PDMR-174316~266-R~AD8I91NB6E05-P3

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
AAAS-
-
-
-
1Loss-
AACS-
-
-
-
1Loss-
AAK1p.L948P
Missense
SNP
0.273
1Loss-
AAMP-
-
-
-
3Gain-
ABCA12p.L1311F
Missense
SNP
0.775
3Gain-
ABCA5p.K1402R
Missense
SNP
0.445
2--
ABCA7-
-
-
-
1Loss-
ABCB11-
-
-
-
3Gain-
ABCB6p.W360*
Nonsense
MNP
0.735
3Gain-
ABCB9-
-
-
-
1Loss-
ABCC12p.G847S
Missense
SNP
0.518
2--
ABCC2-
-
-
-
1Loss-
ABCC9p.L1140Q
Missense
SNP
0.338
1Loss-
ABCD2-
-
-
-
1Loss-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD1-
-
-
-
1Loss-
ABHD10-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD5p.P286F
Missense
MNP
0.471
2--
ABHD8-
-
-
-
1Loss-
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
3Gain-
ABI3BP-
-
-
-
1Loss-
ABLIM1-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB1-
-
-
-
1Loss-
AC002985.1-
-
-
-
1Loss-
AC002996.1-
-
-
-
1Loss-
AC005041.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006030.1-
-
-
-
1Loss-
AC006064.6-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC007040.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC007240.1-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008012.1-
-
-
-
1Loss-
AC008073.3-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC009336.2-
-
-
-
3Gain-
AC010197.2-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011448.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011604.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012531.2-
-
-
-
1Loss-
AC013717.1-
-
-
-
1Loss-
AC017083.3-
-
-
-
1Loss-
AC021660.3-
-
-
-
1Loss-
AC022335.1-
-
-
-
1Loss-
AC022400.6-
-
-
-
1Loss-
AC023055.1-
-
-
-
1Loss-
AC023509.3-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC026786.1-
-
-
-
1Loss-
AC034102.2-
-
-
-
1Loss-
AC048338.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC068547.1-
-
-
-
3Gain-
AC068775.1-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
3Gain-
AC068946.2-
-
-
-
3Gain-
AC069444.2-
-
-
-
1Loss-
AC069503.2-
-
-
-
1Loss-
AC073082.1-
-
-
-
1Loss-
AC073283.3-
-
-
-
1Loss-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
1Loss-
AC079447.1-
-
-
-
3Gain-
AC083800.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092111.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092587.1-
-
-
-
3Gain-
AC093899.2-
-
-
-
3Gain-
AC097104.1-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC108488.2-
-
-
-
1Loss-
AC109829.1p.P98S
Missense
SNP
0.652
NDND-
AC112128.1-
-
-
-
1Loss-
AC112229.3-
-
-
-
3Gain-
AC117378.1-
-
-
-
1Loss-
AC119396.1-
-
-
-
1Loss-
AC131097.2-
-
-
-
3Gain-
AC137834.1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACB-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACAD11-
-
-
-
1Loss-
ACAD9-
-
-
-
1Loss-
ACADL-
-
-
-
3Gain-
ACADS-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACKR3-
-
-
-
3Gain-
ACKR4-
-
-
-
1Loss-
ACMSDp.R59C
Missense
SNP
0.164
3Gain-
ACOXL-
-
-
-
3Gain-
ACP1-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACP6p.V404A
Missense
SNP
0.490
2--
ACPP-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSL3-
-
-
-
3Gain-
ACSL5-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS3-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTG2p.L350F
Missense
SNP
0.632
1Loss-
ACTL9-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR1B-
-
-
-
3Gain-
ACTR2-
-
-
-
1Loss-
ACTR3-
-
-
-
3Gain-
ACTR6-
-
-
-
1Loss-
ACVR1-
-
-
-
3Gain-
ACVR1B-
-
-
-
1Loss-
ACVR1C-
-
-
-
3Gain-
ACVR2A-
-
-
-
3Gain-
ACVRL1-
-
-
-
1Loss-
ACYP2-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM17-
-
-
-
1Loss-
ADAM23-
-
-
-
3Gain-
ADAM29p.P486S
Missense
SNP
0.452
2--
ADAM8-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS12-
-
-
-
4Gain-
ADAMTS14-
-
-
-
1Loss-
ADAMTS16-
-
-
-
4Gain-
ADAMTS2p.R213C
Missense
SNP
0.760
2--
ADAMTS20p.P1071L
Missense
SNP
0.288
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADARB2-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCY10p.P1054S
Missense
SNP
0.442
2--
ADCY2-
-
-
-
4Gain-
ADCY3-
-
-
-
1Loss-
ADCY4p.G188E
Missense
SNP
0.491
2--
ADCY5-
-
-
-
1Loss-
ADCY6-
-
-
-
1Loss-
ADCY8p.E999K
Missense
SNP
0.459
2--
ADCYAP1-
-
-
-
1Loss-
ADD2-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGBp.E1067K
Missense
SNP
0.453
2--
ADGRA1-
-
-
-
1Loss-
ADGRD1p.N437S
Missense
SNP
0.642
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRF3-
-
-
-
1Loss-
ADGRG7-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADGRV1p.M523I
p.R3494T
Missense
Missense
SNP
SNP
0.735
0.282
2--
ADI1-
-
-
-
1Loss-
ADIPOR2-
-
-
-
1Loss-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADPRH-
-
-
-
1Loss-
ADRA2A-
-
-
-
1Loss-
ADRA2B-
-
-
-
3Gain-
ADRB1-
-
-
-
1Loss-
AEBP2-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF3-
-
-
-
3Gain-
AFG3L2-
-
-
-
1Loss-
AFTPH-
-
-
-
1Loss-
AGAP1-
-
-
-
3Gain-
AGAP2-
-
-
-
1Loss-
AGAP4-
-
-
-
1Loss-
AGAP5-
-
-
-
1Loss-
AGAP6-
-
-
-
1Loss-
AGAP9-
-
-
-
1Loss-
AGBL5-
-
-
-
1Loss-
AGFG1-
-
-
-
3Gain-
AGO2p.S189F
p.P155S
Missense
Missense
SNP
SNP
0.392
0.418
2--
AGPS-
-
-
-
3Gain-
AGXT-
-
-
-
3Gain-
AGXT2-
-
-
-
4Gain-
AHRR-
-
-
-
3Gain-
AICDA-
-
-
-
1Loss-
AIFM2-
-
-
-
1Loss-
AKAIN1-
-
-
-
1Loss-
AKAP3-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKNAp.D29N
Missense
SNP
0.503
2--
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1E2-
-
-
-
1Loss-
AL021546.1-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
ALCAM-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1L1-
-
-
-
1Loss-
ALDH1L2-
-
-
-
1Loss-
ALDH2-
-
-
-
1Loss-
ALG10-
-
-
-
1Loss-
ALG10B-
-
-
-
1Loss-
ALG1L-
-
-
-
1Loss-
ALG1L2-
-
-
-
1Loss-
ALK-
-
-
-
1Loss-
ALKAL2-
-
-
-
1Loss-
ALKBH2-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALLC-
-
-
-
1Loss-
ALMS1p.S1601F
Missense
SNP
0.652
1Loss-
ALOX5-
-
-
-
1Loss-
ALPG-
-
-
-
3Gain-
ALPI-
-
-
-
3Gain-
ALPK2p.W2067*
Nonsense
SNP
0.819
1Loss-
ALPP-
-
-
-
3Gain-
ALS2-
-
-
-
3Gain-
ALS2CR12-
-
-
-
3Gain-
ALX1-
-
-
-
1Loss-
AMACR-
-
-
-
4Gain-
AMDHD1-
-
-
-
1Loss-
AMER3-
-
-
-
3Gain-
AMHp.G433S
Missense
SNP
0.678
1Loss-
AMHR2-
-
-
-
1Loss-
AMIGO2-
-
-
-
1Loss-
AMMECR1L-
-
-
-
3Gain-
AMN1-
-
-
-
1Loss-
AMOTL2-
-
-
-
1Loss-
ANAPC1-
-
-
-
3Gain-
ANAPC13-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC5-
-
-
-
1Loss-
ANAPC7-
-
-
-
1Loss-
ANGPTL4-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8p.V119M
Missense
SNP
0.656
1Loss-
ANHX-
-
-
-
1Loss-
ANK2p.S274F
Missense
SNP
0.473
2--
ANK3-
-
-
-
1Loss-
ANKARp.L940F
Missense
SNP
0.794
3Gain-
ANKH-
-
-
-
4Gain-
ANKHD1-EIF4EBP3p.L655F
Missense
SNP
0.601
2--
ANKLE1-
-
-
-
1Loss-
ANKLE2-
-
-
-
1Loss-
ANKMY1-
-
-
-
3Gain-
ANKRD1-
-
-
-
1Loss-
ANKRD12-
-
-
-
1Loss-
ANKRD13A-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD23-
-
-
-
3Gain-
ANKRD24-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD27p.L383F
Missense
SNP
0.413
2--
ANKRD29-
-
-
-
1Loss-
ANKRD30Ap.H1168Y
Missense
SNP
0.629
1Loss-
ANKRD30B-
-
-
-
1Loss-
ANKRD30BL-
-
-
-
3Gain-
ANKRD33-
-
-
-
1Loss-
ANKRD33B-
-
-
-
4Gain-
ANKRD35p.P763S
Missense
SNP
0.512
2--
ANKRD36-
-
-
-
3Gain-
ANKRD39-
-
-
-
3Gain-
ANKRD44-
-
-
-
3Gain-
ANKRD52-
-
-
-
1Loss-
ANKRD53-
-
-
-
1Loss-
ANKRD62-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANKZF1-
-
-
-
3Gain-
ANO2-
-
-
-
1Loss-
ANO4-
-
-
-
1Loss-
ANO6-
-
-
-
1Loss-
ANO7-
-
-
-
3Gain-
ANO8p.G1001E
Missense
SNP
0.325
1Loss-
ANP32D-
-
-
-
1Loss-
ANTXR1-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA11-
-
-
-
1Loss-
ANXA2R-
-
-
-
4Gain-
ANXA4-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AOX1-
-
-
-
3Gain-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP1S3-
-
-
-
3Gain-
AP3D1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
APAF1-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1IP-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1-
-
-
-
1Loss-
APCSp.W127*
Nonsense
SNP
0.445
2--
APLFp.P419S
Missense
SNP
0.351
1Loss-
APOB-
-
-
-
1Loss-
APOBEC1-
-
-
-
1Loss-
APOF-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APPL2-
-
-
-
1Loss-
AQP12A-
-
-
-
3Gain-
AQP12B-
-
-
-
3Gain-
AQP2-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
ARF3-
-
-
-
1Loss-
ARFGEF3p.X368_splice
Splice_Site
SNP
0.631
2--
ARGFX-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP15-
-
-
-
3Gain-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP21p.L1281M
Missense
SNP
0.355
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP25-
-
-
-
1Loss-
ARHGAP28-
-
-
-
1Loss-
ARHGAP31-
-
-
-
1Loss-
ARHGAP39p.E314V
Missense
SNP
0.467
2--
ARHGAP45-
-
-
-
1Loss-
ARHGAP9-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF25-
-
-
-
1Loss-
ARHGEF33-
-
-
-
1Loss-
ARHGEF4-
-
-
-
3Gain-
ARID2-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID5A-
-
-
-
3Gain-
ARID5B-
-
-
-
1Loss-
ARL1-
-
-
-
1Loss-
ARL13B-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4C-
-
-
-
3Gain-
ARL5A-
-
-
-
3Gain-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
1Loss-
ARL6IP4-
-
-
-
1Loss-
ARL6IP6-
-
-
-
3Gain-
ARMC1p.P28S
Missense
SNP
0.486
2--
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC6-
-
-
-
1Loss-
ARMC9-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNTL2-
-
-
-
1Loss-
ARPC2-
-
-
-
3Gain-
ARPC3-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP2p.K222E
Missense
SNP
0.636
1Loss-
ASB1-
-
-
-
3Gain-
ASB13-
-
-
-
1Loss-
ASB18-
-
-
-
3Gain-
ASB3-
-
-
-
1Loss-
ASB8-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASIC1-
-
-
-
1Loss-
ASIC4-
-
-
-
3Gain-
ASNA1-
-
-
-
1Loss-
ASNSD1-
-
-
-
3Gain-
ASPHD1p.G85K
Missense
MNP
0.445
2--
ASPRV1-
-
-
-
1Loss-
ASTE1-
-
-
-
1Loss-
ASTL-
-
-
-
3Gain-
ASTN2p.S157L
Missense
SNP
0.446
2--
ASUNp.D417N
Missense
SNP
0.519
NDND-
ASXL2-
-
-
-
1Loss-
ASXL3-
-
-
-
1Loss-
ATAD1p.G63R
Missense
SNP
0.714
1Loss-
ATAD2B-
-
-
-
1Loss-
ATAD3Ap.Y559H
Missense
SNP
0.205
2--
ATCAY-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF1-
-
-
-
1Loss-
ATF2p.P496L
Missense
SNP
0.685
3Gain-
ATF7-
-
-
-
1Loss-
ATF7IPp.H1132Y
Missense
SNP
0.301
1Loss-
ATG101-
-
-
-
1Loss-
ATG16L1-
-
-
-
3Gain-
ATG3-
-
-
-
1Loss-
ATG4B-
-
-
-
3Gain-
ATG4D-
-
-
-
1Loss-
ATG9A-
-
-
-
3Gain-
ATIC-
-
-
-
3Gain-
ATL2-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOH8-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP23-
-
-
-
1Loss-
ATP2A2-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2C1-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1B-
-
-
-
1Loss-
ATP5F1C-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5MC2-
-
-
-
1Loss-
ATP5MC3-
-
-
-
3Gain-
ATP5MD-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
1Loss-
ATP6V1A-
-
-
-
1Loss-
ATP6V1B1-
-
-
-
1Loss-
ATP6V1C2-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2p.R537K
Missense
SNP
0.462
2--
ATP8B3-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATRp.L1707F
Missense
SNP
0.490
2--
ATRAID-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN2-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
1Loss-
AUP1-
-
-
-
1Loss-
AURKBp.P204_K216del
In_Frame_Del
DEL
0.190
2--
AVIL-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
1Loss-
AXLp.G864R
Missense
SNP
0.505
2--
AZU1-
-
-
-
1Loss-
B3GALT1-
-
-
-
3Gain-
B3GNT2-
-
-
-
1Loss-
B3GNT3-
-
-
-
1Loss-
B3GNT4-
-
-
-
1Loss-
B3GNT7-
-
-
-
3Gain-
B3GNT9p.G296R
Missense
SNP
0.552
2--
B4GALNT1-
-
-
-
1Loss-
B4GALNT3-
-
-
-
1Loss-
B4GALT4-
-
-
-
1Loss-
B4GALT6-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BABAM2-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAMBI-
-
-
-
1Loss-
BARD1-
-
-
-
3Gain-
BASP1-
-
-
-
4Gain-
BAZ2A-
-
-
-
1Loss-
BAZ2B-
-
-
-
3Gain-
BBIP1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS5-
-
-
-
3Gain-
BBXp.N656I
Missense
SNP
1.000
1Loss-
BCAMp.X627_splice
Splice_Site
SNP
0.579
2--
BCAT1-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCL11A-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L11-
-
-
-
3Gain-
BCL2L14-
-
-
-
1Loss-
BCL6p.Y58H
Missense
SNP
0.494
2--
BCL7A-
-
-
-
1Loss-
BCS1L-
-
-
-
3Gain-
BEND7-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BEST3-
-
-
-
1Loss-
BFSP2-
-
-
-
1Loss-
BHLHE41-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BICDL1-
-
-
-
1Loss-
BIN1-
-
-
-
3Gain-
BIN2-
-
-
-
1Loss-
BIRC3p.E478K
Missense
SNP
0.469
2--
BIRC6-
-
-
-
1Loss-
BIRC8p.P203S
Missense
SNP
0.538
2--
BLNK-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BMI1-
-
-
-
1Loss-
BMP10-
-
-
-
1Loss-
BMP5p.P263L
Missense
SNP
0.425
2--
BMPR1A-
-
-
-
1Loss-
BMPR2-
-
-
-
3Gain-
BMS1-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BOC-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
3Gain-
BOLA3-
-
-
-
1Loss-
BOLL-
-
-
-
3Gain-
BORCS5-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPIp.G257E
Missense
SNP
0.497
2--
BRAP-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRD9-
-
-
-
4Gain-
BRI3BP-
-
-
-
1Loss-
BRIX1-
-
-
-
4Gain-
BRSK1p.P457L
Missense
SNP
0.441
2--
BSG-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD11-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD9p.R62*
Nonsense
SNP
0.468
2--
BTG1-
-
-
-
1Loss-
BTLA-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUB1p.P322L
Missense
SNP
0.220
3Gain-
BUB3-
-
-
-
1Loss-
BZW1-
-
-
-
3Gain-
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf54p.D61N
Missense
SNP
0.299
NDND-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf84p.R26K
Missense
SNP
0.493
NDND-
C12orf10-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf4-
-
-
-
1Loss-
C12orf40-
-
-
-
1Loss-
C12orf42-
-
-
-
1Loss-
C12orf43-
-
-
-
1Loss-
C12orf45-
-
-
-
1Loss-
C12orf49-
-
-
-
1Loss-
C12orf50-
-
-
-
1Loss-
C12orf54-
-
-
-
1Loss-
C12orf56-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60p.M184Nfs*14
Frame_Shift_Del
DEL
0.670
1Loss-
C12orf65-
-
-
-
1Loss-
C12orf66-
-
-
-
1Loss-
C12orf71-
-
-
-
1Loss-
C12orf73-
-
-
-
1Loss-
C12orf75-
-
-
-
1Loss-
C12orf76-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1D-
-
-
-
1Loss-
C1GALT1C1L-
-
-
-
1Loss-
C1QL2-
-
-
-
3Gain-
C1QL3-
-
-
-
1Loss-
C1QL4-
-
-
-
1Loss-
C1QTNF3-
-
-
-
4Gain-
C1QTNF3-AMACR-
-
-
-
4Gain-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD5-
-
-
-
1Loss-
C2CD6-
-
-
-
3Gain-
C2orf15-
-
-
-
3Gain-
C2orf16-
-
-
-
1Loss-
C2orf40-
-
-
-
3Gain-
C2orf42-
-
-
-
1Loss-
C2orf49-
-
-
-
3Gain-
C2orf50-
-
-
-
1Loss-
C2orf66-
-
-
-
3Gain-
C2orf68-
-
-
-
1Loss-
C2orf69-
-
-
-
3Gain-
C2orf70-
-
-
-
1Loss-
C2orf72-
-
-
-
3Gain-
C2orf73-
-
-
-
1Loss-
C2orf74-
-
-
-
1Loss-
C2orf76-
-
-
-
3Gain-
C2orf78-
-
-
-
1Loss-
C2orf80-
-
-
-
3Gain-
C2orf81-
-
-
-
1Loss-
C2orf83-
-
-
-
3Gain-
C2orf88-
-
-
-
3Gain-
C2orf91-
-
-
-
1Loss-
C3-
-
-
-
1Loss-
C3AR1-
-
-
-
1Loss-
C3orf22-
-
-
-
1Loss-
C3orf30-
-
-
-
1Loss-
C3orf52-
-
-
-
1Loss-
C3orf56-
-
-
-
1Loss-
C3orf85-
-
-
-
1Loss-
C5orf22-
-
-
-
4Gain-
C5orf34-
-
-
-
4Gain-
C5orf38-
-
-
-
4Gain-
C5orf49-
-
-
-
4Gain-
C5orf51-
-
-
-
4Gain-
C6p.K859T
Missense
SNP
0.886
4Gain-
C6orf132p.P97F
Missense
MNP
0.462
2--
C7-
-
-
-
4Gain-
C8orf34p.E436K
Missense
SNP
0.390
2--
C9-
-
-
-
4Gain-
CAB39-
-
-
-
3Gain-
CABCOCO1-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABP1-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1C-
-
-
-
1Loss-
CACNA2D4-
-
-
-
1Loss-
CACNB2-
-
-
-
1Loss-
CACNB3-
-
-
-
1Loss-
CACNB4-
-
-
-
3Gain-
CACTIN-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CAD-
-
-
-
1Loss-
CADM2p.X170_splice
Splice_Site
SNP
0.383
2--
CALCOCO1-
-
-
-
1Loss-
CALCRL-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM2-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CALY-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMKK2-
-
-
-
1Loss-
CAMKMT-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAND1p.P1002S
Missense
SNP
0.345
1Loss-
CAPG-
-
-
-
1Loss-
CAPN10-
-
-
-
3Gain-
CAPN13-
-
-
-
1Loss-
CAPN14-
-
-
-
1Loss-
CAPRIN2-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPSL-
-
-
-
4Gain-
CAPZA3-
-
-
-
1Loss-
CARD6-
-
-
-
4Gain-
CARF-
-
-
-
3Gain-
CARM1-
-
-
-
1Loss-
CARMIL2p.G1150E
Missense
SNP
0.496
2--
CASC1-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASP10-
-
-
-
3Gain-
CASP14-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP8p.E170*
Nonsense
SNP
0.844
3Gain-
CASR-
-
-
-
1Loss-
CATIP-
-
-
-
3Gain-
CATSPERBp.P880Q
Missense
SNP
0.321
2--
CATSPERD-
-
-
-
1Loss-
CAVIN2-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBLp.P596S
Missense
SNP
0.441
2--
CBLB-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBWD2-
-
-
-
3Gain-
CBX5-
-
-
-
1Loss-
CC2D1A-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC121-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC127-
-
-
-
3Gain-
CCDC130-
-
-
-
1Loss-
CCDC136p.E7K
Missense
SNP
0.406
2--
CCDC138-
-
-
-
3Gain-
CCDC14-
-
-
-
1Loss-
CCDC140-
-
-
-
3Gain-
CCDC141-
-
-
-
3Gain-
CCDC142-
-
-
-
1Loss-
CCDC148-
-
-
-
3Gain-
CCDC15p.P594S
Missense
SNP
0.488
2--
CCDC150-
-
-
-
3Gain-
CCDC151-
-
-
-
1Loss-
CCDC152-
-
-
-
4Gain-
CCDC159-
-
-
-
1Loss-
CCDC168p.G4294R
p.S2307L
Missense
Missense
SNP
SNP
0.507
0.454
2--
CCDC172-
-
-
-
1Loss-
CCDC173-
-
-
-
3Gain-
CCDC178-
-
-
-
1Loss-
CCDC184-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC191-
-
-
-
1Loss-
CCDC194-
-
-
-
1Loss-
CCDC3-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC53p.D164N
Missense
SNP
0.640
NDND-
CCDC54-
-
-
-
1Loss-
CCDC58-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC60-
-
-
-
1Loss-
CCDC62-
-
-
-
1Loss-
CCDC63-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC74A-
-
-
-
3Gain-
CCDC77p.K273N
Missense
SNP
0.686
1Loss-
CCDC80-
-
-
-
1Loss-
CCDC85A-
-
-
-
1Loss-
CCDC88Ap.E416K
Missense
SNP
0.275
1Loss-
CCDC91-
-
-
-
1Loss-
CCDC92-
-
-
-
1Loss-
CCDC93-
-
-
-
3Gain-
CCER1-
-
-
-
1Loss-
CCL20-
-
-
-
3Gain-
CCL25-
-
-
-
1Loss-
CCL28-
-
-
-
4Gain-
CCND2-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNT1-
-
-
-
1Loss-
CCNT2-
-
-
-
3Gain-
CCNY-
-
-
-
1Loss-
CCNYL1-
-
-
-
3Gain-
CCSER2-
-
-
-
1Loss-
CCT2-
-
-
-
1Loss-
CCT4-
-
-
-
1Loss-
CCT5-
-
-
-
4Gain-
CCT7-
-
-
-
1Loss-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD2p.G114E
Missense
SNP
0.849
2--
CD200-
-
-
-
1Loss-
CD200R1-
-
-
-
1Loss-
CD200R1L-
-
-
-
1Loss-
CD207-
-
-
-
1Loss-
CD209-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD27-
-
-
-
1Loss-
CD28-
-
-
-
3Gain-
CD302-
-
-
-
3Gain-
CD320-
-
-
-
1Loss-
CD4-
-
-
-
1Loss-
CD47-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD80-
-
-
-
1Loss-
CD86-
-
-
-
1Loss-
CD8A-
-
-
-
1Loss-
CD8B-
-
-
-
1Loss-
CD8B2-
-
-
-
3Gain-
CD9-
-
-
-
1Loss-
CD96-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC42EP3-
-
-
-
1Loss-
CDCA3-
-
-
-
1Loss-
CDCA7-
-
-
-
3Gain-
CDH10-
-
-
-
4Gain-
CDH12-
-
-
-
4Gain-
CDH15p.R812Q
Missense
SNP
0.485
2--
CDH18-
-
-
-
4Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH23-
-
-
-
1Loss-
CDH6-
-
-
-
4Gain-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
4Gain-
CDHR1p.V507G
Missense
SNP
0.378
1Loss-
CDK1-
-
-
-
1Loss-
CDK15-
-
-
-
3Gain-
CDK17-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK2AP1-
-
-
-
1Loss-
CDK4-
-
-
-
1Loss-
CDK5R2-
-
-
-
3Gain-
CDK9p.E68K
Missense
SNP
0.417
2--
CDKL4-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN2Ap.R80*
Nonsense
SNP
0.984
2--
CDKN2D-
-
-
-
1Loss-
CDNF-
-
-
-
1Loss-
CDV3-
-
-
-
1Loss-
CEACAM19p.E70K
Missense
SNP
0.456
2--
CEACAM20p.P571S
Missense
SNP
0.433
2--
CEBPZ-
-
-
-
1Loss-
CEBPZOS-
-
-
-
1Loss-
CELA1-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CENPA-
-
-
-
1Loss-
CENPO-
-
-
-
1Loss-
CEP192-
-
-
-
1Loss-
CEP290-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CEP63-
-
-
-
1Loss-
CEP68-
-
-
-
1Loss-
CEP72-
-
-
-
3Gain-
CEP76-
-
-
-
1Loss-
CEP78p.P627S
Missense
SNP
0.526
2--
CEP83-
-
-
-
1Loss-
CEP97-
-
-
-
1Loss-
CERKL-
-
-
-
3Gain-
CERS1-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CERS5-
-
-
-
1Loss-
CERS6-
-
-
-
3Gain-
CES4Ap.W461*
Nonsense
SNP
0.493
2--
CETN1-
-
-
-
1Loss-
CFAP100-
-
-
-
1Loss-
CFAP221-
-
-
-
3Gain-
CFAP36-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP44-
-
-
-
1Loss-
CFAP46-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54p.Q3037H
Missense
SNP
0.667
1Loss-
CFAP58-
-
-
-
1Loss-
CFAP65-
-
-
-
3Gain-
CFAP70-
-
-
-
1Loss-
CFAP73-
-
-
-
1Loss-
CFC1-
-
-
-
3Gain-
CFC1B-
-
-
-
3Gain-
CFD-
-
-
-
1Loss-
CFLAR-
-
-
-
3Gain-
CGREF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAC2-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAMP1p.P363L
Missense
SNP
0.472
2--
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD5-
-
-
-
3Gain-
CHCHD6-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHFR-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP3-
-
-
-
1Loss-
CHN1-
-
-
-
3Gain-
CHN2p.G62R
p.L410V
Missense
Missense
SNP
SNP
0.357
0.480
2--
CHPF-
-
-
-
3Gain-
CHPT1-
-
-
-
1Loss-
CHRM2p.L154F
Missense
SNP
0.323
2--
CHRNA1-
-
-
-
3Gain-
CHRNB4p.P161S
Missense
SNP
0.351
2--
CHRND-
-
-
-
3Gain-
CHRNG-
-
-
-
3Gain-
CHST10-
-
-
-
3Gain-
CHST11-
-
-
-
1Loss-
CHST13-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CIAO1-
-
-
-
3Gain-
CIB3-
-
-
-
1Loss-
CIB4-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIP2A-
-
-
-
1Loss-
CIR1-
-
-
-
3Gain-
CIRBP-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CIT-
-
-
-
1Loss-
CKAP2L-
-
-
-
3Gain-
CKAP4-
-
-
-
1Loss-
CLASP1-
-
-
-
3Gain-
CLDND1-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC4Fp.*590Qext*58
Nonstop
SNP
0.331
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLHC1-
-
-
-
1Loss-
CLIP1-
-
-
-
1Loss-
CLIP4-
-
-
-
1Loss-
CLK1-
-
-
-
3Gain-
CLLU1OS-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPTM1L-
-
-
-
4Gain-
CLRN3-
-
-
-
1Loss-
CLSTN2p.E398K
Missense
SNP
0.364
2--
CLSTN3-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CLVS2p.D43N
Missense
SNP
0.390
2--
CMAS-
-
-
-
1Loss-
CMBL-
-
-
-
4Gain-
CMKLR1-
-
-
-
1Loss-
CMPK2-
-
-
-
1Loss-
CMSS1-
-
-
-
1Loss-
CNBP-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA3-
-
-
-
3Gain-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNNM3-
-
-
-
3Gain-
CNNM4-
-
-
-
3Gain-
CNOT11-
-
-
-
3Gain-
CNOT2-
-
-
-
1Loss-
CNOT9-
-
-
-
3Gain-
CNPPD1-
-
-
-
3Gain-
CNPY2-
-
-
-
1Loss-
CNRIP1-
-
-
-
1Loss-
CNTN1-
-
-
-
1Loss-
CNTN3p.L743F
p.R674W
p.S640F
Missense
Missense
Missense
SNP
SNP
SNP
0.439
0.429
0.529
2--
CNTNAP5-
-
-
-
3Gain-
COA5-
-
-
-
3Gain-
COBLL1-
-
-
-
3Gain-
COL11A1p.P1496L
Missense
SNP
0.181
2--
COL13A1-
-
-
-
1Loss-
COL14A1p.G1722E
Missense
SNP
0.420
2--
COL17A1-
-
-
-
1Loss-
COL1A2p.V567A
p.G574S
Missense
Missense
SNP
SNP
0.471
0.443
2--
COL20A1p.E70K
p.E110K
Missense
Missense
SNP
SNP
0.467
0.397
2--
COL21A1p.K878I
Missense
SNP
0.490
2--
COL24A1p.G1429E
Missense
SNP
0.790
2--
COL2A1-
-
-
-
1Loss-
COL3A1-
-
-
-
3Gain-
COL4A3-
-
-
-
3Gain-
COL4A4-
-
-
-
3Gain-
COL5A2-
-
-
-
3Gain-
COL5A3-
-
-
-
1Loss-
COL6A3-
-
-
-
3Gain-
COL6A5-
-
-
-
1Loss-
COL6A6p.T1438I
Missense
SNP
0.948
1Loss-
COL8A1-
-
-
-
1Loss-
COLEC11-
-
-
-
1Loss-
COLEC12p.D719N
Missense
SNP
0.281
1Loss-
COLGALT1-
-
-
-
1Loss-
COMMD1-
-
-
-
1Loss-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COMTD1-
-
-
-
1Loss-
COPE-
-
-
-
1Loss-
COPG1-
-
-
-
1Loss-
COPS7A-
-
-
-
1Loss-
COPS7B-
-
-
-
3Gain-
COPS8-
-
-
-
3Gain-
COPS9-
-
-
-
3Gain-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ10B-
-
-
-
3Gain-
COQ5-
-
-
-
1Loss-
CORO1C-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX17-
-
-
-
1Loss-
COX5B-
-
-
-
3Gain-
COX6A1-
-
-
-
1Loss-
COX7A2L-
-
-
-
1Loss-
CPA6p.L214F
Missense
SNP
0.510
2--
CPAMD8p.G810S
Missense
SNP
0.595
1Loss-
CPEB3-
-
-
-
1Loss-
CPLANE1-
-
-
-
4Gain-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE4-
-
-
-
1Loss-
CPNE8-
-
-
-
1Loss-
CPO-
-
-
-
3Gain-
CPOX-
-
-
-
1Loss-
CPPED1p.Y220F
Missense
SNP
0.522
2--
CPS1p.S440F
Missense
SNP
0.694
3Gain-
CPSF3p.G18K
Missense
MNP
0.400
1Loss-
CPSF4Lp.G52E
Missense
SNP
0.517
2--
CPSF6-
-
-
-
1Loss-
CPXM2-
-
-
-
1Loss-
CRACR2A-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CREB1-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CREBL2-
-
-
-
1Loss-
CREG2-
-
-
-
3Gain-
CREM-
-
-
-
1Loss-
CRIM1-
-
-
-
1Loss-
CRIPT-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRMP1p.P334S
Missense
SNP
0.462
2--
CROCC2-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRY1p.P319S
Missense
SNP
0.662
1Loss-
CRYBA2-
-
-
-
3Gain-
CRYBG3-
-
-
-
1Loss-
CRYGA-
-
-
-
3Gain-
CRYGB-
-
-
-
3Gain-
CRYGC-
-
-
-
3Gain-
CRYGD-
-
-
-
3Gain-
CSp.S451F
Missense
SNP
0.299
1Loss-
CSAD-
-
-
-
1Loss-
CSF2RBp.G6E
p.P118S
Missense
Missense
SNP
SNP
0.798
0.742
2--
CSGALNACT2-
-
-
-
1Loss-
CSMD1p.P1122L
Missense
SNP
0.487
2--
CSMD2p.F308L
Missense
SNP
0.722
2--
CSNK1G2-
-
-
-
1Loss-
CSRNP2-
-
-
-
1Loss-
CSRNP3-
-
-
-
3Gain-
CSRP2-
-
-
-
1Loss-
CSTA-
-
-
-
1Loss-
CSTF2T-
-
-
-
1Loss-
CSTL1p.N40S
Missense
SNP
0.496
2--
CTBP2-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
3Gain-
CTDSP2-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTLA4-
-
-
-
3Gain-
CTNNA2-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNND2-
-
-
-
4Gain-
CTXN1-
-
-
-
1Loss-
CUBN-
-
-
-
1Loss-
CUEDC2-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL3-
-
-
-
3Gain-
CUL5p.P304S
Missense
SNP
0.466
2--
CUTC-
-
-
-
1Loss-
CUX2-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC22-
-
-
-
3Gain-
CWF19L1-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCR1-
-
-
-
3Gain-
CXCR2-
-
-
-
3Gain-
CXCR4-
-
-
-
3Gain-
CXXC1-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYBRD1-
-
-
-
3Gain-
CYP11B1p.P197S
Missense
SNP
0.399
2--
CYP17A1-
-
-
-
1Loss-
CYP1B1-
-
-
-
1Loss-
CYP20A1-
-
-
-
3Gain-
CYP26A1-
-
-
-
1Loss-
CYP26B1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27A1-
-
-
-
3Gain-
CYP27B1-
-
-
-
1Loss-
CYP27C1-
-
-
-
3Gain-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9p.E148K
Missense
SNP
0.662
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYS1-
-
-
-
1Loss-
CYTIP-
-
-
-
3Gain-
D2HGDH-
-
-
-
3Gain-
DAB2-
-
-
-
4Gain-
DAND5-
-
-
-
1Loss-
DAO-
-
-
-
1Loss-
DAP-
-
-
-
4Gain-
DAPK3-
-
-
-
1Loss-
DAPL1-
-
-
-
3Gain-
DARS-
-
-
-
3Gain-
DAW1-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DAZAP2-
-
-
-
1Loss-
DBI-
-
-
-
3Gain-
DBX2-
-
-
-
1Loss-
DCAF15-
-
-
-
1Loss-
DCAF17-
-
-
-
3Gain-
DCBLD2-
-
-
-
1Loss-
DCCp.R446H
p.L880H
Missense
Missense
SNP
SNP
1.000
0.818
1Loss-
DCD-
-
-
-
1Loss-
DCDC2C-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCN-
-
-
-
1Loss-
DCP1B-
-
-
-
1Loss-
DCTN1-
-
-
-
1Loss-
DCTN2-
-
-
-
1Loss-
DCUN1D4p.P277S
Missense
SNP
0.371
2--
DDA1-
-
-
-
1Loss-
DDIT3-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDN-
-
-
-
1Loss-
DDX1-
-
-
-
1Loss-
DDX11-
-
-
-
1Loss-
DDX18-
-
-
-
3Gain-
DDX21-
-
-
-
1Loss-
DDX23-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX3Xp.P40S
Missense
SNP
1.000
NDND-
DDX47-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX51-
-
-
-
1Loss-
DDX54-
-
-
-
1Loss-
DDX55p.X134_splice
p.E243K
Splice_Site
Missense
SNP
SNP
0.662
0.254
1Loss-
DDX60Lp.V280G
Missense
SNP
0.489
2--
DENND1C-
-
-
-
1Loss-
DENND2Cp.S114F
Missense
SNP
0.758
2--
DENND5Bp.I610V
Missense
SNP
0.547
1Loss-
DENR-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DERA-
-
-
-
1Loss-
DES-
-
-
-
3Gain-
DGKA-
-
-
-
1Loss-
DGKBp.D528N
Missense
SNP
0.523
2--
DGKDp.L1076F
Missense
SNP
0.820
3Gain-
DGUOK-
-
-
-
1Loss-
DHFR2-
-
-
-
1Loss-
DHH-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS9-
-
-
-
3Gain-
DHTKD1-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX37-
-
-
-
1Loss-
DHX57-
-
-
-
1Loss-
DHX58p.S585L
Missense
SNP
0.404
2--
DIABLO-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DIP2C-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIRAS3p.R108W
Missense
SNP
0.778
2--
DIRC1-
-
-
-
3Gain-
DIRC2-
-
-
-
1Loss-
DIS3L2-
-
-
-
3Gain-
DISP1p.R547C
Missense
SNP
0.500
2--
DKK1-
-
-
-
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP1p.S503F
Missense
SNP
0.254
1Loss-
DLX1-
-
-
-
3Gain-
DLX2-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMRT2p.D298N
Missense
SNP
0.470
2--
DNA2-
-
-
-
1Loss-
DNAH10-
-
-
-
1Loss-
DNAH5-
-
-
-
4Gain-
DNAH6-
-
-
-
1Loss-
DNAH7-
-
-
-
3Gain-
DNAH8p.E2071Kfs*28
Frame_Shift_Del
DEL
0.462
2--
DNAJB1-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB2-
-
-
-
3Gain-
DNAJB8-
-
-
-
1Loss-
DNAJC1-
-
-
-
1Loss-
DNAJC10-
-
-
-
3Gain-
DNAJC12-
-
-
-
1Loss-
DNAJC13-
-
-
-
1Loss-
DNAJC14-
-
-
-
1Loss-
DNAJC21-
-
-
-
4Gain-
DNAJC22-
-
-
-
1Loss-
DNAJC27-
-
-
-
1Loss-
DNAJC5G-
-
-
-
1Loss-
DNAJC9-
-
-
-
1Loss-
DNASE1L3p.P142L
Missense
SNP
0.511
2--
DNASE2-
-
-
-
1Loss-
DNASE2Bp.I221N
Missense
SNP
0.738
2--
DNER-
-
-
-
3Gain-
DNM1p.E167K
Missense
SNP
0.456
2--
DNM1L-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DNMT3A-
-
-
-
1Loss-
DNPEP-
-
-
-
3Gain-
DNTT-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
3Gain-
DOCK6-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK1-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPP10-
-
-
-
3Gain-
DPP4-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPPA2-
-
-
-
1Loss-
DPPA3-
-
-
-
1Loss-
DPPA4-
-
-
-
1Loss-
DPY19L2-
-
-
-
1Loss-
DPY30-
-
-
-
1Loss-
DPYSp.G62E
Missense
SNP
0.479
2--
DPYSL4-
-
-
-
1Loss-
DPYSL5-
-
-
-
1Loss-
DQX1-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRC1-
-
-
-
1Loss-
DRD3-
-
-
-
1Loss-
DRG2p.A22T
Missense
SNP
0.443
2--
DRGX-
-
-
-
1Loss-
DROSHA-
-
-
-
4Gain-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSELp.I697M
Missense
SNP
0.884
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DTD1p.T38S
Missense
SNP
0.510
2--
DTNA-
-
-
-
1Loss-
DTNB-
-
-
-
1Loss-
DTX1-
-
-
-
1Loss-
DTX3-
-
-
-
1Loss-
DTX3L-
-
-
-
1Loss-
DTYMK-
-
-
-
3Gain-
DUPD1-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUSP11-
-
-
-
1Loss-
DUSP13-
-
-
-
1Loss-
DUSP16-
-
-
-
1Loss-
DUSP19-
-
-
-
3Gain-
DUSP2-
-
-
-
3Gain-
DUSP28-
-
-
-
3Gain-
DUSP5-
-
-
-
1Loss-
DUSP6-
-
-
-
1Loss-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1I2-
-
-
-
3Gain-
DYNC2LI1-
-
-
-
1Loss-
DYNLL1-
-
-
-
1Loss-
DYRK2-
-
-
-
1Loss-
DYRK4-
-
-
-
1Loss-
DYSF-
-
-
-
1Loss-
DYTN-
-
-
-
3Gain-
DZIP3-
-
-
-
1Loss-
E2F6-
-
-
-
1Loss-
E2F7-
-
-
-
1Loss-
EAF2-
-
-
-
1Loss-
EBF2p.P58S
Missense
SNP
0.341
2--
EBF3-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
ECEL1-
-
-
-
3Gain-
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
ECSIT-
-
-
-
1Loss-
EDAR-
-
-
-
3Gain-
EDRF1p.E390K
Missense
SNP
0.326
1Loss-
EEA1-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
1Loss-
EEF1B2-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EEFSEC-
-
-
-
1Loss-
EFCAB12-
-
-
-
1Loss-
EFCC1-
-
-
-
1Loss-
EFEMP1-
-
-
-
1Loss-
EFHD1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFR3B-
-
-
-
1Loss-
EGFp.Q1112*
Nonsense
SNP
0.446
2--
EGFLAM-
-
-
-
4Gain-
EGR2-
-
-
-
1Loss-
EGR4-
-
-
-
1Loss-
EHBP1-
-
-
-
1Loss-
EHD3-
-
-
-
1Loss-
EID3-
-
-
-
1Loss-
EIF2AK2-
-
-
-
1Loss-
EIF2AK3-
-
-
-
1Loss-
EIF2B1-
-
-
-
1Loss-
EIF2B4-
-
-
-
1Loss-
EIF2S3B-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF4B-
-
-
-
1Loss-
EIF4E2-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
1Loss-
EIF5AL1-
-
-
-
1Loss-
EIF5B-
-
-
-
3Gain-
EIPR1-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELK3-
-
-
-
1Loss-
ELL-
-
-
-
1Loss-
ELMOD3-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELOVL3-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELSPBP1p.G163R
Missense
SNP
0.449
2--
EMG1-
-
-
-
1Loss-
EMILIN1-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EML4-
-
-
-
1Loss-
EML5p.D728N
Missense
SNP
0.411
2--
EML6-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
EMX1-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
EN1-
-
-
-
3Gain-
ENDOU-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENO2-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENPEPp.K754R
Missense
SNP
0.496
2--
ENPP2p.P899S
Missense
SNP
0.563
2--
ENTPD1-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EP400p.P44L
Missense
SNP
0.278
1Loss-
EPAS1-
-
-
-
1Loss-
EPB41L3-
-
-
-
1Loss-
EPB41L5-
-
-
-
3Gain-
EPC1-
-
-
-
1Loss-
EPC2-
-
-
-
3Gain-
EPCAM-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA4p.Q156*
Nonsense
SNP
0.155
3Gain-
EPHA6-
-
-
-
1Loss-
EPHB1-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPS15L1-
-
-
-
1Loss-
EPS8-
-
-
-
1Loss-
EPYC-
-
-
-
1Loss-
ERBB3-
-
-
-
1Loss-
ERBB4-
-
-
-
3Gain-
ERBINp.S274L
Missense
SNP
0.768
2--
ERC1-
-
-
-
1Loss-
ERCC3-
-
-
-
3Gain-
ERCC6-
-
-
-
1Loss-
ERFE-
-
-
-
3Gain-
ERGIC2-
-
-
-
1Loss-
ERICH2-
-
-
-
3Gain-
ERICH3p.E1129K
p.S282F
Missense
Missense
SNP
SNP
0.286
0.195
2--
ERLEC1-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERMN-
-
-
-
3Gain-
ERP27-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ESPL1-
-
-
-
1Loss-
ESPNL-
-
-
-
3Gain-
ESYT1-
-
-
-
1Loss-
ETAA1-
-
-
-
1Loss-
ETFBKMT-
-
-
-
1Loss-
ETFRF1-
-
-
-
1Loss-
ETNK1-
-
-
-
1Loss-
ETV6-
-
-
-
1Loss-
EVA1A-
-
-
-
1Loss-
EVI5L-
-
-
-
1Loss-
EVX2-
-
-
-
3Gain-
EXOC3-
-
-
-
3Gain-
EXOC6-
-
-
-
1Loss-
EXOC6B-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EYA4p.P235T
Missense
SNP
0.460
2--
EYSp.W3018*
Nonsense
SNP
0.527
2--
F2RL3-
-
-
-
1Loss-
FABP1-
-
-
-
1Loss-
FAHD2B-
-
-
-
3Gain-
FAIM2-
-
-
-
1Loss-
FAM107B-
-
-
-
1Loss-
FAM110C-
-
-
-
1Loss-
FAM117B-
-
-
-
3Gain-
FAM124B-
-
-
-
3Gain-
FAM126B-
-
-
-
3Gain-
FAM129C-
-
-
-
1Loss-
FAM136A-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM151Ap.V31L
Missense
SNP
0.769
2--
FAM160B1-
-
-
-
1Loss-
FAM161A-
-
-
-
1Loss-
FAM162A-
-
-
-
1Loss-
FAM168B-
-
-
-
3Gain-
FAM169Bp.A51T
Missense
SNP
0.462
2--
FAM170B-
-
-
-
1Loss-
FAM171A1p.S68L
Missense
SNP
0.327
1Loss-
FAM171B-
-
-
-
3Gain-
FAM173B-
-
-
-
4Gain-
FAM178B-
-
-
-
3Gain-
FAM184Ap.M510T
Missense
SNP
0.531
2--
FAM186A-
-
-
-
1Loss-
FAM186B-
-
-
-
1Loss-
FAM188Ap.K64R
Missense
SNP
0.495
NDND-
FAM19A2-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM210A-
-
-
-
1Loss-
FAM216A-
-
-
-
1Loss-
FAM21Cp.Q937*
Nonsense
SNP
0.372
NDND-
FAM222A-
-
-
-
1Loss-
FAM228A-
-
-
-
1Loss-
FAM228B-
-
-
-
1Loss-
FAM234B-
-
-
-
1Loss-
FAM237A-
-
-
-
3Gain-
FAM241B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM45A-
-
-
-
1Loss-
FAM46Dp.E119K
Missense
SNP
1.000
NDND-
FAM49A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71C-
-
-
-
1Loss-
FAM84A-
-
-
-
1Loss-
FAM98A-
-
-
-
1Loss-
FANCL-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAP-
-
-
-
3Gain-
FAR2-
-
-
-
1Loss-
FARP2-
-
-
-
3Gain-
FARSA-
-
-
-
1Loss-
FARSB-
-
-
-
3Gain-
FAS-
-
-
-
1Loss-
FASTKD1-
-
-
-
3Gain-
FASTKD2-
-
-
-
3Gain-
FASTKD3-
-
-
-
4Gain-
FAT2p.I2574del
In_Frame_Del
DEL
0.725
2--
FAT4p.D2747N
Missense
SNP
0.496
2--
FBH1-
-
-
-
1Loss-
FBLN7p.D100N
Missense
SNP
0.112
3Gain-
FBN3-
-
-
-
1Loss-
FBRSL1-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL14-
-
-
-
1Loss-
FBXL15-
-
-
-
1Loss-
FBXL7-
-
-
-
4Gain-
FBXO11-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO16p.W219*
Nonsense
SNP
0.467
2--
FBXO21-
-
-
-
1Loss-
FBXO36-
-
-
-
3Gain-
FBXO4-
-
-
-
4Gain-
FBXO40-
-
-
-
1Loss-
FBXO41-
-
-
-
1Loss-
FBXO48-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW8-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCER2-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FDX2-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FER1L5p.H107Y
Missense
SNP
0.167
3Gain-
FEV-
-
-
-
3Gain-
FEZ2-
-
-
-
1Loss-
FFAR4-
-
-
-
1Loss-
FGD4-
-
-
-
1Loss-
FGD6-
-
-
-
1Loss-
FGF10-
-
-
-
4Gain-
FGF22-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF6-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGFR3p.Y375C
Missense
SNP
0.500
2--
FHL2-
-
-
-
3Gain-
FHOD3-
-
-
-
1Loss-
FICD-
-
-
-
1Loss-
FIGLA-
-
-
-
1Loss-
FIGN-
-
-
-
3Gain-
FIGNL2-
-
-
-
1Loss-
FILIP1Lp.A915V
Missense
SNP
0.806
1Loss-
FKBP11-
-
-
-
1Loss-
FKBP1B-
-
-
-
1Loss-
FKBP4-
-
-
-
1Loss-
FKBP7-
-
-
-
3Gain-
FKBP8-
-
-
-
1Loss-
FLYWCH1p.P208S
Missense
SNP
0.471
2--
FMNL2-
-
-
-
3Gain-
FMNL3-
-
-
-
1Loss-
FN1-
-
-
-
3Gain-
FNDC4-
-
-
-
1Loss-
FO681492.1-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOSL2-
-
-
-
1Loss-
FOXD4L1-
-
-
-
3Gain-
FOXI2-
-
-
-
1Loss-
FOXI3-
-
-
-
1Loss-
FOXJ2-
-
-
-
1Loss-
FOXM1-
-
-
-
1Loss-
FOXN2-
-
-
-
1Loss-
FOXN4-
-
-
-
1Loss-
FPGT-TNNI3Kp.S196A
Missense
SNP
0.227
2--
FRA10AC1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM2p.R3007Q
Missense
SNP
0.467
2--
FRG2B-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD5p.Y29N
Missense
SNP
0.386
2--
FRMPD2-
-
-
-
1Loss-
FRS2-
-
-
-
1Loss-
FRS3p.D348Y
Missense
SNP
0.353
2--
FRYLp.P72S
Missense
SNP
0.522
2--
FRZB-
-
-
-
3Gain-
FSCBp.P460S
p.T420I
p.S177*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.541
0.504
0.512
2--
FSD1-
-
-
-
1Loss-
FSHR-
-
-
-
1Loss-
FSIP2-
-
-
-
3Gain-
FSTL1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL5p.E66K
Missense
SNP
0.497
2--
FTCDNL1-
-
-
-
3Gain-
FUOM-
-
-
-
1Loss-
FUT11-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT9p.D228N
Missense
SNP
0.439
2--
FXYD4-
-
-
-
1Loss-
FYB1-
-
-
-
4Gain-
FZD10-
-
-
-
1Loss-
FZD5-
-
-
-
3Gain-
FZD7-
-
-
-
3Gain-
FZD8-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G6PC2-
-
-
-
3Gain-
GABARAPL1-
-
-
-
1Loss-
GABRR3-
-
-
-
1Loss-
GAD1-
-
-
-
3Gain-
GAD2-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GAL3ST2-
-
-
-
3Gain-
GALM-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT11p.I214Nfs*2
Frame_Shift_Ins
INS
0.315
2--
GALNT13-
-
-
-
3Gain-
GALNT14-
-
-
-
1Loss-
GALNT3-
-
-
-
3Gain-
GALNT5-
-
-
-
3Gain-
GALNT6-
-
-
-
1Loss-
GALNT8-
-
-
-
1Loss-
GALNT9-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAP43-
-
-
-
1Loss-
GAPDH-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GAREM2-
-
-
-
1Loss-
GAS2L3-
-
-
-
1Loss-
GATA2-
-
-
-
1Loss-
GATA3-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GATC-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBX2-
-
-
-
3Gain-
GCp.E431K
Missense
SNP
0.435
2--
GCA-
-
-
-
3Gain-
GCC2-
-
-
-
3Gain-
GCDH-
-
-
-
1Loss-
GCFC2-
-
-
-
1Loss-
GCG-
-
-
-
3Gain-
GCKR-
-
-
-
1Loss-
GCN1-
-
-
-
1Loss-
GCSAM-
-
-
-
1Loss-
GDF1-
-
-
-
1Loss-
GDF10-
-
-
-
1Loss-
GDF11-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDF7-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GDNF-
-
-
-
4Gain-
GEMIN6-
-
-
-
1Loss-
GEMIN8p.A41V
Missense
SNP
1.000
NDND-
GEN1-
-
-
-
1Loss-
GFPT1-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GGCX-
-
-
-
1Loss-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
4Gain-
GIGYF2-
-
-
-
3Gain-
GIN1p.N360S
Missense
SNP
0.730
2--
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GIT2-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GKN1-
-
-
-
1Loss-
GKN2-
-
-
-
1Loss-
GLB1L-
-
-
-
3Gain-
GLI1-
-
-
-
1Loss-
GLI2-
-
-
-
3Gain-
GLIPR1-
-
-
-
1Loss-
GLIPR1L1-
-
-
-
1Loss-
GLIPR1L2-
-
-
-
1Loss-
GLOD4p.P5L
Missense
SNP
0.420
2--
GLRX3-
-
-
-
1Loss-
GLS-
-
-
-
3Gain-
GLS2-
-
-
-
1Loss-
GLT1D1-
-
-
-
1Loss-
GLT8D2-
-
-
-
1Loss-
GLTP-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GMCL1-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GMPPA-
-
-
-
3Gain-
GNA11-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAL-
-
-
-
1Loss-
GNB3-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNLY-
-
-
-
1Loss-
GNPTABp.V1086I
Missense
SNP
0.200
1Loss-
GNS-
-
-
-
1Loss-
GOLGA3-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGB1p.R319K
Missense
SNP
0.980
1Loss-
GOLPH3-
-
-
-
4Gain-
GOLT1B-
-
-
-
1Loss-
GORASP2-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GP9-
-
-
-
1Loss-
GPAM-
-
-
-
1Loss-
GPAT3p.G377E
Missense
SNP
0.457
2--
GPATCH11-
-
-
-
1Loss-
GPBAR1-
-
-
-
3Gain-
GPC1-
-
-
-
3Gain-
GPD1-
-
-
-
1Loss-
GPD2-
-
-
-
3Gain-
GPN1-
-
-
-
1Loss-
GPN3-
-
-
-
1Loss-
GPR1-
-
-
-
3Gain-
GPR108-
-
-
-
1Loss-
GPR148-
-
-
-
3Gain-
GPR15-
-
-
-
1Loss-
GPR155-
-
-
-
3Gain-
GPR156-
-
-
-
1Loss-
GPR158-
-
-
-
1Loss-
GPR162-
-
-
-
1Loss-
GPR17-
-
-
-
3Gain-
GPR182-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR26-
-
-
-
1Loss-
GPR35-
-
-
-
3Gain-
GPR39-
-
-
-
3Gain-
GPR45-
-
-
-
3Gain-
GPR55-
-
-
-
3Gain-
GPR75-
-
-
-
1Loss-
GPR75-ASB3-
-
-
-
1Loss-
GPR84-
-
-
-
1Loss-
GPRC5A-
-
-
-
1Loss-
GPRC5D-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX5p.P80S
Missense
SNP
0.527
2--
GRAMD1C-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB14-
-
-
-
3Gain-
GREB1-
-
-
-
1Loss-
GRHL1-
-
-
-
1Loss-
GRID1-
-
-
-
1Loss-
GRIN2B-
-
-
-
1Loss-
GRIN2Cp.W369*
Nonsense
SNP
0.399
2--
GRIN3Ap.P912S
Missense
SNP
0.554
2--
GRIN3B-
-
-
-
1Loss-
GRIP1-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GSG1-
-
-
-
1Loss-
GSK3B-
-
-
-
1Loss-
GSTM5p.G143R
Missense
SNP
0.234
2--
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GTDC1-
-
-
-
3Gain-
GTF2A1L-
-
-
-
1Loss-
GTF2E1-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2H3-
-
-
-
1Loss-
GTF3C2-
-
-
-
1Loss-
GTF3C3-
-
-
-
3Gain-
GTPBP3-
-
-
-
1Loss-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
1Loss-
GTSF1-
-
-
-
1Loss-
GUCA1C-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GULP1-
-
-
-
3Gain-
GXYLT1-
-
-
-
1Loss-
GYPC-
-
-
-
3Gain-
GYS2-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1FNT-
-
-
-
1Loss-
H1FOO-
-
-
-
1Loss-
H1FX-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H3F3C-
-
-
-
1Loss-
HAAO-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
1Loss-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAO1p.E120K
Missense
SNP
0.475
2--
HAPLN4-
-
-
-
1Loss-
HAT1-
-
-
-
3Gain-
HAUS1-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HCAR1-
-
-
-
1Loss-
HCAR2-
-
-
-
1Loss-
HCAR3-
-
-
-
1Loss-
HCFC2-
-
-
-
1Loss-
HCLS1-
-
-
-
1Loss-
HCN1-
-
-
-
4Gain-
HCN2-
-
-
-
1Loss-
HDAC4-
-
-
-
3Gain-
HDAC5p.S226F
Missense
SNP
0.394
2--
HDAC7-
-
-
-
1Loss-
HDGFL2-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDLBP-
-
-
-
3Gain-
HEATR4p.G340R
Missense
SNP
0.467
2--
HEATR5B-
-
-
-
1Loss-
HEBP1-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECTD4p.S234L
Missense
SNP
0.652
1Loss-
HECW2-
-
-
-
3Gain-
HEG1-
-
-
-
1Loss-
HELB-
-
-
-
1Loss-
HELLS-
-
-
-
1Loss-
HELZp.Q1511*
Nonsense
SNP
0.426
2--
HERC2p.E323Q
Missense
SNP
0.612
2--
HERC4-
-
-
-
1Loss-
HES6-
-
-
-
3Gain-
HGD-
-
-
-
1Loss-
HGFACp.G32R
Missense
SNP
0.427
2--
HHEX-
-
-
-
1Loss-
HHLA2-
-
-
-
1Loss-
HIBCH-
-
-
-
3Gain-
HIF1AN-
-
-
-
1Loss-
HIGD1C-
-
-
-
1Loss-
HIP1R-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
4Gain-
HIST2H2AA4-
-
-
-
4Gain-
HIST2H2BF-
-
-
-
4Gain-
HIST2H3A-
-
-
-
4Gain-
HIST2H3C-
-
-
-
4Gain-
HIST2H3D-
-
-
-
4Gain-
HIST2H4A-
-
-
-
4Gain-
HIST2H4B-
-
-
-
4Gain-
HIST4H4-
-
-
-
1Loss-
HJURP-
-
-
-
3Gain-
HK1-
-
-
-
1Loss-
HK2-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HLA-DQB2p.P151L
Missense
SNP
0.441
2--
HLA-DRAp.I238F
Missense
SNP
0.432
2--
HLXp.P8L
Missense
SNP
0.522
2--
HMCES-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMGA2-
-
-
-
1Loss-
HMGCS1-
-
-
-
4Gain-
HMSD-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1A-
-
-
-
1Loss-
HNMT-
-
-
-
3Gain-
HNRNPA1-
-
-
-
1Loss-
HNRNPA3-
-
-
-
3Gain-
HNRNPF-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPKp.P254L
Missense
SNP
0.378
2--
HNRNPLL-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HNRNPUL1p.A362S
Missense
SNP
0.441
2--
HOGA1-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOOK1p.R288K
Missense
SNP
0.617
2--
HOOK2-
-
-
-
1Loss-
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HOXD1-
-
-
-
3Gain-
HOXD10-
-
-
-
3Gain-
HOXD11-
-
-
-
3Gain-
HOXD12-
-
-
-
3Gain-
HOXD13-
-
-
-
3Gain-
HOXD3-
-
-
-
3Gain-
HOXD4-
-
-
-
3Gain-
HOXD8-
-
-
-
3Gain-
HOXD9-
-
-
-
3Gain-
HPCAL1-
-
-
-
1Loss-
HPD-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HRH4-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS1BP3-
-
-
-
1Loss-
HS6ST1-
-
-
-
3Gain-
HSBP1L1-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD17B6-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSP90B1-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPB8-
-
-
-
1Loss-
HSPBAP1-
-
-
-
1Loss-
HSPD1-
-
-
-
3Gain-
HSPE1-
-
-
-
3Gain-
HSPE1-MOB4-
-
-
-
3Gain-
HTR2B-
-
-
-
3Gain-
HTR3Ep.X94_splice
Splice_Site
SNP
0.422
2--
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA2-
-
-
-
1Loss-
HUWE1p.V3587E
Missense
SNP
0.923
NDND-
HVCN1-
-
-
-
1Loss-
HYDINp.E4601K
p.E3785K
Missense
Missense
SNP
SNP
0.373
0.573
2--
IAH1-
-
-
-
1Loss-
IAPP-
-
-
-
1Loss-
ICA1L-
-
-
-
3Gain-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5p.R10Q
Missense
SNP
0.247
1Loss-
ICE1-
-
-
-
4Gain-
ICOS-
-
-
-
3Gain-
ID2-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDH1-
-
-
-
3Gain-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDUAp.Q63*
Nonsense
SNP
0.481
2--
IER2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFFO1-
-
-
-
1Loss-
IFI30-
-
-
-
1Loss-
IFIH1-
-
-
-
3Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFNG-
-
-
-
1Loss-
IFT122-
-
-
-
1Loss-
IFT172-
-
-
-
1Loss-
IFT57-
-
-
-
1Loss-
IFT81-
-
-
-
1Loss-
IGDCC3p.D713N
Missense
SNP
0.456
2--
IGF1-
-
-
-
1Loss-
IGFBP2-
-
-
-
3Gain-
IGFBP5-
-
-
-
3Gain-
IGFBP6-
-
-
-
1Loss-
IGHV2-26p.S91F
Missense
SNP
0.494
NDND-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33-
-
-
-
1Loss-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGSF11-
-
-
-
1Loss-
IGSF22p.P802T
Missense
SNP
0.463
2--
IGSF3p.R654P
Missense
SNP
0.633
2--
IHH-
-
-
-
3Gain-
IKBIP-
-
-
-
1Loss-
IKBKAPp.E740K
Missense
SNP
0.397
NDND-
IKZF2-
-
-
-
3Gain-
IKZF4-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL17Bp.G18E
Missense
SNP
0.713
2--
IL17RCp.Q383Rfs*50
Frame_Shift_Del
DEL
0.464
2--
IL17RDp.G718A
Missense
SNP
0.449
2--
IL18R1-
-
-
-
3Gain-
IL18RAP-
-
-
-
3Gain-
IL1A-
-
-
-
3Gain-
IL1B-
-
-
-
3Gain-
IL1F10-
-
-
-
3Gain-
IL1R1-
-
-
-
3Gain-
IL1R2-
-
-
-
3Gain-
IL1RL1-
-
-
-
3Gain-
IL1RL2-
-
-
-
3Gain-
IL1RN-
-
-
-
3Gain-
IL22-
-
-
-
1Loss-
IL23A-
-
-
-
1Loss-
IL26-
-
-
-
1Loss-
IL27p.G121R
Missense
SNP
0.383
2--
IL27RA-
-
-
-
1Loss-
IL2RA-
-
-
-
1Loss-
IL31-
-
-
-
1Loss-
IL36A-
-
-
-
3Gain-
IL36B-
-
-
-
3Gain-
IL36G-
-
-
-
3Gain-
IL36RN-
-
-
-
3Gain-
IL37-
-
-
-
3Gain-
IL7R-
-
-
-
4Gain-
ILDR1-
-
-
-
1Loss-
ILF3-
-
-
-
1Loss-
ILKAP-
-
-
-
3Gain-
ILVBL-
-
-
-
1Loss-
IMMT-
-
-
-
1Loss-
IMP4p.E74K
Missense
SNP
0.191
3Gain-
IMPA2-
-
-
-
1Loss-
IMPACTp.L77P
Missense
SNP
1.000
1Loss-
IMPG2-
-
-
-
1Loss-
INA-
-
-
-
1Loss-
INCENPp.R333C
Missense
SNP
0.497
2--
ING3p.P162S
Missense
SNP
0.525
2--
ING4-
-
-
-
1Loss-
ING5-
-
-
-
3Gain-
INHA-
-
-
-
3Gain-
INHBB-
-
-
-
3Gain-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INO80Bp.S192F
Missense
SNP
0.697
1Loss-
INO80B-WBP1-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INO80D-
-
-
-
3Gain-
INPP1-
-
-
-
3Gain-
INPP4A-
-
-
-
3Gain-
INPP5A-
-
-
-
1Loss-
INPP5D-
-
-
-
3Gain-
INPP5F-
-
-
-
1Loss-
INPP5Jp.S280F
Missense
SNP
0.744
2--
INSIG2-
-
-
-
3Gain-
INSL3-
-
-
-
1Loss-
INSR-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INTS13-
-
-
-
1Loss-
INTS7p.L688Ffs*13
Frame_Shift_Del
DEL
0.473
2--
IPMK-
-
-
-
1Loss-
IPO7p.L547P
Missense
SNP
0.463
2--
IPO8-
-
-
-
1Loss-
IQCA1-
-
-
-
3Gain-
IQCB1p.X470_splice
Splice_Site
SNP
1.000
1Loss-
IQCD-
-
-
-
1Loss-
IQCN-
-
-
-
1Loss-
IQGAP1p.G1342R
Missense
SNP
0.459
2--
IQSEC3-
-
-
-
1Loss-
IRAK3-
-
-
-
1Loss-
IRAK4-
-
-
-
1Loss-
IRS1-
-
-
-
3Gain-
IRX1-
-
-
-
4Gain-
IRX2-
-
-
-
4Gain-
IRX4-
-
-
-
4Gain-
ISCU-
-
-
-
1Loss-
ISY1-
-
-
-
1Loss-
ISY1-RAB43-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITFG2-
-
-
-
1Loss-
ITGA4-
-
-
-
3Gain-
ITGA5-
-
-
-
1Loss-
ITGA6-
-
-
-
3Gain-
ITGA7-
-
-
-
1Loss-
ITGA8p.K253*
Nonsense
SNP
0.295
1Loss-
ITGAVp.D379N
Missense
SNP
0.803
3Gain-
ITGB1-
-
-
-
1Loss-
ITGB1BP1-
-
-
-
1Loss-
ITGB4p.F1145I
Missense
SNP
0.463
2--
ITGB5-
-
-
-
1Loss-
ITGB6-
-
-
-
3Gain-
ITGB7-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH5p.R215H
Missense
SNP
0.405
1Loss-
ITM2C-
-
-
-
3Gain-
ITPR2-
-
-
-
1Loss-
ITPRID2-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
3Gain-
ITSN2-
-
-
-
1Loss-
IWS1-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JARID2p.G876E
Missense
SNP
0.979
2--
JCAD-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD6p.D368N
Missense
SNP
0.535
2--
JSRP1-
-
-
-
1Loss-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KALRN-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KANSL1Lp.D185V
Missense
SNP
0.192
3Gain-
KANSL2-
-
-
-
1Loss-
KANSL3-
-
-
-
3Gain-
KAT5p.R3Q
Missense
SNP
0.452
2--
KAT6B-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZNp.S389F
Missense
SNP
0.606
2--
KBTBD12-
-
-
-
1Loss-
KCMF1-
-
-
-
1Loss-
KCNA1-
-
-
-
1Loss-
KCNA5-
-
-
-
1Loss-
KCNA6-
-
-
-
1Loss-
KCNC2-
-
-
-
1Loss-
KCNE4-
-
-
-
3Gain-
KCNF1-
-
-
-
1Loss-
KCNG1p.Y40H
Missense
SNP
0.449
2--
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
1Loss-
KCNH3-
-
-
-
1Loss-
KCNH7-
-
-
-
3Gain-
KCNIP2-
-
-
-
1Loss-
KCNIP4p.M216I
Missense
SNP
0.485
2--
KCNJ13-
-
-
-
3Gain-
KCNJ3-
-
-
-
3Gain-
KCNJ8-
-
-
-
1Loss-
KCNK12-
-
-
-
1Loss-
KCNK18-
-
-
-
1Loss-
KCNK3-
-
-
-
1Loss-
KCNMA1-
-
-
-
1Loss-
KCNMB4-
-
-
-
1Loss-
KCNN1p.P86S
Missense
SNP
0.312
1Loss-
KCNQ2p.G92R
Missense
SNP
0.450
2--
KCNQ3p.P574L
Missense
SNP
0.437
2--
KCNS3-
-
-
-
1Loss-
KCTD1-
-
-
-
1Loss-
KCTD10-
-
-
-
1Loss-
KCTD18-
-
-
-
3Gain-
KDM2B-
-
-
-
1Loss-
KDM3A-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM5A-
-
-
-
1Loss-
KDM6Bp.G964E
Missense
SNP
0.972
2--
KDSR-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KERA-
-
-
-
1Loss-
KHK-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA1211L-
-
-
-
3Gain-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
1Loss-
KIAA1328-
-
-
-
1Loss-
KIAA1462p.S1123F
Missense
SNP
0.704
NDND-
KIAA1468p.R572K
Missense
SNP
0.824
NDND-
KIAA1549p.E499K
Missense
SNP
0.522
2--
KIAA1551-
-
-
-
1Loss-
KIAA1715p.E320K
Missense
SNP
0.762
NDND-
KIAA1841-
-
-
-
1Loss-
KIAA2012p.K855Q
Missense
SNP
0.108
3Gain-
KIDINS220-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF1Ap.R985C
Missense
SNP
0.212
3Gain-
KIF1BP-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF21A-
-
-
-
1Loss-
KIF3C-
-
-
-
1Loss-
KIF5A-
-
-
-
1Loss-
KIF5B-
-
-
-
1Loss-
KIF5C-
-
-
-
3Gain-
KIN-
-
-
-
1Loss-
KIR2DL3p.G64R
Missense
SNP
0.265
2--
KIR3DL1p.P432S
Missense
SNP
0.477
2--
KISS1R-
-
-
-
1Loss-
KITLG-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF11-
-
-
-
1Loss-
KLF15-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
3Gain-
KLHDC8Ap.S111N
Missense
SNP
0.468
2--
KLHL14-
-
-
-
1Loss-
KLHL23-
-
-
-
3Gain-
KLHL26-
-
-
-
1Loss-
KLHL29-
-
-
-
1Loss-
KLHL30-
-
-
-
3Gain-
KLHL33p.P199S
Missense
SNP
0.435
2--
KLHL41-
-
-
-
3Gain-
KLHL42-
-
-
-
1Loss-
KLLN-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRK1-
-
-
-
1Loss-
KMT2D-
-
-
-
1Loss-
KMT5A-
-
-
-
1Loss-
KNDC1-
-
-
-
1Loss-
KNTC1-
-
-
-
1Loss-
KPNA1-
-
-
-
1Loss-
KPNA3p.D59Ifs*13
Frame_Shift_Del
DEL
0.498
2--
KPTNp.L46F
Missense
SNP
0.379
2--
KRAS-
-
-
-
1Loss-
KRCC1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRR1-
-
-
-
1Loss-
KRT1-
-
-
-
1Loss-
KRT18-
-
-
-
1Loss-
KRT2-
-
-
-
1Loss-
KRT3-
-
-
-
1Loss-
KRT39p.Q129*
Nonsense
SNP
0.490
2--
KRT4-
-
-
-
1Loss-
KRT5p.X406_splice
p.E68K
Splice_Site
Missense
SNP
SNP
0.639
0.302
1Loss-
KRT6A-
-
-
-
1Loss-
KRT6B-
-
-
-
1Loss-
KRT6C-
-
-
-
1Loss-
KRT7-
-
-
-
1Loss-
KRT71-
-
-
-
1Loss-
KRT72-
-
-
-
1Loss-
KRT73-
-
-
-
1Loss-
KRT74-
-
-
-
1Loss-
KRT75-
-
-
-
1Loss-
KRT76-
-
-
-
1Loss-
KRT77-
-
-
-
1Loss-
KRT78-
-
-
-
1Loss-
KRT79-
-
-
-
1Loss-
KRT8-
-
-
-
1Loss-
KRT80-
-
-
-
1Loss-
KRT81-
-
-
-
1Loss-
KRT82-
-
-
-
1Loss-
KRT83-
-
-
-
1Loss-
KRT84-
-
-
-
1Loss-
KRT85-
-
-
-
1Loss-
KRT86-
-
-
-
1Loss-
KRTCAP3-
-
-
-
1Loss-
KSR2-
-
-
-
1Loss-
KXD1-
-
-
-
1Loss-
KY-
-
-
-
1Loss-
KYNU-
-
-
-
3Gain-
L3MBTL3p.G562R
Missense
SNP
0.502
2--
L3MBTL4-
-
-
-
1Loss-
LACRT-
-
-
-
1Loss-
LAG3-
-
-
-
1Loss-
LALBA-
-
-
-
1Loss-
LAMA1-
-
-
-
1Loss-
LAMA3-
-
-
-
1Loss-
LANCL1-
-
-
-
3Gain-
LAPTM4A-
-
-
-
1Loss-
LARGE2p.Q503*
Nonsense
SNP
0.472
2--
LARP4-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LAYNp.Q283*
Nonsense
SNP
0.447
2--
LBH-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LBX2-
-
-
-
1Loss-
LCLAT1-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCT-
-
-
-
3Gain-
LDAH-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHB-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LDLRAD4-
-
-
-
1Loss-
LEMD3-
-
-
-
1Loss-
LETMD1-
-
-
-
1Loss-
LGALS4p.L108V
Missense
SNP
0.539
2--
LGALSL-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGR5-
-
-
-
1Loss-
LHCGR-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LHX5-
-
-
-
1Loss-
LIFR-
-
-
-
4Gain-
LIMA1-
-
-
-
1Loss-
LIMS1-
-
-
-
3Gain-
LIMS2-
-
-
-
3Gain-
LIMS3-
-
-
-
3Gain-
LIMS3-LOC440895-
-
-
-
3Gain-
LIMS4-
-
-
-
3Gain-
LIN52p.W3*
Nonsense
SNP
0.419
2--
LIN7A-
-
-
-
1Loss-
LIN7Bp.*116Yext*?
Nonstop
SNP
0.565
2--
LINGO3-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT1-
-
-
-
3Gain-
LIPT2p.G186E
Missense
SNP
0.484
2--
LLPH-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMAN2L-
-
-
-
3Gain-
LMBR1L-
-
-
-
1Loss-
LMBRD2-
-
-
-
4Gain-
LMNB2-
-
-
-
1Loss-
LMNTD1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMTK2p.G1084D
Missense
SNP
0.491
2--
LNP1-
-
-
-
1Loss-
LNPK-
-
-
-
3Gain-
LONP1-
-
-
-
1Loss-
LONRF2-
-
-
-
3Gain-
LOXHD1-
-
-
-
1Loss-
LOXL3-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPAR5-
-
-
-
1Loss-
LPCAT1-
-
-
-
4Gain-
LPCAT3-
-
-
-
1Loss-
LPIN1-
-
-
-
1Loss-
LPIN2-
-
-
-
1Loss-
LPOp.R544K
Missense
SNP
0.431
2--
LRCH3p.L790I
Missense
SNP
0.400
2--
LRCOL1-
-
-
-
1Loss-
LRG1-
-
-
-
1Loss-
LRIG3-
-
-
-
1Loss-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRMP-
-
-
-
1Loss-
LRP1-
-
-
-
1Loss-
LRP1B-
-
-
-
3Gain-
LRP2-
-
-
-
3Gain-
LRP6-
-
-
-
1Loss-
LRPPRC-
-
-
-
1Loss-
LRRC10-
-
-
-
1Loss-
LRRC14B-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC30p.P15L
Missense
SNP
0.341
1Loss-
LRRC43-
-
-
-
1Loss-
LRRC58-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRFIP1-
-
-
-
3Gain-
LRRIQ1-
-
-
-
1Loss-
LRRK2-
-
-
-
1Loss-
LRRTM1-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRRTM4-
-
-
-
1Loss-
LRTM2-
-
-
-
1Loss-
LSAMP-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LTA4H-
-
-
-
1Loss-
LTBP1-
-
-
-
1Loss-
LTBR-
-
-
-
1Loss-
LUM-
-
-
-
1Loss-
LY75-
-
-
-
3Gain-
LY75-CD302-
-
-
-
3Gain-
LYG1-
-
-
-
3Gain-
LYG2-
-
-
-
3Gain-
LYL1-
-
-
-
1Loss-
LYPD1-
-
-
-
3Gain-
LYPD6-
-
-
-
3Gain-
LYPD6Bp.P205L
Missense
SNP
0.163
3Gain-
LYZ-
-
-
-
1Loss-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LZTS2-
-
-
-
1Loss-
M1AP-
-
-
-
1Loss-
M6PR-
-
-
-
1Loss-
MAATS1-
-
-
-
1Loss-
MAB21L4-
-
-
-
3Gain-
MADCAM1-
-
-
-
1Loss-
MAGI2p.S8F
p.S58N
Missense
Missense
SNP
SNP
0.415
0.391
2--
MAGOHB-
-
-
-
1Loss-
MAIP1-
-
-
-
3Gain-
MALL-
-
-
-
3Gain-
MALRD1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP1LC3B2-
-
-
-
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2-
-
-
-
3Gain-
MAP2K2-
-
-
-
1Loss-
MAP2K6p.P151S
Missense
SNP
0.421
2--
MAP2K7-
-
-
-
1Loss-
MAP3K12-
-
-
-
1Loss-
MAP3K19-
-
-
-
3Gain-
MAP3K2-
-
-
-
3Gain-
MAP3K20-
-
-
-
3Gain-
MAP3K8-
-
-
-
1Loss-
MAP4K3-
-
-
-
1Loss-
MAP4K4-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MAPRE3-
-
-
-
1Loss-
MARCH11-
-
-
-
4Gain-
MARCH2-
-
-
-
1Loss-
MARCH4-
-
-
-
3Gain-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
4Gain-
MARCH7-
-
-
-
3Gain-
MARCH8-
-
-
-
1Loss-
MARCH9-
-
-
-
1Loss-
MARCOp.P294S
Missense
SNP
0.790
3Gain-
MARS-
-
-
-
1Loss-
MARS2-
-
-
-
3Gain-
MARVELD1-
-
-
-
1Loss-
MAST1-
-
-
-
1Loss-
MAST3p.L103F
Missense
SNP
0.392
1Loss-
MASTL-
-
-
-
1Loss-
MAT1A-
-
-
-
1Loss-
MAT2A-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN3-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L2-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD4-
-
-
-
1Loss-
MBD5-
-
-
-
3Gain-
MBD6-
-
-
-
1Loss-
MBL2-
-
-
-
1Loss-
MBOAT2-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC2R-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
1Loss-
MCEE-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCF2Lp.D284N
Missense
SNP
0.464
2--
MCFD2-
-
-
-
1Loss-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
1Loss-
MCM6-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
MCOLN1-
-
-
-
1Loss-
MCRS1p.S121G
Missense
SNP
0.298
1Loss-
MCU-
-
-
-
1Loss-
MDH1-
-
-
-
1Loss-
MDH1B-
-
-
-
3Gain-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MED1p.P999L
Missense
SNP
0.387
2--
MED10-
-
-
-
4Gain-
MED13L-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED21-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MEIS1-
-
-
-
1Loss-
MEMO1-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
MERTK-
-
-
-
3Gain-
METAP1D-
-
-
-
3Gain-
METAP2-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL21A-
-
-
-
3Gain-
METTL25-
-
-
-
1Loss-
METTL4-
-
-
-
1Loss-
METTL5-
-
-
-
3Gain-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
METTL8-
-
-
-
3Gain-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFF-
-
-
-
3Gain-
MFSD12-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD2B-
-
-
-
1Loss-
MFSD5-
-
-
-
1Loss-
MFSD6-
-
-
-
3Gain-
MFSD9-
-
-
-
3Gain-
MGAT4A-
-
-
-
3Gain-
MGAT4C-
-
-
-
1Loss-
MGAT5-
-
-
-
3Gain-
MGLL-
-
-
-
1Loss-
MGMT-
-
-
-
1Loss-
MGP-
-
-
-
1Loss-
MGST1p.X42_splice
Splice_Site
SNP
0.634
1Loss-
MICU1-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MINDY3-
-
-
-
1Loss-
MINPP1-
-
-
-
1Loss-
MIP-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MITD1-
-
-
-
3Gain-
MITFp.R60P
Missense
SNP
0.425
2--
MKI67-
-
-
-
1Loss-
MKNK2-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLEC-
-
-
-
1Loss-
MLF2-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLPH-
-
-
-
3Gain-
MLXIP-
-
-
-
1Loss-
MMAB-
-
-
-
1Loss-
MMADHC-
-
-
-
3Gain-
MMP17-
-
-
-
1Loss-
MMP19-
-
-
-
1Loss-
MMP21-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MMS22Lp.G831R
p.T356I
Missense
Missense
SNP
SNP
0.472
0.480
2--
MOB1A-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB4-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOGAT1-
-
-
-
3Gain-
MOGS-
-
-
-
1Loss-
MON2-
-
-
-
1Loss-
MORC1-
-
-
-
1Loss-
MORN2-
-
-
-
1Loss-
MORN3-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MPHOSPH10-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPP4-
-
-
-
3Gain-
MPP7p.K196Ffs*11
Frame_Shift_Del
DEL
0.559
1Loss-
MPPE1-
-
-
-
1Loss-
MPV17-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MRAPp.L148F
Missense
SNP
0.503
2--
MRC1p.W714*
Nonsense
SNP
0.684
1Loss-
MREG-
-
-
-
3Gain-
MRI1-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2A-
-
-
-
3Gain-
MROH2B-
-
-
-
4Gain-
MRPL19-
-
-
-
1Loss-
MRPL3-
-
-
-
1Loss-
MRPL30-
-
-
-
3Gain-
MRPL33-
-
-
-
1Loss-
MRPL34-
-
-
-
1Loss-
MRPL35-
-
-
-
1Loss-
MRPL36-
-
-
-
4Gain-
MRPL4-
-
-
-
1Loss-
MRPL42-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL44-
-
-
-
3Gain-
MRPL49p.G133E
Missense
SNP
0.487
2--
MRPL51-
-
-
-
1Loss-
MRPL53-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPS16-
-
-
-
1Loss-
MRPS30-
-
-
-
4Gain-
MRPS35-
-
-
-
1Loss-
MRPS9-
-
-
-
3Gain-
MS4A14p.S410F
Missense
SNP
0.485
2--
MSGN1-
-
-
-
1Loss-
MSH2-
-
-
-
1Loss-
MSH6-
-
-
-
1Loss-
MSI1-
-
-
-
1Loss-
MSMB-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MSRB3-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MSTN-
-
-
-
3Gain-
MTA3-
-
-
-
1Loss-
MTCL1-
-
-
-
1Loss-
MTERF2-
-
-
-
1Loss-
MTERF4-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTHFD2-
-
-
-
1Loss-
MTIF2-
-
-
-
1Loss-
MTMR12p.E581I
Missense
MNP
0.771
4Gain-
MTORp.L1642F
Missense
SNP
0.597
2--
MTPAP-
-
-
-
1Loss-
MTRR-
-
-
-
4Gain-
MTX2-
-
-
-
3Gain-
MUC13-
-
-
-
1Loss-
MUC16-
-
-
-
1Loss-
MUC17p.T452I
p.G2974N
Missense
Missense
SNP
MNP
0.426
0.413
2--
MUC19-
-
-
-
1Loss-
MUC4p.D3821H
p.N3055T
Missense
Missense
SNP
SNP
0.237
0.376
2--
MUCL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MVK-
-
-
-
1Loss-
MXD1-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MYBPC1-
-
-
-
1Loss-
MYBPC2p.S255N
Missense
SNP
0.392
2--
MYCN-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH1p.M1639I
Missense
SNP
0.453
2--
MYH15-
-
-
-
1Loss-
MYH4p.S1554F
Missense
SNP
0.939
2--
MYL1-
-
-
-
3Gain-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL2-
-
-
-
1Loss-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYLK-
-
-
-
1Loss-
MYO10-
-
-
-
4Gain-
MYO16p.S473F
Missense
SNP
0.513
2--
MYO18Ap.P163S
Missense
SNP
0.476
2--
MYO18Bp.D2373N
Missense
SNP
0.739
2--
MYO1A-
-
-
-
1Loss-
MYO1B-
-
-
-
3Gain-
MYO1Ep.L909V
Missense
SNP
0.453
2--
MYO1F-
-
-
-
1Loss-
MYO1H-
-
-
-
1Loss-
MYO3A-
-
-
-
1Loss-
MYO3B-
-
-
-
3Gain-
MYO5B-
-
-
-
1Loss-
MYO6p.H548Y
Missense
SNP
0.417
2--
MYO7B-
-
-
-
3Gain-
MYO9B-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM1p.W1263*
Nonsense
SNP
0.504
1Loss-
MYOZ1-
-
-
-
1Loss-
MYPNp.G1026R
Missense
SNP
0.429
1Loss-
MYRFL-
-
-
-
1Loss-
MYT1p.S932L
p.S935F
Missense
Missense
SNP
SNP
0.383
0.380
2--
MYT1L-
-
-
-
1Loss-
MZT2A-
-
-
-
3Gain-
NAA25-
-
-
-
1Loss-
NAA50-
-
-
-
1Loss-
NAB1-
-
-
-
3Gain-
NAB2-
-
-
-
1Loss-
NABP1-
-
-
-
3Gain-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NACC1-
-
-
-
1Loss-
NADK2-
-
-
-
4Gain-
NAGK-
-
-
-
1Loss-
NAGLUp.P286L
Missense
SNP
0.451
2--
NALCNp.X1635_splice
Splice_Site
SNP
0.551
2--
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NAP1L1-
-
-
-
1Loss-
NAPG-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NAT8-
-
-
-
1Loss-
NAV3-
-
-
-
1Loss-
NBAS-
-
-
-
1Loss-
NBEAL1-
-
-
-
3Gain-
NCAM2p.E654K
Missense
SNP
0.548
2--
NCAN-
-
-
-
1Loss-
NCAPD2-
-
-
-
1Loss-
NCAPH-
-
-
-
3Gain-
NCK2-
-
-
-
3Gain-
NCKAP1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
1Loss-
NCKAP5-
-
-
-
3Gain-
NCKAP5Lp.T816Ffs*24
p.Q217*
Frame_Shift_Del
Nonsense
DEL
SNP
0.237
0.594
1Loss-
NCL-
-
-
-
3Gain-
NCLN-
-
-
-
1Loss-
NCOA1-
-
-
-
1Loss-
NCOA3p.P612F
Missense
MNP
0.467
2--
NCOA4-
-
-
-
1Loss-
NCOR1p.L200F
Missense
SNP
0.992
2--
NCOR2p.G2081R
Missense
SNP
0.415
1Loss-
NDC80-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDUFA10-
-
-
-
3Gain-
NDUFA11-
-
-
-
1Loss-
NDUFA12-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA4L2-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFA9-
-
-
-
1Loss-
NDUFAF7-
-
-
-
1Loss-
NDUFB4-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFS1-
-
-
-
3Gain-
NDUFS6-
-
-
-
4Gain-
NDUFS7p.P137S
Missense
SNP
0.354
1Loss-
NDUFV2-
-
-
-
1Loss-
NEB-
-
-
-
3Gain-
NEBL-
-
-
-
1Loss-
NECAP1-
-
-
-
1Loss-
NECTIN3-
-
-
-
1Loss-
NEDD1-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEGR1p.G270R
Missense
SNP
0.218
2--
NEK11-
-
-
-
1Loss-
NELL2-
-
-
-
1Loss-
NEMP1-
-
-
-
1Loss-
NEMP2-
-
-
-
3Gain-
NEPRO-
-
-
-
1Loss-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEU2-
-
-
-
3Gain-
NEU4-
-
-
-
3Gain-
NEURL1-
-
-
-
1Loss-
NEURL3-
-
-
-
3Gain-
NEUROD1-
-
-
-
3Gain-
NEUROD4-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NF1p.M799T
Missense
SNP
0.477
2--
NFATC1-
-
-
-
1Loss-
NFE2-
-
-
-
1Loss-
NFE2L2-
-
-
-
3Gain-
NFIC-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIDp.P23S
Missense
SNP
0.449
2--
NFKBIZ-
-
-
-
1Loss-
NFU1-
-
-
-
1Loss-
NFYB-
-
-
-
1Loss-
NGEF-
-
-
-
3Gain-
NHEJ1-
-
-
-
3Gain-
NHLRC2-
-
-
-
1Loss-
NID2p.T1033I
Missense
SNP
0.338
2--
NIF3L1-
-
-
-
3Gain-
NIFK-
-
-
-
3Gain-
NIM1K-
-
-
-
4Gain-
NINJ2-
-
-
-
1Loss-
NIPBL-
-
-
-
4Gain-
NIT2-
-
-
-
1Loss-
NKD2-
-
-
-
4Gain-
NKX1-2-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLRC4-
-
-
-
1Loss-
NLRP10p.P539S
Missense
SNP
0.493
2--
NLRP11p.P826S
Missense
SNP
0.522
2--
NLRP13p.D699N
Missense
SNP
0.485
2--
NLRP2p.S85F
Missense
SNP
0.518
2--
NLRP8p.Q624L
Missense
SNP
0.466
2--
NMI-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMS-
-
-
-
3Gain-
NMT2-
-
-
-
1Loss-
NMUp.P126R
Missense
SNP
0.423
2--
NMUR1-
-
-
-
3Gain-
NNT-
-
-
-
4Gain-
NOC3L-
-
-
-
1Loss-
NOC4L-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOL10-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NONOp.Q284L
Missense
SNP
0.576
NDND-
NOP2-
-
-
-
1Loss-
NOP58-
-
-
-
3Gain-
NOS1-
-
-
-
1Loss-
NOSTRIN-
-
-
-
3Gain-
NOTCH1p.S1889F
p.Q1547*
Missense
Nonsense
SNP
SNP
0.400
0.378
2--
NOTCH3p.T612I
Missense
SNP
0.351
1Loss-
NOTO-
-
-
-
1Loss-
NOTUMp.L249R
Missense
SNP
0.460
2--
NOX3p.T192Sfs*79
Frame_Shift_Del
DEL
0.444
2--
NPAP1p.P1014S
Missense
SNP
0.521
2--
NPAS2-
-
-
-
3Gain-
NPC1-
-
-
-
3Gain-
NPFF-
-
-
-
1Loss-
NPFFR1-
-
-
-
1Loss-
NPHP1-
-
-
-
3Gain-
NPHP3-
-
-
-
1Loss-
NPHP3-ACAD11-
-
-
-
1Loss-
NPM3-
-
-
-
1Loss-
NPPC-
-
-
-
3Gain-
NPR3-
-
-
-
4Gain-
NPS-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NR1H4-
-
-
-
1Loss-
NR1I2-
-
-
-
1Loss-
NR2C1-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR4A1-
-
-
-
1Loss-
NR4A2-
-
-
-
3Gain-
NRAP-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRBP1-
-
-
-
1Loss-
NRCAMp.E1211K
Missense
SNP
0.487
2--
NRG3-
-
-
-
1Loss-
NRIP1-
-
-
-
1LossNRIP1--SAMSN1
NRIP2-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRP2-
-
-
-
3Gain-
NRSN1p.E99D
Missense
SNP
1.000
2--
NRTN-
-
-
-
1Loss-
NRXN1-
-
-
-
1Loss-
NSFp.K687N
Missense
SNP
0.545
2--
NSMCE4A-
-
-
-
1Loss-
NSRP1p.L540M
Missense
SNP
0.477
2--
NSUN2-
-
-
-
4Gain-
NSUN3-
-
-
-
1Loss-
NSUN6-
-
-
-
1Loss-
NT5C1B-
-
-
-
1Loss-
NT5C1B-RDH14-
-
-
-
1Loss-
NT5C2-
-
-
-
1Loss-
NT5DC3-
-
-
-
1Loss-
NT5DC4-
-
-
-
3Gain-
NTF3-
-
-
-
1Loss-
NTN4-
-
-
-
1Loss-
NTS-
-
-
-
1Loss-
NTSR2-
-
-
-
1Loss-
NUAK1-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT16-
-
-
-
1Loss-
NUDT4-
-
-
-
1Loss-
NUDT5-
-
-
-
1Loss-
NUP107-
-
-
-
1Loss-
NUP155p.P1002S
Missense
SNP
0.160
4Gain-
NUP35-
-
-
-
3Gain-
NUP37-
-
-
-
1Loss-
NUTM2D-
-
-
-
1Loss-
NWD1-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXPE3-
-
-
-
1Loss-
NXPH2-
-
-
-
3Gain-
NXPH4-
-
-
-
1Loss-
NYAP2-
-
-
-
3Gain-
OAS1-
-
-
-
1Loss-
OAS2-
-
-
-
1Loss-
OAS3-
-
-
-
1Loss-
OASL-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OBSL1p.D803N
Missense
SNP
0.167
3Gain-
OCEL1-
-
-
-
1Loss-
ODC1-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OGFOD2-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLA1-
-
-
-
3Gain-
OLAH-
-
-
-
1Loss-
OLFM2-
-
-
-
1Loss-
OLFML2Bp.D590N
Missense
SNP
0.449
2--
OLR1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPN4-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10A7-
-
-
-
1Loss-
OR10AD1-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10P1p.P311S
Missense
SNP
0.664
1Loss-
OR10Q1p.M41I
Missense
SNP
0.476
2--
OR11G2p.S205F
Missense
SNP
0.422
2--
OR13A1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR2AP1-
-
-
-
1Loss-
OR2Z1-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4D11p.R310K
Missense
SNP
0.503
2--
OR4F17-
-
-
-
1Loss-
OR4K13p.S53L
Missense
SNP
0.458
2--
OR51B4p.G254R
Missense
SNP
0.457
2--
OR5AC2-
-
-
-
1Loss-
OR5BS1P-
-
-
-
1Loss-
OR5H1-
-
-
-
1Loss-
OR5H14-
-
-
-
1Loss-
OR5H15-
-
-
-
1Loss-
OR5H2-
-
-
-
1Loss-
OR5H6-
-
-
-
1Loss-
OR5K1-
-
-
-
1Loss-
OR5K2-
-
-
-
1Loss-
OR5K3-
-
-
-
1Loss-
OR5K4-
-
-
-
1Loss-
OR6B2-
-
-
-
3Gain-
OR6B3-
-
-
-
3Gain-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8B2p.D70N
Missense
SNP
0.528
2--
OR8S1-
-
-
-
1Loss-
OR9K2-
-
-
-
1Loss-
ORAI1-
-
-
-
1Loss-
ORC2-
-
-
-
3Gain-
ORC4-
-
-
-
3Gain-
ORMDL1-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBPL11-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSBPL6p.Q931R
Missense
SNP
0.148
3Gain-
OSBPL8-
-
-
-
1Loss-
OSGEPL1-
-
-
-
3Gain-
OSMR-
-
-
-
4Gain-
OSR1-
-
-
-
1Loss-
OST4-
-
-
-
1Loss-
OTOF-
-
-
-
1Loss-
OTOGp.P674L
Missense
SNP
0.452
2--
OTOGL-
-
-
-
1Loss-
OTOS-
-
-
-
3Gain-
OTUD1-
-
-
-
1Loss-
OTULIN-
-
-
-
4Gain-
OTULINL-
-
-
-
4Gain-
OTX1-
-
-
-
1Loss-
OVCH1-
-
-
-
1Loss-
OXCT1-
-
-
-
4Gain-
OXER1-
-
-
-
1Loss-
OXLD1p.P83S
Missense
SNP
0.529
2--
P2RX2-
-
-
-
1Loss-
P2RX4-
-
-
-
1Loss-
P2RX7-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
P3H3-
-
-
-
1Loss-
P4HA1-
-
-
-
1Loss-
PA2G4-
-
-
-
1Loss-
PAH-
-
-
-
1Loss-
PAIP1-
-
-
-
4Gain-
PAIP2B-
-
-
-
1Loss-
PAK2p.R450G
Missense
SNP
1.000
2--
PAK5p.E294K
Missense
SNP
0.404
2--
PALD1-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PAN2-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK2p.P58L
Missense
SNP
0.466
2--
PAOX-
-
-
-
1Loss-
PAPOLG-
-
-
-
1Loss-
PAPSS2-
-
-
-
1Loss-
PARD3-
-
-
-
1Loss-
PARD3B-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARG-
-
-
-
1Loss-
PARP11-
-
-
-
1Loss-
PARP14-
-
-
-
1Loss-
PARP15-
-
-
-
1Loss-
PARP9p.P802L
Missense
SNP
1.000
1Loss-
PARPBP-
-
-
-
1Loss-
PASK-
-
-
-
3Gain-
PAWR-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX3-
-
-
-
3Gain-
PAX8-
-
-
-
3Gain-
PBLD-
-
-
-
1Loss-
PBX4-
-
-
-
1Loss-
PCARE-
-
-
-
1Loss-
PCBD1-
-
-
-
1Loss-
PCBP1-
-
-
-
1Loss-
PCBP2-
-
-
-
1Loss-
PCDH11Xp.G1069R
Missense
SNP
0.995
NDND-
PCDH15p.P515L
Missense
SNP
0.544
1Loss-
PCDH17p.E138K
p.G399S
Missense
Missense
SNP
SNP
0.360
0.613
2--
PCDHA10p.N811S
Missense
SNP
0.238
2--
PCDHB15p.G63E
Missense
SNP
0.256
2--
PCDHGA8p.S687L
Missense
SNP
0.729
2--
PCDHGC4p.P147L
Missense
SNP
0.228
2--
PCED1B-
-
-
-
1Loss-
PCGF1-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCK1p.G8D
Missense
SNP
0.497
2--
PCLOp.R2966C
p.G1364R
Missense
Missense
SNP
SNP
0.418
0.490
2--
PCNP-
-
-
-
1Loss-
PCNX4p.E605K
Missense
SNP
0.488
2--
PCOLCEp.P413S
Missense
SNP
0.378
2--
PCP2-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCYOX1-
-
-
-
1Loss-
PDCD1-
-
-
-
3Gain-
PDCD11-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDCL3-
-
-
-
3Gain-
PDE11A-
-
-
-
3Gain-
PDE1A-
-
-
-
3Gain-
PDE1B-
-
-
-
1Loss-
PDE3A-
-
-
-
1Loss-
PDE3Bp.M617I
Missense
SNP
0.431
2--
PDE4A-
-
-
-
1Loss-
PDE4Cp.D60N
Missense
SNP
0.682
1Loss-
PDE6C-
-
-
-
1Loss-
PDE6D-
-
-
-
3Gain-
PDE6H-
-
-
-
1Loss-
PDE8Bp.D476N
Missense
SNP
0.646
2--
PDE9Ap.T219P
Missense
SNP
0.453
2--
PDGFDp.R275K
Missense
SNP
0.471
2--
PDIA5-
-
-
-
1Loss-
PDIA6-
-
-
-
1Loss-
PDK1-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDS5Ap.T1160S
Missense
SNP
0.473
2--
PDSS1-
-
-
-
1Loss-
PDZD2-
-
-
-
4Gain-
PDZD7-
-
-
-
1Loss-
PDZD8p.A216V
Missense
SNP
0.208
1Loss-
PDZRN4-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEBP1-
-
-
-
1Loss-
PECR-
-
-
-
3Gain-
PELI1-
-
-
-
1Loss-
PER2-
-
-
-
3Gain-
PET100-
-
-
-
1Loss-
PEX11G-
-
-
-
1Loss-
PEX13-
-
-
-
1Loss-
PEX5-
-
-
-
1Loss-
PFDN5-
-
-
-
1Loss-
PFKFB3-
-
-
-
1Loss-
PFKM-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN4-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAM5-
-
-
-
1Loss-
PGAP1-
-
-
-
3Gain-
PGLS-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHETA1-
-
-
-
1Loss-
PHF12p.S559F
Missense
SNP
0.451
2--
PHF24p.D372N
Missense
SNP
0.494
2--
PHLDA1-
-
-
-
1Loss-
PHLDB2-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
3Gain-
PHYH-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PI4K2A-
-
-
-
1Loss-
PIANP-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PID1-
-
-
-
3Gain-
PIEZO2-
-
-
-
1Loss-
PIGF-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGRp.S528F
Missense
SNP
0.535
2--
PIK3AP1-
-
-
-
1Loss-
PIK3C2Ap.P841S
Missense
SNP
0.577
2--
PIK3C2G-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R4-
-
-
-
1Loss-
PIKFYVEp.G1533E
Missense
SNP
0.837
3Gain-
PIM3p.G191S
Missense
SNP
0.665
2--
PIN1-
-
-
-
1Loss-
PIP4K2A-
-
-
-
1Loss-
PIP4K2C-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PITPNM2-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL1-
-
-
-
1Loss-
PJVK-
-
-
-
3Gain-
PKD1L2p.G402S
Missense
SNP
0.563
2--
PKD2L1-
-
-
-
1Loss-
PKDCC-
-
-
-
1Loss-
PKHD1L1p.W1061*
Nonsense
SNP
0.480
2--
PKN1-
-
-
-
1Loss-
PKP2-
-
-
-
1Loss-
PKP4-
-
-
-
3Gain-
PLA1A-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1Loss-
PLA2G1B-
-
-
-
1Loss-
PLA2G4Dp.X224_splice
Splice_Site
SNP
0.541
2--
PLA2R1-
-
-
-
3Gain-
PLAC9-
-
-
-
1Loss-
PLAU-
-
-
-
1Loss-
PLB1-
-
-
-
1Loss-
PLBD1-
-
-
-
1Loss-
PLBD2-
-
-
-
1Loss-
PLCB1p.S196F
Missense
SNP
0.423
2--
PLCD1p.F614I
Missense
SNP
0.526
2--
PLCD4-
-
-
-
3Gain-
PLCE1-
-
-
-
1Loss-
PLCL1-
-
-
-
3Gain-
PLCXD2-
-
-
-
1Loss-
PLCXD3-
-
-
-
4Gain-
PLCZ1-
-
-
-
1Loss-
PLECp.A1161V
Missense
SNP
0.506
2--
PLEK-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA3-
-
-
-
3Gain-
PLEKHA5-
-
-
-
1Loss-
PLEKHB2-
-
-
-
3Gain-
PLEKHG2p.P756Q
Missense
SNP
0.450
2--
PLEKHG4B-
-
-
-
3Gain-
PLEKHG6-
-
-
-
1Loss-
PLEKHG7-
-
-
-
1Loss-
PLEKHH2-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM3-
-
-
-
3Gain-
PLEKHN1p.R269C
Missense
SNP
0.253
2--
PLEKHS1-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP4-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLVAP-
-
-
-
1Loss-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
1Loss-
PLXNB2p.P1037L
Missense
SNP
0.252
2--
PLXNC1-
-
-
-
1Loss-
PLXND1-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMCH-
-
-
-
1Loss-
PMEL-
-
-
-
1Loss-
PMS1-
-
-
-
3Gain-
PNKD-
-
-
-
3Gain-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNO1-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPT1-
-
-
-
1Loss-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
PODNL1-
-
-
-
1Loss-
PODXL2-
-
-
-
1Loss-
POGLUT1-
-
-
-
1Loss-
POLEp.P441L
Missense
MNP
0.577
1Loss-
POLE4-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLQ-
-
-
-
1Loss-
POLR1A-
-
-
-
1Loss-
POLR1B-
-
-
-
3Gain-
POLR2D-
-
-
-
3Gain-
POLR2E-
-
-
-
1Loss-
POLR2Fp.X31_splice
Splice_Site
SNP
0.225
2--
POLR3A-
-
-
-
1Loss-
POLR3B-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121L12p.P261Q
Missense
SNP
0.503
2--
POMC-
-
-
-
1Loss-
POP5-
-
-
-
1Loss-
POPDC2-
-
-
-
1Loss-
POSTNp.G326E
p.R289K
Missense
Missense
SNP
SNP
0.509
0.411
2--
POTEC-
-
-
-
1Loss-
POTEE-
-
-
-
3Gain-
POTEF-
-
-
-
3Gain-
POTEHp.P467L
Missense
MNP
0.104
2--
POTEI-
-
-
-
3Gain-
POTEJ-
-
-
-
3Gain-
POU3F3-
-
-
-
3Gain-
POU6F1-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPFIA2-
-
-
-
1Loss-
PPFIA3p.S142F
Missense
SNP
0.445
2--
PPFIBP1-
-
-
-
1Loss-
PPHLN1-
-
-
-
1Loss-
PPIF-
-
-
-
1Loss-
PPIG-
-
-
-
3Gain-
PPIL1p.X94_splice
Splice_Site
SNP
0.437
2--
PPIL3-
-
-
-
3Gain-
PPM1B-
-
-
-
1Loss-
PPM1Dp.Q524*
Nonsense
SNP
0.438
2--
PPM1Fp.Q276*
Nonsense
SNP
0.231
2--
PPM1G-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPP1CB-
-
-
-
1Loss-
PPP1CC-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R13Bp.R194C
Missense
SNP
0.443
2--
PPP1R1A-
-
-
-
1Loss-
PPP1R1C-
-
-
-
3Gain-
PPP1R21-
-
-
-
1Loss-
PPP1R3C-
-
-
-
1Loss-
PPP1R7-
-
-
-
3Gain-
PPP2R2D-
-
-
-
1Loss-
PPP2R5Cp.D206G
Missense
SNP
0.545
2--
PPP3CB-
-
-
-
1Loss-
PPP3R1-
-
-
-
1Loss-
PPP4R1-
-
-
-
1Loss-
PPP4R3B-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PPTC7-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC3-
-
-
-
1Loss-
PRADC1-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2p.G208R
Missense
SNP
0.209
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRDM15p.P414L
Missense
SNP
0.543
2--
PRDM4-
-
-
-
1Loss-
PRDM9-
-
-
-
4Gain-
PRDX2-
-
-
-
1Loss-
PRDX3-
-
-
-
1Loss-
PREB-
-
-
-
1Loss-
PRELID3A-
-
-
-
1Loss-
PREPL-
-
-
-
1Loss-
PRF1-
-
-
-
1Loss-
PRG2p.D38E
Missense
SNP
0.489
2--
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE1-
-
-
-
1Loss-
PRIM1-
-
-
-
1Loss-
PRKAA1-
-
-
-
4Gain-
PRKAB1-
-
-
-
1Loss-
PRKACA-
-
-
-
1Loss-
PRKAG1-
-
-
-
1Loss-
PRKAG3-
-
-
-
3Gain-
PRKCE-
-
-
-
1Loss-
PRKCQ-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKD2p.S75F
Missense
SNP
0.379
2--
PRKD3-
-
-
-
1Loss-
PRKG1-
-
-
-
1Loss-
PRKRA-
-
-
-
3Gain-
PRLH-
-
-
-
3Gain-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
4Gain-
PRMT8-
-
-
-
1Loss-
PROC-
-
-
-
3Gain-
PROKR1-
-
-
-
1Loss-
PROS1-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PROX2p.W121*
Nonsense
SNP
0.443
2--
PRPF18-
-
-
-
1Loss-
PRPF40A-
-
-
-
3Gain-
PRPF40B-
-
-
-
1Loss-
PRPH-
-
-
-
1Loss-
PRR13-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR26-
-
-
-
1Loss-
PRR30-
-
-
-
1Loss-
PRR35p.R291K
Missense
SNP
0.461
2--
PRR36-
-
-
-
1Loss-
PRR4-
-
-
-
1Loss-
PRRC2Bp.P1207L
Missense
SNP
0.487
2--
PRSS42p.Q149*
Nonsense
SNP
0.517
2--
PRSS56-
-
-
-
3Gain-
PRSS57-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PSAP-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSD2p.G107E
Missense
SNP
0.712
2--
PSD4-
-
-
-
3Gain-
PSG5p.G17R
Missense
SNP
0.379
2--
PSMA8-
-
-
-
1Loss-
PSMD1p.P119L
Missense
SNP
0.715
3Gain-
PSMD14-
-
-
-
3Gain-
PSMD9-
-
-
-
1Loss-
PSME4-
-
-
-
1Loss-
PSMG2-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTCD3-
-
-
-
1Loss-
PTCHD3-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGER4-
-
-
-
4Gain-
PTGES3-
-
-
-
1Loss-
PTH1Rp.P532S
Missense
SNP
0.514
2--
PTH2R-
-
-
-
3Gain-
PTHLH-
-
-
-
1Loss-
PTMA-
-
-
-
3Gain-
PTMS-
-
-
-
1Loss-
PTPN11-
-
-
-
1Loss-
PTPN18-
-
-
-
3Gain-
PTPN2-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN22p.S538L
Missense
SNP
0.719
2--
PTPN4-
-
-
-
3Gain-
PTPN6-
-
-
-
1Loss-
PTPRB-
-
-
-
1Loss-
PTPRDp.R1088C
Missense
SNP
0.903
2--
PTPRE-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRN-
-
-
-
3Gain-
PTPRO-
-
-
-
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTPRS-
-
-
-
1Loss-
PTRHD1-
-
-
-
1Loss-
PUM2-
-
-
-
1Loss-
PUS1-
-
-
-
1Loss-
PUS10-
-
-
-
1Loss-
PUS7L-
-
-
-
1Loss-
PWP1-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDNp.S250T
Missense
SNP
0.703
1Loss-
PXMP2-
-
-
-
1Loss-
PXN-
-
-
-
1Loss-
PYGBp.V65L
Missense
SNP
0.432
2--
PYM1-
-
-
-
1Loss-
PYROXD1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
PZP-
-
-
-
1Loss-
QPCT-
-
-
-
1Loss-
QRICH1p.S570F
Missense
SNP
0.475
2--
QTRT1-
-
-
-
1Loss-
QTRT2-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
R3HDM1-
-
-
-
3Gain-
R3HDM2-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
RAB10-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP5-
-
-
-
1Loss-
RAB12-
-
-
-
1Loss-
RAB17-
-
-
-
3Gain-
RAB18-
-
-
-
1Loss-
RAB1A-
-
-
-
1Loss-
RAB21-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB31-
-
-
-
1Loss-
RAB35-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB3GAP1-
-
-
-
3Gain-
RAB3IP-
-
-
-
1Loss-
RAB43-
-
-
-
1Loss-
RAB44p.P498S
Missense
SNP
0.522
2--
RAB5B-
-
-
-
1Loss-
RAB6B-
-
-
-
1Loss-
RAB6C-
-
-
-
3Gain-
RAB6D-
-
-
-
3Gain-
RAB7A-
-
-
-
1Loss-
RAB8A-
-
-
-
1Loss-
RABL2A-
-
-
-
3Gain-
RABL3-
-
-
-
1Loss-
RACGAP1-
-
-
-
1Loss-
RAD1-
-
-
-
4Gain-
RAD23A-
-
-
-
1Loss-
RAD51AP1p.V166F
Missense
SNP
0.705
1Loss-
RAD51AP2-
-
-
-
1Loss-
RAD52-
-
-
-
1Loss-
RAD9B-
-
-
-
1Loss-
RADILp.S1060Y
Missense
SNP
0.474
2--
RAI14-
-
-
-
4Gain-
RALB-
-
-
-
3Gain-
RALBP1-
-
-
-
1Loss-
RAMP1-
-
-
-
3Gain-
RAN-
-
-
-
1Loss-
RANBP2-
-
-
-
3Gain-
RANBP3-
-
-
-
1Loss-
RANBP3L-
-
-
-
4Gain-
RAP1B-
-
-
-
1Loss-
RAPGEF3-
-
-
-
1Loss-
RAPGEF4-
-
-
-
3Gain-
RAPH1-
-
-
-
3Gain-
RARG-
-
-
-
1Loss-
RASAL1-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASGEF1A-
-
-
-
1Loss-
RASGRP3p.W653*
Nonsense
SNP
0.488
1Loss-
RASSF3-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF8-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RBBP6p.D204N
Missense
SNP
0.192
2--
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBKS-
-
-
-
1Loss-
RBM17-
-
-
-
1Loss-
RBM19-
-
-
-
1Loss-
RBM20-
-
-
-
1Loss-
RBM43-
-
-
-
3Gain-
RBM44-
-
-
-
3Gain-
RBM45-
-
-
-
3Gain-
RBMS1-
-
-
-
3Gain-
RBMS2-
-
-
-
1Loss-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBPJp.R37Q
Missense
SNP
0.331
2--
RBSNp.S548F
Missense
SNP
0.480
2--
RDH14-
-
-
-
1Loss-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
RECQL-
-
-
-
1Loss-
REEP1-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
REG1A-
-
-
-
1Loss-
REG1B-
-
-
-
1Loss-
REG3A-
-
-
-
1Loss-
REG3G-
-
-
-
1Loss-
REL-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL2p.P284L
Missense
SNP
0.317
2--
RELNp.N402I
Missense
SNP
0.383
2--
REP15-
-
-
-
1Loss-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
RESP18-
-
-
-
3Gain-
RETp.D850N
Missense
SNP
0.263
1Loss-
RETN-
-
-
-
1Loss-
RETNLB-
-
-
-
1Loss-
RETREG1-
-
-
-
4Gain-
RETREG2-
-
-
-
3Gain-
RETSAT-
-
-
-
1Loss-
REV1-
-
-
-
3Gain-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
RFC5-
-
-
-
1Loss-
RFLNA-
-
-
-
1Loss-
RFTN2-
-
-
-
3Gain-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX4-
-
-
-
1Loss-
RFX8-
-
-
-
3Gain-
RFXANK-
-
-
-
1Loss-
RGL3-
-
-
-
1Loss-
RGR-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RHBDD1-
-
-
-
3Gain-
RHEBL1-
-
-
-
1Loss-
RHNO1-
-
-
-
1Loss-
RHO-
-
-
-
1Loss-
RHOB-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOF-
-
-
-
1Loss-
RHOQ-
-
-
-
1Loss-
RIC8B-
-
-
-
1Loss-
RICTORp.L532F
Missense
SNP
0.142
4Gain-
RIF1-
-
-
-
3Gain-
RILPL1-
-
-
-
1Loss-
RILPL2-
-
-
-
1Loss-
RIMBP2-
-
-
-
1Loss-
RIMKLB-
-
-
-
1Loss-
RIN1p.S310Y
Missense
SNP
0.443
2--
RIOK3-
-
-
-
3Gain-
RIOX2-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RITA1-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RMC1-
-
-
-
3Gain-
RMDN2-
-
-
-
1Loss-
RMND5A-
-
-
-
1Loss-
RNASEH1-
-
-
-
1Loss-
RNASEH2A-
-
-
-
1Loss-
RND1-
-
-
-
1Loss-
RND3-
-
-
-
3Gain-
RNF10-
-
-
-
1Loss-
RNF103-
-
-
-
1Loss-
RNF103-CHMP3-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF144A-
-
-
-
1Loss-
RNF149-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF181-
-
-
-
1Loss-
RNF223p.S201F
Missense
SNP
0.766
2--
RNF25-
-
-
-
3Gain-
RNF34-
-
-
-
1Loss-
RNF41-
-
-
-
1Loss-
RNFT2-
-
-
-
1Loss-
RNLSp.G301E
Missense
SNP
0.662
1Loss-
RNMT-
-
-
-
1Loss-
RNPEPL1-
-
-
-
3Gain-
RNPS1p.P267S
Missense
SNP
0.565
2--
ROCK2-
-
-
-
1Loss-
ROPN1-
-
-
-
1Loss-
ROPN1B-
-
-
-
1Loss-
ROPN1L-
-
-
-
4Gain-
RP1p.K381T
Missense
SNP
0.501
2--
RP11-766F14.2p.S1747F
Missense
SNP
0.432
NDND-
RPAP3-
-
-
-
1Loss-
RPE-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPIA-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL24-
-
-
-
1Loss-
RPL26p.K77Nfs*21
Frame_Shift_Del
DEL
0.570
2--
RPL31-
-
-
-
3Gain-
RPL37-
-
-
-
4Gain-
RPL37A-
-
-
-
3Gain-
RPL41-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPLP0-
-
-
-
1Loss-
RPN1-
-
-
-
1Loss-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRM-
-
-
-
3Gain-
RPS15-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS26-
-
-
-
1Loss-
RPS27A-
-
-
-
1Loss-
RPS28-
-
-
-
1Loss-
RPS7-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RRM2-
-
-
-
1Loss-
RRP12-
-
-
-
1Loss-
RSAD2-
-
-
-
1Loss-
RSRC2-
-
-
-
1Loss-
RSU1-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTKN-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTL1p.R146K
Missense
SNP
0.431
2--
RTN1p.L612I
p.G155R
Missense
Missense
SNP
SNP
0.344
0.430
2--
RTN4-
-
-
-
1Loss-
RTP5-
-
-
-
3Gain-
RTTN-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY4-
-
-
-
3Gain-
RUVBL1-
-
-
-
1Loss-
RXFP3-
-
-
-
4Gain-
RXYLT1-
-
-
-
1Loss-
RYK-
-
-
-
1Loss-
RYR2p.Q1949*
p.E2064K
Nonsense
Missense
SNP
SNP
0.363
0.478
2--
RYR3p.S3035F
Missense
SNP
0.404
2--
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SAG-
-
-
-
3Gain-
SALL3-
-
-
-
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD8-
-
-
-
1Loss-
SAMSN1-
-
-
-
2-NRIP1--SAMSN1
SAP130-
-
-
-
3Gain-
SAR1A-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SART3-
-
-
-
1Loss-
SATB2-
-
-
-
3Gain-
SAXO1p.R123Q
Missense
SNP
1.000
2--
SBNO1-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAF11-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCARB1-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCG2-
-
-
-
3Gain-
SCGB1D2p.R74Q
Missense
SNP
0.472
2--
SCLY-
-
-
-
3Gain-
SCML2p.P295S
Missense
SNP
1.000
NDND-
SCN1A-
-
-
-
3Gain-
SCN2Ap.Q1838*
p.S1968F
Nonsense
Missense
SNP
SNP
0.667
0.795
3Gain-
SCN3A-
-
-
-
3Gain-
SCN7A-
-
-
-
3Gain-
SCN8A-
-
-
-
1Loss-
SCN9A-
-
-
-
3Gain-
SCNN1A-
-
-
-
1Loss-
SCRN3-
-
-
-
3Gain-
SCTR-
-
-
-
3Gain-
SCYL2-
-
-
-
1Loss-
SDC1-
-
-
-
1Loss-
SDHA-
-
-
-
3Gain-
SDR9C7-
-
-
-
1Loss-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC16Ap.D944N
Missense
SNP
0.471
2--
SEC22A-
-
-
-
1Loss-
SEC23IP-
-
-
-
1Loss-
SEC24Cp.P457L
Missense
SNP
0.259
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A1-
-
-
-
1Loss-
SEC61A2-
-
-
-
1Loss-
SEH1L-
-
-
-
1Loss-
SELENOI-
-
-
-
1Loss-
SELENOP-
-
-
-
4Gain-
SELPLG-
-
-
-
1Loss-
SEMA4C-
-
-
-
3Gain-
SEMA4Dp.E637K
p.P586S
Missense
Missense
SNP
SNP
0.496
0.510
2--
SEMA4F-
-
-
-
1Loss-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
4Gain-
SEMA5B-
-
-
-
1Loss-
SEMA6Ap.G971C
Missense
SNP
0.225
2--
SEMA6B-
-
-
-
1Loss-
SENP1-
-
-
-
1Loss-
SENP7-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPT10-
-
-
-
3Gain-
SEPT2-
-
-
-
3Gain-
SERAC1p.E516K
Missense
SNP
0.480
2--
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE2-
-
-
-
3Gain-
SERTAD2-
-
-
-
1Loss-
SESTD1p.T79I
Missense
SNP
0.191
3Gain-
SETBP1-
-
-
-
1Loss-
SETD1B-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B1-
-
-
-
3Gain-
SF3B6-
-
-
-
1Loss-
SFMBT2-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFSWAP-
-
-
-
1Loss-
SFT2D1p.L116F
Missense
SNP
0.477
2--
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPB-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SFXN5-
-
-
-
1Loss-
SGIP1p.P579L
Missense
SNP
0.240
2--
SGMS1-
-
-
-
1Loss-
SGO2p.P670S
Missense
SNP
0.774
3Gain-
SGPL1-
-
-
-
1Loss-
SGPP2-
-
-
-
3Gain-
SGTA-
-
-
-
1Loss-
SH2B1p.P184L
Missense
SNP
0.498
2--
SH2B3-
-
-
-
1Loss-
SH2D3A-
-
-
-
1Loss-
SH2D4B-
-
-
-
1Loss-
SH2D6-
-
-
-
1Loss-
SH3BP4-
-
-
-
3Gain-
SH3GL1-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3RF3p.P575L
Missense
SNP
0.223
3Gain-
SH3YL1-
-
-
-
1Loss-
SHANK2p.P997S
Missense
SNP
0.467
2--
SHC2p.P582L
Missense
SNP
0.653
1Loss-
SHC4p.S554Y
Missense
SNP
0.462
2--
SHD-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHMT2-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SIDT1-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SINHCAF-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT4-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIX2-
-
-
-
1Loss-
SIX3-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKIDA1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP2-
-
-
-
4Gain-
SLC11A1-
-
-
-
3Gain-
SLC11A2-
-
-
-
1Loss-
SLC12A5p.E806K
Missense
SNP
0.421
2--
SLC12A7-
-
-
-
4Gain-
SLC12A8-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A2p.S643F
Missense
SNP
0.742
1Loss-
SLC15A4-
-
-
-
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A14-
-
-
-
3Gain-
SLC16A7-
-
-
-
1Loss-
SLC16A9-
-
-
-
1Loss-
SLC17A3p.P260L
Missense
SNP
0.497
2--
SLC17A8p.S89F
Missense
SNP
0.612
1Loss-
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC19A3-
-
-
-
3Gain-
SLC1A3-
-
-
-
4Gain-
SLC1A4-
-
-
-
1Loss-
SLC1A5p.P509S
Missense
SNP
0.505
2--
SLC1A6-
-
-
-
1Loss-
SLC20A1-
-
-
-
3Gain-
SLC22A11p.X166_splice
Splice_Site
SNP
0.478
2--
SLC23A3-
-
-
-
3Gain-
SLC25A12-
-
-
-
3Gain-
SLC25A16-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A3-
-
-
-
1Loss-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A10-
-
-
-
1Loss-
SLC27A1-
-
-
-
1Loss-
SLC29A3-
-
-
-
1Loss-
SLC2A13-
-
-
-
1Loss-
SLC2A14-
-
-
-
1Loss-
SLC2A3-
-
-
-
1Loss-
SLC30A3-
-
-
-
1Loss-
SLC30A6-
-
-
-
1Loss-
SLC35A5-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35E3-
-
-
-
1Loss-
SLC35F5-
-
-
-
3Gain-
SLC35F6-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G4-
-
-
-
1Loss-
SLC38A1-
-
-
-
1Loss-
SLC38A11-
-
-
-
3Gain-
SLC38A2-
-
-
-
1Loss-
SLC38A4-
-
-
-
1Loss-
SLC39A10-
-
-
-
3Gain-
SLC39A12p.G616R
Missense
SNP
0.309
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A4p.D319N
Missense
SNP
0.465
2--
SLC39A5-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC3A1-
-
-
-
1Loss-
SLC40A1-
-
-
-
3Gain-
SLC41A2-
-
-
-
1Loss-
SLC41A3-
-
-
-
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC44A5p.R507Q
Missense
SNP
0.225
2--
SLC45A2-
-
-
-
4Gain-
SLC48A1-
-
-
-
1Loss-
SLC4A10p.E120K
Missense
SNP
0.750
3Gain-
SLC4A1AP-
-
-
-
1Loss-
SLC4A3-
-
-
-
3Gain-
SLC4A4p.P787S
Missense
SNP
0.428
2--
SLC4A5-
-
-
-
1Loss-
SLC4A8-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC5A6-
-
-
-
1Loss-
SLC5A7-
-
-
-
3Gain-
SLC5A8-
-
-
-
1Loss-
SLC6A12-
-
-
-
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A18-
-
-
-
4Gain-
SLC6A19-
-
-
-
4Gain-
SLC6A3-
-
-
-
4Gain-
SLC8A1-
-
-
-
1Loss-
SLC8B1-
-
-
-
1Loss-
SLC9A2-
-
-
-
3Gain-
SLC9A3-
-
-
-
3Gain-
SLC9A4-
-
-
-
3Gain-
SLC9C1p.L247F
Missense
SNP
1.000
1Loss-
SLC9C2p.N471K
Missense
SNP
0.460
2--
SLCO1A2-
-
-
-
1Loss-
SLCO1B1-
-
-
-
1Loss-
SLCO1B3-
-
-
-
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1p.G546E
Missense
SNP
0.288
1Loss-
SLCO2A1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAGP-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCA5-
-
-
-
6Amp-
SMARCAL1-
-
-
-
3Gain-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMC3-
-
-
-
1Loss-
SMC6-
-
-
-
1Loss-
SMCHD1-
-
-
-
1Loss-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMUG1-
-
-
-
1Loss-
SMYD1-
-
-
-
1Loss-
SMYD5-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNCG-
-
-
-
1Loss-
SNED1-
-
-
-
3Gain-
SNORC-
-
-
-
3Gain-
SNRNP200-
-
-
-
3Gain-
SNRNP27-
-
-
-
1Loss-
SNRNP35-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNRPG-
-
-
-
1Loss-
SNTG2-
-
-
-
1Loss-
SNX17-
-
-
-
1Loss-
SNX4-
-
-
-
1Loss-
SOAT2-
-
-
-
1Loss-
SOCS2-
-
-
-
1Loss-
SOCS5-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOHLH2p.L23F
Missense
SNP
0.449
2--
SORBS1-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SOS1-
-
-
-
1Loss-
SOWAHC-
-
-
-
3Gain-
SOX11-
-
-
-
1Loss-
SOX5-
-
-
-
1Loss-
SP1-
-
-
-
1Loss-
SP100-
-
-
-
3Gain-
SP110-
-
-
-
3Gain-
SP140-
-
-
-
3Gain-
SP140L-
-
-
-
3Gain-
SP3-
-
-
-
3Gain-
SP5-
-
-
-
3Gain-
SP7-
-
-
-
1Loss-
SP9-
-
-
-
3Gain-
SPACA3p.S19F
Missense
SNP
0.446
2--
SPAG16-
-
-
-
3Gain-
SPAG6-
-
-
-
1Loss-
SPAST-
-
-
-
1Loss-
SPATA3-
-
-
-
3Gain-
SPATA31A1p.W1187*
Nonsense
SNP
0.451
2--
SPATS2-
-
-
-
1Loss-
SPATS2L-
-
-
-
3Gain-
SPC24-
-
-
-
1Loss-
SPC25-
-
-
-
3Gain-
SPDYA-
-
-
-
1Loss-
SPEF2-
-
-
-
4Gain-
SPEGp.P2893L
Missense
SNP
0.807
3Gain-
SPHKAPp.G425E
Missense
SNP
0.194
3Gain-
SPIC-
-
-
-
1Loss-
SPICE1-
-
-
-
1Loss-
SPIRE1-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPOPL-
-
-
-
3Gain-
SPP2-
-
-
-
3Gain-
SPPL2B-
-
-
-
1Loss-
SPPL3-
-
-
-
1Loss-
SPR-
-
-
-
1Loss-
SPRED2-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRYD3p.S57N
Missense
SNP
0.595
1Loss-
SPRYD4-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPTA1p.D1993N
Missense
SNP
0.574
2--
SPTBN1-
-
-
-
1Loss-
SPX-
-
-
-
1Loss-
SRBD1-
-
-
-
1Loss-
SRD5A1-
-
-
-
4Gain-
SRD5A2-
-
-
-
1Loss-
SRGAP1-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRPRB-
-
-
-
1Loss-
SRRM4-
-
-
-
1Loss-
SRRTp.R50S
Missense
SNP
0.488
2--
SRSF7-
-
-
-
1Loss-
SRSF9-
-
-
-
1Loss-
SS18-
-
-
-
1Loss-
SSB-
-
-
-
3Gain-
SSBP4-
-
-
-
1Loss-
SSH1-
-
-
-
1Loss-
SSPN-
-
-
-
1Loss-
SSUH2p.A18T
Missense
SNP
0.505
2--
ST3GAL5-
-
-
-
1Loss-
ST3GAL6-
-
-
-
1Loss-
ST6GAL2-
-
-
-
3Gain-
ST8SIA1-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAB2-
-
-
-
1Loss-
STAC3-
-
-
-
1Loss-
STAM-
-
-
-
1Loss-
STAM2-
-
-
-
3Gain-
STAMBP-
-
-
-
1Loss-
STAMBPL1-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STARD3p.G205E
Missense
SNP
0.395
2--
STARD6-
-
-
-
1Loss-
STARD7-
-
-
-
3Gain-
STAT1-
-
-
-
3Gain-
STAT2-
-
-
-
1Loss-
STAT4-
-
-
-
3Gain-
STAT6-
-
-
-
1Loss-
STEAP3-
-
-
-
3Gain-
STK11-
-
-
-
1Loss-
STK11IP-
-
-
-
3Gain-
STK16-
-
-
-
3Gain-
STK17B-
-
-
-
3Gain-
STK25-
-
-
-
3Gain-
STK32Ap.G197R
Missense
SNP
0.762
2--
STK32C-
-
-
-
1Loss-
STK36-
-
-
-
3Gain-
STK38L-
-
-
-
1Loss-
STK39-
-
-
-
3Gain-
STN1-
-
-
-
1Loss-
STON1-
-
-
-
1Loss-
STON1-GTF2A1L-
-
-
-
1Loss-
STON2p.P250H
Missense
SNP
0.534
2--
STOX1-
-
-
-
1Loss-
STPG4-
-
-
-
1Loss-
STRADB-
-
-
-
3Gain-
STRAP-
-
-
-
1Loss-
STRN-
-
-
-
1Loss-
STX10-
-
-
-
1Loss-
STX19-
-
-
-
1Loss-
STX2-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP5L-
-
-
-
1Loss-
STYK1-
-
-
-
1Loss-
SUB1-
-
-
-
4Gain-
SUCLG1-
-
-
-
1Loss-
SUDS3-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SULT1C2p.R142Q
Missense
SNP
0.800
3Gain-
SULT1C3-
-
-
-
3Gain-
SULT1C4-
-
-
-
3Gain-
SULT6B1-
-
-
-
1Loss-
SUMO1-
-
-
-
3Gain-
SUOX-
-
-
-
1Loss-
SUPT5Hp.A832V
Missense
SNP
0.488
2--
SUPT7L-
-
-
-
1Loss-
SUPV3L1-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SVILp.S1019F
Missense
SNP
0.629
1Loss-
SVOP-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SYCE1-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYCP3-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYNCRIPp.G559E
Missense
SNP
0.324
2--
SYNJ1p.S1568F
Missense
SNP
0.480
2--
SYNPO2L-
-
-
-
1Loss-
SYT1-
-
-
-
1Loss-
SYT10-
-
-
-
1Loss-
SYT15-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT8p.E191K
Missense
SNP
0.565
2--
Tp.E402K
Missense
SNP
0.505
NDND-
TAC3-
-
-
-
1Loss-
TACC2-
-
-
-
1Loss-
TACR1-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TACR3p.P353L
p.W71C
Missense
Missense
SNP
SNP
0.261
0.478
2--
TAF1B-
-
-
-
1Loss-
TAF2p.P1071L
Missense
SNP
0.477
2--
TAF3-
-
-
-
1Loss-
TAF4B-
-
-
-
1Loss-
TAF5-
-
-
-
1Loss-
TAGLN3-
-
-
-
1Loss-
TANC1-
-
-
-
3Gain-
TANK-
-
-
-
3Gain-
TAOK1p.R654*
Nonsense
SNP
0.435
2--
TAOK2p.P899S
Missense
SNP
0.505
2--
TAOK3-
-
-
-
1Loss-
TAPBPL-
-
-
-
1Loss-
TARBP2-
-
-
-
1Loss-
TARS-
-
-
-
4Gain-
TAS2R1-
-
-
-
4Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R42-
-
-
-
1Loss-
TAS2R43-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D15-
-
-
-
1Loss-
TBC1D23-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D8p.P265L
Missense
SNP
0.181
3Gain-
TBK1-
-
-
-
1Loss-
TBR1-
-
-
-
3Gain-
TBX3-
-
-
-
1Loss-
TBX5-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF23-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7L1-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCHHL1p.D572N
Missense
SNP
0.542
2--
TCHP-
-
-
-
1Loss-
TCP11L2-
-
-
-
1Loss-
TCTN1-
-
-
-
1Loss-
TCTN2-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD15-
-
-
-
1Loss-
TEAD4-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TECTBp.G66R
Missense
SNP
0.267
1Loss-
TEDDM1p.D49Y
Missense
SNP
0.465
2--
TEKT1p.D280Y
Missense
SNP
0.440
2--
TENT4A-
-
-
-
4Gain-
TERT-
-
-
-
4Gain-
TESC-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TET3-
-
-
-
1Loss-
TEX261-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX37-
-
-
-
1Loss-
TEX40p.M60I;p.E61K
Missense
MNP
0.482
NDND-
TEX44-
-
-
-
3Gain-
TEX45-
-
-
-
1Loss-
TEX49-
-
-
-
1Loss-
TEX51-
-
-
-
3Gain-
TEX52-
-
-
-
1Loss-
TF-
-
-
-
1Loss-
TFAM-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFCP2L1-
-
-
-
3Gain-
TFG-
-
-
-
1Loss-
TFIP11p.W482*
Nonsense
SNP
0.694
2--
TFPI-
-
-
-
3Gain-
TGp.E1471*
Nonsense
SNP
0.419
2--
TGFA-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGFBRAP1-
-
-
-
3Gain-
TGIF1-
-
-
-
1Loss-
TGOLN2-
-
-
-
1Loss-
THADAp.S849P
Missense
SNP
0.622
1Loss-
THAP2-
-
-
-
1Loss-
THAP4-
-
-
-
3Gain-
THEG-
-
-
-
1Loss-
THNSL1-
-
-
-
1Loss-
THNSL2-
-
-
-
1Loss-
THOC1-
-
-
-
1Loss-
THOC2p.V539E
Missense
SNP
0.949
NDND-
THOP1-
-
-
-
1Loss-
THSD1p.F439L
Missense
SNP
0.513
2--
THSD7Ap.D490N
Missense
SNP
0.472
2--
THSD7Bp.V117A
Missense
SNP
0.171
3Gain-
THUMPD2-
-
-
-
1Loss-
TIA1-
-
-
-
1Loss-
TIAL1-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TIGAR-
-
-
-
1Loss-
TIGD3p.P242S
Missense
SNP
0.435
2--
TIGIT-
-
-
-
1Loss-
TIMELESS-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMMDC1-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE3p.S742L
Missense
SNP
0.372
2--
TLE6-
-
-
-
1Loss-
TLK1-
-
-
-
3Gain-
TLL2-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TLX2-
-
-
-
1Loss-
TM4SF20-
-
-
-
3Gain-
TM6SF2-
-
-
-
1Loss-
TM7SF3-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TMBIM1-
-
-
-
3Gain-
TMBIM4-
-
-
-
1Loss-
TMBIM6-
-
-
-
1Loss-
TMCC1-
-
-
-
1Loss-
TMCC3-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMED2-
-
-
-
1Loss-
TMEFF2-
-
-
-
3Gain-
TMEM106C-
-
-
-
1Loss-
TMEM108-
-
-
-
1Loss-
TMEM116-
-
-
-
1Loss-
TMEM117-
-
-
-
1Loss-
TMEM119-
-
-
-
1Loss-
TMEM120B-
-
-
-
1Loss-
TMEM127-
-
-
-
3Gain-
TMEM131-
-
-
-
3Gain-
TMEM132B-
-
-
-
1Loss-
TMEM132C-
-
-
-
1Loss-
TMEM132Dp.G253S
Missense
SNP
0.322
1Loss-
TMEM150A-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM163p.V279M
Missense
SNP
0.785
3Gain-
TMEM169-
-
-
-
3Gain-
TMEM17-
-
-
-
1Loss-
TMEM177-
-
-
-
3Gain-
TMEM178A-
-
-
-
1Loss-
TMEM18-
-
-
-
1Loss-
TMEM182-
-
-
-
3Gain-
TMEM185B-
-
-
-
3Gain-
TMEM19-
-
-
-
1Loss-
TMEM198-
-
-
-
3Gain-
TMEM200C-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM214-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM233-
-
-
-
1Loss-
TMEM236-
-
-
-
1Loss-
TMEM237-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM245p.S221L
Missense
SNP
0.489
2--
TMEM247-
-
-
-
1Loss-
TMEM254-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM263-
-
-
-
1Loss-
TMEM267.
Splice_Site
SNP
0.099
4Gain-
TMEM273-
-
-
-
1Loss-
TMEM37-
-
-
-
3Gain-
TMEM38A-
-
-
-
1Loss-
TMEM39A-
-
-
-
1Loss-
TMEM45A-
-
-
-
1Loss-
TMEM52B-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM62p.A250S
Missense
SNP
0.437
2--
TMEM72-
-
-
-
1Loss-
TMEM87B-
-
-
-
3Gain-
TMEM94p.P461L
Missense
SNP
0.390
2--
TMIGD2-
-
-
-
1Loss-
TMPO-
-
-
-
1Loss-
TMPRSS12-
-
-
-
1Loss-
TMPRSS7-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TMSB10-
-
-
-
1Loss-
TMTC1-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP6-
-
-
-
3Gain-
TNFAIP8L1-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNKS2-
-
-
-
1Loss-
TNP1-
-
-
-
3Gain-
TNPO2p.S355F
p.G305E
Missense
Missense
SNP
SNP
0.295
0.589
1Loss-
TNS1-
-
-
-
3Gain-
TNS2-
-
-
-
1Loss-
TNXBp.E3171K
p.P2507L
Missense
Missense
SNP
SNP
0.988
0.525
2--
TOGARAM2-
-
-
-
1Loss-
TOMM70-
-
-
-
1Loss-
TOP2Bp.E519K
Missense
SNP
0.410
2--
TOPAZ1p.P109S
Missense
SNP
0.528
2--
TOPBP1-
-
-
-
1Loss-
TP53p.W146*
Nonsense
SNP
1.000
2--
TP53I3-
-
-
-
1Loss-
TPCN1-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPH2-
-
-
-
1Loss-
TPI1-
-
-
-
1Loss-
TPM4-
-
-
-
1Loss-
TPO-
-
-
-
1Loss-
TPPP-
-
-
-
3Gain-
TPRA1-
-
-
-
1Loss-
TPRKB-
-
-
-
1Loss-
TPTE2p.D215N
Missense
SNP
0.436
2--
TRABD2A-
-
-
-
1Loss-
TRAF3IP1-
-
-
-
3Gain-
TRAFD1-
-
-
-
1Loss-
TRAK2-
-
-
-
3Gain-
TRANK1p.V1017M
Missense
SNP
0.522
2--
TRAPPC12-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRAT1-
-
-
-
1Loss-
TRDMT1-
-
-
-
1Loss-
TREML2p.P134L
Missense
SNP
0.493
2--
TRH-
-
-
-
1Loss-
TRHDEp.G952E
Missense
SNP
0.204
1Loss-
TRIAP1-
-
-
-
1Loss-
TRIB2-
-
-
-
1Loss-
TRIM10p.S417F
Missense
SNP
0.515
2--
TRIM39-RPP21p.H371Q
Missense
SNP
1.000
2--
TRIM49B-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM54-
-
-
-
1Loss-
TRIM56p.S392N
Missense
SNP
0.550
2--
TRIM64C-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIM9p.R361H
Missense
SNP
0.446
2--
TRIO-
-
-
-
4Gain-
TRIOBPp.P1403L
Missense
SNP
0.748
2--
TRIP10-
-
-
-
1Loss-
TRIP12-
-
-
-
3Gain-
TRIP13-
-
-
-
4Gain-
TRIR-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT10C-
-
-
-
1Loss-
TRMT1Lp.G298R
Missense
SNP
0.618
2--
TRMT61B-
-
-
-
1Loss-
TROAP-
-
-
-
1Loss-
TRPC3p.E88K
Missense
SNP
0.486
2--
TRPC5p.S627F
Missense
SNP
0.889
NDND-
TRPM8-
-
-
-
3Gain-
TRPV4-
-
-
-
1Loss-
TRRAPp.S722F
Missense
SNP
0.509
2--
TRUB1-
-
-
-
1Loss-
TSFM-
-
-
-
1Loss-
TSGA10-
-
-
-
3Gain-
TSHZ1-
-
-
-
1Loss-
TSN-
-
-
-
3Gain-
TSPAN11-
-
-
-
1Loss-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN16-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN31-
-
-
-
1Loss-
TSPAN8-
-
-
-
1Loss-
TSPAN9-
-
-
-
1Loss-
TSPYL6-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TSTD2p.P133L
Missense
SNP
0.526
2--
TTC21B-
-
-
-
3Gain-
TTC23L-
-
-
-
4Gain-
TTC24p.K68N
Missense
SNP
0.522
2--
TTC27-
-
-
-
1Loss-
TTC30A-
-
-
-
3Gain-
TTC30B-
-
-
-
3Gain-
TTC31-
-
-
-
1Loss-
TTC32-
-
-
-
1Loss-
TTC33-
-
-
-
4Gain-
TTC39C-
-
-
-
1Loss-
TTC7A-
-
-
-
1Loss-
TTL-
-
-
-
3Gain-
TTLL4-
-
-
-
3Gain-
TTNp.W15880*
p.V12193M
p.E4564K
Nonsense
Missense
Missense
SNP
SNP
SNP
0.171
0.740
0.205
3Gain-
TTR-
-
-
-
1Loss-
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA3D-
-
-
-
3Gain-
TUBA4A-
-
-
-
3Gain-
TUBA4B-
-
-
-
3Gain-
TUBAL3-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUBB6-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBB8P12-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TULP3-
-
-
-
1Loss-
TUT1p.E168K
Missense
SNP
0.457
2--
TWF1-
-
-
-
1Loss-
TWIST2-
-
-
-
3Gain-
TWNK-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNDC9-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD1-
-
-
-
1Loss-
TXNRD3-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYMS-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
TYW5-
-
-
-
3Gain-
UBA5-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBC-
-
-
-
1Loss-
UBE2D1-
-
-
-
1Loss-
UBE2E3-
-
-
-
3Gain-
UBE2F-
-
-
-
3Gain-
UBE2F-SCLY-
-
-
-
3Gain-
UBE2N-
-
-
-
1Loss-
UBE2QL1-
-
-
-
4Gain-
UBE3B-
-
-
-
1Loss-
UBL5-
-
-
-
1Loss-
UBQLN4p.P365L
Missense
SNP
0.393
2--
UBR3-
-
-
-
3Gain-
UBTD1-
-
-
-
1Loss-
UBXN2A-
-
-
-
1Loss-
UBXN4-
-
-
-
3Gain-
UBXN6-
-
-
-
1Loss-
UCMA-
-
-
-
1Loss-
UCN-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UGGT1-
-
-
-
3Gain-
UGP2-
-
-
-
1Loss-
UGT1A1-
-
-
-
3Gain-
UGT1A10-
-
-
-
3Gain-
UGT1A3-
-
-
-
3Gain-
UGT1A4-
-
-
-
3Gain-
UGT1A5-
-
-
-
3Gain-
UGT1A6-
-
-
-
3Gain-
UGT1A7-
-
-
-
3Gain-
UGT1A8-
-
-
-
3Gain-
UGT1A9-
-
-
-
3Gain-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15p.P395L
Missense
SNP
0.394
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4p.P267S
Missense
SNP
0.518
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
4Gain-
UGT3A2-
-
-
-
4Gain-
UHRF1-
-
-
-
1Loss-
UHRF1BP1p.G32K
Missense
MNP
0.406
2--
UHRF1BP1L-
-
-
-
1Loss-
ULK1-
-
-
-
1Loss-
UMPS-
-
-
-
1Loss-
UNC119B-
-
-
-
1Loss-
UNC13Ap.R1137H
p.D425N
Missense
Missense
SNP
SNP
0.271
0.679
1Loss-
UNC50-
-
-
-
3Gain-
UNC5B-
-
-
-
1Loss-
UNC5Dp.P615L
Missense
SNP
0.402
2--
UNC80-
-
-
-
3Gain-
UNG-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPF2-
-
-
-
1Loss-
UPK1B-
-
-
-
1Loss-
UPP2-
-
-
-
3Gain-
UQCR11-
-
-
-
1Loss-
UROC1-
-
-
-
1Loss-
UROSp.P44S
Missense
SNP
0.652
1Loss-
USE1-
-
-
-
1Loss-
USF3-
-
-
-
1Loss-
USHBP1-
-
-
-
1Loss-
USP14-
-
-
-
1Loss-
USP15-
-
-
-
1Loss-
USP30-
-
-
-
1Loss-
USP34-
-
-
-
1Loss-
USP37-
-
-
-
3Gain-
USP39-
-
-
-
1Loss-
USP40-
-
-
-
3Gain-
USP44-
-
-
-
1Loss-
USP5-
-
-
-
1Loss-
USP54p.W1587*
Nonsense
SNP
0.599
1Loss-
USP6NLp.P633S
Missense
SNP
0.667
1Loss-
USTp.P26S
Missense
SNP
0.421
2--
UTF1-
-
-
-
1Loss-
UTP20-
-
-
-
1Loss-
UXS1-
-
-
-
3Gain-
VAMP1-
-
-
-
1Loss-
VAMP5-
-
-
-
1Loss-
VAMP8-
-
-
-
1Loss-
VAPA-
-
-
-
1Loss-
VAT1Lp.M163I
Missense
SNP
0.492
2--
VAV1-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VAX2-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VDR-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VIL1-
-
-
-
3Gain-
VIM-
-
-
-
1Loss-
VIT-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VPS11p.G621E
Missense
SNP
0.404
2--
VPS26A-
-
-
-
1Loss-
VPS29-
-
-
-
1Loss-
VPS33A-
-
-
-
1Loss-
VPS37B-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS54-
-
-
-
1Loss-
VRK2-
-
-
-
1Loss-
VSIG10-
-
-
-
1Loss-
VSIR-
-
-
-
1Loss-
VSNL1-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VSX2p.G72R
Missense
SNP
0.346
2--
VTI1A-
-
-
-
1Loss-
VWA2-
-
-
-
1Loss-
VWA3Bp.A1003T
Missense
SNP
0.788
3Gain-
VWA5Ap.T544I
Missense
SNP
0.425
2--
VWC2L-
-
-
-
3Gain-
VWDEp.G1546R
Missense
SNP
0.526
2--
VWF-
-
-
-
1Loss-
WAC-
-
-
-
1Loss-
WAPL-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
1Loss-
WBP1-
-
-
-
1Loss-
WBP11-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WDCP-
-
-
-
1Loss-
WDFY1-
-
-
-
3Gain-
WDFY4-
-
-
-
1Loss-
WDPCP-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR12-
-
-
-
3Gain-
WDR18-
-
-
-
1Loss-
WDR33-
-
-
-
3Gain-
WDR35-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR43-
-
-
-
1Loss-
WDR54-
-
-
-
1Loss-
WDR5B-
-
-
-
1Loss-
WDR66-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
4Gain-
WDR75-
-
-
-
3Gain-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR92-
-
-
-
1Loss-
WDSUB1-
-
-
-
3Gain-
WIF1-
-
-
-
1Loss-
WIPF1-
-
-
-
3Gain-
WIZ-
-
-
-
1Loss-
WNK1-
-
-
-
1Loss-
WNT1-
-
-
-
1Loss-
WNT10A-
-
-
-
3Gain-
WNT10B-
-
-
-
1Loss-
WNT5B-
-
-
-
1Loss-
WNT6-
-
-
-
3Gain-
WNT8B-
-
-
-
1Loss-
WSB2-
-
-
-
1Loss-
WSCD2-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XDH-
-
-
-
1Loss-
XIRP2-
-
-
-
3Gain-
XPNPEP1-
-
-
-
1Loss-
XPO1-
-
-
-
1Loss-
XPOT-
-
-
-
1Loss-
XRCC5-
-
-
-
3Gain-
YAF2-
-
-
-
1Loss-
YARS2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YEATS4-
-
-
-
1Loss-
YES1-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YIPF4-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YME1L1-
-
-
-
1Loss-
YPEL5-
-
-
-
1Loss-
YWHAQ-
-
-
-
1Loss-
ZACNp.E336K
Missense
SNP
0.514
2--
ZADH2-
-
-
-
1Loss-
ZAP70-
-
-
-
3Gain-
ZBED2-
-
-
-
1Loss-
ZBTB11-
-
-
-
1Loss-
ZBTB14-
-
-
-
1Loss-
ZBTB20-
-
-
-
1Loss-
ZBTB39-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZBTB9p.G316E
Missense
SNP
0.445
2--
ZC3H10-
-
-
-
1Loss-
ZC3H15-
-
-
-
3Gain-
ZC3H6-
-
-
-
3Gain-
ZC3H8-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24-
-
-
-
1Loss-
ZCCHC8-
-
-
-
1Loss-
ZCRB1-
-
-
-
1Loss-
ZDBF2-
-
-
-
3Gain-
ZDHHC11-
-
-
-
1Loss-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC16-
-
-
-
1Loss-
ZDHHC17-
-
-
-
1Loss-
ZDHHC23-
-
-
-
1Loss-
ZDHHC6-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZEB2-
-
-
-
3Gain-
ZFAND2B-
-
-
-
3Gain-
ZFAND4-
-
-
-
1Loss-
ZFC3H1-
-
-
-
1Loss-
ZFHX4p.P3157L
Missense
SNP
0.390
2--
ZFP30p.H488Y
Missense
SNP
0.513
2--
ZFP36L2-
-
-
-
1Loss-
ZFR-
-
-
-
4Gain-
ZFR2-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZGRF1p.G1955D
Missense
SNP
0.477
2--
ZIC5p.D649Y
Missense
SNP
0.304
2--
ZKSCAN7p.G23R
Missense
SNP
0.479
2--
ZMIZ1p.H509N
Missense
SNP
0.307
1Loss-
ZMYND11-
-
-
-
1Loss-
ZNF10-
-
-
-
1Loss-
ZNF100p.G463S
p.S232F
Missense
Missense
SNP
SNP
0.632
0.328
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF121-
-
-
-
1Loss-
ZNF131-
-
-
-
4Gain-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF140-
-
-
-
1Loss-
ZNF142-
-
-
-
3Gain-
ZNF148-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF189p.A408S
Missense
SNP
0.414
2--
ZNF20-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF22-
-
-
-
1Loss-
ZNF229p.E430K
Missense
SNP
0.450
2--
ZNF236-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF26-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF268-
-
-
-
1Loss-
ZNF317-
-
-
-
1Loss-
ZNF32-
-
-
-
1Loss-
ZNF320p.R320C
Missense
SNP
0.502
2--
ZNF333-
-
-
-
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF345p.E94D
Missense
SNP
0.468
2--
ZNF358-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF384-
-
-
-
3Gain-
ZNF385A-
-
-
-
1Loss-
ZNF385B-
-
-
-
3Gain-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF438-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF445p.R1002Q
Missense
SNP
0.500
2--
ZNF45p.D137N
Missense
SNP
0.464
2--
ZNF473p.S174A
Missense
SNP
0.525
2--
ZNF485-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491p.M122I
Missense
SNP
0.637
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF497p.P301L
Missense
SNP
0.441
2--
ZNF503-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512-
-
-
-
1Loss-
ZNF513-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF518Ap.P638S
Missense
SNP
0.362
1Loss-
ZNF519-
-
-
-
1Loss-
ZNF521p.P1259S
Missense
SNP
0.928
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF536p.E534K
Missense
SNP
0.401
2--
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF569p.H320Y
Missense
SNP
0.472
2--
ZNF57-
-
-
-
1Loss-
ZNF578p.Q21L
Missense
SNP
0.481
2--
ZNF605-
-
-
-
1Loss-
ZNF622-
-
-
-
4Gain-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF638-
-
-
-
1Loss-
ZNF641-
-
-
-
1Loss-
ZNF653-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF664-
-
-
-
1Loss-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF69-
-
-
-
1Loss-
ZNF699-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF708-
-
-
-
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729p.A804V
Missense
SNP
0.394
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF740-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF80-
-
-
-
1Loss-
ZNF804A-
-
-
-
3Gain-
ZNF823-
-
-
-
1Loss-
ZNF84-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF845p.P942L
Missense
SNP
0.491
2--
ZNF846-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF891-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNFX1p.L1795F
Missense
SNP
0.452
2--
ZNRF4-
-
-
-
1Loss-
ZP4p.P345S
Missense
SNP
0.556
2--
ZPLD1-
-
-
-
1Loss-
ZRANB1-
-
-
-
1Loss-
ZRANB3-
-
-
-
3Gain-
ZSCAN20p.P342S
Missense
SNP
0.191
2--
ZSCAN30-
-
-
-
1Loss-
ZSWIM2-
-
-
-
3Gain-
ZSWIM4-
-
-
-
1Loss-
ZSWIM8-
-
-
-
1Loss-
ZWINT-
-
-
-
1Loss-
ZXDC-
-
-
-
1Loss-
ZZEF1p.L628F
Missense
SNP
0.943
2--