PDMR-299254~011-R~QU7JF3-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A3GALT2-
-
-
-
4GainND
A4GNT-
-
-
-
3GainND
AADAC-
-
-
-
3GainND
AADACL2-
-
-
-
3GainND
AADAT-
-
-
-
1LossND
AAMDC-
-
-
-
1LossND
AARS-
-
-
-
1LossND
AASDH-
-
-
-
1LossND
AASS-
-
-
-
3GainND
ABCA13p.G3052E
Missense
SNP
0.472
2-ND
ABCA4-
-
-
-
1LossND
ABCB10-
-
-
-
3GainND
ABCB8-
-
-
-
3GainND
ABCC11-
-
-
-
1LossND
ABCC12-
-
-
-
1LossND
ABCC4-
-
-
-
1LossND
ABCC5-
-
-
-
3GainND
ABCC6p.L63F
Missense
SNP
0.470
2-ND
ABCC8-
-
-
-
3GainND
ABCD3-
-
-
-
1LossND
ABCE1-
-
-
-
1LossND
ABCF2-
-
-
-
3GainND
ABCF3-
-
-
-
3GainND
ABCG1p.P87F
Missense
DNP
0.571
2-ND
ABCG2-
-
-
-
1LossND
ABCG4-
-
-
-
1LossND
ABHD10-
-
-
-
3GainND
ABHD13-
-
-
-
1LossND
ABHD14A-
-
-
-
3GainND
ABHD14A-ACY1-
-
-
-
3GainND
ABHD14B-
-
-
-
3GainND
ABHD18-
-
-
-
1LossND
ABHD5-
-
-
-
3GainND
ABHD6-
-
-
-
3GainND
ABI3BP-
-
-
-
3GainND
ABL2-
-
-
-
3GainND
ABLIM3p.S469F
Missense
SNP
1.000
1LossND
ABRACL-
-
-
-
1LossND
ABRAXAS1-
-
-
-
1LossND
ABTB1-
-
-
-
3GainND
ABTB2-
-
-
-
3GainND
AC006059.2-
-
-
-
3GainND
AC006254.1-
-
-
-
3GainND
AC006518.7-
-
-
-
1LossND
AC008575.1-
-
-
-
1LossND
AC008676.3-
-
-
-
1LossND
AC008695.1-
-
-
-
1LossND
AC009119.2-
-
-
-
1LossND
AC009163.2-
-
-
-
1LossND
AC009163.4-
-
-
-
1LossND
AC010255.3-
-
-
-
1LossND
AC010531.1-
-
-
-
1LossND
AC010542.3-
-
-
-
1LossND
AC010547.4-
-
-
-
1LossND
AC011005.1-
-
-
-
3GainND
AC011330.3-
-
-
-
1LossND
AC012184.2-
-
-
-
1LossND
AC012651.1-
-
-
-
1LossND
AC018362.3-
-
-
-
1LossND
AC018512.1-
-
-
-
1LossND
AC018523.2-
-
-
-
3GainND
AC018554.3-
-
-
-
1LossND
AC018709.1-
-
-
-
1LossND
AC020636.2-
-
-
-
3GainND
AC021097.2-
-
-
-
3GainND
AC021097.3-
-
-
-
3GainND
AC021660.3-
-
-
-
3GainND
AC022384.1-
-
-
-
3GainND
AC025287.4-
-
-
-
1LossND
AC026316.5-
-
-
-
3GainND
AC026398.1-
-
-
-
1LossND
AC026464.1-
-
-
-
1LossND
AC026464.3-
-
-
-
1LossND
AC026464.4-
-
-
-
1LossND
AC026464.6-
-
-
-
1LossND
AC026786.1-
-
-
-
1LossND
AC040162.1-
-
-
-
1LossND
AC058822.1-
-
-
-
1LossND
AC068580.4-
-
-
-
1LossND
AC068631.2-
-
-
-
3GainND
AC069257.3-
-
-
-
3GainND
AC069444.2-
-
-
-
3GainND
AC073111.3-
-
-
-
3GainND
AC073111.5-
-
-
-
3GainND
AC074143.1-
-
-
-
1LossND
AC079594.2-
-
-
-
3GainND
AC083800.1-
-
-
-
3GainND
AC084337.2-
-
-
-
1LossND
AC090004.1-
-
-
-
3GainND
AC090517.4-
-
-
-
1LossND
AC090527.2-
-
-
-
1LossND
AC091959.3-
-
-
-
1LossND
AC092017.3-
-
-
-
3GainND
AC092042.3-
-
-
-
3GainND
AC092143.1-
-
-
-
1LossND
AC092718.3-
-
-
-
1LossND
AC092718.8-
-
-
-
1LossND
AC093155.3-
-
-
-
1LossND
AC093423.3-
-
-
-
1LossND
AC093827.5-
-
-
-
1LossND
AC096887.1-
-
-
-
3GainND
AC097634.4-
-
-
-
3GainND
AC097636.1-
-
-
-
3GainND
AC097637.1-
-
-
-
3GainND
AC098582.1-
-
-
-
1LossND
AC098588.1-
-
-
-
1LossND
AC098650.1-
-
-
-
3GainND
AC104109.3-
-
-
-
1LossND
AC104151.1-
-
-
-
1LossND
AC104304.1-
-
-
-
3GainND
AC104389.4-
-
-
-
1LossND
AC104389.5-
-
-
-
1LossND
AC104452.1-
-
-
-
3GainND
AC104472.3-
-
-
-
3GainND
AC108941.2-
-
-
-
1LossND
AC109583.3-
-
-
-
3GainND
AC112128.1-
-
-
-
3GainND
AC112504.2-
-
-
-
3GainND
AC113348.2-
-
-
-
1LossND
AC116366.3-
-
-
-
1LossND
AC117457.1-
-
-
-
3GainND
AC118470.1-
-
-
-
3GainND
AC118549.1-
-
-
-
1LossND
AC118553.2-
-
-
-
1LossND
AC124312.1-
-
-
-
1LossND
AC126283.2-
-
-
-
1LossND
AC131160.1-
-
-
-
3GainND
AC139491.7-
-
-
-
1LossND
AC142391.1-
-
-
-
1LossND
AC187653.1-
-
-
-
3GainND
AC239799.1-
-
-
-
3GainND
AC243547.3-
-
-
-
3GainND
AC244517.10-
-
-
-
1LossND
ACAA1-
-
-
-
3GainND
ACAD11-
-
-
-
3GainND
ACAD8-
-
-
-
1LossND
ACAD9-
-
-
-
3GainND
ACADM-
-
-
-
1LossND
ACAP2-
-
-
-
3GainND
ACAT1-
-
-
-
1LossND
ACAT2-
-
-
-
1LossND
ACBD3-
-
-
-
3GainND
ACBD6-
-
-
-
3GainND
ACD-
-
-
-
1LossND
ACER2-
-
-
-
1LossND
ACER3-
-
-
-
1LossND
ACKR1-
-
-
-
3GainND
ACKR2-
-
-
-
3GainND
ACKR4-
-
-
-
3GainND
ACOX2-
-
-
-
3GainND
ACP6-
-
-
-
3GainND
ACPP-
-
-
-
3GainND
ACRV1-
-
-
-
1LossND
ACSF3-
-
-
-
1LossND
ACSL1-
-
-
-
1LossND
ACSL6p.G641E
Missense
SNP
0.979
1LossND
ACSM2Ap.W349*
Nonsense
SNP
0.522
2-ND
ACSS3p.P532S
Missense
SNP
0.350
2-ND
ACTA1-
-
-
-
3GainND
ACTB-
-
-
-
3GainND
ACTG2p.S369F
Missense
SNP
0.488
2-ND
ACTL6A-
-
-
-
3GainND
ACTN2-
-
-
-
3GainND
ACTN3-
-
-
-
1LossND
ACTR3B-
-
-
-
3GainND
ACTR3C-
-
-
-
3GainND
ACTR8-
-
-
-
3GainND
ACTRT3-
-
-
-
3GainND
ACVR2B-
-
-
-
3GainND
ACY1-
-
-
-
3GainND
ACY3-
-
-
-
1LossND
ADAD1-
-
-
-
1LossND
ADAD2-
-
-
-
1LossND
ADAL-
-
-
-
1LossND
ADAM15-
-
-
-
3GainND
ADAM19-
-
-
-
1LossND
ADAM29-
-
-
-
1LossND
ADAMTS14p.P89S
Missense
SNP
0.464
2-ND
ADAMTS15-
-
-
-
1LossND
ADAMTS18p.G467E
Missense
SNP
0.992
1LossND
ADAMTS19-
-
-
-
1LossND
ADAMTS2-
-
-
-
1LossND
ADAMTS3-
-
-
-
1LossND
ADAMTS4-
-
-
-
3GainND
ADAMTS8-
-
-
-
1LossND
ADAMTS9-
-
-
-
3GainND
ADAMTSL1-
-
-
-
1LossND
ADAMTSL4-
-
-
-
3GainND
ADAP1-
-
-
-
3GainND
ADAR-
-
-
-
3GainND
ADARB2p.Q343*
Nonsense
SNP
0.446
2-ND
ADAT1-
-
-
-
1LossND
ADAT2-
-
-
-
1LossND
ADCK2-
-
-
-
3GainND
ADCY1p.S706F
Missense
SNP
0.542
2-ND
ADCY10-
-
-
-
3GainND
ADCY4p.C873S
Missense
SNP
0.560
2-ND
ADCY5-
-
-
-
3GainND
ADCY7-
-
-
-
1LossND
ADCY8p.L196F
Missense
SNP
0.492
2-ND
ADGB-
-
-
-
1LossND
ADGRB2p.A1386S
Missense
SNP
0.500
2-ND
ADGRE3p.G229E
Missense
SNP
0.446
2-ND
ADGRG1-
-
-
-
1LossND
ADGRG3-
-
-
-
1LossND
ADGRG4p.G2602E
Missense
SNP
0.992
NDNDND
ADGRG5-
-
-
-
1LossND
ADGRG6-
-
-
-
1LossND
ADGRG7-
-
-
-
3GainND
ADGRL2-
-
-
-
1LossND
ADGRL3-
-
-
-
1LossND
ADGRL4-
-
-
-
1LossND
ADH1A-
-
-
-
1LossND
ADH1B-
-
-
-
1LossND
ADH1C-
-
-
-
1LossND
ADH4-
-
-
-
1LossND
ADH5-
-
-
-
1LossND
ADH6-
-
-
-
1LossND
ADH7-
-
-
-
1LossND
ADIPOQ-
-
-
-
3GainND
ADIPOR1-
-
-
-
3GainND
ADORA1-
-
-
-
3GainND
ADORA3-
-
-
-
1LossND
ADPRH-
-
-
-
3GainND
ADPRHL1-
-
-
-
1LossND
ADRA1B-
-
-
-
1LossND
ADRB2-
-
-
-
1LossND
ADSS-
-
-
-
3GainND
AFAP1L1-
-
-
-
1LossND
AFDN-
-
-
-
1LossND
AFF1-
-
-
-
1LossND
AFF4-
-
-
-
1LossND
AFG1L-
-
-
-
1LossND
AFM-
-
-
-
1LossND
AFP-
-
-
-
1LossND
AGA-
-
-
-
1LossND
AGAP3-
-
-
-
3GainND
AGBL3-
-
-
-
3GainND
AGK-
-
-
-
3GainND
AGL-
-
-
-
1LossND
AGO2p.P731S
Missense
SNP
0.500
2-ND
AGPAT4p.G61D
Missense
SNP
1.000
1LossND
AGRP-
-
-
-
1LossND
AGT-
-
-
-
3GainND
AGTR1-
-
-
-
3GainND
AHCTF1-
-
-
-
3GainND
AHCYL1-
-
-
-
1LossND
AHCYL2-
-
-
-
3GainND
AHI1-
-
-
-
1LossND
AHNAK-
-
-
-
1LossND
AHSG-
-
-
-
3GainND
AIDA-
-
-
-
3GainND
AIG1-
-
-
-
1LossND
AIM2-
-
-
-
3GainND
AIMP1-
-
-
-
1LossND
AIMP2-
-
-
-
3GainND
AIP-
-
-
-
1LossND
AK2-
-
-
-
4GainND
AK3-
-
-
-
1LossND
AK5-
-
-
-
1LossND
AK9-
-
-
-
1LossND
AKAP12-
-
-
-
1LossND
AKAP7-
-
-
-
1LossND
AKNAD1-
-
-
-
1LossND
AKR1B1-
-
-
-
3GainND
AKR1B10-
-
-
-
3GainND
AKR1B15-
-
-
-
3GainND
AKR1D1-
-
-
-
3GainND
AKR1E2p.D136N
Missense
SNP
0.487
2-ND
AKT3-
-
-
-
3GainND
AKTIP-
-
-
-
1LossND
AL031315.1-
-
-
-
1LossND
AL033529.1-
-
-
-
4GainND
AL035078.4-
-
-
-
3GainND
AL049557.1-
-
-
-
1LossND
AL049629.2-
-
-
-
3GainND
AL049844.1-
-
-
-
1LossND
AL049844.3-
-
-
-
1LossND
AL096711.2-
-
-
-
1LossND
AL117348.2-
-
-
-
3GainND
AL132671.2-
-
-
-
1LossND
AL139011.2-
-
-
-
3GainND
AL139142.2-
-
-
-
3GainND
AL159163.1-
-
-
-
1LossND
AL355312.5-
-
-
-
1LossND
AL358472.6-
-
-
-
3GainND
AL358472.7-
-
-
-
3GainND
AL359736.1-
-
-
-
1LossND
AL359922.1-
-
-
-
1LossND
AL365214.3-
-
-
-
1LossND
AL445238.1-
-
-
-
3GainND
AL445989.1-
-
-
-
3GainND
AL449266.1-
-
-
-
1LossND
AL512785.2-
-
-
-
3GainND
AL590132.1-
-
-
-
3GainND
AL591806.3-
-
-
-
3GainND
AL603832.3-
-
-
-
1LossND
AL691442.1-
-
-
-
3GainND
AL713999.1-
-
-
-
3GainND
ALAS1-
-
-
-
3GainND
ALB-
-
-
-
1LossND
ALCAM-
-
-
-
3GainND
ALDH1A2-
-
-
-
1LossND
ALDH1L1-
-
-
-
3GainND
ALDH3B1-
-
-
-
1LossND
ALDH3B2-
-
-
-
1LossND
ALDH7A1-
-
-
-
1LossND
ALDH8A1-
-
-
-
1LossND
ALDH9A1-
-
-
-
3GainND
ALG14-
-
-
-
1LossND
ALG1L-
-
-
-
3GainND
ALG1L2-
-
-
-
3GainND
ALG3-
-
-
-
3GainND
ALG5-
-
-
-
1LossND
ALG8-
-
-
-
1LossND
ALG9-
-
-
-
1LossND
ALOX5AP-
-
-
-
1LossND
ALPK1-
-
-
-
1LossND
ALPK3p.G902E
Missense
SNP
0.475
2-ND
ALS2CL-
-
-
-
3GainND
ALX3-
-
-
-
1LossND
AMBNp.E319K
Missense
SNP
1.000
1LossND
AMD1-
-
-
-
1LossND
AMER2-
-
-
-
1LossND
AMFR-
-
-
-
1LossND
AMIGO1-
-
-
-
1LossND
AMIGO3-
-
-
-
3GainND
AMOTL1-
-
-
-
1LossND
AMOTL2-
-
-
-
3GainND
AMPD1-
-
-
-
1LossND
AMPD2-
-
-
-
1LossND
AMT-
-
-
-
3GainND
AMTN-
-
-
-
1LossND
AMY2A-
-
-
-
1LossND
AMY2Bp.R210K
Missense
SNP
0.988
1LossND
AMZ1-
-
-
-
3GainND
ANAPC10-
-
-
-
1LossND
ANAPC13-
-
-
-
3GainND
ANAPC15-
-
-
-
1LossND
ANGEL2-
-
-
-
3GainND
ANGPTL1-
-
-
-
3GainND
ANHX-
-
-
-
1LossND
ANK1p.D124N
Missense
SNP
0.472
2-ND
ANK2-
-
-
-
1LossND
ANKEF1p.D481G
Missense
SNP
0.524
2-ND
ANKFN1p.L167I
Missense
SNP
0.522
2-ND
ANKHD1-
-
-
-
1LossND
ANKHD1-EIF4EBP3-
-
-
-
1LossND
ANKK1-
-
-
-
1LossND
ANKLE2-
-
-
-
1LossND
ANKRD10-
-
-
-
1LossND
ANKRD11-
-
-
-
1LossND
ANKRD13C-
-
-
-
1LossND
ANKRD13D-
-
-
-
1LossND
ANKRD17-
-
-
-
1LossND
ANKRD28-
-
-
-
3GainND
ANKRD31p.Q1249*
p.N1248I
Nonsense
Missense
SNP
SNP
0.433
0.439
2-ND
ANKRD34A-
-
-
-
3GainND
ANKRD35-
-
-
-
3GainND
ANKRD37-
-
-
-
1LossND
ANKRD42-
-
-
-
1LossND
ANKRD45-
-
-
-
3GainND
ANKRD49-
-
-
-
1LossND
ANKRD50-
-
-
-
1LossND
ANKRD61-
-
-
-
3GainND
ANKRD7-
-
-
-
3GainND
ANKS6p.G543E
Missense
SNP
0.456
2-ND
ANKUB1-
-
-
-
3GainND
ANO1-
-
-
-
1LossND
ANO10-
-
-
-
3GainND
ANO3-
-
-
-
3GainND
ANO4p.R916Q
Missense
SNP
0.450
2-ND
ANO5-
-
-
-
3GainND
ANO9-
-
-
-
1LossND
ANP32E-
-
-
-
3GainND
ANTXR2-
-
-
-
1LossND
ANXA10-
-
-
-
1LossND
ANXA3-
-
-
-
1LossND
ANXA5-
-
-
-
1LossND
ANXA6-
-
-
-
1LossND
ANXA9-
-
-
-
3GainND
AOC1-
-
-
-
3GainND
AP000646.1-
-
-
-
1LossND
AP000721.1-
-
-
-
1LossND
AP000781.2-
-
-
-
1LossND
AP000812.4-
-
-
-
1LossND
AP000812.5-
-
-
-
1LossND
AP000944.2-
-
-
-
1LossND
AP001267.5-
-
-
-
1LossND
AP001273.2-
-
-
-
1LossND
AP001458.2-
-
-
-
1LossND
AP001781.2-
-
-
-
1LossND
AP001931.1-
-
-
-
1LossND
AP002373.1-
-
-
-
1LossND
AP002495.1-
-
-
-
1LossND
AP002512.3-
-
-
-
1LossND
AP002748.4-
-
-
-
1LossND
AP002884.3-
-
-
-
1LossND
AP002990.1-
-
-
-
1LossND
AP003108.2-
-
-
-
1LossND
AP003419.1-
-
-
-
1LossND
AP1AR-
-
-
-
1LossND
AP1G1-
-
-
-
1LossND
AP2A1p.S238F
Missense
SNP
0.511
2-ND
AP2A2-
-
-
-
1LossND
AP2M1-
-
-
-
3GainND
AP3D1p.S991F
Missense
SNP
0.447
2-ND
AP3S1-
-
-
-
1LossND
AP4B1-
-
-
-
1LossND
AP4E1-
-
-
-
1LossND
AP5B1-
-
-
-
1LossND
AP5Z1-
-
-
-
3GainND
APBB1p.P246L
Missense
SNP
0.108
1LossND
APBB3-
-
-
-
1LossND
APCp.K1007*
Nonsense
SNP
1.000
1LossND
APCS-
-
-
-
3GainND
APEH-
-
-
-
3GainND
APH1A-
-
-
-
3GainND
APIP-
-
-
-
3GainND
APLNR-
-
-
-
1LossND
APLP2-
-
-
-
1LossND
APOA1-
-
-
-
1LossND
APOA2-
-
-
-
3GainND
APOA4-
-
-
-
1LossND
APOA5-
-
-
-
1LossND
APOBEC4-
-
-
-
3GainND
APOC3-
-
-
-
1LossND
APOD-
-
-
-
3GainND
APPL1-
-
-
-
3GainND
APRT-
-
-
-
1LossND
AQP10-
-
-
-
3GainND
AQP11-
-
-
-
1LossND
AQP9-
-
-
-
1LossND
ARAP3-
-
-
-
1LossND
ARCN1-
-
-
-
1LossND
AREG-
-
-
-
1LossND
ARF1-
-
-
-
3GainND
ARF4-
-
-
-
3GainND
ARF5-
-
-
-
3GainND
ARFGAP1p.S98F
Missense
SNP
0.434
2-ND
ARFGEF3-
-
-
-
1LossND
ARFIP1-
-
-
-
1LossND
ARFIP2-
-
-
-
1LossND
ARG1-
-
-
-
1LossND
ARGFX-
-
-
-
3GainND
ARGLU1-
-
-
-
1LossND
ARHGAP10-
-
-
-
1LossND
ARHGAP18-
-
-
-
1LossND
ARHGAP20-
-
-
-
1LossND
ARHGAP22p.S447F
Missense
DNP
0.445
2-ND
ARHGAP24-
-
-
-
1LossND
ARHGAP26-
-
-
-
1LossND
ARHGAP29-
-
-
-
1LossND
ARHGAP30p.E1058K
Missense
SNP
0.677
3GainND
ARHGAP31-
-
-
-
3GainND
ARHGAP32-
-
-
-
1LossND
ARHGEF11-
-
-
-
3GainND
ARHGEF12-
-
-
-
1LossND
ARHGEF2-
-
-
-
3GainND
ARHGEF26-
-
-
-
3GainND
ARHGEF3-
-
-
-
3GainND
ARHGEF37-
-
-
-
1LossND
ARHGEF38-
-
-
-
1LossND
ARHGEF5-
-
-
-
3GainND
ARHGEF7-
-
-
-
1LossND
ARID1Ap.Q1458*
Nonsense
SNP
0.492
2-ND
ARID1B-
-
-
-
1LossND
ARID4B-
-
-
-
3GainND
ARID5Ap.P544S
Missense
DNP
0.501
2-ND
ARIH2-
-
-
-
3GainND
ARIH2OS-
-
-
-
3GainND
ARL10-
-
-
-
1LossND
ARL13B-
-
-
-
3GainND
ARL14-
-
-
-
3GainND
ARL14EP-
-
-
-
3GainND
ARL14EPL-
-
-
-
1LossND
ARL2-
-
-
-
1LossND
ARL2-SNX15-
-
-
-
1LossND
ARL2BP-
-
-
-
1LossND
ARL6-
-
-
-
3GainND
ARL6IP5-
-
-
-
3GainND
ARL8A-
-
-
-
3GainND
ARL8B-
-
-
-
3GainND
ARL9-
-
-
-
1LossND
ARMC2-
-
-
-
1LossND
ARMC8-
-
-
-
3GainND
ARMT1-
-
-
-
1LossND
ARNT-
-
-
-
3GainND
ARNTL-
-
-
-
3GainND
ARPC4-
-
-
-
3GainND
ARPC4-TTLL3-
-
-
-
3GainND
ARPC5-
-
-
-
3GainND
ARPP19-
-
-
-
1LossND
ARPP21-
-
-
-
3GainND
ARRB1-
-
-
-
1LossND
ARSFp.E252K
Missense
SNP
1.000
NDNDND
ARSI-
-
-
-
1LossND
ARSJ-
-
-
-
1LossND
ART1-
-
-
-
1LossND
ART3-
-
-
-
1LossND
ART5-
-
-
-
1LossND
ARV1-
-
-
-
3GainND
ASB10-
-
-
-
3GainND
ASB14-
-
-
-
3GainND
ASB15-
-
-
-
3GainND
ASB17-
-
-
-
1LossND
ASB5-
-
-
-
1LossND
ASCC3-
-
-
-
1LossND
ASCL2p.G19D
Missense
SNP
0.956
1LossND
ASF1A-
-
-
-
1LossND
ASH1L-
-
-
-
3GainND
ASIC3-
-
-
-
3GainND
ASIC5-
-
-
-
1LossND
ASPM-
-
-
-
3GainND
ASRGL1-
-
-
-
1LossND
ASTE1-
-
-
-
3GainND
ASTN1p.G524R
Missense
SNP
0.357
3GainND
ASUNp.E282K
Missense
DNP
0.385
NDNDND
ASZ1-
-
-
-
3GainND
ATAT1p.R28*
Nonsense
DNP
0.476
2-ND
ATF3-
-
-
-
3GainND
ATF6-
-
-
-
3GainND
ATF6Bp.L698P
Missense
SNP
0.455
2-ND
ATG12-
-
-
-
1LossND
ATG2A-
-
-
-
1LossND
ATG3-
-
-
-
3GainND
ATG5-
-
-
-
1LossND
ATG7-
-
-
-
3GainND
ATG9B-
-
-
-
3GainND
ATL3-
-
-
-
1LossND
ATM-
-
-
-
1LossND
ATMIN-
-
-
-
1LossND
ATOH1-
-
-
-
1LossND
ATOH8p.L233F
Missense
SNP
0.488
2-ND
ATOX1-
-
-
-
1LossND
ATP10A-
-
-
-
1LossND
ATP10B-
-
-
-
1LossND
ATP11A-
-
-
-
1LossND
ATP11B-
-
-
-
3GainND
ATP12A-
-
-
-
1LossND
ATP13A3-
-
-
-
3GainND
ATP13A4-
-
-
-
3GainND
ATP13A5-
-
-
-
3GainND
ATP1A1-
-
-
-
1LossND
ATP1A2p.S413F
Missense
DNP
0.547
3GainND
ATP1A4-
-
-
-
3GainND
ATP1B1-
-
-
-
3GainND
ATP1B3p.Q166*
Nonsense
SNP
0.604
3GainND
ATP2B2-
-
-
-
3GainND
ATP2B4-
-
-
-
3GainND
ATP2C1-
-
-
-
3GainND
ATP2C2-
-
-
-
1LossND
ATP4B-
-
-
-
1LossND
ATP5MG-
-
-
-
1LossND
ATP5PB-
-
-
-
1LossND
ATP6V0A4-
-
-
-
3GainND
ATP6V0D1-
-
-
-
1LossND
ATP6V0E1-
-
-
-
1LossND
ATP6V0E2-
-
-
-
3GainND
ATP6V1A-
-
-
-
3GainND
ATP6V1F-
-
-
-
3GainND
ATP6V1FNB-
-
-
-
3GainND
ATP6V1G3-
-
-
-
3GainND
ATP8A2-
-
-
-
1LossND
ATP8B2-
-
-
-
3GainND
ATP8B4-
-
-
-
1LossND
ATR-
-
-
-
3GainND
ATRIP-
-
-
-
3GainND
ATRNL1p.R766K
Missense
SNP
0.495
2-ND
ATXN1p.S262F
Missense
SNP
0.484
2-ND
ATXN1L-
-
-
-
1LossND
ATXN7-
-
-
-
3GainND
ATXN7L2-
-
-
-
1LossND
AUP1p.G128S
Missense
DNP
0.353
2-ND
AUTS2p.P1107S
Missense
SNP
0.421
2-ND
AVPR1B-
-
-
-
3GainND
AXDND1-
-
-
-
3GainND
AZI2-
-
-
-
3GainND
AZIN1p.P272L
Missense
SNP
0.400
2-ND
AZIN2-
-
-
-
4GainND
B2M-
-
-
-
1LossND
B3GALNT1-
-
-
-
3GainND
B3GALNT2-
-
-
-
3GainND
B3GALT2-
-
-
-
3GainND
B3GAT1-
-
-
-
1LossND
B3GAT3-
-
-
-
1LossND
B3GLCT-
-
-
-
1LossND
B3GNT5-
-
-
-
3GainND
B3GNT6-
-
-
-
1LossND
B3GNT9-
-
-
-
1LossND
B4GALNT4-
-
-
-
1LossND
B4GALT3-
-
-
-
3GainND
B4GALT4-
-
-
-
3GainND
B4GALT7-
-
-
-
1LossND
B4GAT1-
-
-
-
1LossND
BACE1-
-
-
-
1LossND
BAD-
-
-
-
1LossND
BANF1-
-
-
-
1LossND
BANK1-
-
-
-
1LossND
BANP-
-
-
-
1LossND
BAP1-
-
-
-
3GainND
BARHL2-
-
-
-
1LossND
BARX2-
-
-
-
1LossND
BATF2-
-
-
-
1LossND
BATF3-
-
-
-
3GainND
BBOX1-
-
-
-
3GainND
BBS1-
-
-
-
1LossND
BBS12-
-
-
-
1LossND
BBS2-
-
-
-
1LossND
BBS7-
-
-
-
1LossND
BBX-
-
-
-
3GainND
BCAN-
-
-
-
3GainND
BCAR1-
-
-
-
1LossND
BCAR3p.F224L
Missense
SNP
0.980
1LossND
BCAS2-
-
-
-
1LossND
BCHE-
-
-
-
3GainND
BCL10-
-
-
-
1LossND
BCL2L10-
-
-
-
1LossND
BCL2L15-
-
-
-
1LossND
BCL6-
-
-
-
3GainND
BCL9-
-
-
-
3GainND
BCL9L-
-
-
-
1LossND
BCLAF1-
-
-
-
1LossND
BCO1-
-
-
-
1LossND
BCO2p.P153L
Missense
SNP
1.000
1LossND
BDH1-
-
-
-
3GainND
BDH2-
-
-
-
1LossND
BDNF-
-
-
-
3GainND
BEAN1-
-
-
-
1LossND
BEND3-
-
-
-
1LossND
BEST1-
-
-
-
1LossND
BET1L-
-
-
-
1LossND
BFSP2-
-
-
-
3GainND
BGLAP-
-
-
-
3GainND
BHLHE40p.P320S
p.P374L
Missense
Missense
SNP
SNP
0.321
0.640
3GainND
BICDL2p.R487C
Missense
SNP
0.532
2-ND
BIVM-
-
-
-
1LossND
BIVM-ERCC5-
-
-
-
1LossND
BLID-
-
-
-
1LossND
BLOC1S6-
-
-
-
1LossND
BLZF1-
-
-
-
3GainND
BMP2K-
-
-
-
1LossND
BMP3-
-
-
-
1LossND
BMP5p.S256N
Missense
SNP
0.471
2-ND
BMPERp.E472K
Missense
SNP
0.513
2-ND
BMPR1B-
-
-
-
1LossND
BMT2-
-
-
-
3GainND
BNC2-
-
-
-
1LossND
BNIP1-
-
-
-
1LossND
BNIPL-
-
-
-
3GainND
BOC-
-
-
-
3GainND
BOD1-
-
-
-
1LossND
BOLA1-
-
-
-
3GainND
BPGM-
-
-
-
3GainND
BPIFB6p.G84R
Missense
SNP
0.407
2-ND
BPNT1-
-
-
-
3GainND
BRAFp.G466E
Missense
SNP
0.711
3GainND
BRAT1-
-
-
-
3GainND
BRCA2-
-
-
-
1LossND
BRD7-
-
-
-
1LossND
BRD8-
-
-
-
1LossND
BRD9p.P157S
Missense
SNP
0.457
2-ND
BRDT-
-
-
-
1LossND
BRINP2p.E659K
Missense
SNP
0.334
3GainND
BRINP3p.K541R
Missense
SNP
0.396
3GainND
BRK1-
-
-
-
3GainND
BRMS1-
-
-
-
1LossND
BROX-
-
-
-
3GainND
BRPF1-
-
-
-
3GainND
BRSK2-
-
-
-
1LossND
BSCL2-
-
-
-
1LossND
BSN-
-
-
-
3GainND
BSX-
-
-
-
1LossND
BTBD10-
-
-
-
3GainND
BTBD18-
-
-
-
1LossND
BTBD19p.P179L
Missense
SNP
0.500
2-ND
BTBD8-
-
-
-
1LossND
BTC-
-
-
-
1LossND
BTD-
-
-
-
3GainND
BTG2-
-
-
-
3GainND
BTG4-
-
-
-
1LossND
BTLA-
-
-
-
3GainND
BTNL3p.R281K
Missense
SNP
1.000
1LossND
BTNL8p.P373S
Missense
SNP
1.000
1LossND
BTNL9-
-
-
-
1LossND
BUD13-
-
-
-
1LossND
BVES-
-
-
-
1LossND
C11orf1-
-
-
-
1LossND
C11orf21-
-
-
-
1LossND
C11orf24-
-
-
-
1LossND
C11orf40-
-
-
-
1LossND
C11orf42-
-
-
-
1LossND
C11orf45-
-
-
-
1LossND
C11orf52-
-
-
-
1LossND
C11orf53-
-
-
-
1LossND
C11orf54-
-
-
-
1LossND
C11orf58-
-
-
-
3GainND
C11orf65-
-
-
-
1LossND
C11orf68-
-
-
-
1LossND
C11orf71-
-
-
-
1LossND
C11orf74-
-
-
-
3GainND
C11orf80-
-
-
-
1LossND
C11orf86-
-
-
-
1LossND
C11orf87-
-
-
-
1LossND
C11orf88-
-
-
-
1LossND
C11orf91-
-
-
-
3GainND
C11orf95-
-
-
-
1LossND
C11orf97-
-
-
-
1LossND
C11orf98-
-
-
-
1LossND
C12orf60p.G219R
Missense
SNP
0.472
2-ND
C15orf48-
-
-
-
1LossND
C15orf65-
-
-
-
1LossND
C16orf46-
-
-
-
1LossND
C16orf70-
-
-
-
1LossND
C16orf74-
-
-
-
1LossND
C16orf78-
-
-
-
1LossND
C16orf82p.W106*
Nonsense
SNP
0.479
NDNDND
C16orf86-
-
-
-
1LossND
C16orf87-
-
-
-
1LossND
C16orf95-
-
-
-
1LossND
C1GALT1-
-
-
-
3GainND
C1orf100-
-
-
-
3GainND
C1orf105-
-
-
-
3GainND
C1orf112-
-
-
-
3GainND
C1orf115-
-
-
-
3GainND
C1orf116-
-
-
-
3GainND
C1orf131-
-
-
-
3GainND
C1orf141-
-
-
-
1LossND
C1orf146-
-
-
-
1LossND
C1orf162-
-
-
-
1LossND
C1orf189-
-
-
-
3GainND
C1orf194-
-
-
-
1LossND
C1orf198-
-
-
-
3GainND
C1orf21-
-
-
-
3GainND
C1orf226-
-
-
-
3GainND
C1orf35-
-
-
-
3GainND
C1orf43-
-
-
-
3GainND
C1orf52-
-
-
-
1LossND
C1orf53-
-
-
-
3GainND
C1orf54-
-
-
-
3GainND
C1orf56-
-
-
-
3GainND
C1orf61-
-
-
-
3GainND
C1orf68-
-
-
-
3GainND
C1orf74-
-
-
-
3GainND
C1QTNF2-
-
-
-
1LossND
C1QTNF5-
-
-
-
1LossND
C1QTNF7p.G23E
Missense
SNP
0.474
2-ND
C1QTNF9-
-
-
-
1LossND
C1QTNF9B-
-
-
-
1LossND
C22orf15p.D101N
Missense
SNP
0.455
2-ND
C2CD2L-
-
-
-
1LossND
C2CD4D-
-
-
-
3GainND
C2orf16p.E1273K
Missense
SNP
0.524
2-ND
C2orf71p.R586K
Missense
SNP
0.521
NDNDND
C2orf80p.H127Y
Missense
SNP
0.360
2-ND
C3AR1p.S78L
Missense
SNP
0.554
2-ND
C3orf14-
-
-
-
3GainND
C3orf18-
-
-
-
3GainND
C3orf20-
-
-
-
3GainND
C3orf22-
-
-
-
3GainND
C3orf30-
-
-
-
3GainND
C3orf33-
-
-
-
3GainND
C3orf38-
-
-
-
3GainND
C3orf49-
-
-
-
3GainND
C3orf52-
-
-
-
3GainND
C3orf56-
-
-
-
3GainND
C3orf58-
-
-
-
3GainND
C3orf62-
-
-
-
3GainND
C3orf67-
-
-
-
3GainND
C3orf70-
-
-
-
3GainND
C3orf80-
-
-
-
3GainND
C3orf84-
-
-
-
3GainND
C3orf85-
-
-
-
3GainND
C4BPA-
-
-
-
3GainND
C4BPB-
-
-
-
3GainND
C4orf17-
-
-
-
1LossND
C4orf3-
-
-
-
1LossND
C4orf33-
-
-
-
1LossND
C4orf36-
-
-
-
1LossND
C4orf45-
-
-
-
1LossND
C4orf46-
-
-
-
1LossND
C4orf47-
-
-
-
1LossND
C4orf51-
-
-
-
1LossND
C4orf54-
-
-
-
1LossND
C5orf15-
-
-
-
1LossND
C5orf24-
-
-
-
1LossND
C5orf42p.I651V
Missense
SNP
0.451
NDNDND
C5orf46-
-
-
-
1LossND
C5orf47-
-
-
-
1LossND
C5orf52-
-
-
-
1LossND
C5orf58-
-
-
-
1LossND
C5orf60-
-
-
-
1LossND
C5orf63-
-
-
-
1LossND
C6orf118-
-
-
-
1LossND
C6orf120-
-
-
-
1LossND
C6orf203-
-
-
-
1LossND
C6orf58-
-
-
-
1LossND
C7orf26-
-
-
-
3GainND
C7orf33-
-
-
-
3GainND
C7orf50-
-
-
-
3GainND
C7orf55-LUC7L2-
-
-
-
3GainND
C7orf77-
-
-
-
3GainND
C8orf22p.S84L
Missense
SNP
0.489
NDNDND
C9orf66-
-
-
-
1LossND
C9orf72p.L72F
Missense
SNP
0.496
2-ND
C9orf92-
-
-
-
1LossND
CA14-
-
-
-
3GainND
CA5A-
-
-
-
1LossND
CA7-
-
-
-
1LossND
CABP1p.E346K
Missense
SNP
0.480
2-ND
CABP2p.E79K
Missense
SNP
1.000
1LossND
CABP4-
-
-
-
1LossND
CABS1-
-
-
-
1LossND
CACNA1Cp.R462Q
Missense
SNP
0.442
2-ND
CACNA1D-
-
-
-
3GainND
CACNA1E-
-
-
-
3GainND
CACNA1S-
-
-
-
3GainND
CACNA2D2-
-
-
-
3GainND
CACNA2D3-
-
-
-
3GainND
CACYBP-
-
-
-
3GainND
CADM1-
-
-
-
1LossND
CADM2-
-
-
-
3GainND
CADM3-
-
-
-
3GainND
CADPS-
-
-
-
3GainND
CADPS2-
-
-
-
3GainND
CALB2-
-
-
-
1LossND
CALCA-
-
-
-
3GainND
CALCB-
-
-
-
3GainND
CALD1-
-
-
-
3GainND
CALHM4-
-
-
-
1LossND
CALHM5-
-
-
-
1LossND
CALHM6-
-
-
-
1LossND
CALU-
-
-
-
3GainND
CAMK1-
-
-
-
3GainND
CAMK1G-
-
-
-
3GainND
CAMK2A-
-
-
-
1LossND
CAMK2D-
-
-
-
1LossND
CAMK2N2-
-
-
-
3GainND
CAMK4-
-
-
-
1LossND
CAMKV-
-
-
-
3GainND
CAMLG-
-
-
-
1LossND
CAMP-
-
-
-
3GainND
CAMSAP2-
-
-
-
3GainND
CAND2-
-
-
-
3GainND
CANX-
-
-
-
1LossND
CAPN1-
-
-
-
1LossND
CAPN2-
-
-
-
3GainND
CAPN3-
-
-
-
1LossND
CAPN5-
-
-
-
1LossND
CAPN7-
-
-
-
3GainND
CAPN8-
-
-
-
3GainND
CAPN9-
-
-
-
3GainND
CAPNS2-
-
-
-
1LossND
CAPRIN1-
-
-
-
3GainND
CAPZA1-
-
-
-
1LossND
CAPZA2-
-
-
-
3GainND
CARD10-
-
-
-
3GainND
CARD11-
-
-
-
3GainND
CARD16-
-
-
-
1LossND
CARD17-
-
-
-
1LossND
CARD18-
-
-
-
1LossND
CARMIL2-
-
-
-
1LossND
CARNS1-
-
-
-
1LossND
CARS-
-
-
-
1LossND
CARS2-
-
-
-
1LossND
CASC4-
-
-
-
1LossND
CASP1-
-
-
-
1LossND
CASP12-
-
-
-
1LossND
CASP2-
-
-
-
3GainND
CASP3-
-
-
-
1LossND
CASP4-
-
-
-
1LossND
CASP5-
-
-
-
1LossND
CASP6-
-
-
-
1LossND
CASQ1-
-
-
-
3GainND
CASQ2-
-
-
-
1LossND
CASRp.S271F
Missense
SNP
0.672
3GainND
CAT-
-
-
-
3GainND
CATSPER1-
-
-
-
1LossND
CATSPER2-
-
-
-
1LossND
CATSPER3-
-
-
-
1LossND
CATSPERE-
-
-
-
3GainND
CATSPERZ-
-
-
-
1LossND
CAV1-
-
-
-
3GainND
CAV2-
-
-
-
3GainND
CAV3-
-
-
-
3GainND
CAVIN3-
-
-
-
1LossND
CBFA2T3-
-
-
-
1LossND
CBFB-
-
-
-
1LossND
CBL-
-
-
-
1LossND
CBLB-
-
-
-
3GainND
CBLN1-
-
-
-
1LossND
CBR4-
-
-
-
1LossND
CBWD1-
-
-
-
1LossND
CBY3-
-
-
-
1LossND
CCDC102A-
-
-
-
1LossND
CCDC102Bp.E282K
Missense
SNP
0.397
2-ND
CCDC105p.R211K
Missense
SNP
0.500
2-ND
CCDC110-
-
-
-
1LossND
CCDC112-
-
-
-
1LossND
CCDC113-
-
-
-
1LossND
CCDC116p.E194*
Nonsense
SNP
0.539
2-ND
CCDC12-
-
-
-
3GainND
CCDC13-
-
-
-
3GainND
CCDC136-
-
-
-
3GainND
CCDC14-
-
-
-
3GainND
CCDC15p.S196L
Missense
SNP
1.000
1LossND
CCDC153-
-
-
-
1LossND
CCDC158-
-
-
-
1LossND
CCDC168-
-
-
-
1LossND
CCDC169-
-
-
-
1LossND
CCDC169-SOHLH2-
-
-
-
1LossND
CCDC170-
-
-
-
1LossND
CCDC171-
-
-
-
1LossND
CCDC174-
-
-
-
3GainND
CCDC179-
-
-
-
3GainND
CCDC18-
-
-
-
1LossND
CCDC181p.D214N
p.L92F
Missense
Missense
SNP
SNP
0.547
0.314
3GainND
CCDC182p.H74Y
Missense
SNP
0.480
2-ND
CCDC185-
-
-
-
3GainND
CCDC190-
-
-
-
3GainND
CCDC191-
-
-
-
3GainND
CCDC28A-
-
-
-
1LossND
CCDC34-
-
-
-
3GainND
CCDC36-
-
-
-
3GainND
CCDC39-
-
-
-
3GainND
CCDC50-
-
-
-
3GainND
CCDC51-
-
-
-
3GainND
CCDC54-
-
-
-
3GainND
CCDC58-
-
-
-
3GainND
CCDC66-
-
-
-
3GainND
CCDC69-
-
-
-
1LossND
CCDC71-
-
-
-
3GainND
CCDC71Lp.P168S
Missense
DNP
0.436
2-ND
CCDC73-
-
-
-
3GainND
CCDC80-
-
-
-
3GainND
CCDC81-
-
-
-
1LossND
CCDC82-
-
-
-
3GainND
CCDC83-
-
-
-
1LossND
CCDC84-
-
-
-
1LossND
CCDC85B-
-
-
-
1LossND
CCDC86-
-
-
-
1LossND
CCDC87-
-
-
-
1LossND
CCDC88B-
-
-
-
1LossND
CCDC89-
-
-
-
1LossND
CCDC90B-
-
-
-
1LossND
CCK-
-
-
-
3GainND
CCKBR-
-
-
-
1LossND
CCL17-
-
-
-
1LossND
CCL22-
-
-
-
1LossND
CCNA1p.N49S
Missense
SNP
1.000
1LossND
CCNA2-
-
-
-
1LossND
CCNC-
-
-
-
1LossND
CCND1-
-
-
-
1LossND
CCNDBP1-
-
-
-
1LossND
CCNG1-
-
-
-
1LossND
CCNG2-
-
-
-
1LossND
CCNI-
-
-
-
1LossND
CCNI2-
-
-
-
1LossND
CCNJL-
-
-
-
1LossND
CCNL1-
-
-
-
3GainND
CCPG1-
-
-
-
1LossND
CCR1-
-
-
-
3GainND
CCR2-
-
-
-
3GainND
CCR3-
-
-
-
3GainND
CCR4-
-
-
-
3GainND
CCR5-
-
-
-
3GainND
CCR6-
-
-
-
1LossND
CCR8-
-
-
-
3GainND
CCR9-
-
-
-
3GainND
CCRL2-
-
-
-
3GainND
CCS-
-
-
-
1LossND
CCSAP-
-
-
-
3GainND
CCSER1-
-
-
-
1LossND
CCT3-
-
-
-
3GainND
CCZ1-
-
-
-
3GainND
CCZ1B-
-
-
-
3GainND
CD101-
-
-
-
1LossND
CD14-
-
-
-
1LossND
CD151-
-
-
-
1LossND
CD160-
-
-
-
3GainND
CD163p.E911K
Missense
SNP
0.699
2-ND
CD164-
-
-
-
1LossND
CD1A-
-
-
-
3GainND
CD1Bp.T183I
Missense
SNP
0.657
3GainND
CD1C-
-
-
-
3GainND
CD1D-
-
-
-
3GainND
CD1E-
-
-
-
3GainND
CD2-
-
-
-
1LossND
CD200-
-
-
-
3GainND
CD200R1-
-
-
-
3GainND
CD200R1L-
-
-
-
3GainND
CD24-
-
-
-
1LossND
CD244-
-
-
-
3GainND
CD247-
-
-
-
3GainND
CD248-
-
-
-
1LossND
CD274-
-
-
-
1LossND
CD300LBp.E63K
Missense
SNP
0.509
2-ND
CD34-
-
-
-
3GainND
CD3D-
-
-
-
1LossND
CD3E-
-
-
-
1LossND
CD3EAPp.P288S
Missense
SNP
0.491
2-ND
CD3G-
-
-
-
1LossND
CD44-
-
-
-
3GainND
CD46-
-
-
-
3GainND
CD47-
-
-
-
3GainND
CD48-
-
-
-
3GainND
CD5-
-
-
-
1LossND
CD53-
-
-
-
1LossND
CD55-
-
-
-
3GainND
CD58-
-
-
-
1LossND
CD59-
-
-
-
3GainND
CD5L-
-
-
-
3GainND
CD6-
-
-
-
1LossND
CD74-
-
-
-
1LossND
CD80-
-
-
-
3GainND
CD81-
-
-
-
1LossND
CD84-
-
-
-
3GainND
CD86p.W248*
Nonsense
DNP
0.645
3GainND
CD93p.R312C
p.A244T
Missense
Missense
SNP
SNP
0.477
0.487
2-ND
CD96-
-
-
-
3GainND
CDAN1-
-
-
-
1LossND
CDC14A-
-
-
-
1LossND
CDC16-
-
-
-
1LossND
CDC23-
-
-
-
1LossND
CDC25A-
-
-
-
3GainND
CDC25C-
-
-
-
1LossND
CDC37L1-
-
-
-
1LossND
CDC40-
-
-
-
1LossND
CDC42BPA-
-
-
-
3GainND
CDC42BPG-
-
-
-
1LossND
CDC42EP1-
-
-
-
3GainND
CDC42EP2-
-
-
-
1LossND
CDC42SE1-
-
-
-
3GainND
CDC42SE2-
-
-
-
1LossND
CDC7-
-
-
-
1LossND
CDC73-
-
-
-
3GainND
CDCA5-
-
-
-
1LossND
CDCP1-
-
-
-
3GainND
CDH1-
-
-
-
1LossND
CDH10-
-
-
-
3GainND
CDH11-
-
-
-
1LossND
CDH12p.R690C
Missense
SNP
0.436
3GainND
CDH13-
-
-
-
1LossND
CDH15-
-
-
-
1LossND
CDH16-
-
-
-
1LossND
CDH18-
-
-
-
3GainND
CDH24p.P151S
Missense
SNP
0.475
2-ND
CDH3-
-
-
-
1LossND
CDH5-
-
-
-
1LossND
CDH6-
-
-
-
3GainND
CDH8-
-
-
-
1LossND
CDH9-
-
-
-
3GainND
CDHR2-
-
-
-
1LossND
CDHR4-
-
-
-
3GainND
CDHR5-
-
-
-
1LossND
CDK10-
-
-
-
1LossND
CDK12p.Q1368*
Nonsense
SNP
0.493
2-ND
CDK13p.S1152F
Missense
SNP
0.410
2-ND
CDK18-
-
-
-
3GainND
CDK19-
-
-
-
1LossND
CDK2AP2-
-
-
-
1LossND
CDK5-
-
-
-
3GainND
CDK5RAP2p.S1447F
Missense
SNP
0.386
2-ND
CDK8-
-
-
-
1LossND
CDKL2-
-
-
-
1LossND
CDKL3-
-
-
-
1LossND
CDKN1C-
-
-
-
1LossND
CDKN2A-
-
-
-
1LossND
CDKN2AIP-
-
-
-
1LossND
CDKN2AIPNL-
-
-
-
1LossND
CDKN2B-
-
-
-
1LossND
CDO1-
-
-
-
1LossND
CDON-
-
-
-
1LossND
CDS1-
-
-
-
1LossND
CDT1-
-
-
-
1LossND
CDV3-
-
-
-
3GainND
CDX1-
-
-
-
1LossND
CDX2-
-
-
-
1LossND
CDYL2-
-
-
-
1LossND
CELF3-
-
-
-
3GainND
CELSR2-
-
-
-
1LossND
CELSR3-
-
-
-
3GainND
CEND1-
-
-
-
1LossND
CENPBD1-
-
-
-
1LossND
CENPC-
-
-
-
1LossND
CENPE-
-
-
-
1LossND
CENPF-
-
-
-
3GainND
CENPJ-
-
-
-
1LossND
CENPL-
-
-
-
3GainND
CENPN-
-
-
-
1LossND
CENPT-
-
-
-
1LossND
CENPU-
-
-
-
1LossND
CENPW-
-
-
-
1LossND
CEP120-
-
-
-
1LossND
CEP135-
-
-
-
1LossND
CEP152-
-
-
-
1LossND
CEP164-
-
-
-
1LossND
CEP170-
-
-
-
3GainND
CEP19-
-
-
-
3GainND
CEP192p.T680M
Missense
SNP
0.492
2-ND
CEP295-
-
-
-
1LossND
CEP350-
-
-
-
3GainND
CEP41-
-
-
-
3GainND
CEP44-
-
-
-
1LossND
CEP57-
-
-
-
1LossND
CEP57L1-
-
-
-
1LossND
CEP63-
-
-
-
3GainND
CEP70-
-
-
-
3GainND
CEP85L-
-
-
-
1LossND
CEP97-
-
-
-
3GainND
CEPT1-
-
-
-
1LossND
CER1-
-
-
-
1LossND
CERS2-
-
-
-
3GainND
CES1-
-
-
-
1LossND
CES2-
-
-
-
1LossND
CES3-
-
-
-
1LossND
CES4A-
-
-
-
1LossND
CES5A-
-
-
-
1LossND
CETP-
-
-
-
1LossND
CFAP100-
-
-
-
3GainND
CFAP126-
-
-
-
3GainND
CFAP20-
-
-
-
1LossND
CFAP299-
-
-
-
1LossND
CFAP44-
-
-
-
3GainND
CFAP45-
-
-
-
3GainND
CFAP46p.M2069I
Missense
SNP
0.692
2-ND
CFAP70p.S1032L
Missense
SNP
0.531
2-ND
CFAP97-
-
-
-
1LossND
CFDP1-
-
-
-
1LossND
CFH-
-
-
-
3GainND
CFHR1-
-
-
-
1LossND
CFHR2-
-
-
-
3GainND
CFHR3-
-
-
-
1LossND
CFHR4-
-
-
-
3GainND
CFHR5-
-
-
-
3GainND
CFI-
-
-
-
1LossND
CFL1-
-
-
-
1LossND
CFTRp.W846*
Nonsense
SNP
0.670
3GainND
CGGBP1-
-
-
-
3GainND
CGN-
-
-
-
3GainND
CGNL1-
-
-
-
1LossND
CHADLp.P278L
Missense
DNP
0.444
2-ND
CHAMP1-
-
-
-
1LossND
CHCHD3-
-
-
-
3GainND
CHCHD4-
-
-
-
3GainND
CHCHD6-
-
-
-
3GainND
CHD1L-
-
-
-
3GainND
CHD9-
-
-
-
1LossND
CHDH-
-
-
-
3GainND
CHEK1-
-
-
-
1LossND
CHFR-
-
-
-
1LossND
CHI3L1-
-
-
-
3GainND
CHI3L2-
-
-
-
1LossND
CHIA-
-
-
-
1LossND
CHIC2-
-
-
-
1LossND
CHID1-
-
-
-
1LossND
CHIT1-
-
-
-
3GainND
CHKA-
-
-
-
1LossND
CHL1-
-
-
-
3GainND
CHML-
-
-
-
3GainND
CHMP1A-
-
-
-
1LossND
CHMP2B-
-
-
-
3GainND
CHORDC1-
-
-
-
1LossND
CHPF2-
-
-
-
3GainND
CHRD-
-
-
-
3GainND
CHRDL2-
-
-
-
1LossND
CHRM1-
-
-
-
1LossND
CHRM2-
-
-
-
3GainND
CHRM3-
-
-
-
3GainND
CHRNA10-
-
-
-
1LossND
CHRNA6p.S423L
Missense
SNP
0.492
2-ND
CHRNB2-
-
-
-
3GainND
CHST12-
-
-
-
3GainND
CHST13-
-
-
-
3GainND
CHST2-
-
-
-
3GainND
CHST4-
-
-
-
1LossND
CHST5-
-
-
-
1LossND
CHST6-
-
-
-
1LossND
CHSY3-
-
-
-
1LossND
CHTF8-
-
-
-
1LossND
CHTOP-
-
-
-
3GainND
CIAO2B-
-
-
-
1LossND
CIAPIN1-
-
-
-
1LossND
CIART-
-
-
-
3GainND
CIB2p.S59F
Missense
SNP
0.498
2-ND
CIDEC-
-
-
-
3GainND
CILPp.R737C
Missense
SNP
0.445
2-ND
CIP2A-
-
-
-
3GainND
CISD2-
-
-
-
1LossND
CISH-
-
-
-
3GainND
CITED2-
-
-
-
1LossND
CIZ1p.A332V
Missense
DNP
0.456
2-ND
CKLF-
-
-
-
1LossND
CKLF-CMTM1-
-
-
-
1LossND
CKMT1A-
-
-
-
1LossND
CKMT1B-
-
-
-
1LossND
CKS1B-
-
-
-
3GainND
CLASP2-
-
-
-
3GainND
CLCA1-
-
-
-
1LossND
CLCA2-
-
-
-
1LossND
CLCA4-
-
-
-
1LossND
CLCC1-
-
-
-
1LossND
CLCF1-
-
-
-
1LossND
CLCN1-
-
-
-
3GainND
CLCN2-
-
-
-
3GainND
CLCN3p.E599K
Missense
SNP
1.000
1LossND
CLDN1-
-
-
-
3GainND
CLDN10-
-
-
-
1LossND
CLDN11-
-
-
-
3GainND
CLDN16-
-
-
-
3GainND
CLDN18-
-
-
-
3GainND
CLDN20-
-
-
-
1LossND
CLDN22-
-
-
-
1LossND
CLDN24-
-
-
-
1LossND
CLDN25-
-
-
-
1LossND
CLDND1-
-
-
-
3GainND
CLEC18A-
-
-
-
1LossND
CLEC18B-
-
-
-
1LossND
CLEC18C-
-
-
-
1LossND
CLEC2L-
-
-
-
3GainND
CLEC3A-
-
-
-
1LossND
CLEC3B-
-
-
-
3GainND
CLEC5A-
-
-
-
3GainND
CLINT1-
-
-
-
1LossND
CLIP2p.A484V
Missense
SNP
0.436
2-ND
CLK2p.S34F
Missense
DNP
0.590
3GainND
CLK4-
-
-
-
1LossND
CLMP-
-
-
-
1LossND
CLNS1A-
-
-
-
1LossND
CLOCK-
-
-
-
1LossND
CLP1-
-
-
-
1LossND
CLPB-
-
-
-
1LossND
CLRN1-
-
-
-
3GainND
CLSTN2-
-
-
-
3GainND
CLTB-
-
-
-
1LossND
CLVS2-
-
-
-
1LossND
CLYBL-
-
-
-
1LossND
CMC1-
-
-
-
3GainND
CMC2-
-
-
-
1LossND
CMIP-
-
-
-
1LossND
CMSS1-
-
-
-
3GainND
CMTM1-
-
-
-
1LossND
CMTM2-
-
-
-
1LossND
CMTM3-
-
-
-
1LossND
CMTM4-
-
-
-
1LossND
CMTM6-
-
-
-
3GainND
CMTM7-
-
-
-
3GainND
CMTM8-
-
-
-
3GainND
CMTR2-
-
-
-
1LossND
CMYA5p.P3156S
Missense
SNP
0.532
2-ND
CNBP-
-
-
-
3GainND
CNEP1R1-
-
-
-
1LossND
CNGA1p.E666K
Missense
SNP
0.412
2-ND
CNGA4-
-
-
-
1LossND
CNGB1-
-
-
-
1LossND
CNIH2-
-
-
-
1LossND
CNIH3-
-
-
-
3GainND
CNIH4-
-
-
-
3GainND
CNKSR3-
-
-
-
1LossND
CNN3-
-
-
-
1LossND
CNOT1-
-
-
-
1LossND
CNOT10-
-
-
-
3GainND
CNOT4-
-
-
-
3GainND
CNOT6-
-
-
-
1LossND
CNOT6L-
-
-
-
1LossND
CNOT8-
-
-
-
1LossND
CNPY1-
-
-
-
3GainND
CNST-
-
-
-
3GainND
CNTF-
-
-
-
1LossND
CNTLN-
-
-
-
1LossND
CNTN1p.F164C
Missense
SNP
0.449
2-ND
CNTN2-
-
-
-
3GainND
CNTN3-
-
-
-
3GainND
CNTN4-
-
-
-
3GainND
CNTN5p.D92N
Missense
SNP
0.538
2-ND
CNTN6-
-
-
-
3GainND
CNTNAP2p.P38L
Missense
SNP
0.687
5AmpND
CNTNAP4-
-
-
-
1LossND
COA6-
-
-
-
3GainND
COG2-
-
-
-
3GainND
COG4-
-
-
-
1LossND
COG8-
-
-
-
1LossND
COL10A1-
-
-
-
1LossND
COL11A1-
-
-
-
1LossND
COL19A1p.P129S
Missense
SNP
0.435
2-ND
COL1A2p.E1201K
Missense
SNP
0.484
2-ND
COL23A1-
-
-
-
1LossND
COL24A1-
-
-
-
1LossND
COL25A1-
-
-
-
1LossND
COL28A1-
-
-
-
3GainND
COL3A1p.E1300K
Missense
SNP
0.429
2-ND
COL4A1-
-
-
-
1LossND
COL4A2-
-
-
-
1LossND
COL5A1p.G742E
Missense
SNP
0.448
2-ND
COL6A5p.E2589K
Missense
SNP
0.588
3GainND
COL6A6-
-
-
-
3GainND
COL7A1-
-
-
-
3GainND
COL8A1p.G384E
Missense
SNP
0.340
3GainND
COLCA2-
-
-
-
1LossND
COLGALT2-
-
-
-
3GainND
COLQ-
-
-
-
3GainND
COMMD10-
-
-
-
1LossND
COMMD2-
-
-
-
3GainND
COMMD9-
-
-
-
3GainND
COP1-
-
-
-
3GainND
COPA-
-
-
-
3GainND
COPB1-
-
-
-
3GainND
COPB2-
-
-
-
3GainND
COPG1-
-
-
-
3GainND
COPG2-
-
-
-
3GainND
COPS2-
-
-
-
1LossND
COPS4-
-
-
-
1LossND
COQ2-
-
-
-
1LossND
COQ3-
-
-
-
1LossND
COQ8A-
-
-
-
3GainND
COQ9-
-
-
-
1LossND
CORINp.S441F
Missense
SNP
0.546
2-ND
CORO1B-
-
-
-
1LossND
COTL1-
-
-
-
1LossND
COX17-
-
-
-
3GainND
COX18-
-
-
-
1LossND
COX19-
-
-
-
3GainND
COX20-
-
-
-
3GainND
COX4I1-
-
-
-
1LossND
COX8A-
-
-
-
1LossND
CPp.T87I
Missense
DNP
0.609
3GainND
CPA1-
-
-
-
3GainND
CPA2-
-
-
-
3GainND
CPA3-
-
-
-
3GainND
CPA4-
-
-
-
3GainND
CPA5-
-
-
-
3GainND
CPB1-
-
-
-
3GainND
CPE-
-
-
-
1LossND
CPEB4-
-
-
-
1LossND
CPED1-
-
-
-
3GainND
CPLX2-
-
-
-
1LossND
CPLX3p.R69Q
Missense
DNP
0.444
2-ND
CPN2-
-
-
-
3GainND
CPNE2-
-
-
-
1LossND
CPNE4p.R201C
Missense
SNP
0.346
3GainND
CPNE7-
-
-
-
1LossND
CPNE9-
-
-
-
3GainND
CPOX-
-
-
-
3GainND
CPS1p.K234N
Missense
SNP
0.456
2-ND
CPSF7-
-
-
-
1LossND
CPT1A-
-
-
-
1LossND
CR1-
-
-
-
3GainND
CR1L-
-
-
-
3GainND
CR2-
-
-
-
3GainND
CRABP2-
-
-
-
3GainND
CRACR2B-
-
-
-
1LossND
CRB1-
-
-
-
3GainND
CRBN-
-
-
-
3GainND
CRCT1-
-
-
-
3GainND
CREB3L2p.P437L
Missense
SNP
0.256
3GainND
CREB3L4-
-
-
-
3GainND
CREBRF-
-
-
-
1LossND
CREBZF-
-
-
-
1LossND
CREG1-
-
-
-
3GainND
CRELD1-
-
-
-
3GainND
CRISPLD2-
-
-
-
1LossND
CRNN-
-
-
-
3GainND
CRP-
-
-
-
3GainND
CRTAM-
-
-
-
1LossND
CRTAP-
-
-
-
3GainND
CRTC2-
-
-
-
3GainND
CRYAB-
-
-
-
1LossND
CRYBG1-
-
-
-
1LossND
CRYBG3-
-
-
-
3GainND
CRYGN-
-
-
-
3GainND
CRYGS-
-
-
-
3GainND
CRYL1-
-
-
-
1LossND
CRYZ-
-
-
-
1LossND
CSDE1-
-
-
-
1LossND
CSF1-
-
-
-
1LossND
CSF1R-
-
-
-
1LossND
CSF2-
-
-
-
1LossND
CSKMT-
-
-
-
1LossND
CSMD1p.G1511W
Missense
SNP
0.452
2-ND
CSMD2-
-
-
-
4GainND
CSN1S1-
-
-
-
1LossND
CSN2-
-
-
-
1LossND
CSN3-
-
-
-
1LossND
CSNK1A1-
-
-
-
1LossND
CSNK1A1L-
-
-
-
1LossND
CSNK1G3-
-
-
-
1LossND
CSNK2A2-
-
-
-
1LossND
CSPG4p.S308L
Missense
SNP
0.468
2-ND
CSPG5-
-
-
-
3GainND
CSRNP1-
-
-
-
3GainND
CSRP1-
-
-
-
3GainND
CSRP3-
-
-
-
3GainND
CST6-
-
-
-
1LossND
CSTA-
-
-
-
3GainND
CSTF3-
-
-
-
3GainND
CTAGE1p.E58K
Missense
SNP
0.462
2-ND
CTAGE4-
-
-
-
3GainND
CTAGE8-
-
-
-
3GainND
CTAGE9-
-
-
-
1LossND
CTBS-
-
-
-
1LossND
CTCF-
-
-
-
1LossND
CTDSPL-
-
-
-
3GainND
CTDSPL2-
-
-
-
1LossND
CTGF-
-
-
-
1LossND
CTH-
-
-
-
1LossND
CTNNA1-
-
-
-
1LossND
CTNNB1-
-
-
-
3GainND
CTNND1-
-
-
-
1LossND
CTRB1-
-
-
-
1LossND
CTRB2-
-
-
-
1LossND
CTRL-
-
-
-
1LossND
CTSC-
-
-
-
1LossND
CTSD-
-
-
-
1LossND
CTSE-
-
-
-
3GainND
CTSF-
-
-
-
1LossND
CTSK-
-
-
-
3GainND
CTSO-
-
-
-
1LossND
CTSS-
-
-
-
3GainND
CTSW-
-
-
-
1LossND
CTTN-
-
-
-
1LossND
CTTNBP2-
-
-
-
3GainND
CTTNBP2NL-
-
-
-
1LossND
CTU2-
-
-
-
1LossND
CTXN2-
-
-
-
1LossND
CTXN3-
-
-
-
1LossND
CUL1-
-
-
-
3GainND
CUL4A-
-
-
-
1LossND
CUL5-
-
-
-
1LossND
CWC15-
-
-
-
1LossND
CX3CL1-
-
-
-
1LossND
CX3CR1-
-
-
-
3GainND
CXCL1-
-
-
-
1LossND
CXCL10-
-
-
-
1LossND
CXCL11-
-
-
-
1LossND
CXCL13-
-
-
-
1LossND
CXCL14-
-
-
-
1LossND
CXCL2-
-
-
-
1LossND
CXCL3-
-
-
-
1LossND
CXCL5-
-
-
-
1LossND
CXCL6-
-
-
-
1LossND
CXCL8-
-
-
-
1LossND
CXCL9-
-
-
-
1LossND
CXCR5-
-
-
-
1LossND
CXCR6-
-
-
-
3GainND
CXorf67p.S452Y
Missense
SNP
1.000
NDNDND
CXXC4-
-
-
-
1LossND
CXXC5-
-
-
-
1LossND
CYB561A3-
-
-
-
1LossND
CYB561D1-
-
-
-
1LossND
CYB561D2-
-
-
-
3GainND
CYB5B-
-
-
-
1LossND
CYB5R1-
-
-
-
3GainND
CYBA-
-
-
-
1LossND
CYBBp.R226Q
Missense
SNP
1.000
NDNDND
CYFIP1-
-
-
-
1LossND
CYFIP2-
-
-
-
1LossND
CYLD-
-
-
-
1LossND
CYP11A1p.G39S
Missense
SNP
0.529
2-ND
CYP19A1-
-
-
-
1LossND
CYP2R1-
-
-
-
3GainND
CYP2U1-
-
-
-
1LossND
CYP2W1-
-
-
-
3GainND
CYP4V2-
-
-
-
1LossND
CYP7A1p.P292L
Missense
DNP
0.433
2-ND
CYP8B1-
-
-
-
3GainND
CYR61-
-
-
-
1LossND
CYREN-
-
-
-
3GainND
CYSTM1-
-
-
-
1LossND
CYTH3-
-
-
-
3GainND
DACT2-
-
-
-
1LossND
DAG1-
-
-
-
3GainND
DAGLA-
-
-
-
1LossND
DAGLB-
-
-
-
3GainND
DALRD3-
-
-
-
3GainND
DAOA-
-
-
-
1LossND
DAP3-
-
-
-
3GainND
DAPP1-
-
-
-
1LossND
DARS2-
-
-
-
3GainND
DAZL-
-
-
-
3GainND
DBN1-
-
-
-
1LossND
DBNDD1-
-
-
-
1LossND
DBNDD2p.S222F
Missense
SNP
0.547
2-ND
DBR1-
-
-
-
3GainND
DBT-
-
-
-
1LossND
DBX1-
-
-
-
3GainND
DCAF1-
-
-
-
3GainND
DCAF6-
-
-
-
3GainND
DCAF8-
-
-
-
3GainND
DCANP1-
-
-
-
1LossND
DCBLD1-
-
-
-
1LossND
DCBLD2-
-
-
-
3GainND
DCDC1-
-
-
-
3GainND
DCDC2Cp.G171E
Missense
SNP
0.391
2-ND
DCHS1-
-
-
-
1LossND
DCHS2p.P228S
Missense
SNP
1.000
1LossND
DCK-
-
-
-
1LossND
DCLK1-
-
-
-
1LossND
DCLK2-
-
-
-
1LossND
DCLK3-
-
-
-
3GainND
DCLRE1B-
-
-
-
1LossND
DCP1A-
-
-
-
3GainND
DCP2-
-
-
-
1LossND
DCPS-
-
-
-
1LossND
DCST1-
-
-
-
3GainND
DCST2-
-
-
-
3GainND
DCT-
-
-
-
1LossND
DCTD-
-
-
-
1LossND
DCTN4-
-
-
-
1LossND
DCUN1D1-
-
-
-
3GainND
DCUN1D2-
-
-
-
1LossND
DCUN1D4-
-
-
-
1LossND
DDAH1-
-
-
-
1LossND
DDB1-
-
-
-
1LossND
DDIAS-
-
-
-
1LossND
DDIT4L-
-
-
-
1LossND
DDO-
-
-
-
1LossND
DDR2-
-
-
-
3GainND
DDX10-
-
-
-
1LossND
DDX19A-
-
-
-
1LossND
DDX19B-
-
-
-
1LossND
DDX20-
-
-
-
1LossND
DDX25-
-
-
-
1LossND
DDX28-
-
-
-
1LossND
DDX41-
-
-
-
1LossND
DDX46-
-
-
-
1LossND
DDX51-
-
-
-
1LossND
DDX53p.R99S
Missense
SNP
0.992
NDNDND
DDX59-
-
-
-
3GainND
DDX6-
-
-
-
1LossND
DDX60-
-
-
-
1LossND
DDX60L-
-
-
-
1LossND
DEAF1-
-
-
-
1LossND
DEDD-
-
-
-
3GainND
DEF8-
-
-
-
1LossND
DEGS1-
-
-
-
3GainND
DELE1-
-
-
-
1LossND
DENND1B-
-
-
-
3GainND
DENND2A-
-
-
-
3GainND
DENND2Cp.R362G
Missense
SNP
1.000
1LossND
DENND2D-
-
-
-
1LossND
DENND4B-
-
-
-
3GainND
DENND4C-
-
-
-
1LossND
DENND6Ap.L139*
Nonsense
SNP
0.326
3GainND
DEPDC1-
-
-
-
1LossND
DEPDC7-
-
-
-
3GainND
DERAp.L276P
Missense
SNP
0.574
2-ND
DERL3p.G104R
Missense
SNP
0.496
2-ND
DESI2-
-
-
-
3GainND
DEUP1-
-
-
-
1LossND
DGAT2-
-
-
-
1LossND
DGKG-
-
-
-
3GainND
DGKI-
-
-
-
3GainND
DHCR7-
-
-
-
1LossND
DHFR2-
-
-
-
3GainND
DHODH-
-
-
-
1LossND
DHX30-
-
-
-
3GainND
DHX36-
-
-
-
3GainND
DHX38-
-
-
-
1LossND
DHX9-
-
-
-
3GainND
DIAPH1-
-
-
-
1LossND
DIRAS3-
-
-
-
1LossND
DIRC2-
-
-
-
3GainND
DIS3Lp.P230L
Missense
DNP
0.399
2-ND
DISC1-
-
-
-
3GainND
DISP1-
-
-
-
3GainND
DIXDC1-
-
-
-
1LossND
DKK2-
-
-
-
1LossND
DLAT-
-
-
-
1LossND
DLEC1-
-
-
-
3GainND
DLG1p.P685L
Missense
SNP
0.318
3GainND
DLG2-
-
-
-
1LossND
DLGAP2p.E275D
p.D646N
Missense
Missense
SNP
SNP
0.585
0.390
2-ND
DLL1-
-
-
-
1LossND
DMAC1-
-
-
-
1LossND
DMP1-
-
-
-
1LossND
DMRT1-
-
-
-
1LossND
DMRT2-
-
-
-
1LossND
DMRT3-
-
-
-
1LossND
DMRTA1-
-
-
-
1LossND
DMXL1-
-
-
-
1LossND
DMXL2-
-
-
-
1LossND
DNAAF1-
-
-
-
1LossND
DNAAF4-
-
-
-
1LossND
DNAAF5-
-
-
-
3GainND
DNAH1-
-
-
-
3GainND
DNAH12-
-
-
-
3GainND
DNAH14-
-
-
-
3GainND
DNAH17p.R2788C
Missense
SNP
0.492
2-ND
DNAH2p.P2691L
Missense
SNP
0.459
2-ND
DNAH6p.D1419N
Missense
SNP
0.458
2-ND
DNAJA2-
-
-
-
1LossND
DNAJB11-
-
-
-
3GainND
DNAJB14-
-
-
-
1LossND
DNAJB4-
-
-
-
1LossND
DNAJB6-
-
-
-
3GainND
DNAJB8-
-
-
-
3GainND
DNAJB9-
-
-
-
3GainND
DNAJC13-
-
-
-
3GainND
DNAJC18-
-
-
-
1LossND
DNAJC19-
-
-
-
3GainND
DNAJC24-
-
-
-
3GainND
DNAJC3-
-
-
-
1LossND
DNAJC4-
-
-
-
1LossND
DNASE1L3-
-
-
-
3GainND
DNASE2B-
-
-
-
1LossND
DND1-
-
-
-
1LossND
DNHD1-
-
-
-
1LossND
DNM3-
-
-
-
3GainND
DNMT1p.D1632N
Missense
DNP
0.364
2-ND
DNTTIP2-
-
-
-
1LossND
DOCK2-
-
-
-
1LossND
DOCK3-
-
-
-
3GainND
DOCK4-
-
-
-
3GainND
DOCK8-
-
-
-
1LossND
DOCK9-
-
-
-
1LossND
DOK3-
-
-
-
1LossND
DOK4-
-
-
-
1LossND
DPAGT1-
-
-
-
1LossND
DPCR1p.E1045K
Missense
SNP
0.486
NDNDND
DPEP1-
-
-
-
1LossND
DPEP2-
-
-
-
1LossND
DPEP3-
-
-
-
1LossND
DPF2-
-
-
-
1LossND
DPH3-
-
-
-
3GainND
DPH5-
-
-
-
1LossND
DPM3-
-
-
-
3GainND
DPP3-
-
-
-
1LossND
DPP6-
-
-
-
3GainND
DPPA2-
-
-
-
3GainND
DPPA4-
-
-
-
3GainND
DPT-
-
-
-
3GainND
DPYDp.P789S
Missense
SNP
0.978
1LossND
DPYSp.G107D
Missense
SNP
0.514
2-ND
DPYSL3-
-
-
-
1LossND
DR1-
-
-
-
1LossND
DRAM2-
-
-
-
1LossND
DRAP1-
-
-
-
1LossND
DRC7-
-
-
-
1LossND
DRD1-
-
-
-
1LossND
DRD2-
-
-
-
1LossND
DRD3-
-
-
-
3GainND
DRD4-
-
-
-
1LossND
DSCAMp.S1203F
Missense
DNP
0.448
2-ND
DSCAML1-
-
-
-
1LossND
DSE-
-
-
-
1LossND
DSPp.H643N
Missense
SNP
0.513
2-ND
DSPP-
-
-
-
1LossND
DSTYK-
-
-
-
3GainND
DTL-
-
-
-
3GainND
DTWD1-
-
-
-
1LossND
DTWD2-
-
-
-
1LossND
DTX3L-
-
-
-
3GainND
DTX4-
-
-
-
1LossND
DUOX1-
-
-
-
1LossND
DUOX2-
-
-
-
1LossND
DUOXA1-
-
-
-
1LossND
DUOXA2-
-
-
-
1LossND
DUS2-
-
-
-
1LossND
DUSP1-
-
-
-
1LossND
DUSP10-
-
-
-
3GainND
DUSP12-
-
-
-
3GainND
DUSP23-
-
-
-
3GainND
DUSP27-
-
-
-
3GainND
DUSP5p.K13R
Missense
SNP
0.500
2-ND
DUSP7-
-
-
-
3GainND
DUSP8-
-
-
-
1LossND
DUT-
-
-
-
1LossND
DUXB-
-
-
-
1LossND
DVL3-
-
-
-
3GainND
DYNC1LI1-
-
-
-
3GainND
DYNC1LI2-
-
-
-
1LossND
DYNLRB2-
-
-
-
1LossND
DYNLT1-
-
-
-
1LossND
DYRK3p.P557L
Missense
SNP
0.551
3GainND
DZANK1p.X181_splice
Splice_Site
DNP
0.452
2-ND
DZIP1-
-
-
-
1LossND
DZIP1L-
-
-
-
3GainND
DZIP3-
-
-
-
3GainND
E2F4-
-
-
-
1LossND
E2F8-
-
-
-
3GainND
EAF1-
-
-
-
3GainND
EAF2-
-
-
-
3GainND
EBF1-
-
-
-
1LossND
EBLN2-
-
-
-
3GainND
ECE2-
-
-
-
3GainND
ECHDC1-
-
-
-
1LossND
ECM1-
-
-
-
3GainND
ECSCR-
-
-
-
1LossND
ECT2-
-
-
-
3GainND
ECT2L-
-
-
-
1LossND
EDARADD-
-
-
-
3GainND
EDC4-
-
-
-
1LossND
EDEM1-
-
-
-
3GainND
EDEM3-
-
-
-
3GainND
EDNRA-
-
-
-
1LossND
EED-
-
-
-
1LossND
EEF1AKMT1-
-
-
-
1LossND
EEF1AKMT4-
-
-
-
3GainND
EEF1AKMT4-ECE2-
-
-
-
3GainND
EEF1G-
-
-
-
1LossND
EEFSEC-
-
-
-
3GainND
EFCAB12-
-
-
-
3GainND
EFCAB2-
-
-
-
3GainND
EFCAB9-
-
-
-
1LossND
EFCC1-
-
-
-
3GainND
EFEMP2-
-
-
-
1LossND
EFHB-
-
-
-
3GainND
EFNA1-
-
-
-
3GainND
EFNA3-
-
-
-
3GainND
EFNA4-
-
-
-
3GainND
EFNB2-
-
-
-
1LossND
EGF-
-
-
-
1LossND
EGLN1-
-
-
-
3GainND
EGR1-
-
-
-
1LossND
EHBP1L1-
-
-
-
1LossND
EHD1-
-
-
-
1LossND
EHF-
-
-
-
3GainND
EHHADH-
-
-
-
3GainND
EI24-
-
-
-
1LossND
EID1-
-
-
-
1LossND
EIF1AD-
-
-
-
1LossND
EIF1B-
-
-
-
3GainND
EIF2A-
-
-
-
3GainND
EIF2AK1-
-
-
-
3GainND
EIF2B5-
-
-
-
3GainND
EIF2D-
-
-
-
3GainND
EIF3B-
-
-
-
3GainND
EIF3J-
-
-
-
1LossND
EIF3M-
-
-
-
3GainND
EIF4A2-
-
-
-
3GainND
EIF4Bp.R242W
Missense
SNP
0.364
2-ND
EIF4E-
-
-
-
1LossND
EIF4E1B-
-
-
-
1LossND
EIF4E3-
-
-
-
3GainND
EIF4EBP3-
-
-
-
1LossND
EIF4G1-
-
-
-
3GainND
EIF5A2-
-
-
-
3GainND
ELAVL2-
-
-
-
1LossND
ELF1p.D76N
Missense
SNP
0.466
2-ND
ELF2-
-
-
-
1LossND
ELF3-
-
-
-
3GainND
ELF5-
-
-
-
3GainND
ELFN1-
-
-
-
3GainND
ELK4-
-
-
-
3GainND
ELL3-
-
-
-
1LossND
ELMO3-
-
-
-
1LossND
ELOVL3p.G228E
Missense
SNP
0.503
2-ND
ELOVL6-
-
-
-
1LossND
ELOVL7p.N6I
Missense
SNP
0.475
2-ND
ELP4-
-
-
-
3GainND
ELP6-
-
-
-
3GainND
EMC3-
-
-
-
3GainND
EMC8-
-
-
-
1LossND
EMCN-
-
-
-
1LossND
EMILIN2p.V306M
Missense
SNP
0.502
2-ND
EML3-
-
-
-
1LossND
EMSY-
-
-
-
1LossND
EN2-
-
-
-
3GainND
ENAH-
-
-
-
3GainND
ENAM-
-
-
-
1LossND
ENDOD1-
-
-
-
1LossND
ENKD1-
-
-
-
1LossND
ENOPH1-
-
-
-
1LossND
ENPEP-
-
-
-
1LossND
ENPP1-
-
-
-
1LossND
ENPP3-
-
-
-
1LossND
ENPP6-
-
-
-
1LossND
ENSA-
-
-
-
3GainND
ENTPD3-
-
-
-
3GainND
EOGT-
-
-
-
3GainND
EOMES-
-
-
-
3GainND
EP400-
-
-
-
1LossND
EPB41L2-
-
-
-
1LossND
EPB41L4A-
-
-
-
1LossND
EPB41L4Bp.H452Y
Missense
SNP
0.517
2-ND
EPB42-
-
-
-
1LossND
EPGN-
-
-
-
1LossND
EPHA1p.P723L
Missense
SNP
0.700
3GainND
EPHA3-
-
-
-
3GainND
EPHA5-
-
-
-
1LossND
EPHA6-
-
-
-
3GainND
EPHA7-
-
-
-
1LossND
EPHA8p.S409F
Missense
SNP
0.464
2-ND
EPHB1-
-
-
-
3GainND
EPHB3-
-
-
-
3GainND
EPHB6-
-
-
-
3GainND
EPHX1-
-
-
-
3GainND
EPHX4-
-
-
-
1LossND
EPM2A-
-
-
-
1LossND
EPM2AIP1-
-
-
-
3GainND
EPN1p.P419S
Missense
SNP
0.453
2-ND
EPRS-
-
-
-
3GainND
EPS8L2-
-
-
-
1LossND
EPS8L3-
-
-
-
1LossND
ERBB2p.P197L
Missense
SNP
0.431
2-ND
ERBB4p.R1304W
Missense
SNP
0.476
2-ND
ERC2p.G38R
Missense
SNP
0.661
3GainND
ERCC5-
-
-
-
1LossND
EREG-
-
-
-
1LossND
ERGIC1-
-
-
-
1LossND
ERICH3-
-
-
-
1LossND
ERICH6-
-
-
-
3GainND
ERMARD-
-
-
-
1LossND
ERMP1-
-
-
-
1LossND
ERO1B-
-
-
-
3GainND
ERVMER34-1-
-
-
-
1LossND
ERVV-1p.P201S
Missense
SNP
0.489
2-ND
ESAM-
-
-
-
1LossND
ESR1-
-
-
-
1LossND
ESRP2-
-
-
-
1LossND
ESRRA-
-
-
-
1LossND
ESRRBp.S202F
Missense
SNP
0.522
2-ND
ESRRG-
-
-
-
3GainND
ESYT2-
-
-
-
3GainND
ESYT3-
-
-
-
3GainND
ETAA1p.G574A
Missense
SNP
0.595
2-ND
ETF1-
-
-
-
1LossND
ETFDH-
-
-
-
1LossND
ETNK2-
-
-
-
3GainND
ETNPPLp.G484R
Missense
SNP
1.000
1LossND
ETS1-
-
-
-
1LossND
ETV3-
-
-
-
3GainND
ETV3L-
-
-
-
3GainND
ETV5-
-
-
-
3GainND
EVI5-
-
-
-
1LossND
EXO1-
-
-
-
3GainND
EXOC1-
-
-
-
1LossND
EXOC1L-
-
-
-
1LossND
EXOC3L1-
-
-
-
1LossND
EXOC4-
-
-
-
3GainND
EXOC8-
-
-
-
3GainND
EXOG-
-
-
-
3GainND
EXOSC6-
-
-
-
1LossND
EXOSC7-
-
-
-
3GainND
EXOSC8-
-
-
-
1LossND
EXOSC9-
-
-
-
1LossND
EXPH5-
-
-
-
1LossND
EXTL2-
-
-
-
1LossND
EYA4-
-
-
-
1LossND
EZH2-
-
-
-
3GainND
EZR-
-
-
-
1LossND
F10-
-
-
-
1LossND
F11-
-
-
-
1LossND
F11R-
-
-
-
3GainND
F12-
-
-
-
1LossND
F13B-
-
-
-
3GainND
F3-
-
-
-
1LossND
F5-
-
-
-
3GainND
F7-
-
-
-
1LossND
F8p.P1111S
Missense
SNP
1.000
NDNDND
FA2H-
-
-
-
1LossND
FABP2-
-
-
-
1LossND
FABP6-
-
-
-
1LossND
FABP7-
-
-
-
1LossND
FADD-
-
-
-
1LossND
FADS1-
-
-
-
1LossND
FADS2-
-
-
-
1LossND
FADS3-
-
-
-
1LossND
FAF2-
-
-
-
1LossND
FAIM-
-
-
-
3GainND
FAM102B-
-
-
-
1LossND
FAM107A-
-
-
-
3GainND
FAM111A-
-
-
-
1LossND
FAM111B-
-
-
-
1LossND
FAM114A2-
-
-
-
1LossND
FAM117Ap.R419Q
p.P258S
Missense
Missense
DNP
SNP
0.479
0.492
2-ND
FAM118B-
-
-
-
1LossND
FAM120B-
-
-
-
1LossND
FAM129A-
-
-
-
3GainND
FAM131Ap.Q126*
Nonsense
SNP
0.637
3GainND
FAM131B-
-
-
-
3GainND
FAM13A-
-
-
-
1LossND
FAM13B-
-
-
-
1LossND
FAM149A-
-
-
-
1LossND
FAM153A-
-
-
-
1LossND
FAM153B-
-
-
-
1LossND
FAM153C-
-
-
-
1LossND
FAM155A-
-
-
-
1LossND
FAM160A1-
-
-
-
1LossND
FAM160A2-
-
-
-
1LossND
FAM162A-
-
-
-
3GainND
FAM162B-
-
-
-
1LossND
FAM163A-
-
-
-
3GainND
FAM170A-
-
-
-
1LossND
FAM171A1p.P703S
Missense
SNP
0.494
2-ND
FAM177B-
-
-
-
3GainND
FAM180A-
-
-
-
3GainND
FAM181B-
-
-
-
1LossND
FAM184A-
-
-
-
1LossND
FAM189B-
-
-
-
3GainND
FAM192A-
-
-
-
1LossND
FAM193Ap.P806L
Missense
DNP
0.470
2-ND
FAM193B-
-
-
-
1LossND
FAM198Ap.G555R
Missense
SNP
0.320
3GainND
FAM198B-
-
-
-
1LossND
FAM19A1-
-
-
-
3GainND
FAM19A2-
-
-
-
3GainND
FAM19A3-
-
-
-
1LossND
FAM19A4-
-
-
-
3GainND
FAM208A-
-
-
-
3GainND
FAM20B-
-
-
-
3GainND
FAM20C-
-
-
-
3GainND
FAM214A-
-
-
-
1LossND
FAM218A-
-
-
-
1LossND
FAM220A-
-
-
-
3GainND
FAM227B-
-
-
-
1LossND
FAM229B-
-
-
-
1LossND
FAM240A-
-
-
-
3GainND
FAM241A-
-
-
-
1LossND
FAM3C-
-
-
-
3GainND
FAM3D-
-
-
-
3GainND
FAM43A-
-
-
-
3GainND
FAM47E-
-
-
-
1LossND
FAM47E-STBD1-
-
-
-
1LossND
FAM53C-
-
-
-
1LossND
FAM65Bp.K107N
Missense
SNP
0.461
NDNDND
FAM69A-
-
-
-
1LossND
FAM71A-
-
-
-
3GainND
FAM71B-
-
-
-
1LossND
FAM71F1-
-
-
-
3GainND
FAM71F2-
-
-
-
3GainND
FAM76B-
-
-
-
1LossND
FAM78B-
-
-
-
3GainND
FAM86C1-
-
-
-
1LossND
FAM89A-
-
-
-
3GainND
FAM89B-
-
-
-
1LossND
FAM92B-
-
-
-
1LossND
FANCA-
-
-
-
1LossND
FANCD2-
-
-
-
3GainND
FANCD2OS-
-
-
-
3GainND
FANCF-
-
-
-
3GainND
FAR1-
-
-
-
3GainND
FARP1-
-
-
-
1LossND
FASLG-
-
-
-
3GainND
FASTK-
-
-
-
3GainND
FASTKD3p.E662K
Missense
SNP
0.461
2-ND
FAT1-
-
-
-
1LossND
FAT2-
-
-
-
1LossND
FAT3-
-
-
-
1LossND
FAT4-
-
-
-
1LossND
FAU-
-
-
-
1LossND
FAXC-
-
-
-
1LossND
FAXDC2-
-
-
-
1LossND
FBLL1-
-
-
-
1LossND
FBLN2-
-
-
-
3GainND
FBN1-
-
-
-
1LossND
FBN2-
-
-
-
1LossND
FBRSL1-
-
-
-
1LossND
FBXL18-
-
-
-
3GainND
FBXL2-
-
-
-
3GainND
FBXL4-
-
-
-
1LossND
FBXL8-
-
-
-
1LossND
FBXO15p.W411*
Nonsense
SNP
0.433
2-ND
FBXO27p.E32A
Missense
SNP
0.423
2-ND
FBXO28-
-
-
-
3GainND
FBXO3-
-
-
-
3GainND
FBXO30-
-
-
-
1LossND
FBXO31-
-
-
-
1LossND
FBXO38-
-
-
-
1LossND
FBXO40-
-
-
-
3GainND
FBXO45-
-
-
-
3GainND
FBXO5-
-
-
-
1LossND
FBXO8-
-
-
-
1LossND
FBXW11-
-
-
-
1LossND
FBXW12-
-
-
-
3GainND
FBXW7-
-
-
-
1LossND
FBXW9p.G191S
Missense
SNP
0.453
2-ND
FCAMR-
-
-
-
3GainND
FCER1A-
-
-
-
3GainND
FCER1G-
-
-
-
3GainND
FCGBPp.A407T
Missense
SNP
0.507
2-ND
FCGR1A-
-
-
-
3GainND
FCGR2A-
-
-
-
3GainND
FCGR2B-
-
-
-
3GainND
FCGR2C-
-
-
-
3GainND
FCGR3A-
-
-
-
3GainND
FCGR3B-
-
-
-
3GainND
FCHSD1-
-
-
-
1LossND
FCMR-
-
-
-
3GainND
FCRL1-
-
-
-
3GainND
FCRL2-
-
-
-
3GainND
FCRL3-
-
-
-
3GainND
FCRL4-
-
-
-
3GainND
FCRL5-
-
-
-
3GainND
FCRL6-
-
-
-
3GainND
FCRLA-
-
-
-
3GainND
FCRLB-
-
-
-
3GainND
FDCSP-
-
-
-
1LossND
FDPS-
-
-
-
3GainND
FDX1-
-
-
-
1LossND
FDXACB1-
-
-
-
1LossND
FEM1C-
-
-
-
1LossND
FEN1-
-
-
-
1LossND
FERMT1p.D233N
Missense
SNP
0.483
2-ND
FERMT3-
-
-
-
1LossND
FETUB-
-
-
-
3GainND
FEZ1-
-
-
-
1LossND
FEZ2p.X89_splice
Splice_Site
SNP
0.443
2-ND
FEZF1-
-
-
-
3GainND
FEZF2-
-
-
-
3GainND
FGA-
-
-
-
1LossND
FGB-
-
-
-
1LossND
FGD5-
-
-
-
3GainND
FGF1-
-
-
-
1LossND
FGF12-
-
-
-
3GainND
FGF14-
-
-
-
1LossND
FGF18-
-
-
-
1LossND
FGF19-
-
-
-
1LossND
FGF2-
-
-
-
1LossND
FGF3-
-
-
-
1LossND
FGF4-
-
-
-
1LossND
FGF5-
-
-
-
1LossND
FGF7-
-
-
-
1LossND
FGF9-
-
-
-
1LossND
FGFR1OP-
-
-
-
1LossND
FGFR4-
-
-
-
1LossND
FGG-
-
-
-
1LossND
FGL1p.E19K
Missense
SNP
0.439
2-ND
FH-
-
-
-
3GainND
FHDC1-
-
-
-
1LossND
FHIT-
-
-
-
3GainND
FHL5-
-
-
-
1LossND
FHOD1-
-
-
-
1LossND
FIBIN-
-
-
-
3GainND
FIBP-
-
-
-
1LossND
FIG4-
-
-
-
1LossND
FILIP1L-
-
-
-
3GainND
FIP1L1-
-
-
-
1LossND
FJX1-
-
-
-
3GainND
FKBP2-
-
-
-
1LossND
FKRPp.P442S
Missense
SNP
0.514
2-ND
FLAD1-
-
-
-
3GainND
FLG-
-
-
-
3GainND
FLG2p.G1869E
Missense
SNP
0.655
3GainND
FLI1-
-
-
-
1LossND
FLNB-
-
-
-
3GainND
FLNC-
-
-
-
3GainND
FLRT1-
-
-
-
1LossND
FLT1-
-
-
-
1LossND
FLT3-
-
-
-
1LossND
FLT4-
-
-
-
1LossND
FLVCR1-
-
-
-
3GainND
FMC1-
-
-
-
3GainND
FMN1p.D67E
Missense
SNP
0.498
2-ND
FMN2-
-
-
-
3GainND
FMO1-
-
-
-
3GainND
FMO2-
-
-
-
3GainND
FMO3-
-
-
-
3GainND
FMO4-
-
-
-
3GainND
FMO5-
-
-
-
3GainND
FMOD-
-
-
-
3GainND
FNBP1L-
-
-
-
1LossND
FNDC1-
-
-
-
1LossND
FNDC3B-
-
-
-
3GainND
FNDC5-
-
-
-
4GainND
FNDC7-
-
-
-
1LossND
FNDC9-
-
-
-
1LossND
FNIP1-
-
-
-
1LossND
FNIP2-
-
-
-
1LossND
FOCAD-
-
-
-
1LossND
FOLR1-
-
-
-
1LossND
FOLR2-
-
-
-
1LossND
FOLR3-
-
-
-
1LossND
FOSL1-
-
-
-
1LossND
FOXA1p.G281T
Missense
DNP
0.528
2-ND
FOXA3p.G198E
Missense
SNP
0.406
2-ND
FOXC2-
-
-
-
1LossND
FOXF1-
-
-
-
1LossND
FOXI1-
-
-
-
1LossND
FOXK1-
-
-
-
3GainND
FOXL1p.P275L
Missense
DNP
1.000
1LossND
FOXL2-
-
-
-
3GainND
FOXL2NB-
-
-
-
3GainND
FOXN1p.G477E
Missense
SNP
0.567
2-ND
FOXO3-
-
-
-
1LossND
FOXP1-
-
-
-
3GainND
FOXP2-
-
-
-
3GainND
FOXR1-
-
-
-
1LossND
FOXRED1-
-
-
-
1LossND
FOXRED2p.L259F
Missense
DNP
0.431
2-ND
FPGT-
-
-
-
1LossND
FPGT-TNNI3K-
-
-
-
1LossND
FPR3p.E11K
Missense
SNP
0.473
2-ND
FRAS1-
-
-
-
1LossND
FREM1-
-
-
-
1LossND
FRG1-
-
-
-
1LossND
FRG2-
-
-
-
1LossND
FRG2C-
-
-
-
3GainND
FRK-
-
-
-
1LossND
FRMD1-
-
-
-
1LossND
FRMD4B-
-
-
-
3GainND
FRMD5-
-
-
-
1LossND
FRMD8-
-
-
-
1LossND
FRRS1-
-
-
-
1LossND
FRY-
-
-
-
1LossND
FSCN1-
-
-
-
3GainND
FSCN3-
-
-
-
3GainND
FSD2p.E445K
Missense
SNP
0.513
2-ND
FSHB-
-
-
-
3GainND
FSIP2p.E2217K
Missense
SNP
0.518
2-ND
FSTL1p.S103F
Missense
SNP
0.609
3GainND
FSTL4-
-
-
-
1LossND
FSTL5-
-
-
-
1LossND
FTH1-
-
-
-
1LossND
FTMT-
-
-
-
1LossND
FTO-
-
-
-
1LossND
FUBP1-
-
-
-
1LossND
FUCA2-
-
-
-
1LossND
FUK-
-
-
-
1LossND
FUT4-
-
-
-
1LossND
FUT9-
-
-
-
1LossND
FXR1p.E33K
Missense
SNP
0.711
3GainND
FXYD2-
-
-
-
1LossND
FXYD6-
-
-
-
1LossND
FXYD6-FXYD2-
-
-
-
1LossND
FYCO1-
-
-
-
3GainND
FYN-
-
-
-
1LossND
FYTTD1-
-
-
-
3GainND
FZD4-
-
-
-
1LossND
G0S2-
-
-
-
3GainND
G3BP1-
-
-
-
1LossND
G3BP2-
-
-
-
1LossND
GAB2-
-
-
-
1LossND
GABARAPL2-
-
-
-
1LossND
GABPB1-
-
-
-
1LossND
GABPB2-
-
-
-
3GainND
GABRA1-
-
-
-
1LossND
GABRA3p.D244N
p.X111_splice
Missense
Splice_Site
SNP
SNP
0.990
0.981
NDNDND
GABRA5-
-
-
-
1LossND
GABRA6-
-
-
-
1LossND
GABRB2-
-
-
-
1LossND
GABRB3p.R414Q
Missense
SNP
0.885
1LossND
GABRG1p.G425E
Missense
SNP
0.482
2-ND
GABRG2-
-
-
-
1LossND
GABRG3-
-
-
-
1LossND
GABRP-
-
-
-
1LossND
GABRR3-
-
-
-
3GainND
GADD45A-
-
-
-
1LossND
GADL1-
-
-
-
3GainND
GAL-
-
-
-
1LossND
GAL3ST3-
-
-
-
1LossND
GALK2-
-
-
-
1LossND
GALMp.G328D
Missense
SNP
0.522
2-ND
GALNS-
-
-
-
1LossND
GALNT10-
-
-
-
1LossND
GALNT11-
-
-
-
3GainND
GALNT15-
-
-
-
3GainND
GALNT2-
-
-
-
3GainND
GALNT5p.E698K
Missense
SNP
0.679
2-ND
GALNT7-
-
-
-
1LossND
GALNT9-
-
-
-
1LossND
GALNTL5-
-
-
-
3GainND
GALNTL6-
-
-
-
1LossND
GAN-
-
-
-
1LossND
GANAB-
-
-
-
1LossND
GANC-
-
-
-
1LossND
GAP43-
-
-
-
3GainND
GAPVD1-
-
-
-
3GainND
GAR1-
-
-
-
1LossND
GAS2-
-
-
-
3GainND
GAS6-
-
-
-
1LossND
GAS8-
-
-
-
1LossND
GATA2-
-
-
-
3GainND
GATAD2B-
-
-
-
3GainND
GATB-
-
-
-
1LossND
GATD1-
-
-
-
1LossND
GATM-
-
-
-
1LossND
GBA-
-
-
-
3GainND
GBE1-
-
-
-
3GainND
GBP1-
-
-
-
1LossND
GBP2-
-
-
-
1LossND
GBP3-
-
-
-
1LossND
GBP4-
-
-
-
1LossND
GBP5-
-
-
-
1LossND
GBP6-
-
-
-
1LossND
GBP7-
-
-
-
1LossND
GBX1-
-
-
-
3GainND
GC-
-
-
-
1LossND
GCC1-
-
-
-
3GainND
GCLM-
-
-
-
1LossND
GCOM1-
-
-
-
1LossND
GCSAM-
-
-
-
3GainND
GCSAML-
-
-
-
3GainND
GCSAML-AS1-
-
-
-
3GainND
GCSH-
-
-
-
1LossND
GDAP1L1-
-
-
-
1LossND
GDAP2-
-
-
-
1LossND
GDF9-
-
-
-
1LossND
GDPD4-
-
-
-
1LossND
GDPD5-
-
-
-
1LossND
GEMIN5-
-
-
-
1LossND
GET4-
-
-
-
3GainND
GFI1-
-
-
-
1LossND
GFM1-
-
-
-
3GainND
GFOD2-
-
-
-
1LossND
GFPT2-
-
-
-
1LossND
GFRA3-
-
-
-
1LossND
GGA1-
-
-
-
3GainND
GGACT-
-
-
-
1LossND
GGPS1-
-
-
-
3GainND
GHRL-
-
-
-
3GainND
GHSR-
-
-
-
3GainND
GIF-
-
-
-
1LossND
GIMAP1-
-
-
-
3GainND
GIMAP1-GIMAP5-
-
-
-
3GainND
GIMAP2-
-
-
-
3GainND
GIMAP4-
-
-
-
3GainND
GIMAP5-
-
-
-
3GainND
GIMAP6-
-
-
-
3GainND
GIMAP7-
-
-
-
3GainND
GIMAP8-
-
-
-
3GainND
GIMD1-
-
-
-
1LossND
GINM1-
-
-
-
1LossND
GINS2-
-
-
-
1LossND
GINS3-
-
-
-
1LossND
GIPC2p.R312Q
Missense
SNP
1.000
1LossND
GJA1-
-
-
-
1LossND
GJA3-
-
-
-
1LossND
GJA5-
-
-
-
3GainND
GJA8-
-
-
-
3GainND
GJB2-
-
-
-
1LossND
GJB6-
-
-
-
1LossND
GJC2-
-
-
-
3GainND
GJE1-
-
-
-
1LossND
GK2-
-
-
-
1LossND
GK3P-
-
-
-
1LossND
GK5-
-
-
-
3GainND
GLB1-
-
-
-
3GainND
GLB1L2-
-
-
-
1LossND
GLB1L3-
-
-
-
1LossND
GLCCI1-
-
-
-
3GainND
GLDC-
-
-
-
1LossND
GLDN-
-
-
-
1LossND
GLG1-
-
-
-
1LossND
GLIS3-
-
-
-
1LossND
GLMN-
-
-
-
1LossND
GLMP-
-
-
-
3GainND
GLRA1-
-
-
-
1LossND
GLRA3-
-
-
-
1LossND
GLRB-
-
-
-
1LossND
GLRX2-
-
-
-
3GainND
GLT8D1-
-
-
-
3GainND
GLUL-
-
-
-
3GainND
GLYAT-
-
-
-
1LossND
GLYATL1-
-
-
-
1LossND
GLYATL1B-
-
-
-
1LossND
GLYATL2-
-
-
-
1LossND
GLYCTK-
-
-
-
3GainND
GM2A-
-
-
-
1LossND
GMCL2-
-
-
-
1LossND
GMIPp.A951T
Missense
DNP
0.492
2-ND
GMNC-
-
-
-
3GainND
GMPPB-
-
-
-
3GainND
GMPS-
-
-
-
3GainND
GNA12-
-
-
-
3GainND
GNAI2-
-
-
-
3GainND
GNAI3-
-
-
-
1LossND
GNAO1-
-
-
-
1LossND
GNAT1-
-
-
-
3GainND
GNAT2-
-
-
-
1LossND
GNB4-
-
-
-
3GainND
GNB5-
-
-
-
1LossND
GNG12-
-
-
-
1LossND
GNG3-
-
-
-
1LossND
GNG4-
-
-
-
3GainND
GNG5-
-
-
-
1LossND
GNL3-
-
-
-
3GainND
GNPAT-
-
-
-
3GainND
GNPDA1-
-
-
-
1LossND
GNRHR-
-
-
-
1LossND
GOLGA3-
-
-
-
1LossND
GOLGA4-
-
-
-
3GainND
GOLGA6L2-
-
-
-
1LossND
GOLGA8S-
-
-
-
1LossND
GOLGB1-
-
-
-
3GainND
GOLIM4-
-
-
-
3GainND
GOLPH3L-
-
-
-
3GainND
GOLT1A-
-
-
-
3GainND
GON4L-
-
-
-
3GainND
GOPC-
-
-
-
1LossND
GORAB-
-
-
-
3GainND
GORASP1-
-
-
-
3GainND
GOT2-
-
-
-
1LossND
GP5-
-
-
-
3GainND
GP9-
-
-
-
3GainND
GPA33-
-
-
-
3GainND
GPAT3-
-
-
-
1LossND
GPATCH2-
-
-
-
3GainND
GPATCH3p.P213S
Missense
DNP
0.442
2-ND
GPATCH4-
-
-
-
3GainND
GPC5-
-
-
-
1LossND
GPC6-
-
-
-
1LossND
GPD1L-
-
-
-
3GainND
GPER1-
-
-
-
3GainND
GPHA2-
-
-
-
1LossND
GPM6A-
-
-
-
1LossND
GPR107p.P375L
Missense
DNP
0.403
2-ND
GPR12-
-
-
-
1LossND
GPR137-
-
-
-
1LossND
GPR137B-
-
-
-
3GainND
GPR146-
-
-
-
3GainND
GPR149-
-
-
-
3GainND
GPR15-
-
-
-
3GainND
GPR151-
-
-
-
1LossND
GPR152-
-
-
-
1LossND
GPR156-
-
-
-
3GainND
GPR160-
-
-
-
3GainND
GPR161-
-
-
-
3GainND
GPR171-
-
-
-
3GainND
GPR179p.G1640K
Missense
DNP
0.456
2-ND
GPR18-
-
-
-
1LossND
GPR180-
-
-
-
1LossND
GPR183-
-
-
-
1LossND
GPR25-
-
-
-
3GainND
GPR27-
-
-
-
3GainND
GPR31-
-
-
-
1LossND
GPR37-
-
-
-
3GainND
GPR37L1-
-
-
-
3GainND
GPR52-
-
-
-
3GainND
GPR6-
-
-
-
1LossND
GPR61-
-
-
-
1LossND
GPR62-
-
-
-
3GainND
GPR63-
-
-
-
1LossND
GPR83-
-
-
-
1LossND
GPR85-
-
-
-
3GainND
GPR87-
-
-
-
3GainND
GPR88-
-
-
-
1LossND
GPR89A-
-
-
-
3GainND
GPR89B-
-
-
-
3GainND
GPRC6A-
-
-
-
1LossND
GPRIN1-
-
-
-
1LossND
GPRIN3-
-
-
-
1LossND
GPSM2-
-
-
-
1LossND
GPT2-
-
-
-
1LossND
GPX1-
-
-
-
3GainND
GPX3-
-
-
-
1LossND
GRAMD1Bp.W516*
Nonsense
SNP
1.000
1LossND
GRAMD1C-
-
-
-
3GainND
GRAMD2B-
-
-
-
1LossND
GRB10p.S499F
Missense
SNP
0.502
2-ND
GREB1Lp.G1328D
Missense
SNP
0.405
2-ND
GREM2-
-
-
-
3GainND
GRIA1-
-
-
-
1LossND
GRIA2-
-
-
-
1LossND
GRIA4-
-
-
-
1LossND
GRID2-
-
-
-
1LossND
GRID2IP-
-
-
-
3GainND
GRIFIN-
-
-
-
3GainND
GRIK1p.G771E
Missense
SNP
0.449
2-ND
GRIK2-
-
-
-
1LossND
GRIK4-
-
-
-
1LossND
GRIN3Ap.G603E
Missense
SNP
0.430
2-ND
GRIP2-
-
-
-
3GainND
GRK1-
-
-
-
1LossND
GRK2-
-
-
-
1LossND
GRK6-
-
-
-
1LossND
GRK7-
-
-
-
3GainND
GRM1-
-
-
-
1LossND
GRM2-
-
-
-
3GainND
GRM3p.G18E
Missense
SNP
0.582
2-ND
GRM5-
-
-
-
1LossND
GRM6-
-
-
-
1LossND
GRM7p.D578N
Missense
SNP
0.282
3GainND
GRM8-
-
-
-
3GainND
GRNp.P578S
Missense
SNP
0.440
2-ND
GRPEL2-
-
-
-
1LossND
GRSF1-
-
-
-
1LossND
GRTP1-
-
-
-
1LossND
GRXCR2-
-
-
-
1LossND
GSE1-
-
-
-
1LossND
GSK3B-
-
-
-
3GainND
GSTCD-
-
-
-
1LossND
GSTK1-
-
-
-
3GainND
GSTM2-
-
-
-
1LossND
GSTM3-
-
-
-
1LossND
GSTM4-
-
-
-
1LossND
GSTM5-
-
-
-
1LossND
GSTP1-
-
-
-
1LossND
GSX1-
-
-
-
1LossND
GSX2-
-
-
-
1LossND
GTF2B-
-
-
-
1LossND
GTF2E1-
-
-
-
3GainND
GTF2H1-
-
-
-
3GainND
GTF2H5-
-
-
-
1LossND
GTF3A-
-
-
-
1LossND
GTF3C6-
-
-
-
1LossND
GTPBP8-
-
-
-
3GainND
GTSF1p.R56H
Missense
SNP
0.520
2-ND
GUCA1C-
-
-
-
3GainND
GUCY1A1-
-
-
-
1LossND
GUCY1B1-
-
-
-
1LossND
GUK1-
-
-
-
3GainND
GUSBp.S81Y
Missense
DNP
0.492
2-ND
GVQW2-
-
-
-
1LossND
GVQW3-
-
-
-
1LossND
GXYLT2-
-
-
-
3GainND
GYG1-
-
-
-
3GainND
GYPA-
-
-
-
1LossND
GYPB-
-
-
-
1LossND
H1FOO-
-
-
-
3GainND
H1FX-
-
-
-
3GainND
H2AFX-
-
-
-
1LossND
H2AFY-
-
-
-
1LossND
H2AFZ-
-
-
-
1LossND
H3F3A-
-
-
-
3GainND
HACD2-
-
-
-
3GainND
HACD4-
-
-
-
1LossND
HACE1-
-
-
-
1LossND
HACL1-
-
-
-
3GainND
HADH-
-
-
-
1LossND
HAND1-
-
-
-
1LossND
HAND2-
-
-
-
1LossND
HAO2-
-
-
-
1LossND
HAPLN2-
-
-
-
3GainND
HARS-
-
-
-
1LossND
HARS2-
-
-
-
1LossND
HAS3-
-
-
-
1LossND
HAUS2-
-
-
-
1LossND
HAUS6-
-
-
-
1LossND
HAVCR1-
-
-
-
1LossND
HAVCR2-
-
-
-
1LossND
HAX1-
-
-
-
3GainND
HBB-
-
-
-
1LossND
HBD-
-
-
-
1LossND
HBE1-
-
-
-
1LossND
HBEGF-
-
-
-
1LossND
HBG1-
-
-
-
1LossND
HBG2-
-
-
-
1LossND
HBS1L-
-
-
-
1LossND
HCLS1-
-
-
-
3GainND
HCN3-
-
-
-
3GainND
HDAC11-
-
-
-
3GainND
HDAC2-
-
-
-
1LossND
HDAC3-
-
-
-
1LossND
HDC-
-
-
-
1LossND
HDDC2-
-
-
-
1LossND
HDGF-
-
-
-
3GainND
HEATR1-
-
-
-
3GainND
HEATR3-
-
-
-
1LossND
HEATR6p.P624S
Missense
SNP
0.517
2-ND
HEBP2-
-
-
-
1LossND
HECA-
-
-
-
1LossND
HEG1-
-
-
-
3GainND
HELQ-
-
-
-
1LossND
HELT-
-
-
-
1LossND
HEMK1-
-
-
-
3GainND
HENMT1-
-
-
-
1LossND
HEPACAM-
-
-
-
1LossND
HEPHL1-
-
-
-
1LossND
HEPN1-
-
-
-
1LossND
HERC3-
-
-
-
1LossND
HERC5p.L236F
Missense
SNP
1.000
1LossND
HERC6-
-
-
-
1LossND
HERPUD1-
-
-
-
1LossND
HERPUD2p.P321S
Missense
SNP
0.567
2-ND
HES1-
-
-
-
3GainND
HESX1-
-
-
-
3GainND
HEXIM2p.A3V
Missense
SNP
0.418
2-ND
HEY2-
-
-
-
1LossND
HFM1p.E1250K
Missense
SNP
1.000
1LossND
HGD-
-
-
-
3GainND
HHAT-
-
-
-
3GainND
HHATL-
-
-
-
3GainND
HHIP-
-
-
-
1LossND
HHIPL2-
-
-
-
3GainND
HHLA2-
-
-
-
3GainND
HHLA3-
-
-
-
1LossND
HIBCHp.G181D
Missense
SNP
0.398
2-ND
HIGD1A-
-
-
-
3GainND
HIGD2A-
-
-
-
1LossND
HIKESHI-
-
-
-
1LossND
HILPDA-
-
-
-
3GainND
HINFP-
-
-
-
1LossND
HINT1-
-
-
-
1LossND
HINT3-
-
-
-
1LossND
HIPK1-
-
-
-
1LossND
HIPK2-
-
-
-
3GainND
HIPK3-
-
-
-
3GainND
HIST2H2AA3-
-
-
-
3GainND
HIST2H2AA4-
-
-
-
3GainND
HIST2H2AB-
-
-
-
3GainND
HIST2H2AC-
-
-
-
3GainND
HIST2H2BE-
-
-
-
3GainND
HIST2H2BF-
-
-
-
3GainND
HIST2H3A-
-
-
-
3GainND
HIST2H3C-
-
-
-
3GainND
HIST2H3D-
-
-
-
3GainND
HIST2H3PS2-
-
-
-
3GainND
HIST2H4A-
-
-
-
3GainND
HIST2H4B-
-
-
-
3GainND
HIST3H2A-
-
-
-
3GainND
HIST3H2BB-
-
-
-
3GainND
HIST3H3-
-
-
-
3GainND
HIVEP2-
-
-
-
1LossND
HJV-
-
-
-
3GainND
HK3-
-
-
-
1LossND
HLTF-
-
-
-
3GainND
HLX-
-
-
-
3GainND
HMBS-
-
-
-
1LossND
HMCES-
-
-
-
3GainND
HMCN1-
-
-
-
3GainND
HMGB1-
-
-
-
1LossND
HMGB2-
-
-
-
1LossND
HMGXB3-
-
-
-
1LossND
HMHB1-
-
-
-
1LossND
HMMR-
-
-
-
1LossND
HNRNPA0-
-
-
-
1LossND
HNRNPA2B1p.E192K
Missense
SNP
0.474
2-ND
HNRNPAB-
-
-
-
1LossND
HNRNPD-
-
-
-
1LossND
HNRNPDL-
-
-
-
1LossND
HNRNPH1-
-
-
-
1LossND
HNRNPU-
-
-
-
3GainND
HNRNPUL2-
-
-
-
1LossND
HNRNPUL2-BSCL2-
-
-
-
1LossND
HOPX-
-
-
-
1LossND
HORMAD1-
-
-
-
3GainND
HPp.D246N
Missense
SNP
1.000
1LossND
HPCA-
-
-
-
4GainND
HPF1-
-
-
-
1LossND
HPGD-
-
-
-
1LossND
HPGDS-
-
-
-
1LossND
HPR-
-
-
-
1LossND
HPS3-
-
-
-
3GainND
HPS5-
-
-
-
3GainND
HPSE-
-
-
-
1LossND
HPX-
-
-
-
1LossND
HRAS-
-
-
-
1LossND
HRASLS-
-
-
-
3GainND
HRASLS2-
-
-
-
1LossND
HRASLS5-
-
-
-
1LossND
HRG-
-
-
-
3GainND
HRH1-
-
-
-
3GainND
HRH2-
-
-
-
1LossND
HRNR-
-
-
-
3GainND
HS2ST1-
-
-
-
1LossND
HS3ST5-
-
-
-
1LossND
HS6ST3-
-
-
-
1LossND
HSBP1-
-
-
-
1LossND
HSD11B1-
-
-
-
3GainND
HSD11B2-
-
-
-
1LossND
HSD17B11-
-
-
-
1LossND
HSD17B13-
-
-
-
1LossND
HSD17B2-
-
-
-
1LossND
HSD17B4-
-
-
-
1LossND
HSD17B7-
-
-
-
3GainND
HSD3B2-
-
-
-
1LossND
HSDL1-
-
-
-
1LossND
HSF2-
-
-
-
1LossND
HSF4-
-
-
-
1LossND
HSPA12Ap.T623M
Missense
SNP
0.541
2-ND
HSPA4-
-
-
-
1LossND
HSPA4L-
-
-
-
1LossND
HSPA6-
-
-
-
3GainND
HSPA8-
-
-
-
1LossND
HSPA9-
-
-
-
1LossND
HSPB2-
-
-
-
1LossND
HSPB2-C11orf52-
-
-
-
1LossND
HSPBAP1-
-
-
-
3GainND
HSPH1-
-
-
-
1LossND
HTATIP2-
-
-
-
3GainND
HTD2-
-
-
-
3GainND
HTN1-
-
-
-
1LossND
HTN3-
-
-
-
1LossND
HTR1Ap.E340K
Missense
SNP
0.498
2-ND
HTR1F-
-
-
-
3GainND
HTR3A-
-
-
-
1LossND
HTR3B-
-
-
-
1LossND
HTR3C-
-
-
-
3GainND
HTR3D-
-
-
-
3GainND
HTR3E-
-
-
-
3GainND
HTR4-
-
-
-
1LossND
HTR5A-
-
-
-
3GainND
HUWE1p.P2999L
Missense
SNP
1.000
NDNDND
HYAL1-
-
-
-
3GainND
HYAL2-
-
-
-
3GainND
HYAL3-
-
-
-
3GainND
HYAL4-
-
-
-
3GainND
HYDIN-
-
-
-
1LossND
HYLS1-
-
-
-
1LossND
HYOU1-
-
-
-
1LossND
HYPK-
-
-
-
1LossND
IARS2p.P247S
Missense
SNP
0.372
3GainND
IBA57-
-
-
-
3GainND
IBSP-
-
-
-
1LossND
ICA1p.E352K
Missense
SNP
0.305
3GainND
IDH2p.Q267*
Nonsense
DNP
0.463
2-ND
IER5-
-
-
-
3GainND
IFI16-
-
-
-
3GainND
IFI44-
-
-
-
1LossND
IFI44L-
-
-
-
1LossND
IFITM1-
-
-
-
1LossND
IFITM10-
-
-
-
1LossND
IFITM2-
-
-
-
1LossND
IFITM3-
-
-
-
1LossND
IFITM5-
-
-
-
1LossND
IFNA1-
-
-
-
1LossND
IFNA10-
-
-
-
1LossND
IFNA13-
-
-
-
1LossND
IFNA14-
-
-
-
1LossND
IFNA16-
-
-
-
1LossND
IFNA17-
-
-
-
1LossND
IFNA2-
-
-
-
1LossND
IFNA21-
-
-
-
1LossND
IFNA4-
-
-
-
1LossND
IFNA5-
-
-
-
1LossND
IFNA6-
-
-
-
1LossND
IFNA7-
-
-
-
1LossND
IFNA8-
-
-
-
1LossND
IFNB1-
-
-
-
1LossND
IFNE-
-
-
-
1LossND
IFNGR1-
-
-
-
1LossND
IFNW1-
-
-
-
1LossND
IFRD1-
-
-
-
3GainND
IFRD2-
-
-
-
3GainND
IFT122-
-
-
-
3GainND
IFT46-
-
-
-
1LossND
IFT57-
-
-
-
3GainND
IFT80-
-
-
-
3GainND
IFT88-
-
-
-
1LossND
IGF2-
-
-
-
1LossND
IGF2BP2-
-
-
-
3GainND
IGF2R-
-
-
-
1LossND
IGFBP7-
-
-
-
1LossND
IGFN1-
-
-
-
3GainND
IGHMBP2-
-
-
-
1LossND
IGIP-
-
-
-
1LossND
IGKV1D-8p.T96I
Missense
SNP
0.321
NDNDND
IGLV1-44p.Y69H
Missense
SNP
0.497
NDNDND
IGLV5-37p.E108*
Nonsense
SNP
0.426
NDNDND
IGSF10p.P1240S
Missense
SNP
0.335
3GainND
IGSF11-
-
-
-
3GainND
IGSF22-
-
-
-
3GainND
IGSF3-
-
-
-
1LossND
IGSF8-
-
-
-
3GainND
IGSF9-
-
-
-
3GainND
IGSF9B-
-
-
-
1LossND
IK-
-
-
-
1LossND
IKBKE-
-
-
-
3GainND
IL10-
-
-
-
3GainND
IL10RA-
-
-
-
1LossND
IL12A-
-
-
-
3GainND
IL12B-
-
-
-
1LossND
IL12RB2-
-
-
-
1LossND
IL13-
-
-
-
1LossND
IL17B-
-
-
-
1LossND
IL17C-
-
-
-
1LossND
IL17D-
-
-
-
1LossND
IL17RBp.X224_splice
Splice_Site
SNP
0.469
3GainND
IL17RC-
-
-
-
3GainND
IL17RD-
-
-
-
3GainND
IL17RE-
-
-
-
3GainND
IL18-
-
-
-
1LossND
IL18BP-
-
-
-
1LossND
IL19-
-
-
-
3GainND
IL1RAP-
-
-
-
3GainND
IL2-
-
-
-
1LossND
IL20-
-
-
-
3GainND
IL20RA-
-
-
-
1LossND
IL20RB-
-
-
-
3GainND
IL21-
-
-
-
1LossND
IL22RA2-
-
-
-
1LossND
IL23R-
-
-
-
1LossND
IL24-
-
-
-
3GainND
IL3-
-
-
-
1LossND
IL33-
-
-
-
1LossND
IL34-
-
-
-
1LossND
IL4-
-
-
-
1LossND
IL5-
-
-
-
1LossND
IL5RA-
-
-
-
3GainND
IL6R-
-
-
-
3GainND
IL9-
-
-
-
1LossND
ILDR1-
-
-
-
3GainND
ILDR2-
-
-
-
3GainND
ILF2-
-
-
-
3GainND
ILK-
-
-
-
1LossND
IMMP1L-
-
-
-
3GainND
IMMP2L-
-
-
-
3GainND
IMPDH1-
-
-
-
3GainND
IMPDH2-
-
-
-
3GainND
IMPG2-
-
-
-
3GainND
INAVA-
-
-
-
3GainND
INCENP-
-
-
-
1LossND
ING1-
-
-
-
1LossND
ING2-
-
-
-
1LossND
ING3p.S318F
Missense
DNP
0.667
3GainND
INKA1-
-
-
-
3GainND
INKA2-
-
-
-
1LossND
INPPL1-
-
-
-
1LossND
INS-
-
-
-
1LossND
INS-IGF2-
-
-
-
1LossND
INSC-
-
-
-
3GainND
INSIG1-
-
-
-
3GainND
INSL4-
-
-
-
1LossND
INSL5-
-
-
-
1LossND
INSL6-
-
-
-
1LossND
INSRR-
-
-
-
3GainND
INSYN2B-
-
-
-
1LossND
INTS1p.P456S
Missense
SNP
0.287
3GainND
INTS12-
-
-
-
1LossND
INTS3-
-
-
-
3GainND
INTS4-
-
-
-
1LossND
INTS4P1.
Splice_Site
SNP
0.405
NDNDND
INTS5-
-
-
-
1LossND
INTS7-
-
-
-
3GainND
INTU-
-
-
-
1LossND
IP6K1-
-
-
-
3GainND
IP6K2-
-
-
-
3GainND
IP6K3p.E159K
Missense
SNP
0.426
2-ND
IPCEF1-
-
-
-
1LossND
IPO5-
-
-
-
1LossND
IPO9-
-
-
-
3GainND
IQCB1-
-
-
-
3GainND
IQCE-
-
-
-
3GainND
IQCF1-
-
-
-
3GainND
IQCF2-
-
-
-
3GainND
IQCF3-
-
-
-
3GainND
IQCF5-
-
-
-
3GainND
IQCF6-
-
-
-
3GainND
IQCG-
-
-
-
3GainND
IQCJ-
-
-
-
3GainND
IQCJ-SCHIP1-
-
-
-
3GainND
IQGAP3-
-
-
-
3GainND
IQSEC1-
-
-
-
3GainND
IQSEC3p.S855F
p.T946A
Missense
Missense
SNP
SNP
0.574
0.567
2-ND
IQUB-
-
-
-
3GainND
IRAK2-
-
-
-
3GainND
IRF1-
-
-
-
1LossND
IRF2-
-
-
-
1LossND
IRF2BP2-
-
-
-
3GainND
IRF5-
-
-
-
3GainND
IRF6-
-
-
-
3GainND
IRF7-
-
-
-
1LossND
IRF8-
-
-
-
1LossND
IRGM-
-
-
-
1LossND
IRS2p.P910L
Missense
SNP
0.966
1LossND
IRX3-
-
-
-
1LossND
IRX5-
-
-
-
1LossND
IRX6-
-
-
-
1LossND
ISG20L2-
-
-
-
3GainND
ISLR2p.C260R
Missense
SNP
0.138
2-ND
ISOC1-
-
-
-
1LossND
IST1-
-
-
-
1LossND
ISY1-
-
-
-
3GainND
ISY1-RAB43-
-
-
-
3GainND
ITFG1-
-
-
-
1LossND
ITGA10-
-
-
-
3GainND
ITGA11p.G307E
Missense
SNP
0.462
2-ND
ITGA9-
-
-
-
3GainND
ITGADp.E545K
Missense
SNP
0.478
2-ND
ITGALp.Q818*
Nonsense
SNP
0.449
2-ND
ITGAMp.G934E
Missense
SNP
0.537
2-ND
ITGB2p.D231N
Missense
SNP
0.527
2-ND
ITGB5-
-
-
-
3GainND
ITGBL1p.D456N
Missense
SNP
1.000
1LossND
ITIH1-
-
-
-
3GainND
ITIH3-
-
-
-
3GainND
ITIH4-
-
-
-
3GainND
ITK-
-
-
-
1LossND
ITLN1-
-
-
-
3GainND
ITLN2-
-
-
-
3GainND
ITPKB-
-
-
-
3GainND
ITPR1-
-
-
-
3GainND
IVL-
-
-
-
3GainND
IVNS1ABP-
-
-
-
3GainND
IYD-
-
-
-
1LossND
IZUMO1R-
-
-
-
1LossND
IZUMO3-
-
-
-
1LossND
JADE1-
-
-
-
1LossND
JADE2-
-
-
-
1LossND
JAG1p.A155T
Missense
SNP
0.508
2-ND
JAGN1-
-
-
-
3GainND
JAK2-
-
-
-
1LossND
JAKMIP2-
-
-
-
1LossND
JAM3-
-
-
-
1LossND
JAML-
-
-
-
1LossND
JCHAIN-
-
-
-
1LossND
JHY-
-
-
-
1LossND
JMJD4-
-
-
-
3GainND
JPH3-
-
-
-
1LossND
JRKL-
-
-
-
3GainND
JTB-
-
-
-
3GainND
JUPp.E387K
Missense
SNP
0.488
2-ND
KALRNp.X24_splice
p.E716K
Splice_Site
Missense
SNP
SNP
0.424
0.569
3GainND
KANK1-
-
-
-
1LossND
KANK4p.G549E
Missense
SNP
0.432
2-ND
KARS-
-
-
-
1LossND
KAT2B-
-
-
-
3GainND
KAT5-
-
-
-
1LossND
KAT6Bp.P464L
Missense
SNP
0.446
2-ND
KATNA1-
-
-
-
1LossND
KATNAL1-
-
-
-
1LossND
KATNB1-
-
-
-
1LossND
KBTBD11p.D506N
Missense
SNP
0.500
2-ND
KBTBD12-
-
-
-
3GainND
KBTBD8-
-
-
-
3GainND
KCNA10-
-
-
-
1LossND
KCNA2-
-
-
-
1LossND
KCNA3-
-
-
-
1LossND
KCNA4-
-
-
-
3GainND
KCNAB1-
-
-
-
3GainND
KCNAB3p.P28L
Missense
SNP
0.536
2-ND
KCNB2p.S655F
Missense
SNP
0.531
2-ND
KCNC1-
-
-
-
3GainND
KCNC4-
-
-
-
1LossND
KCND2-
-
-
-
3GainND
KCND3-
-
-
-
1LossND
KCNE3-
-
-
-
1LossND
KCNG4p.W74*
Nonsense
SNP
1.000
1LossND
KCNH1-
-
-
-
3GainND
KCNH2-
-
-
-
3GainND
KCNH8p.S536F
Missense
SNP
0.330
3GainND
KCNIP1-
-
-
-
1LossND
KCNJ1-
-
-
-
1LossND
KCNJ10-
-
-
-
3GainND
KCNJ11-
-
-
-
3GainND
KCNJ5-
-
-
-
1LossND
KCNJ9-
-
-
-
3GainND
KCNK1-
-
-
-
3GainND
KCNK2-
-
-
-
3GainND
KCNK4-
-
-
-
1LossND
KCNK7-
-
-
-
1LossND
KCNK9p.G97E
Missense
SNP
0.458
2-ND
KCNMB1-
-
-
-
1LossND
KCNMB2p.E93K
Missense
SNP
0.623
3GainND
KCNMB3-
-
-
-
3GainND
KCNN2-
-
-
-
1LossND
KCNN3-
-
-
-
3GainND
KCNQ1-
-
-
-
1LossND
KCNS3p.Y321H
Missense
SNP
0.455
2-ND
KCNT1p.W425*
Nonsense
SNP
0.437
2-ND
KCNT2-
-
-
-
3GainND
KCNV2-
-
-
-
1LossND
KCP-
-
-
-
3GainND
KCTD14-
-
-
-
1LossND
KCTD16-
-
-
-
1LossND
KCTD19-
-
-
-
1LossND
KCTD21-
-
-
-
1LossND
KCTD3-
-
-
-
3GainND
KCTD6-
-
-
-
3GainND
KDELC1-
-
-
-
1LossND
KDELC2-
-
-
-
1LossND
KDELR2-
-
-
-
3GainND
KDM2A-
-
-
-
1LossND
KDM3B-
-
-
-
1LossND
KDM4C-
-
-
-
1LossND
KDM4D-
-
-
-
1LossND
KDM4E-
-
-
-
1LossND
KDM4F-
-
-
-
1LossND
KDM5Ap.P1533L
Missense
SNP
0.464
2-ND
KDM5B-
-
-
-
3GainND
KDM7A-
-
-
-
3GainND
KDRp.R1022Q
Missense
SNP
1.000
1LossND
KEL-
-
-
-
3GainND
KHDC1Lp.T62I
Missense
SNP
0.483
2-ND
KHDC4-
-
-
-
3GainND
KHDRBS2p.G308E
Missense
SNP
0.414
2-ND
KIAA0040-
-
-
-
3GainND
KIAA0232p.S1368F
Missense
SNP
0.511
2-ND
KIAA0408-
-
-
-
1LossND
KIAA0513-
-
-
-
1LossND
KIAA0895L-
-
-
-
1LossND
KIAA1024L-
-
-
-
1LossND
KIAA1109-
-
-
-
1LossND
KIAA1143-
-
-
-
3GainND
KIAA1147-
-
-
-
3GainND
KIAA1191-
-
-
-
1LossND
KIAA1211-
-
-
-
1LossND
KIAA1217p.D1772N
p.P1919L
Missense
Missense
SNP
SNP
0.513
0.433
2-ND
KIAA1257-
-
-
-
3GainND
KIAA1324-
-
-
-
1LossND
KIAA1324Lp.P357L
Missense
SNP
0.554
2-ND
KIAA1462p.S571L
Missense
SNP
0.423
NDNDND
KIAA1522-
-
-
-
4GainND
KIAA1549-
-
-
-
3GainND
KIAA1549L-
-
-
-
3GainND
KIAA1614-
-
-
-
3GainND
KIAA2026-
-
-
-
1LossND
KIF14-
-
-
-
3GainND
KIF15-
-
-
-
3GainND
KIF17p.E523K
Missense
DNP
0.494
2-ND
KIF18A-
-
-
-
3GainND
KIF20A-
-
-
-
1LossND
KIF21B-
-
-
-
3GainND
KIF25-
-
-
-
1LossND
KIF26B-
-
-
-
3GainND
KIF3A-
-
-
-
1LossND
KIF3Bp.R132Q
Missense
SNP
0.498
2-ND
KIF4B-
-
-
-
1LossND
KIF5Ap.E453K
Missense
SNP
0.465
2-ND
KIF9-
-
-
-
3GainND
KIFAP3-
-
-
-
3GainND
KIFC3-
-
-
-
1LossND
KIR3DL1p.R52C
Missense
SNP
0.491
2-ND
KIR3DL3p.L226F
Missense
SNP
0.496
2-ND
KIRREL1-
-
-
-
3GainND
KIRREL3-
-
-
-
1LossND
KISS1-
-
-
-
3GainND
KIT-
-
-
-
1LossND
KL-
-
-
-
1LossND
KLC2-
-
-
-
1LossND
KLF14-
-
-
-
3GainND
KLF15-
-
-
-
3GainND
KLHDC10-
-
-
-
3GainND
KLHDC4-
-
-
-
1LossND
KLHDC8A-
-
-
-
3GainND
KLHDC8B-
-
-
-
3GainND
KLHDC9-
-
-
-
3GainND
KLHL12-
-
-
-
3GainND
KLHL14p.G477E
Missense
SNP
0.437
2-ND
KLHL18-
-
-
-
3GainND
KLHL2-
-
-
-
1LossND
KLHL20-
-
-
-
3GainND
KLHL24-
-
-
-
3GainND
KLHL3-
-
-
-
1LossND
KLHL32-
-
-
-
1LossND
KLHL35-
-
-
-
1LossND
KLHL36-
-
-
-
1LossND
KLHL40-
-
-
-
3GainND
KLHL6-
-
-
-
3GainND
KLHL8-
-
-
-
1LossND
KLHL9-
-
-
-
1LossND
KLKB1-
-
-
-
1LossND
KLRG2-
-
-
-
3GainND
KMO-
-
-
-
3GainND
KMT2A-
-
-
-
1LossND
KMT2C-
-
-
-
3GainND
KMT5B-
-
-
-
1LossND
KNG1-
-
-
-
3GainND
KPNA1-
-
-
-
3GainND
KPNA4-
-
-
-
3GainND
KPNA5-
-
-
-
1LossND
KPRP-
-
-
-
3GainND
KRASp.G12C
Missense
SNP
0.433
2-ND
KRBA1-
-
-
-
3GainND
KRBOX1-
-
-
-
3GainND
KRT23p.G198R
Missense
SNP
0.500
2-ND
KRT33Ap.S309F
Missense
SNP
0.472
2-ND
KRT84p.G43R
Missense
SNP
0.469
2-ND
KRTAP5-1-
-
-
-
1LossND
KRTAP5-10-
-
-
-
1LossND
KRTAP5-11-
-
-
-
1LossND
KRTAP5-2-
-
-
-
1LossND
KRTAP5-3-
-
-
-
1LossND
KRTAP5-4-
-
-
-
1LossND
KRTAP5-5-
-
-
-
1LossND
KRTAP5-6-
-
-
-
1LossND
KRTAP5-7-
-
-
-
1LossND
KRTAP5-8-
-
-
-
1LossND
KRTAP5-9-
-
-
-
1LossND
KRTAP9-4p.R103K
Missense
SNP
0.514
2-ND
KRTCAP2-
-
-
-
3GainND
KTI12p.G142E
Missense
SNP
0.482
2-ND
KY-
-
-
-
3GainND
KYAT3-
-
-
-
1LossND
L1TD1p.E466K
Missense
SNP
0.518
2-ND
L3MBTL3-
-
-
-
1LossND
LACTBL1p.K198E
Missense
SNP
0.557
2-ND
LAD1-
-
-
-
3GainND
LAMA2-
-
-
-
1LossND
LAMA4p.S1632F
Missense
SNP
1.000
1LossND
LAMB2-
-
-
-
3GainND
LAMB3p.G1149R
Missense
SNP
0.656
3GainND
LAMC1-
-
-
-
3GainND
LAMC2-
-
-
-
3GainND
LAMP1-
-
-
-
1LossND
LAMP2p.L150F
Missense
DNP
1.000
NDNDND
LAMP3-
-
-
-
3GainND
LAMTOR1-
-
-
-
1LossND
LAMTOR2-
-
-
-
3GainND
LAMTOR3-
-
-
-
1LossND
LAMTOR5-
-
-
-
1LossND
LARP1-
-
-
-
1LossND
LARP1B-
-
-
-
1LossND
LARP7-
-
-
-
1LossND
LARS-
-
-
-
1LossND
LARS2-
-
-
-
3GainND
LATS1-
-
-
-
1LossND
LATS2-
-
-
-
1LossND
LAX1-
-
-
-
3GainND
LAYN-
-
-
-
1LossND
LBHD1-
-
-
-
1LossND
LBR-
-
-
-
3GainND
LCAT-
-
-
-
1LossND
LCE1A-
-
-
-
3GainND
LCE1B-
-
-
-
3GainND
LCE1C-
-
-
-
3GainND
LCE1E-
-
-
-
3GainND
LCE1F-
-
-
-
3GainND
LCE2A-
-
-
-
3GainND
LCE2B-
-
-
-
3GainND
LCE2C-
-
-
-
3GainND
LCE2D-
-
-
-
3GainND
LCE3A-
-
-
-
3GainND
LCE3B-
-
-
-
3GainND
LCE3C-
-
-
-
3GainND
LCE3D-
-
-
-
3GainND
LCE3E-
-
-
-
3GainND
LCE4A-
-
-
-
3GainND
LCE5A-
-
-
-
3GainND
LCE6A-
-
-
-
3GainND
LCKp.R39Q
Missense
SNP
0.410
2-ND
LCMT2-
-
-
-
1LossND
LCORp.Q1013H
Missense
SNP
0.459
2-ND
LCP2-
-
-
-
1LossND
LDHA-
-
-
-
3GainND
LDHAL6A-
-
-
-
3GainND
LDHC-
-
-
-
3GainND
LDHD-
-
-
-
1LossND
LDLRAD3-
-
-
-
3GainND
LEAP2-
-
-
-
1LossND
LECT2-
-
-
-
1LossND
LEF1-
-
-
-
1LossND
LEFTY1-
-
-
-
3GainND
LEFTY2-
-
-
-
3GainND
LEKR1-
-
-
-
3GainND
LELP1-
-
-
-
3GainND
LEMD1-
-
-
-
3GainND
LENEP-
-
-
-
3GainND
LEO1-
-
-
-
1LossND
LEPp.Q96*
Nonsense
SNP
0.676
3GainND
LEPRp.W646*
p.R1088T
Nonsense
Missense
SNP
SNP
0.462
0.501
2-ND
LFNG-
-
-
-
3GainND
LGALS1-
-
-
-
3GainND
LGALS12-
-
-
-
1LossND
LGALS2-
-
-
-
3GainND
LGALS8-
-
-
-
3GainND
LGR4-
-
-
-
3GainND
LGR6-
-
-
-
3GainND
LHFPp.A180V
Missense
SNP
0.577
NDNDND
LHFPL4-
-
-
-
3GainND
LHX4-
-
-
-
3GainND
LHX8-
-
-
-
1LossND
LHX9-
-
-
-
3GainND
LIG3p.T568R
Missense
SNP
0.445
2-ND
LIG4-
-
-
-
1LossND
LIMD1-
-
-
-
3GainND
LIN28B-
-
-
-
1LossND
LIN54-
-
-
-
1LossND
LIN7C-
-
-
-
3GainND
LIN9-
-
-
-
3GainND
LINGO4-
-
-
-
3GainND
LIPEp.A860T
Missense
SNP
0.511
2-ND
LIPH-
-
-
-
3GainND
LIPT2-
-
-
-
1LossND
LIX1L-
-
-
-
3GainND
LLCFC1-
-
-
-
3GainND
LMAN2-
-
-
-
1LossND
LMBR1-
-
-
-
3GainND
LMCD1-
-
-
-
3GainND
LMLN-
-
-
-
3GainND
LMNA-
-
-
-
3GainND
LMNB1-
-
-
-
1LossND
LMNTD2-
-
-
-
1LossND
LMO2-
-
-
-
3GainND
LMO4-
-
-
-
1LossND
LMO7p.P531L
Missense
SNP
0.519
2-ND
LMOD1-
-
-
-
3GainND
LMOD2-
-
-
-
3GainND
LMOD3-
-
-
-
3GainND
LMTK2p.S1424P
Missense
SNP
0.430
2-ND
LMX1A-
-
-
-
3GainND
LNP1-
-
-
-
3GainND
LNX1-
-
-
-
1LossND
LNX2-
-
-
-
1LossND
LONP2-
-
-
-
1LossND
LOR-
-
-
-
3GainND
LOX-
-
-
-
1LossND
LPA-
-
-
-
1LossND
LPAR3-
-
-
-
1LossND
LPCAT2-
-
-
-
1LossND
LPGAT1-
-
-
-
3GainND
LPOp.E490K
Missense
SNP
0.568
2-ND
LPP-
-
-
-
3GainND
LPXN-
-
-
-
1LossND
LRAT-
-
-
-
1LossND
LRBA-
-
-
-
1LossND
LRCH3-
-
-
-
3GainND
LRCOL1-
-
-
-
1LossND
LRFN4-
-
-
-
1LossND
LRGUK-
-
-
-
3GainND
LRIF1-
-
-
-
1LossND
LRIG1-
-
-
-
3GainND
LRIG2-
-
-
-
1LossND
LRIT3-
-
-
-
1LossND
LRP11-
-
-
-
1LossND
LRP2BP-
-
-
-
1LossND
LRP5-
-
-
-
1LossND
LRRC10B-
-
-
-
1LossND
LRRC15-
-
-
-
3GainND
LRRC2-
-
-
-
3GainND
LRRC29-
-
-
-
1LossND
LRRC31-
-
-
-
3GainND
LRRC32-
-
-
-
1LossND
LRRC34-
-
-
-
3GainND
LRRC36-
-
-
-
1LossND
LRRC39-
-
-
-
1LossND
LRRC3B-
-
-
-
3GainND
LRRC4-
-
-
-
3GainND
LRRC40-
-
-
-
1LossND
LRRC4C-
-
-
-
5AmpND
LRRC52-
-
-
-
3GainND
LRRC53-
-
-
-
1LossND
LRRC55-
-
-
-
1LossND
LRRC56-
-
-
-
1LossND
LRRC57-
-
-
-
1LossND
LRRC58-
-
-
-
3GainND
LRRC61-
-
-
-
3GainND
LRRC66-
-
-
-
1LossND
LRRC7-
-
-
-
1LossND
LRRC71-
-
-
-
3GainND
LRRC72p.R156C
Missense
SNP
0.531
2-ND
LRRC8B-
-
-
-
1LossND
LRRC8C-
-
-
-
1LossND
LRRC8D-
-
-
-
1LossND
LRRFIP2-
-
-
-
3GainND
LRRIQ3-
-
-
-
1LossND
LRRIQ4-
-
-
-
3GainND
LRRK1p.P664S
Missense
DNP
0.421
2-ND
LRRN1-
-
-
-
3GainND
LRRN2-
-
-
-
3GainND
LRRN3-
-
-
-
3GainND
LRRN4CL-
-
-
-
1LossND
LRRTM2p.G356E
Missense
SNP
1.000
1LossND
LRSAM1p.E307K
Missense
DNP
0.536
2-ND
LRTM1-
-
-
-
3GainND
LRTM2p.S367F
Missense
SNP
0.459
2-ND
LRTOMT-
-
-
-
1LossND
LSAMP-
-
-
-
3GainND
LSG1-
-
-
-
3GainND
LSM11-
-
-
-
1LossND
LSM3-
-
-
-
3GainND
LSM6-
-
-
-
1LossND
LSM8-
-
-
-
3GainND
LSMEM1-
-
-
-
3GainND
LSMEM2-
-
-
-
3GainND
LSP1-
-
-
-
1LossND
LTBP2p.S668F
Missense
SNP
0.468
2-ND
LTBP3-
-
-
-
1LossND
LTC4S-
-
-
-
1LossND
LTFp.L610F
Missense
SNP
0.363
3GainND
LTO1-
-
-
-
1LossND
LTV1-
-
-
-
1LossND
LUC7L2-
-
-
-
3GainND
LURAP1L-
-
-
-
1LossND
LUZP2-
-
-
-
3GainND
LUZP6-
-
-
-
3GainND
LVRN-
-
-
-
1LossND
LXN-
-
-
-
3GainND
LY9-
-
-
-
3GainND
LYPD8-
-
-
-
3GainND
LYPLAL1-
-
-
-
3GainND
LYRM7-
-
-
-
1LossND
LYSMD1-
-
-
-
3GainND
LYSMD2-
-
-
-
1LossND
LYST-
-
-
-
3GainND
LYZL4-
-
-
-
3GainND
LZTFL1-
-
-
-
3GainND
MAATS1-
-
-
-
3GainND
MAB21L1-
-
-
-
1LossND
MAB21L2-
-
-
-
1LossND
MAB21L3-
-
-
-
1LossND
MACROD1-
-
-
-
1LossND
MAD1L1-
-
-
-
3GainND
MAD2L1-
-
-
-
1LossND
MAEL-
-
-
-
3GainND
MAF-
-
-
-
1LossND
MAFK-
-
-
-
3GainND
MAGEF1-
-
-
-
3GainND
MAGEL2-
-
-
-
1LossND
MAGI1-
-
-
-
3GainND
MAGI3p.R1314Q
Missense
SNP
0.980
1LossND
MAJIN-
-
-
-
1LossND
MAML1-
-
-
-
1LossND
MAML2-
-
-
-
1LossND
MAML3-
-
-
-
1LossND
MAMSTRp.R76K
Missense
SNP
0.479
2-ND
MAN1A1-
-
-
-
1LossND
MAN1A2-
-
-
-
1LossND
MAN1C1p.P616S
Missense
SNP
0.486
2-ND
MAN2A1-
-
-
-
1LossND
MANBA-
-
-
-
1LossND
MANEA-
-
-
-
1LossND
MANF-
-
-
-
3GainND
MAP10-
-
-
-
3GainND
MAP1A-
-
-
-
1LossND
MAP1LC3B-
-
-
-
1LossND
MAP1LC3C-
-
-
-
3GainND
MAP2K5p.I104L
Missense
SNP
0.520
2-ND
MAP3K11-
-
-
-
1LossND
MAP3K13-
-
-
-
3GainND
MAP3K21-
-
-
-
3GainND
MAP3K4-
-
-
-
1LossND
MAP3K5-
-
-
-
1LossND
MAP4p.P1475L
Missense
SNP
0.604
3GainND
MAP4K2-
-
-
-
1LossND
MAP4K4p.R998Q
Missense
SNP
0.494
2-ND
MAP6-
-
-
-
1LossND
MAP6D1-
-
-
-
3GainND
MAP7-
-
-
-
1LossND
MAP9-
-
-
-
1LossND
MAPK10-
-
-
-
1LossND
MAPK6-
-
-
-
1LossND
MAPK9-
-
-
-
1LossND
MAPKAP1-
-
-
-
3GainND
MAPKAPK2-
-
-
-
3GainND
MAPKAPK3-
-
-
-
3GainND
MARC1-
-
-
-
3GainND
MARC2-
-
-
-
3GainND
MARCH1-
-
-
-
1LossND
MARCH10p.E665K
Missense
SNP
0.415
2-ND
MARCH3-
-
-
-
1LossND
MARCKS-
-
-
-
1LossND
MARK1-
-
-
-
3GainND
MARK2-
-
-
-
1LossND
MARVELD3-
-
-
-
1LossND
MAS1-
-
-
-
1LossND
MASP1-
-
-
-
3GainND
MAT2B-
-
-
-
1LossND
MATR3-
-
-
-
1LossND
MB21D2-
-
-
-
3GainND
MBD4-
-
-
-
3GainND
MBNL1-
-
-
-
3GainND
MBNL2-
-
-
-
1LossND
MBTPS1-
-
-
-
1LossND
MC1R-
-
-
-
1LossND
MCAM-
-
-
-
1LossND
MCC-
-
-
-
1LossND
MCCC1-
-
-
-
3GainND
MCF2L-
-
-
-
1LossND
MCF2L2-
-
-
-
3GainND
MCHR2-
-
-
-
1LossND
MCL1-
-
-
-
3GainND
MCM2-
-
-
-
3GainND
MCM9-
-
-
-
1LossND
MCOLN2-
-
-
-
1LossND
MCOLN3-
-
-
-
1LossND
MCRIP1p.P77L
Missense
DNP
0.513
2-ND
MCTP1p.E310K
Missense
SNP
0.410
2-ND
MCUB-
-
-
-
1LossND
MDFIC-
-
-
-
3GainND
MDM4-
-
-
-
3GainND
ME3-
-
-
-
1LossND
MECOMp.R711K
Missense
SNP
0.672
3GainND
MED12L-
-
-
-
3GainND
MED17-
-
-
-
1LossND
MED19-
-
-
-
1LossND
MED23-
-
-
-
1LossND
MED7-
-
-
-
1LossND
MEDAG-
-
-
-
1LossND
MEF2Bp.P189L
Missense
SNP
0.458
2-ND
MEF2D-
-
-
-
3GainND
MEFVp.G320R
Missense
SNP
0.487
2-ND
MEGF10-
-
-
-
1LossND
MELTF-
-
-
-
3GainND
MEN1-
-
-
-
1LossND
MEPE-
-
-
-
1LossND
MEST-
-
-
-
3GainND
MET-
-
-
-
3GainND
METAP1-
-
-
-
1LossND
METTL11B-
-
-
-
3GainND
METTL13-
-
-
-
3GainND
METTL14-
-
-
-
1LossND
METTL15-
-
-
-
3GainND
METTL18-
-
-
-
3GainND
METTL21C-
-
-
-
1LossND
METTL24-
-
-
-
1LossND
METTL2B-
-
-
-
3GainND
METTL6-
-
-
-
3GainND
MEX3A-
-
-
-
3GainND
MFAP1-
-
-
-
1LossND
MFAP3-
-
-
-
1LossND
MFAP3L-
-
-
-
1LossND
MFN1-
-
-
-
3GainND
MFNG-
-
-
-
3GainND
MFRP-
-
-
-
1LossND
MFSD1-
-
-
-
3GainND
MFSD14A-
-
-
-
1LossND
MFSD2Ap.W122*
Nonsense
SNP
0.463
2-ND
MFSD4A-
-
-
-
3GainND
MFSD4B-
-
-
-
1LossND
MFSD8-
-
-
-
1LossND
MGAM-
-
-
-
3GainND
MGAM2-
-
-
-
3GainND
MGARP-
-
-
-
1LossND
MGAT1-
-
-
-
1LossND
MGAT4B-
-
-
-
1LossND
MGLL-
-
-
-
3GainND
MGST2-
-
-
-
1LossND
MGST3-
-
-
-
3GainND
MIA3-
-
-
-
3GainND
MICAL1-
-
-
-
1LossND
MICALL2-
-
-
-
3GainND
MICU2-
-
-
-
1LossND
MIER1-
-
-
-
1LossND
MIGA1-
-
-
-
1LossND
MINDY1-
-
-
-
3GainND
MINDY4B-
-
-
-
3GainND
MIOS-
-
-
-
3GainND
MIPEP-
-
-
-
1LossND
MITF-
-
-
-
3GainND
MIXL1-
-
-
-
3GainND
MKLN1-
-
-
-
3GainND
MKRN1-
-
-
-
3GainND
MKRN2-
-
-
-
3GainND
MKRN2OS-
-
-
-
3GainND
MKRN3-
-
-
-
1LossND
MLANA-
-
-
-
1LossND
MLF1-
-
-
-
3GainND
MLH1-
-
-
-
3GainND
MLIPp.P789S
Missense
SNP
0.463
2-ND
MLKL-
-
-
-
1LossND
MLLT11-
-
-
-
3GainND
MLLT3-
-
-
-
1LossND
MLNp.E59K
Missense
SNP
0.369
2-ND
MLYCD-
-
-
-
1LossND
MMAA-
-
-
-
1LossND
MMD2-
-
-
-
3GainND
MME-
-
-
-
3GainND
MMP15-
-
-
-
1LossND
MMP17-
-
-
-
1LossND
MMP2-
-
-
-
1LossND
MMP26-
-
-
-
1LossND
MMRN1-
-
-
-
1LossND
MMS22L-
-
-
-
1LossND
MND1-
-
-
-
1LossND
MNDA-
-
-
-
3GainND
MNS1-
-
-
-
1LossND
MNX1-
-
-
-
3GainND
MOB1B-
-
-
-
1LossND
MOB2-
-
-
-
1LossND
MOBP-
-
-
-
3GainND
MOGAT2-
-
-
-
1LossND
MON1A-
-
-
-
3GainND
MON1B-
-
-
-
1LossND
MORC1-
-
-
-
3GainND
MOV10-
-
-
-
1LossND
MOXD1-
-
-
-
1LossND
MPC1-
-
-
-
1LossND
MPC2-
-
-
-
3GainND
MPDZ-
-
-
-
1LossND
MPEG1-
-
-
-
1LossND
MPHOSPH6-
-
-
-
1LossND
MPHOSPH8-
-
-
-
1LossND
MPPED2-
-
-
-
3GainND
MPZ-
-
-
-
3GainND
MPZL1-
-
-
-
3GainND
MPZL2-
-
-
-
1LossND
MPZL3-
-
-
-
1LossND
MR1-
-
-
-
3GainND
MRAS-
-
-
-
3GainND
MRE11-
-
-
-
1LossND
MRGPRD-
-
-
-
1LossND
MRGPRE-
-
-
-
1LossND
MRGPRF-
-
-
-
1LossND
MRGPRG-
-
-
-
1LossND
MRGPRX1-
-
-
-
3GainND
MRGPRX2-
-
-
-
3GainND
MRGPRX3-
-
-
-
3GainND
MRGPRX4-
-
-
-
3GainND
MRM2-
-
-
-
3GainND
MRNIP-
-
-
-
1LossND
MROH9-
-
-
-
3GainND
MRPL1-
-
-
-
1LossND
MRPL11-
-
-
-
1LossND
MRPL16-
-
-
-
1LossND
MRPL17-
-
-
-
1LossND
MRPL18-
-
-
-
1LossND
MRPL21-
-
-
-
1LossND
MRPL22-
-
-
-
1LossND
MRPL23-
-
-
-
1LossND
MRPL24-
-
-
-
3GainND
MRPL3-
-
-
-
3GainND
MRPL47-
-
-
-
3GainND
MRPL49-
-
-
-
1LossND
MRPL55-
-
-
-
3GainND
MRPL57-
-
-
-
1LossND
MRPL58p.W110*
Nonsense
SNP
0.532
2-ND
MRPL9-
-
-
-
3GainND
MRPS14-
-
-
-
3GainND
MRPS18C-
-
-
-
1LossND
MRPS21-
-
-
-
3GainND
MRPS22-
-
-
-
3GainND
MRPS25-
-
-
-
3GainND
MRPS33-
-
-
-
3GainND
MS4A1-
-
-
-
1LossND
MS4A10-
-
-
-
1LossND
MS4A12-
-
-
-
1LossND
MS4A13-
-
-
-
1LossND
MS4A14-
-
-
-
1LossND
MS4A15-
-
-
-
1LossND
MS4A18-
-
-
-
1LossND
MS4A2-
-
-
-
1LossND
MS4A3-
-
-
-
1LossND
MS4A4A-
-
-
-
1LossND
MS4A4E-
-
-
-
1LossND
MS4A5-
-
-
-
1LossND
MS4A6A-
-
-
-
1LossND
MS4A6E-
-
-
-
1LossND
MS4A7-
-
-
-
1LossND
MS4A8-
-
-
-
1LossND
MSANTD2-
-
-
-
1LossND
MSH4-
-
-
-
1LossND
MSL2-
-
-
-
3GainND
MSLNLp.G272D
Missense
SNP
0.460
2-ND
MSMO1-
-
-
-
1LossND
MST1-
-
-
-
3GainND
MST1R-
-
-
-
3GainND
MSTO1-
-
-
-
3GainND
MSX2-
-
-
-
1LossND
MT1A-
-
-
-
1LossND
MT1B-
-
-
-
1LossND
MT1E-
-
-
-
1LossND
MT1F-
-
-
-
1LossND
MT1G-
-
-
-
1LossND
MT1H-
-
-
-
1LossND
MT1HL1-
-
-
-
3GainND
MT1M-
-
-
-
1LossND
MT1X-
-
-
-
1LossND
MT2A-
-
-
-
1LossND
MT3-
-
-
-
1LossND
MT4-
-
-
-
1LossND
MTA2-
-
-
-
1LossND
MTAP-
-
-
-
1LossND
MTF2-
-
-
-
1LossND
MTFR2-
-
-
-
1LossND
MTHFD1L-
-
-
-
1LossND
MTHFD2L-
-
-
-
1LossND
MTHFSD-
-
-
-
1LossND
MTIF3-
-
-
-
1LossND
MTMR11-
-
-
-
3GainND
MTMR14-
-
-
-
3GainND
MTMR2-
-
-
-
1LossND
MTMR6-
-
-
-
1LossND
MTNR1A-
-
-
-
1LossND
MTNR1B-
-
-
-
1LossND
MTPN-
-
-
-
3GainND
MTR-
-
-
-
3GainND
MTRF1L-
-
-
-
1LossND
MTSS1L-
-
-
-
1LossND
MTTP-
-
-
-
1LossND
MTUS2-
-
-
-
1LossND
MTX1-
-
-
-
3GainND
MUC1-
-
-
-
3GainND
MUC13-
-
-
-
3GainND
MUC15p.E70K
Missense
SNP
0.382
3GainND
MUC16p.E12604K
Missense
SNP
0.192
2-ND
MUC2-
-
-
-
1LossND
MUC20-
-
-
-
3GainND
MUC4p.P726L
Missense
SNP
0.284
3GainND
MUC5AC-
-
-
-
1LossND
MUC5B-
-
-
-
1LossND
MUC6-
-
-
-
1LossND
MUC7-
-
-
-
1LossND
MUS81-
-
-
-
1LossND
MUSTN1-
-
-
-
3GainND
MVD-
-
-
-
1LossND
MVKp.A111V
Missense
DNP
0.477
2-ND
MX2p.P46S
Missense
SNP
0.507
2-ND
MXD3-
-
-
-
1LossND
MYB-
-
-
-
1LossND
MYBPH-
-
-
-
3GainND
MYBPHL-
-
-
-
1LossND
MYCBP2p.P2294S
Missense
SNP
0.461
2-ND
MYCT1-
-
-
-
1LossND
MYD88-
-
-
-
3GainND
MYEF2-
-
-
-
1LossND
MYEOV-
-
-
-
1LossND
MYH15-
-
-
-
3GainND
MYH3p.A1128V
Missense
SNP
0.390
2-ND
MYH6p.E22K
Missense
SNP
0.485
2-ND
MYL3-
-
-
-
3GainND
MYLK-
-
-
-
3GainND
MYLK3-
-
-
-
1LossND
MYNN-
-
-
-
3GainND
MYO16-
-
-
-
1LossND
MYO18Bp.A2177T
Missense
SNP
0.525
2-ND
MYO3Bp.H154Y
Missense
SNP
0.405
2-ND
MYO5A-
-
-
-
1LossND
MYO5C-
-
-
-
1LossND
MYO6p.H434Y
Missense
SNP
0.483
2-ND
MYO7A-
-
-
-
1LossND
MYOC-
-
-
-
3GainND
MYOCOS-
-
-
-
3GainND
MYOD1-
-
-
-
3GainND
MYOG-
-
-
-
3GainND
MYOT-
-
-
-
1LossND
MYOZ2-
-
-
-
1LossND
MYOZ3-
-
-
-
1LossND
MYRF-
-
-
-
1LossND
MYRIP-
-
-
-
3GainND
MYZAP-
-
-
-
1LossND
MZB1-
-
-
-
1LossND
N4BP1-
-
-
-
1LossND
N4BP2L1-
-
-
-
1LossND
N4BP2L2-
-
-
-
1LossND
N4BP3-
-
-
-
1LossND
NAA11-
-
-
-
1LossND
NAA15-
-
-
-
1LossND
NAA25p.X95_splice
Splice_Site
SNP
0.444
2-ND
NAA40-
-
-
-
1LossND
NAA50-
-
-
-
3GainND
NAA80-
-
-
-
3GainND
NAAA-
-
-
-
1LossND
NAALAD2-
-
-
-
1LossND
NAALADL1-
-
-
-
1LossND
NAALADL2p.H241L
Missense
SNP
0.321
3GainND
NADSYN1-
-
-
-
1LossND
NAE1-
-
-
-
1LossND
NAF1-
-
-
-
1LossND
NALCN-
-
-
-
1LossND
NAP1L4-
-
-
-
1LossND
NAP1L5-
-
-
-
1LossND
NARS2-
-
-
-
1LossND
NAT10-
-
-
-
3GainND
NAV1-
-
-
-
3GainND
NAV2-
-
-
-
3GainND
NAXD-
-
-
-
1LossND
NAXE-
-
-
-
3GainND
NBEA-
-
-
-
1LossND
NBEAL2-
-
-
-
3GainND
NBPF10-
-
-
-
3GainND
NBPF11-
-
-
-
3GainND
NBPF12-
-
-
-
3GainND
NBPF14-
-
-
-
3GainND
NBPF15-
-
-
-
3GainND
NBPF19-
-
-
-
3GainND
NBPF20-
-
-
-
3GainND
NBPF4-
-
-
-
1LossND
NBPF6-
-
-
-
1LossND
NBPF9-
-
-
-
3GainND
NCAM1-
-
-
-
1LossND
NCAPD3-
-
-
-
1LossND
NCAPG2-
-
-
-
3GainND
NCBP2-
-
-
-
3GainND
NCBP2-AS2-
-
-
-
3GainND
NCEH1-
-
-
-
3GainND
NCF2-
-
-
-
3GainND
NCK1-
-
-
-
3GainND
NCKIPSD-
-
-
-
3GainND
NCOA7-
-
-
-
1LossND
NCR3LG1-
-
-
-
3GainND
NCSTN-
-
-
-
3GainND
NDFIP1-
-
-
-
1LossND
NDN-
-
-
-
1LossND
NDNF-
-
-
-
1LossND
NDRG4-
-
-
-
1LossND
NDST1-
-
-
-
1LossND
NDST3-
-
-
-
1LossND
NDST4-
-
-
-
1LossND
NDUFA2-
-
-
-
1LossND
NDUFA4-
-
-
-
5AmpND
NDUFA5-
-
-
-
3GainND
NDUFAF3-
-
-
-
3GainND
NDUFAF4-
-
-
-
1LossND
NDUFB2-
-
-
-
3GainND
NDUFB4-
-
-
-
3GainND
NDUFB5-
-
-
-
3GainND
NDUFB9p.X137_splice
Splice_Site
SNP
0.496
2-ND
NDUFC1-
-
-
-
1LossND
NDUFC2-
-
-
-
1LossND
NDUFC2-KCTD14-
-
-
-
1LossND
NDUFS1p.X435_splice
Splice_Site
SNP
0.366
2-ND
NDUFS2-
-
-
-
3GainND
NDUFS8-
-
-
-
1LossND
NDUFV1-
-
-
-
1LossND
NEBp.R3149K
p.G714E
Missense
Missense
SNP
SNP
0.466
0.402
2-ND
NECAB2-
-
-
-
1LossND
NECTIN1-
-
-
-
1LossND
NECTIN3-
-
-
-
3GainND
NECTIN4-
-
-
-
3GainND
NEDD4-
-
-
-
1LossND
NEGR1-
-
-
-
1LossND
NEIL3-
-
-
-
1LossND
NEK1-
-
-
-
1LossND
NEK10-
-
-
-
3GainND
NEK11-
-
-
-
3GainND
NEK2-
-
-
-
3GainND
NEK4-
-
-
-
3GainND
NEK7-
-
-
-
3GainND
NELL1-
-
-
-
3GainND
NENF-
-
-
-
3GainND
NEPRO-
-
-
-
3GainND
NES-
-
-
-
3GainND
NETO1p.S179F
Missense
SNP
0.522
2-ND
NETO2-
-
-
-
1LossND
NEU3-
-
-
-
1LossND
NEURL1B-
-
-
-
1LossND
NEUROG1-
-
-
-
1LossND
NEUROG2-
-
-
-
1LossND
NEXN-
-
-
-
1LossND
NF1p.A1224V
Missense
SNP
0.467
2-ND
NFASC-
-
-
-
3GainND
NFAT5-
-
-
-
1LossND
NFATC3-
-
-
-
1LossND
NFIBp.S74F
Missense
SNP
1.000
1LossND
NFKB1-
-
-
-
1LossND
NFKBIZ-
-
-
-
3GainND
NFRKB-
-
-
-
1LossND
NGEFp.P544L
Missense
DNP
0.538
2-ND
NGF-
-
-
-
1LossND
NGLY1-
-
-
-
3GainND
NHEJ1p.S188F
Missense
SNP
0.520
2-ND
NHLH1-
-
-
-
3GainND
NHLH2-
-
-
-
1LossND
NHP2-
-
-
-
1LossND
NHSL1-
-
-
-
1LossND
NICN1-
-
-
-
3GainND
NID1p.R838C
Missense
SNP
0.375
3GainND
NIP7-
-
-
-
1LossND
NIPAL4-
-
-
-
1LossND
NISCH-
-
-
-
3GainND
NIT1-
-
-
-
3GainND
NIT2-
-
-
-
3GainND
NKAIN2-
-
-
-
1LossND
NKAPD1-
-
-
-
1LossND
NKD1-
-
-
-
1LossND
NKIRAS1-
-
-
-
3GainND
NKTR-
-
-
-
3GainND
NKX2-5-
-
-
-
1LossND
NKX6-1-
-
-
-
1LossND
NLGN1-
-
-
-
3GainND
NLRC5-
-
-
-
1LossND
NLRP14-
-
-
-
1LossND
NLRP3-
-
-
-
3GainND
NLRP4p.E21K
Missense
SNP
0.522
2-ND
NLRP6-
-
-
-
1LossND
NLRP7p.S1025F
Missense
SNP
0.492
2-ND
NLRP8p.E38K
Missense
SNP
0.464
2-ND
NLRP9p.S411F
Missense
SNP
0.441
2-ND
NLRX1-
-
-
-
1LossND
NMBR-
-
-
-
1LossND
NMD3-
-
-
-
3GainND
NME5-
-
-
-
1LossND
NME6-
-
-
-
3GainND
NME7-
-
-
-
3GainND
NME9-
-
-
-
3GainND
NMNAT2-
-
-
-
3GainND
NMNAT3-
-
-
-
3GainND
NMU-
-
-
-
1LossND
NMUR2-
-
-
-
1LossND
NNMT-
-
-
-
1LossND
NOA1-
-
-
-
1LossND
NOB1-
-
-
-
1LossND
NOBOX-
-
-
-
3GainND
NOC4L-
-
-
-
1LossND
NOCT-
-
-
-
1LossND
NOD2-
-
-
-
1LossND
NOL12-
-
-
-
3GainND
NOL3-
-
-
-
1LossND
NOM1-
-
-
-
3GainND
NOP16-
-
-
-
1LossND
NOS1AP-
-
-
-
3GainND
NOS2p.P4L
Missense
SNP
0.479
2-ND
NOS3-
-
-
-
3GainND
NOTCH1p.P362S
Missense
SNP
0.444
2-ND
NOTCH2NLA-
-
-
-
3GainND
NOX3-
-
-
-
1LossND
NOX4-
-
-
-
1LossND
NPAP1p.P423L
Missense
SNP
0.868
1LossND
NPAS4-
-
-
-
1LossND
NPAT-
-
-
-
1LossND
NPFFR2-
-
-
-
1LossND
NPHP3-
-
-
-
3GainND
NPHP3-ACAD11-
-
-
-
3GainND
NPHS2-
-
-
-
3GainND
NPIPB15-
-
-
-
1LossND
NPL-
-
-
-
3GainND
NPLOC4p.S546F
Missense
SNP
0.536
2-ND
NPM1-
-
-
-
1LossND
NPNT-
-
-
-
1LossND
NPR1-
-
-
-
3GainND
NPRL2-
-
-
-
3GainND
NPY1R-
-
-
-
1LossND
NPY2R-
-
-
-
1LossND
NPY5R-
-
-
-
1LossND
NQO1-
-
-
-
1LossND
NR1D2-
-
-
-
3GainND
NR1H4p.P11S
Missense
SNP
0.466
2-ND
NR1I2-
-
-
-
3GainND
NR1I3-
-
-
-
3GainND
NR2C2-
-
-
-
3GainND
NR2E1-
-
-
-
1LossND
NR3C1-
-
-
-
1LossND
NR3C2-
-
-
-
1LossND
NR5A2-
-
-
-
3GainND
NRAS-
-
-
-
1LossND
NRDCp.G298R
Missense
SNP
0.509
2-ND
NREP-
-
-
-
1LossND
NRF1-
-
-
-
3GainND
NRG1p.K80E
Missense
SNP
0.490
2-ND
NRG2-
-
-
-
1LossND
NRGN-
-
-
-
1LossND
NRKp.G1030E
Missense
SNP
1.000
NDNDND
NRN1L-
-
-
-
1LossND
NRROS-
-
-
-
3GainND
NRXN2-
-
-
-
1LossND
NRXN3p.L415H
Missense
SNP
0.430
2-ND
NSD1-
-
-
-
1LossND
NSG2-
-
-
-
1LossND
NSL1-
-
-
-
3GainND
NSMAFp.D355N
Missense
SNP
0.497
2-ND
NSUN3-
-
-
-
3GainND
NT5DC1-
-
-
-
1LossND
NT5DC2-
-
-
-
3GainND
NT5DC4p.G86E
Missense
SNP
0.477
2-ND
NTM-
-
-
-
1LossND
NTNG1-
-
-
-
1LossND
NTPCR-
-
-
-
3GainND
NTRK1-
-
-
-
3GainND
NUAK2-
-
-
-
3GainND
NUB1-
-
-
-
3GainND
NUCB2-
-
-
-
3GainND
NUCKS1-
-
-
-
3GainND
NUDCD2-
-
-
-
1LossND
NUDT1-
-
-
-
3GainND
NUDT16-
-
-
-
3GainND
NUDT17-
-
-
-
3GainND
NUDT21-
-
-
-
1LossND
NUDT22-
-
-
-
1LossND
NUDT4B-
-
-
-
3GainND
NUDT6-
-
-
-
1LossND
NUDT7-
-
-
-
1LossND
NUDT8-
-
-
-
1LossND
NUDT9-
-
-
-
1LossND
NUF2-
-
-
-
3GainND
NUMA1p.E653Q
Missense
DNP
1.000
1LossND
NUP133-
-
-
-
3GainND
NUP188p.S831F
Missense
SNP
0.354
2-ND
NUP205-
-
-
-
3GainND
NUP210-
-
-
-
3GainND
NUP210L-
-
-
-
3GainND
NUP43-
-
-
-
1LossND
NUP54-
-
-
-
1LossND
NUP58-
-
-
-
1LossND
NUP93-
-
-
-
1LossND
NUP98-
-
-
-
1LossND
NUS1-
-
-
-
1LossND
NUTF2-
-
-
-
1LossND
NVL-
-
-
-
3GainND
NXF1-
-
-
-
1LossND
NXPE1-
-
-
-
1LossND
NXPE2-
-
-
-
1LossND
NXPE3-
-
-
-
3GainND
NXPE4-
-
-
-
1LossND
NXPH1-
-
-
-
3GainND
OAF-
-
-
-
1LossND
OAZ3-
-
-
-
3GainND
OBFC1p.L351Q
Missense
SNP
0.505
NDNDND
OBSCN-
-
-
-
3GainND
OCLM-
-
-
-
3GainND
OCM-
-
-
-
3GainND
ODAM-
-
-
-
1LossND
ODAPH-
-
-
-
1LossND
ODF2L-
-
-
-
1LossND
ODF3-
-
-
-
1LossND
ODR4-
-
-
-
3GainND
OGFOD1-
-
-
-
1LossND
OGG1-
-
-
-
3GainND
OLFM3-
-
-
-
1LossND
OLFML2B-
-
-
-
3GainND
OLFML3-
-
-
-
1LossND
OLIG3-
-
-
-
1LossND
OMP-
-
-
-
1LossND
ONECUT1-
-
-
-
1LossND
OOSP1-
-
-
-
1LossND
OOSP2-
-
-
-
1LossND
OPA1-
-
-
-
3GainND
OPCML-
-
-
-
1LossND
OPHN1p.E733K
Missense
SNP
0.983
NDNDND
OPN1SW-
-
-
-
3GainND
OPN3-
-
-
-
3GainND
OPRM1-
-
-
-
1LossND
OPRPN-
-
-
-
1LossND
OPTC-
-
-
-
3GainND
OR10A2-
-
-
-
1LossND
OR10A4-
-
-
-
1LossND
OR10A5-
-
-
-
1LossND
OR10AG1-
-
-
-
1LossND
OR10D3-
-
-
-
1LossND
OR10G2p.G2E
Missense
SNP
0.531
2-ND
OR10G4-
-
-
-
1LossND
OR10G7-
-
-
-
1LossND
OR10G8-
-
-
-
1LossND
OR10G9-
-
-
-
1LossND
OR10J1-
-
-
-
3GainND
OR10J3-
-
-
-
3GainND
OR10J5-
-
-
-
3GainND
OR10K1-
-
-
-
3GainND
OR10K2-
-
-
-
3GainND
OR10Q1-
-
-
-
1LossND
OR10R2-
-
-
-
3GainND
OR10S1-
-
-
-
1LossND
OR10T2-
-
-
-
3GainND
OR10V1-
-
-
-
1LossND
OR10W1-
-
-
-
1LossND
OR10X1-
-
-
-
3GainND
OR10Z1-
-
-
-
3GainND
OR11L1-
-
-
-
3GainND
OR13F1p.R307K
Missense
SNP
0.479
2-ND
OR13G1-
-
-
-
3GainND
OR14A16-
-
-
-
3GainND
OR14A2-
-
-
-
3GainND
OR14C36-
-
-
-
3GainND
OR14I1-
-
-
-
3GainND
OR14K1-
-
-
-
3GainND
OR1C1-
-
-
-
3GainND
OR1L3p.R271Q
Missense
SNP
0.564
2-ND
OR1N1p.S91F
Missense
SNP
0.481
2-ND
OR1S1-
-
-
-
1LossND
OR1S2-
-
-
-
1LossND
OR2A1-
-
-
-
3GainND
OR2A12-
-
-
-
3GainND
OR2A14-
-
-
-
3GainND
OR2A2-
-
-
-
3GainND
OR2A25-
-
-
-
3GainND
OR2A4-
-
-
-
1LossND
OR2A42-
-
-
-
3GainND
OR2A5-
-
-
-
3GainND
OR2A7-
-
-
-
3GainND
OR2AG1-
-
-
-
1LossND
OR2AG2-
-
-
-
1LossND
OR2AJ1-
-
-
-
3GainND
OR2AK2-
-
-
-
3GainND
OR2AT4-
-
-
-
1LossND
OR2B11-
-
-
-
3GainND
OR2C3-
-
-
-
3GainND
OR2D2-
-
-
-
1LossND
OR2D3-
-
-
-
1LossND
OR2F1-
-
-
-
3GainND
OR2F2-
-
-
-
3GainND
OR2G2-
-
-
-
3GainND
OR2G3-
-
-
-
3GainND
OR2G6-
-
-
-
3GainND
OR2L13-
-
-
-
3GainND
OR2L2-
-
-
-
3GainND
OR2L3-
-
-
-
3GainND
OR2L5-
-
-
-
3GainND
OR2L8-
-
-
-
3GainND
OR2M2-
-
-
-
3GainND
OR2M3-
-
-
-
3GainND
OR2M4-
-
-
-
3GainND
OR2M5-
-
-
-
3GainND
OR2M7-
-
-
-
3GainND
OR2T1-
-
-
-
3GainND
OR2T10-
-
-
-
3GainND
OR2T11-
-
-
-
3GainND
OR2T12-
-
-
-
3GainND
OR2T2-
-
-
-
3GainND
OR2T27-
-
-
-
3GainND
OR2T29-
-
-
-
3GainND
OR2T3-
-
-
-
3GainND
OR2T33-
-
-
-
3GainND
OR2T34-
-
-
-
3GainND
OR2T35-
-
-
-
3GainND
OR2T4-
-
-
-
3GainND
OR2T5-
-
-
-
3GainND
OR2T6-
-
-
-
3GainND
OR2T8-
-
-
-
3GainND
OR2V1-
-
-
-
1LossND
OR2V2-
-
-
-
1LossND
OR2W3p.S67F
Missense
SNP
0.609
3GainND
OR2Y1-
-
-
-
1LossND
OR4A15-
-
-
-
1LossND
OR4A16-
-
-
-
1LossND
OR4A47p.S76F
Missense
SNP
0.495
2-ND
OR4A5-
-
-
-
1LossND
OR4C11-
-
-
-
1LossND
OR4C15-
-
-
-
1LossND
OR4C16-
-
-
-
1LossND
OR4C3p.S181L
Missense
SNP
0.482
2-ND
OR4C46p.P259L
Missense
SNP
1.000
1LossND
OR4C6-
-
-
-
1LossND
OR4D10-
-
-
-
1LossND
OR4D11-
-
-
-
1LossND
OR4D5-
-
-
-
1LossND
OR4D6-
-
-
-
1LossND
OR4D9-
-
-
-
1LossND
OR4P4-
-
-
-
1LossND
OR4S2-
-
-
-
1LossND
OR51A2-
-
-
-
1LossND
OR51A4-
-
-
-
1LossND
OR51A7-
-
-
-
1LossND
OR51B2-
-
-
-
1LossND
OR51B4-
-
-
-
1LossND
OR51B5-
-
-
-
1LossND
OR51B6-
-
-
-
1LossND
OR51C1P-
-
-
-
1LossND
OR51D1-
-
-
-
1LossND
OR51E1p.V52L
Missense
SNP
0.913
1LossND
OR51E2-
-
-
-
1LossND
OR51F1-
-
-
-
1LossND
OR51F2-
-
-
-
1LossND
OR51G1-
-
-
-
1LossND
OR51G2-
-
-
-
1LossND
OR51I1-
-
-
-
1LossND
OR51I2-
-
-
-
1LossND
OR51L1-
-
-
-
1LossND
OR51M1-
-
-
-
1LossND
OR51Q1-
-
-
-
1LossND
OR51S1-
-
-
-
1LossND
OR51T1-
-
-
-
1LossND
OR51V1-
-
-
-
1LossND
OR52A1-
-
-
-
1LossND
OR52A5-
-
-
-
1LossND
OR52B2-
-
-
-
1LossND
OR52B4-
-
-
-
1LossND
OR52B6-
-
-
-
1LossND
OR52D1p.P288L
Missense
SNP
0.962
1LossND
OR52E2-
-
-
-
1LossND
OR52E4-
-
-
-
1LossND
OR52E5-
-
-
-
1LossND
OR52E6-
-
-
-
1LossND
OR52E8-
-
-
-
1LossND
OR52H1-
-
-
-
1LossND
OR52I1-
-
-
-
1LossND
OR52I2-
-
-
-
1LossND
OR52J3-
-
-
-
1LossND
OR52K1-
-
-
-
1LossND
OR52K2-
-
-
-
1LossND
OR52L1-
-
-
-
1LossND
OR52M1-
-
-
-
1LossND
OR52N1-
-
-
-
1LossND
OR52N2-
-
-
-
1LossND
OR52N4-
-
-
-
1LossND
OR52N5-
-
-
-
1LossND
OR52R1-
-
-
-
1LossND
OR52W1-
-
-
-
1LossND
OR56A1-
-
-
-
1LossND
OR56A3-
-
-
-
1LossND
OR56A4-
-
-
-
1LossND
OR56A5-
-
-
-
1LossND
OR56B1-
-
-
-
1LossND
OR56B4-
-
-
-
1LossND
OR5A1-
-
-
-
1LossND
OR5A2-
-
-
-
1LossND
OR5AC2-
-
-
-
3GainND
OR5AK2-
-
-
-
1LossND
OR5AN1-
-
-
-
1LossND
OR5AP2-
-
-
-
1LossND
OR5AR1-
-
-
-
1LossND
OR5AS1-
-
-
-
1LossND
OR5B12-
-
-
-
1LossND
OR5B17-
-
-
-
1LossND
OR5B2-
-
-
-
1LossND
OR5B21-
-
-
-
1LossND
OR5B3-
-
-
-
1LossND
OR5D13-
-
-
-
1LossND
OR5D14-
-
-
-
1LossND
OR5D16-
-
-
-
1LossND
OR5D18-
-
-
-
1LossND
OR5F1-
-
-
-
1LossND
OR5H1p.Y251*
Nonsense
SNP
0.264
3GainND
OR5H14-
-
-
-
3GainND
OR5H15-
-
-
-
3GainND
OR5H2-
-
-
-
3GainND
OR5H6-
-
-
-
3GainND
OR5I1-
-
-
-
1LossND
OR5J2-
-
-
-
1LossND
OR5K1-
-
-
-
3GainND
OR5K2-
-
-
-
3GainND
OR5K3-
-
-
-
3GainND
OR5K4-
-
-
-
3GainND
OR5L1-
-
-
-
1LossND
OR5L2-
-
-
-
1LossND
OR5M1-
-
-
-
1LossND
OR5M10-
-
-
-
1LossND
OR5M11-
-
-
-
1LossND
OR5M3-
-
-
-
1LossND
OR5M8-
-
-
-
1LossND
OR5M9-
-
-
-
1LossND
OR5R1-
-
-
-
1LossND
OR5T1-
-
-
-
1LossND
OR5T2-
-
-
-
1LossND
OR5T3-
-
-
-
1LossND
OR5W2-
-
-
-
1LossND
OR6A2-
-
-
-
1LossND
OR6B1-
-
-
-
3GainND
OR6C76p.L61F
Missense
SNP
0.469
2-ND
OR6F1-
-
-
-
3GainND
OR6K2-
-
-
-
3GainND
OR6K3-
-
-
-
3GainND
OR6K6-
-
-
-
3GainND
OR6M1-
-
-
-
1LossND
OR6N1-
-
-
-
3GainND
OR6N2-
-
-
-
3GainND
OR6P1-
-
-
-
3GainND
OR6Q1-
-
-
-
1LossND
OR6T1-
-
-
-
1LossND
OR6V1-
-
-
-
3GainND
OR6X1-
-
-
-
1LossND
OR6Y1-
-
-
-
3GainND
OR8A1-
-
-
-
1LossND
OR8B12-
-
-
-
1LossND
OR8B2-
-
-
-
1LossND
OR8B3-
-
-
-
1LossND
OR8B4-
-
-
-
1LossND
OR8B8-
-
-
-
1LossND
OR8D1-
-
-
-
1LossND
OR8D2-
-
-
-
1LossND
OR8D4-
-
-
-
1LossND
OR8G1-
-
-
-
1LossND
OR8G5-
-
-
-
1LossND
OR8H1-
-
-
-
1LossND
OR8H2-
-
-
-
1LossND
OR8H3-
-
-
-
1LossND
OR8I2-
-
-
-
1LossND
OR8J1-
-
-
-
1LossND
OR8J3-
-
-
-
1LossND
OR8K1p.L165P
Missense
SNP
1.000
1LossND
OR8K3-
-
-
-
1LossND
OR8K5-
-
-
-
1LossND
OR8U1-
-
-
-
1LossND
OR9A2-
-
-
-
3GainND
OR9A4p.L65F
Missense
SNP
0.701
3GainND
OR9G1-
-
-
-
1LossND
OR9G4-
-
-
-
1LossND
OR9I1-
-
-
-
1LossND
OR9Q1-
-
-
-
1LossND
OR9Q2-
-
-
-
1LossND
ORC6-
-
-
-
1LossND
OSBP-
-
-
-
1LossND
OSBPL10-
-
-
-
3GainND
OSBPL11-
-
-
-
3GainND
OSBPL5-
-
-
-
1LossND
OSER1-
-
-
-
1LossND
OSGIN1-
-
-
-
1LossND
OSTC-
-
-
-
1LossND
OSTM1-
-
-
-
1LossND
OSTN-
-
-
-
3GainND
OTOG-
-
-
-
3GainND
OTOL1-
-
-
-
3GainND
OTOP2p.M373I
Missense
SNP
0.539
2-ND
OTORp.D54N
Missense
SNP
0.444
2-ND
OTUB1-
-
-
-
1LossND
OTUD4-
-
-
-
1LossND
OTUD7B-
-
-
-
3GainND
OVGP1-
-
-
-
1LossND
OVOL1-
-
-
-
1LossND
OXGR1-
-
-
-
1LossND
OXNAD1-
-
-
-
3GainND
OXSM-
-
-
-
3GainND
OXSR1-
-
-
-
3GainND
OXTR-
-
-
-
3GainND
P2RX2-
-
-
-
1LossND
P2RX3-
-
-
-
1LossND
P2RY1-
-
-
-
3GainND
P2RY12-
-
-
-
3GainND
P2RY13-
-
-
-
3GainND
P2RY14-
-
-
-
3GainND
P3H2p.G660R
Missense
SNP
0.560
3GainND
P4HA2-
-
-
-
1LossND
P4HA3-
-
-
-
1LossND
P4HTM-
-
-
-
3GainND
PABPC3-
-
-
-
1LossND
PABPC4L-
-
-
-
1LossND
PABPN1L-
-
-
-
1LossND
PACRG-
-
-
-
1LossND
PACS1-
-
-
-
1LossND
PAFAH1B2-
-
-
-
1LossND
PAICS-
-
-
-
1LossND
PAIP2-
-
-
-
1LossND
PAK1-
-
-
-
1LossND
PAK2-
-
-
-
3GainND
PAK5p.P108L
Missense
SNP
0.573
2-ND
PAK6p.G340S
Missense
SNP
0.487
2-ND
PALLD-
-
-
-
1LossND
PALMD-
-
-
-
1LossND
PAMR1-
-
-
-
3GainND
PAN3-
-
-
-
1LossND
PANK3-
-
-
-
1LossND
PANX1-
-
-
-
1LossND
PANX3-
-
-
-
1LossND
PAPOLB-
-
-
-
3GainND
PAPPA2-
-
-
-
3GainND
PAPSS1-
-
-
-
1LossND
PAQR3-
-
-
-
1LossND
PAQR6-
-
-
-
3GainND
PAQR9-
-
-
-
3GainND
PARD6A-
-
-
-
1LossND
PARL-
-
-
-
3GainND
PARM1-
-
-
-
1LossND
PARP1-
-
-
-
3GainND
PARP12-
-
-
-
3GainND
PARP14-
-
-
-
3GainND
PARP15-
-
-
-
3GainND
PARP3-
-
-
-
3GainND
PARP4-
-
-
-
1LossND
PARP9-
-
-
-
3GainND
PATE1-
-
-
-
1LossND
PATE2-
-
-
-
1LossND
PATE3-
-
-
-
1LossND
PATE4-
-
-
-
1LossND
PATL1-
-
-
-
1LossND
PATL2-
-
-
-
1LossND
PAX2p.G155E
Missense
SNP
0.464
2-ND
PAX4-
-
-
-
3GainND
PAX6-
-
-
-
3GainND
PAXIP1-
-
-
-
3GainND
PBOV1-
-
-
-
1LossND
PBRM1-
-
-
-
3GainND
PBX1-
-
-
-
3GainND
PBXIP1-
-
-
-
3GainND
PC-
-
-
-
1LossND
PCBD2-
-
-
-
1LossND
PCBP3p.A108L
Missense
DNP
0.481
2-ND
PCBP4-
-
-
-
3GainND
PCCA-
-
-
-
1LossND
PCCB-
-
-
-
3GainND
PCDH1-
-
-
-
1LossND
PCDH10-
-
-
-
1LossND
PCDH12-
-
-
-
1LossND
PCDH17-
-
-
-
3GainND
PCDH18-
-
-
-
1LossND
PCDH7-
-
-
-
3GainND
PCDH9p.P230S
Missense
SNP
0.529
3GainND
PCDHA1-
-
-
-
1LossND
PCDHA10-
-
-
-
0DelND
PCDHA11-
-
-
-
1LossND
PCDHA12-
-
-
-
1LossND
PCDHA13-
-
-
-
1LossND
PCDHA2-
-
-
-
1LossND
PCDHA3-
-
-
-
1LossND
PCDHA4-
-
-
-
1LossND
PCDHA5-
-
-
-
1LossND
PCDHA6-
-
-
-
1LossND
PCDHA7-
-
-
-
1LossND
PCDHA8-
-
-
-
1LossND
PCDHA9-
-
-
-
0DelND
PCDHAC1-
-
-
-
1LossND
PCDHAC2-
-
-
-
1LossND
PCDHB1-
-
-
-
1LossND
PCDHB10-
-
-
-
1LossND
PCDHB11-
-
-
-
1LossND
PCDHB12-
-
-
-
1LossND
PCDHB13-
-
-
-
1LossND
PCDHB14-
-
-
-
1LossND
PCDHB15-
-
-
-
1LossND
PCDHB16-
-
-
-
1LossND
PCDHB2-
-
-
-
1LossND
PCDHB3-
-
-
-
1LossND
PCDHB4-
-
-
-
1LossND
PCDHB5-
-
-
-
1LossND
PCDHB6-
-
-
-
1LossND
PCDHB7-
-
-
-
1LossND
PCDHB8-
-
-
-
1LossND
PCDHB9p.Y309*
Nonsense
SNP
1.000
1LossND
PCDHGA1-
-
-
-
1LossND
PCDHGA10-
-
-
-
1LossND
PCDHGA11-
-
-
-
1LossND
PCDHGA12-
-
-
-
1LossND
PCDHGA2-
-
-
-
1LossND
PCDHGA3-
-
-
-
1LossND
PCDHGA4-
-
-
-
1LossND
PCDHGA5-
-
-
-
1LossND
PCDHGA6-
-
-
-
1LossND
PCDHGA7-
-
-
-
1LossND
PCDHGA8-
-
-
-
1LossND
PCDHGA9-
-
-
-
1LossND
PCDHGB1-
-
-
-
1LossND
PCDHGB2p.P153S
Missense
SNP
0.989
1LossND
PCDHGB3-
-
-
-
1LossND
PCDHGB4-
-
-
-
1LossND
PCDHGB5-
-
-
-
1LossND
PCDHGB6-
-
-
-
1LossND
PCDHGB7-
-
-
-
1LossND
PCDHGC3-
-
-
-
1LossND
PCDHGC4-
-
-
-
1LossND
PCDHGC5-
-
-
-
1LossND
PCF11p.L1111I
Missense
SNP
0.994
1LossND
PCID2-
-
-
-
1LossND
PCLOp.G1750E
p.G396R
Missense
Missense
SNP
SNP
0.613
0.487
2-ND
PCMT1-
-
-
-
1LossND
PCNP-
-
-
-
3GainND
PCNX1p.P2118S
Missense
SNP
0.531
2-ND
PCNX2-
-
-
-
3GainND
PCNX3-
-
-
-
1LossND
PCOLCE2-
-
-
-
3GainND
PCP4L1-
-
-
-
3GainND
PCSK5p.E1310K
Missense
SNP
0.456
2-ND
PCSK7-
-
-
-
1LossND
PCYOX1L-
-
-
-
1LossND
PCYT1A-
-
-
-
3GainND
PDC-
-
-
-
3GainND
PDCD10-
-
-
-
3GainND
PDCD1LG2-
-
-
-
1LossND
PDCD2-
-
-
-
1LossND
PDCD6IP-
-
-
-
3GainND
PDCL2-
-
-
-
1LossND
PDE10A-
-
-
-
1LossND
PDE11Ap.A590T
Missense
SNP
0.518
2-ND
PDE12-
-
-
-
3GainND
PDE2A-
-
-
-
1LossND
PDE3B-
-
-
-
3GainND
PDE4Dp.D636N
Missense
SNP
0.438
2-ND
PDE4DIPp.R430*
Nonsense
SNP
0.671
3GainND
PDE5A-
-
-
-
1LossND
PDE6A-
-
-
-
1LossND
PDE7B-
-
-
-
1LossND
PDF-
-
-
-
1LossND
PDGFA-
-
-
-
3GainND
PDGFC-
-
-
-
1LossND
PDGFRA-
-
-
-
1LossND
PDGFRB-
-
-
-
1LossND
PDHA2-
-
-
-
1LossND
PDHB-
-
-
-
3GainND
PDHX-
-
-
-
3GainND
PDIA3-
-
-
-
1LossND
PDIA4-
-
-
-
3GainND
PDIA5-
-
-
-
3GainND
PDLIM3-
-
-
-
1LossND
PDLIM4-
-
-
-
1LossND
PDLIM5-
-
-
-
1LossND
PDLIM7-
-
-
-
1LossND
PDP2-
-
-
-
1LossND
PDPR-
-
-
-
1LossND
PDS5B-
-
-
-
1LossND
PDSS2-
-
-
-
1LossND
PDX1-
-
-
-
1LossND
PDXP-
-
-
-
3GainND
PDZD3-
-
-
-
1LossND
PDZK1-
-
-
-
3GainND
PDZRN3-
-
-
-
3GainND
PEA15-
-
-
-
3GainND
PEAR1-
-
-
-
3GainND
PELI3-
-
-
-
1LossND
PELP1p.Q1101*
Nonsense
SNP
0.469
2-ND
PENKp.R209Q
Missense
SNP
0.491
2-ND
PERP-
-
-
-
1LossND
PEX11B-
-
-
-
3GainND
PEX19-
-
-
-
3GainND
PEX3-
-
-
-
1LossND
PEX5L-
-
-
-
3GainND
PEX7-
-
-
-
1LossND
PF4-
-
-
-
1LossND
PF4V1-
-
-
-
1LossND
PFDN1-
-
-
-
1LossND
PFDN2-
-
-
-
3GainND
PFKFB2-
-
-
-
3GainND
PFKFB4-
-
-
-
3GainND
PFN2-
-
-
-
3GainND
PFN3-
-
-
-
1LossND
PGA3-
-
-
-
1LossND
PGA4-
-
-
-
1LossND
PGA5-
-
-
-
1LossND
PGAM5-
-
-
-
1LossND
PGAP2-
-
-
-
1LossND
PGBD2-
-
-
-
3GainND
PGBD5-
-
-
-
3GainND
PGGHG-
-
-
-
1LossND
PGGT1B-
-
-
-
1LossND
PGLYRP3-
-
-
-
3GainND
PGLYRP4-
-
-
-
3GainND
PGM2L1-
-
-
-
1LossND
PGRMC2-
-
-
-
1LossND
PHACTR2-
-
-
-
1LossND
PHAX-
-
-
-
1LossND
PHC2-
-
-
-
4GainND
PHC3-
-
-
-
3GainND
PHF10-
-
-
-
1LossND
PHF14-
-
-
-
5AmpND
PHF7-
-
-
-
3GainND
PHKA1p.G421R
Missense
SNP
1.000
NDNDND
PHKA2p.E685K
Missense
SNP
1.000
NDNDND
PHKB-
-
-
-
1LossND
PHLDA2-
-
-
-
1LossND
PHLDA3-
-
-
-
3GainND
PHLDB1-
-
-
-
1LossND
PHLDB2-
-
-
-
3GainND
PHLPP2-
-
-
-
1LossND
PHOX2A-
-
-
-
1LossND
PHRF1-
-
-
-
1LossND
PHTF1-
-
-
-
1LossND
PHYKPL-
-
-
-
1LossND
PI4KB-
-
-
-
3GainND
PIAS3-
-
-
-
3GainND
PICALM-
-
-
-
1LossND
PIDD1-
-
-
-
1LossND
PIEZO1-
-
-
-
1LossND
PIFO-
-
-
-
1LossND
PIGB-
-
-
-
1LossND
PIGC-
-
-
-
3GainND
PIGK-
-
-
-
1LossND
PIGM-
-
-
-
3GainND
PIGR-
-
-
-
3GainND
PIGXp.G241R
Missense
SNP
0.597
3GainND
PIGY-
-
-
-
1LossND
PIGZ-
-
-
-
3GainND
PIH1D2-
-
-
-
1LossND
PIK3C2A-
-
-
-
3GainND
PIK3C2B-
-
-
-
3GainND
PIK3CA-
-
-
-
3GainND
PIK3CB-
-
-
-
3GainND
PIK3R4-
-
-
-
3GainND
PIK3R6p.G349E
Missense
SNP
0.352
2-ND
PIP-
-
-
-
3GainND
PIP5K1A-
-
-
-
3GainND
PITPNM1-
-
-
-
1LossND
PITX1-
-
-
-
1LossND
PITX2-
-
-
-
1LossND
PIWIL4-
-
-
-
1LossND
PJA2-
-
-
-
1LossND
PKD1L2-
-
-
-
1LossND
PKD1L3-
-
-
-
1LossND
PKD2-
-
-
-
1LossND
PKD2L2-
-
-
-
1LossND
PKHD1p.W2631*
p.G919N
Nonsense
Missense
SNP
DNP
0.475
0.458
2-ND
PKHD1L1p.T691I
Missense
SNP
0.425
2-ND
PKIB-
-
-
-
1LossND
PKLR-
-
-
-
3GainND
PKN2-
-
-
-
1LossND
PKNOX2-
-
-
-
1LossND
PKP1-
-
-
-
3GainND
PKP3-
-
-
-
1LossND
PLA1A-
-
-
-
3GainND
PLA2G12A-
-
-
-
1LossND
PLA2G15-
-
-
-
1LossND
PLA2G16-
-
-
-
1LossND
PLA2G4A-
-
-
-
5AmpND
PLA2G4Dp.E277K
Missense
SNP
0.500
2-ND
PLA2G4F-
-
-
-
1LossND
PLA2R1p.H329Y
Missense
SNP
0.496
2-ND
PLAC8-
-
-
-
1LossND
PLAC8L1-
-
-
-
1LossND
PLAGL1-
-
-
-
1LossND
PLCB3-
-
-
-
1LossND
PLCD1-
-
-
-
3GainND
PLCE1p.E88K
Missense
SNP
0.420
2-ND
PLCG2-
-
-
-
1LossND
PLCH1-
-
-
-
3GainND
PLCL2-
-
-
-
3GainND
PLCXD2-
-
-
-
3GainND
PLD1-
-
-
-
3GainND
PLD2p.S734F
Missense
SNP
0.472
2-ND
PLD5-
-
-
-
3GainND
PLECp.T3060I
Missense
SNP
0.443
2-ND
PLEKHA6p.D531N
Missense
SNP
0.639
3GainND
PLEKHA7-
-
-
-
3GainND
PLEKHA8p.L382F
Missense
SNP
0.490
2-ND
PLEKHB1-
-
-
-
1LossND
PLEKHG1-
-
-
-
1LossND
PLEKHG4p.P765Q
Missense
DNP
0.993
1LossND
PLEKHO1-
-
-
-
3GainND
PLET1-
-
-
-
1LossND
PLG-
-
-
-
1LossND
PLGRKT-
-
-
-
1LossND
PLIN2-
-
-
-
1LossND
PLK4-
-
-
-
1LossND
PLLP-
-
-
-
1LossND
PLN-
-
-
-
1LossND
PLOD2-
-
-
-
3GainND
PLPP6-
-
-
-
1LossND
PLPPR4-
-
-
-
1LossND
PLPPR5-
-
-
-
1LossND
PLRG1-
-
-
-
1LossND
PLS1p.R399K
Missense
SNP
0.542
3GainND
PLSCR1-
-
-
-
3GainND
PLSCR2-
-
-
-
3GainND
PLSCR4-
-
-
-
3GainND
PLSCR5p.T208I
Missense
SNP
0.734
3GainND
PLXNA1-
-
-
-
3GainND
PLXNA2-
-
-
-
3GainND
PLXNA4p.E1220K
Missense
SNP
0.623
3GainND
PLXNB1-
-
-
-
3GainND
PLXNB2p.P363S
Missense
SNP
0.356
2-ND
PLXND1-
-
-
-
3GainND
PM20D1-
-
-
-
3GainND
PMF1-
-
-
-
3GainND
PMF1-BGLAP-
-
-
-
3GainND
PMFBP1-
-
-
-
1LossND
PMS2-
-
-
-
3GainND
PMVK-
-
-
-
3GainND
PNISR-
-
-
-
1LossND
PNLDC1-
-
-
-
1LossND
PNPLA2-
-
-
-
1LossND
PNPLA8-
-
-
-
3GainND
POC1Ap.P335S
Missense
DNP
0.278
3GainND
PODXL-
-
-
-
3GainND
PODXL2-
-
-
-
3GainND
POGK-
-
-
-
3GainND
POGLUT1-
-
-
-
3GainND
POGZ-
-
-
-
3GainND
POLA2-
-
-
-
1LossND
POLD3-
-
-
-
1LossND
POLD4-
-
-
-
1LossND
POLEp.G6R
Missense
SNP
0.917
1LossND
POLQ-
-
-
-
3GainND
POLR1D-
-
-
-
1LossND
POLR2B-
-
-
-
1LossND
POLR2C-
-
-
-
1LossND
POLR2G-
-
-
-
1LossND
POLR2H-
-
-
-
3GainND
POLR2L-
-
-
-
1LossND
POLR2M-
-
-
-
1LossND
POLR3C-
-
-
-
3GainND
POLR3GL-
-
-
-
3GainND
POMGNT2p.E531K
Missense
SNP
0.678
3GainND
POMP-
-
-
-
1LossND
POPDC2-
-
-
-
3GainND
POPDC3-
-
-
-
1LossND
POSTN-
-
-
-
1LossND
POT1-
-
-
-
3GainND
POTEHp.T462I
Missense
SNP
0.121
NDNDND
POU1F1-
-
-
-
3GainND
POU2AF1-
-
-
-
1LossND
POU2F1-
-
-
-
3GainND
POU2F3-
-
-
-
1LossND
POU3F2-
-
-
-
1LossND
POU4F2-
-
-
-
1LossND
POU4F3-
-
-
-
1LossND
PP2D1-
-
-
-
3GainND
PPA2-
-
-
-
1LossND
PPARG-
-
-
-
3GainND
PPARGC1B-
-
-
-
1LossND
PPAT-
-
-
-
1LossND
PPBP-
-
-
-
1LossND
PPEF2-
-
-
-
1LossND
PPFIA1-
-
-
-
1LossND
PPFIA4-
-
-
-
3GainND
PPIC-
-
-
-
1LossND
PPID-
-
-
-
1LossND
PPIL4-
-
-
-
1LossND
PPIL6-
-
-
-
1LossND
PPIP5K1-
-
-
-
1LossND
PPM1Dp.P426L
Missense
SNP
0.556
2-ND
PPM1J-
-
-
-
1LossND
PPM1K-
-
-
-
1LossND
PPM1L-
-
-
-
3GainND
PPM1M-
-
-
-
3GainND
PPOX-
-
-
-
3GainND
PPP1CA-
-
-
-
1LossND
PPP1R12B-
-
-
-
3GainND
PPP1R14B-
-
-
-
1LossND
PPP1R14C-
-
-
-
1LossND
PPP1R15B-
-
-
-
3GainND
PPP1R2-
-
-
-
3GainND
PPP1R2B-
-
-
-
1LossND
PPP1R32-
-
-
-
1LossND
PPP1R3Ap.V205A
Missense
SNP
0.714
3GainND
PPP2CA-
-
-
-
1LossND
PPP2R1B-
-
-
-
1LossND
PPP2R2B-
-
-
-
1LossND
PPP2R3A-
-
-
-
3GainND
PPP2R5A-
-
-
-
3GainND
PPP2R5B-
-
-
-
1LossND
PPP3CA-
-
-
-
1LossND
PPP4R2-
-
-
-
3GainND
PPP6R3p.P66F
Missense
DNP
0.985
1LossND
PQLC2L-
-
-
-
3GainND
PRAMEF20p.E21K
Missense
SNP
0.596
2-ND
PRB3-
-
-
-
1LossND
PRCC-
-
-
-
3GainND
PRCP-
-
-
-
1LossND
PRDM1-
-
-
-
1LossND
PRDM10-
-
-
-
1LossND
PRDM13-
-
-
-
1LossND
PRDM5-
-
-
-
1LossND
PRDM6-
-
-
-
1LossND
PRDM7-
-
-
-
1LossND
PRDM8-
-
-
-
1LossND
PRDM9-
-
-
-
3GainND
PRDX5-
-
-
-
1LossND
PRDX6-
-
-
-
3GainND
PRELID1-
-
-
-
1LossND
PRELID2-
-
-
-
1LossND
PRELP-
-
-
-
3GainND
PREP-
-
-
-
1LossND
PRG2-
-
-
-
1LossND
PRG3-
-
-
-
1LossND
PRG4-
-
-
-
3GainND
PRH1-
-
-
-
1LossND
PRH1-PRR4-
-
-
-
1LossND
PRH2-
-
-
-
1LossND
PRICKLE2-
-
-
-
3GainND
PRIMPOL-
-
-
-
1LossND
PRKAB2-
-
-
-
3GainND
PRKACB-
-
-
-
1LossND
PRKAG2-
-
-
-
3GainND
PRKAR1B-
-
-
-
3GainND
PRKAR2A-
-
-
-
3GainND
PRKCD-
-
-
-
3GainND
PRKCI-
-
-
-
3GainND
PRKD3p.P399S
Missense
SNP
0.472
2-ND
PRKG2-
-
-
-
1LossND
PRKN-
-
-
-
1LossND
PRMT3-
-
-
-
3GainND
PRMT6-
-
-
-
1LossND
PRMT7-
-
-
-
1LossND
PRMT9-
-
-
-
1LossND
PROB1-
-
-
-
1LossND
PROK1-
-
-
-
1LossND
PROK2-
-
-
-
3GainND
PROP1-
-
-
-
1LossND
PROS1-
-
-
-
3GainND
PROSER1p.P435F
Missense
DNP
0.521
2-ND
PROSER2p.S365F
Missense
DNP
0.464
2-ND
PROX1-
-
-
-
3GainND
PROZ-
-
-
-
1LossND
PRPF19-
-
-
-
1LossND
PRPF3-
-
-
-
3GainND
PRPF38B-
-
-
-
1LossND
PRR16-
-
-
-
1LossND
PRR18-
-
-
-
1LossND
PRR23A-
-
-
-
3GainND
PRR23B-
-
-
-
3GainND
PRR23C-
-
-
-
3GainND
PRR27-
-
-
-
1LossND
PRR33-
-
-
-
1LossND
PRR4-
-
-
-
1LossND
PRR5L-
-
-
-
3GainND
PRR7-
-
-
-
1LossND
PRR9-
-
-
-
3GainND
PRRC1-
-
-
-
1LossND
PRRC2C-
-
-
-
3GainND
PRRG4-
-
-
-
3GainND
PRRT3-
-
-
-
3GainND
PRRT4-
-
-
-
3GainND
PRRX1-
-
-
-
3GainND
PRSS1-
-
-
-
3GainND
PRSS12-
-
-
-
1LossND
PRSS2-
-
-
-
3GainND
PRSS23-
-
-
-
1LossND
PRSS37-
-
-
-
3GainND
PRSS38-
-
-
-
3GainND
PRSS42-
-
-
-
3GainND
PRSS45-
-
-
-
3GainND
PRSS48-
-
-
-
1LossND
PRSS50-
-
-
-
3GainND
PRSS54-
-
-
-
1LossND
PRSS58-
-
-
-
3GainND
PRTFDC1p.T148I
Missense
SNP
0.432
2-ND
PRTG-
-
-
-
1LossND
PRUNE1-
-
-
-
3GainND
PSD2-
-
-
-
1LossND
PSEN2-
-
-
-
3GainND
PSIP1-
-
-
-
1LossND
PSKH1-
-
-
-
1LossND
PSMA1-
-
-
-
3GainND
PSMA5-
-
-
-
1LossND
PSMB1-
-
-
-
1LossND
PSMB10-
-
-
-
1LossND
PSMB4-
-
-
-
3GainND
PSMC6p.S225R
Missense
SNP
0.525
2-ND
PSMD13-
-
-
-
1LossND
PSMD2-
-
-
-
3GainND
PSMD4-
-
-
-
3GainND
PSMD6-
-
-
-
3GainND
PSMD7-
-
-
-
1LossND
PSMG3-
-
-
-
3GainND
PSPC1-
-
-
-
1LossND
PSRC1-
-
-
-
1LossND
PSTPIP1p.R103Q
Missense
DNP
0.468
2-ND
PTBP2-
-
-
-
1LossND
PTDSS2-
-
-
-
1LossND
PTGDR2-
-
-
-
1LossND
PTGER3-
-
-
-
1LossND
PTGFR-
-
-
-
1LossND
PTGFRN-
-
-
-
1LossND
PTGS2-
-
-
-
3GainND
PTH-
-
-
-
3GainND
PTH1R-
-
-
-
3GainND
PTN-
-
-
-
3GainND
PTPN13-
-
-
-
1LossND
PTPN14-
-
-
-
3GainND
PTPN22-
-
-
-
1LossND
PTPN23-
-
-
-
3GainND
PTPN5-
-
-
-
3GainND
PTPN7-
-
-
-
3GainND
PTPRBp.E1677K
Missense
SNP
0.490
2-ND
PTPRC-
-
-
-
3GainND
PTPRCAP-
-
-
-
1LossND
PTPRD-
-
-
-
1LossND
PTPRG-
-
-
-
3GainND
PTPRK-
-
-
-
1LossND
PTPRN2-
-
-
-
3GainND
PTPROp.G614E
Missense
SNP
0.439
2-ND
PTPRZ1-
-
-
-
3GainND
PTS-
-
-
-
1LossND
PTTG1-
-
-
-
1LossND
PTX3-
-
-
-
3GainND
PUM3-
-
-
-
1LossND
PURA-
-
-
-
1LossND
PUS1-
-
-
-
1LossND
PUS3-
-
-
-
1LossND
PWWP2A-
-
-
-
1LossND
PXDNp.E362K
Missense
SNP
0.545
2-ND
PXK-
-
-
-
3GainND
PXMP2-
-
-
-
1LossND
PXYLP1-
-
-
-
3GainND
PYCR2-
-
-
-
3GainND
PYDC2-
-
-
-
3GainND
PYGM-
-
-
-
1LossND
PYGO1-
-
-
-
1LossND
PYGO2-
-
-
-
3GainND
PYHIN1-
-
-
-
3GainND
PYURF-
-
-
-
1LossND
QARSp.X40_splice
Splice_Site
SNP
0.724
3GainND
QKI-
-
-
-
1LossND
QRFPR-
-
-
-
1LossND
QRICH1-
-
-
-
3GainND
QRSL1-
-
-
-
1LossND
QSER1-
-
-
-
3GainND
QSOX1-
-
-
-
3GainND
QTRT2-
-
-
-
3GainND
RAB13-
-
-
-
3GainND
RAB19-
-
-
-
3GainND
RAB1B-
-
-
-
1LossND
RAB20-
-
-
-
1LossND
RAB24-
-
-
-
1LossND
RAB25-
-
-
-
3GainND
RAB27A-
-
-
-
1LossND
RAB29-
-
-
-
3GainND
RAB30-
-
-
-
1LossND
RAB32-
-
-
-
1LossND
RAB33B-
-
-
-
1LossND
RAB38-
-
-
-
1LossND
RAB39A-
-
-
-
1LossND
RAB3Cp.G166R
Missense
SNP
0.561
2-ND
RAB3GAP2-
-
-
-
3GainND
RAB3IL1-
-
-
-
1LossND
RAB43-
-
-
-
3GainND
RAB4A-
-
-
-
3GainND
RAB5A-
-
-
-
3GainND
RAB6A-
-
-
-
1LossND
RAB6B-
-
-
-
3GainND
RAB7A-
-
-
-
3GainND
RABGAP1L-
-
-
-
3GainND
RABGGTB-
-
-
-
1LossND
RABIF-
-
-
-
3GainND
RABL3-
-
-
-
3GainND
RAC1-
-
-
-
3GainND
RACK1-
-
-
-
1LossND
RAD18-
-
-
-
3GainND
RAD50-
-
-
-
1LossND
RAD54L2-
-
-
-
3GainND
RAD9A-
-
-
-
1LossND
RADIL-
-
-
-
3GainND
RAET1E-
-
-
-
1LossND
RAET1G-
-
-
-
1LossND
RAET1L-
-
-
-
1LossND
RAF1-
-
-
-
3GainND
RAG1-
-
-
-
3GainND
RAG2-
-
-
-
3GainND
RALGPS2-
-
-
-
3GainND
RALYLp.K205N
Missense
SNP
0.536
2-ND
RAMACL-
-
-
-
1LossND
RANBP10-
-
-
-
1LossND
RANBP17-
-
-
-
1LossND
RANBP6-
-
-
-
1LossND
RAP1A-
-
-
-
1LossND
RAP1GAP2p.S599Y
Missense
SNP
0.474
2-ND
RAP1GDS1-
-
-
-
1LossND
RAP2A-
-
-
-
1LossND
RAP2B-
-
-
-
3GainND
RAPGEF2-
-
-
-
1LossND
RAPGEF6-
-
-
-
1LossND
RARB-
-
-
-
3GainND
RARRES1-
-
-
-
3GainND
RARRES2-
-
-
-
3GainND
RARRES3-
-
-
-
1LossND
RARS-
-
-
-
1LossND
RASA2-
-
-
-
3GainND
RASA3-
-
-
-
1LossND
RASAL2-
-
-
-
3GainND
RASGEF1B-
-
-
-
1LossND
RASGEF1C-
-
-
-
1LossND
RASGRP2-
-
-
-
1LossND
RASL11A-
-
-
-
1LossND
RASL11B-
-
-
-
1LossND
RASSF1-
-
-
-
3GainND
RASSF10-
-
-
-
3GainND
RASSF5-
-
-
-
3GainND
RASSF6-
-
-
-
1LossND
RASSF7-
-
-
-
1LossND
RBAK-
-
-
-
3GainND
RBAK-RBAKDN-
-
-
-
3GainND
RBBP4-
-
-
-
4GainND
RBBP5-
-
-
-
3GainND
RBL2-
-
-
-
1LossND
RBM12Bp.S68F
Missense
SNP
0.499
2-ND
RBM14-
-
-
-
1LossND
RBM14-RBM4-
-
-
-
1LossND
RBM15-
-
-
-
1LossND
RBM15B-
-
-
-
3GainND
RBM22-
-
-
-
1LossND
RBM27-
-
-
-
1LossND
RBM28-
-
-
-
3GainND
RBM33-
-
-
-
3GainND
RBM34-
-
-
-
3GainND
RBM4-
-
-
-
1LossND
RBM46-
-
-
-
1LossND
RBM4B-
-
-
-
1LossND
RBM5-
-
-
-
3GainND
RBM6-
-
-
-
3GainND
RBM7-
-
-
-
1LossND
RBM8Ap.G61S
Missense
SNP
0.345
3GainND
RBMS3-
-
-
-
3GainND
RBMXL1-
-
-
-
1LossND
RBMXL2-
-
-
-
1LossND
RBP1-
-
-
-
3GainND
RBP2-
-
-
-
3GainND
RBSN-
-
-
-
3GainND
RC3H1-
-
-
-
3GainND
RCE1-
-
-
-
1LossND
RCHY1-
-
-
-
1LossND
RCL1-
-
-
-
1LossND
RCN1-
-
-
-
3GainND
RCOR2-
-
-
-
1LossND
RCOR3-
-
-
-
3GainND
RCSD1-
-
-
-
3GainND
RD3-
-
-
-
3GainND
RDX-
-
-
-
1LossND
REELD1-
-
-
-
1LossND
REEP2-
-
-
-
1LossND
REEP5-
-
-
-
1LossND
RELA-
-
-
-
1LossND
RELL2-
-
-
-
1LossND
RELNp.G3030E
Missense
SNP
0.506
2-ND
REN-
-
-
-
3GainND
REPIN1-
-
-
-
3GainND
REPS1-
-
-
-
1LossND
RERGLp.K140M
Missense
SNP
0.473
2-ND
REST-
-
-
-
1LossND
RETNLB-
-
-
-
3GainND
REV3L-
-
-
-
1LossND
REXO2-
-
-
-
1LossND
RFC3-
-
-
-
1LossND
RFC4-
-
-
-
3GainND
RFPL4B-
-
-
-
1LossND
RFT1-
-
-
-
3GainND
RFTN1-
-
-
-
3GainND
RFWD3-
-
-
-
1LossND
RFX3-
-
-
-
1LossND
RFX5-
-
-
-
3GainND
RFX6-
-
-
-
1LossND
RFX7-
-
-
-
1LossND
RFXAP-
-
-
-
1LossND
RGL1-
-
-
-
3GainND
RGMAp.P150L
Missense
SNP
0.484
2-ND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS1-
-
-
-
3GainND
RGS13-
-
-
-
3GainND
RGS14-
-
-
-
1LossND
RGS16-
-
-
-
3GainND
RGS17-
-
-
-
1LossND
RGS18-
-
-
-
3GainND
RGS2-
-
-
-
3GainND
RGS21-
-
-
-
3GainND
RGS4-
-
-
-
3GainND
RGS5-
-
-
-
3GainND
RGS7-
-
-
-
3GainND
RGS8-
-
-
-
3GainND
RGS9p.A186T
Missense
SNP
0.447
2-ND
RGSL1-
-
-
-
3GainND
RHBG-
-
-
-
3GainND
RHEB-
-
-
-
3GainND
RHEX-
-
-
-
3GainND
RHO-
-
-
-
3GainND
RHOA-
-
-
-
3GainND
RHOC-
-
-
-
1LossND
RHOD-
-
-
-
1LossND
RHOG-
-
-
-
1LossND
RHOU-
-
-
-
3GainND
RIC1-
-
-
-
1LossND
RIC8A-
-
-
-
1LossND
RICTORp.S718F
Missense
SNP
0.470
2-ND
RIIAD1-
-
-
-
3GainND
RIN1-
-
-
-
1LossND
RIOX2-
-
-
-
3GainND
RIPOR1-
-
-
-
1LossND
RIT1-
-
-
-
3GainND
RLN1-
-
-
-
1LossND
RLN2-
-
-
-
1LossND
RMND1-
-
-
-
1LossND
RMND5B-
-
-
-
1LossND
RNASE1p.Q56*
Nonsense
SNP
0.430
2-ND
RNASEH2C-
-
-
-
1LossND
RNASEL-
-
-
-
3GainND
RNASET2-
-
-
-
1LossND
RNF113B-
-
-
-
1LossND
RNF115-
-
-
-
3GainND
RNF121-
-
-
-
1LossND
RNF123-
-
-
-
3GainND
RNF13-
-
-
-
3GainND
RNF130-
-
-
-
1LossND
RNF133-
-
-
-
3GainND
RNF14-
-
-
-
1LossND
RNF145-
-
-
-
1LossND
RNF146-
-
-
-
1LossND
RNF148-
-
-
-
3GainND
RNF166-
-
-
-
1LossND
RNF168-
-
-
-
3GainND
RNF169-
-
-
-
1LossND
RNF17-
-
-
-
1LossND
RNF175-
-
-
-
1LossND
RNF187-
-
-
-
3GainND
RNF19B-
-
-
-
4GainND
RNF2-
-
-
-
3GainND
RNF214-
-
-
-
1LossND
RNF216-
-
-
-
3GainND
RNF217-
-
-
-
1LossND
RNF223p.E67K
Missense
SNP
0.452
2-ND
RNF26-
-
-
-
1LossND
RNF32-
-
-
-
3GainND
RNF43p.P118L
Missense
SNP
0.463
2-ND
RNF44-
-
-
-
1LossND
RNF6-
-
-
-
1LossND
RNF7-
-
-
-
3GainND
RNH1-
-
-
-
1LossND
RNPC3-
-
-
-
1LossND
RNPEP-
-
-
-
3GainND
ROBO1-
-
-
-
3GainND
ROBO2-
-
-
-
3GainND
ROBO3p.P1142T
Missense
DNP
1.000
1LossND
ROBO4p.P997H
Missense
SNP
0.995
1LossND
ROM1-
-
-
-
1LossND
ROPN1-
-
-
-
3GainND
ROPN1B-
-
-
-
3GainND
RORC-
-
-
-
3GainND
ROS1-
-
-
-
1LossND
RP11-407P15.2p.G223S
Missense
SNP
0.512
NDNDND
RPA3-
-
-
-
3GainND
RPAP2-
-
-
-
1LossND
RPE65-
-
-
-
1LossND
RPF1-
-
-
-
1LossND
RPF2-
-
-
-
1LossND
RPGRIP1L-
-
-
-
1LossND
RPL13-
-
-
-
1LossND
RPL14-
-
-
-
3GainND
RPL15-
-
-
-
3GainND
RPL21-
-
-
-
1LossND
RPL22L1-
-
-
-
3GainND
RPL24-
-
-
-
3GainND
RPL26L1-
-
-
-
1LossND
RPL29-
-
-
-
3GainND
RPL32-
-
-
-
3GainND
RPL34-
-
-
-
1LossND
RPL35A-
-
-
-
3GainND
RPL39L-
-
-
-
3GainND
RPL5-
-
-
-
1LossND
RPLP2-
-
-
-
1LossND
RPN1-
-
-
-
3GainND
RPP14-
-
-
-
3GainND
RPRD2-
-
-
-
3GainND
RPS12-
-
-
-
1LossND
RPS13-
-
-
-
3GainND
RPS14-
-
-
-
1LossND
RPS25-
-
-
-
1LossND
RPS27-
-
-
-
3GainND
RPS3-
-
-
-
1LossND
RPS3A-
-
-
-
1LossND
RPS6-
-
-
-
1LossND
RPS6KA2-
-
-
-
1LossND
RPS6KA4-
-
-
-
1LossND
RPS6KB2-
-
-
-
1LossND
RPS6KC1-
-
-
-
3GainND
RPSA-
-
-
-
3GainND
RPTN-
-
-
-
3GainND
RPUSD3-
-
-
-
3GainND
RPUSD4-
-
-
-
1LossND
RRAD-
-
-
-
1LossND
RRAGA-
-
-
-
1LossND
RRAS2-
-
-
-
3GainND
RRH-
-
-
-
1LossND
RRM1-
-
-
-
1LossND
RRNAD1-
-
-
-
3GainND
RRP15-
-
-
-
3GainND
RRP8-
-
-
-
1LossND
RRP9-
-
-
-
3GainND
RSBN1-
-
-
-
1LossND
RSF1-
-
-
-
1LossND
RSL24D1-
-
-
-
1LossND
RSPH10B-
-
-
-
3GainND
RSPH10B2-
-
-
-
3GainND
RSPH3-
-
-
-
1LossND
RSPH4A-
-
-
-
1LossND
RSPO3-
-
-
-
1LossND
RSPRY1-
-
-
-
1LossND
RSRC1-
-
-
-
3GainND
RTCA-
-
-
-
1LossND
RTL1p.E54K
Missense
SNP
0.463
2-ND
RTN1p.G602S
Missense
SNP
0.575
2-ND
RTN3-
-
-
-
1LossND
RTN4IP1-
-
-
-
1LossND
RTN4RL2-
-
-
-
1LossND
RTP1-
-
-
-
3GainND
RTP2-
-
-
-
3GainND
RTP3-
-
-
-
3GainND
RTP4-
-
-
-
3GainND
RUBCN-
-
-
-
3GainND
RUFY1-
-
-
-
1LossND
RUFY3-
-
-
-
1LossND
RUNDC1p.SQ355R*
Nonsense
DNP
0.390
2-ND
RUSC1-
-
-
-
3GainND
RUVBL1-
-
-
-
3GainND
RWDD1-
-
-
-
1LossND
RWDD3-
-
-
-
1LossND
RWDD4-
-
-
-
1LossND
RXFP1-
-
-
-
1LossND
RXFP2-
-
-
-
1LossND
RXFP4-
-
-
-
3GainND
RXRG-
-
-
-
3GainND
RYBP-
-
-
-
3GainND
RYK-
-
-
-
3GainND
RYR1p.X2482_splice
p.M3652V
Splice_Site
Missense
SNP
SNP
0.456
0.508
2-ND
RYR2p.G2166E
Missense
SNP
0.362
3GainND
S100A1-
-
-
-
3GainND
S100A10-
-
-
-
3GainND
S100A11-
-
-
-
3GainND
S100A12-
-
-
-
3GainND
S100A13-
-
-
-
3GainND
S100A14-
-
-
-
3GainND
S100A16-
-
-
-
3GainND
S100A2-
-
-
-
3GainND
S100A3-
-
-
-
3GainND
S100A4-
-
-
-
3GainND
S100A5-
-
-
-
3GainND
S100A6-
-
-
-
3GainND
S100A7-
-
-
-
3GainND
S100A7A-
-
-
-
3GainND
S100A7L2-
-
-
-
3GainND
S100A8-
-
-
-
3GainND
S100A9-
-
-
-
3GainND
S100PBP-
-
-
-
4GainND
S1PR1-
-
-
-
1LossND
SAA1-
-
-
-
3GainND
SAA2-
-
-
-
3GainND
SAA2-SAA4-
-
-
-
3GainND
SAA4-
-
-
-
3GainND
SAAL1-
-
-
-
3GainND
SAC3D1-
-
-
-
1LossND
SACM1L-
-
-
-
3GainND
SACSp.P4543S
Missense
SNP
1.000
1LossND
SALL1-
-
-
-
1LossND
SALL4p.G280E
Missense
SNP
0.521
2-ND
SAMD13-
-
-
-
1LossND
SAMD3-
-
-
-
1LossND
SAMD5-
-
-
-
1LossND
SAMD7-
-
-
-
3GainND
SAMD9Lp.D1311N
Missense
SNP
0.483
2-ND
SAP18-
-
-
-
1LossND
SAP30-
-
-
-
1LossND
SAP30L-
-
-
-
1LossND
SAR1B-
-
-
-
1LossND
SARS-
-
-
-
1LossND
SART1-
-
-
-
1LossND
SASH1-
-
-
-
1LossND
SASS6-
-
-
-
1LossND
SATB1-
-
-
-
3GainND
SATB2p.D609N
Missense
SNP
0.434
2-ND
SAXO1-
-
-
-
1LossND
SC5D-
-
-
-
1LossND
SCAF8-
-
-
-
1LossND
SCAMP3-
-
-
-
3GainND
SCAP-
-
-
-
3GainND
SCARB2-
-
-
-
1LossND
SCCPDH-
-
-
-
3GainND
SCD5-
-
-
-
1LossND
SCFD2-
-
-
-
1LossND
SCG3-
-
-
-
1LossND
SCGB1A1-
-
-
-
1LossND
SCGB1C1-
-
-
-
1LossND
SCGB1D1-
-
-
-
1LossND
SCGB1D2-
-
-
-
1LossND
SCGB1D4-
-
-
-
1LossND
SCGB2A1-
-
-
-
1LossND
SCGB2A2-
-
-
-
1LossND
SCGB3A1-
-
-
-
1LossND
SCGB3A2-
-
-
-
1LossND
SCHIP1-
-
-
-
3GainND
SCLT1-
-
-
-
1LossND
SCML4-
-
-
-
1LossND
SCN10A-
-
-
-
3GainND
SCN11A-
-
-
-
3GainND
SCN2B-
-
-
-
1LossND
SCN3B-
-
-
-
1LossND
SCN4B-
-
-
-
1LossND
SCN5A-
-
-
-
3GainND
SCNM1-
-
-
-
3GainND
SCRG1-
-
-
-
1LossND
SCT-
-
-
-
1LossND
SCYL1-
-
-
-
1LossND
SCYL3-
-
-
-
3GainND
SDAD1-
-
-
-
1LossND
SDCCAG8-
-
-
-
3GainND
SDE2-
-
-
-
3GainND
SDHAF2-
-
-
-
1LossND
SDHC-
-
-
-
3GainND
SDHD-
-
-
-
1LossND
SDK1p.A378V
p.P962F
Missense
Missense
DNP
DNP
0.310
0.333
3GainND
SDR16C5p.G16E
Missense
SNP
0.550
2-ND
SDR42E1-
-
-
-
1LossND
SEC13-
-
-
-
3GainND
SEC16Ap.P2224L
Missense
SNP
0.478
2-ND
SEC16B-
-
-
-
3GainND
SEC22A-
-
-
-
3GainND
SEC22C-
-
-
-
3GainND
SEC24A-
-
-
-
1LossND
SEC24B-
-
-
-
1LossND
SEC24D-
-
-
-
1LossND
SEC31A-
-
-
-
1LossND
SEC61A1-
-
-
-
3GainND
SEC62-
-
-
-
3GainND
SEC63-
-
-
-
1LossND
SECISBP2p.S309F
Missense
SNP
0.582
2-ND
SECISBP2L-
-
-
-
1LossND
SEL1Lp.Q73*
Nonsense
SNP
0.435
2-ND
SEL1L3p.D921N
Missense
SNP
0.506
2-ND
SELE-
-
-
-
3GainND
SELENBP1-
-
-
-
3GainND
SELENOF-
-
-
-
1LossND
SELENOH-
-
-
-
1LossND
SELENOK-
-
-
-
3GainND
SELENOT-
-
-
-
3GainND
SELL-
-
-
-
3GainND
SELP-
-
-
-
3GainND
SEMA3B-
-
-
-
3GainND
SEMA3F-
-
-
-
3GainND
SEMA3G-
-
-
-
3GainND
SEMA4A-
-
-
-
3GainND
SEMA5B-
-
-
-
3GainND
SEMA6A-
-
-
-
1LossND
SEMA6C-
-
-
-
3GainND
SEMA6D-
-
-
-
1LossND
SENP2-
-
-
-
3GainND
SENP5-
-
-
-
3GainND
SENP7p.P264L
Missense
SNP
0.661
3GainND
SEPT11-
-
-
-
1LossND
SEPT8-
-
-
-
1LossND
SERAC1-
-
-
-
1LossND
SERBP1-
-
-
-
1LossND
SERF2-
-
-
-
1LossND
SERGEF-
-
-
-
3GainND
SERINC1-
-
-
-
1LossND
SERINC4-
-
-
-
1LossND
SERP1-
-
-
-
3GainND
SERPINC1-
-
-
-
3GainND
SERPINE1p.G39K
Missense
DNP
0.417
2-ND
SERPINF1p.P45L
Missense
SNP
0.434
2-ND
SERPING1-
-
-
-
1LossND
SERPINH1-
-
-
-
1LossND
SERPINI1-
-
-
-
3GainND
SERPINI2-
-
-
-
3GainND
SERTAD4-
-
-
-
3GainND
SERTM1-
-
-
-
1LossND
SESN1-
-
-
-
1LossND
SESN3-
-
-
-
1LossND
SETD2-
-
-
-
3GainND
SETD5-
-
-
-
3GainND
SETD6-
-
-
-
1LossND
SETD7-
-
-
-
1LossND
SETDB1-
-
-
-
3GainND
SETMAR-
-
-
-
3GainND
SF1-
-
-
-
1LossND
SF3A1p.P147S
Missense
SNP
0.459
2-ND
SF3B1p.P465S
Missense
SNP
0.467
2-ND
SF3B2-
-
-
-
1LossND
SF3B3-
-
-
-
1LossND
SF3B4-
-
-
-
3GainND
SF3B5-
-
-
-
1LossND
SFMBT1-
-
-
-
3GainND
SFRP2-
-
-
-
1LossND
SFT2D1-
-
-
-
1LossND
SFT2D2-
-
-
-
3GainND
SFXN1-
-
-
-
1LossND
SGCB-
-
-
-
1LossND
SGCD-
-
-
-
1LossND
SGCG-
-
-
-
1LossND
SGIP1-
-
-
-
1LossND
SGK1-
-
-
-
1LossND
SGK223p.P1241S
Missense
SNP
0.481
NDNDND
SGMS2-
-
-
-
1LossND
SGO1-
-
-
-
3GainND
SH2D1B-
-
-
-
3GainND
SH2D2A-
-
-
-
3GainND
SH3BP1-
-
-
-
3GainND
SH3BP5-
-
-
-
3GainND
SH3BP5L-
-
-
-
3GainND
SH3D19-
-
-
-
1LossND
SH3GL2-
-
-
-
1LossND
SH3GLB1-
-
-
-
1LossND
SH3PXD2B-
-
-
-
1LossND
SH3RF1-
-
-
-
1LossND
SH3RF2-
-
-
-
1LossND
SH3TC2-
-
-
-
1LossND
SHANK2-
-
-
-
1LossND
SHC1-
-
-
-
3GainND
SHC4-
-
-
-
1LossND
SHCBP1-
-
-
-
1LossND
SHCBP1L-
-
-
-
3GainND
SHE-
-
-
-
3GainND
SHF-
-
-
-
1LossND
SHH-
-
-
-
3GainND
SHISA2-
-
-
-
1LossND
SHISA4-
-
-
-
3GainND
SHISA5-
-
-
-
3GainND
SHOX2-
-
-
-
3GainND
SHPRH-
-
-
-
1LossND
SHQ1-
-
-
-
3GainND
SHROOM1-
-
-
-
1LossND
SHROOM3-
-
-
-
1LossND
SI-
-
-
-
3GainND
SIAE-
-
-
-
1LossND
SIAH1-
-
-
-
1LossND
SIAH2-
-
-
-
3GainND
SIDT1-
-
-
-
3GainND
SIDT2-
-
-
-
1LossND
SIGIRR-
-
-
-
1LossND
SIK2-
-
-
-
1LossND
SIK3-
-
-
-
1LossND
SIKE1-
-
-
-
1LossND
SIL1-
-
-
-
1LossND
SIM1-
-
-
-
1LossND
SIMC1-
-
-
-
1LossND
SIPA1-
-
-
-
1LossND
SIPA1L2-
-
-
-
3GainND
SIPA1L3p.R82K
Missense
SNP
0.493
2-ND
SIRT2p.A176V
Missense
DNP
0.463
2-ND
SIRT3-
-
-
-
1LossND
SKA3-
-
-
-
1LossND
SKIL-
-
-
-
3GainND
SKP1-
-
-
-
1LossND
SLAMF1-
-
-
-
3GainND
SLAMF6-
-
-
-
3GainND
SLAMF7-
-
-
-
3GainND
SLAMF8-
-
-
-
3GainND
SLAMF9-
-
-
-
3GainND
SLC10A2-
-
-
-
1LossND
SLC10A6-
-
-
-
1LossND
SLC10A7-
-
-
-
1LossND
SLC12A1-
-
-
-
1LossND
SLC12A2-
-
-
-
1LossND
SLC12A3-
-
-
-
1LossND
SLC12A4-
-
-
-
1LossND
SLC12A8-
-
-
-
3GainND
SLC13A1-
-
-
-
3GainND
SLC13A4-
-
-
-
3GainND
SLC13A5p.G349D
Missense
SNP
0.480
2-ND
SLC15A1-
-
-
-
1LossND
SLC15A2p.E674K
Missense
SNP
0.659
3GainND
SLC15A3-
-
-
-
1LossND
SLC16A1-
-
-
-
1LossND
SLC16A10-
-
-
-
1LossND
SLC16A4-
-
-
-
1LossND
SLC17A6-
-
-
-
3GainND
SLC18B1-
-
-
-
1LossND
SLC19A2-
-
-
-
3GainND
SLC1A1-
-
-
-
1LossND
SLC1A2-
-
-
-
3GainND
SLC1A3p.R477C
Missense
SNP
0.426
2-ND
SLC22A1-
-
-
-
1LossND
SLC22A10-
-
-
-
1LossND
SLC22A11-
-
-
-
1LossND
SLC22A12-
-
-
-
1LossND
SLC22A13-
-
-
-
3GainND
SLC22A14-
-
-
-
3GainND
SLC22A15-
-
-
-
1LossND
SLC22A16-
-
-
-
1LossND
SLC22A18-
-
-
-
1LossND
SLC22A18AS-
-
-
-
1LossND
SLC22A2-
-
-
-
1LossND
SLC22A24-
-
-
-
1LossND
SLC22A25-
-
-
-
1LossND
SLC22A3-
-
-
-
1LossND
SLC22A31-
-
-
-
1LossND
SLC22A4-
-
-
-
1LossND
SLC22A5-
-
-
-
1LossND
SLC22A6-
-
-
-
1LossND
SLC22A8-
-
-
-
1LossND
SLC22A9-
-
-
-
1LossND
SLC23A1-
-
-
-
1LossND
SLC24A2-
-
-
-
1LossND
SLC24A3p.E410K
Missense
SNP
0.358
2-ND
SLC24A5-
-
-
-
1LossND
SLC25A2-
-
-
-
1LossND
SLC25A20-
-
-
-
3GainND
SLC25A22-
-
-
-
1LossND
SLC25A24-
-
-
-
1LossND
SLC25A26-
-
-
-
3GainND
SLC25A31-
-
-
-
1LossND
SLC25A36-
-
-
-
3GainND
SLC25A38-
-
-
-
3GainND
SLC25A4-
-
-
-
1LossND
SLC25A44-
-
-
-
3GainND
SLC25A45-
-
-
-
1LossND
SLC25A46-
-
-
-
1LossND
SLC25A48-
-
-
-
1LossND
SLC26A2-
-
-
-
1LossND
SLC26A6-
-
-
-
3GainND
SLC26A9-
-
-
-
3GainND
SLC27A2-
-
-
-
1LossND
SLC27A3-
-
-
-
3GainND
SLC27A4p.P438L
Missense
SNP
0.475
2-ND
SLC27A6-
-
-
-
1LossND
SLC28A2-
-
-
-
1LossND
SLC29A2-
-
-
-
1LossND
SLC29A4-
-
-
-
3GainND
SLC2A12-
-
-
-
1LossND
SLC2A2-
-
-
-
3GainND
SLC30A1-
-
-
-
3GainND
SLC30A10-
-
-
-
3GainND
SLC30A4-
-
-
-
1LossND
SLC30A6p.L309F
Missense
SNP
0.475
2-ND
SLC30A7-
-
-
-
1LossND
SLC33A1-
-
-
-
3GainND
SLC34A1-
-
-
-
1LossND
SLC35A3-
-
-
-
1LossND
SLC35A4-
-
-
-
1LossND
SLC35A5-
-
-
-
3GainND
SLC35B4-
-
-
-
3GainND
SLC35D1-
-
-
-
1LossND
SLC35D3-
-
-
-
1LossND
SLC35F1-
-
-
-
1LossND
SLC35F2-
-
-
-
1LossND
SLC35F3-
-
-
-
3GainND
SLC35G2-
-
-
-
3GainND
SLC36A1-
-
-
-
1LossND
SLC36A2-
-
-
-
1LossND
SLC36A3-
-
-
-
1LossND
SLC36A4-
-
-
-
1LossND
SLC37A2-
-
-
-
1LossND
SLC37A3-
-
-
-
3GainND
SLC37A4-
-
-
-
1LossND
SLC38A3p.G125S
Missense
SNP
0.648
3GainND
SLC38A7-
-
-
-
1LossND
SLC38A8-
-
-
-
1LossND
SLC39A1-
-
-
-
3GainND
SLC39A13p.S71F
Missense
SNP
0.534
2-ND
SLC39A8-
-
-
-
1LossND
SLC3A2-
-
-
-
1LossND
SLC41A1-
-
-
-
3GainND
SLC41A3-
-
-
-
3GainND
SLC43A1-
-
-
-
1LossND
SLC43A3-
-
-
-
1LossND
SLC44A3-
-
-
-
1LossND
SLC44A4p.X587_splice
Splice_Site
SNP
0.509
2-ND
SLC44A5p.M490I
Missense
SNP
1.000
1LossND
SLC45A3-
-
-
-
3GainND
SLC46A3-
-
-
-
1LossND
SLC4A10p.L374F
Missense
SNP
0.475
2-ND
SLC4A11p.S271F
Missense
SNP
0.477
2-ND
SLC4A2-
-
-
-
3GainND
SLC4A4-
-
-
-
1LossND
SLC4A7-
-
-
-
3GainND
SLC4A9-
-
-
-
1LossND
SLC50A1-
-
-
-
3GainND
SLC51A-
-
-
-
3GainND
SLC5A12-
-
-
-
3GainND
SLC5A6p.W469*
Nonsense
SNP
0.485
2-ND
SLC6A1-
-
-
-
3GainND
SLC6A11-
-
-
-
3GainND
SLC6A17-
-
-
-
1LossND
SLC6A2-
-
-
-
1LossND
SLC6A20-
-
-
-
3GainND
SLC6A5-
-
-
-
3GainND
SLC6A6-
-
-
-
3GainND
SLC6A7-
-
-
-
1LossND
SLC6A9p.T639I
Missense
SNP
0.459
2-ND
SLC7A1-
-
-
-
1LossND
SLC7A11-
-
-
-
1LossND
SLC7A14-
-
-
-
3GainND
SLC7A5-
-
-
-
1LossND
SLC7A6-
-
-
-
1LossND
SLC7A6OS-
-
-
-
1LossND
SLC9A5-
-
-
-
1LossND
SLC9A9-
-
-
-
3GainND
SLC9B1-
-
-
-
1LossND
SLC9B2-
-
-
-
1LossND
SLC9C1-
-
-
-
3GainND
SLC9C2-
-
-
-
3GainND
SLCO1A2p.E273K
Missense
SNP
0.498
2-ND
SLCO2A1-
-
-
-
3GainND
SLCO2B1-
-
-
-
1LossND
SLIT3-
-
-
-
1LossND
SLITRK1p.A492V
p.P262L
Missense
Missense
SNP
SNP
0.524
0.556
3GainND
SLITRK3-
-
-
-
3GainND
SLITRK5-
-
-
-
3GainND
SLITRK6-
-
-
-
3GainND
SLMAP-
-
-
-
3GainND
SLU7-
-
-
-
1LossND
SMAD1-
-
-
-
1LossND
SMAD5-
-
-
-
1LossND
SMAD9-
-
-
-
1LossND
SMARCA2-
-
-
-
1LossND
SMARCAD1-
-
-
-
1LossND
SMARCC1-
-
-
-
3GainND
SMARCD3-
-
-
-
3GainND
SMC4-
-
-
-
3GainND
SMCHD1p.V1199I
Missense
DNP
0.419
2-ND
SMCO1-
-
-
-
3GainND
SMCO4-
-
-
-
1LossND
SMCP-
-
-
-
3GainND
SMG5-
-
-
-
3GainND
SMG7-
-
-
-
3GainND
SMIM23-
-
-
-
1LossND
SMIM3-
-
-
-
1LossND
SMIM30-
-
-
-
3GainND
SMIM32-
-
-
-
1LossND
SMIM33-
-
-
-
1LossND
SMIM4-
-
-
-
3GainND
SMKR1-
-
-
-
3GainND
SMLR1-
-
-
-
1LossND
SMO-
-
-
-
3GainND
SMOC2-
-
-
-
1LossND
SMPD1-
-
-
-
1LossND
SMPD2-
-
-
-
1LossND
SMPD3-
-
-
-
1LossND
SMPDL3A-
-
-
-
1LossND
SMR3A-
-
-
-
1LossND
SMR3B-
-
-
-
1LossND
SMTNL1-
-
-
-
1LossND
SMYD2-
-
-
-
3GainND
SMYD3-
-
-
-
3GainND
SNAI3-
-
-
-
1LossND
SNAP23-
-
-
-
1LossND
SNAP47-
-
-
-
3GainND
SNAPC3-
-
-
-
1LossND
SNAPIN-
-
-
-
3GainND
SNCA-
-
-
-
1LossND
SNCAIP-
-
-
-
1LossND
SNCB-
-
-
-
1LossND
SND1-
-
-
-
3GainND
SNHG28-
-
-
-
3GainND
SNRK-
-
-
-
3GainND
SNRPBp.P224S
Missense
SNP
0.521
2-ND
SNRPE-
-
-
-
3GainND
SNRPN-
-
-
-
1LossND
SNTB2-
-
-
-
1LossND
SNTN-
-
-
-
3GainND
SNURF-
-
-
-
1LossND
SNX15-
-
-
-
1LossND
SNX19-
-
-
-
1LossND
SNX2-
-
-
-
1LossND
SNX20-
-
-
-
1LossND
SNX24-
-
-
-
1LossND
SNX25-
-
-
-
1LossND
SNX27-
-
-
-
3GainND
SNX3-
-
-
-
1LossND
SNX32-
-
-
-
1LossND
SNX4-
-
-
-
3GainND
SNX7-
-
-
-
1LossND
SNX8p.R226W
Missense
DNP
0.273
3GainND
SNX9-
-
-
-
1LossND
SOAT1-
-
-
-
3GainND
SOBP-
-
-
-
1LossND
SOD2-
-
-
-
1LossND
SOGA3-
-
-
-
1LossND
SOHLH2-
-
-
-
1LossND
SORBS2-
-
-
-
1LossND
SORD-
-
-
-
1LossND
SORL1-
-
-
-
1LossND
SORT1-
-
-
-
1LossND
SOWAHA-
-
-
-
1LossND
SOWAHB-
-
-
-
1LossND
SOX1-
-
-
-
1LossND
SOX13-
-
-
-
3GainND
SOX14-
-
-
-
3GainND
SOX17p.G301S
Missense
SNP
0.442
2-ND
SOX2-
-
-
-
3GainND
SOX21-
-
-
-
1LossND
SOX30-
-
-
-
1LossND
SOX6-
-
-
-
3GainND
SP110p.L611F
Missense
SNP
0.491
2-ND
SP140p.D838N
Missense
SNP
0.568
2-ND
SP140Lp.P301S
Missense
SNP
0.392
2-ND
SP7p.G173S
Missense
SNP
0.503
2-ND
SPA17-
-
-
-
1LossND
SPACA7-
-
-
-
1LossND
SPAG17-
-
-
-
1LossND
SPAM1-
-
-
-
3GainND
SPANXN1p.M43I
Missense
SNP
1.000
NDNDND
SPANXN3p.G120E
Missense
SNP
1.000
NDNDND
SPARC-
-
-
-
1LossND
SPARCL1-
-
-
-
1LossND
SPART-
-
-
-
1LossND
SPATA1-
-
-
-
1LossND
SPATA12-
-
-
-
3GainND
SPATA13-
-
-
-
1LossND
SPATA16p.Q480*
Nonsense
SNP
0.609
3GainND
SPATA17-
-
-
-
3GainND
SPATA18-
-
-
-
1LossND
SPATA19-
-
-
-
1LossND
SPATA21p.G154E
Missense
SNP
0.444
2-ND
SPATA24-
-
-
-
1LossND
SPATA2L-
-
-
-
1LossND
SPATA31E1p.S678Y
p.R741L
Missense
Missense
SNP
SNP
0.498
0.459
2-ND
SPATA33-
-
-
-
1LossND
SPATA4-
-
-
-
1LossND
SPATA45-
-
-
-
3GainND
SPATA46-
-
-
-
3GainND
SPATA5-
-
-
-
1LossND
SPATA5L1-
-
-
-
1LossND
SPATA6L-
-
-
-
1LossND
SPCS1-
-
-
-
3GainND
SPCS2-
-
-
-
1LossND
SPCS3-
-
-
-
1LossND
SPDL1p.E79D
Missense
SNP
0.987
1LossND
SPDYC-
-
-
-
1LossND
SPDYE1p.W28*
Nonsense
SNP
0.586
NDNDND
SPEGp.E1388K
Missense
SNP
0.523
2-ND
SPG11-
-
-
-
1LossND
SPG7-
-
-
-
1LossND
SPHAR-
-
-
-
3GainND
SPICE1-
-
-
-
3GainND
SPINDOC-
-
-
-
1LossND
SPINK1-
-
-
-
1LossND
SPINK13-
-
-
-
1LossND
SPINK14-
-
-
-
1LossND
SPINK2-
-
-
-
1LossND
SPINK5-
-
-
-
1LossND
SPINK6-
-
-
-
1LossND
SPINK7-
-
-
-
1LossND
SPINK8-
-
-
-
3GainND
SPINK9-
-
-
-
1LossND
SPIRE2-
-
-
-
1LossND
SPOCK1-
-
-
-
1LossND
SPOCK3-
-
-
-
1LossND
SPON1-
-
-
-
3GainND
SPP1-
-
-
-
1LossND
SPPL2A-
-
-
-
1LossND
SPRR1A-
-
-
-
3GainND
SPRR1B-
-
-
-
3GainND
SPRR3-
-
-
-
3GainND
SPRR4-
-
-
-
3GainND
SPRTN-
-
-
-
3GainND
SPRY1-
-
-
-
1LossND
SPRY4-
-
-
-
1LossND
SPSB4-
-
-
-
3GainND
SPTA1-
-
-
-
3GainND
SPTBN2-
-
-
-
1LossND
SPTSSB-
-
-
-
3GainND
SPTY2D1-
-
-
-
3GainND
SQOR-
-
-
-
1LossND
SQSTM1-
-
-
-
1LossND
SRA1-
-
-
-
1LossND
SRD5A3-
-
-
-
1LossND
SRFBP1-
-
-
-
1LossND
SRGAP2-
-
-
-
3GainND
SRGAP2B-
-
-
-
3GainND
SRGAP3-
-
-
-
3GainND
SRP19-
-
-
-
1LossND
SRP72-
-
-
-
1LossND
SRP9-
-
-
-
3GainND
SRPRA-
-
-
-
1LossND
SRPRB-
-
-
-
3GainND
SRSF11-
-
-
-
1LossND
SRSF8-
-
-
-
1LossND
SS18L2-
-
-
-
3GainND
SSBP1-
-
-
-
3GainND
SSH3-
-
-
-
1LossND
SSMEM1p.K177R
Missense
SNP
0.291
3GainND
SSPO-
-
-
-
3GainND
SSR2-
-
-
-
3GainND
SSR3-
-
-
-
3GainND
SSRP1-
-
-
-
1LossND
SSSCA1-
-
-
-
1LossND
SST-
-
-
-
3GainND
SSU72P2-
-
-
-
1LossND
SSU72P3-
-
-
-
1LossND
SSU72P4-
-
-
-
1LossND
SSU72P5-
-
-
-
1LossND
SSU72P8-
-
-
-
3GainND
SSUH2-
-
-
-
3GainND
SSX2IP-
-
-
-
1LossND
ST14-
-
-
-
1LossND
ST3GAL2-
-
-
-
1LossND
ST3GAL4-
-
-
-
1LossND
ST3GAL6-
-
-
-
3GainND
ST6GAL1-
-
-
-
3GainND
ST6GALNAC3-
-
-
-
1LossND
ST6GALNAC5-
-
-
-
1LossND
ST7p.L338F
Missense
DNP
0.264
3GainND
ST7L-
-
-
-
1LossND
ST8SIA4p.H315Y
p.R137C
Missense
Missense
SNP
SNP
0.550
0.485
2-ND
STAB1-
-
-
-
3GainND
STAC-
-
-
-
3GainND
STAG1-
-
-
-
3GainND
STAP1-
-
-
-
1LossND
STARD13-
-
-
-
1LossND
STARD4-
-
-
-
1LossND
STARD9-
-
-
-
1LossND
STATH-
-
-
-
1LossND
STBD1-
-
-
-
1LossND
STC2-
-
-
-
1LossND
STIM1-
-
-
-
1LossND
STIMATE-
-
-
-
3GainND
STIP1-
-
-
-
1LossND
STK10-
-
-
-
1LossND
STK24-
-
-
-
1LossND
STK31p.R728Q
Missense
SNP
0.471
2-ND
STK32A-
-
-
-
1LossND
STKLD1p.R271K
Missense
SNP
0.433
2-ND
STMN4p.R201E
Missense
DNP
0.455
2-ND
STMP1-
-
-
-
3GainND
STOX2-
-
-
-
1LossND
STPG2-
-
-
-
1LossND
STRA8p.E130K
Missense
SNP
0.313
3GainND
STRC-
-
-
-
1LossND
STRIP1-
-
-
-
1LossND
STRIP2-
-
-
-
3GainND
STT3A-
-
-
-
1LossND
STT3Bp.E642K
Missense
SNP
0.287
3GainND
STUM-
-
-
-
3GainND
STX11-
-
-
-
1LossND
STX19-
-
-
-
3GainND
STX3-
-
-
-
1LossND
STX5-
-
-
-
1LossND
STX6-
-
-
-
3GainND
STX7-
-
-
-
1LossND
STXBP3-
-
-
-
1LossND
STXBP5-
-
-
-
1LossND
STXBP5L-
-
-
-
3GainND
SUCLG2-
-
-
-
3GainND
SUCNR1-
-
-
-
3GainND
SUCO-
-
-
-
3GainND
SULT1B1-
-
-
-
1LossND
SULT1E1-
-
-
-
1LossND
SUMF1-
-
-
-
3GainND
SUMO4-
-
-
-
1LossND
SUN1-
-
-
-
3GainND
SUN5p.P100L
Missense
SNP
0.508
2-ND
SUPT20H-
-
-
-
1LossND
SUSD4-
-
-
-
3GainND
SUSD5-
-
-
-
3GainND
SV2A-
-
-
-
3GainND
SV2Bp.G157E
Missense
SNP
0.521
2-ND
SVIP-
-
-
-
3GainND
SVOPL-
-
-
-
3GainND
SWT1-
-
-
-
3GainND
SYCE1L-
-
-
-
1LossND
SYCP1-
-
-
-
1LossND
SYDE2-
-
-
-
1LossND
SYN2-
-
-
-
3GainND
SYNC-
-
-
-
4GainND
SYNE1-
-
-
-
1LossND
SYNJ2-
-
-
-
1LossND
SYNPO-
-
-
-
1LossND
SYNPO2-
-
-
-
1LossND
SYNPR-
-
-
-
3GainND
SYPL2-
-
-
-
1LossND
SYT1p.R400Q
Missense
SNP
0.419
2-ND
SYT11-
-
-
-
3GainND
SYT12-
-
-
-
1LossND
SYT14-
-
-
-
3GainND
SYT2-
-
-
-
3GainND
SYT4p.E130K
Missense
SNP
0.417
2-ND
SYT6-
-
-
-
1LossND
SYT7-
-
-
-
1LossND
SYT8-
-
-
-
1LossND
SYT9-
-
-
-
1LossND
SYTL2-
-
-
-
1LossND
SYTL3-
-
-
-
1LossND
SYVN1-
-
-
-
1LossND
SZT2p.W3222*
Nonsense
SNP
0.462
2-ND
TAAR1-
-
-
-
1LossND
TAAR2-
-
-
-
1LossND
TAAR5-
-
-
-
1LossND
TAAR6-
-
-
-
1LossND
TAAR8-
-
-
-
1LossND
TAAR9-
-
-
-
1LossND
TAB2-
-
-
-
1LossND
TACR3-
-
-
-
1LossND
TADA1-
-
-
-
3GainND
TADA3-
-
-
-
3GainND
TAF10-
-
-
-
1LossND
TAF13-
-
-
-
1LossND
TAF1A-
-
-
-
3GainND
TAF1C-
-
-
-
1LossND
TAF1D-
-
-
-
1LossND
TAF1Lp.E705K
Missense
SNP
0.464
2-ND
TAF5L-
-
-
-
3GainND
TAF6L-
-
-
-
1LossND
TAF7-
-
-
-
1LossND
TAGAP-
-
-
-
1LossND
TAGLN-
-
-
-
1LossND
TAGLN2-
-
-
-
3GainND
TAGLN3-
-
-
-
3GainND
TALDO1-
-
-
-
1LossND
TAMM41-
-
-
-
3GainND
TANGO6-
-
-
-
1LossND
TARBP1-
-
-
-
3GainND
TARS2-
-
-
-
3GainND
TAS2R10-
-
-
-
1LossND
TAS2R13-
-
-
-
1LossND
TAS2R14-
-
-
-
1LossND
TAS2R16-
-
-
-
3GainND
TAS2R19-
-
-
-
1LossND
TAS2R20-
-
-
-
1LossND
TAS2R3-
-
-
-
3GainND
TAS2R30-
-
-
-
1LossND
TAS2R31-
-
-
-
1LossND
TAS2R38p.D43N
Missense
SNP
0.296
3GainND
TAS2R39-
-
-
-
3GainND
TAS2R4-
-
-
-
3GainND
TAS2R40-
-
-
-
3GainND
TAS2R41-
-
-
-
3GainND
TAS2R42-
-
-
-
1LossND
TAS2R46-
-
-
-
1LossND
TAS2R5-
-
-
-
3GainND
TAS2R50-
-
-
-
1LossND
TAS2R60-
-
-
-
3GainND
TAS2R7-
-
-
-
1LossND
TAS2R8-
-
-
-
1LossND
TAS2R9-
-
-
-
1LossND
TAT-
-
-
-
1LossND
TATDN2-
-
-
-
3GainND
TATDN3-
-
-
-
3GainND
TBC1D10C-
-
-
-
1LossND
TBC1D15p.M552L
Missense
SNP
0.516
2-ND
TBC1D23-
-
-
-
3GainND
TBC1D32-
-
-
-
1LossND
TBC1D5-
-
-
-
3GainND
TBC1D8p.S598F
Missense
DNP
0.415
2-ND
TBC1D9B-
-
-
-
1LossND
TBCCD1-
-
-
-
3GainND
TBCE-
-
-
-
3GainND
TBCEL-
-
-
-
1LossND
TBCK-
-
-
-
1LossND
TBL1XR1-
-
-
-
3GainND
TBP-
-
-
-
1LossND
TBPL1-
-
-
-
1LossND
TBRG1-
-
-
-
1LossND
TBX10-
-
-
-
1LossND
TBX15-
-
-
-
1LossND
TBX19-
-
-
-
3GainND
TBXAS1-
-
-
-
3GainND
TBXT-
-
-
-
1LossND
TCAF1-
-
-
-
3GainND
TCAF2-
-
-
-
3GainND
TCAIM-
-
-
-
3GainND
TCEAL5p.M44I
Missense
SNP
0.985
NDNDND
TCERG1-
-
-
-
1LossND
TCF12-
-
-
-
1LossND
TCF21-
-
-
-
1LossND
TCF25-
-
-
-
1LossND
TCF7-
-
-
-
1LossND
TCHH-
-
-
-
3GainND
TCHHL1-
-
-
-
3GainND
TCIRG1-
-
-
-
1LossND
TCN1-
-
-
-
1LossND
TCOF1-
-
-
-
1LossND
TCP1-
-
-
-
1LossND
TCP10-
-
-
-
1LossND
TCP10L2-
-
-
-
1LossND
TCP11L1-
-
-
-
3GainND
TCTA-
-
-
-
3GainND
TCTE3-
-
-
-
1LossND
TCTEX1D1-
-
-
-
1LossND
TCTEX1D2-
-
-
-
3GainND
TCTN3p.S497F
Missense
SNP
0.402
2-ND
TDGF1-
-
-
-
3GainND
TDO2-
-
-
-
1LossND
TDP1p.P260S
Missense
SNP
0.519
2-ND
TDRD10-
-
-
-
3GainND
TDRD5p.D369N
Missense
SNP
0.391
3GainND
TDRKH-
-
-
-
3GainND
TEAD1-
-
-
-
3GainND
TECRLp.Q107*
Nonsense
SNP
1.000
1LossND
TECTA-
-
-
-
1LossND
TEDDM1-
-
-
-
3GainND
TENM2p.G58E
Missense
SNP
1.000
1LossND
TENM3-
-
-
-
1LossND
TENM4-
-
-
-
1LossND
TENT4B-
-
-
-
1LossND
TENT5C-
-
-
-
1LossND
TEPP-
-
-
-
1LossND
TERB1-
-
-
-
1LossND
TERB2-
-
-
-
1LossND
TERF2-
-
-
-
1LossND
TERF2IP-
-
-
-
1LossND
TES-
-
-
-
3GainND
TESMIN-
-
-
-
1LossND
TET1p.R1875K
Missense
SNP
0.447
2-ND
TET2-
-
-
-
1LossND
TEX11p.D285Y
Missense
SNP
1.000
NDNDND
TEX12-
-
-
-
1LossND
TEX13Cp.M421I
Missense
SNP
0.994
NDNDND
TEX26-
-
-
-
1LossND
TEX264-
-
-
-
3GainND
TEX29-
-
-
-
1LossND
TEX30-
-
-
-
1LossND
TEX35-
-
-
-
3GainND
TEX43-
-
-
-
1LossND
TEX50-
-
-
-
3GainND
TEX9-
-
-
-
1LossND
TF-
-
-
-
3GainND
TFAP2Bp.H2P
Missense
SNP
0.401
2-ND
TFB1M-
-
-
-
1LossND
TFB2M-
-
-
-
3GainND
TFCP2L1p.Q348*
Nonsense
SNP
0.440
2-ND
TFDP1-
-
-
-
1LossND
TFDP2-
-
-
-
3GainND
TFEC-
-
-
-
3GainND
TFG-
-
-
-
3GainND
TFR2p.R469K
Missense
SNP
0.439
2-ND
TFRC-
-
-
-
3GainND
TGDS-
-
-
-
1LossND
TGFB2-
-
-
-
3GainND
TGFBI-
-
-
-
1LossND
TGFBR2-
-
-
-
3GainND
TGFBR3-
-
-
-
1LossND
TGM4-
-
-
-
3GainND
TGM5p.P688L
Missense
SNP
1.000
1LossND
TGM7-
-
-
-
1LossND
TH-
-
-
-
1LossND
THAP11-
-
-
-
1LossND
THAP12-
-
-
-
1LossND
THAP5-
-
-
-
3GainND
THAP6-
-
-
-
1LossND
THAP9-
-
-
-
1LossND
THBS2-
-
-
-
1LossND
THBS3-
-
-
-
3GainND
THEGLp.X165_splice
Splice_Site
SNP
1.000
1LossND
THEM4-
-
-
-
3GainND
THEM5-
-
-
-
3GainND
THEMIS-
-
-
-
1LossND
THG1L-
-
-
-
1LossND
THOC3-
-
-
-
1LossND
THOC7-
-
-
-
3GainND
THPO-
-
-
-
3GainND
THRB-
-
-
-
3GainND
THRSP-
-
-
-
1LossND
THSD7Bp.S614F
Missense
SNP
0.455
2-ND
THUMPD3-
-
-
-
3GainND
THY1-
-
-
-
1LossND
THYN1-
-
-
-
1LossND
TIAM1p.R1452Q
p.H847Y
Missense
Missense
SNP
SNP
0.483
0.504
2-ND
TIAM2-
-
-
-
1LossND
TIFA-
-
-
-
1LossND
TIFAB-
-
-
-
1LossND
TIGD2-
-
-
-
1LossND
TIGD3-
-
-
-
1LossND
TIGD4-
-
-
-
1LossND
TIGD6-
-
-
-
1LossND
TIGIT-
-
-
-
3GainND
TIMD4-
-
-
-
1LossND
TIMM10-
-
-
-
1LossND
TIMM10B-
-
-
-
1LossND
TIMM17A-
-
-
-
3GainND
TIMM8B-
-
-
-
1LossND
TIMMDC1p.I266F
Missense
SNP
0.644
3GainND
TIMP4-
-
-
-
3GainND
TINAGp.G439R
Missense
SNP
0.442
2-ND
TIPARP-
-
-
-
3GainND
TIPRL-
-
-
-
3GainND
TIRAP-
-
-
-
1LossND
TK2-
-
-
-
1LossND
TKFC-
-
-
-
1LossND
TKT-
-
-
-
3GainND
TKTL2-
-
-
-
1LossND
TLDC1-
-
-
-
1LossND
TLE7-
-
-
-
1LossND
TLL1-
-
-
-
1LossND
TLR2-
-
-
-
1LossND
TLR3-
-
-
-
1LossND
TLR5-
-
-
-
3GainND
TLR9-
-
-
-
3GainND
TLX3-
-
-
-
1LossND
TM4SF1-
-
-
-
3GainND
TM4SF18-
-
-
-
3GainND
TM4SF19-
-
-
-
3GainND
TM4SF19-TCTEX1D2-
-
-
-
3GainND
TM4SF4-
-
-
-
3GainND
TM6SF2p.A351S
Missense
SNP
0.583
2-ND
TM7SF2-
-
-
-
1LossND
TM9SF2-
-
-
-
1LossND
TMA16-
-
-
-
1LossND
TMA7-
-
-
-
3GainND
TMCC1-
-
-
-
3GainND
TMCC2-
-
-
-
3GainND
TMCO1-
-
-
-
3GainND
TMCO3-
-
-
-
1LossND
TMCO6-
-
-
-
1LossND
TMED5-
-
-
-
1LossND
TMED6-
-
-
-
1LossND
TMED7-
-
-
-
1LossND
TMED7-TICAM2-
-
-
-
1LossND
TMED9-
-
-
-
1LossND
TMEM108-
-
-
-
3GainND
TMEM109-
-
-
-
1LossND
TMEM110-MUSTN1-
-
-
-
3GainND
TMEM115-
-
-
-
3GainND
TMEM126A-
-
-
-
1LossND
TMEM126B-
-
-
-
1LossND
TMEM131L-
-
-
-
1LossND
TMEM132A-
-
-
-
1LossND
TMEM132Cp.E560K
Missense
SNP
0.518
2-ND
TMEM132Dp.E556K
Missense
SNP
0.485
2-ND
TMEM134-
-
-
-
1LossND
TMEM135-
-
-
-
1LossND
TMEM136-
-
-
-
1LossND
TMEM138-
-
-
-
1LossND
TMEM139-
-
-
-
3GainND
TMEM140-
-
-
-
3GainND
TMEM144-
-
-
-
1LossND
TMEM150C-
-
-
-
1LossND
TMEM151A-
-
-
-
1LossND
TMEM154-
-
-
-
1LossND
TMEM155-
-
-
-
1LossND
TMEM158-
-
-
-
3GainND
TMEM165-
-
-
-
1LossND
TMEM167B-
-
-
-
1LossND
TMEM168-
-
-
-
3GainND
TMEM170A-
-
-
-
1LossND
TMEM173-
-
-
-
1LossND
TMEM176A-
-
-
-
3GainND
TMEM176B-
-
-
-
3GainND
TMEM178B-
-
-
-
3GainND
TMEM179B-
-
-
-
1LossND
TMEM181-
-
-
-
1LossND
TMEM183A-
-
-
-
3GainND
TMEM184A-
-
-
-
3GainND
TMEM184C-
-
-
-
1LossND
TMEM192-
-
-
-
1LossND
TMEM200A-
-
-
-
1LossND
TMEM206-
-
-
-
3GainND
TMEM207-
-
-
-
3GainND
TMEM208-
-
-
-
1LossND
TMEM209-
-
-
-
3GainND
TMEM212-
-
-
-
3GainND
TMEM213-
-
-
-
3GainND
TMEM216-
-
-
-
1LossND
TMEM218-
-
-
-
1LossND
TMEM223-
-
-
-
1LossND
TMEM225-
-
-
-
1LossND
TMEM229A-
-
-
-
3GainND
TMEM231-
-
-
-
1LossND
TMEM232-
-
-
-
1LossND
TMEM242-
-
-
-
1LossND
TMEM244-
-
-
-
1LossND
TMEM25-
-
-
-
1LossND
TMEM255B-
-
-
-
1LossND
TMEM258-
-
-
-
1LossND
TMEM262-
-
-
-
1LossND
TMEM39A-
-
-
-
3GainND
TMEM40-
-
-
-
3GainND
TMEM41A-
-
-
-
3GainND
TMEM42-
-
-
-
3GainND
TMEM43-
-
-
-
3GainND
TMEM44-
-
-
-
3GainND
TMEM45A-
-
-
-
3GainND
TMEM45B-
-
-
-
1LossND
TMEM54-
-
-
-
4GainND
TMEM56-
-
-
-
1LossND
TMEM56-RWDD3-
-
-
-
1LossND
TMEM62-
-
-
-
1LossND
TMEM63A-
-
-
-
3GainND
TMEM79-
-
-
-
3GainND
TMEM80-
-
-
-
1LossND
TMEM81-
-
-
-
3GainND
TMEM82p.R284H
Missense
SNP
0.495
2-ND
TMEM86A-
-
-
-
3GainND
TMEM87A-
-
-
-
1LossND
TMEM89-
-
-
-
3GainND
TMEM9-
-
-
-
3GainND
TMF1-
-
-
-
3GainND
TMIE-
-
-
-
3GainND
TMIGD3-
-
-
-
1LossND
TMOD2-
-
-
-
1LossND
TMOD3-
-
-
-
1LossND
TMOD4-
-
-
-
3GainND
TMPPE-
-
-
-
3GainND
TMPRSS11A-
-
-
-
1LossND
TMPRSS11B-
-
-
-
1LossND
TMPRSS11D-
-
-
-
1LossND
TMPRSS11E-
-
-
-
1LossND
TMPRSS11F-
-
-
-
1LossND
TMPRSS13-
-
-
-
1LossND
TMPRSS4-
-
-
-
1LossND
TMPRSS5-
-
-
-
1LossND
TMPRSS7-
-
-
-
3GainND
TMTC4-
-
-
-
1LossND
TMUB1-
-
-
-
3GainND
TMX2-
-
-
-
1LossND
TMX2-CTNND1-
-
-
-
1LossND
TNCp.G2068R
Missense
SNP
0.632
2-ND
TNFAIP3-
-
-
-
1LossND
TNFAIP8-
-
-
-
1LossND
TNFAIP8L2-
-
-
-
3GainND
TNFAIP8L3-
-
-
-
1LossND
TNFRSF19-
-
-
-
1LossND
TNFSF10-
-
-
-
3GainND
TNFSF13B-
-
-
-
1LossND
TNFSF18-
-
-
-
3GainND
TNFSF4-
-
-
-
3GainND
TNIK-
-
-
-
3GainND
TNIP1-
-
-
-
1LossND
TNIP3-
-
-
-
1LossND
TNK2-
-
-
-
3GainND
TNKS1BP1-
-
-
-
1LossND
TNN-
-
-
-
3GainND
TNNC1-
-
-
-
3GainND
TNNI1-
-
-
-
3GainND
TNNI2-
-
-
-
1LossND
TNNI3K-
-
-
-
1LossND
TNNT2-
-
-
-
3GainND
TNNT3-
-
-
-
1LossND
TNPO3-
-
-
-
3GainND
TNRp.E455K
Missense
SNP
0.640
3GainND
TNRC18-
-
-
-
3GainND
TNXBp.I3251L
Missense
SNP
0.589
2-ND
TOLLIP-
-
-
-
1LossND
TOMM20-
-
-
-
3GainND
TOMM40L-
-
-
-
3GainND
TOMM70-
-
-
-
3GainND
TOP2B-
-
-
-
3GainND
TOPAZ1-
-
-
-
3GainND
TOPBP1-
-
-
-
3GainND
TOR1AIP1-
-
-
-
3GainND
TOR1AIP2-
-
-
-
3GainND
TOR3A-
-
-
-
3GainND
TOX3-
-
-
-
1LossND
TP53AIP1-
-
-
-
1LossND
TP53BP1-
-
-
-
1LossND
TP53BP2p.L339H
Missense
SNP
0.556
3GainND
TP63-
-
-
-
3GainND
TPBGL-
-
-
-
1LossND
TPCN2-
-
-
-
1LossND
TPD52L1-
-
-
-
1LossND
TPD52L3-
-
-
-
1LossND
TPH1-
-
-
-
3GainND
TPK1-
-
-
-
3GainND
TPM3-
-
-
-
3GainND
TPP1-
-
-
-
1LossND
TPP2-
-
-
-
1LossND
TPPP3-
-
-
-
1LossND
TPR-
-
-
-
3GainND
TPRA1-
-
-
-
3GainND
TPRG1-
-
-
-
3GainND
TPRX1p.W334C
Missense
SNP
0.641
2-ND
TPTE2-
-
-
-
1LossND
TRA2B-
-
-
-
3GainND
TRADD-
-
-
-
1LossND
TRAF3IP2-
-
-
-
1LossND
TRAF3IP3-
-
-
-
3GainND
TRAF5-
-
-
-
3GainND
TRAF6-
-
-
-
3GainND
TRAIP-
-
-
-
3GainND
TRAK1-
-
-
-
3GainND
TRAM1L1-
-
-
-
1LossND
TRANK1-
-
-
-
3GainND
TRAPPC11-
-
-
-
1LossND
TRAPPC2L-
-
-
-
1LossND
TRAPPC3L-
-
-
-
1LossND
TRAPPC4-
-
-
-
1LossND
TRAT1-
-
-
-
3GainND
TRAV12-1p.R22Q
Missense
SNP
0.589
NDNDND
TRDN-
-
-
-
1LossND
TREH-
-
-
-
1LossND
TREX1-
-
-
-
3GainND
TRGC2p.S9F
Missense
SNP
0.557
NDNDND
TRH-
-
-
-
3GainND
TRHRp.M280T
Missense
SNP
0.396
2-ND
TRIM11-
-
-
-
3GainND
TRIM17-
-
-
-
3GainND
TRIM2-
-
-
-
1LossND
TRIM21-
-
-
-
1LossND
TRIM22-
-
-
-
1LossND
TRIM24-
-
-
-
3GainND
TRIM27p.S192F
Missense
DNP
0.443
2-ND
TRIM29-
-
-
-
1LossND
TRIM3-
-
-
-
1LossND
TRIM33-
-
-
-
1LossND
TRIM36-
-
-
-
1LossND
TRIM41-
-
-
-
1LossND
TRIM42-
-
-
-
3GainND
TRIM44-
-
-
-
3GainND
TRIM45-
-
-
-
1LossND
TRIM46-
-
-
-
3GainND
TRIM48-
-
-
-
1LossND
TRIM49-
-
-
-
1LossND
TRIM49Bp.W343*
Nonsense
SNP
0.506
2-ND
TRIM49C-
-
-
-
1LossND
TRIM49D1-
-
-
-
1LossND
TRIM49D2-
-
-
-
1LossND
TRIM5-
-
-
-
1LossND
TRIM51-
-
-
-
1LossND
TRIM52-
-
-
-
1LossND
TRIM58-
-
-
-
3GainND
TRIM59-
-
-
-
3GainND
TRIM6-
-
-
-
1LossND
TRIM6-TRIM34-
-
-
-
1LossND
TRIM60-
-
-
-
1LossND
TRIM61-
-
-
-
1LossND
TRIM62-
-
-
-
4GainND
TRIM64B-
-
-
-
1LossND
TRIM67-
-
-
-
3GainND
TRIM68-
-
-
-
1LossND
TRIM69-
-
-
-
1LossND
TRIM7-
-
-
-
1LossND
TRIM71-
-
-
-
3GainND
TRIM75P-
-
-
-
1LossND
TRIM77p.D346N
Missense
SNP
1.000
1LossND
TRIML1-
-
-
-
1LossND
TRIML2-
-
-
-
1LossND
TRIOBP-
-
-
-
3GainND
TRMT10A-
-
-
-
1LossND
TRMT10C-
-
-
-
3GainND
TRMT11-
-
-
-
1LossND
TRMT112-
-
-
-
1LossND
TRMT13-
-
-
-
1LossND
TRMT1L-
-
-
-
3GainND
TRMT2Ap.A451S
Missense
SNP
0.494
2-ND
TRNT1-
-
-
-
3GainND
TROVE2-
-
-
-
3GainND
TRPC1-
-
-
-
3GainND
TRPC3-
-
-
-
1LossND
TRPC4-
-
-
-
1LossND
TRPC7p.N70T
Missense
SNP
1.000
1LossND
TRPM5-
-
-
-
1LossND
TRPM7-
-
-
-
1LossND
TRPT1-
-
-
-
1LossND
TRPV5-
-
-
-
3GainND
TRPV6p.R532Q
Missense
SNP
0.262
3GainND
TSACC-
-
-
-
3GainND
TSC22D2-
-
-
-
3GainND
TSEN15-
-
-
-
3GainND
TSEN2-
-
-
-
3GainND
TSEN34p.P180S
Missense
SNP
0.459
2-ND
TSG101-
-
-
-
3GainND
TSGA10IP-
-
-
-
1LossND
TSGA13-
-
-
-
3GainND
TSHB-
-
-
-
1LossND
TSHZ2p.E471K
Missense
SNP
0.517
2-ND
TSHZ3p.A908T
Missense
DNP
0.489
2-ND
TSKU-
-
-
-
1LossND
TSLP-
-
-
-
1LossND
TSNAX-
-
-
-
3GainND
TSNAX-DISC1-
-
-
-
3GainND
TSNAXIP1-
-
-
-
1LossND
TSPAN12-
-
-
-
3GainND
TSPAN17-
-
-
-
1LossND
TSPAN2-
-
-
-
1LossND
TSPAN32-
-
-
-
1LossND
TSPAN33-
-
-
-
3GainND
TSPAN4-
-
-
-
1LossND
TSPAN5-
-
-
-
1LossND
TSPO2p.S146L
Missense
SNP
0.511
2-ND
TSPYL1-
-
-
-
1LossND
TSPYL4-
-
-
-
1LossND
TSSC4-
-
-
-
1LossND
TSSK1B-
-
-
-
1LossND
TSTD1-
-
-
-
3GainND
TSTD3-
-
-
-
1LossND
TTBK2-
-
-
-
1LossND
TTC1-
-
-
-
1LossND
TTC12-
-
-
-
1LossND
TTC13-
-
-
-
3GainND
TTC14-
-
-
-
3GainND
TTC21A-
-
-
-
3GainND
TTC24-
-
-
-
3GainND
TTC26-
-
-
-
3GainND
TTC29-
-
-
-
1LossND
TTC36-
-
-
-
1LossND
TTC39B-
-
-
-
1LossND
TTC9C-
-
-
-
1LossND
TTF2-
-
-
-
1LossND
TTLL2-
-
-
-
1LossND
TTLL3-
-
-
-
3GainND
TTLL4p.P127S
Missense
SNP
0.464
2-ND
TTLL7-
-
-
-
1LossND
TTNp.S28038L
p.E26356K
p.E24050K
p.R22855K
p.D21548N
p.X7414_splice
p.P7367S
p.R6703Q
p.D6395N
Missense
Missense
Missense
Missense
Missense
Splice_Site
Missense
Missense
Missense
SNP
SNP
SNP
DNP
SNP
SNP
SNP
SNP
SNP
0.459
0.558
0.446
0.519
0.487
0.532
0.494
0.500
0.452
2-ND
TTYH3-
-
-
-
3GainND
TUBA3C-
-
-
-
1LossND
TUBA3Dp.D39N
Missense
SNP
0.459
2-ND
TUBB3-
-
-
-
1LossND
TUBE1-
-
-
-
1LossND
TUBGCP3-
-
-
-
1LossND
TUBGCP4-
-
-
-
1LossND
TUBGCP5-
-
-
-
1LossND
TUFT1-
-
-
-
3GainND
TULP4-
-
-
-
1LossND
TUSC2-
-
-
-
3GainND
TUT1-
-
-
-
1LossND
TWF2-
-
-
-
3GainND
TXLNB-
-
-
-
1LossND
TXNDC15-
-
-
-
1LossND
TXNIP-
-
-
-
3GainND
TXNL4B-
-
-
-
1LossND
TXNRD3-
-
-
-
3GainND
TYR-
-
-
-
1LossND
TYRP1-
-
-
-
1LossND
TYW3-
-
-
-
1LossND
U2SURPp.P308L
p.G321S
Missense
Missense
SNP
SNP
0.292
0.708
3GainND
UAP1-
-
-
-
3GainND
UBA3-
-
-
-
3GainND
UBA5-
-
-
-
3GainND
UBA6-
-
-
-
1LossND
UBA7-
-
-
-
3GainND
UBAC2-
-
-
-
1LossND
UBAP2p.R650*
Nonsense
SNP
0.448
2-ND
UBAP2L-
-
-
-
3GainND
UBASH3B-
-
-
-
1LossND
UBE2B-
-
-
-
1LossND
UBE2D2-
-
-
-
1LossND
UBE2D3-
-
-
-
1LossND
UBE2E1-
-
-
-
3GainND
UBE2E2-
-
-
-
3GainND
UBE2H-
-
-
-
3GainND
UBE2L5-
-
-
-
1LossND
UBE2L6-
-
-
-
1LossND
UBE2Q1-
-
-
-
3GainND
UBE2T-
-
-
-
3GainND
UBE3A-
-
-
-
1LossND
UBE3C-
-
-
-
3GainND
UBE4A-
-
-
-
1LossND
UBL3-
-
-
-
1LossND
UBL4B-
-
-
-
1LossND
UBLCP1-
-
-
-
1LossND
UBN2-
-
-
-
3GainND
UBP1-
-
-
-
3GainND
UBQLN3-
-
-
-
1LossND
UBQLN4-
-
-
-
3GainND
UBQLNL-
-
-
-
1LossND
UBR1-
-
-
-
1LossND
UBR4p.D4650N
Missense
SNP
0.468
2-ND
UBTD2-
-
-
-
1LossND
UBTFL1-
-
-
-
1LossND
UBXN1-
-
-
-
1LossND
UBXN7-
-
-
-
3GainND
UCHL5-
-
-
-
3GainND
UCK2-
-
-
-
3GainND
UCN2-
-
-
-
3GainND
UEVLD-
-
-
-
3GainND
UFC1-
-
-
-
3GainND
UFL1-
-
-
-
1LossND
UFM1-
-
-
-
1LossND
UFSP2-
-
-
-
1LossND
UGGT1p.A841V
Missense
SNP
0.467
2-ND
UGGT2-
-
-
-
1LossND
UGT2A1-
-
-
-
1LossND
UGT2A2-
-
-
-
1LossND
UGT2A3-
-
-
-
1LossND
UGT2B10-
-
-
-
1LossND
UGT2B11-
-
-
-
1LossND
UGT2B15-
-
-
-
1LossND
UGT2B17-
-
-
-
1LossND
UGT2B28-
-
-
-
1LossND
UGT2B4-
-
-
-
1LossND
UGT2B7-
-
-
-
1LossND
UGT8-
-
-
-
1LossND
UHMK1-
-
-
-
3GainND
UHRF2-
-
-
-
1LossND
UIMC1-
-
-
-
1LossND
ULBP1-
-
-
-
1LossND
ULBP2-
-
-
-
1LossND
ULBP3-
-
-
-
1LossND
ULK1-
-
-
-
1LossND
ULK2p.S506F
Missense
SNP
0.432
2-ND
ULK4-
-
-
-
3GainND
UMAD1-
-
-
-
3GainND
UMPS-
-
-
-
3GainND
UNC13C-
-
-
-
1LossND
UNC5A-
-
-
-
1LossND
UNC5C-
-
-
-
1LossND
UNC80p.E3186K
Missense
SNP
0.473
2-ND
UNC93A-
-
-
-
1LossND
UNC93B1-
-
-
-
1LossND
UNCX-
-
-
-
3GainND
UPF2p.R668C
Missense
SNP
0.389
2-ND
UPF3A-
-
-
-
1LossND
UPK1B-
-
-
-
3GainND
UPK2-
-
-
-
1LossND
UQCC3-
-
-
-
1LossND
UQCRC1-
-
-
-
3GainND
UQCRQ-
-
-
-
1LossND
URAD-
-
-
-
1LossND
URB2-
-
-
-
3GainND
UROC1-
-
-
-
3GainND
USB1-
-
-
-
1LossND
USF1-
-
-
-
3GainND
USF3-
-
-
-
3GainND
USH1Cp.E735K
Missense
SNP
0.574
3GainND
USH2Ap.E2613V
Missense
SNP
0.665
3GainND
USO1-
-
-
-
1LossND
USP10-
-
-
-
1LossND
USP12-
-
-
-
1LossND
USP13-
-
-
-
3GainND
USP16p.L164F
Missense
SNP
0.333
2-ND
USP18p.E108*
Nonsense
SNP
0.410
2-ND
USP19-
-
-
-
3GainND
USP2-
-
-
-
1LossND
USP21-
-
-
-
3GainND
USP28-
-
-
-
1LossND
USP33-
-
-
-
1LossND
USP35-
-
-
-
1LossND
USP4-
-
-
-
3GainND
USP42-
-
-
-
3GainND
USP45-
-
-
-
1LossND
USP46-
-
-
-
1LossND
USP50-
-
-
-
1LossND
USP53-
-
-
-
1LossND
USP6p.P1259F
Missense
DNP
0.518
2-ND
USP8-
-
-
-
1LossND
USPL1-
-
-
-
1LossND
UST-
-
-
-
1LossND
UTP25-
-
-
-
3GainND
UTP3-
-
-
-
1LossND
UTP4-
-
-
-
1LossND
UTRN-
-
-
-
1LossND
UTS2B-
-
-
-
3GainND
UVRAG-
-
-
-
1LossND
VAC14-
-
-
-
1LossND
VAMP4-
-
-
-
3GainND
VANGL1-
-
-
-
1LossND
VANGL2-
-
-
-
3GainND
VASH2-
-
-
-
3GainND
VAT1L-
-
-
-
1LossND
VAV3-
-
-
-
1LossND
VCAM1-
-
-
-
1LossND
VDAC1-
-
-
-
1LossND
VEGFB-
-
-
-
1LossND
VEGFC-
-
-
-
1LossND
VEPH1-
-
-
-
3GainND
VGLL2-
-
-
-
1LossND
VGLL3-
-
-
-
3GainND
VGLL4-
-
-
-
3GainND
VHL-
-
-
-
3GainND
VHLL-
-
-
-
3GainND
VILL-
-
-
-
3GainND
VIP-
-
-
-
1LossND
VIPR1p.E398K
Missense
SNP
0.659
3GainND
VIPR2-
-
-
-
3GainND
VLDLR-
-
-
-
1LossND
VNN1-
-
-
-
1LossND
VNN2-
-
-
-
1LossND
VNN3-
-
-
-
1LossND
VPS11-
-
-
-
1LossND
VPS13Dp.H1369Y
p.K3366I
Missense
Missense
SNP
SNP
0.376
0.487
2-ND
VPS26B-
-
-
-
1LossND
VPS33Bp.L301M
Missense
DNP
0.404
2-ND
VPS35-
-
-
-
1LossND
VPS37C-
-
-
-
1LossND
VPS39-
-
-
-
1LossND
VPS45-
-
-
-
3GainND
VPS4A-
-
-
-
1LossND
VPS51-
-
-
-
1LossND
VPS72-
-
-
-
3GainND
VPS8-
-
-
-
3GainND
VPS9D1-
-
-
-
1LossND
VSIG10L2-
-
-
-
1LossND
VSIG2-
-
-
-
1LossND
VSIG8-
-
-
-
3GainND
VSTM1p.S30F
Missense
SNP
0.450
2-ND
VSTM5-
-
-
-
1LossND
VTA1-
-
-
-
1LossND
VTCN1-
-
-
-
1LossND
VWA5A-
-
-
-
1LossND
VWA5B2-
-
-
-
3GainND
VWA9p.X272_splice
Splice_Site
SNP
0.454
NDNDND
VWCE-
-
-
-
1LossND
VWDEp.L206F
Missense
SNP
0.474
2-ND
WARS2-
-
-
-
1LossND
WASF1-
-
-
-
1LossND
WASF3-
-
-
-
1LossND
WASL-
-
-
-
3GainND
WDFY3-
-
-
-
1LossND
WDFY4p.P1066L
Missense
SNP
0.643
2-ND
WDR17-
-
-
-
1LossND
WDR26p.Q569*
Nonsense
DNP
0.646
3GainND
WDR27-
-
-
-
1LossND
WDR3-
-
-
-
1LossND
WDR36-
-
-
-
1LossND
WDR47-
-
-
-
1LossND
WDR48-
-
-
-
3GainND
WDR49-
-
-
-
3GainND
WDR53-
-
-
-
3GainND
WDR55-
-
-
-
1LossND
WDR59-
-
-
-
1LossND
WDR5B-
-
-
-
3GainND
WDR6-
-
-
-
3GainND
WDR60-
-
-
-
3GainND
WDR63-
-
-
-
1LossND
WDR64-
-
-
-
3GainND
WDR66p.X831_splice
Splice_Site
DNP
0.467
2-ND
WDR72-
-
-
-
1LossND
WDR74-
-
-
-
1LossND
WDR76-
-
-
-
1LossND
WDR77-
-
-
-
1LossND
WDR78-
-
-
-
1LossND
WDR82-
-
-
-
3GainND
WDR86-
-
-
-
3GainND
WDR91-
-
-
-
3GainND
WEE2-
-
-
-
3GainND
WFDC1-
-
-
-
1LossND
WIPI2-
-
-
-
3GainND
WISP3-
-
-
-
1LossND
WLS-
-
-
-
1LossND
WNT11-
-
-
-
1LossND
WNT16-
-
-
-
3GainND
WNT2p.G288S
Missense
DNP
0.657
3GainND
WNT2B-
-
-
-
1LossND
WNT3A-
-
-
-
3GainND
WNT5A-
-
-
-
3GainND
WNT7A-
-
-
-
3GainND
WNT8A-
-
-
-
1LossND
WNT9A-
-
-
-
3GainND
WRNIP1p.X339_splice
Splice_Site
SNP
0.442
2-ND
WT1-
-
-
-
3GainND
WTAP-
-
-
-
1LossND
WWC1-
-
-
-
1LossND
WWC2-
-
-
-
1LossND
WWOX-
-
-
-
1LossND
WWP2-
-
-
-
1LossND
WWTR1-
-
-
-
3GainND
XAGE3p.T8I
Missense
SNP
1.000
NDNDND
XCL1-
-
-
-
3GainND
XCL2-
-
-
-
3GainND
XCR1-
-
-
-
3GainND
XIRP1-
-
-
-
3GainND
XIRP2p.E2400K
Missense
SNP
0.462
2-ND
XPC-
-
-
-
3GainND
XPO4-
-
-
-
1LossND
XPR1-
-
-
-
3GainND
XRCC2-
-
-
-
3GainND
XRN1p.G1128E
Missense
SNP
0.350
3GainND
XRRA1-
-
-
-
1LossND
XXYLT1-
-
-
-
3GainND
XYLB-
-
-
-
3GainND
YARS-
-
-
-
4GainND
YEATS2-
-
-
-
3GainND
YIF1A-
-
-
-
1LossND
YIPF5-
-
-
-
1LossND
YLPM1p.S242F
Missense
SNP
0.476
2-ND
YOD1-
-
-
-
3GainND
YPEL4-
-
-
-
1LossND
YTHDC1-
-
-
-
1LossND
YTHDC2-
-
-
-
1LossND
YY1AP1-
-
-
-
3GainND
Z83844.1-
-
-
-
3GainND
Z83844.3-
-
-
-
3GainND
Z84488.2-
-
-
-
1LossND
Z84492.1-
-
-
-
3GainND
ZANp.L2372F
Missense
DNP
0.330
2-ND
ZAR1L-
-
-
-
1LossND
ZBBX-
-
-
-
3GainND
ZBED2-
-
-
-
3GainND
ZBED6-
-
-
-
3GainND
ZBED6CL-
-
-
-
3GainND
ZBED8-
-
-
-
1LossND
ZBTB11-
-
-
-
3GainND
ZBTB16-
-
-
-
1LossND
ZBTB18-
-
-
-
3GainND
ZBTB2-
-
-
-
1LossND
ZBTB20-
-
-
-
3GainND
ZBTB24-
-
-
-
1LossND
ZBTB3-
-
-
-
1LossND
ZBTB37-
-
-
-
3GainND
ZBTB38-
-
-
-
3GainND
ZBTB41-
-
-
-
3GainND
ZBTB44-
-
-
-
1LossND
ZBTB47-
-
-
-
3GainND
ZBTB7B-
-
-
-
3GainND
ZBTB8A-
-
-
-
4GainND
ZBTB8B-
-
-
-
4GainND
ZBTB8OS-
-
-
-
4GainND
ZC2HC1B-
-
-
-
1LossND
ZC3H11A-
-
-
-
3GainND
ZC3H12C-
-
-
-
1LossND
ZC3H12D-
-
-
-
1LossND
ZC3H18-
-
-
-
1LossND
ZC3HAV1-
-
-
-
3GainND
ZC3HAV1L-
-
-
-
3GainND
ZC3HC1-
-
-
-
3GainND
ZCCHC10-
-
-
-
1LossND
ZCCHC14-
-
-
-
1LossND
ZCWPW2-
-
-
-
3GainND
ZDHHC1-
-
-
-
1LossND
ZDHHC13-
-
-
-
3GainND
ZDHHC14-
-
-
-
1LossND
ZDHHC19-
-
-
-
3GainND
ZDHHC20-
-
-
-
1LossND
ZDHHC21-
-
-
-
1LossND
ZDHHC23-
-
-
-
3GainND
ZDHHC24-
-
-
-
1LossND
ZDHHC3-
-
-
-
3GainND
ZDHHC4-
-
-
-
3GainND
ZDHHC5-
-
-
-
1LossND
ZDHHC7-
-
-
-
1LossND
ZFAND2A-
-
-
-
3GainND
ZFHX3-
-
-
-
1LossND
ZFP1-
-
-
-
1LossND
ZFP2-
-
-
-
1LossND
ZFP42-
-
-
-
1LossND
ZFP62-
-
-
-
1LossND
ZFP90-
-
-
-
1LossND
ZFP91-
-
-
-
1LossND
ZFP91-CNTF-
-
-
-
1LossND
ZFPL1-
-
-
-
1LossND
ZFPM1-
-
-
-
1LossND
ZFYVE1p.K346R
Missense
SNP
0.494
2-ND
ZGRF1-
-
-
-
1LossND
ZIC1-
-
-
-
3GainND
ZIC2-
-
-
-
1LossND
ZIC4-
-
-
-
3GainND
ZIC5-
-
-
-
1LossND
ZKSCAN7-
-
-
-
3GainND
ZMAT2-
-
-
-
1LossND
ZMAT3-
-
-
-
3GainND
ZMYM2p.P1188L
Missense
SNP
1.000
1LossND
ZMYM5-
-
-
-
1LossND
ZMYND10-
-
-
-
3GainND
ZNF10-
-
-
-
1LossND
ZNF106-
-
-
-
1LossND
ZNF12-
-
-
-
3GainND
ZNF124-
-
-
-
3GainND
ZNF136p.H55Y
p.L71F
Missense
Missense
SNP
SNP
0.361
0.496
2-ND
ZNF140-
-
-
-
1LossND
ZNF148-
-
-
-
3GainND
ZNF19-
-
-
-
1LossND
ZNF195-
-
-
-
1LossND
ZNF197-
-
-
-
3GainND
ZNF202-
-
-
-
1LossND
ZNF212-
-
-
-
3GainND
ZNF214-
-
-
-
1LossND
ZNF215-
-
-
-
1LossND
ZNF23-
-
-
-
1LossND
ZNF250p.D34N
Missense
SNP
0.572
2-ND
ZNF26-
-
-
-
1LossND
ZNF268-
-
-
-
1LossND
ZNF276-
-
-
-
1LossND
ZNF277-
-
-
-
3GainND
ZNF280D-
-
-
-
1LossND
ZNF281-
-
-
-
3GainND
ZNF282-
-
-
-
3GainND
ZNF300-
-
-
-
1LossND
ZNF316-
-
-
-
3GainND
ZNF319-
-
-
-
1LossND
ZNF326-
-
-
-
1LossND
ZNF329p.P111S
Missense
SNP
0.428
2-ND
ZNF334p.R592Q
Missense
SNP
0.458
2-ND
ZNF346-
-
-
-
1LossND
ZNF35-
-
-
-
3GainND
ZNF354A-
-
-
-
1LossND
ZNF354Bp.P577Y
Missense
DNP
1.000
1LossND
ZNF354C-
-
-
-
1LossND
ZNF362-
-
-
-
4GainND
ZNF385Bp.P208S
Missense
SNP
0.402
2-ND
ZNF385Dp.F36L
Missense
SNP
0.640
3GainND
ZNF398-
-
-
-
3GainND
ZNF408p.G39D
Missense
SNP
0.458
2-ND
ZNF423-
-
-
-
1LossND
ZNF425-
-
-
-
3GainND
ZNF442p.H566Y
Missense
SNP
0.539
2-ND
ZNF445-
-
-
-
3GainND
ZNF454-
-
-
-
1LossND
ZNF462p.S974F
Missense
DNP
0.456
2-ND
ZNF467-
-
-
-
3GainND
ZNF469-
-
-
-
1LossND
ZNF474-
-
-
-
1LossND
ZNF483p.E89V
Missense
DNP
0.440
2-ND
ZNF486p.H456Y
Missense
SNP
0.509
2-ND
ZNF496p.L198F
Missense
SNP
0.674
3GainND
ZNF501-
-
-
-
3GainND
ZNF502-
-
-
-
3GainND
ZNF560p.R396Q
Missense
SNP
0.466
2-ND
ZNF585Ap.S731F
Missense
SNP
0.476
2-ND
ZNF589-
-
-
-
3GainND
ZNF592p.D702N
Missense
SNP
0.514
2-ND
ZNF593p.R81*
Nonsense
DNP
0.485
2-ND
ZNF605-
-
-
-
1LossND
ZNF608-
-
-
-
1LossND
ZNF619-
-
-
-
3GainND
ZNF620-
-
-
-
3GainND
ZNF621-
-
-
-
3GainND
ZNF639-
-
-
-
3GainND
ZNF644-
-
-
-
1LossND
ZNF648-
-
-
-
3GainND
ZNF654-
-
-
-
3GainND
ZNF660-
-
-
-
3GainND
ZNF662-
-
-
-
3GainND
ZNF667p.H194Y
Missense
SNP
0.427
2-ND
ZNF669-
-
-
-
3GainND
ZNF670-
-
-
-
3GainND
ZNF670-ZNF695-
-
-
-
3GainND
ZNF672-
-
-
-
3GainND
ZNF678-
-
-
-
3GainND
ZNF687-
-
-
-
3GainND
ZNF692-
-
-
-
3GainND
ZNF695-
-
-
-
3GainND
ZNF717-
-
-
-
3GainND
ZNF746-
-
-
-
3GainND
ZNF766p.P382F
Missense
DNP
0.475
2-ND
ZNF770p.S445L
p.S434L
Missense
Missense
SNP
SNP
0.395
0.448
2-ND
ZNF775-
-
-
-
3GainND
ZNF777-
-
-
-
3GainND
ZNF778-
-
-
-
1LossND
ZNF780Bp.H709Y
Missense
SNP
0.491
2-ND
ZNF783p.R359C
Missense
DNP
0.718
3GainND
ZNF786p.P307S
Missense
SNP
0.673
3GainND
ZNF80-
-
-
-
3GainND
ZNF800-
-
-
-
3GainND
ZNF821-
-
-
-
1LossND
ZNF827-
-
-
-
1LossND
ZNF831p.T342I
Missense
DNP
0.463
2-ND
ZNF84-
-
-
-
1LossND
ZNF852-
-
-
-
3GainND
ZNF853-
-
-
-
3GainND
ZNF860-
-
-
-
3GainND
ZNF862-
-
-
-
3GainND
ZNF879-
-
-
-
1LossND
ZNF891-
-
-
-
1LossND
ZNHIT2-
-
-
-
1LossND
ZNHIT6-
-
-
-
1LossND
ZNRF1-
-
-
-
1LossND
ZP1-
-
-
-
1LossND
ZP4-
-
-
-
3GainND
ZPLD1p.G393R
Missense
SNP
0.375
3GainND
ZPR1-
-
-
-
1LossND
ZRANB2-
-
-
-
1LossND
ZSCAN20-
-
-
-
4GainND
ZSCAN29-
-
-
-
1LossND
ZSWIM2p.R603Q
Missense
SNP
0.529
2-ND
ZUP1-
-
-
-
1LossND
ZW10-
-
-
-
1LossND
ZXDC-
-
-
-
3GainND
ZYX-
-
-
-
3GainND