PDMR-283228~195-R~A04-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
A2Mp.D1441N
Missense
SNP
0.343
2--
A4GALT-
-
-
-
3Gain-
A4GNT-
-
-
-
3Gain-
AADACp.N298T
Missense
SNP
0.230
3Gain-
AADACL2-
-
-
-
3Gain-
AADACL3p.G123S
Missense
SNP
0.700
2--
AAGAB-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AARS-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
ABCA1p.P1546S
Missense
SNP
0.265
2--
ABCA10p.P864L
Missense
SNP
0.550
2--
ABCA12p.E2209K
p.R1960Q
p.Q223*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.451
0.195
0.281
2--
ABCA13p.A4131V
Missense
SNP
0.328
3Gain-
ABCA3p.P72L
Missense
SNP
0.223
2--
ABCA4-
-
-
-
3Gain-
ABCB1p.G763R
Missense
SNP
0.297
3Gain-
ABCB10-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC4p.G1053D
Missense
SNP
0.231
2--
ABCC5-
-
-
-
3Gain-
ABCC8p.S348F
Missense
SNP
0.337
2--
ABCD3-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABCF3-
-
-
-
3Gain-
ABCG2-
-
-
-
1Loss-
ABCG4p.S69F
Missense
SNP
0.332
2--
ABHD10-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABHD17C-
-
-
-
3Gain-
ABHD2-
-
-
-
3Gain-
ABI1-
-
-
-
1Loss-
ABI3BP-
-
-
-
3Gain-
ABL1p.P872L
Missense
SNP
0.950
2--
ABL2-
-
-
-
3Gain-
ABLIM3p.P11S
Missense
SNP
0.347
2--
ABRA-
-
-
-
3Gain-
ABRAXAS1-
-
-
-
1Loss-
ABTB1-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004832.3-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC004997.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC007326.4-
-
-
-
3Gain-
AC007731.5-
-
-
-
3Gain-
AC008481.3-
-
-
-
3Gain-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009690.1-
-
-
-
3Gain-
AC009690.3-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011330.3-
-
-
-
0Del-
AC011511.1-
-
-
-
3Gain-
AC011511.4-
-
-
-
3Gain-
AC012184.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
3Gain-
AC012476.1-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
3Gain-
AC013489.1-
-
-
-
3Gain-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC022826.2-
-
-
-
3Gain-
AC025287.4-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC040162.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC068631.2-
-
-
-
3Gain-
AC068831.7-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC069368.1-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC087632.1-
-
-
-
3Gain-
AC087721.2-
-
-
-
1Loss-
AC090517.4-
-
-
-
3Gain-
AC090527.2-
-
-
-
1Loss-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC092017.3-
-
-
-
3Gain-
AC092143.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093155.3-
-
-
-
3Gain-
AC093423.3-
-
-
-
3Gain-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC093827.5-
-
-
-
1Loss-
AC097634.4-
-
-
-
3Gain-
AC098582.1-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107871.1-
-
-
-
3Gain-
AC112128.1-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC117457.1-
-
-
-
3Gain-
AC118470.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
3Gain-
AC118553.2-
-
-
-
3Gain-
AC126283.2-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC245033.1-
-
-
-
3Gain-
AC253536.7-
-
-
-
3Gain-
ACAD11-
-
-
-
3Gain-
ACAD9p.S474F
Missense
SNP
0.541
3Gain-
ACADM-
-
-
-
3Gain-
ACANp.P228S
Missense
SNP
0.220
3Gain-
ACAP2-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD5-
-
-
-
1Loss-
ACBD6-
-
-
-
3Gain-
ACBD7-
-
-
-
1Loss-
ACD-
-
-
-
1Loss-
ACER2-
-
-
-
0Del-
ACHE-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACKR4-
-
-
-
3Gain-
ACO1-
-
-
-
0Del-
ACO2-
-
-
-
3Gain-
ACP5-
-
-
-
3Gain-
ACPP-
-
-
-
3Gain-
ACRV1p.G166D
Missense
SNP
0.346
2--
ACSBG1-
-
-
-
3Gain-
ACSF3-
-
-
-
1Loss-
ACSM1p.V489M
Missense
DNP
0.362
2--
ACSM2Ap.S202F
p.P403L
Missense
Missense
SNP
SNP
0.439
0.253
2--
ACSM5p.V503I
Missense
SNP
0.405
2--
ACTA1-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
3Gain-
ACTC1-
-
-
-
1Loss-
ACTL6A-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTRT3-
-
-
-
3Gain-
ADA2-
-
-
-
3Gain-
ADAD1-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAM2p.S440L
Missense
SNP
0.289
2--
ADAM20p.Q3*
Nonsense
SNP
0.289
2--
ADAM22-
-
-
-
3Gain-
ADAM28p.E114K
Missense
SNP
0.321
2--
ADAMTS17-
-
-
-
3Gain-
ADAMTS18-
-
-
-
1Loss-
ADAMTS19p.G560E
Missense
SNP
0.313
2--
ADAMTS20p.E23K
Missense
SNP
0.603
2--
ADAMTS4-
-
-
-
3Gain-
ADAMTS5p.E357K
Missense
SNP
0.555
2--
ADAMTS7-
-
-
-
3Gain-
ADAMTS9p.S1825F
p.L1609V
Missense
Missense
SNP
SNP
0.500
0.462
3Gain-
ADAMTSL1-
-
-
-
0Del-
ADAMTSL3-
-
-
-
3Gain-
ADAP1-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY5-
-
-
-
3Gain-
ADCY7-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
3Gain-
ADD1p.P413S
Missense
SNP
0.202
2--
ADGRB1p.G297S
Missense
SNP
0.552
2--
ADGRE1p.S218L
Missense
SNP
0.273
2--
ADGRE3p.G229R
Missense
SNP
0.470
2--
ADGRE5p.G436S
Missense
SNP
0.225
2--
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRG7-
-
-
-
3Gain-
ADGRL2p.E1081K
p.H1168Y
Missense
Missense
SNP
SNP
0.218
0.622
3Gain-
ADGRL4p.V666A
Missense
SNP
0.677
3Gain-
ADGRV1p.G8E
p.E230K
p.S3561L
Missense
Missense
Missense
SNP
SNP
SNP
0.254
0.333
0.374
2--
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADIPOQ-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADORA1-
-
-
-
3Gain-
ADORA2A-
-
-
-
3Gain-
ADPGK-
-
-
-
3Gain-
ADPRH-
-
-
-
3Gain-
ADSL-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AEN-
-
-
-
3Gain-
AESp.P219L
Missense
SNP
0.220
2--
AFF1-
-
-
-
1Loss-
AFMIDp.D82N
Missense
SNP
0.423
2--
AGAP3-
-
-
-
3Gain-
AGBL1p.P434S
Missense
SNP
0.398
3Gain-
AGBL2p.R319C
Missense
SNP
0.280
2--
AGBL3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGL-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AGTRAPp.R57*
Nonsense
SNP
0.695
2--
AHCTF1-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHNAKp.V4219I
Missense
SNP
0.324
2--
AHNAK2p.P907L
Missense
SNP
0.302
2--
AHR-
-
-
-
3Gain-
AHSG-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIFM2p.P101L
Missense
SNP
0.381
2--
AIFM3-
-
-
-
3Gain-
AIM1p.P746S
Missense
SNP
0.306
NDND-
AIM2-
-
-
-
3Gain-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AK3-
-
-
-
0Del-
AK4-
-
-
-
3Gain-
AK5p.P85L
Missense
SNP
0.687
3Gain-
AKAP11p.L1170F
Missense
SNP
0.594
2--
AKAP13-
-
-
-
3Gain-
AKAP6p.S701F
p.S1508L
Missense
Missense
SNP
SNP
0.298
0.224
2--
AKAP9p.E679K
Missense
SNP
0.377
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL022238.4-
-
-
-
3Gain-
AL022318.4-
-
-
-
3Gain-
AL117339.5-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL157392.5-
-
-
-
1Loss-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
0Del-
AL512785.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALCAM-
-
-
-
3Gain-
ALDH1A2-
-
-
-
3Gain-
ALDH1A3-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALDH9A1-
-
-
-
3Gain-
ALG12-
-
-
-
3Gain-
ALG14p.R27C
Missense
SNP
0.254
3Gain-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALG6-
-
-
-
3Gain-
ALKBH4-
-
-
-
3Gain-
ALMS1p.Y2095F
Missense
SNP
0.218
2--
ALOX12p.W208*
Nonsense
SNP
0.565
2--
ALOX5-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK3-
-
-
-
3Gain-
ALS2CR11p.P814S
Missense
SNP
0.410
NDND-
ALX3p.P42S
Missense
SNP
0.571
2--
AMFR-
-
-
-
1Loss-
AMOTL2-
-
-
-
3Gain-
AMPH-
-
-
-
3Gain-
AMY2A-
-
-
-
3Gain-
AMY2B-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANAPC13-
-
-
-
3Gain-
ANAPC2p.D360N
Missense
SNP
0.370
2--
ANGEL2-
-
-
-
3Gain-
ANGPT1-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL3-
-
-
-
3Gain-
ANGPTL6-
-
-
-
3Gain-
ANGPTL8-
-
-
-
3Gain-
ANHXp.W98*
Nonsense
SNP
0.477
2--
ANK2-
-
-
-
1Loss-
ANK3-
-
-
-
1Loss-
ANKDD1Ap.L95F
Missense
SNP
0.445
3Gain-
ANKHp.R384K
Missense
SNP
0.213
2--
ANKIB1-
-
-
-
4Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD11-
-
-
-
1Loss-
ANKRD13C-
-
-
-
3Gain-
ANKRD16-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
0Del-
ANKRD20A2-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD34C-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
3Gain-
ANKRD54-
-
-
-
3Gain-
ANKRD55-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD63-
-
-
-
1Loss-
ANKRD7-
-
-
-
3Gain-
ANKUB1-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO10p.P452S
Missense
SNP
0.452
2--
ANO6p.S42F
Missense
SNP
0.358
2--
ANP32A-
-
-
-
3Gain-
ANPEP-
-
-
-
3Gain-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA2-
-
-
-
3Gain-
ANXA2R-
-
-
-
3Gain-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AOX1p.E451K
Missense
SNP
0.234
2--
AP000350.4-
-
-
-
3Gain-
AP1AR-
-
-
-
1Loss-
AP1B1-
-
-
-
3Gain-
AP1G1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1M2-
-
-
-
3Gain-
AP1S1-
-
-
-
3Gain-
AP2M1-
-
-
-
3Gain-
AP3B2p.D784N
p.X258_splice
Missense
Splice_Site
SNP
SNP
0.212
0.290
3Gain-
AP3S2-
-
-
-
3Gain-
AP4E1-
-
-
-
1Loss-
AP4M1-
-
-
-
3Gain-
AP5Z1p.S318F
Missense
SNP
0.196
3Gain-
APBB1IP-
-
-
-
1Loss-
APC2p.E1014K
Missense
SNP
0.224
2--
APCS-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOA5p.R143H
Missense
SNP
0.659
2--
APOBp.S3592P
p.K2930N
p.D2730N
Missense
Missense
Missense
SNP
SNP
SNP
0.214
0.241
0.157
2--
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3H-
-
-
-
3Gain-
APOBEC4-
-
-
-
3Gain-
APOBRp.G635E
Missense
SNP
0.451
2--
APOD-
-
-
-
3Gain-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APPp.R747C
Missense
SNP
0.354
2--
APRT-
-
-
-
1Loss-
APTX-
-
-
-
0Del-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP3-
-
-
-
0Del-
AQP7-
-
-
-
0Del-
AQP9-
-
-
-
3Gain-
AQR-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGAP3-
-
-
-
3Gain-
ARFGEF1-
-
-
-
3Gain-
ARFIP1-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26p.S353L
Missense
SNP
0.327
2--
ARHGAP29p.N405Y
Missense
SNP
0.746
3Gain-
ARHGAP30-
-
-
-
3Gain-
ARHGAP31p.P608S
Missense
SNP
0.488
3Gain-
ARHGAP8-
-
-
-
3Gain-
ARHGEF11-
-
-
-
3Gain-
ARHGEF15p.P78L
Missense
SNP
0.367
2--
ARHGEF2-
-
-
-
3Gain-
ARHGEF26-
-
-
-
3Gain-
ARHGEF38-
-
-
-
1Loss-
ARID1Ap.S1091C
p.Q1200*
Missense
Nonsense
SNP
SNP
0.190
0.714
2--
ARID3B-
-
-
-
3Gain-
ARID4B-
-
-
-
3Gain-
ARIH1-
-
-
-
3Gain-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL15-
-
-
-
3Gain-
ARL2BP-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL6IP5-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARMC1-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARMCX4p.P1390L
Missense
SNP
0.449
NDND-
ARNT2-
-
-
-
3Gain-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
3Gain-
ARPP19-
-
-
-
1Loss-
ARPP21p.S76F
p.K127*
Missense
Nonsense
SNP
SNP
0.333
0.506
2--
ARRDC4p.Q234L
Missense
SNP
0.441
3Gain-
ARSBp.P523S
Missense
SNP
0.758
2--
ARSFp.A184V
Missense
SNP
0.943
NDND-
ARSJ-
-
-
-
1Loss-
ART1p.G237E
Missense
SNP
0.644
2--
ART3-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ARVCF-
-
-
-
3Gain-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP3p.P811S
p.P127L
Missense
Missense
SNP
SNP
0.292
0.157
2--
ASB10-
-
-
-
3Gain-
ASB13-
-
-
-
1Loss-
ASB15-
-
-
-
3Gain-
ASB17-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASB7-
-
-
-
3Gain-
ASCC2-
-
-
-
3Gain-
ASCC3p.H1336Y
Missense
SNP
0.316
2--
ASH1L-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNA1p.S231T
Missense
SNP
0.473
2--
ASNS-
-
-
-
3Gain-
ASPDHp.G279E
Missense
SNP
0.254
2--
ASPH-
-
-
-
3Gain-
ASPHD2-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASTE1-
-
-
-
3Gain-
ASTN1p.E502K
Missense
SNP
0.404
3Gain-
ASXL2p.P963S
Missense
SNP
0.498
2--
ASZ1-
-
-
-
3Gain-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATF6Bp.P263S
Missense
SNP
0.319
2--
ATF7IPp.S752T
Missense
SNP
0.622
2--
ATG3-
-
-
-
3Gain-
ATG4C-
-
-
-
3Gain-
ATG4D-
-
-
-
3Gain-
ATG9B-
-
-
-
3Gain-
ATMIN-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5p.D397N
Missense
SNP
0.500
3Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP2B2p.R777Q
Missense
SNP
0.496
2--
ATP2B4p.P113S
Missense
SNP
0.357
3Gain-
ATP2C1-
-
-
-
3Gain-
ATP2C2-
-
-
-
1Loss-
ATP4Ap.E902K
Missense
SNP
0.261
2--
ATP5F1C-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MGL-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1E2p.E61K
Missense
SNP
0.414
2--
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATP8B4p.E587K
Missense
SNP
0.882
1Loss-
ATR-
-
-
-
3Gain-
ATRNp.Q1218*
Nonsense
DNP
0.412
2--
ATXN10-
-
-
-
3Gain-
ATXN1L-
-
-
-
1Loss-
ATXN3Lp.L325H
Missense
SNP
0.976
NDND-
ATXN7p.P656L
Missense
DNP
0.412
3Gain-
ATXN7L1-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVEN-
-
-
-
1Loss-
AVL9-
-
-
-
3Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AXIN2p.P710S
Missense
SNP
0.262
2--
AZGP1-
-
-
-
3Gain-
AZIN1-
-
-
-
3Gain-
B2M-
-
-
-
1Loss-
B3GALNT1-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT1p.R199Q
Missense
SNP
0.249
2--
B3GALT2-
-
-
-
3Gain-
B3GNT2p.E64K
Missense
SNP
0.490
2--
B3GNT5-
-
-
-
3Gain-
B3GNT9-
-
-
-
1Loss-
B4GALT1-
-
-
-
0Del-
B4GALT3-
-
-
-
3Gain-
B4GALT4-
-
-
-
3Gain-
B4GALT6p.P104S
Missense
SNP
0.201
2--
BAALC-
-
-
-
3Gain-
BAG1-
-
-
-
0Del-
BAHD1-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BAP1p.Q253*
Nonsense
SNP
0.221
2--
BARHL2-
-
-
-
3Gain-
BATF3-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BBS12-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BBS4-
-
-
-
3Gain-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BBX-
-
-
-
3Gain-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAR3-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCL10-
-
-
-
3Gain-
BCL2A1-
-
-
-
3Gain-
BCL2L10-
-
-
-
1Loss-
BCL2L13-
-
-
-
3Gain-
BCL6-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BCR-
-
-
-
3Gain-
BDH1-
-
-
-
3Gain-
BDH2-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BET1-
-
-
-
4Gain-
BFARp.T316I
Missense
SNP
0.537
2--
BFSP2-
-
-
-
3Gain-
BGLAP-
-
-
-
3Gain-
BHLHA15-
-
-
-
5Amp-
BHLHE22-
-
-
-
3Gain-
BHMG1p.G215E
Missense
SNP
0.209
2--
BICC1-
-
-
-
1Loss-
BID-
-
-
-
3Gain-
BIK-
-
-
-
3Gain-
BLM-
-
-
-
3Gain-
BLOC1S6-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
1Loss-
BMI1-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3p.S83L
Missense
SNP
0.962
1Loss-
BMPERp.W417*
Nonsense
SNP
0.440
3Gain-
BMPR1B-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
3Gain-
BNC1p.P603L
p.D462N
Missense
Missense
SNP
SNP
0.463
0.219
3Gain-
BNC2-
-
-
-
0Del-
BNIP2-
-
-
-
3Gain-
BOC-
-
-
-
3Gain-
BOP1p.G712R
Missense
SNP
0.331
2--
BORCS8-MEF2Bp.S355F
Missense
SNP
0.494
2--
BPGM-
-
-
-
3Gain-
BPIFCp.T377I
Missense
SNP
0.475
3Gain-
BPNT1-
-
-
-
3Gain-
BRAF-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD1-
-
-
-
3Gain-
BRD7-
-
-
-
1Loss-
BRDT-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRICD5p.R135Q
Missense
DNP
0.535
2--
BRINP2p.P611S
Missense
SNP
0.813
3Gain-
BRINP3-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRWD3p.S1284L
Missense
SNP
0.450
NDND-
BTBD1-
-
-
-
3Gain-
BTBD8-
-
-
-
3Gain-
BTG2-
-
-
-
3Gain-
BTLA-
-
-
-
3Gain-
BTNL3p.G245S
Missense
SNP
0.887
0Del-
BTNL9-
-
-
-
1Loss-
BUB1Bp.P301S
Missense
SNP
0.897
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2p.R62C
Missense
SNP
0.632
3Gain-
C10orf113-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C11orf63p.P395S
Missense
SNP
0.547
NDND-
C11orf91p.P105L
Missense
SNP
0.293
2--
C12orf40p.E606K
Missense
SNP
0.295
2--
C14orf159p.P601S
Missense
SNP
0.307
NDND-
C15orf38-AP3S2-
-
-
-
3Gain-
C15orf39-
-
-
-
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf59p.P256L
Missense
SNP
0.276
NDND-
C15orf61-
-
-
-
3Gain-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
3Gain-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf71p.P287L
Missense
SNP
0.514
2--
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C19orf25p.P52L
Missense
SNP
0.407
2--
C19orf38-
-
-
-
3Gain-
C19orf66-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf141-
-
-
-
3Gain-
C1orf146-
-
-
-
3Gain-
C1orf158p.E178K
Missense
SNP
0.702
2--
C1orf174p.R4W
Missense
DNP
0.184
2--
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf52-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1orf87-
-
-
-
3Gain-
C1QL3-
-
-
-
1Loss-
C1QTNF6-
-
-
-
3Gain-
C22orf15-
-
-
-
3Gain-
C22orf23-
-
-
-
3Gain-
C22orf31-
-
-
-
3Gain-
C22orf39-
-
-
-
3Gain-
C22orf42-
-
-
-
3Gain-
C22orf46-
-
-
-
3Gain-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2orf71p.P1087S
p.A814V
Missense
Missense
SNP
SNP
0.313
0.476
NDND-
C3p.M83I
Missense
SNP
0.244
2--
C3orf14-
-
-
-
3Gain-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf38-
-
-
-
3Gain-
C3orf49-
-
-
-
3Gain-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf85-
-
-
-
3Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf17-
-
-
-
1Loss-
C4orf22p.G87D
Missense
SNP
0.924
NDND-
C4orf3-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf34-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf67-
-
-
-
3Gain-
C6p.G915E
Missense
SNP
0.210
3Gain-
C6orf136p.Y445C
Missense
SNP
0.339
2--
C6orf15p.L199F
Missense
SNP
0.629
2--
C6orf203p.P73S
Missense
SNP
0.512
2--
C7-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26p.Q138*
Nonsense
SNP
0.675
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43p.P143L
Missense
SNP
0.398
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61p.P79L
Missense
SNP
0.455
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf74p.E165K
Missense
SNP
0.406
2--
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9p.S263F
Missense
SNP
0.292
3Gain-
C9orf66-
-
-
-
0Del-
C9orf72-
-
-
-
0Del-
C9orf92-
-
-
-
0Del-
CA1-
-
-
-
3Gain-
CA12-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CA8-
-
-
-
3Gain-
CAAP1-
-
-
-
0Del-
CABIN1-
-
-
-
3Gain-
CABLES2p.G447R
Missense
SNP
0.435
2--
CABP7-
-
-
-
3Gain-
CACHD1-
-
-
-
3Gain-
CACNA1Ep.P1940L
Missense
SNP
0.772
3Gain-
CACNA1I-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D4p.R781K
p.P22S
Missense
Missense
SNP
SNP
0.317
0.292
2--
CACNB2-
-
-
-
1Loss-
CACNG2-
-
-
-
3Gain-
CACYBP-
-
-
-
3Gain-
CADp.T508I
Missense
SNP
0.208
2--
CADM2-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CADPSp.E1168K
Missense
SNP
0.223
3Gain-
CADPS2-
-
-
-
3Gain-
CAGE1p.G715R
Missense
SNP
0.551
2--
CALB1p.G245E
Missense
SNP
0.256
3Gain-
CALB2-
-
-
-
1Loss-
CALCR-
-
-
-
4Gain-
CALD1-
-
-
-
3Gain-
CALML3-
-
-
-
1Loss-
CALML4-
-
-
-
3Gain-
CALML5-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK1p.D170N
Missense
SNP
0.467
2--
CAMK1D-
-
-
-
1Loss-
CAMK1G-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAMK2D-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CAMKMTp.P314S
Missense
SNP
0.403
2--
CAMSAP2-
-
-
-
3Gain-
CAMTA2p.P888S
Missense
SNP
0.235
2--
CAND1p.A1176V
Missense
SNP
0.673
2--
CAPN1p.S622F
Missense
SNP
0.697
2--
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS2-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CARD10p.P816S
Missense
SNP
0.551
3Gain-
CARD11-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARM1-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASP6-
-
-
-
1Loss-
CASP7p.P141S
Missense
SNP
0.936
2--
CASQ1-
-
-
-
3Gain-
CASR-
-
-
-
3Gain-
CASTOR1-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CASZ1p.P982L
Missense
SNP
0.270
2--
CATSPER2-
-
-
-
0Del-
CATSPER3p.N112S
Missense
SNP
0.256
2--
CATSPERE-
-
-
-
3Gain-
CAV1-
-
-
-
3Gain-
CAV2p.X113_splice
Splice_Site
SNP
0.283
3Gain-
CBFA2T2p.P410L
Missense
SNP
0.283
2--
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLL1-
-
-
-
3Gain-
CBLN1-
-
-
-
1Loss-
CBWD1-
-
-
-
0Del-
CBX3-
-
-
-
3Gain-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBY1-
-
-
-
3Gain-
CCDC102A-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC116-
-
-
-
3Gain-
CCDC117-
-
-
-
3Gain-
CCDC126-
-
-
-
3Gain-
CCDC13p.E103K
Missense
SNP
0.168
2--
CCDC134-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC14-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC151-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC157-
-
-
-
3Gain-
CCDC158-
-
-
-
1Loss-
CCDC159-
-
-
-
3Gain-
CCDC168p.L5698F
Missense
SNP
0.320
2--
CCDC171-
-
-
-
0Del-
CCDC18-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC188-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC191-
-
-
-
3Gain-
CCDC3-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
3Gain-
CCDC39p.N53I
Missense
SNP
0.338
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC6-
-
-
-
1Loss-
CCDC62-
-
-
-
4Gain-
CCDC7-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC73p.E410K
Missense
SNP
0.333
2--
CCDC77p.A151V
Missense
SNP
0.297
2--
CCDC80p.R87C
Missense
SNP
0.485
3Gain-
CCDC85Ap.P538L
Missense
SNP
0.202
2--
CCDC9B-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNA1p.G62D
Missense
SNP
0.350
2--
CCNA2-
-
-
-
1Loss-
CCNB2-
-
-
-
3Gain-
CCNDBP1-
-
-
-
1Loss-
CCNE2-
-
-
-
3Gain-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNO-
-
-
-
3Gain-
CCNY-
-
-
-
1Loss-
CCPG1-
-
-
-
3Gain-
CCR2p.L92F
Missense
SNP
0.267
2--
CCSAP-
-
-
-
3Gain-
CCSER1-
-
-
-
1Loss-
CCT2p.P300S
Missense
SNP
0.320
2--
CCT3-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCT7p.H73Y
Missense
SNP
0.503
2--
CCT8L2-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD163p.V1059A
p.S696L
Missense
Missense
SNP
SNP
0.221
0.264
2--
CD163L1p.G711E
p.A222V
Missense
Missense
SNP
SNP
0.626
0.653
2--
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD200-
-
-
-
3Gain-
CD200R1p.E98K
Missense
SNP
0.222
3Gain-
CD200R1L-
-
-
-
3Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD248p.G219R
Missense
SNP
0.669
2--
CD274-
-
-
-
0Del-
CD276-
-
-
-
3Gain-
CD300LGp.E277K
Missense
SNP
0.321
2--
CD34-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD38p.S274F
Missense
SNP
0.459
2--
CD46-
-
-
-
3Gain-
CD47-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD69p.R134Q
Missense
SNP
0.333
2--
CD80-
-
-
-
3Gain-
CD84p.D297N
Missense
SNP
0.807
3Gain-
CD86-
-
-
-
3Gain-
CD96-
-
-
-
3Gain-
CDAN1-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC14Ap.R345*
Nonsense
SNP
0.184
3Gain-
CDC14C-
-
-
-
3Gain-
CDC20B-
-
-
-
3Gain-
CDC37-
-
-
-
3Gain-
CDC37L1-
-
-
-
0Del-
CDC42BPA-
-
-
-
3Gain-
CDC42EP1-
-
-
-
3Gain-
CDC45-
-
-
-
3Gain-
CDC7-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH10p.N133T
Missense
SNP
0.275
3Gain-
CDH11-
-
-
-
1Loss-
CDH12-
-
-
-
3Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16p.L459F
Missense
DNP
0.952
1Loss-
CDH17p.G770E
Missense
SNP
0.220
3Gain-
CDH18-
-
-
-
3Gain-
CDH22p.S605F
Missense
SNP
0.448
2--
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH6p.D294N
p.R429K
Missense
Missense
SNP
SNP
0.456
0.220
3Gain-
CDH8-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDHR2p.X256_splice
Splice_Site
SNP
0.659
2--
CDHR3-
-
-
-
3Gain-
CDK10-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK14p.H361Y
Missense
SNP
0.172
3Gain-
CDK18-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK5RAP2p.S245F
Missense
SNP
0.947
2--
CDK6-
-
-
-
4Gain-
CDKL2-
-
-
-
1Loss-
CDKN2A-
-
-
-
0Del-
CDKN2B-
-
-
-
0Del-
CDKN2D-
-
-
-
3Gain-
CDNF-
-
-
-
1Loss-
CDONp.R1115*
Nonsense
SNP
0.275
2--
CDPF1-
-
-
-
3Gain-
CDR1p.ED131DN
p.D122N
Missense
Missense
DNP
SNP
0.434
0.937
NDND-
CDS1-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDV3-
-
-
-
3Gain-
CDYL2-
-
-
-
1Loss-
CEACAM16p.G340D
Missense
SNP
0.261
2--
CECR2p.E95K
Missense
SNP
0.217
3Gain-
CELF2-
-
-
-
1Loss-
CELF6p.Q155*
Nonsense
SNP
0.203
3Gain-
CELSR1-
-
-
-
3Gain-
CELSR2p.W112*
Nonsense
DNP
0.693
2--
CEMIP-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
4Gain-
CENPM-
-
-
-
3Gain-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CEP104p.R55Q
Missense
SNP
0.525
2--
CEP112p.P218S
Missense
SNP
0.320
2--
CEP128p.R1005C
Missense
SNP
0.649
2--
CEP152-
-
-
-
1Loss-
CEP162p.E623K
Missense
SNP
0.221
2--
CEP170-
-
-
-
3Gain-
CEP170Bp.S291F
Missense
SNP
0.330
2--
CEP19-
-
-
-
3Gain-
CEP295p.S1302L
Missense
SNP
0.326
2--
CEP350p.S1256F
Missense
SNP
0.796
3Gain-
CEP41-
-
-
-
3Gain-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP97-
-
-
-
3Gain-
CER1p.K141T
Missense
SNP
0.767
0Del-
CERK-
-
-
-
3Gain-
CERS3-
-
-
-
3Gain-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN1p.D116N
Missense
SNP
0.430
2--
CETP-
-
-
-
1Loss-
CFAP100-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP161-
-
-
-
3Gain-
CFAP20-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP45-
-
-
-
3Gain-
CFAP54p.C1127G
p.K2152E
Missense
Missense
SNP
SNP
0.608
0.558
2--
CFAP57p.G639D
Missense
SNP
0.235
2--
CFAP69p.I318V
Missense
SNP
0.138
3Gain-
CFAP99p.E189K
p.E251K
Missense
Missense
SNP
SNP
0.169
0.235
2--
CFDP1-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4p.G531E
Missense
SNP
0.777
3Gain-
CFHR5-
-
-
-
3Gain-
CFIp.R339Q
Missense
SNP
0.908
1Loss-
CFTRp.P676S
Missense
SNP
0.671
3Gain-
CGGBP1-
-
-
-
3Gain-
CGNL1-
-
-
-
3Gain-
CHAC1-
-
-
-
1Loss-
CHADL-
-
-
-
3Gain-
CHAT-
-
-
-
1Loss-
CHCHD10-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD6-
-
-
-
3Gain-
CHD1p.H1557Y
Missense
SNP
0.297
2--
CHD2-
-
-
-
3Gain-
CHD7p.S2865L
Missense
SNP
0.253
3Gain-
CHD9-
-
-
-
1Loss-
CHEK2-
-
-
-
3Gain-
CHI3L1-
-
-
-
3Gain-
CHIT1p.V197L
Missense
SNP
0.152
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP2B-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHMP5-
-
-
-
0Del-
CHN2-
-
-
-
3Gain-
CHP1-
-
-
-
1Loss-
CHPF2-
-
-
-
3Gain-
CHRDp.P801L
Missense
SNP
0.459
3Gain-
CHRM2-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRM5-
-
-
-
1Loss-
CHRNA2p.E28K
Missense
SNP
0.397
2--
CHRNA3-
-
-
-
3Gain-
CHRNA5-
-
-
-
3Gain-
CHRNA7-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3p.M304I
Missense
SNP
0.290
NDND-
CHRNB4-
-
-
-
3Gain-
CHRNDp.P152L
Missense
SNP
0.217
2--
CHST12p.P365S
Missense
SNP
0.338
3Gain-
CHST13-
-
-
-
3Gain-
CHST14-
-
-
-
1Loss-
CHST2-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHSY1-
-
-
-
3Gain-
CHSY3p.H837Y
Missense
SNP
0.305
2--
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CILP-
-
-
-
3Gain-
CIP2A-
-
-
-
3Gain-
CISD1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CIZ1p.P194S
Missense
SNP
0.780
2--
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
0Del-
CKS1B-
-
-
-
3Gain-
CLCA1-
-
-
-
3Gain-
CLCA2-
-
-
-
3Gain-
CLCA4-
-
-
-
3Gain-
CLCN1-
-
-
-
3Gain-
CLCN2p.Y553C
Missense
SNP
0.471
3Gain-
CLCNKAp.E3K
Missense
SNP
0.253
2--
CLCNKBp.G23N
Missense
DNP
0.755
2--
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN14p.M18I
Missense
SNP
0.333
2--
CLDN15-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4p.V100M
Missense
SNP
0.304
3Gain-
CLDN5-
-
-
-
3Gain-
CLDN6p.L174*
p.L173F
Nonsense
Missense
SNP
SNP
0.392
0.395
2--
CLDND1-
-
-
-
3Gain-
CLEC16Ap.S53F
Missense
SNP
0.532
2--
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
3Gain-
CLN3p.P234S
Missense
SNP
0.118
2--
CLN6-
-
-
-
3Gain-
CLPX-
-
-
-
3Gain-
CLRN1-
-
-
-
3Gain-
CLSTN2-
-
-
-
3Gain-
CLTCL1-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CLVS2p.D93N
Missense
SNP
0.645
2--
CMA1p.E21V
Missense
SNP
0.552
2--
CMC2-
-
-
-
1Loss-
CMIPp.S349F
Missense
SNP
0.344
1Loss-
CMKLR1p.P313S
Missense
SNP
0.310
2--
CMSS1-
-
-
-
3Gain-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNBD1p.T143A
Missense
SNP
0.462
3Gain-
CNBP-
-
-
-
3Gain-
CNEP1R1-
-
-
-
1Loss-
CNGA2p.D555N
Missense
SNP
0.449
NDND-
CNGB1-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNN1-
-
-
-
3Gain-
CNN3-
-
-
-
3Gain-
CNOT1-
-
-
-
1Loss-
CNOT2p.T93I
Missense
SNP
0.651
2--
CNOT4-
-
-
-
3Gain-
CNOT6L-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNST-
-
-
-
3Gain-
CNTLN-
-
-
-
0Del-
CNTN2-
-
-
-
3Gain-
CNTN3-
-
-
-
3Gain-
CNTN4p.D217N
Missense
SNP
0.180
2--
CNTNAP1p.S584F
Missense
SNP
0.318
2--
CNTNAP2-
-
-
-
3Gain-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP4-
-
-
-
1Loss-
CNTNAP5p.E1290K
Missense
SNP
0.230
2--
COA1-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COASYp.F330L
Missense
SNP
0.327
2--
COBL-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG7p.E610G
Missense
SNP
0.128
2--
COG8-
-
-
-
1Loss-
COL10A1p.G206D
Missense
SNP
0.369
2--
COL11A1p.P1355S
Missense
SNP
0.208
3Gain-
COL14A1-
-
-
-
3Gain-
COL19A1p.R877*
Nonsense
SNP
0.286
2--
COL1A2-
-
-
-
4Gain-
COL21A1p.G922E
p.G533S
Missense
Missense
SNP
SNP
0.235
0.295
2--
COL22A1p.P671L
Missense
SNP
0.254
2--
COL24A1-
-
-
-
3Gain-
COL25A1-
-
-
-
1Loss-
COL26A1p.C126W
Missense
SNP
0.371
3Gain-
COL27A1p.X945_splice
Splice_Site
SNP
0.575
2--
COL28A1-
-
-
-
3Gain-
COL4A3p.P460S
p.G839R
Missense
Missense
SNP
SNP
0.496
0.187
2--
COL4A4p.W1596*
p.P917S
p.P883S
Nonsense
Missense
Missense
SNP
SNP
SNP
0.181
0.343
0.223
2--
COL5A1p.P560L
Missense
SNP
0.950
2--
COL5A3-
-
-
-
3Gain-
COL6A5p.P1717S
Missense
SNP
0.540
3Gain-
COL6A6-
-
-
-
3Gain-
COL8A1-
-
-
-
3Gain-
COL8A2p.G179R
Missense
SNP
0.327
2--
COL9A1p.P892S
Missense
SNP
0.364
2--
COLEC10-
-
-
-
3Gain-
COLGALT1p.E314K
Missense
SNP
0.481
2--
COLGALT2-
-
-
-
3Gain-
COMMD2-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD4-
-
-
-
3Gain-
COMTp.E68K
Missense
DNP
0.586
3Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COQ2-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
COQ9-
-
-
-
1Loss-
CORO2B-
-
-
-
3Gain-
COTL1-
-
-
-
1Loss-
COX10p.P382S
Missense
SNP
0.309
2--
COX17-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX5A-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
CP-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPB1-
-
-
-
3Gain-
CPEp.G178D
Missense
SNP
0.267
2--
CPEB1-
-
-
-
3Gain-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
3Gain-
CPLX3-
-
-
-
3Gain-
CPMp.R289C
Missense
SNP
0.300
2--
CPN2-
-
-
-
3Gain-
CPNE2-
-
-
-
1Loss-
CPNE3-
-
-
-
3Gain-
CPNE4p.S234F
Missense
SNP
0.248
3Gain-
CPNE7-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPT1Bp.P371F
Missense
DNP
0.502
2--
CPVL-
-
-
-
3Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP1-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1p.E1122K
Missense
SNP
0.160
3Gain-
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB3L3p.S338F
Missense
SNP
0.510
2--
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBBPp.P844S
Missense
SNP
0.142
2--
CREG1-
-
-
-
3Gain-
CRELD2-
-
-
-
3Gain-
CREM-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRHR2p.S327F
Missense
SNP
0.345
3Gain-
CRISP2p.G186R
Missense
SNP
0.370
2--
CRISPLD1-
-
-
-
3Gain-
CRISPLD2-
-
-
-
1Loss-
CRKL-
-
-
-
3Gain-
CRNNp.G431R
Missense
SNP
0.230
2--
CROT-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
3Gain-
CRYBA4-
-
-
-
3Gain-
CRYBB1-
-
-
-
3Gain-
CRYBB2p.P37S
Missense
SNP
0.548
3Gain-
CRYBB3-
-
-
-
3Gain-
CRYBG3-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CRYGS-
-
-
-
3Gain-
CRYL1-
-
-
-
3Gain-
CRYZ-
-
-
-
3Gain-
CSDC2-
-
-
-
3Gain-
CSF2RBp.K619R
Missense
SNP
0.576
3Gain-
CSGALNACT2-
-
-
-
1Loss-
CSK-
-
-
-
3Gain-
CSMD1p.G3461E
p.S1514F
p.P39S
Missense
Missense
Missense
SNP
SNP
SNP
0.448
0.255
0.316
2--
CSMD2p.P2299S
p.G2150K
p.P259S
Missense
Missense
Missense
SNP
DNP
SNP
0.701
0.202
0.245
2--
CSMD3p.R1417C
p.E610K
Missense
Missense
SNP
SNP
0.420
0.508
3Gain-
CSN2p.S23L
Missense
SNP
0.314
2--
CSNK1A1p.R244K
Missense
SNP
0.239
2--
CSNK1E-
-
-
-
3Gain-
CSNK1G1-
-
-
-
3Gain-
CSNK2A2-
-
-
-
1Loss-
CSPG4-
-
-
-
3Gain-
CSPP1-
-
-
-
3Gain-
CSRP1-
-
-
-
3Gain-
CSTA-
-
-
-
3Gain-
CSTF2T-
-
-
-
1Loss-
CT62-
-
-
-
3Gain-
CTBS-
-
-
-
3Gain-
CTCF-
-
-
-
1Loss-
CTDP1p.P312L
Missense
SNP
0.473
2--
CTDSPL2-
-
-
-
1Loss-
CTH-
-
-
-
3Gain-
CTHRC1-
-
-
-
3Gain-
CTLA4p.R193K
Missense
SNP
0.247
2--
CTNND2p.P277S
Missense
SNP
0.552
2--
CTNSp.V340A
Missense
SNP
0.637
2--
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSH-
-
-
-
3Gain-
CTTNBP2-
-
-
-
3Gain-
CTU2-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CUBN-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL2-
-
-
-
1Loss-
CUX1-
-
-
-
3Gain-
CUX2p.E86K
Missense
SNP
0.259
2--
CX3CL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL8p.E82K
Missense
SNP
0.551
2--
CXCL9-
-
-
-
1Loss-
CXCR1p.N349S
Missense
SNP
0.483
2--
CXorf66p.S151N
Missense
SNP
0.976
NDND-
CXorf67p.S262F
Missense
SNP
0.517
NDND-
CXXC4-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R3-
-
-
-
3Gain-
CYB5RLp.G172E
Missense
SNP
0.270
2--
CYBA-
-
-
-
1Loss-
CYCS-
-
-
-
3Gain-
CYLD-
-
-
-
1Loss-
CYP11A1-
-
-
-
3Gain-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP2C18p.A321T
Missense
SNP
0.383
2--
CYP2D6-
-
-
-
3Gain-
CYP2D7-
-
-
-
3Gain-
CYP2E1p.T212F
Missense
DNP
0.521
2--
CYP2J2-
-
-
-
3Gain-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7p.E382K
p.G48E
p.G31E
Missense
Missense
Missense
SNP
SNP
SNP
0.452
0.312
0.567
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP4A11p.P384S
Missense
SNP
0.235
2--
CYP4F12p.D285N
p.D374N
p.P460S
Missense
Missense
Missense
SNP
SNP
SNP
0.511
0.315
0.505
2--
CYP51A1-
-
-
-
3Gain-
CYP7B1p.R452Q
p.P96L
Missense
Missense
SNP
SNP
0.176
0.289
3Gain-
CYP8B1p.M47I
Missense
SNP
0.297
2--
CYR61-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
3Gain-
DAB2-
-
-
-
3Gain-
DACH2p.D158N
Missense
SNP
0.441
NDND-
DAGLB-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DAPK2-
-
-
-
3Gain-
DAPP1-
-
-
-
1Loss-
DARS2-
-
-
-
4Gain-
DBF4-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNL-
-
-
-
3Gain-
DBR1-
-
-
-
3Gain-
DBT-
-
-
-
3Gain-
DCAF12-
-
-
-
0Del-
DCAF13-
-
-
-
3Gain-
DCAF4L2p.R125W
Missense
SNP
0.507
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCBLD2-
-
-
-
3Gain-
DCHS2-
-
-
-
1Loss-
DCLK1p.G393E
p.R60C
Missense
Missense
SNP
SNP
0.296
0.402
2--
DCLK2-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
3Gain-
DCUN1D1-
-
-
-
3Gain-
DDAH1-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDIT4L-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX17-
-
-
-
3Gain-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX4-
-
-
-
3Gain-
DDX50p.M528V
Missense
SNP
0.546
2--
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
0Del-
DDX59-
-
-
-
3Gain-
DECR1-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DEF8p.L35F
Missense
SNP
0.960
1Loss-
DEFB110p.E50K
Missense
SNP
0.275
2--
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND4A-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
0Del-
DEPDC1-
-
-
-
3Gain-
DEPDC1B-
-
-
-
3Gain-
DEPDC5-
-
-
-
3Gain-
DEPP1-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DERL3-
-
-
-
3Gain-
DESI1-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DET1-
-
-
-
3Gain-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8p.A722V
Missense
DNP
0.169
3Gain-
DGKBp.G108C
Missense
SNP
0.338
3Gain-
DGKG-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DHFR2-
-
-
-
3Gain-
DHODH-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS9p.R41K
Missense
SNP
0.266
2--
DHTKD1-
-
-
-
1Loss-
DHX29-
-
-
-
3Gain-
DHX36-
-
-
-
3Gain-
DHX38-
-
-
-
1Loss-
DHX8p.G897R
Missense
SNP
0.343
2--
DHX9p.R781C
Missense
SNP
0.161
3Gain-
DIDO1p.S1617F
Missense
SNP
0.240
2--
DIP2C-
-
-
-
1Loss-
DIRAS3-
-
-
-
3Gain-
DIRC2-
-
-
-
3Gain-
DIS3L-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2p.L1022F
Missense
SNP
0.467
1Loss-
DISP3p.R222Q
Missense
SNP
0.246
2--
DKK1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLG1-
-
-
-
3Gain-
DLGAP3p.R653S
Missense
SNP
0.605
2--
DLL4-
-
-
-
1Loss-
DLX5-
-
-
-
3Gain-
DLX6p.P195S
p.R219C
Missense
Missense
SNP
SNP
0.181
0.252
3Gain-
DMAC1-
-
-
-
0Del-
DMC1-
-
-
-
3Gain-
DMDp.L510F
Missense
SNP
0.950
NDND-
DMP1-
-
-
-
1Loss-
DMRT1-
-
-
-
0Del-
DMRT2-
-
-
-
0Del-
DMRT3-
-
-
-
0Del-
DMRTA1-
-
-
-
0Del-
DMTF1-
-
-
-
3Gain-
DMWDp.P276S
Missense
SNP
0.216
2--
DMXL1p.G1150D
Missense
SNP
0.314
2--
DMXL2-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF4-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH1p.L3278V
Missense
SNP
0.520
2--
DNAH11-
-
-
-
3Gain-
DNAH14p.S2138F
p.P2404L
Missense
Missense
SNP
SNP
0.167
0.169
3Gain-
DNAH17p.D4080N
p.E1352K
Missense
Missense
SNP
SNP
0.595
0.309
2--
DNAH3p.E3387K
p.S1958F
Missense
Missense
SNP
SNP
0.585
0.294
2--
DNAH5p.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--
DNAH6p.G574E
p.P2312L
Missense
Missense
SNP
SNP
0.423
0.436
2--
DNAH7p.P1940S
p.D1568N
p.E483K
p.P333S
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.220
0.227
0.466
0.443
2--
DNAH9p.A1589T
p.W1679*
Missense
Nonsense
SNP
SNP
0.315
0.369
2--
DNAJA1-
-
-
-
0Del-
DNAJA2-
-
-
-
1Loss-
DNAJA4-
-
-
-
3Gain-
DNAJB11-
-
-
-
3Gain-
DNAJB14-
-
-
-
1Loss-
DNAJB4-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
3Gain-
DNAJB8-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC13-
-
-
-
3Gain-
DNAJC16p.S227F
p.H530Y
Missense
Missense
SNP
SNP
0.254
0.255
2--
DNAJC17-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC6-
-
-
-
3Gain-
DNAL4-
-
-
-
3Gain-
DNASE2B-
-
-
-
3Gain-
DNM2-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DNMT1-
-
-
-
3Gain-
DNTTIP2-
-
-
-
3Gain-
DOCK1p.L1750Q
Missense
DNP
0.949
2--
DOCK2p.X1763_splice
Splice_Site
SNP
0.653
2--
DOCK3p.X73_splice
p.P494L
Splice_Site
Missense
SNP
SNP
0.368
0.247
2--
DOCK4p.P1327S
Missense
SNP
0.157
3Gain-
DOCK5p.S1306L
Missense
SNP
0.300
2--
DOCK6p.D967N
p.G655S
Missense
Missense
SNP
SNP
0.219
0.400
3Gain-
DOCK7-
-
-
-
3Gain-
DOCK8p.S1573F
Missense
SNP
0.857
0Del-
DOK1p.P423F
Missense
DNP
0.479
2--
DOK4-
-
-
-
1Loss-
DPCR1p.P1059L
Missense
SNP
0.660
NDND-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPH5-
-
-
-
3Gain-
DPH6-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP10p.R562Q
Missense
SNP
0.472
2--
DPP4p.S764F
Missense
SNP
0.536
2--
DPP6p.G37S
Missense
SNP
0.126
3Gain-
DPP8-
-
-
-
3Gain-
DPPA2-
-
-
-
3Gain-
DPPA4p.E155K
Missense
SNP
0.242
3Gain-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L4p.S435F
Missense
SNP
0.556
3Gain-
DPYD-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL3p.G578R
Missense
SNP
0.356
2--
DPYSL5p.A199V
Missense
SNP
0.283
2--
DR1-
-
-
-
3Gain-
DRAM1p.P149L
Missense
SNP
0.174
2--
DRC7-
-
-
-
1Loss-
DRD3-
-
-
-
3Gain-
DRD5p.G37E
Missense
SNP
0.183
2--
DRG1-
-
-
-
3Gain-
DRGX-
-
-
-
1Loss-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
3Gain-
DSC2p.G263E
Missense
SNP
0.491
2--
DSC3p.E400K
Missense
SNP
0.225
2--
DSCAML1p.P315S
Missense
DNP
0.597
2--
DSCC1p.X309_splice
Splice_Site
SNP
0.477
3Gain-
DSPp.R1341C
p.Y1465*
Missense
Nonsense
DNP
SNP
0.324
0.630
2--
DSPP-
-
-
-
1Loss-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNAp.S60F
Missense
SNP
0.254
2--
DTWD1-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DTX3L-
-
-
-
3Gain-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP18-
-
-
-
3Gain-
DUSP21p.E64K
Missense
SNP
0.978
NDND-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUT-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1p.E4142K
Missense
SNP
0.293
2--
DYNLRB2-
-
-
-
1Loss-
DYRK3-
-
-
-
3Gain-
DYTNp.E75K
Missense
SNP
0.204
2--
DZIP1p.R417K
Missense
SNP
0.261
2--
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
3Gain-
E2F3p.L310P
Missense
SNP
0.614
2--
E2F4-
-
-
-
1Loss-
E2F5p.S234R
p.S235L
Missense
Missense
SNP
SNP
0.473
0.469
3Gain-
EAF2-
-
-
-
3Gain-
EBAG9-
-
-
-
3Gain-
EBF4p.G76R
Missense
SNP
0.483
2--
EBLN1-
-
-
-
1Loss-
EBLN2-
-
-
-
3Gain-
ECE2p.R248Q
Missense
SNP
0.192
3Gain-
ECHDC3-
-
-
-
1Loss-
ECSIT-
-
-
-
3Gain-
ECT2-
-
-
-
3Gain-
EDARp.H173R
Missense
SNP
0.512
2--
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDC4-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEFSEC-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB12p.E411K
Missense
SNP
0.224
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB6p.N290S
Missense
SNP
0.442
3Gain-
EFCAB7-
-
-
-
3Gain-
EFCAB9p.S22F
Missense
SNP
0.573
2--
EFCC1p.G234R
p.C429W
Missense
Missense
SNP
SNP
0.240
0.239
3Gain-
EFL1-
-
-
-
3Gain-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EGFp.X110_splice
Splice_Site
SNP
0.944
1Loss-
EGFLAM-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EHBP1p.P637L
Missense
SNP
0.226
2--
EHD4-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EID1-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2AK2p.S242F
Missense
SNP
0.247
2--
EIF2AK4-
-
-
-
1Loss-
EIF2B5-
-
-
-
3Gain-
EIF2D-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3Dp.L509F
Missense
SNP
0.562
3Gain-
EIF3E-
-
-
-
3Gain-
EIF3G-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF3J-
-
-
-
1Loss-
EIF3L-
-
-
-
3Gain-
EIF4A2p.Q202*
Nonsense
SNP
0.471
3Gain-
EIF4E-
-
-
-
1Loss-
EIF4E3-
-
-
-
3Gain-
EIF4ENIF1-
-
-
-
3Gain-
EIF4G1p.T674A
Missense
SNP
0.453
3Gain-
EIF4H-
-
-
-
3Gain-
EIF5A2-
-
-
-
3Gain-
ELAVL2-
-
-
-
0Del-
ELAVL3-
-
-
-
3Gain-
ELAVL4p.X120_splice
Splice_Site
SNP
0.706
2--
ELF3-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELFN2p.E719K
Missense
SNP
0.475
3Gain-
ELK4-
-
-
-
3Gain-
ELL3-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO3-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
ELOF1-
-
-
-
3Gain-
ELOVL6-
-
-
-
1Loss-
EMB-
-
-
-
3Gain-
EMC2-
-
-
-
3Gain-
EMC4-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMID1-
-
-
-
3Gain-
EML4p.A289V
Missense
SNP
0.273
2--
EN2-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENKD1-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOX2p.R237C
Missense
SNP
0.957
NDND-
ENPEP-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENTHD1-
-
-
-
3Gain-
ENTPD3p.E483K
Missense
SNP
0.165
2--
ENY2-
-
-
-
3Gain-
EOGT-
-
-
-
3Gain-
EP300p.P2064L
Missense
SNP
0.533
3Gain-
EP400p.S2650F
p.Q2704*
Missense
Nonsense
SNP
SNP
0.480
0.420
2--
EPAS1p.P599L
Missense
SNP
0.446
2--
EPB41L4Ap.M374I
Missense
SNP
0.575
2--
EPB42-
-
-
-
1Loss-
EPC1-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA3p.A272T
Missense
SNP
0.457
3Gain-
EPHA4p.W348*
Nonsense
SNP
0.431
2--
EPHA6p.D770N
Missense
SNP
0.505
3Gain-
EPHA7p.S287F
Missense
SNP
0.245
2--
EPHB1-
-
-
-
3Gain-
EPHB2p.R311K
Missense
SNP
0.253
2--
EPHB3-
-
-
-
3Gain-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPHX2p.E444K
Missense
SNP
0.350
2--
EPHX4-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPOR-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
EPXp.P269S
Missense
SNP
0.368
2--
EQTN-
-
-
-
0Del-
ERC2p.K776*
p.R88*
Nonsense
Nonsense
SNP
SNP
0.439
0.481
2--
ERCC6-
-
-
-
1Loss-
ERICH3p.E978K
Missense
SNP
0.781
3Gain-
ERICH5-
-
-
-
3Gain-
ERICH6-
-
-
-
3Gain-
ERICH6Bp.E125K
Missense
SNP
0.242
2--
ERMP1-
-
-
-
0Del-
ERO1B-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ESM1-
-
-
-
3Gain-
ESPL1p.P308S
Missense
SNP
0.283
2--
ESRP1-
-
-
-
3Gain-
ESRP2-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ESS2-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ESYT3-
-
-
-
3Gain-
ETFA-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETNPPL-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
ETV6p.L117F
Missense
SNP
0.317
2--
EVI5-
-
-
-
3Gain-
EVX1-
-
-
-
3Gain-
EWSR1-
-
-
-
3Gain-
EXD1p.G386R
Missense
SNP
0.942
1Loss-
EXO1-
-
-
-
3Gain-
EXOC1p.S491F
Missense
SNP
0.428
2--
EXOC3L1-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOSC10p.P67S
Missense
SNP
0.263
2--
EXOSC2p.P13L
Missense
SNP
0.281
2--
EXOSC6-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXT1-
-
-
-
3Gain-
EXTL2-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EYA4p.D404N
Missense
SNP
0.321
2--
EZH2-
-
-
-
3Gain-
F11R-
-
-
-
3Gain-
F13Bp.M403I
Missense
SNP
0.150
3Gain-
F3-
-
-
-
3Gain-
F5p.Q960*
Nonsense
SNP
0.377
3Gain-
F9p.E259K
Missense
SNP
0.459
NDND-
FA2H-
-
-
-
1Loss-
FABP12-
-
-
-
3Gain-
FABP2-
-
-
-
1Loss-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAH-
-
-
-
3Gain-
FAIM-
-
-
-
3Gain-
FAM107B-
-
-
-
1Loss-
FAM118A-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM131A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
4Gain-
FAM13A-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM151Bp.S238F
Missense
SNP
0.262
2--
FAM160A1-
-
-
-
1Loss-
FAM162A-
-
-
-
3Gain-
FAM163A-
-
-
-
3Gain-
FAM169B-
-
-
-
3Gain-
FAM170B-
-
-
-
1Loss-
FAM171A1-
-
-
-
1Loss-
FAM174B-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM179Ap.G153E
Missense
SNP
0.409
NDND-
FAM180A-
-
-
-
3Gain-
FAM185A-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM192A-
-
-
-
1Loss-
FAM19A1-
-
-
-
3Gain-
FAM19A4-
-
-
-
3Gain-
FAM19A5-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM208B-
-
-
-
1Loss-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM214A-
-
-
-
3Gain-
FAM219B-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM227Ap.P410S
Missense
SNP
0.384
3Gain-
FAM227B-
-
-
-
1Loss-
FAM240B-
-
-
-
1Loss-
FAM241A-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM43A-
-
-
-
3Gain-
FAM47Cp.G770R
p.S894F
Missense
Missense
SNP
SNP
0.504
0.486
NDND-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM69A-
-
-
-
3Gain-
FAM71A-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM81A-
-
-
-
3Gain-
FAM83A-
-
-
-
3Gain-
FAM83Fp.L442F
Missense
SNP
0.230
3Gain-
FAM84Ap.S97F
Missense
SNP
0.207
2--
FAM84Bp.V167I
Missense
SNP
0.222
2--
FAM89A-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM92B-
-
-
-
1Loss-
FAM95C-
-
-
-
1Loss-
FAM98B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCI-
-
-
-
3Gain-
FARSAp.P45S
Missense
SNP
0.500
2--
FASLG-
-
-
-
3Gain-
FASTKp.G84R
Missense
SNP
0.342
3Gain-
FAT1p.S4272F
Missense
SNP
0.182
2--
FAT3p.S239F
p.G618E
p.G1858E
Missense
Missense
Missense
SNP
SNP
SNP
0.675
0.321
0.600
2--
FBH1-
-
-
-
1Loss-
FBLN1-
-
-
-
3Gain-
FBLN5p.P70S
Missense
SNP
0.257
2--
FBN1-
-
-
-
1Loss-
FBXL13-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL22-
-
-
-
3Gain-
FBXL8-
-
-
-
1Loss-
FBXO18p.R754W
Missense
SNP
0.927
NDND-
FBXO22-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FBXO28-
-
-
-
3Gain-
FBXO31-
-
-
-
1Loss-
FBXO38p.P273S
Missense
SNP
0.334
2--
FBXO4-
-
-
-
3Gain-
FBXO40-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO7-
-
-
-
3Gain-
FBXW11p.R414C
Missense
SNP
0.246
2--
FBXW7-
-
-
-
1Loss-
FCAMRp.P312L
Missense
SNP
0.358
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR1Bp.R222K
Missense
SNP
0.232
2--
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCMRp.R187C
Missense
SNP
0.194
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FDX2-
-
-
-
3Gain-
FEM1B-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FES-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEZF1-
-
-
-
3Gain-
FEZF2-
-
-
-
3Gain-
FFAR4p.S206W
Missense
SNP
0.448
2--
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD5p.M1169I
Missense
SNP
0.468
2--
FGF10-
-
-
-
3Gain-
FGF12-
-
-
-
3Gain-
FGF2-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGFR4p.P689S
Missense
SNP
0.333
2--
FGG-
-
-
-
1Loss-
FGGY-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FH-
-
-
-
3Gain-
FHDC1-
-
-
-
1Loss-
FHL5p.K19N
Missense
SNP
0.618
2--
FHOD1-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FILIP1L-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
2-SNHG12--FLOT1
FLT4p.D1061G
Missense
SNP
0.592
2--
FLVCR1-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FMN1-
-
-
-
1Loss-
FMN2p.P1208S
Missense
SNP
0.764
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNBP1L-
-
-
-
3Gain-
FNDC3B-
-
-
-
3Gain-
FNDC7p.S76F
Missense
SNP
0.296
2--
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
0Del-
FOLH1p.X480_splice
Splice_Site
SNP
0.603
2--
FOXA3p.P250S
Missense
SNP
0.300
2--
FOXB1-
-
-
-
3Gain-
FOXC2-
-
-
-
1Loss-
FOXD3-
-
-
-
3Gain-
FOXF1-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXL1-
-
-
-
1Loss-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXM1p.Y129*
Nonsense
SNP
0.352
2--
FOXP1-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FOXRED2-
-
-
-
3Gain-
FPGT-
-
-
-
3Gain-
FPGT-TNNI3K-
-
-
-
3Gain-
FPR3p.P8L
Missense
SNP
0.391
2--
FRAS1-
-
-
-
1Loss-
FREM1-
-
-
-
0Del-
FRG2C-
-
-
-
3Gain-
FRMD4A-
-
-
-
1Loss-
FRMD4B-
-
-
-
3Gain-
FRMD5-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRRS1-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSCBp.S186L
Missense
SNP
0.322
2--
FSCN1-
-
-
-
3Gain-
FSCN2p.D285N
Missense
SNP
0.290
2--
FSCN3-
-
-
-
3Gain-
FSD2-
-
-
-
3Gain-
FSHRp.G670D
Missense
SNP
0.470
2--
FSIP1-
-
-
-
1Loss-
FSIP2p.R626K
p.E930K
Missense
Missense
SNP
SNP
0.494
0.292
2--
FST-
-
-
-
3Gain-
FSTL1-
-
-
-
3Gain-
FTO-
-
-
-
1Loss-
FUBP1-
-
-
-
3Gain-
FUK-
-
-
-
1Loss-
FURIN-
-
-
-
3Gain-
FUT3p.G275D
p.P61L
Missense
Missense
SNP
SNP
0.281
0.390
2--
FUT9p.D339N
Missense
SNP
0.702
2--
FXR1-
-
-
-
3Gain-
FXYD4-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FYTTD1-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD10p.P547L
Missense
SNP
0.264
2--
FZD6-
-
-
-
3Gain-
FZD8-
-
-
-
1Loss-
FZD9-
-
-
-
3Gain-
G0S2-
-
-
-
3Gain-
G3BP2-
-
-
-
1Loss-
GAB4-
-
-
-
3Gain-
GABARAPL2-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABRG2p.R419W
Missense
SNP
0.319
2--
GABRR3-
-
-
-
3Gain-
GAD2p.P401S
Missense
DNP
0.323
1Loss-
GADD45A-
-
-
-
3Gain-
GAGE1p.G94E
Missense
SNP
0.310
NDND-
GAL3ST1-
-
-
-
3Gain-
GAL3ST3p.P53F
Missense
DNP
0.368
2--
GAL3ST4-
-
-
-
3Gain-
GALK2-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALNT9p.S7F
Missense
DNP
0.239
2--
GALNTL5-
-
-
-
3Gain-
GALR3-
-
-
-
3Gain-
GAN-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAPT-
-
-
-
3Gain-
GAR1-
-
-
-
1Loss-
GARS-
-
-
-
3Gain-
GAS2L1-
-
-
-
3Gain-
GAS8-
-
-
-
1Loss-
GATA2-
-
-
-
3Gain-
GATA3-
-
-
-
1Loss-
GATAD1-
-
-
-
4Gain-
GATAD2B-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GATSL2p.P93L
Missense
SNP
0.434
NDND-
GBA-
-
-
-
3Gain-
GBA3p.D105N
p.H201Y
Missense
Missense
SNP
SNP
0.191
0.358
2--
GBE1p.S111L
Missense
SNP
0.479
3Gain-
GBP1-
-
-
-
3Gain-
GBP2-
-
-
-
3Gain-
GBP3-
-
-
-
3Gain-
GBP4-
-
-
-
3Gain-
GBP5-
-
-
-
3Gain-
GBP6-
-
-
-
3Gain-
GBP7-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCp.D355N
Missense
SNP
0.449
2--
GCAT-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCHFR-
-
-
-
1Loss-
GCKp.E52K
Missense
SNP
0.214
3Gain-
GCLM-
-
-
-
3Gain-
GCM1p.E386K
p.P282L
Missense
Missense
SNP
SNP
0.642
0.354
2--
GCN1-
-
-
-
3Gain-
GCNT3-
-
-
-
3Gain-
GCNT4p.S201F
Missense
SNP
0.615
2--
GCOM1-
-
-
-
3Gain-
GCSAM-
-
-
-
3Gain-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDAP1-
-
-
-
3Gain-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF6-
-
-
-
3Gain-
GDI2-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPGP1-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GFI1-
-
-
-
3Gain-
GFM1-
-
-
-
3Gain-
GFOD2-
-
-
-
1Loss-
GFRA3p.H63Y
Missense
SNP
0.355
2--
GGA1-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5p.Y573F
Missense
SNP
0.191
3Gain-
GGTLC2-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GHSR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4p.S100F
Missense
SNP
0.564
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6p.V199M
Missense
SNP
0.136
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIMD1-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GIPC2-
-
-
-
3Gain-
GJA10p.D132N
Missense
SNP
0.379
2--
GJA3-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
3Gain-
GLDC-
-
-
-
0Del-
GLDN-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI2p.S388F
p.D856N
p.P1547L
Missense
Missense
Missense
SNP
SNP
SNP
0.247
0.201
0.454
2--
GLI3-
-
-
-
3Gain-
GLIS3-
-
-
-
0Del-
GLMN-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLOD4p.S31F
Missense
SNP
0.583
2--
GLRBp.W139*
Nonsense
SNP
0.478
2--
GLRX2-
-
-
-
3Gain-
GLSp.S482F
Missense
SNP
0.468
2--
GLT8D1-
-
-
-
3Gain-
GLUL-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GMPS-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAO1-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNB4-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNG11-
-
-
-
4Gain-
GNG12-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNG5-
-
-
-
3Gain-
GNGT1-
-
-
-
4Gain-
GNL3-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GOLGA4p.P101S
Missense
SNP
0.225
2--
GOLGA6B-
-
-
-
3Gain-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGB1p.D21G
Missense
SNP
0.458
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLPH3-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GOT2-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GP2p.R112Q
Missense
SNP
0.176
2--
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPAT3-
-
-
-
1Loss-
GPATCH2-
-
-
-
3Gain-
GPATCH3p.D291N
Missense
SNP
0.210
2--
GPATCH4-
-
-
-
3Gain-
GPBP1-
-
-
-
3Gain-
GPC2-
-
-
-
3Gain-
GPC5p.G506R
Missense
SNP
0.358
2--
GPER1-
-
-
-
3Gain-
GPLD1p.M126I
Missense
SNP
0.356
2--
GPM6Ap.M77I
Missense
SNP
0.470
2--
GPNMB-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR141p.G156E
p.E267K
Missense
Missense
SNP
SNP
0.451
0.172
3Gain-
GPR146-
-
-
-
3Gain-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR160-
-
-
-
3Gain-
GPR161-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR179p.G1765E
Missense
SNP
0.296
2--
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR27-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR52p.V208D
Missense
SNP
0.378
4Gain-
GPR65p.G50E
Missense
SNP
0.298
2--
GPR83p.A325V
Missense
SNP
0.638
2--
GPR85-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GPR88-
-
-
-
3Gain-
GPRASP2p.S485F
Missense
SNP
0.977
NDND-
GPRC6Ap.T710N
Missense
SNP
0.317
2--
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPTp.E305K
Missense
DNP
0.513
2--
GPT2-
-
-
-
1Loss-
GPX8-
-
-
-
3Gain-
GRAMD1C-
-
-
-
3Gain-
GRAMD2A-
-
-
-
3Gain-
GRAMD4p.S28L
p.M205I
Missense
Missense
SNP
SNP
0.233
0.371
3Gain-
GRAP2-
-
-
-
3Gain-
GRB10-
-
-
-
3Gain-
GREM1-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRIA4p.W16*
Nonsense
SNP
0.255
2--
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK2p.P338S
p.E808K
Missense
Missense
SNP
SNP
0.308
0.288
2--
GRIN2Cp.E329K
Missense
SNP
0.333
2--
GRIN3Ap.P882L
p.Y432N
p.E340K
Missense
Missense
Missense
SNP
SNP
SNP
0.953
0.966
0.573
2--
GRIN3Bp.W513*
Nonsense
SNP
0.508
2--
GRIP2p.T311I
Missense
SNP
0.432
2--
GRK3-
-
-
-
3Gain-
GRK7-
-
-
-
3Gain-
GRM3-
-
-
-
3Gain-
GRM4p.R61K
Missense
SNP
0.325
2--
GRM5p.P83S
Missense
SNP
0.232
2--
GRM8p.P719L
Missense
SNP
0.498
3Gain-
GRPRp.A153V
Missense
SNP
0.473
NDND-
GSAP-
-
-
-
3Gain-
GSC2-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSK3B-
-
-
-
3Gain-
GSTA1p.D42E
Missense
SNP
0.282
2--
GSTCD-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTM3p.P206L
Missense
SNP
0.184
2--
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GTDC1p.P270S
Missense
SNP
0.220
2--
GTF2A2-
-
-
-
3Gain-
GTF2B-
-
-
-
3Gain-
GTF2E1-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTPBP1-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GTPBP4-
-
-
-
1Loss-
GTPBP8p.L20P
Missense
SNP
0.475
3Gain-
GTSE1p.P280S
Missense
SNP
0.466
3Gain-
GUCA1C-
-
-
-
3Gain-
GUCD1-
-
-
-
3Gain-
GUCY1B3p.L38F
Missense
SNP
0.376
NDND-
GUCY2Cp.D179N
Missense
SNP
0.269
2--
GUK1-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GXYLT2-
-
-
-
3Gain-
GYG1-
-
-
-
3Gain-
GZMA-
-
-
-
3Gain-
GZMK-
-
-
-
3Gain-
H1F0-
-
-
-
3Gain-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H2AFZ-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
0Del-
HADH-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAPLN3-
-
-
-
3Gain-
HAS1p.A47V
Missense
SNP
0.124
2--
HAS2-
-
-
-
3Gain-
HAS3-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS6-
-
-
-
0Del-
HAUS8p.P248L
Missense
SNP
0.416
2--
HAX1-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HCFC1p.R847C
p.L846P
Missense
Missense
SNP
SNP
0.934
0.950
NDND-
HCKp.E221K
Missense
SNP
0.414
2--
HCLS1-
-
-
-
3Gain-
HCN1-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
3Gain-
HDAC10-
-
-
-
3Gain-
HDAC7p.P401F
Missense
DNP
0.341
2--
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
1Loss-
HDDC3-
-
-
-
3Gain-
HDGF-
-
-
-
3Gain-
HDGFL3-
-
-
-
3Gain-
HDHD5-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR3p.A275V
Missense
SNP
0.897
1Loss-
HECW1-
-
-
-
3Gain-
HEG1-
-
-
-
3Gain-
HELQ-
-
-
-
1Loss-
HELZp.D709E
Missense
SNP
0.647
2--
HEPACAMp.T78I
Missense
SNP
0.629
2--
HEPACAM2-
-
-
-
4Gain-
HERC1p.P3669S
Missense
SNP
0.242
3Gain-
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HES1-
-
-
-
3Gain-
HEXA-
-
-
-
3Gain-
HEY1-
-
-
-
3Gain-
HFM1p.P1251S
Missense
SNP
0.598
3Gain-
HGD-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HHLA2-
-
-
-
3Gain-
HHLA3-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIC2-
-
-
-
3Gain-
HIF1ANp.A329V
Missense
SNP
0.962
2--
HIGD2B-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HINFPp.S139F
Missense
SNP
0.653
2--
HIP1-
-
-
-
3Gain-
HIP1Rp.E795K
Missense
SNP
0.213
4Gain-
HIPK2-
-
-
-
3Gain-
HIRA-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP2p.S1328F
Missense
SNP
0.588
2--
HLCSp.P132S
Missense
SNP
0.263
2--
HLTF-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMCN1p.T2545I
Missense
SNP
0.121
3Gain-
HMG20A-
-
-
-
3Gain-
HMGCRp.K401N
Missense
SNP
0.416
2--
HMGCS1-
-
-
-
3Gain-
HMGXB4p.P379S
Missense
SNP
0.211
3Gain-
HMOX1-
-
-
-
3Gain-
HNF4Gp.E360K
Missense
SNP
0.451
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HOMER2-
-
-
-
3Gain-
HOOK1-
-
-
-
3Gain-
HORMAD2-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB1p.P64S
Missense
SNP
0.595
2--
HP-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPRT1p.D13E
Missense
SNP
1.000
NDND-
HPS3-
-
-
-
3Gain-
HPS4-
-
-
-
3Gain-
HPSE-
-
-
-
1Loss-
HRASLS-
-
-
-
3Gain-
HRCp.E188K
Missense
SNP
0.503
2--
HRG-
-
-
-
3Gain-
HRH3p.E395K
Missense
SNP
0.444
2--
HS2ST1-
-
-
-
3Gain-
HS6ST2p.S109F
Missense
DNP
0.492
NDND-
HSBP1-
-
-
-
1Loss-
HSCB-
-
-
-
3Gain-
HSD11B1-
-
-
-
3Gain-
HSD11B2-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSH2Dp.P289L
Missense
SNP
0.433
2--
HSPA12Ap.S195F
Missense
SNP
0.570
2--
HSPA14-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HSPB1-
-
-
-
3Gain-
HSPB3-
-
-
-
3Gain-
HSPBAP1-
-
-
-
3Gain-
HTR1F-
-
-
-
3Gain-
HTR3Cp.G368R
Missense
SNP
0.280
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3Ep.S12F
p.G384E
Missense
Missense
SNP
SNP
0.186
0.552
3Gain-
HTR4p.T385P
Missense
SNP
0.294
2--
HTR5Ap.T274R
Missense
SNP
0.349
3Gain-
HTRA1p.S441F
Missense
SNP
0.964
2--
HUS1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDINp.R375Q
Missense
SNP
0.890
1Loss-
HYKK-
-
-
-
3Gain-
HYPK-
-
-
-
1Loss-
IAPPp.S52F
Missense
SNP
0.228
2--
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBSP-
-
-
-
1Loss-
ICA1p.P9S
Missense
SNP
0.305
3Gain-
ICAM1-
-
-
-
3Gain-
ICAM3-
-
-
-
3Gain-
ICAM4-
-
-
-
3Gain-
ICAM5-
-
-
-
3Gain-
ICE1p.S949F
Missense
SNP
0.174
2--
ICE2-
-
-
-
3Gain-
IDH2-
-
-
-
3Gain-
IDH3A-
-
-
-
3Gain-
IDH3Bp.P261L
Missense
SNP
0.225
2--
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI44-
-
-
-
3Gain-
IFI44L-
-
-
-
3Gain-
IFIT3p.H425Y
Missense
SNP
0.561
2--
IFNA1-
-
-
-
0Del-
IFNA10-
-
-
-
0Del-
IFNA13-
-
-
-
0Del-
IFNA14-
-
-
-
0Del-
IFNA16-
-
-
-
0Del-
IFNA17-
-
-
-
0Del-
IFNA2-
-
-
-
0Del-
IFNA21-
-
-
-
0Del-
IFNA4-
-
-
-
0Del-
IFNA5-
-
-
-
0Del-
IFNA6-
-
-
-
0Del-
IFNA7-
-
-
-
0Del-
IFNA8-
-
-
-
0Del-
IFNB1-
-
-
-
0Del-
IFNE-
-
-
-
0Del-
IFNK-
-
-
-
0Del-
IFNW1-
-
-
-
0Del-
IFRD1-
-
-
-
3Gain-
IFT122-
-
-
-
3Gain-
IFT22p.E98K
Missense
SNP
0.617
3Gain-
IFT27-
-
-
-
3Gain-
IFT57-
-
-
-
3Gain-
IFT74-
-
-
-
0Del-
IFT80-
-
-
-
3Gain-
IFT88-
-
-
-
3Gain-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1R-
-
-
-
3Gain-
IGF2BP1p.R452C
Missense
SNP
0.546
2--
IGF2BP2-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFN1-
-
-
-
3Gain-
IGHA1p.A133T
Missense
SNP
0.629
NDND-
IGHV3-11p.M102L
Missense
SNP
0.262
NDND-
IGLL1-
-
-
-
3Gain-
IGLL5-
-
-
-
3Gain-
IGLV10-54-
-
-
-
3Gain-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9p.V639I
Missense
SNP
0.803
3Gain-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL12A-
-
-
-
3Gain-
IL12Bp.E221K
Missense
SNP
0.308
2--
IL12RB2-
-
-
-
3Gain-
IL15RA-
-
-
-
1Loss-
IL16-
-
-
-
3Gain-
IL17C-
-
-
-
1Loss-
IL17D-
-
-
-
3Gain-
IL17RA-
-
-
-
3Gain-
IL17RCp.H160Y
Missense
SNP
0.451
2--
IL17REL-
-
-
-
3Gain-
IL19-
-
-
-
3Gain-
IL1F10p.S78F
Missense
SNP
0.429
2--
IL1RAP-
-
-
-
3Gain-
IL2-
-
-
-
1Loss-
IL20-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL21-
-
-
-
1Loss-
IL23R-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL25p.V27I
Missense
SNP
0.589
2--
IL2RA-
-
-
-
1Loss-
IL2RB-
-
-
-
3Gain-
IL31RA-
-
-
-
3Gain-
IL33-
-
-
-
0Del-
IL34-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
3Gain-
IL7-
-
-
-
3Gain-
ILDR1p.S478F
Missense
SNP
0.506
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILF3-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMP3-
-
-
-
3Gain-
IMPA1-
-
-
-
3Gain-
IMPDH1p.S537F
Missense
SNP
0.562
3Gain-
IMPG2-
-
-
-
3Gain-
INAVA-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80-
-
-
-
1Loss-
INPP5Dp.S263P
Missense
SNP
0.200
2--
INPP5J-
-
-
-
3Gain-
INSIG1-
-
-
-
3Gain-
INSL4-
-
-
-
0Del-
INSL5-
-
-
-
3Gain-
INSL6-
-
-
-
0Del-
INSRRp.E1030K
Missense
SNP
0.772
3Gain-
INSYN1-
-
-
-
3Gain-
INTS1-
-
-
-
3Gain-
INTS12-
-
-
-
1Loss-
INTS14-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS4p.P107L
Missense
SNP
0.600
2--
INTS7-
-
-
-
3Gain-
INTS8-
-
-
-
3Gain-
IPMK-
-
-
-
1Loss-
IPO8p.S357F
Missense
SNP
0.104
2--
IPO9-
-
-
-
3Gain-
IPPp.G472E
Missense
SNP
0.279
2--
IQCB1-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCH-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK3p.H166Y
Missense
SNP
0.578
2--
IREB2-
-
-
-
3Gain-
IRF2BP2-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF8-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISG20-
-
-
-
3Gain-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
3Gain-
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
3Gain-
ISLR2-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ISX-
-
-
-
3Gain-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITGA1-
-
-
-
3Gain-
ITGA11-
-
-
-
3Gain-
ITGA2-
-
-
-
3Gain-
ITGA2Bp.X1021_splice
Splice_Site
SNP
0.274
2--
ITGA4p.R261W
p.G539E
Missense
Missense
SNP
SNP
0.490
0.399
2--
ITGA5p.S785Y
Missense
SNP
0.647
2--
ITGA7p.S442N
Missense
SNP
0.628
2--
ITGA8-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB3BP-
-
-
-
3Gain-
ITGB5-
-
-
-
3Gain-
ITGB6p.G26V
Missense
SNP
0.454
2--
ITGB8-
-
-
-
3Gain-
ITGBL1p.G203E
Missense
SNP
0.254
2--
ITIH2p.L13F
Missense
SNP
0.339
1Loss-
ITIH5-
-
-
-
1Loss-
ITKp.G452R
Missense
SNP
0.309
2--
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPKA-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
ITSN2p.P151L
Missense
SNP
0.286
2--
IVD-
-
-
-
1Loss-
IVNS1ABP-
-
-
-
3Gain-
IZUMO3-
-
-
-
0Del-
JADE2p.V330G
Missense
SNP
0.313
2--
JAK1-
-
-
-
3Gain-
JAK2-
-
-
-
0Del-
JARID2p.P687L
p.P766L
Missense
Missense
SNP
SNP
0.638
0.337
2--
JAZF1-
-
-
-
3Gain-
JCAD-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JOSD1-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUN-
-
-
-
3Gain-
KALRNp.P1649S
Missense
SNP
0.475
3Gain-
KANK1-
-
-
-
0Del-
KANK2-
-
-
-
3Gain-
KANK4-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KAT14p.Q275E
Missense
SNP
0.455
2--
KAT6Bp.S1867F
Missense
SNP
0.596
2--
KATNB1-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KAZNp.V391G
Missense
SNP
0.658
2--
KBTBD12-
-
-
-
3Gain-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD8-
-
-
-
3Gain-
KCNA1p.S390F
Missense
SNP
0.356
2--
KCNA6p.G435E
Missense
SNP
0.326
2--
KCNA7p.P366L
Missense
SNP
0.499
2--
KCNAB1-
-
-
-
3Gain-
KCNB1p.G379E
p.E130K
Missense
Missense
SNP
SNP
0.190
0.269
2--
KCNB2-
-
-
-
3Gain-
KCNC3p.V374M
Missense
SNP
0.445
2--
KCND1p.E142K
Missense
SNP
0.472
NDND-
KCND2-
-
-
-
3Gain-
KCND3p.E72K
Missense
DNP
0.633
2--
KCNF1p.E323K
Missense
SNP
0.535
2--
KCNG4-
-
-
-
1Loss-
KCNH1p.S94F
Missense
SNP
0.772
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH5p.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--
KCNH8p.S1031L
Missense
SNP
0.237
2--
KCNJ10-
-
-
-
3Gain-
KCNJ4-
-
-
-
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNMB2p.M206I
Missense
SNP
0.509
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNN2p.P525S
Missense
SNP
0.322
2--
KCNN3-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
0Del-
KCP-
-
-
-
3Gain-
KCTD17-
-
-
-
3Gain-
KCTD19-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
3Gain-
KDM4C-
-
-
-
0Del-
KDM5B-
-
-
-
3Gain-
KDM7A-
-
-
-
3Gain-
KDRp.S1100F
p.R1032Q
Missense
Missense
SNP
SNP
0.459
0.215
2--
KEAP1-
-
-
-
3Gain-
KELp.S318F
p.S277F
Missense
Missense
SNP
SNP
0.412
0.148
3Gain-
KHDC1Lp.D92N
Missense
SNP
0.225
2--
KHDC4-
-
-
-
3Gain-
KHDRBS2p.E93K
Missense
SNP
0.331
2--
KIAA0040-
-
-
-
3Gain-
KIAA0319p.R887Q
Missense
SNP
0.186
2--
KIAA0355p.R874Q
Missense
SNP
0.497
2--
KIAA0408p.S469L
Missense
SNP
0.249
2--
KIAA0513p.H316Y
Missense
SNP
0.446
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0895L-
-
-
-
1Loss-
KIAA0930-
-
-
-
3Gain-
KIAA1024-
-
-
-
3Gain-
KIAA1107p.L872K
Missense
DNP
0.652
NDND-
KIAA1109-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1549p.A891V
Missense
SNP
0.351
3Gain-
KIAA1551p.E842K
p.P917S
Missense
Missense
SNP
SNP
0.301
0.390
2--
KIAA1614-
-
-
-
3Gain-
KIAA1671-
-
-
-
3Gain-
KIAA2022p.P683S
p.E518K
Missense
Missense
SNP
SNP
0.530
0.964
NDND-
KIAA2026-
-
-
-
0Del-
KIF14-
-
-
-
3Gain-
KIF15p.S327F
Missense
SNP
0.440
2--
KIF17p.E459K
Missense
SNP
0.490
2--
KIF21B-
-
-
-
3Gain-
KIF23-
-
-
-
3Gain-
KIF24p.E822K
Missense
SNP
0.836
0Del-
KIF26B-
-
-
-
3Gain-
KIF5B-
-
-
-
1Loss-
KIF5Cp.E518K
Missense
SNP
0.243
2--
KIF6p.R242Q
Missense
SNP
0.224
2--
KIF7-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIFC3-
-
-
-
1Loss-
KIN-
-
-
-
1Loss-
KIR3DL1p.S346L
Missense
SNP
0.226
2--
KIR3DL3p.K393*
Nonsense
SNP
0.490
2--
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF13-
-
-
-
1Loss-
KLF14-
-
-
-
3Gain-
KLF15-
-
-
-
3Gain-
KLF5p.LP343FS
Missense
DNP
0.536
2--
KLF6-
-
-
-
1Loss-
KLHDC10-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC7Ap.E635K
Missense
SNP
0.688
2--
KLHDC7Bp.G234R
Missense
SNP
0.192
2--
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL18p.P321S
Missense
SNP
0.461
2--
KLHL20-
-
-
-
4Gain-
KLHL22-
-
-
-
3Gain-
KLHL24-
-
-
-
3Gain-
KLHL25-
-
-
-
3Gain-
KLHL36-
-
-
-
1Loss-
KLHL40p.A207V
Missense
SNP
0.250
2--
KLHL6-
-
-
-
3Gain-
KLHL7-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
0Del-
KLK7p.P232S
Missense
SNP
0.508
2--
KLKB1p.S151L
Missense
SNP
0.157
2--
KLRG1p.P179S
Missense
SNP
0.661
2--
KLRG2-
-
-
-
3Gain-
KMOp.M317I
Missense
SNP
0.477
3Gain-
KMT2Bp.P171S
Missense
SNP
0.486
2--
KMT2C-
-
-
-
3Gain-
KMT2Dp.T2332I
Missense
SNP
0.637
2--
KMT2Ep.E1388K
Missense
SNP
0.605
3Gain-
KMT5Ap.G28N
Missense
DNP
0.750
2--
KNG1-
-
-
-
3Gain-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KPNA1-
-
-
-
3Gain-
KPNA4-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KREMEN1-
-
-
-
3Gain-
KRI1-
-
-
-
3Gain-
KRIT1-
-
-
-
4Gain-
KRT12p.R158*
Nonsense
SNP
0.294
2--
KRT2p.G571E
Missense
SNP
0.270
2--
KRT28p.H135Y
Missense
SNP
0.565
2--
KRT33Bp.E185K
Missense
SNP
0.721
2--
KRT6Cp.D323N
Missense
SNP
0.404
2--
KRT76p.G154R
Missense
SNP
0.603
2--
KRT84p.E294K
Missense
SNP
0.240
2--
KRTAP1-4p.G48D
Missense
SNP
0.320
NDND-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP12-4-
-
-
-
1Loss-
KRTAP4-6p.S4F
Missense
SNP
0.223
2--
KRTAP6-2p.G45D
Missense
SNP
0.319
2--
KRTCAP2-
-
-
-
3Gain-
KY-
-
-
-
3Gain-
KYAT3-
-
-
-
3Gain-
L1TD1-
-
-
-
3Gain-
L3MBTL2-
-
-
-
3Gain-
LACTB-
-
-
-
3Gain-
LACTB2p.I274K
Missense
SNP
0.252
3Gain-
LAD1p.S375F
p.D43N
Missense
Missense
SNP
SNP
0.805
0.339
3Gain-
LAMA2p.R1319*
Nonsense
SNP
0.277
2--
LAMA5p.G1723E
Missense
SNP
0.494
2--
LAMB1-
-
-
-
3Gain-
LAMB3-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP3-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LARGE1-
-
-
-
3Gain-
LARGE2p.V517I
Missense
SNP
0.385
2--
LARP4B-
-
-
-
1Loss-
LARP6-
-
-
-
3Gain-
LARP7-
-
-
-
1Loss-
LAT2-
-
-
-
3Gain-
LATS2p.S274F
Missense
SNP
0.398
3Gain-
LAX1-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LCAT-
-
-
-
1Loss-
LCE1Cp.P39S
Missense
SNP
0.248
2--
LCE5Ap.S41L
Missense
SNP
0.673
2--
LCMT2-
-
-
-
1Loss-
LCORp.I238N
p.A1200T
Missense
Missense
SNP
SNP
0.370
0.397
2--
LCTL-
-
-
-
3Gain-
LDHAL6B-
-
-
-
3Gain-
LDHD-
-
-
-
1Loss-
LDLR-
-
-
-
3Gain-
LEF1-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LEKR1-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LENG8p.T332I
Missense
SNP
0.636
2--
LEO1-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LEPR-
-
-
-
3Gain-
LEPROT-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
3Gain-
LGALS2-
-
-
-
3Gain-
LGALS8-
-
-
-
3Gain-
LGR6p.S163F
Missense
SNP
0.110
3Gain-
LHFPL3-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX8-
-
-
-
3Gain-
LHX9p.R271Q
Missense
SNP
0.235
3Gain-
LIF-
-
-
-
3Gain-
LIFR-
-
-
-
3Gain-
LILRA4p.P181S
Missense
SNP
0.363
2--
LILRB1p.D260N
Missense
SNP
0.251
2--
LIMK1-
-
-
-
3Gain-
LIMK2-
-
-
-
3Gain-
LIMS1p.P108S
Missense
SNP
0.265
2--
LIN54-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINGO1-
-
-
-
3Gain-
LINGO2-
-
-
-
0Del-
LINS1-
-
-
-
3Gain-
LIPC-
-
-
-
3Gain-
LIPFp.D159N
Missense
SNP
0.395
2--
LIPH-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LMAN1L-
-
-
-
3Gain-
LMAN2Lp.S279F
Missense
SNP
0.481
2--
LMBR1-
-
-
-
3Gain-
LMLN-
-
-
-
3Gain-
LMNAp.E203K
Missense
DNP
0.860
3Gain-
LMO4-
-
-
-
3Gain-
LMO7DNp.W9*
Nonsense
SNP
0.521
NDND-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMOD3-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LNP1-
-
-
-
3Gain-
LONP2-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOXHD1p.D531N
Missense
SNP
0.212
2--
LOXL1-
-
-
-
3Gain-
LPAR3-
-
-
-
3Gain-
LPCAT2-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH3-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRFN5p.S394F
Missense
SNP
0.369
2--
LRGUK-
-
-
-
3Gain-
LRIG1-
-
-
-
3Gain-
LRIT3-
-
-
-
1Loss-
LRP1p.L2656F
p.H4116Y
Missense
Missense
SNP
SNP
0.321
0.616
2--
LRP12-
-
-
-
3Gain-
LRP1Bp.W4001*
p.R2495Q
p.S1102F
Nonsense
Missense
Missense
SNP
SNP
SNP
0.212
0.434
0.303
2--
LRP2p.W4295*
p.R1206C
Nonsense
Missense
SNP
SNP
0.267
0.272
2--
LRP5L-
-
-
-
3Gain-
LRRC15p.N249T
Missense
SNP
0.268
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC19-
-
-
-
0Del-
LRRC28-
-
-
-
3Gain-
LRRC29-
-
-
-
1Loss-
LRRC30p.P87S
Missense
SNP
0.411
2--
LRRC31p.D294N
Missense
SNP
0.529
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC36-
-
-
-
1Loss-
LRRC37A3p.S146L
Missense
SNP
0.810
2--
LRRC39-
-
-
-
3Gain-
LRRC4-
-
-
-
3Gain-
LRRC40-
-
-
-
3Gain-
LRRC49-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC53p.D291N
Missense
SNP
0.734
3Gain-
LRRC57-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC61p.A78V
Missense
DNP
0.361
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC7-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC74B-
-
-
-
3Gain-
LRRC75B-
-
-
-
3Gain-
LRRC8B-
-
-
-
3Gain-
LRRC8C-
-
-
-
3Gain-
LRRC8D-
-
-
-
3Gain-
LRRCC1p.G159E
Missense
SNP
0.209
3Gain-
LRRD1-
-
-
-
3Gain-
LRRIQ3p.S217L
Missense
SNP
0.283
3Gain-
LRRIQ4p.T189I
Missense
SNP
0.496
3Gain-
LRRK1-
-
-
-
3Gain-
LRRN1p.E128K
Missense
SNP
0.212
2--
LRRN2p.G658S
Missense
SNP
0.790
3Gain-
LRRN3-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSAMP-
-
-
-
3Gain-
LSG1p.K450E
Missense
SNP
0.527
3Gain-
LSM12p.P187L
Missense
SNP
0.630
2--
LSM14Ap.R42*
Nonsense
SNP
0.258
2--
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LTBP4p.P1491L
Missense
SNP
0.434
2--
LTKp.S789*
Nonsense
SNP
0.947
1Loss-
LUC7L2-
-
-
-
3Gain-
LURAP1L-
-
-
-
0Del-
LUZP2p.M206I
Missense
SNP
0.258
2--
LUZP4p.G134E
Missense
SNP
0.934
NDND-
LUZP6-
-
-
-
3Gain-
LXN-
-
-
-
3Gain-
LY75p.E1402K
p.V474T
Missense
Missense
SNP
DNP
0.420
0.385
2--
LY9-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD2-
-
-
-
1Loss-
LYSMD4-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LZTR1p.R630L
Missense
SNP
0.481
3Gain-
MAATS1-
-
-
-
3Gain-
MAB21L2-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAD2L1-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAFF-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGp.A6T
Missense
SNP
0.191
2--
MAGEF1-
-
-
-
3Gain-
MAGI1p.E354K
Missense
SNP
0.420
3Gain-
MAGI2-
-
-
-
3Gain-
MAL2-
-
-
-
3Gain-
MALRD1-
-
-
-
1Loss-
MALSU1-
-
-
-
3Gain-
MAML1p.V111D
Missense
SNP
0.643
2--
MAMLD1p.S938L
Missense
SNP
0.514
NDND-
MAN2A2-
-
-
-
3Gain-
MAN2B1p.A656V
p.T243I
Missense
Missense
DNP
SNP
0.449
0.143
2--
MAN2C1-
-
-
-
3Gain-
MANBA-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1Ap.A507V
Missense
SNP
0.871
1Loss-
MAP1Bp.E1392K
Missense
SNP
0.297
2--
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP2K1-
-
-
-
3Gain-
MAP2K5-
-
-
-
3Gain-
MAP3K1-
-
-
-
3Gain-
MAP3K13-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K5p.F897Y
Missense
SNP
0.668
2--
MAP3K8-
-
-
-
1Loss-
MAP4p.S749F
Missense
SNP
0.487
2--
MAP6D1-
-
-
-
3Gain-
MAP7D1p.P492L
Missense
SNP
0.579
2--
MAP9-
-
-
-
1Loss-
MAPK1-
-
-
-
3Gain-
MAPK10-
-
-
-
1Loss-
MAPK11p.G31D
Missense
SNP
0.168
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK3p.H327Q
Missense
SNP
0.175
2--
MAPK6-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKBP1-
-
-
-
1Loss-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH10p.S63F
Missense
SNP
0.632
2--
MARCH8-
-
-
-
1Loss-
MARCOp.G403E
Missense
SNP
0.386
2--
MARK1-
-
-
-
3Gain-
MARVELD3-
-
-
-
1Loss-
MASP1-
-
-
-
3Gain-
MASTL-
-
-
-
1Loss-
MATN2-
-
-
-
3Gain-
MAZp.X147_splice
Splice_Site
SNP
0.486
2--
MB-
-
-
-
3Gain-
MB21D2-
-
-
-
3Gain-
MBD4-
-
-
-
3Gain-
MBL2-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBNL1-
-
-
-
3Gain-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MCAT-
-
-
-
3Gain-
MCCC1-
-
-
-
3Gain-
MCF2p.P454S
Missense
SNP
0.510
NDND-
MCF2L2-
-
-
-
3Gain-
MCHR1-
-
-
-
3Gain-
MCIDAS-
-
-
-
3Gain-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
3Gain-
MCM5-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCOLN2-
-
-
-
3Gain-
MCOLN3p.H232N
p.R231S
Missense
Missense
SNP
SNP
0.730
0.737
3Gain-
MCTP2-
-
-
-
3Gain-
MCUB-
-
-
-
1Loss-
MDFIC-
-
-
-
3Gain-
MDGA1p.D903Y
Missense
SNP
0.406
2--
MDGA2p.R207*
Nonsense
SNP
0.696
2--
MDH2-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
ME1p.R254C
Missense
SNP
0.500
2--
ME3p.Y243N
Missense
SNP
0.589
2--
MECOMp.E722K
Missense
SNP
0.396
3Gain-
MED12Lp.P2040S
Missense
SNP
0.481
3Gain-
MED13p.P634L
Missense
SNP
0.296
2--
MED15-
-
-
-
3Gain-
MED30-
-
-
-
3Gain-
MEF2A-
-
-
-
3Gain-
MEF2D-
-
-
-
3Gain-
MEGF10p.G426E
Missense
SNP
0.383
2--
MEGF11-
-
-
-
3Gain-
MEI1-
-
-
-
3Gain-
MEIG1-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MELTFp.S268F
Missense
SNP
0.484
3Gain-
MEOX1p.P97L
Missense
SNP
0.287
2--
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEPE-
-
-
-
1Loss-
MERTKp.F115L
Missense
SNP
0.269
2--
MESD-
-
-
-
3Gain-
MESP1-
-
-
-
3Gain-
MESP2-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL14-
-
-
-
1Loss-
METTL18-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL4p.P320S
Missense
SNP
0.204
2--
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
3Gain-
MFAP1-
-
-
-
1Loss-
MFAP5p.E133K
Missense
SNP
0.552
2--
MFGE8-
-
-
-
3Gain-
MFN1-
-
-
-
3Gain-
MFNG-
-
-
-
3Gain-
MFRPp.E544K
Missense
SNP
0.632
2--
MFSD1-
-
-
-
3Gain-
MFSD14A-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MGA-
-
-
-
1Loss-
MGAMp.K134T
p.G294R
p.P1329S
p.P1514S
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.155
0.652
0.329
0.393
3Gain-
MGAM2p.S560F
p.E1092K
p.G1667R
Missense
Missense
Missense
SNP
SNP
SNP
0.143
0.289
0.398
3Gain-
MGAT3-
-
-
-
3Gain-
MGLL-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MICAL3-
-
-
-
3Gain-
MICALL1-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MIEF1-
-
-
-
3Gain-
MIER1-
-
-
-
3Gain-
MIER3-
-
-
-
3Gain-
MIF-
-
-
-
3Gain-
MIGA1-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MINDY4-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MITF-
-
-
-
3Gain-
MIXL1-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN3p.P64S
Missense
SNP
0.235
2--
MKX-
-
-
-
1Loss-
MLANA-
-
-
-
0Del-
MLC1-
-
-
-
3Gain-
MLF1-
-
-
-
3Gain-
MLKL-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLLT3-
-
-
-
0Del-
MLXIPL-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MME-
-
-
-
3Gain-
MMP11-
-
-
-
3Gain-
MMP15-
-
-
-
1Loss-
MMP16-
-
-
-
3Gain-
MMP2-
-
-
-
1Loss-
MMP24p.D318N
Missense
SNP
0.462
2--
MMRN1-
-
-
-
1Loss-
MN1-
-
-
-
3Gain-
MND1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
3Gain-
MNX1-
-
-
-
3Gain-
MOB2p.P15L
Missense
SNP
0.200
2--
MOB3B-
-
-
-
0Del-
MOCOSp.L328R
Missense
SNP
0.463
2--
MOCS1p.D340N
Missense
SNP
0.711
2--
MOCS2-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MOGSp.R535*
Nonsense
DNP
0.511
2--
MON1B-
-
-
-
1Loss-
MORC1p.K911I
p.E590K
p.N413Y
p.M250I
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.457
0.205
0.427
0.299
3Gain-
MORC2-
-
-
-
3Gain-
MORF4L1-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MOV10L1p.R440Q
Missense
SNP
0.232
3Gain-
MPC2-
-
-
-
3Gain-
MPDZ-
-
-
-
0Del-
MPHOSPH6-
-
-
-
1Loss-
MPI-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPP7-
-
-
-
1Loss-
MPPED1-
-
-
-
3Gain-
MPST-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAS-
-
-
-
3Gain-
MRC1-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MROH2B-
-
-
-
3Gain-
MROH9p.L177V
p.G761E
Missense
Missense
SNP
SNP
0.370
0.317
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL13-
-
-
-
3Gain-
MRPL24-
-
-
-
3Gain-
MRPL3-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL4-
-
-
-
3Gain-
MRPL40-
-
-
-
3Gain-
MRPL46-
-
-
-
3Gain-
MRPL47-
-
-
-
3Gain-
MRPL51p.P18L
Missense
SNP
0.265
2--
MRPL55-
-
-
-
3Gain-
MRPS11-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS18C-
-
-
-
1Loss-
MRPS22-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRPS30-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MRTFA-
-
-
-
3Gain-
MRVI1p.A108T
Missense
SNP
0.259
2--
MS4A1p.M71I
Missense
SNP
0.301
2--
MS4A3p.G103E
Missense
SNP
0.317
2--
MSC-
-
-
-
3Gain-
MSH4-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSMB-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTAP-
-
-
-
0Del-
MTBP-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTERF3p.S126L
Missense
SNP
0.285
3Gain-
MTF2-
-
-
-
3Gain-
MTFMT-
-
-
-
3Gain-
MTFP1-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTHFS-
-
-
-
3Gain-
MTHFSD-
-
-
-
1Loss-
MTMR12-
-
-
-
3Gain-
MTMR2p.S49F
Missense
SNP
0.560
2--
MTMR3-
-
-
-
3Gain-
MTPAP-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
3Gain-
MTSS1L-
-
-
-
1Loss-
MTTPp.P526L
Missense
SNP
0.956
1Loss-
MTURN-
-
-
-
3Gain-
MTUS2p.E466K
p.P543S
Missense
Missense
SNP
SNP
0.256
0.554
2--
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC12p.E274K
p.E1323K
Missense
Missense
SNP
SNP
0.579
1.000
3Gain-
MUC13-
-
-
-
3Gain-
MUC16p.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--
MUC17p.S1742L
p.G2336R
p.S3438L
p.S4104F
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.281
0.181
0.179
0.166
3Gain-
MUC20-
-
-
-
3Gain-
MUC3Ap.C128W
Missense
SNP
0.267
3Gain-
MUC4p.G4543A
p.T3124I
Missense
Missense
SNP
SNP
0.420
0.164
3Gain-
MUTp.P234S
Missense
SNP
0.231
2--
MVD-
-
-
-
1Loss-
MVPp.R456C
Missense
DNP
0.398
2--
MX2p.P163S
Missense
SNP
0.389
2--
MXRA5p.N1735S
p.K793T
p.S454F
Missense
Missense
Missense
SNP
SNP
SNP
0.967
0.473
0.970
NDND-
MYBL1-
-
-
-
3Gain-
MYBPC3p.G118E
Missense
SNP
0.535
2--
MYBPH-
-
-
-
3Gain-
MYEF2-
-
-
-
1Loss-
MYH1p.E1744Q
p.G1524E
p.R791Q
Missense
Missense
Missense
SNP
SNP
SNP
0.664
0.470
0.296
2--
MYH15p.E895D
Missense
SNP
0.467
3Gain-
MYH2p.S1476F
Missense
SNP
0.266
2--
MYH6p.E1586K
p.E874K
p.E375K
Missense
Missense
Missense
SNP
SNP
SNP
0.381
0.264
0.690
1Loss-
MYH7p.E944K
Missense
SNP
0.626
1Loss-
MYH9-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYLK3-
-
-
-
1Loss-
MYNN-
-
-
-
3Gain-
MYO15Ap.H422Y
p.P506L
Missense
Missense
SNP
SNP
0.283
0.269
2--
MYO18B-
-
-
-
3Gain-
MYO1E-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO3Ap.R973W
Missense
SNP
0.938
1Loss-
MYO3Bp.G1090R
Missense
SNP
0.450
2--
MYO5A-
-
-
-
1Loss-
MYO5Bp.E1255K
Missense
SNP
0.502
2--
MYO5C-
-
-
-
1Loss-
MYO7Ap.M1644I
Missense
SNP
0.337
2--
MYO9A-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCDp.S891F
Missense
SNP
0.254
2--
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM2p.E751K
Missense
SNP
0.402
2--
MYOZ2-
-
-
-
1Loss-
MYRFLp.K652I
Missense
SNP
0.248
2--
MYSM1p.P558S
Missense
SNP
0.328
3Gain-
MYT1Lp.E450K
Missense
SNP
0.492
2--
MYZAP-
-
-
-
3Gain-
N4BP1-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAAA-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NADK2-
-
-
-
3Gain-
NAE1-
-
-
-
1Loss-
NAGA-
-
-
-
3Gain-
NAMPT-
-
-
-
3Gain-
NANOGP8-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBEAL1p.P2477S
Missense
SNP
0.309
2--
NBN-
-
-
-
3Gain-
NBPF12p.S681F
Missense
SNP
0.812
2--
NCALD-
-
-
-
3Gain-
NCAPD3p.H690Y
Missense
SNP
0.671
2--
NCAPG2-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCLNp.E7A
Missense
SNP
0.500
2--
NCOA2p.R338C
Missense
SNP
0.453
3Gain-
NCOA3p.G1152E
Missense
SNP
0.210
2--
NCOA4-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDC1p.R644Q
Missense
SNP
0.743
2--
NDNp.P83S
Missense
SNP
0.255
2--
NDNF-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
3Gain-
NDUFAF1-
-
-
-
1Loss-
NDUFAF6-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFB6-
-
-
-
0Del-
NDUFS1p.R166*
Nonsense
DNP
0.403
2--
NDUFS2p.X404_splice
Splice_Site
SNP
0.163
3Gain-
NDUFS4-
-
-
-
3Gain-
NEBL-
-
-
-
1Loss-
NECAB1-
-
-
-
3Gain-
NECAB2-
-
-
-
1Loss-
NECAP2p.W42*
Nonsense
SNP
0.686
2--
NECTIN3-
-
-
-
3Gain-
NECTIN4-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEFH-
-
-
-
3Gain-
NEGR1-
-
-
-
3Gain-
NEIL1-
-
-
-
3Gain-
NEK11-
-
-
-
3Gain-
NEK2p.R190C
Missense
SNP
0.856
3Gain-
NEK4-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NELFCDp.L229F
Missense
DNP
0.534
2--
NELL2p.G612D
Missense
SNP
0.526
2--
NEMP1p.S372F
Missense
SNP
0.314
2--
NENF-
-
-
-
3Gain-
NEO1-
-
-
-
3Gain-
NEPRO-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEURL1p.H66Y
Missense
SNP
0.536
2--
NEUROD4p.S295L
Missense
SNP
0.318
2--
NEUROD6-
-
-
-
3Gain-
NEUROG2-
-
-
-
1Loss-
NEXN-
-
-
-
3Gain-
NF2-
-
-
-
3Gain-
NFAM1-
-
-
-
3Gain-
NFASC-
-
-
-
3Gain-
NFAT5-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIA-
-
-
-
3Gain-
NFIB-
-
-
-
0Del-
NFKB1-
-
-
-
1Loss-
NFKBIZ-
-
-
-
3Gain-
NFX1-
-
-
-
0Del-
NGDN-
-
-
-
1Loss-
NGRN-
-
-
-
3Gain-
NHLH1p.R55W
Missense
DNP
0.741
3Gain-
NHSL1p.S1578F
Missense
SNP
0.262
2--
NID1-
-
-
-
3Gain-
NID2p.G872S
Missense
SNP
0.339
2--
NIM1K-
-
-
-
3Gain-
NIP7-
-
-
-
1Loss-
NIPAL2-
-
-
-
3Gain-
NIPBL-
-
-
-
3Gain-
NIPSNAP1-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NIT2-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKD1-
-
-
-
1Loss-
NKD2p.P54S
Missense
SNP
0.488
2--
NKX2-6p.G279E
Missense
SNP
0.285
2--
NKX3-2p.G233E
Missense
SNP
0.254
2--
NKX6-1-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLGN4Xp.R669Q
Missense
SNP
0.444
NDND-
NLRC4p.D299N
Missense
SNP
0.230
2--
NLRC5-
-
-
-
1Loss-
NLRP1p.D639N
Missense
SNP
0.353
2--
NLRP11p.H117Y
Missense
SNP
0.237
2--
NLRP13p.E1019K
Missense
SNP
0.453
2--
NLRP3-
-
-
-
3Gain-
NLRP4p.P243L
p.E482K
Missense
Missense
SNP
SNP
0.497
0.229
2--
NLRP5p.G903E
Missense
SNP
0.464
2--
NLRP8p.P11L
p.L389F
Missense
Missense
SNP
SNP
0.386
0.279
2--
NMB-
-
-
-
3Gain-
NMD3-
-
-
-
3Gain-
NME7p.I344V
Missense
SNP
0.143
3Gain-
NME8-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMT2-
-
-
-
1Loss-
NNTp.S1044F
Missense
SNP
0.438
3Gain-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOD2-
-
-
-
1Loss-
NOL12-
-
-
-
3Gain-
NOL3-
-
-
-
1Loss-
NOL4p.E421K
Missense
SNP
0.308
2--
NOL6-
-
-
-
0Del-
NOM1-
-
-
-
3Gain-
NOP10-
-
-
-
1Loss-
NOP2p.A719V
p.S328F
Missense
Missense
SNP
SNP
0.621
0.312
2--
NOS1AP-
-
-
-
3Gain-
NOS2p.R740W
p.G64E
Missense
Missense
SNP
SNP
0.622
0.255
2--
NOS3p.D686N
p.C853G
Missense
Missense
SNP
SNP
0.188
0.395
3Gain-
NOV-
-
-
-
3Gain-
NOVA1p.G381E
Missense
SNP
0.291
2--
NOX5-
-
-
-
3Gain-
NPAP1p.G89D
p.P423L
Missense
Missense
SNP
SNP
0.238
0.252
2--
NPC1L1-
-
-
-
3Gain-
NPHP1p.D162A
Missense
SNP
0.556
2--
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPHP4p.P1157S
Missense
SNP
0.711
2--
NPHS2p.M187I
Missense
SNP
0.186
3Gain-
NPIPB15-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPNT-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPSR1-
-
-
-
3Gain-
NPTN-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPTXRp.X284_splice
Splice_Site
SNP
0.264
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY1Rp.G158S
Missense
SNP
0.121
2--
NPY2Rp.D42N
Missense
SNP
0.474
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR1I3-
-
-
-
3Gain-
NR2E3-
-
-
-
1Loss-
NR2F2-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRASp.E62Q
p.Q61R
Missense
Missense
SNP
SNP
0.740
0.729
2--
NRCAM-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRG1p.G13D
Missense
SNP
0.677
2--
NRG4-
-
-
-
3Gain-
NRKp.E549T
Missense
DNP
0.522
NDND-
NRN1L-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRXN1p.E139K
Missense
SNP
0.479
2--
NRXN2p.P1604S
Missense
DNP
0.604
2--
NSL1-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSUN3-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NTNG1-
-
-
-
3Gain-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK3p.R116W
Missense
SNP
0.151
3Gain-
NUAK2-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT16-
-
-
-
3Gain-
NUDT21-
-
-
-
1Loss-
NUDT5-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUDT9p.M295I
Missense
SNP
0.880
1Loss-
NUF2-
-
-
-
3Gain-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP205-
-
-
-
5Amp-
NUP210Lp.R1559G
Missense
SNP
0.801
3Gain-
NUP50-
-
-
-
3Gain-
NUP54-
-
-
-
1Loss-
NUP62CLp.Y166C
Missense
SNP
0.446
NDND-
NUP88p.F69Y
Missense
SNP
0.323
2--
NUP93-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUSAP1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NUTM1p.P77L
Missense
SNP
0.449
1Loss-
NVL-
-
-
-
3Gain-
NWD2p.R42W
p.W1169*
Missense
Nonsense
SNP
SNP
0.210
0.269
2--
NXF5p.R320Q
Missense
SNP
0.504
NDND-
NXPE3-
-
-
-
3Gain-
NXPH1p.S228F
Missense
SNP
0.299
3Gain-
NXPH3p.G289R
Missense
SNP
0.297
2--
NYAP1-
-
-
-
3Gain-
NYAP2p.P340S
Missense
SNP
0.241
2--
OAZ2-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OCLM-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODAMp.G102E
Missense
SNP
0.186
2--
ODAPH-
-
-
-
1Loss-
ODF1-
-
-
-
3Gain-
ODF2L-
-
-
-
3Gain-
ODF3L1-
-
-
-
3Gain-
ODR4-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OGDHL-
-
-
-
1Loss-
OGFOD1-
-
-
-
1Loss-
OIP5-
-
-
-
1Loss-
OLAH-
-
-
-
1Loss-
OLFM2-
-
-
-
3Gain-
OLFM3-
-
-
-
3Gain-
OLFML2Bp.G27E
Missense
SNP
0.131
3Gain-
OMA1-
-
-
-
3Gain-
ONECUT1-
-
-
-
3Gain-
OPA1-
-
-
-
3Gain-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPRK1p.A308V
Missense
SNP
0.269
2--
OPTC-
-
-
-
3Gain-
OPTN-
-
-
-
1Loss-
OR10A3p.M136I
Missense
SNP
0.642
2--
OR10J1-
-
-
-
3Gain-
OR10J3p.S149L
Missense
SNP
0.134
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR13A1-
-
-
-
1Loss-
OR13C3p.A335T
p.D24N
Missense
Missense
SNP
SNP
0.667
0.534
2--
OR13C5p.M185I
Missense
SNP
0.947
2--
OR13C7p.G235E
Missense
SNP
0.974
NDND-
OR13G1-
-
-
-
3Gain-
OR14A16p.S79F
Missense
SNP
0.367
3Gain-
OR14A2p.S104F
Missense
SNP
0.170
3Gain-
OR14C36p.G39R
p.G39E
Missense
Missense
SNP
SNP
0.108
0.169
3Gain-
OR14I1-
-
-
-
3Gain-
OR14J1p.S65F
Missense
SNP
0.693
2--
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1E2p.R50*
Nonsense
SNP
0.378
2--
OR1F1p.G147R
Missense
SNP
0.545
2--
OR1L4p.D71N
Missense
SNP
0.632
2--
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2B6p.C76*
Nonsense
DNP
0.326
2--
OR2C3-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3p.L27F
Missense
SNP
0.765
3Gain-
OR2G6-
-
-
-
3Gain-
OR2J2p.E197K
Missense
SNP
0.610
2--
OR2L13p.S92F
Missense
SNP
0.128
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W3-
-
-
-
3Gain-
OR4A15p.M31I
Missense
SNP
0.608
2--
OR4C12p.S74F
Missense
SNP
0.294
2--
OR4C15p.P337L
Missense
SNP
0.556
2--
OR4C16p.D266N
Missense
SNP
0.262
2--
OR4C6p.L84F
Missense
SNP
0.277
2--
OR4F15-
-
-
-
3Gain-
OR4F4-
-
-
-
3Gain-
OR4F6-
-
-
-
3Gain-
OR4K17p.G11D
Missense
SNP
0.492
2--
OR4L1p.W149*
Nonsense
SNP
0.277
2--
OR4N2p.G41E
Missense
SNP
0.240
2--
OR51A2p.P131L
Missense
SNP
0.943
2--
OR51B5p.P287S
Missense
SNP
0.664
2--
OR51F2p.R136C
Missense
SNP
0.611
2--
OR51T1p.L231F
Missense
SNP
0.645
2--
OR52J3p.G185S
Missense
SNP
0.342
2--
OR52N5p.M165I
Missense
SNP
0.936
2--
OR56A1p.L169F
Missense
SNP
0.562
2--
OR5AC2-
-
-
-
3Gain-
OR5B12p.L64F
Missense
SNP
0.327
2--
OR5B17p.E109K
Missense
SNP
0.376
2--
OR5H1p.L256F
Missense
SNP
0.265
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6p.S119F
Missense
SNP
0.470
3Gain-
OR5J2p.S217F
Missense
SNP
0.278
2--
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR6B1-
-
-
-
3Gain-
OR6C3p.G270E
Missense
SNP
0.337
2--
OR6F1p.S217F
Missense
SNP
0.739
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6p.C177R
Missense
SNP
0.183
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6V1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR7A5p.S223F
Missense
SNP
0.468
2--
OR8B2p.S7F
Missense
SNP
0.209
2--
OR8S1p.S183F
Missense
SNP
0.636
2--
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
OSBP2-
-
-
-
3Gain-
OSBPL11-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL9p.G7R
Missense
SNP
0.692
2--
OSER1p.P250L
Missense
SNP
0.461
2--
OSGIN1-
-
-
-
1Loss-
OSGIN2-
-
-
-
3Gain-
OSM-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OSTC-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOFp.G524E
Missense
SNP
0.290
2--
OTOGLp.R1610K
Missense
SNP
0.550
2--
OTOL1p.M261I
Missense
SNP
0.250
3Gain-
OTUD1-
-
-
-
1Loss-
OTUD6B-
-
-
-
3Gain-
OTUD7A-
-
-
-
1Loss-
OTUD7Bp.G190E
Missense
SNP
0.667
2--
OXCT1-
-
-
-
3Gain-
OXER1p.G289N
Missense
DNP
0.478
2--
OXR1-
-
-
-
3Gain-
OXSR1p.S367L
Missense
SNP
0.482
2--
P2RX6-
-
-
-
3Gain-
P2RY1-
-
-
-
3Gain-
P2RY11-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
PABPC1-
-
-
-
3Gain-
PABPC4Lp.P361L
Missense
SNP
0.385
2--
PABPC5p.F89S
Missense
SNP
0.439
NDND-
PABPN1L-
-
-
-
1Loss-
PACS2p.P550S
Missense
SNP
0.306
2--
PACSIN2-
-
-
-
3Gain-
PADI6p.E560K
Missense
SNP
0.490
2--
PAG1-
-
-
-
3Gain-
PAIP1-
-
-
-
3Gain-
PAK1p.D332N
Missense
SNP
0.312
2--
PAK2-
-
-
-
3Gain-
PAK6-
-
-
-
1Loss-
PALMD-
-
-
-
3Gain-
PANX2-
-
-
-
3Gain-
PANX3p.G22R
Missense
SNP
0.356
2--
PAPOLAp.K689R
Missense
SNP
0.369
2--
PAPOLB-
-
-
-
3Gain-
PAPPA2p.H1546Y
Missense
SNP
0.167
3Gain-
PAPSS1-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR5-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR9p.Q338*
Nonsense
SNP
0.570
3Gain-
PARD3-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARG-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PARP12p.P153L
Missense
DNP
0.359
3Gain-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP16-
-
-
-
3Gain-
PARP6-
-
-
-
3Gain-
PARP8-
-
-
-
3Gain-
PARP9-
-
-
-
3Gain-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PASKp.L675V
Missense
SNP
0.194
2--
PATJ-
-
-
-
3Gain-
PATL2-
-
-
-
1Loss-
PATZ1-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX8p.P321L
Missense
SNP
0.454
2--
PAXIP1-
-
-
-
3Gain-
PBX1p.S278F
Missense
SNP
0.179
3Gain-
PBXIP1-
-
-
-
3Gain-
PCCB-
-
-
-
3Gain-
PCDH1p.S290F
Missense
SNP
0.646
2--
PCDH15p.S1902L
Missense
SNP
0.917
1Loss-
PCDH17p.E1137K
Missense
SNP
0.509
2--
PCDH19p.S809C
Missense
SNP
0.949
NDND-
PCDHA11p.D344N
Missense
SNP
0.335
2--
PCDHA2p.E301K
Missense
SNP
0.244
2--
PCDHA4p.R428Q
Missense
SNP
0.526
2--
PCDHA8p.D378N
Missense
SNP
0.310
2--
PCDHA9p.S619N
p.E902K
Missense
Missense
SNP
SNP
0.382
0.294
2--
PCDHB11p.R407K
Missense
SNP
0.309
2--
PCDHB13p.G526E
Missense
SNP
0.407
2--
PCDHB15p.D342N
Missense
SNP
0.295
2--
PCDHB16p.G224E
Missense
SNP
0.638
2--
PCDHB3p.D51N
p.H283Y
Missense
Missense
SNP
SNP
0.338
0.647
2--
PCDHB5p.E144K
Missense
SNP
0.284
2--
PCDHB9p.S130L
Missense
SNP
0.316
2--
PCDHGA8p.Q647*
Nonsense
SNP
0.298
2--
PCDHGB1p.E307K
Missense
SNP
0.559
2--
PCDHGB4p.S137F
Missense
SNP
0.639
2--
PCLAF-
-
-
-
3Gain-
PCLOp.K2611R
p.K1289N
p.A967V
Missense
Missense
Missense
SNP
SNP
SNP
0.662
0.278
0.388
3Gain-
PCNP-
-
-
-
3Gain-
PCNX1p.R2139W
Missense
DNP
0.309
2--
PCNX2p.K1685E
p.A1428V
Missense
Missense
SNP
SNP
0.855
0.372
3Gain-
PCOLCE-
-
-
-
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCP2p.E9K
Missense
SNP
0.430
2--
PCP4L1-
-
-
-
3Gain-
PCSK6-
-
-
-
3Gain-
PCSK9p.E211K
Missense
SNP
0.226
2--
PCYT1Ap.R326H
Missense
SNP
0.453
3Gain-
PDAP1-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
0Del-
PDCD7-
-
-
-
3Gain-
PDE1Cp.E594K
Missense
SNP
0.188
3Gain-
PDE3Ap.D1017N
Missense
SNP
0.291
2--
PDE4A-
-
-
-
3Gain-
PDE4B-
-
-
-
3Gain-
PDE4D-
-
-
-
3Gain-
PDE5A-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDE7Bp.R86C
Missense
SNP
0.305
2--
PDE8A-
-
-
-
3Gain-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFBp.M93I
Missense
SNP
0.308
3Gain-
PDHA2-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDIA5-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM5-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDP2-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDXP-
-
-
-
3Gain-
PDZD2p.D79N
p.P913L
Missense
Missense
SNP
SNP
0.434
0.512
3Gain-
PDZRN3-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PEG3p.R963C
Missense
SNP
0.199
2--
PELI3p.P170F
Missense
DNP
0.327
2--
PELO-
-
-
-
3Gain-
PELP1p.A678V
Missense
SNP
0.287
2--
PENKp.E162K
Missense
SNP
0.213
2--
PER3p.D1208N
Missense
SNP
0.740
2--
PES1-
-
-
-
3Gain-
PEX1-
-
-
-
4Gain-
PEX11A-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PEX26-
-
-
-
3Gain-
PEX5Lp.D281N
Missense
SNP
0.234
3Gain-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB3-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PGBD2-
-
-
-
3Gain-
PGBD4-
-
-
-
1Loss-
PGBD5-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM1-
-
-
-
3Gain-
PGPEP1L-
-
-
-
3Gain-
PHC3-
-
-
-
3Gain-
PHETA2-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF21Bp.Q297*
Nonsense
SNP
0.250
3Gain-
PHF5A-
-
-
-
3Gain-
PHGR1-
-
-
-
1Loss-
PHIPp.P808L
p.L590S
Missense
Missense
DNP
SNP
0.727
0.626
2--
PHKB-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHLDB2-
-
-
-
3Gain-
PHLPP2-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYH-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI4KA-
-
-
-
3Gain-
PIAS1-
-
-
-
3Gain-
PICK1-
-
-
-
3Gain-
PIEZO1-
-
-
-
1Loss-
PIF1-
-
-
-
3Gain-
PIGB-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGK-
-
-
-
3Gain-
PIGLp.C177G
Missense
SNP
0.280
2--
PIGM-
-
-
-
3Gain-
PIGR-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
3Gain-
PIK3C2Ap.P748S
Missense
SNP
0.327
2--
PIK3C2B-
-
-
-
3Gain-
PIK3C2Gp.R378*
Nonsense
SNP
0.642
2--
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3CG-
-
-
-
3Gain-
PIK3IP1-
-
-
-
3Gain-
PIK3R4-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM3-
-
-
-
3Gain-
PINLYPp.S106F
Missense
SNP
0.161
2--
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PIP4P2-
-
-
-
3Gain-
PISD-
-
-
-
3Gain-
PITPNB-
-
-
-
3Gain-
PITRM1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PIWIL3-
-
-
-
3Gain-
PKD1L1-
-
-
-
3Gain-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKDREJp.S1334F
Missense
SNP
0.271
3Gain-
PKHD1L1p.Q763*
p.S2910L
p.V3182I
Nonsense
Missense
Missense
SNP
SNP
SNP
0.425
0.280
0.472
3Gain-
PKIA-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
3Gain-
PKN2-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PKP3p.R253Q
Missense
SNP
0.400
2--
PLA1A-
-
-
-
3Gain-
PLA2G12A-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G3-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2G6-
-
-
-
3Gain-
PLAA-
-
-
-
0Del-
PLAC8-
-
-
-
1Loss-
PLBD2p.P203S
Missense
SNP
0.366
2--
PLCB1p.E1130K
Missense
SNP
0.472
2--
PLCB2-
-
-
-
1Loss-
PLCB4p.G876E
Missense
SNP
0.396
2--
PLCG2-
-
-
-
1Loss-
PLCH1-
-
-
-
3Gain-
PLCXD2-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLCZ1p.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-
-
-
-
3Gain-
PLD5-
-
-
-
3Gain-
PLEKHA6-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHD1p.W139*
p.L250H
Nonsense
Missense
SNP
SNP
0.362
0.312
2--
PLEKHF2-
-
-
-
3Gain-
PLEKHG2p.P447L
Missense
SNP
0.233
2--
PLEKHG4-
-
-
-
1Loss-
PLEKHG7p.E29K
Missense
SNP
0.268
2--
PLEKHH2p.R16Q
Missense
SNP
0.267
2--
PLEKHO2-
-
-
-
3Gain-
PLGp.S632F
Missense
SNP
0.698
2--
PLGRKT-
-
-
-
0Del-
PLIN1-
-
-
-
3Gain-
PLIN2-
-
-
-
0Del-
PLK2-
-
-
-
3Gain-
PLLP-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPP1-
-
-
-
3Gain-
PLPP6-
-
-
-
0Del-
PLPPR2-
-
-
-
3Gain-
PLPPR4-
-
-
-
3Gain-
PLPPR5-
-
-
-
3Gain-
PLRG1-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXNA2-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PLXNB2-
-
-
-
3Gain-
PLXNB3p.E1321K
Missense
SNP
0.977
NDND-
PLXND1-
-
-
-
3Gain-
PM20D1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMLp.V657M
Missense
DNP
0.340
3Gain-
PMM1-
-
-
-
3Gain-
PMP2-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNLIPp.P225H
Missense
SNP
0.308
2--
PNMAL2p.E81K
Missense
SNP
0.203
NDND-
PNPLA2p.P497L
Missense
SNP
0.587
2--
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
PNPLA8-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
PODXL2-
-
-
-
3Gain-
POFUT1p.S357F
Missense
SNP
0.237
2--
POGK-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLDIP3-
-
-
-
3Gain-
POLG-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLNp.S771F
p.P279L
Missense
Missense
DNP
SNP
0.369
0.539
2--
POLQ-
-
-
-
3Gain-
POLR1Ep.R272C
Missense
DNP
0.933
2--
POLR2Ap.G424S
Missense
SNP
0.275
2--
POLR2C-
-
-
-
1Loss-
POLR2F-
-
-
-
3Gain-
POLR2H-
-
-
-
3Gain-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2Kp.R51K
Missense
SNP
0.403
3Gain-
POLR2M-
-
-
-
3Gain-
POLR3Ep.S93F
Missense
SNP
0.219
2--
POLR3H-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POM121L2p.G682R
Missense
SNP
0.286
2--
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POPDC2-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POU1F1-
-
-
-
3Gain-
POU2F1-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PPA2-
-
-
-
1Loss-
PPAN-
-
-
-
3Gain-
PPAN-P2RY11-
-
-
-
3Gain-
PPARA-
-
-
-
3Gain-
PPCDC-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPIA-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPICp.E68K
Missense
SNP
0.625
2--
PPIL2-
-
-
-
3Gain-
PPIP5K1-
-
-
-
1Loss-
PPM1F-
-
-
-
3Gain-
PPM1K-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R13Lp.P371L
Missense
SNP
0.304
2--
PPP1R14D-
-
-
-
1Loss-
PPP1R15B-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R42-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP2R3A-
-
-
-
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPP3CA-
-
-
-
1Loss-
PPP4R2-
-
-
-
3Gain-
PQLC2L-
-
-
-
3Gain-
PRAMEp.P171L
Missense
SNP
0.301
3Gain-
PRAMEF14p.E250K
Missense
SNP
0.450
NDND-
PRC1-
-
-
-
3Gain-
PRCC-
-
-
-
3Gain-
PRDM14p.R430K
Missense
SNP
0.258
3Gain-
PRDM5-
-
-
-
1Loss-
PRDM6p.S524F
Missense
SNP
0.632
2--
PRDM7-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELPp.E76K
Missense
SNP
0.147
3Gain-
PREX2p.D1049N
Missense
SNP
0.481
3Gain-
PRG4-
-
-
-
3Gain-
PRICKLE2-
-
-
-
3Gain-
PRKAA1-
-
-
-
3Gain-
PRKACB-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCBp.D484N
Missense
SNP
0.181
2--
PRKCGp.G358R
Missense
SNP
0.203
2--
PRKCI-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PRKCSH-
-
-
-
3Gain-
PRKG1-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKRIP1-
-
-
-
3Gain-
PRMT6-
-
-
-
3Gain-
PRMT7-
-
-
-
1Loss-
PRODH-
-
-
-
3Gain-
PROK2-
-
-
-
3Gain-
PROS1-
-
-
-
3Gain-
PROSER2-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PRPF18-
-
-
-
1Loss-
PRPF6p.L930F
Missense
SNP
0.498
2--
PRPS1L1-
-
-
-
3Gain-
PRR14L-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR23Ap.E81K
Missense
SNP
0.237
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR26-
-
-
-
1Loss-
PRR30p.P189F
Missense
DNP
0.463
2--
PRR5-
-
-
-
3Gain-
PRR5-ARHGAP8-
-
-
-
3Gain-
PRR7p.P225L
Missense
SNP
0.720
2--
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS12-
-
-
-
1Loss-
PRSS2-
-
-
-
3Gain-
PRSS3-
-
-
-
0Del-
PRSS37-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS48-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS58p.I208V
Missense
SNP
0.646
3Gain-
PRTFDC1-
-
-
-
1Loss-
PRTG-
-
-
-
3Gain-
PRUNE2p.G605E
Missense
SNP
0.933
2--
PSD4p.S99F
Missense
SNP
0.469
2--
PSEN2-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8p.S340L
p.G317D
Missense
Missense
SNP
SNP
0.500
0.511
1Loss-
PSG9p.L52F
Missense
SNP
0.490
1Loss-
PSIP1-
-
-
-
0Del-
PSKH1-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMA4-
-
-
-
3Gain-
PSMB10-
-
-
-
1Loss-
PSMB8p.R216W
Missense
SNP
0.683
2--
PSMC2p.R144I
Missense
SNP
0.315
3Gain-
PSMD2-
-
-
-
3Gain-
PSMD6-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSME4p.R625C
Missense
SNP
0.463
2--
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSTPIP1-
-
-
-
3Gain-
PTBP2-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTCHD3-
-
-
-
1Loss-
PTDSS1-
-
-
-
3Gain-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGDRp.R310Q
Missense
SNP
0.333
2--
PTGER3-
-
-
-
3Gain-
PTGER4-
-
-
-
3Gain-
PTGFR-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTPN12p.S649F
Missense
SNP
0.633
3Gain-
PTPN13p.S1754L
Missense
SNP
0.489
1Loss-
PTPN14p.V342I
Missense
SNP
0.185
3Gain-
PTPN20-
-
-
-
1Loss-
PTPN7-
-
-
-
3Gain-
PTPN9-
-
-
-
3Gain-
PTPRBp.E1444K
Missense
SNP
0.273
2--
PTPRC-
-
-
-
3Gain-
PTPRDp.P846S
Missense
SNP
0.778
0Del-
PTPRGp.A283V
Missense
SNP
0.250
3Gain-
PTPRJp.L947R
Missense
SNP
0.319
2--
PTPRNp.D701N
Missense
SNP
0.516
2--
PTPRN2-
-
-
-
3Gain-
PTPROp.P873L
Missense
SNP
0.662
2--
PTPRTp.S1368F
p.P489S
p.W306*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.231
0.245
0.366
2--
PTPRZ1-
-
-
-
3Gain-
PTX3-
-
-
-
3Gain-
PUM3-
-
-
-
0Del-
PURB-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PVALB-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PXDNLp.E685K
p.G248E
Missense
Missense
SNP
SNP
0.393
0.234
2--
PXYLP1-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYGBp.L145F
Missense
SNP
0.422
2--
PYGO1-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYURF-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
QTRT1-
-
-
-
3Gain-
QTRT2-
-
-
-
3Gain-
R3HCC1p.A419V
Missense
SNP
0.262
2--
RAB11A-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB18-
-
-
-
1Loss-
RAB19-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB36-
-
-
-
3Gain-
RAB3C-
-
-
-
3Gain-
RAB3D-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB43-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB6Ap.R84C
Missense
SNP
0.324
2--
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RAB8B-
-
-
-
3Gain-
RABGAP1L-
-
-
-
4Gain-
RABGEF1-
-
-
-
3Gain-
RABGGTB-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RABL3-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC2p.L67F
Missense
SNP
0.202
3Gain-
RACK1-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD51-
-
-
-
1Loss-
RAD54B-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RALYp.X220_splice
Splice_Site
SNP
0.425
2--
RALYL-
-
-
-
3Gain-
RAMAC-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RANBP1-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
0Del-
RANGAP1-
-
-
-
3Gain-
RAP1GAP2p.G233R
Missense
SNP
0.229
2--
RAP1GDS1-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF2p.P1273S
Missense
SNP
0.145
2--
RAPGEF3p.D19N
Missense
SNP
0.323
2--
RAPGEF5-
-
-
-
3Gain-
RARRES1-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RASA2-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASD2-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGRF1-
-
-
-
3Gain-
RASGRF2p.D551N
Missense
SNP
0.227
2--
RASGRP1-
-
-
-
1Loss-
RASL10A-
-
-
-
3Gain-
RASL12-
-
-
-
3Gain-
RASSF4-
-
-
-
1Loss-
RASSF5p.G415D
Missense
SNP
0.392
3Gain-
RASSF6p.Y64*
Nonsense
SNP
0.330
2--
RAVER1-
-
-
-
3Gain-
RAVER2-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBBP8NLp.G180R
Missense
SNP
0.222
2--
RBFOX1p.S209N
Missense
SNP
0.540
2--
RBFOX2-
-
-
-
3Gain-
RBL2-
-
-
-
1Loss-
RBM12B-
-
-
-
3Gain-
RBM17-
-
-
-
1Loss-
RBM20p.E1020K
Missense
SNP
0.572
2--
RBM26p.P227S
Missense
SNP
0.374
2--
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM46-
-
-
-
1Loss-
RBM48-
-
-
-
4Gain-
RBMXL1-
-
-
-
3Gain-
RBMXL3p.G308R
Missense
SNP
0.969
NDND-
RBP1p.D2N
Missense
SNP
0.350
3Gain-
RBP2-
-
-
-
3Gain-
RBP3-
-
-
-
1Loss-
RBPJLp.P468S
Missense
SNP
0.225
2--
RBPMS2-
-
-
-
3Gain-
RBX1-
-
-
-
3Gain-
RC3H1-
-
-
-
4Gain-
RC3H2p.P838L
Missense
SNP
0.631
2--
RCBTB2p.N478S
Missense
SNP
0.252
2--
RCC1L-
-
-
-
3Gain-
RCCD1-
-
-
-
3Gain-
RCHY1-
-
-
-
1Loss-
RCL1-
-
-
-
0Del-
RCN2-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RDH10-
-
-
-
3Gain-
RDH5p.E219D
Missense
SNP
0.336
2--
RDH8-
-
-
-
3Gain-
REC114-
-
-
-
3Gain-
REG1Bp.D95N
Missense
SNP
0.520
2--
RELNp.E3142K
p.E2973K
Missense
Missense
SNP
SNP
0.653
0.669
3Gain-
REM1p.R203P
Missense
SNP
0.475
2--
REN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REREp.S1366F
Missense
SNP
0.166
2--
RET-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
RFC2-
-
-
-
3Gain-
RFC4-
-
-
-
3Gain-
RFPL1-
-
-
-
3Gain-
RFPL2p.S326F
Missense
SNP
0.792
3Gain-
RFPL3p.G16E
Missense
SNP
0.410
3Gain-
RFT1p.E486G
Missense
SNP
0.400
2--
RFWD3-
-
-
-
1Loss-
RFX3-
-
-
-
0Del-
RFX7-
-
-
-
3Gain-
RFXANKp.P44S
Missense
SNP
0.232
2--
RGAG1p.R503K
Missense
SNP
0.946
NDND-
RGL1-
-
-
-
3Gain-
RGL3-
-
-
-
3Gain-
RGL4-
-
-
-
3Gain-
RGMA-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6p.R47K
Missense
SNP
0.352
2--
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHAGp.E161K
Missense
SNP
0.349
2--
RHBDD2p.S32Y
Missense
SNP
0.161
3Gain-
RHBDD3-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHCG-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOp.G121S
Missense
SNP
0.430
3Gain-
RHODp.W111*
Nonsense
SNP
0.349
2--
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
1Loss-
RIBC2-
-
-
-
3Gain-
RIC1-
-
-
-
0Del-
RICTOR-
-
-
-
3Gain-
RIDA-
-
-
-
3Gain-
RILPL2p.R206*
Nonsense
SNP
0.133
2--
RIMS2p.L584I
Missense
SNP
0.227
3Gain-
RINT1-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPOR1-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RLBP1-
-
-
-
3Gain-
RLN1-
-
-
-
0Del-
RLN2-
-
-
-
0Del-
RMDN1-
-
-
-
3Gain-
RMDN3-
-
-
-
1Loss-
RNASEH1p.V79D
Missense
SNP
0.523
2--
RNASEL-
-
-
-
3Gain-
RNF103p.F420L
Missense
SNP
0.472
2--
RNF111-
-
-
-
3Gain-
RNF123-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF148-
-
-
-
3Gain-
RNF166-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF17p.A226T
Missense
SNP
0.322
2--
RNF175-
-
-
-
1Loss-
RNF185-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF215-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF38p.P340L
Missense
SNP
0.957
2--
RNF7-
-
-
-
3Gain-
RNGTTp.R330C
Missense
SNP
0.255
2--
RNPC3-
-
-
-
3Gain-
RNPEP-
-
-
-
3Gain-
ROBO1-
-
-
-
3Gain-
ROBO2p.R1151*
Nonsense
SNP
0.255
3Gain-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROR1-
-
-
-
3Gain-
RORA-
-
-
-
3Gain-
ROS1p.G1392R
Missense
SNP
0.668
2--
RP11-385D13.1p.Q470*
Nonsense
SNP
0.627
NDND-
RP5-862P8.2p.E1031K
Missense
SNP
0.497
NDND-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAP1-
-
-
-
1Loss-
RPAP2-
-
-
-
3Gain-
RPE65-
-
-
-
3Gain-
RPF1-
-
-
-
3Gain-
RPGRIP1L-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL3-
-
-
-
3Gain-
RPL30-
-
-
-
3Gain-
RPL34-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL37-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL4-
-
-
-
3Gain-
RPL5-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPLP1-
-
-
-
3Gain-
RPN1-
-
-
-
3Gain-
RPP25-
-
-
-
3Gain-
RPP38-
-
-
-
1Loss-
RPS17-
-
-
-
3Gain-
RPS19BP1-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS27L-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS6-
-
-
-
0Del-
RPS6KC1-
-
-
-
3Gain-
RPTORp.L10F
Missense
SNP
0.130
2--
RPUSD2-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
0Del-
RRH-
-
-
-
1Loss-
RRM2B-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRP7A-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSL24D1-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RSPRY1-
-
-
-
1Loss-
RSRC1-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTCA-
-
-
-
3Gain-
RTCB-
-
-
-
3Gain-
RTEL1p.R1223I
Missense
SNP
0.211
2--
RTF1-
-
-
-
1Loss-
RTL10-
-
-
-
3Gain-
RTL6-
-
-
-
3Gain-
RTN4R-
-
-
-
3Gain-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RUBCN-
-
-
-
3Gain-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1p.S596L
p.R88Q
Missense
Missense
SNP
SNP
0.459
0.187
3Gain-
RUNX2p.E226K
Missense
SNP
0.664
2--
RUSC1-
-
-
-
3Gain-
RUSC2p.S463F
Missense
SNP
0.653
2--
RUVBL1-
-
-
-
3Gain-
RWDD3-
-
-
-
3Gain-
RXFP2p.G95E
Missense
SNP
0.294
2--
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYBP-
-
-
-
3Gain-
RYK-
-
-
-
3Gain-
RYR2p.D458N
p.E3002K
Missense
Missense
SNP
SNP
0.221
0.316
3Gain-
RYR3-
-
-
-
1Loss-
S100A1-
-
-
-
3Gain-
S100A11p.S16V
Missense
DNP
0.259
2--
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S1PR1-
-
-
-
3Gain-
S1PR2-
-
-
-
3Gain-
S1PR5-
-
-
-
3Gain-
SACSp.S3289L
Missense
SNP
0.295
2--
SAFB2p.R755C
Missense
SNP
0.413
2--
SALL1-
-
-
-
1Loss-
SALL3p.P95L
p.G651E
p.S1117L
Missense
Missense
Missense
SNP
DNP
SNP
0.606
0.295
0.225
2--
SAMD12p.P12L
Missense
SNP
0.459
3Gain-
SAMD13-
-
-
-
3Gain-
SAMD4Ap.P631L
Missense
SNP
0.340
2--
SAMD7-
-
-
-
3Gain-
SAMD9-
-
-
-
4Gain-
SAMD9L-
-
-
-
4Gain-
SAMHD1p.X209_splice
Splice_Site
SNP
0.502
2--
SAMM50-
-
-
-
3Gain-
SAP130p.P95L
Missense
SNP
0.305
2--
SAP18-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SASH1p.S90F
Missense
SNP
0.244
2--
SASS6-
-
-
-
3Gain-
SATL1p.I261V
Missense
SNP
0.923
NDND-
SAXO1-
-
-
-
0Del-
SAXO2-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SBSNp.E508K
Missense
SNP
0.213
2--
SBSPONp.E79K
Missense
SNP
0.345
3Gain-
SCAMP2-
-
-
-
3Gain-
SCAMP3-
-
-
-
3Gain-
SCAMP5-
-
-
-
3Gain-
SCAPER-
-
-
-
3Gain-
SCARB2-
-
-
-
1Loss-
SCARF2-
-
-
-
3Gain-
SCCPDH-
-
-
-
3Gain-
SCD5-
-
-
-
1Loss-
SCFD1p.P587L
Missense
SNP
0.390
2--
SCG3p.E192A
Missense
SNP
0.408
1Loss-
SCG5-
-
-
-
1Loss-
SCHIP1-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCN10Ap.E859K
Missense
SNP
0.221
2--
SCN11Ap.E418K
Missense
SNP
0.135
2--
SCN2Ap.G882E
Missense
SNP
0.541
2--
SCN2Bp.T15M
Missense
SNP
0.720
2--
SCN4Ap.D511N
Missense
DNP
0.604
2--
SCN5Ap.D498N
Missense
SNP
0.516
2--
SCNN1Bp.R200K
Missense
SNP
0.561
2--
SCRIBp.G907S
p.A516V
Missense
Missense
SNP
SNP
0.468
0.482
2--
SCRN1-
-
-
-
3Gain-
SCUBE1-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDAD1-
-
-
-
1Loss-
SDC2-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDK1p.M194I
p.G957E
p.R1615K
Missense
Missense
Missense
SNP
SNP
SNP
0.300
0.494
0.156
3Gain-
SDR42E1-
-
-
-
1Loss-
SDSp.D137A
Missense
SNP
0.619
2--
SEC11A-
-
-
-
3Gain-
SEC14L2-
-
-
-
3Gain-
SEC14L3p.I68S
Missense
SNP
0.217
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L6-
-
-
-
3Gain-
SEC16Bp.D969N
p.P966L
Missense
Missense
SNP
SNP
0.752
0.782
3Gain-
SEC22A-
-
-
-
3Gain-
SEC23Bp.Q145*
Nonsense
SNP
0.164
2--
SEC24B-
-
-
-
1Loss-
SEC24Dp.P64S
Missense
SNP
0.971
1Loss-
SEC31A-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC61A2-
-
-
-
1Loss-
SEC61G-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SECISBP2L-
-
-
-
1Loss-
SEL1L3p.M610I
Missense
SNP
0.410
2--
SELE-
-
-
-
3Gain-
SELENOF-
-
-
-
3Gain-
SELENOM-
-
-
-
3Gain-
SELENOO-
-
-
-
3Gain-
SELENOP-
-
-
-
3Gain-
SELENOS-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELOp.S222F
Missense
SNP
0.230
NDND-
SELP-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
3Gain-
SEMA5Bp.R458C
Missense
SNP
0.438
3Gain-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
3Gain-
SEMG1p.D416N
Missense
SNP
0.253
2--
SEMG2p.T236I
Missense
SNP
0.510
2--
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP7-
-
-
-
3Gain-
SENP8-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT3-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SERBP1-
-
-
-
3Gain-
SERF2-
-
-
-
1Loss-
SERHL2-
-
-
-
3Gain-
SERINC4p.X153_splice
Splice_Site
SNP
0.444
1Loss-
SERP1-
-
-
-
3Gain-
SERPINB7p.G341E
Missense
SNP
0.481
2--
SERPINC1-
-
-
-
4Gain-
SERPIND1-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SESN1p.P295S
Missense
SNP
0.289
2--
SETBP1p.P31S
Missense
SNP
0.488
2--
SETD1Ap.S1169F
Missense
SNP
0.265
2--
SETD6-
-
-
-
1Loss-
SETD9-
-
-
-
3Gain-
SEZ6p.G19E
Missense
SNP
0.358
2--
SEZ6Lp.A605V
p.D796N
Missense
Missense
SNP
SNP
0.198
0.235
3Gain-
SF3A1-
-
-
-
3Gain-
SF3B3-
-
-
-
1Loss-
SFI1p.Q402*
Nonsense
SNP
0.483
3Gain-
SFMBT2-
-
-
-
1Loss-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SGCE-
-
-
-
3Gain-
SGF29p.N37T
Missense
SNP
0.362
2--
SGIP1-
-
-
-
3Gain-
SGK2p.D228N
Missense
SNP
0.261
2--
SGK3-
-
-
-
3Gain-
SGMS1-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGSM1p.S512L
Missense
SNP
0.196
3Gain-
SGSM3-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D7-
-
-
-
3Gain-
SH3BP1-
-
-
-
3Gain-
SH3BP4p.S355F
Missense
SNP
0.250
2--
SH3BP5L-
-
-
-
3Gain-
SH3D19-
-
-
-
1Loss-
SH3GL2-
-
-
-
0Del-
SH3GL3-
-
-
-
3Gain-
SH3GLB1-
-
-
-
3Gain-
SH3RF2p.R263C
p.T724I
Missense
Missense
SNP
SNP
0.319
0.370
2--
SHANK3p.D340N
p.S944F
Missense
Missense
SNP
DNP
0.505
0.432
2--
SHC1-
-
-
-
3Gain-
SHC4-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA5p.E70K
Missense
SNP
0.241
2--
SHISA8-
-
-
-
3Gain-
SHISAL1-
-
-
-
3Gain-
SHOX2-
-
-
-
3Gain-
SHPKp.P303S
Missense
SNP
0.651
2--
SHQ1-
-
-
-
3Gain-
SHROOM3-
-
-
-
1Loss-
SIp.D1028N
p.D833N
Missense
Missense
SNP
SNP
0.198
0.249
3Gain-
SIAH1-
-
-
-
1Loss-
SIAH2-
-
-
-
3Gain-
SIDT1-
-
-
-
3Gain-
SIGLEC7p.G177E
Missense
SNP
0.241
2--
SIK3p.S978L
Missense
SNP
0.657
2--
SIN3A-
-
-
-
3Gain-
SIPA1L2p.Y653S
Missense
SNP
0.122
3Gain-
SKA3-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKIDA1-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SKIV2Lp.K1004I
Missense
DNP
0.301
2--
SKOR1-
-
-
-
3Gain-
SKP2-
-
-
-
3Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8p.A14T
Missense
SNP
0.855
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC10A6-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A6-
-
-
-
1Loss-
SLC12A8p.S232F
Missense
SNP
0.215
3Gain-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC15A2p.R492C
Missense
SNP
0.500
3Gain-
SLC16A14p.S302L
Missense
SNP
0.217
2--
SLC16A8-
-
-
-
3Gain-
SLC16A9-
-
-
-
1Loss-
SLC18A1p.P300S
Missense
SNP
0.528
2--
SLC18A2p.D460N
Missense
SNP
0.430
2--
SLC18A3-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
0Del-
SLC1A3-
-
-
-
3Gain-
SLC1A7p.P44L
Missense
SNP
0.496
2--
SLC22A25p.E458K
Missense
SNP
0.331
2--
SLC22A31-
-
-
-
1Loss-
SLC23A1p.E504K
Missense
SNP
0.643
2--
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
0Del-
SLC24A3p.D177N
Missense
SNP
0.293
2--
SLC24A4p.F612Y
Missense
SNP
0.293
2--
SLC24A5-
-
-
-
1Loss-
SLC25A1-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A17-
-
-
-
3Gain-
SLC25A18-
-
-
-
3Gain-
SLC25A23p.L226F
Missense
SNP
0.489
2--
SLC25A26-
-
-
-
3Gain-
SLC25A32-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC25A44-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7p.S270L
Missense
SNP
0.489
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A1p.E525K
Missense
SNP
0.301
2--
SLC27A2-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC27A6p.G378E
Missense
SNP
0.160
2--
SLC28A1-
-
-
-
3Gain-
SLC28A2-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A10p.T21I
Missense
SNP
0.434
2--
SLC2A11p.L224F
Missense
DNP
0.531
3Gain-
SLC2A2-
-
-
-
3Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A4-
-
-
-
1Loss-
SLC30A7-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC33A1-
-
-
-
3Gain-
SLC35A3-
-
-
-
3Gain-
SLC35A5-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35D1-
-
-
-
3Gain-
SLC35E4-
-
-
-
3Gain-
SLC35F3-
-
-
-
3Gain-
SLC35G2-
-
-
-
3Gain-
SLC37A3-
-
-
-
3Gain-
SLC38A4p.R104K
Missense
SNP
0.623
2--
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC38A9-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A12-
-
-
-
1Loss-
SLC39A8-
-
-
-
1Loss-
SLC41A1-
-
-
-
3Gain-
SLC41A3-
-
-
-
3Gain-
SLC44A2-
-
-
-
3Gain-
SLC44A3p.P169S
Missense
SNP
0.759
3Gain-
SLC44A5-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
3Gain-
SLC51B-
-
-
-
3Gain-
SLC52A3p.S228F
Missense
SNP
0.203
2--
SLC5A1-
-
-
-
3Gain-
SLC5A4-
-
-
-
3Gain-
SLC6A2-
-
-
-
1Loss-
SLC6A3p.S7F
Missense
SNP
0.364
2--
SLC6A9p.L658F
Missense
SNP
0.481
2--
SLC7A13p.L369I
Missense
SNP
0.506
3Gain-
SLC7A14-
-
-
-
3Gain-
SLC7A4-
-
-
-
3Gain-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC8A3p.M316I
p.P242S
p.E103K
Missense
Missense
Missense
SNP
SNP
SNP
0.350
0.272
0.677
2--
SLC9A5-
-
-
-
1Loss-
SLC9A9-
-
-
-
3Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C1-
-
-
-
3Gain-
SLC9C2-
-
-
-
3Gain-
SLCO1C1p.G91V
Missense
SNP
0.661
2--
SLCO2A1p.D600N
Missense
SNP
0.233
3Gain-
SLCO2B1p.S159F
Missense
SNP
0.309
2--
SLCO3A1-
-
-
-
3Gain-
SLCO4A1p.Y515D
Missense
SNP
0.237
2--
SLCO5A1p.G257E
Missense
SNP
0.231
3Gain-
SLFN13p.T156I
Missense
SNP
0.312
2--
SLFN14p.G241R
Missense
DNP
0.596
2--
SLITRK3-
-
-
-
3Gain-
SLITRK4p.S83L
Missense
SNP
0.460
NDND-
SLTM-
-
-
-
3Gain-
SMAD3-
-
-
-
3Gain-
SMAD6-
-
-
-
3Gain-
SMARCA2-
-
-
-
0Del-
SMARCA4-
-
-
-
3Gain-
SMARCAD1-
-
-
-
1Loss-
SMARCB1-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMC1Bp.E787K
Missense
SNP
0.363
3Gain-
SMC4-
-
-
-
3Gain-
SMCO1-
-
-
-
3Gain-
SMDT1-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7p.P565S
Missense
SNP
0.131
3Gain-
SMIM27-
-
-
-
0Del-
SMIM30-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMPD3-
-
-
-
1Loss-
SMTN-
-
-
-
3Gain-
SMU1-
-
-
-
0Del-
SMURF1-
-
-
-
3Gain-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAP29-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPC3-
-
-
-
0Del-
SNAPC5-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNCAIPp.G242E
p.D664N
Missense
Missense
SNP
SNP
0.289
0.695
2--
SND1-
-
-
-
3Gain-
SNHG12-
-
-
-
NDNDSNHG12--FLOT1
SNHG28-
-
-
-
3Gain-
SNRPA1-
-
-
-
3Gain-
SNRPD3-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTB2-
-
-
-
1Loss-
SNTG1p.E468K
Missense
SNP
0.233
2--
SNTN-
-
-
-
3Gain-
SNU13-
-
-
-
3Gain-
SNUPN-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX16-
-
-
-
3Gain-
SNX18-
-
-
-
3Gain-
SNX20-
-
-
-
1Loss-
SNX22-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SNX33-
-
-
-
3Gain-
SNX4-
-
-
-
3Gain-
SNX7-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SORBS3p.P572S
Missense
DNP
0.464
2--
SORD-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHBp.E597K
Missense
SNP
0.933
1Loss-
SOX10-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX14-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SP140p.E101K
p.G599R
Missense
Missense
SNP
SNP
0.228
0.227
2--
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPAG16p.P488S
Missense
SNP
0.457
2--
SPAG6-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPARCL1-
-
-
-
1Loss-
SPATA1-
-
-
-
3Gain-
SPATA13p.G1195E
Missense
SNP
0.361
2--
SPATA16-
-
-
-
3Gain-
SPATA17-
-
-
-
3Gain-
SPATA24p.P146S
Missense
SNP
0.633
2--
SPATA2L-
-
-
-
1Loss-
SPATA31D3-
-
-
-
0Del-
SPATA31D4-
-
-
-
0Del-
SPATA33-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA5-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA6L-
-
-
-
0Del-
SPATA8-
-
-
-
3Gain-
SPC24-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPDYCp.P288S
Missense
SNP
0.304
2--
SPDYE3-
-
-
-
3Gain-
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF2p.L297F
Missense
SNP
0.449
2--
SPERTp.S96F
p.E396K
Missense
Missense
SNP
SNP
0.364
0.311
2--
SPESP1-
-
-
-
3Gain-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
3Gain-
SPG7-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHKAPp.C1122Y
Missense
SNP
0.525
2--
SPICE1-
-
-
-
3Gain-
SPINK4-
-
-
-
0Del-
SPINT1-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPNS2p.D362N
Missense
SNP
0.333
2--
SPNS3p.G275R
Missense
SNP
0.444
2--
SPOCD1p.P261L
Missense
SNP
0.196
2--
SPP1-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRR4p.S2F
Missense
SNP
0.140
2--
SPRTN-
-
-
-
3Gain-
SPRY1-
-
-
-
1Loss-
SPSB2p.R220K
Missense
SNP
0.716
2--
SPSB4-
-
-
-
3Gain-
SPTA1p.L1745F
Missense
SNP
0.162
3Gain-
SPTBN4p.R151W
Missense
SNP
0.468
2--
SPTBN5-
-
-
-
1Loss-
SPTSSB-
-
-
-
3Gain-
SQOR-
-
-
-
1Loss-
SREBF2-
-
-
-
3Gain-
SRGAP2-
-
-
-
3Gain-
SRI-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRPRB-
-
-
-
3Gain-
SRRD-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF11-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSH1p.S648F
p.N297K
Missense
Missense
SNP
SNP
0.370
0.578
2--
SSMEM1-
-
-
-
3Gain-
SSPOp.P1223S
p.E1979K
Missense
Missense
DNP
SNP
0.408
0.373
3Gain-
SSR2-
-
-
-
3Gain-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSTR2p.M161I
Missense
SNP
0.340
2--
SSTR3p.G96R
Missense
SNP
0.432
3Gain-
SSU72P8-
-
-
-
3Gain-
SSX2IP-
-
-
-
3Gain-
ST13-
-
-
-
3Gain-
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL2-
-
-
-
1Loss-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GAL2p.G161E
Missense
SNP
0.235
2--
ST6GALNAC3-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST8SIA2-
-
-
-
3Gain-
ST8SIA6-
-
-
-
1Loss-
STAB2p.R644Q
p.V795I
Missense
Missense
SNP
SNP
0.381
0.432
2--
STAG1-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STAM-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STARD5-
-
-
-
3Gain-
STARD9-
-
-
-
1Loss-
STAU2-
-
-
-
3Gain-
STBD1-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STK4p.X435_splice
Splice_Site
DNP
0.486
2--
STMN2p.E10K
Missense
SNP
0.203
3Gain-
STMP1-
-
-
-
3Gain-
STOML1-
-
-
-
3Gain-
STON1p.Q537*
Nonsense
SNP
0.484
2--
STON2p.V655A
Missense
SNP
0.265
2--
STPG2-
-
-
-
1Loss-
STRA6p.L101F
Missense
SNP
0.425
3Gain-
STRA8-
-
-
-
3Gain-
STRC-
-
-
-
0Del-
STRIP2-
-
-
-
3Gain-
STUM-
-
-
-
3Gain-
STX19-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STXBP2p.P513L
Missense
SNP
0.471
2--
STXBP5Lp.S725F
Missense
SNP
0.176
3Gain-
STYK1p.D217N
Missense
SNP
0.564
2--
STYXL1-
-
-
-
3Gain-
SUCLA2p.S186L
Missense
SNP
0.306
2--
SUCLG2-
-
-
-
3Gain-
SUCNR1-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SULF1p.S242F
p.R595G
Missense
Missense
SNP
SNP
0.246
0.446
3Gain-
SULT1B1-
-
-
-
1Loss-
SULT1C2p.S102F
Missense
SNP
0.233
2--
SULT4A1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUPT6Hp.R265C
Missense
DNP
0.248
2--
SUSD2-
-
-
-
3Gain-
SUSD4-
-
-
-
3Gain-
SUV39H2-
-
-
-
1Loss-
SV2B-
-
-
-
3Gain-
SVEP1p.S2835T
Missense
SNP
0.990
2--
SVIL-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SWSAP1-
-
-
-
3Gain-
SWT1p.S480R
Missense
SNP
0.164
3Gain-
SYBU-
-
-
-
3Gain-
SYCE1L-
-
-
-
1Loss-
SYDE2-
-
-
-
3Gain-
SYN3-
-
-
-
3Gain-
SYNDIG1Lp.E65K
Missense
SNP
0.223
2--
SYNE1p.R6817Q
p.H4819Y
p.W2530*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.620
0.319
0.224
2--
SYNGR1-
-
-
-
3Gain-
SYNM-
-
-
-
3Gain-
SYNPO2-
-
-
-
1Loss-
SYNPR-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT15-
-
-
-
1Loss-
SYT2-
-
-
-
3Gain-
TAB1-
-
-
-
3Gain-
TAC1-
-
-
-
3Gain-
TACR3p.K332N
Missense
SNP
0.964
1Loss-
TACSTD2-
-
-
-
3Gain-
TADA1-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1L-
-
-
-
0Del-
TAF2-
-
-
-
3Gain-
TAF3-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAF6-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TAGLN3-
-
-
-
3Gain-
TANC2p.L1085F
Missense
SNP
0.271
2--
TANGO2-
-
-
-
3Gain-
TANGO6-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARSL2-
-
-
-
3Gain-
TAS2R16p.Q5*
Nonsense
SNP
0.600
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBC1D10A-
-
-
-
3Gain-
TBC1D21-
-
-
-
3Gain-
TBC1D22A-
-
-
-
3Gain-
TBC1D23-
-
-
-
3Gain-
TBC1D2B-
-
-
-
3Gain-
TBC1D31-
-
-
-
3Gain-
TBC1D9p.P1252L
Missense
SNP
0.179
2--
TBCCD1-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBCK-
-
-
-
1Loss-
TBL1XR1-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX1-
-
-
-
3Gain-
TBX10p.N79Y
Missense
SNP
0.335
2--
TBX19-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEAL2p.R110K
Missense
SNP
0.381
NDND-
TCF12-
-
-
-
3Gain-
TCF20-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TCF25p.D301N
Missense
DNP
0.941
1Loss-
TCHHL1p.E556K
Missense
SNP
0.464
2--
TCN2-
-
-
-
3Gain-
TCTEX1D1-
-
-
-
3Gain-
TCTEX1D2-
-
-
-
3Gain-
TDRD10-
-
-
-
3Gain-
TDRD12p.Q3*
Nonsense
SNP
0.241
2--
TDRD5p.W541G
Missense
SNP
0.832
3Gain-
TEAD2p.L164F
Missense
SNP
0.414
2--
TECPR1-
-
-
-
5Amp-
TECTAp.P1764S
Missense
SNP
0.312
2--
TEDDM1-
-
-
-
3Gain-
TEF-
-
-
-
3Gain-
TEK-
-
-
-
0Del-
TENM1p.G2679E
Missense
SNP
0.416
NDND-
TENM4p.R1717Q
Missense
SNP
0.271
2--
TENT4B-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TET2-
-
-
-
1Loss-
TET3p.S985F
Missense
SNP
0.519
2--
TEX13Ap.D253N
Missense
SNP
0.878
NDND-
TEX26p.L13F
Missense
SNP
0.298
2--
TEX33p.E104K
Missense
SNP
0.453
3Gain-
TEX35-
-
-
-
3Gain-
TEX47-
-
-
-
3Gain-
TEX50-
-
-
-
4Gain-
TEX9-
-
-
-
3Gain-
TF-
-
-
-
3Gain-
TFAM-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFCP2p.R98Q
Missense
SNP
0.263
2--
TFDP2-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFG-
-
-
-
3Gain-
TFIP11-
-
-
-
3Gain-
TFPI2-
-
-
-
4Gain-
TFR2p.E36K
Missense
SNP
0.479
3Gain-
TFRC-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFBR3-
-
-
-
3Gain-
TGM3p.Y313*
Nonsense
SNP
0.427
2--
TGM5-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
THAP10-
-
-
-
3Gain-
THAP11-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP6-
-
-
-
1Loss-
THAP7-
-
-
-
3Gain-
THAP9-
-
-
-
1Loss-
THBS1-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THBS4p.D535N
Missense
SNP
0.614
2--
THEM5p.E97K
Missense
SNP
0.698
2--
THNSL1-
-
-
-
1Loss-
THOC2p.S827L
Missense
SNP
0.949
NDND-
THOC5-
-
-
-
3Gain-
THOC7-
-
-
-
3Gain-
THPO-
-
-
-
3Gain-
THSD4-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
THSD7Bp.R544Q
Missense
SNP
0.425
2--
THTPA-
-
-
-
1Loss-
TICRRp.R913*
Nonsense
SNP
0.243
3Gain-
TIFA-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3p.E456K
Missense
SNP
0.619
2--
TIGD4-
-
-
-
1Loss-
TIGIT-
-
-
-
3Gain-
TIMD4p.E372K
Missense
SNP
0.636
2--
TIMM17A-
-
-
-
3Gain-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM29-
-
-
-
3Gain-
TIMM44p.Q243*
Nonsense
SNP
0.269
2--
TIMMDC1-
-
-
-
3Gain-
TIMP3-
-
-
-
3Gain-
TINAGp.A266T
Missense
SNP
0.668
2--
TIPARP-
-
-
-
3Gain-
TIPIN-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TJP1p.R1342W
Missense
SNP
0.263
2--
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE3-
-
-
-
3Gain-
TLE7-
-
-
-
1Loss-
TLK2p.Q204*
Nonsense
SNP
0.389
2--
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR2-
-
-
-
1Loss-
TLR4p.P539S
Missense
SNP
0.943
2--
TLR5-
-
-
-
3Gain-
TLR8p.L932F
Missense
SNP
0.921
NDND-
TM2D1-
-
-
-
3Gain-
TM2D3-
-
-
-
3Gain-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM6SF1-
-
-
-
3Gain-
TM7SF3p.X31_splice
Splice_Site
SNP
0.343
2--
TMBIM1p.T237F
Missense
DNP
0.388
2--
TMC2p.L782F
Missense
SNP
0.343
2--
TMC3p.G405E
Missense
SNP
0.392
3Gain-
TMCC1-
-
-
-
3Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO5A-
-
-
-
1Loss-
TMED1-
-
-
-
3Gain-
TMED3-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED5-
-
-
-
3Gain-
TMED6-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM108-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM121B-
-
-
-
3Gain-
TMEM130p.R336K
Missense
SNP
0.432
3Gain-
TMEM131L-
-
-
-
1Loss-
TMEM135p.Q269*
Nonsense
SNP
0.618
2--
TMEM136p.L139F
Missense
SNP
0.364
2--
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM150C-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM158p.G21R
Missense
SNP
0.172
2--
TMEM168-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM174p.D110N
Missense
SNP
0.329
2--
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
3Gain-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM202-
-
-
-
3Gain-
TMEM203p.S68F
Missense
SNP
0.956
2--
TMEM205-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM207-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM211-
-
-
-
3Gain-
TMEM212-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM215-
-
-
-
0Del-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM236-
-
-
-
1Loss-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM266-
-
-
-
3Gain-
TMEM267-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM273-
-
-
-
1Loss-
TMEM39A-
-
-
-
3Gain-
TMEM40p.S64F
Missense
SNP
0.237
2--
TMEM41A-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM56-
-
-
-
3Gain-
TMEM56-RWDD3-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM62-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM63Cp.E721K
Missense
SNP
0.273
2--
TMEM64-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM74p.D32N
Missense
SNP
0.480
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM87A-
-
-
-
1Loss-
TMEM9-
-
-
-
3Gain-
TMF1-
-
-
-
3Gain-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMPRSS11Fp.R274Q
Missense
SNP
0.370
2--
TMPRSS15p.D670N
p.P521S
p.D493N
Missense
Missense
Missense
SNP
SNP
SNP
0.320
0.307
0.324
2--
TMPRSS6-
-
-
-
3Gain-
TMPRSS7-
-
-
-
3Gain-
TMPRSS9p.G1000N
Missense
DNP
0.466
2--
TMUB1-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF13C-
-
-
-
3Gain-
TNFRSF25p.Q101*
Nonsense
SNP
0.270
2--
TNFSF10-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIK-
-
-
-
3Gain-
TNIP3-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNN-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNI3K-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRp.E544K
Missense
SNP
0.836
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6B-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNXBp.S2002F
Missense
SNP
0.284
1Loss-
TOB2-
-
-
-
3Gain-
TOM1p.S123F
Missense
SNP
0.248
3Gain-
TOMM20-
-
-
-
3Gain-
TOMM22-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOMM70-
-
-
-
3Gain-
TOP3B-
-
-
-
3Gain-
TOPBP1-
-
-
-
3Gain-
TOPORS-
-
-
-
0Del-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TOX3-
-
-
-
1Loss-
TP53p.R110C
Missense
SNP
0.261
2--
TP53BP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TP63-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPD52L3-
-
-
-
0Del-
TPK1-
-
-
-
3Gain-
TPM1-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TPST2-
-
-
-
3Gain-
TPTEP2-CSNK1E-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRABD-
-
-
-
3Gain-
TRADD-
-
-
-
1Loss-
TRAF3IP3p.E193K
Missense
SNP
0.172
3Gain-
TRAF5-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRAM1L1-
-
-
-
1Loss-
TRANK1p.L1418F
Missense
SNP
0.223
2--
TRAPPC10p.E735*
Nonsense
SNP
0.520
2--
TRAPPC2L-
-
-
-
1Loss-
TRAT1-
-
-
-
3Gain-
TRAV12-1p.S51F
p.S93F
Missense
Missense
SNP
SNP
0.323
0.281
NDND-
TRBV2p.S67F
Missense
SNP
0.323
NDND-
TRDMT1-
-
-
-
1Loss-
TRH-
-
-
-
3Gain-
TRHRp.D237N
Missense
SNP
0.410
3Gain-
TRIL-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM2-
-
-
-
1Loss-
TRIM22p.R476*
Nonsense
SNP
0.553
2--
TRIM24p.N995K
Missense
SNP
0.730
3Gain-
TRIM4-
-
-
-
3Gain-
TRIM41-
-
-
-
1Loss-
TRIM42-
-
-
-
3Gain-
TRIM46-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM52-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM64Bp.S379F
Missense
SNP
0.175
2--
TRIM67-
-
-
-
3Gain-
TRIM69-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM71p.S396F
Missense
SNP
0.237
2--
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIML1p.E45K
Missense
SNP
0.391
2--
TRIOBP-
-
-
-
3Gain-
TRIP10p.L569F
Missense
SNP
0.449
2--
TRIP4-
-
-
-
3Gain-
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT13-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TRMT2A-
-
-
-
3Gain-
TRMU-
-
-
-
3Gain-
TROAPp.S123F
Missense
SNP
0.310
2--
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPC3-
-
-
-
1Loss-
TRPM1p.S1601F
Missense
SNP
0.519
2--
TRPM6p.S504L
Missense
SNP
0.920
2--
TRPM7-
-
-
-
1Loss-
TRPS1-
-
-
-
3Gain-
TRPV5p.R589K
Missense
SNP
0.320
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TRUB2p.R271K
Missense
SNP
0.942
2--
TSACC-
-
-
-
3Gain-
TSC22D2-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHZ3p.S525F
Missense
SNP
0.523
2--
TSKSp.G413E
Missense
SNP
0.420
2--
TSKUp.A10V
Missense
SNP
0.266
2--
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN16-
-
-
-
3Gain-
TSPAN3-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPAN5-
-
-
-
1Loss-
TSPAN8p.I116N
Missense
SNP
0.280
2--
TSPO-
-
-
-
3Gain-
TSPYL5-
-
-
-
3Gain-
TSR1p.R279*
Nonsense
SNP
0.404
2--
TSSK2-
-
-
-
3Gain-
TST-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC12p.A83V
Missense
SNP
0.261
2--
TTC13-
-
-
-
3Gain-
TTC14-
-
-
-
3Gain-
TTC23-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTC28-
-
-
-
3Gain-
TTC29p.H187Y
Missense
SNP
0.556
2--
TTC33-
-
-
-
3Gain-
TTC38-
-
-
-
3Gain-
TTC39B-
-
-
-
0Del-
TTC6p.E114K
Missense
SNP
0.361
2--
TTLL1-
-
-
-
3Gain-
TTLL12-
-
-
-
3Gain-
TTLL13P-
-
-
-
3Gain-
TTLL7-
-
-
-
3Gain-
TTLL8-
-
-
-
3Gain-
TTNp.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-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBA3Cp.P173S
Missense
SNP
0.544
2--
TUBA8-
-
-
-
3Gain-
TUBAL3-
-
-
-
1Loss-
TUBB3-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP6p.S629Y
Missense
DNP
0.451
3Gain-
TULP2p.R170Q
Missense
SNP
0.381
2--
TUSC1-
-
-
-
0Del-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXKp.P268L
Missense
SNP
0.298
2--
TXN2-
-
-
-
3Gain-
TXNDC16p.P115S
Missense
SNP
0.266
2--
TXNL4B-
-
-
-
1Loss-
TXNRD2-
-
-
-
3Gain-
TXNRD3-
-
-
-
3Gain-
TYK2-
-
-
-
3Gain-
TYRO3-
-
-
-
1Loss-
TYRP1-
-
-
-
0Del-
TYW1-
-
-
-
3Gain-
TYW1Bp.E242K
Missense
SNP
0.152
3Gain-
TYW3-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UACA-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBA3-
-
-
-
3Gain-
UBA5-
-
-
-
3Gain-
UBAP1-
-
-
-
0Del-
UBAP1L-
-
-
-
3Gain-
UBAP2p.R149K
Missense
SNP
0.873
0Del-
UBAP2L-
-
-
-
3Gain-
UBE2D1-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2L3-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
3Gain-
UBE2Q2L-
-
-
-
3Gain-
UBE2QL1p.E149K
Missense
SNP
0.190
2--
UBE2R2-
-
-
-
0Del-
UBE2T-
-
-
-
3Gain-
UBE2U-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBL7-
-
-
-
3Gain-
UBN2p.R247C
Missense
SNP
0.163
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR1-
-
-
-
1Loss-
UBR5-
-
-
-
3Gain-
UBXN7-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCMA-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UFD1-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGT1A10p.S122L
Missense
SNP
0.247
2--
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3p.P387S
Missense
SNP
0.459
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15p.D493N
Missense
SNP
0.200
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT8-
-
-
-
1Loss-
UHMK1-
-
-
-
3Gain-
UHRF2-
-
-
-
0Del-
ULK3-
-
-
-
3Gain-
ULK4p.S1110F
Missense
SNP
0.233
2--
UMAD1-
-
-
-
3Gain-
UMPS-
-
-
-
3Gain-
UNC13Cp.E85D
p.D919N
p.L2203P
Missense
Missense
Missense
SNP
SNP
SNP
0.472
0.155
0.494
3Gain-
UNC45A-
-
-
-
3Gain-
UNC5C-
-
-
-
1Loss-
UNC5Dp.Q910*
Nonsense
SNP
0.481
2--
UNC80p.D1373N
p.E2185K
Missense
Missense
SNP
SNP
0.213
0.227
2--
UNCX-
-
-
-
3Gain-
UPB1-
-
-
-
3Gain-
UPF2-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPK3A-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCR10-
-
-
-
3Gain-
UQCRB-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
UROC1p.A196V
Missense
SNP
0.473
3Gain-
USB1-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USF3-
-
-
-
3Gain-
USH2Ap.R2509W
p.P1531S
Missense
Missense
SNP
SNP
0.150
0.786
3Gain-
USHBP1p.L269F
Missense
SNP
0.285
2--
USO1-
-
-
-
1Loss-
USP1-
-
-
-
3Gain-
USP10-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP18-
-
-
-
3Gain-
USP19p.P289L
Missense
SNP
0.293
2--
USP21-
-
-
-
3Gain-
USP26p.S787F
Missense
SNP
0.511
NDND-
USP29p.E912K
Missense
SNP
0.245
2--
USP3-
-
-
-
3Gain-
USP33-
-
-
-
3Gain-
USP41p.G61E
Missense
SNP
0.206
3Gain-
USP42-
-
-
-
3Gain-
USP43p.E316K
Missense
SNP
0.301
2--
USP46p.R60W
Missense
SNP
0.229
2--
USP50-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
UTP14Cp.D601Y
Missense
SNP
0.240
2--
UTP23-
-
-
-
3Gain-
UTP25-
-
-
-
3Gain-
UTP4-
-
-
-
1Loss-
UTS2B-
-
-
-
3Gain-
VAC14-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VAT1L-
-
-
-
1Loss-
VCAM1-
-
-
-
3Gain-
VCPIP1-
-
-
-
3Gain-
VEPH1-
-
-
-
3Gain-
VGF-
-
-
-
3Gain-
VGLL3-
-
-
-
3Gain-
VHLL-
-
-
-
3Gain-
VIM-
-
-
-
1Loss-
VIPR1p.D362N
Missense
SNP
0.507
2--
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
0Del-
VOPP1-
-
-
-
3Gain-
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS13Ap.D2685N
Missense
SNP
0.643
2--
VPS13B-
-
-
-
3Gain-
VPS13C-
-
-
-
3Gain-
VPS18-
-
-
-
1Loss-
VPS33Ap.R70C
Missense
SNP
0.534
2--
VPS33B-
-
-
-
3Gain-
VPS35-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS39-
-
-
-
1Loss-
VPS41-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS50-
-
-
-
4Gain-
VPS8-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VRTNp.Q559*
Nonsense
SNP
0.371
2--
VSIG8-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSTM4-
-
-
-
1Loss-
VTCN1p.P171T
Missense
SNP
0.791
2--
VWA5B2-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWDEp.S626L
Missense
SNP
0.126
3Gain-
VWFp.P2694S
Missense
SNP
0.484
2--
VXN-
-
-
-
3Gain-
WAC-
-
-
-
1Loss-
WASp.W500*
Nonsense
SNP
0.562
NDND-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WBP1p.F34L
Missense
SNP
0.534
2--
WBP2NL-
-
-
-
3Gain-
WDFY3-
-
-
-
1Loss-
WDFY4p.S1007F
Missense
SNP
0.416
1Loss-
WDR1p.P417L
Missense
SNP
0.374
2--
WDR18p.P352S
Missense
SNP
0.184
2--
WDR26-
-
-
-
3Gain-
WDR35p.V373L
Missense
SNP
0.449
2--
WDR37-
-
-
-
1Loss-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR59-
-
-
-
1Loss-
WDR5B-
-
-
-
3Gain-
WDR60-
-
-
-
3Gain-
WDR61-
-
-
-
3Gain-
WDR63-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR66p.P881L
Missense
SNP
0.456
2--
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
3Gain-
WDR73-
-
-
-
3Gain-
WDR76-
-
-
-
1Loss-
WDR78-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR87p.M1862I
p.E1328K
Missense
Missense
SNP
SNP
0.451
0.207
2--
WDR91-
-
-
-
3Gain-
WDR93-
-
-
-
3Gain-
WEE2p.G421R
Missense
SNP
0.278
3Gain-
WFDC1-
-
-
-
1Loss-
WHAMM-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WLS-
-
-
-
3Gain-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
WNT6p.R244C
Missense
SNP
0.264
2--
WNT7B-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
WWOXp.L225F
Missense
SNP
0.483
1Loss-
WWP1-
-
-
-
3Gain-
WWP2-
-
-
-
1Loss-
WWTR1-
-
-
-
3Gain-
XBP1-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XDHp.G458E
Missense
SNP
0.185
2--
XIRP1p.M1060I
Missense
SNP
0.551
2--
XIRP2p.H341Y
p.E568K
Missense
Missense
SNP
SNP
0.528
0.235
2--
XKR3-
-
-
-
3Gain-
XKR5p.G558S
Missense
SNP
0.250
2--
XKR9-
-
-
-
3Gain-
XPNPEP3-
-
-
-
3Gain-
XPO4-
-
-
-
3Gain-
XPR1-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRCC6-
-
-
-
3Gain-
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
XYLT1p.M445I
Missense
SNP
0.398
2--
YAE1-
-
-
-
3Gain-
YDJC-
-
-
-
3Gain-
YEATS2p.P472L
Missense
SNP
0.421
3Gain-
YIPF2-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YME1L1-
-
-
-
1Loss-
YOD1-
-
-
-
3Gain-
YPEL1-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAG-
-
-
-
3Gain-
YWHAH-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
Z82190.2-
-
-
-
3Gain-
Z83844.1-
-
-
-
3Gain-
Z83844.3-
-
-
-
3Gain-
ZANp.Q2530*
Nonsense
SNP
0.557
3Gain-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED4-
-
-
-
3Gain-
ZBED6-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB11-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB20-
-
-
-
3Gain-
ZBTB22p.M524I
Missense
SNP
0.695
2--
ZBTB37-
-
-
-
4Gain-
ZBTB38-
-
-
-
3Gain-
ZBTB4p.P288L
Missense
SNP
0.241
2--
ZBTB41-
-
-
-
3Gain-
ZBTB43p.P13S
Missense
SNP
0.624
2--
ZBTB47p.P408S
Missense
SNP
0.180
2--
ZBTB7B-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H18-
-
-
-
1Loss-
ZC3H7B-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZC4H2p.K102E
Missense
SNP
0.388
NDND-
ZCCHC14-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZCWPW2p.W150*
Nonsense
SNP
0.489
2--
ZDBF2p.R2047Q
Missense
DNP
0.487
2--
ZDHHC1-
-
-
-
1Loss-
ZDHHC19-
-
-
-
3Gain-
ZDHHC21-
-
-
-
0Del-
ZDHHC23-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZDHHC6p.S376T
Missense
SNP
0.941
2--
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
3Gain-
ZEB1-
-
-
-
1Loss-
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAND4-
-
-
-
1Loss-
ZFAND6-
-
-
-
3Gain-
ZFHX2-
-
-
-
1Loss-
ZFHX3p.L32F
Missense
SNP
0.904
1Loss-
ZFHX4p.S2565F
Missense
SNP
0.260
3Gain-
ZFP1-
-
-
-
1Loss-
ZFP2p.E2K
Missense
SNP
0.261
2--
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFPM2p.P676L
Missense
SNP
0.497
3Gain-
ZFR2p.P54S
Missense
SNP
0.460
2--
ZFYVE19-
-
-
-
1Loss-
ZFYVE26p.L1914F
Missense
SNP
0.626
2--
ZGLP1-
-
-
-
3Gain-
ZGRF1-
-
-
-
1Loss-
ZHX2-
-
-
-
3Gain-
ZIC1-
-
-
-
3Gain-
ZIC4-
-
-
-
3Gain-
ZIM3p.G397E
Missense
SNP
0.175
2--
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZMAT2p.M133V
Missense
SNP
0.710
2--
ZMAT3-
-
-
-
3Gain-
ZMAT5-
-
-
-
3Gain-
ZMIZ1p.S145L
Missense
SNP
0.493
2--
ZMIZ2-
-
-
-
3Gain-
ZMYM2-
-
-
-
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYND11-
-
-
-
1Loss-
ZNF10p.S251L
Missense
SNP
0.558
2--
ZNF106-
-
-
-
1Loss-
ZNF112p.E585K
p.C583R
Missense
Missense
SNP
SNP
0.306
0.183
2--
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF14p.R542C
Missense
SNP
0.179
2--
ZNF146p.H234Y
Missense
SNP
0.226
2--
ZNF148-
-
-
-
3Gain-
ZNF182p.R282Q
Missense
SNP
1.000
NDND-
ZNF19-
-
-
-
1Loss-
ZNF202p.P456L
Missense
SNP
0.282
2--
ZNF212-
-
-
-
3Gain-
ZNF22-
-
-
-
1Loss-
ZNF227p.S136F
Missense
SNP
0.460
2--
ZNF23-
-
-
-
1Loss-
ZNF233p.H308Y
Missense
SNP
0.226
2--
ZNF236p.D1566E
Missense
SNP
0.596
2--
ZNF239-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF280D-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF285p.S337F
Missense
SNP
0.295
2--
ZNF286Bp.A475V
Missense
DNP
0.485
2--
ZNF3-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF319-
-
-
-
1Loss-
ZNF32-
-
-
-
1Loss-
ZNF326-
-
-
-
3Gain-
ZNF33Ap.H108Y
Missense
SNP
1.000
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF354Ap.P493S
Missense
SNP
0.593
2--
ZNF354Bp.S228F
Missense
SNP
0.228
2--
ZNF37A-
-
-
-
1Loss-
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF419p.K448N
Missense
SNP
0.529
2--
ZNF420p.E388K
Missense
SNP
0.203
2--
ZNF423-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF438-
-
-
-
1Loss-
ZNF467-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF479p.S91F
Missense
SNP
0.177
2--
ZNF485-
-
-
-
1Loss-
ZNF486p.E113K
Missense
SNP
0.236
2--
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF492p.Q64*
Nonsense
SNP
0.210
2--
ZNF496-
-
-
-
3Gain-
ZNF529p.P15L
Missense
SNP
0.227
2--
ZNF534p.D35N
p.S156F
p.H329Y
Missense
Missense
Missense
SNP
SNP
SNP
0.210
0.174
0.255
2--
ZNF544p.S683C
Missense
SNP
0.518
2--
ZNF560p.G690E
p.W178*
Missense
Nonsense
SNP
SNP
0.243
0.115
2--
ZNF564p.L71F
Missense
SNP
0.133
2--
ZNF573p.E271K
Missense
SNP
0.193
2--
ZNF578p.W38*
Nonsense
SNP
0.264
2--
ZNF583p.E381K
Missense
SNP
0.272
2--
ZNF585Ap.Q737*
Nonsense
SNP
0.516
2--
ZNF592-
-
-
-
3Gain-
ZNF606p.G536R
p.G480R
p.P6L
Missense
Missense
Missense
SNP
SNP
SNP
0.223
0.584
0.296
2--
ZNF607p.E71K
Missense
SNP
0.494
2--
ZNF609p.A867V
Missense
SNP
0.196
3Gain-
ZNF611p.H500Y
Missense
SNP
0.246
2--
ZNF627-
-
-
-
3Gain-
ZNF638p.S310F
Missense
SNP
0.489
2--
ZNF639-
-
-
-
3Gain-
ZNF644-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF652p.P497L
Missense
SNP
0.313
2--
ZNF653-
-
-
-
3Gain-
ZNF654-
-
-
-
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF667p.H437Y
p.R341K
Missense
Missense
SNP
SNP
0.209
0.243
2--
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF676p.E90K
Missense
SNP
0.494
2--
ZNF678-
-
-
-
3Gain-
ZNF679p.H346Y
Missense
SNP
0.315
2--
ZNF682p.H419Y
Missense
SNP
0.346
2--
ZNF69p.H176Y
Missense
SNP
0.478
2--
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF70-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF708p.H302Y
Missense
SNP
0.214
2--
ZNF710-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF717-
-
-
-
3Gain-
ZNF727p.K165I
Missense
SNP
0.319
2--
ZNF728p.K128*
Nonsense
SNP
0.508
2--
ZNF735p.A177T
Missense
SNP
0.272
2--
ZNF74-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF77p.P163S
Missense
SNP
0.261
2--
ZNF770-
-
-
-
1Loss-
ZNF774-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF80-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804Ap.D333N
Missense
SNP
0.394
2--
ZNF804B-
-
-
-
3Gain-
ZNF812Pp.S263F
Missense
SNP
0.187
NDND-
ZNF816p.H307Y
Missense
SNP
0.214
2--
ZNF821-
-
-
-
1Loss-
ZNF831p.E878K
Missense
SNP
0.269
2--
ZNF84p.S665F
Missense
SNP
0.277
2--
ZNF843p.W73*
Nonsense
SNP
0.262
2--
ZNF845p.H657Y
Missense
SNP
0.517
2--
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF91p.E991K
p.S169L
Missense
Missense
SNP
SNP
0.470
0.190
2--
ZNF92-
-
-
-
3Gain-
ZNF93p.P256L
Missense
SNP
0.158
2--
ZNF99p.E484K
Missense
SNP
0.391
2--
ZNHIT1-
-
-
-
3Gain-
ZNHIT6-
-
-
-
3Gain-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
3Gain-
ZNRF4p.ME134IK
Missense
DNP
0.243
2--
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZPLD1-
-
-
-
3Gain-
ZRANB2-
-
-
-
3Gain-
ZSCAN10p.R560C
Missense
SNP
0.508
2--
ZSCAN18p.S309F
Missense
SNP
0.177
2--
ZSCAN2-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN29-
-
-
-
1Loss-
ZSCAN31p.E144K
Missense
SNP
0.646
2--
ZWILCH-
-
-
-
3Gain-
ZWINT-
-
-
-
1Loss-
ZXDC-
-
-
-
3Gain-
ZYG11Ap.E31K
Missense
SNP
0.257
2--
ZYX-
-
-
-
3Gain-
ZZEF1p.P2771S
Missense
SNP
0.584
2--