PDMR-283228~195-R~A04VW4_RG-Q09-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1LossND
A2Mp.D1441N
Missense
SNP
0.317
2-ND
A3GALT2-
-
-
-
3GainND
AADACp.N298T
Missense
SNP
0.227
2-ND
AADACL3p.G123S
Missense
SNP
0.609
3GainND
AADACL4-
-
-
-
3GainND
AADAT-
-
-
-
3GainND
AAGAB-
-
-
-
3GainND
AARS-
-
-
-
1LossND
AASS-
-
-
-
3GainND
ABCA1p.P1546S
Missense
SNP
0.265
2-ND
ABCA10p.P864L
Missense
SNP
0.688
2-ND
ABCA12p.E2209K
p.R1960Q
p.Q223*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.487
0.234
0.284
2-ND
ABCA13p.A4131V
Missense
SNP
0.354
3GainND
ABCA3p.P72L
Missense
SNP
0.286
2-ND
ABCB1p.G763R
Missense
SNP
0.322
3GainND
ABCB10-
-
-
-
3GainND
ABCB4-
-
-
-
3GainND
ABCB5-
-
-
-
3GainND
ABCB8-
-
-
-
3GainND
ABCC11-
-
-
-
1LossND
ABCC12-
-
-
-
1LossND
ABCC4p.G1053D
Missense
SNP
0.350
2-ND
ABCC8p.S348F
Missense
SNP
0.281
2-ND
ABCE1-
-
-
-
3GainND
ABCF2-
-
-
-
3GainND
ABCG2-
-
-
-
1LossND
ABCG4p.S69F
Missense
SNP
0.329
2-ND
ABHD11-
-
-
-
3GainND
ABHD17C-
-
-
-
3GainND
ABHD18-
-
-
-
3GainND
ABHD2-
-
-
-
3GainND
ABI1-
-
-
-
1LossND
ABL1p.P872L
Missense
SNP
1.000
2-ND
ABL2-
-
-
-
3GainND
ABLIM3p.P11S
Missense
SNP
0.287
2-ND
ABRAXAS1-
-
-
-
1LossND
AC000120.2-
-
-
-
3GainND
AC000120.3-
-
-
-
3GainND
AC004080.3-
-
-
-
3GainND
AC004593.3-
-
-
-
3GainND
AC004691.2-
-
-
-
3GainND
AC004832.3-
-
-
-
3GainND
AC004922.1-
-
-
-
3GainND
AC004997.1-
-
-
-
3GainND
AC005020.2-
-
-
-
3GainND
AC005154.5-
-
-
-
3GainND
AC006978.2-
-
-
-
3GainND
AC007326.4-
-
-
-
3GainND
AC007731.5-
-
-
-
3GainND
AC009119.2-
-
-
-
1LossND
AC009163.2-
-
-
-
1LossND
AC009163.4-
-
-
-
1LossND
AC009690.1-
-
-
-
3GainND
AC009690.3-
-
-
-
3GainND
AC010132.3-
-
-
-
3GainND
AC010531.1-
-
-
-
1LossND
AC010542.3-
-
-
-
1LossND
AC010547.4-
-
-
-
1LossND
AC011005.1-
-
-
-
3GainND
AC011330.3-
-
-
-
0DelND
AC012184.2-
-
-
-
1LossND
AC013394.1-
-
-
-
3GainND
AC013489.1-
-
-
-
3GainND
AC018554.3-
-
-
-
1LossND
AC018709.1-
-
-
-
3GainND
AC019117.2-
-
-
-
3GainND
AC021097.2-
-
-
-
3GainND
AC021097.3-
-
-
-
3GainND
AC025287.4-
-
-
-
1LossND
AC026464.1-
-
-
-
1LossND
AC026464.3-
-
-
-
1LossND
AC026464.4-
-
-
-
1LossND
AC026464.6-
-
-
-
1LossND
AC027644.4-
-
-
-
3GainND
AC040162.1-
-
-
-
1LossND
AC068533.4-
-
-
-
3GainND
AC068831.7-
-
-
-
3GainND
AC069368.1-
-
-
-
3GainND
AC073111.3-
-
-
-
3GainND
AC073111.5-
-
-
-
3GainND
AC074143.1-
-
-
-
1LossND
AC087632.1-
-
-
-
3GainND
AC090517.4-
-
-
-
3GainND
AC091057.6-
-
-
-
3GainND
AC091167.2-
-
-
-
3GainND
AC091167.6-
-
-
-
3GainND
AC091167.7-
-
-
-
3GainND
AC092017.3-
-
-
-
3GainND
AC092143.1-
-
-
-
1LossND
AC092647.5-
-
-
-
3GainND
AC092718.3-
-
-
-
1LossND
AC092718.8-
-
-
-
1LossND
AC093668.1-
-
-
-
3GainND
AC093668.2-
-
-
-
3GainND
AC093668.3-
-
-
-
3GainND
AC093827.5-
-
-
-
1LossND
AC098582.1-
-
-
-
1LossND
AC098588.1-
-
-
-
3GainND
AC104151.1-
-
-
-
1LossND
AC105052.1-
-
-
-
3GainND
AC105052.3-
-
-
-
3GainND
AC107871.1-
-
-
-
3GainND
AC114490.2-
-
-
-
3GainND
AC114490.3-
-
-
-
3GainND
AC115220.1-
-
-
-
3GainND
AC118470.1-
-
-
-
3GainND
AC124312.1-
-
-
-
3GainND
AC126283.2-
-
-
-
1LossND
AC134980.3-
-
-
-
3GainND
AC135068.1-
-
-
-
3GainND
AC135068.3-
-
-
-
3GainND
AC187653.1-
-
-
-
3GainND
AC245033.1-
-
-
-
3GainND
AC253536.7-
-
-
-
3GainND
ACAD9p.S474F
Missense
SNP
0.507
2-ND
ACANp.P228S
Missense
SNP
0.237
3GainND
ACAP3-
-
-
-
3GainND
ACBD3-
-
-
-
3GainND
ACBD5-
-
-
-
1LossND
ACBD6-
-
-
-
3GainND
ACBD7-
-
-
-
1LossND
ACD-
-
-
-
1LossND
ACER2-
-
-
-
0DelND
ACHE-
-
-
-
3GainND
ACKR1-
-
-
-
3GainND
ACO1-
-
-
-
0DelND
ACOT7-
-
-
-
3GainND
ACRV1p.G166D
Missense
SNP
0.333
2-ND
ACSBG1-
-
-
-
3GainND
ACSF3-
-
-
-
1LossND
ACSL1-
-
-
-
3GainND
ACSM1p.V489M
Missense
DNP
0.314
2-ND
ACSM2Ap.S202F
p.P403L
Missense
Missense
SNP
SNP
0.451
0.284
2-ND
ACSM5p.V503I
Missense
SNP
0.562
2-ND
ACTA1-
-
-
-
3GainND
ACTB-
-
-
-
3GainND
ACTBL2-
-
-
-
3GainND
ACTL6B-
-
-
-
3GainND
ACTL8-
-
-
-
3GainND
ACTN2-
-
-
-
3GainND
ACTR3B-
-
-
-
3GainND
ACTR3C-
-
-
-
3GainND
ACTRT2-
-
-
-
3GainND
ADA2-
-
-
-
3GainND
ADAD1-
-
-
-
1LossND
ADAD2-
-
-
-
1LossND
ADAM10-
-
-
-
3GainND
ADAM15-
-
-
-
3GainND
ADAM2p.S440L
Missense
SNP
0.359
2-ND
ADAM20p.Q3*
Nonsense
SNP
0.271
2-ND
ADAM22-
-
-
-
3GainND
ADAM28p.E114K
Missense
SNP
0.354
2-ND
ADAM29-
-
-
-
3GainND
ADAM8-
-
-
-
1LossND
ADAMTS17-
-
-
-
3GainND
ADAMTS18-
-
-
-
1LossND
ADAMTS19p.G560E
Missense
SNP
0.360
2-ND
ADAMTS20p.E23K
Missense
SNP
0.649
2-ND
ADAMTS4-
-
-
-
3GainND
ADAMTS5p.E357K
Missense
SNP
0.678
2-ND
ADAMTS7-
-
-
-
3GainND
ADAMTS9p.S1825F
p.L1609V
Missense
Missense
SNP
SNP
0.500
0.498
2-ND
ADAMTSL1-
-
-
-
0DelND
ADAMTSL3-
-
-
-
3GainND
ADAP1-
-
-
-
3GainND
ADAR-
-
-
-
3GainND
ADARB2-
-
-
-
1LossND
ADAT1-
-
-
-
1LossND
ADCY1-
-
-
-
3GainND
ADCY10-
-
-
-
3GainND
ADCY7-
-
-
-
1LossND
ADCYAP1R1-
-
-
-
3GainND
ADD1p.P413S
Missense
SNP
0.274
3GainND
ADGRA1-
-
-
-
1LossND
ADGRB1p.G297S
Missense
SNP
0.615
2-ND
ADGRE1p.S218L
Missense
SNP
0.195
2-ND
ADGRE3p.G229R
Missense
SNP
0.441
2-ND
ADGRE5p.G436S
Missense
SNP
0.259
2-ND
ADGRG1-
-
-
-
1LossND
ADGRG3-
-
-
-
1LossND
ADGRG5-
-
-
-
1LossND
ADGRL2p.E1081K
p.H1168Y
Missense
Missense
SNP
SNP
0.119
0.439
2-ND
ADGRL4p.V666A
Missense
SNP
0.764
2-ND
ADGRV1p.G8E
p.E230K
p.S3561L
Missense
Missense
Missense
SNP
SNP
SNP
0.261
0.372
0.286
2-ND
ADH1A-
-
-
-
1LossND
ADH1B-
-
-
-
1LossND
ADH1C-
-
-
-
1LossND
ADH4-
-
-
-
1LossND
ADH5-
-
-
-
1LossND
ADH6-
-
-
-
1LossND
ADH7-
-
-
-
1LossND
ADIPOR1-
-
-
-
3GainND
ADORA1-
-
-
-
3GainND
ADORA2A-
-
-
-
3GainND
ADPGK-
-
-
-
3GainND
ADPRHL2-
-
-
-
3GainND
ADSL-
-
-
-
3GainND
ADSS-
-
-
-
3GainND
AEBP1-
-
-
-
3GainND
AEN-
-
-
-
3GainND
AESp.P219L
Missense
SNP
0.259
2-ND
AFF1-
-
-
-
1LossND
AFMIDp.D82N
Missense
SNP
0.312
2-ND
AGA-
-
-
-
3GainND
AGAP3-
-
-
-
3GainND
AGBL1p.P434S
Missense
SNP
0.583
3GainND
AGBL2p.R319C
Missense
SNP
0.283
2-ND
AGFG2-
-
-
-
3GainND
AGMAT-
-
-
-
3GainND
AGMO-
-
-
-
3GainND
AGO1-
-
-
-
3GainND
AGO3-
-
-
-
3GainND
AGO4-
-
-
-
3GainND
AGR2-
-
-
-
3GainND
AGR3-
-
-
-
3GainND
AGRN-
-
-
-
3GainND
AGRP-
-
-
-
1LossND
AGT-
-
-
-
3GainND
AGTRAPp.R57*
Nonsense
SNP
0.599
3GainND
AHCTF1-
-
-
-
3GainND
AHCYL2-
-
-
-
3GainND
AHDC1-
-
-
-
3GainND
AHNAKp.V4219I
Missense
SNP
0.283
2-ND
AHNAK2p.P907L
Missense
SNP
0.388
2-ND
AHR-
-
-
-
3GainND
AIDA-
-
-
-
3GainND
AIFM2p.P101L
Missense
SNP
0.321
2-ND
AIFM3-
-
-
-
3GainND
AIM1p.P746S
Missense
SNP
0.382
NDNDND
AIM2-
-
-
-
3GainND
AIMP1-
-
-
-
1LossND
AIMP2-
-
-
-
3GainND
AJAP1-
-
-
-
3GainND
AK2-
-
-
-
3GainND
AK3-
-
-
-
0DelND
AK5p.P85L
Missense
SNP
0.740
2-ND
AKAP11p.L1170F
Missense
SNP
0.672
2-ND
AKAP13-
-
-
-
3GainND
AKAP6p.S701F
p.S1508L
Missense
Missense
SNP
SNP
0.371
0.271
2-ND
AKAP9p.E679K
Missense
SNP
0.312
3GainND
AKR1C1-
-
-
-
1LossND
AKR1C2-
-
-
-
1LossND
AKR1C3-
-
-
-
1LossND
AKR1C4-
-
-
-
1LossND
AKR1C8P-
-
-
-
1LossND
AKR1E2-
-
-
-
1LossND
AKR7A2-
-
-
-
3GainND
AKR7A3-
-
-
-
3GainND
AKR7L-
-
-
-
3GainND
AKT3-
-
-
-
3GainND
AKTIP-
-
-
-
1LossND
AL020996.2-
-
-
-
3GainND
AL022238.4-
-
-
-
3GainND
AL022318.4-
-
-
-
3GainND
AL031281.2-
-
-
-
3GainND
AL031847.2-
-
-
-
3GainND
AL033529.1-
-
-
-
3GainND
AL080251.1-
-
-
-
3GainND
AL109811.4-
-
-
-
3GainND
AL117339.5-
-
-
-
1LossND
AL117348.2-
-
-
-
3GainND
AL133410.3-
-
-
-
1LossND
AL138752.2-
-
-
-
1LossND
AL139011.2-
-
-
-
3GainND
AL139142.2-
-
-
-
3GainND
AL157392.5-
-
-
-
1LossND
AL162231.1-
-
-
-
0DelND
AL162231.3-
-
-
-
0DelND
AL358472.6-
-
-
-
3GainND
AL358472.7-
-
-
-
3GainND
AL359922.1-
-
-
-
0DelND
AL360181.3-
-
-
-
1LossND
AL512785.2-
-
-
-
3GainND
AL513165.2-
-
-
-
1LossND
AL590132.1-
-
-
-
3GainND
AL591806.3-
-
-
-
3GainND
AL691442.1-
-
-
-
3GainND
AL713999.1-
-
-
-
3GainND
ALDH1A2-
-
-
-
3GainND
ALDH1A3-
-
-
-
3GainND
ALDH1B1-
-
-
-
1LossND
ALDH4A1-
-
-
-
3GainND
ALDH9A1-
-
-
-
3GainND
ALG12-
-
-
-
3GainND
ALG14p.R27C
Missense
SNP
0.264
2-ND
ALKBH4-
-
-
-
3GainND
ALMS1p.Y2095F
Missense
SNP
0.253
2-ND
ALOX12p.W208*
Nonsense
SNP
0.520
2-ND
ALOX5-
-
-
-
1LossND
ALPK1-
-
-
-
1LossND
ALPK3-
-
-
-
3GainND
ALPL-
-
-
-
3GainND
ALS2CR11p.P814S
Missense
SNP
0.445
NDNDND
ALX3p.P42S
Missense
SNP
0.667
2-ND
AMFR-
-
-
-
1LossND
AMPH-
-
-
-
3GainND
AMZ1-
-
-
-
3GainND
ANAPC10-
-
-
-
3GainND
ANAPC2p.D360N
Missense
SNP
0.195
2-ND
ANGEL2-
-
-
-
3GainND
ANGPTL1-
-
-
-
3GainND
ANGPTL7-
-
-
-
3GainND
ANHXp.W98*
Nonsense
SNP
0.500
2-ND
ANK2-
-
-
-
1LossND
ANK3-
-
-
-
1LossND
ANKDD1Ap.L95F
Missense
SNP
0.567
3GainND
ANKHp.R384K
Missense
SNP
0.237
2-ND
ANKIB1-
-
-
-
4GainND
ANKMY2-
-
-
-
3GainND
ANKRD11-
-
-
-
1LossND
ANKRD16-
-
-
-
1LossND
ANKRD18A-
-
-
-
1LossND
ANKRD18Bp.G294R
Missense
SNP
0.312
0DelND
ANKRD20A2-
-
-
-
1LossND
ANKRD26-
-
-
-
1LossND
ANKRD30A-
-
-
-
1LossND
ANKRD34C-
-
-
-
3GainND
ANKRD37-
-
-
-
3GainND
ANKRD45-
-
-
-
3GainND
ANKRD50-
-
-
-
3GainND
ANKRD54-
-
-
-
3GainND
ANKRD55-
-
-
-
3GainND
ANKRD61-
-
-
-
3GainND
ANKRD65-
-
-
-
3GainND
ANKRD7-
-
-
-
3GainND
ANLN-
-
-
-
3GainND
ANO10p.P452S
Missense
SNP
0.479
2-ND
ANO6p.S42F
Missense
SNP
0.372
2-ND
ANP32A-
-
-
-
3GainND
ANPEP-
-
-
-
3GainND
ANTXR2-
-
-
-
1LossND
ANTXRL-
-
-
-
1LossND
ANXA10-
-
-
-
3GainND
ANXA2-
-
-
-
3GainND
ANXA2R-
-
-
-
3GainND
ANXA3-
-
-
-
1LossND
ANXA5-
-
-
-
1LossND
ANXA8-
-
-
-
1LossND
ANXA8L1-
-
-
-
1LossND
AOAH-
-
-
-
3GainND
AOC1-
-
-
-
3GainND
AOX1p.E451K
Missense
SNP
0.299
2-ND
AP000350.4-
-
-
-
3GainND
AP1AR-
-
-
-
1LossND
AP1B1-
-
-
-
3GainND
AP1G1-
-
-
-
1LossND
AP1G2-
-
-
-
1LossND
AP1S1-
-
-
-
3GainND
AP3B2p.D784N
p.X258_splice
Missense
Splice_Site
SNP
SNP
0.137
0.233
3GainND
AP3S2-
-
-
-
3GainND
AP4M1-
-
-
-
3GainND
AP5Z1p.S318F
Missense
SNP
0.177
3GainND
APBA2-
-
-
-
3GainND
APBB1IP-
-
-
-
1LossND
APC2p.E1014K
Missense
SNP
0.240
2-ND
APCS-
-
-
-
3GainND
APH1B-
-
-
-
3GainND
APOA2-
-
-
-
3GainND
APOA5p.R143H
Missense
SNP
0.641
2-ND
APOBp.S3592P
p.K2930N
p.D2730N
Missense
Missense
Missense
SNP
SNP
SNP
0.215
0.241
0.262
2-ND
APOBEC3A-
-
-
-
3GainND
APOBEC3B-
-
-
-
3GainND
APOBEC3C-
-
-
-
3GainND
APOBEC3D-
-
-
-
3GainND
APOBEC3F-
-
-
-
3GainND
APOBEC3G-
-
-
-
3GainND
APOBEC3H-
-
-
-
3GainND
APOBEC4-
-
-
-
3GainND
APOBRp.G635E
Missense
SNP
0.419
2-ND
APOL1-
-
-
-
3GainND
APOL2-
-
-
-
3GainND
APOL3-
-
-
-
3GainND
APOL4-
-
-
-
3GainND
APOL5-
-
-
-
3GainND
APOL6-
-
-
-
3GainND
APPp.R747C
Missense
SNP
0.299
2-ND
APRT-
-
-
-
1LossND
APTX-
-
-
-
0DelND
AQP1-
-
-
-
3GainND
AQP10-
-
-
-
3GainND
AQP3-
-
-
-
0DelND
AQP7-
-
-
-
0DelND
AQP9-
-
-
-
3GainND
ARF1-
-
-
-
3GainND
ARF5-
-
-
-
3GainND
ARFIP1-
-
-
-
1LossND
ARHGAP10-
-
-
-
3GainND
ARHGAP11B-
-
-
-
3GainND
ARHGAP12-
-
-
-
1LossND
ARHGAP21-
-
-
-
1LossND
ARHGAP22-
-
-
-
1LossND
ARHGAP24-
-
-
-
1LossND
ARHGAP26p.S353L
Missense
SNP
0.274
2-ND
ARHGAP29p.N405Y
Missense
SNP
0.634
2-ND
ARHGAP30-
-
-
-
3GainND
ARHGAP31p.P608S
Missense
SNP
0.342
2-ND
ARHGEF10L-
-
-
-
3GainND
ARHGEF11-
-
-
-
3GainND
ARHGEF15p.P78L
Missense
SNP
0.438
2-ND
ARHGEF16-
-
-
-
3GainND
ARHGEF19-
-
-
-
3GainND
ARHGEF2-
-
-
-
3GainND
ARHGEF38-
-
-
-
1LossND
ARHGEF39-
-
-
-
1LossND
ARID1Ap.S1091C
p.Q1200*
Missense
Nonsense
SNP
SNP
0.352
0.635
3GainND
ARID3B-
-
-
-
3GainND
ARID3C-
-
-
-
0DelND
ARID4B-
-
-
-
3GainND
ARIH1-
-
-
-
3GainND
ARL15-
-
-
-
3GainND
ARL2BP-
-
-
-
1LossND
ARL4A-
-
-
-
3GainND
ARL5B-
-
-
-
1LossND
ARL8A-
-
-
-
3GainND
ARMC10-
-
-
-
3GainND
ARMC3-
-
-
-
1LossND
ARMC4-
-
-
-
1LossND
ARMCX4p.P1390L
Missense
SNP
0.436
NDNDND
ARNT2-
-
-
-
3GainND
ARPC1A-
-
-
-
3GainND
ARPC1B-
-
-
-
3GainND
ARPC5-
-
-
-
3GainND
ARPIN-
-
-
-
3GainND
ARPP19-
-
-
-
3GainND
ARPP21p.S76F
p.K127*
Missense
Nonsense
SNP
SNP
0.276
0.483
2-ND
ARRDC4p.Q234L
Missense
SNP
0.594
3GainND
ARSBp.P523S
Missense
SNP
0.746
2-ND
ARSFp.A184V
Missense
SNP
1.000
NDNDND
ARSJ-
-
-
-
1LossND
ART1p.G237E
Missense
SNP
0.671
2-ND
ART3-
-
-
-
1LossND
ARV1-
-
-
-
3GainND
ARVCF-
-
-
-
3GainND
ASAH2-
-
-
-
1LossND
ASAH2B-
-
-
-
1LossND
ASAP3p.P811S
p.P127L
Missense
Missense
SNP
SNP
0.413
0.200
3GainND
ASB10-
-
-
-
3GainND
ASB13-
-
-
-
1LossND
ASB15-
-
-
-
3GainND
ASB4-
-
-
-
3GainND
ASB5-
-
-
-
3GainND
ASB7-
-
-
-
3GainND
ASCC2-
-
-
-
3GainND
ASCC3p.H1336Y
Missense
SNP
0.347
2-ND
ASH1L-
-
-
-
3GainND
ASIC3-
-
-
-
3GainND
ASIC5-
-
-
-
3GainND
ASL-
-
-
-
3GainND
ASNA1p.S231T
Missense
SNP
0.470
2-ND
ASNS-
-
-
-
3GainND
ASPDHp.G279E
Missense
SNP
0.258
2-ND
ASPHD2-
-
-
-
3GainND
ASPM-
-
-
-
3GainND
ASTN1p.E502K
Missense
SNP
0.429
3GainND
ASXL2p.P963S
Missense
SNP
0.518
2-ND
ASZ1-
-
-
-
3GainND
ATAD3A-
-
-
-
3GainND
ATAD3B-
-
-
-
3GainND
ATAD3C-
-
-
-
3GainND
ATF3-
-
-
-
3GainND
ATF4-
-
-
-
3GainND
ATF6-
-
-
-
3GainND
ATF6Bp.P263S
Missense
SNP
0.275
2-ND
ATF7IPp.S752T
Missense
SNP
0.717
2-ND
ATG9B-
-
-
-
3GainND
ATMIN-
-
-
-
1LossND
ATOH1-
-
-
-
1LossND
ATP10A-
-
-
-
3GainND
ATP13A2-
-
-
-
3GainND
ATP13A5p.D397N
Missense
SNP
0.568
2-ND
ATP1A2-
-
-
-
3GainND
ATP1A4-
-
-
-
3GainND
ATP1B1-
-
-
-
3GainND
ATP2B2p.R777Q
Missense
SNP
0.515
2-ND
ATP2B4p.P113S
Missense
SNP
0.283
3GainND
ATP2C2-
-
-
-
1LossND
ATP4Ap.E902K
Missense
SNP
0.239
2-ND
ATP5F1C-
-
-
-
1LossND
ATP5IF1-
-
-
-
3GainND
ATP5MF-
-
-
-
3GainND
ATP5MF-PTCD1-
-
-
-
3GainND
ATP6V0D1-
-
-
-
1LossND
ATP6V0E2-
-
-
-
3GainND
ATP6V1E1-
-
-
-
3GainND
ATP6V1E2p.E61K
Missense
SNP
0.545
2-ND
ATP6V1F-
-
-
-
3GainND
ATP6V1FNB-
-
-
-
3GainND
ATP6V1G3-
-
-
-
3GainND
ATP8B2-
-
-
-
3GainND
ATP8B4p.E587K
Missense
SNP
1.000
2-ND
ATRNp.Q1218*
Nonsense
DNP
0.408
2-ND
ATXN10-
-
-
-
3GainND
ATXN1L-
-
-
-
1LossND
ATXN3Lp.L325H
Missense
SNP
1.000
NDNDND
ATXN7p.P656L
Missense
DNP
0.527
2-ND
ATXN7L1-
-
-
-
3GainND
AUNIP-
-
-
-
3GainND
AURKAIP1-
-
-
-
3GainND
AUTS2-
-
-
-
3GainND
AVL9-
-
-
-
3GainND
AVPR1B-
-
-
-
3GainND
AXDND1-
-
-
-
3GainND
AXIN2p.P710S
Missense
SNP
0.415
2-ND
AZGP1-
-
-
-
3GainND
AZIN2-
-
-
-
3GainND
B3GALNT2-
-
-
-
3GainND
B3GALT1p.R199Q
Missense
SNP
0.288
2-ND
B3GALT2-
-
-
-
3GainND
B3GALT6-
-
-
-
3GainND
B3GNT2p.E64K
Missense
SNP
0.417
2-ND
B3GNT9-
-
-
-
1LossND
B4GALT1-
-
-
-
0DelND
B4GALT3-
-
-
-
3GainND
B4GALT6p.P104S
Missense
SNP
0.272
2-ND
BAG1-
-
-
-
0DelND
BAIAP2L1-
-
-
-
3GainND
BAIAP2L2-
-
-
-
3GainND
BAMBI-
-
-
-
1LossND
BANK1-
-
-
-
1LossND
BANP-
-
-
-
1LossND
BAP1p.Q253*
Nonsense
SNP
0.253
2-ND
BASP1-
-
-
-
3GainND
BATF3-
-
-
-
3GainND
BAZ1B-
-
-
-
3GainND
BBS12-
-
-
-
1LossND
BBS2-
-
-
-
1LossND
BBS4-
-
-
-
3GainND
BBS7-
-
-
-
1LossND
BBS9-
-
-
-
3GainND
BCAN-
-
-
-
3GainND
BCAP29-
-
-
-
3GainND
BCAR1-
-
-
-
1LossND
BCL2A1-
-
-
-
3GainND
BCL2L13-
-
-
-
3GainND
BCL2L2-
-
-
-
1LossND
BCL2L2-PABPN1-
-
-
-
1LossND
BCL7B-
-
-
-
3GainND
BCO1-
-
-
-
1LossND
BCR-
-
-
-
3GainND
BDH2-
-
-
-
1LossND
BEAN1-
-
-
-
1LossND
BEND7-
-
-
-
1LossND
BET1-
-
-
-
4GainND
BFARp.T316I
Missense
SNP
0.649
2-ND
BGLAP-
-
-
-
3GainND
BHLHA15-
-
-
-
3GainND
BHMG1p.G215E
Missense
SNP
0.221
2-ND
BICC1-
-
-
-
1LossND
BID-
-
-
-
3GainND
BLM-
-
-
-
3GainND
BLVRA-
-
-
-
3GainND
BLZF1-
-
-
-
3GainND
BMI1-
-
-
-
1LossND
BMP2K-
-
-
-
1LossND
BMP3p.S83L
Missense
SNP
1.000
1LossND
BMPERp.W417*
Nonsense
SNP
0.511
3GainND
BMPR1B-
-
-
-
1LossND
BMS1-
-
-
-
1LossND
BMT2-
-
-
-
3GainND
BNC1p.P603L
p.D462N
Missense
Missense
SNP
SNP
0.552
0.214
3GainND
BNC2-
-
-
-
0DelND
BNIP2-
-
-
-
3GainND
BNIP3-
-
-
-
1LossND
BOP1p.G712R
Missense
SNP
0.216
1LossND
BORCS8-MEF2Bp.S355F
Missense
SNP
0.432
2-ND
BPIFCp.T377I
Missense
SNP
0.626
3GainND
BPNT1-
-
-
-
3GainND
BRAT1-
-
-
-
3GainND
BRD1-
-
-
-
3GainND
BRD7-
-
-
-
1LossND
BRI3-
-
-
-
3GainND
BRICD5p.R135Q
Missense
DNP
0.613
2-ND
BRINP2p.P611S
Missense
SNP
0.811
3GainND
BRINP3-
-
-
-
3GainND
BROX-
-
-
-
3GainND
BRWD3p.S1284L
Missense
SNP
0.467
NDNDND
BSDC1-
-
-
-
3GainND
BTBD1p.H174Y
Missense
SNP
0.255
3GainND
BTG2-
-
-
-
3GainND
BTNL3p.G245S
Missense
SNP
1.000
0DelND
BTNL9-
-
-
-
1LossND
BUB1Bp.P301S
Missense
SNP
1.000
2-ND
BUD23-
-
-
-
3GainND
BUD31-
-
-
-
3GainND
BZW2p.R62C
Missense
SNP
0.609
3GainND
C10orf113-
-
-
-
1LossND
C10orf53-
-
-
-
1LossND
C10orf67-
-
-
-
1LossND
C10orf71-
-
-
-
1LossND
C11orf63p.P395S
Missense
SNP
0.662
NDNDND
C11orf91p.P105L
Missense
SNP
0.302
2-ND
C12orf40p.E606K
Missense
SNP
0.335
2-ND
C14orf119-
-
-
-
1LossND
C14orf159p.P601S
Missense
SNP
0.372
NDNDND
C15orf38-AP3S2-
-
-
-
3GainND
C15orf39-
-
-
-
3GainND
C15orf40-
-
-
-
3GainND
C15orf59p.P256L
Missense
SNP
0.230
NDNDND
C15orf61-
-
-
-
3GainND
C15orf65-
-
-
-
3GainND
C16orf46-
-
-
-
1LossND
C16orf70-
-
-
-
1LossND
C16orf71p.P287L
Missense
SNP
0.518
2-ND
C16orf74-
-
-
-
1LossND
C16orf78-
-
-
-
1LossND
C16orf86-
-
-
-
1LossND
C16orf87-
-
-
-
1LossND
C16orf95-
-
-
-
1LossND
C19orf25p.P52L
Missense
SNP
0.644
2-ND
C1GALT1-
-
-
-
3GainND
C1orf100-
-
-
-
3GainND
C1orf105-
-
-
-
3GainND
C1orf112-
-
-
-
3GainND
C1orf115-
-
-
-
3GainND
C1orf116-
-
-
-
3GainND
C1orf127-
-
-
-
3GainND
C1orf131-
-
-
-
3GainND
C1orf158p.E178K
Missense
SNP
0.619
3GainND
C1orf159-
-
-
-
3GainND
C1orf167-
-
-
-
3GainND
C1orf174p.R4W
Missense
DNP
0.245
3GainND
C1orf189-
-
-
-
3GainND
C1orf198-
-
-
-
3GainND
C1orf21-
-
-
-
3GainND
C1orf216-
-
-
-
3GainND
C1orf226-
-
-
-
3GainND
C1orf35-
-
-
-
3GainND
C1orf43-
-
-
-
3GainND
C1orf53-
-
-
-
3GainND
C1orf61-
-
-
-
3GainND
C1orf74-
-
-
-
3GainND
C1orf94-
-
-
-
3GainND
C1QA-
-
-
-
3GainND
C1QB-
-
-
-
3GainND
C1QC-
-
-
-
3GainND
C1QL3-
-
-
-
1LossND
C1QTNF12-
-
-
-
3GainND
C1QTNF6-
-
-
-
3GainND
C22orf15-
-
-
-
3GainND
C22orf23-
-
-
-
3GainND
C22orf31-
-
-
-
3GainND
C22orf39-
-
-
-
3GainND
C22orf42-
-
-
-
3GainND
C2CD4A-
-
-
-
3GainND
C2CD4B-
-
-
-
3GainND
C2orf71p.P1087S
p.A814V
Missense
Missense
SNP
SNP
0.264
0.514
NDNDND
C3p.M83I
Missense
SNP
0.211
2-ND
C4B-
-
-
-
1LossND
C4BPA-
-
-
-
3GainND
C4BPB-
-
-
-
3GainND
C4orf17-
-
-
-
1LossND
C4orf22p.G87D
Missense
SNP
1.000
NDNDND
C4orf3-
-
-
-
1LossND
C4orf33-
-
-
-
3GainND
C4orf36-
-
-
-
1LossND
C4orf45-
-
-
-
3GainND
C4orf46-
-
-
-
3GainND
C4orf47-
-
-
-
3GainND
C4orf51-
-
-
-
3GainND
C4orf54-
-
-
-
1LossND
C5orf22-
-
-
-
3GainND
C5orf34-
-
-
-
3GainND
C5orf51-
-
-
-
3GainND
C5orf67-
-
-
-
3GainND
C6p.G915E
Missense
SNP
0.155
3GainND
C6orf136p.Y445C
Missense
SNP
0.379
2-ND
C6orf15p.L199F
Missense
SNP
0.631
2-ND
C6orf203p.P73S
Missense
SNP
0.636
2-ND
C7-
-
-
-
3GainND
C7orf25-
-
-
-
3GainND
C7orf26p.Q138*
Nonsense
SNP
0.724
3GainND
C7orf31-
-
-
-
3GainND
C7orf33-
-
-
-
3GainND
C7orf43p.P143L
Missense
SNP
0.458
3GainND
C7orf50-
-
-
-
3GainND
C7orf57-
-
-
-
3GainND
C7orf61p.P79L
Missense
SNP
0.495
3GainND
C7orf77-
-
-
-
3GainND
C8orf74p.E165K
Missense
SNP
0.273
2-ND
C9p.S263F
Missense
SNP
0.250
3GainND
C9orf131-
-
-
-
1LossND
C9orf24-
-
-
-
0DelND
C9orf66-
-
-
-
0DelND
C9orf72-
-
-
-
0DelND
C9orf92-
-
-
-
0DelND
CA12-
-
-
-
3GainND
CA5A-
-
-
-
1LossND
CA6-
-
-
-
3GainND
CA7-
-
-
-
1LossND
CA9-
-
-
-
1LossND
CAAP1-
-
-
-
0DelND
CABIN1-
-
-
-
3GainND
CABLES2p.G447R
Missense
SNP
0.475
2-ND
CABP7-
-
-
-
3GainND
CACNA1Ep.P1940L
Missense
SNP
0.805
3GainND
CACNA1I-
-
-
-
3GainND
CACNA1S-
-
-
-
3GainND
CACNA2D1-
-
-
-
4GainND
CACNA2D4p.R781K
p.P22S
Missense
Missense
SNP
SNP
0.320
0.292
2-ND
CACNB2-
-
-
-
1LossND
CACNG2-
-
-
-
3GainND
CACYBP-
-
-
-
3GainND
CADp.T508I
Missense
SNP
0.185
2-ND
CADM3-
-
-
-
3GainND
CADPSp.E1168K
Missense
SNP
0.264
2-ND
CADPS2-
-
-
-
3GainND
CAGE1p.G715R
Missense
SNP
0.682
2-ND
CALB1p.G245E
Missense
SNP
0.193
2-ND
CALB2-
-
-
-
1LossND
CALCR-
-
-
-
4GainND
CALML3-
-
-
-
1LossND
CALML4-
-
-
-
3GainND
CALML5-
-
-
-
1LossND
CALML6-
-
-
-
3GainND
CALN1-
-
-
-
3GainND
CALU-
-
-
-
3GainND
CALY-
-
-
-
1LossND
CAMK1p.D170N
Missense
SNP
0.517
2-ND
CAMK1D-
-
-
-
1LossND
CAMK1G-
-
-
-
3GainND
CAMK2B-
-
-
-
3GainND
CAMK2D-
-
-
-
1LossND
CAMK2N1-
-
-
-
3GainND
CAMKMTp.P314S
Missense
SNP
0.482
2-ND
CAMSAP2-
-
-
-
3GainND
CAMTA1-
-
-
-
3GainND
CAMTA2p.P888S
Missense
SNP
0.230
2-ND
CAND1p.A1176V
Missense
SNP
0.650
2-ND
CAPN1p.S622F
Missense
SNP
0.672
2-ND
CAPN2-
-
-
-
3GainND
CAPN8-
-
-
-
3GainND
CAPN9-
-
-
-
3GainND
CAPNS2-
-
-
-
1LossND
CAPZA2-
-
-
-
3GainND
CAPZB-
-
-
-
3GainND
CARD10p.P816S
Missense
SNP
0.592
3GainND
CARD11-
-
-
-
3GainND
CARD6-
-
-
-
3GainND
CARMIL2-
-
-
-
1LossND
CARMIL3-
-
-
-
1LossND
CASC10-
-
-
-
1LossND
CASD1-
-
-
-
4GainND
CASP3-
-
-
-
3GainND
CASP6-
-
-
-
1LossND
CASP7p.P141S
Missense
SNP
1.000
2-ND
CASP9-
-
-
-
3GainND
CASQ1p.G296S
Missense
SNP
0.129
3GainND
CASTOR1-
-
-
-
3GainND
CASTOR2-
-
-
-
3GainND
CASTOR3-
-
-
-
3GainND
CASZ1p.P982L
Missense
SNP
0.432
3GainND
CATSPER2-
-
-
-
0DelND
CATSPER3p.N112S
Missense
SNP
0.269
2-ND
CATSPER4-
-
-
-
3GainND
CATSPERE-
-
-
-
3GainND
CAV1-
-
-
-
3GainND
CAV2p.X113_splice
Splice_Site
SNP
0.306
3GainND
CBFA2T2p.P410L
Missense
SNP
0.333
2-ND
CBFA2T3-
-
-
-
1LossND
CBFB-
-
-
-
1LossND
CBLL1-
-
-
-
3GainND
CBLN1-
-
-
-
1LossND
CBR4-
-
-
-
3GainND
CBWD1-
-
-
-
0DelND
CBX3-
-
-
-
3GainND
CBX6-
-
-
-
3GainND
CBX7-
-
-
-
3GainND
CBY1-
-
-
-
3GainND
CCDC102A-
-
-
-
1LossND
CCDC107-
-
-
-
1LossND
CCDC110-
-
-
-
3GainND
CCDC113-
-
-
-
1LossND
CCDC116-
-
-
-
3GainND
CCDC117-
-
-
-
3GainND
CCDC126-
-
-
-
3GainND
CCDC13p.E103K
Missense
SNP
0.240
2-ND
CCDC136-
-
-
-
3GainND
CCDC146-
-
-
-
4GainND
CCDC152-
-
-
-
3GainND
CCDC157-
-
-
-
3GainND
CCDC158-
-
-
-
1LossND
CCDC168p.L5698F
Missense
SNP
0.293
2-ND
CCDC171-
-
-
-
0DelND
CCDC181-
-
-
-
3GainND
CCDC185-
-
-
-
3GainND
CCDC188-
-
-
-
3GainND
CCDC190-
-
-
-
3GainND
CCDC27-
-
-
-
3GainND
CCDC28B-
-
-
-
3GainND
CCDC3-
-
-
-
1LossND
CCDC33-
-
-
-
3GainND
CCDC39p.N53I
Missense
SNP
0.179
2-ND
CCDC6-
-
-
-
1LossND
CCDC62-
-
-
-
5AmpND
CCDC7-
-
-
-
1LossND
CCDC71L-
-
-
-
3GainND
CCDC73p.E410K
Missense
SNP
0.262
2-ND
CCDC77p.A151V
Missense
SNP
0.315
2-ND
CCDC80p.R87C
Missense
SNP
0.521
2-ND
CCDC85Ap.P538L
Missense
SNP
0.238
2-ND
CCIN-
-
-
-
1LossND
CCL17-
-
-
-
1LossND
CCL19-
-
-
-
0DelND
CCL21-
-
-
-
0DelND
CCL22-
-
-
-
1LossND
CCL24-
-
-
-
3GainND
CCL26-
-
-
-
3GainND
CCL27-
-
-
-
0DelND
CCL28-
-
-
-
3GainND
CCM2-
-
-
-
3GainND
CCNA1p.G62D
Missense
SNP
0.515
2-ND
CCNA2-
-
-
-
1LossND
CCNB2-
-
-
-
3GainND
CCNG2-
-
-
-
1LossND
CCNI-
-
-
-
1LossND
CCNL2-
-
-
-
3GainND
CCNO-
-
-
-
3GainND
CCNY-
-
-
-
1LossND
CCPG1-
-
-
-
3GainND
CCR2p.L92F
Missense
SNP
0.204
2-ND
CCSAP-
-
-
-
3GainND
CCSER1-
-
-
-
1LossND
CCT2p.P300S
Missense
SNP
0.319
2-ND
CCT3-
-
-
-
3GainND
CCT6A-
-
-
-
3GainND
CCT7p.H73Y
Missense
SNP
0.426
2-ND
CCT8L2-
-
-
-
3GainND
CCZ1-
-
-
-
3GainND
CCZ1B-
-
-
-
3GainND
CD163p.V1059A
p.S696L
Missense
Missense
SNP
SNP
0.243
0.306
2-ND
CD163L1p.G711E
p.A222V
Missense
Missense
SNP
SNP
0.648
0.655
2-ND
CD164L2-
-
-
-
3GainND
CD1A-
-
-
-
3GainND
CD1B-
-
-
-
3GainND
CD1C-
-
-
-
3GainND
CD1D-
-
-
-
3GainND
CD1E-
-
-
-
3GainND
CD200R1p.E98K
Missense
SNP
0.287
2-ND
CD244-
-
-
-
3GainND
CD247-
-
-
-
3GainND
CD248p.G219R
Missense
SNP
0.644
2-ND
CD274-
-
-
-
0DelND
CD276-
-
-
-
3GainND
CD300LGp.E277K
Missense
SNP
0.323
2-ND
CD34-
-
-
-
3GainND
CD36-
-
-
-
4GainND
CD38p.S274F
Missense
SNP
0.488
2-ND
CD46-
-
-
-
3GainND
CD48-
-
-
-
3GainND
CD52-
-
-
-
3GainND
CD55-
-
-
-
3GainND
CD5L-
-
-
-
3GainND
CD69p.R134Q
Missense
SNP
0.300
2-ND
CD72-
-
-
-
1LossND
CD84p.D297N
Missense
SNP
0.799
3GainND
CDA-
-
-
-
3GainND
CDC123-
-
-
-
1LossND
CDC14Ap.R345*
Nonsense
SNP
0.260
2-ND
CDC14C-
-
-
-
3GainND
CDC20B-
-
-
-
3GainND
CDC37L1-
-
-
-
0DelND
CDC42-
-
-
-
3GainND
CDC42BPA-
-
-
-
3GainND
CDC42EP1-
-
-
-
3GainND
CDC45-
-
-
-
3GainND
CDC73-
-
-
-
3GainND
CDCA7L-
-
-
-
3GainND
CDH1-
-
-
-
1LossND
CDH10p.N133T
Missense
SNP
0.241
3GainND
CDH11-
-
-
-
1LossND
CDH12-
-
-
-
3GainND
CDH13-
-
-
-
1LossND
CDH15-
-
-
-
1LossND
CDH16p.L459F
Missense
DNP
1.000
1LossND
CDH17p.G770E
Missense
SNP
0.202
2-ND
CDH18-
-
-
-
3GainND
CDH22p.S605F
Missense
SNP
0.477
2-ND
CDH3-
-
-
-
1LossND
CDH5-
-
-
-
1LossND
CDH6p.D294N
p.R429K
Missense
Missense
SNP
SNP
0.504
0.198
3GainND
CDH8-
-
-
-
1LossND
CDH9-
-
-
-
3GainND
CDHR2p.X256_splice
Splice_Site
SNP
0.595
2-ND
CDHR3-
-
-
-
3GainND
CDK1-
-
-
-
1LossND
CDK10-
-
-
-
1LossND
CDK11A-
-
-
-
3GainND
CDK11B-
-
-
-
3GainND
CDK13-
-
-
-
3GainND
CDK14p.H361Y
Missense
SNP
0.171
3GainND
CDK18-
-
-
-
3GainND
CDK5-
-
-
-
3GainND
CDK5RAP2p.S245F
Missense
SNP
0.995
2-ND
CDK6-
-
-
-
4GainND
CDKL2-
-
-
-
1LossND
CDKN2A-
-
-
-
0DelND
CDKN2AIP-
-
-
-
3GainND
CDKN2B-
-
-
-
0DelND
CDNF-
-
-
-
1LossND
CDONp.R1115*
Nonsense
SNP
0.261
2-ND
CDPF1-
-
-
-
3GainND
CDR1p.ED131DN
p.D122N
Missense
Missense
DNP
SNP
0.440
0.997
NDNDND
CDS1-
-
-
-
1LossND
CDT1-
-
-
-
1LossND
CDYL2-
-
-
-
1LossND
CEACAM16p.G340D
Missense
SNP
0.329
2-ND
CEBPE-
-
-
-
1LossND
CECR2p.E95K
Missense
SNP
0.208
3GainND
CELA2A-
-
-
-
3GainND
CELA2B-
-
-
-
3GainND
CELA3A-
-
-
-
3GainND
CELA3B-
-
-
-
3GainND
CELF2-
-
-
-
1LossND
CELF6p.Q155*
Nonsense
SNP
0.310
3GainND
CELSR1-
-
-
-
3GainND
CELSR2p.W112*
Nonsense
DNP
0.705
2-ND
CEMIP-
-
-
-
3GainND
CENPBD1-
-
-
-
1LossND
CENPE-
-
-
-
1LossND
CENPF-
-
-
-
3GainND
CENPL-
-
-
-
3GainND
CENPN-
-
-
-
1LossND
CENPS-
-
-
-
3GainND
CENPS-CORT-
-
-
-
3GainND
CENPT-
-
-
-
1LossND
CENPU-
-
-
-
3GainND
CEP104p.R55Q
Missense
SNP
0.454
3GainND
CEP112p.P218S
Missense
SNP
0.417
2-ND
CEP128p.R1005C
Missense
SNP
0.630
2-ND
CEP162p.E623K
Missense
SNP
0.274
2-ND
CEP170-
-
-
-
3GainND
CEP170Bp.S291F
Missense
SNP
0.254
2-ND
CEP295p.S1302L
Missense
SNP
0.304
2-ND
CEP350p.S1256F
Missense
SNP
0.844
3GainND
CEP41-
-
-
-
3GainND
CEP44-
-
-
-
3GainND
CEP85-
-
-
-
3GainND
CER1p.K141T
Missense
SNP
1.000
0DelND
CERK-
-
-
-
3GainND
CERS3-
-
-
-
3GainND
CES1-
-
-
-
1LossND
CES2-
-
-
-
1LossND
CES3-
-
-
-
1LossND
CES4A-
-
-
-
1LossND
CES5A-
-
-
-
1LossND
CETN1p.D116N
Missense
SNP
0.475
2-ND
CETP-
-
-
-
1LossND
CFAP126-
-
-
-
3GainND
CFAP161-
-
-
-
3GainND
CFAP20-
-
-
-
1LossND
CFAP299-
-
-
-
1LossND
CFAP45-
-
-
-
3GainND
CFAP46-
-
-
-
1LossND
CFAP54p.C1127G
p.K2152E
Missense
Missense
SNP
SNP
0.644
0.831
2-ND
CFAP57p.G639D
Missense
SNP
0.245
2-ND
CFAP69p.I318V
Missense
SNP
0.140
3GainND
CFAP74-
-
-
-
3GainND
CFAP97-
-
-
-
3GainND
CFAP99p.E189K
p.E251K
Missense
Missense
SNP
SNP
0.249
0.221
2-ND
CFDP1-
-
-
-
1LossND
CFH-
-
-
-
3GainND
CFHR1-
-
-
-
3GainND
CFHR2-
-
-
-
3GainND
CFHR3-
-
-
-
3GainND
CFHR4p.G531E
Missense
SNP
0.803
3GainND
CFHR5-
-
-
-
3GainND
CFIp.R339Q
Missense
SNP
1.000
1LossND
CFTRp.P676S
Missense
SNP
0.629
3GainND
CGNL1-
-
-
-
3GainND
CHAT-
-
-
-
1LossND
CHCHD10-
-
-
-
3GainND
CHCHD2-
-
-
-
3GainND
CHD1p.H1557Y
Missense
SNP
0.274
NDNDND
CHD2-
-
-
-
3GainND
CHD5-
-
-
-
3GainND
CHD7p.S2865L
Missense
SNP
0.245
2-ND
CHD9-
-
-
-
1LossND
CHEK2-
-
-
-
3GainND
CHI3L1-
-
-
-
3GainND
CHIT1p.V197L
Missense
SNP
0.170
3GainND
CHML-
-
-
-
3GainND
CHMP1A-
-
-
-
1LossND
CHMP5-
-
-
-
0DelND
CHN2-
-
-
-
3GainND
CHPF2-
-
-
-
3GainND
CHRDp.P801L
Missense
SNP
0.449
2-ND
CHRFAM7A-
-
-
-
3GainND
CHRM3-
-
-
-
3GainND
CHRNA2p.E28K
Missense
SNP
0.379
2-ND
CHRNA3-
-
-
-
3GainND
CHRNA5-
-
-
-
3GainND
CHRNB2-
-
-
-
3GainND
CHRNB3p.M304I
Missense
SNP
0.350
2-ND
CHRNB4-
-
-
-
3GainND
CHRNDp.P152L
Missense
SNP
0.288
2-ND
CHST12p.P365S
Missense
SNP
0.336
3GainND
CHST4-
-
-
-
1LossND
CHST5-
-
-
-
1LossND
CHST6-
-
-
-
1LossND
CHSY1-
-
-
-
3GainND
CHSY3p.H837Y
Missense
SNP
0.268
2-ND
CHTF8-
-
-
-
1LossND
CHTOP-
-
-
-
3GainND
CIAO2A-
-
-
-
3GainND
CIAO2B-
-
-
-
1LossND
CIAPIN1-
-
-
-
1LossND
CIB1-
-
-
-
3GainND
CIB2-
-
-
-
3GainND
CILP-
-
-
-
3GainND
CISD1-
-
-
-
1LossND
CISD2-
-
-
-
1LossND
CIZ1p.P194S
Missense
SNP
0.714
2-ND
CKLF-
-
-
-
1LossND
CKLF-CMTM1-
-
-
-
1LossND
CKMT1A-
-
-
-
0DelND
CKMT1B-
-
-
-
1LossND
CKS1B-
-
-
-
3GainND
CLCN2p.Y553C
Missense
SNP
0.503
2-ND
CLCN3-
-
-
-
3GainND
CLCN6-
-
-
-
3GainND
CLCNKAp.E3K
Missense
SNP
0.356
3GainND
CLCNKBp.G23N
Missense
DNP
0.712
3GainND
CLDN12-
-
-
-
3GainND
CLDN14p.M18I
Missense
SNP
0.359
2-ND
CLDN15-
-
-
-
3GainND
CLDN22-
-
-
-
3GainND
CLDN24-
-
-
-
3GainND
CLDN3-
-
-
-
3GainND
CLDN4p.V100M
Missense
SNP
0.354
3GainND
CLDN5-
-
-
-
3GainND
CLDN6p.L174*
p.L173F
Nonsense
Missense
SNP
SNP
0.402
0.416
2-ND
CLEC16Ap.S53F
Missense
SNP
0.544
2-ND
CLEC18A-
-
-
-
1LossND
CLEC18B-
-
-
-
1LossND
CLEC18C-
-
-
-
1LossND
CLEC3A-
-
-
-
1LossND
CLGN-
-
-
-
3GainND
CLIC4-
-
-
-
3GainND
CLIP2-
-
-
-
4GainND
CLK2-
-
-
-
3GainND
CLK3-
-
-
-
3GainND
CLN6-
-
-
-
3GainND
CLPX-
-
-
-
3GainND
CLSPN-
-
-
-
3GainND
CLSTN1-
-
-
-
3GainND
CLTA-
-
-
-
1LossND
CLTCL1-
-
-
-
3GainND
CLVS2p.D93N
Missense
SNP
0.683
2-ND
CMA1p.E21V
Missense
SNP
0.517
2-ND
CMC2-
-
-
-
1LossND
CMIPp.S349F
Missense
SNP
0.497
1LossND
CMKLR1p.P313S
Missense
SNP
0.404
2-ND
CMTM1-
-
-
-
1LossND
CMTM2-
-
-
-
1LossND
CMTM3-
-
-
-
1LossND
CMTM4-
-
-
-
1LossND
CMTM5-
-
-
-
1LossND
CMTR2-
-
-
-
1LossND
CNBD1p.T143A
Missense
SNP
0.484
2-ND
CNEP1R1-
-
-
-
1LossND
CNGA2p.D555N
Missense
SNP
0.462
NDNDND
CNGB1-
-
-
-
1LossND
CNIH3-
-
-
-
3GainND
CNIH4-
-
-
-
3GainND
CNKSR1-
-
-
-
3GainND
CNOT1-
-
-
-
1LossND
CNOT2p.T93I
Missense
SNP
0.630
2-ND
CNOT6L-
-
-
-
1LossND
CNPY1-
-
-
-
3GainND
CNPY4-
-
-
-
3GainND
CNR2-
-
-
-
3GainND
CNST-
-
-
-
3GainND
CNTFR-
-
-
-
0DelND
CNTLN-
-
-
-
0DelND
CNTN2-
-
-
-
3GainND
CNTN4p.D217N
Missense
SNP
0.256
2-ND
CNTNAP1p.S584F
Missense
SNP
0.286
2-ND
CNTNAP2-
-
-
-
3GainND
CNTNAP3-
-
-
-
1LossND
CNTNAP3B-
-
-
-
1LossND
CNTNAP4-
-
-
-
1LossND
CNTNAP5p.E1290K
Missense
SNP
0.215
2-ND
COA1-
-
-
-
3GainND
COA6-
-
-
-
3GainND
COASYp.F330L
Missense
SNP
0.384
2-ND
COBL-
-
-
-
3GainND
COG2-
-
-
-
3GainND
COG4-
-
-
-
1LossND
COG5-
-
-
-
3GainND
COG7p.E610G
Missense
SNP
0.213
2-ND
COG8-
-
-
-
1LossND
COL10A1p.G206D
Missense
SNP
0.297
2-ND
COL11A1p.P1355S
Missense
SNP
0.265
2-ND
COL19A1p.R877*
Nonsense
SNP
0.180
2-ND
COL1A2-
-
-
-
4GainND
COL21A1p.G922E
p.G533S
Missense
Missense
SNP
SNP
0.289
0.325
2-ND
COL22A1p.P671L
Missense
SNP
0.256
2-ND
COL25A1-
-
-
-
1LossND
COL26A1p.C126W
Missense
SNP
0.270
3GainND
COL27A1p.X945_splice
Splice_Site
SNP
0.726
2-ND
COL28A1-
-
-
-
3GainND
COL4A3p.P460S
p.G839R
Missense
Missense
SNP
SNP
0.475
0.298
2-ND
COL4A4p.W1596*
p.P917S
p.P883S
Nonsense
Missense
Missense
SNP
SNP
SNP
0.211
0.217
0.243
2-ND
COL5A1p.P560L
Missense
SNP
1.000
2-ND
COL6A5p.P1717S
Missense
SNP
0.471
2-ND
COL8A2p.G179R
Missense
SNP
0.204
3GainND
COL9A1p.P892S
Missense
SNP
0.413
2-ND
COLGALT1p.E314K
Missense
SNP
0.526
2-ND
COLGALT2-
-
-
-
3GainND
COMMD3-
-
-
-
1LossND
COMMD3-BMI1-
-
-
-
1LossND
COMMD4-
-
-
-
3GainND
COMMD8p.E5K
Missense
SNP
0.250
2-ND
COMTp.E68K
Missense
DNP
0.596
3GainND
COP1-
-
-
-
3GainND
COPA-
-
-
-
3GainND
COPG2-
-
-
-
3GainND
COPS4-
-
-
-
1LossND
COPS6-
-
-
-
3GainND
COQ2-
-
-
-
1LossND
COQ8A-
-
-
-
3GainND
COQ9-
-
-
-
1LossND
CORO2B-
-
-
-
3GainND
CORT-
-
-
-
3GainND
COTL1-
-
-
-
1LossND
COX10p.P382S
Missense
SNP
0.301
2-ND
COX19-
-
-
-
3GainND
COX20-
-
-
-
3GainND
COX4I1-
-
-
-
1LossND
COX5A-
-
-
-
3GainND
CPA1-
-
-
-
3GainND
CPA2-
-
-
-
3GainND
CPA4-
-
-
-
3GainND
CPA5-
-
-
-
3GainND
CPEp.G178D
Missense
SNP
0.434
3GainND
CPEB1-
-
-
-
3GainND
CPED1-
-
-
-
3GainND
CPLANE1-
-
-
-
3GainND
CPLANE2-
-
-
-
3GainND
CPLX3-
-
-
-
3GainND
CPMp.R289C
Missense
SNP
0.325
2-ND
CPNE2-
-
-
-
1LossND
CPNE4p.S234F
Missense
SNP
0.281
2-ND
CPNE7-
-
-
-
1LossND
CPSF4-
-
-
-
3GainND
CPT1Bp.P371F
Missense
DNP
0.487
2-ND
CPTP-
-
-
-
3GainND
CPVL-
-
-
-
3GainND
CR1-
-
-
-
3GainND
CR1L-
-
-
-
3GainND
CR2-
-
-
-
3GainND
CRABP1-
-
-
-
3GainND
CRABP2-
-
-
-
3GainND
CRB1p.E1122K
Missense
SNP
0.142
3GainND
CRCP-
-
-
-
3GainND
CREB3-
-
-
-
1LossND
CREB3L3p.S338F
Missense
SNP
0.466
2-ND
CREB3L4-
-
-
-
3GainND
CREB5-
-
-
-
3GainND
CREBBPp.P844S
Missense
SNP
0.116
2-ND
CREG1-
-
-
-
3GainND
CREM-
-
-
-
1LossND
CRHR2p.S327F
Missense
SNP
0.372
3GainND
CRISP2p.G186R
Missense
SNP
0.362
2-ND
CRISPLD2-
-
-
-
1LossND
CRKL-
-
-
-
3GainND
CRNNp.G431R
Missense
SNP
0.238
3GainND
CROCC-
-
-
-
3GainND
CROT-
-
-
-
4GainND
CRP-
-
-
-
3GainND
CRTC2-
-
-
-
3GainND
CRTC3-
-
-
-
3GainND
CRYBA4-
-
-
-
3GainND
CRYBB1-
-
-
-
3GainND
CRYBB2p.P37S
Missense
SNP
0.582
3GainND
CRYBB3-
-
-
-
3GainND
CRYBG2-
-
-
-
3GainND
CRYGN-
-
-
-
3GainND
CSF2RBp.K619R
Missense
SNP
0.577
3GainND
CSF3R-
-
-
-
3GainND
CSGALNACT2-
-
-
-
1LossND
CSK-
-
-
-
3GainND
CSMD1p.G3461E
p.S1514F
p.P39S
Missense
Missense
Missense
SNP
SNP
SNP
0.264
0.425
0.274
2-ND
CSMD2p.P2299S
p.G2150K
p.P259S
Missense
Missense
Missense
SNP
DNP
SNP
0.628
0.315
0.369
3GainND
CSMD3p.R1417C
p.E610K
Missense
Missense
SNP
SNP
0.515
0.512
2-ND
CSN2p.S23L
Missense
SNP
0.206
2-ND
CSNK1A1p.R244K
Missense
SNP
0.298
2-ND
CSNK1E-
-
-
-
3GainND
CSNK1G1-
-
-
-
3GainND
CSNK2A2-
-
-
-
1LossND
CSPG4-
-
-
-
3GainND
CSRP1-
-
-
-
3GainND
CSTF2T-
-
-
-
1LossND
CT62-
-
-
-
3GainND
CTCF-
-
-
-
1LossND
CTDP1p.P312L
Missense
SNP
0.532
2-ND
CTLA4p.R193K
Missense
SNP
0.238
2-ND
CTNNBIP1-
-
-
-
3GainND
CTNND2p.P277S
Missense
SNP
0.342
2-ND
CTNSp.V340A
Missense
SNP
0.685
2-ND
CTRB1-
-
-
-
1LossND
CTRB2-
-
-
-
1LossND
CTRC-
-
-
-
3GainND
CTRL-
-
-
-
1LossND
CTSE-
-
-
-
3GainND
CTSH-
-
-
-
3GainND
CTSO-
-
-
-
3GainND
CTTNBP2-
-
-
-
3GainND
CTU2-
-
-
-
1LossND
CUBN-
-
-
-
1LossND
CUL1-
-
-
-
3GainND
CUL2-
-
-
-
1LossND
CUX1-
-
-
-
3GainND
CUX2p.E86K
Missense
SNP
0.287
2-ND
CX3CL1-
-
-
-
1LossND
CXCL10-
-
-
-
1LossND
CXCL11-
-
-
-
1LossND
CXCL12-
-
-
-
1LossND
CXCL13-
-
-
-
1LossND
CXCL8p.E82K
Missense
SNP
0.530
2-ND
CXCL9-
-
-
-
1LossND
CXCR1p.N349S
Missense
SNP
0.416
2-ND
CXorf66p.S151N
Missense
SNP
0.989
NDNDND
CXorf67p.S262F
Missense
SNP
0.448
NDNDND
CXXC4-
-
-
-
1LossND
CYB5B-
-
-
-
1LossND
CYB5R1-
-
-
-
3GainND
CYB5RLp.G172E
Missense
SNP
0.185
2-ND
CYBA-
-
-
-
1LossND
CYCS-
-
-
-
3GainND
CYFIP1-
-
-
-
3GainND
CYLD-
-
-
-
1LossND
CYP11A1-
-
-
-
3GainND
CYP1A1-
-
-
-
3GainND
CYP1A2-
-
-
-
3GainND
CYP21A2-
-
-
-
1LossND
CYP2C18p.A321T
Missense
SNP
0.268
2-ND
CYP2E1p.T212F
Missense
DNP
0.470
1LossND
CYP2U1-
-
-
-
1LossND
CYP2W1-
-
-
-
3GainND
CYP3A4-
-
-
-
3GainND
CYP3A43-
-
-
-
3GainND
CYP3A5-
-
-
-
3GainND
CYP3A7p.E382K
p.G48E
p.G31E
Missense
Missense
Missense
SNP
SNP
SNP
0.492
0.296
0.699
3GainND
CYP3A7-CYP3A51P-
-
-
-
3GainND
CYP4A11p.P384S
Missense
SNP
0.220
2-ND
CYP4F12p.D285N
p.D374N
p.P460S
Missense
Missense
Missense
SNP
SNP
SNP
0.499
0.242
0.500
2-ND
CYP4V2-
-
-
-
3GainND
CYP51A1-
-
-
-
3GainND
CYP7B1p.R452Q
p.P96L
Missense
Missense
SNP
SNP
0.183
0.591
2-ND
CYP8B1p.M47I
Missense
SNP
0.234
2-ND
CYTH3-
-
-
-
3GainND
CYTH4-
-
-
-
3GainND
DAB2-
-
-
-
3GainND
DACH2p.D158N
Missense
SNP
0.529
NDNDND
DAGLB-
-
-
-
3GainND
DAP3-
-
-
-
3GainND
DAPK2-
-
-
-
3GainND
DAPP1-
-
-
-
1LossND
DARS2-
-
-
-
3GainND
DBF4-
-
-
-
3GainND
DBNDD1-
-
-
-
1LossND
DBNL-
-
-
-
3GainND
DCAF10-
-
-
-
1LossND
DCAF12-
-
-
-
0DelND
DCAF4L2p.R125W
Missense
SNP
0.505
2-ND
DCAF6-
-
-
-
3GainND
DCAF8-
-
-
-
3GainND
DCDC2B-
-
-
-
3GainND
DCHS2-
-
-
-
1LossND
DCLK1p.G393E
p.R60C
Missense
Missense
SNP
SNP
0.323
0.362
2-ND
DCLK2-
-
-
-
1LossND
DCLRE1C-
-
-
-
1LossND
DCST1-
-
-
-
3GainND
DCST2-
-
-
-
3GainND
DCTD-
-
-
-
3GainND
DCTN3-
-
-
-
0DelND
DDC-
-
-
-
3GainND
DDI2-
-
-
-
3GainND
DDIT4L-
-
-
-
1LossND
DDOST-
-
-
-
3GainND
DDR2-
-
-
-
3GainND
DDT-
-
-
-
3GainND
DDTL-
-
-
-
3GainND
DDX17-
-
-
-
3GainND
DDX19A-
-
-
-
1LossND
DDX19B-
-
-
-
1LossND
DDX28-
-
-
-
1LossND
DDX4-
-
-
-
3GainND
DDX50p.M528V
Missense
SNP
0.326
2-ND
DDX56-
-
-
-
3GainND
DDX58-
-
-
-
0DelND
DDX59-
-
-
-
3GainND
DDX60-
-
-
-
3GainND
DDX60L-
-
-
-
3GainND
DEDD-
-
-
-
3GainND
DEF8p.L35F
Missense
SNP
1.000
1LossND
DEFB110p.E50K
Missense
SNP
0.400
2-ND
DEGS1-
-
-
-
3GainND
DENND1B-
-
-
-
3GainND
DENND4A-
-
-
-
3GainND
DENND4B-
-
-
-
3GainND
DENND4C-
-
-
-
0DelND
DEPDC1B-
-
-
-
3GainND
DEPDC5-
-
-
-
3GainND
DEPP1-
-
-
-
1LossND
DERL3-
-
-
-
3GainND
DESI2-
-
-
-
3GainND
DET1-
-
-
-
3GainND
DFFA-
-
-
-
3GainND
DFFB-
-
-
-
3GainND
DGCR2-
-
-
-
3GainND
DGCR6-
-
-
-
3GainND
DGCR6L-
-
-
-
3GainND
DGCR8p.A722V
Missense
DNP
0.150
3GainND
DGKBp.G108C
Missense
SNP
0.325
3GainND
DHDDS-
-
-
-
3GainND
DHODH-
-
-
-
1LossND
DHRS2-
-
-
-
1LossND
DHRS3-
-
-
-
3GainND
DHRS4-
-
-
-
1LossND
DHRS4L2-
-
-
-
1LossND
DHRS9p.R41K
Missense
SNP
0.225
2-ND
DHTKD1-
-
-
-
1LossND
DHX29-
-
-
-
3GainND
DHX38-
-
-
-
1LossND
DHX8p.G897R
Missense
SNP
0.287
2-ND
DHX9p.R781C
Missense
SNP
0.158
3GainND
DIDO1p.S1617F
Missense
SNP
0.265
2-ND
DIP2C-
-
-
-
1LossND
DIS3L-
-
-
-
3GainND
DISC1-
-
-
-
3GainND
DISP1-
-
-
-
3GainND
DISP2p.L1022F
Missense
SNP
0.590
2-ND
DISP3p.R222Q
Missense
SNP
0.151
3GainND
DKK1-
-
-
-
1LossND
DKK2-
-
-
-
1LossND
DLD-
-
-
-
3GainND
DLGAP3p.R653S
Missense
SNP
0.661
3GainND
DLX5-
-
-
-
3GainND
DLX6p.P195S
p.R219C
Missense
Missense
SNP
SNP
0.103
0.262
3GainND
DMAC1-
-
-
-
0DelND
DMC1-
-
-
-
3GainND
DMDp.L510F
Missense
SNP
1.000
NDNDND
DMP1-
-
-
-
1LossND
DMRT1-
-
-
-
0DelND
DMRT2-
-
-
-
0DelND
DMRT3-
-
-
-
0DelND
DMRTA1-
-
-
-
0DelND
DMTF1-
-
-
-
4GainND
DMWDp.P276S
Missense
SNP
0.297
2-ND
DMXL1p.G1150D
Missense
SNP
0.280
2-ND
DNAAF1-
-
-
-
1LossND
DNAAF4-
-
-
-
3GainND
DNAAF5-
-
-
-
3GainND
DNAH1p.L3278V
Missense
SNP
0.477
2-ND
DNAH11-
-
-
-
3GainND
DNAH14p.S2138F
p.P2404L
Missense
Missense
SNP
SNP
0.148
0.234
3GainND
DNAH17p.D4080N
p.E1352K
Missense
Missense
SNP
SNP
0.554
0.315
2-ND
DNAH3p.E3387K
p.S1958F
Missense
Missense
SNP
SNP
0.657
0.256
2-ND
DNAH5p.R4592*
p.D4260N
p.E2734K
p.S2025F
p.R1805C
p.E1315K
Nonsense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
0.259
0.469
0.530
0.185
0.501
0.520
2-ND
DNAH6p.G574E
p.P2312L
Missense
Missense
SNP
SNP
0.448
0.552
2-ND
DNAH7p.P1940S
p.D1568N
p.E483K
p.P333S
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.310
0.247
0.481
0.529
2-ND
DNAH9p.A1589T
p.W1679*
Missense
Nonsense
SNP
SNP
0.208
0.338
2-ND
DNAI1-
-
-
-
0DelND
DNAJA1-
-
-
-
0DelND
DNAJA2-
-
-
-
1LossND
DNAJA4-
-
-
-
3GainND
DNAJB14-
-
-
-
1LossND
DNAJB5-
-
-
-
1LossND
DNAJB6-
-
-
-
3GainND
DNAJB7-
-
-
-
3GainND
DNAJB9-
-
-
-
3GainND
DNAJC1-
-
-
-
1LossND
DNAJC11-
-
-
-
3GainND
DNAJC16p.S227F
p.H530Y
Missense
Missense
SNP
SNP
0.298
0.322
3GainND
DNAJC2-
-
-
-
3GainND
DNAJC30-
-
-
-
3GainND
DNAJC8-
-
-
-
3GainND
DNAL4-
-
-
-
3GainND
DNALI1-
-
-
-
3GainND
DNM3-
-
-
-
3GainND
DOCK1p.L1750Q
Missense
DNP
1.000
2-ND
DOCK2p.X1763_splice
Splice_Site
SNP
0.634
2-ND
DOCK3p.X73_splice
p.P494L
Splice_Site
Missense
SNP
SNP
0.448
0.192
2-ND
DOCK4p.P1327S
Missense
SNP
0.178
3GainND
DOCK5p.S1306L
Missense
SNP
0.350
2-ND
DOCK6p.D967N
p.G655S
Missense
Missense
SNP
SNP
0.231
0.485
2-ND
DOCK8p.S1573F
Missense
SNP
0.990
0DelND
DOK1p.P423F
Missense
DNP
0.473
2-ND
DOK4-
-
-
-
1LossND
DPCR1p.P1059L
Missense
SNP
0.666
NDNDND
DPEP1-
-
-
-
1LossND
DPEP2-
-
-
-
1LossND
DPEP3-
-
-
-
1LossND
DPM3-
-
-
-
3GainND
DPP10p.R562Q
Missense
SNP
0.439
2-ND
DPP4p.S764F
Missense
SNP
0.469
2-ND
DPP6-
-
-
-
3GainND
DPP8-
-
-
-
3GainND
DPPA4p.E155K
Missense
SNP
0.191
2-ND
DPT-
-
-
-
3GainND
DPY19L1-
-
-
-
3GainND
DPY19L4p.S435F
Missense
SNP
0.500
2-ND
DPYSL3p.G578R
Missense
SNP
0.323
2-ND
DPYSL4-
-
-
-
1LossND
DPYSL5p.A199V
Missense
SNP
0.357
2-ND
DRAM1p.P149L
Missense
SNP
0.311
2-ND
DRAXIN-
-
-
-
3GainND
DRC7-
-
-
-
1LossND
DRD5p.G37E
Missense
SNP
0.185
2-ND
DRG1-
-
-
-
3GainND
DRGX-
-
-
-
1LossND
DRICH1-
-
-
-
3GainND
DROSHA-
-
-
-
3GainND
DSC2p.G263E
Missense
SNP
0.490
2-ND
DSC3p.E400K
Missense
SNP
0.181
2-ND
DSCAML1p.P315S
Missense
DNP
0.667
2-ND
DSCC1p.X309_splice
Splice_Site
SNP
0.455
2-ND
DSPp.R1341C
p.R1400Q
p.Y1465*
Missense
Missense
Nonsense
DNP
SNP
SNP
0.319
0.304
0.651
2-ND
DSPP-
-
-
-
1LossND
DSTYK-
-
-
-
3GainND
DTL-
-
-
-
3GainND
DTNAp.S60F
Missense
SNP
0.218
2-ND
DTX2-
-
-
-
3GainND
DUS2-
-
-
-
1LossND
DUS4L-
-
-
-
3GainND
DUSP10-
-
-
-
3GainND
DUSP12-
-
-
-
3GainND
DUSP18-
-
-
-
3GainND
DUSP21p.E64K
Missense
SNP
1.000
NDNDND
DUSP23-
-
-
-
3GainND
DUSP27-
-
-
-
3GainND
DUXB-
-
-
-
1LossND
DVL1-
-
-
-
3GainND
DYNC1I1-
-
-
-
3GainND
DYNC1LI2-
-
-
-
1LossND
DYNC2H1p.E4142K
Missense
SNP
0.299
2-ND
DYNLRB2-
-
-
-
1LossND
DYRK3-
-
-
-
3GainND
DYTNp.E75K
Missense
SNP
0.287
2-ND
DZIP1p.R417K
Missense
SNP
0.352
2-ND
E2F2-
-
-
-
3GainND
E2F3p.L310P
Missense
SNP
0.658
2-ND
E2F4-
-
-
-
1LossND
E2F5p.S234R
p.S235L
Missense
Missense
SNP
SNP
0.466
0.480
2-ND
EBF4p.G76R
Missense
SNP
0.560
2-ND
EBLN1-
-
-
-
1LossND
ECE1-
-
-
-
3GainND
ECE2p.R248Q
Missense
SNP
0.216
2-ND
ECHDC3-
-
-
-
1LossND
ECHS1-
-
-
-
1LossND
EDARp.H173R
Missense
SNP
0.549
2-ND
EDARADD-
-
-
-
3GainND
EDC3-
-
-
-
3GainND
EDC4-
-
-
-
1LossND
EDEM3-
-
-
-
3GainND
EDNRA-
-
-
-
3GainND
EEPD1-
-
-
-
3GainND
EFCAB10-
-
-
-
3GainND
EFCAB12p.E411K
Missense
SNP
0.235
2-ND
EFCAB2-
-
-
-
3GainND
EFCAB6p.N290S
Missense
SNP
0.521
2-ND
EFCAB9p.S22F
Missense
SNP
0.676
2-ND
EFCC1p.G234R
p.C429W
Missense
Missense
SNP
SNP
0.235
0.267
2-ND
EFHD2-
-
-
-
3GainND
EFL1-
-
-
-
3GainND
EFNA1-
-
-
-
3GainND
EFNA3-
-
-
-
3GainND
EFNA4-
-
-
-
3GainND
EFS-
-
-
-
1LossND
EGFp.X110_splice
Splice_Site
SNP
1.000
1LossND
EGFLAM-
-
-
-
3GainND
EGFR-
-
-
-
3GainND
EGLN1-
-
-
-
3GainND
EHBP1p.P637L
Missense
SNP
0.290
2-ND
EIF2AK1-
-
-
-
3GainND
EIF2AK2p.S242F
Missense
SNP
0.185
2-ND
EIF2D-
-
-
-
3GainND
EIF3B-
-
-
-
3GainND
EIF3Dp.L509F
Missense
SNP
0.513
3GainND
EIF3I-
-
-
-
3GainND
EIF3L-
-
-
-
3GainND
EIF4A2p.Q202*
Nonsense
SNP
0.477
2-ND
EIF4E-
-
-
-
1LossND
EIF4ENIF1-
-
-
-
3GainND
EIF4G1p.T674A
Missense
SNP
0.468
2-ND
EIF4G3-
-
-
-
3GainND
EIF4H-
-
-
-
4GainND
ELAVL2-
-
-
-
0DelND
ELAVL4p.X120_splice
Splice_Site
SNP
0.716
2-ND
ELF2-
-
-
-
3GainND
ELF3-
-
-
-
3GainND
ELFN1-
-
-
-
3GainND
ELFN2p.E719K
Missense
SNP
0.570
3GainND
ELK4-
-
-
-
3GainND
ELMO1-
-
-
-
3GainND
ELMO3-
-
-
-
1LossND
ELMOD2-
-
-
-
3GainND
ELN-
-
-
-
3GainND
ELOA-
-
-
-
3GainND
ELOVL6-
-
-
-
1LossND
EMB-
-
-
-
3GainND
EMC1-
-
-
-
3GainND
EMC8-
-
-
-
1LossND
EMCN-
-
-
-
1LossND
EMID1-
-
-
-
3GainND
EML4p.A289V
Missense
SNP
0.167
2-ND
EN2-
-
-
-
3GainND
ENAH-
-
-
-
3GainND
ENHO-
-
-
-
0DelND
ENKD1-
-
-
-
1LossND
ENKUR-
-
-
-
1LossND
ENO1-
-
-
-
3GainND
ENOPH1-
-
-
-
1LossND
ENOX2p.R237C
Missense
SNP
1.000
NDNDND
ENPEP-
-
-
-
1LossND
ENPP6-
-
-
-
3GainND
ENTHD1-
-
-
-
3GainND
ENTPD3p.E483K
Missense
SNP
0.268
2-ND
EP300p.P2064L
Missense
SNP
0.574
3GainND
EP400p.S2650F
p.Q2704*
Missense
Nonsense
SNP
SNP
0.442
0.588
2-ND
EPAS1p.P599L
Missense
SNP
0.525
2-ND
EPB41-
-
-
-
3GainND
EPB41L4Ap.M374I
Missense
SNP
0.714
2-ND
EPC1-
-
-
-
1LossND
EPDR1-
-
-
-
3GainND
EPHA2-
-
-
-
3GainND
EPHA3p.A272T
Missense
SNP
0.528
2-ND
EPHA4p.R466W
p.W348*
Missense
Nonsense
SNP
SNP
0.489
0.459
2-ND
EPHA6p.D770N
Missense
SNP
0.456
2-ND
EPHA7p.S287F
Missense
SNP
0.224
2-ND
EPHA8-
-
-
-
3GainND
EPHB2p.R311K
Missense
SNP
0.456
3GainND
EPHB4-
-
-
-
3GainND
EPHX1-
-
-
-
3GainND
EPHX2p.E444K
Missense
SNP
0.190
2-ND
EPO-
-
-
-
3GainND
EPRS-
-
-
-
3GainND
EPXp.P269S
Missense
SNP
0.317
2-ND
EQTN-
-
-
-
0DelND
ERC2p.K776*
p.R88*
Nonsense
Nonsense
SNP
SNP
0.456
0.462
2-ND
ERCC6-
-
-
-
1LossND
ERICH3p.E978K
Missense
SNP
0.809
2-ND
ERMP1-
-
-
-
0DelND
ERO1B-
-
-
-
3GainND
ERRFI1-
-
-
-
3GainND
ERV3-1-
-
-
-
3GainND
ESM1-
-
-
-
3GainND
ESPL1p.P308S
Missense
SNP
0.316
2-ND
ESPN-
-
-
-
3GainND
ESRP2-
-
-
-
1LossND
ESRRG-
-
-
-
3GainND
ESS2-
-
-
-
3GainND
ESYT2-
-
-
-
3GainND
ETFA-
-
-
-
3GainND
ETFDH-
-
-
-
3GainND
ETNK2-
-
-
-
3GainND
ETNPPL-
-
-
-
1LossND
ETV1-
-
-
-
3GainND
ETV3-
-
-
-
3GainND
ETV3L-
-
-
-
3GainND
ETV6p.L117F
Missense
SNP
0.400
2-ND
EVA1B-
-
-
-
3GainND
EVPLp.P28S
Missense
SNP
0.550
2-ND
EVX1-
-
-
-
3GainND
EWSR1-
-
-
-
3GainND
EXD1p.G386R
Missense
SNP
0.996
2-ND
EXO1-
-
-
-
3GainND
EXOC1p.S491F
Missense
SNP
0.420
2-ND
EXOC3L1-
-
-
-
1LossND
EXOC8-
-
-
-
3GainND
EXOSC10p.P67S
Missense
SNP
0.319
3GainND
EXOSC2p.P13L
Missense
SNP
0.301
2-ND
EXOSC3-
-
-
-
1LossND
EXOSC6-
-
-
-
1LossND
EXOSC9-
-
-
-
1LossND
EXTL1-
-
-
-
3GainND
EYA3-
-
-
-
3GainND
EYA4p.D404N
Missense
SNP
0.202
2-ND
EZH2-
-
-
-
3GainND
F11-
-
-
-
3GainND
F11R-
-
-
-
3GainND
F13Bp.M403I
Missense
SNP
0.227
3GainND
F5p.Q960*
Nonsense
SNP
0.339
3GainND
F9p.E259K
Missense
SNP
0.250
NDNDND
FA2H-
-
-
-
1LossND
FAAP20-
-
-
-
3GainND
FABP2-
-
-
-
1LossND
FABP3-
-
-
-
3GainND
FAH-
-
-
-
3GainND
FAM107B-
-
-
-
1LossND
FAM110D-
-
-
-
3GainND
FAM118A-
-
-
-
3GainND
FAM126A-
-
-
-
3GainND
FAM129A-
-
-
-
3GainND
FAM131C-
-
-
-
3GainND
FAM133B-
-
-
-
4GainND
FAM13A-
-
-
-
1LossND
FAM13C-
-
-
-
1LossND
FAM149A-
-
-
-
3GainND
FAM151Bp.S238F
Missense
SNP
0.342
2-ND
FAM160A1-
-
-
-
1LossND
FAM163A-
-
-
-
3GainND
FAM166B-
-
-
-
1LossND
FAM167B-
-
-
-
3GainND
FAM169B-
-
-
-
3GainND
FAM170B-
-
-
-
1LossND
FAM171A1-
-
-
-
1LossND
FAM174B-
-
-
-
3GainND
FAM177B-
-
-
-
3GainND
FAM179Ap.G153E
Missense
SNP
0.500
NDNDND
FAM185A-
-
-
-
3GainND
FAM189A1-
-
-
-
3GainND
FAM189B-
-
-
-
3GainND
FAM192A-
-
-
-
1LossND
FAM193A-
-
-
-
3GainND
FAM198B-
-
-
-
3GainND
FAM19A5-
-
-
-
3GainND
FAM200A-
-
-
-
3GainND
FAM205A-
-
-
-
0DelND
FAM208B-
-
-
-
1LossND
FAM20B-
-
-
-
3GainND
FAM20C-
-
-
-
3GainND
FAM214A-
-
-
-
3GainND
FAM214B-
-
-
-
1LossND
FAM218A-
-
-
-
3GainND
FAM219A-
-
-
-
0DelND
FAM219B-
-
-
-
3GainND
FAM220A-
-
-
-
3GainND
FAM221A-
-
-
-
3GainND
FAM221B-
-
-
-
1LossND
FAM227Ap.P410S
Missense
SNP
0.435
3GainND
FAM229A-
-
-
-
3GainND
FAM240B-
-
-
-
1LossND
FAM241A-
-
-
-
1LossND
FAM3C-
-
-
-
3GainND
FAM43B-
-
-
-
3GainND
FAM47Cp.G770R
p.S894F
Missense
Missense
SNP
SNP
0.496
0.489
NDNDND
FAM47E-
-
-
-
1LossND
FAM47E-STBD1-
-
-
-
1LossND
FAM71A-
-
-
-
3GainND
FAM71F1-
-
-
-
3GainND
FAM71F2-
-
-
-
3GainND
FAM76A-
-
-
-
3GainND
FAM78B-
-
-
-
3GainND
FAM81A-
-
-
-
3GainND
FAM83Fp.L442F
Missense
SNP
0.309
3GainND
FAM84Ap.S97F
Missense
SNP
0.209
2-ND
FAM84Bp.V167I
Missense
SNP
0.242
2-ND
FAM89A-
-
-
-
3GainND
FAM92B-
-
-
-
1LossND
FAM95C-
-
-
-
1LossND
FAN1-
-
-
-
3GainND
FANCA-
-
-
-
1LossND
FANCG-
-
-
-
1LossND
FANCI-
-
-
-
3GainND
FARSAp.P45S
Missense
SNP
0.463
2-ND
FASLG-
-
-
-
3GainND
FASTKp.G84R
Missense
SNP
0.326
3GainND
FAT1p.S4272F
Missense
SNP
0.180
3GainND
FAT3p.S239F
p.G618E
p.G1858E
Missense
Missense
Missense
SNP
SNP
SNP
0.697
0.317
0.688
2-ND
FAT4-
-
-
-
3GainND
FBH1-
-
-
-
1LossND
FBLIM1-
-
-
-
3GainND
FBLN1-
-
-
-
3GainND
FBLN5p.P70S
Missense
SNP
0.299
2-ND
FBXL13-
-
-
-
3GainND
FBXL18-
-
-
-
3GainND
FBXL22-
-
-
-
3GainND
FBXL8-
-
-
-
1LossND
FBXO10-
-
-
-
1LossND
FBXO18p.R754W
Missense
SNP
1.000
NDNDND
FBXO2-
-
-
-
3GainND
FBXO22-
-
-
-
3GainND
FBXO24-
-
-
-
3GainND
FBXO28-
-
-
-
3GainND
FBXO31-
-
-
-
1LossND
FBXO38p.P273S
Missense
SNP
0.290
2-ND
FBXO4-
-
-
-
3GainND
FBXO42-
-
-
-
3GainND
FBXO44-
-
-
-
3GainND
FBXO6-
-
-
-
3GainND
FBXO7-
-
-
-
3GainND
FBXO8-
-
-
-
3GainND
FBXW11p.R414C
Missense
SNP
0.231
2-ND
FBXW7-
-
-
-
1LossND
FCAMRp.P312L
Missense
SNP
0.356
3GainND
FCER1A-
-
-
-
3GainND
FCER1G-
-
-
-
3GainND
FCGR1Bp.R222K
Missense
SNP
0.226
2-ND
FCGR2A-
-
-
-
3GainND
FCGR2B-
-
-
-
3GainND
FCGR2C-
-
-
-
3GainND
FCGR3A-
-
-
-
3GainND
FCGR3B-
-
-
-
3GainND
FCMRp.R187C
Missense
SNP
0.147
3GainND
FCN3-
-
-
-
3GainND
FCRL1-
-
-
-
3GainND
FCRL2-
-
-
-
3GainND
FCRL3-
-
-
-
3GainND
FCRL4-
-
-
-
3GainND
FCRL5-
-
-
-
3GainND
FCRL6-
-
-
-
3GainND
FCRLA-
-
-
-
3GainND
FCRLB-
-
-
-
3GainND
FDPS-
-
-
-
3GainND
FEM1B-
-
-
-
3GainND
FERD3L-
-
-
-
3GainND
FES-
-
-
-
3GainND
FEZF1-
-
-
-
3GainND
FFAR4p.S206W
Missense
SNP
0.523
2-ND
FGA-
-
-
-
1LossND
FGB-
-
-
-
1LossND
FGD5p.M1169I
Missense
SNP
0.447
2-ND
FGF10-
-
-
-
3GainND
FGF2-
-
-
-
1LossND
FGF5-
-
-
-
1LossND
FGFR4p.P689S
Missense
SNP
0.370
2-ND
FGG-
-
-
-
1LossND
FGL2-
-
-
-
4GainND
FGR-
-
-
-
3GainND
FH-
-
-
-
3GainND
FHAD1-
-
-
-
3GainND
FHDC1-
-
-
-
1LossND
FHL5p.K19N
Missense
SNP
0.815
2-ND
FHOD1-
-
-
-
1LossND
FIGNL1-
-
-
-
3GainND
FIS1-
-
-
-
3GainND
FKBP14-
-
-
-
3GainND
FKBP6-
-
-
-
3GainND
FKBP9-
-
-
-
3GainND
FLAD1-
-
-
-
3GainND
FLG2-
-
-
-
3GainND
FLNC-
-
-
-
3GainND
FLT4p.D1061G
Missense
SNP
0.620
2-ND
FLVCR1-
-
-
-
3GainND
FMN2p.P1208S
Missense
SNP
0.926
3GainND
FMO1-
-
-
-
3GainND
FMO2-
-
-
-
3GainND
FMO3-
-
-
-
3GainND
FMO4-
-
-
-
3GainND
FMOD-
-
-
-
3GainND
FNDC10-
-
-
-
3GainND
FNDC5-
-
-
-
3GainND
FNDC7p.S76F
Missense
SNP
0.214
2-ND
FNIP2-
-
-
-
3GainND
FO681492.1-
-
-
-
1LossND
FOCAD-
-
-
-
0DelND
FOLH1p.X480_splice
Splice_Site
SNP
0.784
2-ND
FOXA3p.P250S
Missense
SNP
0.293
2-ND
FOXB1-
-
-
-
3GainND
FOXC2-
-
-
-
1LossND
FOXF1-
-
-
-
1LossND
FOXK1-
-
-
-
3GainND
FOXL1-
-
-
-
1LossND
FOXM1p.Y129*
Nonsense
SNP
0.298
2-ND
FOXP2-
-
-
-
3GainND
FOXRED2-
-
-
-
3GainND
FPR3p.P8L
Missense
SNP
0.363
2-ND
FRAS1-
-
-
-
1LossND
FREM1-
-
-
-
0DelND
FREM3-
-
-
-
3GainND
FRG1-
-
-
-
3GainND
FRG2-
-
-
-
3GainND
FRG2B-
-
-
-
1LossND
FRMD4A-
-
-
-
1LossND
FRMPD1-
-
-
-
1LossND
FRMPD2-
-
-
-
1LossND
FSCBp.S186L
Missense
SNP
0.333
2-ND
FSCN1-
-
-
-
3GainND
FSCN2p.D285N
Missense
SNP
0.316
2-ND
FSCN3-
-
-
-
3GainND
FSD2-
-
-
-
3GainND
FSHRp.G670D
Missense
SNP
0.415
2-ND
FSIP2p.R626K
p.E930K
Missense
Missense
SNP
SNP
0.483
0.254
2-ND
FST-
-
-
-
3GainND
FSTL5-
-
-
-
3GainND
FTO-
-
-
-
1LossND
FUCA1-
-
-
-
3GainND
FUK-
-
-
-
1LossND
FUOM-
-
-
-
1LossND
FURIN-
-
-
-
3GainND
FUT3p.P61L
Missense
SNP
0.367
2-ND
FUT9p.D339N
Missense
SNP
0.617
2-ND
FXYD4-
-
-
-
1LossND
FYB1-
-
-
-
3GainND
FZD1-
-
-
-
3GainND
FZD10p.P547L
Missense
SNP
0.340
2-ND
FZD8-
-
-
-
1LossND
FZD9-
-
-
-
3GainND
G0S2-
-
-
-
3GainND
G3BP2-
-
-
-
1LossND
GAB1-
-
-
-
3GainND
GAB4p.M140I
Missense
SNP
0.128
3GainND
GABARAPL2-
-
-
-
1LossND
GABRA5-
-
-
-
3GainND
GABRB3-
-
-
-
3GainND
GABRD-
-
-
-
3GainND
GABRG2p.R419W
Missense
SNP
0.325
2-ND
GABRG3-
-
-
-
3GainND
GAD2p.P401S
Missense
DNP
0.481
1LossND
GAL3ST1-
-
-
-
3GainND
GAL3ST3p.P53F
Missense
DNP
0.299
2-ND
GAL3ST4-
-
-
-
3GainND
GALE-
-
-
-
3GainND
GALNS-
-
-
-
1LossND
GALNT11-
-
-
-
3GainND
GALNT17-
-
-
-
3GainND
GALNT2-
-
-
-
3GainND
GALNT7-
-
-
-
3GainND
GALNT9p.S7F
Missense
DNP
0.273
2-ND
GALNTL5-
-
-
-
3GainND
GALNTL6-
-
-
-
3GainND
GALR3-
-
-
-
3GainND
GALT-
-
-
-
0DelND
GAN-
-
-
-
1LossND
GAPT-
-
-
-
3GainND
GAR1-
-
-
-
1LossND
GARS-
-
-
-
3GainND
GAS2L1-
-
-
-
3GainND
GAS8-
-
-
-
1LossND
GATA3-
-
-
-
1LossND
GATAD1-
-
-
-
4GainND
GATAD2B-
-
-
-
3GainND
GATB-
-
-
-
1LossND
GATSL2p.P93L
Missense
SNP
0.498
NDNDND
GBA-
-
-
-
3GainND
GBA2-
-
-
-
1LossND
GBA3p.D105N
p.H201Y
Missense
Missense
SNP
SNP
0.194
0.440
2-ND
GBE1p.S111L
Missense
SNP
0.417
2-ND
GBX1-
-
-
-
3GainND
GCp.D355N
Missense
SNP
0.542
2-ND
GCAT-
-
-
-
3GainND
GCC1-
-
-
-
3GainND
GCKp.E52K
Missense
SNP
0.144
3GainND
GCM1p.E386K
p.P282L
Missense
Missense
SNP
SNP
0.657
0.312
2-ND
GCN1-
-
-
-
3GainND
GCNT3-
-
-
-
3GainND
GCNT4p.S201F
Missense
SNP
0.577
2-ND
GCOM1-
-
-
-
3GainND
GCSAML-
-
-
-
3GainND
GCSAML-AS1-
-
-
-
3GainND
GCSH-
-
-
-
1LossND
GDF10-
-
-
-
1LossND
GDF2-
-
-
-
1LossND
GDI2-
-
-
-
1LossND
GDNF-
-
-
-
3GainND
GDPGP1-
-
-
-
3GainND
GET4-
-
-
-
3GainND
GFOD2-
-
-
-
1LossND
GFRA3p.H63Y
Missense
SNP
0.230
2-ND
GGA1-
-
-
-
3GainND
GGCT-
-
-
-
3GainND
GGPS1-
-
-
-
3GainND
GGT1-
-
-
-
3GainND
GGT2-
-
-
-
3GainND
GGT5p.Y573F
Missense
SNP
0.180
3GainND
GGTLC2-
-
-
-
3GainND
GHR-
-
-
-
3GainND
GHRHR-
-
-
-
3GainND
GIGYF1-
-
-
-
3GainND
GIMAP1-
-
-
-
3GainND
GIMAP1-GIMAP5-
-
-
-
3GainND
GIMAP2-
-
-
-
3GainND
GIMAP4p.S100F
Missense
SNP
0.615
3GainND
GIMAP5-
-
-
-
3GainND
GIMAP6p.V199M
Missense
SNP
0.149
3GainND
GIMAP7-
-
-
-
3GainND
GIMAP8-
-
-
-
3GainND
GIMD1-
-
-
-
1LossND
GINS2-
-
-
-
1LossND
GINS3-
-
-
-
1LossND
GJA10p.D132N
Missense
SNP
0.294
2-ND
GJA4-
-
-
-
3GainND
GJB3-
-
-
-
3GainND
GJB4-
-
-
-
3GainND
GJB5-
-
-
-
3GainND
GJC2-
-
-
-
3GainND
GJC3-
-
-
-
3GainND
GJD4-
-
-
-
1LossND
GK2-
-
-
-
1LossND
GK3P-
-
-
-
3GainND
GLCCI1-
-
-
-
3GainND
GLCE-
-
-
-
3GainND
GLDC-
-
-
-
0DelND
GLG1-
-
-
-
1LossND
GLI2p.S388F
p.D856N
p.P1547L
Missense
Missense
Missense
SNP
SNP
SNP
0.225
0.193
0.462
2-ND
GLI3-
-
-
-
3GainND
GLIPR2-
-
-
-
1LossND
GLIS3-
-
-
-
0DelND
GLMP-
-
-
-
3GainND
GLOD4p.S31F
Missense
SNP
0.646
2-ND
GLRA3-
-
-
-
3GainND
GLRBp.W139*
Nonsense
SNP
0.498
3GainND
GLRX2-
-
-
-
3GainND
GLSp.S482F
Missense
SNP
0.396
2-ND
GLT8D1-
-
-
-
3GainND
GLUL-
-
-
-
3GainND
GMEB1-
-
-
-
3GainND
GNA12-
-
-
-
3GainND
GNAI1-
-
-
-
4GainND
GNAO1-
-
-
-
1LossND
GNAT3-
-
-
-
4GainND
GNAZ-
-
-
-
3GainND
GNB1-
-
-
-
3GainND
GNB1L-
-
-
-
3GainND
GNB2-
-
-
-
3GainND
GNE-
-
-
-
1LossND
GNG11-
-
-
-
4GainND
GNG4-
-
-
-
3GainND
GNGT1-
-
-
-
4GainND
GNL2-
-
-
-
3GainND
GNL3-
-
-
-
3GainND
GNPAT-
-
-
-
3GainND
GOLGA4p.P101S
Missense
SNP
0.217
2-ND
GOLGA6B-
-
-
-
3GainND
GOLGA6L2-
-
-
-
3GainND
GOLGA6L7-
-
-
-
3GainND
GOLGA8F-
-
-
-
3GainND
GOLGA8G-
-
-
-
3GainND
GOLGA8R-
-
-
-
3GainND
GOLGA8S-
-
-
-
3GainND
GOLGB1p.D21G
Missense
SNP
0.477
2-ND
GOLPH3-
-
-
-
3GainND
GOLT1A-
-
-
-
3GainND
GON4L-
-
-
-
3GainND
GORAB-
-
-
-
3GainND
GOT2-
-
-
-
1LossND
GP1BB-
-
-
-
3GainND
GP2p.R112Q
Missense
SNP
0.107
2-ND
GPA33-
-
-
-
3GainND
GPAT3-
-
-
-
1LossND
GPATCH2-
-
-
-
3GainND
GPATCH3p.D291N
Missense
SNP
0.260
3GainND
GPATCH4-
-
-
-
3GainND
GPBP1-
-
-
-
3GainND
GPC2-
-
-
-
3GainND
GPC5p.G506R
Missense
SNP
0.266
2-ND
GPER1-
-
-
-
3GainND
GPLD1p.M126I
Missense
SNP
0.329
2-ND
GPM6Ap.M77I
Missense
SNP
0.476
3GainND
GPN2-
-
-
-
3GainND
GPNMB-
-
-
-
3GainND
GPR137B-
-
-
-
3GainND
GPR141p.G156E
p.E267K
Missense
Missense
SNP
SNP
0.513
0.141
3GainND
GPR146-
-
-
-
3GainND
GPR153-
-
-
-
3GainND
GPR157-
-
-
-
3GainND
GPR158-
-
-
-
1LossND
GPR161-
-
-
-
3GainND
GPR179p.G1765E
Missense
SNP
0.336
2-ND
GPR22-
-
-
-
3GainND
GPR25-
-
-
-
3GainND
GPR3-
-
-
-
3GainND
GPR37-
-
-
-
3GainND
GPR37L1-
-
-
-
3GainND
GPR52p.V208D
Missense
SNP
0.363
4GainND
GPR65p.G50E
Missense
SNP
0.298
2-ND
GPR83p.A325V
Missense
SNP
0.771
2-ND
GPR85-
-
-
-
3GainND
GPRASP2p.S485F
Missense
SNP
1.000
NDNDND
GPRC6Ap.T710N
Missense
SNP
0.325
2-ND
GPRIN2-
-
-
-
1LossND
GPRIN3-
-
-
-
1LossND
GPTp.E305K
Missense
DNP
0.490
2-ND
GPT2-
-
-
-
1LossND
GPX8-
-
-
-
3GainND
GRAMD2A-
-
-
-
3GainND
GRAMD4p.S28L
p.M205I
Missense
Missense
SNP
SNP
0.198
0.512
3GainND
GRAP2-
-
-
-
3GainND
GRB10-
-
-
-
3GainND
GREM2-
-
-
-
3GainND
GRHL3-
-
-
-
3GainND
GRHPR-
-
-
-
1LossND
GRIA2-
-
-
-
3GainND
GRIA4p.W16*
Nonsense
SNP
0.375
2-ND
GRID2-
-
-
-
1LossND
GRID2IP-
-
-
-
3GainND
GRIFIN-
-
-
-
3GainND
GRIK2p.P338S
p.E808K
Missense
Missense
SNP
SNP
0.306
0.372
2-ND
GRIK3-
-
-
-
3GainND
GRIN2Cp.E329K
Missense
SNP
0.320
2-ND
GRIN3Ap.P882L
p.Y432N
p.E340K
Missense
Missense
Missense
SNP
SNP
SNP
1.000
1.000
0.664
2-ND
GRIN3Bp.W513*
Nonsense
SNP
0.497
2-ND
GRIP2p.T311I
Missense
SNP
0.566
2-ND
GRK3-
-
-
-
3GainND
GRK4-
-
-
-
3GainND
GRM3-
-
-
-
4GainND
GRM4p.R61K
Missense
SNP
0.325
2-ND
GRM5p.P83S
Missense
SNP
0.277
2-ND
GRM8p.P719L
Missense
SNP
0.455
3GainND
GRPRp.A153V
Missense
SNP
0.590
NDNDND
GSAP-
-
-
-
4GainND
GSC2-
-
-
-
3GainND
GSDME-
-
-
-
3GainND
GSE1-
-
-
-
1LossND
GSTA1p.D42E
Missense
SNP
0.375
2-ND
GSTCD-
-
-
-
1LossND
GSTM3p.P206L
Missense
SNP
0.331
2-ND
GSTT2-
-
-
-
3GainND
GSTT2B-
-
-
-
3GainND
GSTT4-
-
-
-
3GainND
GTDC1p.P270S
Missense
SNP
0.201
2-ND
GTF2A2-
-
-
-
3GainND
GTF2I-
-
-
-
4GainND
GTF2IRD1-
-
-
-
4GainND
GTF2IRD2-
-
-
-
4GainND
GTF2IRD2B-
-
-
-
3GainND
GTPBP1-
-
-
-
3GainND
GTPBP10-
-
-
-
3GainND
GTPBP4-
-
-
-
1LossND
GTPBP8p.L20P
Missense
SNP
0.464
2-ND
GTSE1p.P280S
Missense
SNP
0.505
3GainND
GUCD1-
-
-
-
3GainND
GUCY1A1-
-
-
-
3GainND
GUCY1B1-
-
-
-
3GainND
GUCY1B3p.L38F
Missense
SNP
0.533
NDNDND
GUCY2Cp.D179N
Missense
SNP
0.250
2-ND
GUK1-
-
-
-
3GainND
GUSB-
-
-
-
3GainND
GYPA-
-
-
-
3GainND
GYPB-
-
-
-
3GainND
GYPE-
-
-
-
3GainND
GZMA-
-
-
-
3GainND
GZMK-
-
-
-
3GainND
H1F0-
-
-
-
3GainND
H2AFV-
-
-
-
3GainND
H2AFZ-
-
-
-
1LossND
H3F3A-
-
-
-
3GainND
H6PD-
-
-
-
3GainND
HACD1-
-
-
-
1LossND
HACD3-
-
-
-
3GainND
HACD4-
-
-
-
0DelND
HADH-
-
-
-
1LossND
HAND2-
-
-
-
3GainND
HAPLN2-
-
-
-
3GainND
HAPLN3-
-
-
-
3GainND
HAS1p.A47V
Missense
SNP
0.253
2-ND
HAS3-
-
-
-
1LossND
HAUS6-
-
-
-
0DelND
HAUS8p.P248L
Missense
SNP
0.528
2-ND
HAX1-
-
-
-
3GainND
HBP1-
-
-
-
3GainND
HCFC1p.R847C
p.L846P
Missense
Missense
SNP
SNP
1.000
1.000
NDNDND
HCKp.E221K
Missense
SNP
0.416
2-ND
HCN1-
-
-
-
3GainND
HCN3-
-
-
-
3GainND
HCN4-
-
-
-
3GainND
HCRTR1-
-
-
-
3GainND
HDAC1-
-
-
-
3GainND
HDAC7p.P401F
Missense
DNP
0.331
2-ND
HDAC9-
-
-
-
3GainND
HDDC3-
-
-
-
3GainND
HDGF-
-
-
-
3GainND
HDGFL3-
-
-
-
3GainND
HDHD5-
-
-
-
3GainND
HEATR1-
-
-
-
3GainND
HEATR3p.A275V
Missense
SNP
1.000
1LossND
HECW1-
-
-
-
3GainND
HELQ-
-
-
-
1LossND
HELT-
-
-
-
3GainND
HELZp.D709E
Missense
SNP
0.774
2-ND
HEPACAMp.T78I
Missense
SNP
0.728
2-ND
HEPACAM2-
-
-
-
4GainND
HERC1p.P3669S
Missense
SNP
0.132
3GainND
HERC2-
-
-
-
3GainND
HERC3-
-
-
-
1LossND
HERC5-
-
-
-
1LossND
HERC6-
-
-
-
1LossND
HERPUD1-
-
-
-
1LossND
HERPUD2-
-
-
-
3GainND
HES2-
-
-
-
3GainND
HES3-
-
-
-
3GainND
HES4-
-
-
-
3GainND
HES5-
-
-
-
3GainND
HEXA-
-
-
-
3GainND
HFM1p.P1251S
Missense
SNP
0.688
2-ND
HGF-
-
-
-
4GainND
HHAT-
-
-
-
3GainND
HHIP-
-
-
-
3GainND
HHIPL2-
-
-
-
3GainND
HIBADH-
-
-
-
3GainND
HIC2-
-
-
-
3GainND
HIF1ANp.A329V
Missense
SNP
1.000
2-ND
HIGD2B-
-
-
-
3GainND
HILPDA-
-
-
-
3GainND
HINFPp.S139F
Missense
SNP
0.778
2-ND
HINT2-
-
-
-
1LossND
HIP1-
-
-
-
3GainND
HIP1Rp.E795K
Missense
SNP
0.240
5AmpND
HIRA-
-
-
-
3GainND
HIST3H2A-
-
-
-
3GainND
HIST3H2BB-
-
-
-
3GainND
HIST3H3-
-
-
-
3GainND
HIVEP2p.S1328F
Missense
SNP
0.648
2-ND
HLCSp.P132S
Missense
SNP
0.305
2-ND
HLX-
-
-
-
3GainND
HMCN1p.T2545I
Missense
SNP
0.200
3GainND
HMG20A-
-
-
-
3GainND
HMGB2-
-
-
-
3GainND
HMGB4-
-
-
-
3GainND
HMGCL-
-
-
-
3GainND
HMGCRp.K401N
Missense
SNP
0.377
2-ND
HMGCS1-
-
-
-
3GainND
HMGN2-
-
-
-
3GainND
HMGXB4p.P379S
Missense
SNP
0.250
3GainND
HMOX1-
-
-
-
3GainND
HNF4Gp.E360K
Missense
SNP
0.480
2-ND
HNRNPA2B1-
-
-
-
3GainND
HNRNPCL1-
-
-
-
3GainND
HNRNPCL2-
-
-
-
3GainND
HNRNPCL3-
-
-
-
3GainND
HNRNPCL4-
-
-
-
3GainND
HNRNPD-
-
-
-
1LossND
HNRNPDL-
-
-
-
1LossND
HNRNPF-
-
-
-
1LossND
HNRNPR-
-
-
-
3GainND
HNRNPU-
-
-
-
3GainND
HOMER2-
-
-
-
3GainND
HOMEZ-
-
-
-
1LossND
HORMAD2-
-
-
-
3GainND
HOXA1-
-
-
-
3GainND
HOXA10-
-
-
-
3GainND
HOXA11-
-
-
-
3GainND
HOXA13-
-
-
-
3GainND
HOXA2-
-
-
-
3GainND
HOXA3-
-
-
-
3GainND
HOXA4-
-
-
-
3GainND
HOXA5-
-
-
-
3GainND
HOXA6-
-
-
-
3GainND
HOXA7-
-
-
-
3GainND
HOXA9-
-
-
-
3GainND
HOXB1p.P64S
Missense
SNP
0.679
2-ND
HP-
-
-
-
1LossND
HP1BP3-
-
-
-
3GainND
HPCA-
-
-
-
3GainND
HPF1-
-
-
-
3GainND
HPGD-
-
-
-
3GainND
HPGDS-
-
-
-
1LossND
HPR-
-
-
-
1LossND
HPRT1p.D13E
Missense
SNP
1.000
NDNDND
HPS4-
-
-
-
3GainND
HPSE-
-
-
-
1LossND
HRCp.E188K
Missense
SNP
0.500
2-ND
HRCT1-
-
-
-
1LossND
HRH3p.E395K
Missense
SNP
0.465
2-ND
HS6ST2p.S109F
Missense
DNP
0.448
NDNDND
HSBP1-
-
-
-
1LossND
HSCB-
-
-
-
3GainND
HSD11B1-
-
-
-
3GainND
HSD11B2-
-
-
-
1LossND
HSD17B11-
-
-
-
1LossND
HSD17B13-
-
-
-
1LossND
HSD17B2-
-
-
-
1LossND
HSD17B7-
-
-
-
3GainND
HSDL1-
-
-
-
1LossND
HSF4-
-
-
-
1LossND
HSH2Dp.P289L
Missense
SNP
0.474
2-ND
HSPA12Ap.S195F
Missense
SNP
0.651
2-ND
HSPA14-
-
-
-
1LossND
HSPA4L-
-
-
-
3GainND
HSPA6-
-
-
-
3GainND
HSPB1-
-
-
-
3GainND
HSPB3-
-
-
-
3GainND
HSPB7-
-
-
-
3GainND
HSPG2-
-
-
-
3GainND
HTR1D-
-
-
-
3GainND
HTR3Cp.G368R
Missense
SNP
0.127
2-ND
HTR3Ep.S12F
p.G384E
Missense
Missense
SNP
SNP
0.191
0.602
2-ND
HTR4p.T385P
Missense
SNP
0.309
2-ND
HTR5Ap.T274R
Missense
SNP
0.351
3GainND
HTR6-
-
-
-
3GainND
HTRA1p.S441F
Missense
SNP
1.000
2-ND
HTT-
-
-
-
3GainND
HUS1-
-
-
-
3GainND
HYAL4-
-
-
-
3GainND
HYDINp.R375Q
Missense
SNP
0.961
1LossND
HYKK-
-
-
-
3GainND
IAPPp.S52F
Missense
SNP
0.339
2-ND
IARS2-
-
-
-
3GainND
IBA57-
-
-
-
3GainND
IBSP-
-
-
-
1LossND
ICA1p.P9S
Missense
SNP
0.340
3GainND
ICE1p.S949F
Missense
SNP
0.268
2-ND
ICE2-
-
-
-
3GainND
ICMT-
-
-
-
3GainND
ID3-
-
-
-
3GainND
IDH2-
-
-
-
3GainND
IDH3A-
-
-
-
3GainND
IDH3Bp.P261L
Missense
SNP
0.298
2-ND
IDI1-
-
-
-
1LossND
IDI2-
-
-
-
1LossND
IER5-
-
-
-
3GainND
IFFO2-
-
-
-
3GainND
IFI16-
-
-
-
3GainND
IFI6-
-
-
-
3GainND
IFIT3p.H425Y
Missense
SNP
0.587
2-ND
IFNA1-
-
-
-
0DelND
IFNA10-
-
-
-
0DelND
IFNA13-
-
-
-
0DelND
IFNA14-
-
-
-
0DelND
IFNA16-
-
-
-
0DelND
IFNA17-
-
-
-
0DelND
IFNA2-
-
-
-
0DelND
IFNA21-
-
-
-
0DelND
IFNA4-
-
-
-
0DelND
IFNA5-
-
-
-
0DelND
IFNA6-
-
-
-
0DelND
IFNA7-
-
-
-
0DelND
IFNA8-
-
-
-
0DelND
IFNB1-
-
-
-
0DelND
IFNE-
-
-
-
0DelND
IFNK-
-
-
-
0DelND
IFNLR1-
-
-
-
3GainND
IFNW1-
-
-
-
0DelND
IFRD1-
-
-
-
3GainND
IFT22p.E98K
Missense
SNP
0.663
3GainND
IFT27-
-
-
-
3GainND
IFT74-
-
-
-
0DelND
IGDCC3-
-
-
-
3GainND
IGDCC4-
-
-
-
3GainND
IGF1R-
-
-
-
3GainND
IGF2BP1p.R452C
Missense
SNP
0.644
2-ND
IGF2BP3-
-
-
-
3GainND
IGFBP1-
-
-
-
3GainND
IGFBP3-
-
-
-
3GainND
IGFBPL1-
-
-
-
1LossND
IGFN1-
-
-
-
3GainND
IGHA1p.A133T
Missense
SNP
0.707
NDNDND
IGHV3-11p.M102L
Missense
SNP
0.288
NDNDND
IGLL1-
-
-
-
3GainND
IGLL5-
-
-
-
3GainND
IGLV10-54-
-
-
-
3GainND
IGSF21-
-
-
-
3GainND
IGSF8-
-
-
-
3GainND
IGSF9p.V639I
Missense
SNP
0.806
3GainND
IKBKE-
-
-
-
3GainND
IKZF1-
-
-
-
3GainND
IL10-
-
-
-
3GainND
IL11RA-
-
-
-
0DelND
IL12Bp.E221K
Missense
SNP
0.330
2-ND
IL15-
-
-
-
3GainND
IL15RA-
-
-
-
1LossND
IL16-
-
-
-
3GainND
IL17C-
-
-
-
1LossND
IL17RA-
-
-
-
3GainND
IL17RCp.H160Y
Missense
SNP
0.460
2-ND
IL19-
-
-
-
3GainND
IL2-
-
-
-
1LossND
IL20-
-
-
-
3GainND
IL21-
-
-
-
1LossND
IL22RA1-
-
-
-
3GainND
IL24-
-
-
-
3GainND
IL25p.V27I
Missense
SNP
0.618
1LossND
IL2RA-
-
-
-
1LossND
IL2RB-
-
-
-
3GainND
IL31RA-
-
-
-
3GainND
IL33-
-
-
-
0DelND
IL34-
-
-
-
1LossND
IL6-
-
-
-
3GainND
IL6R-
-
-
-
3GainND
IL6ST-
-
-
-
3GainND
ILDR1p.S478F
Missense
SNP
0.496
2-ND
ILDR2-
-
-
-
3GainND
ILF2-
-
-
-
3GainND
IMMP2L-
-
-
-
3GainND
IMP3-
-
-
-
3GainND
IMPDH1p.S537F
Missense
SNP
0.651
3GainND
INAVA-
-
-
-
3GainND
ING2-
-
-
-
3GainND
ING3-
-
-
-
3GainND
INHBA-
-
-
-
3GainND
INMT-
-
-
-
3GainND
INMT-MINDY4-
-
-
-
3GainND
INPP4B-
-
-
-
3GainND
INPP5A-
-
-
-
1LossND
INPP5Dp.S263P
Missense
SNP
0.240
2-ND
INPP5J-
-
-
-
3GainND
INSIG1-
-
-
-
3GainND
INSL4-
-
-
-
0DelND
INSL6-
-
-
-
0DelND
INSRRp.E1030K
Missense
SNP
0.870
3GainND
INSYN1-
-
-
-
3GainND
INTS1-
-
-
-
3GainND
INTS11-
-
-
-
3GainND
INTS12-
-
-
-
1LossND
INTS14-
-
-
-
3GainND
INTS3-
-
-
-
3GainND
INTS4p.P107L
Missense
SNP
0.713
2-ND
INTS7-
-
-
-
3GainND
INTU-
-
-
-
3GainND
IPMK-
-
-
-
1LossND
IPO9-
-
-
-
3GainND
IPPp.G472E
Missense
SNP
0.196
2-ND
IQCC-
-
-
-
3GainND
IQCE-
-
-
-
3GainND
IQCH-
-
-
-
3GainND
IQGAP1-
-
-
-
3GainND
IQGAP3-
-
-
-
3GainND
IQUB-
-
-
-
3GainND
IRAK3p.H166Y
Missense
SNP
0.605
2-ND
IREB2-
-
-
-
3GainND
IRF2-
-
-
-
3GainND
IRF2BP2-
-
-
-
3GainND
IRF5-
-
-
-
3GainND
IRF6-
-
-
-
3GainND
IRF8-
-
-
-
1LossND
IRX3-
-
-
-
1LossND
IRX5-
-
-
-
1LossND
IRX6-
-
-
-
1LossND
ISG15-
-
-
-
3GainND
ISG20-
-
-
-
3GainND
ISG20L2-
-
-
-
3GainND
ISL1-
-
-
-
3GainND
ISL2-
-
-
-
3GainND
ISLR-
-
-
-
3GainND
ISLR2-
-
-
-
3GainND
ISPD-
-
-
-
3GainND
IST1-
-
-
-
1LossND
ISX-
-
-
-
3GainND
ITFG1-
-
-
-
1LossND
ITGA1-
-
-
-
3GainND
ITGA11-
-
-
-
3GainND
ITGA2-
-
-
-
3GainND
ITGA2Bp.X1021_splice
Splice_Site
SNP
0.287
2-ND
ITGA4p.R261W
p.G539E
Missense
Missense
SNP
SNP
0.592
0.493
2-ND
ITGA5p.S785Y
Missense
SNP
0.648
2-ND
ITGA7p.S442N
Missense
SNP
0.604
2-ND
ITGA8-
-
-
-
1LossND
ITGB1-
-
-
-
1LossND
ITGB6p.G26V
Missense
SNP
0.543
2-ND
ITGB8-
-
-
-
3GainND
ITGBL1p.G203E
Missense
SNP
0.352
2-ND
ITIH2p.L13F
Missense
SNP
0.586
1LossND
ITIH5-
-
-
-
1LossND
ITKp.G452R
Missense
SNP
0.317
2-ND
ITLN1-
-
-
-
3GainND
ITLN2-
-
-
-
3GainND
ITPKB-
-
-
-
3GainND
ITPRID1-
-
-
-
3GainND
ITSN2p.P151L
Missense
SNP
0.179
2-ND
IVNS1ABP-
-
-
-
3GainND
IZUMO3-
-
-
-
0DelND
JADE1-
-
-
-
3GainND
JADE2p.V330G
Missense
SNP
0.353
2-ND
JAK2-
-
-
-
0DelND
JAKMIP3-
-
-
-
1LossND
JARID2p.P687L
p.P766L
Missense
Missense
SNP
SNP
0.669
0.307
2-ND
JAZF1-
-
-
-
3GainND
JCAD-
-
-
-
1LossND
JMJD4-
-
-
-
3GainND
JOSD1-
-
-
-
3GainND
JPH3-
-
-
-
1LossND
JPH4-
-
-
-
1LossND
JTB-
-
-
-
3GainND
KALRNp.P1649S
Missense
SNP
0.581
2-ND
KANK1-
-
-
-
0DelND
KARS-
-
-
-
1LossND
KAT14p.Q275E
Missense
SNP
0.502
2-ND
KAT6Bp.S1867F
Missense
SNP
0.595
2-ND
KATNB1-
-
-
-
1LossND
KAZNp.V391G
Missense
SNP
0.582
3GainND
KBTBD13-
-
-
-
3GainND
KBTBD2-
-
-
-
3GainND
KCNA1p.S390F
Missense
SNP
0.357
2-ND
KCNA6p.G435E
Missense
SNP
0.404
2-ND
KCNA7p.P366L
Missense
SNP
0.501
2-ND
KCNAB2-
-
-
-
3GainND
KCNB1p.G379E
p.E130K
Missense
Missense
SNP
SNP
0.195
0.267
2-ND
KCNC3p.V374M
Missense
SNP
0.475
2-ND
KCND1p.E142K
Missense
SNP
0.490
NDNDND
KCND2-
-
-
-
3GainND
KCND3p.E72K
Missense
DNP
0.724
2-ND
KCNF1p.E323K
Missense
SNP
0.452
2-ND
KCNG4-
-
-
-
1LossND
KCNH1p.S94F
Missense
SNP
0.779
3GainND
KCNH2-
-
-
-
3GainND
KCNH5p.P953S
p.P701S
p.S594F
p.G434E
p.S142L
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.306
0.628
0.564
0.284
0.390
2-ND
KCNH8p.S1031L
Missense
SNP
0.252
2-ND
KCNJ10-
-
-
-
3GainND
KCNJ4-
-
-
-
3GainND
KCNJ9-
-
-
-
3GainND
KCNK1-
-
-
-
3GainND
KCNK2-
-
-
-
3GainND
KCNMB2p.M206I
Missense
SNP
0.510
2-ND
KCNN2p.P525S
Missense
SNP
0.364
2-ND
KCNN3-
-
-
-
3GainND
KCNT2-
-
-
-
3GainND
KCNV2-
-
-
-
0DelND
KCP-
-
-
-
3GainND
KCTD17-
-
-
-
3GainND
KCTD19-
-
-
-
1LossND
KCTD3-
-
-
-
3GainND
KCTD7-
-
-
-
3GainND
KDELR2-
-
-
-
3GainND
KDELR3-
-
-
-
3GainND
KDF1-
-
-
-
3GainND
KDM1A-
-
-
-
3GainND
KDM4C-
-
-
-
0DelND
KDM5B-
-
-
-
3GainND
KDRp.S1100F
p.R1032Q
Missense
Missense
SNP
SNP
0.573
0.203
2-ND
KELp.S318F
p.S277F
Missense
Missense
SNP
SNP
0.500
0.141
NDNDND
KHDC1Lp.D92N
Missense
SNP
0.311
2-ND
KHDC4-
-
-
-
3GainND
KHDRBS1-
-
-
-
3GainND
KHDRBS2p.E93K
Missense
SNP
0.282
2-ND
KIAA0040-
-
-
-
3GainND
KIAA0319p.R887Q
Missense
SNP
0.500
2-ND
KIAA0319L-
-
-
-
3GainND
KIAA0355p.R874Q
Missense
SNP
0.571
2-ND
KIAA0408p.S469L
Missense
SNP
0.276
2-ND
KIAA0513p.H316Y
Missense
SNP
0.587
1LossND
KIAA0895-
-
-
-
3GainND
KIAA0895L-
-
-
-
1LossND
KIAA1024-
-
-
-
3GainND
KIAA1107p.L872K
Missense
DNP
0.746
NDNDND
KIAA1109-
-
-
-
1LossND
KIAA1217-
-
-
-
1LossND
KIAA1324L-
-
-
-
4GainND
KIAA1522-
-
-
-
3GainND
KIAA1549p.A891V
Missense
SNP
0.302
NDNDND
KIAA1551p.E842K
p.P917S
Missense
Missense
SNP
SNP
0.270
0.380
2-ND
KIAA1614-
-
-
-
3GainND
KIAA1671-
-
-
-
3GainND
KIAA2013-
-
-
-
3GainND
KIAA2022p.P683S
p.E518K
Missense
Missense
SNP
SNP
0.484
0.991
NDNDND
KIAA2026-
-
-
-
0DelND
KIF14-
-
-
-
3GainND
KIF15p.S327F
Missense
SNP
0.512
2-ND
KIF17p.E459K
Missense
SNP
0.436
3GainND
KIF1B-
-
-
-
3GainND
KIF21B-
-
-
-
3GainND
KIF23-
-
-
-
3GainND
KIF24p.E822K
Missense
SNP
1.000
0DelND
KIF26B-
-
-
-
3GainND
KIF5B-
-
-
-
1LossND
KIF5Cp.E518K
Missense
SNP
0.237
2-ND
KIF6p.R242Q
Missense
SNP
0.288
2-ND
KIF7-
-
-
-
3GainND
KIFAP3-
-
-
-
3GainND
KIFC3-
-
-
-
1LossND
KIN-
-
-
-
1LossND
KIR3DL1p.S346L
Missense
SNP
0.209
2-ND
KIR3DL3p.K393*
Nonsense
SNP
0.497
2-ND
KIRREL1-
-
-
-
3GainND
KISS1-
-
-
-
3GainND
KLF14-
-
-
-
3GainND
KLF5p.LP343FS
Missense
DNP
0.641
2-ND
KLF6-
-
-
-
1LossND
KLHDC10-
-
-
-
3GainND
KLHDC4-
-
-
-
1LossND
KLHDC7Ap.E635K
Missense
SNP
0.594
3GainND
KLHDC7Bp.G234R
Missense
SNP
0.194
2-ND
KLHDC8A-
-
-
-
3GainND
KLHDC9-
-
-
-
3GainND
KLHL12-
-
-
-
3GainND
KLHL17-
-
-
-
3GainND
KLHL18p.P321S
Missense
SNP
0.486
2-ND
KLHL2-
-
-
-
3GainND
KLHL20-
-
-
-
3GainND
KLHL21-
-
-
-
3GainND
KLHL22-
-
-
-
3GainND
KLHL25-
-
-
-
3GainND
KLHL36-
-
-
-
1LossND
KLHL40p.A207V
Missense
SNP
0.309
2-ND
KLHL7-
-
-
-
3GainND
KLHL8-
-
-
-
1LossND
KLHL9-
-
-
-
0DelND
KLKB1p.S151L
Missense
SNP
0.222
3GainND
KLRG1p.P179S
Missense
SNP
0.641
2-ND
KMOp.M317I
Missense
SNP
0.556
3GainND
KMT2Bp.P171S
Missense
SNP
0.520
2-ND
KMT2C-
-
-
-
3GainND
KMT2Dp.T2332I
Missense
SNP
0.612
2-ND
KMT2Ep.E1388K
Missense
SNP
0.595
3GainND
KMT5Ap.G28N
Missense
DNP
0.657
2-ND
KNDC1-
-
-
-
1LossND
KPNA6-
-
-
-
3GainND
KPNA7-
-
-
-
3GainND
KRBA1-
-
-
-
3GainND
KREMEN1-
-
-
-
3GainND
KRIT1-
-
-
-
4GainND
KRT12p.R158*
Nonsense
SNP
0.302
2-ND
KRT2p.G571E
Missense
SNP
0.336
2-ND
KRT28p.H135Y
Missense
SNP
0.602
2-ND
KRT33Bp.E185K
Missense
SNP
0.526
2-ND
KRT6Cp.D323N
Missense
SNP
0.312
2-ND
KRT76p.G154R
Missense
SNP
0.623
2-ND
KRT84p.E294K
Missense
SNP
0.270
2-ND
KRTAP1-4p.G48D
Missense
SNP
0.229
NDNDND
KRTAP4-6p.S4F
Missense
SNP
0.316
2-ND
KRTAP6-2p.G45D
Missense
SNP
0.297
2-ND
KRTCAP2-
-
-
-
3GainND
KSR1p.S111L
Missense
SNP
0.306
2-ND
L3MBTL2-
-
-
-
3GainND
LACTB-
-
-
-
3GainND
LACTB2p.I274K
Missense
SNP
0.329
2-ND
LACTBL1-
-
-
-
3GainND
LAD1p.S375F
p.D43N
Missense
Missense
SNP
SNP
0.852
0.308
3GainND
LAMA2p.R1319*
Nonsense
SNP
0.321
2-ND
LAMA5p.G1723E
Missense
SNP
0.516
2-ND
LAMB1-
-
-
-
3GainND
LAMB3-
-
-
-
3GainND
LAMB4-
-
-
-
3GainND
LAMC1-
-
-
-
3GainND
LAMC2-
-
-
-
3GainND
LAMTOR2-
-
-
-
3GainND
LAMTOR3-
-
-
-
1LossND
LAMTOR4-
-
-
-
3GainND
LANCL2-
-
-
-
3GainND
LAPTM5-
-
-
-
3GainND
LARGE1-
-
-
-
3GainND
LARGE2p.V517I
Missense
SNP
0.339
2-ND
LARP1B-
-
-
-
3GainND
LARP4B-
-
-
-
1LossND
LARP6-
-
-
-
3GainND
LARP7-
-
-
-
1LossND
LAT2-
-
-
-
4GainND
LATS2p.S274F
Missense
SNP
0.594
2-ND
LAX1-
-
-
-
3GainND
LBR-
-
-
-
3GainND
LCAT-
-
-
-
1LossND
LCE1Cp.P39S
Missense
SNP
0.207
2-ND
LCE5Ap.S41L
Missense
SNP
0.765
2-ND
LCK-
-
-
-
3GainND
LCORp.I238N
p.A1200T
Missense
Missense
SNP
SNP
0.362
0.309
2-ND
LCTL-
-
-
-
3GainND
LDHAL6B-
-
-
-
3GainND
LDHD-
-
-
-
1LossND
LDLRAD2-
-
-
-
3GainND
LDLRAP1-
-
-
-
3GainND
LEF1-
-
-
-
1LossND
LEFTY1-
-
-
-
3GainND
LEFTY2-
-
-
-
3GainND
LELP1-
-
-
-
3GainND
LEMD1-
-
-
-
3GainND
LENEP-
-
-
-
3GainND
LENG8p.T332I
Missense
SNP
0.562
2-ND
LEP-
-
-
-
3GainND
LFNG-
-
-
-
3GainND
LGALS1-
-
-
-
3GainND
LGALS2-
-
-
-
3GainND
LGALS8-
-
-
-
3GainND
LGR6p.S163F
Missense
SNP
0.102
3GainND
LHFPL3-
-
-
-
3GainND
LHX4-
-
-
-
3GainND
LHX9p.R271Q
Missense
SNP
0.213
3GainND
LIF-
-
-
-
3GainND
LIFR-
-
-
-
3GainND
LILRA4p.P181S
Missense
SNP
0.514
2-ND
LILRB1p.D260N
Missense
SNP
0.250
2-ND
LIMK1-
-
-
-
3GainND
LIMK2-
-
-
-
3GainND
LIMS1p.P108S
Missense
SNP
0.275
2-ND
LIN28A-
-
-
-
3GainND
LIN54-
-
-
-
1LossND
LIN9-
-
-
-
3GainND
LINC02203-
-
-
-
3GainND
LINGO1-
-
-
-
3GainND
LINGO2-
-
-
-
0DelND
LINS1-
-
-
-
3GainND
LIPC-
-
-
-
3GainND
LIPFp.D159N
Missense
SNP
0.268
2-ND
LMAN1L-
-
-
-
3GainND
LMAN2Lp.S279F
Missense
SNP
0.451
2-ND
LMBR1-
-
-
-
3GainND
LMLN2-
-
-
-
1LossND
LMNAp.E203K
Missense
DNP
0.643
3GainND
LMO7DNp.W9*
Nonsense
SNP
0.599
NDNDND
LMOD1-
-
-
-
3GainND
LMOD2-
-
-
-
3GainND
LMTK2-
-
-
-
3GainND
LMX1A-
-
-
-
3GainND
LONP2-
-
-
-
1LossND
LOR-
-
-
-
3GainND
LOXHD1p.D531N
Missense
SNP
0.282
2-ND
LOXL1-
-
-
-
3GainND
LPCAT2-
-
-
-
1LossND
LPGAT1-
-
-
-
3GainND
LRAT-
-
-
-
1LossND
LRBA-
-
-
-
1LossND
LRCH4-
-
-
-
3GainND
LRFN5p.S394F
Missense
SNP
0.299
2-ND
LRIT3-
-
-
-
1LossND
LRP1p.L2656F
p.H4116Y
Missense
Missense
SNP
SNP
0.342
0.641
2-ND
LRP1Bp.W4001*
p.R2495Q
p.S1102F
Nonsense
Missense
Missense
SNP
SNP
SNP
0.289
0.398
0.209
2-ND
LRP2p.W4295*
p.R1206C
Nonsense
Missense
SNP
SNP
0.191
0.255
2-ND
LRP2BP-
-
-
-
3GainND
LRP5L-
-
-
-
3GainND
LRRC15p.N249T
Missense
SNP
0.245
2-ND
LRRC17-
-
-
-
3GainND
LRRC18-
-
-
-
1LossND
LRRC19-
-
-
-
0DelND
LRRC27-
-
-
-
1LossND
LRRC28-
-
-
-
3GainND
LRRC29-
-
-
-
1LossND
LRRC30p.P87S
Missense
SNP
0.536
2-ND
LRRC31p.D294N
Missense
SNP
0.575
2-ND
LRRC36-
-
-
-
1LossND
LRRC37A3p.S146L
Missense
SNP
0.548
2-ND
LRRC38-
-
-
-
3GainND
LRRC4-
-
-
-
3GainND
LRRC47-
-
-
-
3GainND
LRRC49-
-
-
-
3GainND
LRRC52-
-
-
-
3GainND
LRRC53p.D291N
Missense
SNP
0.854
2-ND
LRRC61p.A78V
Missense
DNP
0.375
3GainND
LRRC71-
-
-
-
3GainND
LRRC72-
-
-
-
3GainND
LRRC74B-
-
-
-
3GainND
LRRC75B-
-
-
-
3GainND
LRRCC1p.G159E
Missense
SNP
0.214
2-ND
LRRD1-
-
-
-
3GainND
LRRIQ3p.S217L
Missense
SNP
0.316
2-ND
LRRIQ4p.T189I
Missense
SNP
0.476
2-ND
LRRK1-
-
-
-
3GainND
LRRN2p.G658S
Missense
SNP
0.825
3GainND
LRRN3-
-
-
-
3GainND
LRWD1-
-
-
-
3GainND
LSG1p.K450E
Missense
SNP
0.442
2-ND
LSM10-
-
-
-
3GainND
LSM12p.P187L
Missense
SNP
0.640
2-ND
LSM14Ap.R42*
Nonsense
SNP
0.230
2-ND
LSM5-
-
-
-
3GainND
LSM6-
-
-
-
3GainND
LSM8-
-
-
-
3GainND
LSMEM1-
-
-
-
3GainND
LTBP4p.P1491L
Missense
SNP
0.500
2-ND
LTKp.S789*
Nonsense
SNP
1.000
2-ND
LURAP1L-
-
-
-
0DelND
LUZP1-
-
-
-
3GainND
LUZP2p.M206I
Missense
SNP
0.359
2-ND
LUZP4p.G134E
Missense
SNP
1.000
NDNDND
LY75p.E1402K
p.V474T
Missense
Missense
SNP
DNP
0.533
0.381
2-ND
LY9-
-
-
-
3GainND
LYPD8-
-
-
-
3GainND
LYPLA2-
-
-
-
3GainND
LYPLAL1-
-
-
-
3GainND
LYSMD4-
-
-
-
3GainND
LYST-
-
-
-
3GainND
LYZL1-
-
-
-
1LossND
LYZL2-
-
-
-
1LossND
LZIC-
-
-
-
3GainND
LZTR1p.R630L
Missense
SNP
0.519
3GainND
MAB21L2-
-
-
-
1LossND
MACC1-
-
-
-
3GainND
MACO1-
-
-
-
3GainND
MAD1L1-
-
-
-
3GainND
MAD2L1-
-
-
-
1LossND
MAD2L2-
-
-
-
3GainND
MAEL-
-
-
-
3GainND
MAF-
-
-
-
1LossND
MAFF-
-
-
-
3GainND
MAFK-
-
-
-
3GainND
MAGp.A6T
Missense
SNP
0.236
2-ND
MAGEL2-
-
-
-
3GainND
MAGI1p.E354K
Missense
SNP
0.458
2-ND
MAGI2-
-
-
-
4GainND
MALRD1-
-
-
-
1LossND
MALSU1-
-
-
-
3GainND
MAML1p.V111D
Missense
SNP
0.718
2-ND
MAML3-
-
-
-
3GainND
MAMLD1p.S938L
Missense
SNP
0.488
NDNDND
MAN1C1-
-
-
-
3GainND
MAN2A2-
-
-
-
3GainND
MAN2B1p.A656V
p.T243I
Missense
Missense
DNP
SNP
0.457
0.221
2-ND
MAN2C1-
-
-
-
3GainND
MANBA-
-
-
-
1LossND
MAP10-
-
-
-
3GainND
MAP1Ap.A507V
Missense
SNP
1.000
2-ND
MAP1Bp.E1392K
Missense
SNP
0.278
2-ND
MAP1LC3B-
-
-
-
1LossND
MAP1LC3C-
-
-
-
3GainND
MAP2K1-
-
-
-
3GainND
MAP2K5-
-
-
-
3GainND
MAP3K1-
-
-
-
3GainND
MAP3K21-
-
-
-
3GainND
MAP3K5p.F897Y
Missense
SNP
0.662
2-ND
MAP3K6-
-
-
-
3GainND
MAP3K8-
-
-
-
1LossND
MAP4p.S749F
Missense
SNP
0.578
2-ND
MAP7D1p.P492L
Missense
SNP
0.440
3GainND
MAP9-
-
-
-
1LossND
MAPK1-
-
-
-
3GainND
MAPK10-
-
-
-
1LossND
MAPK11p.G31D
Missense
SNP
0.252
2-ND
MAPK3p.H327Q
Missense
SNP
0.330
2-ND
MAPK8-
-
-
-
1LossND
MAPKAPK2-
-
-
-
3GainND
MARC1-
-
-
-
3GainND
MARC2-
-
-
-
3GainND
MARCH1-
-
-
-
3GainND
MARCH10p.S63F
Missense
SNP
0.622
2-ND
MARCH8-
-
-
-
1LossND
MARCKSL1-
-
-
-
3GainND
MARCOp.G403E
Missense
SNP
0.523
2-ND
MARK1-
-
-
-
3GainND
MARVELD3-
-
-
-
1LossND
MASP2-
-
-
-
3GainND
MASTL-
-
-
-
1LossND
MATN1-
-
-
-
3GainND
MAZp.X147_splice
Splice_Site
SNP
0.527
2-ND
MB-
-
-
-
3GainND
MBL2-
-
-
-
1LossND
MBLAC1-
-
-
-
3GainND
MBTPS1-
-
-
-
1LossND
MC1R-
-
-
-
1LossND
MCF2p.P454S
Missense
SNP
0.511
NDNDND
MCHR1-
-
-
-
3GainND
MCIDAS-
-
-
-
3GainND
MCM10-
-
-
-
1LossND
MCM5-
-
-
-
3GainND
MCM7-
-
-
-
3GainND
MCOLN3p.H232N
p.R231S
Missense
Missense
SNP
SNP
0.750
0.765
2-ND
MCTP2-
-
-
-
3GainND
MCUB-
-
-
-
1LossND
MDFIC-
-
-
-
3GainND
MDGA1p.D903Y
Missense
SNP
0.437
2-ND
MDGA2p.R207*
Nonsense
SNP
0.667
2-ND
MDH2-
-
-
-
3GainND
MDM4-
-
-
-
3GainND
ME1p.R254C
Missense
SNP
0.616
2-ND
ME3p.Y243N
Missense
SNP
0.525
2-ND
MEAF6-
-
-
-
3GainND
MECOMp.E722K
Missense
SNP
0.522
2-ND
MECR-
-
-
-
3GainND
MED12Lp.P2040S
Missense
SNP
0.500
2-ND
MED13p.P634L
Missense
SNP
0.298
2-ND
MED15-
-
-
-
3GainND
MED18-
-
-
-
3GainND
MEF2A-
-
-
-
3GainND
MEF2D-
-
-
-
3GainND
MEGF10p.G426E
Missense
SNP
0.256
2-ND
MEGF11-
-
-
-
3GainND
MEGF6-
-
-
-
3GainND
MEIG1-
-
-
-
1LossND
MELK-
-
-
-
1LossND
MELTFp.S268F
Missense
SNP
0.580
2-ND
MEOX1p.P97L
Missense
SNP
0.228
2-ND
MEOX2-
-
-
-
3GainND
MEPCE-
-
-
-
3GainND
MEPE-
-
-
-
1LossND
MERTKp.F115L
Missense
SNP
0.237
2-ND
MESD-
-
-
-
3GainND
MESP1-
-
-
-
3GainND
MESP2-
-
-
-
3GainND
MEST-
-
-
-
3GainND
MET-
-
-
-
3GainND
METAP1-
-
-
-
1LossND
METTL11B-
-
-
-
3GainND
METTL13-
-
-
-
3GainND
METTL14-
-
-
-
1LossND
METTL18-
-
-
-
3GainND
METTL27-
-
-
-
3GainND
METTL2B-
-
-
-
3GainND
METTL4p.P320S
Missense
SNP
0.208
2-ND
MEX3A-
-
-
-
3GainND
MEX3B-
-
-
-
3GainND
MFAP2-
-
-
-
3GainND
MFAP3L-
-
-
-
3GainND
MFAP5p.E133K
Missense
SNP
0.696
2-ND
MFGE8-
-
-
-
3GainND
MFN2-
-
-
-
3GainND
MFNG-
-
-
-
3GainND
MFRPp.E544K
Missense
SNP
0.614
2-ND
MFSD10-
-
-
-
3GainND
MFSD4A-
-
-
-
3GainND
MFSD8-
-
-
-
3GainND
MGAMp.K134T
p.G294R
p.P1329S
p.P1514S
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.159
0.665
0.341
0.378
NDNDND
MGAM2p.S560F
p.E1092K
p.G1667R
Missense
Missense
Missense
SNP
SNP
SNP
0.143
0.295
0.268
NDNDND
MGARP-
-
-
-
3GainND
MGAT3-
-
-
-
3GainND
MGAT4D-
-
-
-
3GainND
MGST2-
-
-
-
3GainND
MGST3-
-
-
-
3GainND
MIA3-
-
-
-
3GainND
MIB2-
-
-
-
3GainND
MICAL3-
-
-
-
3GainND
MICALL1-
-
-
-
3GainND
MICALL2-
-
-
-
3GainND
MIEF1-
-
-
-
3GainND
MIER3-
-
-
-
3GainND
MIF-
-
-
-
3GainND
MIIP-
-
-
-
3GainND
MINDY2-
-
-
-
3GainND
MINDY3-
-
-
-
1LossND
MINDY4-
-
-
-
3GainND
MINOS1-
-
-
-
3GainND
MINOS1-NBL1-
-
-
-
3GainND
MIOS-
-
-
-
3GainND
MIXL1-
-
-
-
3GainND
MKLN1-
-
-
-
3GainND
MKRN3p.P64S
Missense
SNP
0.123
3GainND
MKX-
-
-
-
1LossND
MLANA-
-
-
-
0DelND
MLKL-
-
-
-
1LossND
MLLT10-
-
-
-
1LossND
MLLT3-
-
-
-
0DelND
MLXIPL-
-
-
-
3GainND
MLYCD-
-
-
-
1LossND
MMAA-
-
-
-
3GainND
MMD2-
-
-
-
3GainND
MMEL1-
-
-
-
3GainND
MMP11-
-
-
-
3GainND
MMP15-
-
-
-
1LossND
MMP2-
-
-
-
1LossND
MMP23B-
-
-
-
3GainND
MMP24p.D318N
Missense
SNP
0.526
2-ND
MMRN1-
-
-
-
1LossND
MN1-
-
-
-
3GainND
MND1-
-
-
-
1LossND
MNDA-
-
-
-
3GainND
MNS1-
-
-
-
3GainND
MNX1-
-
-
-
3GainND
MOB3B-
-
-
-
0DelND
MOCOSp.L328R
Missense
SNP
0.470
2-ND
MOCS1p.D340N
Missense
SNP
0.696
2-ND
MOCS2-
-
-
-
3GainND
MOGAT3-
-
-
-
3GainND
MOGSp.R535*
Nonsense
DNP
0.458
2-ND
MON1B-
-
-
-
1LossND
MORC1p.K911I
p.E590K
p.N413Y
p.M250I
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.430
0.245
0.481
0.170
2-ND
MORC2-
-
-
-
3GainND
MORF4L1-
-
-
-
3GainND
MORN1-
-
-
-
3GainND
MOSPD3-
-
-
-
3GainND
MOV10L1p.R440Q
Missense
SNP
0.259
2-ND
MPC2-
-
-
-
3GainND
MPDZ-
-
-
-
0DelND
MPHOSPH6-
-
-
-
1LossND
MPI-
-
-
-
3GainND
MPLKIP-
-
-
-
3GainND
MPP6-
-
-
-
3GainND
MPP7-
-
-
-
1LossND
MPST-
-
-
-
3GainND
MPZ-
-
-
-
3GainND
MPZL1-
-
-
-
3GainND
MR1-
-
-
-
3GainND
MRC1-
-
-
-
1LossND
MRM2-
-
-
-
3GainND
MROH2B-
-
-
-
3GainND
MROH9p.L177V
p.G761E
Missense
Missense
SNP
SNP
0.341
0.333
3GainND
MRPL1-
-
-
-
1LossND
MRPL20-
-
-
-
3GainND
MRPL24-
-
-
-
3GainND
MRPL32-
-
-
-
3GainND
MRPL40-
-
-
-
3GainND
MRPL46-
-
-
-
3GainND
MRPL51p.P18L
Missense
SNP
0.429
2-ND
MRPL55-
-
-
-
3GainND
MRPS11-
-
-
-
3GainND
MRPS14-
-
-
-
3GainND
MRPS15-
-
-
-
3GainND
MRPS17-
-
-
-
3GainND
MRPS18C-
-
-
-
1LossND
MRPS24-
-
-
-
3GainND
MRPS30-
-
-
-
3GainND
MRTFA-
-
-
-
3GainND
MRTO4-
-
-
-
3GainND
MRVI1p.A108T
Missense
SNP
0.199
2-ND
MS4A1p.M71I
Missense
SNP
0.402
2-ND
MS4A3p.G103E
Missense
SNP
0.352
2-ND
MSANTD1-
-
-
-
3GainND
MSMB-
-
-
-
1LossND
MSMO1-
-
-
-
3GainND
MSMP-
-
-
-
1LossND
MSRB2-
-
-
-
1LossND
MSTO1-
-
-
-
3GainND
MT1A-
-
-
-
1LossND
MT1B-
-
-
-
1LossND
MT1E-
-
-
-
1LossND
MT1F-
-
-
-
1LossND
MT1G-
-
-
-
1LossND
MT1H-
-
-
-
1LossND
MT1HL1-
-
-
-
3GainND
MT1M-
-
-
-
1LossND
MT1X-
-
-
-
1LossND
MT2A-
-
-
-
1LossND
MT3-
-
-
-
1LossND
MT4-
-
-
-
1LossND
MTAP-
-
-
-
0DelND
MTERF1-
-
-
-
3GainND
MTERF3p.S126L
Missense
SNP
0.209
2-ND
MTFMT-
-
-
-
3GainND
MTFP1-
-
-
-
3GainND
MTFR1L-
-
-
-
3GainND
MTG1-
-
-
-
1LossND
MTHFR-
-
-
-
3GainND
MTHFS-
-
-
-
3GainND
MTHFSD-
-
-
-
1LossND
MTMR10-
-
-
-
3GainND
MTMR12-
-
-
-
3GainND
MTMR2p.S49F
Missense
SNP
0.671
2-ND
MTMR3-
-
-
-
3GainND
MTNR1A-
-
-
-
3GainND
MTOR-
-
-
-
3GainND
MTPAP-
-
-
-
1LossND
MTR-
-
-
-
3GainND
MTREX-
-
-
-
3GainND
MTSS1L-
-
-
-
1LossND
MTTPp.P526L
Missense
SNP
0.977
1LossND
MTURN-
-
-
-
3GainND
MTUS2p.E466K
p.P543S
Missense
Missense
SNP
SNP
0.298
0.606
2-ND
MTX1-
-
-
-
3GainND
MUC1-
-
-
-
3GainND
MUC12p.E1323K
Missense
SNP
1.000
3GainND
MUC16p.X13826_splice
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
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.513
0.523
0.452
0.216
0.263
0.247
0.224
0.495
0.254
0.511
0.180
0.147
0.486
0.293
0.459
0.485
0.230
0.212
0.496
0.488
0.549
0.615
0.524
0.566
2-ND
MUC17p.S1742L
p.G2336R
p.S3438L
p.S4104F
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.344
0.179
0.163
0.168
3GainND
MUC3A-
-
-
-
3GainND
MUC4p.G4543A
p.T3124I
Missense
Missense
SNP
SNP
0.439
0.200
2-ND
MUL1-
-
-
-
3GainND
MUTp.P234S
Missense
SNP
0.281
2-ND
MVD-
-
-
-
1LossND
MVPp.R456C
Missense
DNP
0.367
2-ND
MX2p.P163S
Missense
SNP
0.255
2-ND
MXRA5p.N1735S
p.K793T
p.S454F
Missense
Missense
Missense
SNP
SNP
SNP
1.000
0.388
0.985
NDNDND
MXRA8-
-
-
-
3GainND
MYBPC3p.G118E
Missense
SNP
0.648
2-ND
MYBPH-
-
-
-
3GainND
MYH1p.E1744Q
p.G1524E
p.R791Q
Missense
Missense
Missense
SNP
SNP
SNP
0.684
0.317
0.371
2-ND
MYH15p.E895D
Missense
SNP
0.565
2-ND
MYH2p.S1476F
Missense
SNP
0.341
2-ND
MYH6p.E1586K
p.E874K
p.E375K
Missense
Missense
Missense
SNP
SNP
SNP
0.349
0.330
0.635
1LossND
MYH7p.E944K
Missense
SNP
0.629
1LossND
MYH9-
-
-
-
3GainND
MYL10-
-
-
-
3GainND
MYL7-
-
-
-
3GainND
MYLK3-
-
-
-
1LossND
MYO15Ap.H422Y
p.P506L
Missense
Missense
SNP
SNP
0.296
0.298
2-ND
MYO18B-
-
-
-
3GainND
MYO1E-
-
-
-
3GainND
MYO1G-
-
-
-
3GainND
MYO3Ap.R973W
Missense
SNP
1.000
1LossND
MYO3Bp.G1090R
Missense
SNP
0.431
2-ND
MYO5Bp.E1255K
Missense
SNP
0.533
2-ND
MYO7Ap.M1644I
Missense
SNP
0.284
2-ND
MYO9A-
-
-
-
1LossND
MYOC-
-
-
-
3GainND
MYOCDp.S891F
Missense
SNP
0.300
2-ND
MYOCOS-
-
-
-
3GainND
MYOG-
-
-
-
3GainND
MYOM2p.E751K
Missense
SNP
0.320
2-ND
MYOM3-
-
-
-
3GainND
MYORG-
-
-
-
0DelND
MYOZ2-
-
-
-
1LossND
MYRFLp.K652I
Missense
SNP
0.400
2-ND
MYSM1p.P558S
Missense
SNP
0.260
2-ND
MYT1Lp.E450K
Missense
SNP
0.514
2-ND
MYZAP-
-
-
-
3GainND
N4BP1-
-
-
-
1LossND
NAA11-
-
-
-
1LossND
NAA15-
-
-
-
3GainND
NAAA-
-
-
-
1LossND
NACAD-
-
-
-
3GainND
NADK-
-
-
-
3GainND
NADK2-
-
-
-
3GainND
NAE1-
-
-
-
1LossND
NAF1-
-
-
-
3GainND
NAIP-
-
-
-
1LossND
NAMPT-
-
-
-
3GainND
NAP1L5-
-
-
-
1LossND
NAPEPLD-
-
-
-
3GainND
NAT16-
-
-
-
3GainND
NAV1-
-
-
-
3GainND
NAXE-
-
-
-
3GainND
NBEAL1p.P2477S
Missense
SNP
0.215
2-ND
NBL1-
-
-
-
3GainND
NBPF1-
-
-
-
3GainND
NBPF20-
-
-
-
1LossND
NBPF3-
-
-
-
3GainND
NCAPD3p.H690Y
Missense
SNP
0.725
2-ND
NCAPG2-
-
-
-
3GainND
NCDN-
-
-
-
3GainND
NCF1-
-
-
-
4GainND
NCF2-
-
-
-
3GainND
NCF4-
-
-
-
3GainND
NCLNp.E7A
Missense
SNP
0.526
2-ND
NCMAP-
-
-
-
3GainND
NCOA2p.R338C
Missense
SNP
0.539
2-ND
NCOA3p.G1152E
Missense
SNP
0.320
2-ND
NCOA4-
-
-
-
1LossND
NCSTN-
-
-
-
3GainND
NDC1p.R644Q
Missense
SNP
0.716
2-ND
NDNp.P83S
Missense
SNP
0.229
3GainND
NDNF-
-
-
-
1LossND
NDRG4-
-
-
-
1LossND
NDST3-
-
-
-
1LossND
NDST4-
-
-
-
1LossND
NDUFA4-
-
-
-
3GainND
NDUFA5-
-
-
-
3GainND
NDUFB6-
-
-
-
0DelND
NDUFC1-
-
-
-
3GainND
NDUFS1p.R166*
Nonsense
DNP
0.407
2-ND
NDUFS2-
-
-
-
3GainND
NDUFS4-
-
-
-
3GainND
NEBL-
-
-
-
1LossND
NECAB2-
-
-
-
1LossND
NECAP2p.W42*
Nonsense
SNP
0.596
3GainND
NECTIN4-
-
-
-
3GainND
NEDD4-
-
-
-
3GainND
NEFH-
-
-
-
3GainND
NEIL1-
-
-
-
3GainND
NEIL3-
-
-
-
3GainND
NEK1-
-
-
-
3GainND
NEK2p.R190C
Missense
SNP
0.806
3GainND
NEK4-
-
-
-
3GainND
NEK7-
-
-
-
3GainND
NELFCDp.L229F
Missense
DNP
0.502
2-ND
NELL2p.G612D
Missense
SNP
0.709
2-ND
NEMP1p.S372F
Missense
SNP
0.333
2-ND
NENF-
-
-
-
3GainND
NEO1-
-
-
-
3GainND
NES-
-
-
-
3GainND
NET1-
-
-
-
1LossND
NETO2-
-
-
-
1LossND
NEURL1p.H66Y
Missense
SNP
0.689
2-ND
NEUROD4p.S295L
Missense
SNP
0.331
2-ND
NEUROD6-
-
-
-
3GainND
NEUROG2-
-
-
-
1LossND
NF2-
-
-
-
3GainND
NFASC-
-
-
-
3GainND
NFAT5-
-
-
-
1LossND
NFATC3-
-
-
-
1LossND
NFE2L3-
-
-
-
3GainND
NFE4-
-
-
-
3GainND
NFIB-
-
-
-
0DelND
NFKB1-
-
-
-
1LossND
NFX1-
-
-
-
0DelND
NGDN-
-
-
-
1LossND
NGRN-
-
-
-
3GainND
NHLH1p.R55W
Missense
DNP
0.822
3GainND
NHSL1p.S1578F
Missense
SNP
0.310
2-ND
NID1-
-
-
-
3GainND
NID2p.G872S
Missense
SNP
0.367
2-ND
NIM1K-
-
-
-
3GainND
NIP7-
-
-
-
1LossND
NIPA1-
-
-
-
3GainND
NIPA2-
-
-
-
3GainND
NIPAL3-
-
-
-
3GainND
NIPBL-
-
-
-
3GainND
NIPSNAP1-
-
-
-
3GainND
NIPSNAP2-
-
-
-
3GainND
NIT1-
-
-
-
3GainND
NKAIN1-
-
-
-
3GainND
NKD1-
-
-
-
1LossND
NKD2p.P54S
Missense
SNP
0.522
2-ND
NKX2-6p.G279E
Missense
SNP
0.265
2-ND
NKX3-2p.G233E
Missense
SNP
0.296
2-ND
NKX6-1-
-
-
-
1LossND
NKX6-2-
-
-
-
1LossND
NLGN4Xp.R669Q
Missense
SNP
0.561
NDNDND
NLRC4p.D299N
Missense
SNP
0.270
2-ND
NLRC5-
-
-
-
1LossND
NLRP1p.D639N
Missense
SNP
0.305
2-ND
NLRP11p.H117Y
Missense
SNP
0.216
2-ND
NLRP13p.E1019K
Missense
SNP
0.544
2-ND
NLRP3-
-
-
-
3GainND
NLRP4p.P243L
p.E482K
Missense
Missense
SNP
SNP
0.484
0.269
2-ND
NLRP5p.G903E
Missense
SNP
0.497
2-ND
NLRP8p.P11L
p.L389F
Missense
Missense
SNP
SNP
0.500
0.277
2-ND
NMB-
-
-
-
3GainND
NME7p.I344V
Missense
SNP
0.156
3GainND
NME8-
-
-
-
3GainND
NMNAT1-
-
-
-
3GainND
NMNAT2-
-
-
-
3GainND
NMT2-
-
-
-
1LossND
NNTp.S1044F
Missense
SNP
0.451
3GainND
NOB1-
-
-
-
1LossND
NOBOX-
-
-
-
3GainND
NOC2L-
-
-
-
3GainND
NOCT-
-
-
-
3GainND
NOD1-
-
-
-
3GainND
NOD2-
-
-
-
1LossND
NOL12-
-
-
-
3GainND
NOL3-
-
-
-
1LossND
NOL4p.E421K
Missense
SNP
0.290
2-ND
NOL6-
-
-
-
0DelND
NOL9-
-
-
-
3GainND
NOM1-
-
-
-
3GainND
NOP14-
-
-
-
3GainND
NOP2p.A719V
p.S328F
Missense
Missense
SNP
SNP
0.655
0.344
2-ND
NOS1AP-
-
-
-
3GainND
NOS2p.R740W
p.G64E
Missense
Missense
SNP
SNP
0.655
0.391
2-ND
NOS3p.D686N
p.C853G
Missense
Missense
SNP
SNP
0.213
0.200
3GainND
NOVA1p.G381E
Missense
SNP
0.294
2-ND
NOX5-
-
-
-
3GainND
NPAP1p.G89D
p.P423L
Missense
Missense
SNP
SNP
0.333
0.210
3GainND
NPC1L1-
-
-
-
3GainND
NPHP1p.D162A
Missense
SNP
0.415
2-ND
NPHP4p.P1157S
Missense
SNP
0.669
3GainND
NPHS2p.M187I
Missense
SNP
0.154
3GainND
NPIPB15-
-
-
-
1LossND
NPL-
-
-
-
3GainND
NPNT-
-
-
-
1LossND
NPPA-
-
-
-
3GainND
NPPB-
-
-
-
3GainND
NPR1-
-
-
-
3GainND
NPR2-
-
-
-
1LossND
NPSR1-
-
-
-
3GainND
NPTN-
-
-
-
3GainND
NPTX2-
-
-
-
3GainND
NPTXRp.X284_splice
Splice_Site
SNP
0.330
3GainND
NPVF-
-
-
-
3GainND
NPY-
-
-
-
3GainND
NPY1Rp.G158S
Missense
SNP
0.244
3GainND
NPY2Rp.D42N
Missense
SNP
0.577
1LossND
NPY4R-
-
-
-
1LossND
NPY4R2-
-
-
-
1LossND
NPY5R-
-
-
-
3GainND
NQO1-
-
-
-
1LossND
NR0B2-
-
-
-
3GainND
NR1I3-
-
-
-
3GainND
NR2E3-
-
-
-
1LossND
NR2F2-
-
-
-
3GainND
NR3C2-
-
-
-
3GainND
NR5A2-
-
-
-
3GainND
NRASp.E62Q
p.Q61R
Missense
Missense
SNP
SNP
0.705
0.695
2-ND
NRCAM-
-
-
-
3GainND
NRF1-
-
-
-
3GainND
NRG1p.G13D
Missense
SNP
0.679
2-ND
NRG4-
-
-
-
3GainND
NRKp.E549T
Missense
DNP
0.387
NDNDND
NRN1L-
-
-
-
1LossND
NRP1-
-
-
-
1LossND
NRXN1p.E139K
Missense
SNP
0.476
2-ND
NRXN2p.P1604S
Missense
DNP
0.621
2-ND
NSL1-
-
-
-
3GainND
NSMCE3-
-
-
-
3GainND
NSUN5-
-
-
-
3GainND
NSUN6-
-
-
-
1LossND
NT5C3A-
-
-
-
3GainND
NTPCR-
-
-
-
3GainND
NTRK1-
-
-
-
3GainND
NTRK3p.R116W
Missense
SNP
0.322
3GainND
NUAK2-
-
-
-
3GainND
NUB1-
-
-
-
3GainND
NUCKS1-
-
-
-
3GainND
NUDC-
-
-
-
3GainND
NUDCD3-
-
-
-
3GainND
NUDT1-
-
-
-
3GainND
NUDT2-
-
-
-
0DelND
NUDT21-
-
-
-
1LossND
NUDT5-
-
-
-
1LossND
NUDT6-
-
-
-
1LossND
NUDT7-
-
-
-
1LossND
NUDT9p.M295I
Missense
SNP
1.000
1LossND
NUF2-
-
-
-
3GainND
NUP133-
-
-
-
3GainND
NUP155-
-
-
-
3GainND
NUP210Lp.R1559G
Missense
SNP
0.823
3GainND
NUP54-
-
-
-
1LossND
NUP62CLp.Y166C
Missense
SNP
0.441
NDNDND
NUP88p.F69Y
Missense
SNP
0.339
2-ND
NUP93-
-
-
-
1LossND
NUPL2-
-
-
-
3GainND
NUPR2-
-
-
-
3GainND
NUTF2-
-
-
-
1LossND
NUTM1p.P77L
Missense
SNP
0.330
2-ND
NVL-
-
-
-
3GainND
NWD2p.R42W
p.W1169*
Missense
Nonsense
SNP
SNP
0.209
0.227
2-ND
NXF5p.R320Q
Missense
SNP
0.551
NDNDND
NXPH1p.S228F
Missense
SNP
0.292
3GainND
NXPH3p.G289R
Missense
SNP
0.342
2-ND
NYAP1-
-
-
-
3GainND
NYAP2p.P340S
Missense
SNP
0.299
2-ND
OAZ2-
-
-
-
3GainND
OBSCN-
-
-
-
3GainND
OCA2-
-
-
-
3GainND
OCLM-
-
-
-
3GainND
OCM-
-
-
-
3GainND
OCM2-
-
-
-
3GainND
ODAMp.G102E
Missense
SNP
0.297
2-ND
ODAPH-
-
-
-
1LossND
ODF3L1-
-
-
-
3GainND
ODR4-
-
-
-
3GainND
OGDH-
-
-
-
3GainND
OGDHL-
-
-
-
1LossND
OGFOD1-
-
-
-
1LossND
OLAH-
-
-
-
1LossND
OLFML2Bp.G27E
Missense
SNP
0.187
3GainND
ONECUT1-
-
-
-
3GainND
OPN1SW-
-
-
-
3GainND
OPN3-
-
-
-
3GainND
OPRD1-
-
-
-
3GainND
OPRK1p.A308V
Missense
SNP
0.240
2-ND
OPTC-
-
-
-
3GainND
OPTN-
-
-
-
1LossND
OR10A3p.M136I
Missense
SNP
0.638
2-ND
OR10J1-
-
-
-
3GainND
OR10J3p.S149L
Missense
SNP
0.185
3GainND
OR10J5-
-
-
-
3GainND
OR10K1-
-
-
-
3GainND
OR10K2-
-
-
-
3GainND
OR10R2-
-
-
-
3GainND
OR10T2-
-
-
-
3GainND
OR10X1-
-
-
-
3GainND
OR10Z1-
-
-
-
3GainND
OR11L1-
-
-
-
3GainND
OR13A1-
-
-
-
1LossND
OR13C3p.A335T
p.D24N
Missense
Missense
SNP
SNP
0.605
0.642
2-ND
OR13C5p.M185I
Missense
SNP
0.996
2-ND
OR13C7p.G235E
Missense
SNP
1.000
NDNDND
OR13G1-
-
-
-
3GainND
OR13J1-
-
-
-
1LossND
OR14A16p.S79F
Missense
SNP
0.360
3GainND
OR14A2p.S104F
Missense
SNP
0.198
3GainND
OR14C36p.G39E
Missense
SNP
0.190
3GainND
OR14I1-
-
-
-
3GainND
OR14J1p.S65F
Missense
SNP
0.655
2-ND
OR14K1-
-
-
-
3GainND
OR1C1-
-
-
-
3GainND
OR1E2p.R50*
Nonsense
SNP
0.331
2-ND
OR1F1p.G147R
Missense
SNP
0.594
2-ND
OR1L4p.D71N
Missense
SNP
0.695
2-ND
OR2AE1-
-
-
-
3GainND
OR2AJ1-
-
-
-
3GainND
OR2AK2-
-
-
-
3GainND
OR2B11-
-
-
-
3GainND
OR2B6p.C76*
Nonsense
DNP
0.315
2-ND
OR2C3-
-
-
-
3GainND
OR2G2-
-
-
-
3GainND
OR2G3p.L27F
Missense
SNP
0.779
3GainND
OR2G6-
-
-
-
3GainND
OR2J2p.E197K
Missense
SNP
0.653
2-ND
OR2L13p.S92F
Missense
SNP
0.176
3GainND
OR2L2-
-
-
-
3GainND
OR2L3-
-
-
-
3GainND
OR2L5-
-
-
-
3GainND
OR2L8-
-
-
-
3GainND
OR2M2-
-
-
-
3GainND
OR2M3-
-
-
-
3GainND
OR2M4-
-
-
-
3GainND
OR2M5-
-
-
-
3GainND
OR2M7-
-
-
-
3GainND
OR2S2-
-
-
-
1LossND
OR2T1-
-
-
-
3GainND
OR2T10-
-
-
-
3GainND
OR2T11-
-
-
-
3GainND
OR2T12-
-
-
-
3GainND
OR2T2-
-
-
-
3GainND
OR2T27-
-
-
-
3GainND
OR2T29-
-
-
-
3GainND
OR2T3-
-
-
-
3GainND
OR2T33-
-
-
-
3GainND
OR2T34-
-
-
-
3GainND
OR2T35-
-
-
-
3GainND
OR2T4-
-
-
-
3GainND
OR2T5-
-
-
-
3GainND
OR2T6-
-
-
-
3GainND
OR2T8-
-
-
-
3GainND
OR2V1-
-
-
-
1LossND
OR2V2-
-
-
-
1LossND
OR2W3-
-
-
-
3GainND
OR4A15p.M31I
Missense
SNP
0.662
2-ND
OR4C12p.S74F
Missense
SNP
0.442
2-ND
OR4C15p.P337L
Missense
SNP
0.665
2-ND
OR4C16p.D266N
Missense
SNP
0.278
2-ND
OR4C6p.L84F
Missense
SNP
0.323
2-ND
OR4F15-
-
-
-
3GainND
OR4F4-
-
-
-
3GainND
OR4F5-
-
-
-
3GainND
OR4F6-
-
-
-
3GainND
OR4K17p.G11D
Missense
SNP
0.367
2-ND
OR4L1p.W149*
Nonsense
SNP
0.290
2-ND
OR4M2-
-
-
-
3GainND
OR4N2p.G41E
Missense
SNP
0.390
2-ND
OR4N4-
-
-
-
3GainND
OR51A2p.P131L
Missense
SNP
1.000
2-ND
OR51B5p.P287S
Missense
SNP
0.672
2-ND
OR51F2p.R136C
Missense
SNP
0.674
2-ND
OR51T1p.L231F
Missense
SNP
0.627
2-ND
OR52J3p.G185S
Missense
SNP
0.314
2-ND
OR52N5p.M165I
Missense
SNP
1.000
2-ND
OR56A1p.L169F
Missense
SNP
0.620
2-ND
OR5B12p.L64F
Missense
SNP
0.297
2-ND
OR5B17p.E109K
Missense
SNP
0.305
2-ND
OR5H1p.L256F
Missense
SNP
0.255
2-ND
OR5H6p.S119F
Missense
SNP
0.475
2-ND
OR5J2p.S217F
Missense
SNP
0.382
2-ND
OR6C3p.G270E
Missense
SNP
0.340
2-ND
OR6F1p.S217F
Missense
SNP
0.821
3GainND
OR6K2-
-
-
-
3GainND
OR6K3-
-
-
-
3GainND
OR6K6p.C177R
Missense
SNP
0.174
3GainND
OR6N1-
-
-
-
3GainND
OR6N2-
-
-
-
3GainND
OR6P1-
-
-
-
3GainND
OR6Y1-
-
-
-
3GainND
OR7A5p.S223F
Missense
SNP
0.494
2-ND
OR8B2p.S7F
Missense
SNP
0.233
2-ND
OR8S1p.S183F
Missense
SNP
0.664
2-ND
ORAI2-
-
-
-
3GainND
ORC5-
-
-
-
3GainND
ORC6-
-
-
-
1LossND
OSBP2-
-
-
-
3GainND
OSBPL3-
-
-
-
3GainND
OSBPL9p.G7R
Missense
SNP
0.749
2-ND
OSCP1-
-
-
-
3GainND
OSER1p.P250L
Missense
SNP
0.500
2-ND
OSGIN1-
-
-
-
1LossND
OSM-
-
-
-
3GainND
OSMR-
-
-
-
3GainND
OSTC-
-
-
-
1LossND
OTOFp.G524E
Missense
SNP
0.193
2-ND
OTOGLp.R1610K
Missense
SNP
0.705
2-ND
OTOL1p.M261I
Missense
SNP
0.240
2-ND
OTUD1-
-
-
-
1LossND
OTUD3-
-
-
-
3GainND
OTUD4-
-
-
-
3GainND
OTUD7Bp.G190E
Missense
SNP
0.753
2-ND
OXCT1-
-
-
-
3GainND
OXER1p.G289N
Missense
DNP
0.567
2-ND
OXSR1p.S367L
Missense
SNP
0.480
2-ND
P2RX6-
-
-
-
3GainND
PABPC4Lp.P361L
Missense
SNP
0.476
3GainND
PABPC5p.F89S
Missense
SNP
0.556
NDNDND
PABPN1-
-
-
-
1LossND
PABPN1L-
-
-
-
1LossND
PACS2p.P550S
Missense
SNP
0.347
2-ND
PADI1-
-
-
-
3GainND
PADI2-
-
-
-
3GainND
PADI3-
-
-
-
3GainND
PADI4-
-
-
-
3GainND
PADI6p.E560K
Missense
SNP
0.311
3GainND
PAFAH2-
-
-
-
3GainND
PAIP1-
-
-
-
3GainND
PAK1p.D332N
Missense
SNP
0.289
2-ND
PALLD-
-
-
-
3GainND
PANK4-
-
-
-
3GainND
PANX3p.G22R
Missense
SNP
0.309
2-ND
PAOX-
-
-
-
1LossND
PAPOLAp.K689R
Missense
SNP
0.217
2-ND
PAPOLB-
-
-
-
3GainND
PAPPA2p.H1546Y
Missense
SNP
0.168
3GainND
PAPSS1-
-
-
-
1LossND
PAQR3-
-
-
-
1LossND
PAQR5-
-
-
-
3GainND
PAQR6-
-
-
-
3GainND
PAQR7-
-
-
-
3GainND
PAQR9p.Q338*
Nonsense
SNP
0.474
2-ND
PARD3-
-
-
-
1LossND
PARD6A-
-
-
-
1LossND
PARG-
-
-
-
1LossND
PARK7-
-
-
-
3GainND
PARP1-
-
-
-
3GainND
PARP12p.P153L
Missense
DNP
0.228
NDNDND
PARP16-
-
-
-
3GainND
PARP6-
-
-
-
3GainND
PARP8-
-
-
-
3GainND
PASKp.L675V
Missense
SNP
0.259
2-ND
PATZ1-
-
-
-
3GainND
PAX4-
-
-
-
3GainND
PAX5-
-
-
-
1LossND
PAX7-
-
-
-
3GainND
PAX8p.P321L
Missense
SNP
0.453
2-ND
PAXIP1-
-
-
-
3GainND
PBX1p.S278F
Missense
SNP
0.207
3GainND
PBXIP1-
-
-
-
3GainND
PCDH1p.S290F
Missense
SNP
0.641
2-ND
PCDH10-
-
-
-
3GainND
PCDH15p.S1902L
Missense
SNP
1.000
1LossND
PCDH17p.E1137K
Missense
SNP
0.604
2-ND
PCDH18-
-
-
-
3GainND
PCDH19p.S809C
Missense
SNP
1.000
NDNDND
PCDHA11p.D344N
Missense
SNP
0.293
2-ND
PCDHA2p.E301K
Missense
SNP
0.323
2-ND
PCDHA4p.R428Q
Missense
SNP
0.680
2-ND
PCDHA8p.D378N
Missense
SNP
0.343
2-ND
PCDHA9p.S619N
p.E902K
Missense
Missense
SNP
SNP
0.338
0.242
2-ND
PCDHB11p.R407K
Missense
SNP
0.291
2-ND
PCDHB13p.G526E
Missense
SNP
0.421
2-ND
PCDHB15p.D342N
Missense
SNP
0.325
2-ND
PCDHB16p.G224E
Missense
SNP
0.648
2-ND
PCDHB3p.D51N
p.H283Y
Missense
Missense
SNP
SNP
0.348
0.632
2-ND
PCDHB5p.E144K
Missense
SNP
0.249
2-ND
PCDHB9p.S130L
Missense
SNP
0.272
2-ND
PCDHGA8p.Q647*
Nonsense
SNP
0.384
2-ND
PCDHGB1p.E307K
Missense
SNP
0.709
2-ND
PCDHGB4p.S137F
Missense
SNP
0.625
2-ND
PCLAF-
-
-
-
3GainND
PCLOp.K2611R
p.K1289N
p.A967V
Missense
Missense
Missense
SNP
SNP
SNP
0.640
0.306
0.318
4GainND
PCNX1p.R2139W
Missense
DNP
0.338
2-ND
PCNX2p.K1685E
p.A1428V
Missense
Missense
SNP
SNP
0.816
0.314
3GainND
PCOLCE-
-
-
-
3GainND
PCP2p.E9K
Missense
SNP
0.481
2-ND
PCP4L1-
-
-
-
3GainND
PCSK6-
-
-
-
3GainND
PCSK9p.E211K
Missense
SNP
0.206
2-ND
PCYT1Ap.R326H
Missense
SNP
0.412
2-ND
PDAP1-
-
-
-
3GainND
PDC-
-
-
-
3GainND
PDCD1LG2-
-
-
-
0DelND
PDCD7-
-
-
-
3GainND
PDE1Cp.E594K
Missense
SNP
0.188
3GainND
PDE3Ap.D1017N
Missense
SNP
0.290
2-ND
PDE4D-
-
-
-
3GainND
PDE5A-
-
-
-
1LossND
PDE7Bp.R86C
Missense
SNP
0.280
2-ND
PDE8A-
-
-
-
3GainND
PDF-
-
-
-
1LossND
PDGFA-
-
-
-
3GainND
PDGFBp.M93I
Missense
SNP
0.312
3GainND
PDGFC-
-
-
-
3GainND
PDHA2-
-
-
-
1LossND
PDIA4-
-
-
-
3GainND
PDIK1L-
-
-
-
3GainND
PDK4-
-
-
-
3GainND
PDLIM3-
-
-
-
3GainND
PDLIM5-
-
-
-
1LossND
PDP2-
-
-
-
1LossND
PDPN-
-
-
-
3GainND
PDPR-
-
-
-
1LossND
PDSS1-
-
-
-
1LossND
PDXP-
-
-
-
3GainND
PDZD2p.D79N
p.P913L
Missense
Missense
SNP
SNP
0.513
0.435
3GainND
PEA15-
-
-
-
3GainND
PEAK1-
-
-
-
3GainND
PEAR1-
-
-
-
3GainND
PEG10-
-
-
-
4GainND
PEG3p.R963C
Missense
SNP
0.267
2-ND
PELI3p.P170F
Missense
DNP
0.279
2-ND
PELO-
-
-
-
3GainND
PELP1p.A678V
Missense
SNP
0.283
2-ND
PENKp.E162K
Missense
SNP
0.224
2-ND
PER3p.D1208N
Missense
SNP
0.700
3GainND
PERM1-
-
-
-
3GainND
PES1-
-
-
-
3GainND
PEX1-
-
-
-
4GainND
PEX10-
-
-
-
3GainND
PEX11A-
-
-
-
3GainND
PEX14-
-
-
-
3GainND
PEX19-
-
-
-
3GainND
PEX26-
-
-
-
3GainND
PEX5Lp.D281N
Missense
SNP
0.239
2-ND
PFDN2-
-
-
-
3GainND
PFKFB2-
-
-
-
3GainND
PFKFB3-
-
-
-
1LossND
PFKP-
-
-
-
1LossND
PGAM2-
-
-
-
3GainND
PGBD2-
-
-
-
3GainND
PGBD5-
-
-
-
3GainND
PGD-
-
-
-
3GainND
PGLYRP3-
-
-
-
3GainND
PGLYRP4-
-
-
-
3GainND
PGPEP1L-
-
-
-
3GainND
PGRMC2-
-
-
-
3GainND
PHACTR4-
-
-
-
3GainND
PHC2-
-
-
-
3GainND
PHF13-
-
-
-
3GainND
PHF14-
-
-
-
3GainND
PHF21Bp.Q297*
Nonsense
SNP
0.193
2-ND
PHF24-
-
-
-
1LossND
PHIPp.P808L
p.L590S
Missense
Missense
DNP
SNP
0.670
0.683
2-ND
PHKB-
-
-
-
1LossND
PHKG1-
-
-
-
3GainND
PHLDA3-
-
-
-
3GainND
PHLPP2-
-
-
-
1LossND
PHTF2-
-
-
-
4GainND
PHYH-
-
-
-
1LossND
PHYHIPL-
-
-
-
1LossND
PI4KA-
-
-
-
3GainND
PIAS1-
-
-
-
3GainND
PICK1-
-
-
-
3GainND
PIEZO1-
-
-
-
1LossND
PIF1-
-
-
-
3GainND
PIGB-
-
-
-
3GainND
PIGC-
-
-
-
3GainND
PIGLp.C177G
Missense
SNP
0.279
2-ND
PIGM-
-
-
-
3GainND
PIGO-
-
-
-
1LossND
PIGR-
-
-
-
3GainND
PIGV-
-
-
-
3GainND
PIGY-
-
-
-
1LossND
PIK3C2Ap.P748S
Missense
SNP
0.297
2-ND
PIK3C2B-
-
-
-
3GainND
PIK3C2Gp.R378*
Nonsense
SNP
0.629
2-ND
PIK3CD-
-
-
-
3GainND
PIK3CG-
-
-
-
3GainND
PIK3IP1-
-
-
-
3GainND
PILRA-
-
-
-
3GainND
PILRB-
-
-
-
3GainND
PINK1-
-
-
-
3GainND
PINLYPp.S106F
Missense
SNP
0.221
2-ND
PIP4K2A-
-
-
-
1LossND
PISD-
-
-
-
3GainND
PITHD1-
-
-
-
3GainND
PITPNB-
-
-
-
3GainND
PITRM1-
-
-
-
1LossND
PITX2-
-
-
-
1LossND
PIWIL3-
-
-
-
3GainND
PKD1L1-
-
-
-
3GainND
PKD1L2-
-
-
-
1LossND
PKD1L3-
-
-
-
1LossND
PKD2-
-
-
-
1LossND
PKDREJp.S1334F
Missense
SNP
0.211
3GainND
PKHD1L1p.Q763*
p.S2910L
p.V3182I
Nonsense
Missense
Missense
SNP
SNP
SNP
0.519
0.289
0.424
2-ND
PKLR-
-
-
-
3GainND
PKM-
-
-
-
3GainND
PKP1-
-
-
-
3GainND
PKP3p.R253Q
Missense
SNP
0.364
2-ND
PLA2G12A-
-
-
-
1LossND
PLA2G15-
-
-
-
1LossND
PLA2G2A-
-
-
-
3GainND
PLA2G2C-
-
-
-
3GainND
PLA2G2D-
-
-
-
3GainND
PLA2G2E-
-
-
-
3GainND
PLA2G2F-
-
-
-
3GainND
PLA2G3-
-
-
-
3GainND
PLA2G4A-
-
-
-
3GainND
PLA2G5-
-
-
-
3GainND
PLA2G6-
-
-
-
3GainND
PLAA-
-
-
-
0DelND
PLAC8-
-
-
-
1LossND
PLBD2p.P203S
Missense
SNP
0.372
2-ND
PLCB1p.E1130K
Missense
SNP
0.460
2-ND
PLCB4p.G876E
Missense
SNP
0.412
2-ND
PLCG2-
-
-
-
1LossND
PLCH2-
-
-
-
3GainND
PLCXD3-
-
-
-
3GainND
PLCZ1p.E538K
p.G302E
p.S167L
p.S81F
p.G17E
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.420
0.673
0.403
0.603
0.339
2-ND
PLD5-
-
-
-
3GainND
PLEKHA6-
-
-
-
3GainND
PLEKHA8-
-
-
-
3GainND
PLEKHD1p.W139*
p.L250H
Nonsense
Missense
SNP
SNP
0.340
0.283
2-ND
PLEKHG2p.P447L
Missense
SNP
0.299
2-ND
PLEKHG4-
-
-
-
1LossND
PLEKHG5-
-
-
-
3GainND
PLEKHG7p.E29K
Missense
SNP
0.315
2-ND
PLEKHH2p.R16Q
Missense
SNP
0.261
2-ND
PLEKHM2-
-
-
-
3GainND
PLEKHN1-
-
-
-
3GainND
PLEKHO2-
-
-
-
3GainND
PLGp.S632F
Missense
SNP
0.650
2-ND
PLGRKT-
-
-
-
0DelND
PLIN1-
-
-
-
3GainND
PLIN2-
-
-
-
0DelND
PLK2-
-
-
-
3GainND
PLK4-
-
-
-
3GainND
PLLP-
-
-
-
1LossND
PLOD1-
-
-
-
3GainND
PLOD3-
-
-
-
3GainND
PLPP1-
-
-
-
3GainND
PLPP6-
-
-
-
0DelND
PLRG1-
-
-
-
1LossND
PLXDC2-
-
-
-
1LossND
PLXNA2-
-
-
-
3GainND
PLXNA4-
-
-
-
3GainND
PLXNB3p.E1321K
Missense
SNP
1.000
NDNDND
PM20D1-
-
-
-
3GainND
PMF1-
-
-
-
3GainND
PMF1-BGLAP-
-
-
-
3GainND
PMFBP1-
-
-
-
1LossND
PMLp.V657M
Missense
DNP
0.528
3GainND
PMPCB-
-
-
-
3GainND
PMS2-
-
-
-
3GainND
PMVK-
-
-
-
3GainND
PNLIPp.P225H
Missense
SNP
0.371
2-ND
PNMAL2p.E81K
Missense
SNP
0.242
NDNDND
PNPLA2p.P497L
Missense
SNP
0.590
2-ND
PNPLA8-
-
-
-
3GainND
PNRC2-
-
-
-
3GainND
PODXL-
-
-
-
3GainND
POFUT1p.S357F
Missense
SNP
0.238
2-ND
POGK-
-
-
-
3GainND
POLD2-
-
-
-
3GainND
POLG-
-
-
-
3GainND
POLM-
-
-
-
3GainND
POLNp.S771F
p.P279L
Missense
Missense
DNP
SNP
0.570
0.503
2-ND
POLR1Ep.R272C
Missense
DNP
1.000
1LossND
POLR2Ap.G424S
Missense
SNP
0.338
2-ND
POLR2C-
-
-
-
1LossND
POLR2F-
-
-
-
3GainND
POLR2J-
-
-
-
3GainND
POLR2J2-
-
-
-
3GainND
POLR2J3-
-
-
-
3GainND
POLR2Kp.R51K
Missense
SNP
0.368
2-ND
POLR2M-
-
-
-
3GainND
POLR3Ep.S93F
Missense
SNP
0.289
2-ND
POM121-
-
-
-
3GainND
POM121C-
-
-
-
3GainND
POM121L12-
-
-
-
3GainND
POM121L2p.G682R
Missense
SNP
0.269
2-ND
POMZP3-
-
-
-
4GainND
PON1-
-
-
-
3GainND
PON2-
-
-
-
3GainND
PON3-
-
-
-
3GainND
POP7-
-
-
-
3GainND
POR-
-
-
-
3GainND
POT1-
-
-
-
3GainND
POTEB-
-
-
-
3GainND
POTEB2-
-
-
-
3GainND
POU2F1-
-
-
-
3GainND
POU4F2-
-
-
-
3GainND
POU6F2-
-
-
-
3GainND
PPA2-
-
-
-
1LossND
PPARA-
-
-
-
3GainND
PPCDC-
-
-
-
3GainND
PPEF2-
-
-
-
1LossND
PPFIA4-
-
-
-
3GainND
PPIA-
-
-
-
3GainND
PPIB-
-
-
-
3GainND
PPICp.E68K
Missense
SNP
0.657
2-ND
PPID-
-
-
-
3GainND
PPIL2-
-
-
-
3GainND
PPM1F-
-
-
-
3GainND
PPM1K-
-
-
-
1LossND
PPOX-
-
-
-
3GainND
PPP1R12B-
-
-
-
3GainND
PPP1R13Lp.P371L
Missense
SNP
0.319
2-ND
PPP1R15B-
-
-
-
3GainND
PPP1R17-
-
-
-
3GainND
PPP1R35-
-
-
-
3GainND
PPP1R3A-
-
-
-
3GainND
PPP1R3E-
-
-
-
1LossND
PPP1R8-
-
-
-
3GainND
PPP1R9A-
-
-
-
3GainND
PPP2R5A-
-
-
-
3GainND
PPP3CA-
-
-
-
1LossND
PQLC2-
-
-
-
3GainND
PRAMEp.P171L
Missense
SNP
0.218
3GainND
PRAMEF1-
-
-
-
3GainND
PRAMEF12-
-
-
-
3GainND
PRAMEF14p.E250K
Missense
SNP
0.363
NDNDND
PRAMEF18-
-
-
-
3GainND
PRAMEF19-
-
-
-
3GainND
PRAMEF2-
-
-
-
3GainND
PRAMEF20-
-
-
-
3GainND
PRAP1-
-
-
-
1LossND
PRC1-
-
-
-
3GainND
PRCC-
-
-
-
3GainND
PRDM14p.R430K
Missense
SNP
0.268
2-ND
PRDM16-
-
-
-
3GainND
PRDM2-
-
-
-
3GainND
PRDM5-
-
-
-
1LossND
PRDM6p.S524F
Missense
SNP
0.664
2-ND
PRDM7-
-
-
-
1LossND
PRDM8-
-
-
-
1LossND
PRDM9-
-
-
-
3GainND
PRDX6-
-
-
-
3GainND
PRELPp.E76K
Missense
SNP
0.188
3GainND
PREX2p.D1049N
Missense
SNP
0.453
2-ND
PRG4-
-
-
-
3GainND
PRIMPOL-
-
-
-
3GainND
PRKAA1-
-
-
-
3GainND
PRKAG2-
-
-
-
3GainND
PRKAR1B-
-
-
-
3GainND
PRKAR2B-
-
-
-
3GainND
PRKCBp.D484N
Missense
SNP
0.182
2-ND
PRKCGp.G358R
Missense
SNP
0.209
2-ND
PRKCQ-
-
-
-
1LossND
PRKCZ-
-
-
-
3GainND
PRKG1-
-
-
-
1LossND
PRKG2-
-
-
-
1LossND
PRKRIP1-
-
-
-
3GainND
PRMT7-
-
-
-
1LossND
PRMT9-
-
-
-
3GainND
PRODH-
-
-
-
3GainND
PROSER2-
-
-
-
1LossND
PROX1-
-
-
-
3GainND
PRPF18-
-
-
-
1LossND
PRPF6p.L930F
Missense
SNP
0.424
2-ND
PRPS1L1-
-
-
-
3GainND
PRR14L-
-
-
-
3GainND
PRR15-
-
-
-
3GainND
PRR23Ap.E81K
Missense
SNP
0.237
2-ND
PRR26-
-
-
-
1LossND
PRR30p.P189F
Missense
DNP
0.465
2-ND
PRR7p.P225L
Missense
SNP
0.591
2-ND
PRR9-
-
-
-
3GainND
PRRC2C-
-
-
-
3GainND
PRRT4-
-
-
-
3GainND
PRRX1-
-
-
-
3GainND
PRSS12-
-
-
-
1LossND
PRSS3-
-
-
-
0DelND
PRSS38-
-
-
-
3GainND
PRSS48-
-
-
-
1LossND
PRSS54-
-
-
-
1LossND
PRSS58p.I208V
Missense
SNP
0.675
NDNDND
PRTFDC1-
-
-
-
1LossND
PRTG-
-
-
-
3GainND
PRUNE2p.G605E
Missense
SNP
1.000
2-ND
PRXL2B-
-
-
-
3GainND
PSD4p.S99F
Missense
SNP
0.537
2-ND
PSEN2-
-
-
-
3GainND
PSG1-
-
-
-
1LossND
PSG11-
-
-
-
1LossND
PSG2-
-
-
-
1LossND
PSG4-
-
-
-
1LossND
PSG5-
-
-
-
1LossND
PSG6-
-
-
-
1LossND
PSG7-
-
-
-
1LossND
PSG8p.S340L
p.G317D
Missense
Missense
SNP
SNP
0.588
0.242
1LossND
PSG9p.L52F
Missense
SNP
0.496
1LossND
PSIP1-
-
-
-
0DelND
PSKH1-
-
-
-
1LossND
PSMA2-
-
-
-
3GainND
PSMA4-
-
-
-
3GainND
PSMB10-
-
-
-
1LossND
PSMB2-
-
-
-
3GainND
PSMB8p.R216W
Missense
SNP
0.739
2-ND
PSMC2p.R144I
Missense
SNP
0.328
3GainND
PSMD7-
-
-
-
1LossND
PSME4p.R625C
Missense
SNP
0.472
2-ND
PSMG3-
-
-
-
3GainND
PSPH-
-
-
-
3GainND
PSTPIP1-
-
-
-
3GainND
PTAFR-
-
-
-
3GainND
PTCD1-
-
-
-
3GainND
PTCHD3-
-
-
-
1LossND
PTER-
-
-
-
1LossND
PTF1A-
-
-
-
1LossND
PTGDRp.R310Q
Missense
SNP
0.330
2-ND
PTGER4-
-
-
-
3GainND
PTGS2-
-
-
-
3GainND
PTP4A2-
-
-
-
3GainND
PTPN12p.S649F
Missense
SNP
0.681
4GainND
PTPN13p.S1754L
Missense
SNP
0.475
1LossND
PTPN14p.V342I
Missense
SNP
0.144
3GainND
PTPN20-
-
-
-
1LossND
PTPN7-
-
-
-
3GainND
PTPN9-
-
-
-
3GainND
PTPRBp.E1444K
Missense
SNP
0.297
2-ND
PTPRC-
-
-
-
3GainND
PTPRDp.P846S
Missense
SNP
1.000
0DelND
PTPRGp.A283V
Missense
SNP
0.259
2-ND
PTPRJp.L947R
Missense
SNP
0.300
2-ND
PTPRNp.D701N
Missense
SNP
0.523
2-ND
PTPRN2-
-
-
-
3GainND
PTPROp.P873L
Missense
SNP
0.665
2-ND
PTPRTp.S1368F
p.P489S
p.W306*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.262
0.239
0.439
2-ND
PTPRU-
-
-
-
3GainND
PTPRZ1-
-
-
-
3GainND
PUM1-
-
-
-
3GainND
PUM3-
-
-
-
0DelND
PURB-
-
-
-
3GainND
PUS7-
-
-
-
3GainND
PUSL1-
-
-
-
3GainND
PVALB-
-
-
-
3GainND
PVRIG-
-
-
-
3GainND
PWWP2B-
-
-
-
1LossND
PXDNLp.E685K
p.G248E
Missense
Missense
SNP
SNP
0.472
0.280
2-ND
PYCR2-
-
-
-
3GainND
PYGBp.L145F
Missense
SNP
0.421
2-ND
PYGO1-
-
-
-
3GainND
PYGO2-
-
-
-
3GainND
PYHIN1-
-
-
-
3GainND
PYURF-
-
-
-
1LossND
QRFPR-
-
-
-
1LossND
QSOX1-
-
-
-
3GainND
R3HCC1p.A419V
Missense
SNP
0.338
2-ND
RAB11A-
-
-
-
3GainND
RAB13-
-
-
-
3GainND
RAB18-
-
-
-
1LossND
RAB25-
-
-
-
3GainND
RAB27A-
-
-
-
3GainND
RAB29-
-
-
-
3GainND
RAB33B-
-
-
-
3GainND
RAB36-
-
-
-
3GainND
RAB3C-
-
-
-
3GainND
RAB3GAP2-
-
-
-
3GainND
RAB42-
-
-
-
3GainND
RAB4A-
-
-
-
3GainND
RAB6Ap.R84C
Missense
SNP
0.254
2-ND
RAB8B-
-
-
-
3GainND
RABGAP1L-
-
-
-
4GainND
RABGEF1-
-
-
-
3GainND
RABIF-
-
-
-
3GainND
RAC1-
-
-
-
3GainND
RAC2p.L67F
Missense
SNP
0.137
3GainND
RACK1-
-
-
-
1LossND
RADIL-
-
-
-
3GainND
RALA-
-
-
-
3GainND
RALGPS2-
-
-
-
3GainND
RALYp.X220_splice
Splice_Site
SNP
0.549
2-ND
RAMAC-
-
-
-
3GainND
RAMP3-
-
-
-
3GainND
RANBP1-
-
-
-
3GainND
RANBP10-
-
-
-
1LossND
RANBP3L-
-
-
-
3GainND
RANBP6-
-
-
-
0DelND
RAP1GAP-
-
-
-
3GainND
RAP1GAP2p.G233R
Missense
SNP
0.257
2-ND
RAP1GDS1-
-
-
-
1LossND
RAPGEF2p.P1273S
Missense
SNP
0.259
3GainND
RAPGEF3p.D19N
Missense
SNP
0.197
2-ND
RAPGEF5-
-
-
-
3GainND
RARRES2-
-
-
-
3GainND
RASA4-
-
-
-
3GainND
RASA4B-
-
-
-
3GainND
RASAL2-
-
-
-
3GainND
RASD2-
-
-
-
3GainND
RASGEF1A-
-
-
-
1LossND
RASGEF1B-
-
-
-
1LossND
RASGRF1-
-
-
-
3GainND
RASGRF2p.D551N
Missense
SNP
0.178
2-ND
RASL10A-
-
-
-
3GainND
RASL12-
-
-
-
3GainND
RASSF4-
-
-
-
1LossND
RASSF5p.G415D
Missense
SNP
0.312
3GainND
RASSF6p.Y64*
Nonsense
SNP
0.429
2-ND
RBAK-
-
-
-
3GainND
RBAK-RBAKDN-
-
-
-
3GainND
RBBP4-
-
-
-
3GainND
RBBP5-
-
-
-
3GainND
RBBP8NLp.G180R
Missense
SNP
0.284
2-ND
RBFOX1p.S209N
Missense
SNP
0.586
2-ND
RBFOX2-
-
-
-
3GainND
RBL2-
-
-
-
1LossND
RBM17-
-
-
-
1LossND
RBM20p.E1020K
Missense
SNP
0.676
2-ND
RBM26p.P227S
Missense
SNP
0.330
2-ND
RBM28-
-
-
-
3GainND
RBM33-
-
-
-
3GainND
RBM34-
-
-
-
3GainND
RBM46-
-
-
-
1LossND
RBM48-
-
-
-
4GainND
RBMXL3p.G308R
Missense
SNP
1.000
NDNDND
RBP1p.D2N
Missense
SNP
0.232
2-ND
RBP3-
-
-
-
1LossND
RBP7-
-
-
-
3GainND
RBPJLp.P468S
Missense
SNP
0.229
2-ND
RBPMS2-
-
-
-
3GainND
RBX1-
-
-
-
3GainND
RC3H1-
-
-
-
3GainND
RC3H2p.P838L
Missense
SNP
0.641
2-ND
RCAN3-
-
-
-
3GainND
RCBTB2p.N478S
Missense
SNP
0.360
2-ND
RCC1-
-
-
-
3GainND
RCC1L-
-
-
-
3GainND
RCC2-
-
-
-
3GainND
RCCD1-
-
-
-
3GainND
RCHY1-
-
-
-
1LossND
RCL1-
-
-
-
0DelND
RCN2-
-
-
-
3GainND
RCOR3-
-
-
-
3GainND
RCSD1-
-
-
-
3GainND
RD3-
-
-
-
3GainND
RDH5p.E219D
Missense
SNP
0.300
2-ND
REC114-
-
-
-
3GainND
RECK-
-
-
-
1LossND
REELD1-
-
-
-
3GainND
RELNp.E3142K
p.E2973K
Missense
Missense
SNP
SNP
0.599
0.752
3GainND
REM1p.R203P
Missense
SNP
0.505
2-ND
REN-
-
-
-
3GainND
REPIN1-
-
-
-
3GainND
RER1-
-
-
-
3GainND
REREp.S1366F
Missense
SNP
0.285
3GainND
RET-
-
-
-
1LossND
RFC2-
-
-
-
4GainND
RFPL1-
-
-
-
3GainND
RFPL2p.S326F
Missense
SNP
0.776
3GainND
RFPL3p.G16E
Missense
SNP
0.442
3GainND
RFT1p.E486G
Missense
SNP
0.500
2-ND
RFWD3-
-
-
-
1LossND
RFX3-
-
-
-
0DelND
RFX7-
-
-
-
3GainND
RFXANKp.P44S
Missense
SNP
0.304
2-ND
RGAG1p.R503K
Missense
SNP
0.995
NDNDND
RGL1-
-
-
-
3GainND
RGL4-
-
-
-
3GainND
RGMA-
-
-
-
3GainND
RGP1-
-
-
-
1LossND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS1-
-
-
-
3GainND
RGS12-
-
-
-
3GainND
RGS13-
-
-
-
3GainND
RGS16-
-
-
-
3GainND
RGS18-
-
-
-
3GainND
RGS2-
-
-
-
3GainND
RGS21-
-
-
-
3GainND
RGS4-
-
-
-
3GainND
RGS5-
-
-
-
3GainND
RGS6p.R47K
Missense
SNP
0.378
2-ND
RGS7-
-
-
-
3GainND
RGS8-
-
-
-
3GainND
RGSL1-
-
-
-
3GainND
RHAGp.E161K
Missense
SNP
0.292
2-ND
RHBDD2p.S32Y
Missense
SNP
0.208
3GainND
RHBDD3-
-
-
-
3GainND
RHBG-
-
-
-
3GainND
RHCE-
-
-
-
3GainND
RHCG-
-
-
-
3GainND
RHD-
-
-
-
3GainND
RHEB-
-
-
-
3GainND
RHEX-
-
-
-
3GainND
RHOp.G121S
Missense
SNP
0.479
2-ND
RHODp.W111*
Nonsense
SNP
0.306
2-ND
RHOU-
-
-
-
3GainND
RIBC2-
-
-
-
3GainND
RIC1-
-
-
-
0DelND
RICTOR-
-
-
-
3GainND
RILPL2p.R206*
Nonsense
SNP
0.289
2-ND
RIMS2p.L584I
Missense
SNP
0.267
2-ND
RINT1-
-
-
-
3GainND
RIPOR1-
-
-
-
1LossND
RIT1-
-
-
-
3GainND
RLBP1-
-
-
-
3GainND
RLN1-
-
-
-
0DelND
RLN2-
-
-
-
0DelND
RNASEH1p.V79D
Missense
SNP
0.557
2-ND
RNASEL-
-
-
-
3GainND
RNF103p.F420L
Missense
SNP
0.520
2-ND
RNF111-
-
-
-
3GainND
RNF133-
-
-
-
3GainND
RNF148-
-
-
-
3GainND
RNF150-
-
-
-
3GainND
RNF166-
-
-
-
1LossND
RNF17p.A226T
Missense
SNP
0.449
2-ND
RNF175-
-
-
-
1LossND
RNF185-
-
-
-
3GainND
RNF186-
-
-
-
3GainND
RNF187-
-
-
-
3GainND
RNF19B-
-
-
-
3GainND
RNF2-
-
-
-
3GainND
RNF207-
-
-
-
3GainND
RNF212B-
-
-
-
1LossND
RNF215-
-
-
-
3GainND
RNF216-
-
-
-
3GainND
RNF223-
-
-
-
3GainND
RNF32-
-
-
-
3GainND
RNF38p.P340L
Missense
SNP
1.000
1LossND
RNGTTp.R330C
Missense
SNP
0.365
2-ND
RNPEP-
-
-
-
3GainND
ROBO2p.R1151*
Nonsense
SNP
0.266
2-ND
RORA-
-
-
-
3GainND
ROS1p.G1392R
Missense
SNP
0.660
2-ND
RP11-385D13.1p.Q470*
Nonsense
SNP
0.705
NDNDND
RP5-862P8.2p.E1031K
Missense
SNP
0.479
NDNDND
RP9-
-
-
-
3GainND
RPA2-
-
-
-
3GainND
RPA3-
-
-
-
3GainND
RPGRIP1L-
-
-
-
1LossND
RPL11-
-
-
-
3GainND
RPL13-
-
-
-
1LossND
RPL22-
-
-
-
3GainND
RPL3-
-
-
-
3GainND
RPL34-
-
-
-
1LossND
RPL37-
-
-
-
3GainND
RPL4-
-
-
-
3GainND
RPLP1-
-
-
-
3GainND
RPP25-
-
-
-
3GainND
RPP25L-
-
-
-
0DelND
RPP38-
-
-
-
1LossND
RPS17-
-
-
-
3GainND
RPS19BP1-
-
-
-
3GainND
RPS27-
-
-
-
3GainND
RPS27L-
-
-
-
3GainND
RPS3A-
-
-
-
1LossND
RPS6-
-
-
-
0DelND
RPS6KA1-
-
-
-
3GainND
RPS6KC1-
-
-
-
3GainND
RPTORp.L10F
Missense
SNP
0.327
2-ND
RRAD-
-
-
-
1LossND
RRAGA-
-
-
-
0DelND
RRH-
-
-
-
1LossND
RRNAD1-
-
-
-
3GainND
RRP15-
-
-
-
3GainND
RSBN1L-
-
-
-
4GainND
RSC1A1-
-
-
-
3GainND
RSL24D1-
-
-
-
3GainND
RSPH10B-
-
-
-
3GainND
RSPH10B2-
-
-
-
3GainND
RSPH14-
-
-
-
3GainND
RSPO1-
-
-
-
3GainND
RSPRY1-
-
-
-
1LossND
RSRP1-
-
-
-
3GainND
RSU1-
-
-
-
1LossND
RTCB-
-
-
-
3GainND
RTEL1p.R1223I
Missense
SNP
0.266
2-ND
RTL10-
-
-
-
3GainND
RTN4R-
-
-
-
3GainND
RUNDC3B-
-
-
-
3GainND
RUNX1T1p.S596L
p.R88Q
Missense
Missense
SNP
SNP
0.489
0.250
2-ND
RUNX2p.E226K
Missense
SNP
0.643
2-ND
RUNX3-
-
-
-
3GainND
RUSC1-
-
-
-
3GainND
RUSC2p.S463F
Missense
SNP
0.510
1LossND
RWDD4-
-
-
-
3GainND
RXFP1-
-
-
-
3GainND
RXFP2p.G95E
Missense
SNP
0.393
2-ND
RXFP4-
-
-
-
3GainND
RXRG-
-
-
-
3GainND
RYR2p.D458N
p.E3002K
Missense
Missense
SNP
SNP
0.187
0.304
3GainND
S100A1-
-
-
-
3GainND
S100A11p.S16V
Missense
DNP
0.209
2-ND
S100A12-
-
-
-
3GainND
S100A13-
-
-
-
3GainND
S100A14-
-
-
-
3GainND
S100A16-
-
-
-
3GainND
S100A2-
-
-
-
3GainND
S100A3-
-
-
-
3GainND
S100A4-
-
-
-
3GainND
S100A5-
-
-
-
3GainND
S100A6-
-
-
-
3GainND
S100A7-
-
-
-
3GainND
S100A7A-
-
-
-
3GainND
S100A7L2-
-
-
-
3GainND
S100A8-
-
-
-
3GainND
S100A9-
-
-
-
3GainND
S100PBP-
-
-
-
3GainND
SACSp.S3289L
Missense
SNP
0.385
2-ND
SAFB2p.R755C
Missense
SNP
0.476
2-ND
SALL1-
-
-
-
1LossND
SALL3p.P95L
p.G651E
p.S1117L
Missense
Missense
Missense
SNP
DNP
SNP
0.679
0.288
0.315
2-ND
SAMD11-
-
-
-
3GainND
SAMD12p.P12L
Missense
SNP
0.510
2-ND
SAMD4Ap.P631L
Missense
SNP
0.344
2-ND
SAMD9-
-
-
-
4GainND
SAMD9L-
-
-
-
4GainND
SAP130p.P95L
Missense
SNP
0.210
2-ND
SAP25-
-
-
-
3GainND
SAP30-
-
-
-
3GainND
SASH1p.S90F
Missense
SNP
0.273
2-ND
SATL1p.I261V
Missense
SNP
1.000
NDNDND
SAXO1-
-
-
-
0DelND
SAXO2-
-
-
-
3GainND
SBDS-
-
-
-
3GainND
SBSNp.E508K
Missense
SNP
0.234
2-ND
SBSPONp.E79K
Missense
SNP
0.529
2-ND
SCAMP2-
-
-
-
3GainND
SCAMP3-
-
-
-
3GainND
SCAMP5-
-
-
-
3GainND
SCAPER-
-
-
-
3GainND
SCARB2-
-
-
-
1LossND
SCARF2-
-
-
-
3GainND
SCART1-
-
-
-
1LossND
SCCPDH-
-
-
-
3GainND
SCD5-
-
-
-
1LossND
SCFD1p.P587L
Missense
SNP
0.273
2-ND
SCG3p.E192A
Missense
SNP
0.353
2-ND
SCIN-
-
-
-
3GainND
SCLT1-
-
-
-
3GainND
SCN10Ap.E859K
Missense
SNP
0.246
2-ND
SCN11Ap.E418K
Missense
SNP
0.261
2-ND
SCN2Ap.G882E
Missense
SNP
0.454
2-ND
SCN2Bp.T15M
Missense
SNP
0.612
2-ND
SCN4Ap.D511N
Missense
DNP
0.637
2-ND
SCN5Ap.D498N
Missense
SNP
0.502
2-ND
SCNN1Bp.R200K
Missense
SNP
0.567
2-ND
SCNN1D-
-
-
-
3GainND
SCOC-
-
-
-
3GainND
SCRG1-
-
-
-
3GainND
SCRIBp.G907S
p.A516V
Missense
Missense
SNP
SNP
0.545
0.438
2-ND
SCRN1-
-
-
-
3GainND
SCX-
-
-
-
1LossND
SCYL3-
-
-
-
3GainND
SDAD1-
-
-
-
1LossND
SDC3-
-
-
-
3GainND
SDCCAG8-
-
-
-
3GainND
SDE2-
-
-
-
3GainND
SDF2L1-
-
-
-
3GainND
SDF4-
-
-
-
3GainND
SDHAF3-
-
-
-
3GainND
SDHB-
-
-
-
3GainND
SDHC-
-
-
-
3GainND
SDK1p.M194I
p.G957E
p.R1615K
Missense
Missense
Missense
SNP
SNP
SNP
0.332
0.470
0.173
3GainND
SDR42E1-
-
-
-
1LossND
SDSp.D137A
Missense
SNP
0.596
2-ND
SEC11A-
-
-
-
3GainND
SEC14L2-
-
-
-
3GainND
SEC14L3p.I68S
Missense
SNP
0.183
3GainND
SEC14L4-
-
-
-
3GainND
SEC14L6-
-
-
-
3GainND
SEC16Bp.D969N
p.P966L
Missense
Missense
SNP
SNP
0.769
0.776
3GainND
SEC23Bp.Q145*
Nonsense
SNP
0.195
2-ND
SEC24B-
-
-
-
1LossND
SEC24Dp.P64S
Missense
SNP
1.000
1LossND
SEC31A-
-
-
-
1LossND
SEC61A2-
-
-
-
1LossND
SEC61G-
-
-
-
3GainND
SEL1L3p.M610I
Missense
SNP
0.561
2-ND
SELE-
-
-
-
3GainND
SELENOM-
-
-
-
3GainND
SELENON-
-
-
-
3GainND
SELENOP-
-
-
-
3GainND
SELENOS-
-
-
-
3GainND
SELL-
-
-
-
3GainND
SELOp.S222F
Missense
SNP
0.227
NDNDND
SELP-
-
-
-
3GainND
SEM1-
-
-
-
3GainND
SEMA3A-
-
-
-
4GainND
SEMA3C-
-
-
-
4GainND
SEMA3D-
-
-
-
4GainND
SEMA3E-
-
-
-
4GainND
SEMA4A-
-
-
-
3GainND
SEMA4B-
-
-
-
3GainND
SEMA5Bp.R458C
Missense
SNP
0.416
2-ND
SEMA7A-
-
-
-
3GainND
SEMG1p.D416N
Missense
SNP
0.246
2-ND
SEMG2p.T236I
Missense
SNP
0.513
2-ND
SENP8-
-
-
-
1LossND
SEPHS1-
-
-
-
1LossND
SEPT11-
-
-
-
1LossND
SEPT14-
-
-
-
3GainND
SEPT5-
-
-
-
3GainND
SEPT5-GP1BB-
-
-
-
3GainND
SEPT7-
-
-
-
3GainND
SERF1A-
-
-
-
1LossND
SERF1B-
-
-
-
1LossND
SERINC2-
-
-
-
3GainND
SERINC4p.X153_splice
Splice_Site
SNP
0.423
2-ND
SERPINB7p.G341E
Missense
SNP
0.506
2-ND
SERPINC1-
-
-
-
3GainND
SERPIND1-
-
-
-
3GainND
SERPINE1-
-
-
-
3GainND
SERTAD4-
-
-
-
3GainND
SESN1p.P295S
Missense
SNP
0.328
2-ND
SESN2-
-
-
-
3GainND
SETBP1p.P31S
Missense
SNP
0.664
2-ND
SETD6-
-
-
-
1LossND
SETD7-
-
-
-
3GainND
SETD9-
-
-
-
3GainND
SEZ6p.G19E
Missense
SNP
0.294
2-ND
SEZ6Lp.A605V
p.D796N
Missense
Missense
SNP
SNP
0.235
0.205
3GainND
SF3A1-
-
-
-
3GainND
SF3B3-
-
-
-
1LossND
SFI1p.Q402*
Nonsense
SNP
0.539
3GainND
SFMBT2-
-
-
-
1LossND
SFN-
-
-
-
3GainND
SFPQ-
-
-
-
3GainND
SFRP2-
-
-
-
1LossND
SFRP4-
-
-
-
3GainND
SFT2D2-
-
-
-
3GainND
SGCE-
-
-
-
4GainND
SGF29p.N37T
Missense
SNP
0.314
2-ND
SGK2p.D228N
Missense
SNP
0.364
2-ND
SGMS1-
-
-
-
1LossND
SGMS2-
-
-
-
1LossND
SGSM1p.S512L
Missense
SNP
0.254
3GainND
SGSM3-
-
-
-
3GainND
SH2B2-
-
-
-
3GainND
SH2D1B-
-
-
-
3GainND
SH2D2A-
-
-
-
3GainND
SH2D5-
-
-
-
3GainND
SH2D7-
-
-
-
3GainND
SH3BGRL3-
-
-
-
3GainND
SH3BP1-
-
-
-
3GainND
SH3BP2-
-
-
-
3GainND
SH3BP4p.S355F
Missense
SNP
0.225
2-ND
SH3BP5L-
-
-
-
3GainND
SH3D19-
-
-
-
1LossND
SH3D21-
-
-
-
3GainND
SH3GL2-
-
-
-
0DelND
SH3GL3-
-
-
-
3GainND
SH3RF1-
-
-
-
3GainND
SH3RF2p.R263C
p.T724I
Missense
Missense
SNP
SNP
0.317
0.407
2-ND
SHANK3p.D340N
p.S944F
Missense
Missense
SNP
DNP
0.523
0.520
2-ND
SHB-
-
-
-
1LossND
SHC1-
-
-
-
3GainND
SHCBP1-
-
-
-
1LossND
SHCBP1L-
-
-
-
3GainND
SHE-
-
-
-
3GainND
SHH-
-
-
-
3GainND
SHISA4-
-
-
-
3GainND
SHISA5p.E70K
Missense
SNP
0.253
2-ND
SHPKp.P303S
Missense
SNP
0.648
2-ND
SHROOM3-
-
-
-
1LossND
SIp.D1028N
p.D833N
Missense
Missense
SNP
SNP
0.311
0.238
2-ND
SIAH1-
-
-
-
1LossND
SIGLEC7p.G177E
Missense
SNP
0.238
2-ND
SIGMAR1-
-
-
-
0DelND
SIK3p.S978L
Missense
SNP
0.709
2-ND
SIN3A-
-
-
-
3GainND
SIPA1L2-
-
-
-
3GainND
SIT1-
-
-
-
1LossND
SKAP2-
-
-
-
3GainND
SKI-
-
-
-
3GainND
SKIDA1-
-
-
-
1LossND
SKIV2Lp.K1004I
Missense
DNP
0.304
2-ND
SKOR1-
-
-
-
3GainND
SKP2-
-
-
-
3GainND
SLAMF1-
-
-
-
3GainND
SLAMF6-
-
-
-
3GainND
SLAMF7-
-
-
-
3GainND
SLAMF8p.A14T
Missense
SNP
0.817
3GainND
SLAMF9-
-
-
-
3GainND
SLC10A6-
-
-
-
1LossND
SLC10A7-
-
-
-
3GainND
SLC12A3-
-
-
-
1LossND
SLC12A4-
-
-
-
1LossND
SLC12A8p.S232F
Missense
SNP
0.180
2-ND
SLC12A9-
-
-
-
3GainND
SLC13A1-
-
-
-
3GainND
SLC15A2p.R492C
Missense
SNP
0.456
2-ND
SLC16A14p.S302L
Missense
SNP
0.251
2-ND
SLC16A8-
-
-
-
3GainND
SLC16A9-
-
-
-
1LossND
SLC18A1p.P300S
Missense
SNP
0.612
2-ND
SLC18A2p.D460N
Missense
SNP
0.343
2-ND
SLC18A3-
-
-
-
1LossND
SLC19A2-
-
-
-
3GainND
SLC1A1-
-
-
-
0DelND
SLC1A3-
-
-
-
3GainND
SLC1A7p.P44L
Missense
SNP
0.439
2-ND
SLC22A17-
-
-
-
1LossND
SLC22A25p.E458K
Missense
SNP
0.362
2-ND
SLC22A31-
-
-
-
1LossND
SLC23A1p.E504K
Missense
SNP
0.621
2-ND
SLC24A1-
-
-
-
3GainND
SLC24A2-
-
-
-
0DelND
SLC24A3p.D177N
Missense
SNP
0.241
2-ND
SLC24A4p.F612Y
Missense
SNP
0.291
2-ND
SLC25A1-
-
-
-
3GainND
SLC25A13-
-
-
-
3GainND
SLC25A17-
-
-
-
3GainND
SLC25A18-
-
-
-
3GainND
SLC25A23p.L226F
Missense
SNP
0.482
2-ND
SLC25A31-
-
-
-
3GainND
SLC25A33-
-
-
-
3GainND
SLC25A34-
-
-
-
3GainND
SLC25A4-
-
-
-
3GainND
SLC25A40-
-
-
-
3GainND
SLC25A44-
-
-
-
3GainND
SLC25A51-
-
-
-
1LossND
SLC26A3-
-
-
-
3GainND
SLC26A4-
-
-
-
3GainND
SLC26A5-
-
-
-
3GainND
SLC26A7p.S270L
Missense
SNP
0.482
2-ND
SLC26A9-
-
-
-
3GainND
SLC27A1p.E525K
Missense
SNP
0.245
2-ND
SLC27A3-
-
-
-
3GainND
SLC27A6p.G378E
Missense
SNP
0.240
2-ND
SLC28A1-
-
-
-
3GainND
SLC29A4-
-
-
-
3GainND
SLC2A10p.T21I
Missense
SNP
0.469
2-ND
SLC2A11p.L224F
Missense
DNP
0.536
3GainND
SLC2A5-
-
-
-
3GainND
SLC2A7-
-
-
-
3GainND
SLC30A1-
-
-
-
3GainND
SLC30A10-
-
-
-
3GainND
SLC30A2-
-
-
-
3GainND
SLC35E2A-
-
-
-
3GainND
SLC35E2B-
-
-
-
3GainND
SLC35E4-
-
-
-
3GainND
SLC35F3-
-
-
-
3GainND
SLC38A4p.R104K
Missense
SNP
0.681
2-ND
SLC38A7-
-
-
-
1LossND
SLC38A8-
-
-
-
1LossND
SLC38A9-
-
-
-
3GainND
SLC39A1-
-
-
-
3GainND
SLC39A12-
-
-
-
1LossND
SLC39A8-
-
-
-
1LossND
SLC41A1-
-
-
-
3GainND
SLC44A3p.P169S
Missense
SNP
0.722
2-ND
SLC45A1-
-
-
-
3GainND
SLC45A3-
-
-
-
3GainND
SLC4A2-
-
-
-
3GainND
SLC50A1-
-
-
-
3GainND
SLC51B-
-
-
-
3GainND
SLC52A3p.S228F
Missense
SNP
0.209
2-ND
SLC5A1-
-
-
-
3GainND
SLC5A4-
-
-
-
3GainND
SLC6A2-
-
-
-
1LossND
SLC6A3p.S7F
Missense
SNP
0.538
2-ND
SLC6A9p.L658F
Missense
SNP
0.464
2-ND
SLC7A11-
-
-
-
3GainND
SLC7A13p.L369I
Missense
SNP
0.338
2-ND
SLC7A4-
-
-
-
3GainND
SLC7A5-
-
-
-
1LossND
SLC7A6-
-
-
-
1LossND
SLC7A6OS-
-
-
-
1LossND
SLC7A8-
-
-
-
1LossND
SLC8A3p.M316I
p.P242S
p.E103K
Missense
Missense
Missense
SNP
SNP
SNP
0.318
0.263
0.735
2-ND
SLC9A1-
-
-
-
3GainND
SLC9A5-
-
-
-
1LossND
SLC9B1-
-
-
-
1LossND
SLC9B2-
-
-
-
1LossND
SLC9C2p.D145H
Missense
SNP
0.145
3GainND
SLCO1C1p.G91V
Missense
SNP
0.570
2-ND
SLCO2A1p.D600N
Missense
SNP
0.251
2-ND
SLCO2B1p.S159F
Missense
SNP
0.330
2-ND
SLCO3A1-
-
-
-
3GainND
SLCO4A1p.Y515D
Missense
SNP
0.241
2-ND
SLCO5A1p.G257E
Missense
SNP
0.266
2-ND
SLFN13p.T156I
Missense
SNP
0.324
2-ND
SLFN14p.G241R
Missense
DNP
0.605
2-ND
SLITRK4p.S83L
Missense
SNP
0.500
NDNDND
SLTM-
-
-
-
3GainND
SMAD1-
-
-
-
3GainND
SMAD3-
-
-
-
3GainND
SMAD6-
-
-
-
3GainND
SMARCA2-
-
-
-
0DelND
SMARCA5-
-
-
-
3GainND
SMARCAD1-
-
-
-
1LossND
SMARCB1-
-
-
-
3GainND
SMARCD3-
-
-
-
3GainND
SMC1Bp.E787K
Missense
SNP
0.484
3GainND
SMG5-
-
-
-
3GainND
SMG7p.P565S
Missense
SNP
0.170
3GainND
SMIM1-
-
-
-
3GainND
SMIM12-
-
-
-
3GainND
SMIM27-
-
-
-
0DelND
SMIM30-
-
-
-
3GainND
SMKR1-
-
-
-
3GainND
SMN1-
-
-
-
1LossND
SMN2-
-
-
-
1LossND
SMO-
-
-
-
3GainND
SMPD3-
-
-
-
1LossND
SMPDL3B-
-
-
-
3GainND
SMTN-
-
-
-
3GainND
SMU1-
-
-
-
0DelND
SMURF1-
-
-
-
3GainND
SMYD2-
-
-
-
3GainND
SMYD3-
-
-
-
3GainND
SNAI3-
-
-
-
1LossND
SNAP29-
-
-
-
3GainND
SNAP47-
-
-
-
3GainND
SNAPC3-
-
-
-
0DelND
SNAPC5-
-
-
-
3GainND
SNAPIN-
-
-
-
3GainND
SNCA-
-
-
-
1LossND
SNCAIPp.G242E
p.D664N
Missense
Missense
SNP
SNP
0.308
0.605
2-ND
SND1-
-
-
-
3GainND
SNHG28-
-
-
-
3GainND
SNIP1-
-
-
-
3GainND
SNRNP40-
-
-
-
3GainND
SNRPA1-
-
-
-
3GainND
SNRPD3-
-
-
-
3GainND
SNRPE-
-
-
-
3GainND
SNRPN-
-
-
-
3GainND
SNTB2-
-
-
-
1LossND
SNTG1p.E468K
Missense
SNP
0.286
2-ND
SNUPN-
-
-
-
3GainND
SNURF-
-
-
-
3GainND
SNX1-
-
-
-
3GainND
SNX10-
-
-
-
3GainND
SNX13-
-
-
-
3GainND
SNX18-
-
-
-
3GainND
SNX20-
-
-
-
1LossND
SNX22-
-
-
-
3GainND
SNX25-
-
-
-
3GainND
SNX33-
-
-
-
3GainND
SNX8-
-
-
-
3GainND
SOAT1-
-
-
-
3GainND
SORBS2-
-
-
-
3GainND
SOSTDC1-
-
-
-
3GainND
SOWAHBp.E597K
Missense
SNP
1.000
1LossND
SOX10-
-
-
-
3GainND
SOX13-
-
-
-
3GainND
SP140p.E101K
p.G599R
Missense
Missense
SNP
SNP
0.304
0.211
2-ND
SP4-
-
-
-
3GainND
SP8-
-
-
-
3GainND
SPAAR-
-
-
-
1LossND
SPAG16p.P488S
Missense
SNP
0.511
2-ND
SPAG6-
-
-
-
1LossND
SPAG8-
-
-
-
1LossND
SPAM1-
-
-
-
3GainND
SPARCL1-
-
-
-
1LossND
SPATA13p.G1195E
Missense
SNP
0.436
2-ND
SPATA17-
-
-
-
3GainND
SPATA21-
-
-
-
3GainND
SPATA24p.P146S
Missense
SNP
0.565
2-ND
SPATA2L-
-
-
-
1LossND
SPATA31D3-
-
-
-
0DelND
SPATA31D4-
-
-
-
0DelND
SPATA33-
-
-
-
1LossND
SPATA4-
-
-
-
3GainND
SPATA45-
-
-
-
3GainND
SPATA46-
-
-
-
3GainND
SPATA48-
-
-
-
3GainND
SPATA5-
-
-
-
1LossND
SPATA6L-
-
-
-
0DelND
SPATA8-
-
-
-
3GainND
SPCS1-
-
-
-
3GainND
SPCS3-
-
-
-
3GainND
SPDYCp.P288S
Missense
SNP
0.203
2-ND
SPDYE3-
-
-
-
3GainND
SPECC1L-
-
-
-
3GainND
SPECC1L-ADORA2A-
-
-
-
3GainND
SPEF2p.L297F
Missense
SNP
0.440
2-ND
SPEN-
-
-
-
3GainND
SPERTp.S96F
p.E396K
Missense
Missense
SNP
SNP
0.277
0.330
2-ND
SPESP1-
-
-
-
3GainND
SPG21-
-
-
-
3GainND
SPG7-
-
-
-
1LossND
SPHAR-
-
-
-
3GainND
SPHKAPp.C1122Y
Missense
SNP
0.496
2-ND
SPINK4-
-
-
-
0DelND
SPIRE2-
-
-
-
1LossND
SPNS2p.D362N
Missense
SNP
0.297
2-ND
SPNS3p.G275R
Missense
SNP
0.507
2-ND
SPOCD1p.P261L
Missense
SNP
0.353
3GainND
SPOCK3-
-
-
-
3GainND
SPP1-
-
-
-
1LossND
SPRN-
-
-
-
1LossND
SPRR4p.S2F
Missense
SNP
0.239
2-ND
SPRTN-
-
-
-
3GainND
SPRY1-
-
-
-
1LossND
SPSB1-
-
-
-
3GainND
SPSB2p.R220K
Missense
SNP
0.665
2-ND
SPTA1p.L1745F
Missense
SNP
0.179
3GainND
SPTBN4p.R151W
Missense
SNP
0.478
2-ND
SRARP-
-
-
-
3GainND
SRGAP2-
-
-
-
3GainND
SRI-
-
-
-
3GainND
SRM-
-
-
-
3GainND
SRP9-
-
-
-
3GainND
SRPK2-
-
-
-
3GainND
SRRD-
-
-
-
3GainND
SRRM1-
-
-
-
3GainND
SRRM3-
-
-
-
3GainND
SRRT-
-
-
-
3GainND
SRSF10-
-
-
-
3GainND
SRSF4-
-
-
-
3GainND
SSC4D-
-
-
-
3GainND
SSH1p.S648F
p.N297K
Missense
Missense
SNP
SNP
0.358
0.637
2-ND
SSMEM1-
-
-
-
3GainND
SSPOp.P1223S
p.E1979K
Missense
Missense
DNP
SNP
0.259
0.500
3GainND
SSR2-
-
-
-
3GainND
SSTR2p.M161I
Missense
SNP
0.337
2-ND
SSTR3p.G96R
Missense
SNP
0.408
3GainND
SSU72-
-
-
-
3GainND
SSU72P8-
-
-
-
3GainND
ST13-
-
-
-
3GainND
ST20-
-
-
-
3GainND
ST20-MTHFS-
-
-
-
3GainND
ST3GAL2-
-
-
-
1LossND
ST6GAL2p.G161E
Missense
SNP
0.258
2-ND
ST7-
-
-
-
3GainND
ST8SIA2-
-
-
-
3GainND
ST8SIA6-
-
-
-
1LossND
STAB2p.R644Q
p.V795I
Missense
Missense
SNP
SNP
0.267
0.299
2-ND
STAG3-
-
-
-
3GainND
STAM-
-
-
-
1LossND
STARD3NL-
-
-
-
3GainND
STARD5-
-
-
-
3GainND
STAU1p.S101F
Missense
SNP
0.436
2-ND
STBD1-
-
-
-
1LossND
STEAP1-
-
-
-
3GainND
STEAP1B-
-
-
-
3GainND
STEAP2-
-
-
-
3GainND
STEAP4-
-
-
-
3GainND
STK17A-
-
-
-
3GainND
STK31-
-
-
-
3GainND
STK32C-
-
-
-
1LossND
STK4p.X435_splice
Splice_Site
DNP
0.533
2-ND
STK40-
-
-
-
3GainND
STMN1-
-
-
-
3GainND
STMN2p.E10K
Missense
SNP
0.226
2-ND
STOML1-
-
-
-
3GainND
STOML2-
-
-
-
1LossND
STON1p.Q537*
Nonsense
SNP
0.490
2-ND
STON2p.V655A
Missense
SNP
0.327
2-ND
STOX2-
-
-
-
3GainND
STPG1-
-
-
-
3GainND
STPG2-
-
-
-
1LossND
STRA6p.L101F
Missense
SNP
0.536
3GainND
STRC-
-
-
-
0DelND
STRIP2-
-
-
-
3GainND
STUM-
-
-
-
3GainND
STX12-
-
-
-
3GainND
STX1A-
-
-
-
3GainND
STX6-
-
-
-
3GainND
STXBP2p.P513L
Missense
SNP
0.552
2-ND
STXBP5Lp.S725F
Missense
SNP
0.265
2-ND
STYK1p.D217N
Missense
SNP
0.633
2-ND
STYXL1-
-
-
-
3GainND
SUCLA2p.S186L
Missense
SNP
0.323
2-ND
SUCO-
-
-
-
3GainND
SUGCT-
-
-
-
3GainND
SULF1p.S242F
p.R595G
Missense
Missense
SNP
SNP
0.338
0.470
2-ND
SULT1C2p.S102F
Missense
SNP
0.242
2-ND
SUMF2-
-
-
-
3GainND
SUN1-
-
-
-
3GainND
SUN2-
-
-
-
3GainND
SUN3-
-
-
-
3GainND
SUPT6Hp.R265C
Missense
DNP
0.361
2-ND
SUSD2-
-
-
-
3GainND
SUSD4-
-
-
-
3GainND
SUV39H2-
-
-
-
1LossND
SV2B-
-
-
-
3GainND
SVEP1p.S2835T
Missense
SNP
1.000
2-ND
SVIL-
-
-
-
1LossND
SWT1p.S480R
Missense
SNP
0.152
3GainND
SYCE1-
-
-
-
1LossND
SYCE1L-
-
-
-
1LossND
SYF2-
-
-
-
3GainND
SYN3-
-
-
-
3GainND
SYNC-
-
-
-
3GainND
SYNDIG1Lp.E65K
Missense
SNP
0.287
2-ND
SYNE1p.R6817Q
p.H4819Y
p.W2530*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.578
0.329
0.371
2-ND
SYNGR1-
-
-
-
3GainND
SYNM-
-
-
-
3GainND
SYNPO2-
-
-
-
1LossND
SYPL1-
-
-
-
3GainND
SYT11-
-
-
-
3GainND
SYT14-
-
-
-
3GainND
SYT15-
-
-
-
1LossND
SYT2-
-
-
-
3GainND
SYTL1-
-
-
-
3GainND
SZRD1-
-
-
-
3GainND
TAB1-
-
-
-
3GainND
TAC1-
-
-
-
3GainND
TACR3p.K332N
Missense
SNP
1.000
1LossND
TADA1-
-
-
-
3GainND
TAF12-
-
-
-
3GainND
TAF1A-
-
-
-
3GainND
TAF1C-
-
-
-
1LossND
TAF1L-
-
-
-
0DelND
TAF3-
-
-
-
1LossND
TAF5L-
-
-
-
3GainND
TAF6-
-
-
-
3GainND
TAGLN2-
-
-
-
3GainND
TANC2p.L1085F
Missense
SNP
0.336
2-ND
TANGO2-
-
-
-
3GainND
TANGO6-
-
-
-
1LossND
TARBP1-
-
-
-
3GainND
TARDBP-
-
-
-
3GainND
TARSL2-
-
-
-
3GainND
TAS1R1-
-
-
-
3GainND
TAS1R2-
-
-
-
3GainND
TAS1R3-
-
-
-
3GainND
TAS2R16p.Q5*
Nonsense
SNP
0.597
3GainND
TAT-
-
-
-
1LossND
TATDN3-
-
-
-
3GainND
TAX1BP1-
-
-
-
3GainND
TBC1D10A-
-
-
-
3GainND
TBC1D21-
-
-
-
3GainND
TBC1D22A-
-
-
-
3GainND
TBC1D2B-
-
-
-
3GainND
TBC1D9p.P1252L
Missense
SNP
0.280
3GainND
TBCE-
-
-
-
3GainND
TBCK-
-
-
-
1LossND
TBL2-
-
-
-
3GainND
TBRG4-
-
-
-
3GainND
TBX1-
-
-
-
3GainND
TBX10p.N79Y
Missense
SNP
0.344
2-ND
TBX19-
-
-
-
3GainND
TBX20-
-
-
-
3GainND
TCEA3-
-
-
-
3GainND
TCEAL2p.R110K
Missense
SNP
0.490
NDNDND
TCF12-
-
-
-
3GainND
TCF25p.D301N
Missense
DNP
0.989
1LossND
TCHHL1p.E556K
Missense
SNP
0.525
2-ND
TCN2-
-
-
-
3GainND
TDO2-
-
-
-
3GainND
TDRD10-
-
-
-
3GainND
TDRD12p.Q3*
Nonsense
SNP
0.220
2-ND
TDRD5p.W541G
Missense
SNP
0.807
3GainND
TEAD2p.L164F
Missense
SNP
0.471
2-ND
TECPR1-
-
-
-
3GainND
TECTAp.P1764S
Missense
SNP
0.333
2-ND
TEDDM1-
-
-
-
3GainND
TEK-
-
-
-
0DelND
TEKT2-
-
-
-
3GainND
TENM1p.G2679E
Missense
SNP
0.476
NDNDND
TENM3-
-
-
-
3GainND
TENM4p.R1717Q
Missense
SNP
0.382
2-ND
TENT4B-
-
-
-
1LossND
TENT5B-
-
-
-
3GainND
TEPP-
-
-
-
1LossND
TERB1-
-
-
-
1LossND
TERF2-
-
-
-
1LossND
TERF2IP-
-
-
-
1LossND
TES-
-
-
-
3GainND
TESK1-
-
-
-
1LossND
TET2-
-
-
-
1LossND
TET3p.S985F
Missense
SNP
0.429
2-ND
TEX13Ap.D253N
Missense
SNP
1.000
NDNDND
TEX26p.L13F
Missense
SNP
0.244
2-ND
TEX33p.E104K
Missense
SNP
0.468
3GainND
TEX35-
-
-
-
3GainND
TEX46-
-
-
-
3GainND
TEX47-
-
-
-
3GainND
TEX50-
-
-
-
3GainND
TEX9-
-
-
-
3GainND
TFAM-
-
-
-
1LossND
TFAP2E-
-
-
-
3GainND
TFB2M-
-
-
-
3GainND
TFCP2p.R98Q
Missense
SNP
0.359
2-ND
TFEC-
-
-
-
3GainND
TFIP11-
-
-
-
3GainND
TFPI2-
-
-
-
4GainND
TFR2p.E36K
Missense
SNP
0.465
3GainND
TGFB2-
-
-
-
3GainND
TGM3p.Y313*
Nonsense
SNP
0.497
2-ND
THAP10-
-
-
-
3GainND
THAP11-
-
-
-
1LossND
THAP3-
-
-
-
3GainND
THAP5-
-
-
-
3GainND
THAP6-
-
-
-
1LossND
THAP7-
-
-
-
3GainND
THAP9-
-
-
-
1LossND
THBS3-
-
-
-
3GainND
THBS4p.D535N
Missense
SNP
0.592
2-ND
THEM5p.E97K
Missense
SNP
0.712
2-ND
THEMIS2-
-
-
-
3GainND
THNSL1-
-
-
-
1LossND
THOC2p.S827L
Missense
SNP
0.994
NDNDND
THOC5-
-
-
-
3GainND
THRAP3-
-
-
-
3GainND
THSD4-
-
-
-
3GainND
THSD7Ap.G1306E
Missense
SNP
0.173
3GainND
THSD7Bp.R544Q
Missense
SNP
0.585
2-ND
THTPA-
-
-
-
1LossND
TICRRp.R913*
Nonsense
SNP
0.252
3GainND
TIFA-
-
-
-
1LossND
TIGD2-
-
-
-
1LossND
TIGD3p.E456K
Missense
SNP
0.714
2-ND
TIGD4-
-
-
-
1LossND
TIMD4p.E372K
Missense
SNP
0.714
2-ND
TIMM17A-
-
-
-
3GainND
TIMM23-
-
-
-
1LossND
TIMM23B-
-
-
-
1LossND
TIMM44p.Q243*
Nonsense
SNP
0.244
2-ND
TIMP3-
-
-
-
3GainND
TINAGp.A266T
Missense
SNP
0.655
2-ND
TINAGL1-
-
-
-
3GainND
TIPIN-
-
-
-
3GainND
TIPRL-
-
-
-
3GainND
TJP1p.R1342W
Missense
SNP
0.287
3GainND
TK2-
-
-
-
1LossND
TKTL2-
-
-
-
3GainND
TLDC1-
-
-
-
1LossND
TLE3-
-
-
-
3GainND
TLE7-
-
-
-
1LossND
TLK2p.Q204*
Nonsense
SNP
0.263
2-ND
TLL1-
-
-
-
3GainND
TLN1-
-
-
-
1LossND
TLN2-
-
-
-
3GainND
TLNRD1-
-
-
-
3GainND
TLR2-
-
-
-
1LossND
TLR3-
-
-
-
3GainND
TLR4p.P539S
Missense
SNP
1.000
2-ND
TLR5-
-
-
-
3GainND
TLR8p.L932F
Missense
SNP
1.000
NDNDND
TM2D3-
-
-
-
3GainND
TM6SF1-
-
-
-
3GainND
TM7SF3p.X31_splice
Splice_Site
SNP
0.428
2-ND
TMA16-
-
-
-
3GainND
TMBIM1p.T237F
Missense
DNP
0.517
2-ND
TMC2p.L782F
Missense
SNP
0.212
2-ND
TMC3p.G405E
Missense
SNP
0.553
3GainND
TMCC2-
-
-
-
3GainND
TMCO1-
-
-
-
3GainND
TMCO4-
-
-
-
3GainND
TMED3-
-
-
-
3GainND
TMED4-
-
-
-
3GainND
TMED6-
-
-
-
1LossND
TMEM106B-
-
-
-
3GainND
TMEM120A-
-
-
-
3GainND
TMEM121B-
-
-
-
3GainND
TMEM130p.R336K
Missense
SNP
0.330
3GainND
TMEM131L-
-
-
-
1LossND
TMEM135p.Q269*
Nonsense
SNP
0.689
2-ND
TMEM136p.L139F
Missense
SNP
0.349
2-ND
TMEM144-
-
-
-
3GainND
TMEM150C-
-
-
-
1LossND
TMEM154-
-
-
-
1LossND
TMEM155-
-
-
-
1LossND
TMEM158p.G21R
Missense
SNP
0.256
2-ND
TMEM168-
-
-
-
3GainND
TMEM170A-
-
-
-
1LossND
TMEM174p.D110N
Missense
SNP
0.368
2-ND
TMEM176A-
-
-
-
3GainND
TMEM176B-
-
-
-
3GainND
TMEM183A-
-
-
-
3GainND
TMEM184A-
-
-
-
3GainND
TMEM184B-
-
-
-
3GainND
TMEM184C-
-
-
-
3GainND
TMEM191B-
-
-
-
3GainND
TMEM191C-
-
-
-
3GainND
TMEM192-
-
-
-
3GainND
TMEM196-
-
-
-
3GainND
TMEM200B-
-
-
-
3GainND
TMEM201-
-
-
-
3GainND
TMEM202-
-
-
-
3GainND
TMEM203p.S68F
Missense
SNP
1.000
2-ND
TMEM206-
-
-
-
3GainND
TMEM208-
-
-
-
1LossND
TMEM209-
-
-
-
3GainND
TMEM211-
-
-
-
3GainND
TMEM215-
-
-
-
0DelND
TMEM222-
-
-
-
3GainND
TMEM225B-
-
-
-
3GainND
TMEM229A-
-
-
-
3GainND
TMEM231-
-
-
-
1LossND
TMEM234-
-
-
-
3GainND
TMEM236-
-
-
-
1LossND
TMEM240-
-
-
-
3GainND
TMEM243-
-
-
-
4GainND
TMEM248-
-
-
-
3GainND
TMEM266-
-
-
-
3GainND
TMEM267-
-
-
-
3GainND
TMEM270-
-
-
-
3GainND
TMEM273-
-
-
-
1LossND
TMEM35B-
-
-
-
3GainND
TMEM39B-
-
-
-
3GainND
TMEM40p.S64F
Missense
SNP
0.354
2-ND
TMEM50A-
-
-
-
3GainND
TMEM51-
-
-
-
3GainND
TMEM52-
-
-
-
3GainND
TMEM54-
-
-
-
3GainND
TMEM60-
-
-
-
4GainND
TMEM63A-
-
-
-
3GainND
TMEM63Cp.E721K
Missense
SNP
0.410
2-ND
TMEM72-
-
-
-
1LossND
TMEM74p.D32N
Missense
SNP
0.390
2-ND
TMEM79-
-
-
-
3GainND
TMEM81-
-
-
-
3GainND
TMEM82-
-
-
-
3GainND
TMEM88B-
-
-
-
3GainND
TMEM8B-
-
-
-
1LossND
TMEM9-
-
-
-
3GainND
TMPRSS11Fp.R274Q
Missense
SNP
0.375
2-ND
TMPRSS15p.D670N
p.P521S
p.D493N
Missense
Missense
Missense
SNP
SNP
SNP
0.347
0.307
0.353
2-ND
TMPRSS6-
-
-
-
3GainND
TMPRSS9p.G1000N
Missense
DNP
0.533
2-ND
TMUB1-
-
-
-
3GainND
TNFRSF14-
-
-
-
3GainND
TNFRSF18-
-
-
-
3GainND
TNFRSF1B-
-
-
-
3GainND
TNFRSF25p.Q101*
Nonsense
SNP
0.340
3GainND
TNFRSF4-
-
-
-
3GainND
TNFRSF8-
-
-
-
3GainND
TNFRSF9-
-
-
-
3GainND
TNFSF18-
-
-
-
3GainND
TNFSF4-
-
-
-
3GainND
TNIP2-
-
-
-
3GainND
TNIP3-
-
-
-
1LossND
TNN-
-
-
-
3GainND
TNNI1-
-
-
-
3GainND
TNNT2-
-
-
-
3GainND
TNPO3-
-
-
-
3GainND
TNRp.E544K
Missense
SNP
0.810
3GainND
TNRC18-
-
-
-
3GainND
TNRC6B-
-
-
-
3GainND
TNS3-
-
-
-
3GainND
TNXBp.S2002F
Missense
SNP
0.283
1LossND
TOM1p.S123F
Missense
SNP
0.244
3GainND
TOMM20-
-
-
-
3GainND
TOMM22-
-
-
-
3GainND
TOMM40L-
-
-
-
3GainND
TOMM5-
-
-
-
1LossND
TOMM7-
-
-
-
3GainND
TOP3B-
-
-
-
3GainND
TOPORS-
-
-
-
0DelND
TOR1AIP1-
-
-
-
3GainND
TOR1AIP2-
-
-
-
3GainND
TOR3A-
-
-
-
3GainND
TOX3-
-
-
-
1LossND
TP53p.R110C
Missense
SNP
0.267
2-ND
TP53BP2-
-
-
-
3GainND
TP73-
-
-
-
3GainND
TPD52L3-
-
-
-
0DelND
TPK1-
-
-
-
3GainND
TPM1-
-
-
-
3GainND
TPM2-
-
-
-
1LossND
TPM3-
-
-
-
3GainND
TPPP3-
-
-
-
1LossND
TPR-
-
-
-
3GainND
TPRG1L-
-
-
-
3GainND
TPST1-
-
-
-
3GainND
TPST2-
-
-
-
3GainND
TPTEP2-CSNK1E-
-
-
-
3GainND
TRA2A-
-
-
-
3GainND
TRADD-
-
-
-
1LossND
TRAF3IP3p.E193K
Missense
SNP
0.182
3GainND
TRAF5-
-
-
-
3GainND
TRAM1L1-
-
-
-
1LossND
TRANK1p.L1418F
Missense
SNP
0.210
2-ND
TRAPPC10p.E735*
Nonsense
SNP
0.645
2-ND
TRAPPC11-
-
-
-
3GainND
TRAPPC2L-
-
-
-
1LossND
TRAPPC3-
-
-
-
3GainND
TRAV12-1p.S51F
p.S93F
Missense
Missense
SNP
SNP
0.408
0.369
NDNDND
TRBV2p.S67F
Missense
SNP
0.403
NDNDND
TRDMT1-
-
-
-
1LossND
TRHRp.D237N
Missense
SNP
0.609
2-ND
TRIL-
-
-
-
3GainND
TRIM11-
-
-
-
3GainND
TRIM17-
-
-
-
3GainND
TRIM2-
-
-
-
1LossND
TRIM22p.R476*
Nonsense
SNP
0.640
2-ND
TRIM24p.N995K
Missense
SNP
0.688
NDNDND
TRIM4-
-
-
-
3GainND
TRIM41-
-
-
-
1LossND
TRIM46-
-
-
-
3GainND
TRIM50-
-
-
-
3GainND
TRIM52-
-
-
-
1LossND
TRIM56-
-
-
-
3GainND
TRIM58-
-
-
-
3GainND
TRIM60-
-
-
-
3GainND
TRIM61-
-
-
-
3GainND
TRIM62-
-
-
-
3GainND
TRIM63-
-
-
-
3GainND
TRIM64Bp.S379F
Missense
SNP
0.140
2-ND
TRIM67-
-
-
-
3GainND
TRIM7-
-
-
-
1LossND
TRIM71p.S396F
Missense
SNP
0.205
2-ND
TRIM73-
-
-
-
3GainND
TRIM74-
-
-
-
3GainND
TRIM75P-
-
-
-
3GainND
TRIML1p.E45K
Missense
SNP
0.549
3GainND
TRIML2-
-
-
-
3GainND
TRIOBP-
-
-
-
3GainND
TRIP10p.L569F
Missense
SNP
0.500
2-ND
TRIP4-
-
-
-
3GainND
TRIP6-
-
-
-
3GainND
TRMT10A-
-
-
-
1LossND
TRMT10B-
-
-
-
1LossND
TRMT1L-
-
-
-
3GainND
TRMT2A-
-
-
-
3GainND
TRMU-
-
-
-
3GainND
TRNAU1AP-
-
-
-
3GainND
TRNP1-
-
-
-
3GainND
TROAPp.S123F
Missense
SNP
0.372
2-ND
TROVE2-
-
-
-
3GainND
TRPC3-
-
-
-
1LossND
TRPM1p.S1601F
Missense
SNP
0.377
3GainND
TRPM6p.S504L
Missense
SNP
1.000
2-ND
TRPV5p.R589K
Missense
SNP
0.357
NDNDND
TRRAP-
-
-
-
3GainND
TRUB2p.R271K
Missense
SNP
1.000
2-ND
TSACC-
-
-
-
3GainND
TSC22D4-
-
-
-
3GainND
TSEN15-
-
-
-
3GainND
TSGA13-
-
-
-
3GainND
TSHRp.D487N
Missense
SNP
0.249
2-ND
TSHZ3p.S525F
Missense
SNP
0.468
2-ND
TSKSp.G413E
Missense
SNP
0.479
2-ND
TSKUp.A10V
Missense
SNP
0.291
2-ND
TSNAX-
-
-
-
3GainND
TSNAX-DISC1-
-
-
-
3GainND
TSNAXIP1-
-
-
-
1LossND
TSPAN12-
-
-
-
3GainND
TSPAN13-
-
-
-
3GainND
TSPAN3-
-
-
-
3GainND
TSPAN33-
-
-
-
3GainND
TSPAN5-
-
-
-
1LossND
TSPAN8p.I116N
Missense
SNP
0.329
2-ND
TSR1p.R279*
Nonsense
SNP
0.365
2-ND
TSSK2-
-
-
-
3GainND
TSSK3-
-
-
-
3GainND
TST-
-
-
-
3GainND
TSTD1-
-
-
-
3GainND
TTC12p.A83V
Missense
SNP
0.308
2-ND
TTC13-
-
-
-
3GainND
TTC23-
-
-
-
3GainND
TTC24-
-
-
-
3GainND
TTC28-
-
-
-
3GainND
TTC29p.H187Y
Missense
SNP
0.591
3GainND
TTC33-
-
-
-
3GainND
TTC34-
-
-
-
3GainND
TTC38-
-
-
-
3GainND
TTC39B-
-
-
-
0DelND
TTC6p.E114K
Missense
SNP
0.356
2-ND
TTLL10-
-
-
-
3GainND
TTLL13P-
-
-
-
3GainND
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
0.229
0.162
0.284
0.199
0.506
0.185
0.273
0.414
0.471
0.494
0.221
0.232
0.437
0.424
0.286
2-ND
TTYH3-
-
-
-
3GainND
TUBA8-
-
-
-
3GainND
TUBAL3-
-
-
-
1LossND
TUBB3-
-
-
-
1LossND
TUBB8-
-
-
-
1LossND
TUBGCP2-
-
-
-
1LossND
TUBGCP5-
-
-
-
3GainND
TUBGCP6p.S629Y
Missense
DNP
0.490
2-ND
TULP2p.R170Q
Missense
SNP
0.195
2-ND
TUSC1-
-
-
-
0DelND
TWIST1-
-
-
-
3GainND
TWISTNB-
-
-
-
3GainND
TXKp.P268L
Missense
SNP
0.253
2-ND
TXLNA-
-
-
-
3GainND
TXN2-
-
-
-
3GainND
TXNDC16p.P115S
Missense
SNP
0.368
2-ND
TXNL4B-
-
-
-
1LossND
TXNRD2-
-
-
-
3GainND
TYRP1-
-
-
-
0DelND
TYW1-
-
-
-
3GainND
TYW1Bp.E242K
Missense
SNP
0.160
3GainND
UACA-
-
-
-
3GainND
UAP1-
-
-
-
3GainND
UBAP1-
-
-
-
0DelND
UBAP1L-
-
-
-
3GainND
UBAP2-
-
-
-
0DelND
UBAP2L-
-
-
-
3GainND
UBE2D1-
-
-
-
1LossND
UBE2D3-
-
-
-
1LossND
UBE2D4-
-
-
-
3GainND
UBE2H-
-
-
-
3GainND
UBE2J2-
-
-
-
3GainND
UBE2L3-
-
-
-
3GainND
UBE2Q1-
-
-
-
3GainND
UBE2Q2-
-
-
-
3GainND
UBE2Q2L-
-
-
-
3GainND
UBE2QL1p.E149K
Missense
SNP
0.249
2-ND
UBE2R2-
-
-
-
0DelND
UBE2T-
-
-
-
3GainND
UBE3A-
-
-
-
3GainND
UBE3C-
-
-
-
3GainND
UBE4B-
-
-
-
3GainND
UBIAD1-
-
-
-
3GainND
UBL7-
-
-
-
3GainND
UBN2p.R247C
Missense
SNP
0.117
NDNDND
UBQLN4-
-
-
-
3GainND
UBR4-
-
-
-
3GainND
UBXN10-
-
-
-
3GainND
UBXN11-
-
-
-
3GainND
UCHL5-
-
-
-
3GainND
UCK2-
-
-
-
3GainND
UCMA-
-
-
-
1LossND
UCN3-
-
-
-
1LossND
UCP1-
-
-
-
3GainND
UFC1-
-
-
-
3GainND
UFD1-
-
-
-
3GainND
UFSP1-
-
-
-
3GainND
UFSP2-
-
-
-
3GainND
UGT1A10p.S122L
Missense
SNP
0.239
2-ND
UGT2A3p.P387S
Missense
SNP
0.425
2-ND
UGT2B15p.D493N
Missense
SNP
0.258
2-ND
UGT8-
-
-
-
1LossND
UHMK1-
-
-
-
3GainND
UHRF2-
-
-
-
0DelND
ULK3-
-
-
-
3GainND
ULK4p.S1110F
Missense
SNP
0.309
2-ND
UMAD1-
-
-
-
3GainND
UNC13B-
-
-
-
1LossND
UNC13Cp.E85D
p.D919N
p.L2203P
Missense
Missense
Missense
SNP
SNP
SNP
0.439
0.362
0.567
3GainND
UNC45A-
-
-
-
3GainND
UNC5C-
-
-
-
1LossND
UNC5Dp.Q910*
Nonsense
SNP
0.710
2-ND
UNC80p.D1373N
p.E2185K
Missense
Missense
SNP
SNP
0.143
0.244
2-ND
UNCX-
-
-
-
3GainND
UPB1-
-
-
-
3GainND
UPF2-
-
-
-
1LossND
UPK3B-
-
-
-
3GainND
UPK3BL1-
-
-
-
3GainND
UPP1-
-
-
-
3GainND
UQCR10-
-
-
-
3GainND
UQCRHL-
-
-
-
3GainND
URB2-
-
-
-
3GainND
URGCP-
-
-
-
3GainND
URGCP-MRPS24-
-
-
-
3GainND
UROC1p.A196V
Missense
SNP
0.457
2-ND
USB1-
-
-
-
1LossND
USF1-
-
-
-
3GainND
USH2Ap.R2509W
p.P1531S
Missense
Missense
SNP
SNP
0.181
0.842
3GainND
USHBP1p.L269F
Missense
SNP
0.228
2-ND
USO1-
-
-
-
1LossND
USP10-
-
-
-
1LossND
USP18-
-
-
-
3GainND
USP19p.P289L
Missense
SNP
0.306
2-ND
USP21-
-
-
-
3GainND
USP26p.S787F
Missense
SNP
0.439
NDNDND
USP3-
-
-
-
3GainND
USP38-
-
-
-
3GainND
USP41p.G61E
Missense
SNP
0.218
3GainND
USP42-
-
-
-
3GainND
USP43p.E316K
Missense
SNP
0.264
2-ND
USP46p.R60W
Missense
SNP
0.231
2-ND
USP48-
-
-
-
3GainND
USP53-
-
-
-
1LossND
USP6NL-
-
-
-
1LossND
UTF1-
-
-
-
1LossND
UTP14Cp.D601Y
Missense
SNP
0.293
2-ND
UTP25-
-
-
-
3GainND
UTP4-
-
-
-
1LossND
UTS2-
-
-
-
3GainND
VAC14-
-
-
-
1LossND
VAMP3-
-
-
-
3GainND
VAMP4-
-
-
-
3GainND
VANGL2-
-
-
-
3GainND
VASH2-
-
-
-
3GainND
VAT1L-
-
-
-
1LossND
VCP-
-
-
-
1LossND
VEGFC-
-
-
-
3GainND
VENTX-
-
-
-
1LossND
VGF-
-
-
-
3GainND
VHLL-
-
-
-
3GainND
VIM-
-
-
-
1LossND
VIPR1p.D362N
Missense
SNP
0.506
2-ND
VIPR2-
-
-
-
3GainND
VKORC1L1-
-
-
-
3GainND
VLDLR-
-
-
-
0DelND
VOPP1-
-
-
-
3GainND
VPREB1-
-
-
-
3GainND
VPREB3-
-
-
-
3GainND
VPS13Ap.D2685N
Missense
SNP
0.627
2-ND
VPS13C-
-
-
-
3GainND
VPS13D-
-
-
-
3GainND
VPS33Ap.R70C
Missense
SNP
0.516
2-ND
VPS33B-
-
-
-
3GainND
VPS35-
-
-
-
1LossND
VPS37D-
-
-
-
3GainND
VPS41-
-
-
-
3GainND
VPS4A-
-
-
-
1LossND
VPS50-
-
-
-
4GainND
VPS9D1-
-
-
-
1LossND
VRTNp.Q559*
Nonsense
SNP
0.310
2-ND
VSIG8-
-
-
-
3GainND
VSTM2A-
-
-
-
3GainND
VSTM4-
-
-
-
1LossND
VTCN1p.P171T
Missense
SNP
0.770
2-ND
VWA1-
-
-
-
3GainND
VWA5B1-
-
-
-
3GainND
VWC2-
-
-
-
3GainND
VWDEp.S626L
Missense
SNP
0.155
3GainND
VWFp.P2694S
Missense
SNP
0.366
2-ND
WAC-
-
-
-
1LossND
WASp.W500*
Nonsense
SNP
0.431
NDNDND
WASF2-
-
-
-
3GainND
WASHC2A-
-
-
-
1LossND
WASHC2C-
-
-
-
1LossND
WASL-
-
-
-
3GainND
WBP1p.F34L
Missense
SNP
0.463
2-ND
WDFY3-
-
-
-
1LossND
WDFY4p.S1007F
Missense
SNP
0.462
1LossND
WDR1p.P417L
Missense
SNP
0.484
2-ND
WDR17-
-
-
-
3GainND
WDR18p.P352S
Missense
SNP
0.375
2-ND
WDR26-
-
-
-
3GainND
WDR35p.V373L
Missense
SNP
0.381
2-ND
WDR37-
-
-
-
1LossND
WDR59-
-
-
-
1LossND
WDR60-
-
-
-
3GainND
WDR61-
-
-
-
3GainND
WDR64-
-
-
-
3GainND
WDR66p.P881L
Missense
SNP
0.422
2-ND
WDR70-
-
-
-
3GainND
WDR72-
-
-
-
3GainND
WDR73-
-
-
-
3GainND
WDR86-
-
-
-
3GainND
WDR87p.M1862I
p.E1328K
Missense
Missense
SNP
SNP
0.524
0.260
2-ND
WDR93-
-
-
-
3GainND
WDTC1-
-
-
-
3GainND
WEE2p.G421R
Missense
SNP
0.340
NDNDND
WFDC1-
-
-
-
1LossND
WHAMM-
-
-
-
3GainND
WIPF3-
-
-
-
3GainND
WIPI2-
-
-
-
3GainND
WNT16-
-
-
-
3GainND
WNT2-
-
-
-
3GainND
WNT3A-
-
-
-
3GainND
WNT4-
-
-
-
3GainND
WNT6p.R244C
Missense
SNP
0.165
2-ND
WNT7B-
-
-
-
3GainND
WNT9A-
-
-
-
3GainND
WRAP73-
-
-
-
3GainND
WWC2-
-
-
-
3GainND
WWOXp.L225F
Missense
SNP
0.521
1LossND
WWP2-
-
-
-
1LossND
XBP1-
-
-
-
3GainND
XCL1-
-
-
-
3GainND
XCL2-
-
-
-
3GainND
XDHp.G458E
Missense
SNP
0.236
2-ND
XIRP1p.M1060I
Missense
SNP
0.505
2-ND
XIRP2p.H341Y
p.E568K
Missense
Missense
SNP
SNP
0.505
0.176
2-ND
XKR3-
-
-
-
3GainND
XKR5p.G558S
Missense
SNP
0.349
2-ND
XKR8-
-
-
-
3GainND
XPNPEP3-
-
-
-
3GainND
XPR1-
-
-
-
3GainND
XRCC2-
-
-
-
3GainND
XYLT1p.M445I
Missense
SNP
0.358
2-ND
YAE1-
-
-
-
3GainND
YARS-
-
-
-
3GainND
YDJC-
-
-
-
3GainND
YEATS2p.P472L
Missense
SNP
0.452
2-ND
YKT6-
-
-
-
3GainND
YME1L1-
-
-
-
1LossND
YOD1-
-
-
-
3GainND
YPEL1-
-
-
-
3GainND
YTHDF2-
-
-
-
3GainND
YWHAG-
-
-
-
3GainND
YWHAH-
-
-
-
3GainND
YY1AP1-
-
-
-
3GainND
Z82190.2-
-
-
-
3GainND
Z83844.1-
-
-
-
3GainND
Z83844.3-
-
-
-
3GainND
ZANp.Q2530*
Nonsense
SNP
0.548
3GainND
ZBED4-
-
-
-
3GainND
ZBED6-
-
-
-
3GainND
ZBED6CL-
-
-
-
3GainND
ZBTB17-
-
-
-
3GainND
ZBTB18-
-
-
-
3GainND
ZBTB22p.M524I
Missense
SNP
0.613
2-ND
ZBTB37-
-
-
-
3GainND
ZBTB4p.P288L
Missense
SNP
0.374
2-ND
ZBTB40-
-
-
-
3GainND
ZBTB41-
-
-
-
3GainND
ZBTB43p.P13S
Missense
SNP
0.656
2-ND
ZBTB47p.P408S
Missense
SNP
0.286
2-ND
ZBTB48-
-
-
-
3GainND
ZBTB5-
-
-
-
1LossND
ZBTB7B-
-
-
-
3GainND
ZBTB8A-
-
-
-
3GainND
ZBTB8B-
-
-
-
3GainND
ZBTB8OS-
-
-
-
3GainND
ZC3H11A-
-
-
-
3GainND
ZC3H12A-
-
-
-
3GainND
ZC3H18-
-
-
-
1LossND
ZC3HC1-
-
-
-
3GainND
ZC4H2p.K102E
Missense
SNP
0.571
NDNDND
ZCCHC14-
-
-
-
1LossND
ZCCHC17-
-
-
-
3GainND
ZCCHC7-
-
-
-
1LossND
ZCWPW1-
-
-
-
3GainND
ZCWPW2p.W150*
Nonsense
SNP
0.473
2-ND
ZDBF2p.R2047Q
Missense
DNP
0.513
2-ND
ZDHHC1-
-
-
-
1LossND
ZDHHC18-
-
-
-
3GainND
ZDHHC21-
-
-
-
0DelND
ZDHHC4-
-
-
-
3GainND
ZDHHC6p.S376T
Missense
SNP
1.000
2-ND
ZDHHC7-
-
-
-
1LossND
ZDHHC8-
-
-
-
3GainND
ZEB1-
-
-
-
1LossND
ZFAND2A-
-
-
-
3GainND
ZFAND4-
-
-
-
1LossND
ZFAND6-
-
-
-
3GainND
ZFHX2-
-
-
-
1LossND
ZFHX3p.L32F
Missense
SNP
1.000
1LossND
ZFHX4p.S2565F
Missense
SNP
0.220
2-ND
ZFP1-
-
-
-
1LossND
ZFP2p.E2K
Missense
SNP
0.389
2-ND
ZFP42-
-
-
-
3GainND
ZFP90-
-
-
-
1LossND
ZFPM1-
-
-
-
1LossND
ZFPM2p.P676L
Missense
SNP
0.495
2-ND
ZFR2p.P54S
Missense
SNP
0.512
2-ND
ZFYVE26p.L1914F
Missense
SNP
0.635
2-ND
ZGRF1-
-
-
-
1LossND
ZIM3p.G397E
Missense
SNP
0.244
2-ND
ZKSCAN1-
-
-
-
3GainND
ZKSCAN5-
-
-
-
3GainND
ZMAT2p.M133V
Missense
SNP
0.688
2-ND
ZMAT5-
-
-
-
3GainND
ZMIZ1p.S145L
Missense
SNP
0.718
2-ND
ZMIZ2-
-
-
-
3GainND
ZMYM1-
-
-
-
3GainND
ZMYM4-
-
-
-
3GainND
ZMYM6-
-
-
-
3GainND
ZMYND11-
-
-
-
1LossND
ZNF10p.S251L
Missense
SNP
0.596
2-ND
ZNF107-
-
-
-
3GainND
ZNF112p.E585K
p.C583R
Missense
Missense
SNP
SNP
0.214
0.254
2-ND
ZNF117-
-
-
-
3GainND
ZNF12-
-
-
-
3GainND
ZNF124-
-
-
-
3GainND
ZNF131-
-
-
-
3GainND
ZNF138-
-
-
-
3GainND
ZNF14p.R542C
Missense
SNP
0.223
2-ND
ZNF146p.H234Y
Missense
SNP
0.257
2-ND
ZNF182p.R282Q
Missense
SNP
1.000
NDNDND
ZNF19-
-
-
-
1LossND
ZNF202p.P456L
Missense
SNP
0.264
2-ND
ZNF212-
-
-
-
3GainND
ZNF22-
-
-
-
1LossND
ZNF227p.S136F
Missense
SNP
0.554
2-ND
ZNF23-
-
-
-
1LossND
ZNF233p.H308Y
Missense
SNP
0.187
2-ND
ZNF236p.D1566E
Missense
SNP
0.667
2-ND
ZNF239-
-
-
-
1LossND
ZNF248-
-
-
-
1LossND
ZNF25-
-
-
-
1LossND
ZNF273-
-
-
-
3GainND
ZNF276-
-
-
-
1LossND
ZNF277-
-
-
-
3GainND
ZNF280A-
-
-
-
3GainND
ZNF280B-
-
-
-
3GainND
ZNF280D-
-
-
-
3GainND
ZNF281-
-
-
-
3GainND
ZNF282-
-
-
-
3GainND
ZNF285p.S337F
Missense
SNP
0.222
2-ND
ZNF286Bp.A475V
Missense
DNP
0.495
2-ND
ZNF3-
-
-
-
3GainND
ZNF316-
-
-
-
3GainND
ZNF319-
-
-
-
1LossND
ZNF32-
-
-
-
1LossND
ZNF330-
-
-
-
3GainND
ZNF33A-
-
-
-
1LossND
ZNF33B-
-
-
-
1LossND
ZNF354Ap.P493S
Missense
SNP
0.618
2-ND
ZNF354Bp.S228F
Missense
SNP
0.280
2-ND
ZNF362-
-
-
-
3GainND
ZNF37A-
-
-
-
1LossND
ZNF394-
-
-
-
3GainND
ZNF398-
-
-
-
3GainND
ZNF419p.K448N
Missense
SNP
0.500
2-ND
ZNF420p.E388K
Missense
SNP
0.283
2-ND
ZNF423-
-
-
-
1LossND
ZNF425-
-
-
-
3GainND
ZNF436-
-
-
-
3GainND
ZNF438-
-
-
-
1LossND
ZNF467-
-
-
-
3GainND
ZNF469-
-
-
-
1LossND
ZNF479-
-
-
-
3GainND
ZNF485-
-
-
-
1LossND
ZNF486p.E113K
Missense
SNP
0.242
2-ND
ZNF487-
-
-
-
1LossND
ZNF488-
-
-
-
1LossND
ZNF492p.Q64*
Nonsense
SNP
0.266
2-ND
ZNF496-
-
-
-
3GainND
ZNF511-
-
-
-
1LossND
ZNF511-PRAP1-
-
-
-
1LossND
ZNF529p.P15L
Missense
SNP
0.274
2-ND
ZNF534p.D35N
p.S156F
p.H329Y
Missense
Missense
Missense
SNP
SNP
SNP
0.233
0.265
0.225
2-ND
ZNF544p.S683C
Missense
SNP
0.500
2-ND
ZNF560p.G690E
p.W178*
Missense
Nonsense
SNP
SNP
0.278
0.152
2-ND
ZNF564p.L71F
Missense
SNP
0.234
2-ND
ZNF573p.E271K
Missense
SNP
0.211
2-ND
ZNF578p.W38*
Nonsense
SNP
0.197
2-ND
ZNF583p.E381K
Missense
SNP
0.219
2-ND
ZNF585Ap.Q737*
Nonsense
SNP
0.541
2-ND
ZNF592-
-
-
-
3GainND
ZNF593-
-
-
-
3GainND
ZNF606p.G536R
p.G480R
p.P6L
Missense
Missense
Missense
SNP
SNP
SNP
0.261
0.467
0.304
2-ND
ZNF607p.E71K
Missense
SNP
0.476
2-ND
ZNF609p.A867V
Missense
SNP
0.296
3GainND
ZNF611p.H500Y
Missense
SNP
0.167
2-ND
ZNF638p.S310F
Missense
SNP
0.476
2-ND
ZNF648-
-
-
-
3GainND
ZNF652p.P497L
Missense
SNP
0.326
2-ND
ZNF655-
-
-
-
3GainND
ZNF667p.H437Y
p.R341K
Missense
Missense
SNP
SNP
0.295
0.306
2-ND
ZNF669-
-
-
-
3GainND
ZNF670-
-
-
-
3GainND
ZNF670-ZNF695-
-
-
-
3GainND
ZNF672-
-
-
-
3GainND
ZNF676p.E90K
Missense
SNP
0.529
2-ND
ZNF678-
-
-
-
3GainND
ZNF679p.H346Y
Missense
SNP
0.309
3GainND
ZNF680-
-
-
-
3GainND
ZNF682p.H419Y
Missense
SNP
0.493
2-ND
ZNF683-
-
-
-
3GainND
ZNF69p.H176Y
Missense
SNP
0.491
2-ND
ZNF692-
-
-
-
3GainND
ZNF695-
-
-
-
3GainND
ZNF70-
-
-
-
3GainND
ZNF708p.H302Y
Missense
SNP
0.233
2-ND
ZNF710-
-
-
-
3GainND
ZNF713-
-
-
-
3GainND
ZNF716-
-
-
-
3GainND
ZNF727p.K165I
Missense
SNP
0.335
3GainND
ZNF728p.K128*
Nonsense
SNP
0.517
2-ND
ZNF735p.A177T
Missense
SNP
0.339
3GainND
ZNF736-
-
-
-
3GainND
ZNF74-
-
-
-
3GainND
ZNF746-
-
-
-
3GainND
ZNF77p.P163S
Missense
SNP
0.262
2-ND
ZNF774-
-
-
-
3GainND
ZNF775-
-
-
-
3GainND
ZNF777-
-
-
-
3GainND
ZNF778-
-
-
-
1LossND
ZNF783-
-
-
-
3GainND
ZNF786-
-
-
-
3GainND
ZNF789-
-
-
-
3GainND
ZNF800-
-
-
-
3GainND
ZNF804Ap.D333N
Missense
SNP
0.421
2-ND
ZNF804B-
-
-
-
3GainND
ZNF812Pp.S263F
Missense
SNP
0.261
NDNDND
ZNF816p.H307Y
Missense
SNP
0.205
2-ND
ZNF821-
-
-
-
1LossND
ZNF827-
-
-
-
3GainND
ZNF831p.E878K
Missense
SNP
0.263
2-ND
ZNF84p.S665F
Missense
SNP
0.214
2-ND
ZNF843p.W73*
Nonsense
SNP
0.299
2-ND
ZNF845p.H657Y
Missense
SNP
0.459
2-ND
ZNF853-
-
-
-
3GainND
ZNF862-
-
-
-
3GainND
ZNF91p.E991K
p.S169L
Missense
Missense
SNP
SNP
0.475
0.330
2-ND
ZNF92-
-
-
-
3GainND
ZNF93p.P256L
Missense
SNP
0.223
2-ND
ZNF99p.E484K
Missense
SNP
0.469
2-ND
ZNHIT1-
-
-
-
3GainND
ZNRF1-
-
-
-
1LossND
ZNRF2-
-
-
-
3GainND
ZNRF3-
-
-
-
3GainND
ZNRF4p.ME134IK
Missense
DNP
0.294
2-ND
ZP3-
-
-
-
3GainND
ZP4-
-
-
-
3GainND
ZPBP-
-
-
-
3GainND
ZSCAN10p.R560C
Missense
SNP
0.601
2-ND
ZSCAN18p.S309F
Missense
SNP
0.222
2-ND
ZSCAN2-
-
-
-
3GainND
ZSCAN20-
-
-
-
3GainND
ZSCAN21-
-
-
-
3GainND
ZSCAN25-
-
-
-
3GainND
ZSCAN31p.E144K
Missense
SNP
0.669
2-ND
ZWILCH-
-
-
-
3GainND
ZWINT-
-
-
-
1LossND
ZYG11Ap.E31K
Missense
SNP
0.264
2-ND
ZZEF1p.P2771S
Missense
SNP
0.636
2-ND