | - | - | - | - | 3 | Gain | - |
BPIFC | p.T377I | Missense | SNP | 0.475 | 3 | Gain | - |
BPNT1 | - | - | - | - | 3 | Gain | - |
BRAF | - | - | - | - | 3 | Gain | - |
BRAT1 | - | - | - | - | 3 | Gain | - |
BRD1 | - | - | - | - | 3 | Gain | - |
BRD7 | - | - | - | - | 1 | Loss | - |
BRDT | - | - | - | - | 3 | Gain | - |
BRI3 | - | - | - | - | 3 | Gain | - |
BRICD5 | p.R135Q | Missense | DNP | 0.535 | 2 | - | - |
BRINP2 | p.P611S | Missense | SNP | 0.813 | 3 | Gain | - |
BRINP3 | - | - | - | - | 3 | Gain | - |
BROX | - | - | - | - | 3 | Gain | - |
BRWD3 | p.S1284L | Missense | SNP | 0.450 | ND | ND | - |
BTBD1 | - | - | - | - | 3 | Gain | - |
BTBD8 | - | - | - | - | 3 | Gain | - |
BTG2 | - | - | - | - | 3 | Gain | - |
BTLA | - | - | - | - | 3 | Gain | - |
BTNL3 | p.G245S | Missense | SNP | 0.887 | 0 | Del | - |
BTNL9 | - | - | - | - | 1 | Loss | - |
BUB1B | p.P301S | Missense | SNP | 0.897 | 1 | Loss | - |
BUB1B-PAK6 | - | - | - | - | 1 | Loss | - |
BUD23 | - | - | - | - | 3 | Gain | - |
BUD31 | - | - | - | - | 3 | Gain | - |
BZW2 | p.R62C | Missense | SNP | 0.632 | 3 | Gain | - |
C10orf113 | - | - | - | - | 1 | Loss | - |
C10orf53 | - | - | - | - | 1 | Loss | - |
C10orf67 | - | - | - | - | 1 | Loss | - |
C10orf71 | - | - | - | - | 1 | Loss | - |
C11orf63 | p.P395S | Missense | SNP | 0.547 | ND | ND | - |
C11orf91 | p.P105L | Missense | SNP | 0.293 | 2 | - | - |
C12orf40 | p.E606K | Missense | SNP | 0.295 | 2 | - | - |
C14orf159 | p.P601S | Missense | SNP | 0.307 | ND | ND | - |
C15orf38-AP3S2 | - | - | - | - | 3 | Gain | - |
C15orf39 | - | - | - | - | 3 | Gain | - |
C15orf40 | - | - | - | - | 3 | Gain | - |
C15orf41 | - | - | - | - | 1 | Loss | - |
C15orf48 | - | - | - | - | 1 | Loss | - |
C15orf53 | - | - | - | - | 1 | Loss | - |
C15orf59 | p.P256L | Missense | SNP | 0.276 | ND | ND | - |
C15orf61 | - | - | - | - | 3 | Gain | - |
C15orf62 | - | - | - | - | 1 | Loss | - |
C15orf65 | - | - | - | - | 3 | Gain | - |
C16orf46 | - | - | - | - | 1 | Loss | - |
C16orf70 | - | - | - | - | 1 | Loss | - |
C16orf71 | p.P287L | Missense | SNP | 0.514 | 2 | - | - |
C16orf74 | - | - | - | - | 1 | Loss | - |
C16orf78 | - | - | - | - | 1 | Loss | - |
C16orf86 | - | - | - | - | 1 | Loss | - |
C16orf87 | - | - | - | - | 1 | Loss | - |
C16orf95 | - | - | - | - | 1 | Loss | - |
C19orf25 | p.P52L | Missense | SNP | 0.407 | 2 | - | - |
C19orf38 | - | - | - | - | 3 | Gain | - |
C19orf66 | - | - | - | - | 3 | Gain | - |
C1GALT1 | - | - | - | - | 3 | Gain | - |
C1orf100 | - | - | - | - | 3 | Gain | - |
C1orf105 | - | - | - | - | 3 | Gain | - |
C1orf112 | - | - | - | - | 3 | Gain | - |
C1orf115 | - | - | - | - | 3 | Gain | - |
C1orf116 | - | - | - | - | 3 | Gain | - |
C1orf131 | - | - | - | - | 3 | Gain | - |
C1orf141 | - | - | - | - | 3 | Gain | - |
C1orf146 | - | - | - | - | 3 | Gain | - |
C1orf158 | p.E178K | Missense | SNP | 0.702 | 2 | - | - |
C1orf174 | p.R4W | Missense | DNP | 0.184 | 2 | - | - |
C1orf189 | - | - | - | - | 3 | Gain | - |
C1orf198 | - | - | - | - | 3 | Gain | - |
C1orf21 | - | - | - | - | 3 | Gain | - |
C1orf226 | - | - | - | - | 3 | Gain | - |
C1orf35 | - | - | - | - | 3 | Gain | - |
C1orf43 | - | - | - | - | 3 | Gain | - |
C1orf52 | - | - | - | - | 3 | Gain | - |
C1orf53 | - | - | - | - | 3 | Gain | - |
C1orf61 | - | - | - | - | 3 | Gain | - |
C1orf74 | - | - | - | - | 3 | Gain | - |
C1orf87 | - | - | - | - | 3 | Gain | - |
C1QL3 | - | - | - | - | 1 | Loss | - |
C1QTNF6 | - | - | - | - | 3 | Gain | - |
C22orf15 | - | - | - | - | 3 | Gain | - |
C22orf23 | - | - | - | - | 3 | Gain | - |
C22orf31 | - | - | - | - | 3 | Gain | - |
C22orf39 | - | - | - | - | 3 | Gain | - |
C22orf42 | - | - | - | - | 3 | Gain | - |
C22orf46 | - | - | - | - | 3 | Gain | - |
C2CD4A | - | - | - | - | 3 | Gain | - |
C2CD4B | - | - | - | - | 3 | Gain | - |
C2orf71 | p.P1087S p.A814V | Missense Missense | SNP SNP | 0.313 0.476 | ND | ND | - |
C3 | p.M83I | Missense | SNP | 0.244 | 2 | - | - |
C3orf14 | - | - | - | - | 3 | Gain | - |
C3orf22 | - | - | - | - | 3 | Gain | - |
C3orf30 | - | - | - | - | 3 | Gain | - |
C3orf33 | - | - | - | - | 3 | Gain | - |
C3orf38 | - | - | - | - | 3 | Gain | - |
C3orf49 | - | - | - | - | 3 | Gain | - |
C3orf52 | - | - | - | - | 3 | Gain | - |
C3orf56 | - | - | - | - | 3 | Gain | - |
C3orf58 | - | - | - | - | 3 | Gain | - |
C3orf70 | - | - | - | - | 3 | Gain | - |
C3orf80 | - | - | - | - | 3 | Gain | - |
C3orf85 | - | - | - | - | 3 | Gain | - |
C4A | - | - | - | - | 1 | Loss | - |
C4B | - | - | - | - | 1 | Loss | - |
C4BPA | - | - | - | - | 3 | Gain | - |
C4BPB | - | - | - | - | 3 | Gain | - |
C4orf17 | - | - | - | - | 1 | Loss | - |
C4orf22 | p.G87D | Missense | SNP | 0.924 | ND | ND | - |
C4orf3 | - | - | - | - | 1 | Loss | - |
C4orf36 | - | - | - | - | 1 | Loss | - |
C4orf54 | - | - | - | - | 1 | Loss | - |
C5orf34 | - | - | - | - | 3 | Gain | - |
C5orf51 | - | - | - | - | 3 | Gain | - |
C5orf67 | - | - | - | - | 3 | Gain | - |
C6 | p.G915E | Missense | SNP | 0.210 | 3 | Gain | - |
C6orf136 | p.Y445C | Missense | SNP | 0.339 | 2 | - | - |
C6orf15 | p.L199F | Missense | SNP | 0.629 | 2 | - | - |
C6orf203 | p.P73S | Missense | SNP | 0.512 | 2 | - | - |
C7 | - | - | - | - | 3 | Gain | - |
C7orf25 | - | - | - | - | 3 | Gain | - |
C7orf26 | p.Q138* | Nonsense | SNP | 0.675 | 3 | Gain | - |
C7orf31 | - | - | - | - | 3 | Gain | - |
C7orf33 | - | - | - | - | 3 | Gain | - |
C7orf43 | p.P143L | Missense | SNP | 0.398 | 3 | Gain | - |
C7orf50 | - | - | - | - | 3 | Gain | - |
C7orf55-LUC7L2 | - | - | - | - | 3 | Gain | - |
C7orf57 | - | - | - | - | 3 | Gain | - |
C7orf61 | p.P79L | Missense | SNP | 0.455 | 3 | Gain | - |
C7orf77 | - | - | - | - | 3 | Gain | - |
C8orf34 | - | - | - | - | 3 | Gain | - |
C8orf37 | - | - | - | - | 3 | Gain | - |
C8orf44 | - | - | - | - | 3 | Gain | - |
C8orf59 | - | - | - | - | 3 | Gain | - |
C8orf74 | p.E165K | Missense | SNP | 0.406 | 2 | - | - |
C8orf88 | - | - | - | - | 3 | Gain | - |
C8orf89 | - | - | - | - | 3 | Gain | - |
C9 | p.S263F | Missense | SNP | 0.292 | 3 | Gain | - |
C9orf66 | - | - | - | - | 0 | Del | - |
C9orf72 | - | - | - | - | 0 | Del | - |
C9orf92 | - | - | - | - | 0 | Del | - |
CA1 | - | - | - | - | 3 | Gain | - |
CA12 | - | - | - | - | 3 | Gain | - |
CA13 | - | - | - | - | 3 | Gain | - |
CA2 | - | - | - | - | 3 | Gain | - |
CA3 | - | - | - | - | 3 | Gain | - |
CA5A | - | - | - | - | 1 | Loss | - |
CA7 | - | - | - | - | 1 | Loss | - |
CA8 | - | - | - | - | 3 | Gain | - |
CAAP1 | - | - | - | - | 0 | Del | - |
CABIN1 | - | - | - | - | 3 | Gain | - |
CABLES2 | p.G447R | Missense | SNP | 0.435 | 2 | - | - |
CABP7 | - | - | - | - | 3 | Gain | - |
CACHD1 | - | - | - | - | 3 | Gain | - |
CACNA1E | p.P1940L | Missense | SNP | 0.772 | 3 | Gain | - |
CACNA1I | - | - | - | - | 3 | Gain | - |
CACNA1S | - | - | - | - | 3 | Gain | - |
CACNA2D1 | - | - | - | - | 3 | Gain | - |
CACNA2D4 | p.R781K p.P22S | Missense Missense | SNP SNP | 0.317 0.292 | 2 | - | - |
CACNB2 | - | - | - | - | 1 | Loss | - |
CACNG2 | - | - | - | - | 3 | Gain | - |
CACYBP | - | - | - | - | 3 | Gain | - |
CAD | p.T508I | Missense | SNP | 0.208 | 2 | - | - |
CADM2 | - | - | - | - | 3 | Gain | - |
CADM3 | - | - | - | - | 3 | Gain | - |
CADPS | p.E1168K | Missense | SNP | 0.223 | 3 | Gain | - |
CADPS2 | - | - | - | - | 3 | Gain | - |
CAGE1 | p.G715R | Missense | SNP | 0.551 | 2 | - | - |
CALB1 | p.G245E | Missense | SNP | 0.256 | 3 | Gain | - |
CALB2 | - | - | - | - | 1 | Loss | - |
CALCR | - | - | - | - | 4 | Gain | - |
CALD1 | - | - | - | - | 3 | Gain | - |
CALML3 | - | - | - | - | 1 | Loss | - |
CALML4 | - | - | - | - | 3 | Gain | - |
CALML5 | - | - | - | - | 1 | Loss | - |
CALN1 | - | - | - | - | 3 | Gain | - |
CALU | - | - | - | - | 3 | Gain | - |
CAMK1 | p.D170N | Missense | SNP | 0.467 | 2 | - | - |
CAMK1D | - | - | - | - | 1 | Loss | - |
CAMK1G | - | - | - | - | 3 | Gain | - |
CAMK2B | - | - | - | - | 3 | Gain | - |
CAMK2D | - | - | - | - | 1 | Loss | - |
CAMK2N2 | - | - | - | - | 3 | Gain | - |
CAMKMT | p.P314S | Missense | SNP | 0.403 | 2 | - | - |
CAMSAP2 | - | - | - | - | 3 | Gain | - |
CAMTA2 | p.P888S | Missense | SNP | 0.235 | 2 | - | - |
CAND1 | p.A1176V | Missense | SNP | 0.673 | 2 | - | - |
CAPN1 | p.S622F | Missense | SNP | 0.697 | 2 | - | - |
CAPN2 | - | - | - | - | 3 | Gain | - |
CAPN3 | - | - | - | - | 1 | Loss | - |
CAPN8 | - | - | - | - | 3 | Gain | - |
CAPN9 | - | - | - | - | 3 | Gain | - |
CAPNS2 | - | - | - | - | 1 | Loss | - |
CAPZA2 | - | - | - | - | 3 | Gain | - |
CARD10 | p.P816S | Missense | SNP | 0.551 | 3 | Gain | - |
CARD11 | - | - | - | - | 3 | Gain | - |
CARD6 | - | - | - | - | 3 | Gain | - |
CARM1 | - | - | - | - | 3 | Gain | - |
CARMIL2 | - | - | - | - | 1 | Loss | - |
CARMIL3 | - | - | - | - | 1 | Loss | - |
CASC10 | - | - | - | - | 1 | Loss | - |
CASC4 | - | - | - | - | 1 | Loss | - |
CASD1 | - | - | - | - | 3 | Gain | - |
CASP2 | - | - | - | - | 3 | Gain | - |
CASP6 | - | - | - | - | 1 | Loss | - |
CASP7 | p.P141S | Missense | SNP | 0.936 | 2 | - | - |
CASQ1 | - | - | - | - | 3 | Gain | - |
CASR | - | - | - | - | 3 | Gain | - |
CASTOR1 | - | - | - | - | 3 | Gain | - |
CASTOR2 | - | - | - | - | 3 | Gain | - |
CASTOR3 | - | - | - | - | 3 | Gain | - |
CASZ1 | p.P982L | Missense | SNP | 0.270 | 2 | - | - |
CATSPER2 | - | - | - | - | 0 | Del | - |
CATSPER3 | p.N112S | Missense | SNP | 0.256 | 2 | - | - |
CATSPERE | - | - | - | - | 3 | Gain | - |
CAV1 | - | - | - | - | 3 | Gain | - |
CAV2 | p.X113_splice | Splice_Site | SNP | 0.283 | 3 | Gain | - |
CBFA2T2 | p.P410L | Missense | SNP | 0.283 | 2 | - | - |
CBFA2T3 | - | - | - | - | 1 | Loss | - |
CBFB | - | - | - | - | 1 | Loss | - |
CBLB | - | - | - | - | 3 | Gain | - |
CBLL1 | - | - | - | - | 3 | Gain | - |
CBLN1 | - | - | - | - | 1 | Loss | - |
CBWD1 | - | - | - | - | 0 | Del | - |
CBX3 | - | - | - | - | 3 | Gain | - |
CBX6 | - | - | - | - | 3 | Gain | - |
CBX7 | - | - | - | - | 3 | Gain | - |
CBY1 | - | - | - | - | 3 | Gain | - |
CCDC102A | - | - | - | - | 1 | Loss | - |
CCDC113 | - | - | - | - | 1 | Loss | - |
CCDC116 | - | - | - | - | 3 | Gain | - |
CCDC117 | - | - | - | - | 3 | Gain | - |
CCDC126 | - | - | - | - | 3 | Gain | - |
CCDC13 | p.E103K | Missense | SNP | 0.168 | 2 | - | - |
CCDC134 | - | - | - | - | 3 | Gain | - |
CCDC136 | - | - | - | - | 3 | Gain | - |
CCDC14 | - | - | - | - | 3 | Gain | - |
CCDC146 | - | - | - | - | 3 | Gain | - |
CCDC151 | - | - | - | - | 3 | Gain | - |
CCDC152 | - | - | - | - | 3 | Gain | - |
CCDC157 | - | - | - | - | 3 | Gain | - |
CCDC158 | - | - | - | - | 1 | Loss | - |
CCDC159 | - | - | - | - | 3 | Gain | - |
CCDC168 | p.L5698F | Missense | SNP | 0.320 | 2 | - | - |
CCDC171 | - | - | - | - | 0 | Del | - |
CCDC18 | - | - | - | - | 3 | Gain | - |
CCDC181 | - | - | - | - | 3 | Gain | - |
CCDC185 | - | - | - | - | 3 | Gain | - |
CCDC188 | - | - | - | - | 3 | Gain | - |
CCDC190 | - | - | - | - | 3 | Gain | - |
CCDC191 | - | - | - | - | 3 | Gain | - |
CCDC3 | - | - | - | - | 1 | Loss | - |
CCDC32 | - | - | - | - | 1 | Loss | - |
CCDC33 | - | - | - | - | 3 | Gain | - |
CCDC39 | p.N53I | Missense | SNP | 0.338 | 3 | Gain | - |
CCDC50 | - | - | - | - | 3 | Gain | - |
CCDC54 | - | - | - | - | 3 | Gain | - |
CCDC58 | - | - | - | - | 3 | Gain | - |
CCDC6 | - | - | - | - | 1 | Loss | - |
CCDC62 | - | - | - | - | 4 | Gain | - |
CCDC7 | - | - | - | - | 1 | Loss | - |
CCDC71L | - | - | - | - | 3 | Gain | - |
CCDC73 | p.E410K | Missense | SNP | 0.333 | 2 | - | - |
CCDC77 | p.A151V | Missense | SNP | 0.297 | 2 | - | - |
CCDC80 | p.R87C | Missense | SNP | 0.485 | 3 | Gain | - |
CCDC85A | p.P538L | Missense | SNP | 0.202 | 2 | - | - |
CCDC9B | - | - | - | - | 1 | Loss | - |
CCL17 | - | - | - | - | 1 | Loss | - |
CCL22 | - | - | - | - | 1 | Loss | - |
CCL24 | - | - | - | - | 3 | Gain | - |
CCL26 | - | - | - | - | 3 | Gain | - |
CCL28 | - | - | - | - | 3 | Gain | - |
CCM2 | - | - | - | - | 3 | Gain | - |
CCNA1 | p.G62D | Missense | SNP | 0.350 | 2 | - | - |
CCNA2 | - | - | - | - | 1 | Loss | - |
CCNB2 | - | - | - | - | 3 | Gain | - |
CCNDBP1 | - | - | - | - | 1 | Loss | - |
CCNE2 | - | - | - | - | 3 | Gain | - |
CCNG2 | - | - | - | - | 1 | Loss | - |
CCNI | - | - | - | - | 1 | Loss | - |
CCNL1 | - | - | - | - | 3 | Gain | - |
CCNO | - | - | - | - | 3 | Gain | - |
CCNY | - | - | - | - | 1 | Loss | - |
CCPG1 | - | - | - | - | 3 | Gain | - |
CCR2 | p.L92F | Missense | SNP | 0.267 | 2 | - | - |
CCSAP | - | - | - | - | 3 | Gain | - |
CCSER1 | - | - | - | - | 1 | Loss | - |
CCT2 | p.P300S | Missense | SNP | 0.320 | 2 | - | - |
CCT3 | - | - | - | - | 3 | Gain | - |
CCT6A | - | - | - | - | 3 | Gain | - |
CCT7 | p.H73Y | Missense | SNP | 0.503 | 2 | - | - |
CCT8L2 | - | - | - | - | 3 | Gain | - |
CCZ1 | - | - | - | - | 3 | Gain | - |
CCZ1B | - | - | - | - | 3 | Gain | - |
CD163 | p.V1059A p.S696L | Missense Missense | SNP SNP | 0.221 0.264 | 2 | - | - |
CD163L1 | p.G711E p.A222V | Missense Missense | SNP SNP | 0.626 0.653 | 2 | - | - |
CD1A | - | - | - | - | 3 | Gain | - |
CD1B | - | - | - | - | 3 | Gain | - |
CD1C | - | - | - | - | 3 | Gain | - |
CD1D | - | - | - | - | 3 | Gain | - |
CD1E | - | - | - | - | 3 | Gain | - |
CD200 | - | - | - | - | 3 | Gain | - |
CD200R1 | p.E98K | Missense | SNP | 0.222 | 3 | Gain | - |
CD200R1L | - | - | - | - | 3 | Gain | - |
CD244 | - | - | - | - | 3 | Gain | - |
CD247 | - | - | - | - | 3 | Gain | - |
CD248 | p.G219R | Missense | SNP | 0.669 | 2 | - | - |
CD274 | - | - | - | - | 0 | Del | - |
CD276 | - | - | - | - | 3 | Gain | - |
CD300LG | p.E277K | Missense | SNP | 0.321 | 2 | - | - |
CD34 | - | - | - | - | 3 | Gain | - |
CD36 | - | - | - | - | 3 | Gain | - |
CD38 | p.S274F | Missense | SNP | 0.459 | 2 | - | - |
CD46 | - | - | - | - | 3 | Gain | - |
CD47 | - | - | - | - | 3 | Gain | - |
CD48 | - | - | - | - | 3 | Gain | - |
CD55 | - | - | - | - | 3 | Gain | - |
CD5L | - | - | - | - | 3 | Gain | - |
CD69 | p.R134Q | Missense | SNP | 0.333 | 2 | - | - |
CD80 | - | - | - | - | 3 | Gain | - |
CD84 | p.D297N | Missense | SNP | 0.807 | 3 | Gain | - |
CD86 | - | - | - | - | 3 | Gain | - |
CD96 | - | - | - | - | 3 | Gain | - |
CDAN1 | - | - | - | - | 1 | Loss | - |
CDC123 | - | - | - | - | 1 | Loss | - |
CDC14A | p.R345* | Nonsense | SNP | 0.184 | 3 | Gain | - |
CDC14C | - | - | - | - | 3 | Gain | - |
CDC20B | - | - | - | - | 3 | Gain | - |
CDC37 | - | - | - | - | 3 | Gain | - |
CDC37L1 | - | - | - | - | 0 | Del | - |
CDC42BPA | - | - | - | - | 3 | Gain | - |
CDC42EP1 | - | - | - | - | 3 | Gain | - |
CDC45 | - | - | - | - | 3 | Gain | - |
CDC7 | - | - | - | - | 3 | Gain | - |
CDC73 | - | - | - | - | 3 | Gain | - |
CDCA7L | - | - | - | - | 3 | Gain | - |
CDH1 | - | - | - | - | 1 | Loss | - |
CDH10 | p.N133T | Missense | SNP | 0.275 | 3 | Gain | - |
CDH11 | - | - | - | - | 1 | Loss | - |
CDH12 | - | - | - | - | 3 | Gain | - |
CDH13 | - | - | - | - | 1 | Loss | - |
CDH15 | - | - | - | - | 1 | Loss | - |
CDH16 | p.L459F | Missense | DNP | 0.952 | 1 | Loss | - |
CDH17 | p.G770E | Missense | SNP | 0.220 | 3 | Gain | - |
CDH18 | - | - | - | - | 3 | Gain | - |
CDH22 | p.S605F | Missense | SNP | 0.448 | 2 | - | - |
CDH3 | - | - | - | - | 1 | Loss | - |
CDH5 | - | - | - | - | 1 | Loss | - |
CDH6 | p.D294N p.R429K | Missense Missense | SNP SNP | 0.456 0.220 | 3 | Gain | - |
CDH8 | - | - | - | - | 1 | Loss | - |
CDH9 | - | - | - | - | 3 | Gain | - |
CDHR2 | p.X256_splice | Splice_Site | SNP | 0.659 | 2 | - | - |
CDHR3 | - | - | - | - | 3 | Gain | - |
CDK10 | - | - | - | - | 1 | Loss | - |
CDK13 | - | - | - | - | 3 | Gain | - |
CDK14 | p.H361Y | Missense | SNP | 0.172 | 3 | Gain | - |
CDK18 | - | - | - | - | 3 | Gain | - |
CDK5 | - | - | - | - | 3 | Gain | - |
CDK5RAP2 | p.S245F | Missense | SNP | 0.947 | 2 | - | - |
CDK6 | - | - | - | - | 4 | Gain | - |
CDKL2 | - | - | - | - | 1 | Loss | - |
CDKN2A | - | - | - | - | 0 | Del | - |
CDKN2B | - | - | - | - | 0 | Del | - |
CDKN2D | - | - | - | - | 3 | Gain | - |
CDNF | - | - | - | - | 1 | Loss | - |
CDON | p.R1115* | Nonsense | SNP | 0.275 | 2 | - | - |
CDPF1 | - | - | - | - | 3 | Gain | - |
CDR1 | p.ED131DN p.D122N | Missense Missense | DNP SNP | 0.434 0.937 | ND | ND | - |
CDS1 | - | - | - | - | 1 | Loss | - |
CDT1 | - | - | - | - | 1 | Loss | - |
CDV3 | - | - | - | - | 3 | Gain | - |
CDYL2 | - | - | - | - | 1 | Loss | - |
CEACAM16 | p.G340D | Missense | SNP | 0.261 | 2 | - | - |
CECR2 | p.E95K | Missense | SNP | 0.217 | 3 | Gain | - |
CELF2 | - | - | - | - | 1 | Loss | - |
CELF6 | p.Q155* | Nonsense | SNP | 0.203 | 3 | Gain | - |
CELSR1 | - | - | - | - | 3 | Gain | - |
CELSR2 | p.W112* | Nonsense | DNP | 0.693 | 2 | - | - |
CEMIP | - | - | - | - | 3 | Gain | - |
CENPBD1 | - | - | - | - | 1 | Loss | - |
CENPE | - | - | - | - | 1 | Loss | - |
CENPF | - | - | - | - | 3 | Gain | - |
CENPL | - | - | - | - | 4 | Gain | - |
CENPM | - | - | - | - | 3 | Gain | - |
CENPN | - | - | - | - | 1 | Loss | - |
CENPT | - | - | - | - | 1 | Loss | - |
CEP104 | p.R55Q | Missense | SNP | 0.525 | 2 | - | - |
CEP112 | p.P218S | Missense | SNP | 0.320 | 2 | - | - |
CEP128 | p.R1005C | Missense | SNP | 0.649 | 2 | - | - |
CEP152 | - | - | - | - | 1 | Loss | - |
CEP162 | p.E623K | Missense | SNP | 0.221 | 2 | - | - |
CEP170 | - | - | - | - | 3 | Gain | - |
CEP170B | p.S291F | Missense | SNP | 0.330 | 2 | - | - |
CEP19 | - | - | - | - | 3 | Gain | - |
CEP295 | p.S1302L | Missense | SNP | 0.326 | 2 | - | - |
CEP350 | p.S1256F | Missense | SNP | 0.796 | 3 | Gain | - |
CEP41 | - | - | - | - | 3 | Gain | - |
CEP63 | - | - | - | - | 3 | Gain | - |
CEP70 | - | - | - | - | 3 | Gain | - |
CEP97 | - | - | - | - | 3 | Gain | - |
CER1 | p.K141T | Missense | SNP | 0.767 | 0 | Del | - |
CERK | - | - | - | - | 3 | Gain | - |
CERS3 | - | - | - | - | 3 | Gain | - |
CES1 | - | - | - | - | 1 | Loss | - |
CES2 | - | - | - | - | 1 | Loss | - |
CES3 | - | - | - | - | 1 | Loss | - |
CES4A | - | - | - | - | 1 | Loss | - |
CES5A | - | - | - | - | 1 | Loss | - |
CETN1 | p.D116N | Missense | SNP | 0.430 | 2 | - | - |
CETP | - | - | - | - | 1 | Loss | - |
CFAP100 | - | - | - | - | 3 | Gain | - |
CFAP126 | - | - | - | - | 3 | Gain | - |
CFAP161 | - | - | - | - | 3 | Gain | - |
CFAP20 | - | - | - | - | 1 | Loss | - |
CFAP299 | - | - | - | - | 1 | Loss | - |
CFAP44 | - | - | - | - | 3 | Gain | - |
CFAP45 | - | - | - | - | 3 | Gain | - |
CFAP54 | p.C1127G p.K2152E | Missense Missense | SNP SNP | 0.608 0.558 | 2 | - | - |
CFAP57 | p.G639D | Missense | SNP | 0.235 | 2 | - | - |
CFAP69 | p.I318V | Missense | SNP | 0.138 | 3 | Gain | - |
CFAP99 | p.E189K p.E251K | Missense Missense | SNP SNP | 0.169 0.235 | 2 | - | - |
CFDP1 | - | - | - | - | 1 | Loss | - |
CFH | - | - | - | - | 3 | Gain | - |
CFHR1 | - | - | - | - | 3 | Gain | - |
CFHR2 | - | - | - | - | 3 | Gain | - |
CFHR3 | - | - | - | - | 3 | Gain | - |
CFHR4 | p.G531E | Missense | SNP | 0.777 | 3 | Gain | - |
CFHR5 | - | - | - | - | 3 | Gain | - |
CFI | p.R339Q | Missense | SNP | 0.908 | 1 | Loss | - |
CFTR | p.P676S | Missense | SNP | 0.671 | 3 | Gain | - |
CGGBP1 | - | - | - | - | 3 | Gain | - |
CGNL1 | - | - | - | - | 3 | Gain | - |
CHAC1 | - | - | - | - | 1 | Loss | - |
CHADL | - | - | - | - | 3 | Gain | - |
CHAT | - | - | - | - | 1 | Loss | - |
CHCHD10 | - | - | - | - | 3 | Gain | - |
CHCHD2 | - | - | - | - | 3 | Gain | - |
CHCHD3 | - | - | - | - | 3 | Gain | - |
CHCHD6 | - | - | - | - | 3 | Gain | - |
CHD1 | p.H1557Y | Missense | SNP | 0.297 | 2 | - | - |
CHD2 | - | - | - | - | 3 | Gain | - |
CHD7 | p.S2865L | Missense | SNP | 0.253 | 3 | Gain | - |
CHD9 | - | - | - | - | 1 | Loss | - |
CHEK2 | - | - | - | - | 3 | Gain | - |
CHI3L1 | - | - | - | - | 3 | Gain | - |
CHIT1 | p.V197L | Missense | SNP | 0.152 | 3 | Gain | - |
CHML | - | - | - | - | 3 | Gain | - |
CHMP1A | - | - | - | - | 1 | Loss | - |
CHMP2B | - | - | - | - | 3 | Gain | - |
CHMP4C | - | - | - | - | 3 | Gain | - |
CHMP5 | - | - | - | - | 0 | Del | - |
CHN2 | - | - | - | - | 3 | Gain | - |
CHP1 | - | - | - | - | 1 | Loss | - |
CHPF2 | - | - | - | - | 3 | Gain | - |
CHRD | p.P801L | Missense | SNP | 0.459 | 3 | Gain | - |
CHRM2 | - | - | - | - | 3 | Gain | - |
CHRM3 | - | - | - | - | 3 | Gain | - |
CHRM5 | - | - | - | - | 1 | Loss | - |
CHRNA2 | p.E28K | Missense | SNP | 0.397 | 2 | - | - |
CHRNA3 | - | - | - | - | 3 | Gain | - |
CHRNA5 | - | - | - | - | 3 | Gain | - |
CHRNA7 | - | - | - | - | 1 | Loss | - |
CHRNB2 | - | - | - | - | 3 | Gain | - |
CHRNB3 | p.M304I | Missense | SNP | 0.290 | ND | ND | - |
CHRNB4 | - | - | - | - | 3 | Gain | - |
CHRND | p.P152L | Missense | SNP | 0.217 | 2 | - | - |
CHST12 | p.P365S | Missense | SNP | 0.338 | 3 | Gain | - |
CHST13 | - | - | - | - | 3 | Gain | - |
CHST14 | - | - | - | - | 1 | Loss | - |
CHST2 | - | - | - | - | 3 | Gain | - |
CHST4 | - | - | - | - | 1 | Loss | - |
CHST5 | - | - | - | - | 1 | Loss | - |
CHST6 | - | - | - | - | 1 | Loss | - |
CHSY1 | - | - | - | - | 3 | Gain | - |
CHSY3 | p.H837Y | Missense | SNP | 0.305 | 2 | - | - |
CHTF8 | - | - | - | - | 1 | Loss | - |
CHTOP | - | - | - | - | 3 | Gain | - |
CIAO2A | - | - | - | - | 3 | Gain | - |
CIAO2B | - | - | - | - | 1 | Loss | - |
CIAPIN1 | - | - | - | - | 1 | Loss | - |
CIB1 | - | - | - | - | 3 | Gain | - |
CIB2 | - | - | - | - | 3 | Gain | - |
CILP | - | - | - | - | 3 | Gain | - |
CIP2A | - | - | - | - | 3 | Gain | - |
CISD1 | - | - | - | - | 1 | Loss | - |
CISD2 | - | - | - | - | 1 | Loss | - |
CIZ1 | p.P194S | Missense | SNP | 0.780 | 2 | - | - |
CKLF | - | - | - | - | 1 | Loss | - |
CKLF-CMTM1 | - | - | - | - | 1 | Loss | - |
CKMT1A | - | - | - | - | 1 | Loss | - |
CKMT1B | - | - | - | - | 0 | Del | - |
CKS1B | - | - | - | - | 3 | Gain | - |
CLCA1 | - | - | - | - | 3 | Gain | - |
CLCA2 | - | - | - | - | 3 | Gain | - |
CLCA4 | - | - | - | - | 3 | Gain | - |
CLCN1 | - | - | - | - | 3 | Gain | - |
CLCN2 | p.Y553C | Missense | SNP | 0.471 | 3 | Gain | - |
CLCNKA | p.E3K | Missense | SNP | 0.253 | 2 | - | - |
CLCNKB | p.G23N | Missense | DNP | 0.755 | 2 | - | - |
CLDN1 | - | - | - | - | 3 | Gain | - |
CLDN11 | - | - | - | - | 3 | Gain | - |
CLDN12 | - | - | - | - | 3 | Gain | - |
CLDN14 | p.M18I | Missense | SNP | 0.333 | 2 | - | - |
CLDN15 | - | - | - | - | 3 | Gain | - |
CLDN16 | - | - | - | - | 3 | Gain | - |
CLDN18 | - | - | - | - | 3 | Gain | - |
CLDN3 | - | - | - | - | 3 | Gain | - |
CLDN4 | p.V100M | Missense | SNP | 0.304 | 3 | Gain | - |
CLDN5 | - | - | - | - | 3 | Gain | - |
CLDN6 | p.L174* p.L173F | Nonsense Missense | SNP SNP | 0.392 0.395 | 2 | - | - |
CLDND1 | - | - | - | - | 3 | Gain | - |
CLEC16A | p.S53F | Missense | SNP | 0.532 | 2 | - | - |
CLEC18A | - | - | - | - | 1 | Loss | - |
CLEC18B | - | - | - | - | 1 | Loss | - |
CLEC18C | - | - | - | - | 1 | Loss | - |
CLEC2L | - | - | - | - | 3 | Gain | - |
CLEC3A | - | - | - | - | 1 | Loss | - |
CLEC5A | - | - | - | - | 3 | Gain | - |
CLIP2 | - | - | - | - | 3 | Gain | - |
CLK2 | - | - | - | - | 3 | Gain | - |
CLK3 | - | - | - | - | 3 | Gain | - |
CLN3 | p.P234S | Missense | SNP | 0.118 | 2 | - | - |
CLN6 | - | - | - | - | 3 | Gain | - |
CLPX | - | - | - | - | 3 | Gain | - |
CLRN1 | - | - | - | - | 3 | Gain | - |
CLSTN2 | - | - | - | - | 3 | Gain | - |
CLTCL1 | - | - | - | - | 3 | Gain | - |
CLVS1 | - | - | - | - | 3 | Gain | - |
CLVS2 | p.D93N | Missense | SNP | 0.645 | 2 | - | - |
CMA1 | p.E21V | Missense | SNP | 0.552 | 2 | - | - |
CMC2 | - | - | - | - | 1 | Loss | - |
CMIP | p.S349F | Missense | SNP | 0.344 | 1 | Loss | - |
CMKLR1 | p.P313S | Missense | SNP | 0.310 | 2 | - | - |
CMSS1 | - | - | - | - | 3 | Gain | - |
CMTM1 | - | - | - | - | 1 | Loss | - |
CMTM2 | - | - | - | - | 1 | Loss | - |
CMTM3 | - | - | - | - | 1 | Loss | - |
CMTM4 | - | - | - | - | 1 | Loss | - |
CMTR2 | - | - | - | - | 1 | Loss | - |
CNBD1 | p.T143A | Missense | SNP | 0.462 | 3 | Gain | - |
CNBP | - | - | - | - | 3 | Gain | - |
CNEP1R1 | - | - | - | - | 1 | Loss | - |
CNGA2 | p.D555N | Missense | SNP | 0.449 | ND | ND | - |
CNGB1 | - | - | - | - | 1 | Loss | - |
CNGB3 | - | - | - | - | 3 | Gain | - |
CNIH3 | - | - | - | - | 3 | Gain | - |
CNIH4 | - | - | - | - | 3 | Gain | - |
CNN1 | - | - | - | - | 3 | Gain | - |
CNN3 | - | - | - | - | 3 | Gain | - |
CNOT1 | - | - | - | - | 1 | Loss | - |
CNOT2 | p.T93I | Missense | SNP | 0.651 | 2 | - | - |
CNOT4 | - | - | - | - | 3 | Gain | - |
CNOT6L | - | - | - | - | 1 | Loss | - |
CNPY1 | - | - | - | - | 3 | Gain | - |
CNPY4 | - | - | - | - | 3 | Gain | - |
CNST | - | - | - | - | 3 | Gain | - |
CNTLN | - | - | - | - | 0 | Del | - |
CNTN2 | - | - | - | - | 3 | Gain | - |
CNTN3 | - | - | - | - | 3 | Gain | - |
CNTN4 | p.D217N | Missense | SNP | 0.180 | 2 | - | - |
CNTNAP1 | p.S584F | Missense | SNP | 0.318 | 2 | - | - |
CNTNAP2 | - | - | - | - | 3 | Gain | - |
CNTNAP3 | - | - | - | - | 1 | Loss | - |
CNTNAP3B | - | - | - | - | 1 | Loss | - |
CNTNAP4 | - | - | - | - | 1 | Loss | - |
CNTNAP5 | p.E1290K | Missense | SNP | 0.230 | 2 | - | - |
COA1 | - | - | - | - | 3 | Gain | - |
COA6 | - | - | - | - | 3 | Gain | - |
COASY | p.F330L | Missense | SNP | 0.327 | 2 | - | - |
COBL | - | - | - | - | 3 | Gain | - |
COG2 | - | - | - | - | 3 | Gain | - |
COG4 | - | - | - | - | 1 | Loss | - |
COG5 | - | - | - | - | 3 | Gain | - |
COG7 | p.E610G | Missense | SNP | 0.128 | 2 | - | - |
COG8 | - | - | - | - | 1 | Loss | - |
COL10A1 | p.G206D | Missense | SNP | 0.369 | 2 | - | - |
COL11A1 | p.P1355S | Missense | SNP | 0.208 | 3 | Gain | - |
COL14A1 | - | - | - | - | 3 | Gain | - |
COL19A1 | p.R877* | Nonsense | SNP | 0.286 | 2 | - | - |
COL1A2 | - | - | - | - | 4 | Gain | - |
COL21A1 | p.G922E p.G533S | Missense Missense | SNP SNP | 0.235 0.295 | 2 | - | - |
COL22A1 | p.P671L | Missense | SNP | 0.254 | 2 | - | - |
COL24A1 | - | - | - | - | 3 | Gain | - |
COL25A1 | - | - | - | - | 1 | Loss | - |
COL26A1 | p.C126W | Missense | SNP | 0.371 | 3 | Gain | - |
COL27A1 | p.X945_splice | Splice_Site | SNP | 0.575 | 2 | - | - |
COL28A1 | - | - | - | - | 3 | Gain | - |
COL4A3 | p.P460S p.G839R | Missense Missense | SNP SNP | 0.496 0.187 | 2 | - | - |
COL4A4 | p.W1596* p.P917S p.P883S | Nonsense Missense Missense | SNP SNP SNP | 0.181 0.343 0.223 | 2 | - | - |
COL5A1 | p.P560L | Missense | SNP | 0.950 | 2 | - | - |
COL5A3 | - | - | - | - | 3 | Gain | - |
COL6A5 | p.P1717S | Missense | SNP | 0.540 | 3 | Gain | - |
COL6A6 | - | - | - | - | 3 | Gain | - |
COL8A1 | - | - | - | - | 3 | Gain | - |
COL8A2 | p.G179R | Missense | SNP | 0.327 | 2 | - | - |
COL9A1 | p.P892S | Missense | SNP | 0.364 | 2 | - | - |
COLEC10 | - | - | - | - | 3 | Gain | - |
COLGALT1 | p.E314K | Missense | SNP | 0.481 | 2 | - | - |
COLGALT2 | - | - | - | - | 3 | Gain | - |
COMMD2 | - | - | - | - | 3 | Gain | - |
COMMD3 | - | - | - | - | 1 | Loss | - |
COMMD3-BMI1 | - | - | - | - | 1 | Loss | - |
COMMD4 | - | - | - | - | 3 | Gain | - |
COMT | p.E68K | Missense | DNP | 0.586 | 3 | Gain | - |
COP1 | - | - | - | - | 3 | Gain | - |
COPA | - | - | - | - | 3 | Gain | - |
COPB2 | - | - | - | - | 3 | Gain | - |
COPG1 | - | - | - | - | 3 | Gain | - |
COPG2 | - | - | - | - | 3 | Gain | - |
COPS2 | - | - | - | - | 1 | Loss | - |
COPS4 | - | - | - | - | 1 | Loss | - |
COPS5 | - | - | - | - | 3 | Gain | - |
COPS6 | - | - | - | - | 3 | Gain | - |
COQ2 | - | - | - | - | 1 | Loss | - |
COQ8A | - | - | - | - | 3 | Gain | - |
COQ9 | - | - | - | - | 1 | Loss | - |
CORO2B | - | - | - | - | 3 | Gain | - |
COTL1 | - | - | - | - | 1 | Loss | - |
COX10 | p.P382S | Missense | SNP | 0.309 | 2 | - | - |
COX17 | - | - | - | - | 3 | Gain | - |
COX19 | - | - | - | - | 3 | Gain | - |
COX20 | - | - | - | - | 3 | Gain | - |
COX4I1 | - | - | - | - | 1 | Loss | - |
COX5A | - | - | - | - | 3 | Gain | - |
COX6C | - | - | - | - | 3 | Gain | - |
CP | - | - | - | - | 3 | Gain | - |
CPA1 | - | - | - | - | 3 | Gain | - |
CPA2 | - | - | - | - | 3 | Gain | - |
CPA3 | - | - | - | - | 3 | Gain | - |
CPA4 | - | - | - | - | 3 | Gain | - |
CPA5 | - | - | - | - | 3 | Gain | - |
CPA6 | - | - | - | - | 3 | Gain | - |
CPB1 | - | - | - | - | 3 | Gain | - |
CPE | p.G178D | Missense | SNP | 0.267 | 2 | - | - |
CPEB1 | - | - | - | - | 3 | Gain | - |
CPED1 | - | - | - | - | 3 | Gain | - |
CPLANE1 | - | - | - | - | 3 | Gain | - |
CPLX3 | - | - | - | - | 3 | Gain | - |
CPM | p.R289C | Missense | SNP | 0.300 | 2 | - | - |
CPN2 | - | - | - | - | 3 | Gain | - |
CPNE2 | - | - | - | - | 1 | Loss | - |
CPNE3 | - | - | - | - | 3 | Gain | - |
CPNE4 | p.S234F | Missense | SNP | 0.248 | 3 | Gain | - |
CPNE7 | - | - | - | - | 1 | Loss | - |
CPOX | - | - | - | - | 3 | Gain | - |
CPQ | - | - | - | - | 3 | Gain | - |
CPSF4 | - | - | - | - | 3 | Gain | - |
CPT1B | p.P371F | Missense | DNP | 0.502 | 2 | - | - |
CPVL | - | - | - | - | 3 | Gain | - |
CR1 | - | - | - | - | 3 | Gain | - |
CR1L | - | - | - | - | 3 | Gain | - |
CR2 | - | - | - | - | 3 | Gain | - |
CRABP1 | - | - | - | - | 3 | Gain | - |
CRABP2 | - | - | - | - | 3 | Gain | - |
CRB1 | p.E1122K | Missense | SNP | 0.160 | 3 | Gain | - |
CRCP | - | - | - | - | 3 | Gain | - |
CREB3L2 | - | - | - | - | 3 | Gain | - |
CREB3L3 | p.S338F | Missense | SNP | 0.510 | 2 | - | - |
CREB3L4 | - | - | - | - | 3 | Gain | - |
CREB5 | - | - | - | - | 3 | Gain | - |
CREBBP | p.P844S | Missense | SNP | 0.142 | 2 | - | - |
CREG1 | - | - | - | - | 3 | Gain | - |
CRELD2 | - | - | - | - | 3 | Gain | - |
CREM | - | - | - | - | 1 | Loss | - |
CRH | - | - | - | - | 3 | Gain | - |
CRHR2 | p.S327F | Missense | SNP | 0.345 | 3 | Gain | - |
CRISP2 | p.G186R | Missense | SNP | 0.370 | 2 | - | - |
CRISPLD1 | - | - | - | - | 3 | Gain | - |
CRISPLD2 | - | - | - | - | 1 | Loss | - |
CRKL | - | - | - | - | 3 | Gain | - |
CRNN | p.G431R | Missense | SNP | 0.230 | 2 | - | - |
CROT | - | - | - | - | 3 | Gain | - |
CRP | - | - | - | - | 3 | Gain | - |
CRTC2 | - | - | - | - | 3 | Gain | - |
CRTC3 | - | - | - | - | 3 | Gain | - |
CRYBA4 | - | - | - | - | 3 | Gain | - |
CRYBB1 | - | - | - | - | 3 | Gain | - |
CRYBB2 | p.P37S | Missense | SNP | 0.548 | 3 | Gain | - |
CRYBB3 | - | - | - | - | 3 | Gain | - |
CRYBG3 | - | - | - | - | 3 | Gain | - |
CRYGN | - | - | - | - | 3 | Gain | - |
CRYGS | - | - | - | - | 3 | Gain | - |
CRYL1 | - | - | - | - | 3 | Gain | - |
CRYZ | - | - | - | - | 3 | Gain | - |
CSDC2 | - | - | - | - | 3 | Gain | - |
CSF2RB | p.K619R | Missense | SNP | 0.576 | 3 | Gain | - |
CSGALNACT2 | - | - | - | - | 1 | Loss | - |
CSK | - | - | - | - | 3 | Gain | - |
CSMD1 | p.G3461E p.S1514F p.P39S | Missense Missense Missense | SNP SNP SNP | 0.448 0.255 0.316 | 2 | - | - |
CSMD2 | p.P2299S p.G2150K p.P259S | Missense Missense Missense | SNP DNP SNP | 0.701 0.202 0.245 | 2 | - | - |
CSMD3 | p.R1417C p.E610K | Missense Missense | SNP SNP | 0.420 0.508 | 3 | Gain | - |
CSN2 | p.S23L | Missense | SNP | 0.314 | 2 | - | - |
CSNK1A1 | p.R244K | Missense | SNP | 0.239 | 2 | - | - |
CSNK1E | - | - | - | - | 3 | Gain | - |
CSNK1G1 | - | - | - | - | 3 | Gain | - |
CSNK2A2 | - | - | - | - | 1 | Loss | - |
CSPG4 | - | - | - | - | 3 | Gain | - |
CSPP1 | - | - | - | - | 3 | Gain | - |
CSRP1 | - | - | - | - | 3 | Gain | - |
CSTA | - | - | - | - | 3 | Gain | - |
CSTF2T | - | - | - | - | 1 | Loss | - |
CT62 | - | - | - | - | 3 | Gain | - |
CTBS | - | - | - | - | 3 | Gain | - |
CTCF | - | - | - | - | 1 | Loss | - |
CTDP1 | p.P312L | Missense | SNP | 0.473 | 2 | - | - |
CTDSPL2 | - | - | - | - | 1 | Loss | - |
CTH | - | - | - | - | 3 | Gain | - |
CTHRC1 | - | - | - | - | 3 | Gain | - |
CTLA4 | p.R193K | Missense | SNP | 0.247 | 2 | - | - |
CTNND2 | p.P277S | Missense | SNP | 0.552 | 2 | - | - |
CTNS | p.V340A | Missense | SNP | 0.637 | 2 | - | - |
CTRB1 | - | - | - | - | 1 | Loss | - |
CTRB2 | - | - | - | - | 1 | Loss | - |
CTRL | - | - | - | - | 1 | Loss | - |
CTSE | - | - | - | - | 3 | Gain | - |
CTSH | - | - | - | - | 3 | Gain | - |
CTTNBP2 | - | - | - | - | 3 | Gain | - |
CTU2 | - | - | - | - | 1 | Loss | - |
CTXN2 | - | - | - | - | 1 | Loss | - |
CUBN | - | - | - | - | 1 | Loss | - |
CUL1 | - | - | - | - | 3 | Gain | - |
CUL2 | - | - | - | - | 1 | Loss | - |
CUX1 | - | - | - | - | 3 | Gain | - |
CUX2 | p.E86K | Missense | SNP | 0.259 | 2 | - | - |
CX3CL1 | - | - | - | - | 1 | Loss | - |
CXCL10 | - | - | - | - | 1 | Loss | - |
CXCL11 | - | - | - | - | 1 | Loss | - |
CXCL12 | - | - | - | - | 1 | Loss | - |
CXCL13 | - | - | - | - | 1 | Loss | - |
CXCL8 | p.E82K | Missense | SNP | 0.551 | 2 | - | - |
CXCL9 | - | - | - | - | 1 | Loss | - |
CXCR1 | p.N349S | Missense | SNP | 0.483 | 2 | - | - |
CXorf66 | p.S151N | Missense | SNP | 0.976 | ND | ND | - |
CXorf67 | p.S262F | Missense | SNP | 0.517 | ND | ND | - |
CXXC4 | - | - | - | - | 1 | Loss | - |
CYB5B | - | - | - | - | 1 | Loss | - |
CYB5R1 | - | - | - | - | 3 | Gain | - |
CYB5R3 | - | - | - | - | 3 | Gain | - |
CYB5RL | p.G172E | Missense | SNP | 0.270 | 2 | - | - |
CYBA | - | - | - | - | 1 | Loss | - |
CYCS | - | - | - | - | 3 | Gain | - |
CYLD | - | - | - | - | 1 | Loss | - |
CYP11A1 | - | - | - | - | 3 | Gain | - |
CYP19A1 | - | - | - | - | 1 | Loss | - |
CYP1A1 | - | - | - | - | 3 | Gain | - |
CYP1A2 | - | - | - | - | 3 | Gain | - |
CYP21A2 | - | - | - | - | 1 | Loss | - |
CYP2C18 | p.A321T | Missense | SNP | 0.383 | 2 | - | - |
CYP2D6 | - | - | - | - | 3 | Gain | - |
CYP2D7 | - | - | - | - | 3 | Gain | - |
CYP2E1 | p.T212F | Missense | DNP | 0.521 | 2 | - | - |
CYP2J2 | - | - | - | - | 3 | Gain | - |
CYP2U1 | - | - | - | - | 1 | Loss | - |
CYP2W1 | - | - | - | - | 3 | Gain | - |
CYP3A4 | - | - | - | - | 3 | Gain | - |
CYP3A43 | - | - | - | - | 3 | Gain | - |
CYP3A5 | - | - | - | - | 3 | Gain | - |
CYP3A7 | p.E382K p.G48E p.G31E | Missense Missense Missense | SNP SNP SNP | 0.452 0.312 0.567 | 3 | Gain | - |
CYP3A7-CYP3A51P | - | - | - | - | 3 | Gain | - |
CYP4A11 | p.P384S | Missense | SNP | 0.235 | 2 | - | - |
CYP4F12 | p.D285N p.D374N p.P460S | Missense Missense Missense | SNP SNP SNP | 0.511 0.315 0.505 | 2 | - | - |
CYP51A1 | - | - | - | - | 3 | Gain | - |
CYP7B1 | p.R452Q p.P96L | Missense Missense | SNP SNP | 0.176 0.289 | 3 | Gain | - |
CYP8B1 | p.M47I | Missense | SNP | 0.297 | 2 | - | - |
CYR61 | - | - | - | - | 3 | Gain | - |
CYREN | - | - | - | - | 3 | Gain | - |
CYTH3 | - | - | - | - | 3 | Gain | - |
CYTH4 | - | - | - | - | 3 | Gain | - |
DAB2 | - | - | - | - | 3 | Gain | - |
DACH2 | p.D158N | Missense | SNP | 0.441 | ND | ND | - |
DAGLB | - | - | - | - | 3 | Gain | - |
DAP3 | - | - | - | - | 3 | Gain | - |
DAPK2 | - | - | - | - | 3 | Gain | - |
DAPP1 | - | - | - | - | 1 | Loss | - |
DARS2 | - | - | - | - | 4 | Gain | - |
DBF4 | - | - | - | - | 3 | Gain | - |
DBNDD1 | - | - | - | - | 1 | Loss | - |
DBNL | - | - | - | - | 3 | Gain | - |
DBR1 | - | - | - | - | 3 | Gain | - |
DBT | - | - | - | - | 3 | Gain | - |
DCAF12 | - | - | - | - | 0 | Del | - |
DCAF13 | - | - | - | - | 3 | Gain | - |
DCAF4L2 | p.R125W | Missense | SNP | 0.507 | 3 | Gain | - |
DCAF6 | - | - | - | - | 3 | Gain | - |
DCAF8 | - | - | - | - | 3 | Gain | - |
DCBLD2 | - | - | - | - | 3 | Gain | - |
DCHS2 | - | - | - | - | 1 | Loss | - |
DCLK1 | p.G393E p.R60C | Missense Missense | SNP SNP | 0.296 0.402 | 2 | - | - |
DCLK2 | - | - | - | - | 1 | Loss | - |
DCLRE1C | - | - | - | - | 1 | Loss | - |
DCST1 | - | - | - | - | 3 | Gain | - |
DCST2 | - | - | - | - | 3 | Gain | - |
DCSTAMP | - | - | - | - | 3 | Gain | - |
DCUN1D1 | - | - | - | - | 3 | Gain | - |
DDAH1 | - | - | - | - | 3 | Gain | - |
DDC | - | - | - | - | 3 | Gain | - |
DDIT4L | - | - | - | - | 1 | Loss | - |
DDR2 | - | - | - | - | 3 | Gain | - |
DDT | - | - | - | - | 3 | Gain | - |
DDTL | - | - | - | - | 3 | Gain | - |
DDX17 | - | - | - | - | 3 | Gain | - |
DDX19A | - | - | - | - | 1 | Loss | - |
DDX19B | - | - | - | - | 1 | Loss | - |
DDX28 | - | - | - | - | 1 | Loss | - |
DDX4 | - | - | - | - | 3 | Gain | - |
DDX50 | p.M528V | Missense | SNP | 0.546 | 2 | - | - |
DDX56 | - | - | - | - | 3 | Gain | - |
DDX58 | - | - | - | - | 0 | Del | - |
DDX59 | - | - | - | - | 3 | Gain | - |
DECR1 | - | - | - | - | 3 | Gain | - |
DEDD | - | - | - | - | 3 | Gain | - |
DEF8 | p.L35F | Missense | SNP | 0.960 | 1 | Loss | - |
DEFB110 | p.E50K | Missense | SNP | 0.275 | 2 | - | - |
DEGS1 | - | - | - | - | 3 | Gain | - |
DENND1B | - | - | - | - | 3 | Gain | - |
DENND2A | - | - | - | - | 3 | Gain | - |
DENND4A | - | - | - | - | 3 | Gain | - |
DENND4B | - | - | - | - | 3 | Gain | - |
DENND4C | - | - | - | - | 0 | Del | - |
DEPDC1 | - | - | - | - | 3 | Gain | - |
DEPDC1B | - | - | - | - | 3 | Gain | - |
DEPDC5 | - | - | - | - | 3 | Gain | - |
DEPP1 | - | - | - | - | 1 | Loss | - |
DEPTOR | - | - | - | - | 3 | Gain | - |
DERL1 | - | - | - | - | 3 | Gain | - |
DERL3 | - | - | - | - | 3 | Gain | - |
DESI1 | - | - | - | - | 3 | Gain | - |
DESI2 | - | - | - | - | 3 | Gain | - |
DET1 | - | - | - | - | 3 | Gain | - |
DGCR2 | - | - | - | - | 3 | Gain | - |
DGCR6 | - | - | - | - | 3 | Gain | - |
DGCR6L | - | - | - | - | 3 | Gain | - |
DGCR8 | p.A722V | Missense | DNP | 0.169 | 3 | Gain | - |
DGKB | p.G108C | Missense | SNP | 0.338 | 3 | Gain | - |
DGKG | - | - | - | - | 3 | Gain | - |
DGKI | - | - | - | - | 3 | Gain | - |
DHFR2 | - | - | - | - | 3 | Gain | - |
DHODH | - | - | - | - | 1 | Loss | - |
DHRS2 | - | - | - | - | 1 | Loss | - |
DHRS4 | - | - | - | - | 1 | Loss | - |
DHRS4L2 | - | - | - | - | 1 | Loss | - |
DHRS9 | p.R41K | Missense | SNP | 0.266 | 2 | - | - |
DHTKD1 | - | - | - | - | 1 | Loss | - |
DHX29 | - | - | - | - | 3 | Gain | - |
DHX36 | - | - | - | - | 3 | Gain | - |
DHX38 | - | - | - | - | 1 | Loss | - |
DHX8 | p.G897R | Missense | SNP | 0.343 | 2 | - | - |
DHX9 | p.R781C | Missense | SNP | 0.161 | 3 | Gain | - |
DIDO1 | p.S1617F | Missense | SNP | 0.240 | 2 | - | - |
DIP2C | - | - | - | - | 1 | Loss | - |
DIRAS3 | - | - | - | - | 3 | Gain | - |
DIRC2 | - | - | - | - | 3 | Gain | - |
DIS3L | - | - | - | - | 3 | Gain | - |
DISC1 | - | - | - | - | 3 | Gain | - |
DISP1 | - | - | - | - | 3 | Gain | - |
DISP2 | p.L1022F | Missense | SNP | 0.467 | 1 | Loss | - |
DISP3 | p.R222Q | Missense | SNP | 0.246 | 2 | - | - |
DKK1 | - | - | - | - | 1 | Loss | - |
DKK2 | - | - | - | - | 1 | Loss | - |
DLD | - | - | - | - | 3 | Gain | - |
DLG1 | - | - | - | - | 3 | Gain | - |
DLGAP3 | p.R653S | Missense | SNP | 0.605 | 2 | - | - |
DLL4 | - | - | - | - | 1 | Loss | - |
DLX5 | - | - | - | - | 3 | Gain | - |
DLX6 | p.P195S p.R219C | Missense Missense | SNP SNP | 0.181 0.252 | 3 | Gain | - |
DMAC1 | - | - | - | - | 0 | Del | - |
DMC1 | - | - | - | - | 3 | Gain | - |
DMD | p.L510F | Missense | SNP | 0.950 | ND | ND | - |
DMP1 | - | - | - | - | 1 | Loss | - |
DMRT1 | - | - | - | - | 0 | Del | - |
DMRT2 | - | - | - | - | 0 | Del | - |
DMRT3 | - | - | - | - | 0 | Del | - |
DMRTA1 | - | - | - | - | 0 | Del | - |
DMTF1 | - | - | - | - | 3 | Gain | - |
DMWD | p.P276S | Missense | SNP | 0.216 | 2 | - | - |
DMXL1 | p.G1150D | Missense | SNP | 0.314 | 2 | - | - |
DMXL2 | - | - | - | - | 1 | Loss | - |
DNAAF1 | - | - | - | - | 1 | Loss | - |
DNAAF4 | - | - | - | - | 3 | Gain | - |
DNAAF5 | - | - | - | - | 3 | Gain | - |
DNAH1 | p.L3278V | Missense | SNP | 0.520 | 2 | - | - |
DNAH11 | - | - | - | - | 3 | Gain | - |
DNAH14 | p.S2138F p.P2404L | Missense Missense | SNP SNP | 0.167 0.169 | 3 | Gain | - |
DNAH17 | p.D4080N p.E1352K | Missense Missense | SNP SNP | 0.595 0.309 | 2 | - | - |
DNAH3 | p.E3387K p.S1958F | Missense Missense | SNP SNP | 0.585 0.294 | 2 | - | - |
DNAH5 | p.R4592* p.D4260N p.E2734K p.S2025F p.E1315K | Nonsense Missense Missense Missense Missense | SNP SNP SNP SNP SNP | 0.279 0.385 0.504 0.240 0.471 | 2 | - | - |
DNAH6 | p.G574E p.P2312L | Missense Missense | SNP SNP | 0.423 0.436 | 2 | - | - |
DNAH7 | p.P1940S p.D1568N p.E483K p.P333S | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.220 0.227 0.466 0.443 | 2 | - | - |
DNAH9 | p.A1589T p.W1679* | Missense Nonsense | SNP SNP | 0.315 0.369 | 2 | - | - |
DNAJA1 | - | - | - | - | 0 | Del | - |
DNAJA2 | - | - | - | - | 1 | Loss | - |
DNAJA4 | - | - | - | - | 3 | Gain | - |
DNAJB11 | - | - | - | - | 3 | Gain | - |
DNAJB14 | - | - | - | - | 1 | Loss | - |
DNAJB4 | - | - | - | - | 3 | Gain | - |
DNAJB6 | - | - | - | - | 3 | Gain | - |
DNAJB7 | - | - | - | - | 3 | Gain | - |
DNAJB8 | - | - | - | - | 3 | Gain | - |
DNAJB9 | - | - | - | - | 3 | Gain | - |
DNAJC1 | - | - | - | - | 1 | Loss | - |
DNAJC13 | - | - | - | - | 3 | Gain | - |
DNAJC16 | p.S227F p.H530Y | Missense Missense | SNP SNP | 0.254 0.255 | 2 | - | - |
DNAJC17 | - | - | - | - | 1 | Loss | - |
DNAJC19 | - | - | - | - | 3 | Gain | - |
DNAJC2 | - | - | - | - | 3 | Gain | - |
DNAJC30 | - | - | - | - | 3 | Gain | - |
DNAJC5B | - | - | - | - | 3 | Gain | - |
DNAJC6 | - | - | - | - | 3 | Gain | - |
DNAL4 | - | - | - | - | 3 | Gain | - |
DNASE2B | - | - | - | - | 3 | Gain | - |
DNM2 | - | - | - | - | 3 | Gain | - |
DNM3 | - | - | - | - | 3 | Gain | - |
DNMT1 | - | - | - | - | 3 | Gain | - |
DNTTIP2 | - | - | - | - | 3 | Gain | - |
DOCK1 | p.L1750Q | Missense | DNP | 0.949 | 2 | - | - |
DOCK2 | p.X1763_splice | Splice_Site | SNP | 0.653 | 2 | - | - |
DOCK3 | p.X73_splice p.P494L | Splice_Site Missense | SNP SNP | 0.368 0.247 | 2 | - | - |
DOCK4 | p.P1327S | Missense | SNP | 0.157 | 3 | Gain | - |
DOCK5 | p.S1306L | Missense | SNP | 0.300 | 2 | - | - |
DOCK6 | p.D967N p.G655S | Missense Missense | SNP SNP | 0.219 0.400 | 3 | Gain | - |
DOCK7 | - | - | - | - | 3 | Gain | - |
DOCK8 | p.S1573F | Missense | SNP | 0.857 | 0 | Del | - |
DOK1 | p.P423F | Missense | DNP | 0.479 | 2 | - | - |
DOK4 | - | - | - | - | 1 | Loss | - |
DPCR1 | p.P1059L | Missense | SNP | 0.660 | ND | ND | - |
DPEP1 | - | - | - | - | 1 | Loss | - |
DPEP2 | - | - | - | - | 1 | Loss | - |
DPEP3 | - | - | - | - | 1 | Loss | - |
DPH5 | - | - | - | - | 3 | Gain | - |
DPH6 | - | - | - | - | 1 | Loss | - |
DPM3 | - | - | - | - | 3 | Gain | - |
DPP10 | p.R562Q | Missense | SNP | 0.472 | 2 | - | - |
DPP4 | p.S764F | Missense | SNP | 0.536 | 2 | - | - |
DPP6 | p.G37S | Missense | SNP | 0.126 | 3 | Gain | - |
DPP8 | - | - | - | - | 3 | Gain | - |
DPPA2 | - | - | - | - | 3 | Gain | - |
DPPA4 | p.E155K | Missense | SNP | 0.242 | 3 | Gain | - |
DPT | - | - | - | - | 3 | Gain | - |
DPY19L1 | - | - | - | - | 3 | Gain | - |
DPY19L4 | p.S435F | Missense | SNP | 0.556 | 3 | Gain | - |
DPYD | - | - | - | - | 3 | Gain | - |
DPYS | - | - | - | - | 3 | Gain | - |
DPYSL3 | p.G578R | Missense | SNP | 0.356 | 2 | - | - |
DPYSL5 | p.A199V | Missense | SNP | 0.283 | 2 | - | - |
DR1 | - | - | - | - | 3 | Gain | - |
DRAM1 | p.P149L | Missense | SNP | 0.174 | 2 | - | - |
DRC7 | - | - | - | - | 1 | Loss | - |
DRD3 | - | - | - | - | 3 | Gain | - |
DRD5 | p.G37E | Missense | SNP | 0.183 | 2 | - | - |
DRG1 | - | - | - | - | 3 | Gain | - |
DRGX | - | - | - | - | 1 | Loss | - |
DRICH1 | - | - | - | - | 3 | Gain | - |
DROSHA | - | - | - | - | 3 | Gain | - |
DSC2 | p.G263E | Missense | SNP | 0.491 | 2 | - | - |
DSC3 | p.E400K | Missense | SNP | 0.225 | 2 | - | - |
DSCAML1 | p.P315S | Missense | DNP | 0.597 | 2 | - | - |
DSCC1 | p.X309_splice | Splice_Site | SNP | 0.477 | 3 | Gain | - |
DSP | p.R1341C p.Y1465* | Missense Nonsense | DNP SNP | 0.324 0.630 | 2 | - | - |
DSPP | - | - | - | - | 1 | Loss | - |
DSTYK | - | - | - | - | 3 | Gain | - |
DTL | - | - | - | - | 3 | Gain | - |
DTNA | p.S60F | Missense | SNP | 0.254 | 2 | - | - |
DTWD1 | - | - | - | - | 1 | Loss | - |
DTX2 | - | - | - | - | 3 | Gain | - |
DTX3L | - | - | - | - | 3 | Gain | - |
DUOX1 | - | - | - | - | 1 | Loss | - |
DUOX2 | - | - | - | - | 1 | Loss | - |
DUOXA1 | - | - | - | - | 1 | Loss | - |
DUOXA2 | - | - | - | - | 1 | Loss | - |
DUS2 | - | - | - | - | 1 | Loss | - |
DUS4L | - | - | - | - | 3 | Gain | - |
DUSP10 | - | - | - | - | 3 | Gain | - |
DUSP12 | - | - | - | - | 3 | Gain | - |
DUSP18 | - | - | - | - | 3 | Gain | - |
DUSP21 | p.E64K | Missense | SNP | 0.978 | ND | ND | - |
DUSP23 | - | - | - | - | 3 | Gain | - |
DUSP27 | - | - | - | - | 3 | Gain | - |
DUT | - | - | - | - | 1 | Loss | - |
DUXB | - | - | - | - | 1 | Loss | - |
DVL3 | - | - | - | - | 3 | Gain | - |
DYNC1I1 | - | - | - | - | 3 | Gain | - |
DYNC1LI2 | - | - | - | - | 1 | Loss | - |
DYNC2H1 | p.E4142K | Missense | SNP | 0.293 | 2 | - | - |
DYNLRB2 | - | - | - | - | 1 | Loss | - |
DYRK3 | - | - | - | - | 3 | Gain | - |
DYTN | p.E75K | Missense | SNP | 0.204 | 2 | - | - |
DZIP1 | p.R417K | Missense | SNP | 0.261 | 2 | - | - |
DZIP1L | - | - | - | - | 3 | Gain | - |
DZIP3 | - | - | - | - | 3 | Gain | - |
E2F3 | p.L310P | Missense | SNP | 0.614 | 2 | - | - |
E2F4 | - | - | - | - | 1 | Loss | - |
E2F5 | p.S234R p.S235L | Missense Missense | SNP SNP | 0.473 0.469 | 3 | Gain | - |
EAF2 | - | - | - | - | 3 | Gain | - |
EBAG9 | - | - | - | - | 3 | Gain | - |
EBF4 | p.G76R | Missense | SNP | 0.483 | 2 | - | - |
EBLN1 | - | - | - | - | 1 | Loss | - |
EBLN2 | - | - | - | - | 3 | Gain | - |
ECE2 | p.R248Q | Missense | SNP | 0.192 | 3 | Gain | - |
ECHDC3 | - | - | - | - | 1 | Loss | - |
ECSIT | - | - | - | - | 3 | Gain | - |
ECT2 | - | - | - | - | 3 | Gain | - |
EDAR | p.H173R | Missense | SNP | 0.512 | 2 | - | - |
EDARADD | - | - | - | - | 3 | Gain | - |
EDC3 | - | - | - | - | 3 | Gain | - |
EDC4 | - | - | - | - | 1 | Loss | - |
EDEM3 | - | - | - | - | 3 | Gain | - |
EEF1AKMT1 | - | - | - | - | 3 | Gain | - |
EEF1AKMT4 | - | - | - | - | 3 | Gain | - |
EEF1AKMT4-ECE2 | - | - | - | - | 3 | Gain | - |
EEFSEC | - | - | - | - | 3 | Gain | - |
EEPD1 | - | - | - | - | 3 | Gain | - |
EFCAB10 | - | - | - | - | 3 | Gain | - |
EFCAB12 | p.E411K | Missense | SNP | 0.224 | 3 | Gain | - |
EFCAB2 | - | - | - | - | 3 | Gain | - |
EFCAB6 | p.N290S | Missense | SNP | 0.442 | 3 | Gain | - |
EFCAB7 | - | - | - | - | 3 | Gain | - |
EFCAB9 | p.S22F | Missense | SNP | 0.573 | 2 | - | - |
EFCC1 | p.G234R p.C429W | Missense Missense | SNP SNP | 0.240 0.239 | 3 | Gain | - |
EFL1 | - | - | - | - | 3 | Gain | - |
EFNA1 | - | - | - | - | 3 | Gain | - |
EFNA3 | - | - | - | - | 3 | Gain | - |
EFNA4 | - | - | - | - | 3 | Gain | - |
EGF | p.X110_splice | Splice_Site | SNP | 0.944 | 1 | Loss | - |
EGFLAM | - | - | - | - | 3 | Gain | - |
EGFR | - | - | - | - | 3 | Gain | - |
EGLN1 | - | - | - | - | 3 | Gain | - |
EHBP1 | p.P637L | Missense | SNP | 0.226 | 2 | - | - |
EHD4 | - | - | - | - | 1 | Loss | - |
EHHADH | - | - | - | - | 3 | Gain | - |
EID1 | - | - | - | - | 1 | Loss | - |
EIF2A | - | - | - | - | 3 | Gain | - |
EIF2AK1 | - | - | - | - | 3 | Gain | - |
EIF2AK2 | p.S242F | Missense | SNP | 0.247 | 2 | - | - |
EIF2AK4 | - | - | - | - | 1 | Loss | - |
EIF2B5 | - | - | - | - | 3 | Gain | - |
EIF2D | - | - | - | - | 3 | Gain | - |
EIF3B | - | - | - | - | 3 | Gain | - |
EIF3D | p.L509F | Missense | SNP | 0.562 | 3 | Gain | - |
EIF3E | - | - | - | - | 3 | Gain | - |
EIF3G | - | - | - | - | 3 | Gain | - |
EIF3H | - | - | - | - | 3 | Gain | - |
EIF3J | - | - | - | - | 1 | Loss | - |
EIF3L | - | - | - | - | 3 | Gain | - |
EIF4A2 | p.Q202* | Nonsense | SNP | 0.471 | 3 | Gain | - |
EIF4E | - | - | - | - | 1 | Loss | - |
EIF4E3 | - | - | - | - | 3 | Gain | - |
EIF4ENIF1 | - | - | - | - | 3 | Gain | - |
EIF4G1 | p.T674A | Missense | SNP | 0.453 | 3 | Gain | - |
EIF4H | - | - | - | - | 3 | Gain | - |
EIF5A2 | - | - | - | - | 3 | Gain | - |
ELAVL2 | - | - | - | - | 0 | Del | - |
ELAVL3 | - | - | - | - | 3 | Gain | - |
ELAVL4 | p.X120_splice | Splice_Site | SNP | 0.706 | 2 | - | - |
ELF3 | - | - | - | - | 3 | Gain | - |
ELFN1 | - | - | - | - | 3 | Gain | - |
ELFN2 | p.E719K | Missense | SNP | 0.475 | 3 | Gain | - |
ELK4 | - | - | - | - | 3 | Gain | - |
ELL3 | - | - | - | - | 1 | Loss | - |
ELMO1 | - | - | - | - | 3 | Gain | - |
ELMO3 | - | - | - | - | 1 | Loss | - |
ELN | - | - | - | - | 3 | Gain | - |
ELOC | - | - | - | - | 3 | Gain | - |
ELOF1 | - | - | - | - | 3 | Gain | - |
ELOVL6 | - | - | - | - | 1 | Loss | - |
EMB | - | - | - | - | 3 | Gain | - |
EMC2 | - | - | - | - | 3 | Gain | - |
EMC4 | - | - | - | - | 1 | Loss | - |
EMC7 | - | - | - | - | 1 | Loss | - |
EMC8 | - | - | - | - | 1 | Loss | - |
EMCN | - | - | - | - | 1 | Loss | - |
EMID1 | - | - | - | - | 3 | Gain | - |
EML4 | p.A289V | Missense | SNP | 0.273 | 2 | - | - |
EN2 | - | - | - | - | 3 | Gain | - |
ENAH | - | - | - | - | 3 | Gain | - |
ENKD1 | - | - | - | - | 1 | Loss | - |
ENKUR | - | - | - | - | 1 | Loss | - |
ENOPH1 | - | - | - | - | 1 | Loss | - |
ENOX2 | p.R237C | Missense | SNP | 0.957 | ND | ND | - |
ENPEP | - | - | - | - | 1 | Loss | - |
ENPP2 | - | - | - | - | 3 | Gain | - |
ENTHD1 | - | - | - | - | 3 | Gain | - |
ENTPD3 | p.E483K | Missense | SNP | 0.165 | 2 | - | - |
ENY2 | - | - | - | - | 3 | Gain | - |
EOGT | - | - | - | - | 3 | Gain | - |
EP300 | p.P2064L | Missense | SNP | 0.533 | 3 | Gain | - |
EP400 | p.S2650F p.Q2704* | Missense Nonsense | SNP SNP | 0.480 0.420 | 2 | - | - |
EPAS1 | p.P599L | Missense | SNP | 0.446 | 2 | - | - |
EPB41L4A | p.M374I | Missense | SNP | 0.575 | 2 | - | - |
EPB42 | - | - | - | - | 1 | Loss | - |
EPC1 | - | - | - | - | 1 | Loss | - |
EPDR1 | - | - | - | - | 3 | Gain | - |
EPHA1 | - | - | - | - | 3 | Gain | - |
EPHA3 | p.A272T | Missense | SNP | 0.457 | 3 | Gain | - |
EPHA4 | p.W348* | Nonsense | SNP | 0.431 | 2 | - | - |
EPHA6 | p.D770N | Missense | SNP | 0.505 | 3 | Gain | - |
EPHA7 | p.S287F | Missense | SNP | 0.245 | 2 | - | - |
EPHB1 | - | - | - | - | 3 | Gain | - |
EPHB2 | p.R311K | Missense | SNP | 0.253 | 2 | - | - |
EPHB3 | - | - | - | - | 3 | Gain | - |
EPHB4 | - | - | - | - | 3 | Gain | - |
EPHB6 | - | - | - | - | 3 | Gain | - |
EPHX1 | - | - | - | - | 3 | Gain | - |
EPHX2 | p.E444K | Missense | SNP | 0.350 | 2 | - | - |
EPHX4 | - | - | - | - | 3 | Gain | - |
EPO | - | - | - | - | 3 | Gain | - |
EPOR | - | - | - | - | 3 | Gain | - |
EPRS | - | - | - | - | 3 | Gain | - |
EPX | p.P269S | Missense | SNP | 0.368 | 2 | - | - |
EQTN | - | - | - | - | 0 | Del | - |
ERC2 | p.K776* p.R88* | Nonsense Nonsense | SNP SNP | 0.439 0.481 | 2 | - | - |
ERCC6 | - | - | - | - | 1 | Loss | - |
ERICH3 | p.E978K | Missense | SNP | 0.781 | 3 | Gain | - |
ERICH5 | - | - | - | - | 3 | Gain | - |
ERICH6 | - | - | - | - | 3 | Gain | - |
ERICH6B | p.E125K | Missense | SNP | 0.242 | 2 | - | - |
ERMP1 | - | - | - | - | 0 | Del | - |
ERO1B | - | - | - | - | 3 | Gain | - |
ERV3-1 | - | - | - | - | 3 | Gain | - |
ESM1 | - | - | - | - | 3 | Gain | - |
ESPL1 | p.P308S | Missense | SNP | 0.283 | 2 | - | - |
ESRP1 | - | - | - | - | 3 | Gain | - |
ESRP2 | - | - | - | - | 1 | Loss | - |
ESRRG | - | - | - | - | 3 | Gain | - |
ESS2 | - | - | - | - | 3 | Gain | - |
ESYT2 | - | - | - | - | 3 | Gain | - |
ESYT3 | - | - | - | - | 3 | Gain | - |
ETFA | - | - | - | - | 3 | Gain | - |
ETNK2 | - | - | - | - | 3 | Gain | - |
ETNPPL | - | - | - | - | 1 | Loss | - |
ETV1 | - | - | - | - | 3 | Gain | - |
ETV3 | - | - | - | - | 3 | Gain | - |
ETV3L | - | - | - | - | 3 | Gain | - |
ETV5 | - | - | - | - | 3 | Gain | - |
ETV6 | p.L117F | Missense | SNP | 0.317 | 2 | - | - |
EVI5 | - | - | - | - | 3 | Gain | - |
EVX1 | - | - | - | - | 3 | Gain | - |
EWSR1 | - | - | - | - | 3 | Gain | - |
EXD1 | p.G386R | Missense | SNP | 0.942 | 1 | Loss | - |
EXO1 | - | - | - | - | 3 | Gain | - |
EXOC1 | p.S491F | Missense | SNP | 0.428 | 2 | - | - |
EXOC3L1 | - | - | - | - | 1 | Loss | - |
EXOC4 | - | - | - | - | 3 | Gain | - |
EXOC8 | - | - | - | - | 3 | Gain | - |
EXOSC10 | p.P67S | Missense | SNP | 0.263 | 2 | - | - |
EXOSC2 | p.P13L | Missense | SNP | 0.281 | 2 | - | - |
EXOSC6 | - | - | - | - | 1 | Loss | - |
EXOSC9 | - | - | - | - | 1 | Loss | - |
EXT1 | - | - | - | - | 3 | Gain | - |
EXTL2 | - | - | - | - | 3 | Gain | - |
EYA1 | - | - | - | - | 3 | Gain | - |
EYA4 | p.D404N | Missense | SNP | 0.321 | 2 | - | - |
EZH2 | - | - | - | - | 3 | Gain | - |
F11R | - | - | - | - | 3 | Gain | - |
F13B | p.M403I | Missense | SNP | 0.150 | 3 | Gain | - |
F3 | - | - | - | - | 3 | Gain | - |
F5 | p.Q960* | Nonsense | SNP | 0.377 | 3 | Gain | - |
F9 | p.E259K | Missense | SNP | 0.459 | ND | ND | - |
FA2H | - | - | - | - | 1 | Loss | - |
FABP12 | - | - | - | - | 3 | Gain | - |
FABP2 | - | - | - | - | 1 | Loss | - |
FABP4 | - | - | - | - | 3 | Gain | - |
FABP5 | - | - | - | - | 3 | Gain | - |
FABP9 | - | - | - | - | 3 | Gain | - |
FAH | - | - | - | - | 3 | Gain | - |
FAIM | - | - | - | - | 3 | Gain | - |
FAM107B | - | - | - | - | 1 | Loss | - |
FAM118A | - | - | - | - | 3 | Gain | - |
FAM126A | - | - | - | - | 3 | Gain | - |
FAM129A | - | - | - | - | 3 | Gain | - |
FAM131A | - | - | - | - | 3 | Gain | - |
FAM131B | - | - | - | - | 3 | Gain | - |
FAM133B | - | - | - | - | 4 | Gain | - |
FAM13A | - | - | - | - | 1 | Loss | - |
FAM13C | - | - | - | - | 1 | Loss | - |
FAM151B | p.S238F | Missense | SNP | 0.262 | 2 | - | - |
FAM160A1 | - | - | - | - | 1 | Loss | - |
FAM162A | - | - | - | - | 3 | Gain | - |
FAM163A | - | - | - | - | 3 | Gain | - |
FAM169B | - | - | - | - | 3 | Gain | - |
FAM170B | - | - | - | - | 1 | Loss | - |
FAM171A1 | - | - | - | - | 1 | Loss | - |
FAM174B | - | - | - | - | 3 | Gain | - |
FAM177B | - | - | - | - | 3 | Gain | - |
FAM179A | p.G153E | Missense | SNP | 0.409 | ND | ND | - |
FAM180A | - | - | - | - | 3 | Gain | - |
FAM185A | - | - | - | - | 3 | Gain | - |
FAM189B | - | - | - | - | 3 | Gain | - |
FAM192A | - | - | - | - | 1 | Loss | - |
FAM19A1 | - | - | - | - | 3 | Gain | - |
FAM19A4 | - | - | - | - | 3 | Gain | - |
FAM19A5 | - | - | - | - | 3 | Gain | - |
FAM200A | - | - | - | - | 3 | Gain | - |
FAM208B | - | - | - | - | 1 | Loss | - |
FAM20B | - | - | - | - | 3 | Gain | - |
FAM20C | - | - | - | - | 3 | Gain | - |
FAM214A | - | - | - | - | 3 | Gain | - |
FAM219B | - | - | - | - | 3 | Gain | - |
FAM220A | - | - | - | - | 3 | Gain | - |
FAM221A | - | - | - | - | 3 | Gain | - |
FAM227A | p.P410S | Missense | SNP | 0.384 | 3 | Gain | - |
FAM227B | - | - | - | - | 1 | Loss | - |
FAM240B | - | - | - | - | 1 | Loss | - |
FAM241A | - | - | - | - | 1 | Loss | - |
FAM3C | - | - | - | - | 3 | Gain | - |
FAM43A | - | - | - | - | 3 | Gain | - |
FAM47C | p.G770R p.S894F | Missense Missense | SNP SNP | 0.504 0.486 | ND | ND | - |
FAM47E | - | - | - | - | 1 | Loss | - |
FAM47E-STBD1 | - | - | - | - | 1 | Loss | - |
FAM69A | - | - | - | - | 3 | Gain | - |
FAM71A | - | - | - | - | 3 | Gain | - |
FAM71F1 | - | - | - | - | 3 | Gain | - |
FAM71F2 | - | - | - | - | 3 | Gain | - |
FAM78B | - | - | - | - | 3 | Gain | - |
FAM81A | - | - | - | - | 3 | Gain | - |
FAM83A | - | - | - | - | 3 | Gain | - |
FAM83F | p.L442F | Missense | SNP | 0.230 | 3 | Gain | - |
FAM84A | p.S97F | Missense | SNP | 0.207 | 2 | - | - |
FAM84B | p.V167I | Missense | SNP | 0.222 | 2 | - | - |
FAM89A | - | - | - | - | 3 | Gain | - |
FAM92A | - | - | - | - | 3 | Gain | - |
FAM92B | - | - | - | - | 1 | Loss | - |
FAM95C | - | - | - | - | 1 | Loss | - |
FAM98B | - | - | - | - | 1 | Loss | - |
FANCA | - | - | - | - | 1 | Loss | - |
FANCI | - | - | - | - | 3 | Gain | - |
FARSA | p.P45S | Missense | SNP | 0.500 | 2 | - | - |
FASLG | - | - | - | - | 3 | Gain | - |
FASTK | p.G84R | Missense | SNP | 0.342 | 3 | Gain | - |
FAT1 | p.S4272F | Missense | SNP | 0.182 | 2 | - | - |
FAT3 | p.S239F p.G618E p.G1858E | Missense Missense Missense | SNP SNP SNP | 0.675 0.321 0.600 | 2 | - | - |
FBH1 | - | - | - | - | 1 | Loss | - |
FBLN1 | - | - | - | - | 3 | Gain | - |
FBLN5 | p.P70S | Missense | SNP | 0.257 | 2 | - | - |
FBN1 | - | - | - | - | 1 | Loss | - |
FBXL13 | - | - | - | - | 3 | Gain | - |
FBXL18 | - | - | - | - | 3 | Gain | - |
FBXL22 | - | - | - | - | 3 | Gain | - |
FBXL8 | - | - | - | - | 1 | Loss | - |
FBXO18 | p.R754W | Missense | SNP | 0.927 | ND | ND | - |
FBXO22 | - | - | - | - | 3 | Gain | - |
FBXO24 | - | - | - | - | 3 | Gain | - |
FBXO28 | - | - | - | - | 3 | Gain | - |
FBXO31 | - | - | - | - | 1 | Loss | - |
FBXO38 | p.P273S | Missense | SNP | 0.334 | 2 | - | - |
FBXO4 | - | - | - | - | 3 | Gain | - |
FBXO40 | - | - | - | - | 3 | Gain | - |
FBXO43 | - | - | - | - | 3 | Gain | - |
FBXO45 | - | - | - | - | 3 | Gain | - |
FBXO7 | - | - | - | - | 3 | Gain | - |
FBXW11 | p.R414C | Missense | SNP | 0.246 | 2 | - | - |
FBXW7 | - | - | - | - | 1 | Loss | - |
FCAMR | p.P312L | Missense | SNP | 0.358 | 3 | Gain | - |
FCER1A | - | - | - | - | 3 | Gain | - |
FCER1G | - | - | - | - | 3 | Gain | - |
FCGR1B | p.R222K | Missense | SNP | 0.232 | 2 | - | - |
FCGR2A | - | - | - | - | 3 | Gain | - |
FCGR2B | - | - | - | - | 3 | Gain | - |
FCGR2C | - | - | - | - | 3 | Gain | - |
FCGR3A | - | - | - | - | 3 | Gain | - |
FCGR3B | - | - | - | - | 3 | Gain | - |
FCMR | p.R187C | Missense | SNP | 0.194 | 3 | Gain | - |
FCRL1 | - | - | - | - | 3 | Gain | - |
FCRL2 | - | - | - | - | 3 | Gain | - |
FCRL3 | - | - | - | - | 3 | Gain | - |
FCRL4 | - | - | - | - | 3 | Gain | - |
FCRL5 | - | - | - | - | 3 | Gain | - |
FCRL6 | - | - | - | - | 3 | Gain | - |
FCRLA | - | - | - | - | 3 | Gain | - |
FCRLB | - | - | - | - | 3 | Gain | - |
FDPS | - | - | - | - | 3 | Gain | - |
FDX2 | - | - | - | - | 3 | Gain | - |
FEM1B | - | - | - | - | 3 | Gain | - |
FERD3L | - | - | - | - | 3 | Gain | - |
FES | - | - | - | - | 3 | Gain | - |
FETUB | - | - | - | - | 3 | Gain | - |
FEZF1 | - | - | - | - | 3 | Gain | - |
FEZF2 | - | - | - | - | 3 | Gain | - |
FFAR4 | p.S206W | Missense | SNP | 0.448 | 2 | - | - |
FGA | - | - | - | - | 1 | Loss | - |
FGB | - | - | - | - | 1 | Loss | - |
FGD5 | p.M1169I | Missense | SNP | 0.468 | 2 | - | - |
FGF10 | - | - | - | - | 3 | Gain | - |
FGF12 | - | - | - | - | 3 | Gain | - |
FGF2 | - | - | - | - | 1 | Loss | - |
FGF5 | - | - | - | - | 1 | Loss | - |
FGF7 | - | - | - | - | 1 | Loss | - |
FGFR4 | p.P689S | Missense | SNP | 0.333 | 2 | - | - |
FGG | - | - | - | - | 1 | Loss | - |
FGGY | - | - | - | - | 3 | Gain | - |
FGL2 | - | - | - | - | 3 | Gain | - |
FH | - | - | - | - | 3 | Gain | - |
FHDC1 | - | - | - | - | 1 | Loss | - |
FHL5 | p.K19N | Missense | SNP | 0.618 | 2 | - | - |
FHOD1 | - | - | - | - | 1 | Loss | - |
FIGNL1 | - | - | - | - | 3 | Gain | - |
FILIP1L | - | - | - | - | 3 | Gain | - |
FIS1 | - | - | - | - | 3 | Gain | - |
FKBP14 | - | - | - | - | 3 | Gain | - |
FKBP6 | - | - | - | - | 3 | Gain | - |
FKBP9 | - | - | - | - | 3 | Gain | - |
FLAD1 | - | - | - | - | 3 | Gain | - |
FLNC | - | - | - | - | 3 | Gain | - |
FLOT1 | - | - | - | - | 2 | - | SNHG12--FLOT1 |
FLT4 | p.D1061G | Missense | SNP | 0.592 | 2 | - | - |
FLVCR1 | - | - | - | - | 3 | Gain | - |
FMC1 | - | - | - | - | 3 | Gain | - |
FMN1 | - | - | - | - | 1 | Loss | - |
FMN2 | p.P1208S | Missense | SNP | 0.764 | 3 | Gain | - |
FMO1 | - | - | - | - | 3 | Gain | - |
FMO2 | - | - | - | - | 3 | Gain | - |
FMO3 | - | - | - | - | 3 | Gain | - |
FMO4 | - | - | - | - | 3 | Gain | - |
FMOD | - | - | - | - | 3 | Gain | - |
FNBP1L | - | - | - | - | 3 | Gain | - |
FNDC3B | - | - | - | - | 3 | Gain | - |
FNDC7 | p.S76F | Missense | SNP | 0.296 | 2 | - | - |
FO681492.1 | - | - | - | - | 1 | Loss | - |
FOCAD | - | - | - | - | 0 | Del | - |
FOLH1 | p.X480_splice | Splice_Site | SNP | 0.603 | 2 | - | - |
FOXA3 | p.P250S | Missense | SNP | 0.300 | 2 | - | - |
FOXB1 | - | - | - | - | 3 | Gain | - |
FOXC2 | - | - | - | - | 1 | Loss | - |
FOXD3 | - | - | - | - | 3 | Gain | - |
FOXF1 | - | - | - | - | 1 | Loss | - |
FOXK1 | - | - | - | - | 3 | Gain | - |
FOXL1 | - | - | - | - | 1 | Loss | - |
FOXL2 | - | - | - | - | 3 | Gain | - |
FOXL2NB | - | - | - | - | 3 | Gain | - |
FOXM1 | p.Y129* | Nonsense | SNP | 0.352 | 2 | - | - |
FOXP1 | - | - | - | - | 3 | Gain | - |
FOXP2 | - | - | - | - | 3 | Gain | - |
FOXRED2 | - | - | - | - | 3 | Gain | - |
FPGT | - | - | - | - | 3 | Gain | - |
FPGT-TNNI3K | - | - | - | - | 3 | Gain | - |
FPR3 | p.P8L | Missense | SNP | 0.391 | 2 | - | - |
FRAS1 | - | - | - | - | 1 | Loss | - |
FREM1 | - | - | - | - | 0 | Del | - |
FRG2C | - | - | - | - | 3 | Gain | - |
FRMD4A | - | - | - | - | 1 | Loss | - |
FRMD4B | - | - | - | - | 3 | Gain | - |
FRMD5 | - | - | - | - | 1 | Loss | - |
FRMPD2 | - | - | - | - | 1 | Loss | - |
FRRS1 | - | - | - | - | 3 | Gain | - |
FSBP | - | - | - | - | 3 | Gain | - |
FSCB | p.S186L | Missense | SNP | 0.322 | 2 | - | - |
FSCN1 | - | - | - | - | 3 | Gain | - |
FSCN2 | p.D285N | Missense | SNP | 0.290 | 2 | - | - |
FSCN3 | - | - | - | - | 3 | Gain | - |
FSD2 | - | - | - | - | 3 | Gain | - |
FSHR | p.G670D | Missense | SNP | 0.470 | 2 | - | - |
FSIP1 | - | - | - | - | 1 | Loss | - |
FSIP2 | p.R626K p.E930K | Missense Missense | SNP SNP | 0.494 0.292 | 2 | - | - |
FST | - | - | - | - | 3 | Gain | - |
FSTL1 | - | - | - | - | 3 | Gain | - |
FTO | - | - | - | - | 1 | Loss | - |
FUBP1 | - | - | - | - | 3 | Gain | - |
FUK | - | - | - | - | 1 | Loss | - |
FURIN | - | - | - | - | 3 | Gain | - |
FUT3 | p.G275D p.P61L | Missense Missense | SNP SNP | 0.281 0.390 | 2 | - | - |
FUT9 | p.D339N | Missense | SNP | 0.702 | 2 | - | - |
FXR1 | - | - | - | - | 3 | Gain | - |
FXYD4 | - | - | - | - | 1 | Loss | - |
FYB1 | - | - | - | - | 3 | Gain | - |
FYTTD1 | - | - | - | - | 3 | Gain | - |
FZD1 | - | - | - | - | 3 | Gain | - |
FZD10 | p.P547L | Missense | SNP | 0.264 | 2 | - | - |
FZD6 | - | - | - | - | 3 | Gain | - |
FZD8 | - | - | - | - | 1 | Loss | - |
FZD9 | - | - | - | - | 3 | Gain | - |
G0S2 | - | - | - | - | 3 | Gain | - |
G3BP2 | - | - | - | - | 1 | Loss | - |
GAB4 | - | - | - | - | 3 | Gain | - |
GABARAPL2 | - | - | - | - | 1 | Loss | - |
GABPB1 | - | - | - | - | 1 | Loss | - |
GABRG2 | p.R419W | Missense | SNP | 0.319 | 2 | - | - |
GABRR3 | - | - | - | - | 3 | Gain | - |
GAD2 | p.P401S | Missense | DNP | 0.323 | 1 | Loss | - |
GADD45A | - | - | - | - | 3 | Gain | - |
GAGE1 | p.G94E | Missense | SNP | 0.310 | ND | ND | - |
GAL3ST1 | - | - | - | - | 3 | Gain | - |
GAL3ST3 | p.P53F | Missense | DNP | 0.368 | 2 | - | - |
GAL3ST4 | - | - | - | - | 3 | Gain | - |
GALK2 | - | - | - | - | 1 | Loss | - |
GALNS | - | - | - | - | 1 | Loss | - |
GALNT11 | - | - | - | - | 3 | Gain | - |
GALNT17 | - | - | - | - | 3 | Gain | - |
GALNT2 | - | - | - | - | 3 | Gain | - |
GALNT9 | p.S7F | Missense | DNP | 0.239 | 2 | - | - |
GALNTL5 | - | - | - | - | 3 | Gain | - |
GALR3 | - | - | - | - | 3 | Gain | - |
GAN | - | - | - | - | 1 | Loss | - |
GANC | - | - | - | - | 1 | Loss | - |
GAP43 | - | - | - | - | 3 | Gain | - |
GAPT | - | - | - | - | 3 | Gain | - |
GAR1 | - | - | - | - | 1 | Loss | - |
GARS | - | - | - | - | 3 | Gain | - |
GAS2L1 | - | - | - | - | 3 | Gain | - |
GAS8 | - | - | - | - | 1 | Loss | - |
GATA2 | - | - | - | - | 3 | Gain | - |
GATA3 | - | - | - | - | 1 | Loss | - |
GATAD1 | - | - | - | - | 4 | Gain | - |
GATAD2B | - | - | - | - | 3 | Gain | - |
GATB | - | - | - | - | 1 | Loss | - |
GATM | - | - | - | - | 1 | Loss | - |
GATSL2 | p.P93L | Missense | SNP | 0.434 | ND | ND | - |
GBA | - | - | - | - | 3 | Gain | - |
GBA3 | p.D105N p.H201Y | Missense Missense | SNP SNP | 0.191 0.358 | 2 | - | - |
GBE1 | p.S111L | Missense | SNP | 0.479 | 3 | Gain | - |
GBP1 | - | - | - | - | 3 | Gain | - |
GBP2 | - | - | - | - | 3 | Gain | - |
GBP3 | - | - | - | - | 3 | Gain | - |
GBP4 | - | - | - | - | 3 | Gain | - |
GBP5 | - | - | - | - | 3 | Gain | - |
GBP6 | - | - | - | - | 3 | Gain | - |
GBP7 | - | - | - | - | 3 | Gain | - |
GBX1 | - | - | - | - | 3 | Gain | - |
GC | p.D355N | Missense | SNP | 0.449 | 2 | - | - |
GCAT | - | - | - | - | 3 | Gain | - |
GCC1 | - | - | - | - | 3 | Gain | - |
GCHFR | - | - | - | - | 1 | Loss | - |
GCK | p.E52K | Missense | SNP | 0.214 | 3 | Gain | - |
GCLM | - | - | - | - | 3 | Gain | - |
GCM1 | p.E386K p.P282L | Missense Missense | SNP SNP | 0.642 0.354 | 2 | - | - |
GCN1 | - | - | - | - | 3 | Gain | - |
GCNT3 | - | - | - | - | 3 | Gain | - |
GCNT4 | p.S201F | Missense | SNP | 0.615 | 2 | - | - |
GCOM1 | - | - | - | - | 3 | Gain | - |
GCSAM | - | - | - | - | 3 | Gain | - |
GCSAML | - | - | - | - | 3 | Gain | - |
GCSAML-AS1 | - | - | - | - | 3 | Gain | - |
GCSH | - | - | - | - | 1 | Loss | - |
GDAP1 | - | - | - | - | 3 | Gain | - |
GDF10 | - | - | - | - | 1 | Loss | - |
GDF2 | - | - | - | - | 1 | Loss | - |
GDF6 | - | - | - | - | 3 | Gain | - |
GDI2 | - | - | - | - | 1 | Loss | - |
GDNF | - | - | - | - | 3 | Gain | - |
GDPGP1 | - | - | - | - | 3 | Gain | - |
GEM | - | - | - | - | 3 | Gain | - |
GET4 | - | - | - | - | 3 | Gain | - |
GFI1 | - | - | - | - | 3 | Gain | - |
GFM1 | - | - | - | - | 3 | Gain | - |
GFOD2 | - | - | - | - | 1 | Loss | - |
GFRA3 | p.H63Y | Missense | SNP | 0.355 | 2 | - | - |
GGA1 | - | - | - | - | 3 | Gain | - |
GGCT | - | - | - | - | 3 | Gain | - |
GGH | - | - | - | - | 3 | Gain | - |
GGPS1 | - | - | - | - | 3 | Gain | - |
GGT1 | - | - | - | - | 3 | Gain | - |
GGT2 | - | - | - | - | 3 | Gain | - |
GGT5 | p.Y573F | Missense | SNP | 0.191 | 3 | Gain | - |
GGTLC2 | - | - | - | - | 3 | Gain | - |
GHR | - | - | - | - | 3 | Gain | - |
GHRHR | - | - | - | - | 3 | Gain | - |
GHSR | - | - | - | - | 3 | Gain | - |
GIGYF1 | - | - | - | - | 3 | Gain | - |
GIMAP1 | - | - | - | - | 3 | Gain | - |
GIMAP1-GIMAP5 | - | - | - | - | 3 | Gain | - |
GIMAP2 | - | - | - | - | 3 | Gain | - |
GIMAP4 | p.S100F | Missense | SNP | 0.564 | 3 | Gain | - |
GIMAP5 | - | - | - | - | 3 | Gain | - |
GIMAP6 | p.V199M | Missense | SNP | 0.136 | 3 | Gain | - |
GIMAP7 | - | - | - | - | 3 | Gain | - |
GIMAP8 | - | - | - | - | 3 | Gain | - |
GIMD1 | - | - | - | - | 1 | Loss | - |
GINS2 | - | - | - | - | 1 | Loss | - |
GINS3 | - | - | - | - | 1 | Loss | - |
GIPC2 | - | - | - | - | 3 | Gain | - |
GJA10 | p.D132N | Missense | SNP | 0.379 | 2 | - | - |
GJA3 | - | - | - | - | 3 | Gain | - |
GJB2 | - | - | - | - | 3 | Gain | - |
GJB6 | - | - | - | - | 3 | Gain | - |
GJC2 | - | - | - | - | 3 | Gain | - |
GJC3 | - | - | - | - | 3 | Gain | - |
GJD2 | - | - | - | - | 1 | Loss | - |
GJD4 | - | - | - | - | 1 | Loss | - |
GK2 | - | - | - | - | 1 | Loss | - |
GK5 | - | - | - | - | 3 | Gain | - |
GLCCI1 | - | - | - | - | 3 | Gain | - |
GLCE | - | - | - | - | 3 | Gain | - |
GLDC | - | - | - | - | 0 | Del | - |
GLDN | - | - | - | - | 1 | Loss | - |
GLG1 | - | - | - | - | 1 | Loss | - |
GLI2 | p.S388F p.D856N p.P1547L | Missense Missense Missense | SNP SNP SNP | 0.247 0.201 0.454 | 2 | - | - |
GLI3 | - | - | - | - | 3 | Gain | - |
GLIS3 | - | - | - | - | 0 | Del | - |
GLMN | - | - | - | - | 3 | Gain | - |
GLMP | - | - | - | - | 3 | Gain | - |
GLOD4 | p.S31F | Missense | SNP | 0.583 | 2 | - | - |
GLRB | p.W139* | Nonsense | SNP | 0.478 | 2 | - | - |
GLRX2 | - | - | - | - | 3 | Gain | - |
GLS | p.S482F | Missense | SNP | 0.468 | 2 | - | - |
GLT8D1 | - | - | - | - | 3 | Gain | - |
GLUL | - | - | - | - | 3 | Gain | - |
GMNC | - | - | - | - | 3 | Gain | - |
GMPS | - | - | - | - | 3 | Gain | - |
GNA12 | - | - | - | - | 3 | Gain | - |
GNAI1 | - | - | - | - | 3 | Gain | - |
GNAO1 | - | - | - | - | 1 | Loss | - |
GNAT3 | - | - | - | - | 3 | Gain | - |
GNAZ | - | - | - | - | 3 | Gain | - |
GNB1L | - | - | - | - | 3 | Gain | - |
GNB2 | - | - | - | - | 3 | Gain | - |
GNB4 | - | - | - | - | 3 | Gain | - |
GNB5 | - | - | - | - | 1 | Loss | - |
GNG11 | - | - | - | - | 4 | Gain | - |
GNG12 | - | - | - | - | 3 | Gain | - |
GNG4 | - | - | - | - | 3 | Gain | - |
GNG5 | - | - | - | - | 3 | Gain | - |
GNGT1 | - | - | - | - | 4 | Gain | - |
GNL3 | - | - | - | - | 3 | Gain | - |
GNPAT | - | - | - | - | 3 | Gain | - |
GOLGA4 | p.P101S | Missense | SNP | 0.225 | 2 | - | - |
GOLGA6B | - | - | - | - | 3 | Gain | - |
GOLGA8A | - | - | - | - | 1 | Loss | - |
GOLGA8B | - | - | - | - | 1 | Loss | - |
GOLGB1 | p.D21G | Missense | SNP | 0.458 | 3 | Gain | - |
GOLIM4 | - | - | - | - | 3 | Gain | - |
GOLPH3 | - | - | - | - | 3 | Gain | - |
GOLT1A | - | - | - | - | 3 | Gain | - |
GON4L | - | - | - | - | 3 | Gain | - |
GORAB | - | - | - | - | 3 | Gain | - |
GOT2 | - | - | - | - | 1 | Loss | - |
GP1BB | - | - | - | - | 3 | Gain | - |
GP2 | p.R112Q | Missense | SNP | 0.176 | 2 | - | - |
GP5 | - | - | - | - | 3 | Gain | - |
GP9 | - | - | - | - | 3 | Gain | - |
GPA33 | - | - | - | - | 3 | Gain | - |
GPAT3 | - | - | - | - | 1 | Loss | - |
GPATCH2 | - | - | - | - | 3 | Gain | - |
GPATCH3 | p.D291N | Missense | SNP | 0.210 | 2 | - | - |
GPATCH4 | - | - | - | - | 3 | Gain | - |
GPBP1 | - | - | - | - | 3 | Gain | - |
GPC2 | - | - | - | - | 3 | Gain | - |
GPC5 | p.G506R | Missense | SNP | 0.358 | 2 | - | - |
GPER1 | - | - | - | - | 3 | Gain | - |
GPLD1 | p.M126I | Missense | SNP | 0.356 | 2 | - | - |
GPM6A | p.M77I | Missense | SNP | 0.470 | 2 | - | - |
GPNMB | - | - | - | - | 3 | Gain | - |
GPR137B | - | - | - | - | 3 | Gain | - |
GPR141 | p.G156E p.E267K | Missense Missense | SNP SNP | 0.451 0.172 | 3 | Gain | - |
GPR146 | - | - | - | - | 3 | Gain | - |
GPR149 | - | - | - | - | 3 | Gain | - |
GPR15 | - | - | - | - | 3 | Gain | - |
GPR156 | - | - | - | - | 3 | Gain | - |
GPR158 | - | - | - | - | 1 | Loss | - |
GPR160 | - | - | - | - | 3 | Gain | - |
GPR161 | - | - | - | - | 3 | Gain | - |
GPR171 | - | - | - | - | 3 | Gain | - |
GPR176 | - | - | - | - | 1 | Loss | - |
GPR179 | p.G1765E | Missense | SNP | 0.296 | 2 | - | - |
GPR22 | - | - | - | - | 3 | Gain | - |
GPR25 | - | - | - | - | 3 | Gain | - |
GPR27 | - | - | - | - | 3 | Gain | - |
GPR37 | - | - | - | - | 3 | Gain | - |
GPR37L1 | - | - | - | - | 3 | Gain | - |
GPR52 | p.V208D | Missense | SNP | 0.378 | 4 | Gain | - |
GPR65 | p.G50E | Missense | SNP | 0.298 | 2 | - | - |
GPR83 | p.A325V | Missense | SNP | 0.638 | 2 | - | - |
GPR85 | - | - | - | - | 3 | Gain | - |
GPR87 | - | - | - | - | 3 | Gain | - |
GPR88 | - | - | - | - | 3 | Gain | - |
GPRASP2 | p.S485F | Missense | SNP | 0.977 | ND | ND | - |
GPRC6A | p.T710N | Missense | SNP | 0.317 | 2 | - | - |
GPRIN2 | - | - | - | - | 1 | Loss | - |
GPRIN3 | - | - | - | - | 1 | Loss | - |
GPT | p.E305K | Missense | DNP | 0.513 | 2 | - | - |
GPT2 | - | - | - | - | 1 | Loss | - |
GPX8 | - | - | - | - | 3 | Gain | - |
GRAMD1C | - | - | - | - | 3 | Gain | - |
GRAMD2A | - | - | - | - | 3 | Gain | - |
GRAMD4 | p.S28L p.M205I | Missense Missense | SNP SNP | 0.233 0.371 | 3 | Gain | - |
GRAP2 | - | - | - | - | 3 | Gain | - |
GRB10 | - | - | - | - | 3 | Gain | - |
GREM1 | - | - | - | - | 1 | Loss | - |
GREM2 | - | - | - | - | 3 | Gain | - |
GRHL2 | - | - | - | - | 3 | Gain | - |
GRIA4 | p.W16* | Nonsense | SNP | 0.255 | 2 | - | - |
GRID2 | - | - | - | - | 1 | Loss | - |
GRID2IP | - | - | - | - | 3 | Gain | - |
GRIFIN | - | - | - | - | 3 | Gain | - |
GRIK2 | p.P338S p.E808K | Missense Missense | SNP SNP | 0.308 0.288 | 2 | - | - |
GRIN2C | p.E329K | Missense | SNP | 0.333 | 2 | - | - |
GRIN3A | p.P882L p.Y432N p.E340K | Missense Missense Missense | SNP SNP SNP | 0.953 0.966 0.573 | 2 | - | - |
GRIN3B | p.W513* | Nonsense | SNP | 0.508 | 2 | - | - |
GRIP2 | p.T311I | Missense | SNP | 0.432 | 2 | - | - |
GRK3 | - | - | - | - | 3 | Gain | - |
GRK7 | - | - | - | - | 3 | Gain | - |
GRM3 | - | - | - | - | 3 | Gain | - |
GRM4 | p.R61K | Missense | SNP | 0.325 | 2 | - | - |
GRM5 | p.P83S | Missense | SNP | 0.232 | 2 | - | - |
GRM8 | p.P719L | Missense | SNP | 0.498 | 3 | Gain | - |
GRPR | p.A153V | Missense | SNP | 0.473 | ND | ND | - |
GSAP | - | - | - | - | 3 | Gain | - |
GSC2 | - | - | - | - | 3 | Gain | - |
GSDME | - | - | - | - | 3 | Gain | - |
GSE1 | - | - | - | - | 1 | Loss | - |
GSK3B | - | - | - | - | 3 | Gain | - |
GSTA1 | p.D42E | Missense | SNP | 0.282 | 2 | - | - |
GSTCD | - | - | - | - | 1 | Loss | - |
GSTK1 | - | - | - | - | 3 | Gain | - |
GSTM3 | p.P206L | Missense | SNP | 0.184 | 2 | - | - |
GSTT2 | - | - | - | - | 3 | Gain | - |
GSTT2B | - | - | - | - | 3 | Gain | - |
GSTT4 | - | - | - | - | 3 | Gain | - |
GTDC1 | p.P270S | Missense | SNP | 0.220 | 2 | - | - |
GTF2A2 | - | - | - | - | 3 | Gain | - |
GTF2B | - | - | - | - | 3 | Gain | - |
GTF2E1 | - | - | - | - | 3 | Gain | - |
GTF2I | - | - | - | - | 3 | Gain | - |
GTF2IRD1 | - | - | - | - | 3 | Gain | - |
GTF2IRD2 | - | - | - | - | 3 | Gain | - |
GTF2IRD2B | - | - | - | - | 3 | Gain | - |
GTPBP1 | - | - | - | - | 3 | Gain | - |
GTPBP10 | - | - | - | - | 3 | Gain | - |
GTPBP4 | - | - | - | - | 1 | Loss | - |
GTPBP8 | p.L20P | Missense | SNP | 0.475 | 3 | Gain | - |
GTSE1 | p.P280S | Missense | SNP | 0.466 | 3 | Gain | - |
GUCA1C | - | - | - | - | 3 | Gain | - |
GUCD1 | - | - | - | - | 3 | Gain | - |
GUCY1B3 | p.L38F | Missense | SNP | 0.376 | ND | ND | - |
GUCY2C | p.D179N | Missense | SNP | 0.269 | 2 | - | - |
GUK1 | - | - | - | - | 3 | Gain | - |
GUSB | - | - | - | - | 3 | Gain | - |
GXYLT2 | - | - | - | - | 3 | Gain | - |
GYG1 | - | - | - | - | 3 | Gain | - |
GZMA | - | - | - | - | 3 | Gain | - |
GZMK | - | - | - | - | 3 | Gain | - |
H1F0 | - | - | - | - | 3 | Gain | - |
H1FOO | - | - | - | - | 3 | Gain | - |
H1FX | - | - | - | - | 3 | Gain | - |
H2AFV | - | - | - | - | 3 | Gain | - |
H2AFZ | - | - | - | - | 1 | Loss | - |
H3F3A | - | - | - | - | 3 | Gain | - |
HACD1 | - | - | - | - | 1 | Loss | - |
HACD2 | - | - | - | - | 3 | Gain | - |
HACD3 | - | - | - | - | 3 | Gain | - |
HACD4 | - | - | - | - | 0 | Del | - |
HADH | - | - | - | - | 1 | Loss | - |
HAPLN2 | - | - | - | - | 3 | Gain | - |
HAPLN3 | - | - | - | - | 3 | Gain | - |
HAS1 | p.A47V | Missense | SNP | 0.124 | 2 | - | - |
HAS2 | - | - | - | - | 3 | Gain | - |
HAS3 | - | - | - | - | 1 | Loss | - |
HAUS2 | - | - | - | - | 1 | Loss | - |
HAUS6 | - | - | - | - | 0 | Del | - |
HAUS8 | p.P248L | Missense | SNP | 0.416 | 2 | - | - |
HAX1 | - | - | - | - | 3 | Gain | - |
HBP1 | - | - | - | - | 3 | Gain | - |
HCFC1 | p.R847C p.L846P | Missense Missense | SNP SNP | 0.934 0.950 | ND | ND | - |
HCK | p.E221K | Missense | SNP | 0.414 | 2 | - | - |
HCLS1 | - | - | - | - | 3 | Gain | - |
HCN1 | - | - | - | - | 3 | Gain | - |
HCN3 | - | - | - | - | 3 | Gain | - |
HCN4 | - | - | - | - | 3 | Gain | - |
HDAC10 | - | - | - | - | 3 | Gain | - |
HDAC7 | p.P401F | Missense | DNP | 0.341 | 2 | - | - |
HDAC9 | - | - | - | - | 3 | Gain | - |
HDC | - | - | - | - | 1 | Loss | - |
HDDC3 | - | - | - | - | 3 | Gain | - |
HDGF | - | - | - | - | 3 | Gain | - |
HDGFL3 | - | - | - | - | 3 | Gain | - |
HDHD5 | - | - | - | - | 3 | Gain | - |
HEATR1 | - | - | - | - | 3 | Gain | - |
HEATR3 | p.A275V | Missense | SNP | 0.897 | 1 | Loss | - |
HECW1 | - | - | - | - | 3 | Gain | - |
HEG1 | - | - | - | - | 3 | Gain | - |
HELQ | - | - | - | - | 1 | Loss | - |
HELZ | p.D709E | Missense | SNP | 0.647 | 2 | - | - |
HEPACAM | p.T78I | Missense | SNP | 0.629 | 2 | - | - |
HEPACAM2 | - | - | - | - | 4 | Gain | - |
HERC1 | p.P3669S | Missense | SNP | 0.242 | 3 | Gain | - |
HERC3 | - | - | - | - | 1 | Loss | - |
HERC5 | - | - | - | - | 1 | Loss | - |
HERC6 | - | - | - | - | 1 | Loss | - |
HERPUD1 | - | - | - | - | 1 | Loss | - |
HERPUD2 | - | - | - | - | 3 | Gain | - |
HES1 | - | - | - | - | 3 | Gain | - |
HEXA | - | - | - | - | 3 | Gain | - |
HEY1 | - | - | - | - | 3 | Gain | - |
HFM1 | p.P1251S | Missense | SNP | 0.598 | 3 | Gain | - |
HGD | - | - | - | - | 3 | Gain | - |
HGF | - | - | - | - | 3 | Gain | - |
HHAT | - | - | - | - | 3 | Gain | - |
HHIPL2 | - | - | - | - | 3 | Gain | - |
HHLA2 | - | - | - | - | 3 | Gain | - |
HHLA3 | - | - | - | - | 3 | Gain | - |
HIBADH | - | - | - | - | 3 | Gain | - |
HIC2 | - | - | - | - | 3 | Gain | - |
HIF1AN | p.A329V | Missense | SNP | 0.962 | 2 | - | - |
HIGD2B | - | - | - | - | 3 | Gain | - |
HILPDA | - | - | - | - | 3 | Gain | - |
HINFP | p.S139F | Missense | SNP | 0.653 | 2 | - | - |
HIP1 | - | - | - | - | 3 | Gain | - |
HIP1R | p.E795K | Missense | SNP | 0.213 | 4 | Gain | - |
HIPK2 | - | - | - | - | 3 | Gain | - |
HIRA | - | - | - | - | 3 | Gain | - |
HIST3H2A | - | - | - | - | 3 | Gain | - |
HIST3H2BB | - | - | - | - | 3 | Gain | - |
HIST3H3 | - | - | - | - | 3 | Gain | - |
HIVEP2 | p.S1328F | Missense | SNP | 0.588 | 2 | - | - |
HLCS | p.P132S | Missense | SNP | 0.263 | 2 | - | - |
HLTF | - | - | - | - | 3 | Gain | - |
HLX | - | - | - | - | 3 | Gain | - |
HMCES | - | - | - | - | 3 | Gain | - |
HMCN1 | p.T2545I | Missense | SNP | 0.121 | 3 | Gain | - |
HMG20A | - | - | - | - | 3 | Gain | - |
HMGCR | p.K401N | Missense | SNP | 0.416 | 2 | - | - |
HMGCS1 | - | - | - | - | 3 | Gain | - |
HMGXB4 | p.P379S | Missense | SNP | 0.211 | 3 | Gain | - |
HMOX1 | - | - | - | - | 3 | Gain | - |
HNF4G | p.E360K | Missense | SNP | 0.451 | 3 | Gain | - |
HNRNPA2B1 | - | - | - | - | 3 | Gain | - |
HNRNPD | - | - | - | - | 1 | Loss | - |
HNRNPDL | - | - | - | - | 1 | Loss | - |
HNRNPF | - | - | - | - | 1 | Loss | - |
HNRNPU | - | - | - | - | 3 | Gain | - |
HOMER2 | - | - | - | - | 3 | Gain | - |
HOOK1 | - | - | - | - | 3 | Gain | - |
HORMAD2 | - | - | - | - | 3 | Gain | - |
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 | - |
HOXB1 | p.P64S | Missense | SNP | 0.595 | 2 | - | - |
HP | - | - | - | - | 1 | Loss | - |
HPGDS | - | - | - | - | 1 | Loss | - |
HPR | - | - | - | - | 1 | Loss | - |
HPRT1 | p.D13E | Missense | SNP | 1.000 | ND | ND | - |
HPS3 | - | - | - | - | 3 | Gain | - |
HPS4 | - | - | - | - | 3 | Gain | - |
HPSE | - | - | - | - | 1 | Loss | - |
HRASLS | - | - | - | - | 3 | Gain | - |
HRC | p.E188K | Missense | SNP | 0.503 | 2 | - | - |
HRG | - | - | - | - | 3 | Gain | - |
HRH3 | p.E395K | Missense | SNP | 0.444 | 2 | - | - |
HS2ST1 | - | - | - | - | 3 | Gain | - |
HS6ST2 | p.S109F | Missense | DNP | 0.492 | ND | ND | - |
HSBP1 | - | - | - | - | 1 | Loss | - |
HSCB | - | - | - | - | 3 | Gain | - |
HSD11B1 | - | - | - | - | 3 | Gain | - |
HSD11B2 | - | - | - | - | 1 | Loss | - |
HSD17B11 | - | - | - | - | 1 | Loss | - |
HSD17B13 | - | - | - | - | 1 | Loss | - |
HSD17B2 | - | - | - | - | 1 | Loss | - |
HSD17B7 | - | - | - | - | 3 | Gain | - |
HSDL1 | - | - | - | - | 1 | Loss | - |
HSF4 | - | - | - | - | 1 | Loss | - |
HSH2D | p.P289L | Missense | SNP | 0.433 | 2 | - | - |
HSPA12A | p.S195F | Missense | SNP | 0.570 | 2 | - | - |
HSPA14 | - | - | - | - | 1 | Loss | - |
HSPA6 | - | - | - | - | 3 | Gain | - |
HSPB1 | - | - | - | - | 3 | Gain | - |
HSPB3 | - | - | - | - | 3 | Gain | - |
HSPBAP1 | - | - | - | - | 3 | Gain | - |
HTR1F | - | - | - | - | 3 | Gain | - |
HTR3C | p.G368R | Missense | SNP | 0.280 | 3 | Gain | - |
HTR3D | - | - | - | - | 3 | Gain | - |
HTR3E | p.S12F p.G384E | Missense Missense | SNP SNP | 0.186 0.552 | 3 | Gain | - |
HTR4 | p.T385P | Missense | SNP | 0.294 | 2 | - | - |
HTR5A | p.T274R | Missense | SNP | 0.349 | 3 | Gain | - |
HTRA1 | p.S441F | Missense | SNP | 0.964 | 2 | - | - |
HUS1 | - | - | - | - | 3 | Gain | - |
HYAL4 | - | - | - | - | 3 | Gain | - |
HYDIN | p.R375Q | Missense | SNP | 0.890 | 1 | Loss | - |
HYKK | - | - | - | - | 3 | Gain | - |
HYPK | - | - | - | - | 1 | Loss | - |
IAPP | p.S52F | Missense | SNP | 0.228 | 2 | - | - |
IARS2 | - | - | - | - | 3 | Gain | - |
IBA57 | - | - | - | - | 3 | Gain | - |
IBSP | - | - | - | - | 1 | Loss | - |
ICA1 | p.P9S | Missense | SNP | 0.305 | 3 | Gain | - |
ICAM1 | - | - | - | - | 3 | Gain | - |
ICAM3 | - | - | - | - | 3 | Gain | - |
ICAM4 | - | - | - | - | 3 | Gain | - |
ICAM5 | - | - | - | - | 3 | Gain | - |
ICE1 | p.S949F | Missense | SNP | 0.174 | 2 | - | - |
ICE2 | - | - | - | - | 3 | Gain | - |
IDH2 | - | - | - | - | 3 | Gain | - |
IDH3A | - | - | - | - | 3 | Gain | - |
IDH3B | p.P261L | Missense | SNP | 0.225 | 2 | - | - |
IDI1 | - | - | - | - | 1 | Loss | - |
IDI2 | - | - | - | - | 1 | Loss | - |
IER5 | - | - | - | - | 3 | Gain | - |
IFI16 | - | - | - | - | 3 | Gain | - |
IFI44 | - | - | - | - | 3 | Gain | - |
IFI44L | - | - | - | - | 3 | Gain | - |
IFIT3 | p.H425Y | Missense | SNP | 0.561 | 2 | - | - |
IFNA1 | - | - | - | - | 0 | Del | - |
IFNA10 | - | - | - | - | 0 | Del | - |
IFNA13 | - | - | - | - | 0 | Del | - |
IFNA14 | - | - | - | - | 0 | Del | - |
IFNA16 | - | - | - | - | 0 | Del | - |
IFNA17 | - | - | - | - | 0 | Del | - |
IFNA2 | - | - | - | - | 0 | Del | - |
IFNA21 | - | - | - | - | 0 | Del | - |
IFNA4 | - | - | - | - | 0 | Del | - |
IFNA5 | - | - | - | - | 0 | Del | - |
IFNA6 | - | - | - | - | 0 | Del | - |
IFNA7 | - | - | - | - | 0 | Del | - |
IFNA8 | - | - | - | - | 0 | Del | - |
IFNB1 | - | - | - | - | 0 | Del | - |
IFNE | - | - | - | - | 0 | Del | - |
IFNK | - | - | - | - | 0 | Del | - |
IFNW1 | - | - | - | - | 0 | Del | - |
IFRD1 | - | - | - | - | 3 | Gain | - |
IFT122 | - | - | - | - | 3 | Gain | - |
IFT22 | p.E98K | Missense | SNP | 0.617 | 3 | Gain | - |
IFT27 | - | - | - | - | 3 | Gain | - |
IFT57 | - | - | - | - | 3 | Gain | - |
IFT74 | - | - | - | - | 0 | Del | - |
IFT80 | - | - | - | - | 3 | Gain | - |
IFT88 | - | - | - | - | 3 | Gain | - |
IGDCC3 | - | - | - | - | 3 | Gain | - |
IGDCC4 | - | - | - | - | 3 | Gain | - |
IGF1R | - | - | - | - | 3 | Gain | - |
IGF2BP1 | p.R452C | Missense | SNP | 0.546 | 2 | - | - |
IGF2BP2 | - | - | - | - | 3 | Gain | - |
IGF2BP3 | - | - | - | - | 3 | Gain | - |
IGFBP1 | - | - | - | - | 3 | Gain | - |
IGFBP3 | - | - | - | - | 3 | Gain | - |
IGFN1 | - | - | - | - | 3 | Gain | - |
IGHA1 | p.A133T | Missense | SNP | 0.629 | ND | ND | - |
IGHV3-11 | p.M102L | Missense | SNP | 0.262 | ND | ND | - |
IGLL1 | - | - | - | - | 3 | Gain | - |
IGLL5 | - | - | - | - | 3 | Gain | - |
IGLV10-54 | - | - | - | - | 3 | Gain | - |
IGSF10 | - | - | - | - | 3 | Gain | - |
IGSF11 | - | - | - | - | 3 | Gain | - |
IGSF8 | - | - | - | - | 3 | Gain | - |
IGSF9 | p.V639I | Missense | SNP | 0.803 | 3 | Gain | - |
IKBKE | - | - | - | - | 3 | Gain | - |
IKZF1 | - | - | - | - | 3 | Gain | - |
IL10 | - | - | - | - | 3 | Gain | - |
IL12A | - | - | - | - | 3 | Gain | - |
IL12B | p.E221K | Missense | SNP | 0.308 | 2 | - | - |
IL12RB2 | - | - | - | - | 3 | Gain | - |
IL15RA | - | - | - | - | 1 | Loss | - |
IL16 | - | - | - | - | 3 | Gain | - |
IL17C | - | - | - | - | 1 | Loss | - |
IL17D | - | - | - | - | 3 | Gain | - |
IL17RA | - | - | - | - | 3 | Gain | - |
IL17RC | p.H160Y | Missense | SNP | 0.451 | 2 | - | - |
IL17REL | - | - | - | - | 3 | Gain | - |
IL19 | - | - | - | - | 3 | Gain | - |
IL1F10 | p.S78F | Missense | SNP | 0.429 | 2 | - | - |
IL1RAP | - | - | - | - | 3 | Gain | - |
IL2 | - | - | - | - | 1 | Loss | - |
IL20 | - | - | - | - | 3 | Gain | - |
IL20RB | - | - | - | - | 3 | Gain | - |
IL21 | - | - | - | - | 1 | Loss | - |
IL23R | - | - | - | - | 3 | Gain | - |
IL24 | - | - | - | - | 3 | Gain | - |
IL25 | p.V27I | Missense | SNP | 0.589 | 2 | - | - |
IL2RA | - | - | - | - | 1 | Loss | - |
IL2RB | - | - | - | - | 3 | Gain | - |
IL31RA | - | - | - | - | 3 | Gain | - |
IL33 | - | - | - | - | 0 | Del | - |
IL34 | - | - | - | - | 1 | Loss | - |
IL6 | - | - | - | - | 3 | Gain | - |
IL6R | - | - | - | - | 3 | Gain | - |
IL6ST | - | - | - | - | 3 | Gain | - |
IL7 | - | - | - | - | 3 | Gain | - |
ILDR1 | p.S478F | Missense | SNP | 0.506 | 3 | Gain | - |
ILDR2 | - | - | - | - | 3 | Gain | - |
ILF2 | - | - | - | - | 3 | Gain | - |
ILF3 | - | - | - | - | 3 | Gain | - |
IMMP2L | - | - | - | - | 3 | Gain | - |
IMP3 | - | - | - | - | 3 | Gain | - |
IMPA1 | - | - | - | - | 3 | Gain | - |
IMPDH1 | p.S537F | Missense | SNP | 0.562 | 3 | Gain | - |
IMPG2 | - | - | - | - | 3 | Gain | - |
INAVA | - | - | - | - | 3 | Gain | - |
ING3 | - | - | - | - | 3 | Gain | - |
INHBA | - | - | - | - | 3 | Gain | - |
INMT | - | - | - | - | 3 | Gain | - |
INMT-MINDY4 | - | - | - | - | 3 | Gain | - |
INO80 | - | - | - | - | 1 | Loss | - |
INPP5D | p.S263P | Missense | SNP | 0.200 | 2 | - | - |
INPP5J | - | - | - | - | 3 | Gain | - |
INSIG1 | - | - | - | - | 3 | Gain | - |
INSL4 | - | - | - | - | 0 | Del | - |
INSL5 | - | - | - | - | 3 | Gain | - |
INSL6 | - | - | - | - | 0 | Del | - |
INSRR | p.E1030K | Missense | SNP | 0.772 | 3 | Gain | - |
INSYN1 | - | - | - | - | 3 | Gain | - |
INTS1 | - | - | - | - | 3 | Gain | - |
INTS12 | - | - | - | - | 1 | Loss | - |
INTS14 | - | - | - | - | 3 | Gain | - |
INTS3 | - | - | - | - | 3 | Gain | - |
INTS4 | p.P107L | Missense | SNP | 0.600 | 2 | - | - |
INTS7 | - | - | - | - | 3 | Gain | - |
INTS8 | - | - | - | - | 3 | Gain | - |
IPMK | - | - | - | - | 1 | Loss | - |
IPO8 | p.S357F | Missense | SNP | 0.104 | 2 | - | - |
IPO9 | - | - | - | - | 3 | Gain | - |
IPP | p.G472E | Missense | SNP | 0.279 | 2 | - | - |
IQCB1 | - | - | - | - | 3 | Gain | - |
IQCE | - | - | - | - | 3 | Gain | - |
IQCG | - | - | - | - | 3 | Gain | - |
IQCH | - | - | - | - | 3 | Gain | - |
IQCJ | - | - | - | - | 3 | Gain | - |
IQCJ-SCHIP1 | - | - | - | - | 3 | Gain | - |
IQGAP1 | - | - | - | - | 3 | Gain | - |
IQGAP3 | - | - | - | - | 3 | Gain | - |
IQUB | - | - | - | - | 3 | Gain | - |
IRAK3 | p.H166Y | Missense | SNP | 0.578 | 2 | - | - |
IREB2 | - | - | - | - | 3 | Gain | - |
IRF2BP2 | - | - | - | - | 3 | Gain | - |
IRF5 | - | - | - | - | 3 | Gain | - |
IRF6 | - | - | - | - | 3 | Gain | - |
IRF8 | - | - | - | - | 1 | Loss | - |
IRX3 | - | - | - | - | 1 | Loss | - |
IRX5 | - | - | - | - | 1 | Loss | - |
IRX6 | - | - | - | - | 1 | Loss | - |
ISG20 | - | - | - | - | 3 | Gain | - |
ISG20L2 | - | - | - | - | 3 | Gain | - |
ISL1 | - | - | - | - | 3 | Gain | - |
ISL2 | - | - | - | - | 3 | Gain | - |
ISLR | - | - | - | - | 3 | Gain | - |
ISLR2 | - | - | - | - | 3 | Gain | - |
ISPD | - | - | - | - | 3 | Gain | - |
IST1 | - | - | - | - | 1 | Loss | - |
ISX | - | - | - | - | 3 | Gain | - |
ISY1 | - | - | - | - | 3 | Gain | - |
ISY1-RAB43 | - | - | - | - | 3 | Gain | - |
ITFG1 | - | - | - | - | 1 | Loss | - |
ITGA1 | - | - | - | - | 3 | Gain | - |
ITGA11 | - | - | - | - | 3 | Gain | - |
ITGA2 | - | - | - | - | 3 | Gain | - |
ITGA2B | p.X1021_splice | Splice_Site | SNP | 0.274 | 2 | - | - |
ITGA4 | p.R261W p.G539E | Missense Missense | SNP SNP | 0.490 0.399 | 2 | - | - |
ITGA5 | p.S785Y | Missense | SNP | 0.647 | 2 | - | - |
ITGA7 | p.S442N | Missense | SNP | 0.628 | 2 | - | - |
ITGA8 | - | - | - | - | 1 | Loss | - |
ITGB1 | - | - | - | - | 1 | Loss | - |
ITGB3BP | - | - | - | - | 3 | Gain | - |
ITGB5 | - | - | - | - | 3 | Gain | - |
ITGB6 | p.G26V | Missense | SNP | 0.454 | 2 | - | - |
ITGB8 | - | - | - | - | 3 | Gain | - |
ITGBL1 | p.G203E | Missense | SNP | 0.254 | 2 | - | - |
ITIH2 | p.L13F | Missense | SNP | 0.339 | 1 | Loss | - |
ITIH5 | - | - | - | - | 1 | Loss | - |
ITK | p.G452R | Missense | SNP | 0.309 | 2 | - | - |
ITLN1 | - | - | - | - | 3 | Gain | - |
ITLN2 | - | - | - | - | 3 | Gain | - |
ITPKA | - | - | - | - | 1 | Loss | - |
ITPKB | - | - | - | - | 3 | Gain | - |
ITPRID1 | - | - | - | - | 3 | Gain | - |
ITSN2 | p.P151L | Missense | SNP | 0.286 | 2 | - | - |
IVD | - | - | - | - | 1 | Loss | - |
IVNS1ABP | - | - | - | - | 3 | Gain | - |
IZUMO3 | - | - | - | - | 0 | Del | - |
JADE2 | p.V330G | Missense | SNP | 0.313 | 2 | - | - |
JAK1 | - | - | - | - | 3 | Gain | - |
JAK2 | - | - | - | - | 0 | Del | - |
JARID2 | p.P687L p.P766L | Missense Missense | SNP SNP | 0.638 0.337 | 2 | - | - |
JAZF1 | - | - | - | - | 3 | Gain | - |
JCAD | - | - | - | - | 1 | Loss | - |
JMJD4 | - | - | - | - | 3 | Gain | - |
JMJD7 | - | - | - | - | 1 | Loss | - |
JMJD7-PLA2G4B | - | - | - | - | 1 | Loss | - |
JOSD1 | - | - | - | - | 3 | Gain | - |
JPH1 | - | - | - | - | 3 | Gain | - |
JPH3 | - | - | - | - | 1 | Loss | - |
JPH4 | - | - | - | - | 1 | Loss | - |
JTB | - | - | - | - | 3 | Gain | - |
JUN | - | - | - | - | 3 | Gain | - |
KALRN | p.P1649S | Missense | SNP | 0.475 | 3 | Gain | - |
KANK1 | - | - | - | - | 0 | Del | - |
KANK2 | - | - | - | - | 3 | Gain | - |
KANK4 | - | - | - | - | 3 | Gain | - |
KARS | - | - | - | - | 1 | Loss | - |
KAT14 | p.Q275E | Missense | SNP | 0.455 | 2 | - | - |
KAT6B | p.S1867F | Missense | SNP | 0.596 | 2 | - | - |
KATNB1 | - | - | - | - | 1 | Loss | - |
KATNBL1 | - | - | - | - | 1 | Loss | - |
KAZN | p.V391G | Missense | SNP | 0.658 | 2 | - | - |
KBTBD12 | - | - | - | - | 3 | Gain | - |
KBTBD13 | - | - | - | - | 3 | Gain | - |
KBTBD2 | - | - | - | - | 3 | Gain | - |
KBTBD8 | - | - | - | - | 3 | Gain | - |
KCNA1 | p.S390F | Missense | SNP | 0.356 | 2 | - | - |
KCNA6 | p.G435E | Missense | SNP | 0.326 | 2 | - | - |
KCNA7 | p.P366L | Missense | SNP | 0.499 | 2 | - | - |
KCNAB1 | - | - | - | - | 3 | Gain | - |
KCNB1 | p.G379E p.E130K | Missense Missense | SNP SNP | 0.190 0.269 | 2 | - | - |
KCNB2 | - | - | - | - | 3 | Gain | - |
KCNC3 | p.V374M | Missense | SNP | 0.445 | 2 | - | - |
KCND1 | p.E142K | Missense | SNP | 0.472 | ND | ND | - |
KCND2 | - | - | - | - | 3 | Gain | - |
KCND3 | p.E72K | Missense | DNP | 0.633 | 2 | - | - |
KCNF1 | p.E323K | Missense | SNP | 0.535 | 2 | - | - |
KCNG4 | - | - | - | - | 1 | Loss | - |
KCNH1 | p.S94F | Missense | SNP | 0.772 | 3 | Gain | - |
KCNH2 | - | - | - | - | 3 | Gain | - |
KCNH5 | p.P953S p.P701S p.S594F p.G434E p.S142L | Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP | 0.294 0.719 0.639 0.315 0.356 | 2 | - | - |
KCNH8 | p.S1031L | Missense | SNP | 0.237 | 2 | - | - |
KCNJ10 | - | - | - | - | 3 | Gain | - |
KCNJ4 | - | - | - | - | 3 | Gain | - |
KCNJ9 | - | - | - | - | 3 | Gain | - |
KCNK1 | - | - | - | - | 3 | Gain | - |
KCNK2 | - | - | - | - | 3 | Gain | - |
KCNMB2 | p.M206I | Missense | SNP | 0.509 | 3 | Gain | - |
KCNMB3 | - | - | - | - | 3 | Gain | - |
KCNN2 | p.P525S | Missense | SNP | 0.322 | 2 | - | - |
KCNN3 | - | - | - | - | 3 | Gain | - |
KCNS2 | - | - | - | - | 3 | Gain | - |
KCNT2 | - | - | - | - | 3 | Gain | - |
KCNV1 | - | - | - | - | 3 | Gain | - |
KCNV2 | - | - | - | - | 0 | Del | - |
KCP | - | - | - | - | 3 | Gain | - |
KCTD17 | - | - | - | - | 3 | Gain | - |
KCTD19 | - | - | - | - | 1 | Loss | - |
KCTD3 | - | - | - | - | 3 | Gain | - |
KCTD7 | - | - | - | - | 3 | Gain | - |
KDELR2 | - | - | - | - | 3 | Gain | - |
KDELR3 | - | - | - | - | 3 | Gain | - |
KDM4C | - | - | - | - | 0 | Del | - |
KDM5B | - | - | - | - | 3 | Gain | - |
KDM7A | - | - | - | - | 3 | Gain | - |
KDR | p.S1100F p.R1032Q | Missense Missense | SNP SNP | 0.459 0.215 | 2 | - | - |
KEAP1 | - | - | - | - | 3 | Gain | - |
KEL | p.S318F p.S277F | Missense Missense | SNP SNP | 0.412 0.148 | 3 | Gain | - |
KHDC1L | p.D92N | Missense | SNP | 0.225 | 2 | - | - |
KHDC4 | - | - | - | - | 3 | Gain | - |
KHDRBS2 | p.E93K | Missense | SNP | 0.331 | 2 | - | - |
KIAA0040 | - | - | - | - | 3 | Gain | - |
KIAA0319 | p.R887Q | Missense | SNP | 0.186 | 2 | - | - |
KIAA0355 | p.R874Q | Missense | SNP | 0.497 | 2 | - | - |
KIAA0408 | p.S469L | Missense | SNP | 0.249 | 2 | - | - |
KIAA0513 | p.H316Y | Missense | SNP | 0.446 | 1 | Loss | - |
KIAA0895 | - | - | - | - | 3 | Gain | - |
KIAA0895L | - | - | - | - | 1 | Loss | - |
KIAA0930 | - | - | - | - | 3 | Gain | - |
KIAA1024 | - | - | - | - | 3 | Gain | - |
KIAA1107 | p.L872K | Missense | DNP | 0.652 | ND | ND | - |
KIAA1109 | - | - | - | - | 1 | Loss | - |
KIAA1147 | - | - | - | - | 3 | Gain | - |
KIAA1217 | - | - | - | - | 1 | Loss | - |
KIAA1257 | - | - | - | - | 3 | Gain | - |
KIAA1324L | - | - | - | - | 3 | Gain | - |
KIAA1549 | p.A891V | Missense | SNP | 0.351 | 3 | Gain | - |
KIAA1551 | p.E842K p.P917S | Missense Missense | SNP SNP | 0.301 0.390 | 2 | - | - |
KIAA1614 | - | - | - | - | 3 | Gain | - |
KIAA1671 | - | - | - | - | 3 | Gain | - |
KIAA2022 | p.P683S p.E518K | Missense Missense | SNP SNP | 0.530 0.964 | ND | ND | - |
KIAA2026 | - | - | - | - | 0 | Del | - |
KIF14 | - | - | - | - | 3 | Gain | - |
KIF15 | p.S327F | Missense | SNP | 0.440 | 2 | - | - |
KIF17 | p.E459K | Missense | SNP | 0.490 | 2 | - | - |
KIF21B | - | - | - | - | 3 | Gain | - |
KIF23 | - | - | - | - | 3 | Gain | - |
KIF24 | p.E822K | Missense | SNP | 0.836 | 0 | Del | - |
KIF26B | - | - | - | - | 3 | Gain | - |
KIF5B | - | - | - | - | 1 | Loss | - |
KIF5C | p.E518K | Missense | SNP | 0.243 | 2 | - | - |
KIF6 | p.R242Q | Missense | SNP | 0.224 | 2 | - | - |
KIF7 | - | - | - | - | 3 | Gain | - |
KIFAP3 | - | - | - | - | 3 | Gain | - |
KIFC3 | - | - | - | - | 1 | Loss | - |
KIN | - | - | - | - | 1 | Loss | - |
KIR3DL1 | p.S346L | Missense | SNP | 0.226 | 2 | - | - |
KIR3DL3 | p.K393* | Nonsense | SNP | 0.490 | 2 | - | - |
KIRREL1 | - | - | - | - | 3 | Gain | - |
KISS1 | - | - | - | - | 3 | Gain | - |
KLF10 | - | - | - | - | 3 | Gain | - |
KLF13 | - | - | - | - | 1 | Loss | - |
KLF14 | - | - | - | - | 3 | Gain | - |
KLF15 | - | - | - | - | 3 | Gain | - |
KLF5 | p.LP343FS | Missense | DNP | 0.536 | 2 | - | - |
KLF6 | - | - | - | - | 1 | Loss | - |
KLHDC10 | - | - | - | - | 3 | Gain | - |
KLHDC4 | - | - | - | - | 1 | Loss | - |
KLHDC7A | p.E635K | Missense | SNP | 0.688 | 2 | - | - |
KLHDC7B | p.G234R | Missense | SNP | 0.192 | 2 | - | - |
KLHDC8A | - | - | - | - | 3 | Gain | - |
KLHDC9 | - | - | - | - | 3 | Gain | - |
KLHL12 | - | - | - | - | 3 | Gain | - |
KLHL18 | p.P321S | Missense | SNP | 0.461 | 2 | - | - |
KLHL20 | - | - | - | - | 4 | Gain | - |
KLHL22 | - | - | - | - | 3 | Gain | - |
KLHL24 | - | - | - | - | 3 | Gain | - |
KLHL25 | - | - | - | - | 3 | Gain | - |
KLHL36 | - | - | - | - | 1 | Loss | - |
KLHL40 | p.A207V | Missense | SNP | 0.250 | 2 | - | - |
KLHL6 | - | - | - | - | 3 | Gain | - |
KLHL7 | - | - | - | - | 3 | Gain | - |
KLHL8 | - | - | - | - | 1 | Loss | - |
KLHL9 | - | - | - | - | 0 | Del | - |
KLK7 | p.P232S | Missense | SNP | 0.508 | 2 | - | - |
KLKB1 | p.S151L | Missense | SNP | 0.157 | 2 | - | - |
KLRG1 | p.P179S | Missense | SNP | 0.661 | 2 | - | - |
KLRG2 | - | - | - | - | 3 | Gain | - |
KMO | p.M317I | Missense | SNP | 0.477 | 3 | Gain | - |
KMT2B | p.P171S | Missense | SNP | 0.486 | 2 | - | - |
KMT2C | - | - | - | - | 3 | Gain | - |
KMT2D | p.T2332I | Missense | SNP | 0.637 | 2 | - | - |
KMT2E | p.E1388K | Missense | SNP | 0.605 | 3 | Gain | - |
KMT5A | p.G28N | Missense | DNP | 0.750 | 2 | - | - |
KNG1 | - | - | - | - | 3 | Gain | - |
KNL1 | - | - | - | - | 1 | Loss | - |
KNSTRN | - | - | - | - | 1 | Loss | - |
KPNA1 | - | - | - | - | 3 | Gain | - |
KPNA4 | - | - | - | - | 3 | Gain | - |
KPNA7 | - | - | - | - | 3 | Gain | - |
KRBA1 | - | - | - | - | 3 | Gain | - |
KREMEN1 | - | - | - | - | 3 | Gain | - |
KRI1 | - | - | - | - | 3 | Gain | - |
KRIT1 | - | - | - | - | 4 | Gain | - |
KRT12 | p.R158* | Nonsense | SNP | 0.294 | 2 | - | - |
KRT2 | p.G571E | Missense | SNP | 0.270 | 2 | - | - |
KRT28 | p.H135Y | Missense | SNP | 0.565 | 2 | - | - |
KRT33B | p.E185K | Missense | SNP | 0.721 | 2 | - | - |
KRT6C | p.D323N | Missense | SNP | 0.404 | 2 | - | - |
KRT76 | p.G154R | Missense | SNP | 0.603 | 2 | - | - |
KRT84 | p.E294K | Missense | SNP | 0.240 | 2 | - | - |
KRTAP1-4 | p.G48D | Missense | SNP | 0.320 | ND | ND | - |
KRTAP10-1 | - | - | - | - | 1 | Loss | - |
KRTAP10-10 | - | - | - | - | 1 | Loss | - |
KRTAP10-11 | - | - | - | - | 1 | Loss | - |
KRTAP10-2 | - | - | - | - | 1 | Loss | - |
KRTAP10-3 | - | - | - | - | 1 | Loss | - |
KRTAP10-4 | - | - | - | - | 1 | Loss | - |
KRTAP10-5 | - | - | - | - | 1 | Loss | - |
KRTAP10-6 | - | - | - | - | 1 | Loss | - |
KRTAP10-7 | - | - | - | - | 1 | Loss | - |
KRTAP10-8 | - | - | - | - | 1 | Loss | - |
KRTAP10-9 | - | - | - | - | 1 | Loss | - |
KRTAP12-4 | - | - | - | - | 1 | Loss | - |
KRTAP4-6 | p.S4F | Missense | SNP | 0.223 | 2 | - | - |
KRTAP6-2 | p.G45D | Missense | SNP | 0.319 | 2 | - | - |
KRTCAP2 | - | - | - | - | 3 | Gain | - |
KY | - | - | - | - | 3 | Gain | - |
KYAT3 | - | - | - | - | 3 | Gain | - |
L1TD1 | - | - | - | - | 3 | Gain | - |
L3MBTL2 | - | - | - | - | 3 | Gain | - |
LACTB | - | - | - | - | 3 | Gain | - |
LACTB2 | p.I274K | Missense | SNP | 0.252 | 3 | Gain | - |
LAD1 | p.S375F p.D43N | Missense Missense | SNP SNP | 0.805 0.339 | 3 | Gain | - |
LAMA2 | p.R1319* | Nonsense | SNP | 0.277 | 2 | - | - |
LAMA5 | p.G1723E | Missense | SNP | 0.494 | 2 | - | - |
LAMB1 | - | - | - | - | 3 | Gain | - |
LAMB3 | - | - | - | - | 3 | Gain | - |
LAMB4 | - | - | - | - | 3 | Gain | - |
LAMC1 | - | - | - | - | 3 | Gain | - |
LAMC2 | - | - | - | - | 3 | Gain | - |
LAMP3 | - | - | - | - | 3 | Gain | - |
LAMTOR2 | - | - | - | - | 3 | Gain | - |
LAMTOR3 | - | - | - | - | 1 | Loss | - |
LAMTOR4 | - | - | - | - | 3 | Gain | - |
LANCL2 | - | - | - | - | 3 | Gain | - |
LAPTM4B | - | - | - | - | 3 | Gain | - |
LARGE1 | - | - | - | - | 3 | Gain | - |
LARGE2 | p.V517I | Missense | SNP | 0.385 | 2 | - | - |
LARP4B | - | - | - | - | 1 | Loss | - |
LARP6 | - | - | - | - | 3 | Gain | - |
LARP7 | - | - | - | - | 1 | Loss | - |
LAT2 | - | - | - | - | 3 | Gain | - |
LATS2 | p.S274F | Missense | SNP | 0.398 | 3 | Gain | - |
LAX1 | - | - | - | - | 3 | Gain | - |
LBR | - | - | - | - | 3 | Gain | - |
LCAT | - | - | - | - | 1 | Loss | - |
LCE1C | p.P39S | Missense | SNP | 0.248 | 2 | - | - |
LCE5A | p.S41L | Missense | SNP | 0.673 | 2 | - | - |
LCMT2 | - | - | - | - | 1 | Loss | - |
LCOR | p.I238N p.A1200T | Missense Missense | SNP SNP | 0.370 0.397 | 2 | - | - |
LCTL | - | - | - | - | 3 | Gain | - |
LDHAL6B | - | - | - | - | 3 | Gain | - |
LDHD | - | - | - | - | 1 | Loss | - |
LDLR | - | - | - | - | 3 | Gain | - |
LEF1 | - | - | - | - | 1 | Loss | - |
LEFTY1 | - | - | - | - | 3 | Gain | - |
LEFTY2 | - | - | - | - | 3 | Gain | - |
LEKR1 | - | - | - | - | 3 | Gain | - |
LELP1 | - | - | - | - | 3 | Gain | - |
LEMD1 | - | - | - | - | 3 | Gain | - |
LENEP | - | - | - | - | 3 | Gain | - |
LENG8 | p.T332I | Missense | SNP | 0.636 | 2 | - | - |
LEO1 | - | - | - | - | 1 | Loss | - |
LEP | - | - | - | - | 3 | Gain | - |
LEPR | - | - | - | - | 3 | Gain | - |
LEPROT | - | - | - | - | 3 | Gain | - |
LFNG | - | - | - | - | 3 | Gain | - |
LGALS1 | - | - | - | - | 3 | Gain | - |
LGALS2 | - | - | - | - | 3 | Gain | - |
LGALS8 | - | - | - | - | 3 | Gain | - |
LGR6 | p.S163F | Missense | SNP | 0.110 | 3 | Gain | - |
LHFPL3 | - | - | - | - | 3 | Gain | - |
LHX4 | - | - | - | - | 3 | Gain | - |
LHX8 | - | - | - | - | 3 | Gain | - |
LHX9 | p.R271Q | Missense | SNP | 0.235 | 3 | Gain | - |
LIF | - | - | - | - | 3 | Gain | - |
LIFR | - | - | - | - | 3 | Gain | - |
LILRA4 | p.P181S | Missense | SNP | 0.363 | 2 | - | - |
LILRB1 | p.D260N | Missense | SNP | 0.251 | 2 | - | - |
LIMK1 | - | - | - | - | 3 | Gain | - |
LIMK2 | - | - | - | - | 3 | Gain | - |
LIMS1 | p.P108S | Missense | SNP | 0.265 | 2 | - | - |
LIN54 | - | - | - | - | 1 | Loss | - |
LIN9 | - | - | - | - | 3 | Gain | - |
LINGO1 | - | - | - | - | 3 | Gain | - |
LINGO2 | - | - | - | - | 0 | Del | - |
LINS1 | - | - | - | - | 3 | Gain | - |
LIPC | - | - | - | - | 3 | Gain | - |
LIPF | p.D159N | Missense | SNP | 0.395 | 2 | - | - |
LIPH | - | - | - | - | 3 | Gain | - |
LLCFC1 | - | - | - | - | 3 | Gain | - |
LMAN1L | - | - | - | - | 3 | Gain | - |
LMAN2L | p.S279F | Missense | SNP | 0.481 | 2 | - | - |
LMBR1 | - | - | - | - | 3 | Gain | - |
LMLN | - | - | - | - | 3 | Gain | - |
LMNA | p.E203K | Missense | DNP | 0.860 | 3 | Gain | - |
LMO4 | - | - | - | - | 3 | Gain | - |
LMO7DN | p.W9* | Nonsense | SNP | 0.521 | ND | ND | - |
LMOD1 | - | - | - | - | 3 | Gain | - |
LMOD2 | - | - | - | - | 3 | Gain | - |
LMOD3 | - | - | - | - | 3 | Gain | - |
LMTK2 | - | - | - | - | 3 | Gain | - |
LMX1A | - | - | - | - | 3 | Gain | - |
LNP1 | - | - | - | - | 3 | Gain | - |
LONP2 | - | - | - | - | 1 | Loss | - |
LOR | - | - | - | - | 3 | Gain | - |
LOXHD1 | p.D531N | Missense | SNP | 0.212 | 2 | - | - |
LOXL1 | - | - | - | - | 3 | Gain | - |
LPAR3 | - | - | - | - | 3 | Gain | - |
LPCAT2 | - | - | - | - | 1 | Loss | - |
LPCAT4 | - | - | - | - | 1 | Loss | - |
LPGAT1 | - | - | - | - | 3 | Gain | - |
LPP | - | - | - | - | 3 | Gain | - |
LRAT | - | - | - | - | 1 | Loss | - |
LRBA | - | - | - | - | 1 | Loss | - |
LRCH3 | - | - | - | - | 3 | Gain | - |
LRCH4 | - | - | - | - | 3 | Gain | - |
LRFN5 | p.S394F | Missense | SNP | 0.369 | 2 | - | - |
LRGUK | - | - | - | - | 3 | Gain | - |
LRIG1 | - | - | - | - | 3 | Gain | - |
LRIT3 | - | - | - | - | 1 | Loss | - |
LRP1 | p.L2656F p.H4116Y | Missense Missense | SNP SNP | 0.321 0.616 | 2 | - | - |
LRP12 | - | - | - | - | 3 | Gain | - |
LRP1B | p.W4001* p.R2495Q p.S1102F | Nonsense Missense Missense | SNP SNP SNP | 0.212 0.434 0.303 | 2 | - | - |
LRP2 | p.W4295* p.R1206C | Nonsense Missense | SNP SNP | 0.267 0.272 | 2 | - | - |
LRP5L | - | - | - | - | 3 | Gain | - |
LRRC15 | p.N249T | Missense | SNP | 0.268 | 3 | Gain | - |
LRRC17 | - | - | - | - | 3 | Gain | - |
LRRC18 | - | - | - | - | 1 | Loss | - |
LRRC19 | - | - | - | - | 0 | Del | - |
LRRC28 | - | - | - | - | 3 | Gain | - |
LRRC29 | - | - | - | - | 1 | Loss | - |
LRRC30 | p.P87S | Missense | SNP | 0.411 | 2 | - | - |
LRRC31 | p.D294N | Missense | SNP | 0.529 | 3 | Gain | - |
LRRC34 | - | - | - | - | 3 | Gain | - |
LRRC36 | - | - | - | - | 1 | Loss | - |
LRRC37A3 | p.S146L | Missense | SNP | 0.810 | 2 | - | - |
LRRC39 | - | - | - | - | 3 | Gain | - |
LRRC4 | - | - | - | - | 3 | Gain | - |
LRRC40 | - | - | - | - | 3 | Gain | - |
LRRC49 | - | - | - | - | 3 | Gain | - |
LRRC52 | - | - | - | - | 3 | Gain | - |
LRRC53 | p.D291N | Missense | SNP | 0.734 | 3 | Gain | - |
LRRC57 | - | - | - | - | 1 | Loss | - |
LRRC58 | - | - | - | - | 3 | Gain | - |
LRRC61 | p.A78V | Missense | DNP | 0.361 | 3 | Gain | - |
LRRC69 | - | - | - | - | 3 | Gain | - |
LRRC7 | - | - | - | - | 3 | Gain | - |
LRRC71 | - | - | - | - | 3 | Gain | - |
LRRC72 | - | - | - | - | 3 | Gain | - |
LRRC74B | - | - | - | - | 3 | Gain | - |
LRRC75B | - | - | - | - | 3 | Gain | - |
LRRC8B | - | - | - | - | 3 | Gain | - |
LRRC8C | - | - | - | - | 3 | Gain | - |
LRRC8D | - | - | - | - | 3 | Gain | - |
LRRCC1 | p.G159E | Missense | SNP | 0.209 | 3 | Gain | - |
LRRD1 | - | - | - | - | 3 | Gain | - |
LRRIQ3 | p.S217L | Missense | SNP | 0.283 | 3 | Gain | - |
LRRIQ4 | p.T189I | Missense | SNP | 0.496 | 3 | Gain | - |
LRRK1 | - | - | - | - | 3 | Gain | - |
LRRN1 | p.E128K | Missense | SNP | 0.212 | 2 | - | - |
LRRN2 | p.G658S | Missense | SNP | 0.790 | 3 | Gain | - |
LRRN3 | - | - | - | - | 3 | Gain | - |
LRWD1 | - | - | - | - | 3 | Gain | - |
LSAMP | - | - | - | - | 3 | Gain | - |
LSG1 | p.K450E | Missense | SNP | 0.527 | 3 | Gain | - |
LSM12 | p.P187L | Missense | SNP | 0.630 | 2 | - | - |
LSM14A | p.R42* | Nonsense | SNP | 0.258 | 2 | - | - |
LSM5 | - | - | - | - | 3 | Gain | - |
LSM8 | - | - | - | - | 3 | Gain | - |
LSMEM1 | - | - | - | - | 3 | Gain | - |
LTBP4 | p.P1491L | Missense | SNP | 0.434 | 2 | - | - |
LTK | p.S789* | Nonsense | SNP | 0.947 | 1 | Loss | - |
LUC7L2 | - | - | - | - | 3 | Gain | - |
LURAP1L | - | - | - | - | 0 | Del | - |
LUZP2 | p.M206I | Missense | SNP | 0.258 | 2 | - | - |
LUZP4 | p.G134E | Missense | SNP | 0.934 | ND | ND | - |
LUZP6 | - | - | - | - | 3 | Gain | - |
LXN | - | - | - | - | 3 | Gain | - |
LY75 | p.E1402K p.V474T | Missense Missense | SNP DNP | 0.420 0.385 | 2 | - | - |
LY9 | - | - | - | - | 3 | Gain | - |
LY96 | - | - | - | - | 3 | Gain | - |
LYPD8 | - | - | - | - | 3 | Gain | - |
LYPLAL1 | - | - | - | - | 3 | Gain | - |
LYSMD2 | - | - | - | - | 1 | Loss | - |
LYSMD4 | - | - | - | - | 3 | Gain | - |
LYST | - | - | - | - | 3 | Gain | - |
LYZL1 | - | - | - | - | 1 | Loss | - |
LYZL2 | - | - | - | - | 1 | Loss | - |
LZTR1 | p.R630L | Missense | SNP | 0.481 | 3 | Gain | - |
MAATS1 | - | - | - | - | 3 | Gain | - |
MAB21L2 | - | - | - | - | 1 | Loss | - |
MACC1 | - | - | - | - | 3 | Gain | - |
MAD1L1 | - | - | - | - | 3 | Gain | - |
MAD2L1 | - | - | - | - | 1 | Loss | - |
MAEL | - | - | - | - | 3 | Gain | - |
MAF | - | - | - | - | 1 | Loss | - |
MAFF | - | - | - | - | 3 | Gain | - |
MAFK | - | - | - | - | 3 | Gain | - |
MAG | p.A6T | Missense | SNP | 0.191 | 2 | - | - |
MAGEF1 | - | - | - | - | 3 | Gain | - |
MAGI1 | p.E354K | Missense | SNP | 0.420 | 3 | Gain | - |
MAGI2 | - | - | - | - | 3 | Gain | - |
MAL2 | - | - | - | - | 3 | Gain | - |
MALRD1 | - | - | - | - | 1 | Loss | - |
MALSU1 | - | - | - | - | 3 | Gain | - |
MAML1 | p.V111D | Missense | SNP | 0.643 | 2 | - | - |
MAMLD1 | p.S938L | Missense | SNP | 0.514 | ND | ND | - |
MAN2A2 | - | - | - | - | 3 | Gain | - |
MAN2B1 | p.A656V p.T243I | Missense Missense | DNP SNP | 0.449 0.143 | 2 | - | - |
MAN2C1 | - | - | - | - | 3 | Gain | - |
MANBA | - | - | - | - | 1 | Loss | - |
MAP10 | - | - | - | - | 3 | Gain | - |
MAP1A | p.A507V | Missense | SNP | 0.871 | 1 | Loss | - |
MAP1B | p.E1392K | Missense | SNP | 0.297 | 2 | - | - |
MAP1LC3B | - | - | - | - | 1 | Loss | - |
MAP1LC3C | - | - | - | - | 3 | Gain | - |
MAP2K1 | - | - | - | - | 3 | Gain | - |
MAP2K5 | - | - | - | - | 3 | Gain | - |
MAP3K1 | - | - | - | - | 3 | Gain | - |
MAP3K13 | - | - | - | - | 3 | Gain | - |
MAP3K21 | - | - | - | - | 3 | Gain | - |
MAP3K5 | p.F897Y | Missense | SNP | 0.668 | 2 | - | - |
MAP3K8 | - | - | - | - | 1 | Loss | - |
MAP4 | p.S749F | Missense | SNP | 0.487 | 2 | - | - |
MAP6D1 | - | - | - | - | 3 | Gain | - |
MAP7D1 | p.P492L | Missense | SNP | 0.579 | 2 | - | - |
MAP9 | - | - | - | - | 1 | Loss | - |
MAPK1 | - | - | - | - | 3 | Gain | - |
MAPK10 | - | - | - | - | 1 | Loss | - |
MAPK11 | p.G31D | Missense | SNP | 0.168 | 3 | Gain | - |
MAPK12 | - | - | - | - | 3 | Gain | - |
MAPK3 | p.H327Q | Missense | SNP | 0.175 | 2 | - | - |
MAPK6 | - | - | - | - | 1 | Loss | - |
MAPK8 | - | - | - | - | 1 | Loss | - |
MAPKAPK2 | - | - | - | - | 3 | Gain | - |
MAPKBP1 | - | - | - | - | 1 | Loss | - |
MARC1 | - | - | - | - | 3 | Gain | - |
MARC2 | - | - | - | - | 3 | Gain | - |
MARCH10 | p.S63F | Missense | SNP | 0.632 | 2 | - | - |
MARCH8 | - | - | - | - | 1 | Loss | - |
MARCO | p.G403E | Missense | SNP | 0.386 | 2 | - | - |
MARK1 | - | - | - | - | 3 | Gain | - |
MARVELD3 | - | - | - | - | 1 | Loss | - |
MASP1 | - | - | - | - | 3 | Gain | - |
MASTL | - | - | - | - | 1 | Loss | - |
MATN2 | - | - | - | - | 3 | Gain | - |
MAZ | p.X147_splice | Splice_Site | SNP | 0.486 | 2 | - | - |
MB | - | - | - | - | 3 | Gain | - |
MB21D2 | - | - | - | - | 3 | Gain | - |
MBD4 | - | - | - | - | 3 | Gain | - |
MBL2 | - | - | - | - | 1 | Loss | - |
MBLAC1 | - | - | - | - | 3 | Gain | - |
MBNL1 | - | - | - | - | 3 | Gain | - |
MBTPS1 | - | - | - | - | 1 | Loss | - |
MC1R | - | - | - | - | 1 | Loss | - |
MCAT | - | - | - | - | 3 | Gain | - |
MCCC1 | - | - | - | - | 3 | Gain | - |
MCF2 | p.P454S | Missense | SNP | 0.510 | ND | ND | - |
MCF2L2 | - | - | - | - | 3 | Gain | - |
MCHR1 | - | - | - | - | 3 | Gain | - |
MCIDAS | - | - | - | - | 3 | Gain | - |
MCM10 | - | - | - | - | 1 | Loss | - |
MCM2 | - | - | - | - | 3 | Gain | - |
MCM5 | - | - | - | - | 3 | Gain | - |
MCM7 | - | - | - | - | 3 | Gain | - |
MCMDC2 | - | - | - | - | 3 | Gain | - |
MCOLN2 | - | - | - | - | 3 | Gain | - |
MCOLN3 | p.H232N p.R231S | Missense Missense | SNP SNP | 0.730 0.737 | 3 | Gain | - |
MCTP2 | - | - | - | - | 3 | Gain | - |
MCUB | - | - | - | - | 1 | Loss | - |
MDFIC | - | - | - | - | 3 | Gain | - |
MDGA1 | p.D903Y | Missense | SNP | 0.406 | 2 | - | - |
MDGA2 | p.R207* | Nonsense | SNP | 0.696 | 2 | - | - |
MDH2 | - | - | - | - | 3 | Gain | - |
MDM4 | - | - | - | - | 3 | Gain | - |
ME1 | p.R254C | Missense | SNP | 0.500 | 2 | - | - |
ME3 | p.Y243N | Missense | SNP | 0.589 | 2 | - | - |
MECOM | p.E722K | Missense | SNP | 0.396 | 3 | Gain | - |
MED12L | p.P2040S | Missense | SNP | 0.481 | 3 | Gain | - |
MED13 | p.P634L | Missense | SNP | 0.296 | 2 | - | - |
MED15 | - | - | - | - | 3 | Gain | - |
MED30 | - | - | - | - | 3 | Gain | - |
MEF2A | - | - | - | - | 3 | Gain | - |
MEF2D | - | - | - | - | 3 | Gain | - |
MEGF10 | p.G426E | Missense | SNP | 0.383 | 2 | - | - |
MEGF11 | - | - | - | - | 3 | Gain | - |
MEI1 | - | - | - | - | 3 | Gain | - |
MEIG1 | - | - | - | - | 1 | Loss | - |
MEIS2 | - | - | - | - | 1 | Loss | - |
MELTF | p.S268F | Missense | SNP | 0.484 | 3 | Gain | - |
MEOX1 | p.P97L | Missense | SNP | 0.287 | 2 | - | - |
MEOX2 | - | - | - | - | 3 | Gain | - |
MEPCE | - | - | - | - | 3 | Gain | - |
MEPE | - | - | - | - | 1 | Loss | - |
MERTK | p.F115L | Missense | SNP | 0.269 | 2 | - | - |
MESD | - | - | - | - | 3 | Gain | - |
MESP1 | - | - | - | - | 3 | Gain | - |
MESP2 | - | - | - | - | 3 | Gain | - |
MEST | - | - | - | - | 3 | Gain | - |
MET | - | - | - | - | 3 | Gain | - |
METAP1 | - | - | - | - | 1 | Loss | - |
METTL11B | - | - | - | - | 3 | Gain | - |
METTL13 | - | - | - | - | 3 | Gain | - |
METTL14 | - | - | - | - | 1 | Loss | - |
METTL18 | - | - | - | - | 3 | Gain | - |
METTL27 | - | - | - | - | 3 | Gain | - |
METTL2B | - | - | - | - | 3 | Gain | - |
METTL4 | p.P320S | Missense | SNP | 0.204 | 2 | - | - |
MEX3A | - | - | - | - | 3 | Gain | - |
MEX3B | - | - | - | - | 3 | Gain | - |
MFAP1 | - | - | - | - | 1 | Loss | - |
MFAP5 | p.E133K | Missense | SNP | 0.552 | 2 | - | - |
MFGE8 | - | - | - | - | 3 | Gain | - |
MFN1 | - | - | - | - | 3 | Gain | - |
MFNG | - | - | - | - | 3 | Gain | - |
MFRP | p.E544K | Missense | SNP | 0.632 | 2 | - | - |
MFSD1 | - | - | - | - | 3 | Gain | - |
MFSD14A | - | - | - | - | 3 | Gain | - |
MFSD4A | - | - | - | - | 3 | Gain | - |
MGA | - | - | - | - | 1 | Loss | - |
MGAM | p.K134T p.G294R p.P1329S p.P1514S | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.155 0.652 0.329 0.393 | 3 | Gain | - |
MGAM2 | p.S560F p.E1092K p.G1667R | Missense Missense Missense | SNP SNP SNP | 0.143 0.289 0.398 | 3 | Gain | - |
MGAT3 | - | - | - | - | 3 | Gain | - |
MGLL | - | - | - | - | 3 | Gain | - |
MGST3 | - | - | - | - | 3 | Gain | - |
MIA3 | - | - | - | - | 3 | Gain | - |
MICAL3 | - | - | - | - | 3 | Gain | - |
MICALL1 | - | - | - | - | 3 | Gain | - |
MICALL2 | - | - | - | - | 3 | Gain | - |
MIEF1 | - | - | - | - | 3 | Gain | - |
MIER1 | - | - | - | - | 3 | Gain | - |
MIER3 | - | - | - | - | 3 | Gain | - |
MIF | - | - | - | - | 3 | Gain | - |
MIGA1 | - | - | - | - | 3 | Gain | - |
MINDY2 | - | - | - | - | 3 | Gain | - |
MINDY3 | - | - | - | - | 1 | Loss | - |
MINDY4 | - | - | - | - | 3 | Gain | - |
MINDY4B | - | - | - | - | 3 | Gain | - |
MIOS | - | - | - | - | 3 | Gain | - |
MITF | - | - | - | - | 3 | Gain | - |
MIXL1 | - | - | - | - | 3 | Gain | - |
MKLN1 | - | - | - | - | 3 | Gain | - |
MKRN1 | - | - | - | - | 3 | Gain | - |
MKRN3 | p.P64S | Missense | SNP | 0.235 | 2 | - | - |
MKX | - | - | - | - | 1 | Loss | - |
MLANA | - | - | - | - | 0 | Del | - |
MLC1 | - | - | - | - | 3 | Gain | - |
MLF1 | - | - | - | - | 3 | Gain | - |
MLKL | - | - | - | - | 1 | Loss | - |
MLLT10 | - | - | - | - | 1 | Loss | - |
MLLT3 | - | - | - | - | 0 | Del | - |
MLXIPL | - | - | - | - | 3 | Gain | - |
MLYCD | - | - | - | - | 1 | Loss | - |
MMD2 | - | - | - | - | 3 | Gain | - |
MME | - | - | - | - | 3 | Gain | - |
MMP11 | - | - | - | - | 3 | Gain | - |
MMP15 | - | - | - | - | 1 | Loss | - |
MMP16 | - | - | - | - | 3 | Gain | - |
MMP2 | - | - | - | - | 1 | Loss | - |
MMP24 | p.D318N | Missense | SNP | 0.462 | 2 | - | - |
MMRN1 | - | - | - | - | 1 | Loss | - |
MN1 | - | - | - | - | 3 | Gain | - |
MND1 | - | - | - | - | 1 | Loss | - |
MNDA | - | - | - | - | 3 | Gain | - |
MNS1 | - | - | - | - | 3 | Gain | - |
MNX1 | - | - | - | - | 3 | Gain | - |
MOB2 | p.P15L | Missense | SNP | 0.200 | 2 | - | - |
MOB3B | - | - | - | - | 0 | Del | - |
MOCOS | p.L328R | Missense | SNP | 0.463 | 2 | - | - |
MOCS1 | p.D340N | Missense | SNP | 0.711 | 2 | - | - |
MOCS2 | - | - | - | - | 3 | Gain | - |
MOGAT3 | - | - | - | - | 3 | Gain | - |
MOGS | p.R535* | Nonsense | DNP | 0.511 | 2 | - | - |
MON1B | - | - | - | - | 1 | Loss | - |
MORC1 | p.K911I p.E590K p.N413Y p.M250I | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.457 0.205 0.427 0.299 | 3 | Gain | - |
MORC2 | - | - | - | - | 3 | Gain | - |
MORF4L1 | - | - | - | - | 3 | Gain | - |
MOSPD3 | - | - | - | - | 3 | Gain | - |
MOV10L1 | p.R440Q | Missense | SNP | 0.232 | 3 | Gain | - |
MPC2 | - | - | - | - | 3 | Gain | - |
MPDZ | - | - | - | - | 0 | Del | - |
MPHOSPH6 | - | - | - | - | 1 | Loss | - |
MPI | - | - | - | - | 3 | Gain | - |
MPLKIP | - | - | - | - | 3 | Gain | - |
MPP6 | - | - | - | - | 3 | Gain | - |
MPP7 | - | - | - | - | 1 | Loss | - |
MPPED1 | - | - | - | - | 3 | Gain | - |
MPST | - | - | - | - | 3 | Gain | - |
MPZ | - | - | - | - | 3 | Gain | - |
MPZL1 | - | - | - | - | 3 | Gain | - |
MR1 | - | - | - | - | 3 | Gain | - |
MRAS | - | - | - | - | 3 | Gain | - |
MRC1 | - | - | - | - | 1 | Loss | - |
MRM2 | - | - | - | - | 3 | Gain | - |
MROH2B | - | - | - | - | 3 | Gain | - |
MROH9 | p.L177V p.G761E | Missense Missense | SNP SNP | 0.370 0.317 | 3 | Gain | - |
MRPL1 | - | - | - | - | 1 | Loss | - |
MRPL13 | - | - | - | - | 3 | Gain | - |
MRPL24 | - | - | - | - | 3 | Gain | - |
MRPL3 | - | - | - | - | 3 | Gain | - |
MRPL32 | - | - | - | - | 3 | Gain | - |
MRPL4 | - | - | - | - | 3 | Gain | - |
MRPL40 | - | - | - | - | 3 | Gain | - |
MRPL46 | - | - | - | - | 3 | Gain | - |
MRPL47 | - | - | - | - | 3 | Gain | - |
MRPL51 | p.P18L | Missense | SNP | 0.265 | 2 | - | - |
MRPL55 | - | - | - | - | 3 | Gain | - |
MRPS11 | - | - | - | - | 3 | Gain | - |
MRPS14 | - | - | - | - | 3 | Gain | - |
MRPS17 | - | - | - | - | 3 | Gain | - |
MRPS18C | - | - | - | - | 1 | Loss | - |
MRPS22 | - | - | - | - | 3 | Gain | - |
MRPS24 | - | - | - | - | 3 | Gain | - |
MRPS28 | - | - | - | - | 3 | Gain | - |
MRPS30 | - | - | - | - | 3 | Gain | - |
MRPS33 | - | - | - | - | 3 | Gain | - |
MRTFA | - | - | - | - | 3 | Gain | - |
MRVI1 | p.A108T | Missense | SNP | 0.259 | 2 | - | - |
MS4A1 | p.M71I | Missense | SNP | 0.301 | 2 | - | - |
MS4A3 | p.G103E | Missense | SNP | 0.317 | 2 | - | - |
MSC | - | - | - | - | 3 | Gain | - |
MSH4 | - | - | - | - | 3 | Gain | - |
MSL2 | - | - | - | - | 3 | Gain | - |
MSMB | - | - | - | - | 1 | Loss | - |
MSRB2 | - | - | - | - | 1 | Loss | - |
MST1 | - | - | - | - | 1 | Loss | - |
MSTO1 | - | - | - | - | 3 | Gain | - |
MT1A | - | - | - | - | 1 | Loss | - |
MT1B | - | - | - | - | 1 | Loss | - |
MT1E | - | - | - | - | 1 | Loss | - |
MT1F | - | - | - | - | 1 | Loss | - |
MT1G | - | - | - | - | 1 | Loss | - |
MT1H | - | - | - | - | 1 | Loss | - |
MT1HL1 | - | - | - | - | 3 | Gain | - |
MT1M | - | - | - | - | 1 | Loss | - |
MT1X | - | - | - | - | 1 | Loss | - |
MT2A | - | - | - | - | 1 | Loss | - |
MT3 | - | - | - | - | 1 | Loss | - |
MT4 | - | - | - | - | 1 | Loss | - |
MTAP | - | - | - | - | 0 | Del | - |
MTBP | - | - | - | - | 3 | Gain | - |
MTDH | - | - | - | - | 3 | Gain | - |
MTERF1 | - | - | - | - | 3 | Gain | - |
MTERF3 | p.S126L | Missense | SNP | 0.285 | 3 | Gain | - |
MTF2 | - | - | - | - | 3 | Gain | - |
MTFMT | - | - | - | - | 3 | Gain | - |
MTFP1 | - | - | - | - | 3 | Gain | - |
MTFR1 | - | - | - | - | 3 | Gain | - |
MTHFS | - | - | - | - | 3 | Gain | - |
MTHFSD | - | - | - | - | 1 | Loss | - |
MTMR12 | - | - | - | - | 3 | Gain | - |
MTMR2 | p.S49F | Missense | SNP | 0.560 | 2 | - | - |
MTMR3 | - | - | - | - | 3 | Gain | - |
MTPAP | - | - | - | - | 1 | Loss | - |
MTPN | - | - | - | - | 3 | Gain | - |
MTR | - | - | - | - | 3 | Gain | - |
MTREX | - | - | - | - | 3 | Gain | - |
MTSS1L | - | - | - | - | 1 | Loss | - |
MTTP | p.P526L | Missense | SNP | 0.956 | 1 | Loss | - |
MTURN | - | - | - | - | 3 | Gain | - |
MTUS2 | p.E466K p.P543S | Missense Missense | SNP SNP | 0.256 0.554 | 2 | - | - |
MTX1 | - | - | - | - | 3 | Gain | - |
MUC1 | - | - | - | - | 3 | Gain | - |
MUC12 | p.E274K p.E1323K | Missense Missense | SNP SNP | 0.579 1.000 | 3 | Gain | - |
MUC13 | - | - | - | - | 3 | Gain | - |
MUC16 | p.X13826_splice p.T12742S p.E12105K p.S11896F p.P11354S p.E11068K p.H9807Y p.P9741S p.S9567F p.P9259S p.E7683K p.V7653I p.H7472Y p.S7242F p.E7091K p.S6543L p.P5623L p.P5119S p.G3608E p.G3303E p.E2974K p.P2206S p.I1047T p.S744L p.R100K | Splice_Site Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP | 0.395 0.145 0.562 0.392 0.231 0.205 0.163 0.200 0.442 0.287 0.483 0.232 0.192 0.531 0.203 0.428 0.462 0.286 0.204 0.421 0.412 0.381 0.446 0.410 0.469 | 2 | - | - |
MUC17 | p.S1742L p.G2336R p.S3438L p.S4104F | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.281 0.181 0.179 0.166 | 3 | Gain | - |
MUC20 | - | - | - | - | 3 | Gain | - |
MUC3A | p.C128W | Missense | SNP | 0.267 | 3 | Gain | - |
MUC4 | p.G4543A p.T3124I | Missense Missense | SNP SNP | 0.420 0.164 | 3 | Gain | - |
MUT | p.P234S | Missense | SNP | 0.231 | 2 | - | - |
MVD | - | - | - | - | 1 | Loss | - |
MVP | p.R456C | Missense | DNP | 0.398 | 2 | - | - |
MX2 | p.P163S | Missense | SNP | 0.389 | 2 | - | - |
MXRA5 | p.N1735S p.K793T p.S454F | Missense Missense Missense | SNP SNP SNP | 0.967 0.473 0.970 | ND | ND | - |
MYBL1 | - | - | - | - | 3 | Gain | - |
MYBPC3 | p.G118E | Missense | SNP | 0.535 | 2 | - | - |
MYBPH | - | - | - | - | 3 | Gain | - |
MYEF2 | - | - | - | - | 1 | Loss | - |
MYH1 | p.E1744Q p.G1524E p.R791Q | Missense Missense Missense | SNP SNP SNP | 0.664 0.470 0.296 | 2 | - | - |
MYH15 | p.E895D | Missense | SNP | 0.467 | 3 | Gain | - |
MYH2 | p.S1476F | Missense | SNP | 0.266 | 2 | - | - |
MYH6 | p.E1586K p.E874K p.E375K | Missense Missense Missense | SNP SNP SNP | 0.381 0.264 0.690 | 1 | Loss | - |
MYH7 | p.E944K | Missense | SNP | 0.626 | 1 | Loss | - |
MYH9 | - | - | - | - | 3 | Gain | - |
MYL10 | - | - | - | - | 3 | Gain | - |
MYL7 | - | - | - | - | 3 | Gain | - |
MYLK | - | - | - | - | 3 | Gain | - |
MYLK3 | - | - | - | - | 1 | Loss | - |
MYNN | - | - | - | - | 3 | Gain | - |
MYO15A | p.H422Y p.P506L | Missense Missense | SNP SNP | 0.283 0.269 | 2 | - | - |
MYO18B | - | - | - | - | 3 | Gain | - |
MYO1E | - | - | - | - | 3 | Gain | - |
MYO1G | - | - | - | - | 3 | Gain | - |
MYO3A | p.R973W | Missense | SNP | 0.938 | 1 | Loss | - |
MYO3B | p.G1090R | Missense | SNP | 0.450 | 2 | - | - |
MYO5A | - | - | - | - | 1 | Loss | - |
MYO5B | p.E1255K | Missense | SNP | 0.502 | 2 | - | - |
MYO5C | - | - | - | - | 1 | Loss | - |
MYO7A | p.M1644I | Missense | SNP | 0.337 | 2 | - | - |
MYO9A | - | - | - | - | 1 | Loss | - |
MYOC | - | - | - | - | 3 | Gain | - |
MYOCD | p.S891F | Missense | SNP | 0.254 | 2 | - | - |
MYOCOS | - | - | - | - | 3 | Gain | - |
MYOG | - | - | - | - | 3 | Gain | - |
MYOM2 | p.E751K | Missense | SNP | 0.402 | 2 | - | - |
MYOZ2 | - | - | - | - | 1 | Loss | - |
MYRFL | p.K652I | Missense | SNP | 0.248 | 2 | - | - |
MYSM1 | p.P558S | Missense | SNP | 0.328 | 3 | Gain | - |
MYT1L | p.E450K | Missense | SNP | 0.492 | 2 | - | - |
MYZAP | - | - | - | - | 3 | Gain | - |
N4BP1 | - | - | - | - | 1 | Loss | - |
NAA11 | - | - | - | - | 1 | Loss | - |
NAA50 | - | - | - | - | 3 | Gain | - |
NAAA | - | - | - | - | 1 | Loss | - |
NAALADL2 | - | - | - | - | 3 | Gain | - |
NACAD | - | - | - | - | 3 | Gain | - |
NADK2 | - | - | - | - | 3 | Gain | - |
NAE1 | - | - | - | - | 1 | Loss | - |
NAGA | - | - | - | - | 3 | Gain | - |
NAMPT | - | - | - | - | 3 | Gain | - |
NANOGP8 | - | - | - | - | 1 | Loss | - |
NAP1L5 | - | - | - | - | 1 | Loss | - |
NAPEPLD | - | - | - | - | 3 | Gain | - |
NAT16 | - | - | - | - | 3 | Gain | - |
NAV1 | - | - | - | - | 3 | Gain | - |
NAXE | - | - | - | - | 3 | Gain | - |
NBEAL1 | p.P2477S | Missense | SNP | 0.309 | 2 | - | - |
NBN | - | - | - | - | 3 | Gain | - |
NBPF12 | p.S681F | Missense | SNP | 0.812 | 2 | - | - |
NCALD | - | - | - | - | 3 | Gain | - |
NCAPD3 | p.H690Y | Missense | SNP | 0.671 | 2 | - | - |
NCAPG2 | - | - | - | - | 3 | Gain | - |
NCBP2 | - | - | - | - | 3 | Gain | - |
NCBP2-AS2 | - | - | - | - | 3 | Gain | - |
NCEH1 | - | - | - | - | 3 | Gain | - |
NCF1 | - | - | - | - | 3 | Gain | - |
NCF2 | - | - | - | - | 3 | Gain | - |
NCF4 | - | - | - | - | 3 | Gain | - |
NCK1 | - | - | - | - | 3 | Gain | - |
NCLN | p.E7A | Missense | SNP | 0.500 | 2 | - | - |
NCOA2 | p.R338C | Missense | SNP | 0.453 | 3 | Gain | - |
NCOA3 | p.G1152E | Missense | SNP | 0.210 | 2 | - | - |
NCOA4 | - | - | - | - | 1 | Loss | - |
NCSTN | - | - | - | - | 3 | Gain | - |
NDC1 | p.R644Q | Missense | SNP | 0.743 | 2 | - | - |
NDN | p.P83S | Missense | SNP | 0.255 | 2 | - | - |
NDNF | - | - | - | - | 1 | Loss | - |
NDRG4 | - | - | - | - | 1 | Loss | - |
NDST3 | - | - | - | - | 1 | Loss | - |
NDST4 | - | - | - | - | 1 | Loss | - |
NDUFA4 | - | - | - | - | 3 | Gain | - |
NDUFA5 | - | - | - | - | 3 | Gain | - |
NDUFA6 | - | - | - | - | 3 | Gain | - |
NDUFAF1 | - | - | - | - | 1 | Loss | - |
NDUFAF6 | - | - | - | - | 3 | Gain | - |
NDUFB2 | - | - | - | - | 3 | Gain | - |
NDUFB4 | - | - | - | - | 3 | Gain | - |
NDUFB5 | - | - | - | - | 3 | Gain | - |
NDUFB6 | - | - | - | - | 0 | Del | - |
NDUFS1 | p.R166* | Nonsense | DNP | 0.403 | 2 | - | - |
NDUFS2 | p.X404_splice | Splice_Site | SNP | 0.163 | 3 | Gain | - |
NDUFS4 | - | - | - | - | 3 | Gain | - |
NEBL | - | - | - | - | 1 | Loss | - |
NECAB1 | - | - | - | - | 3 | Gain | - |
NECAB2 | - | - | - | - | 1 | Loss | - |
NECAP2 | p.W42* | Nonsense | SNP | 0.686 | 2 | - | - |
NECTIN3 | - | - | - | - | 3 | Gain | - |
NECTIN4 | - | - | - | - | 3 | Gain | - |
NEDD4 | - | - | - | - | 3 | Gain | - |
NEFH | - | - | - | - | 3 | Gain | - |
NEGR1 | - | - | - | - | 3 | Gain | - |
NEIL1 | - | - | - | - | 3 | Gain | - |
NEK11 | - | - | - | - | 3 | Gain | - |
NEK2 | p.R190C | Missense | SNP | 0.856 | 3 | Gain | - |
NEK4 | - | - | - | - | 3 | Gain | - |
NEK7 | - | - | - | - | 3 | Gain | - |
NELFCD | p.L229F | Missense | DNP | 0.534 | 2 | - | - |
NELL2 | p.G612D | Missense | SNP | 0.526 | 2 | - | - |
NEMP1 | p.S372F | Missense | SNP | 0.314 | 2 | - | - |
NENF | - | - | - | - | 3 | Gain | - |
NEO1 | - | - | - | - | 3 | Gain | - |
NEPRO | - | - | - | - | 3 | Gain | - |
NES | - | - | - | - | 3 | Gain | - |
NET1 | - | - | - | - | 1 | Loss | - |
NETO2 | - | - | - | - | 1 | Loss | - |
NEURL1 | p.H66Y | Missense | SNP | 0.536 | 2 | - | - |
NEUROD4 | p.S295L | Missense | SNP | 0.318 | 2 | - | - |
NEUROD6 | - | - | - | - | 3 | Gain | - |
NEUROG2 | - | - | - | - | 1 | Loss | - |
NEXN | - | - | - | - | 3 | Gain | - |
NF2 | - | - | - | - | 3 | Gain | - |
NFAM1 | - | - | - | - | 3 | Gain | - |
NFASC | - | - | - | - | 3 | Gain | - |
NFAT5 | - | - | - | - | 1 | Loss | - |
NFATC3 | - | - | - | - | 1 | Loss | - |
NFE2L3 | - | - | - | - | 3 | Gain | - |
NFE4 | - | - | - | - | 3 | Gain | - |
NFIA | - | - | - | - | 3 | Gain | - |
NFIB | - | - | - | - | 0 | Del | - |
NFKB1 | - | - | - | - | 1 | Loss | - |
NFKBIZ | - | - | - | - | 3 | Gain | - |
NFX1 | - | - | - | - | 0 | Del | - |
NGDN | - | - | - | - | 1 | Loss | - |
NGRN | - | - | - | - | 3 | Gain | - |
NHLH1 | p.R55W | Missense | DNP | 0.741 | 3 | Gain | - |
NHSL1 | p.S1578F | Missense | SNP | 0.262 | 2 | - | - |
NID1 | - | - | - | - | 3 | Gain | - |
NID2 | p.G872S | Missense | SNP | 0.339 | 2 | - | - |
NIM1K | - | - | - | - | 3 | Gain | - |
NIP7 | - | - | - | - | 1 | Loss | - |
NIPAL2 | - | - | - | - | 3 | Gain | - |
NIPBL | - | - | - | - | 3 | Gain | - |
NIPSNAP1 | - | - | - | - | 3 | Gain | - |
NIPSNAP2 | - | - | - | - | 3 | Gain | - |
NIT1 | - | - | - | - | 3 | Gain | - |
NIT2 | - | - | - | - | 3 | Gain | - |
NKAIN3 | - | - | - | - | 3 | Gain | - |
NKD1 | - | - | - | - | 1 | Loss | - |
NKD2 | p.P54S | Missense | SNP | 0.488 | 2 | - | - |
NKX2-6 | p.G279E | Missense | SNP | 0.285 | 2 | - | - |
NKX3-2 | p.G233E | Missense | SNP | 0.254 | 2 | - | - |
NKX6-1 | - | - | - | - | 1 | Loss | - |
NLGN1 | - | - | - | - | 3 | Gain | - |
NLGN4X | p.R669Q | Missense | SNP | 0.444 | ND | ND | - |
NLRC4 | p.D299N | Missense | SNP | 0.230 | 2 | - | - |
NLRC5 | - | - | - | - | 1 | Loss | - |
NLRP1 | p.D639N | Missense | SNP | 0.353 | 2 | - | - |
NLRP11 | p.H117Y | Missense | SNP | 0.237 | 2 | - | - |
NLRP13 | p.E1019K | Missense | SNP | 0.453 | 2 | - | - |
NLRP3 | - | - | - | - | 3 | Gain | - |
NLRP4 | p.P243L p.E482K | Missense Missense | SNP SNP | 0.497 0.229 | 2 | - | - |
NLRP5 | p.G903E | Missense | SNP | 0.464 | 2 | - | - |
NLRP8 | p.P11L p.L389F | Missense Missense | SNP SNP | 0.386 0.279 | 2 | - | - |
NMB | - | - | - | - | 3 | Gain | - |
NMD3 | - | - | - | - | 3 | Gain | - |
NME7 | p.I344V | Missense | SNP | 0.143 | 3 | Gain | - |
NME8 | - | - | - | - | 3 | Gain | - |
NME9 | - | - | - | - | 3 | Gain | - |
NMNAT2 | - | - | - | - | 3 | Gain | - |
NMNAT3 | - | - | - | - | 3 | Gain | - |
NMT2 | - | - | - | - | 1 | Loss | - |
NNT | p.S1044F | Missense | SNP | 0.438 | 3 | Gain | - |
NOB1 | - | - | - | - | 1 | Loss | - |
NOBOX | - | - | - | - | 3 | Gain | - |
NOD1 | - | - | - | - | 3 | Gain | - |
NOD2 | - | - | - | - | 1 | Loss | - |
NOL12 | - | - | - | - | 3 | Gain | - |
NOL3 | - | - | - | - | 1 | Loss | - |
NOL4 | p.E421K | Missense | SNP | 0.308 | 2 | - | - |
NOL6 | - | - | - | - | 0 | Del | - |
NOM1 | - | - | - | - | 3 | Gain | - |
NOP10 | - | - | - | - | 1 | Loss | - |
NOP2 | p.A719V p.S328F | Missense Missense | SNP SNP | 0.621 0.312 | 2 | - | - |
NOS1AP | - | - | - | - | 3 | Gain | - |
NOS2 | p.R740W p.G64E | Missense Missense | SNP SNP | 0.622 0.255 | 2 | - | - |
NOS3 | p.D686N p.C853G | Missense Missense | SNP SNP | 0.188 0.395 | 3 | Gain | - |
NOV | - | - | - | - | 3 | Gain | - |
NOVA1 | p.G381E | Missense | SNP | 0.291 | 2 | - | - |
NOX5 | - | - | - | - | 3 | Gain | - |
NPAP1 | p.G89D p.P423L | Missense Missense | SNP SNP | 0.238 0.252 | 2 | - | - |
NPC1L1 | - | - | - | - | 3 | Gain | - |
NPHP1 | p.D162A | Missense | SNP | 0.556 | 2 | - | - |
NPHP3 | - | - | - | - | 3 | Gain | - |
NPHP3-ACAD11 | - | - | - | - | 3 | Gain | - |
NPHP4 | p.P1157S | Missense | SNP | 0.711 | 2 | - | - |
NPHS2 | p.M187I | Missense | SNP | 0.186 | 3 | Gain | - |
NPIPB15 | - | - | - | - | 1 | Loss | - |
NPL | - | - | - | - | 3 | Gain | - |
NPNT | - | - | - | - | 1 | Loss | - |
NPR1 | - | - | - | - | 3 | Gain | - |
NPSR1 | - | - | - | - | 3 | Gain | - |
NPTN | - | - | - | - | 3 | Gain | - |
NPTX2 | - | - | - | - | 3 | Gain | - |
NPTXR | p.X284_splice | Splice_Site | SNP | 0.264 | 3 | Gain | - |
NPVF | - | - | - | - | 3 | Gain | - |
NPY | - | - | - | - | 3 | Gain | - |
NPY1R | p.G158S | Missense | SNP | 0.121 | 2 | - | - |
NPY2R | p.D42N | Missense | SNP | 0.474 | 1 | Loss | - |
NPY4R | - | - | - | - | 1 | Loss | - |
NPY4R2 | - | - | - | - | 1 | Loss | - |
NQO1 | - | - | - | - | 1 | Loss | - |
NR1I2 | - | - | - | - | 3 | Gain | - |
NR1I3 | - | - | - | - | 3 | Gain | - |
NR2E3 | - | - | - | - | 1 | Loss | - |
NR2F2 | - | - | - | - | 3 | Gain | - |
NR5A2 | - | - | - | - | 3 | Gain | - |
NRAS | p.E62Q p.Q61R | Missense Missense | SNP SNP | 0.740 0.729 | 2 | - | - |
NRCAM | - | - | - | - | 3 | Gain | - |
NRF1 | - | - | - | - | 3 | Gain | - |
NRG1 | p.G13D | Missense | SNP | 0.677 | 2 | - | - |
NRG4 | - | - | - | - | 3 | Gain | - |
NRK | p.E549T | Missense | DNP | 0.522 | ND | ND | - |
NRN1L | - | - | - | - | 1 | Loss | - |
NRP1 | - | - | - | - | 1 | Loss | - |
NRROS | - | - | - | - | 3 | Gain | - |
NRXN1 | p.E139K | Missense | SNP | 0.479 | 2 | - | - |
NRXN2 | p.P1604S | Missense | DNP | 0.604 | 2 | - | - |
NSL1 | - | - | - | - | 3 | Gain | - |
NSMAF | - | - | - | - | 3 | Gain | - |
NSUN3 | - | - | - | - | 3 | Gain | - |
NSUN5 | - | - | - | - | 3 | Gain | - |
NSUN6 | - | - | - | - | 1 | Loss | - |
NT5C3A | - | - | - | - | 3 | Gain | - |
NTNG1 | - | - | - | - | 3 | Gain | - |
NTPCR | - | - | - | - | 3 | Gain | - |
NTRK1 | - | - | - | - | 3 | Gain | - |
NTRK3 | p.R116W | Missense | SNP | 0.151 | 3 | Gain | - |
NUAK2 | - | - | - | - | 3 | Gain | - |
NUB1 | - | - | - | - | 3 | Gain | - |
NUCKS1 | - | - | - | - | 3 | Gain | - |
NUDCD1 | - | - | - | - | 3 | Gain | - |
NUDCD3 | - | - | - | - | 3 | Gain | - |
NUDT1 | - | - | - | - | 3 | Gain | - |
NUDT16 | - | - | - | - | 3 | Gain | - |
NUDT21 | - | - | - | - | 1 | Loss | - |
NUDT5 | - | - | - | - | 1 | Loss | - |
NUDT6 | - | - | - | - | 1 | Loss | - |
NUDT7 | - | - | - | - | 1 | Loss | - |
NUDT9 | p.M295I | Missense | SNP | 0.880 | 1 | Loss | - |
NUF2 | - | - | - | - | 3 | Gain | - |
NUP133 | - | - | - | - | 3 | Gain | - |
NUP155 | - | - | - | - | 3 | Gain | - |
NUP205 | - | - | - | - | 5 | Amp | - |
NUP210L | p.R1559G | Missense | SNP | 0.801 | 3 | Gain | - |
NUP50 | - | - | - | - | 3 | Gain | - |
NUP54 | - | - | - | - | 1 | Loss | - |
NUP62CL | p.Y166C | Missense | SNP | 0.446 | ND | ND | - |
NUP88 | p.F69Y | Missense | SNP | 0.323 | 2 | - | - |
NUP93 | - | - | - | - | 1 | Loss | - |
NUPL2 | - | - | - | - | 3 | Gain | - |
NUPR2 | - | - | - | - | 3 | Gain | - |
NUSAP1 | - | - | - | - | 1 | Loss | - |
NUTF2 | - | - | - | - | 1 | Loss | - |
NUTM1 | p.P77L | Missense | SNP | 0.449 | 1 | Loss | - |
NVL | - | - | - | - | 3 | Gain | - |
NWD2 | p.R42W p.W1169* | Missense Nonsense | SNP SNP | 0.210 0.269 | 2 | - | - |
NXF5 | p.R320Q | Missense | SNP | 0.504 | ND | ND | - |
NXPE3 | - | - | - | - | 3 | Gain | - |
NXPH1 | p.S228F | Missense | SNP | 0.299 | 3 | Gain | - |
NXPH3 | p.G289R | Missense | SNP | 0.297 | 2 | - | - |
NYAP1 | - | - | - | - | 3 | Gain | - |
NYAP2 | p.P340S | Missense | SNP | 0.241 | 2 | - | - |
OAZ2 | - | - | - | - | 3 | Gain | - |
OBSCN | - | - | - | - | 3 | Gain | - |
OCLM | - | - | - | - | 3 | Gain | - |
OCM | - | - | - | - | 3 | Gain | - |
OCM2 | - | - | - | - | 3 | Gain | - |
ODAM | p.G102E | Missense | SNP | 0.186 | 2 | - | - |
ODAPH | - | - | - | - | 1 | Loss | - |
ODF1 | - | - | - | - | 3 | Gain | - |
ODF2L | - | - | - | - | 3 | Gain | - |
ODF3L1 | - | - | - | - | 3 | Gain | - |
ODR4 | - | - | - | - | 3 | Gain | - |
OGDH | - | - | - | - | 3 | Gain | - |
OGDHL | - | - | - | - | 1 | Loss | - |
OGFOD1 | - | - | - | - | 1 | Loss | - |
OIP5 | - | - | - | - | 1 | Loss | - |
OLAH | - | - | - | - | 1 | Loss | - |
OLFM2 | - | - | - | - | 3 | Gain | - |
OLFM3 | - | - | - | - | 3 | Gain | - |
OLFML2B | p.G27E | Missense | SNP | 0.131 | 3 | Gain | - |
OMA1 | - | - | - | - | 3 | Gain | - |
ONECUT1 | - | - | - | - | 3 | Gain | - |
OPA1 | - | - | - | - | 3 | Gain | - |
OPN1SW | - | - | - | - | 3 | Gain | - |
OPN3 | - | - | - | - | 3 | Gain | - |
OPRK1 | p.A308V | Missense | SNP | 0.269 | 2 | - | - |
OPTC | - | - | - | - | 3 | Gain | - |
OPTN | - | - | - | - | 1 | Loss | - |
OR10A3 | p.M136I | Missense | SNP | 0.642 | 2 | - | - |
OR10J1 | - | - | - | - | 3 | Gain | - |
OR10J3 | p.S149L | Missense | SNP | 0.134 | 3 | Gain | - |
OR10J5 | - | - | - | - | 3 | Gain | - |
OR10K1 | - | - | - | - | 3 | Gain | - |
OR10K2 | - | - | - | - | 3 | Gain | - |
OR10R2 | - | - | - | - | 3 | Gain | - |
OR10T2 | - | - | - | - | 3 | Gain | - |
OR10X1 | - | - | - | - | 3 | Gain | - |
OR10Z1 | - | - | - | - | 3 | Gain | - |
OR11L1 | - | - | - | - | 3 | Gain | - |
OR13A1 | - | - | - | - | 1 | Loss | - |
OR13C3 | p.A335T p.D24N | Missense Missense | SNP SNP | 0.667 0.534 | 2 | - | - |
OR13C5 | p.M185I | Missense | SNP | 0.947 | 2 | - | - |
OR13C7 | p.G235E | Missense | SNP | 0.974 | ND | ND | - |
OR13G1 | - | - | - | - | 3 | Gain | - |
OR14A16 | p.S79F | Missense | SNP | 0.367 | 3 | Gain | - |
OR14A2 | p.S104F | Missense | SNP | 0.170 | 3 | Gain | - |
OR14C36 | p.G39R p.G39E | Missense Missense | SNP SNP | 0.108 0.169 | 3 | Gain | - |
OR14I1 | - | - | - | - | 3 | Gain | - |
OR14J1 | p.S65F | Missense | SNP | 0.693 | 2 | - | - |
OR14K1 | - | - | - | - | 3 | Gain | - |
OR1C1 | - | - | - | - | 3 | Gain | - |
OR1E2 | p.R50* | Nonsense | SNP | 0.378 | 2 | - | - |
OR1F1 | p.G147R | Missense | SNP | 0.545 | 2 | - | - |
OR1L4 | p.D71N | Missense | SNP | 0.632 | 2 | - | - |
OR2A12 | - | - | - | - | 3 | Gain | - |
OR2A14 | - | - | - | - | 3 | Gain | - |
OR2A2 | - | - | - | - | 3 | Gain | - |
OR2A25 | - | - | - | - | 3 | Gain | - |
OR2A5 | - | - | - | - | 3 | Gain | - |
OR2AE1 | - | - | - | - | 3 | Gain | - |
OR2AJ1 | - | - | - | - | 3 | Gain | - |
OR2AK2 | - | - | - | - | 3 | Gain | - |
OR2B11 | - | - | - | - | 3 | Gain | - |
OR2B6 | p.C76* | Nonsense | DNP | 0.326 | 2 | - | - |
OR2C3 | - | - | - | - | 3 | Gain | - |
OR2F1 | - | - | - | - | 3 | Gain | - |
OR2F2 | - | - | - | - | 3 | Gain | - |
OR2G2 | - | - | - | - | 3 | Gain | - |
OR2G3 | p.L27F | Missense | SNP | 0.765 | 3 | Gain | - |
OR2G6 | - | - | - | - | 3 | Gain | - |
OR2J2 | p.E197K | Missense | SNP | 0.610 | 2 | - | - |
OR2L13 | p.S92F | Missense | SNP | 0.128 | 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 | - |
OR2T1 | - | - | - | - | 3 | Gain | - |
OR2T10 | - | - | - | - | 3 | Gain | - |
OR2T11 | - | - | - | - | 3 | Gain | - |
OR2T12 | - | - | - | - | 3 | Gain | - |
OR2T2 | - | - | - | - | 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 | - |
OR4A15 | p.M31I | Missense | SNP | 0.608 | 2 | - | - |
OR4C12 | p.S74F | Missense | SNP | 0.294 | 2 | - | - |
OR4C15 | p.P337L | Missense | SNP | 0.556 | 2 | - | - |
OR4C16 | p.D266N | Missense | SNP | 0.262 | 2 | - | - |
OR4C6 | p.L84F | Missense | SNP | 0.277 | 2 | - | - |
OR4F15 | - | - | - | - | 3 | Gain | - |
OR4F4 | - | - | - | - | 3 | Gain | - |
OR4F6 | - | - | - | - | 3 | Gain | - |
OR4K17 | p.G11D | Missense | SNP | 0.492 | 2 | - | - |
OR4L1 | p.W149* | Nonsense | SNP | 0.277 | 2 | - | - |
OR4N2 | p.G41E | Missense | SNP | 0.240 | 2 | - | - |
OR51A2 | p.P131L | Missense | SNP | 0.943 | 2 | - | - |
OR51B5 | p.P287S | Missense | SNP | 0.664 | 2 | - | - |
OR51F2 | p.R136C | Missense | SNP | 0.611 | 2 | - | - |
OR51T1 | p.L231F | Missense | SNP | 0.645 | 2 | - | - |
OR52J3 | p.G185S | Missense | SNP | 0.342 | 2 | - | - |
OR52N5 | p.M165I | Missense | SNP | 0.936 | 2 | - | - |
OR56A1 | p.L169F | Missense | SNP | 0.562 | 2 | - | - |
OR5AC2 | - | - | - | - | 3 | Gain | - |
OR5B12 | p.L64F | Missense | SNP | 0.327 | 2 | - | - |
OR5B17 | p.E109K | Missense | SNP | 0.376 | 2 | - | - |
OR5H1 | p.L256F | Missense | SNP | 0.265 | 3 | Gain | - |
OR5H14 | - | - | - | - | 3 | Gain | - |
OR5H15 | - | - | - | - | 3 | Gain | - |
OR5H2 | - | - | - | - | 3 | Gain | - |
OR5H6 | p.S119F | Missense | SNP | 0.470 | 3 | Gain | - |
OR5J2 | p.S217F | Missense | SNP | 0.278 | 2 | - | - |
OR5K1 | - | - | - | - | 3 | Gain | - |
OR5K2 | - | - | - | - | 3 | Gain | - |
OR5K3 | - | - | - | - | 3 | Gain | - |
OR5K4 | - | - | - | - | 3 | Gain | - |
OR6B1 | - | - | - | - | 3 | Gain | - |
OR6C3 | p.G270E | Missense | SNP | 0.337 | 2 | - | - |
OR6F1 | p.S217F | Missense | SNP | 0.739 | 3 | Gain | - |
OR6K2 | - | - | - | - | 3 | Gain | - |
OR6K3 | - | - | - | - | 3 | Gain | - |
OR6K6 | p.C177R | Missense | SNP | 0.183 | 3 | Gain | - |
OR6N1 | - | - | - | - | 3 | Gain | - |
OR6N2 | - | - | - | - | 3 | Gain | - |
OR6P1 | - | - | - | - | 3 | Gain | - |
OR6V1 | - | - | - | - | 3 | Gain | - |
OR6Y1 | - | - | - | - | 3 | Gain | - |
OR7A5 | p.S223F | Missense | SNP | 0.468 | 2 | - | - |
OR8B2 | p.S7F | Missense | SNP | 0.209 | 2 | - | - |
OR8S1 | p.S183F | Missense | SNP | 0.636 | 2 | - | - |
OR9A2 | - | - | - | - | 3 | Gain | - |
OR9A4 | - | - | - | - | 3 | Gain | - |
ORAI2 | - | - | - | - | 3 | Gain | - |
ORC5 | - | - | - | - | 3 | Gain | - |
ORC6 | - | - | - | - | 1 | Loss | - |
OSBP2 | - | - | - | - | 3 | Gain | - |
OSBPL11 | - | - | - | - | 3 | Gain | - |
OSBPL3 | - | - | - | - | 3 | Gain | - |
OSBPL9 | p.G7R | Missense | SNP | 0.692 | 2 | - | - |
OSER1 | p.P250L | Missense | SNP | 0.461 | 2 | - | - |
OSGIN1 | - | - | - | - | 1 | Loss | - |
OSGIN2 | - | - | - | - | 3 | Gain | - |
OSM | - | - | - | - | 3 | Gain | - |
OSMR | - | - | - | - | 3 | Gain | - |
OSR2 | - | - | - | - | 3 | Gain | - |
OSTC | - | - | - | - | 1 | Loss | - |
OSTN | - | - | - | - | 3 | Gain | - |
OTOF | p.G524E | Missense | SNP | 0.290 | 2 | - | - |
OTOGL | p.R1610K | Missense | SNP | 0.550 | 2 | - | - |
OTOL1 | p.M261I | Missense | SNP | 0.250 | 3 | Gain | - |
OTUD1 | - | - | - | - | 1 | Loss | - |
OTUD6B | - | - | - | - | 3 | Gain | - |
OTUD7A | - | - | - | - | 1 | Loss | - |
OTUD7B | p.G190E | Missense | SNP | 0.667 | 2 | - | - |
OXCT1 | - | - | - | - | 3 | Gain | - |
OXER1 | p.G289N | Missense | DNP | 0.478 | 2 | - | - |
OXR1 | - | - | - | - | 3 | Gain | - |
OXSR1 | p.S367L | Missense | SNP | 0.482 | 2 | - | - |
P2RX6 | - | - | - | - | 3 | Gain | - |
P2RY1 | - | - | - | - | 3 | Gain | - |
P2RY11 | - | - | - | - | 3 | Gain | - |
P2RY12 | - | - | - | - | 3 | Gain | - |
P2RY13 | - | - | - | - | 3 | Gain | - |
P2RY14 | - | - | - | - | 3 | Gain | - |
P3H2 | - | - | - | - | 3 | Gain | - |
PABPC1 | - | - | - | - | 3 | Gain | - |
PABPC4L | p.P361L | Missense | SNP | 0.385 | 2 | - | - |
PABPC5 | p.F89S | Missense | SNP | 0.439 | ND | ND | - |
PABPN1L | - | - | - | - | 1 | Loss | - |
PACS2 | p.P550S | Missense | SNP | 0.306 | 2 | - | - |
PACSIN2 | - | - | - | - | 3 | Gain | - |
PADI6 | p.E560K | Missense | SNP | 0.490 | 2 | - | - |
PAG1 | - | - | - | - | 3 | Gain | - |
PAIP1 | - | - | - | - | 3 | Gain | - |
PAK1 | p.D332N | Missense | SNP | 0.312 | 2 | - | - |
PAK2 | - | - | - | - | 3 | Gain | - |
PAK6 | - | - | - | - | 1 | Loss | - |
PALMD | - | - | - | - | 3 | Gain | - |
PANX2 | - | - | - | - | 3 | Gain | - |
PANX3 | p.G22R | Missense | SNP | 0.356 | 2 | - | - |
PAPOLA | p.K689R | Missense | SNP | 0.369 | 2 | - | - |
PAPOLB | - | - | - | - | 3 | Gain | - |
PAPPA2 | p.H1546Y | Missense | SNP | 0.167 | 3 | Gain | - |
PAPSS1 | - | - | - | - | 1 | Loss | - |
PAQR3 | - | - | - | - | 1 | Loss | - |
PAQR5 | - | - | - | - | 3 | Gain | - |
PAQR6 | - | - | - | - | 3 | Gain | - |
PAQR9 | p.Q338* | Nonsense | SNP | 0.570 | 3 | Gain | - |
PARD3 | - | - | - | - | 1 | Loss | - |
PARD6A | - | - | - | - | 1 | Loss | - |
PARG | - | - | - | - | 1 | Loss | - |
PARL | - | - | - | - | 3 | Gain | - |
PARP1 | - | - | - | - | 3 | Gain | - |
PARP12 | p.P153L | Missense | DNP | 0.359 | 3 | Gain | - |
PARP14 | - | - | - | - | 3 | Gain | - |
PARP15 | - | - | - | - | 3 | Gain | - |
PARP16 | - | - | - | - | 3 | Gain | - |
PARP6 | - | - | - | - | 3 | Gain | - |
PARP8 | - | - | - | - | 3 | Gain | - |
PARP9 | - | - | - | - | 3 | Gain | - |
PARVB | - | - | - | - | 3 | Gain | - |
PARVG | - | - | - | - | 3 | Gain | - |
PASK | p.L675V | Missense | SNP | 0.194 | 2 | - | - |
PATJ | - | - | - | - | 3 | Gain | - |
PATL2 | - | - | - | - | 1 | Loss | - |
PATZ1 | - | - | - | - | 3 | Gain | - |
PAX4 | - | - | - | - | 3 | Gain | - |
PAX8 | p.P321L | Missense | SNP | 0.454 | 2 | - | - |
PAXIP1 | - | - | - | - | 3 | Gain | - |
PBX1 | p.S278F | Missense | SNP | 0.179 | 3 | Gain | - |
PBXIP1 | - | - | - | - | 3 | Gain | - |
PCCB | - | - | - | - | 3 | Gain | - |
PCDH1 | p.S290F | Missense | SNP | 0.646 | 2 | - | - |
PCDH15 | p.S1902L | Missense | SNP | 0.917 | 1 | Loss | - |
PCDH17 | p.E1137K | Missense | SNP | 0.509 | 2 | - | - |
PCDH19 | p.S809C | Missense | SNP | 0.949 | ND | ND | - |
PCDHA11 | p.D344N | Missense | SNP | 0.335 | 2 | - | - |
PCDHA2 | p.E301K | Missense | SNP | 0.244 | 2 | - | - |
PCDHA4 | p.R428Q | Missense | SNP | 0.526 | 2 | - | - |
PCDHA8 | p.D378N | Missense | SNP | 0.310 | 2 | - | - |
PCDHA9 | p.S619N p.E902K | Missense Missense | SNP SNP | 0.382 0.294 | 2 | - | - |
PCDHB11 | p.R407K | Missense | SNP | 0.309 | 2 | - | - |
PCDHB13 | p.G526E | Missense | SNP | 0.407 | 2 | - | - |
PCDHB15 | p.D342N | Missense | SNP | 0.295 | 2 | - | - |
PCDHB16 | p.G224E | Missense | SNP | 0.638 | 2 | - | - |
PCDHB3 | p.D51N p.H283Y | Missense Missense | SNP SNP | 0.338 0.647 | 2 | - | - |
PCDHB5 | p.E144K | Missense | SNP | 0.284 | 2 | - | - |
PCDHB9 | p.S130L | Missense | SNP | 0.316 | 2 | - | - |
PCDHGA8 | p.Q647* | Nonsense | SNP | 0.298 | 2 | - | - |
PCDHGB1 | p.E307K | Missense | SNP | 0.559 | 2 | - | - |
PCDHGB4 | p.S137F | Missense | SNP | 0.639 | 2 | - | - |
PCLAF | - | - | - | - | 3 | Gain | - |
PCLO | p.K2611R p.K1289N p.A967V | Missense Missense Missense | SNP SNP SNP | 0.662 0.278 0.388 | 3 | Gain | - |
PCNP | - | - | - | - | 3 | Gain | - |
PCNX1 | p.R2139W | Missense | DNP | 0.309 | 2 | - | - |
PCNX2 | p.K1685E p.A1428V | Missense Missense | SNP SNP | 0.855 0.372 | 3 | Gain | - |
PCOLCE | - | - | - | - | 3 | Gain | - |
PCOLCE2 | - | - | - | - | 3 | Gain | - |
PCP2 | p.E9K | Missense | SNP | 0.430 | 2 | - | - |
PCP4L1 | - | - | - | - | 3 | Gain | - |
PCSK6 | - | - | - | - | 3 | Gain | - |
PCSK9 | p.E211K | Missense | SNP | 0.226 | 2 | - | - |
PCYT1A | p.R326H | Missense | SNP | 0.453 | 3 | Gain | - |
PDAP1 | - | - | - | - | 3 | Gain | - |
PDC | - | - | - | - | 3 | Gain | - |
PDCD10 | - | - | - | - | 3 | Gain | - |
PDCD1LG2 | - | - | - | - | 0 | Del | - |
PDCD7 | - | - | - | - | 3 | Gain | - |
PDE1C | p.E594K | Missense | SNP | 0.188 | 3 | Gain | - |
PDE3A | p.D1017N | Missense | SNP | 0.291 | 2 | - | - |
PDE4A | - | - | - | - | 3 | Gain | - |
PDE4B | - | - | - | - | 3 | Gain | - |
PDE4D | - | - | - | - | 3 | Gain | - |
PDE5A | - | - | - | - | 1 | Loss | - |
PDE7A | - | - | - | - | 3 | Gain | - |
PDE7B | p.R86C | Missense | SNP | 0.305 | 2 | - | - |
PDE8A | - | - | - | - | 3 | Gain | - |
- | - | - | - | 1 | Loss | - | |
PDGFA | - | - | - | - | 3 | Gain | - |
PDGFB | p.M93I | Missense | SNP | 0.308 | 3 | Gain | - |
PDHA2 | - | - | - | - | 1 | Loss | - |
PDIA3 | - | - | - | - | 1 | Loss | - |
PDIA4 | - | - | - | - | 3 | Gain | - |
PDIA5 | - | - | - | - | 3 | Gain | - |
PDK4 | - | - | - | - | 3 | Gain | - |
PDLIM5 | - | - | - | - | 1 | Loss | - |
PDP1 | - | - | - | - | 3 | Gain | - |
PDP2 | - | - | - | - | 1 | Loss | - |
PDPR | - | - | - | - | 1 | Loss | - |
PDSS1 | - | - | - | - | 1 | Loss | - |
PDXP | - | - | - | - | 3 | Gain | - |
PDZD2 | p.D79N p.P913L | Missense Missense | SNP SNP | 0.434 0.512 | 3 | Gain | - |
PDZRN3 | - | - | - | - | 3 | Gain | - |
PEA15 | - | - | - | - | 3 | Gain | - |
PEAK1 | - | - | - | - | 3 | Gain | - |
PEAR1 | - | - | - | - | 3 | Gain | - |
PEG10 | - | - | - | - | 3 | Gain | - |
PEG3 | p.R963C | Missense | SNP | 0.199 | 2 | - | - |
PELI3 | p.P170F | Missense | DNP | 0.327 | 2 | - | - |
PELO | - | - | - | - | 3 | Gain | - |
PELP1 | p.A678V | Missense | SNP | 0.287 | 2 | - | - |
PENK | p.E162K | Missense | SNP | 0.213 | 2 | - | - |
PER3 | p.D1208N | Missense | SNP | 0.740 | 2 | - | - |
PES1 | - | - | - | - | 3 | Gain | - |
PEX1 | - | - | - | - | 4 | Gain | - |
PEX11A | - | - | - | - | 3 | Gain | - |
PEX19 | - | - | - | - | 3 | Gain | - |
PEX2 | - | - | - | - | 3 | Gain | - |
PEX26 | - | - | - | - | 3 | Gain | - |
PEX5L | p.D281N | Missense | SNP | 0.234 | 3 | Gain | - |
PFDN2 | - | - | - | - | 3 | Gain | - |
PFKFB2 | - | - | - | - | 3 | Gain | - |
PFKFB3 | - | - | - | - | 1 | Loss | - |
PFKP | - | - | - | - | 1 | Loss | - |
PFN2 | - | - | - | - | 3 | Gain | - |
PGAM2 | - | - | - | - | 3 | Gain | - |
PGBD2 | - | - | - | - | 3 | Gain | - |
PGBD4 | - | - | - | - | 1 | Loss | - |
PGBD5 | - | - | - | - | 3 | Gain | - |
PGLYRP3 | - | - | - | - | 3 | Gain | - |
PGLYRP4 | - | - | - | - | 3 | Gain | - |
PGM1 | - | - | - | - | 3 | Gain | - |
PGPEP1L | - | - | - | - | 3 | Gain | - |
PHC3 | - | - | - | - | 3 | Gain | - |
PHETA2 | - | - | - | - | 3 | Gain | - |
PHF14 | - | - | - | - | 3 | Gain | - |
PHF21B | p.Q297* | Nonsense | SNP | 0.250 | 3 | Gain | - |
PHF5A | - | - | - | - | 3 | Gain | - |
PHGR1 | - | - | - | - | 1 | Loss | - |
PHIP | p.P808L p.L590S | Missense Missense | DNP SNP | 0.727 0.626 | 2 | - | - |
PHKB | - | - | - | - | 1 | Loss | - |
PHKG1 | - | - | - | - | 3 | Gain | - |
PHLDA3 | - | - | - | - | 3 | Gain | - |
PHLDB2 | - | - | - | - | 3 | Gain | - |
PHLPP2 | - | - | - | - | 1 | Loss | - |
PHTF2 | - | - | - | - | 3 | Gain | - |
PHYH | - | - | - | - | 1 | Loss | - |
PHYHIPL | - | - | - | - | 1 | Loss | - |
PI15 | - | - | - | - | 3 | Gain | - |
PI4KA | - | - | - | - | 3 | Gain | - |
PIAS1 | - | - | - | - | 3 | Gain | - |
PICK1 | - | - | - | - | 3 | Gain | - |
PIEZO1 | - | - | - | - | 1 | Loss | - |
PIF1 | - | - | - | - | 3 | Gain | - |
PIGB | - | - | - | - | 3 | Gain | - |
PIGC | - | - | - | - | 3 | Gain | - |
PIGK | - | - | - | - | 3 | Gain | - |
PIGL | p.C177G | Missense | SNP | 0.280 | 2 | - | - |
PIGM | - | - | - | - | 3 | Gain | - |
PIGR | - | - | - | - | 3 | Gain | - |
PIGX | - | - | - | - | 3 | Gain | - |
PIGY | - | - | - | - | 1 | Loss | - |
PIGZ | - | - | - | - | 3 | Gain | - |
PIK3C2A | p.P748S | Missense | SNP | 0.327 | 2 | - | - |
PIK3C2B | - | - | - | - | 3 | Gain | - |
PIK3C2G | p.R378* | Nonsense | SNP | 0.642 | 2 | - | - |
PIK3CA | - | - | - | - | 3 | Gain | - |
PIK3CB | - | - | - | - | 3 | Gain | - |
PIK3CG | - | - | - | - | 3 | Gain | - |
PIK3IP1 | - | - | - | - | 3 | Gain | - |
PIK3R4 | - | - | - | - | 3 | Gain | - |
PILRA | - | - | - | - | 3 | Gain | - |
PILRB | - | - | - | - | 3 | Gain | - |
PIM3 | - | - | - | - | 3 | Gain | - |
PINLYP | p.S106F | Missense | SNP | 0.161 | 2 | - | - |
PIP | - | - | - | - | 3 | Gain | - |
PIP4K2A | - | - | - | - | 1 | Loss | - |
PIP4P2 | - | - | - | - | 3 | Gain | - |
PISD | - | - | - | - | 3 | Gain | - |
PITPNB | - | - | - | - | 3 | Gain | - |
PITRM1 | - | - | - | - | 1 | Loss | - |
PITX2 | - | - | - | - | 1 | Loss | - |
PIWIL3 | - | - | - | - | 3 | Gain | - |
PKD1L1 | - | - | - | - | 3 | Gain | - |
PKD1L2 | - | - | - | - | 1 | Loss | - |
PKD1L3 | - | - | - | - | 1 | Loss | - |
PKD2 | - | - | - | - | 1 | Loss | - |
PKDREJ | p.S1334F | Missense | SNP | 0.271 | 3 | Gain | - |
PKHD1L1 | p.Q763* p.S2910L p.V3182I | Nonsense Missense Missense | SNP SNP SNP | 0.425 0.280 0.472 | 3 | Gain | - |
PKIA | - | - | - | - | 3 | Gain | - |
PKLR | - | - | - | - | 3 | Gain | - |
PKM | - | - | - | - | 3 | Gain | - |
PKN2 | - | - | - | - | 3 | Gain | - |
PKP1 | - | - | - | - | 3 | Gain | - |
PKP3 | p.R253Q | Missense | SNP | 0.400 | 2 | - | - |
PLA1A | - | - | - | - | 3 | Gain | - |
PLA2G12A | - | - | - | - | 1 | Loss | - |
PLA2G15 | - | - | - | - | 1 | Loss | - |
PLA2G3 | - | - | - | - | 3 | Gain | - |
PLA2G4A | - | - | - | - | 3 | Gain | - |
PLA2G4B | - | - | - | - | 1 | Loss | - |
PLA2G4D | - | - | - | - | 1 | Loss | - |
PLA2G4E | - | - | - | - | 1 | Loss | - |
PLA2G4F | - | - | - | - | 1 | Loss | - |
PLA2G6 | - | - | - | - | 3 | Gain | - |
PLAA | - | - | - | - | 0 | Del | - |
PLAC8 | - | - | - | - | 1 | Loss | - |
PLBD2 | p.P203S | Missense | SNP | 0.366 | 2 | - | - |
PLCB1 | p.E1130K | Missense | SNP | 0.472 | 2 | - | - |
PLCB2 | - | - | - | - | 1 | Loss | - |
PLCB4 | p.G876E | Missense | SNP | 0.396 | 2 | - | - |
PLCG2 | - | - | - | - | 1 | Loss | - |
PLCH1 | - | - | - | - | 3 | Gain | - |
PLCXD2 | - | - | - | - | 3 | Gain | - |
PLCXD3 | - | - | - | - | 3 | Gain | - |
PLCZ1 | p.E538K p.G302E p.S167L p.S81F p.G17E | Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP | 0.294 0.756 0.286 0.664 0.282 | 2 | - | - |
PLD1 | - | - | - | - | 3 | Gain | - |
PLD5 | - | - | - | - | 3 | Gain | - |
PLEKHA6 | - | - | - | - | 3 | Gain | - |
PLEKHA8 | - | - | - | - | 3 | Gain | - |
PLEKHD1 | p.W139* p.L250H | Nonsense Missense | SNP SNP | 0.362 0.312 | 2 | - | - |
PLEKHF2 | - | - | - | - | 3 | Gain | - |
PLEKHG2 | p.P447L | Missense | SNP | 0.233 | 2 | - | - |
PLEKHG4 | - | - | - | - | 1 | Loss | - |
PLEKHG7 | p.E29K | Missense | SNP | 0.268 | 2 | - | - |
PLEKHH2 | p.R16Q | Missense | SNP | 0.267 | 2 | - | - |
PLEKHO2 | - | - | - | - | 3 | Gain | - |
PLG | p.S632F | Missense | SNP | 0.698 | 2 | - | - |
PLGRKT | - | - | - | - | 0 | Del | - |
PLIN1 | - | - | - | - | 3 | Gain | - |
PLIN2 | - | - | - | - | 0 | Del | - |
PLK2 | - | - | - | - | 3 | Gain | - |
PLLP | - | - | - | - | 1 | Loss | - |
PLOD2 | - | - | - | - | 3 | Gain | - |
PLOD3 | - | - | - | - | 3 | Gain | - |
PLPP1 | - | - | - | - | 3 | Gain | - |
PLPP6 | - | - | - | - | 0 | Del | - |
PLPPR2 | - | - | - | - | 3 | Gain | - |
PLPPR4 | - | - | - | - | 3 | Gain | - |
PLPPR5 | - | - | - | - | 3 | Gain | - |
PLRG1 | - | - | - | - | 1 | Loss | - |
PLS1 | - | - | - | - | 3 | Gain | - |
PLSCR1 | - | - | - | - | 3 | Gain | - |
PLSCR2 | - | - | - | - | 3 | Gain | - |
PLSCR4 | - | - | - | - | 3 | Gain | - |
PLSCR5 | - | - | - | - | 3 | Gain | - |
PLXDC2 | - | - | - | - | 1 | Loss | - |
PLXNA1 | - | - | - | - | 3 | Gain | - |
PLXNA2 | - | - | - | - | 3 | Gain | - |
PLXNA4 | - | - | - | - | 3 | Gain | - |
PLXNB2 | - | - | - | - | 3 | Gain | - |
PLXNB3 | p.E1321K | Missense | SNP | 0.977 | ND | ND | - |
PLXND1 | - | - | - | - | 3 | Gain | - |
PM20D1 | - | - | - | - | 3 | Gain | - |
PMF1 | - | - | - | - | 3 | Gain | - |
PMF1-BGLAP | - | - | - | - | 3 | Gain | - |
PMFBP1 | - | - | - | - | 1 | Loss | - |
PML | p.V657M | Missense | DNP | 0.340 | 3 | Gain | - |
PMM1 | - | - | - | - | 3 | Gain | - |
PMP2 | - | - | - | - | 3 | Gain | - |
PMPCB | - | - | - | - | 3 | Gain | - |
PMS2 | - | - | - | - | 3 | Gain | - |
PMVK | - | - | - | - | 3 | Gain | - |
PNLIP | p.P225H | Missense | SNP | 0.308 | 2 | - | - |
PNMAL2 | p.E81K | Missense | SNP | 0.203 | ND | ND | - |
PNPLA2 | p.P497L | Missense | SNP | 0.587 | 2 | - | - |
PNPLA3 | - | - | - | - | 3 | Gain | - |
PNPLA5 | - | - | - | - | 3 | Gain | - |
PNPLA8 | - | - | - | - | 3 | Gain | - |
PODXL | - | - | - | - | 3 | Gain | - |
PODXL2 | - | - | - | - | 3 | Gain | - |
POFUT1 | p.S357F | Missense | SNP | 0.237 | 2 | - | - |
POGK | - | - | - | - | 3 | Gain | - |
POGLUT1 | - | - | - | - | 3 | Gain | - |
POLD2 | - | - | - | - | 3 | Gain | - |
POLDIP3 | - | - | - | - | 3 | Gain | - |
POLG | - | - | - | - | 3 | Gain | - |
POLM | - | - | - | - | 3 | Gain | - |
POLN | p.S771F p.P279L | Missense Missense | DNP SNP | 0.369 0.539 | 2 | - | - |
POLQ | - | - | - | - | 3 | Gain | - |
POLR1E | p.R272C | Missense | DNP | 0.933 | 2 | - | - |
POLR2A | p.G424S | Missense | SNP | 0.275 | 2 | - | - |
POLR2C | - | - | - | - | 1 | Loss | - |
POLR2F | - | - | - | - | 3 | Gain | - |
POLR2H | - | - | - | - | 3 | Gain | - |
POLR2J | - | - | - | - | 3 | Gain | - |
POLR2J2 | - | - | - | - | 3 | Gain | - |
POLR2J3 | - | - | - | - | 3 | Gain | - |
POLR2K | p.R51K | Missense | SNP | 0.403 | 3 | Gain | - |
POLR2M | - | - | - | - | 3 | Gain | - |
POLR3E | p.S93F | Missense | SNP | 0.219 | 2 | - | - |
POLR3H | - | - | - | - | 3 | Gain | - |
POM121 | - | - | - | - | 3 | Gain | - |
POM121C | - | - | - | - | 3 | Gain | - |
POM121L12 | - | - | - | - | 3 | Gain | - |
POM121L2 | p.G682R | Missense | SNP | 0.286 | 2 | - | - |
POMZP3 | - | - | - | - | 3 | Gain | - |
PON1 | - | - | - | - | 3 | Gain | - |
PON2 | - | - | - | - | 3 | Gain | - |
PON3 | - | - | - | - | 3 | Gain | - |
POP1 | - | - | - | - | 3 | Gain | - |
POP7 | - | - | - | - | 3 | Gain | - |
POPDC2 | - | - | - | - | 3 | Gain | - |
POR | - | - | - | - | 3 | Gain | - |
POT1 | - | - | - | - | 3 | Gain | - |
POU1F1 | - | - | - | - | 3 | Gain | - |
POU2F1 | - | - | - | - | 3 | Gain | - |
POU6F2 | - | - | - | - | 3 | Gain | - |
PPA2 | - | - | - | - | 1 | Loss | - |
PPAN | - | - | - | - | 3 | Gain | - |
PPAN-P2RY11 | - | - | - | - | 3 | Gain | - |
PPARA | - | - | - | - | 3 | Gain | - |
PPCDC | - | - | - | - | 3 | Gain | - |
PPEF2 | - | - | - | - | 1 | Loss | - |
PPFIA4 | - | - | - | - | 3 | Gain | - |
PPIA | - | - | - | - | 3 | Gain | - |
PPIB | - | - | - | - | 3 | Gain | - |
PPIC | p.E68K | Missense | SNP | 0.625 | 2 | - | - |
PPIL2 | - | - | - | - | 3 | Gain | - |
PPIP5K1 | - | - | - | - | 1 | Loss | - |
PPM1F | - | - | - | - | 3 | Gain | - |
PPM1K | - | - | - | - | 1 | Loss | - |
PPM1L | - | - | - | - | 3 | Gain | - |
PPOX | - | - | - | - | 3 | Gain | - |
PPP1R12B | - | - | - | - | 3 | Gain | - |
PPP1R13L | p.P371L | Missense | SNP | 0.304 | 2 | - | - |
PPP1R14D | - | - | - | - | 1 | Loss | - |
PPP1R15B | - | - | - | - | 3 | Gain | - |
PPP1R17 | - | - | - | - | 3 | Gain | - |
PPP1R2 | - | - | - | - | 3 | Gain | - |
PPP1R35 | - | - | - | - | 3 | Gain | - |
PPP1R3A | - | - | - | - | 3 | Gain | - |
PPP1R42 | - | - | - | - | 3 | Gain | - |
PPP1R9A | - | - | - | - | 3 | Gain | - |
PPP2R3A | - | - | - | - | 3 | Gain | - |
PPP2R5A | - | - | - | - | 3 | Gain | - |
PPP3CA | - | - | - | - | 1 | Loss | - |
PPP4R2 | - | - | - | - | 3 | Gain | - |
PQLC2L | - | - | - | - | 3 | Gain | - |
PRAME | p.P171L | Missense | SNP | 0.301 | 3 | Gain | - |
PRAMEF14 | p.E250K | Missense | SNP | 0.450 | ND | ND | - |
PRC1 | - | - | - | - | 3 | Gain | - |
PRCC | - | - | - | - | 3 | Gain | - |
PRDM14 | p.R430K | Missense | SNP | 0.258 | 3 | Gain | - |
PRDM5 | - | - | - | - | 1 | Loss | - |
PRDM6 | p.S524F | Missense | SNP | 0.632 | 2 | - | - |
PRDM7 | - | - | - | - | 1 | Loss | - |
PRDM8 | - | - | - | - | 1 | Loss | - |
PRDX6 | - | - | - | - | 3 | Gain | - |
PRELP | p.E76K | Missense | SNP | 0.147 | 3 | Gain | - |
PREX2 | p.D1049N | Missense | SNP | 0.481 | 3 | Gain | - |
PRG4 | - | - | - | - | 3 | Gain | - |
PRICKLE2 | - | - | - | - | 3 | Gain | - |
PRKAA1 | - | - | - | - | 3 | Gain | - |
PRKACB | - | - | - | - | 3 | Gain | - |
PRKAG2 | - | - | - | - | 3 | Gain | - |
PRKAR1B | - | - | - | - | 3 | Gain | - |
PRKAR2B | - | - | - | - | 3 | Gain | - |
PRKCB | p.D484N | Missense | SNP | 0.181 | 2 | - | - |
PRKCG | p.G358R | Missense | SNP | 0.203 | 2 | - | - |
PRKCI | - | - | - | - | 3 | Gain | - |
PRKCQ | - | - | - | - | 1 | Loss | - |
PRKCSH | - | - | - | - | 3 | Gain | - |
PRKG1 | - | - | - | - | 1 | Loss | - |
PRKG2 | - | - | - | - | 1 | Loss | - |
PRKRIP1 | - | - | - | - | 3 | Gain | - |
PRMT6 | - | - | - | - | 3 | Gain | - |
PRMT7 | - | - | - | - | 1 | Loss | - |
PRODH | - | - | - | - | 3 | Gain | - |
PROK2 | - | - | - | - | 3 | Gain | - |
PROS1 | - | - | - | - | 3 | Gain | - |
PROSER2 | - | - | - | - | 1 | Loss | - |
PROX1 | - | - | - | - | 3 | Gain | - |
PRPF18 | - | - | - | - | 1 | Loss | - |
PRPF6 | p.L930F | Missense | SNP | 0.498 | 2 | - | - |
PRPS1L1 | - | - | - | - | 3 | Gain | - |
PRR14L | - | - | - | - | 3 | Gain | - |
PRR15 | - | - | - | - | 3 | Gain | - |
PRR23A | p.E81K | Missense | SNP | 0.237 | 3 | Gain | - |
PRR23B | - | - | - | - | 3 | Gain | - |
PRR23C | - | - | - | - | 3 | Gain | - |
PRR26 | - | - | - | - | 1 | Loss | - |
PRR30 | p.P189F | Missense | DNP | 0.463 | 2 | - | - |
PRR5 | - | - | - | - | 3 | Gain | - |
PRR5-ARHGAP8 | - | - | - | - | 3 | Gain | - |
PRR7 | p.P225L | Missense | SNP | 0.720 | 2 | - | - |
PRR9 | - | - | - | - | 3 | Gain | - |
PRRC2C | - | - | - | - | 3 | Gain | - |
PRRT4 | - | - | - | - | 3 | Gain | - |
PRRX1 | - | - | - | - | 3 | Gain | - |
PRSS1 | - | - | - | - | 3 | Gain | - |
PRSS12 | - | - | - | - | 1 | Loss | - |
PRSS2 | - | - | - | - | 3 | Gain | - |
PRSS3 | - | - | - | - | 0 | Del | - |
PRSS37 | - | - | - | - | 3 | Gain | - |
PRSS38 | - | - | - | - | 3 | Gain | - |
PRSS48 | - | - | - | - | 1 | Loss | - |
PRSS54 | - | - | - | - | 1 | Loss | - |
PRSS58 | p.I208V | Missense | SNP | 0.646 | 3 | Gain | - |
PRTFDC1 | - | - | - | - | 1 | Loss | - |
PRTG | - | - | - | - | 3 | Gain | - |
PRUNE2 | p.G605E | Missense | SNP | 0.933 | 2 | - | - |
PSD4 | p.S99F | Missense | SNP | 0.469 | 2 | - | - |
PSEN2 | - | - | - | - | 3 | Gain | - |
PSG1 | - | - | - | - | 1 | Loss | - |
PSG11 | - | - | - | - | 1 | Loss | - |
PSG2 | - | - | - | - | 1 | Loss | - |
PSG4 | - | - | - | - | 1 | Loss | - |
PSG5 | - | - | - | - | 1 | Loss | - |
PSG6 | - | - | - | - | 1 | Loss | - |
PSG7 | - | - | - | - | 1 | Loss | - |
PSG8 | p.S340L p.G317D | Missense Missense | SNP SNP | 0.500 0.511 | 1 | Loss | - |
PSG9 | p.L52F | Missense | SNP | 0.490 | 1 | Loss | - |
PSIP1 | - | - | - | - | 0 | Del | - |
PSKH1 | - | - | - | - | 1 | Loss | - |
PSKH2 | - | - | - | - | 3 | Gain | - |
PSMA2 | - | - | - | - | 3 | Gain | - |
PSMA4 | - | - | - | - | 3 | Gain | - |
PSMB10 | - | - | - | - | 1 | Loss | - |
PSMB8 | p.R216W | Missense | SNP | 0.683 | 2 | - | - |
PSMC2 | p.R144I | Missense | SNP | 0.315 | 3 | Gain | - |
PSMD2 | - | - | - | - | 3 | Gain | - |
PSMD6 | - | - | - | - | 3 | Gain | - |
PSMD7 | - | - | - | - | 1 | Loss | - |
PSME4 | p.R625C | Missense | SNP | 0.463 | 2 | - | - |
PSMG3 | - | - | - | - | 3 | Gain | - |
PSPC1 | - | - | - | - | 3 | Gain | - |
PSPH | - | - | - | - | 3 | Gain | - |
PSTPIP1 | - | - | - | - | 3 | Gain | - |
PTBP2 | - | - | - | - | 3 | Gain | - |
PTCD1 | - | - | - | - | 3 | Gain | - |
PTCHD3 | - | - | - | - | 1 | Loss | - |
PTDSS1 | - | - | - | - | 3 | Gain | - |
PTER | - | - | - | - | 1 | Loss | - |
PTF1A | - | - | - | - | 1 | Loss | - |
PTGDR | p.R310Q | Missense | SNP | 0.333 | 2 | - | - |
PTGER3 | - | - | - | - | 3 | Gain | - |
PTGER4 | - | - | - | - | 3 | Gain | - |
PTGFR | - | - | - | - | 3 | Gain | - |
PTGS2 | - | - | - | - | 3 | Gain | - |
PTN | - | - | - | - | 3 | Gain | - |
PTPN12 | p.S649F | Missense | SNP | 0.633 | 3 | Gain | - |
PTPN13 | p.S1754L | Missense | SNP | 0.489 | 1 | Loss | - |
PTPN14 | p.V342I | Missense | SNP | 0.185 | 3 | Gain | - |
PTPN20 | - | - | - | - | 1 | Loss | - |
PTPN7 | - | - | - | - | 3 | Gain | - |
PTPN9 | - | - | - | - | 3 | Gain | - |
PTPRB | p.E1444K | Missense | SNP | 0.273 | 2 | - | - |
PTPRC | - | - | - | - | 3 | Gain | - |
PTPRD | p.P846S | Missense | SNP | 0.778 | 0 | Del | - |
PTPRG | p.A283V | Missense | SNP | 0.250 | 3 | Gain | - |
PTPRJ | p.L947R | Missense | SNP | 0.319 | 2 | - | - |
PTPRN | p.D701N | Missense | SNP | 0.516 | 2 | - | - |
PTPRN2 | - | - | - | - | 3 | Gain | - |
PTPRO | p.P873L | Missense | SNP | 0.662 | 2 | - | - |
PTPRT | p.S1368F p.P489S p.W306* | Missense Missense Nonsense | SNP SNP SNP | 0.231 0.245 0.366 | 2 | - | - |
PTPRZ1 | - | - | - | - | 3 | Gain | - |
PTX3 | - | - | - | - | 3 | Gain | - |
PUM3 | - | - | - | - | 0 | Del | - |
PURB | - | - | - | - | 3 | Gain | - |
PUS7 | - | - | - | - | 3 | Gain | - |
PVALB | - | - | - | - | 3 | Gain | - |
PVRIG | - | - | - | - | 3 | Gain | - |
PXDNL | p.E685K p.G248E | Missense Missense | SNP SNP | 0.393 0.234 | 2 | - | - |
PXYLP1 | - | - | - | - | 3 | Gain | - |
PYCR2 | - | - | - | - | 3 | Gain | - |
PYDC2 | - | - | - | - | 3 | Gain | - |
PYGB | p.L145F | Missense | SNP | 0.422 | 2 | - | - |
PYGO1 | - | - | - | - | 3 | Gain | - |
PYGO2 | - | - | - | - | 3 | Gain | - |
PYHIN1 | - | - | - | - | 3 | Gain | - |
PYURF | - | - | - | - | 1 | Loss | - |
QRFPR | - | - | - | - | 1 | Loss | - |
QSOX1 | - | - | - | - | 3 | Gain | - |
QTRT1 | - | - | - | - | 3 | Gain | - |
QTRT2 | - | - | - | - | 3 | Gain | - |
R3HCC1 | p.A419V | Missense | SNP | 0.262 | 2 | - | - |
RAB11A | - | - | - | - | 3 | Gain | - |
RAB13 | - | - | - | - | 3 | Gain | - |
RAB18 | - | - | - | - | 1 | Loss | - |
RAB19 | - | - | - | - | 3 | Gain | - |
RAB25 | - | - | - | - | 3 | Gain | - |
RAB27A | - | - | - | - | 3 | Gain | - |
RAB29 | - | - | - | - | 3 | Gain | - |
RAB2A | - | - | - | - | 3 | Gain | - |
RAB36 | - | - | - | - | 3 | Gain | - |
RAB3C | - | - | - | - | 3 | Gain | - |
RAB3D | - | - | - | - | 3 | Gain | - |
RAB3GAP2 | - | - | - | - | 3 | Gain | - |
RAB43 | - | - | - | - | 3 | Gain | - |
RAB4A | - | - | - | - | 3 | Gain | - |
RAB6A | p.R84C | Missense | SNP | 0.324 | 2 | - | - |
RAB6B | - | - | - | - | 3 | Gain | - |
RAB7A | - | - | - | - | 3 | Gain | - |
RAB8B | - | - | - | - | 3 | Gain | - |
RABGAP1L | - | - | - | - | 4 | Gain | - |
RABGEF1 | - | - | - | - | 3 | Gain | - |
RABGGTB | - | - | - | - | 3 | Gain | - |
RABIF | - | - | - | - | 3 | Gain | - |
RABL3 | - | - | - | - | 3 | Gain | - |
RAC1 | - | - | - | - | 3 | Gain | - |
RAC2 | p.L67F | Missense | SNP | 0.202 | 3 | Gain | - |
RACK1 | - | - | - | - | 1 | Loss | - |
RAD21 | - | - | - | - | 3 | Gain | - |
RAD51 | - | - | - | - | 1 | Loss | - |
RAD54B | - | - | - | - | 3 | Gain | - |
RADIL | - | - | - | - | 3 | Gain | - |
RALA | - | - | - | - | 3 | Gain | - |
RALGPS2 | - | - | - | - | 3 | Gain | - |
RALY | p.X220_splice | Splice_Site | SNP | 0.425 | 2 | - | - |
RALYL | - | - | - | - | 3 | Gain | - |
RAMAC | - | - | - | - | 3 | Gain | - |
RAMP3 | - | - | - | - | 3 | Gain | - |
RANBP1 | - | - | - | - | 3 | Gain | - |
RANBP10 | - | - | - | - | 1 | Loss | - |
RANBP3L | - | - | - | - | 3 | Gain | - |
RANBP6 | - | - | - | - | 0 | Del | - |
RANGAP1 | - | - | - | - | 3 | Gain | - |
RAP1GAP2 | p.G233R | Missense | SNP | 0.229 | 2 | - | - |
RAP1GDS1 | - | - | - | - | 1 | Loss | - |
RAP2B | - | - | - | - | 3 | Gain | - |
RAPGEF2 | p.P1273S | Missense | SNP | 0.145 | 2 | - | - |
RAPGEF3 | p.D19N | Missense | SNP | 0.323 | 2 | - | - |
RAPGEF5 | - | - | - | - | 3 | Gain | - |
RARRES1 | - | - | - | - | 3 | Gain | - |
RARRES2 | - | - | - | - | 3 | Gain | - |
RASA2 | - | - | - | - | 3 | Gain | - |
RASA4 | - | - | - | - | 3 | Gain | - |
RASA4B | - | - | - | - | 3 | Gain | - |
RASAL2 | - | - | - | - | 3 | Gain | - |
RASD2 | - | - | - | - | 3 | Gain | - |
RASGEF1A | - | - | - | - | 1 | Loss | - |
RASGEF1B | - | - | - | - | 1 | Loss | - |
RASGRF1 | - | - | - | - | 3 | Gain | - |
RASGRF2 | p.D551N | Missense | SNP | 0.227 | 2 | - | - |
RASGRP1 | - | - | - | - | 1 | Loss | - |
RASL10A | - | - | - | - | 3 | Gain | - |
RASL12 | - | - | - | - | 3 | Gain | - |
RASSF4 | - | - | - | - | 1 | Loss | - |
RASSF5 | p.G415D | Missense | SNP | 0.392 | 3 | Gain | - |
RASSF6 | p.Y64* | Nonsense | SNP | 0.330 | 2 | - | - |
RAVER1 | - | - | - | - | 3 | Gain | - |
RAVER2 | - | - | - | - | 3 | Gain | - |
RBAK | - | - | - | - | 3 | Gain | - |
RBAK-RBAKDN | - | - | - | - | 3 | Gain | - |
RBBP5 | - | - | - | - | 3 | Gain | - |
RBBP8NL | p.G180R | Missense | SNP | 0.222 | 2 | - | - |
RBFOX1 | p.S209N | Missense | SNP | 0.540 | 2 | - | - |
RBFOX2 | - | - | - | - | 3 | Gain | - |
RBL2 | - | - | - | - | 1 | Loss | - |
RBM12B | - | - | - | - | 3 | Gain | - |
RBM17 | - | - | - | - | 1 | Loss | - |
RBM20 | p.E1020K | Missense | SNP | 0.572 | 2 | - | - |
RBM26 | p.P227S | Missense | SNP | 0.374 | 2 | - | - |
RBM28 | - | - | - | - | 3 | Gain | - |
RBM33 | - | - | - | - | 3 | Gain | - |
RBM34 | - | - | - | - | 3 | Gain | - |
RBM46 | - | - | - | - | 1 | Loss | - |
RBM48 | - | - | - | - | 4 | Gain | - |
RBMXL1 | - | - | - | - | 3 | Gain | - |
RBMXL3 | p.G308R | Missense | SNP | 0.969 | ND | ND | - |
RBP1 | p.D2N | Missense | SNP | 0.350 | 3 | Gain | - |
RBP2 | - | - | - | - | 3 | Gain | - |
RBP3 | - | - | - | - | 1 | Loss | - |
RBPJL | p.P468S | Missense | SNP | 0.225 | 2 | - | - |
RBPMS2 | - | - | - | - | 3 | Gain | - |
RBX1 | - | - | - | - | 3 | Gain | - |
RC3H1 | - | - | - | - | 4 | Gain | - |
RC3H2 | p.P838L | Missense | SNP | 0.631 | 2 | - | - |
RCBTB2 | p.N478S | Missense | SNP | 0.252 | 2 | - | - |
RCC1L | - | - | - | - | 3 | Gain | - |
RCCD1 | - | - | - | - | 3 | Gain | - |
RCHY1 | - | - | - | - | 1 | Loss | - |
RCL1 | - | - | - | - | 0 | Del | - |
RCN2 | - | - | - | - | 3 | Gain | - |
RCOR3 | - | - | - | - | 3 | Gain | - |
RCSD1 | - | - | - | - | 3 | Gain | - |
RD3 | - | - | - | - | 3 | Gain | - |
RDH10 | - | - | - | - | 3 | Gain | - |
RDH5 | p.E219D | Missense | SNP | 0.336 | 2 | - | - |
RDH8 | - | - | - | - | 3 | Gain | - |
REC114 | - | - | - | - | 3 | Gain | - |
REG1B | p.D95N | Missense | SNP | 0.520 | 2 | - | - |
RELN | p.E3142K p.E2973K | Missense Missense | SNP SNP | 0.653 0.669 | 3 | Gain | - |
REM1 | p.R203P | Missense | SNP | 0.475 | 2 | - | - |
REN | - | - | - | - | 3 | Gain | - |
REPIN1 | - | - | - | - | 3 | Gain | - |
RERE | p.S1366F | Missense | SNP | 0.166 | 2 | - | - |
RET | - | - | - | - | 1 | Loss | - |
RETNLB | - | - | - | - | 3 | Gain | - |
RFC2 | - | - | - | - | 3 | Gain | - |
RFC4 | - | - | - | - | 3 | Gain | - |
RFPL1 | - | - | - | - | 3 | Gain | - |
RFPL2 | p.S326F | Missense | SNP | 0.792 | 3 | Gain | - |
RFPL3 | p.G16E | Missense | SNP | 0.410 | 3 | Gain | - |
RFT1 | p.E486G | Missense | SNP | 0.400 | 2 | - | - |
RFWD3 | - | - | - | - | 1 | Loss | - |
RFX3 | - | - | - | - | 0 | Del | - |
RFX7 | - | - | - | - | 3 | Gain | - |
RFXANK | p.P44S | Missense | SNP | 0.232 | 2 | - | - |
RGAG1 | p.R503K | Missense | SNP | 0.946 | ND | ND | - |
RGL1 | - | - | - | - | 3 | Gain | - |
RGL3 | - | - | - | - | 3 | Gain | - |
RGL4 | - | - | - | - | 3 | Gain | - |
RGMA | - | - | - | - | 3 | Gain | - |
RGPD1 | - | - | - | - | 0 | Del | - |
RGPD2 | - | - | - | - | 0 | Del | - |
RGS1 | - | - | - | - | 3 | Gain | - |
RGS13 | - | - | - | - | 3 | Gain | - |
RGS16 | - | - | - | - | 3 | Gain | - |
RGS18 | - | - | - | - | 3 | Gain | - |
RGS2 | - | - | - | - | 3 | Gain | - |
RGS21 | - | - | - | - | 3 | Gain | - |
RGS22 | - | - | - | - | 3 | Gain | - |
RGS4 | - | - | - | - | 3 | Gain | - |
RGS5 | - | - | - | - | 3 | Gain | - |
RGS6 | p.R47K | Missense | SNP | 0.352 | 2 | - | - |
RGS7 | - | - | - | - | 3 | Gain | - |
RGS8 | - | - | - | - | 3 | Gain | - |
RGSL1 | - | - | - | - | 3 | Gain | - |
RHAG | p.E161K | Missense | SNP | 0.349 | 2 | - | - |
RHBDD2 | p.S32Y | Missense | SNP | 0.161 | 3 | Gain | - |
RHBDD3 | - | - | - | - | 3 | Gain | - |
RHBG | - | - | - | - | 3 | Gain | - |
RHCG | - | - | - | - | 3 | Gain | - |
RHEB | - | - | - | - | 3 | Gain | - |
RHEX | - | - | - | - | 3 | Gain | - |
RHO | p.G121S | Missense | SNP | 0.430 | 3 | Gain | - |
RHOD | p.W111* | Nonsense | SNP | 0.349 | 2 | - | - |
RHOU | - | - | - | - | 3 | Gain | - |
RHOV | - | - | - | - | 1 | Loss | - |
RIBC2 | - | - | - | - | 3 | Gain | - |
RIC1 | - | - | - | - | 0 | Del | - |
RICTOR | - | - | - | - | 3 | Gain | - |
RIDA | - | - | - | - | 3 | Gain | - |
RILPL2 | p.R206* | Nonsense | SNP | 0.133 | 2 | - | - |
RIMS2 | p.L584I | Missense | SNP | 0.227 | 3 | Gain | - |
RINT1 | - | - | - | - | 3 | Gain | - |
RIOX2 | - | - | - | - | 3 | Gain | - |
RIPK2 | - | - | - | - | 3 | Gain | - |
RIPOR1 | - | - | - | - | 1 | Loss | - |
RIT1 | - | - | - | - | 3 | Gain | - |
RLBP1 | - | - | - | - | 3 | Gain | - |
RLN1 | - | - | - | - | 0 | Del | - |
RLN2 | - | - | - | - | 0 | Del | - |
RMDN1 | - | - | - | - | 3 | Gain | - |
RMDN3 | - | - | - | - | 1 | Loss | - |
RNASEH1 | p.V79D | Missense | SNP | 0.523 | 2 | - | - |
RNASEL | - | - | - | - | 3 | Gain | - |
RNF103 | p.F420L | Missense | SNP | 0.472 | 2 | - | - |
RNF111 | - | - | - | - | 3 | Gain | - |
RNF123 | - | - | - | - | 1 | Loss | - |
RNF13 | - | - | - | - | 3 | Gain | - |
RNF133 | - | - | - | - | 3 | Gain | - |
RNF148 | - | - | - | - | 3 | Gain | - |
RNF166 | - | - | - | - | 1 | Loss | - |
RNF168 | - | - | - | - | 3 | Gain | - |
RNF17 | p.A226T | Missense | SNP | 0.322 | 2 | - | - |
RNF175 | - | - | - | - | 1 | Loss | - |
RNF185 | - | - | - | - | 3 | Gain | - |
RNF187 | - | - | - | - | 3 | Gain | - |
RNF19A | - | - | - | - | 3 | Gain | - |
RNF2 | - | - | - | - | 3 | Gain | - |
RNF215 | - | - | - | - | 3 | Gain | - |
RNF216 | - | - | - | - | 3 | Gain | - |
RNF32 | - | - | - | - | 3 | Gain | - |
RNF38 | p.P340L | Missense | SNP | 0.957 | 2 | - | - |
RNF7 | - | - | - | - | 3 | Gain | - |
RNGTT | p.R330C | Missense | SNP | 0.255 | 2 | - | - |
RNPC3 | - | - | - | - | 3 | Gain | - |
RNPEP | - | - | - | - | 3 | Gain | - |
ROBO1 | - | - | - | - | 3 | Gain | - |
ROBO2 | p.R1151* | Nonsense | SNP | 0.255 | 3 | Gain | - |
ROPN1 | - | - | - | - | 3 | Gain | - |
ROPN1B | - | - | - | - | 3 | Gain | - |
ROR1 | - | - | - | - | 3 | Gain | - |
RORA | - | - | - | - | 3 | Gain | - |
ROS1 | p.G1392R | Missense | SNP | 0.668 | 2 | - | - |
RP11-385D13.1 | p.Q470* | Nonsense | SNP | 0.627 | ND | ND | - |
RP5-862P8.2 | p.E1031K | Missense | SNP | 0.497 | ND | ND | - |
RP9 | - | - | - | - | 3 | Gain | - |
RPA3 | - | - | - | - | 3 | Gain | - |
RPAP1 | - | - | - | - | 1 | Loss | - |
RPAP2 | - | - | - | - | 3 | Gain | - |
RPE65 | - | - | - | - | 3 | Gain | - |
RPF1 | - | - | - | - | 3 | Gain | - |
RPGRIP1L | - | - | - | - | 1 | Loss | - |
RPL13 | - | - | - | - | 1 | Loss | - |
RPL22L1 | - | - | - | - | 3 | Gain | - |
RPL24 | - | - | - | - | 3 | Gain | - |
RPL3 | - | - | - | - | 3 | Gain | - |
RPL30 | - | - | - | - | 3 | Gain | - |
RPL34 | - | - | - | - | 1 | Loss | - |
RPL35A | - | - | - | - | 3 | Gain | - |
RPL37 | - | - | - | - | 3 | Gain | - |
RPL39L | - | - | - | - | 3 | Gain | - |
RPL4 | - | - | - | - | 3 | Gain | - |
RPL5 | - | - | - | - | 3 | Gain | - |
RPL7 | - | - | - | - | 3 | Gain | - |
RPLP1 | - | - | - | - | 3 | Gain | - |
RPN1 | - | - | - | - | 3 | Gain | - |
RPP25 | - | - | - | - | 3 | Gain | - |
RPP38 | - | - | - | - | 1 | Loss | - |
RPS17 | - | - | - | - | 3 | Gain | - |
RPS19BP1 | - | - | - | - | 3 | Gain | - |
RPS27 | - | - | - | - | 3 | Gain | - |
RPS27L | - | - | - | - | 3 | Gain | - |
RPS3A | - | - | - | - | 1 | Loss | - |
RPS6 | - | - | - | - | 0 | Del | - |
RPS6KC1 | - | - | - | - | 3 | Gain | - |
RPTOR | p.L10F | Missense | SNP | 0.130 | 2 | - | - |
RPUSD2 | - | - | - | - | 1 | Loss | - |
RRAD | - | - | - | - | 1 | Loss | - |
RRAGA | - | - | - | - | 0 | Del | - |
RRH | - | - | - | - | 1 | Loss | - |
RRM2B | - | - | - | - | 3 | Gain | - |
RRNAD1 | - | - | - | - | 3 | Gain | - |
RRP15 | - | - | - | - | 3 | Gain | - |
RRP7A | - | - | - | - | 3 | Gain | - |
RRS1 | - | - | - | - | 3 | Gain | - |
RSBN1L | - | - | - | - | 3 | Gain | - |
RSL24D1 | - | - | - | - | 3 | Gain | - |
RSPH10B | - | - | - | - | 3 | Gain | - |
RSPH10B2 | - | - | - | - | 3 | Gain | - |
RSPH14 | - | - | - | - | 3 | Gain | - |
RSPO2 | - | - | - | - | 3 | Gain | - |
RSPRY1 | - | - | - | - | 1 | Loss | - |
RSRC1 | - | - | - | - | 3 | Gain | - |
RSU1 | - | - | - | - | 1 | Loss | - |
RTCA | - | - | - | - | 3 | Gain | - |
RTCB | - | - | - | - | 3 | Gain | - |
RTEL1 | p.R1223I | Missense | SNP | 0.211 | 2 | - | - |
RTF1 | - | - | - | - | 1 | Loss | - |
RTL10 | - | - | - | - | 3 | Gain | - |
RTL6 | - | - | - | - | 3 | Gain | - |
RTN4R | - | - | - | - | 3 | Gain | - |
RTP1 | - | - | - | - | 3 | Gain | - |
RTP2 | - | - | - | - | 3 | Gain | - |
RTP4 | - | - | - | - | 3 | Gain | - |
RUBCN | - | - | - | - | 3 | Gain | - |
RUNDC3B | - | - | - | - | 3 | Gain | - |
RUNX1T1 | p.S596L p.R88Q | Missense Missense | SNP SNP | 0.459 0.187 | 3 | Gain | - |
RUNX2 | p.E226K | Missense | SNP | 0.664 | 2 | - | - |
RUSC1 | - | - | - | - | 3 | Gain | - |
RUSC2 | p.S463F | Missense | SNP | 0.653 | 2 | - | - |
RUVBL1 | - | - | - | - | 3 | Gain | - |
RWDD3 | - | - | - | - | 3 | Gain | - |
RXFP2 | p.G95E | Missense | SNP | 0.294 | 2 | - | - |
RXFP4 | - | - | - | - | 3 | Gain | - |
RXRG | - | - | - | - | 3 | Gain | - |
RYBP | - | - | - | - | 3 | Gain | - |
RYK | - | - | - | - | 3 | Gain | - |
RYR2 | p.D458N p.E3002K | Missense Missense | SNP SNP | 0.221 0.316 | 3 | Gain | - |
RYR3 | - | - | - | - | 1 | Loss | - |
S100A1 | - | - | - | - | 3 | Gain | - |
S100A11 | p.S16V | Missense | DNP | 0.259 | 2 | - | - |
S100A12 | - | - | - | - | 3 | Gain | - |
S100A13 | - | - | - | - | 3 | Gain | - |
S100A14 | - | - | - | - | 3 | Gain | - |
S100A16 | - | - | - | - | 3 | Gain | - |
S100A2 | - | - | - | - | 3 | Gain | - |
S100A3 | - | - | - | - | 3 | Gain | - |
S100A4 | - | - | - | - | 3 | Gain | - |
S100A5 | - | - | - | - | 3 | Gain | - |
S100A6 | - | - | - | - | 3 | Gain | - |
S100A7 | - | - | - | - | 3 | Gain | - |
S100A7A | - | - | - | - | 3 | Gain | - |
S100A7L2 | - | - | - | - | 3 | Gain | - |
S100A8 | - | - | - | - | 3 | Gain | - |
S100A9 | - | - | - | - | 3 | Gain | - |
S1PR1 | - | - | - | - | 3 | Gain | - |
S1PR2 | - | - | - | - | 3 | Gain | - |
S1PR5 | - | - | - | - | 3 | Gain | - |
SACS | p.S3289L | Missense | SNP | 0.295 | 2 | - | - |
SAFB2 | p.R755C | Missense | SNP | 0.413 | 2 | - | - |
SALL1 | - | - | - | - | 1 | Loss | - |
SALL3 | p.P95L p.G651E p.S1117L | Missense Missense Missense | SNP DNP SNP | 0.606 0.295 0.225 | 2 | - | - |
SAMD12 | p.P12L | Missense | SNP | 0.459 | 3 | Gain | - |
SAMD13 | - | - | - | - | 3 | Gain | - |
SAMD4A | p.P631L | Missense | SNP | 0.340 | 2 | - | - |
SAMD7 | - | - | - | - | 3 | Gain | - |
SAMD9 | - | - | - | - | 4 | Gain | - |
SAMD9L | - | - | - | - | 4 | Gain | - |
SAMHD1 | p.X209_splice | Splice_Site | SNP | 0.502 | 2 | - | - |
SAMM50 | - | - | - | - | 3 | Gain | - |
SAP130 | p.P95L | Missense | SNP | 0.305 | 2 | - | - |
SAP18 | - | - | - | - | 3 | Gain | - |
SAP25 | - | - | - | - | 3 | Gain | - |
SASH1 | p.S90F | Missense | SNP | 0.244 | 2 | - | - |
SASS6 | - | - | - | - | 3 | Gain | - |
SATL1 | p.I261V | Missense | SNP | 0.923 | ND | ND | - |
SAXO1 | - | - | - | - | 0 | Del | - |
SAXO2 | - | - | - | - | 3 | Gain | - |
SBDS | - | - | - | - | 3 | Gain | - |
SBSN | p.E508K | Missense | SNP | 0.213 | 2 | - | - |
SBSPON | p.E79K | Missense | SNP | 0.345 | 3 | Gain | - |
SCAMP2 | - | - | - | - | 3 | Gain | - |
SCAMP3 | - | - | - | - | 3 | Gain | - |
SCAMP5 | - | - | - | - | 3 | Gain | - |
SCAPER | - | - | - | - | 3 | Gain | - |
SCARB2 | - | - | - | - | 1 | Loss | - |
SCARF2 | - | - | - | - | 3 | Gain | - |
SCCPDH | - | - | - | - | 3 | Gain | - |
SCD5 | - | - | - | - | 1 | Loss | - |
SCFD1 | p.P587L | Missense | SNP | 0.390 | 2 | - | - |
SCG3 | p.E192A | Missense | SNP | 0.408 | 1 | Loss | - |
SCG5 | - | - | - | - | 1 | Loss | - |
SCHIP1 | - | - | - | - | 3 | Gain | - |
SCIN | - | - | - | - | 3 | Gain | - |
SCN10A | p.E859K | Missense | SNP | 0.221 | 2 | - | - |
SCN11A | p.E418K | Missense | SNP | 0.135 | 2 | - | - |
SCN2A | p.G882E | Missense | SNP | 0.541 | 2 | - | - |
SCN2B | p.T15M | Missense | SNP | 0.720 | 2 | - | - |
SCN4A | p.D511N | Missense | DNP | 0.604 | 2 | - | - |
SCN5A | p.D498N | Missense | SNP | 0.516 | 2 | - | - |
SCNN1B | p.R200K | Missense | SNP | 0.561 | 2 | - | - |
SCRIB | p.G907S p.A516V | Missense Missense | SNP SNP | 0.468 0.482 | 2 | - | - |
SCRN1 | - | - | - | - | 3 | Gain | - |
SCUBE1 | - | - | - | - | 3 | Gain | - |
SCYL3 | - | - | - | - | 3 | Gain | - |
SDAD1 | - | - | - | - | 1 | Loss | - |
SDC2 | - | - | - | - | 3 | Gain | - |
SDCCAG8 | - | - | - | - | 3 | Gain | - |
SDE2 | - | - | - | - | 3 | Gain | - |
SDF2L1 | - | - | - | - | 3 | Gain | - |
SDHAF3 | - | - | - | - | 3 | Gain | - |
SDHC | - | - | - | - | 3 | Gain | - |
SDK1 | p.M194I p.G957E p.R1615K | Missense Missense Missense | SNP SNP SNP | 0.300 0.494 0.156 | 3 | Gain | - |
SDR42E1 | - | - | - | - | 1 | Loss | - |
SDS | p.D137A | Missense | SNP | 0.619 | 2 | - | - |
SEC11A | - | - | - | - | 3 | Gain | - |
SEC14L2 | - | - | - | - | 3 | Gain | - |
SEC14L3 | p.I68S | Missense | SNP | 0.217 | 3 | Gain | - |
SEC14L4 | - | - | - | - | 3 | Gain | - |
SEC14L6 | - | - | - | - | 3 | Gain | - |
SEC16B | p.D969N p.P966L | Missense Missense | SNP SNP | 0.752 0.782 | 3 | Gain | - |
SEC22A | - | - | - | - | 3 | Gain | - |
SEC23B | p.Q145* | Nonsense | SNP | 0.164 | 2 | - | - |
SEC24B | - | - | - | - | 1 | Loss | - |
SEC24D | p.P64S | Missense | SNP | 0.971 | 1 | Loss | - |
SEC31A | - | - | - | - | 1 | Loss | - |
SEC61A1 | - | - | - | - | 3 | Gain | - |
SEC61A2 | - | - | - | - | 1 | Loss | - |
SEC61G | - | - | - | - | 3 | Gain | - |
SEC62 | - | - | - | - | 3 | Gain | - |
SECISBP2L | - | - | - | - | 1 | Loss | - |
SEL1L3 | p.M610I | Missense | SNP | 0.410 | 2 | - | - |
SELE | - | - | - | - | 3 | Gain | - |
SELENOF | - | - | - | - | 3 | Gain | - |
SELENOM | - | - | - | - | 3 | Gain | - |
SELENOO | - | - | - | - | 3 | Gain | - |
SELENOP | - | - | - | - | 3 | Gain | - |
SELENOS | - | - | - | - | 3 | Gain | - |
SELENOT | - | - | - | - | 3 | Gain | - |
SELL | - | - | - | - | 3 | Gain | - |
SELO | p.S222F | Missense | SNP | 0.230 | ND | ND | - |
SELP | - | - | - | - | 3 | Gain | - |
SEM1 | - | - | - | - | 3 | Gain | - |
SEMA3A | - | - | - | - | 3 | Gain | - |
SEMA3C | - | - | - | - | 3 | Gain | - |
SEMA3D | - | - | - | - | 3 | Gain | - |
SEMA3E | - | - | - | - | 3 | Gain | - |
SEMA4A | - | - | - | - | 3 | Gain | - |
SEMA4B | - | - | - | - | 3 | Gain | - |
SEMA5B | p.R458C | Missense | SNP | 0.438 | 3 | Gain | - |
SEMA6D | - | - | - | - | 1 | Loss | - |
SEMA7A | - | - | - | - | 3 | Gain | - |
SEMG1 | p.D416N | Missense | SNP | 0.253 | 2 | - | - |
SEMG2 | p.T236I | Missense | SNP | 0.510 | 2 | - | - |
SENP2 | - | - | - | - | 3 | Gain | - |
SENP5 | - | - | - | - | 3 | Gain | - |
SENP7 | - | - | - | - | 3 | Gain | - |
SENP8 | - | - | - | - | 1 | Loss | - |
SEPHS1 | - | - | - | - | 1 | Loss | - |
SEPT11 | - | - | - | - | 1 | Loss | - |
SEPT14 | - | - | - | - | 3 | Gain | - |
SEPT3 | - | - | - | - | 3 | Gain | - |
SEPT5 | - | - | - | - | 3 | Gain | - |
SEPT5-GP1BB | - | - | - | - | 3 | Gain | - |
SEPT7 | - | - | - | - | 3 | Gain | - |
SERBP1 | - | - | - | - | 3 | Gain | - |
SERF2 | - | - | - | - | 1 | Loss | - |
SERHL2 | - | - | - | - | 3 | Gain | - |
SERINC4 | p.X153_splice | Splice_Site | SNP | 0.444 | 1 | Loss | - |
SERP1 | - | - | - | - | 3 | Gain | - |
SERPINB7 | p.G341E | Missense | SNP | 0.481 | 2 | - | - |
SERPINC1 | - | - | - | - | 4 | Gain | - |
SERPIND1 | - | - | - | - | 3 | Gain | - |
SERPINE1 | - | - | - | - | 3 | Gain | - |
SERPINI1 | - | - | - | - | 3 | Gain | - |
SERPINI2 | - | - | - | - | 3 | Gain | - |
SERTAD4 | - | - | - | - | 3 | Gain | - |
SESN1 | p.P295S | Missense | SNP | 0.289 | 2 | - | - |
SETBP1 | p.P31S | Missense | SNP | 0.488 | 2 | - | - |
SETD1A | p.S1169F | Missense | SNP | 0.265 | 2 | - | - |
SETD6 | - | - | - | - | 1 | Loss | - |
SETD9 | - | - | - | - | 3 | Gain | - |
SEZ6 | p.G19E | Missense | SNP | 0.358 | 2 | - | - |
SEZ6L | p.A605V p.D796N | Missense Missense | SNP SNP | 0.198 0.235 | 3 | Gain | - |
SF3A1 | - | - | - | - | 3 | Gain | - |
SF3B3 | - | - | - | - | 1 | Loss | - |
SFI1 | p.Q402* | Nonsense | SNP | 0.483 | 3 | Gain | - |
SFMBT2 | - | - | - | - | 1 | Loss | - |
SFRP2 | - | - | - | - | 1 | Loss | - |
SFRP4 | - | - | - | - | 3 | Gain | - |
SFT2D2 | - | - | - | - | 3 | Gain | - |
SGCE | - | - | - | - | 3 | Gain | - |
SGF29 | p.N37T | Missense | SNP | 0.362 | 2 | - | - |
SGIP1 | - | - | - | - | 3 | Gain | - |
SGK2 | p.D228N | Missense | SNP | 0.261 | 2 | - | - |
SGK3 | - | - | - | - | 3 | Gain | - |
SGMS1 | - | - | - | - | 1 | Loss | - |
SGMS2 | - | - | - | - | 1 | Loss | - |
SGSM1 | p.S512L | Missense | SNP | 0.196 | 3 | Gain | - |
SGSM3 | - | - | - | - | 3 | Gain | - |
SH2B2 | - | - | - | - | 3 | Gain | - |
SH2D1B | - | - | - | - | 3 | Gain | - |
SH2D2A | - | - | - | - | 3 | Gain | - |
SH2D7 | - | - | - | - | 3 | Gain | - |
SH3BP1 | - | - | - | - | 3 | Gain | - |
SH3BP4 | p.S355F | Missense | SNP | 0.250 | 2 | - | - |
SH3BP5L | - | - | - | - | 3 | Gain | - |
SH3D19 | - | - | - | - | 1 | Loss | - |
SH3GL2 | - | - | - | - | 0 | Del | - |
SH3GL3 | - | - | - | - | 3 | Gain | - |
SH3GLB1 | - | - | - | - | 3 | Gain | - |
SH3RF2 | p.R263C p.T724I | Missense Missense | SNP SNP | 0.319 0.370 | 2 | - | - |
SHANK3 | p.D340N p.S944F | Missense Missense | SNP DNP | 0.505 0.432 | 2 | - | - |
SHC1 | - | - | - | - | 3 | Gain | - |
SHC4 | - | - | - | - | 1 | Loss | - |
SHCBP1 | - | - | - | - | 1 | Loss | - |
SHCBP1L | - | - | - | - | 3 | Gain | - |
SHE | - | - | - | - | 3 | Gain | - |
SHF | - | - | - | - | 1 | Loss | - |
SHH | - | - | - | - | 3 | Gain | - |
SHISA4 | - | - | - | - | 3 | Gain | - |
SHISA5 | p.E70K | Missense | SNP | 0.241 | 2 | - | - |
SHISA8 | - | - | - | - | 3 | Gain | - |
SHISAL1 | - | - | - | - | 3 | Gain | - |
SHOX2 | - | - | - | - | 3 | Gain | - |
SHPK | p.P303S | Missense | SNP | 0.651 | 2 | - | - |
SHQ1 | - | - | - | - | 3 | Gain | - |
SHROOM3 | - | - | - | - | 1 | Loss | - |
SI | p.D1028N p.D833N | Missense Missense | SNP SNP | 0.198 0.249 | 3 | Gain | - |
SIAH1 | - | - | - | - | 1 | Loss | - |
SIAH2 | - | - | - | - | 3 | Gain | - |
SIDT1 | - | - | - | - | 3 | Gain | - |
SIGLEC7 | p.G177E | Missense | SNP | 0.241 | 2 | - | - |
SIK3 | p.S978L | Missense | SNP | 0.657 | 2 | - | - |
SIN3A | - | - | - | - | 3 | Gain | - |
SIPA1L2 | p.Y653S | Missense | SNP | 0.122 | 3 | Gain | - |
SKA3 | - | - | - | - | 3 | Gain | - |
SKAP2 | - | - | - | - | 3 | Gain | - |
SKIDA1 | - | - | - | - | 1 | Loss | - |
SKIL | - | - | - | - | 3 | Gain | - |
SKIV2L | p.K1004I | Missense | DNP | 0.301 | 2 | - | - |
SKOR1 | - | - | - | - | 3 | Gain | - |
SKP2 | - | - | - | - | 3 | Gain | - |
SLAMF1 | - | - | - | - | 3 | Gain | - |
SLAMF6 | - | - | - | - | 3 | Gain | - |
SLAMF7 | - | - | - | - | 3 | Gain | - |
SLAMF8 | p.A14T | Missense | SNP | 0.855 | 3 | Gain | - |
SLAMF9 | - | - | - | - | 3 | Gain | - |
SLC10A5 | - | - | - | - | 3 | Gain | - |
SLC10A6 | - | - | - | - | 1 | Loss | - |
SLC12A1 | - | - | - | - | 1 | Loss | - |
SLC12A3 | - | - | - | - | 1 | Loss | - |
SLC12A4 | - | - | - | - | 1 | Loss | - |
SLC12A6 | - | - | - | - | 1 | Loss | - |
SLC12A8 | p.S232F | Missense | SNP | 0.215 | 3 | Gain | - |
SLC12A9 | - | - | - | - | 3 | Gain | - |
SLC13A1 | - | - | - | - | 3 | Gain | - |
SLC13A4 | - | - | - | - | 3 | Gain | - |
SLC15A2 | p.R492C | Missense | SNP | 0.500 | 3 | Gain | - |
SLC16A14 | p.S302L | Missense | SNP | 0.217 | 2 | - | - |
SLC16A8 | - | - | - | - | 3 | Gain | - |
SLC16A9 | - | - | - | - | 1 | Loss | - |
SLC18A1 | p.P300S | Missense | SNP | 0.528 | 2 | - | - |
SLC18A2 | p.D460N | Missense | SNP | 0.430 | 2 | - | - |
SLC18A3 | - | - | - | - | 1 | Loss | - |
SLC19A2 | - | - | - | - | 3 | Gain | - |
SLC1A1 | - | - | - | - | 0 | Del | - |
SLC1A3 | - | - | - | - | 3 | Gain | - |
SLC1A7 | p.P44L | Missense | SNP | 0.496 | 2 | - | - |
SLC22A25 | p.E458K | Missense | SNP | 0.331 | 2 | - | - |
SLC22A31 | - | - | - | - | 1 | Loss | - |
SLC23A1 | p.E504K | Missense | SNP | 0.643 | 2 | - | - |
SLC24A1 | - | - | - | - | 3 | Gain | - |
SLC24A2 | - | - | - | - | 0 | Del | - |
SLC24A3 | p.D177N | Missense | SNP | 0.293 | 2 | - | - |
SLC24A4 | p.F612Y | Missense | SNP | 0.293 | 2 | - | - |
SLC24A5 | - | - | - | - | 1 | Loss | - |
SLC25A1 | - | - | - | - | 3 | Gain | - |
SLC25A13 | - | - | - | - | 3 | Gain | - |
SLC25A17 | - | - | - | - | 3 | Gain | - |
SLC25A18 | - | - | - | - | 3 | Gain | - |
SLC25A23 | p.L226F | Missense | SNP | 0.489 | 2 | - | - |
SLC25A26 | - | - | - | - | 3 | Gain | - |
SLC25A32 | - | - | - | - | 3 | Gain | - |
SLC25A36 | - | - | - | - | 3 | Gain | - |
SLC25A40 | - | - | - | - | 3 | Gain | - |
SLC25A44 | - | - | - | - | 3 | Gain | - |
SLC26A3 | - | - | - | - | 3 | Gain | - |
SLC26A4 | - | - | - | - | 3 | Gain | - |
SLC26A5 | - | - | - | - | 3 | Gain | - |
SLC26A7 | p.S270L | Missense | SNP | 0.489 | 3 | Gain | - |
SLC26A9 | - | - | - | - | 3 | Gain | - |
SLC27A1 | p.E525K | Missense | SNP | 0.301 | 2 | - | - |
SLC27A2 | - | - | - | - | 1 | Loss | - |
SLC27A3 | - | - | - | - | 3 | Gain | - |
SLC27A6 | p.G378E | Missense | SNP | 0.160 | 2 | - | - |
SLC28A1 | - | - | - | - | 3 | Gain | - |
SLC28A2 | - | - | - | - | 1 | Loss | - |
SLC29A4 | - | - | - | - | 3 | Gain | - |
SLC2A10 | p.T21I | Missense | SNP | 0.434 | 2 | - | - |
SLC2A11 | p.L224F | Missense | DNP | 0.531 | 3 | Gain | - |
SLC2A2 | - | - | - | - | 3 | Gain | - |
SLC30A1 | - | - | - | - | 3 | Gain | - |
SLC30A10 | - | - | - | - | 3 | Gain | - |
SLC30A4 | - | - | - | - | 1 | Loss | - |
SLC30A7 | - | - | - | - | 3 | Gain | - |
SLC30A8 | - | - | - | - | 3 | Gain | - |
SLC33A1 | - | - | - | - | 3 | Gain | - |
SLC35A3 | - | - | - | - | 3 | Gain | - |
SLC35A5 | - | - | - | - | 3 | Gain | - |
SLC35B4 | - | - | - | - | 3 | Gain | - |
SLC35D1 | - | - | - | - | 3 | Gain | - |
SLC35E4 | - | - | - | - | 3 | Gain | - |
SLC35F3 | - | - | - | - | 3 | Gain | - |
SLC35G2 | - | - | - | - | 3 | Gain | - |
SLC37A3 | - | - | - | - | 3 | Gain | - |
SLC38A4 | p.R104K | Missense | SNP | 0.623 | 2 | - | - |
SLC38A7 | - | - | - | - | 1 | Loss | - |
SLC38A8 | - | - | - | - | 1 | Loss | - |
SLC38A9 | - | - | - | - | 3 | Gain | - |
SLC39A1 | - | - | - | - | 3 | Gain | - |
SLC39A12 | - | - | - | - | 1 | Loss | - |
SLC39A8 | - | - | - | - | 1 | Loss | - |
SLC41A1 | - | - | - | - | 3 | Gain | - |
SLC41A3 | - | - | - | - | 3 | Gain | - |
SLC44A2 | - | - | - | - | 3 | Gain | - |
SLC44A3 | p.P169S | Missense | SNP | 0.759 | 3 | Gain | - |
SLC44A5 | - | - | - | - | 3 | Gain | - |
SLC45A3 | - | - | - | - | 3 | Gain | - |
SLC4A2 | - | - | - | - | 3 | Gain | - |
SLC50A1 | - | - | - | - | 3 | Gain | - |
SLC51A | - | - | - | - | 3 | Gain | - |
SLC51B | - | - | - | - | 3 | Gain | - |
SLC52A3 | p.S228F | Missense | SNP | 0.203 | 2 | - | - |
SLC5A1 | - | - | - | - | 3 | Gain | - |
SLC5A4 | - | - | - | - | 3 | Gain | - |
SLC6A2 | - | - | - | - | 1 | Loss | - |
SLC6A3 | p.S7F | Missense | SNP | 0.364 | 2 | - | - |
SLC6A9 | p.L658F | Missense | SNP | 0.481 | 2 | - | - |
SLC7A13 | p.L369I | Missense | SNP | 0.506 | 3 | Gain | - |
SLC7A14 | - | - | - | - | 3 | Gain | - |
SLC7A4 | - | - | - | - | 3 | Gain | - |
SLC7A5 | - | - | - | - | 1 | Loss | - |
SLC7A6 | - | - | - | - | 1 | Loss | - |
SLC7A6OS | - | - | - | - | 1 | Loss | - |
SLC8A3 | p.M316I p.P242S p.E103K | Missense Missense Missense | SNP SNP SNP | 0.350 0.272 0.677 | 2 | - | - |
SLC9A5 | - | - | - | - | 1 | Loss | - |
SLC9A9 | - | - | - | - | 3 | Gain | - |
SLC9B1 | - | - | - | - | 1 | Loss | - |
SLC9B2 | - | - | - | - | 1 | Loss | - |
SLC9C1 | - | - | - | - | 3 | Gain | - |
SLC9C2 | - | - | - | - | 3 | Gain | - |
SLCO1C1 | p.G91V | Missense | SNP | 0.661 | 2 | - | - |
SLCO2A1 | p.D600N | Missense | SNP | 0.233 | 3 | Gain | - |
SLCO2B1 | p.S159F | Missense | SNP | 0.309 | 2 | - | - |
SLCO3A1 | - | - | - | - | 3 | Gain | - |
SLCO4A1 | p.Y515D | Missense | SNP | 0.237 | 2 | - | - |
SLCO5A1 | p.G257E | Missense | SNP | 0.231 | 3 | Gain | - |
SLFN13 | p.T156I | Missense | SNP | 0.312 | 2 | - | - |
SLFN14 | p.G241R | Missense | DNP | 0.596 | 2 | - | - |
SLITRK3 | - | - | - | - | 3 | Gain | - |
SLITRK4 | p.S83L | Missense | SNP | 0.460 | ND | ND | - |
SLTM | - | - | - | - | 3 | Gain | - |
SMAD3 | - | - | - | - | 3 | Gain | - |
SMAD6 | - | - | - | - | 3 | Gain | - |
SMARCA2 | - | - | - | - | 0 | Del | - |
SMARCA4 | - | - | - | - | 3 | Gain | - |
SMARCAD1 | - | - | - | - | 1 | Loss | - |
SMARCB1 | - | - | - | - | 3 | Gain | - |
SMARCD3 | - | - | - | - | 3 | Gain | - |
SMC1B | p.E787K | Missense | SNP | 0.363 | 3 | Gain | - |
SMC4 | - | - | - | - | 3 | Gain | - |
SMCO1 | - | - | - | - | 3 | Gain | - |
SMDT1 | - | - | - | - | 3 | Gain | - |
SMG5 | - | - | - | - | 3 | Gain | - |
SMG7 | p.P565S | Missense | SNP | 0.131 | 3 | Gain | - |
SMIM27 | - | - | - | - | 0 | Del | - |
SMIM30 | - | - | - | - | 3 | Gain | - |
SMKR1 | - | - | - | - | 3 | Gain | - |
SMO | - | - | - | - | 3 | Gain | - |
SMPD3 | - | - | - | - | 1 | Loss | - |
SMTN | - | - | - | - | 3 | Gain | - |
SMU1 | - | - | - | - | 0 | Del | - |
SMURF1 | - | - | - | - | 3 | Gain | - |
SMYD2 | - | - | - | - | 3 | Gain | - |
SMYD3 | - | - | - | - | 3 | Gain | - |
SNAI3 | - | - | - | - | 1 | Loss | - |
SNAP23 | - | - | - | - | 1 | Loss | - |
SNAP29 | - | - | - | - | 3 | Gain | - |
SNAP47 | - | - | - | - | 3 | Gain | - |
SNAPC3 | - | - | - | - | 0 | Del | - |
SNAPC5 | - | - | - | - | 3 | Gain | - |
SNAPIN | - | - | - | - | 3 | Gain | - |
SNCA | - | - | - | - | 1 | Loss | - |
SNCAIP | p.G242E p.D664N | Missense Missense | SNP SNP | 0.289 0.695 | 2 | - | - |
SND1 | - | - | - | - | 3 | Gain | - |
SNHG12 | - | - | - | - | ND | ND | SNHG12--FLOT1 |
SNHG28 | - | - | - | - | 3 | Gain | - |
SNRPA1 | - | - | - | - | 3 | Gain | - |
SNRPD3 | - | - | - | - | 3 | Gain | - |
SNRPE | - | - | - | - | 3 | Gain | - |
SNTB1 | - | - | - | - | 3 | Gain | - |
SNTB2 | - | - | - | - | 1 | Loss | - |
SNTG1 | p.E468K | Missense | SNP | 0.233 | 2 | - | - |
SNTN | - | - | - | - | 3 | Gain | - |
SNU13 | - | - | - | - | 3 | Gain | - |
SNUPN | - | - | - | - | 3 | Gain | - |
SNX1 | - | - | - | - | 3 | Gain | - |
SNX10 | - | - | - | - | 3 | Gain | - |
SNX13 | - | - | - | - | 3 | Gain | - |
SNX16 | - | - | - | - | 3 | Gain | - |
SNX18 | - | - | - | - | 3 | Gain | - |
SNX20 | - | - | - | - | 1 | Loss | - |
SNX22 | - | - | - | - | 3 | Gain | - |
SNX31 | - | - | - | - | 3 | Gain | - |
SNX33 | - | - | - | - | 3 | Gain | - |
SNX4 | - | - | - | - | 3 | Gain | - |
SNX7 | - | - | - | - | 3 | Gain | - |
SNX8 | - | - | - | - | 3 | Gain | - |
SOAT1 | - | - | - | - | 3 | Gain | - |
SORBS3 | p.P572S | Missense | DNP | 0.464 | 2 | - | - |
SORD | - | - | - | - | 1 | Loss | - |
SOSTDC1 | - | - | - | - | 3 | Gain | - |
SOWAHB | p.E597K | Missense | SNP | 0.933 | 1 | Loss | - |
SOX10 | - | - | - | - | 3 | Gain | - |
SOX13 | - | - | - | - | 3 | Gain | - |
SOX14 | - | - | - | - | 3 | Gain | - |
SOX2 | - | - | - | - | 3 | Gain | - |
SP140 | p.E101K p.G599R | Missense Missense | SNP SNP | 0.228 0.227 | 2 | - | - |
SP4 | - | - | - | - | 3 | Gain | - |
SP8 | - | - | - | - | 3 | Gain | - |
SPAG1 | - | - | - | - | 3 | Gain | - |
SPAG16 | p.P488S | Missense | SNP | 0.457 | 2 | - | - |
SPAG6 | - | - | - | - | 1 | Loss | - |
SPAM1 | - | - | - | - | 3 | Gain | - |
SPARCL1 | - | - | - | - | 1 | Loss | - |
SPATA1 | - | - | - | - | 3 | Gain | - |
SPATA13 | p.G1195E | Missense | SNP | 0.361 | 2 | - | - |
SPATA16 | - | - | - | - | 3 | Gain | - |
SPATA17 | - | - | - | - | 3 | Gain | - |
SPATA24 | p.P146S | Missense | SNP | 0.633 | 2 | - | - |
SPATA2L | - | - | - | - | 1 | Loss | - |
SPATA31D3 | - | - | - | - | 0 | Del | - |
SPATA31D4 | - | - | - | - | 0 | Del | - |
SPATA33 | - | - | - | - | 1 | Loss | - |
SPATA45 | - | - | - | - | 3 | Gain | - |
SPATA46 | - | - | - | - | 3 | Gain | - |
SPATA48 | - | - | - | - | 3 | Gain | - |
SPATA5 | - | - | - | - | 1 | Loss | - |
SPATA5L1 | - | - | - | - | 1 | Loss | - |
SPATA6L | - | - | - | - | 0 | Del | - |
SPATA8 | - | - | - | - | 3 | Gain | - |
SPC24 | - | - | - | - | 3 | Gain | - |
SPCS1 | - | - | - | - | 3 | Gain | - |
SPDYC | p.P288S | Missense | SNP | 0.304 | 2 | - | - |
SPDYE3 | - | - | - | - | 3 | Gain | - |
SPECC1L | - | - | - | - | 3 | Gain | - |
SPECC1L-ADORA2A | - | - | - | - | 3 | Gain | - |
SPEF2 | p.L297F | Missense | SNP | 0.449 | 2 | - | - |
SPERT | p.S96F p.E396K | Missense Missense | SNP SNP | 0.364 0.311 | 2 | - | - |
SPESP1 | - | - | - | - | 3 | Gain | - |
SPG11 | - | - | - | - | 1 | Loss | - |
SPG21 | - | - | - | - | 3 | Gain | - |
SPG7 | - | - | - | - | 1 | Loss | - |
SPHAR | - | - | - | - | 3 | Gain | - |
SPHKAP | p.C1122Y | Missense | SNP | 0.525 | 2 | - | - |
SPICE1 | - | - | - | - | 3 | Gain | - |
SPINK4 | - | - | - | - | 0 | Del | - |
SPINT1 | - | - | - | - | 1 | Loss | - |
SPIRE2 | - | - | - | - | 1 | Loss | - |
SPNS2 | p.D362N | Missense | SNP | 0.333 | 2 | - | - |
SPNS3 | p.G275R | Missense | SNP | 0.444 | 2 | - | - |
SPOCD1 | p.P261L | Missense | SNP | 0.196 | 2 | - | - |
SPP1 | - | - | - | - | 1 | Loss | - |
SPPL2A | - | - | - | - | 1 | Loss | - |
SPRED1 | - | - | - | - | 1 | Loss | - |
SPRR4 | p.S2F | Missense | SNP | 0.140 | 2 | - | - |
SPRTN | - | - | - | - | 3 | Gain | - |
SPRY1 | - | - | - | - | 1 | Loss | - |
SPSB2 | p.R220K | Missense | SNP | 0.716 | 2 | - | - |
SPSB4 | - | - | - | - | 3 | Gain | - |
SPTA1 | p.L1745F | Missense | SNP | 0.162 | 3 | Gain | - |
SPTBN4 | p.R151W | Missense | SNP | 0.468 | 2 | - | - |
SPTBN5 | - | - | - | - | 1 | Loss | - |
SPTSSB | - | - | - | - | 3 | Gain | - |
SQOR | - | - | - | - | 1 | Loss | - |
SREBF2 | - | - | - | - | 3 | Gain | - |
SRGAP2 | - | - | - | - | 3 | Gain | - |
SRI | - | - | - | - | 3 | Gain | - |
SRP14 | - | - | - | - | 1 | Loss | - |
SRP9 | - | - | - | - | 3 | Gain | - |
SRPK2 | - | - | - | - | 3 | Gain | - |
SRPRB | - | - | - | - | 3 | Gain | - |
SRRD | - | - | - | - | 3 | Gain | - |
SRRM3 | - | - | - | - | 3 | Gain | - |
SRRT | - | - | - | - | 3 | Gain | - |
SRSF11 | - | - | - | - | 3 | Gain | - |
SSBP1 | - | - | - | - | 3 | Gain | - |
SSC4D | - | - | - | - | 3 | Gain | - |
SSH1 | p.S648F p.N297K | Missense Missense | SNP SNP | 0.370 0.578 | 2 | - | - |
SSMEM1 | - | - | - | - | 3 | Gain | - |
SSPO | p.P1223S p.E1979K | Missense Missense | DNP SNP | 0.408 0.373 | 3 | Gain | - |
SSR2 | - | - | - | - | 3 | Gain | - |
SSR3 | - | - | - | - | 3 | Gain | - |
SST | - | - | - | - | 3 | Gain | - |
SSTR2 | p.M161I | Missense | SNP | 0.340 | 2 | - | - |
SSTR3 | p.G96R | Missense | SNP | 0.432 | 3 | Gain | - |
SSU72P8 | - | - | - | - | 3 | Gain | - |
SSX2IP | - | - | - | - | 3 | Gain | - |
ST13 | - | - | - | - | 3 | Gain | - |
ST20 | - | - | - | - | 3 | Gain | - |
ST20-MTHFS | - | - | - | - | 3 | Gain | - |
ST3GAL2 | - | - | - | - | 1 | Loss | - |
ST3GAL6 | - | - | - | - | 3 | Gain | - |
ST6GAL1 | - | - | - | - | 3 | Gain | - |
ST6GAL2 | p.G161E | Missense | SNP | 0.235 | 2 | - | - |
ST6GALNAC3 | - | - | - | - | 3 | Gain | - |
ST6GALNAC5 | - | - | - | - | 3 | Gain | - |
ST7 | - | - | - | - | 3 | Gain | - |
ST8SIA2 | - | - | - | - | 3 | Gain | - |
ST8SIA6 | - | - | - | - | 1 | Loss | - |
STAB2 | p.R644Q p.V795I | Missense Missense | SNP SNP | 0.381 0.432 | 2 | - | - |
STAG1 | - | - | - | - | 3 | Gain | - |
STAG3 | - | - | - | - | 3 | Gain | - |
STAM | - | - | - | - | 1 | Loss | - |
STARD3NL | - | - | - | - | 3 | Gain | - |
STARD5 | - | - | - | - | 3 | Gain | - |
STARD9 | - | - | - | - | 1 | Loss | - |
STAU2 | - | - | - | - | 3 | Gain | - |
STBD1 | - | - | - | - | 1 | Loss | - |
STEAP1 | - | - | - | - | 3 | Gain | - |
STEAP1B | - | - | - | - | 3 | Gain | - |
STEAP2 | - | - | - | - | 3 | Gain | - |
STEAP4 | - | - | - | - | 3 | Gain | - |
STK17A | - | - | - | - | 3 | Gain | - |
STK3 | - | - | - | - | 3 | Gain | - |
STK31 | - | - | - | - | 3 | Gain | - |
STK4 | p.X435_splice | Splice_Site | DNP | 0.486 | 2 | - | - |
STMN2 | p.E10K | Missense | SNP | 0.203 | 3 | Gain | - |
STMP1 | - | - | - | - | 3 | Gain | - |
STOML1 | - | - | - | - | 3 | Gain | - |
STON1 | p.Q537* | Nonsense | SNP | 0.484 | 2 | - | - |
STON2 | p.V655A | Missense | SNP | 0.265 | 2 | - | - |
STPG2 | - | - | - | - | 1 | Loss | - |
STRA6 | p.L101F | Missense | SNP | 0.425 | 3 | Gain | - |
STRA8 | - | - | - | - | 3 | Gain | - |
STRC | - | - | - | - | 0 | Del | - |
STRIP2 | - | - | - | - | 3 | Gain | - |
STUM | - | - | - | - | 3 | Gain | - |
STX19 | - | - | - | - | 3 | Gain | - |
STX1A | - | - | - | - | 3 | Gain | - |
STX6 | - | - | - | - | 3 | Gain | - |
STXBP2 | p.P513L | Missense | SNP | 0.471 | 2 | - | - |
STXBP5L | p.S725F | Missense | SNP | 0.176 | 3 | Gain | - |
STYK1 | p.D217N | Missense | SNP | 0.564 | 2 | - | - |
STYXL1 | - | - | - | - | 3 | Gain | - |
SUCLA2 | p.S186L | Missense | SNP | 0.306 | 2 | - | - |
SUCLG2 | - | - | - | - | 3 | Gain | - |
SUCNR1 | - | - | - | - | 3 | Gain | - |
SUCO | - | - | - | - | 3 | Gain | - |
SUGCT | - | - | - | - | 3 | Gain | - |
SULF1 | p.S242F p.R595G | Missense Missense | SNP SNP | 0.246 0.446 | 3 | Gain | - |
SULT1B1 | - | - | - | - | 1 | Loss | - |
SULT1C2 | p.S102F | Missense | SNP | 0.233 | 2 | - | - |
SULT4A1 | - | - | - | - | 3 | Gain | - |
SUMF2 | - | - | - | - | 3 | Gain | - |
SUN1 | - | - | - | - | 3 | Gain | - |
SUN2 | - | - | - | - | 3 | Gain | - |
SUN3 | - | - | - | - | 3 | Gain | - |
SUPT6H | p.R265C | Missense | DNP | 0.248 | 2 | - | - |
SUSD2 | - | - | - | - | 3 | Gain | - |
SUSD4 | - | - | - | - | 3 | Gain | - |
SUV39H2 | - | - | - | - | 1 | Loss | - |
SV2B | - | - | - | - | 3 | Gain | - |
SVEP1 | p.S2835T | Missense | SNP | 0.990 | 2 | - | - |
SVIL | - | - | - | - | 1 | Loss | - |
SVOPL | - | - | - | - | 3 | Gain | - |
SWSAP1 | - | - | - | - | 3 | Gain | - |
SWT1 | p.S480R | Missense | SNP | 0.164 | 3 | Gain | - |
SYBU | - | - | - | - | 3 | Gain | - |
SYCE1L | - | - | - | - | 1 | Loss | - |
SYDE2 | - | - | - | - | 3 | Gain | - |
SYN3 | - | - | - | - | 3 | Gain | - |
SYNDIG1L | p.E65K | Missense | SNP | 0.223 | 2 | - | - |
SYNE1 | p.R6817Q p.H4819Y p.W2530* | Missense Missense Nonsense | SNP SNP SNP | 0.620 0.319 0.224 | 2 | - | - |
SYNGR1 | - | - | - | - | 3 | Gain | - |
SYNM | - | - | - | - | 3 | Gain | - |
SYNPO2 | - | - | - | - | 1 | Loss | - |
SYNPR | - | - | - | - | 3 | Gain | - |
SYPL1 | - | - | - | - | 3 | Gain | - |
SYT11 | - | - | - | - | 3 | Gain | - |
SYT14 | - | - | - | - | 3 | Gain | - |
SYT15 | - | - | - | - | 1 | Loss | - |
SYT2 | - | - | - | - | 3 | Gain | - |
TAB1 | - | - | - | - | 3 | Gain | - |
TAC1 | - | - | - | - | 3 | Gain | - |
TACR3 | p.K332N | Missense | SNP | 0.964 | 1 | Loss | - |
TACSTD2 | - | - | - | - | 3 | Gain | - |
TADA1 | - | - | - | - | 3 | Gain | - |
TAF1A | - | - | - | - | 3 | Gain | - |
TAF1C | - | - | - | - | 1 | Loss | - |
TAF1L | - | - | - | - | 0 | Del | - |
TAF2 | - | - | - | - | 3 | Gain | - |
TAF3 | - | - | - | - | 1 | Loss | - |
TAF5L | - | - | - | - | 3 | Gain | - |
TAF6 | - | - | - | - | 3 | Gain | - |
TAGLN2 | - | - | - | - | 3 | Gain | - |
TAGLN3 | - | - | - | - | 3 | Gain | - |
TANC2 | p.L1085F | Missense | SNP | 0.271 | 2 | - | - |
TANGO2 | - | - | - | - | 3 | Gain | - |
TANGO6 | - | - | - | - | 1 | Loss | - |
TARBP1 | - | - | - | - | 3 | Gain | - |
TARSL2 | - | - | - | - | 3 | Gain | - |
TAS2R16 | p.Q5* | Nonsense | SNP | 0.600 | 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 | - |
TAT | - | - | - | - | 1 | Loss | - |
TATDN3 | - | - | - | - | 3 | Gain | - |
TAX1BP1 | - | - | - | - | 3 | Gain | - |
TBC1D10A | - | - | - | - | 3 | Gain | - |
TBC1D21 | - | - | - | - | 3 | Gain | - |
TBC1D22A | - | - | - | - | 3 | Gain | - |
TBC1D23 | - | - | - | - | 3 | Gain | - |
TBC1D2B | - | - | - | - | 3 | Gain | - |
TBC1D31 | - | - | - | - | 3 | Gain | - |
TBC1D9 | p.P1252L | Missense | SNP | 0.179 | 2 | - | - |
TBCCD1 | - | - | - | - | 3 | Gain | - |
TBCE | - | - | - | - | 3 | Gain | - |
TBCK | - | - | - | - | 1 | Loss | - |
TBL1XR1 | - | - | - | - | 3 | Gain | - |
TBL2 | - | - | - | - | 3 | Gain | - |
TBRG4 | - | - | - | - | 3 | Gain | - |
TBX1 | - | - | - | - | 3 | Gain | - |
TBX10 | p.N79Y | Missense | SNP | 0.335 | 2 | - | - |
TBX19 | - | - | - | - | 3 | Gain | - |
TBX20 | - | - | - | - | 3 | Gain | - |
TBXAS1 | - | - | - | - | 3 | Gain | - |
TCAF1 | - | - | - | - | 3 | Gain | - |
TCAF2 | - | - | - | - | 3 | Gain | - |
TCEAL2 | p.R110K | Missense | SNP | 0.381 | ND | ND | - |
TCF12 | - | - | - | - | 3 | Gain | - |
TCF20 | - | - | - | - | 3 | Gain | - |
TCF24 | - | - | - | - | 3 | Gain | - |
TCF25 | p.D301N | Missense | DNP | 0.941 | 1 | Loss | - |
TCHHL1 | p.E556K | Missense | SNP | 0.464 | 2 | - | - |
TCN2 | - | - | - | - | 3 | Gain | - |
TCTEX1D1 | - | - | - | - | 3 | Gain | - |
TCTEX1D2 | - | - | - | - | 3 | Gain | - |
TDRD10 | - | - | - | - | 3 | Gain | - |
TDRD12 | p.Q3* | Nonsense | SNP | 0.241 | 2 | - | - |
TDRD5 | p.W541G | Missense | SNP | 0.832 | 3 | Gain | - |
TEAD2 | p.L164F | Missense | SNP | 0.414 | 2 | - | - |
TECPR1 | - | - | - | - | 5 | Amp | - |
TECTA | p.P1764S | Missense | SNP | 0.312 | 2 | - | - |
TEDDM1 | - | - | - | - | 3 | Gain | - |
TEF | - | - | - | - | 3 | Gain | - |
TEK | - | - | - | - | 0 | Del | - |
TENM1 | p.G2679E | Missense | SNP | 0.416 | ND | ND | - |
TENM4 | p.R1717Q | Missense | SNP | 0.271 | 2 | - | - |
TENT4B | - | - | - | - | 1 | Loss | - |
TEPP | - | - | - | - | 1 | Loss | - |
TERB1 | - | - | - | - | 1 | Loss | - |
TERB2 | - | - | - | - | 1 | Loss | - |
TERF1 | - | - | - | - | 3 | Gain | - |
TERF2 | - | - | - | - | 1 | Loss | - |
TERF2IP | - | - | - | - | 1 | Loss | - |
TES | - | - | - | - | 3 | Gain | - |
TET2 | - | - | - | - | 1 | Loss | - |
TET3 | p.S985F | Missense | SNP | 0.519 | 2 | - | - |
TEX13A | p.D253N | Missense | SNP | 0.878 | ND | ND | - |
TEX26 | p.L13F | Missense | SNP | 0.298 | 2 | - | - |
TEX33 | p.E104K | Missense | SNP | 0.453 | 3 | Gain | - |
TEX35 | - | - | - | - | 3 | Gain | - |
TEX47 | - | - | - | - | 3 | Gain | - |
TEX50 | - | - | - | - | 4 | Gain | - |
TEX9 | - | - | - | - | 3 | Gain | - |
TF | - | - | - | - | 3 | Gain | - |
TFAM | - | - | - | - | 1 | Loss | - |
TFB2M | - | - | - | - | 3 | Gain | - |
TFCP2 | p.R98Q | Missense | SNP | 0.263 | 2 | - | - |
TFDP2 | - | - | - | - | 3 | Gain | - |
TFEC | - | - | - | - | 3 | Gain | - |
TFG | - | - | - | - | 3 | Gain | - |
TFIP11 | - | - | - | - | 3 | Gain | - |
TFPI2 | - | - | - | - | 4 | Gain | - |
TFR2 | p.E36K | Missense | SNP | 0.479 | 3 | Gain | - |
TFRC | - | - | - | - | 3 | Gain | - |
TGFB2 | - | - | - | - | 3 | Gain | - |
TGFBR3 | - | - | - | - | 3 | Gain | - |
TGM3 | p.Y313* | Nonsense | SNP | 0.427 | 2 | - | - |
TGM5 | - | - | - | - | 1 | Loss | - |
TGM7 | - | - | - | - | 1 | Loss | - |
THAP10 | - | - | - | - | 3 | Gain | - |
THAP11 | - | - | - | - | 1 | Loss | - |
THAP5 | - | - | - | - | 3 | Gain | - |
THAP6 | - | - | - | - | 1 | Loss | - |
THAP7 | - | - | - | - | 3 | Gain | - |
THAP9 | - | - | - | - | 1 | Loss | - |
THBS1 | - | - | - | - | 1 | Loss | - |
THBS3 | - | - | - | - | 3 | Gain | - |
THBS4 | p.D535N | Missense | SNP | 0.614 | 2 | - | - |
THEM5 | p.E97K | Missense | SNP | 0.698 | 2 | - | - |
THNSL1 | - | - | - | - | 1 | Loss | - |
THOC2 | p.S827L | Missense | SNP | 0.949 | ND | ND | - |
THOC5 | - | - | - | - | 3 | Gain | - |
THOC7 | - | - | - | - | 3 | Gain | - |
THPO | - | - | - | - | 3 | Gain | - |
THSD4 | - | - | - | - | 3 | Gain | - |
THSD7A | - | - | - | - | 3 | Gain | - |
THSD7B | p.R544Q | Missense | SNP | 0.425 | 2 | - | - |
THTPA | - | - | - | - | 1 | Loss | - |
TICRR | p.R913* | Nonsense | SNP | 0.243 | 3 | Gain | - |
TIFA | - | - | - | - | 1 | Loss | - |
TIGD2 | - | - | - | - | 1 | Loss | - |
TIGD3 | p.E456K | Missense | SNP | 0.619 | 2 | - | - |
TIGD4 | - | - | - | - | 1 | Loss | - |
TIGIT | - | - | - | - | 3 | Gain | - |
TIMD4 | p.E372K | Missense | SNP | 0.636 | 2 | - | - |
TIMM17A | - | - | - | - | 3 | Gain | - |
TIMM23 | - | - | - | - | 1 | Loss | - |
TIMM23B | - | - | - | - | 1 | Loss | - |
TIMM29 | - | - | - | - | 3 | Gain | - |
TIMM44 | p.Q243* | Nonsense | SNP | 0.269 | 2 | - | - |
TIMMDC1 | - | - | - | - | 3 | Gain | - |
TIMP3 | - | - | - | - | 3 | Gain | - |
TINAG | p.A266T | Missense | SNP | 0.668 | 2 | - | - |
TIPARP | - | - | - | - | 3 | Gain | - |
TIPIN | - | - | - | - | 3 | Gain | - |
TIPRL | - | - | - | - | 3 | Gain | - |
TJP1 | p.R1342W | Missense | SNP | 0.263 | 2 | - | - |
TK2 | - | - | - | - | 1 | Loss | - |
TLDC1 | - | - | - | - | 1 | Loss | - |
TLE3 | - | - | - | - | 3 | Gain | - |
TLE7 | - | - | - | - | 1 | Loss | - |
TLK2 | p.Q204* | Nonsense | SNP | 0.389 | 2 | - | - |
TLN2 | - | - | - | - | 3 | Gain | - |
TLNRD1 | - | - | - | - | 3 | Gain | - |
TLR2 | - | - | - | - | 1 | Loss | - |
TLR4 | p.P539S | Missense | SNP | 0.943 | 2 | - | - |
TLR5 | - | - | - | - | 3 | Gain | - |
TLR8 | p.L932F | Missense | SNP | 0.921 | ND | ND | - |
TM2D1 | - | - | - | - | 3 | Gain | - |
TM2D3 | - | - | - | - | 3 | Gain | - |
TM4SF1 | - | - | - | - | 3 | Gain | - |
TM4SF18 | - | - | - | - | 3 | Gain | - |
TM4SF19 | - | - | - | - | 3 | Gain | - |
TM4SF19-TCTEX1D2 | - | - | - | - | 3 | Gain | - |
TM4SF4 | - | - | - | - | 3 | Gain | - |
TM6SF1 | - | - | - | - | 3 | Gain | - |
TM7SF3 | p.X31_splice | Splice_Site | SNP | 0.343 | 2 | - | - |
TMBIM1 | p.T237F | Missense | DNP | 0.388 | 2 | - | - |
TMC2 | p.L782F | Missense | SNP | 0.343 | 2 | - | - |
TMC3 | p.G405E | Missense | SNP | 0.392 | 3 | Gain | - |
TMCC1 | - | - | - | - | 3 | Gain | - |
TMCC2 | - | - | - | - | 3 | Gain | - |
TMCO1 | - | - | - | - | 3 | Gain | - |
TMCO5A | - | - | - | - | 1 | Loss | - |
TMED1 | - | - | - | - | 3 | Gain | - |
TMED3 | - | - | - | - | 3 | Gain | - |
TMED4 | - | - | - | - | 3 | Gain | - |
TMED5 | - | - | - | - | 3 | Gain | - |
TMED6 | - | - | - | - | 1 | Loss | - |
TMEM106B | - | - | - | - | 3 | Gain | - |
TMEM108 | - | - | - | - | 3 | Gain | - |
TMEM120A | - | - | - | - | 3 | Gain | - |
TMEM121B | - | - | - | - | 3 | Gain | - |
TMEM130 | p.R336K | Missense | SNP | 0.432 | 3 | Gain | - |
TMEM131L | - | - | - | - | 1 | Loss | - |
TMEM135 | p.Q269* | Nonsense | SNP | 0.618 | 2 | - | - |
TMEM136 | p.L139F | Missense | SNP | 0.364 | 2 | - | - |
TMEM139 | - | - | - | - | 3 | Gain | - |
TMEM140 | - | - | - | - | 3 | Gain | - |
TMEM150C | - | - | - | - | 1 | Loss | - |
TMEM154 | - | - | - | - | 1 | Loss | - |
TMEM155 | - | - | - | - | 1 | Loss | - |
TMEM158 | p.G21R | Missense | SNP | 0.172 | 2 | - | - |
TMEM168 | - | - | - | - | 3 | Gain | - |
TMEM170A | - | - | - | - | 1 | Loss | - |
TMEM174 | p.D110N | Missense | SNP | 0.329 | 2 | - | - |
TMEM176A | - | - | - | - | 3 | Gain | - |
TMEM176B | - | - | - | - | 3 | Gain | - |
TMEM178B | - | - | - | - | 3 | Gain | - |
TMEM183A | - | - | - | - | 3 | Gain | - |
TMEM184A | - | - | - | - | 3 | Gain | - |
TMEM184B | - | - | - | - | 3 | Gain | - |
TMEM191B | - | - | - | - | 3 | Gain | - |
TMEM191C | - | - | - | - | 3 | Gain | - |
TMEM196 | - | - | - | - | 3 | Gain | - |
TMEM202 | - | - | - | - | 3 | Gain | - |
TMEM203 | p.S68F | Missense | SNP | 0.956 | 2 | - | - |
TMEM205 | - | - | - | - | 3 | Gain | - |
TMEM206 | - | - | - | - | 3 | Gain | - |
TMEM207 | - | - | - | - | 3 | Gain | - |
TMEM208 | - | - | - | - | 1 | Loss | - |
TMEM209 | - | - | - | - | 3 | Gain | - |
TMEM211 | - | - | - | - | 3 | Gain | - |
TMEM212 | - | - | - | - | 3 | Gain | - |
TMEM213 | - | - | - | - | 3 | Gain | - |
TMEM215 | - | - | - | - | 0 | Del | - |
TMEM225B | - | - | - | - | 3 | Gain | - |
TMEM229A | - | - | - | - | 3 | Gain | - |
TMEM231 | - | - | - | - | 1 | Loss | - |
TMEM236 | - | - | - | - | 1 | Loss | - |
TMEM243 | - | - | - | - | 3 | Gain | - |
TMEM248 | - | - | - | - | 3 | Gain | - |
TMEM266 | - | - | - | - | 3 | Gain | - |
TMEM267 | - | - | - | - | 3 | Gain | - |
TMEM270 | - | - | - | - | 3 | Gain | - |
TMEM273 | - | - | - | - | 1 | Loss | - |
TMEM39A | - | - | - | - | 3 | Gain | - |
TMEM40 | p.S64F | Missense | SNP | 0.237 | 2 | - | - |
TMEM41A | - | - | - | - | 3 | Gain | - |
TMEM44 | - | - | - | - | 3 | Gain | - |
TMEM45A | - | - | - | - | 3 | Gain | - |
TMEM56 | - | - | - | - | 3 | Gain | - |
TMEM56-RWDD3 | - | - | - | - | 3 | Gain | - |
TMEM60 | - | - | - | - | 3 | Gain | - |
TMEM62 | - | - | - | - | 1 | Loss | - |
TMEM63A | - | - | - | - | 3 | Gain | - |
TMEM63C | p.E721K | Missense | SNP | 0.273 | 2 | - | - |
TMEM64 | - | - | - | - | 3 | Gain | - |
TMEM67 | - | - | - | - | 3 | Gain | - |
TMEM70 | - | - | - | - | 3 | Gain | - |
TMEM72 | - | - | - | - | 1 | Loss | - |
TMEM74 | p.D32N | Missense | SNP | 0.480 | 3 | Gain | - |
TMEM79 | - | - | - | - | 3 | Gain | - |
TMEM81 | - | - | - | - | 3 | Gain | - |
TMEM87A | - | - | - | - | 1 | Loss | - |
TMEM9 | - | - | - | - | 3 | Gain | - |
TMF1 | - | - | - | - | 3 | Gain | - |
TMOD2 | - | - | - | - | 1 | Loss | - |
TMOD3 | - | - | - | - | 1 | Loss | - |
TMPRSS11F | p.R274Q | Missense | SNP | 0.370 | 2 | - | - |
TMPRSS15 | p.D670N p.P521S p.D493N | Missense Missense Missense | SNP SNP SNP | 0.320 0.307 0.324 | 2 | - | - |
TMPRSS6 | - | - | - | - | 3 | Gain | - |
TMPRSS7 | - | - | - | - | 3 | Gain | - |
TMPRSS9 | p.G1000N | Missense | DNP | 0.466 | 2 | - | - |
TMUB1 | - | - | - | - | 3 | Gain | - |
TNFAIP8L3 | - | - | - | - | 1 | Loss | - |
TNFRSF11B | - | - | - | - | 3 | Gain | - |
TNFRSF13C | - | - | - | - | 3 | Gain | - |
TNFRSF25 | p.Q101* | Nonsense | SNP | 0.270 | 2 | - | - |
TNFSF10 | - | - | - | - | 3 | Gain | - |
TNFSF18 | - | - | - | - | 3 | Gain | - |
TNFSF4 | - | - | - | - | 3 | Gain | - |
TNIK | - | - | - | - | 3 | Gain | - |
TNIP3 | - | - | - | - | 1 | Loss | - |
TNK2 | - | - | - | - | 3 | Gain | - |
TNN | - | - | - | - | 3 | Gain | - |
TNNI1 | - | - | - | - | 3 | Gain | - |
TNNI3K | - | - | - | - | 3 | Gain | - |
TNNT2 | - | - | - | - | 3 | Gain | - |
TNPO3 | - | - | - | - | 3 | Gain | - |
TNR | p.E544K | Missense | SNP | 0.836 | 3 | Gain | - |
TNRC18 | - | - | - | - | 3 | Gain | - |
TNRC6B | - | - | - | - | 3 | Gain | - |
TNS3 | - | - | - | - | 3 | Gain | - |
TNXB | p.S2002F | Missense | SNP | 0.284 | 1 | Loss | - |
TOB2 | - | - | - | - | 3 | Gain | - |
TOM1 | p.S123F | Missense | SNP | 0.248 | 3 | Gain | - |
TOMM20 | - | - | - | - | 3 | Gain | - |
TOMM22 | - | - | - | - | 3 | Gain | - |
TOMM40L | - | - | - | - | 3 | Gain | - |
TOMM7 | - | - | - | - | 3 | Gain | - |
TOMM70 | - | - | - | - | 3 | Gain | - |
TOP3B | - | - | - | - | 3 | Gain | - |
TOPBP1 | - | - | - | - | 3 | Gain | - |
TOPORS | - | - | - | - | 0 | Del | - |
TOR1AIP1 | - | - | - | - | 3 | Gain | - |
TOR1AIP2 | - | - | - | - | 3 | Gain | - |
TOR3A | - | - | - | - | 3 | Gain | - |
TOX | - | - | - | - | 3 | Gain | - |
TOX3 | - | - | - | - | 1 | Loss | - |
TP53 | p.R110C | Missense | SNP | 0.261 | 2 | - | - |
TP53BP1 | - | - | - | - | 1 | Loss | - |
TP53BP2 | - | - | - | - | 3 | Gain | - |
TP53INP1 | - | - | - | - | 3 | Gain | - |
TP63 | - | - | - | - | 3 | Gain | - |
TPD52 | - | - | - | - | 3 | Gain | - |
TPD52L3 | - | - | - | - | 0 | Del | - |
TPK1 | - | - | - | - | 3 | Gain | - |
TPM1 | - | - | - | - | 3 | Gain | - |
TPM3 | - | - | - | - | 3 | Gain | - |
TPPP3 | - | - | - | - | 1 | Loss | - |
TPR | - | - | - | - | 3 | Gain | - |
TPRA1 | - | - | - | - | 3 | Gain | - |
TPRG1 | - | - | - | - | 3 | Gain | - |
TPST1 | - | - | - | - | 3 | Gain | - |
TPST2 | - | - | - | - | 3 | Gain | - |
TPTEP2-CSNK1E | - | - | - | - | 3 | Gain | - |
TRA2A | - | - | - | - | 3 | Gain | - |
TRA2B | - | - | - | - | 3 | Gain | - |
TRABD | - | - | - | - | 3 | Gain | - |
TRADD | - | - | - | - | 1 | Loss | - |
TRAF3IP3 | p.E193K | Missense | SNP | 0.172 | 3 | Gain | - |
TRAF5 | - | - | - | - | 3 | Gain | - |
TRAM1 | - | - | - | - | 3 | Gain | - |
TRAM1L1 | - | - | - | - | 1 | Loss | - |
TRANK1 | p.L1418F | Missense | SNP | 0.223 | 2 | - | - |
TRAPPC10 | p.E735* | Nonsense | SNP | 0.520 | 2 | - | - |
TRAPPC2L | - | - | - | - | 1 | Loss | - |
TRAT1 | - | - | - | - | 3 | Gain | - |
TRAV12-1 | p.S51F p.S93F | Missense Missense | SNP SNP | 0.323 0.281 | ND | ND | - |
TRBV2 | p.S67F | Missense | SNP | 0.323 | ND | ND | - |
TRDMT1 | - | - | - | - | 1 | Loss | - |
TRH | - | - | - | - | 3 | Gain | - |
TRHR | p.D237N | Missense | SNP | 0.410 | 3 | Gain | - |
TRIL | - | - | - | - | 3 | Gain | - |
TRIM11 | - | - | - | - | 3 | Gain | - |
TRIM17 | - | - | - | - | 3 | Gain | - |
TRIM2 | - | - | - | - | 1 | Loss | - |
TRIM22 | p.R476* | Nonsense | SNP | 0.553 | 2 | - | - |
TRIM24 | p.N995K | Missense | SNP | 0.730 | 3 | Gain | - |
TRIM4 | - | - | - | - | 3 | Gain | - |
TRIM41 | - | - | - | - | 1 | Loss | - |
TRIM42 | - | - | - | - | 3 | Gain | - |
TRIM46 | - | - | - | - | 3 | Gain | - |
TRIM50 | - | - | - | - | 3 | Gain | - |
TRIM52 | - | - | - | - | 1 | Loss | - |
TRIM55 | - | - | - | - | 3 | Gain | - |
TRIM56 | - | - | - | - | 3 | Gain | - |
TRIM58 | - | - | - | - | 3 | Gain | - |
TRIM59 | - | - | - | - | 3 | Gain | - |
TRIM64B | p.S379F | Missense | SNP | 0.175 | 2 | - | - |
TRIM67 | - | - | - | - | 3 | Gain | - |
TRIM69 | - | - | - | - | 1 | Loss | - |
TRIM7 | - | - | - | - | 1 | Loss | - |
TRIM71 | p.S396F | Missense | SNP | 0.237 | 2 | - | - |
TRIM73 | - | - | - | - | 3 | Gain | - |
TRIM74 | - | - | - | - | 3 | Gain | - |
TRIML1 | p.E45K | Missense | SNP | 0.391 | 2 | - | - |
TRIOBP | - | - | - | - | 3 | Gain | - |
TRIP10 | p.L569F | Missense | SNP | 0.449 | 2 | - | - |
TRIP4 | - | - | - | - | 3 | Gain | - |
TRIP6 | - | - | - | - | 3 | Gain | - |
TRIQK | - | - | - | - | 3 | Gain | - |
TRMT10A | - | - | - | - | 1 | Loss | - |
TRMT10C | - | - | - | - | 3 | Gain | - |
TRMT13 | - | - | - | - | 3 | Gain | - |
TRMT1L | - | - | - | - | 3 | Gain | - |
TRMT2A | - | - | - | - | 3 | Gain | - |
TRMU | - | - | - | - | 3 | Gain | - |
TROAP | p.S123F | Missense | SNP | 0.310 | 2 | - | - |
TROVE2 | - | - | - | - | 3 | Gain | - |
TRPA1 | - | - | - | - | 3 | Gain | - |
TRPC1 | - | - | - | - | 3 | Gain | - |
TRPC3 | - | - | - | - | 1 | Loss | - |
TRPM1 | p.S1601F | Missense | SNP | 0.519 | 2 | - | - |
TRPM6 | p.S504L | Missense | SNP | 0.920 | 2 | - | - |
TRPM7 | - | - | - | - | 1 | Loss | - |
TRPS1 | - | - | - | - | 3 | Gain | - |
TRPV5 | p.R589K | Missense | SNP | 0.320 | 3 | Gain | - |
TRPV6 | - | - | - | - | 3 | Gain | - |
TRRAP | - | - | - | - | 3 | Gain | - |
TRUB2 | p.R271K | Missense | SNP | 0.942 | 2 | - | - |
TSACC | - | - | - | - | 3 | Gain | - |
TSC22D2 | - | - | - | - | 3 | Gain | - |
TSC22D4 | - | - | - | - | 3 | Gain | - |
TSEN15 | - | - | - | - | 3 | Gain | - |
TSGA13 | - | - | - | - | 3 | Gain | - |
TSHZ3 | p.S525F | Missense | SNP | 0.523 | 2 | - | - |
TSKS | p.G413E | Missense | SNP | 0.420 | 2 | - | - |
TSKU | p.A10V | Missense | SNP | 0.266 | 2 | - | - |
TSNAX | - | - | - | - | 3 | Gain | - |
TSNAX-DISC1 | - | - | - | - | 3 | Gain | - |
TSNAXIP1 | - | - | - | - | 1 | Loss | - |
TSPAN12 | - | - | - | - | 3 | Gain | - |
TSPAN13 | - | - | - | - | 3 | Gain | - |
TSPAN16 | - | - | - | - | 3 | Gain | - |
TSPAN3 | - | - | - | - | 3 | Gain | - |
TSPAN33 | - | - | - | - | 3 | Gain | - |
TSPAN5 | - | - | - | - | 1 | Loss | - |
TSPAN8 | p.I116N | Missense | SNP | 0.280 | 2 | - | - |
TSPO | - | - | - | - | 3 | Gain | - |
TSPYL5 | - | - | - | - | 3 | Gain | - |
TSR1 | p.R279* | Nonsense | SNP | 0.404 | 2 | - | - |
TSSK2 | - | - | - | - | 3 | Gain | - |
TST | - | - | - | - | 3 | Gain | - |
TSTD1 | - | - | - | - | 3 | Gain | - |
TTBK2 | - | - | - | - | 1 | Loss | - |
TTC12 | p.A83V | Missense | SNP | 0.261 | 2 | - | - |
TTC13 | - | - | - | - | 3 | Gain | - |
TTC14 | - | - | - | - | 3 | Gain | - |
TTC23 | - | - | - | - | 3 | Gain | - |
TTC24 | - | - | - | - | 3 | Gain | - |
TTC26 | - | - | - | - | 3 | Gain | - |
TTC28 | - | - | - | - | 3 | Gain | - |
TTC29 | p.H187Y | Missense | SNP | 0.556 | 2 | - | - |
TTC33 | - | - | - | - | 3 | Gain | - |
TTC38 | - | - | - | - | 3 | Gain | - |
TTC39B | - | - | - | - | 0 | Del | - |
TTC6 | p.E114K | Missense | SNP | 0.361 | 2 | - | - |
TTLL1 | - | - | - | - | 3 | Gain | - |
TTLL12 | - | - | - | - | 3 | Gain | - |
TTLL13P | - | - | - | - | 3 | Gain | - |
TTLL7 | - | - | - | - | 3 | Gain | - |
TTLL8 | - | - | - | - | 3 | Gain | - |
TTN | p.R18451Q p.P13543H p.E12021K p.E11603K p.E11348K p.P11338T p.E9872K p.D9800N p.W9052L p.W8784* p.E4087K p.R2540C p.I2504V p.S1542L p.E923K | Missense Missense Missense Missense Missense Missense Missense Missense Missense Nonsense Missense Missense Missense Missense Missense | SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP SNP | 0.217 0.500 0.253 0.214 0.458 0.256 0.267 0.402 0.488 0.447 0.283 0.167 0.473 0.531 0.233 | 2 | - | - |
TTPA | - | - | - | - | 3 | Gain | - |
TTYH3 | - | - | - | - | 3 | Gain | - |
TUBA3C | p.P173S | Missense | SNP | 0.544 | 2 | - | - |
TUBA8 | - | - | - | - | 3 | Gain | - |
TUBAL3 | - | - | - | - | 1 | Loss | - |
TUBB3 | - | - | - | - | 1 | Loss | - |
TUBB8 | - | - | - | - | 1 | Loss | - |
TUBGCP4 | - | - | - | - | 1 | Loss | - |
TUBGCP6 | p.S629Y | Missense | DNP | 0.451 | 3 | Gain | - |
TULP2 | p.R170Q | Missense | SNP | 0.381 | 2 | - | - |
TUSC1 | - | - | - | - | 0 | Del | - |
TWIST1 | - | - | - | - | 3 | Gain | - |
TWISTNB | - | - | - | - | 3 | Gain | - |
TXK | p.P268L | Missense | SNP | 0.298 | 2 | - | - |
TXN2 | - | - | - | - | 3 | Gain | - |
TXNDC16 | p.P115S | Missense | SNP | 0.266 | 2 | - | - |
TXNL4B | - | - | - | - | 1 | Loss | - |
TXNRD2 | - | - | - | - | 3 | Gain | - |
TXNRD3 | - | - | - | - | 3 | Gain | - |
TYK2 | - | - | - | - | 3 | Gain | - |
TYRO3 | - | - | - | - | 1 | Loss | - |
TYRP1 | - | - | - | - | 0 | Del | - |
TYW1 | - | - | - | - | 3 | Gain | - |
TYW1B | p.E242K | Missense | SNP | 0.152 | 3 | Gain | - |
TYW3 | - | - | - | - | 3 | Gain | - |
U2SURP | - | - | - | - | 3 | Gain | - |
UACA | - | - | - | - | 3 | Gain | - |
UAP1 | - | - | - | - | 3 | Gain | - |
UBA3 | - | - | - | - | 3 | Gain | - |
UBA5 | - | - | - | - | 3 | Gain | - |
UBAP1 | - | - | - | - | 0 | Del | - |
UBAP1L | - | - | - | - | 3 | Gain | - |
UBAP2 | p.R149K | Missense | SNP | 0.873 | 0 | Del | - |
UBAP2L | - | - | - | - | 3 | Gain | - |
UBE2D1 | - | - | - | - | 1 | Loss | - |
UBE2D3 | - | - | - | - | 1 | Loss | - |
UBE2D4 | - | - | - | - | 3 | Gain | - |
UBE2H | - | - | - | - | 3 | Gain | - |
UBE2L3 | - | - | - | - | 3 | Gain | - |
UBE2Q1 | - | - | - | - | 3 | Gain | - |
UBE2Q2 | - | - | - | - | 3 | Gain | - |
UBE2Q2L | - | - | - | - | 3 | Gain | - |
UBE2QL1 | p.E149K | Missense | SNP | 0.190 | 2 | - | - |
UBE2R2 | - | - | - | - | 0 | Del | - |
UBE2T | - | - | - | - | 3 | Gain | - |
UBE2U | - | - | - | - | 3 | Gain | - |
UBE2W | - | - | - | - | 3 | Gain | - |
UBE3C | - | - | - | - | 3 | Gain | - |
UBL7 | - | - | - | - | 3 | Gain | - |
UBN2 | p.R247C | Missense | SNP | 0.163 | 3 | Gain | - |
UBQLN4 | - | - | - | - | 3 | Gain | - |
UBR1 | - | - | - | - | 1 | Loss | - |
UBR5 | - | - | - | - | 3 | Gain | - |
UBXN7 | - | - | - | - | 3 | Gain | - |
UCHL5 | - | - | - | - | 3 | Gain | - |
UCK2 | - | - | - | - | 3 | Gain | - |
UCMA | - | - | - | - | 1 | Loss | - |
UCN3 | - | - | - | - | 1 | Loss | - |
UFC1 | - | - | - | - | 3 | Gain | - |
UFD1 | - | - | - | - | 3 | Gain | - |
UFSP1 | - | - | - | - | 3 | Gain | - |
UGT1A10 | p.S122L | Missense | SNP | 0.247 | 2 | - | - |
UGT2A1 | - | - | - | - | 1 | Loss | - |
UGT2A2 | - | - | - | - | 1 | Loss | - |
UGT2A3 | p.P387S | Missense | SNP | 0.459 | 1 | Loss | - |
UGT2B10 | - | - | - | - | 1 | Loss | - |
UGT2B11 | - | - | - | - | 1 | Loss | - |
UGT2B15 | p.D493N | Missense | SNP | 0.200 | 1 | Loss | - |
UGT2B17 | - | - | - | - | 1 | Loss | - |
UGT2B28 | - | - | - | - | 1 | Loss | - |
UGT2B4 | - | - | - | - | 1 | Loss | - |
UGT2B7 | - | - | - | - | 1 | Loss | - |
UGT8 | - | - | - | - | 1 | Loss | - |
UHMK1 | - | - | - | - | 3 | Gain | - |
UHRF2 | - | - | - | - | 0 | Del | - |
ULK3 | - | - | - | - | 3 | Gain | - |
ULK4 | p.S1110F | Missense | SNP | 0.233 | 2 | - | - |
UMAD1 | - | - | - | - | 3 | Gain | - |
UMPS | - | - | - | - | 3 | Gain | - |
UNC13C | p.E85D p.D919N p.L2203P | Missense Missense Missense | SNP SNP SNP | 0.472 0.155 0.494 | 3 | Gain | - |
UNC45A | - | - | - | - | 3 | Gain | - |
UNC5C | - | - | - | - | 1 | Loss | - |
UNC5D | p.Q910* | Nonsense | SNP | 0.481 | 2 | - | - |
UNC80 | p.D1373N p.E2185K | Missense Missense | SNP SNP | 0.213 0.227 | 2 | - | - |
UNCX | - | - | - | - | 3 | Gain | - |
UPB1 | - | - | - | - | 3 | Gain | - |
UPF2 | - | - | - | - | 1 | Loss | - |
UPK1B | - | - | - | - | 3 | Gain | - |
UPK3A | - | - | - | - | 3 | Gain | - |
UPK3B | - | - | - | - | 3 | Gain | - |
UPK3BL1 | - | - | - | - | 3 | Gain | - |
UPP1 | - | - | - | - | 3 | Gain | - |
UQCR10 | - | - | - | - | 3 | Gain | - |
UQCRB | - | - | - | - | 3 | Gain | - |
URB2 | - | - | - | - | 3 | Gain | - |
URGCP | - | - | - | - | 3 | Gain | - |
URGCP-MRPS24 | - | - | - | - | 3 | Gain | - |
UROC1 | p.A196V | Missense | SNP | 0.473 | 3 | Gain | - |
USB1 | - | - | - | - | 1 | Loss | - |
USF1 | - | - | - | - | 3 | Gain | - |
USF3 | - | - | - | - | 3 | Gain | - |
USH2A | p.R2509W p.P1531S | Missense Missense | SNP SNP | 0.150 0.786 | 3 | Gain | - |
USHBP1 | p.L269F | Missense | SNP | 0.285 | 2 | - | - |
USO1 | - | - | - | - | 1 | Loss | - |
USP1 | - | - | - | - | 3 | Gain | - |
USP10 | - | - | - | - | 1 | Loss | - |
USP13 | - | - | - | - | 3 | Gain | - |
USP18 | - | - | - | - | 3 | Gain | - |
USP19 | p.P289L | Missense | SNP | 0.293 | 2 | - | - |
USP21 | - | - | - | - | 3 | Gain | - |
USP26 | p.S787F | Missense | SNP | 0.511 | ND | ND | - |
USP29 | p.E912K | Missense | SNP | 0.245 | 2 | - | - |
USP3 | - | - | - | - | 3 | Gain | - |
USP33 | - | - | - | - | 3 | Gain | - |
USP41 | p.G61E | Missense | SNP | 0.206 | 3 | Gain | - |
USP42 | - | - | - | - | 3 | Gain | - |
USP43 | p.E316K | Missense | SNP | 0.301 | 2 | - | - |
USP46 | p.R60W | Missense | SNP | 0.229 | 2 | - | - |
USP50 | - | - | - | - | 1 | Loss | - |
USP53 | - | - | - | - | 1 | Loss | - |
USP6NL | - | - | - | - | 1 | Loss | - |
USP8 | - | - | - | - | 1 | Loss | - |
UTP14C | p.D601Y | Missense | SNP | 0.240 | 2 | - | - |
UTP23 | - | - | - | - | 3 | Gain | - |
UTP25 | - | - | - | - | 3 | Gain | - |
UTP4 | - | - | - | - | 1 | Loss | - |
UTS2B | - | - | - | - | 3 | Gain | - |
VAC14 | - | - | - | - | 1 | Loss | - |
VAMP4 | - | - | - | - | 3 | Gain | - |
VANGL2 | - | - | - | - | 3 | Gain | - |
VASH2 | - | - | - | - | 3 | Gain | - |
VAT1L | - | - | - | - | 1 | Loss | - |
VCAM1 | - | - | - | - | 3 | Gain | - |
VCPIP1 | - | - | - | - | 3 | Gain | - |
VEPH1 | - | - | - | - | 3 | Gain | - |
VGF | - | - | - | - | 3 | Gain | - |
VGLL3 | - | - | - | - | 3 | Gain | - |
VHLL | - | - | - | - | 3 | Gain | - |
VIM | - | - | - | - | 1 | Loss | - |
VIPR1 | p.D362N | Missense | SNP | 0.507 | 2 | - | - |
VIPR2 | - | - | - | - | 3 | Gain | - |
VIRMA | - | - | - | - | 3 | Gain | - |
VKORC1L1 | - | - | - | - | 3 | Gain | - |
VLDLR | - | - | - | - | 0 | Del | - |
VOPP1 | - | - | - | - | 3 | Gain | - |
VPREB1 | - | - | - | - | 3 | Gain | - |
VPREB3 | - | - | - | - | 3 | Gain | - |
VPS13A | p.D2685N | Missense | SNP | 0.643 | 2 | - | - |
VPS13B | - | - | - | - | 3 | Gain | - |
VPS13C | - | - | - | - | 3 | Gain | - |
VPS18 | - | - | - | - | 1 | Loss | - |
VPS33A | p.R70C | Missense | SNP | 0.534 | 2 | - | - |
VPS33B | - | - | - | - | 3 | Gain | - |
VPS35 | - | - | - | - | 1 | Loss | - |
VPS37D | - | - | - | - | 3 | Gain | - |
VPS39 | - | - | - | - | 1 | Loss | - |
VPS41 | - | - | - | - | 3 | Gain | - |
VPS4A | - | - | - | - | 1 | Loss | - |
VPS50 | - | - | - | - | 4 | Gain | - |
VPS8 | - | - | - | - | 3 | Gain | - |
VPS9D1 | - | - | - | - | 1 | Loss | - |
VRTN | p.Q559* | Nonsense | SNP | 0.371 | 2 | - | - |
VSIG8 | - | - | - | - | 3 | Gain | - |
VSTM2A | - | - | - | - | 3 | Gain | - |
VSTM4 | - | - | - | - | 1 | Loss | - |
VTCN1 | p.P171T | Missense | SNP | 0.791 | 2 | - | - |
VWA5B2 | - | - | - | - | 3 | Gain | - |
VWC2 | - | - | - | - | 3 | Gain | - |
VWDE | p.S626L | Missense | SNP | 0.126 | 3 | Gain | - |
VWF | p.P2694S | Missense | SNP | 0.484 | 2 | - | - |
VXN | - | - | - | - | 3 | Gain | - |
WAC | - | - | - | - | 1 | Loss | - |
WAS | p.W500* | Nonsense | SNP | 0.562 | ND | ND | - |
WASHC2A | - | - | - | - | 1 | Loss | - |
WASHC2C | - | - | - | - | 1 | Loss | - |
WASL | - | - | - | - | 3 | Gain | - |
WBP1 | p.F34L | Missense | SNP | 0.534 | 2 | - | - |
WBP2NL | - | - | - | - | 3 | Gain | - |
WDFY3 | - | - | - | - | 1 | Loss | - |
WDFY4 | p.S1007F | Missense | SNP | 0.416 | 1 | Loss | - |
WDR1 | p.P417L | Missense | SNP | 0.374 | 2 | - | - |
WDR18 | p.P352S | Missense | SNP | 0.184 | 2 | - | - |
WDR26 | - | - | - | - | 3 | Gain | - |
WDR35 | p.V373L | Missense | SNP | 0.449 | 2 | - | - |
WDR37 | - | - | - | - | 1 | Loss | - |
WDR49 | - | - | - | - | 3 | Gain | - |
WDR53 | - | - | - | - | 3 | Gain | - |
WDR59 | - | - | - | - | 1 | Loss | - |
WDR5B | - | - | - | - | 3 | Gain | - |
WDR60 | - | - | - | - | 3 | Gain | - |
WDR61 | - | - | - | - | 3 | Gain | - |
WDR63 | - | - | - | - | 3 | Gain | - |
WDR64 | - | - | - | - | 3 | Gain | - |
WDR66 | p.P881L | Missense | SNP | 0.456 | 2 | - | - |
WDR70 | - | - | - | - | 3 | Gain | - |
WDR72 | - | - | - | - | 3 | Gain | - |
WDR73 | - | - | - | - | 3 | Gain | - |
WDR76 | - | - | - | - | 1 | Loss | - |
WDR78 | - | - | - | - | 3 | Gain | - |
WDR86 | - | - | - | - | 3 | Gain | - |
WDR87 | p.M1862I p.E1328K | Missense Missense | SNP SNP | 0.451 0.207 | 2 | - | - |
WDR91 | - | - | - | - | 3 | Gain | - |
WDR93 | - | - | - | - | 3 | Gain | - |
WEE2 | p.G421R | Missense | SNP | 0.278 | 3 | Gain | - |
WFDC1 | - | - | - | - | 1 | Loss | - |
WHAMM | - | - | - | - | 3 | Gain | - |
WIPF3 | - | - | - | - | 3 | Gain | - |
WIPI2 | - | - | - | - | 3 | Gain | - |
WLS | - | - | - | - | 3 | Gain | - |
WNT16 | - | - | - | - | 3 | Gain | - |
WNT2 | - | - | - | - | 3 | Gain | - |
WNT3A | - | - | - | - | 3 | Gain | - |
WNT6 | p.R244C | Missense | SNP | 0.264 | 2 | - | - |
WNT7B | - | - | - | - | 3 | Gain | - |
WNT9A | - | - | - | - | 3 | Gain | - |
WWOX | p.L225F | Missense | SNP | 0.483 | 1 | Loss | - |
WWP1 | - | - | - | - | 3 | Gain | - |
WWP2 | - | - | - | - | 1 | Loss | - |
WWTR1 | - | - | - | - | 3 | Gain | - |
XBP1 | - | - | - | - | 3 | Gain | - |
XCL1 | - | - | - | - | 3 | Gain | - |
XCL2 | - | - | - | - | 3 | Gain | - |
XDH | p.G458E | Missense | SNP | 0.185 | 2 | - | - |
XIRP1 | p.M1060I | Missense | SNP | 0.551 | 2 | - | - |
XIRP2 | p.H341Y p.E568K | Missense Missense | SNP SNP | 0.528 0.235 | 2 | - | - |
XKR3 | - | - | - | - | 3 | Gain | - |
XKR5 | p.G558S | Missense | SNP | 0.250 | 2 | - | - |
XKR9 | - | - | - | - | 3 | Gain | - |
XPNPEP3 | - | - | - | - | 3 | Gain | - |
XPO4 | - | - | - | - | 3 | Gain | - |
XPR1 | - | - | - | - | 3 | Gain | - |
XRCC2 | - | - | - | - | 3 | Gain | - |
XRCC6 | - | - | - | - | 3 | Gain | - |
XRN1 | - | - | - | - | 3 | Gain | - |
XXYLT1 | - | - | - | - | 3 | Gain | - |
XYLT1 | p.M445I | Missense | SNP | 0.398 | 2 | - | - |
YAE1 | - | - | - | - | 3 | Gain | - |
YDJC | - | - | - | - | 3 | Gain | - |
YEATS2 | p.P472L | Missense | SNP | 0.421 | 3 | Gain | - |
YIPF2 | - | - | - | - | 3 | Gain | - |
YKT6 | - | - | - | - | 3 | Gain | - |
YME1L1 | - | - | - | - | 1 | Loss | - |
YOD1 | - | - | - | - | 3 | Gain | - |
YPEL1 | - | - | - | - | 3 | Gain | - |
YTHDF3 | - | - | - | - | 3 | Gain | - |
YWHAG | - | - | - | - | 3 | Gain | - |
YWHAH | - | - | - | - | 3 | Gain | - |
YWHAZ | - | - | - | - | 3 | Gain | - |
YY1AP1 | - | - | - | - | 3 | Gain | - |
Z82190.2 | - | - | - | - | 3 | Gain | - |
Z83844.1 | - | - | - | - | 3 | Gain | - |
Z83844.3 | - | - | - | - | 3 | Gain | - |
ZAN | p.Q2530* | Nonsense | SNP | 0.557 | 3 | Gain | - |
ZBBX | - | - | - | - | 3 | Gain | - |
ZBED2 | - | - | - | - | 3 | Gain | - |
ZBED4 | - | - | - | - | 3 | Gain | - |
ZBED6 | - | - | - | - | 3 | Gain | - |
ZBED6CL | - | - | - | - | 3 | Gain | - |
ZBTB10 | - | - | - | - | 3 | Gain | - |
ZBTB11 | - | - | - | - | 3 | Gain | - |
ZBTB18 | - | - | - | - | 3 | Gain | - |
ZBTB20 | - | - | - | - | 3 | Gain | - |
ZBTB22 | p.M524I | Missense | SNP | 0.695 | 2 | - | - |
ZBTB37 | - | - | - | - | 4 | Gain | - |
ZBTB38 | - | - | - | - | 3 | Gain | - |
ZBTB4 | p.P288L | Missense | SNP | 0.241 | 2 | - | - |
ZBTB41 | - | - | - | - | 3 | Gain | - |
ZBTB43 | p.P13S | Missense | SNP | 0.624 | 2 | - | - |
ZBTB47 | p.P408S | Missense | SNP | 0.180 | 2 | - | - |
ZBTB7B | - | - | - | - | 3 | Gain | - |
ZC2HC1A | - | - | - | - | 3 | Gain | - |
ZC3H11A | - | - | - | - | 3 | Gain | - |
ZC3H18 | - | - | - | - | 1 | Loss | - |
ZC3H7B | - | - | - | - | 3 | Gain | - |
ZC3HAV1 | - | - | - | - | 3 | Gain | - |
ZC3HAV1L | - | - | - | - | 3 | Gain | - |
ZC3HC1 | - | - | - | - | 3 | Gain | - |
ZC4H2 | p.K102E | Missense | SNP | 0.388 | ND | ND | - |
ZCCHC14 | - | - | - | - | 1 | Loss | - |
ZCWPW1 | - | - | - | - | 3 | Gain | - |
ZCWPW2 | p.W150* | Nonsense | SNP | 0.489 | 2 | - | - |
ZDBF2 | p.R2047Q | Missense | DNP | 0.487 | 2 | - | - |
ZDHHC1 | - | - | - | - | 1 | Loss | - |
ZDHHC19 | - | - | - | - | 3 | Gain | - |
ZDHHC21 | - | - | - | - | 0 | Del | - |
ZDHHC23 | - | - | - | - | 3 | Gain | - |
ZDHHC4 | - | - | - | - | 3 | Gain | - |
ZDHHC6 | p.S376T | Missense | SNP | 0.941 | 2 | - | - |
ZDHHC7 | - | - | - | - | 1 | Loss | - |
ZDHHC8 | - | - | - | - | 3 | Gain | - |
ZEB1 | - | - | - | - | 1 | Loss | - |
ZFAND1 | - | - | - | - | 3 | Gain | - |
ZFAND2A | - | - | - | - | 3 | Gain | - |
ZFAND4 | - | - | - | - | 1 | Loss | - |
ZFAND6 | - | - | - | - | 3 | Gain | - |
ZFHX2 | - | - | - | - | 1 | Loss | - |
ZFHX3 | p.L32F | Missense | SNP | 0.904 | 1 | Loss | - |
ZFHX4 | p.S2565F | Missense | SNP | 0.260 | 3 | Gain | - |
ZFP1 | - | - | - | - | 1 | Loss | - |
ZFP2 | p.E2K | Missense | SNP | 0.261 | 2 | - | - |
ZFP90 | - | - | - | - | 1 | Loss | - |
ZFPM1 | - | - | - | - | 1 | Loss | - |
ZFPM2 | p.P676L | Missense | SNP | 0.497 | 3 | Gain | - |
ZFR2 | p.P54S | Missense | SNP | 0.460 | 2 | - | - |
ZFYVE19 | - | - | - | - | 1 | Loss | - |
ZFYVE26 | p.L1914F | Missense | SNP | 0.626 | 2 | - | - |
ZGLP1 | - | - | - | - | 3 | Gain | - |
ZGRF1 | - | - | - | - | 1 | Loss | - |
ZHX2 | - | - | - | - | 3 | Gain | - |
ZIC1 | - | - | - | - | 3 | Gain | - |
ZIC4 | - | - | - | - | 3 | Gain | - |
ZIM3 | p.G397E | Missense | SNP | 0.175 | 2 | - | - |
ZKSCAN1 | - | - | - | - | 3 | Gain | - |
ZKSCAN5 | - | - | - | - | 3 | Gain | - |
ZMAT2 | p.M133V | Missense | SNP | 0.710 | 2 | - | - |
ZMAT3 | - | - | - | - | 3 | Gain | - |
ZMAT5 | - | - | - | - | 3 | Gain | - |
ZMIZ1 | p.S145L | Missense | SNP | 0.493 | 2 | - | - |
ZMIZ2 | - | - | - | - | 3 | Gain | - |
ZMYM2 | - | - | - | - | 3 | Gain | - |
ZMYM5 | - | - | - | - | 3 | Gain | - |
ZMYND11 | - | - | - | - | 1 | Loss | - |
ZNF10 | p.S251L | Missense | SNP | 0.558 | 2 | - | - |
ZNF106 | - | - | - | - | 1 | Loss | - |
ZNF112 | p.E585K p.C583R | Missense Missense | SNP SNP | 0.306 0.183 | 2 | - | - |
ZNF12 | - | - | - | - | 3 | Gain | - |
ZNF124 | - | - | - | - | 3 | Gain | - |
ZNF131 | - | - | - | - | 3 | Gain | - |
ZNF14 | p.R542C | Missense | SNP | 0.179 | 2 | - | - |
ZNF146 | p.H234Y | Missense | SNP | 0.226 | 2 | - | - |
ZNF148 | - | - | - | - | 3 | Gain | - |
ZNF182 | p.R282Q | Missense | SNP | 1.000 | ND | ND | - |
ZNF19 | - | - | - | - | 1 | Loss | - |
ZNF202 | p.P456L | Missense | SNP | 0.282 | 2 | - | - |
ZNF212 | - | - | - | - | 3 | Gain | - |
ZNF22 | - | - | - | - | 1 | Loss | - |
ZNF227 | p.S136F | Missense | SNP | 0.460 | 2 | - | - |
ZNF23 | - | - | - | - | 1 | Loss | - |
ZNF233 | p.H308Y | Missense | SNP | 0.226 | 2 | - | - |
ZNF236 | p.D1566E | Missense | SNP | 0.596 | 2 | - | - |
ZNF239 | - | - | - | - | 1 | Loss | - |
ZNF248 | - | - | - | - | 1 | Loss | - |
ZNF25 | - | - | - | - | 1 | Loss | - |
ZNF276 | - | - | - | - | 1 | Loss | - |
ZNF277 | - | - | - | - | 3 | Gain | - |
ZNF280A | - | - | - | - | 3 | Gain | - |
ZNF280B | - | - | - | - | 3 | Gain | - |
ZNF280D | - | - | - | - | 3 | Gain | - |
ZNF281 | - | - | - | - | 3 | Gain | - |
ZNF282 | - | - | - | - | 3 | Gain | - |
ZNF285 | p.S337F | Missense | SNP | 0.295 | 2 | - | - |
ZNF286B | p.A475V | Missense | DNP | 0.485 | 2 | - | - |
ZNF3 | - | - | - | - | 3 | Gain | - |
ZNF316 | - | - | - | - | 3 | Gain | - |
ZNF319 | - | - | - | - | 1 | Loss | - |
ZNF32 | - | - | - | - | 1 | Loss | - |
ZNF326 | - | - | - | - | 3 | Gain | - |
ZNF33A | p.H108Y | Missense | SNP | 1.000 | 1 | Loss | - |
ZNF33B | - | - | - | - | 1 | Loss | - |
ZNF354A | p.P493S | Missense | SNP | 0.593 | 2 | - | - |
ZNF354B | p.S228F | Missense | SNP | 0.228 | 2 | - | - |
ZNF37A | - | - | - | - | 1 | Loss | - |
ZNF394 | - | - | - | - | 3 | Gain | - |
ZNF398 | - | - | - | - | 3 | Gain | - |
ZNF419 | p.K448N | Missense | SNP | 0.529 | 2 | - | - |
ZNF420 | p.E388K | Missense | SNP | 0.203 | 2 | - | - |
ZNF423 | - | - | - | - | 1 | Loss | - |
ZNF425 | - | - | - | - | 3 | Gain | - |
ZNF438 | - | - | - | - | 1 | Loss | - |
ZNF467 | - | - | - | - | 3 | Gain | - |
ZNF469 | - | - | - | - | 1 | Loss | - |
ZNF479 | p.S91F | Missense | SNP | 0.177 | 2 | - | - |
ZNF485 | - | - | - | - | 1 | Loss | - |
ZNF486 | p.E113K | Missense | SNP | 0.236 | 2 | - | - |
ZNF487 | - | - | - | - | 1 | Loss | - |
ZNF488 | - | - | - | - | 1 | Loss | - |
ZNF492 | p.Q64* | Nonsense | SNP | 0.210 | 2 | - | - |
ZNF496 | - | - | - | - | 3 | Gain | - |
ZNF529 | p.P15L | Missense | SNP | 0.227 | 2 | - | - |
ZNF534 | p.D35N p.S156F p.H329Y | Missense Missense Missense | SNP SNP SNP | 0.210 0.174 0.255 | 2 | - | - |
ZNF544 | p.S683C | Missense | SNP | 0.518 | 2 | - | - |
ZNF560 | p.G690E p.W178* | Missense Nonsense | SNP SNP | 0.243 0.115 | 2 | - | - |
ZNF564 | p.L71F | Missense | SNP | 0.133 | 2 | - | - |
ZNF573 | p.E271K | Missense | SNP | 0.193 | 2 | - | - |
ZNF578 | p.W38* | Nonsense | SNP | 0.264 | 2 | - | - |
ZNF583 | p.E381K | Missense | SNP | 0.272 | 2 | - | - |
ZNF585A | p.Q737* | Nonsense | SNP | 0.516 | 2 | - | - |
ZNF592 | - | - | - | - | 3 | Gain | - |
ZNF606 | p.G536R p.G480R p.P6L | Missense Missense Missense | SNP SNP SNP | 0.223 0.584 0.296 | 2 | - | - |
ZNF607 | p.E71K | Missense | SNP | 0.494 | 2 | - | - |
ZNF609 | p.A867V | Missense | SNP | 0.196 | 3 | Gain | - |
ZNF611 | p.H500Y | Missense | SNP | 0.246 | 2 | - | - |
ZNF627 | - | - | - | - | 3 | Gain | - |
ZNF638 | p.S310F | Missense | SNP | 0.489 | 2 | - | - |
ZNF639 | - | - | - | - | 3 | Gain | - |
ZNF644 | - | - | - | - | 3 | Gain | - |
ZNF648 | - | - | - | - | 3 | Gain | - |
ZNF652 | p.P497L | Missense | SNP | 0.313 | 2 | - | - |
ZNF653 | - | - | - | - | 3 | Gain | - |
ZNF654 | - | - | - | - | 3 | Gain | - |
ZNF655 | - | - | - | - | 3 | Gain | - |
ZNF667 | p.H437Y p.R341K | Missense Missense | SNP SNP | 0.209 0.243 | 2 | - | - |
ZNF669 | - | - | - | - | 3 | Gain | - |
ZNF670 | - | - | - | - | 3 | Gain | - |
ZNF670-ZNF695 | - | - | - | - | 3 | Gain | - |
ZNF672 | - | - | - | - | 3 | Gain | - |
ZNF676 | p.E90K | Missense | SNP | 0.494 | 2 | - | - |
ZNF678 | - | - | - | - | 3 | Gain | - |
ZNF679 | p.H346Y | Missense | SNP | 0.315 | 2 | - | - |
ZNF682 | p.H419Y | Missense | SNP | 0.346 | 2 | - | - |
ZNF69 | p.H176Y | Missense | SNP | 0.478 | 2 | - | - |
ZNF692 | - | - | - | - | 3 | Gain | - |
ZNF695 | - | - | - | - | 3 | Gain | - |
ZNF70 | - | - | - | - | 3 | Gain | - |
ZNF704 | - | - | - | - | 3 | Gain | - |
ZNF706 | - | - | - | - | 3 | Gain | - |
ZNF708 | p.H302Y | Missense | SNP | 0.214 | 2 | - | - |
ZNF710 | - | - | - | - | 3 | Gain | - |
ZNF713 | - | - | - | - | 3 | Gain | - |
ZNF717 | - | - | - | - | 3 | Gain | - |
ZNF727 | p.K165I | Missense | SNP | 0.319 | 2 | - | - |
ZNF728 | p.K128* | Nonsense | SNP | 0.508 | 2 | - | - |
ZNF735 | p.A177T | Missense | SNP | 0.272 | 2 | - | - |
ZNF74 | - | - | - | - | 3 | Gain | - |
ZNF746 | - | - | - | - | 3 | Gain | - |
ZNF77 | p.P163S | Missense | SNP | 0.261 | 2 | - | - |
ZNF770 | - | - | - | - | 1 | Loss | - |
ZNF774 | - | - | - | - | 3 | Gain | - |
ZNF775 | - | - | - | - | 3 | Gain | - |
ZNF777 | - | - | - | - | 3 | Gain | - |
ZNF778 | - | - | - | - | 1 | Loss | - |
ZNF783 | - | - | - | - | 3 | Gain | - |
ZNF786 | - | - | - | - | 3 | Gain | - |
ZNF789 | - | - | - | - | 3 | Gain | - |
ZNF80 | - | - | - | - | 3 | Gain | - |
ZNF800 | - | - | - | - | 3 | Gain | - |
ZNF804A | p.D333N | Missense | SNP | 0.394 | 2 | - | - |
ZNF804B | - | - | - | - | 3 | Gain | - |
ZNF812P | p.S263F | Missense | SNP | 0.187 | ND | ND | - |
ZNF816 | p.H307Y | Missense | SNP | 0.214 | 2 | - | - |
ZNF821 | - | - | - | - | 1 | Loss | - |
ZNF831 | p.E878K | Missense | SNP | 0.269 | 2 | - | - |
ZNF84 | p.S665F | Missense | SNP | 0.277 | 2 | - | - |
ZNF843 | p.W73* | Nonsense | SNP | 0.262 | 2 | - | - |
ZNF845 | p.H657Y | Missense | SNP | 0.517 | 2 | - | - |
ZNF853 | - | - | - | - | 3 | Gain | - |
ZNF862 | - | - | - | - | 3 | Gain | - |
ZNF91 | p.E991K p.S169L | Missense Missense | SNP SNP | 0.470 0.190 | 2 | - | - |
ZNF92 | - | - | - | - | 3 | Gain | - |
ZNF93 | p.P256L | Missense | SNP | 0.158 | 2 | - | - |
ZNF99 | p.E484K | Missense | SNP | 0.391 | 2 | - | - |
ZNHIT1 | - | - | - | - | 3 | Gain | - |
ZNHIT6 | - | - | - | - | 3 | Gain | - |
ZNRF1 | - | - | - | - | 1 | Loss | - |
ZNRF2 | - | - | - | - | 3 | Gain | - |
ZNRF3 | - | - | - | - | 3 | Gain | - |
ZNRF4 | p.ME134IK | Missense | DNP | 0.243 | 2 | - | - |
ZP3 | - | - | - | - | 3 | Gain | - |
ZP4 | - | - | - | - | 3 | Gain | - |
ZPBP | - | - | - | - | 3 | Gain | - |
ZPLD1 | - | - | - | - | 3 | Gain | - |
ZRANB2 | - | - | - | - | 3 | Gain | - |
ZSCAN10 | p.R560C | Missense | SNP | 0.508 | 2 | - | - |
ZSCAN18 | p.S309F | Missense | SNP | 0.177 | 2 | - | - |
ZSCAN2 | - | - | - | - | 3 | Gain | - |
ZSCAN21 | - | - | - | - | 3 | Gain | - |
ZSCAN25 | - | - | - | - | 3 | Gain | - |
ZSCAN29 | - | - | - | - | 1 | Loss | - |
ZSCAN31 | p.E144K | Missense | SNP | 0.646 | 2 | - | - |
ZWILCH | - | - | - | - | 3 | Gain | - |
ZWINT | - | - | - | - | 1 | Loss | - |
ZXDC | - | - | - | - | 3 | Gain | - |
ZYG11A | p.E31K | Missense | SNP | 0.257 | 2 | - | - |
ZYX | - | - | - | - | 3 | Gain | - |
ZZEF1 | p.P2771S | Missense | SNP | 0.584 | 2 | - | - |