PDMR-261386~189-R~N70P05-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AANAT-
-
-
-
3Gain-
AAR2-
-
-
-
3Gain-
AARS-
-
-
-
1Loss-
AARS2-
-
-
-
6Amp-
AASS-
-
-
-
3Gain-
AATK-
-
-
-
3Gain-
ABAT-
-
-
-
3Gain-
ABCA13-
-
-
-
3Gain-
ABCB10-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
3Gain-
ABCC10-
-
-
-
6Amp-
ABCF1-
-
-
-
5Amp-
ABCF2-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABHD16A-
-
-
-
5Amp-
ABHD3-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABRACL-
-
-
-
3Gain-
ABT1-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002996.1-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005837.2-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC007375.1-
-
-
-
3Gain-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC008758.1-
-
-
-
3Gain-
AC008758.4-
-
-
-
3Gain-
AC008758.5-
-
-
-
3Gain-
AC008758.6-
-
-
-
3Gain-
AC008770.1-
-
-
-
3Gain-
AC008770.2-
-
-
-
3Gain-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC010132.3-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC010487.3-
-
-
-
3Gain-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010615.4-
-
-
-
3Gain-
AC011005.1-
-
-
-
3Gain-
AC012184.2-
-
-
-
1Loss-
AC012309.1-
-
-
-
3Gain-
AC018554.3-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022414.1-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC037459.1-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC046185.1-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC068580.4-
-
-
-
1Loss-
AC069257.3-
-
-
-
4Gain-
AC069503.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC091959.3-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092143.1-
-
-
-
1Loss-
AC092329.3-
-
-
-
3Gain-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093227.2-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC099850.2-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
3Gain-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC104581.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107959.5-
-
-
-
1Loss-
AC112504.2-
-
-
-
3Gain-
AC113348.2-
-
-
-
1Loss-
AC113554.1-
-
-
-
3Gain-
AC115220.1-
-
-
-
3Gain-
AC118470.1-
-
-
-
3Gain-
AC127029.3-
-
-
-
3Gain-
AC131097.2-
-
-
-
1Loss-
AC137834.1-
-
-
-
3Gain-
AC139491.7-
-
-
-
1Loss-
AC139530.2-
-
-
-
3Gain-
AC140504.1-
-
-
-
3Gain-
AC144573.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC244517.10-
-
-
-
1Loss-
ACAA1-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACAD11-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACADS-
-
-
-
3Gain-
ACAT2-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACD-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACKR4-
-
-
-
3Gain-
ACOT12-
-
-
-
1Loss-
ACOT13-
-
-
-
3Gain-
ACOT8-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACPP-
-
-
-
3Gain-
ACSF3-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACTA1-
-
-
-
3Gain-
ACTA2-
-
-
-
1Loss-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
1Loss-
ACTG1-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTN1-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR5-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM18-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM30-
-
-
-
3Gain-
ADAM32-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS14-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS4-
-
-
-
5Amp-
ADAMTS6-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAP1-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADAT1-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY10p.I1575M
Missense
SNP
0.340
3Gain-
ADCYAP1-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADGB-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRB3-
-
-
-
1Loss-
ADGRF1-
-
-
-
3Gain-
ADGRF2-
-
-
-
3Gain-
ADGRF4-
-
-
-
3Gain-
ADGRF5-
-
-
-
3Gain-
ADGRG6-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADIG-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADORA1-
-
-
-
3Gain-
ADORA3-
-
-
-
3Gain-
ADRA1A-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
ADSSL1-
-
-
-
3Gain-
ADTRP-
-
-
-
1Loss-
AEBP1-
-
-
-
3Gain-
AES-
-
-
-
3Gain-
AFAP1L2-
-
-
-
1Loss-
AFDN-
-
-
-
3Gain-
AFF4-
-
-
-
3Gain-
AFG1L-
-
-
-
1Loss-
AFG3L2-
-
-
-
3Gain-
AFMID-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL1-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGER-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGPAT1-
-
-
-
3Gain-
AGPAT4-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AGTPBP1p.Q597E
Missense
SNP
0.355
2--
AGTR1-
-
-
-
3Gain-
AGXT-
-
-
-
1Loss-
AHCTF1-
-
-
-
3Gain-
AHCYL1-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHI1-
-
-
-
3Gain-
AHNAK2-
-
-
-
3Gain-
AHR-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIF1-
-
-
-
5Amp-
AIFM2-
-
-
-
1Loss-
AIG1-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIMP2-
-
-
-
3Gain-
AK6-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAIN1-
-
-
-
3Gain-
AKAP12-
-
-
-
3Gain-
AKAP5-
-
-
-
3Gain-
AKAP7-
-
-
-
1Loss-
AKAP9-
-
-
-
3Gain-
AKIRIN2-
-
-
-
1Loss-
AKNAD1-
-
-
-
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKT1-
-
-
-
3Gain-
AKT3-
-
-
-
3Gain-
AL020996.2-
-
-
-
3Gain-
AL021546.1-
-
-
-
3Gain-
AL021997.3-
-
-
-
3Gain-
AL022318.4-
-
-
-
3Gain-
AL024498.2-
-
-
-
1Loss-
AL031315.1-
-
-
-
3Gain-
AL031777.3-
-
-
-
3Gain-
AL049557.1-
-
-
-
3Gain-
AL049697.1-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096814.1-
-
-
-
6Amp-
AL109827.1-
-
-
-
3Gain-
AL117348.2-
-
-
-
3Gain-
AL132671.2-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDAL139099.4--RPS7P1
AL139142.2-
-
-
-
3Gain-
AL159163.1-
-
-
-
3Gain-
AL353588.1-
-
-
-
6Amp-
AL355312.5-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL365205.1-
-
-
-
3Gain-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL449266.1-
-
-
-
3Gain-
AL512428.1-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL589666.1-
-
-
-
1Loss-
AL590132.1-
-
-
-
3Gain-
AL590240.1-
-
-
-
NDNDAL590240.1--XAGE2
AL591806.3-
-
-
-
8Amp-
AL603832.3-
-
-
-
3Gain-
AL645922.1-
-
-
-
3Gain-
AL645941.2-
-
-
-
3Gain-
AL662884.4-
-
-
-
3Gain-
AL662899.1-
-
-
-
5Amp-
AL662899.2-
-
-
-
5Amp-
AL669918.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALAD-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH5A1-
-
-
-
3Gain-
ALDH7A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALKBH4-
-
-
-
3Gain-
ALMS1p.E3712Q
Missense
SNP
0.364
2--
ALOX12B-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALS2CL-
-
-
-
3Gain-
ALX3-
-
-
-
3Gain-
ALYREF-
-
-
-
3Gain-
AMBP-
-
-
-
3Gain-
AMD1-
-
-
-
1Loss-
AMIGO1-
-
-
-
3Gain-
AMPD1-
-
-
-
5Amp-
AMPD2-
-
-
-
3Gain-
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANAPC11-
-
-
-
3Gain-
ANAPC16-
-
-
-
3Gain-
ANAPC5-
-
-
-
3Gain-
ANGEL2-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPTL1-
-
-
-
3Gain-
ANGPTL2-
-
-
-
3Gain-
ANK3p.S39C
Missense
SNP
0.193
2--
ANKDD1B-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKMY1-
-
-
-
1Loss-
ANKMY2-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD12-
-
-
-
3Gain-
ANKRD13D-
-
-
-
3Gain-
ANKRD29-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD31-
-
-
-
1Loss-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
5Amp-
ANKRD55-
-
-
-
1Loss-
ANKRD6-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD62-
-
-
-
3Gain-
ANKRD66-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKS1A-
-
-
-
3Gain-
ANKUB1-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO7-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANXA4-
-
-
-
3Gain-
ANXA6-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP000721.1-
-
-
-
3Gain-
AP1B1-
-
-
-
5Amp-
AP1G1-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP2A2-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3D1-
-
-
-
3Gain-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
3Gain-
AP4B1-
-
-
-
3Gain-
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APBB1-
-
-
-
1Loss-
APBB2-
-
-
-
3Gain-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APCDD1-
-
-
-
3Gain-
APCS-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APOA2-
-
-
-
5Amp-
APOBEC2-
-
-
-
3Gain-
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3H-
-
-
-
3Gain-
APOBEC4-
-
-
-
3Gain-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOM-
-
-
-
5Amp-
APRT-
-
-
-
1Loss-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFGEF3-
-
-
-
3Gain-
ARFIP2-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARHGAP18-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP28-
-
-
-
3Gain-
ARHGAP30-
-
-
-
8Amp-
ARHGAP40-
-
-
-
3Gain-
ARHGDIA-
-
-
-
3Gain-
ARHGEF10-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12p.D1071H
Missense
SNP
0.267
2--
ARHGEF2-
-
-
-
6Amp-
ARHGEF26-
-
-
-
3Gain-
ARHGEF28-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARID1Ap.C1981*
Nonsense
SNP
0.625
2--
ARID1B-
-
-
-
3Gain-
ARID4B-
-
-
-
3Gain-
ARL10-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL16-
-
-
-
3Gain-
ARL4A-
-
-
-
3Gain-
ARL6IP4p.S275W
Missense
SNP
0.158
3Gain-
ARL8A-
-
-
-
5Amp-
ARMC10-
-
-
-
3Gain-
ARMC12-
-
-
-
3Gain-
ARMC2-
-
-
-
1Loss-
ARMH2-
-
-
-
3Gain-
ARMT1-
-
-
-
3Gain-
ARNT-
-
-
-
3Gain-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
3Gain-
ARRDC3-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
ASAH1-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASCC1-
-
-
-
3Gain-
ASCC2-
-
-
-
5Amp-
ASCC3-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASH1L-
-
-
-
6Amp-
ASH2L-
-
-
-
1Loss-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASPRV1-
-
-
-
3Gain-
ASPSCR1-
-
-
-
3Gain-
ASTE1-
-
-
-
3Gain-
ASTN1-
-
-
-
3Gain-
ASXL1p.G645Vfs*58
Frame_Shift_Del
DEL
0.453
2--
ASZ1-
-
-
-
3Gain-
ATAT1-
-
-
-
5Amp-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATF6B-
-
-
-
3Gain-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG14-
-
-
-
3Gain-
ATG4B-
-
-
-
1Loss-
ATG5-
-
-
-
1Loss-
ATG7-
-
-
-
3Gain-
ATG9B-
-
-
-
3Gain-
ATMIN-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP1A1-
-
-
-
3Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
3Gain-
ATP2B2p.V194M
Missense
SNP
0.266
2--
ATP2B4-
-
-
-
3Gain-
ATP2C1-
-
-
-
3Gain-
ATP2C2-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5PB-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G2-
-
-
-
5Amp-
ATP6V1G2-DDX39B-
-
-
-
5Amp-
ATP6V1G3-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATR-
-
-
-
3Gain-
ATRNL1-
-
-
-
1Loss-
ATXN1-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN2-
-
-
-
3Gain-
ATXN7L1-
-
-
-
3Gain-
ATXN7L2-
-
-
-
3Gain-
AUNIP-
-
-
-
3Gain-
AUTS2p.P469T
Missense
SNP
0.197
3Gain-
AVL9-
-
-
-
3Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AZGP1-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2p.W296R
Missense
SNP
0.215
3Gain-
B3GALT4-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
1Loss-
B3GNT4-
-
-
-
3Gain-
B3GNT9-
-
-
-
1Loss-
B3GNTL1-
-
-
-
3Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT3-
-
-
-
5Amp-
B4GALT5-
-
-
-
3Gain-
B4GALT7-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BACH2-
-
-
-
1Loss-
BAD-
-
-
-
3Gain-
BAG2-
-
-
-
4Gain-
BAG4-
-
-
-
1Loss-
BAG6-
-
-
-
5Amp-
BAHCC1-
-
-
-
3Gain-
BAIAP2-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BAK1-
-
-
-
3Gain-
BANP-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BAZ2Ap.S26C
Missense
SNP
0.086
2--
BBS9-
-
-
-
3Gain-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAS2-
-
-
-
5Amp-
BCAS4-
-
-
-
3Gain-
BCKDHB-
-
-
-
1Loss-
BCL2L15-
-
-
-
3Gain-
BCL7A-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCLAF1-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BDP1-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEND3-
-
-
-
1Loss-
BEND6-
-
-
-
4Gain-
BET1-
-
-
-
3Gain-
BET1L-
-
-
-
1Loss-
BGLAP-
-
-
-
4Gain-
BHLHA15-
-
-
-
3Gain-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICDL1-
-
-
-
3Gain-
BICRAL-
-
-
-
3Gain-
BIN3-
-
-
-
1Loss-
BIRC5-
-
-
-
3Gain-
BIRC8-
-
-
-
3Gain-
BLCAP-
-
-
-
3Gain-
BLK-
-
-
-
1Loss-
BLOC1S5-
-
-
-
1Loss-
BLOC1S5-TXNDC5-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BLZF1-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BMP5-
-
-
-
4Gain-
BMP6-
-
-
-
1Loss-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNIP3L-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOP1-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPHL-
-
-
-
1Loss-
BPI-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BRAF-
-
-
-
3Gain-
BRAP-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD2-
-
-
-
3Gain-
BRD8-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRI3-
-
-
-
3Gain-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRPF3-
-
-
-
3Gain-
BRSK2-
-
-
-
1Loss-
BSPRY-
-
-
-
3Gain-
BTBD2-
-
-
-
3Gain-
BTBD9-
-
-
-
3Gain-
BTF3-
-
-
-
1Loss-
BTG2-
-
-
-
3Gain-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
3Gain-
BTN3A1-
-
-
-
3Gain-
BTN3A2-
-
-
-
3Gain-
BTN3A3-
-
-
-
3Gain-
BTNL2-
-
-
-
3Gain-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BVES-
-
-
-
1Loss-
BYSL-
-
-
-
6Amp-
BZW2-
-
-
-
3Gain-
C10orf105-
-
-
-
3Gain-
C10orf99-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf80-
-
-
-
2-IPO7--C11orf80
C11orf86-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C15orf38-AP3S2-
-
-
-
3Gain-
C16orf45-
-
-
-
3Gain-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
3Gain-
C16orf95-
-
-
-
1Loss-
C17orf99-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf162-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
4Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QTNF1-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C2-
-
-
-
3Gain-
C22orf31-
-
-
-
5Amp-
C2CD4D-
-
-
-
3Gain-
C2orf42-
-
-
-
3Gain-
C2orf49-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C4A-
-
-
-
3Gain-
C4B-
-
-
-
3Gain-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6orf10-
-
-
-
3Gain-
C6orf106-
-
-
-
3Gain-
C6orf118-
-
-
-
3Gain-
C6orf120-
-
-
-
3Gain-
C6orf132-
-
-
-
6Amp-
C6orf136-
-
-
-
5Amp-
C6orf141-
-
-
-
1Loss-
C6orf15-
-
-
-
5Amp-
C6orf163-
-
-
-
1Loss-
C6orf201-
-
-
-
1Loss-
C6orf203-
-
-
-
1Loss-
C6orf222-
-
-
-
3Gain-
C6orf223-
-
-
-
6Amp-
C6orf226-
-
-
-
3Gain-
C6orf47-
-
-
-
5Amp-
C6orf48-
-
-
-
3Gain-
C6orf52-
-
-
-
1Loss-
C6orf62-
-
-
-
3Gain-
C6orf89-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf86-
-
-
-
1Loss-
C9orf43-
-
-
-
3Gain-
C9orf84-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
3Gain-
CA7-
-
-
-
1Loss-
CABLES1-
-
-
-
5Amp-
CABP1-
-
-
-
3Gain-
CABP7-
-
-
-
5Amp-
CABYR-
-
-
-
3Gain-
CACNA1E-
-
-
-
3Gain-
CACNA1I-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNG2-
-
-
-
3Gain-
CACYBP-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CAGE1-
-
-
-
1Loss-
CALB2-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM1-
-
-
-
3Gain-
CALHM3-
-
-
-
3Gain-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAMK4-
-
-
-
1Loss-
CAMKK2-
-
-
-
3Gain-
CAMLG-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CAND2-
-
-
-
3Gain-
CANT1-
-
-
-
3Gain-
CANX-
-
-
-
1Loss-
CAP2-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPN11-
-
-
-
6Amp-
CAPN2-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPZA1-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD14-
-
-
-
3Gain-
CARHSP1-
-
-
-
3Gain-
CARMIL1-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASP8AP2-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASQ2-
-
-
-
3Gain-
CAST-
-
-
-
1Loss-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATSPER3-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERGp.K176N
Missense
SNP
0.167
2--
CATSPERZ-
-
-
-
3Gain-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBX2-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CBX4-
-
-
-
3Gain-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBX8-
-
-
-
3Gain-
CBY3-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC102Ap.E261K
Missense
SNP
0.457
2--
CCDC112-
-
-
-
1Loss-
CCDC116-
-
-
-
3Gain-
CCDC117-
-
-
-
5Amp-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC137-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC152p.E33Q
Missense
SNP
0.821
2--
CCDC167-
-
-
-
3Gain-
CCDC170-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC25-
-
-
-
1Loss-
CCDC28A-
-
-
-
3Gain-
CCDC40-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC57-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC69-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC88B-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCHCR1-
-
-
-
5Amp-
CCKBR-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNB1-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCND3-
-
-
-
6Amp-
CCNG1-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
3Gain-
CCNJL-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNO-
-
-
-
1Loss-
CCR1-
-
-
-
3Gain-
CCR2-
-
-
-
3Gain-
CCR3-
-
-
-
3Gain-
CCR5-
-
-
-
3Gain-
CCR6-
-
-
-
3Gain-
CCR9-
-
-
-
3Gain-
CCRL2-
-
-
-
3Gain-
CCSAP-
-
-
-
3Gain-
CCSER2-
-
-
-
1Loss-
CCT3-
-
-
-
4Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
3Gain-
CD109-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD164-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD2-
-
-
-
3Gain-
CD244-
-
-
-
5Amp-
CD247-
-
-
-
3Gain-
CD2AP-
-
-
-
3Gain-
CD34-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
5Amp-
CD53-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD58-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD7-
-
-
-
3Gain-
CD74-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD83-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC26-
-
-
-
3Gain-
CDC40-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC42SE2-
-
-
-
1Loss-
CDC5L-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA4-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDCP1-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH11-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH23-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDHR1-
-
-
-
1Loss-
CDHR2-
-
-
-
1Loss-
CDHR3-
-
-
-
3Gain-
CDHR5-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK18-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK2AP1-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDKAL1-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1A-
-
-
-
3Gain-
CDKN1C-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDSN-
-
-
-
5Amp-
CDT1-
-
-
-
1Loss-
CDYL-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEBPB-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF5-
-
-
-
3Gain-
CELSR2-
-
-
-
3Gain-
CEND1-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPL-
-
-
-
3Gain-
CENPN-
-
-
-
1Loss-
CENPQ-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPW-
-
-
-
1Loss-
CENPX-
-
-
-
3Gain-
CEP120-
-
-
-
1Loss-
CEP131-
-
-
-
3Gain-
CEP162-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP170B-
-
-
-
3Gain-
CEP19-
-
-
-
4Gain-
CEP192-
-
-
-
3Gain-
CEP295NL-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP57L1-
-
-
-
1Loss-
CEP72p.E286Q
Missense
SNP
0.323
2--
CEP76-
-
-
-
3Gain-
CEP85L-
-
-
-
1Loss-
CEPT1-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CETN1-
-
-
-
3Gain-
CETN3-
-
-
-
1Loss-
CFAP126-
-
-
-
3Gain-
CFAP157-
-
-
-
3Gain-
CFAP206-
-
-
-
1Loss-
CFAP43-
-
-
-
3Gain-
CFAP45-
-
-
-
3Gain-
CFB-
-
-
-
3Gain-
CFDP1-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CH25H-
-
-
-
1Loss-
CHCHD3-
-
-
-
3Gain-
CHCHD5-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHI3L1-
-
-
-
3Gain-
CHI3L2-
-
-
-
3Gain-
CHIA-
-
-
-
3Gain-
CHID1-
-
-
-
1Loss-
CHIT1-
-
-
-
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP1B-
-
-
-
3Gain-
CHMP6-
-
-
-
3Gain-
CHMP7-
-
-
-
1Loss-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHRDp.R491Q
Missense
SNP
0.343
2--
CHRM2-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CHST3-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CHURC1-
-
-
-
3Gain-
CHURC1-FNTB-
-
-
-
3Gain-
CIAO2B-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
3Gain-
CIDEA-
-
-
-
3Gain-
CIPC-
-
-
-
3Gain-
CITED2-
-
-
-
3Gain-
CKAP2L-
-
-
-
3Gain-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLBA1-
-
-
-
3Gain-
CLCC1-
-
-
-
3Gain-
CLCF1-
-
-
-
3Gain-
CLCN1-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN17p.E44Q
Missense
SNP
0.362
2--
CLDN20-
-
-
-
3Gain-
CLDN23-
-
-
-
1Loss-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC3B-
-
-
-
3Gain-
CLEC5A-
-
-
-
3Gain-
CLIC1-
-
-
-
5Amp-
CLIC4-
-
-
-
3Gain-
CLIC5-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLIP1-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLK2-
-
-
-
5Amp-
CLK4-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLP1p.R116Q
Missense
SNP
0.314
2--
CLPS-
-
-
-
3Gain-
CLPSL1-
-
-
-
3Gain-
CLPSL2-
-
-
-
3Gain-
CLRN1-
-
-
-
3Gain-
CLTB-
-
-
-
1Loss-
CLTC-
-
-
-
3Gain-
CLU-
-
-
-
1Loss-
CLUL1-
-
-
-
3Gain-
CLVS2-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR1-
-
-
-
1LossTBC1D22B--CMTR1
CMTR2-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNBD2p.S265L
Missense
SNP
0.221
3Gain-
CNGA4-
-
-
-
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR3-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNOT6-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY3-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNR1-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTNAP2-
-
-
-
3Gain-
CNTNAP4-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG8-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL11A2-
-
-
-
3Gain-
COL12A1-
-
-
-
1Loss-
COL13A1-
-
-
-
1Loss-
COL17A1-
-
-
-
3Gain-
COL19A1-
-
-
-
1Loss-
COL1A2-
-
-
-
3Gain-
COL21A1-
-
-
-
4Gain-
COL23A1-
-
-
-
1Loss-
COL26A1-
-
-
-
3Gain-
COL27A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL4A3BP-
-
-
-
1Loss-
COL5A2-
-
-
-
1Loss-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL9A1p.R843H
Missense
SNP
0.448
1Loss-
COLEC12-
-
-
-
3Gain-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
3Gain-
COMMD10-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COP1-
-
-
-
4Gain-
COPA-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COPS9-
-
-
-
1Loss-
COQ3-
-
-
-
1Loss-
COQ5-
-
-
-
3Gain-
COQ8A-
-
-
-
3Gain-
COTL1-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX6A1-
-
-
-
3Gain-
COX7A2-
-
-
-
1Loss-
COX7C-
-
-
-
1Loss-
COX8A-
-
-
-
3Gain-
CP-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLX2-
-
-
-
1Loss-
CPNE1-
-
-
-
3Gain-
CPNE5-
-
-
-
3Gain-
CPNE7-
-
-
-
1Loss-
CPSF4-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRB1-
-
-
-
3Gain-
CRCP-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CRHBP-
-
-
-
1Loss-
CRHR2-
-
-
-
3Gain-
CRIP3-
-
-
-
6Amp-
CRISP1-
-
-
-
1Loss-
CRISP2-
-
-
-
1Loss-
CRISP3-
-
-
-
1Loss-
CRISPLD2-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC2-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRYBG1-
-
-
-
1Loss-
CRYGN-
-
-
-
3Gain-
CSDE1-
-
-
-
5Amp-
CSE1L-
-
-
-
3Gain-
CSF1-
-
-
-
3Gain-
CSF2-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSMD1-
-
-
-
1Loss-
CSNK1D-
-
-
-
3Gain-
CSNK1G3-
-
-
-
1Loss-
CSNK2B-
-
-
-
5Amp-
CSRP1-
-
-
-
3Gain-
CTAGE1-
-
-
-
3Gain-
CTAGE15-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE6-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTAGE9-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTDSPL-
-
-
-
3Gain-
CTGF-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
3Gain-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTTNBP2-
-
-
-
3Gain-
CTTNBP2NL-
-
-
-
3Gain-
CTU2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL7-
-
-
-
3Gain-
CUL9-
-
-
-
3Gain-
CUTA-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CUX2-
-
-
-
3Gain-
CWC27-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCR6-
-
-
-
3Gain-
CYB561D1-
-
-
-
3Gain-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R2-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYBC1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYGB-
-
-
-
3Gain-
CYP1B1p.D291N
Missense
SNP
0.364
2--
CYP21A2-
-
-
-
3Gain-
CYP2C18p.R261W
Missense
SNP
0.235
2--
CYP2W1-
-
-
-
3Gain-
CYP39A1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH1-
-
-
-
3Gain-
CYTH3-
-
-
-
3GainCYTH3--HDAC9
D2HGDH-
-
-
-
1Loss-
DAAM2-
-
-
-
3Gain-
DACT2-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DAP3-
-
-
-
6Amp-
DARS2-
-
-
-
3Gain-
DAXX-
-
-
-
3Gain-
DBN1-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DCAF5-
-
-
-
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF7-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCAF8L2p.E619K
Missense
SNP
0.375
NDND-
DCANP1-
-
-
-
1Loss-
DCBLD1-
-
-
-
1Loss-
DCDC2-
-
-
-
3Gain-
DCHS1-
-
-
-
1Loss-
DCLRE1B-
-
-
-
3Gain-
DCP2-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCTN4-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCXR-
-
-
-
3Gain-
DDAH2-
-
-
-
5Amp-
DDC-
-
-
-
3Gain-
DDHD2-
-
-
-
1Loss-
DDIT4-
-
-
-
3Gain-
DDO-
-
-
-
1Loss-
DDR1-
-
-
-
5Amp-
DDR2-
-
-
-
3Gain-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX20-
-
-
-
3Gain-
DDX27-
-
-
-
3Gain-
DDX28-
-
-
-
1Loss-
DDX39B-
-
-
-
5Amp-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX42-
-
-
-
3Gain-
DDX43-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX5-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX59-
-
-
-
3Gain-
DEAF1-
-
-
-
1Loss-
DEDD-
-
-
-
8Amp-
DEF6-
-
-
-
3Gain-
DEF8-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB110-
-
-
-
1Loss-
DEFB112-
-
-
-
1Loss-
DEFB113-
-
-
-
1Loss-
DEFB114-
-
-
-
1Loss-
DEFB133-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DEGS2p.R158C
Missense
SNP
0.249
2--
DEK-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND2C-
-
-
-
5Amp-
DENND2D-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4Cp.R1677T
Missense
SNP
0.218
2--
DENR-
-
-
-
3Gain-
DEPDC1B-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKIp.V918M
Missense
SNP
0.432
3Gain-
DHFR-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHX16-
-
-
-
5Amp-
DHX29-
-
-
-
1Loss-
DHX36p.G604E
Missense
SNP
0.223
3Gain-
DHX38-
-
-
-
1Loss-
DHX40-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DLC1-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLEC1-
-
-
-
3Gain-
DLG1-
-
-
-
3Gain-
DLGAP1-
-
-
-
3Gain-
DLGAP2-
-
-
-
1Loss-
DLGAP4-
-
-
-
3Gain-
DLGAP5-
-
-
-
3Gain-
DLK2-
-
-
-
6Amp-
DLL1-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMGDH-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH10-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH17-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH8-
-
-
-
3Gain-
DNAJA2-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC13-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC4-
-
-
-
3Gain-
DNAL4-
-
-
-
3Gain-
DND1-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM2p.K508N
Missense
SNP
0.242
2--
DNM3-
-
-
-
3Gain-
DNPH1-
-
-
-
3Gain-
DNTTIP1-
-
-
-
3Gain-
DOCK2-
-
-
-
1Loss-
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK3-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP6-
-
-
-
3Gain-
DPPA5-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DPYSL3-
-
-
-
1Loss-
DRAM2-
-
-
-
3Gain-
DRD1-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DSCAML1p.E1109K
Missense
SNP
0.305
1Loss-
DSE-
-
-
-
1Loss-
DSN1-
-
-
-
3Gain-
DSP-
-
-
-
1Loss-
DST-
-
-
-
4Gain-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNBP1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DTYMK-
-
-
-
1Loss-
DUS1L-
-
-
-
3Gain-
DUS2-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP22-
-
-
-
1Loss-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP27-
-
-
-
3Gain-
DUSP28-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DXO-
-
-
-
3Gain-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI2-
-
-
-
1Loss-
DYNLL1-
-
-
-
3Gain-
DYNLRB2-
-
-
-
1Loss-
DYNLT1-
-
-
-
3Gain-
DYRK3-
-
-
-
3Gain-
E2F3-
-
-
-
1Loss-
E2F4-
-
-
-
1Loss-
EAF1-
-
-
-
3Gain-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
ECI2-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECT2L-
-
-
-
3Gain-
EDARADD-
-
-
-
3Gain-
EDC4-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EDIL3-
-
-
-
1Loss-
EDN1-
-
-
-
1Loss-
EEF1A1-
-
-
-
1Loss-
EEF1A2-
-
-
-
3Gain-
EEF1E1-
-
-
-
1Loss-
EEF1E1-BLOC1S5-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB9-
-
-
-
1Loss-
EFHBp.R311T
Missense
SNP
0.232
2--
EFHC1-
-
-
-
4Gain-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EGFL8-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EGR1-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHMT2-
-
-
-
3Gain-
EIF2A-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2B1-
-
-
-
3Gain-
EIF2D-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3D-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF4A3-
-
-
-
3Gain-
EIF4E1B-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
ELF3-
-
-
-
5Amp-
ELFN1-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ELL2-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO3-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOVL2-
-
-
-
1Loss-
ELOVL4-
-
-
-
1Loss-
ELOVL5-
-
-
-
4Gain-
ELOVL7-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMID1-
-
-
-
5Amp-
EMILIN2-
-
-
-
3Gain-
EML6p.R370C
Missense
SNP
0.400
2--
EN2-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENDOV-
-
-
-
3Gain-
ENGASE-
-
-
-
3Gain-
ENKD1-
-
-
-
1Loss-
ENO1-
-
-
-
3Gain-
ENOSF1-
-
-
-
3Gain-
ENPP1-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP4-
-
-
-
3Gain-
ENPP5-
-
-
-
3Gain-
ENPP7-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
3Gain-
ENTPD4-
-
-
-
1Loss-
EPB41L1-
-
-
-
3Gain-
EPB41L2-
-
-
-
1Loss-
EPB41L3-
-
-
-
3Gain-
EPB41L4A-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA7-
-
-
-
1Loss-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPM2A-
-
-
-
4Gain-
EPM2AIP1-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
EPS8L2-
-
-
-
1Loss-
EPS8L3-
-
-
-
3Gain-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH6-
-
-
-
3Gain-
ERLIN2-
-
-
-
1Loss-
ERMARD-
-
-
-
3Gain-
ERN1-
-
-
-
3Gain-
ERO1B-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
1Loss-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESCO1-
-
-
-
3Gain-
ESCO2-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ESPNL-
-
-
-
1Loss-
ESR1-
-
-
-
3Gain-
ESRP2-
-
-
-
1Loss-
ESRRA-
-
-
-
3Gain-
ESRRG-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETV1-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV7-
-
-
-
3Gain-
EVI5Lp.D770N
Missense
SNP
0.469
2--
EVX1-
-
-
-
3Gain-
EWSR1-
-
-
-
5Amp-
EXO1-
-
-
-
3Gain-
EXOC2-
-
-
-
1Loss-
EXOC3L1-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOSC6-
-
-
-
1Loss-
EXOSC7-
-
-
-
3Gain-
EXTL3-
-
-
-
1Loss-
EYA4-
-
-
-
1Loss-
EYS-
-
-
-
3Gain-
EZH2-
-
-
-
3Gain-
EZR-
-
-
-
3Gain-
F11R-
-
-
-
8Amp-
F12-
-
-
-
1Loss-
F13A1-
-
-
-
1Loss-
F13B-
-
-
-
3Gain-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
FA2H-
-
-
-
1Loss-
FAAP100-
-
-
-
3Gain-
FABP6-
-
-
-
1Loss-
FABP7-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAM102B-
-
-
-
3Gain-
FAM114A2-
-
-
-
1Loss-
FAM120B-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM129B-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM135A-
-
-
-
1Loss-
FAM136A-
-
-
-
3Gain-
FAM13B-
-
-
-
1Loss-
FAM151Ap.S135C
Missense
SNP
0.366
2--
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM162B-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM167A-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM177B-
-
-
-
3Gain-
FAM180A-
-
-
-
3Gain-
FAM184A-
-
-
-
1Loss-
FAM185A-
-
-
-
3Gain-
FAM189B-
-
-
-
5Amp-
FAM193B-
-
-
-
1Loss-
FAM19A3-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM217A-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM229B-
-
-
-
1Loss-
FAM240A-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM50B-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71B-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM81B-
-
-
-
1Loss-
FAM83B-
-
-
-
4Gain-
FAM86B1-
-
-
-
1Loss-
FAM89A-
-
-
-
3Gain-
FAM8A1-
-
-
-
1Loss-
FAM92B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCE-
-
-
-
3Gain-
FARP2-
-
-
-
1Loss-
FARS2-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASN-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAXC-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBXL13-
-
-
-
3Gain-
FBXL17-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL4-
-
-
-
1Loss-
FBXL8-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO24-
-
-
-
3Gain-
FBXO25-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO30-
-
-
-
4Gain-
FBXO31-
-
-
-
1Loss-
FBXO34-
-
-
-
3Gain-
FBXO38-
-
-
-
1Loss-
FBXO45-
-
-
-
4Gain-
FBXO5-
-
-
-
3Gain-
FBXO9-
-
-
-
4Gain-
FBXW11-
-
-
-
1Loss-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
5Amp-
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDFT1-
-
-
-
1Loss-
FDPS-
-
-
-
5Amp-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FERMT3-
-
-
-
3Gain-
FEZF1-
-
-
-
3Gain-
FGD2-
-
-
-
3Gain-
FGF1-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR1OP-
-
-
-
3Gain-
FGFR4-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FGL2-
-
-
-
3Gain-
FH-
-
-
-
3Gain-
FHL2-
-
-
-
3Gain-
FHL5-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FILIP1-
-
-
-
1Loss-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP15-
-
-
-
3Gain-
FKBP1C-
-
-
-
3Gain-
FKBP2-
-
-
-
3Gain-
FKBP5-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FKBPL-
-
-
-
3Gain-
FLAD1p.D505Y
Missense
SNP
0.213
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
5Amp-
FLRT1-
-
-
-
3Gain-
FLT4-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FN3K-
-
-
-
3Gain-
FN3KRP-
-
-
-
3Gain-
FNDC1-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNDC7-
-
-
-
3Gain-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNTB-
-
-
-
3Gain-
FOXC1-
-
-
-
1Loss-
FOXC2-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXF2-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXJ1-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXK2-
-
-
-
3Gain-
FOXL1-
-
-
-
1Loss-
FOXO3-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FOXP4-
-
-
-
3Gain-
FOXQ1-
-
-
-
1Loss-
FOXRED2-
-
-
-
3Gain-
FPGTp.D231N
Missense
SNP
0.389
2--
FRK-
-
-
-
1Loss-
FRMD1-
-
-
-
3Gain-
FRS3-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FSCN2-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FST-
-
-
-
1Loss-
FSTL4-
-
-
-
3Gain-
FSTL5p.Q350*
Nonsense
SNP
0.383
2--
FTMT-
-
-
-
1Loss-
FTSJ3-
-
-
-
3Gain-
FUCA2-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYCO1-
-
-
-
3Gain-
FYN-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD3-
-
-
-
1Loss-
FZD9-
-
-
-
3Gain-
G0S2-
-
-
-
3Gain-
G3BP1-
-
-
-
1Loss-
GAA-
-
-
-
3Gain-
GABARAPL2-
-
-
-
1Loss-
GABBR1-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GAL3ST4-
-
-
-
3Gain-
GALK1-
-
-
-
3Gain-
GALNS-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GAN-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GARNL3-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GAS2L1-
-
-
-
5Amp-
GAS8-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATA6-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GATD1-
-
-
-
1Loss-
GBA-
-
-
-
5Amp-
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCGR-
-
-
-
3Gain-
GCH1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCLC-
-
-
-
4Gain-
GCM1-
-
-
-
4Gain-
GCM2-
-
-
-
1Loss-
GCN1-
-
-
-
3Gain-
GCNT2-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDAP2-
-
-
-
3Gain-
GDF9-
-
-
-
3Gain-
GDPD1-
-
-
-
3Gain-
GDPGP1-
-
-
-
3Gain-
GEMIN5-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFM2-
-
-
-
1Loss-
GFOD1-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFPT2-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFRAL-
-
-
-
4Gain-
GGCT-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHITM-
-
-
-
1Loss-
GHRH-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIN1-
-
-
-
1Loss-
GINM1-
-
-
-
3Gain-
GINS2-
-
-
-
1Loss-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8p.E110K
Missense
SNP
0.165
3Gain-
GJB7-
-
-
-
1Loss-
GJC2-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GJE1-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLG1-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLMP-
-
-
-
4Gain-
GLO1-
-
-
-
3Gain-
GLP1R-
-
-
-
3Gain-
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLUL-
-
-
-
3Gain-
GLYATL3-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL1-
-
-
-
3Gain-
GMCL2-
-
-
-
1Loss-
GMDS-
-
-
-
1Loss-
GMEB2-
-
-
-
3Gain-
GMNN-
-
-
-
3Gain-
GMPR-
-
-
-
1Loss-
GMPS-
-
-
-
3Gain-
GNA11-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNA15-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI3-
-
-
-
3Gain-
GNAL-
-
-
-
3Gain-
GNAT2-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNG10-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GNL1-
-
-
-
5Amp-
GNMT-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA4p.H1157Y
Missense
SNP
0.226
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
6Amp-
GOPC-
-
-
-
1Loss-
GORAB-
-
-
-
3Gain-
GOT1L1-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPANK1-
-
-
-
5Amp-
GPATCH2p.E27K
Missense
SNP
0.562
3Gain-
GPATCH3-
-
-
-
3Gain-
GPATCH4-
-
-
-
3Gain-
GPBP1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPC2-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPLD1-
-
-
-
3Gain-
GPN2-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR132-
-
-
-
3Gain-
GPR137-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR149-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR157-
-
-
-
3Gain-
GPR161-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR182-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR31-
-
-
-
3Gain-
GPR35-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
5Amp-
GPR45-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR6-
-
-
-
1Loss-
GPR61-
-
-
-
3Gain-
GPR63-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC6A-
-
-
-
1Loss-
GPRIN1-
-
-
-
1Loss-
GPS1-
-
-
-
3Gain-
GPSM2-
-
-
-
3Gain-
GPSM3-
-
-
-
3Gain-
GPT2-
-
-
-
3Gain-
GPX2-
-
-
-
3Gain-
GPX3-
-
-
-
1Loss-
GPX5-
-
-
-
3Gain-
GPX6-
-
-
-
3Gain-
GPX8-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GREB1L-
-
-
-
3Gain-
GREM2-
-
-
-
3Gain-
GRHL3-
-
-
-
3Gain-
GRIA1-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK2-
-
-
-
1Loss-
GRK2-
-
-
-
3Gain-
GRK6-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM1-
-
-
-
4Gain-
GRM4-
-
-
-
3Gain-
GRM6-
-
-
-
1Loss-
GRM8-
-
-
-
3Gain-
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSR-
-
-
-
1Loss-
GSTA1-
-
-
-
4Gain-
GSTA2-
-
-
-
4Gain-
GSTA3-
-
-
-
4Gain-
GSTA4-
-
-
-
4Gain-
GSTA5-
-
-
-
4Gain-
GSTK1-
-
-
-
3Gain-
GSTM1-
-
-
-
3Gain-
GSTM2-
-
-
-
3Gain-
GSTM3-
-
-
-
3Gain-
GSTM4-
-
-
-
3Gain-
GSTM5-
-
-
-
3Gain-
GSTZ1-
-
-
-
3Gain-
GTF2E2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H3-
-
-
-
3Gain-
GTF2H4-
-
-
-
5Amp-
GTF2H5-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C6-
-
-
-
1Loss-
GTPBP1-
-
-
-
3Gain-
GTPBP2-
-
-
-
6Amp-
GUCA1A-
-
-
-
6Amp-
GUCA1B-
-
-
-
6Amp-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GVQW2-
-
-
-
3Gain-
GYG1-
-
-
-
3Gain-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H2AFV-
-
-
-
3Gain-
H2AFY-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
H3F3B-
-
-
-
3Gain-
H6PD-
-
-
-
3Gain-
HACE1-
-
-
-
1Loss-
HACL1-
-
-
-
3Gain-
HAND1-
-
-
-
1Loss-
HAO2-
-
-
-
3Gain-
HAPLN1-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HBS1L-
-
-
-
1Loss-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCN3-
-
-
-
5Amp-
HCRTR2-
-
-
-
4Gain-
HDAC2-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDAC9-
-
-
-
3GainCYTH3--HDAC9
HDDC2-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL1-
-
-
-
3Gain-
HDHD3-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HEATR1-
-
-
-
3Gain-
HEBP2-
-
-
-
3Gain-
HECA-
-
-
-
3Gain-
HECTD4-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HELBp.K948N
Missense
SNP
0.420
2--
HELZ2-
-
-
-
3Gain-
HENMT1-
-
-
-
3Gain-
HEPACAM2-
-
-
-
3Gain-
HERPUD2-
-
-
-
3Gain-
HES6-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEXDC-
-
-
-
3Gain-
HEY2-
-
-
-
1Loss-
HFE-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HGS-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIC2-
-
-
-
3Gain-
HIGD2A-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIP1-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIPK1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIST1H1A-
-
-
-
3Gain-
HIST1H1B-
-
-
-
3Gain-
HIST1H1C-
-
-
-
3Gain-
HIST1H1D-
-
-
-
3Gain-
HIST1H1E-
-
-
-
3Gain-
HIST1H1T-
-
-
-
3Gain-
HIST1H2AA-
-
-
-
3Gain-
HIST1H2AB-
-
-
-
3Gain-
HIST1H2AC-
-
-
-
3Gain-
HIST1H2AD-
-
-
-
3Gain-
HIST1H2AE-
-
-
-
3Gain-
HIST1H2AG-
-
-
-
3Gain-
HIST1H2AH-
-
-
-
3Gain-
HIST1H2AI-
-
-
-
3Gain-
HIST1H2AJ-
-
-
-
3Gain-
HIST1H2AK-
-
-
-
3Gain-
HIST1H2AL-
-
-
-
3Gain-
HIST1H2AM-
-
-
-
3Gain-
HIST1H2BA-
-
-
-
3Gain-
HIST1H2BB-
-
-
-
3Gain-
HIST1H2BC-
-
-
-
3Gain-
HIST1H2BD-
-
-
-
3Gain-
HIST1H2BE-
-
-
-
3Gain-
HIST1H2BF-
-
-
-
3Gain-
HIST1H2BG-
-
-
-
3Gain-
HIST1H2BH-
-
-
-
3Gain-
HIST1H2BI-
-
-
-
3Gain-
HIST1H2BJ-
-
-
-
3Gain-
HIST1H2BK-
-
-
-
3Gain-
HIST1H2BL-
-
-
-
3Gain-
HIST1H2BM-
-
-
-
3Gain-
HIST1H2BN-
-
-
-
3Gain-
HIST1H2BO-
-
-
-
3Gain-
HIST1H3A-
-
-
-
3Gain-
HIST1H3Bp.E74K
Missense
SNP
0.151
3Gain-
HIST1H3C-
-
-
-
3Gain-
HIST1H3D-
-
-
-
3Gain-
HIST1H3E-
-
-
-
3Gain-
HIST1H3F-
-
-
-
3Gain-
HIST1H3G-
-
-
-
3Gain-
HIST1H3H-
-
-
-
3Gain-
HIST1H3I-
-
-
-
3Gain-
HIST1H3J-
-
-
-
3Gain-
HIST1H4A-
-
-
-
3Gain-
HIST1H4B-
-
-
-
3Gain-
HIST1H4C-
-
-
-
3Gain-
HIST1H4D-
-
-
-
3Gain-
HIST1H4E-
-
-
-
3Gain-
HIST1H4F-
-
-
-
3Gain-
HIST1H4G-
-
-
-
3Gain-
HIST1H4H-
-
-
-
3Gain-
HIST1H4I-
-
-
-
3Gain-
HIST1H4J-
-
-
-
3Gain-
HIST1H4K-
-
-
-
3Gain-
HIST1H4L-
-
-
-
3Gain-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP1-
-
-
-
1Loss-
HIVEP2-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HK3-
-
-
-
1Loss-
HKR1-
-
-
-
3Gain-
HLA-A-
-
-
-
3Gain-
HLA-B-
-
-
-
5Amp-
HLA-Cp.Q248H
Missense
SNP
0.141
5Amp-
HLA-DMA-
-
-
-
3Gain-
HLA-DMB-
-
-
-
3Gain-
HLA-DOA-
-
-
-
3Gain-
HLA-DOB-
-
-
-
3Gain-
HLA-DPA1-
-
-
-
3Gain-
HLA-DPB1-
-
-
-
3Gain-
HLA-DQA1-
-
-
-
3Gain-
HLA-DQA2-
-
-
-
3Gain-
HLA-DQB1-
-
-
-
3Gain-
HLA-DQB2-
-
-
-
3Gain-
HLA-DRA-
-
-
-
3Gain-
HLA-DRB1-
-
-
-
3Gain-
HLA-DRB5-
-
-
-
3Gain-
HLA-E-
-
-
-
5Amp-
HLA-F-
-
-
-
3Gain-
HLA-G-
-
-
-
3Gain-
HLTF-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMGA1-
-
-
-
3Gain-
HMGCLL1-
-
-
-
4Gain-
HMGCR-
-
-
-
1Loss-
HMGCS2-
-
-
-
3Gain-
HMGN2p.E20*
Nonsense
SNP
0.347
2--
HMGN3-
-
-
-
1Loss-
HMGN4-
-
-
-
3Gain-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HNF1A-
-
-
-
3Gain-
HNF4Gp.Q205*
Nonsense
SNP
0.459
2--
HNRNPA0-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HOMER1-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HP-
-
-
-
1Loss-
HPD-
-
-
-
3Gain-
HPR-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HPX-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRH1-
-
-
-
3Gain-
HRH2-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST5-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSCB-
-
-
-
2-RBFOX2--HSCB
HSD11B1-
-
-
-
3Gain-
HSD11B2-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD17B6-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSD17B8-
-
-
-
3Gain-
HSD3B1-
-
-
-
3Gain-
HSD3B2-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSDL2-
-
-
-
3Gain-
HSF2-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSP90AB1-
-
-
-
6Amp-
HSPA1A-
-
-
-
3Gain-
HSPA1B-
-
-
-
3Gain-
HSPA1L-
-
-
-
3Gain-
HSPA2-
-
-
-
3Gain-
HSPA4-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1B-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HTRA4-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HUS1B-
-
-
-
1Loss-
HYAL4-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBTK-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ICAM2-
-
-
-
3Gain-
ICK-
-
-
-
4Gain-
ID4-
-
-
-
1Loss-
IDH2-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER3-
-
-
-
5Amp-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNGR1-
-
-
-
3Gain-
IFNLR1-
-
-
-
3Gain-
IFRD1-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IFT27-
-
-
-
3Gain-
IGF2-
-
-
-
1Loss-
IGF2BP3-
-
-
-
3Gain-
IGF2R-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFLR1p.S301L
Missense
SNP
0.262
2--
IGFN1-
-
-
-
3Gain-
IGIP-
-
-
-
1Loss-
IGLV10-54-
-
-
-
3Gain-
IGSF10-
-
-
-
3Gain-
IGSF3-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
3Gain-
IL17A-
-
-
-
4Gain-
IL17C-
-
-
-
1Loss-
IL17F-
-
-
-
4Gain-
IL19-
-
-
-
3Gain-
IL1A-
-
-
-
3Gain-
IL1B-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL20RA-
-
-
-
3Gain-
IL22RA1-
-
-
-
3Gain-
IL22RA2-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL3-
-
-
-
1Loss-
IL31-
-
-
-
3Gain-
IL31RA-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL36A-
-
-
-
3Gain-
IL36B-
-
-
-
3Gain-
IL36G-
-
-
-
3Gain-
IL37-
-
-
-
3Gain-
IL4-
-
-
-
3Gain-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL9-
-
-
-
1Loss-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILK-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMMP2L-
-
-
-
3Gain-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
IMPG1-
-
-
-
1Loss-
INAVA-
-
-
-
3Gain-
INF2-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
ING5-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INIP-
-
-
-
3Gain-
INKA2-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSIG1-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
IP6K3-
-
-
-
3Gain-
IPCEF1-
-
-
-
3Gain-
IPO11-
-
-
-
1Loss-
IPO7-
-
-
-
2-IPO7--RCE1
IPO7--C11orf80
IPO9-
-
-
-
5Amp-
IQCE-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IQGAP2-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK1BP1-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF2BPL-
-
-
-
3Gain-
IRF4-
-
-
-
1Loss-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF7-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ITFG1-
-
-
-
3Gain-
ITGA1-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA11p.E783Q
Missense
SNP
0.218
2--
ITGA2-
-
-
-
1Loss-
ITGA9-
-
-
-
3Gain-
ITGB4-
-
-
-
3Gain-
ITGB8-
-
-
-
3Gain-
ITK-
-
-
-
1Loss-
ITLN1-
-
-
-
5Amp-
ITLN2-
-
-
-
8Amp-
ITPKB-
-
-
-
3Gain-
ITPR3-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IYD-
-
-
-
3Gain-
IZUMO4-
-
-
-
3Gain-
JADE2-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JARID2-
-
-
-
1Loss-
JAZF1-
-
-
-
3Gain-
JMJD4-
-
-
-
3Gain-
JMJD6-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
KAAG1-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KATNA1-
-
-
-
3Gain-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD2-
-
-
-
3Gain-
KCNA10-
-
-
-
3Gain-
KCNA2-
-
-
-
3Gain-
KCNA3-
-
-
-
3Gain-
KCNAB1-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNC4-
-
-
-
3Gain-
KCND2-
-
-
-
3Gain-
KCND3-
-
-
-
3Gain-
KCNG1-
-
-
-
3Gain-
KCNG4-
-
-
-
1Loss-
KCNH1-
-
-
-
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH6-
-
-
-
3Gain-
KCNIP1-
-
-
-
1Loss-
KCNJ10p.Q295E
Missense
SNP
0.182
3Gain-
KCNJ3p.S69L
Missense
SNP
0.462
2--
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK16-
-
-
-
3Gain-
KCNK17-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK4-
-
-
-
3Gain-
KCNK5-
-
-
-
3Gain-
KCNMB1-
-
-
-
1Loss-
KCNMB3p.P3T
Missense
SNP
0.199
2--
KCNN2-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNQ1-
-
-
-
1Loss-
KCNQ5-
-
-
-
1Loss-
KCNS1-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCNU1-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD16-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD20-
-
-
-
3Gain-
KCTD3-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KCTD9-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDM1B-
-
-
-
1Loss-
KDM2A-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM5B-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDRp.E484Q
Missense
SNP
0.310
2--
KEL-
-
-
-
3Gain-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDC4-
-
-
-
6Amp-
KHDRBS2-
-
-
-
3Gain-
KIAA0319-
-
-
-
3Gain-
KIAA0513-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0895L-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1143-
-
-
-
3Gain-
KIAA1147-
-
-
-
3Gain-
KIAA1191-
-
-
-
1Loss-
KIAA1324-
-
-
-
3Gain-
KIAA1549-
-
-
-
3Gain-
KIAA1586-
-
-
-
4Gain-
KIAA1614-
-
-
-
3Gain-
KIAA1755-
-
-
-
3Gain-
KIAA1958-
-
-
-
3Gain-
KIF12-
-
-
-
3Gain-
KIF13A-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
3Gain-
KIF1A-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF21B-
-
-
-
3Gain-
KIF25-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIF2A-
-
-
-
1Loss-
KIF3A-
-
-
-
3Gain-
KIF4B-
-
-
-
1Loss-
KIF5C-
-
-
-
3Gain-
KIF6-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIFC1-
-
-
-
3Gain-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KLC3p.E84K
Missense
SNP
0.273
2--
KLC4-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC3-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
8Amp-
KLHL12-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL3-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL31-
-
-
-
4Gain-
KLHL32-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL7-
-
-
-
3Gain-
KLRC1p.S9*
Nonsense
SNP
0.283
2--
KLRG2-
-
-
-
3Gain-
KMO-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KMT5A-
-
-
-
3Gain-
KNTC1-
-
-
-
3Gain-
KPNA5-
-
-
-
1Loss-
KPNA7-
-
-
-
3Gain-
KPNB1-
-
-
-
2-SKA2--KPNB1
KPRP-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KREMEN1-
-
-
-
5Amp-
KRIT1-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KTN1-
-
-
-
3Gain-
L3MBTL3-
-
-
-
1Loss-
L3MBTL4-
-
-
-
3Gain-
LAD1-
-
-
-
3Gain-
LAMA1p.Q1128*
Nonsense
SNP
0.437
3Gain-
LAMA2p.E1567Q
Missense
SNP
0.486
1Loss-
LAMA3-
-
-
-
3Gain-
LAMA4-
-
-
-
1Loss-
LAMB1-
-
-
-
3Gain-
LAMB3-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMTOR2-
-
-
-
4Gain-
LAMTOR4-
-
-
-
3Gain-
LAMTOR5-
-
-
-
3Gain-
LAPTM4A-
-
-
-
3Gain-
LARP1-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LATS1-
-
-
-
3Gain-
LAX1-
-
-
-
3Gain-
LBP-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LCA5-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1D-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCP1-
-
-
-
3Gain-
LCP2-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD3p.E95K
Missense
SNP
0.639
2--
LDLRAD4-
-
-
-
3Gain-
LDLRAP1-
-
-
-
3Gain-
LEAP2-
-
-
-
3Gain-
LECT2-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LEKR1-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LEMD2-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS3-
-
-
-
3Gain-
LGALS3BP-
-
-
-
3Gain-
LGALS8-
-
-
-
3Gain-
LGI3-
-
-
-
1Loss-
LGR6-
-
-
-
5Amp-
LGSN-
-
-
-
3Gain-
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LHFPL5-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIG4p.E858K
Missense
SNP
0.228
2--
LILRA4p.S401C
Missense
SNP
0.258
2--
LIMD1-
-
-
-
3Gain-
LIMD2-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIN28B-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINGO1p.E111Q
Missense
SNP
0.406
2--
LINGO4-
-
-
-
3Gain-
LIPA-
-
-
-
1Loss-
LIPC-
-
-
-
2-SH3KBP1--LIPC
LIX1-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LMAN2-
-
-
-
1Loss-
LMBR1-
-
-
-
3Gain-
LMBRD1-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMNA-
-
-
-
4Gain-
LMNB1-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMOD1-
-
-
-
5Amp-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LPA-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LPIN2-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LRCH1-
-
-
-
3Gain-
LRCH3-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRFN2-
-
-
-
3Gain-
LRFN4-
-
-
-
3Gain-
LRGUK-
-
-
-
3Gain-
LRIF1-
-
-
-
3Gain-
LRIG2-
-
-
-
3Gain-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRP1-
-
-
-
3Gain-
LRP11-
-
-
-
3Gain-
LRRC1-
-
-
-
4Gain-
LRRC17-
-
-
-
3Gain-
LRRC2-
-
-
-
3Gain-
LRRC20-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC30-
-
-
-
3Gain-
LRRC36-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC41p.E728K
Missense
SNP
0.237
2--
LRRC43-
-
-
-
3Gain-
LRRC45-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC56-
-
-
-
1Loss-
LRRC61-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC70-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC73-
-
-
-
6Amp-
LRRD1-
-
-
-
3Gain-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
3Gain-
LRRN2-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRSAM1-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSM1-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LSM2-
-
-
-
3Gain-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSP1-
-
-
-
1Loss-
LST1-
-
-
-
5Amp-
LTA-
-
-
-
5Amp-
LTB-
-
-
-
5Amp-
LTC4S-
-
-
-
1Loss-
LTF-
-
-
-
3Gain-
LTV1-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LY6G5B-
-
-
-
5Amp-
LY6G5C-
-
-
-
5Amp-
LY6G6C-
-
-
-
5Amp-
LY6G6D-
-
-
-
5Amp-
LY6G6E-
-
-
-
5Amp-
LY6G6F-
-
-
-
5Amp-
LY6G6F-LY6G6D-
-
-
-
5Amp-
LY86-
-
-
-
1Loss-
LY9-
-
-
-
5Amp-
LYPD6B-
-
-
-
3Gain-
LYPD8-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYRM2-
-
-
-
1Loss-
LYRM4-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LYST-
-
-
-
3Gain-
LZTFL1-
-
-
-
3Gain-
LZTS1-
-
-
-
1Loss-
MAB21L3-
-
-
-
3Gain-
MAB21L4-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MACO1-
-
-
-
3Gain-
MACROD1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAD2L1BP-
-
-
-
6Amp-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAFG-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGI2-
-
-
-
3Gain-
MAGI3-
-
-
-
3Gain-
MAK-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MALSU1-
-
-
-
3Gain-
MAML1-
-
-
-
1Loss-
MAN1A1-
-
-
-
1Loss-
MAN1A2-
-
-
-
3Gain-
MAN1C1-
-
-
-
3Gain-
MAN2A1-
-
-
-
1Loss-
MANBAL-
-
-
-
3Gain-
MANEA-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1B-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP3K1-
-
-
-
1Loss-
MAP3K13p.Q86*
Nonsense
SNP
0.154
2--
MAP3K21-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
3Gain-
MAP3K7-
-
-
-
1Loss-
MAP4K5p.E357K
Missense
SNP
0.386
2--
MAP7-
-
-
-
3Gain-
MAPK1-
-
-
-
3Gain-
MAPK13-
-
-
-
3Gain-
MAPK14-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
3Gain-
MAPK9-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK5-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCKS-
-
-
-
1Loss-
MARF1-
-
-
-
3Gain-
MARK1-
-
-
-
3Gain-
MARVELD2-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAS1-
-
-
-
3Gain-
MAS1L-
-
-
-
3Gain-
MAST4-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATN3-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MAX-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MBLAC2-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBOAT1-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC2R-
-
-
-
3Gain-
MC5R-
-
-
-
3Gain-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCCD1-
-
-
-
5Amp-
MCHR2-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM3-
-
-
-
4Gain-
MCM7-
-
-
-
3Gain-
MCM9-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MCRIP1-
-
-
-
3Gain-
MCTP1-
-
-
-
1Loss-
MCUR1-
-
-
-
1Loss-
MDC1-
-
-
-
5Amp-
MDFI-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDGA1-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
MDN1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
MEA1-
-
-
-
3Gain-
MED12L-
-
-
-
3Gain-
MED20-
-
-
-
3Gain-
MED23-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEGF10-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEP1A-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METRNL-
-
-
-
3Gain-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL22-
-
-
-
3Gain-
METTL23-
-
-
-
3Gain-
METTL24-
-
-
-
1Loss-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL4-
-
-
-
3Gain-
METTL6-
-
-
-
3Gain-
MEX3A-
-
-
-
4Gain-
MFAP3-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFSD11-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MFSD4B-
-
-
-
1Loss-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT1-
-
-
-
1Loss-
MGAT3-
-
-
-
3Gain-
MGAT4B-
-
-
-
1Loss-
MGAT5B-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MIB1-
-
-
-
3Gain-
MICA-
-
-
-
5Amp-
MICAL1-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MICB-
-
-
-
5Amp-
MICU3-
-
-
-
1Loss-
MIEF1-
-
-
-
3Gain-
MIER3-
-
-
-
1Loss-
MILR1-
-
-
-
3Gain-
MINDY1-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIXL1-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKNK2-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN2-
-
-
-
3Gain-
MKRN2OS-
-
-
-
3Gain-
MLEC-
-
-
-
3Gain-
MLH1-
-
-
-
3Gain-
MLIP-
-
-
-
4Gain-
MLKL-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLN-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MLXIPL-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MME-
-
-
-
3Gain-
MMP26-
-
-
-
1Loss-
MMP9-
-
-
-
3Gain-
MMS22L-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNX1-
-
-
-
3Gain-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
3Gain-
MOCS1-
-
-
-
3Gain-
MOCS2-
-
-
-
1Loss-
MOCS3-
-
-
-
3Gain-
MOG-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MON1B-
-
-
-
1Loss-
MORN3-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MOV10-
-
-
-
3Gain-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
3Gain-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
3Gain-
MPIG6B-
-
-
-
5Amp-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPPE1-
-
-
-
3Gain-
MPV17L-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAP2-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MRNIP-
-
-
-
1Loss-
MROH8-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL12-
-
-
-
3Gain-
MRPL14-
-
-
-
6Amp-
MRPL17-
-
-
-
1Loss-
MRPL18-
-
-
-
3Gain-
MRPL2-
-
-
-
3Gain-
MRPL22-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL55-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS10-
-
-
-
6Amp-
MRPS14-
-
-
-
3Gain-
MRPS18A-
-
-
-
6Amp-
MRPS18B-
-
-
-
5Amp-
MRPS21-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS33-
-
-
-
3Gain-
MRPS36-
-
-
-
1Loss-
MRS2-
-
-
-
3Gain-
MSH3-
-
-
-
1Loss-
MSH5-
-
-
-
5Amp-
MSH5-SAPCD1-
-
-
-
5Amp-
MSI1-
-
-
-
3Gain-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSTO1-
-
-
-
6Amp-
MSX2-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MTCH1-
-
-
-
3Gain-
MTCL1-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTERF4-
-
-
-
1Loss-
MTFR1L-
-
-
-
3Gain-
MTFR2-
-
-
-
3Gain-
MTHFD1L-
-
-
-
3Gain-
MTHFSD-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTO1-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTRF1L-
-
-
-
3Gain-
MTSS1L-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MTX1-
-
-
-
5Amp-
MTX3-
-
-
-
1Loss-
MUC1-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC17-
-
-
-
3Gain-
MUC2-
-
-
-
1Loss-
MUC20-
-
-
-
4Gain-
MUC21-
-
-
-
5Amp-
MUC22-
-
-
-
5Amp-
MUC3A-
-
-
-
3Gain-
MUC4-
-
-
-
4Gain-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6p.R88Q
Missense
SNP
0.603
1Loss-
MUCL3-
-
-
-
5Amp-
MUT-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MXD1-
-
-
-
3Gain-
MXD3-
-
-
-
1Loss-
MXRA7-
-
-
-
3Gain-
MYADML2-
-
-
-
3Gain-
MYB-
-
-
-
3Gain-
MYBPH-
-
-
-
3Gain-
MYBPHL-
-
-
-
3Gain-
MYCT1-
-
-
-
3Gain-
MYD88-
-
-
-
3Gain-
MYH9-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYL9-
-
-
-
3Gain-
MYLIP-
-
-
-
1Loss-
MYLK3-
-
-
-
3Gain-
MYLK4-
-
-
-
1Loss-
MYMX-
-
-
-
6Amp-
MYO1A-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO6-
-
-
-
1Loss-
MYO7Ap.L1194V
Missense
SNP
0.264
2--
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM1-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA25-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NAE1-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NAP1L4-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NAPG-
-
-
-
3Gain-
NARF-
-
-
-
3Gain-
NAT1-
-
-
-
1Loss-
NAT16-
-
-
-
3Gain-
NAT2-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
3Gain-
NBPF4-
-
-
-
3Gain-
NBPF6-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCK2-
-
-
-
3Gain-
NCLN-
-
-
-
3Gain-
NCMAP-
-
-
-
3Gain-
NCOA7-
-
-
-
1Loss-
NCR2-
-
-
-
3Gain-
NCR3-
-
-
-
5Amp-
NCSTN-
-
-
-
3Gain-
NDC80-
-
-
-
3Gain-
NDE1-
-
-
-
3Gain-
NDFIP1-
-
-
-
1Loss-
NDRG3-
-
-
-
3Gain-
NDST1-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFAF2-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFAF8-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NDUFS2-
-
-
-
5Amp-
NDUFS4-
-
-
-
1Loss-
NDUFV2-
-
-
-
3Gain-
NECAB2-
-
-
-
1Loss-
NECTIN4-
-
-
-
8Amp-
NEDD9-
-
-
-
1Loss-
NEFH-
-
-
-
5Amp-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK11-
-
-
-
3Gain-
NEK2-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NELFE-
-
-
-
3Gain-
NEMP1-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NETO2-
-
-
-
3Gain-
NEU1-
-
-
-
3Gain-
NEU2p.S301F
Missense
SNP
0.347
2--
NEU4-
-
-
-
1Loss-
NEURL1-
-
-
-
3Gain-
NEURL1B-
-
-
-
1Loss-
NEURL2-
-
-
-
3Gain-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NF2-
-
-
-
5Amp-
NFASC-
-
-
-
3Gain-
NFAT5-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFKBIE-
-
-
-
6Amp-
NFKBIL1-
-
-
-
5Amp-
NFS1-
-
-
-
3Gain-
NFXL1p.S166L
Missense
SNP
0.688
2--
NFYA-
-
-
-
3Gain-
NGB-
-
-
-
3Gain-
NGF-
-
-
-
3Gain-
NGRN-
-
-
-
3Gain-
NHLH1-
-
-
-
3Gain-
NHLH2-
-
-
-
3Gain-
NHLRC1-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NHSL1-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NIP7-
-
-
-
1Loss-
NIPAL3-
-
-
-
3Gain-
NIPAL4-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
5Amp-
NIT1-
-
-
-
8Amp-
NKAIN2-
-
-
-
1Loss-
NKAPL-
-
-
-
3Gain-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP3-
-
-
-
3Gain-
NLRP6-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMUR2-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NODAL-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL7-
-
-
-
1Loss-
NOM1-
-
-
-
3Gain-
NOMO1-
-
-
-
3Gain-
NOP16-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOS3p.V989L
Missense
SNP
0.220
3Gain-
NOTCH1p.A1936T
Missense
SNP
0.370
2--
NOTCH2-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH4-
-
-
-
3Gain-
NOTUM-
-
-
-
3Gain-
NOX3-
-
-
-
3Gain-
NOXRED1-
-
-
-
3Gain-
NPAS4p.L455F
Missense
SNP
0.620
2--
NPB-
-
-
-
3Gain-
NPC1-
-
-
-
5Amp-
NPC1L1-
-
-
-
3Gain-
NPFFR1-
-
-
-
1Loss-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPHS2-
-
-
-
3Gain-
NPIPB15-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPLOC4-
-
-
-
3Gain-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPSR1-
-
-
-
3Gain-
NPTX1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPTXR-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NQO1-
-
-
-
1Loss-
NQO2-
-
-
-
1Loss-
NR1I3-
-
-
-
5Amp-
NR2E1-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRAS-
-
-
-
5Amp-
NRCAM-
-
-
-
3Gain-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
1Loss-
NRG3-
-
-
-
1Loss-
NRM-
-
-
-
5Amp-
NRN1-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NRROS-
-
-
-
4Gain-
NRSN1-
-
-
-
3Gain-
NRXN2-
-
-
-
3Gain-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NSUN7-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NT5DC1-
-
-
-
1Loss-
NT5DC4-
-
-
-
3Gain-
NT5E-
-
-
-
1Loss-
NTAN1-
-
-
-
3Gain-
NTM-
-
-
-
1Loss-
NTN3p.G189S
Missense
SNP
0.266
2--
NTNG1-
-
-
-
3Gain-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT12-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
1Loss-
NUDT22-
-
-
-
3Gain-
NUDT3-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUDT7-
-
-
-
1Loss-
NUF2-
-
-
-
3Gain-
NUGGC-
-
-
-
1Loss-
NUP133-
-
-
-
3Gain-
NUP153-
-
-
-
1Loss-
NUP205-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NUP43-
-
-
-
3Gain-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUS1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NVL-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OARD1-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OCLM-
-
-
-
3Gain-
OCLN-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODF3-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGDHp.I856M
Missense
SNP
0.164
3Gain-
OGFOD2-
-
-
-
3Gain-
OGFOD3-
-
-
-
3Gain-
OGFRL1-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLFML3-
-
-
-
3Gain-
OLIG3-
-
-
-
3Gain-
OOEP-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPN5-
-
-
-
3Gain-
OPRM1-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10C1-
-
-
-
3Gain-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2p.F124L
Missense
SNP
0.186
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11A1-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR12D2-
-
-
-
3Gain-
OR12D3-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14J1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A4-
-
-
-
1Loss-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2B6-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2H1-
-
-
-
3Gain-
OR2H2-
-
-
-
3Gain-
OR2J1-
-
-
-
3Gain-
OR2J2-
-
-
-
3Gain-
OR2J3-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W1-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR2Y1-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5V1-
-
-
-
3Gain-
OR6A2-
-
-
-
1Loss-
OR6B1-
-
-
-
3Gain-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6V1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC3-
-
-
-
1Loss-
ORC5-
-
-
-
3Gain-
ORC6-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSTM1-
-
-
-
1Loss-
OTOS-
-
-
-
1Loss-
OTP-
-
-
-
1Loss-
OTUB1-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OVCH2-
-
-
-
1Loss-
OVGP1-
-
-
-
3Gain-
OXLD1-
-
-
-
3Gain-
OXSR1-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P4HA2-
-
-
-
1Loss-
P4HB-
-
-
-
3Gain-
PABPC1-
-
-
-
5Amp-
PABPC1L-
-
-
-
3Gain-
PABPN1L-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACSIN1-
-
-
-
3Gain-
PAK1IP1-
-
-
-
1Loss-
PAK2-
-
-
-
4Gain-
PALD1-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPPA2-
-
-
-
4Gain-
PAQR6-
-
-
-
4Gain-
PAQR7-
-
-
-
3Gain-
PAQR8-
-
-
-
4Gain-
PAQR9-
-
-
-
3Gain-
PARD6A-
-
-
-
1Loss-
PARD6B-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP8-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAXIP1-
-
-
-
3Gain-
PBK-
-
-
-
1Loss-
PBOV1-
-
-
-
3Gain-
PBX1-
-
-
-
3Gain-
PBX2-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PC-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP1-
-
-
-
3Gain-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCIF1-
-
-
-
3Gain-
PCLO-
-
-
-
3Gain-
PCM1-
-
-
-
1Loss-
PCMT1-
-
-
-
3Gain-
PCNX2-
-
-
-
3Gain-
PCOLCE-
-
-
-
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCP4L1-
-
-
-
5Amp-
PCSK1-
-
-
-
1Loss-
PCYOX1-
-
-
-
3Gain-
PCYT1A-
-
-
-
4Gain-
PCYT2-
-
-
-
3Gain-
PDAP1-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD2-
-
-
-
3Gain-
PDE10A-
-
-
-
3Gain-
PDE1C-
-
-
-
3Gain-
PDE4Dp.Q714E
Missense
SNP
0.278
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE6G-
-
-
-
3Gain-
PDE7B-
-
-
-
3Gain-
PDE8B-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
3Gain-
PDGFRL-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM2-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDSS2-
-
-
-
1Loss-
PDXDC1-
-
-
-
3Gain-
PDZK1-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEBP4-
-
-
-
1Loss-
PECAM1-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PELO-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PERP-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX6-
-
-
-
3Gain-
PEX7-
-
-
-
3Gain-
PFDN1-
-
-
-
1Loss-
PFDN2-
-
-
-
8Amp-
PFDN6-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFN2-
-
-
-
3Gain-
PFN3-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGBD1-
-
-
-
3Gain-
PGBD2-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGC-
-
-
-
3Gain-
PGGHG-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGK2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM3-
-
-
-
1Loss-
PGS1-
-
-
-
3Gain-
PHACTR1p.R394K
Missense
SNP
0.610
1Loss-
PHACTR2-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHETA1-
-
-
-
3Gain-
PHF1-
-
-
-
3Gain-
PHF10-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF20-
-
-
-
3Gain-
PHF3-
-
-
-
3Gain-
PHGDH-
-
-
-
3Gain-
PHIP-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDA3-
-
-
-
3Gain-
PHLPP2-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF1-
-
-
-
3Gain-
PHTF2-
-
-
-
3Gain-
PHYHIP-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI16-
-
-
-
3Gain-
PI3-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIEZO2-
-
-
-
3Gain-
PIFO-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGNp.R777*
Nonsense
SNP
0.390
2--
PIGR-
-
-
-
3Gain-
PIGT-
-
-
-
3Gain-
PIGV-
-
-
-
3Gain-
PIGX-
-
-
-
4Gain-
PIGZ-
-
-
-
3Gain-
PIK3C2B-
-
-
-
3Gain-
PIK3CAp.E545K
Missense
SNP
0.395
2--
PIK3CG-
-
-
-
3Gain-
PIK3R1-
-
-
-
1Loss-
PIK3R4-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM1-
-
-
-
3Gain-
PINX1-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PITPNM2-
-
-
-
3Gain-
PITX1-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD1L1-
-
-
-
3Gain-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKHD1-
-
-
-
4Gain-
PKIB-
-
-
-
1Loss-
PKLR-
-
-
-
5Amp-
PKP1-
-
-
-
3Gain-
PKP3-
-
-
-
1Loss-
PLA2G10-
-
-
-
3Gain-
PLA2G15-
-
-
-
1Loss-
PLA2G1B-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G7-
-
-
-
3Gain-
PLAC8L1-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLCB3-
-
-
-
3Gain-
PLCD1-
-
-
-
3Gain-
PLCG2-
-
-
-
1Loss-
PLCH1-
-
-
-
3Gain-
PLD4-
-
-
-
3Gain-
PLD5-
-
-
-
3Gain-
PLECp.R4335H
Missense
SNP
0.267
2--
PLEKHA2-
-
-
-
1Loss-
PLEKHA6-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHG1-
-
-
-
3Gain-
PLEKHG3-
-
-
-
3Gain-
PLEKHG4-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLG-
-
-
-
3Gain-
PLK2-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPBP-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLTP-
-
-
-
3Gain-
PLXNA2-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PM20D1-
-
-
-
3Gain-
PM20D2-
-
-
-
1Loss-
PMF1-
-
-
-
4Gain-
PMF1-BGLAP-
-
-
-
4Gain-
PMFBP1-
-
-
-
1Loss-
PMM2-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNISR-
-
-
-
1Loss-
PNLDC1-
-
-
-
3Gain-
PNMA2-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNPLA1-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNRC1-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLD4-
-
-
-
3Gain-
POLE3-
-
-
-
3Gain-
POLG2-
-
-
-
3Gain-
POLH-
-
-
-
6Amp-
POLK-
-
-
-
1Loss-
POLM-
-
-
-
3Gain-
POLR1B-
-
-
-
3Gain-
POLR1C-
-
-
-
6Amp-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2L-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POM121L2-
-
-
-
3Gain-
POMT2-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP5-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POPDC3-
-
-
-
1Loss-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEC-
-
-
-
3Gain-
POU2F1-
-
-
-
3Gain-
POU3F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F1-
-
-
-
5Amp-
POU5F2-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PPA1-
-
-
-
1Loss-
PPARD-
-
-
-
3Gain-
PPARG-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPEF2p.Q537E
Missense
SNP
0.373
2--
PPFIA4-
-
-
-
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPIA-
-
-
-
3Gain-
PPIAL4C-
-
-
-
3Gain-
PPIAL4G-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPIL1-
-
-
-
3Gain-
PPIL2-
-
-
-
3Gain-
PPIL4-
-
-
-
3Gain-
PPIL6-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPM1F-
-
-
-
3Gain-
PPM1J-
-
-
-
3Gain-
PPOX-
-
-
-
5Amp-
PPP1CA-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R10p.L198V
Missense
SNP
0.127
5Amp-
PPP1R11-
-
-
-
3Gain-
PPP1R12B-
-
-
-
5Amp-
PPP1R14B-
-
-
-
3Gain-
PPP1R14C-
-
-
-
3Gain-
PPP1R15B-
-
-
-
3Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R18-
-
-
-
5Amp-
PPP1R27-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R36-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R3B-
-
-
-
1Loss-
PPP1R3G-
-
-
-
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP1R9A-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R1A-
-
-
-
3Gain-
PPP2R2A-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R5A-
-
-
-
3Gain-
PPP2R5D-
-
-
-
3Gain-
PPP3CC-
-
-
-
1Loss-
PPP4R1-
-
-
-
3Gain-
PPT2-
-
-
-
3Gain-
PPT2-EGFL8-
-
-
-
3Gain-
PPWD1-
-
-
-
1Loss-
PQLC2L-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRCD-
-
-
-
3Gain-
PRDM1-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDX5-
-
-
-
3Gain-
PRDX6-
-
-
-
3Gain-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRELID3A-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PREP-
-
-
-
1Loss-
PRF1-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRICKLE4-
-
-
-
3Gain-
PRIM1-
-
-
-
3Gain-
PRIM2-
-
-
-
4Gain-
PRKAB2-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKN-
-
-
-
1Loss-
PRKRIP1-
-
-
-
3Gain-
PRL-
-
-
-
3Gain-
PRLH-
-
-
-
1Loss-
PRMT6-
-
-
-
3Gain-
PRMT7-
-
-
-
1Loss-
PROK1-
-
-
-
3Gain-
PROP1-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF38B-
-
-
-
3Gain-
PRPF4-
-
-
-
3Gain-
PRPF4B-
-
-
-
1Loss-
PRPH2-
-
-
-
3Gain-
PRPS1L1-
-
-
-
3Gain-
PRPSAP1-
-
-
-
3Gain-
PRR11-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR18-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR29-
-
-
-
3Gain-
PRR3-
-
-
-
5Amp-
PRR33-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC1-
-
-
-
1Loss-
PRRC2A-
-
-
-
5Amp-
PRRC2C-
-
-
-
3Gain-
PRRT1-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS16-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS35-
-
-
-
1Loss-
PRSS37-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS55-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRUNE1-
-
-
-
3Gain-
PSAP-
-
-
-
3Gain-
PSD3-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSKH1-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMA5-
-
-
-
3Gain-
PSMB1-
-
-
-
3Gain-
PSMB10-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB8-
-
-
-
3Gain-
PSMB9-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMC5-
-
-
-
3Gain-
PSMD13-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSMD9-
-
-
-
3Gain-
PSMG2-
-
-
-
3Gain-
PSMG3-
-
-
-
3Gain-
PSMG4-
-
-
-
1Loss-
PSORS1C1-
-
-
-
5Amp-
PSORS1C2-
-
-
-
5Amp-
PSRC1-
-
-
-
3Gain-
PTBP3p.R445G
Missense
SNP
0.468
3Gain-
PTCD1-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTCHD4-
-
-
-
1Loss-
PTCRA-
-
-
-
3Gain-
PTDSS2-
-
-
-
1Loss-
PTGFRN-
-
-
-
3Gain-
PTGIS-
-
-
-
3Gain-
PTGR1-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTK2B-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTK7-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTP4A1-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPN14-
-
-
-
3Gain-
PTPN2-
-
-
-
3Gain-
PTPN22-
-
-
-
3Gain-
PTPN3p.E555K
Missense
SNP
0.265
2--
PTPN7-
-
-
-
5Amp-
PTPRC-
-
-
-
3Gain-
PTPRDp.D991N
Missense
SNP
0.364
2--
PTPRK-
-
-
-
1Loss-
PTPRM-
-
-
-
3Gain-
PTPRN2-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTRH1-
-
-
-
3Gain-
PTRH2-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PTX3-
-
-
-
3Gain-
PUM2-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PVALEF-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWWP2A-
-
-
-
1Loss-
PXDC1-
-
-
-
1Loss-
PXN-
-
-
-
3Gain-
PXT1-
-
-
-
3Gain-
PXYLP1-
-
-
-
3Gain-
PYCR1-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QKI-
-
-
-
1Loss-
QRICH2-
-
-
-
3Gain-
QRSL1-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
R3HCC1-
-
-
-
1Loss-
R3HDM2-
-
-
-
3Gain-
RAB11FIP1-
-
-
-
1Loss-
RAB12-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB15-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB19-
-
-
-
3Gain-
RAB23-
-
-
-
4Gain-
RAB24-
-
-
-
1Loss-
RAB25-
-
-
-
4Gain-
RAB29-
-
-
-
3Gain-
RAB31-
-
-
-
3Gain-
RAB32-
-
-
-
1Loss-
RAB35-
-
-
-
3Gain-
RAB3C-
-
-
-
1Loss-
RAB3GAP1p.Q622*
Nonsense
SNP
0.321
2--
RAB3GAP2-
-
-
-
3Gain-
RAB40B-
-
-
-
3Gain-
RAB44-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB5IF-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC3-
-
-
-
3Gain-
RACK1-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD9A-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RAET1E-
-
-
-
3Gain-
RAET1G-
-
-
-
3Gain-
RAET1L-
-
-
-
3Gain-
RAF1-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RALBP1-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALGPS1-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RAMACL-
-
-
-
3Gain-
RAMP1-
-
-
-
1Loss-
RAMP3-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP9p.S519*
Nonsense
SNP
0.368
1Loss-
RAP1A-
-
-
-
3Gain-
RAP2B-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RARRES2-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASGEF1C-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASL10A-
-
-
-
5Amp-
RASSF5-
-
-
-
3Gain-
RASSF7-
-
-
-
1Loss-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBBP8-
-
-
-
5Amp-
RBFOX2-
-
-
-
2-RBFOX2--HSCB
RBFOX3-
-
-
-
3Gain-
RBL1-
-
-
-
3Gain-
RBM12-
-
-
-
3Gain-
RBM15-
-
-
-
3Gain-
RBM22-
-
-
-
1Loss-
RBM24-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM44-
-
-
-
1Loss-
RBM48p.R284H
Missense
SNP
0.181
3Gain-
RBM5-
-
-
-
3Gain-
RBM8A-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
1Loss-
RC3H1p.S772C
Missense
SNP
0.137
3Gain-
RCAN2-
-
-
-
3Gain-
RCAN3-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCE1-
-
-
-
3GainIPO7--RCE1
RCOR2-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RDH16-
-
-
-
3Gain-
REEP2-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REG4-
-
-
-
3Gain-
RELL2-
-
-
-
1Loss-
RELN-
-
-
-
3Gain-
REN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REPS1-
-
-
-
3Gain-
RERE-
-
-
-
3Gain-
RETp.D378N
Missense
SNP
0.313
2--
REV3L-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFESD-
-
-
-
1Loss-
RFNG-
-
-
-
3Gain-
RFPL1-
-
-
-
5Amp-
RFPL4B-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX6-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGL2-
-
-
-
3Gain-
RGMB-
-
-
-
1Loss-
RGR-
-
-
-
1Loss-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS14-
-
-
-
1Loss-
RGS16-
-
-
-
3Gain-
RGS17-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS3-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHAG-
-
-
-
1Loss-
RHBDD2-
-
-
-
3Gain-
RHBDD3-
-
-
-
5Amp-
RHBDF2-
-
-
-
3Gain-
RHBG-
-
-
-
4Gain-
RHCE-
-
-
-
3Gain-
RHD-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOB-
-
-
-
3Gain-
RHOBTB2-
-
-
-
1Loss-
RHOBTB3-
-
-
-
1Loss-
RHOC-
-
-
-
3Gain-
RHOD-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RHOG-
-
-
-
1Loss-
RHOU-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMS1-
-
-
-
1Loss-
RING1-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RIOK1-
-
-
-
1Loss-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
5Amp-
RIPK1-
-
-
-
1Loss-
RIPOR1-
-
-
-
1Loss-
RIPOR2-
-
-
-
3Gain-
RIPOR3-
-
-
-
3Gain-
RIPPLY2-
-
-
-
1Loss-
RIT1-
-
-
-
6Amp-
RMC1-
-
-
-
5Amp-
RMND1-
-
-
-
3Gain-
RMND5B-
-
-
-
1Loss-
RNASE12p.E15K
Missense
SNP
0.246
2--
RNASEL-
-
-
-
3Gain-
RNASET2-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF114-
-
-
-
3Gain-
RNF115-
-
-
-
3Gain-
RNF122-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF130-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF14-
-
-
-
1Loss-
RNF144B-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF157-
-
-
-
3Gain-
RNF166-
-
-
-
1Loss-
RNF168-
-
-
-
4Gain-
RNF180-
-
-
-
1Loss-
RNF182-
-
-
-
1Loss-
RNF183-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF213p.L1293I
Missense
SNP
0.357
3Gain-
RNF216-
-
-
-
3Gain-
RNF217-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
3Gain-
RNF39-
-
-
-
3Gain-
RNF44-
-
-
-
1Loss-
RNF5-
-
-
-
3Gain-
RNF7p.S20L
Missense
SNP
0.189
3Gain-
RNF8-
-
-
-
1Loss-
RNGTT-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNMT-
-
-
-
3Gain-
RNPEP-
-
-
-
5Amp-
RNPEPL1-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROMO1-
-
-
-
3Gain-
ROR1p.M64I
Missense
SNP
0.232
2--
RORC-
-
-
-
3Gain-
ROS1-
-
-
-
1Loss-
RP1-34B20.21p.E122Q
Missense
SNP
0.146
NDND-
RP1L1-
-
-
-
1Loss-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPF2-
-
-
-
1Loss-
RPL10A-
-
-
-
3Gain-
RPL12-
-
-
-
3Gain-
RPL13-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL3-
-
-
-
3Gain-
RPL32-
-
-
-
3Gain-
RPL35A-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPL7L1-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPLP2-
-
-
-
1Loss-
RPN2-
-
-
-
3Gain-
RPP21-
-
-
-
5Amp-
RPP40-
-
-
-
1Loss-
RPRD1B-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPS10-
-
-
-
3Gain-
RPS10-NUDT3-
-
-
-
3Gain-
RPS12-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS18-
-
-
-
3Gain-
RPS19BP1-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS6KA2-
-
-
-
3Gain-
RPS6KA4-
-
-
-
3Gain-
RPS6KC1-
-
-
-
3Gain-
RPS7P1-
-
-
-
NDNDAL139099.4--RPS7P1
RPTN-
-
-
-
3Gain-
RPTOR-
-
-
-
3Gain-
RRAD-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RREB1-
-
-
-
1Loss-
RRHp.G147E
Missense
SNP
0.274
2--
RRM1-
-
-
-
1Loss-
RRN3-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRP36-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RSBN1-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH3-
-
-
-
3Gain-
RSPH4A-
-
-
-
1Loss-
RSPH9-
-
-
-
6Amp-
RSRC2-
-
-
-
3Gain-
RSRP1-
-
-
-
3Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTKN2-
-
-
-
3Gain-
RTN4IP1-
-
-
-
1Loss-
RTP3-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
3Gain-
RUFY1-
-
-
-
1Loss-
RUNX2-
-
-
-
3Gain-
RUNX3-
-
-
-
3Gain-
RUSC1-
-
-
-
5Amp-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RXFP1p.S150W
Missense
SNP
0.288
2--
RXFP4-
-
-
-
6Amp-
RXRB-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR2-
-
-
-
3Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100Z-
-
-
-
1Loss-
S1PR4-
-
-
-
3Gain-
SACM1L-
-
-
-
3Gain-
SAMD15-
-
-
-
3Gain-
SAMD3-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAMD9p.E1273K
Missense
SNP
0.293
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMHD1-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SAP30BP-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAPCD1-
-
-
-
5Amp-
SAR1A-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARS-
-
-
-
3Gain-
SASH1-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SAYSD1-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SBNO1-
-
-
-
3Gain-
SCAF8-
-
-
-
3Gain-
SCAMP1-
-
-
-
1Loss-
SCAMP3-
-
-
-
5Amp-
SCAND1-
-
-
-
3Gain-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCGB1C1-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCGN-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCLY-
-
-
-
1Loss-
SCML4-
-
-
-
1Loss-
SCN4Ap.F1033L
Missense
SNP
0.194
3Gain-
SCNM1-
-
-
-
3Gain-
SCRN1-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCUBE3-
-
-
-
3Gain-
SCX-
-
-
-
1Loss-
SCYL3-
-
-
-
3Gain-
SDC1-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDHAF4-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SDR42E1-
-
-
-
1Loss-
SDR9C7-
-
-
-
3Gain-
SEC14L1-
-
-
-
3Gain-
SEC16B-
-
-
-
3Gain-
SEC22B-
-
-
-
3Gain-
SEC24A-
-
-
-
1Loss-
SEC63-
-
-
-
1Loss-
SECTM1-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENON-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
3Gain-
SEMA4A-
-
-
-
4Gain-
SEMA4B-
-
-
-
3Gain-
SEMA6A-
-
-
-
1Loss-
SEMA6Bp.T326Rfs*16
Frame_Shift_Del
DEL
0.188
2--
SEMA6C-
-
-
-
3Gain-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP6-
-
-
-
1Loss-
SEPT2-
-
-
-
1Loss-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
3Gain-
SEPT9-
-
-
-
3Gain-
SERAC1-
-
-
-
3Gain-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERPINB1-
-
-
-
1Loss-
SERPINB6-
-
-
-
1Loss-
SERPINB9-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SESN1-
-
-
-
1Loss-
SETD1B-
-
-
-
3Gain-
SETD9-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SF3B3-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SF3B5-
-
-
-
1Loss-
SFN-
-
-
-
3Gain-
SFR1-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SFT2D1-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SFTA2-
-
-
-
5Amp-
SFTPC-
-
-
-
1Loss-
SFXN1-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGCZ-
-
-
-
1Loss-
SGK1-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGSH-
-
-
-
3Gain-
SGTB-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3KBP1-
-
-
-
NDNDSH3KBP1--LIPC
SH3PXD2A-
-
-
-
3Gain-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC3p.S114L
Missense
SNP
0.565
2--
SHCBP1-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SHISA4-
-
-
-
5Amp-
SHISAL2B-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT2-
-
-
-
3Gain-
SHPRH-
-
-
-
4Gain-
SHROOM1-
-
-
-
3Gain-
SIAH2-
-
-
-
3Gain-
SIGIRR-
-
-
-
1Loss-
SIGLEC10p.S198*
p.S9W
Nonsense
Missense
SNP
SNP
0.167
0.250
2--
SIKE1-
-
-
-
5Amp-
SIM1-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIRT3-
-
-
-
1Loss-
SIRT4-
-
-
-
3Gain-
SIRT5-
-
-
-
1Loss-
SIRT7-
-
-
-
3Gain-
SIVA1-
-
-
-
3Gain-
SKA2-
-
-
-
3GainSKA2--KPNB1
SKAP2-
-
-
-
3Gain-
SKIV2L-
-
-
-
3Gain-
SKP1-
-
-
-
1Loss-
SLA2-
-
-
-
3Gain-
SLAMF1-
-
-
-
5Amp-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
5Amp-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC12A2-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC16A1-
-
-
-
3Gain-
SLC16A10-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A3-
-
-
-
3Gain-
SLC16A4-
-
-
-
3Gain-
SLC17A1-
-
-
-
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A5-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC20A1-
-
-
-
3Gain-
SLC22A1-
-
-
-
3Gain-
SLC22A11-
-
-
-
3Gain-
SLC22A12-
-
-
-
3Gain-
SLC22A13-
-
-
-
3Gain-
SLC22A14-
-
-
-
3Gain-
SLC22A15-
-
-
-
3Gain-
SLC22A16-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A2-
-
-
-
3Gain-
SLC22A23-
-
-
-
1Loss-
SLC22A3-
-
-
-
3Gain-
SLC22A31-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A7-
-
-
-
6Amp-
SLC25A10-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A2-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A24-
-
-
-
3Gain-
SLC25A27-
-
-
-
3Gain-
SLC25A37-
-
-
-
1Loss-
SLC25A44-
-
-
-
4Gain-
SLC25A46-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC26A11-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A8-
-
-
-
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC29A1-
-
-
-
6Amp-
SLC29A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A12-
-
-
-
1Loss-
SLC2A5-
-
-
-
3Gain-
SLC2A7-
-
-
-
3Gain-
SLC2A8-
-
-
-
3Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A5-
-
-
-
1Loss-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC33A1-
-
-
-
3Gain-
SLC34A1-
-
-
-
1Loss-
SLC35A1-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35B2-
-
-
-
6Amp-
SLC35B3-
-
-
-
1Loss-
SLC35B4-
-
-
-
3Gain-
SLC35D3-
-
-
-
3Gain-
SLC35F1-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35G4-
-
-
-
3Gain-
SLC35G5-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A10-
-
-
-
3Gain-
SLC38A8-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A14-
-
-
-
1Loss-
SLC39A7-
-
-
-
3Gain-
SLC41A1-
-
-
-
3Gain-
SLC44A4-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC46A2-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A9-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
4Gain-
SLC6A17-
-
-
-
3Gain-
SLC6A20-
-
-
-
3Gain-
SLC7A2-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLC9A8-
-
-
-
3Gain-
SLC9A9-
-
-
-
3Gain-
SLC9C2-
-
-
-
3Gain-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLK-
-
-
-
3Gain-
SLPI-
-
-
-
3Gain-
SLU7-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAP1-
-
-
-
1Loss-
SMARCB1p.E178Q
Missense
SNP
0.533
2--
SMARCD2-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMCHD1-
-
-
-
3Gain-
SMCO1-
-
-
-
4Gain-
SMCP-
-
-
-
3Gain-
SMG1p.R2374P
Missense
SNP
0.250
2--
SMG5-
-
-
-
4Gain-
SMG7-
-
-
-
3Gain-
SMG8-
-
-
-
3Gain-
SMIM13-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM29-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMKR1-
-
-
-
3Gain-
SMLR1-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOC2-
-
-
-
3Gain-
SMPD1-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI1-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAP91-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNED1-
-
-
-
1Loss-
SNHG28-
-
-
-
3Gain-
SNRNP27-
-
-
-
3Gain-
SNRNP35-
-
-
-
3Gain-
SNRNP48-
-
-
-
1Loss-
SNRPC-
-
-
-
3Gain-
SNRPD1-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNRPG-
-
-
-
3Gain-
SNTB2-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX14-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX24-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX29p.E755K
Missense
SNP
0.228
2--
SNX3-
-
-
-
1Loss-
SNX30-
-
-
-
3Gain-
SNX31-
-
-
-
5Amp-
SNX8-
-
-
-
3Gain-
SNX9-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOBP-
-
-
-
1Loss-
SOCS3-
-
-
-
3Gain-
SOCS4-
-
-
-
3Gain-
SOD2-
-
-
-
3Gain-
SOGA1-
-
-
-
3Gain-
SORBS3-
-
-
-
1Loss-
SORT1-
-
-
-
3Gain-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPACA1-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG17-
-
-
-
3Gain-
SPAG4-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPATA17-
-
-
-
3Gain-
SPATA19-
-
-
-
1Loss-
SPATA2-
-
-
-
3Gain-
SPATA25-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA9-
-
-
-
1Loss-
SPATS1-
-
-
-
3Gain-
SPDEF-
-
-
-
3Gain-
SPDL1-
-
-
-
1Loss-
SPDYE1-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPG7-
-
-
-
1Loss-
SPHK1-
-
-
-
3Gain-
SPHKAPp.P1411L
Missense
SNP
0.218
2--
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPIRE1-
-
-
-
3Gain-
SPIRE2-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPOCK2-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY4-
-
-
-
1Loss-
SPSB1-
-
-
-
3Gain-
SPSB4-
-
-
-
3Gain-
SPTA1-
-
-
-
3Gain-
SPTBp.E1764K
Missense
SNP
0.189
3Gain-
SPTSSBp.S65L
Missense
SNP
0.554
2--
SPZ1-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRC-
-
-
-
3Gain-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRF-
-
-
-
3Gain-
SRFBP1-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
3Gain-
SRMS-
-
-
-
3Gain-
SRP19-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRPK1-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRRM1-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF12-
-
-
-
1Loss-
SRSF2-
-
-
-
3Gain-
SRSF3-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSH3-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPO-
-
-
-
3Gain-
SSR1-
-
-
-
1Loss-
SSR2-
-
-
-
6Amp-
SSR3-
-
-
-
3Gain-
SSTR5p.A20S
Missense
SNP
0.305
2--
SSU72P2-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
ST3GAL2-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST7L-
-
-
-
3Gain-
ST8SIA4-
-
-
-
1Loss-
STAC3-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STAR-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STAT6-
-
-
-
3Gain-
STAU1-
-
-
-
3Gain-
STC1-
-
-
-
1Loss-
STEAP1B-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIP1-
-
-
-
3Gain-
STK10-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK19-
-
-
-
3Gain-
STK25-
-
-
-
1Loss-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK38-
-
-
-
3Gain-
STK4-
-
-
-
3Gain-
STMN1-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STMND1-
-
-
-
1Loss-
STMP1-
-
-
-
3Gain-
STN1-
-
-
-
3Gain-
STPG1-
-
-
-
3Gain-
STRA8-
-
-
-
3Gain-
STRADA-
-
-
-
3Gain-
STRIP1-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STUM-
-
-
-
3Gain-
STX11-
-
-
-
1Loss-
STX1A-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STXBP1-
-
-
-
3Gain-
STXBP3-
-
-
-
3Gain-
STXBP5-
-
-
-
1Loss-
STYXL1-
-
-
-
3Gain-
SUCNR1-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SUMO4-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUPT3H-
-
-
-
3Gain-
SUSD1-
-
-
-
3Gain-
SUSD4-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYCE1L-
-
-
-
1Loss-
SYCP1-
-
-
-
5Amp-
SYCP2L-
-
-
-
1Loss-
SYF2-
-
-
-
3Gain-
SYN2-
-
-
-
3Gain-
SYNCRIP-
-
-
-
1Loss-
SYNE1-
-
-
-
3Gain-
SYNGAP1-
-
-
-
3Gain-
SYNGR1-
-
-
-
3Gain-
SYNGR2-
-
-
-
3Gain-
SYNJ2-
-
-
-
3Gain-
SYNPO-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYPL2-
-
-
-
3Gain-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT11-
-
-
-
6Amp-
SYT12-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYT6-
-
-
-
3Gain-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL3-
-
-
-
3Gain-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB1-
-
-
-
3Gain-
TAB2-
-
-
-
3Gain-
TAC1-
-
-
-
3Gain-
TAC3-
-
-
-
3Gain-
TACC1-
-
-
-
1Loss-
TACO1-
-
-
-
3Gain-
TADA1-
-
-
-
3Gain-
TAF10-
-
-
-
1Loss-
TAF11-
-
-
-
3Gain-
TAF13-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAF6-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAF8-
-
-
-
6Amp-
TAF9-
-
-
-
1Loss-
TAGAP-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
3Gain-
TANGO6-
-
-
-
1Loss-
TAP1-
-
-
-
3Gain-
TAP2-
-
-
-
3Gain-
TAPBP-
-
-
-
3Gain-
TARBP1-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBATA-
-
-
-
1Loss-
TBC1D10C-
-
-
-
3Gain-
TBC1D16-
-
-
-
3Gain-
TBC1D22B-
-
-
-
3GainTBC1D22B--CMTR1
TBC1D32-
-
-
-
1Loss-
TBC1D7-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCC-
-
-
-
3Gain-
TBCD-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBP-
-
-
-
3Gain-
TBPL1-
-
-
-
1Loss-
TBPL2-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX15-
-
-
-
3Gain-
TBX18-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TBXT-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCERG1-
-
-
-
1Loss-
TCF19-
-
-
-
5Amp-
TCF21-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCP1-
-
-
-
3Gain-
TCP10-
-
-
-
3Gain-
TCP10L2-
-
-
-
3Gain-
TCP11-
-
-
-
3Gain-
TCTE1-
-
-
-
6Amp-
TCTE3-
-
-
-
3Gain-
TCTEX1D2-
-
-
-
4Gain-
TCTN2-
-
-
-
3Gain-
TDGF1-
-
-
-
3Gain-
TDP2-
-
-
-
3Gain-
TDRD1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD6-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TEAD3-
-
-
-
3Gain-
TECPR1-
-
-
-
3Gain-
TEDDM1-
-
-
-
3Gain-
TENM2-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TENT5C-
-
-
-
3Gain-
TEPSIN-
-
-
-
3Gain-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TEX15-
-
-
-
1Loss-
TEX19-
-
-
-
3Gain-
TEX2-
-
-
-
3Gain-
TEX35-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TFAP2A-
-
-
-
1Loss-
TFAP2B-
-
-
-
1Loss-
TFAP2D-
-
-
-
1Loss-
TFB1M-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TFDP2-
-
-
-
3Gain-
TFEB-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TFRC-
-
-
-
4Gain-
TGFB2-
-
-
-
3Gain-
TGFBI-
-
-
-
1Loss-
TGFBRAP1-
-
-
-
3Gain-
TGIF1-
-
-
-
3Gain-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM2-
-
-
-
3Gain-
TGM4-
-
-
-
3Gain-
TH-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THBS2-
-
-
-
3Gain-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMIS-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC1-
-
-
-
3Gain-
THOC3-
-
-
-
1Loss-
THOC5-
-
-
-
5Amp-
THOC6p.S59*
Nonsense
SNP
0.238
2--
THSD7A-
-
-
-
3Gain-
THYN1-
-
-
-
1Loss-
TIA1-
-
-
-
3Gain-
TIAM2-
-
-
-
3Gain-
TIFAB-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM17A-
-
-
-
5Amp-
TIMP2-
-
-
-
3Gain-
TIMP4-
-
-
-
3Gain-
TINAG-
-
-
-
4Gain-
TIPARP-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TJAP1-
-
-
-
6Amp-
TK1-
-
-
-
3Gain-
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLE7-
-
-
-
1Loss-
TLK2p.S748L
Missense
SNP
0.470
2--
TLR5-
-
-
-
3Gain-
TLX3-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
4Gain-
TM4SF19-TCTEX1D2-
-
-
-
4Gain-
TM4SF4-
-
-
-
3Gain-
TMC6-
-
-
-
3Gain-
TMC8-
-
-
-
3Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO6-
-
-
-
1Loss-
TMED2-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED8-
-
-
-
3Gain-
TMED9-
-
-
-
1Loss-
TMEM105-
-
-
-
3Gain-
TMEM106B-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM132Cp.R770P
Missense
SNP
0.253
2--
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM14A-
-
-
-
4Gain-
TMEM14B-
-
-
-
1Loss-
TMEM14C-
-
-
-
1Loss-
TMEM151B-
-
-
-
6Amp-
TMEM158-
-
-
-
3Gain-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM167B-
-
-
-
3Gain-
TMEM168-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM170B-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM181-
-
-
-
3Gain-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM186-
-
-
-
3Gain-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM200A-
-
-
-
1Loss-
TMEM200C-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM217-
-
-
-
3Gain-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM235-
-
-
-
3Gain-
TMEM241-
-
-
-
5Amp-
TMEM242-
-
-
-
3Gain-
TMEM244-
-
-
-
1Loss-
TMEM248-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM30A-
-
-
-
1Loss-
TMEM40-
-
-
-
3Gain-
TMEM42-
-
-
-
3Gain-
TMEM50A-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM63A-
-
-
-
3Gain-
TMEM63B-
-
-
-
6Amp-
TMEM63C-
-
-
-
3Gain-
TMEM79-
-
-
-
4Gain-
TMEM80-
-
-
-
1Loss-
TMEM81-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM9-
-
-
-
3Gain-
TMIGD3-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMUB1-
-
-
-
3Gain-
TNF-
-
-
-
5Amp-
TNFAIP3-
-
-
-
3Gain-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11Bp.Q260E
Missense
SNP
0.139
2--
TNFRSF21-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP1-
-
-
-
1Loss-
TNK2-
-
-
-
4Gain-
TNKS-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC2-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNI2-
-
-
-
1Loss-
TNNT2-
-
-
-
3Gain-
TNNT3-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNR-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6C-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNXB-
-
-
-
3Gain-
TOLLIP-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM34-
-
-
-
3Gain-
TOMM40L-
-
-
-
5Amp-
TOMM6-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOP3B-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TP53-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TPBG-
-
-
-
1Loss-
TPD52L1-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPMT-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRADD-
-
-
-
1Loss-
TRAF3IP1-
-
-
-
1Loss-
TRAF3IP2-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAFD1-
-
-
-
3Gain-
TRAM2-
-
-
-
4Gain-
TRAPPC1-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
1Loss-
TRDN-
-
-
-
1Loss-
TREH-
-
-
-
3Gain-
TREM1-
-
-
-
3Gain-
TREM2-
-
-
-
3Gain-
TREML1-
-
-
-
3Gain-
TREML2-
-
-
-
3Gain-
TREML4-
-
-
-
3Gain-
TRERF1-
-
-
-
6Amp-
TRIAP1-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM10-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM15-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24-
-
-
-
3Gain-
TRIM26-
-
-
-
3Gain-
TRIM27-
-
-
-
3Gain-
TRIM3-
-
-
-
1Loss-
TRIM31-
-
-
-
3Gain-
TRIM33-
-
-
-
5Amp-
TRIM35-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM38-
-
-
-
3Gain-
TRIM39-
-
-
-
5Amp-
TRIM39-RPP21-
-
-
-
5Amp-
TRIM4-
-
-
-
3Gain-
TRIM40-
-
-
-
3Gain-
TRIM41-
-
-
-
1Loss-
TRIM45-
-
-
-
3Gain-
TRIM46-
-
-
-
3Gain-
TRIM5-
-
-
-
1Loss-
TRIM50-
-
-
-
3Gain-
TRIM52-
-
-
-
1Loss-
TRIM56-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM68-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIP6-
-
-
-
3Gain-
TRMT11-
-
-
-
1Loss-
TRMT112-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TRMT9B-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPC7-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPT1-
-
-
-
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TRUB1-
-
-
-
1Loss-
TSACC-
-
-
-
4Gain-
TSC22D2-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHB-
-
-
-
3Gain-
TSLP-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN10-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN17-
-
-
-
1Loss-
TSPAN2-
-
-
-
3Gain-
TSPAN32-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN4-
-
-
-
1Loss-
TSPO2-
-
-
-
3Gain-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSTD1-
-
-
-
8Amp-
TSTD3-
-
-
-
1Loss-
TTBK1-
-
-
-
6Amp-
TTC1-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC16-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTC37-
-
-
-
1Loss-
TTC39C-
-
-
-
3Gain-
TTF2-
-
-
-
3Gain-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
1Loss-
TTK-
-
-
-
1Loss-
TTL-
-
-
-
3Gain-
TTLL13P-
-
-
-
3Gain-
TTLL2-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBB-
-
-
-
5Amp-
TUBB2A-
-
-
-
1Loss-
TUBB2B-
-
-
-
1Loss-
TUBB3-
-
-
-
1Loss-
TUBB6-
-
-
-
3Gain-
TUBE1-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP1-
-
-
-
3Gain-
TULP4-
-
-
-
3Gain-
TUSC3-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWIST2-
-
-
-
1Loss-
TWISTNB-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXLNB-
-
-
-
3Gain-
TXN2-
-
-
-
3Gain-
TXNDC15-
-
-
-
1Loss-
TXNDC2-
-
-
-
3Gain-
TXNDC5-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL4B-
-
-
-
1Loss-
TYMS-
-
-
-
3Gain-
TYSND1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBA5-
-
-
-
3Gain-
UBALD2-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBD-
-
-
-
3Gain-
UBE2B-
-
-
-
1Loss-
UBE2C-
-
-
-
3Gain-
UBE2D4-
-
-
-
3Gain-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2J1-
-
-
-
1Loss-
UBE2L3-
-
-
-
3Gain-
UBE2O-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2T-
-
-
-
5Amp-
UBE2V1-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBE3D-
-
-
-
1Loss-
UBL4B-
-
-
-
3Gain-
UBLCP1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBQLN3-
-
-
-
1Loss-
UBQLN4-
-
-
-
6Amp-
UBQLNL-
-
-
-
1Loss-
UBR2-
-
-
-
3Gain-
UBTD2-
-
-
-
1Loss-
UBXN7-
-
-
-
4Gain-
UBXN8-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UFC1-
-
-
-
8Amp-
UFL1-
-
-
-
1Loss-
UFSP1-
-
-
-
3Gain-
UGCG-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UHRF1BP1-
-
-
-
3Gain-
UIMC1-
-
-
-
1Loss-
ULBP1-
-
-
-
3Gain-
ULBP2-
-
-
-
3Gain-
ULBP3-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNC13Cp.A807D
Missense
SNP
0.333
2--
UNC13D-
-
-
-
3Gain-
UNC5A-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC5CL-
-
-
-
3Gain-
UNC5D-
-
-
-
1Loss-
UNC93A-
-
-
-
3Gain-
UNCX-
-
-
-
3Gain-
UNK-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC2-
-
-
-
3Gain-
UQCR10p.D37H
Missense
SNP
0.160
5Amp-
UQCRQ-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
USF1-
-
-
-
8Amp-
USF3p.Q662E
Missense
SNP
0.258
2--
USH2A-
-
-
-
3Gain-
USP10-
-
-
-
1Loss-
USP14-
-
-
-
3Gain-
USP21-
-
-
-
8Amp-
USP36-
-
-
-
3Gain-
USP42-
-
-
-
3Gain-
USP45-
-
-
-
1Loss-
USP49-
-
-
-
3Gain-
USP7-
-
-
-
3Gain-
UST-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTP4-
-
-
-
1Loss-
UTRN-
-
-
-
1Loss-
UTS2R-
-
-
-
3Gain-
VAC14-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL1-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VAPA-
-
-
-
3Gain-
VARS-
-
-
-
5Amp-
VARS2-
-
-
-
5Amp-
VASH2-
-
-
-
3Gain-
VAT1L-
-
-
-
1Loss-
VAV3-
-
-
-
3Gain-
VCAN-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VEGFA-
-
-
-
6Amp-
VEGFB-
-
-
-
3Gain-
VEPH1-
-
-
-
3Gain-
VGF-
-
-
-
3Gain-
VGLL2-
-
-
-
1Loss-
VGLL4-
-
-
-
3Gain-
VHLL-
-
-
-
4Gain-
VILL-
-
-
-
3Gain-
VIP-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VMP1-
-
-
-
3Gain-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VPREB1-
-
-
-
3Gain-
VPS26B-
-
-
-
1Loss-
VPS33A-
-
-
-
3Gain-
VPS35-
-
-
-
3Gain-
VPS37A-
-
-
-
1Loss-
VPS37B-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS50-
-
-
-
3Gain-
VPS52-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSIR-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSTM2L-
-
-
-
3Gain-
VTA1-
-
-
-
1Loss-
VTCN1-
-
-
-
3Gain-
VWA2-
-
-
-
1Loss-
VWA7-
-
-
-
5Amp-
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
WARS2-
-
-
-
3Gain-
WASF1-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WDHD1-
-
-
-
3Gain-
WDR26-
-
-
-
3Gain-
WDR27-
-
-
-
3Gain-
WDR3-
-
-
-
3Gain-
WDR31-
-
-
-
3Gain-
WDR35-
-
-
-
3Gain-
WDR36-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR45B-
-
-
-
3Gain-
WDR46-
-
-
-
3Gain-
WDR47-
-
-
-
3Gain-
WDR53-
-
-
-
4Gain-
WDR55-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR77-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR87-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WFDC1-
-
-
-
1Loss-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP3-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT2B-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
WNT8A-
-
-
-
1Loss-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WRNIP1-
-
-
-
1Loss-
WTAP-
-
-
-
3Gain-
WWC1-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
WWTR1-
-
-
-
3Gain-
XAGE2-
-
-
-
NDNDAL590240.1--XAGE2
XBP1-
-
-
-
5Amp-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
3Gain-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XPO5-
-
-
-
6Amp-
XPO7-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRCC4-
-
-
-
1Loss-
XRN1-
-
-
-
3Gain-
XYLBp.S490L
Missense
SNP
0.155
3Gain-
YAE1-
-
-
-
3Gain-
YDJC-
-
-
-
3Gain-
YES1-
-
-
-
3Gain-
YIPF3-
-
-
-
6Amp-
YIPF5-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YPEL1-
-
-
-
3Gain-
YPEL2-
-
-
-
3Gain-
YTHDC2-
-
-
-
1Loss-
YWHAB-
-
-
-
3Gain-
YWHAG-
-
-
-
3Gain-
YWHAZ-
-
-
-
5Amp-
YY1AP1-
-
-
-
6Amp-
Z84488.2-
-
-
-
1Loss-
ZAN-
-
-
-
3Gain-
ZBED3-
-
-
-
1Loss-
ZBED6-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBED9-
-
-
-
3Gain-
ZBTB1-
-
-
-
3Gain-
ZBTB12-
-
-
-
3Gain-
ZBTB14-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB2-
-
-
-
3Gain-
ZBTB22-
-
-
-
3Gain-
ZBTB24-
-
-
-
1Loss-
ZBTB25-
-
-
-
3Gain-
ZBTB34-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB38-
-
-
-
3Gain-
ZBTB39-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
3Gain-
ZBTB43-
-
-
-
3Gain-
ZBTB7B-
-
-
-
3Gain-
ZBTB9-
-
-
-
3Gain-
ZC2HC1B-
-
-
-
1Loss-
ZC3H11A-
-
-
-
3Gain-
ZC3H12D-
-
-
-
3Gain-
ZC3H13-
-
-
-
3Gain-
ZC3H18-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
3Gain-
ZCCHC14-
-
-
-
1Loss-
ZCCHC8-
-
-
-
3Gain-
ZCCHC9-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZDHHC1-
-
-
-
1Loss-
ZDHHC14-
-
-
-
3Gain-
ZDHHC18-
-
-
-
3Gain-
ZDHHC19-
-
-
-
4Gain-
ZDHHC2-
-
-
-
1Loss-
ZDHHC22-
-
-
-
3Gain-
ZDHHC3-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZDHHC7-
-
-
-
1Loss-
ZFAND2A-
-
-
-
3Gain-
ZFAND3-
-
-
-
3Gain-
ZFHX3-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP14-
-
-
-
3Gain-
ZFP2-
-
-
-
1Loss-
ZFP30-
-
-
-
3Gain-
ZFP36L1p.S294Afs*13
Frame_Shift_Del
DEL
0.500
3Gain-
ZFP37-
-
-
-
3Gain-
ZFP57-
-
-
-
3Gain-
ZFP62-
-
-
-
1Loss-
ZFP82-
-
-
-
3Gain-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZIC1-
-
-
-
3Gain-
ZIC4-
-
-
-
3Gain-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN3-
-
-
-
3Gain-
ZKSCAN4-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN8-
-
-
-
3Gain-
ZMAT2-
-
-
-
1Loss-
ZMAT5-
-
-
-
5Amp-
ZMIZ2-
-
-
-
3Gain-
ZNF100-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF136-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF146-
-
-
-
3Gain-
ZNF160-
-
-
-
3Gain-
ZNF165-
-
-
-
3Gain-
ZNF180p.Q535K
Missense
SNP
0.169
2--
ZNF184-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF20-
-
-
-
3Gain-
ZNF208-
-
-
-
3Gain-
ZNF212-
-
-
-
3Gain-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF253-
-
-
-
3Gain-
ZNF254-
-
-
-
3Gain-
ZNF257-
-
-
-
3Gain-
ZNF260-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF28-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF292-
-
-
-
1Loss-
ZNF3-
-
-
-
3Gain-
ZNF300-
-
-
-
1Loss-
ZNF311-
-
-
-
3Gain-
ZNF318-
-
-
-
6Amp-
ZNF320-
-
-
-
3Gain-
ZNF322-
-
-
-
3Gain-
ZNF331-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF345-
-
-
-
3Gain-
ZNF346-
-
-
-
1Loss-
ZNF347-
-
-
-
3Gain-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF365-
-
-
-
3Gain-
ZNF366-
-
-
-
1Loss-
ZNF382-
-
-
-
3Gain-
ZNF383-
-
-
-
3Gain-
ZNF391-
-
-
-
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF395-
-
-
-
1Loss-
ZNF398-
-
-
-
3Gain-
ZNF415-
-
-
-
3Gain-
ZNF420-
-
-
-
3Gain-
ZNF425-
-
-
-
3Gain-
ZNF429-
-
-
-
3Gain-
ZNF43-
-
-
-
3Gain-
ZNF430-
-
-
-
3Gain-
ZNF431-
-
-
-
3Gain-
ZNF433-
-
-
-
3Gain-
ZNF438p.D391N
Missense
SNP
0.250
2--
ZNF439-
-
-
-
3Gain-
ZNF44-
-
-
-
3Gain-
ZNF440-
-
-
-
3Gain-
ZNF442-
-
-
-
3Gain-
ZNF443-
-
-
-
3Gain-
ZNF451-
-
-
-
4Gain-
ZNF454-
-
-
-
1Loss-
ZNF461p.G521E
Missense
SNP
0.276
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF468-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF480-
-
-
-
3Gain-
ZNF486-
-
-
-
3Gain-
ZNF492-
-
-
-
3Gain-
ZNF493-
-
-
-
3Gain-
ZNF496-
-
-
-
3Gain-
ZNF501-
-
-
-
3Gain-
ZNF506-
-
-
-
3Gain-
ZNF519-
-
-
-
3Gain-
ZNF525-
-
-
-
3Gain-
ZNF527-
-
-
-
3Gain-
ZNF528-
-
-
-
3Gain-
ZNF529-
-
-
-
3Gain-
ZNF534-
-
-
-
3Gain-
ZNF540-
-
-
-
3Gain-
ZNF563-
-
-
-
3Gain-
ZNF564-
-
-
-
3Gain-
ZNF566-
-
-
-
3Gain-
ZNF567-
-
-
-
3Gain-
ZNF568-
-
-
-
3Gain-
ZNF569-
-
-
-
3Gain-
ZNF570-
-
-
-
3Gain-
ZNF571-
-
-
-
3Gain-
ZNF573-
-
-
-
3Gain-
ZNF578-
-
-
-
3Gain-
ZNF585A-
-
-
-
3Gain-
ZNF585B-
-
-
-
3Gain-
ZNF596-
-
-
-
1Loss-
ZNF600-
-
-
-
3Gain-
ZNF607-
-
-
-
3Gain-
ZNF608-
-
-
-
1Loss-
ZNF610-
-
-
-
3Gain-
ZNF611-
-
-
-
3Gain-
ZNF616-
-
-
-
3Gain-
ZNF618-
-
-
-
3Gain-
ZNF625-
-
-
-
3Gain-
ZNF625-ZNF20-
-
-
-
3Gain-
ZNF626-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF66-
-
-
-
3Gain-
ZNF664-
-
-
-
3Gain-
ZNF665-
-
-
-
3Gain-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF675-
-
-
-
3Gain-
ZNF676-
-
-
-
3Gain-
ZNF677-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF681-
-
-
-
3Gain-
ZNF682-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF69-
-
-
-
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF697-
-
-
-
3Gain-
ZNF700-
-
-
-
3Gain-
ZNF701-
-
-
-
3Gain-
ZNF703-
-
-
-
1Loss-
ZNF708-
-
-
-
3Gain-
ZNF709-
-
-
-
3Gain-
ZNF710-
-
-
-
3Gain-
ZNF714-
-
-
-
3Gain-
ZNF723-
-
-
-
3Gain-
ZNF724-
-
-
-
3Gain-
ZNF726-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF728-
-
-
-
3Gain-
ZNF729-
-
-
-
3Gain-
ZNF730-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF737-
-
-
-
3Gain-
ZNF738-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF750-
-
-
-
3Gain-
ZNF76-
-
-
-
3Gain-
ZNF761-
-
-
-
3Gain-
ZNF763-
-
-
-
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF766-
-
-
-
3Gain-
ZNF774-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF781-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF79-
-
-
-
3Gain-
ZNF790-
-
-
-
3Gain-
ZNF793-
-
-
-
3Gain-
ZNF799-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804Bp.H1280Y
Missense
SNP
0.236
2--
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF821-
-
-
-
1Loss-
ZNF829-
-
-
-
3Gain-
ZNF83-
-
-
-
3Gain-
ZNF836-
-
-
-
3Gain-
ZNF841-
-
-
-
3Gain-
ZNF844-
-
-
-
3Gain-
ZNF845-
-
-
-
3Gain-
ZNF85-
-
-
-
3Gain-
ZNF850-
-
-
-
3Gain-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF878-
-
-
-
3Gain-
ZNF879-
-
-
-
1Loss-
ZNF880-
-
-
-
3Gain-
ZNF883-
-
-
-
3Gain-
ZNF888-
-
-
-
3Gain-
ZNF90-
-
-
-
3Gain-
ZNF91-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNF93-
-
-
-
3Gain-
ZNF98-
-
-
-
3Gain-
ZNF99-
-
-
-
3Gain-
ZNFX1-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRD1-
-
-
-
3Gain-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
5Amp-
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZSCAN12-
-
-
-
3Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN23-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN26-
-
-
-
3Gain-
ZSCAN31-
-
-
-
3Gain-
ZSCAN9p.R409T
Missense
SNP
0.165
3Gain-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZSWIM6-
-
-
-
1Loss-
ZUP1-
-
-
-
1Loss-
ZYX-
-
-
-
3Gain-