PDMR-292921~168-R~WS1V43-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3GainND
A2ML1-
-
-
-
3GainND
AAAS-
-
-
-
3GainND
AACS-
-
-
-
3GainND
AATKp.G1135A
Missense
SNP
0.603
2-ND
ABCA1p.A465V
Missense
SNP
0.538
2-ND
ABCA13p.Q2194K
Missense
SNP
0.472
2-ND
ABCA7p.A1012T
p.P1360L
Missense
Missense
SNP
SNP
0.577
0.457
2-ND
ABCB9-
-
-
-
3GainND
ABCC1p.G683R
Missense
SNP
0.455
2-ND
ABCC9-
-
-
-
3GainND
ABCD2-
-
-
-
3GainND
ABCG5-
-
-
-
1LossND
ABCG8-
-
-
-
1LossND
ABHD3-
-
-
-
3GainND
ABLIM3-
-
-
-
3GainND
AC002996.1-
-
-
-
3GainND
AC005832.4-
-
-
-
3GainND
AC005833.1-
-
-
-
3GainND
AC006064.6-
-
-
-
3GainND
AC006518.7-
-
-
-
3GainND
AC007998.2-
-
-
-
3GainND
AC008012.1-
-
-
-
3GainND
AC008575.1-
-
-
-
3GainND
AC008581.2-
-
-
-
3GainND
AC008676.3-
-
-
-
3GainND
AC008695.1-
-
-
-
3GainND
AC010197.2-
-
-
-
3GainND
AC010255.3-
-
-
-
3GainND
AC010615.4-
-
-
-
1LossND
AC011330.3-
-
-
-
1LossND
AC011604.2-
-
-
-
3GainND
AC012254.2-
-
-
-
3GainND
AC012531.2-
-
-
-
3GainND
AC013717.1-
-
-
-
1LossND
AC022335.1-
-
-
-
3GainND
AC022414.1-
-
-
-
3GainND
AC023055.1-
-
-
-
3GainND
AC023509.3-
-
-
-
3GainND
AC025165.3-
-
-
-
3GainND
AC025263.2-
-
-
-
3GainND
AC026398.1-
-
-
-
3GainND
AC026786.1-
-
-
-
3GainND
AC034102.2-
-
-
-
3GainND
AC048338.1-
-
-
-
3GainND
AC068775.1-
-
-
-
3GainND
AC069503.2-
-
-
-
3GainND
AC073082.1-
-
-
-
1LossND
AC073283.3-
-
-
-
1LossND
AC073610.2-
-
-
-
3GainND
AC073610.3-
-
-
-
3GainND
AC073612.1-
-
-
-
3GainND
AC073896.1-
-
-
-
3GainND
AC078927.1-
-
-
-
3GainND
AC090227.1-
-
-
-
3GainND
AC090360.1-
-
-
-
3GainND
AC091551.1-
-
-
-
3GainND
AC091959.3-
-
-
-
3GainND
AC092111.3-
-
-
-
3GainND
AC092329.3-
-
-
-
1LossND
AC097104.1-
-
-
-
3GainND
AC104109.3-
-
-
-
3GainND
AC113348.2-
-
-
-
3GainND
AC116366.3-
-
-
-
3GainND
AC117378.1-
-
-
-
3GainND
AC134980.3-
-
-
-
5AmpND
AC135068.1-
-
-
-
5AmpND
AC135068.3-
-
-
-
5AmpND
AC137834.1-
-
-
-
3GainND
AC139491.7-
-
-
-
3GainND
AC142391.1-
-
-
-
3GainND
AC244517.10-
-
-
-
3GainND
ACAA2-
-
-
-
3GainND
ACACB-
-
-
-
3GainND
ACAD10-
-
-
-
3GainND
ACADS-
-
-
-
3GainND
ACOT12-
-
-
-
3GainND
ACRBP-
-
-
-
3GainND
ACSL6-
-
-
-
3GainND
ACSM4-
-
-
-
3GainND
ACSS3-
-
-
-
3GainND
ACTBL2-
-
-
-
3GainND
ACTR6-
-
-
-
3GainND
ACVR1B-
-
-
-
3GainND
ACVRL1-
-
-
-
3GainND
ADAM19-
-
-
-
3GainND
ADAMTS12-
-
-
-
3GainND
ADAMTS16p.R941L
Missense
SNP
0.209
3GainND
ADAMTS19-
-
-
-
3GainND
ADAMTS2-
-
-
-
3GainND
ADAMTS20-
-
-
-
3GainND
ADAMTS6-
-
-
-
3GainND
ADCY2-
-
-
-
3GainND
ADCY6-
-
-
-
3GainND
ADCYAP1-
-
-
-
3GainND
ADGRB3p.R274K
Missense
SNP
0.532
2-ND
ADGRD1-
-
-
-
3GainND
ADGRV1-
-
-
-
3GainND
ADIPOR1p.V270M
Missense
SNP
0.435
2-ND
ADIPOR2-
-
-
-
3GainND
ADNP2-
-
-
-
3GainND
ADRA1B-
-
-
-
3GainND
ADRB2-
-
-
-
3GainND
AEBP2-
-
-
-
3GainND
AFAP1L1-
-
-
-
3GainND
AFF4p.R1146H
Missense
SNP
0.609
3GainND
AFG3L2-
-
-
-
3GainND
AGAP2-
-
-
-
3GainND
AGBL1p.G227D
Missense
SNP
0.536
2-ND
AGGF1-
-
-
-
3GainND
AGXT2-
-
-
-
3GainND
AHRR-
-
-
-
3GainND
AICDA-
-
-
-
3GainND
AK6-
-
-
-
3GainND
AKAIN1-
-
-
-
3GainND
AKAP3-
-
-
-
3GainND
AL021546.1-
-
-
-
3GainND
ALDH16A1p.V287I
Missense
SNP
0.607
2-ND
ALDH1L2-
-
-
-
3GainND
ALDH2-
-
-
-
3GainND
ALDH7A1-
-
-
-
3GainND
ALG10-
-
-
-
3GainND
ALG10B-
-
-
-
3GainND
ALKBH2-
-
-
-
3GainND
ALPK2-
-
-
-
3GainND
ALX1-
-
-
-
3GainND
AMACR-
-
-
-
3GainND
AMDHD1-
-
-
-
3GainND
AMER2p.P562L
Missense
SNP
0.495
2-ND
AMHR2-
-
-
-
3GainND
AMIGO2-
-
-
-
3GainND
AMN1-
-
-
-
3GainND
AMY2A-
-
-
-
3GainND
AMY2B-
-
-
-
3GainND
ANAPC5-
-
-
-
3GainND
ANAPC7-
-
-
-
3GainND
ANHX-
-
-
-
3GainND
ANKDD1B-
-
-
-
3GainND
ANKH-
-
-
-
3GainND
ANKHD1-
-
-
-
3GainND
ANKHD1-EIF4EBP3-
-
-
-
3GainND
ANKLE2-
-
-
-
3GainND
ANKRA2-
-
-
-
3GainND
ANKRD12-
-
-
-
3GainND
ANKRD13A-
-
-
-
3GainND
ANKRD13Cp.H435R
Missense
SNP
0.498
2-ND
ANKRD18Ap.K769N
Missense
SNP
0.473
2-ND
ANKRD29-
-
-
-
3GainND
ANKRD30B-
-
-
-
3GainND
ANKRD31-
-
-
-
3GainND
ANKRD33-
-
-
-
3GainND
ANKRD33B-
-
-
-
3GainND
ANKRD34B-
-
-
-
3GainND
ANKRD52-
-
-
-
3GainND
ANKRD55-
-
-
-
3GainND
ANKRD62-
-
-
-
3GainND
ANKS1B-
-
-
-
3GainND
ANO2-
-
-
-
3GainND
ANO4-
-
-
-
3GainND
ANO6-
-
-
-
3GainND
ANP32D-
-
-
-
3GainND
ANTXR2p.G387R
Missense
SNP
0.474
2-ND
ANXA2R-
-
-
-
3GainND
ANXA6-
-
-
-
3GainND
AP3B1-
-
-
-
3GainND
AP3S1-
-
-
-
3GainND
APAF1-
-
-
-
3GainND
APBB3-
-
-
-
3GainND
APC-
-
-
-
3GainND
APCDD1-
-
-
-
3GainND
APCSp.W204*
Nonsense
SNP
0.549
2-ND
APOBEC1-
-
-
-
3GainND
APOF-
-
-
-
3GainND
APOLD1-
-
-
-
3GainND
APPL2-
-
-
-
3GainND
AQP2-
-
-
-
3GainND
AQP4-
-
-
-
3GainND
AQP5-
-
-
-
3GainND
AQP6-
-
-
-
3GainND
ARAP3-
-
-
-
3GainND
ARF3-
-
-
-
3GainND
ARHGAP26-
-
-
-
3GainND
ARHGAP28-
-
-
-
3GainND
ARHGAP9-
-
-
-
3GainND
ARHGDIB-
-
-
-
3GainND
ARHGEF25-
-
-
-
3GainND
ARHGEF28-
-
-
-
3GainND
ARHGEF37-
-
-
-
3GainND
ARID1Ap.R1461*
Nonsense
SNP
0.473
2-ND
ARID2-
-
-
-
3GainND
ARL1-
-
-
-
3GainND
ARL10-
-
-
-
3GainND
ARL13Bp.C158Y
Missense
SNP
0.519
2-ND
ARL14EPL-
-
-
-
3GainND
ARL15-
-
-
-
3GainND
ARL17A-
-
-
-
1LossND
ARL17B-
-
-
-
1LossND
ARL6IP4-
-
-
-
3GainND
ARMC3p.R449C
Missense
SNP
0.517
2-ND
ARNTL2-
-
-
-
3GainND
ARPC3-
-
-
-
3GainND
ARRDC3-
-
-
-
3GainND
ARSB-
-
-
-
3GainND
ARSI-
-
-
-
3GainND
ARSK-
-
-
-
3GainND
ART4-
-
-
-
3GainND
ASB3-
-
-
-
1LossND
ASB8-
-
-
-
3GainND
ASCL1-
-
-
-
3GainND
ASCL4-
-
-
-
3GainND
ASIC1-
-
-
-
3GainND
ASXL3-
-
-
-
3GainND
ATF1-
-
-
-
3GainND
ATF7-
-
-
-
3GainND
ATF7IP-
-
-
-
3GainND
ATG10-
-
-
-
3GainND
ATG101-
-
-
-
3GainND
ATG12-
-
-
-
3GainND
ATN1-
-
-
-
3GainND
ATOX1-
-
-
-
3GainND
ATP10B-
-
-
-
3GainND
ATP23-
-
-
-
3GainND
ATP2A2-
-
-
-
3GainND
ATP2B1-
-
-
-
3GainND
ATP2B2p.G668V
Missense
SNP
0.513
2-ND
ATP5F1A-
-
-
-
3GainND
ATP5F1B-
-
-
-
3GainND
ATP5MC2-
-
-
-
3GainND
ATP6AP1L-
-
-
-
3GainND
ATP6V0A2-
-
-
-
3GainND
ATP6V0E1-
-
-
-
3GainND
ATP6V1E2-
-
-
-
1LossND
ATP8B1-
-
-
-
3GainND
ATP9Ap.A1008T
Missense
SNP
0.496
2-ND
ATP9B-
-
-
-
3GainND
ATXN2-
-
-
-
3GainND
ATXN7L3B-
-
-
-
3GainND
AVIL-
-
-
-
3GainND
AVPR1A-
-
-
-
3GainND
AXDND1p.R318H
Missense
SNP
0.496
2-ND
B3GALT6p.R162W
Missense
SNP
0.466
2-ND
B3GNT4-
-
-
-
3GainND
B4GALNT1-
-
-
-
3GainND
B4GALNT3-
-
-
-
3GainND
B4GALT6-
-
-
-
3GainND
B4GALT7-
-
-
-
3GainND
BASP1-
-
-
-
3GainND
BAZ2A-
-
-
-
3GainND
BBS10-
-
-
-
3GainND
BCAS4p.R197H
Missense
SNP
0.551
2-ND
BCAT1-
-
-
-
3GainND
BCDIN3D-
-
-
-
3GainND
BCL2-
-
-
-
3GainND
BCL2L14-
-
-
-
3GainND
BCL7A-
-
-
-
3GainND
BDP1-
-
-
-
3GainND
BEST3p.R126M
Missense
SNP
0.368
3GainND
BHLHE41-
-
-
-
3GainND
BHMT-
-
-
-
3GainND
BHMT2-
-
-
-
3GainND
BICC1p.L517I
Missense
SNP
0.444
2-ND
BICD1-
-
-
-
3GainND
BICDL1-
-
-
-
3GainND
BIN2-
-
-
-
3GainND
BLOC1S1-
-
-
-
3GainND
BLOC1S1-RDH5-
-
-
-
3GainND
BNC1p.R973Q
Missense
SNP
0.525
2-ND
BNIP1-
-
-
-
3GainND
BOD1-
-
-
-
3GainND
BOD1L2-
-
-
-
3GainND
BORCS5-
-
-
-
3GainND
BPIp.A114T
Missense
SNP
0.537
2-ND
BPIFB3p.P375S
Missense
SNP
0.445
2-ND
BRAP-
-
-
-
3GainND
BRCA2p.R3384*
Nonsense
SNP
0.523
2-ND
BRD8-
-
-
-
3GainND
BRD9-
-
-
-
3GainND
BRI3BP-
-
-
-
3GainND
BRIX1-
-
-
-
3GainND
BTBD11-
-
-
-
3GainND
BTF3-
-
-
-
3GainND
BTG1-
-
-
-
3GainND
BTNL3-
-
-
-
3GainND
BTNL8-
-
-
-
3GainND
BTNL9-
-
-
-
3GainND
C10orf90p.A138V
Missense
SNP
0.432
2-ND
C11orf95p.R619C
Missense
SNP
0.486
2-ND
C12orf10-
-
-
-
3GainND
C12orf29-
-
-
-
3GainND
C12orf4-
-
-
-
3GainND
C12orf40-
-
-
-
3GainND
C12orf42-
-
-
-
3GainND
C12orf43-
-
-
-
3GainND
C12orf45-
-
-
-
3GainND
C12orf49-
-
-
-
3GainND
C12orf50-
-
-
-
3GainND
C12orf54-
-
-
-
3GainND
C12orf56-
-
-
-
3GainND
C12orf57-
-
-
-
3GainND
C12orf60-
-
-
-
3GainND
C12orf65-
-
-
-
3GainND
C12orf66-
-
-
-
3GainND
C12orf71-
-
-
-
3GainND
C12orf73-
-
-
-
3GainND
C12orf75-
-
-
-
3GainND
C12orf76-
-
-
-
3GainND
C18orf21-
-
-
-
3GainND
C18orf25-
-
-
-
3GainND
C18orf32-
-
-
-
3GainND
C18orf54-
-
-
-
3GainND
C18orf63-
-
-
-
3GainND
C1GALT1C1L-
-
-
-
1LossND
C1QL4-
-
-
-
3GainND
C1QTNF2-
-
-
-
3GainND
C1QTNF3-
-
-
-
3GainND
C1QTNF3-AMACR-
-
-
-
3GainND
C1R-
-
-
-
3GainND
C1RL-
-
-
-
3GainND
C1S-
-
-
-
3GainND
C2CD5p.V802D
Missense
SNP
0.345
3GainND
C3AR1-
-
-
-
3GainND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C5orf15-
-
-
-
3GainND
C5orf22-
-
-
-
3GainND
C5orf24-
-
-
-
3GainND
C5orf30-
-
-
-
3GainND
C5orf34-
-
-
-
3GainND
C5orf38-
-
-
-
3GainND
C5orf46-
-
-
-
3GainND
C5orf47-
-
-
-
3GainND
C5orf49-
-
-
-
3GainND
C5orf51-
-
-
-
3GainND
C5orf52-
-
-
-
3GainND
C5orf58-
-
-
-
3GainND
C5orf60-
-
-
-
3GainND
C5orf63-
-
-
-
3GainND
C5orf67-
-
-
-
3GainND
C6-
-
-
-
3GainND
C7-
-
-
-
3GainND
C7orf26p.N382S
Missense
SNP
0.491
2-ND
C9-
-
-
-
3GainND
C9orf131p.Q503*
Nonsense
SNP
0.524
2-ND
CABLES1-
-
-
-
3GainND
CABP1-
-
-
-
3GainND
CABYR-
-
-
-
3GainND
CACNA1C-
-
-
-
3GainND
CACNA1Hp.Y344C
Missense
SNP
0.411
2-ND
CACNA2D4-
-
-
-
3GainND
CACNB3-
-
-
-
3GainND
CALCOCO1-
-
-
-
3GainND
CALM2-
-
-
-
1LossND
CAMK2A-
-
-
-
3GainND
CAMK4-
-
-
-
3GainND
CAMKK2-
-
-
-
3GainND
CAMKMT-
-
-
-
1LossND
CAMLG-
-
-
-
3GainND
CAMTA1p.A810V
Missense
SNP
0.533
2-ND
CAND1-
-
-
-
3GainND
CANX-
-
-
-
3GainND
CAPN12p.R94H
Missense
SNP
0.500
2-ND
CAPRIN2-
-
-
-
3GainND
CAPS2-
-
-
-
3GainND
CAPSL-
-
-
-
3GainND
CAPZA3-
-
-
-
3GainND
CARD6-
-
-
-
3GainND
CARTPT-
-
-
-
3GainND
CASC1-
-
-
-
3GainND
CASRp.G440V
p.T898M
Missense
Missense
SNP
SNP
0.506
0.477
2-ND
CAST-
-
-
-
3GainND
CATSPER2-
-
-
-
1LossND
CATSPER3-
-
-
-
3GainND
CBLCp.V247A
Missense
SNP
0.489
2-ND
CBLN2-
-
-
-
3GainND
CBX5-
-
-
-
3GainND
CBY3-
-
-
-
3GainND
CCBE1-
-
-
-
3GainND
CCDC102B-
-
-
-
3GainND
CCDC112-
-
-
-
3GainND
CCDC125-
-
-
-
3GainND
CCDC127-
-
-
-
3GainND
CCDC152-
-
-
-
3GainND
CCDC178-
-
-
-
3GainND
CCDC184-
-
-
-
3GainND
CCDC38-
-
-
-
3GainND
CCDC59-
-
-
-
3GainND
CCDC60-
-
-
-
3GainND
CCDC62-
-
-
-
3GainND
CCDC63-
-
-
-
3GainND
CCDC65-
-
-
-
3GainND
CCDC68-
-
-
-
3GainND
CCDC69-
-
-
-
3GainND
CCDC77-
-
-
-
3GainND
CCDC91-
-
-
-
3GainND
CCDC92-
-
-
-
3GainND
CCER1-
-
-
-
3GainND
CCL28-
-
-
-
3GainND
CCNB1-
-
-
-
3GainND
CCND2-
-
-
-
3GainND
CCNG1-
-
-
-
3GainND
CCNH-
-
-
-
3GainND
CCNI2-
-
-
-
3GainND
CCNJL-
-
-
-
3GainND
CCNL2p.R434H
Missense
SNP
0.458
2-ND
CCNO-
-
-
-
3GainND
CCNT1-
-
-
-
3GainND
CCNT2p.S582G
Missense
SNP
0.506
2-ND
CCT2-
-
-
-
3GainND
CCT5-
-
-
-
3GainND
CD14-
-
-
-
3GainND
CD163-
-
-
-
3GainND
CD163L1-
-
-
-
3GainND
CD180-
-
-
-
3GainND
CD1Ap.R279Q
Missense
SNP
0.425
2-ND
CD226-
-
-
-
3GainND
CD27-
-
-
-
3GainND
CD4-
-
-
-
3GainND
CD63-
-
-
-
3GainND
CD69-
-
-
-
3GainND
CD74-
-
-
-
3GainND
CD9-
-
-
-
3GainND
CDC20B-
-
-
-
3GainND
CDC23-
-
-
-
3GainND
CDC25C-
-
-
-
3GainND
CDC42SE2-
-
-
-
3GainND
CDCA3-
-
-
-
3GainND
CDH10-
-
-
-
3GainND
CDH12-
-
-
-
3GainND
CDH18-
-
-
-
3GainND
CDH19-
-
-
-
3GainND
CDH2-
-
-
-
3GainND
CDH20-
-
-
-
3GainND
CDH6-
-
-
-
3GainND
CDH7-
-
-
-
3GainND
CDH9-
-
-
-
3GainND
CDHR2-
-
-
-
3GainND
CDK17-
-
-
-
3GainND
CDK2-
-
-
-
3GainND
CDK2AP1-
-
-
-
3GainND
CDK4-
-
-
-
3GainND
CDK7-
-
-
-
3GainND
CDKL3-
-
-
-
3GainND
CDKN1B-
-
-
-
3GainND
CDKN2AIPNL-
-
-
-
3GainND
CDO1-
-
-
-
3GainND
CDX1-
-
-
-
3GainND
CELA1-
-
-
-
3GainND
CELF4-
-
-
-
3GainND
CENPCp.S778L
Missense
SNP
0.416
2-ND
CENPFp.R2702W
Missense
SNP
0.505
2-ND
CENPH-
-
-
-
3GainND
CENPK-
-
-
-
3GainND
CEP120-
-
-
-
3GainND
CEP192-
-
-
-
3GainND
CEP290-
-
-
-
3GainND
CEP72-
-
-
-
3GainND
CEP76-
-
-
-
3GainND
CEP83-
-
-
-
3GainND
CERS5-
-
-
-
3GainND
CETN1-
-
-
-
3GainND
CETN3p.R125C
Missense
SNP
0.659
3GainND
CFAP53-
-
-
-
3GainND
CFAP54-
-
-
-
3GainND
CFAP73-
-
-
-
3GainND
CHAC2-
-
-
-
1LossND
CHD1-
-
-
-
3GainND
CHD4-
-
-
-
3GainND
CHD5p.V220I
Missense
SNP
0.500
2-ND
CHD7p.A2663V
Missense
SNP
0.438
2-ND
CHFR-
-
-
-
3GainND
CHMP1B-
-
-
-
3GainND
CHPFp.D424N
Missense
SNP
0.487
2-ND
CHPT1-
-
-
-
3GainND
CHRNB4p.R415L
Missense
SNP
0.426
2-ND
CHST11-
-
-
-
3GainND
CHST9-
-
-
-
3GainND
CHSY1p.Y594H
Missense
SNP
0.462
2-ND
CHSY3-
-
-
-
3GainND
CIDEA-
-
-
-
3GainND
CIT-
-
-
-
3GainND
CKAP4-
-
-
-
3GainND
CKMT1A-
-
-
-
1LossND
CKMT1B-
-
-
-
1LossND
CKMT2-
-
-
-
3GainND
CLEC12A-
-
-
-
3GainND
CLEC12B-
-
-
-
3GainND
CLEC1A-
-
-
-
3GainND
CLEC1B-
-
-
-
3GainND
CLEC2A-
-
-
-
3GainND
CLEC2B-
-
-
-
3GainND
CLEC2D-
-
-
-
3GainND
CLEC3Bp.A150T
p.A153T
Missense
Missense
SNP
SNP
0.496
0.505
2-ND
CLEC4A-
-
-
-
3GainND
CLEC4C-
-
-
-
3GainND
CLEC4D-
-
-
-
3GainND
CLEC4E-
-
-
-
3GainND
CLEC6A-
-
-
-
3GainND
CLEC7A-
-
-
-
3GainND
CLEC9A-
-
-
-
3GainND
CLECL1-
-
-
-
3GainND
CLINT1-
-
-
-
3GainND
CLIP1-
-
-
-
3GainND
CLK4-
-
-
-
3GainND
CLLU1OS-
-
-
-
3GainND
CLPTM1L-
-
-
-
3GainND
CLSTN3-
-
-
-
3GainND
CLTB-
-
-
-
3GainND
CLUL1-
-
-
-
3GainND
CMAS-
-
-
-
3GainND
CMBL-
-
-
-
3GainND
CMKLR1-
-
-
-
3GainND
CMYA5-
-
-
-
3GainND
CNDP1-
-
-
-
3GainND
CNDP2-
-
-
-
3GainND
CNOT2-
-
-
-
3GainND
CNOT6-
-
-
-
3GainND
CNOT8-
-
-
-
3GainND
CNPY2-
-
-
-
3GainND
CNTN1-
-
-
-
3GainND
CNTN4p.G473V
p.I864N
Missense
Missense
SNP
SNP
0.436
0.507
2-ND
COL11A1-
-
-
-
3GainND
COL23A1-
-
-
-
3GainND
COL2A1p.V695M
Missense
SNP
0.299
3GainND
COL4A3BP-
-
-
-
3GainND
COLEC12-
-
-
-
3GainND
COMMD10-
-
-
-
3GainND
COPS7A-
-
-
-
3GainND
COPZ1-
-
-
-
3GainND
COQ10A-
-
-
-
3GainND
COQ5-
-
-
-
3GainND
CORO1C-
-
-
-
3GainND
COX14-
-
-
-
3GainND
COX6A1-
-
-
-
3GainND
COX7C-
-
-
-
3GainND
CPEB4-
-
-
-
3GainND
CPLANE1-
-
-
-
3GainND
CPLX2-
-
-
-
3GainND
CPLX4-
-
-
-
3GainND
CPM-
-
-
-
3GainND
CPNE8-
-
-
-
3GainND
CPSF6-
-
-
-
3GainND
CRACR2A-
-
-
-
3GainND
CRADD-
-
-
-
3GainND
CREBL2-
-
-
-
3GainND
CREBRF-
-
-
-
3GainND
CRHBP-
-
-
-
3GainND
CRIPT-
-
-
-
1LossND
CRY1-
-
-
-
3GainND
CRYZL1p.K344R
Missense
SNP
0.543
2-ND
CS-
-
-
-
3GainND
CSAD-
-
-
-
3GainND
CSF1R-
-
-
-
3GainND
CSF2-
-
-
-
3GainND
CSNK1A1-
-
-
-
3GainND
CSNK1G3-
-
-
-
3GainND
CSRNP2-
-
-
-
3GainND
CSRP2-
-
-
-
3GainND
CTAG2p.R52S
Missense
SNP
0.989
NDNDND
CTAGE1-
-
-
-
3GainND
CTDP1-
-
-
-
3GainND
CTDSP2-
-
-
-
3GainND
CTIF-
-
-
-
3GainND
CTNNA1-
-
-
-
3GainND
CTNND1p.R354H
Missense
SNP
0.521
2-ND
CTNND2-
-
-
-
3GainND
CTSAp.S288F
Missense
SNP
0.514
2-ND
CTXN3-
-
-
-
3GainND
CUX2-
-
-
-
3GainND
CWC27-
-
-
-
3GainND
CXCL14-
-
-
-
3GainND
CXCR1p.L226M
Missense
SNP
0.244
2-ND
CXXC1-
-
-
-
3GainND
CXXC5-
-
-
-
3GainND
CYB5A-
-
-
-
3GainND
CYFIP2-
-
-
-
3GainND
CYP21A2-
-
-
-
1LossND
CYP27B1-
-
-
-
3GainND
CYP2S1p.R362L
Missense
SNP
0.406
2-ND
CYP7A1p.A50V
Missense
SNP
0.469
2-ND
CYSTM1-
-
-
-
3GainND
DAB2-
-
-
-
3GainND
DAO-
-
-
-
3GainND
DAP-
-
-
-
3GainND
DAZAP2-
-
-
-
3GainND
DBN1-
-
-
-
3GainND
DBX2-
-
-
-
3GainND
DCANP1-
-
-
-
3GainND
DCC-
-
-
-
3GainND
DCD-
-
-
-
3GainND
DCN-
-
-
-
3GainND
DCP1B-
-
-
-
3GainND
DCP2-
-
-
-
3GainND
DCTN2-
-
-
-
3GainND
DCTN4-
-
-
-
3GainND
DCXp.T169M
Missense
SNP
1.000
NDNDND
DDHD1p.M488I
Missense
SNP
0.465
2-ND
DDIT3-
-
-
-
3GainND
DDN-
-
-
-
3GainND
DDX11-
-
-
-
3GainND
DDX23-
-
-
-
3GainND
DDX4-
-
-
-
3GainND
DDX41-
-
-
-
3GainND
DDX43p.R539I
Missense
SNP
0.475
2-ND
DDX46-
-
-
-
3GainND
DDX47-
-
-
-
3GainND
DDX51-
-
-
-
3GainND
DDX54-
-
-
-
3GainND
DDX55-
-
-
-
3GainND
DELE1-
-
-
-
3GainND
DENND5B-
-
-
-
3GainND
DENR-
-
-
-
3GainND
DEPDC1B-
-
-
-
3GainND
DEPDC4-
-
-
-
3GainND
DERA-
-
-
-
3GainND
DGKA-
-
-
-
3GainND
DHFR-
-
-
-
3GainND
DHH-
-
-
-
3GainND
DHX29-
-
-
-
3GainND
DHX34p.R1000W
Missense
SNP
0.485
2-ND
DHX37-
-
-
-
3GainND
DIABLO-
-
-
-
3GainND
DIAPH1-
-
-
-
3GainND
DIMT1-
-
-
-
3GainND
DIP2B-
-
-
-
3GainND
DLGAP1-
-
-
-
3GainND
DLGAP3p.D250Y
Missense
SNP
0.567
2-ND
DMGDH-
-
-
-
3GainND
DMRT3p.G211R
Missense
SNP
0.525
2-ND
DMXL1-
-
-
-
3GainND
DNAH10-
-
-
-
3GainND
DNAH5-
-
-
-
3GainND
DNAJC14-
-
-
-
3GainND
DNAJC18-
-
-
-
3GainND
DNAJC21-
-
-
-
3GainND
DNAJC22-
-
-
-
3GainND
DND1-
-
-
-
3GainND
DNM1L-
-
-
-
3GainND
DOCK2-
-
-
-
3GainND
DOCK3p.R506H
Missense
SNP
0.553
2-ND
DOK3-
-
-
-
3GainND
DOK6-
-
-
-
3GainND
DPPA3-
-
-
-
3GainND
DPY19L2-
-
-
-
3GainND
DPYSL3-
-
-
-
3GainND
DRAM1-
-
-
-
3GainND
DRD1-
-
-
-
3GainND
DRICH1p.E198D
Missense
SNP
0.530
2-ND
DROSHA-
-
-
-
3GainND
DSC1-
-
-
-
3GainND
DSC2-
-
-
-
3GainND
DSC3-
-
-
-
3GainND
DSCAML1p.R559*
Nonsense
SNP
0.515
2-ND
DSEL-
-
-
-
3GainND
DSG1-
-
-
-
3GainND
DSG2-
-
-
-
3GainND
DSG3-
-
-
-
3GainND
DSG4-
-
-
-
3GainND
DTNA-
-
-
-
3GainND
DTWD2-
-
-
-
3GainND
DTX1-
-
-
-
3GainND
DTX3-
-
-
-
3GainND
DUS1Lp.R356W
Missense
SNP
0.522
2-ND
DUSP1-
-
-
-
3GainND
DUSP16-
-
-
-
3GainND
DUSP6-
-
-
-
3GainND
DYM-
-
-
-
3GainND
DYNAP-
-
-
-
3GainND
DYNC2LI1-
-
-
-
1LossND
DYNLL1-
-
-
-
3GainND
DYRK2-
-
-
-
3GainND
DYRK4-
-
-
-
3GainND
E2F7-
-
-
-
3GainND
EBF1-
-
-
-
3GainND
ECE2p.R304H
Missense
SNP
0.547
2-ND
ECSCR-
-
-
-
3GainND
EDIL3-
-
-
-
3GainND
EEA1-
-
-
-
3GainND
EEF1AKMT3-
-
-
-
3GainND
EFCAB9-
-
-
-
3GainND
EFL1p.F225V
Missense
SNP
0.379
2-ND
EFNA5-
-
-
-
3GainND
EGFLAM-
-
-
-
3GainND
EGR1-
-
-
-
3GainND
EHD2p.A179T
Missense
SNP
0.492
2-ND
EID3-
-
-
-
3GainND
EIF2B1-
-
-
-
3GainND
EIF2S3B-
-
-
-
3GainND
EIF4B-
-
-
-
3GainND
EIF4E1B-
-
-
-
3GainND
EIF4EBP3-
-
-
-
3GainND
EIF4G3p.T1152M
Missense
SNP
0.454
2-ND
ELAC1-
-
-
-
3GainND
ELK3-
-
-
-
3GainND
ELL2-
-
-
-
3GainND
ELOA2-
-
-
-
3GainND
ELOVL7-
-
-
-
3GainND
ELP2-
-
-
-
3GainND
EMB-
-
-
-
3GainND
EMG1-
-
-
-
3GainND
EMILIN2-
-
-
-
3GainND
EML1p.V638I
Missense
SNP
0.367
2-ND
EMP1-
-
-
-
3GainND
ENC1-
-
-
-
3GainND
ENDOU-
-
-
-
3GainND
ENO2-
-
-
-
3GainND
ENOSF1-
-
-
-
3GainND
ENTPD1p.A371T
Missense
SNP
0.450
2-ND
EP400-
-
-
-
3GainND
EPAS1-
-
-
-
1LossND
EPB41L3-
-
-
-
3GainND
EPB41L4A-
-
-
-
3GainND
EPCAM-
-
-
-
1LossND
EPG5-
-
-
-
3GainND
EPS8-
-
-
-
3GainND
EPYC-
-
-
-
3GainND
ERAP1-
-
-
-
3GainND
ERAP2-
-
-
-
3GainND
ERBB3-
-
-
-
3GainND
ERBIN-
-
-
-
3GainND
ERC1-
-
-
-
3GainND
ERCC8-
-
-
-
3GainND
ERGIC1-
-
-
-
3GainND
ERGIC2-
-
-
-
3GainND
ERP27-
-
-
-
3GainND
ERP29-
-
-
-
3GainND
ESCO1-
-
-
-
3GainND
ESM1-
-
-
-
3GainND
ESPL1-
-
-
-
3GainND
ESPNp.R795W
Missense
SNP
0.535
2-ND
ESYT1-
-
-
-
3GainND
ETF1-
-
-
-
3GainND
ETFBKMT-
-
-
-
3GainND
ETFRF1-
-
-
-
3GainND
ETNK1-
-
-
-
3GainND
ETV6-
-
-
-
3GainND
EXOC3-
-
-
-
3GainND
F12-
-
-
-
3GainND
F2R-
-
-
-
3GainND
F2RL1-
-
-
-
3GainND
F2RL2-
-
-
-
3GainND
FABP6-
-
-
-
3GainND
FAF2-
-
-
-
3GainND
FAIM2-
-
-
-
3GainND
FAM104Bp.R111*
Nonsense
SNP
0.172
NDNDND
FAM114A2-
-
-
-
3GainND
FAM13B-
-
-
-
3GainND
FAM151B-
-
-
-
3GainND
FAM153A-
-
-
-
3GainND
FAM153B-
-
-
-
3GainND
FAM153C-
-
-
-
3GainND
FAM169A-
-
-
-
3GainND
FAM170A-
-
-
-
3GainND
FAM172A-
-
-
-
3GainND
FAM173B-
-
-
-
3GainND
FAM174A-
-
-
-
3GainND
FAM186A-
-
-
-
3GainND
FAM186B-
-
-
-
3GainND
FAM193B-
-
-
-
3GainND
FAM196Ap.A92T
Missense
SNP
0.473
NDNDND
FAM19A2-
-
-
-
3GainND
FAM210A-
-
-
-
3GainND
FAM216A-
-
-
-
3GainND
FAM222A-
-
-
-
3GainND
FAM234B-
-
-
-
3GainND
FAM53C-
-
-
-
3GainND
FAM69C-
-
-
-
3GainND
FAM71B-
-
-
-
3GainND
FAM71C-
-
-
-
3GainND
FAM81B-
-
-
-
3GainND
FAM86B1p.T255M
Missense
SNP
0.239
NDNDND
FAR2-
-
-
-
3GainND
FASTKD3-
-
-
-
3GainND
FAT2p.R736H
Missense
SNP
0.378
3GainND
FAXDC2-
-
-
-
3GainND
FBLL1-
-
-
-
3GainND
FBN2-
-
-
-
3GainND
FBRSL1-
-
-
-
3GainND
FBXL14-
-
-
-
3GainND
FBXL17-
-
-
-
3GainND
FBXL18p.R403H
Missense
SNP
0.489
2-ND
FBXL7-
-
-
-
3GainND
FBXO11-
-
-
-
1LossND
FBXO15-
-
-
-
3GainND
FBXO21-
-
-
-
3GainND
FBXO38-
-
-
-
3GainND
FBXO4-
-
-
-
3GainND
FBXW11-
-
-
-
3GainND
FBXW8-
-
-
-
3GainND
FCHO2-
-
-
-
3GainND
FCHSD1-
-
-
-
3GainND
FECH-
-
-
-
3GainND
FEM1C-
-
-
-
3GainND
FER-
-
-
-
3GainND
FGD4-
-
-
-
3GainND
FGD6-
-
-
-
3GainND
FGF1-
-
-
-
3GainND
FGF10-
-
-
-
3GainND
FGF18-
-
-
-
3GainND
FGF23-
-
-
-
3GainND
FGF6-
-
-
-
3GainND
FGFR1OP2-
-
-
-
3GainND
FGFR4-
-
-
-
3GainND
FHOD3-
-
-
-
3GainND
FICD-
-
-
-
3GainND
FIGNL2-
-
-
-
3GainND
FKBP11-
-
-
-
3GainND
FKBP4-
-
-
-
3GainND
FLRT2-
-
-
-
3GainND
FLT4-
-
-
-
3GainND
FMN2p.H801N
Missense
SNP
0.514
2-ND
FMNL3-
-
-
-
3GainND
FNDC9-
-
-
-
3GainND
FNIP1-
-
-
-
3GainND
FOXD1-
-
-
-
3GainND
FOXI1p.V153M
Missense
SNP
0.313
3GainND
FOXJ2-
-
-
-
3GainND
FOXM1-
-
-
-
3GainND
FOXN2-
-
-
-
1LossND
FOXN4-
-
-
-
3GainND
FRS2-
-
-
-
3GainND
FSHR-
-
-
-
1LossND
FST-
-
-
-
3GainND
FSTL4-
-
-
-
3GainND
FTMT-
-
-
-
3GainND
FYB1-
-
-
-
3GainND
FZD10-
-
-
-
3GainND
G3BP1-
-
-
-
3GainND
GABARAPL1-
-
-
-
3GainND
GABRA1-
-
-
-
3GainND
GABRA6-
-
-
-
3GainND
GABRB2-
-
-
-
3GainND
GABRG2-
-
-
-
3GainND
GABRP-
-
-
-
3GainND
GALNT1-
-
-
-
3GainND
GALNT10-
-
-
-
3GainND
GALNT14p.R177H
Missense
SNP
0.523
2-ND
GALNT6-
-
-
-
3GainND
GALNT8-
-
-
-
3GainND
GALNT9-
-
-
-
3GainND
GALR1-
-
-
-
3GainND
GAPDH-
-
-
-
3GainND
GAPT-
-
-
-
3GainND
GAREM1-
-
-
-
3GainND
GAS2L3-
-
-
-
3GainND
GATA6-
-
-
-
3GainND
GATC-
-
-
-
3GainND
GCN1-
-
-
-
3GainND
GCNT4-
-
-
-
3GainND
GDF11-
-
-
-
3GainND
GDF3-
-
-
-
3GainND
GDF9-
-
-
-
3GainND
GDNF-
-
-
-
3GainND
GEMIN5-
-
-
-
3GainND
GFM2-
-
-
-
3GainND
GFPT2-
-
-
-
3GainND
GFRA3-
-
-
-
3GainND
GHR-
-
-
-
3GainND
GIN1-
-
-
-
3GainND
GIT2-
-
-
-
3GainND
GLI1-
-
-
-
3GainND
GLIPR1-
-
-
-
3GainND
GLIPR1L1-
-
-
-
3GainND
GLIPR1L2-
-
-
-
3GainND
GLRA1-
-
-
-
3GainND
GLRX-
-
-
-
3GainND
GLS2-
-
-
-
3GainND
GLT1D1-
-
-
-
3GainND
GLT8D2-
-
-
-
3GainND
GLTP-
-
-
-
3GainND
GM2A-
-
-
-
3GainND
GMCL2-
-
-
-
3GainND
GNAL-
-
-
-
3GainND
GNB3-
-
-
-
3GainND
GNPDA1-
-
-
-
3GainND
GNPTABp.R674H
Missense
SNP
0.639
3GainND
GNS-
-
-
-
3GainND
GOLGA3-
-
-
-
3GainND
GOLPH3-
-
-
-
3GainND
GOLT1B-
-
-
-
3GainND
GPAMp.R108H
Missense
SNP
0.550
2-ND
GPATCH1p.A809T
Missense
SNP
0.638
2-ND
GPBP1-
-
-
-
3GainND
GPD1-
-
-
-
3GainND
GPN3-
-
-
-
3GainND
GPR150-
-
-
-
3GainND
GPR151-
-
-
-
3GainND
GPR162-
-
-
-
3GainND
GPR182-
-
-
-
3GainND
GPR19-
-
-
-
3GainND
GPR75-ASB3-
-
-
-
1LossND
GPR84-
-
-
-
3GainND
GPRC5A-
-
-
-
3GainND
GPRC5D-
-
-
-
3GainND
GPRIN1-
-
-
-
3GainND
GPX3-
-
-
-
3GainND
GPX8-
-
-
-
3GainND
GRAMD2B-
-
-
-
3GainND
GRASP-
-
-
-
3GainND
GREB1L-
-
-
-
3GainND
GRIA1-
-
-
-
3GainND
GRIK2p.R874W
Missense
SNP
0.538
2-ND
GRIN2Ap.T1064M
Missense
SNP
0.500
2-ND
GRIN2Bp.A1337T
Missense
SNP
0.313
3GainND
GRIP1-
-
-
-
3GainND
GRK6-
-
-
-
3GainND
GRM4p.R135H
Missense
SNP
0.506
2-ND
GRM6-
-
-
-
3GainND
GRM7p.R516*
Nonsense
SNP
0.494
2-ND
GRP-
-
-
-
3GainND
GRPEL2-
-
-
-
3GainND
GRXCR2-
-
-
-
3GainND
GSG1-
-
-
-
3GainND
GTF2A1L-
-
-
-
1LossND
GTF2H2-
-
-
-
3GainND
GTF2H2C-
-
-
-
3GainND
GTF2H3-
-
-
-
3GainND
GTSF1-
-
-
-
3GainND
GUCY2C-
-
-
-
3GainND
GXYLT1-
-
-
-
3GainND
GYS2p.R678L
Missense
SNP
0.252
3GainND
GZMA-
-
-
-
3GainND
GZMK-
-
-
-
3GainND
H1FNT-
-
-
-
3GainND
H2AFJ-
-
-
-
3GainND
H2AFY-
-
-
-
3GainND
H3F3C-
-
-
-
3GainND
HAL-
-
-
-
3GainND
HAND1-
-
-
-
3GainND
HAPLN1-
-
-
-
3GainND
HARS-
-
-
-
3GainND
HARS2-
-
-
-
3GainND
HAUS1-
-
-
-
3GainND
HAVCR1-
-
-
-
3GainND
HAVCR2-
-
-
-
3GainND
HBEGF-
-
-
-
3GainND
HCAR1-
-
-
-
3GainND
HCAR2-
-
-
-
3GainND
HCAR3-
-
-
-
3GainND
HCFC2-
-
-
-
3GainND
HCN1-
-
-
-
3GainND
HDAC3-
-
-
-
3GainND
HDAC7-
-
-
-
3GainND
HDGFL1p.D249N
Missense
SNP
0.444
2-ND
HDHD2-
-
-
-
3GainND
HEBP1-
-
-
-
3GainND
HECTD4-
-
-
-
3GainND
HELB-
-
-
-
3GainND
HEXB-
-
-
-
3GainND
HIGD1C-
-
-
-
3GainND
HIGD2A-
-
-
-
3GainND
HINT1-
-
-
-
3GainND
HIP1R-
-
-
-
3GainND
HIST4H4-
-
-
-
3GainND
HK3-
-
-
-
3GainND
HMGA2-
-
-
-
3GainND
HMGCR-
-
-
-
3GainND
HMGCS1-
-
-
-
3GainND
HMGXB3-
-
-
-
3GainND
HMHB1-
-
-
-
3GainND
HMMR-
-
-
-
3GainND
HMSD-
-
-
-
3GainND
HNF1A-
-
-
-
3GainND
HNRNPA0-
-
-
-
3GainND
HNRNPA1-
-
-
-
3GainND
HNRNPAB-
-
-
-
3GainND
HNRNPH1-
-
-
-
3GainND
HOMER1-
-
-
-
3GainND
HOXC10-
-
-
-
3GainND
HOXC11-
-
-
-
3GainND
HOXC12-
-
-
-
3GainND
HOXC13-
-
-
-
3GainND
HOXC4-
-
-
-
3GainND
HOXC5-
-
-
-
3GainND
HOXC6-
-
-
-
3GainND
HOXC8-
-
-
-
3GainND
HOXC9-
-
-
-
3GainND
HOXD4p.R182L
Missense
SNP
0.538
2-ND
HPD-
-
-
-
3GainND
HRH2-
-
-
-
3GainND
HRH4-
-
-
-
3GainND
HRK-
-
-
-
3GainND
HS3ST5p.R65C
Missense
SNP
0.529
2-ND
HSBP1L1-
-
-
-
3GainND
HSD17B4-
-
-
-
3GainND
HSD17B6-
-
-
-
3GainND
HSP90B1-
-
-
-
3GainND
HSPA4-
-
-
-
3GainND
HSPA9-
-
-
-
3GainND
HSPB3-
-
-
-
3GainND
HSPB8-
-
-
-
3GainND
HTR1A-
-
-
-
3GainND
HTR4-
-
-
-
3GainND
HVCN1-
-
-
-
3GainND
IAPP-
-
-
-
3GainND
ICE1-
-
-
-
3GainND
IER3IP1-
-
-
-
3GainND
IFFO1-
-
-
-
3GainND
IFNG-
-
-
-
3GainND
IFT81-
-
-
-
3GainND
IGF1-
-
-
-
3GainND
IGFBP6-
-
-
-
3GainND
IGIP-
-
-
-
3GainND
IK-
-
-
-
3GainND
IKBIP-
-
-
-
3GainND
IKZF4-
-
-
-
3GainND
IL12B-
-
-
-
3GainND
IL13-
-
-
-
3GainND
IL17B-
-
-
-
3GainND
IL22-
-
-
-
3GainND
IL23A-
-
-
-
3GainND
IL26-
-
-
-
3GainND
IL2RBp.A417T
Missense
SNP
0.293
2-ND
IL3-
-
-
-
3GainND
IL31-
-
-
-
3GainND
IL31RA-
-
-
-
3GainND
IL4-
-
-
-
3GainND
IL4I1p.R193H
Missense
SNP
0.529
2-ND
IL5-
-
-
-
3GainND
IL6ST-
-
-
-
3GainND
IL7R-
-
-
-
3GainND
IL9-
-
-
-
3GainND
IMPA2-
-
-
-
3GainND
IMPACT-
-
-
-
3GainND
ING4-
-
-
-
3GainND
INHBC-
-
-
-
3GainND
INHBE-
-
-
-
3GainND
INO80C-
-
-
-
3GainND
INPP5Bp.K479E
Missense
SNP
0.431
2-ND
INSRRp.A871V
Missense
SNP
0.456
2-ND
INSYN2B-
-
-
-
3GainND
INTS13-
-
-
-
3GainND
IP6K1p.R114Q
Missense
SNP
0.512
2-ND
IPO11-
-
-
-
3GainND
IPO8-
-
-
-
3GainND
IQCD-
-
-
-
3GainND
IQGAP2-
-
-
-
3GainND
IQSEC3-
-
-
-
3GainND
IRAK3-
-
-
-
3GainND
IRAK4p.R12C
Missense
SNP
0.364
3GainND
IRF1-
-
-
-
3GainND
IRGCp.V170M
Missense
SNP
0.503
2-ND
IRGM-
-
-
-
3GainND
IRS4p.R1084C
Missense
SNP
1.000
NDNDND
IRX1-
-
-
-
3GainND
IRX2-
-
-
-
3GainND
IRX4-
-
-
-
3GainND
ISCU-
-
-
-
3GainND
ISL1-
-
-
-
3GainND
ISOC1-
-
-
-
3GainND
ISYNA1p.A466V
Missense
SNP
0.442
2-ND
ITFG2-
-
-
-
3GainND
ITGA1-
-
-
-
3GainND
ITGA2-
-
-
-
3GainND
ITGA5-
-
-
-
3GainND
ITGA7-
-
-
-
3GainND
ITGB6p.R594H
Missense
SNP
0.106
2-ND
ITGB7-
-
-
-
3GainND
ITK-
-
-
-
3GainND
ITPR2-
-
-
-
3GainND
IZUMO2p.A69T
Missense
SNP
0.431
2-ND
JADE2-
-
-
-
3GainND
JAK3p.D846N
Missense
SNP
0.550
2-ND
JAKMIP2-
-
-
-
3GainND
JMY-
-
-
-
3GainND
JPH3p.R94C
Missense
SNP
0.460
2-ND
KANSL2-
-
-
-
3GainND
KATNAL2-
-
-
-
3GainND
KCNA1-
-
-
-
3GainND
KCNA4p.R68H
Missense
SNP
0.535
2-ND
KCNA5-
-
-
-
3GainND
KCNA6-
-
-
-
3GainND
KCNC2-
-
-
-
3GainND
KCNE5p.A108T
Missense
SNP
0.991
NDNDND
KCNG2-
-
-
-
3GainND
KCNH3-
-
-
-
3GainND
KCNIP1-
-
-
-
3GainND
KCNJ8-
-
-
-
3GainND
KCNK12-
-
-
-
1LossND
KCNMB1-
-
-
-
3GainND
KCNMB4-
-
-
-
3GainND
KCNN1p.E101K
Missense
SNP
0.483
2-ND
KCNN2-
-
-
-
3GainND
KCNT2p.E7K
Missense
SNP
0.325
2-ND
KCTD1-
-
-
-
3GainND
KCTD10-
-
-
-
3GainND
KCTD16-
-
-
-
3GainND
KCTD20p.R371*
Nonsense
SNP
0.504
2-ND
KDM2B-
-
-
-
3GainND
KDM3B-
-
-
-
3GainND
KDM5A-
-
-
-
3GainND
KDSR-
-
-
-
3GainND
KELp.P331T
Missense
SNP
0.487
NDNDND
KERA-
-
-
-
3GainND
KIAA0586p.P1101Q
Missense
SNP
0.407
2-ND
KIAA0825-
-
-
-
3GainND
KIAA1024L-
-
-
-
3GainND
KIAA1191-
-
-
-
3GainND
KIAA1328-
-
-
-
3GainND
KIAA1551-
-
-
-
3GainND
KIDINS220p.S1365F
Missense
SNP
0.491
2-ND
KIF13Bp.F790L
Missense
SNP
0.445
2-ND
KIF16Bp.R907H
Missense
SNP
0.445
2-ND
KIF20A-
-
-
-
3GainND
KIF21A-
-
-
-
3GainND
KIF2A-
-
-
-
3GainND
KIF3A-
-
-
-
3GainND
KIF4B-
-
-
-
3GainND
KIF5A-
-
-
-
3GainND
KIRREL2p.P312L
Missense
SNP
0.469
2-ND
KITLG-
-
-
-
3GainND
KLC3p.R17C
Missense
SNP
0.471
2-ND
KLHL14-
-
-
-
3GainND
KLHL3-
-
-
-
3GainND
KLHL42p.W281*
Nonsense
SNP
0.327
3GainND
KLRB1-
-
-
-
3GainND
KLRC1-
-
-
-
3GainND
KLRC2-
-
-
-
3GainND
KLRC3-
-
-
-
3GainND
KLRC4-
-
-
-
3GainND
KLRC4-KLRK1-
-
-
-
3GainND
KLRD1-
-
-
-
3GainND
KLRF1-
-
-
-
3GainND
KLRF2-
-
-
-
3GainND
KLRG1-
-
-
-
3GainND
KLRK1-
-
-
-
3GainND
KMT2Cp.R2609*
Nonsense
SNP
0.478
NDNDND
KMT2D-
-
-
-
3GainND
KMT5A-
-
-
-
3GainND
KNTC1-
-
-
-
3GainND
KRAS-
-
-
-
3GainND
KRI1p.R70W
Missense
SNP
0.490
2-ND
KRR1-
-
-
-
3GainND
KRT1-
-
-
-
3GainND
KRT18-
-
-
-
3GainND
KRT2-
-
-
-
3GainND
KRT3-
-
-
-
3GainND
KRT4-
-
-
-
3GainND
KRT5-
-
-
-
3GainND
KRT6A-
-
-
-
3GainND
KRT6B-
-
-
-
3GainND
KRT6C-
-
-
-
3GainND
KRT7-
-
-
-
3GainND
KRT71-
-
-
-
3GainND
KRT72-
-
-
-
3GainND
KRT73-
-
-
-
3GainND
KRT74-
-
-
-
3GainND
KRT75-
-
-
-
3GainND
KRT76-
-
-
-
3GainND
KRT77-
-
-
-
3GainND
KRT78-
-
-
-
3GainND
KRT79-
-
-
-
3GainND
KRT8-
-
-
-
3GainND
KRT80-
-
-
-
3GainND
KRT81-
-
-
-
3GainND
KRT82-
-
-
-
3GainND
KRT83-
-
-
-
3GainND
KRT84-
-
-
-
3GainND
KRT85-
-
-
-
3GainND
KRT86-
-
-
-
3GainND
KSR2-
-
-
-
3GainND
L3MBTL4-
-
-
-
3GainND
LACRT-
-
-
-
3GainND
LAG3-
-
-
-
3GainND
LALBA-
-
-
-
3GainND
LAMA1-
-
-
-
3GainND
LAMA3-
-
-
-
3GainND
LAMC1p.E1072K
Missense
SNP
0.486
2-ND
LARP1-
-
-
-
3GainND
LARP4-
-
-
-
3GainND
LARS-
-
-
-
3GainND
LCP2-
-
-
-
3GainND
LDHB-
-
-
-
3GainND
LDLRAD4-
-
-
-
3GainND
LEAP2-
-
-
-
3GainND
LECT2-
-
-
-
3GainND
LEMD3-
-
-
-
3GainND
LENG9p.E281D
Missense
SNP
0.533
2-ND
LETMD1-
-
-
-
3GainND
LGR5-
-
-
-
3GainND
LHCGR-
-
-
-
1LossND
LHFPL2-
-
-
-
3GainND
LHX5-
-
-
-
3GainND
LIFR-
-
-
-
3GainND
LIMA1-
-
-
-
3GainND
LIN7A-
-
-
-
3GainND
LIN7Cp.R194M
Missense
SNP
0.496
2-ND
LINC02203-
-
-
-
5AmpND
LIPGp.R315H
Missense
SNP
0.676
3GainND
LIX1-
-
-
-
3GainND
LLPH-
-
-
-
3GainND
LMAN1-
-
-
-
3GainND
LMAN2-
-
-
-
3GainND
LMBR1L-
-
-
-
3GainND
LMBRD2-
-
-
-
3GainND
LMNB1-
-
-
-
3GainND
LMNTD1-
-
-
-
3GainND
LMO3-
-
-
-
3GainND
LNPEP-
-
-
-
3GainND
LOX-
-
-
-
3GainND
LOXHD1-
-
-
-
3GainND
LPAp.R1868M
Missense
SNP
0.465
2-ND
LPAR5-
-
-
-
3GainND
LPCAT1-
-
-
-
3GainND
LPCAT3-
-
-
-
3GainND
LPIN2-
-
-
-
3GainND
LRCOL1-
-
-
-
3GainND
LRIG3-
-
-
-
3GainND
LRMP-
-
-
-
3GainND
LRP1-
-
-
-
3GainND
LRP1Bp.E148K
Missense
SNP
0.524
2-ND
LRP3p.R223C
Missense
SNP
0.446
2-ND
LRP6-
-
-
-
3GainND
LRPPRC-
-
-
-
1LossND
LRRC10-
-
-
-
3GainND
LRRC14B-
-
-
-
3GainND
LRRC16Ap.R1156W
Missense
SNP
0.541
NDNDND
LRRC23-
-
-
-
3GainND
LRRC30-
-
-
-
3GainND
LRRC37A-
-
-
-
1LossND
LRRC37A2-
-
-
-
1LossND
LRRC38p.R165C
Missense
SNP
0.505
2-ND
LRRC43-
-
-
-
3GainND
LRRC70-
-
-
-
3GainND
LRRIQ1-
-
-
-
3GainND
LRRK2-
-
-
-
3GainND
LRRTM2-
-
-
-
3GainND
LRTM2-
-
-
-
3GainND
LSM11-
-
-
-
3GainND
LTA4H-
-
-
-
3GainND
LTBR-
-
-
-
3GainND
LTC4S-
-
-
-
3GainND
LTKp.G103R
Missense
SNP
0.517
2-ND
LUM-
-
-
-
3GainND
LVRN-
-
-
-
3GainND
LYRM7-
-
-
-
3GainND
LYSMD3-
-
-
-
3GainND
LYZ-
-
-
-
3GainND
M6PR-
-
-
-
3GainND
MAGEB3p.R59C
Missense
SNP
1.000
NDNDND
MAGOHB-
-
-
-
3GainND
MALT1-
-
-
-
3GainND
MAML1-
-
-
-
3GainND
MAN2A1-
-
-
-
3GainND
MANSC1-
-
-
-
3GainND
MANSC4-
-
-
-
3GainND
MAP1B-
-
-
-
3GainND
MAP1LC3B2-
-
-
-
3GainND
MAP2K7p.Q8*
Nonsense
SNP
0.491
2-ND
MAP3K1-
-
-
-
3GainND
MAP3K12-
-
-
-
3GainND
MAP3K3p.Q170H
Missense
SNP
0.522
2-ND
MAP4K4p.R354*
Nonsense
SNP
0.203
2-ND
MAPK4-
-
-
-
3GainND
MAPK8IP3p.A1153V
Missense
SNP
0.486
2-ND
MAPK9-
-
-
-
3GainND
MAPKAPK5-
-
-
-
3GainND
MAPRE2-
-
-
-
3GainND
MARCH11-
-
-
-
3GainND
MARCH3-
-
-
-
3GainND
MARCH6-
-
-
-
3GainND
MARCH9-
-
-
-
3GainND
MARS-
-
-
-
3GainND
MARVELD2-
-
-
-
3GainND
MAST4-
-
-
-
3GainND
MAT2B-
-
-
-
3GainND
MATR3-
-
-
-
3GainND
MBD1-
-
-
-
3GainND
MBD2-
-
-
-
3GainND
MBD6-
-
-
-
3GainND
MBLAC1p.G181V
Missense
SNP
0.514
2-ND
MBLAC2-
-
-
-
3GainND
MBP-
-
-
-
3GainND
MC2R-
-
-
-
3GainND
MC4R-
-
-
-
3GainND
MC5R-
-
-
-
3GainND
MCC-
-
-
-
3GainND
MCCC2-
-
-
-
3GainND
MCFD2-
-
-
-
1LossND
MCIDAS-
-
-
-
3GainND
MCRS1-
-
-
-
3GainND
MCTP1-
-
-
-
3GainND
MDM1-
-
-
-
3GainND
MDM2-
-
-
-
3GainND
MDN1p.I2111M
Missense
SNP
0.548
2-ND
ME2-
-
-
-
3GainND
MED10-
-
-
-
3GainND
MED13L-
-
-
-
3GainND
MED21-
-
-
-
3GainND
MED7-
-
-
-
3GainND
MEF2C-
-
-
-
3GainND
MEGF10-
-
-
-
3GainND
MEP1B-
-
-
-
3GainND
METp.T1010I
Missense
SNP
0.516
2-ND
METAP2-
-
-
-
3GainND
METTL1-
-
-
-
3GainND
METTL25-
-
-
-
3GainND
METTL4-
-
-
-
3GainND
METTL7A-
-
-
-
3GainND
METTL7B-
-
-
-
3GainND
MEX3C-
-
-
-
3GainND
MFAP3-
-
-
-
3GainND
MFAP5-
-
-
-
3GainND
MFSD5-
-
-
-
3GainND
MGAT1-
-
-
-
3GainND
MGAT4B-
-
-
-
3GainND
MGAT4C-
-
-
-
3GainND
MGP-
-
-
-
3GainND
MGST1-
-
-
-
3GainND
MIB1-
-
-
-
3GainND
MIER3-
-
-
-
3GainND
MIP-
-
-
-
3GainND
MISPp.R346C
Missense
SNP
0.467
2-ND
MKKSp.A163V
Missense
SNP
0.466
2-ND
MLEC-
-
-
-
3GainND
MLF2-
-
-
-
3GainND
MLXIP-
-
-
-
3GainND
MMAB-
-
-
-
3GainND
MMP15p.T175M
Missense
SNP
0.546
2-ND
MMP17-
-
-
-
3GainND
MMP19-
-
-
-
3GainND
MOCOS-
-
-
-
3GainND
MOCS2-
-
-
-
3GainND
MON2-
-
-
-
3GainND
MORN3-
-
-
-
3GainND
MPHOSPH9-
-
-
-
3GainND
MPPE1-
-
-
-
3GainND
MRNIP-
-
-
-
3GainND
MRO-
-
-
-
3GainND
MROH2B-
-
-
-
3GainND
MRPL22-
-
-
-
3GainND
MRPL36-
-
-
-
3GainND
MRPL42-
-
-
-
3GainND
MRPL51-
-
-
-
3GainND
MRPS27-
-
-
-
3GainND
MRPS30-
-
-
-
3GainND
MRPS35-
-
-
-
3GainND
MRPS36-
-
-
-
3GainND
MSH2-
-
-
-
1LossND
MSH3-
-
-
-
3GainND
MSH6-
-
-
-
1LossND
MSI1-
-
-
-
3GainND
MSI2p.A301V
Missense
SNP
0.553
2-ND
MSRB3-
-
-
-
3GainND
MSX2-
-
-
-
3GainND
MTCL1-
-
-
-
3GainND
MTERF2-
-
-
-
3GainND
MTMR12-
-
-
-
3GainND
MTORp.R1640W
Missense
SNP
0.465
2-ND
MTREX-
-
-
-
3GainND
MTRR-
-
-
-
3GainND
MTX3-
-
-
-
3GainND
MUC19-
-
-
-
3GainND
MUCL1-
-
-
-
3GainND
MVK-
-
-
-
3GainND
MXD3-
-
-
-
3GainND
MYBPC1-
-
-
-
3GainND
MYF5-
-
-
-
3GainND
MYF6-
-
-
-
3GainND
MYL12A-
-
-
-
3GainND
MYL12B-
-
-
-
3GainND
MYL2-
-
-
-
3GainND
MYL6-
-
-
-
3GainND
MYL6B-
-
-
-
3GainND
MYO10-
-
-
-
3GainND
MYO1A-
-
-
-
3GainND
MYO1Fp.A466T
Missense
SNP
0.475
2-ND
MYO1H-
-
-
-
3GainND
MYO5Ap.R790W
Missense
SNP
0.554
2-ND
MYO5B-
-
-
-
3GainND
MYOM1-
-
-
-
3GainND
MYOT-
-
-
-
3GainND
MYOZ3-
-
-
-
3GainND
MYRFL-
-
-
-
3GainND
MZB1-
-
-
-
3GainND
N4BP3-
-
-
-
3GainND
NAA25-
-
-
-
3GainND
NAB2-
-
-
-
3GainND
NABP2-
-
-
-
3GainND
NACA-
-
-
-
3GainND
NADK2p.R403H
Missense
SNP
0.282
3GainND
NAIP-
-
-
-
3GainND
NANOG-
-
-
-
3GainND
NANOGNB-
-
-
-
3GainND
NAP1L1-
-
-
-
3GainND
NAPG-
-
-
-
3GainND
NARS-
-
-
-
3GainND
NAV3-
-
-
-
3GainND
NCAPD2-
-
-
-
3GainND
NCKAP1L-
-
-
-
3GainND
NCKAP5L-
-
-
-
3GainND
NCOA1p.R692W
Missense
SNP
0.430
2-ND
NCOR1p.P813S
Missense
SNP
0.506
2-ND
NCOR2-
-
-
-
3GainND
NDC80-
-
-
-
3GainND
NDFIP1-
-
-
-
3GainND
NDST1-
-
-
-
3GainND
NDUFA12-
-
-
-
3GainND
NDUFA2-
-
-
-
3GainND
NDUFA4L2-
-
-
-
3GainND
NDUFA9-
-
-
-
3GainND
NDUFAF2-
-
-
-
3GainND
NDUFS4-
-
-
-
3GainND
NDUFS6-
-
-
-
3GainND
NDUFV2-
-
-
-
3GainND
NEBLp.V220A
Missense
SNP
0.412
2-ND
NECAP1-
-
-
-
3GainND
NEDD1-
-
-
-
3GainND
NEDD4L-
-
-
-
3GainND
NELL2-
-
-
-
3GainND
NEMP1-
-
-
-
3GainND
NETO1-
-
-
-
3GainND
NEURL1B-
-
-
-
3GainND
NEUROD4-
-
-
-
3GainND
NEUROG1-
-
-
-
3GainND
NFATC1-
-
-
-
3GainND
NFE2-
-
-
-
3GainND
NFE2L2p.A69S
Missense
SNP
0.479
2-ND
NFIAp.L176I
Missense
SNP
0.524
2-ND
NFYB-
-
-
-
3GainND
NHP2-
-
-
-
3GainND
NIM1K-
-
-
-
3GainND
NINJ2-
-
-
-
3GainND
NIPAL4-
-
-
-
3GainND
NIPBLp.R1779*
Nonsense
SNP
0.682
3GainND
NKD2-
-
-
-
3GainND
NKTRp.P1255S
Missense
SNP
0.440
2-ND
NKX2-5-
-
-
-
3GainND
NLGN2p.G95S
Missense
SNP
0.365
2-ND
NLN-
-
-
-
3GainND
NME5-
-
-
-
3GainND
NMUR2-
-
-
-
3GainND
NNT-
-
-
-
3GainND
NOC4L-
-
-
-
3GainND
NOL4-
-
-
-
3GainND
NOP16-
-
-
-
3GainND
NOP2-
-
-
-
3GainND
NOS1-
-
-
-
3GainND
NPC1-
-
-
-
3GainND
NPFF-
-
-
-
3GainND
NPM1-
-
-
-
3GainND
NPR3-
-
-
-
3GainND
NR1H4-
-
-
-
3GainND
NR2C1-
-
-
-
3GainND
NR2F1-
-
-
-
3GainND
NR3C1-
-
-
-
3GainND
NR4A1-
-
-
-
3GainND
NREP-
-
-
-
3GainND
NRG2-
-
-
-
3GainND
NRIP2-
-
-
-
3GainND
NRXN1-
-
-
-
1LossND
NSA2-
-
-
-
3GainND
NSD1-
-
-
-
3GainND
NSF-
-
-
-
1LossND
NSG2-
-
-
-
3GainND
NSUN2-
-
-
-
3GainND
NT5DC2p.X471_splice
Splice_Site
SNP
0.502
2-ND
NT5DC3-
-
-
-
3GainND
NTF3-
-
-
-
3GainND
NTN4-
-
-
-
3GainND
NTNG1-
-
-
-
3GainND
NTS-
-
-
-
3GainND
NUAK1-
-
-
-
3GainND
NUDCD2-
-
-
-
3GainND
NUDT12-
-
-
-
3GainND
NUDT13p.A68P
Missense
SNP
0.481
2-ND
NUDT4-
-
-
-
3GainND
NUP107-
-
-
-
3GainND
NUP155-
-
-
-
3GainND
NUP37-
-
-
-
3GainND
NUP98p.R1095H
Missense
SNP
0.476
2-ND
NXPH4-
-
-
-
3GainND
OAS1-
-
-
-
3GainND
OAS2-
-
-
-
3GainND
OAS3-
-
-
-
3GainND
OASL-
-
-
-
3GainND
OCLN-
-
-
-
3GainND
OGFOD2-
-
-
-
3GainND
OGTp.A671V
Missense
SNP
1.000
NDNDND
OLR1-
-
-
-
3GainND
ONECUT2-
-
-
-
3GainND
OR10A7-
-
-
-
3GainND
OR10AD1-
-
-
-
3GainND
OR10P1-
-
-
-
3GainND
OR2AP1-
-
-
-
3GainND
OR2V1-
-
-
-
3GainND
OR2V2-
-
-
-
3GainND
OR2Y1-
-
-
-
3GainND
OR4A47p.C95Y
Missense
SNP
0.481
2-ND
OR4C11p.A234V
Missense
SNP
1.000
2-ND
OR4M2-
-
-
-
5AmpND
OR4N4-
-
-
-
5AmpND
OR52H1p.R180H
Missense
SNP
0.491
2-ND
OR56A3p.L69I
Missense
SNP
0.411
2-ND
OR5BS1P-
-
-
-
3GainND
OR6C1-
-
-
-
3GainND
OR6C2-
-
-
-
3GainND
OR6C3-
-
-
-
3GainND
OR6C4-
-
-
-
3GainND
OR6C6-
-
-
-
3GainND
OR6C65-
-
-
-
3GainND
OR6C68-
-
-
-
3GainND
OR6C70-
-
-
-
3GainND
OR6C74-
-
-
-
3GainND
OR6C75-
-
-
-
3GainND
OR6C76-
-
-
-
3GainND
OR6T1p.R261H
Missense
SNP
0.497
2-ND
OR7E47P-
-
-
-
3GainND
OR8S1-
-
-
-
3GainND
OR9K2-
-
-
-
3GainND
ORAI1-
-
-
-
3GainND
ORMDL2-
-
-
-
3GainND
OS9-
-
-
-
3GainND
OSBPL1A-
-
-
-
3GainND
OSBPL8-
-
-
-
3GainND
OSMR-
-
-
-
3GainND
OTOFp.K1859N
Missense
SNP
0.481
2-ND
OTOGL-
-
-
-
3GainND
OTP-
-
-
-
3GainND
OTULIN-
-
-
-
3GainND
OTULINL-
-
-
-
3GainND
OVCH1-
-
-
-
3GainND
OXCT1-
-
-
-
3GainND
P2RX2-
-
-
-
3GainND
P2RX4-
-
-
-
3GainND
P2RX7-
-
-
-
3GainND
P3H3-
-
-
-
3GainND
P4HA2-
-
-
-
3GainND
PA2G4-
-
-
-
3GainND
PAH-
-
-
-
3GainND
PAIP1-
-
-
-
3GainND
PAIP2-
-
-
-
3GainND
PAK5p.A466T
Missense
SNP
0.527
2-ND
PAM-
-
-
-
3GainND
PAN2-
-
-
-
3GainND
PANK3-
-
-
-
3GainND
PAPSS2p.A468T
Missense
SNP
0.488
2-ND
PARD6G-
-
-
-
3GainND
PARP11-
-
-
-
3GainND
PARP8-
-
-
-
3GainND
PARPBP-
-
-
-
3GainND
PAWR-
-
-
-
3GainND
PCBD2-
-
-
-
3GainND
PCBP2-
-
-
-
3GainND
PCDH1-
-
-
-
3GainND
PCDH12-
-
-
-
3GainND
PCDH15p.F1153I
Missense
SNP
0.509
2-ND
PCDHA1-
-
-
-
3GainND
PCDHA10-
-
-
-
3GainND
PCDHA11-
-
-
-
3GainND
PCDHA12-
-
-
-
3GainND
PCDHA13-
-
-
-
3GainND
PCDHA2-
-
-
-
3GainND
PCDHA3-
-
-
-
3GainND
PCDHA4-
-
-
-
3GainND
PCDHA5-
-
-
-
3GainND
PCDHA6-
-
-
-
3GainND
PCDHA7p.A615V
Missense
SNP
0.708
3GainND
PCDHA8-
-
-
-
3GainND
PCDHA9-
-
-
-
3GainND
PCDHAC1-
-
-
-
3GainND
PCDHAC2-
-
-
-
3GainND
PCDHB1-
-
-
-
3GainND
PCDHB10-
-
-
-
3GainND
PCDHB11-
-
-
-
3GainND
PCDHB12-
-
-
-
3GainND
PCDHB13-
-
-
-
3GainND
PCDHB14-
-
-
-
3GainND
PCDHB15-
-
-
-
3GainND
PCDHB16-
-
-
-
3GainND
PCDHB2-
-
-
-
3GainND
PCDHB3-
-
-
-
3GainND
PCDHB4-
-
-
-
3GainND
PCDHB5-
-
-
-
3GainND
PCDHB6p.A63T
Missense
SNP
0.685
3GainND
PCDHB7-
-
-
-
3GainND
PCDHB8-
-
-
-
3GainND
PCDHB9-
-
-
-
3GainND
PCDHGA1-
-
-
-
3GainND
PCDHGA10-
-
-
-
3GainND
PCDHGA11-
-
-
-
3GainND
PCDHGA12-
-
-
-
3GainND
PCDHGA2-
-
-
-
3GainND
PCDHGA3-
-
-
-
3GainND
PCDHGA4-
-
-
-
3GainND
PCDHGA5-
-
-
-
3GainND
PCDHGA6-
-
-
-
3GainND
PCDHGA7-
-
-
-
3GainND
PCDHGA8-
-
-
-
3GainND
PCDHGA9-
-
-
-
3GainND
PCDHGB1-
-
-
-
3GainND
PCDHGB2-
-
-
-
3GainND
PCDHGB3-
-
-
-
3GainND
PCDHGB4-
-
-
-
3GainND
PCDHGB5-
-
-
-
3GainND
PCDHGB6-
-
-
-
3GainND
PCDHGB7-
-
-
-
3GainND
PCDHGC3-
-
-
-
3GainND
PCDHGC4-
-
-
-
3GainND
PCDHGC5-
-
-
-
3GainND
PCED1B-
-
-
-
3GainND
PCNTp.A1523V
Missense
SNP
0.511
2-ND
PCNX2p.X897_splice
Splice_Site
SNP
0.504
2-ND
PCSK1-
-
-
-
3GainND
PCYOX1L-
-
-
-
3GainND
PDCD6-
-
-
-
3GainND
PDE10Ap.R439W
Missense
SNP
0.495
2-ND
PDE1B-
-
-
-
3GainND
PDE3A-
-
-
-
3GainND
PDE4D-
-
-
-
3GainND
PDE6A-
-
-
-
3GainND
PDE6H-
-
-
-
3GainND
PDE8B-
-
-
-
3GainND
PDGFRB-
-
-
-
3GainND
PDLIM4-
-
-
-
3GainND
PDLIM7-
-
-
-
3GainND
PDZD2p.R787H
Missense
SNP
0.657
3GainND
PDZRN4-
-
-
-
3GainND
PEBP1-
-
-
-
3GainND
PELO-
-
-
-
3GainND
PEX5-
-
-
-
3GainND
PFDN1-
-
-
-
3GainND
PFDN5-
-
-
-
3GainND
PFKM-
-
-
-
3GainND
PFN3-
-
-
-
3GainND
PGAM5-
-
-
-
3GainND
PGGT1B-
-
-
-
3GainND
PHAX-
-
-
-
3GainND
PHB2-
-
-
-
3GainND
PHC1-
-
-
-
3GainND
PHC2p.A91T
Missense
SNP
0.380
2-ND
PHETA1-
-
-
-
3GainND
PHIPp.C1020Y
Missense
SNP
0.500
2-ND
PHLDA1-
-
-
-
3GainND
PHLPP1-
-
-
-
3GainND
PHYKPL-
-
-
-
3GainND
PIANPp.R78W
Missense
SNP
0.610
3GainND
PIAS2-
-
-
-
3GainND
PIEZO2-
-
-
-
3GainND
PIGF-
-
-
-
1LossND
PIGN-
-
-
-
3GainND
PIGVp.R203C
Missense
SNP
0.445
2-ND
PIK3C2G-
-
-
-
3GainND
PIK3C3-
-
-
-
3GainND
PIK3R1-
-
-
-
3GainND
PIK3R6p.R696H
Missense
SNP
0.358
2-ND
PIP4K2C-
-
-
-
3GainND
PISDp.R39W
Missense
SNP
0.503
2-ND
PITPNM1p.R133K
Missense
SNP
0.517
2-ND
PITPNM2-
-
-
-
3GainND
PITPNM3p.T688I
Missense
SNP
0.472
2-ND
PITX1p.R145H
Missense
SNP
0.214
3GainND
PIWIL1-
-
-
-
3GainND
PJA2-
-
-
-
3GainND
PKD2L2-
-
-
-
3GainND
PKP2-
-
-
-
3GainND
PLA2G1B-
-
-
-
3GainND
PLAC8L1-
-
-
-
3GainND
PLBD1-
-
-
-
3GainND
PLBD2-
-
-
-
3GainND
PLCH2p.R914W
Missense
SNP
0.458
2-ND
PLCXD3-
-
-
-
3GainND
PLCZ1-
-
-
-
3GainND
PLD1p.E39D
Missense
SNP
0.475
2-ND
PLEKHA5-
-
-
-
3GainND
PLEKHG4B-
-
-
-
3GainND
PLEKHG6-
-
-
-
3GainND
PLEKHG7-
-
-
-
3GainND
PLEKHH2-
-
-
-
1LossND
PLEKHM3p.G516C
Missense
SNP
0.474
2-ND
PLK2-
-
-
-
3GainND
PLPP1-
-
-
-
3GainND
PLXNC1-
-
-
-
3GainND
PMAIP1-
-
-
-
3GainND
PMCH-
-
-
-
3GainND
PMEL-
-
-
-
3GainND
POC1B-
-
-
-
3GainND
POC1B-GALNT4-
-
-
-
3GainND
POC5-
-
-
-
3GainND
PODNL1p.R96H
Missense
SNP
0.522
2-ND
POLD1p.R126C
Missense
SNP
0.545
2-ND
POLE-
-
-
-
3GainND
POLI-
-
-
-
3GainND
POLK-
-
-
-
3GainND
POLR3B-
-
-
-
3GainND
POLR3G-
-
-
-
3GainND
POP5-
-
-
-
3GainND
POTEB-
-
-
-
5AmpND
POTEB2-
-
-
-
5AmpND
POTEC-
-
-
-
3GainND
POU2F3p.T23M
Missense
SNP
0.509
2-ND
POU4F2p.R264C
Missense
SNP
0.490
2-ND
POU4F3-
-
-
-
3GainND
POU5F2-
-
-
-
3GainND
POU6F1-
-
-
-
3GainND
PPARGC1B-
-
-
-
3GainND
PPFIA2-
-
-
-
3GainND
PPFIBP1-
-
-
-
3GainND
PPHLN1-
-
-
-
3GainND
PPIC-
-
-
-
3GainND
PPIP5K2-
-
-
-
3GainND
PPM1B-
-
-
-
1LossND
PPM1H-
-
-
-
3GainND
PPP1CC-
-
-
-
3GainND
PPP1R12A-
-
-
-
3GainND
PPP1R1A-
-
-
-
3GainND
PPP1R21-
-
-
-
1LossND
PPP1R2B-
-
-
-
3GainND
PPP2CA-
-
-
-
3GainND
PPP2R2B-
-
-
-
3GainND
PPP4R1-
-
-
-
3GainND
PPP6R3p.R344Q
Missense
SNP
0.414
2-ND
PPTC7-
-
-
-
3GainND
PPWD1-
-
-
-
3GainND
PQLC1-
-
-
-
3GainND
PRB1-
-
-
-
3GainND
PRB2p.G137R
Missense
SNP
0.242
3GainND
PRB3-
-
-
-
3GainND
PRB4-
-
-
-
3GainND
PRDM4-
-
-
-
3GainND
PRDM6-
-
-
-
3GainND
PRDM9-
-
-
-
3GainND
PRELID1-
-
-
-
3GainND
PRELID2-
-
-
-
3GainND
PRELID3A-
-
-
-
3GainND
PREPL-
-
-
-
1LossND
PRH1-
-
-
-
3GainND
PRH1-PRR4-
-
-
-
3GainND
PRH2-
-
-
-
3GainND
PRICKLE1-
-
-
-
3GainND
PRIM1-
-
-
-
3GainND
PRKAA1-
-
-
-
3GainND
PRKAB1-
-
-
-
3GainND
PRKAG1-
-
-
-
3GainND
PRKCE-
-
-
-
1LossND
PRKD2p.A872V
Missense
SNP
0.412
2-ND
PRLR-
-
-
-
3GainND
PRMT6-
-
-
-
3GainND
PRMT8-
-
-
-
3GainND
PROB1-
-
-
-
3GainND
PROP1-
-
-
-
3GainND
PRPF40B-
-
-
-
3GainND
PRPH-
-
-
-
3GainND
PRR13-
-
-
-
3GainND
PRR16-
-
-
-
3GainND
PRR4-
-
-
-
3GainND
PRR7-
-
-
-
3GainND
PRRC1-
-
-
-
3GainND
PRSS1p.S127Y
Missense
SNP
0.435
NDNDND
PRSS38p.P72S
Missense
SNP
0.474
2-ND
PSD2-
-
-
-
3GainND
PSG1-
-
-
-
1LossND
PSG11-
-
-
-
1LossND
PSG2-
-
-
-
1LossND
PSG4-
-
-
-
1LossND
PSG5-
-
-
-
1LossND
PSG6-
-
-
-
1LossND
PSG7-
-
-
-
1LossND
PSG8-
-
-
-
1LossND
PSMA8-
-
-
-
3GainND
PSMD9-
-
-
-
3GainND
PSMG2-
-
-
-
3GainND
PSTPIP2-
-
-
-
3GainND
PTCD2-
-
-
-
3GainND
PTGER4-
-
-
-
3GainND
PTGES3-
-
-
-
3GainND
PTHLH-
-
-
-
3GainND
PTMS-
-
-
-
3GainND
PTPN11-
-
-
-
3GainND
PTPN2-
-
-
-
3GainND
PTPN6-
-
-
-
3GainND
PTPRB-
-
-
-
3GainND
PTPRM-
-
-
-
3GainND
PTPRO-
-
-
-
3GainND
PTPRQ-
-
-
-
3GainND
PTPRR-
-
-
-
3GainND
PTPRTp.P291H
Missense
SNP
0.534
2-ND
PTPRZ1p.D1763Y
Missense
SNP
0.507
2-ND
PTTG1-
-
-
-
3GainND
PURA-
-
-
-
3GainND
PUS1-
-
-
-
3GainND
PUS7L-
-
-
-
3GainND
PWP1-
-
-
-
3GainND
PWWP2A-
-
-
-
3GainND
PXMP2-
-
-
-
3GainND
PXN-
-
-
-
3GainND
PYM1-
-
-
-
3GainND
PYROXD1-
-
-
-
3GainND
PZP-
-
-
-
3GainND
R3HDM2-
-
-
-
3GainND
RAB12-
-
-
-
3GainND
RAB21-
-
-
-
3GainND
RAB24-
-
-
-
3GainND
RAB27B-
-
-
-
3GainND
RAB31-
-
-
-
3GainND
RAB35-
-
-
-
3GainND
RAB3C-
-
-
-
3GainND
RAB3IP-
-
-
-
3GainND
RAB5B-
-
-
-
3GainND
RACGAP1-
-
-
-
3GainND
RACK1-
-
-
-
3GainND
RAD1-
-
-
-
3GainND
RAD17-
-
-
-
3GainND
RAD50-
-
-
-
3GainND
RAD51AP1-
-
-
-
3GainND
RAD52-
-
-
-
3GainND
RAD9B-
-
-
-
3GainND
RAI14-
-
-
-
3GainND
RALBP1-
-
-
-
3GainND
RAN-
-
-
-
3GainND
RANBP17-
-
-
-
3GainND
RANBP3L-
-
-
-
3GainND
RAP1B-
-
-
-
3GainND
RAPGEF3-
-
-
-
3GainND
RAPGEF6-
-
-
-
3GainND
RARG-
-
-
-
3GainND
RARS-
-
-
-
3GainND
RASA1-
-
-
-
3GainND
RASAL1-
-
-
-
3GainND
RASEF-
-
-
-
1LossND
RASGEF1C-
-
-
-
3GainND
RASGRF2-
-
-
-
3GainND
RASSF3-
-
-
-
3GainND
RASSF8-
-
-
-
3GainND
RASSF9-
-
-
-
3GainND
RAX-
-
-
-
3GainND
RBBP8-
-
-
-
3GainND
RBFA-
-
-
-
3GainND
RBM19-
-
-
-
3GainND
RBM22-
-
-
-
3GainND
RBM27-
-
-
-
3GainND
RBMS2-
-
-
-
3GainND
RBP5-
-
-
-
3GainND
RDH16-
-
-
-
3GainND
RDH5-
-
-
-
3GainND
RECQL-
-
-
-
3GainND
REEP2-
-
-
-
3GainND
REEP5-
-
-
-
3GainND
RELCH-
-
-
-
3GainND
RELL2-
-
-
-
3GainND
REP15-
-
-
-
3GainND
REREp.A1073V
Missense
SNP
0.565
2-ND
RERG-
-
-
-
3GainND
RERGL-
-
-
-
3GainND
RETREG1-
-
-
-
3GainND
RFC5-
-
-
-
3GainND
RFESD-
-
-
-
3GainND
RFLNA-
-
-
-
3GainND
RFX4-
-
-
-
3GainND
RGMBp.G287V
Missense
SNP
0.655
3GainND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS14-
-
-
-
3GainND
RGS7BP-
-
-
-
3GainND
RHEBL1-
-
-
-
3GainND
RHNO1-
-
-
-
3GainND
RHOBTB3-
-
-
-
3GainND
RHOF-
-
-
-
3GainND
RHOQ-
-
-
-
1LossND
RHPN2p.P332L
Missense
SNP
0.459
2-ND
RIC8B-
-
-
-
3GainND
RICTOR-
-
-
-
3GainND
RILPL1-
-
-
-
3GainND
RILPL2-
-
-
-
3GainND
RIMBP2-
-
-
-
3GainND
RIMKLB-
-
-
-
3GainND
RIOK2-
-
-
-
3GainND
RIOK3-
-
-
-
3GainND
RIT2-
-
-
-
3GainND
RITA1-
-
-
-
3GainND
RMC1-
-
-
-
3GainND
RMND5B-
-
-
-
3GainND
RND1-
-
-
-
3GainND
RNF10-
-
-
-
3GainND
RNF125-
-
-
-
3GainND
RNF130-
-
-
-
3GainND
RNF138-
-
-
-
3GainND
RNF14-
-
-
-
3GainND
RNF145-
-
-
-
3GainND
RNF152-
-
-
-
3GainND
RNF165-
-
-
-
3GainND
RNF175p.K126N
Missense
SNP
0.568
2-ND
RNF180-
-
-
-
3GainND
RNF34-
-
-
-
3GainND
RNF41-
-
-
-
3GainND
RNF44-
-
-
-
3GainND
RNFT2-
-
-
-
3GainND
RNMT-
-
-
-
3GainND
RNPC3-
-
-
-
3GainND
ROBO3p.R400H
Missense
SNP
0.532
2-ND
ROBO4p.R493H
Missense
SNP
0.500
2-ND
ROCK1-
-
-
-
3GainND
ROPN1L-
-
-
-
3GainND
RPAP3-
-
-
-
3GainND
RPGRIP1p.A513T
Missense
SNP
0.457
2-ND
RPH3A-
-
-
-
3GainND
RPL17-
-
-
-
3GainND
RPL17-C18orf32-
-
-
-
3GainND
RPL26L1-
-
-
-
3GainND
RPL37-
-
-
-
3GainND
RPL41-
-
-
-
3GainND
RPL6-
-
-
-
3GainND
RPLP0-
-
-
-
3GainND
RPRD1A-
-
-
-
3GainND
RPS14-
-
-
-
3GainND
RPS23-
-
-
-
3GainND
RPS26-
-
-
-
3GainND
RRP12p.R415H
Missense
SNP
0.428
2-ND
RSRC2-
-
-
-
3GainND
RTTN-
-
-
-
3GainND
RUFY1-
-
-
-
3GainND
RXFP3p.R81W
Missense
SNP
0.345
3GainND
RXYLT1-
-
-
-
3GainND
RYR3p.R2224C
Missense
SNP
0.445
2-ND
S100Z-
-
-
-
3GainND
SAFB2p.R755H
Missense
SNP
0.449
2-ND
SALL3-
-
-
-
3GainND
SAP30L-
-
-
-
3GainND
SAR1B-
-
-
-
3GainND
SARDHp.E423K
Missense
SNP
0.535
2-ND
SARNP-
-
-
-
3GainND
SART3-
-
-
-
3GainND
SATB1p.A286V
Missense
SNP
0.563
2-ND
SBNO1p.E619D
Missense
SNP
0.343
3GainND
SCAF11-
-
-
-
3GainND
SCAMP1-
-
-
-
3GainND
SCARB1-
-
-
-
3GainND
SCGB3A1-
-
-
-
3GainND
SCGB3A2-
-
-
-
3GainND
SCN8A-
-
-
-
3GainND
SCNN1A-
-
-
-
3GainND
SCRT2p.T261M
Missense
SNP
0.453
2-ND
SCYL2-
-
-
-
3GainND
SDHA-
-
-
-
3GainND
SDK1p.R1867W
Missense
SNP
0.497
2-ND
SDR9C7-
-
-
-
3GainND
SDS-
-
-
-
3GainND
SDSL-
-
-
-
3GainND
SEC11C-
-
-
-
3GainND
SEC24A-
-
-
-
3GainND
SEH1L-
-
-
-
3GainND
SELENOP-
-
-
-
3GainND
SELPLG-
-
-
-
3GainND
SEMA4Dp.K775T
Missense
SNP
0.337
2-ND
SEMA5A-
-
-
-
3GainND
SEMA6Ap.R695C
Missense
SNP
0.716
3GainND
SENP1-
-
-
-
3GainND
SEPT8-
-
-
-
3GainND
SERF1A-
-
-
-
3GainND
SERF1B-
-
-
-
3GainND
SERINC5-
-
-
-
3GainND
SERPINB10-
-
-
-
3GainND
SERPINB11-
-
-
-
3GainND
SERPINB12-
-
-
-
3GainND
SERPINB13-
-
-
-
3GainND
SERPINB2-
-
-
-
3GainND
SERPINB3-
-
-
-
3GainND
SERPINB4-
-
-
-
3GainND
SERPINB5-
-
-
-
3GainND
SERPINB7-
-
-
-
3GainND
SERPINB8-
-
-
-
3GainND
SERPINH1p.A99T
Missense
SNP
0.458
2-ND
SETBP1-
-
-
-
3GainND
SETD1B-
-
-
-
3GainND
SETD9-
-
-
-
3GainND
SF1p.A671T
Missense
SNP
0.409
2-ND
SFSWAP-
-
-
-
3GainND
SFXN1-
-
-
-
3GainND
SGCD-
-
-
-
3GainND
SGTB-
-
-
-
3GainND
SH2B3-
-
-
-
3GainND
SH3BGRLp.A99V
Missense
SNP
1.000
NDNDND
SH3D21p.S205L
Missense
SNP
0.518
2-ND
SH3PXD2B-
-
-
-
3GainND
SH3RF2-
-
-
-
3GainND
SH3TC2-
-
-
-
3GainND
SHISAL2B-
-
-
-
3GainND
SHLD3-
-
-
-
3GainND
SHMT2-
-
-
-
3GainND
SHROOM1-
-
-
-
3GainND
SHROOM4p.E209D
Missense
SNP
1.000
NDNDND
SIGLEC15-
-
-
-
3GainND
SIL1-
-
-
-
3GainND
SIMC1-
-
-
-
3GainND
SIN3Ap.E840G
Missense
SNP
0.492
2-ND
SINHCAF-
-
-
-
3GainND
SIPA1L2p.L506I
Missense
SNP
0.453
2-ND
SIRT4-
-
-
-
3GainND
SIX2-
-
-
-
1LossND
SIX3-
-
-
-
1LossND
SKA1-
-
-
-
3GainND
SKOR2-
-
-
-
3GainND
SKP1-
-
-
-
3GainND
SKP2-
-
-
-
3GainND
SLAp.R173H
Missense
SNP
0.455
2-ND
SLC11A2-
-
-
-
3GainND
SLC12A2-
-
-
-
3GainND
SLC12A7-
-
-
-
3GainND
SLC14A1-
-
-
-
3GainND
SLC14A2-
-
-
-
3GainND
SLC15A4-
-
-
-
3GainND
SLC15A5-
-
-
-
3GainND
SLC16A7-
-
-
-
3GainND
SLC17A6p.E559K
Missense
SNP
0.479
2-ND
SLC17A8-
-
-
-
3GainND
SLC1A3-
-
-
-
3GainND
SLC22A1p.A257T
Missense
SNP
0.521
2-ND
SLC22A2p.V41I
Missense
SNP
0.530
2-ND
SLC22A4-
-
-
-
3GainND
SLC22A5-
-
-
-
3GainND
SLC23A1-
-
-
-
3GainND
SLC25A2-
-
-
-
3GainND
SLC25A3-
-
-
-
3GainND
SLC25A37p.E98K
Missense
SNP
0.473
2-ND
SLC25A46-
-
-
-
3GainND
SLC25A48-
-
-
-
3GainND
SLC25A52-
-
-
-
3GainND
SLC26A10-
-
-
-
3GainND
SLC26A2-
-
-
-
3GainND
SLC26A6p.V323M
Missense
SNP
0.479
2-ND
SLC27A6-
-
-
-
3GainND
SLC2A13-
-
-
-
3GainND
SLC2A14-
-
-
-
3GainND
SLC2A3-
-
-
-
3GainND
SLC30A5-
-
-
-
3GainND
SLC34A1-
-
-
-
3GainND
SLC35A4-
-
-
-
3GainND
SLC35E3-
-
-
-
3GainND
SLC35G4-
-
-
-
3GainND
SLC36A1-
-
-
-
3GainND
SLC36A2-
-
-
-
3GainND
SLC36A3-
-
-
-
3GainND
SLC38A1-
-
-
-
3GainND
SLC38A2-
-
-
-
3GainND
SLC38A4-
-
-
-
3GainND
SLC38A9-
-
-
-
3GainND
SLC39A5-
-
-
-
3GainND
SLC39A6-
-
-
-
3GainND
SLC3A1-
-
-
-
1LossND
SLC41A2-
-
-
-
3GainND
SLC45A2-
-
-
-
3GainND
SLC48A1-
-
-
-
3GainND
SLC4A8-
-
-
-
3GainND
SLC4A9-
-
-
-
3GainND
SLC5A8-
-
-
-
3GainND
SLC6A12-
-
-
-
3GainND
SLC6A13-
-
-
-
3GainND
SLC6A15-
-
-
-
3GainND
SLC6A18-
-
-
-
3GainND
SLC6A19-
-
-
-
3GainND
SLC6A3p.R601H
Missense
SNP
0.348
3GainND
SLC6A7-
-
-
-
3GainND
SLC8B1-
-
-
-
3GainND
SLC9A3-
-
-
-
3GainND
SLCO1A2-
-
-
-
3GainND
SLCO1B1-
-
-
-
3GainND
SLCO1B3-
-
-
-
3GainND
SLCO1B7-
-
-
-
3GainND
SLCO1C1-
-
-
-
3GainND
SLCO4C1-
-
-
-
3GainND
SLCO6A1-
-
-
-
3GainND
SLF1-
-
-
-
3GainND
SLIT3-
-
-
-
3GainND
SLU7-
-
-
-
3GainND
SMAD2-
-
-
-
3GainND
SMAD4-
-
-
-
3GainND
SMAD5-
-
-
-
3GainND
SMAD7-
-
-
-
3GainND
SMAGP-
-
-
-
3GainND
SMARCC2-
-
-
-
3GainND
SMARCD1-
-
-
-
3GainND
SMCHD1-
-
-
-
3GainND
SMCO2-
-
-
-
3GainND
SMCO3-
-
-
-
3GainND
SMG5p.T506M
Missense
SNP
0.508
2-ND
SMIM15-
-
-
-
3GainND
SMIM21-
-
-
-
3GainND
SMIM23-
-
-
-
3GainND
SMIM3-
-
-
-
3GainND
SMIM32-
-
-
-
3GainND
SMIM33-
-
-
-
3GainND
SMN1-
-
-
-
3GainND
SMN2-
-
-
-
3GainND
SMUG1-
-
-
-
3GainND
SNCAIP-
-
-
-
3GainND
SNCB-
-
-
-
3GainND
SND1p.A32T
Missense
SNP
0.521
2-ND
SNRNP35-
-
-
-
3GainND
SNRPD1-
-
-
-
3GainND
SNRPF-
-
-
-
3GainND
SNX18-
-
-
-
3GainND
SNX2-
-
-
-
3GainND
SNX24-
-
-
-
3GainND
SOAT2-
-
-
-
3GainND
SOCS2-
-
-
-
3GainND
SOCS5-
-
-
-
1LossND
SOCS6-
-
-
-
3GainND
SORCS1p.V858I
Missense
SNP
0.520
2-ND
SORCS2p.A425T
Missense
SNP
0.495
2-ND
SOWAHA-
-
-
-
3GainND
SOX30-
-
-
-
3GainND
SOX5-
-
-
-
3GainND
SP1-
-
-
-
3GainND
SP7-
-
-
-
3GainND
SPARC-
-
-
-
3GainND
SPATA24-
-
-
-
3GainND
SPATA31D1-
-
-
-
1LossND
SPATA31D3-
-
-
-
1LossND
SPATA31D4-
-
-
-
1LossND
SPATA9-
-
-
-
3GainND
SPATS2-
-
-
-
3GainND
SPDL1-
-
-
-
3GainND
SPEF2-
-
-
-
3GainND
SPIC-
-
-
-
3GainND
SPINK1-
-
-
-
3GainND
SPINK13-
-
-
-
3GainND
SPINK14-
-
-
-
3GainND
SPINK5-
-
-
-
3GainND
SPINK6-
-
-
-
3GainND
SPINK7-
-
-
-
3GainND
SPINK9-
-
-
-
3GainND
SPIRE1-
-
-
-
3GainND
SPOCK1-
-
-
-
3GainND
SPPL3-
-
-
-
3GainND
SPRY4-
-
-
-
3GainND
SPRYD3-
-
-
-
3GainND
SPRYD4-
-
-
-
3GainND
SPSB2-
-
-
-
3GainND
SPX-
-
-
-
3GainND
SPZ1-
-
-
-
3GainND
SQSTM1-
-
-
-
3GainND
SRA1-
-
-
-
3GainND
SRBD1-
-
-
-
1LossND
SRD5A1-
-
-
-
3GainND
SREK1-
-
-
-
3GainND
SREK1IP1-
-
-
-
3GainND
SRFBP1-
-
-
-
3GainND
SRGAP1p.A367V
Missense
SNP
0.298
3GainND
SRP19-
-
-
-
3GainND
SRRM4-
-
-
-
3GainND
SRSF9-
-
-
-
3GainND
SS18-
-
-
-
3GainND
SSBP2-
-
-
-
3GainND
SSH1-
-
-
-
3GainND
SSPN-
-
-
-
3GainND
ST8SIA1-
-
-
-
3GainND
ST8SIA3-
-
-
-
3GainND
ST8SIA4-
-
-
-
3GainND
ST8SIA5-
-
-
-
3GainND
STAB2-
-
-
-
3GainND
STAC3-
-
-
-
3GainND
STARD4-
-
-
-
3GainND
STARD6-
-
-
-
3GainND
STAT2p.T434M
Missense
SNP
0.618
3GainND
STAT6-
-
-
-
3GainND
STC2-
-
-
-
3GainND
STK10-
-
-
-
3GainND
STK32Ap.R304K
Missense
SNP
0.605
3GainND
STK38L-
-
-
-
3GainND
STON1-
-
-
-
1LossND
STON1-GTF2A1L-
-
-
-
1LossND
STPG4-
-
-
-
1LossND
STRAP-
-
-
-
3GainND
STRC-
-
-
-
1LossND
STX1Ap.A261V
Missense
SNP
0.538
2-ND
STX2-
-
-
-
3GainND
STXBP5p.A1123V
Missense
SNP
0.497
2-ND
STYK1-
-
-
-
3GainND
SUB1-
-
-
-
3GainND
SUDS3-
-
-
-
3GainND
SUOX-
-
-
-
3GainND
SUSD2p.A800V
Missense
SNP
0.507
2-ND
SV2C-
-
-
-
3GainND
SVOP-
-
-
-
3GainND
SYCP3-
-
-
-
3GainND
SYNGAP1p.A997G
Missense
SNP
0.517
2-ND
SYNPO-
-
-
-
3GainND
SYT1-
-
-
-
3GainND
SYT10-
-
-
-
3GainND
SYT4-
-
-
-
3GainND
SZT2p.A762T
Missense
SNP
0.596
2-ND
TAC3-
-
-
-
3GainND
TAF1Lp.R1255W
Missense
SNP
0.536
2-ND
TAF4B-
-
-
-
3GainND
TAF7-
-
-
-
3GainND
TAF9-
-
-
-
3GainND
TAOK3-
-
-
-
3GainND
TAPBPL-
-
-
-
3GainND
TARBP2-
-
-
-
3GainND
TARS-
-
-
-
3GainND
TAS2R1-
-
-
-
3GainND
TAS2R10-
-
-
-
3GainND
TAS2R13-
-
-
-
3GainND
TAS2R14-
-
-
-
3GainND
TAS2R19-
-
-
-
3GainND
TAS2R20-
-
-
-
3GainND
TAS2R30-
-
-
-
3GainND
TAS2R31-
-
-
-
3GainND
TAS2R42-
-
-
-
3GainND
TAS2R46-
-
-
-
3GainND
TAS2R50-
-
-
-
3GainND
TAS2R7-
-
-
-
3GainND
TAS2R8-
-
-
-
3GainND
TAS2R9-
-
-
-
3GainND
TBC1D15-
-
-
-
3GainND
TBC1D2Bp.R302H
Missense
SNP
0.404
2-ND
TBC1D30-
-
-
-
3GainND
TBC1D32p.L462V
Missense
SNP
0.450
2-ND
TBC1D9B-
-
-
-
3GainND
TBCA-
-
-
-
3GainND
TBK1-
-
-
-
3GainND
TBX3-
-
-
-
3GainND
TBX5-
-
-
-
3GainND
TCEA1p.R192Q
Missense
SNP
0.464
2-ND
TCERG1-
-
-
-
3GainND
TCF4-
-
-
-
3GainND
TCF7-
-
-
-
3GainND
TCHP-
-
-
-
3GainND
TCOF1-
-
-
-
3GainND
TCP11L2-
-
-
-
3GainND
TCTN1-
-
-
-
3GainND
TCTN2-
-
-
-
3GainND
TDG-
-
-
-
3GainND
TEAD4-
-
-
-
3GainND
TENM2-
-
-
-
3GainND
TENT2-
-
-
-
3GainND
TENT4A-
-
-
-
3GainND
TERT-
-
-
-
3GainND
TESC-
-
-
-
3GainND
TESPA1-
-
-
-
3GainND
TEX43-
-
-
-
3GainND
TEX49-
-
-
-
3GainND
TEX52-
-
-
-
3GainND
TFCP2-
-
-
-
3GainND
TFPI2p.R62H
Missense
SNP
0.505
2-ND
TGFBI-
-
-
-
3GainND
TGIF1-
-
-
-
3GainND
THADA-
-
-
-
1LossND
THAP2-
-
-
-
3GainND
THAP3p.L220F
Missense
SNP
0.473
2-ND
THBS4-
-
-
-
3GainND
THG1L-
-
-
-
3GainND
THOC1-
-
-
-
3GainND
THOC3-
-
-
-
3GainND
TIFAB-
-
-
-
3GainND
TIGAR-
-
-
-
3GainND
TIGD6-
-
-
-
3GainND
TIMD4-
-
-
-
3GainND
TIMELESS-
-
-
-
3GainND
TIMM21-
-
-
-
3GainND
TLX3-
-
-
-
3GainND
TM7SF3-
-
-
-
3GainND
TMBIM4-
-
-
-
3GainND
TMBIM6-
-
-
-
3GainND
TMCC3-
-
-
-
3GainND
TMCO6-
-
-
-
3GainND
TMED2-
-
-
-
3GainND
TMED7-
-
-
-
3GainND
TMED7-TICAM2-
-
-
-
3GainND
TMED9-
-
-
-
3GainND
TMEM106C-
-
-
-
3GainND
TMEM116-
-
-
-
3GainND
TMEM117-
-
-
-
3GainND
TMEM119-
-
-
-
3GainND
TMEM120B-
-
-
-
3GainND
TMEM121p.R37H
Missense
SNP
0.475
2-ND
TMEM132B-
-
-
-
3GainND
TMEM132Cp.G273S
Missense
SNP
0.344
3GainND
TMEM132D-
-
-
-
3GainND
TMEM161B-
-
-
-
3GainND
TMEM167A-
-
-
-
3GainND
TMEM171-
-
-
-
3GainND
TMEM173-
-
-
-
3GainND
TMEM174-
-
-
-
3GainND
TMEM19-
-
-
-
3GainND
TMEM200C-
-
-
-
3GainND
TMEM201p.T42M
Missense
SNP
0.487
2-ND
TMEM232-
-
-
-
3GainND
TMEM233-
-
-
-
3GainND
TMEM241-
-
-
-
3GainND
TMEM247-
-
-
-
1LossND
TMEM263-
-
-
-
3GainND
TMEM267-
-
-
-
3GainND
TMEM52B-
-
-
-
3GainND
TMPO-
-
-
-
3GainND
TMPRSS12-
-
-
-
3GainND
TMTC1-
-
-
-
3GainND
TMTC2-
-
-
-
3GainND
TMTC3-
-
-
-
3GainND
TMX3-
-
-
-
3GainND
TNFAIP8-
-
-
-
3GainND
TNFRSF11A-
-
-
-
3GainND
TNFRSF1A-
-
-
-
3GainND
TNIP1-
-
-
-
3GainND
TNPO1-
-
-
-
3GainND
TNS2-
-
-
-
3GainND
TNXB-
-
-
-
1LossND
TOP3Ap.R439H
Missense
SNP
0.500
2-ND
TP53p.G244C
Missense
SNP
0.488
2-ND
TPBGp.R332W
Missense
SNP
0.578
2-ND
TPCN1-
-
-
-
3GainND
TPGS2-
-
-
-
3GainND
TPH2-
-
-
-
3GainND
TPI1-
-
-
-
3GainND
TPPP-
-
-
-
3GainND
TPRG1p.V85I
Missense
SNP
0.472
2-ND
TRAFD1-
-
-
-
3GainND
TRAPPC13-
-
-
-
3GainND
TRAPPC8-
-
-
-
3GainND
TREML1p.P112A
Missense
SNP
0.441
2-ND
TRHDE-
-
-
-
3GainND
TRIAP1-
-
-
-
3GainND
TRIM17p.P76H
Missense
SNP
0.496
2-ND
TRIM23-
-
-
-
3GainND
TRIM28p.R591H
Missense
SNP
0.519
2-ND
TRIM36-
-
-
-
3GainND
TRIM41-
-
-
-
3GainND
TRIM52-
-
-
-
3GainND
TRIM7-
-
-
-
3GainND
TRIO-
-
-
-
3GainND
TRIP13-
-
-
-
3GainND
TROAP-
-
-
-
3GainND
TRPC7-
-
-
-
3GainND
TRPV4-
-
-
-
3GainND
TSFM-
-
-
-
3GainND
TSHZ1-
-
-
-
3GainND
TSLP-
-
-
-
3GainND
TSPAN11-
-
-
-
3GainND
TSPAN17-
-
-
-
3GainND
TSPAN19-
-
-
-
3GainND
TSPAN31-
-
-
-
3GainND
TSPAN8-
-
-
-
3GainND
TSPAN9-
-
-
-
3GainND
TSSK1B-
-
-
-
3GainND
TTC1-
-
-
-
3GainND
TTC23L-
-
-
-
3GainND
TTC33-
-
-
-
3GainND
TTC37-
-
-
-
3GainND
TTC39C-
-
-
-
3GainND
TTC7A-
-
-
-
1LossND
TTNp.Y35651C
Missense
SNP
0.408
2-ND
TTR-
-
-
-
3GainND
TUBA1A-
-
-
-
3GainND
TUBA1B-
-
-
-
3GainND
TUBA1C-
-
-
-
3GainND
TUBB6-
-
-
-
3GainND
TULP3-
-
-
-
3GainND
TWF1-
-
-
-
3GainND
TWSG1-
-
-
-
3GainND
TXNDC15-
-
-
-
3GainND
TXNDC2-
-
-
-
3GainND
TXNL1-
-
-
-
3GainND
TXNL4A-
-
-
-
3GainND
TXNRD1p.P477L
Missense
SNP
0.327
3GainND
TYMS-
-
-
-
3GainND
UBC-
-
-
-
3GainND
UBE2B-
-
-
-
3GainND
UBE2D2-
-
-
-
3GainND
UBE2N-
-
-
-
3GainND
UBE2QL1-
-
-
-
3GainND
UBE3B-
-
-
-
3GainND
UBLCP1-
-
-
-
3GainND
UBR4p.R4967C
Missense
SNP
0.534
2-ND
UBTD2-
-
-
-
3GainND
UGT3A1-
-
-
-
3GainND
UGT3A2-
-
-
-
3GainND
UHRF1BP1L-
-
-
-
3GainND
UIMC1-
-
-
-
3GainND
ULK1-
-
-
-
3GainND
UNC119B-
-
-
-
3GainND
UNC5A-
-
-
-
3GainND
UNC5Bp.G509D
Missense
SNP
0.529
2-ND
UNG-
-
-
-
3GainND
UQCRQ-
-
-
-
3GainND
USP14-
-
-
-
3GainND
USP15-
-
-
-
3GainND
USP30-
-
-
-
3GainND
USP44-
-
-
-
3GainND
USP5-
-
-
-
3GainND
UTP15-
-
-
-
3GainND
UTP20-
-
-
-
3GainND
VAMP1-
-
-
-
3GainND
VAPA-
-
-
-
3GainND
VCAN-
-
-
-
3GainND
VDAC1-
-
-
-
3GainND
VDR-
-
-
-
3GainND
VEZT-
-
-
-
3GainND
VPS29-
-
-
-
3GainND
VPS33A-
-
-
-
3GainND
VPS37B-
-
-
-
3GainND
VPS4B-
-
-
-
3GainND
VPS9D1p.V621M
Missense
SNP
0.486
2-ND
VSIG10-
-
-
-
3GainND
VSX2p.R133*
Nonsense
SNP
0.491
2-ND
VTNp.E57*
Nonsense
SNP
0.485
2-ND
VWF-
-
-
-
3GainND
WASp.R157H
Missense
SNP
1.000
NDNDND
WASHC3-
-
-
-
3GainND
WASHC4-
-
-
-
3GainND
WBP11-
-
-
-
3GainND
WDR13p.R32H
Missense
SNP
1.000
NDNDND
WDR36-
-
-
-
3GainND
WDR41-
-
-
-
3GainND
WDR55-
-
-
-
3GainND
WDR66-
-
-
-
3GainND
WDR7-
-
-
-
3GainND
WDR70-
-
-
-
3GainND
WDR86p.A215T
Missense
SNP
0.409
NDNDND
WDTC1p.R409H
Missense
SNP
0.485
2-ND
WIF1-
-
-
-
3GainND
WNK1-
-
-
-
3GainND
WNT1-
-
-
-
3GainND
WNT10Ap.R113H
Missense
SNP
0.530
2-ND
WNT10B-
-
-
-
3GainND
WNT5B-
-
-
-
3GainND
WNT8A-
-
-
-
3GainND
WSB2-
-
-
-
3GainND
WSCD2-
-
-
-
3GainND
WWC1-
-
-
-
3GainND
WWOXp.S351Y
Missense
SNP
0.464
2-ND
XCR1p.E179K
Missense
SNP
0.480
2-ND
XDH-
-
-
-
1LossND
XPOT-
-
-
-
3GainND
XRCC4-
-
-
-
3GainND
YAF2-
-
-
-
3GainND
YARS2-
-
-
-
3GainND
YBX3-
-
-
-
3GainND
YEATS4-
-
-
-
3GainND
YES1-
-
-
-
3GainND
YIPF5-
-
-
-
3GainND
YTHDC2-
-
-
-
3GainND
ZADH2-
-
-
-
3GainND
ZBED3-
-
-
-
3GainND
ZBED8-
-
-
-
3GainND
ZBTB14-
-
-
-
3GainND
ZBTB39-
-
-
-
3GainND
ZBTB41p.R585C
Missense
SNP
0.467
2-ND
ZBTB7C-
-
-
-
3GainND
ZC3H10-
-
-
-
3GainND
ZCCHC10-
-
-
-
3GainND
ZCCHC2-
-
-
-
3GainND
ZCCHC8-
-
-
-
3GainND
ZCCHC9-
-
-
-
3GainND
ZCRB1-
-
-
-
3GainND
ZDHHC11-
-
-
-
3GainND
ZDHHC11B-
-
-
-
3GainND
ZDHHC17-
-
-
-
3GainND
ZFC3H1-
-
-
-
3GainND
ZFP2-
-
-
-
3GainND
ZFP36L2-
-
-
-
1LossND
ZFP62-
-
-
-
3GainND
ZFR-
-
-
-
3GainND
ZFYVE16-
-
-
-
3GainND
ZFYVE26p.R226C
Missense
SNP
0.455
2-ND
ZMAT2-
-
-
-
3GainND
ZNF10-
-
-
-
3GainND
ZNF100-
-
-
-
1LossND
ZNF107p.K395N
Missense
SNP
0.409
2-ND
ZNF131-
-
-
-
3GainND
ZNF14-
-
-
-
1LossND
ZNF140-
-
-
-
3GainND
ZNF208-
-
-
-
1LossND
ZNF236-
-
-
-
3GainND
ZNF24-
-
-
-
3GainND
ZNF253-
-
-
-
1LossND
ZNF257-
-
-
-
1LossND
ZNF26-
-
-
-
3GainND
ZNF268-
-
-
-
3GainND
ZNF281p.A579T
Missense
SNP
0.443
2-ND
ZNF300-
-
-
-
3GainND
ZNF346-
-
-
-
3GainND
ZNF354A-
-
-
-
3GainND
ZNF354B-
-
-
-
3GainND
ZNF354C-
-
-
-
3GainND
ZNF362p.D308N
Missense
SNP
0.312
2-ND
ZNF366-
-
-
-
3GainND
ZNF384-
-
-
-
3GainND
ZNF385A-
-
-
-
3GainND
ZNF396-
-
-
-
3GainND
ZNF397-
-
-
-
3GainND
ZNF407-
-
-
-
3GainND
ZNF423p.T753M
p.R417W
Missense
Missense
SNP
SNP
0.482
0.505
2-ND
ZNF429-
-
-
-
1LossND
ZNF43-
-
-
-
1LossND
ZNF430-
-
-
-
1LossND
ZNF431-
-
-
-
1LossND
ZNF454-
-
-
-
3GainND
ZNF474-
-
-
-
3GainND
ZNF486-
-
-
-
1LossND
ZNF492-
-
-
-
1LossND
ZNF493-
-
-
-
1LossND
ZNF506-
-
-
-
1LossND
ZNF516-
-
-
-
3GainND
ZNF519-
-
-
-
3GainND
ZNF521-
-
-
-
3GainND
ZNF532-
-
-
-
3GainND
ZNF536p.R803W
Missense
SNP
0.473
2-ND
ZNF605-
-
-
-
3GainND
ZNF608-
-
-
-
3GainND
ZNF622-
-
-
-
3GainND
ZNF626-
-
-
-
1LossND
ZNF641-
-
-
-
3GainND
ZNF66-
-
-
-
1LossND
ZNF664-
-
-
-
3GainND
ZNF675-
-
-
-
1LossND
ZNF676-
-
-
-
1LossND
ZNF681-
-
-
-
1LossND
ZNF682-
-
-
-
1LossND
ZNF705A-
-
-
-
3GainND
ZNF708-
-
-
-
1LossND
ZNF714-
-
-
-
1LossND
ZNF723-
-
-
-
1LossND
ZNF724-
-
-
-
1LossND
ZNF726-
-
-
-
1LossND
ZNF728-
-
-
-
1LossND
ZNF729-
-
-
-
1LossND
ZNF730-
-
-
-
1LossND
ZNF737-
-
-
-
1LossND
ZNF738-
-
-
-
1LossND
ZNF740-
-
-
-
3GainND
ZNF776p.R258H
Missense
SNP
0.457
2-ND
ZNF808p.R802H
Missense
SNP
0.452
2-ND
ZNF831p.V501I
Missense
SNP
0.511
2-ND
ZNF835p.R81Q
Missense
SNP
0.453
2-ND
ZNF84-
-
-
-
3GainND
ZNF85-
-
-
-
1LossND
ZNF879-
-
-
-
3GainND
ZNF891-
-
-
-
3GainND
ZNF90-
-
-
-
1LossND
ZNF91-
-
-
-
1LossND
ZNF93-
-
-
-
1LossND
ZNF98-
-
-
-
1LossND
ZNF99-
-
-
-
1LossND
ZRANB3p.R169C
Missense
SNP
0.479
2-ND
ZSCAN29p.D356N
Missense
SNP
0.485
2-ND
ZSCAN30-
-
-
-
3GainND
ZSWIM6-
-
-
-
3GainND