PDMR-182917~245-R~JXKE25NE7-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
AADAT-
-
-
-
1Loss-
AAMDC-
-
-
-
0Del-
AANATp.R199P
Missense
SNP
0.385
2--
AARS-
-
-
-
1Loss-
AASDH-
-
-
-
1Loss-
AASDHPPT-
-
-
-
0Del-
AASS-
-
-
-
5Amp-
ABAT-
-
-
-
1Loss-
ABCA12p.P1140S
Missense
SNP
0.532
2--
ABCA13-
-
-
-
1Loss-
ABCA2p.R1694W
Missense
SNP
0.520
2--
ABCA3-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB1p.E468K
Missense
SNP
0.262
4Gain-
ABCB4-
-
-
-
4Gain-
ABCB5-
-
-
-
1Loss-
ABCB8-
-
-
-
7Amp-
ABCC1-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCC6-
-
-
-
1Loss-
ABCC8-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCF2-
-
-
-
7Amp-
ABCG2-
-
-
-
1Loss-
ABCG4-
-
-
-
0Del-
ABHD11-
-
-
-
3Gain-
ABHD12B-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD18-
-
-
-
1Loss-
ABHD3-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABLIM1-
-
-
-
1Loss-
ABLIM2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB2-
-
-
-
1Loss-
AC000120.2-
-
-
-
6Amp-
AC000120.3-
-
-
-
6Amp-
AC002310.4-
-
-
-
1Loss-
AC002310.5-
-
-
-
1Loss-
AC004080.3-
-
-
-
1Loss-
AC004593.3-
-
-
-
1Loss-
AC004691.2-
-
-
-
1Loss-
AC004754.1-
-
-
-
1Loss-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
7Amp-
AC005154.5-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009086.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC010132.3-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
5Amp-
AC012184.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC019117.2-
-
-
-
1Loss-
AC021097.2-
-
-
-
7Amp-
AC021097.3-
-
-
-
7Amp-
AC022400.6-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC040162.1-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
4Gain-
AC068580.4-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC073111.3-
-
-
-
7Amp-
AC073111.5-
-
-
-
7Amp-
AC074143.1-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092634.5-
-
-
-
NDNDPDAP1--AC092634.5
AC092647.5-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093155.3-
-
-
-
1Loss-
AC093323.1-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC093512.2-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC093668.1-
-
-
-
5Amp-
AC093668.2-
-
-
-
5Amp-
AC093668.3-
-
-
-
5Amp-
AC093827.5-
-
-
-
1Loss-
AC097634.4-
-
-
-
3Gain-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
3Gain-
AC099489.1-
-
-
-
1Loss-
AC104109.3-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
5Amp-
AC105052.3-
-
-
-
5Amp-
AC106886.5-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC113348.2-
-
-
-
1Loss-
AC115220.1-
-
-
-
5Amp-
AC116366.3-
-
-
-
1Loss-
AC118549.1-
-
-
-
1Loss-
AC119674.2-
-
-
-
1Loss-
AC120114.4-
-
-
-
1Loss-
AC126283.2-
-
-
-
1Loss-
AC135050.2-
-
-
-
1Loss-
AC136428.1-
-
-
-
1Loss-
AC138811.2-
-
-
-
1Loss-
AC138894.1-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
AC140504.1-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACAD8-
-
-
-
0Del-
ACADM-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACAT1-
-
-
-
0Del-
ACBD7-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACD-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACHE-
-
-
-
5Amp-
ACIN1-
-
-
-
1Loss-
ACO1-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACRV1-
-
-
-
0Del-
ACSF3-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM1-
-
-
-
1Loss-
ACSM2A-
-
-
-
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTB-
-
-
-
1Loss-
ACTBL2-
-
-
-
1Loss-
ACTL6B-
-
-
-
5Amp-
ACTN1-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR3B-
-
-
-
4Gain-
ACTR3C-
-
-
-
7Amp-
ACY3-
-
-
-
1Loss-
ACYP1-
-
-
-
1Loss-
ADAD1-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM22-
-
-
-
5Amp-
ADAM29-
-
-
-
1Loss-
ADAM8-
-
-
-
1Loss-
ADAMTS12-
-
-
-
1Loss-
ADAMTS14-
-
-
-
1Loss-
ADAMTS15-
-
-
-
0Del-
ADAMTS16-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS20p.E915K
Missense
SNP
0.446
2--
ADAMTS3-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS8-
-
-
-
0Del-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
1Loss-
ADARB2-
-
-
-
3Gain-
ADAT1-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK2-
-
-
-
7Amp-
ADCY1-
-
-
-
1Loss-
ADCY2-
-
-
-
1Loss-
ADCY4-
-
-
-
1Loss-
ADCY7-
-
-
-
1Loss-
ADCY9-
-
-
-
1Loss-
ADCYAP1-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
1Loss-
ADD1-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRL2-
-
-
-
1Loss-
ADGRL3-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA2A-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
AEBP1-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG3L2-
-
-
-
1Loss-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP3-
-
-
-
7Amp-
AGBL2-
-
-
-
1Loss-
AGBL3-
-
-
-
3Gain-
AGFG2-
-
-
-
7Amp-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
7Amp-
AGMO-
-
-
-
1Loss-
AGR2-
-
-
-
1Loss-
AGR3-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AGXT2-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHDC1p.A1442V
Missense
SNP
0.489
2--
AHR-
-
-
-
1Loss-
AHRR-
-
-
-
1Loss-
AHSA1-
-
-
-
1Loss-
AHSP-
-
-
-
1Loss-
AIFM2-
-
-
-
1Loss-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
1Loss-
AIP-
-
-
-
1Loss-
AJUBA-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK4-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AKAIN1-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKAP9-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1D1-
-
-
-
7Amp-
AKR1E2-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL031708.1-
-
-
-
1Loss-
AL035078.4-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL110118.2-
-
-
-
1Loss-
AL121594.1-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL157392.5-
-
-
-
3Gain-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL513165.2-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
ALB-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH6A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALDOA-
-
-
-
1Loss-
ALG1-
-
-
-
1Loss-
ALG6-
-
-
-
1Loss-
ALG8-
-
-
-
2-FADS3--ALG8
ALG9-
-
-
-
0Del-
ALKBH1-
-
-
-
1Loss-
ALKBH3-
-
-
-
1Loss-
ALKBH4-
-
-
-
5Amp-
ALKBH8-
-
-
-
0Del-
ALOX5-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
AMACR-
-
-
-
1Loss-
AMBN-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMDHD2-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMOTL1-
-
-
-
0Del-
AMPD3-
-
-
-
1Loss-
AMPH-
-
-
-
1Loss-
AMTN-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
AMZ1-
-
-
-
1Loss-
ANAPC10-
-
-
-
1Loss-
ANAPC15-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGPTL3-
-
-
-
1Loss-
ANGPTL5-
-
-
-
0Del-
ANK2-
-
-
-
1Loss-
ANK3-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKH-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
6Amp-
ANKK1-
-
-
-
0Del-
ANKMY2-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD12-
-
-
-
1Loss-
ANKRD13C-
-
-
-
1Loss-
ANKRD13D-
-
-
-
1Loss-
ANKRD16-
-
-
-
3Gain-
ANKRD17-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD20A2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD29-
-
-
-
1Loss-
ANKRD30B-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD33B-
-
-
-
1Loss-
ANKRD34B-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD42-
-
-
-
0Del-
ANKRD49-
-
-
-
0Del-
ANKRD50-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD61-
-
-
-
1Loss-
ANKRD62-
-
-
-
1Loss-
ANKRD7-
-
-
-
5Amp-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANLN-
-
-
-
1Loss-
ANO1-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA10-
-
-
-
1Loss-
ANXA11-
-
-
-
1Loss-
ANXA2R-
-
-
-
1Loss-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AOAH-
-
-
-
1Loss-
AOC1-
-
-
-
7Amp-
AP000646.1-
-
-
-
0Del-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
0Del-
AP001273.2-
-
-
-
0Del-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
0Del-
AP001931.1-
-
-
-
1Loss-
AP002373.1-
-
-
-
0Del-
AP002495.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002884.3-
-
-
-
0Del-
AP003419.1-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1S1-
-
-
-
5Amp-
AP2A2-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP4M1-
-
-
-
7Amp-
AP4S1-
-
-
-
1Loss-
AP5B1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
AP5Z1-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1-
-
-
-
1Loss-
APEX1-
-
-
-
1Loss-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLNR-
-
-
-
1Loss-
APLP2-
-
-
-
0Del-
APOA1-
-
-
-
0Del-
APOA4-
-
-
-
0Del-
APOA5-
-
-
-
0Del-
APOBR-
-
-
-
1Loss-
APOC3-
-
-
-
0Del-
APRT-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP1-
-
-
-
1Loss-
AQP11-
-
-
-
0Del-
AQP3-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
AQP8-
-
-
-
1Loss-
ARAP1-
-
-
-
3Gain-
ARAP2-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARCN1-
-
-
-
0Del-
AREG-
-
-
-
1Loss-
AREL1-
-
-
-
1Loss-
ARF5-
-
-
-
5Amp-
ARF6-
-
-
-
1Loss-
ARFGAP2-
-
-
-
1Loss-
ARFIP1-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARG2-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
1Loss-
ARHGAP17-
-
-
-
1Loss-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
0Del-
ARHGAP22-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP28-
-
-
-
1Loss-
ARHGAP32-
-
-
-
0Del-
ARHGAP42-
-
-
-
0Del-
ARHGAP45-
-
-
-
1Loss-
ARHGAP5-
-
-
-
1Loss-
ARHGDIG-
-
-
-
1Loss-
ARHGEF12-
-
-
-
0Del-
ARHGEF17-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARHGEF39-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARHGEF5-
-
-
-
7Amp-
ARID3A-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARID5B-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL14EP-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4A-
-
-
-
1Loss-
ARL6IP1-
-
-
-
1Loss-
ARL6IP5-
-
-
-
3Gain-
ARL9-
-
-
-
1Loss-
ARMC10-
-
-
-
5Amp-
ARMC4p.E22K
Missense
SNP
0.532
2--
ARMC5-
-
-
-
1Loss-
ARMH3-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNTL-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARRB1-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSJ-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASB10-
-
-
-
7Amp-
ASB13-
-
-
-
3Gain-
ASB15-
-
-
-
5Amp-
ASB17-
-
-
-
1Loss-
ASB2-
-
-
-
1Loss-
ASB4-
-
-
-
6Amp-
ASB5-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASIC3-
-
-
-
7Amp-
ASIC5-
-
-
-
1Loss-
ASL-
-
-
-
4Gain-
ASNS-
-
-
-
6Amp-
ASPHD1-
-
-
-
1Loss-
ASRGL1-
-
-
-
5Amp-
ASUNp.T261A
Missense
SNP
0.484
NDND-
ASXL3-
-
-
-
1Loss-
ASZ1-
-
-
-
5Amp-
ATAD1-
-
-
-
1Loss-
ATCAY-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF7IP2-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG13-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG16L2-
-
-
-
1Loss-
ATG2A-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG4C-
-
-
-
1Loss-
ATG9B-
-
-
-
7Amp-
ATL1-
-
-
-
1Loss-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
0Del-
ATMIN-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP13A3p.P847S
Missense
SNP
0.551
2--
ATP2A1-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1C-
-
-
-
3Gain-
ATP5F1D-
-
-
-
1Loss-
ATP5MD-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP5MF-
-
-
-
7Amp-
ATP5MF-PTCD1-
-
-
-
7Amp-
ATP5MG-
-
-
-
0Del-
ATP5S-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
7Amp-
ATP6V0C-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0E1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
7Amp-
ATP6V1D-
-
-
-
1Loss-
ATP6V1F-
-
-
-
5Amp-
ATP6V1FNB-
-
-
-
5Amp-
ATP8A1-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B3-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN2L-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7L1-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AVL9-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
AXIN1-
-
-
-
1Loss-
AZGP1-
-
-
-
7Amp-
AZU1-
-
-
-
1Loss-
B3GALT1p.E310K
Missense
SNP
0.439
2--
B3GAT1-
-
-
-
0Del-
B3GAT3-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT6-
-
-
-
1Loss-
B4GALT7-
-
-
-
1Loss-
B4GAT1-
-
-
-
1Loss-
BACE1-
-
-
-
0Del-
BAD-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
6AmpCADPS2--BAIAP2L1
BAIAP3-
-
-
-
1Loss-
BANF1-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BARHL2-
-
-
-
1Loss-
BARX2-
-
-
-
0Del-
BASP1-
-
-
-
1Loss-
BATF-
-
-
-
1Loss-
BATF2-
-
-
-
1Loss-
BAZ1A-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS1-
-
-
-
1Loss-
BBS12-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
1Loss-
BCAP29-
-
-
-
7AmpBCAP29--BRAF
BCAR1-
-
-
-
1Loss-
BCAR3-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCKDK-
-
-
-
1Loss-
BCL10-
-
-
-
1Loss-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL7C-
-
-
-
1Loss-
BCL9L-
-
-
-
0Del-
BCLAF1p.S274F
Missense
SNP
0.244
2--
BCO1-
-
-
-
1Loss-
BCO2-
-
-
-
0Del-
BDH2-
-
-
-
1Loss-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND7-
-
-
-
3Gain-
BEST1-
-
-
-
5Amp-
BET1-
-
-
-
6Amp-
BET1L-
-
-
-
1Loss-
BFAR-
-
-
-
1Loss-
BFSP1p.P461S
Missense
SNP
0.401
2--
BHLHA15-
-
-
-
6Amp-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICDL2-
-
-
-
1Loss-
BIRC2-
-
-
-
0Del-
BIRC3-
-
-
-
0Del-
BLID-
-
-
-
0Del-
BLNK-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLVRA-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BMPER-
-
-
-
1Loss-
BMPR1A-
-
-
-
1Loss-
BMPR1B-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
5AmpBMT2--VPS50
BNC2-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BOD1-
-
-
-
1Loss-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BRAF-
-
-
-
7AmpBRAF--POT1
BCAP29--BRAF
BRAPp.T76I
Missense
SNP
0.513
2--
BRAT1-
-
-
-
1Loss-
BRD7-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
1Loss-
BRDT-
-
-
-
1Loss-
BRI3-
-
-
-
6Amp-
BRICD5-
-
-
-
1Loss-
BRINP2p.E103K
Missense
SNP
0.448
2--
BRIX1-
-
-
-
1Loss-
BRMS1-
-
-
-
1Loss-
BRMS1L-
-
-
-
1Loss-
BRSK2-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSND-
-
-
-
1Loss-
BST1-
-
-
-
1Loss-
BSX-
-
-
-
0Del-
BTAF1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD18-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTBD8-
-
-
-
1Loss-
BTC-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG4-
-
-
-
0Del-
BTNL3-
-
-
-
1Loss-
BTNL8p.E218K
Missense
SNP
1.000
1Loss-
BTNL9-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD13-
-
-
-
0Del-
BUD23-
-
-
-
3Gain-
BZW2-
-
-
-
1Loss-
C10orf105-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf1-
-
-
-
0Del-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf24-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
0Del-
C11orf49-
-
-
-
1Loss-
C11orf52-
-
-
-
0Del-
C11orf53-
-
-
-
0Del-
C11orf54-
-
-
-
0Del-
C11orf58-
-
-
-
1Loss-
C11orf65-
-
-
-
0Del-
C11orf68-
-
-
-
1Loss-
C11orf71-
-
-
-
0Del-
C11orf74-
-
-
-
1Loss-
C11orf86-
-
-
-
1Loss-
C11orf87-
-
-
-
0Del-
C11orf88-
-
-
-
0Del-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C11orf97-
-
-
-
0Del-
C11orf98-
-
-
-
1Loss-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf159p.S590L
Missense
SNP
1.000
NDND-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C16orf45-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf54-
-
-
-
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf72-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf91-
-
-
-
1Loss-
C16orf92-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1GALT1-
-
-
-
1Loss-
C1orf141-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf52-
-
-
-
1Loss-
C1orf87-
-
-
-
1Loss-
C1QL3-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
1Loss-
C1QTNF3-AMACR-
-
-
-
1Loss-
C1QTNF4-
-
-
-
1Loss-
C1QTNF5-
-
-
-
0Del-
C1QTNF7-
-
-
-
1Loss-
C1QTNF8-
-
-
-
1Loss-
C2CD2L-
-
-
-
0Del-
C2CD3-
-
-
-
1Loss-
C4orf17-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
1Loss-
C5orf38-
-
-
-
1Loss-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
1Loss-
C5orf51-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6-
-
-
-
1Loss-
C7-
-
-
-
1Loss-
C7orf25-
-
-
-
1Loss-
C7orf26-
-
-
-
1Loss-
C7orf31-
-
-
-
1Loss-
C7orf33-
-
-
-
7Amp-
C7orf43-
-
-
-
4Gain-
C7orf50-
-
-
-
1Loss-
C7orf55-LUC7L2-
-
-
-
7Amp-
C7orf57-
-
-
-
1Loss-
C7orf61-
-
-
-
7Amp-
C7orf77-
-
-
-
5Amp-
C8A-
-
-
-
1Loss-
C8B-
-
-
-
1Loss-
C9-
-
-
-
1Loss-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CABLES1-
-
-
-
1Loss-
CABP2-
-
-
-
1Loss-
CABP4-
-
-
-
1Loss-
CABS1-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACHD1-
-
-
-
1Loss-
CACNA1H-
-
-
-
1Loss-
CACNA1Sp.P1740L
Missense
SNP
0.504
2--
CACNA2D1-
-
-
-
5AmpCOG5--CACNA2D1
CACNG3-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CADM1-
-
-
-
0Del-
CADM2-
-
-
-
3Gain-
CADPS2-
-
-
-
5AmpCADPS2--BAIAP2L1
CALB2-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCR-
-
-
-
6Amp-
CALD1-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALN1-
-
-
-
3GainSTAG3L1--CALN1
CALU-
-
-
-
5Amp-
CALY-
-
-
-
1Loss-
CAMK1D-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
1Loss-
CAMK2D-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CANX-
-
-
-
1Loss-
CAPN1-
-
-
-
1Loss-
CAPN15-
-
-
-
1Loss-
CAPNS2-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPSL-
-
-
-
1Loss-
CAPZA2-
-
-
-
5AmpCAPZA2--MAGI2
CARD11-
-
-
-
1Loss-
CARD16-
-
-
-
0Del-
CARD17-
-
-
-
0Del-
CARD18-
-
-
-
0Del-
CARD6-
-
-
-
1Loss-
CARHSP1-
-
-
-
1Loss-
CARMIL2-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARNS1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASD1-
-
-
-
6Amp-
CASKIN1-
-
-
-
1Loss-
CASP1-
-
-
-
0Del-
CASP12-
-
-
-
0Del-
CASP2-
-
-
-
7Amp-
CASP3-
-
-
-
1Loss-
CASP4-
-
-
-
0Del-
CASP5-
-
-
-
0Del-
CASP6-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CAST-
-
-
-
1Loss-
CASTOR2-
-
-
-
1Loss-
CASTOR3-
-
-
-
7Amp-
CAT-
-
-
-
1Loss-
CATSPER1-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CATSPERZ-
-
-
-
1Loss-
CAV1-
-
-
-
5Amp-
CAV2-
-
-
-
5Amp-
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBL-
-
-
-
0Del-
CBLL1-
-
-
-
5Amp-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBR4-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBX3-
-
-
-
1Loss-
CBY3-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC110-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
1Loss-
CCDC127-
-
-
-
1Loss-
CCDC136-
-
-
-
5Amp-
CCDC144A-
-
-
-
3Gain-
CCDC146-
-
-
-
6Amp-
CCDC149-
-
-
-
1Loss-
CCDC15-
-
-
-
0Del-
CCDC152-
-
-
-
1Loss-
CCDC153-
-
-
-
0Del-
CCDC154-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC172-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC18-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC189-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC3-
-
-
-
3Gain-
CCDC30p.R627C
Missense
SNP
0.464
2--
CCDC34-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC71L-
-
-
-
5Amp-
CCDC73-
-
-
-
1Loss-
CCDC78-
-
-
-
1Loss-
CCDC82-
-
-
-
0Del-
CCDC83-
-
-
-
0Del-
CCDC84-
-
-
-
0Del-
CCDC85B-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC86-
-
-
-
3Gain-
CCDC88B-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCDC89-
-
-
-
0Del-
CCDC90B-
-
-
-
0Del-
CCDC96-
-
-
-
1Loss-
CCIN-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL24-
-
-
-
6Amp-
CCL26-
-
-
-
6Amp-
CCL27p.R74H
Missense
SNP
1.000
1Loss-
CCL28-
-
-
-
1Loss-
CCM2-
-
-
-
1Loss-
CCNA2-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCND1-
-
-
-
3Gain-
CCNF-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCP110-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCSER2-
-
-
-
1Loss-
CCT5-
-
-
-
1Loss-
CCT6A-
-
-
-
1Loss-
CCZ1-
-
-
-
1Loss-
CCZ1B-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD180p.E46K
Missense
SNP
1.000
1Loss-
CD19-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD248-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD2BP2-
-
-
-
1Loss-
CD36-
-
-
-
5Amp-
CD38-
-
-
-
1Loss-
CD3D-
-
-
-
0Del-
CD3E-
-
-
-
0Del-
CD3G-
-
-
-
0Del-
CD44-
-
-
-
1Loss-
CD59-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CDC123-
-
-
-
3Gain-
CDC14C-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC42BPG-
-
-
-
1Loss-
CDC42EP2-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDC7-
-
-
-
1Loss-
CDCA5-
-
-
-
1Loss-
CDCA7L-
-
-
-
1Loss-
CDH1-
-
-
-
1Loss-
CDH10p.E163K
Missense
SNP
1.000
1Loss-
CDH11-
-
-
-
1Loss-
CDH12-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH18-
-
-
-
1Loss-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH23-
-
-
-
1Loss-
CDH24-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
1Loss-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDH9-
-
-
-
1Loss-
CDHR1-
-
-
-
1Loss-
CDHR2-
-
-
-
1Loss-
CDHR3-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK13-
-
-
-
1Loss-
CDK14-
-
-
-
1LossNSUN5P1--CDK14
CDK2AP2-
-
-
-
1Loss-
CDK5-
-
-
-
7Amp-
CDK6-
-
-
-
6Amp-
CDK7-
-
-
-
1Loss-
CDKL1-
-
-
-
1Loss-
CDKL2-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDNF-
-
-
-
3Gain-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
0Del-
CDR2-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEBPE-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELF2-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CEMP1-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP126-
-
-
-
0Del-
CEP128-
-
-
-
1Loss-
CEP135-
-
-
-
1Loss-
CEP164-
-
-
-
0Del-
CEP192-
-
-
-
1Loss-
CEP295-
-
-
-
0Del-
CEP41-
-
-
-
7Amp-
CEP44-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CEP57-
-
-
-
0Del-
CEP72-
-
-
-
1Loss-
CEP76-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN1-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP20-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP300-
-
-
-
0Del-
CFAP43-
-
-
-
1Loss-
CFAP46-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP58-
-
-
-
1Loss-
CFAP69-
-
-
-
1Loss-
CFAP70-
-
-
-
1Loss-
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFI-
-
-
-
1Loss-
CFL1-
-
-
-
1Loss-
CFL2-
-
-
-
1Loss-
CFTR-
-
-
-
5Amp-
CGRRF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD2-
-
-
-
1Loss-
CHCHD3-
-
-
-
7Amp-
CHD1-
-
-
-
1Loss-
CHD8-
-
-
-
1Loss-
CHD9-
-
-
-
1Loss-
CHEK1-
-
-
-
0Del-
CHGA-
-
-
-
1Loss-
CHIC2-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHKA-
-
-
-
1Loss-
CHMP1A-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP5-
-
-
-
1Loss-
CHN2-
-
-
-
1Loss-
CHORDC1-
-
-
-
0Del-
CHP2-
-
-
-
1Loss-
CHPF2-
-
-
-
7Amp-
CHRDL2-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM2-
-
-
-
4Gain-
CHRM4-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA9-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST12-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTF18-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAO3-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CIITA-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCF1-
-
-
-
1Loss-
CLCN1-
-
-
-
7Amp-
CLCN3-
-
-
-
1Loss-
CLCN7-
-
-
-
1Loss-
CLDN12-
-
-
-
1Loss-
CLDN15-
-
-
-
5Amp-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
0Del-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN6-
-
-
-
1Loss-
CLDN9-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC16A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC19A-
-
-
-
1Loss-
CLEC2L-
-
-
-
7Amp-
CLEC3A-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLGN-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLIP2-
-
-
-
6Amp-
CLK4-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLMP-
-
-
-
0Del-
CLN3-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLNS1A-
-
-
-
0Del-
CLOCK-
-
-
-
1Loss-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPTM1L-
-
-
-
1Loss-
CLRN2-
-
-
-
1Loss-
CLRN3-
-
-
-
1Loss-
CLTA-
-
-
-
1Loss-
CLTB-
-
-
-
1Loss-
CLUAP1-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMBL-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNGA1-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNIH1-
-
-
-
1Loss-
CNIH2-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT4-
-
-
-
7Amp-
CNOT6-
-
-
-
1Loss-
CNOT6L-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
7Amp-
CNPY4-
-
-
-
4Gain-
CNTF-
-
-
-
1Loss-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN3-
-
-
-
3Gain-
CNTN5-
-
-
-
1Loss-
CNTNAP2-
-
-
-
7Amp-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP4-
-
-
-
1Loss-
COA1-
-
-
-
1Loss-
COA4-
-
-
-
1Loss-
COBL-
-
-
-
1Loss-
COCH-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
5AmpCOG5--LEKR1
COG5--CACNA2D1
COG7-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL12A1p.P211S
Missense
SNP
0.404
2--
COL13A1-
-
-
-
1Loss-
COL17A1-
-
-
-
1Loss-
COL1A2-
-
-
-
6Amp-
COL23A1-
-
-
-
1Loss-
COL24A1-
-
-
-
1Loss-
COL25A1-
-
-
-
1Loss-
COL26A1-
-
-
-
5AmpLMTK2--COL26A1
COL28A1-
-
-
-
1Loss-
COL4A3BP-
-
-
-
1Loss-
COLCA2-
-
-
-
0Del-
COLEC12-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD8-
-
-
-
1Loss-
COMMD9-
-
-
-
1Loss-
COMTD1-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPG2-
-
-
-
7Amp-
COPS4-
-
-
-
1Loss-
COPS6-
-
-
-
7Amp-
COQ2-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
COQ7-
-
-
-
1Loss-
COQ9-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
CORO1A-
-
-
-
1Loss-
CORO1B-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX18-
-
-
-
1Loss-
COX19-
-
-
-
1Loss-
COX4I1-
-
-
-
1Loss-
COX6A2-
-
-
-
1Loss-
COX7B2-
-
-
-
1Loss-
COX7C-
-
-
-
1Loss-
COX8A-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CPA1-
-
-
-
7Amp-
CPA2-
-
-
-
7Amp-
CPA4-
-
-
-
7Amp-
CPA5-
-
-
-
7Amp-
CPE-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
5Amp-
CPLANE1-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPLX2-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE2-
-
-
-
1Loss-
CPNE6-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPPED1-
-
-
-
1Loss-
CPSF2-
-
-
-
1Loss-
CPSF4-
-
-
-
7Amp-
CPT1A-
-
-
-
3Gain-
CPVL-
-
-
-
1Loss-
CPXM2-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRAMP1-
-
-
-
1Loss-
CRCP-
-
-
-
4Gain-
CREB3-
-
-
-
1Loss-
CREB3L1-
-
-
-
1Loss-
CREB3L2-
-
-
-
7Amp-
CREB5-
-
-
-
1Loss-
CREBBP-
-
-
-
1Loss-
CREBRF-
-
-
-
1Loss-
CREBZF-
-
-
-
0Del-
CRHBP-
-
-
-
1Loss-
CRHR2-
-
-
-
1Loss-
CRISPLD2-
-
-
-
1Loss-
CRMP1-
-
-
-
1Loss-
CROT-
-
-
-
7Amp-
CRTAC1-
-
-
-
1Loss-
CRTAM-
-
-
-
0Del-
CRY2-
-
-
-
1Loss-
CRYAB-
-
-
-
0Del-
CRYGN-
-
-
-
7Amp-
CRYM-
-
-
-
1Loss-
CRYZ-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSGALNACT2-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD3-
-
-
-
3Gain-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CST6-
-
-
-
1Loss-
CSTF2T-
-
-
-
1Loss-
CSTF3-
-
-
-
1Loss-
CTAGE1-
-
-
-
1Loss-
CTAGE4-
-
-
-
7Amp-
CTAGE8-
-
-
-
7Amp-
CTBP1-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTF1-
-
-
-
1Loss-
CTH-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNND1-
-
-
-
1Loss-
CTNND2-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSC-
-
-
-
0Del-
CTSD-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTSO-
-
-
-
1Loss-
CTSW-
-
-
-
1Loss-
CTTN-
-
-
-
1Loss-
CTTNBP2-
-
-
-
5Amp-
CTU2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUBN-
-
-
-
3Gain-
CUEDC2-
-
-
-
1Loss-
CUL1-
-
-
-
7Amp-
CUL5-
-
-
-
0Del-
CUL9p.P465S
Missense
SNP
0.444
2--
CUTC-
-
-
-
1Loss-
CUX1-
-
-
-
5Amp-
CUZD1-
-
-
-
1Loss-
CWC15-
-
-
-
0Del-
CWC27-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CWF19L2-
-
-
-
0Del-
CWH43-
-
-
-
1Loss-
CX3CL1-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR5-
-
-
-
0Del-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYCS-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYLD-
-
-
-
1Loss-
CYP17A1-
-
-
-
1Loss-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2J2-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
1Loss-
CYP3A4p.E417K
Missense
SNP
0.158
7Amp-
CYP3A43-
-
-
-
7Amp-
CYP3A5-
-
-
-
7Amp-
CYP3A7-
-
-
-
7Amp-
CYP3A7-CYP3A51P-
-
-
-
7Amp-
CYP4V2-
-
-
-
1Loss-
CYP51A1-
-
-
-
6Amp-
CYR61-
-
-
-
1Loss-
CYREN-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH3-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
DAAM1-
-
-
-
1Loss-
DAB1-
-
-
-
1Loss-
DAB2-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAGLA-
-
-
-
3Gain-
DAGLB-
-
-
-
1Loss-
DAP-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DBF4-
-
-
-
1Loss-
DBN1-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DBNL-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF16-
-
-
-
1Loss-
DCAF4-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCAF5-
-
-
-
1Loss-
DCANP1-
-
-
-
1Loss-
DCCp.E998K
Missense
SNP
1.000
1Loss-
DCDC1-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCHS2-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1C-
-
-
-
3Gain-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
0Del-
DCT-
-
-
-
3Gain-
DCTD-
-
-
-
1Loss-
DCTN3-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCTN5-
-
-
-
1Loss-
DCTPP1-
-
-
-
1Loss-
DCUN1D3-
-
-
-
1Loss-
DCUN1D4-
-
-
-
1Loss-
DCUN1D5-
-
-
-
0Del-
DDAH1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDC-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDI1-
-
-
-
0Del-
DDIAS-
-
-
-
0Del-
DDIT4-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDX10-
-
-
-
0Del-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX25-
-
-
-
0Del-
DDX28-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX56-
-
-
-
1Loss-
DDX58-
-
-
-
1Loss-
DDX6-
-
-
-
0Del-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DECR2-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
DEFB103A-
-
-
-
3Gain-
DEFB103B-
-
-
-
3Gain-
DEFB104A-
-
-
-
3Gain-
DEFB104B-
-
-
-
3Gain-
DEFB105A-
-
-
-
3Gain-
DEFB105B-
-
-
-
3Gain-
DEFB106A-
-
-
-
3Gain-
DEFB106B-
-
-
-
3Gain-
DEFB107A-
-
-
-
3Gain-
DEFB107B-
-
-
-
3Gain-
DEFB4A-
-
-
-
3Gain-
DEFB4B-
-
-
-
3Gain-
DELE1-
-
-
-
1Loss-
DENND2A-
-
-
-
7Amp-
DENND2Cp.E800K
Missense
SNP
0.514
2--
DENND4C-
-
-
-
1Loss-
DENND5A-
-
-
-
1Loss-
DEPDC1-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DEUP1-
-
-
-
0Del-
DGAT2-
-
-
-
1Loss-
DGKB-
-
-
-
1Loss-
DGKI-
-
-
-
7Amp-
DGKQ-
-
-
-
1Loss-
DGKZ-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHCR24-
-
-
-
1Loss-
DHCR7-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHTKD1-
-
-
-
3Gain-
DHX15-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIP2C-
-
-
-
3Gain-
DIRAS1-
-
-
-
1Loss-
DIRAS3-
-
-
-
1Loss-
DIXDC1-
-
-
-
0Del-
DKK1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DLAT-
-
-
-
0Del-
DLD-
-
-
-
5Amp-
DLG2-
-
-
-
3Gain-
DLG5-
-
-
-
1Loss-
DLGAP1-
-
-
-
1Loss-
DLGAP5-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DLX5-
-
-
-
6Amp-
DLX6-
-
-
-
6Amp-
DMAC1-
-
-
-
1Loss-
DMBT1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTF1-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAAF5-
-
-
-
1Loss-
DNAH11-
-
-
-
1Loss-
DNAH3-
-
-
-
1Loss-
DNAH5-
-
-
-
1Loss-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB13-
-
-
-
1Loss-
DNAJB14-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB5-
-
-
-
1Loss-
DNAJB6-
-
-
-
7Amp-
DNAJB9-
-
-
-
5Amp-
DNAJC12-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC2-
-
-
-
5Amp-
DNAJC21-
-
-
-
1Loss-
DNAJC24-
-
-
-
1Loss-
DNAJC30-
-
-
-
3Gain-
DNAJC4-
-
-
-
1Loss-
DNAJC6-
-
-
-
1Loss-
DNAJC9-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNASE1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
1Loss-
DNASE2B-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM3p.D218N
Missense
SNP
0.475
2--
DNMBP-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DNTTIP2-
-
-
-
1Loss-
DOC2A-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK4-
-
-
-
5Amp-
DOCK7-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK3-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPAGT1-
-
-
-
0Del-
DPCD-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPP3-
-
-
-
1Loss-
DPP6-
-
-
-
7Amp-
DPY19L1-
-
-
-
1Loss-
DPYDp.P174L
Missense
SNP
0.498
2--
DPYSL3-
-
-
-
1Loss-
DPYSL4-
-
-
-
1Loss-
DR1-
-
-
-
1Loss-
DRAP1-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD2-
-
-
-
0Del-
DRD4-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DROSHA-
-
-
-
1Loss-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCAMp.E1824K
Missense
SNP
0.740
2--
DSCAML1-
-
-
-
0Del-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSPP-
-
-
-
1Loss-
DTD2-
-
-
-
1Loss-
DTHD1-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
6Amp-
DTX4-
-
-
-
1Loss-
DUPD1-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUS4L-
-
-
-
7Amp-
DUSP1-
-
-
-
1Loss-
DUSP13-
-
-
-
1Loss-
DUSP5-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1I1-
-
-
-
6Amp-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1-
-
-
-
0Del-
DYNLRB2-
-
-
-
1Loss-
E2F4-
-
-
-
1Loss-
E2F8-
-
-
-
1Loss-
E4F1-
-
-
-
1Loss-
EAPP-
-
-
-
1Loss-
EARS2-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBF3-
-
-
-
1Loss-
EBLN2-
-
-
-
3Gain-
ECD-
-
-
-
1Loss-
ECHDC3-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECI1-
-
-
-
1Loss-
ECSCR-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EDNRA-
-
-
-
1Loss-
EDRF1-
-
-
-
1Loss-
EED-
-
-
-
0Del-
EEF1AKMT2-
-
-
-
1Loss-
EEF2K-
-
-
-
1Loss-
EEPD1-
-
-
-
1Loss-
EFCAB11-
-
-
-
1Loss-
EFCAB7-
-
-
-
1Loss-
EFCAB9-
-
-
-
1Loss-
EFEMP2-
-
-
-
1Loss-
EFNA2-
-
-
-
1Loss-
EFNA5-
-
-
-
1Loss-
EFS-
-
-
-
1Loss-
EGF-
-
-
-
1Loss-
EGFLAM-
-
-
-
1Loss-
EGFR-
-
-
-
1Loss-
EGLN3-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EI24-
-
-
-
0Del-
EIF1AD-
-
-
-
1Loss-
EIF2AK1-
-
-
-
1Loss-
EIF2B2-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3B-
-
-
-
1Loss-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3F-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4E-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4E3-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
EIF5AL1-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELF2-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELFN1-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELMO1-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELMOD1-
-
-
-
0Del-
ELMOD2-
-
-
-
1Loss-
ELMSAN1-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOA2-
-
-
-
1Loss-
ELOB-
-
-
-
1Loss-
ELOVL3-
-
-
-
1Loss-
ELOVL6-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EME2-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EML3-
-
-
-
1Loss-
EML5-
-
-
-
1Loss-
EMP2-
-
-
-
1Loss-
EMSY-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
EN2-
-
-
-
7Amp-
ENAM-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
0Del-
ENHO-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENPEP-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENTPD1-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EOGT-
-
-
-
3Gain-
EPB41L3-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPDR1-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA1-
-
-
-
7Amp-
EPHA5-
-
-
-
1Loss-
EPHA7p.G833E
Missense
SNP
0.500
2--
EPHB4-
-
-
-
5Amp-
EPHB6-
-
-
-
7Amp-
EPHX4-
-
-
-
1Loss-
EPO-
-
-
-
5Amp-
EPS8L2-
-
-
-
1Loss-
EQTN-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERCC4-
-
-
-
1Loss-
ERCC6-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERH-
-
-
-
1Loss-
ERI2-
-
-
-
1Loss-
ERICH3p.E663K
Missense
SNP
1.000
1Loss-
ERLIN1-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERN2-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERV3-1-
-
-
-
4Gain-
ERVMER34-1-
-
-
-
1Loss-
ESAM-
-
-
-
0Del-
ESCO1-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ESR2-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESRRA-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESYT2-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFDH-
-
-
-
1Loss-
ETNPPL-
-
-
-
1Loss-
ETS1-
-
-
-
0Del-
ETV1-
-
-
-
1Loss-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EVX1-
-
-
-
1Loss-
EVX2p.A296V
Missense
SNP
0.528
2--
EXD2-
-
-
-
1Loss-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3-
-
-
-
1Loss-
EXOC3L1-
-
-
-
1Loss-
EXOC4-
-
-
-
7Amp-
EXOC5-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXPH5-
-
-
-
0Del-
EXT2-
-
-
-
1Loss-
EZH2-
-
-
-
7Amp-
F11-
-
-
-
1Loss-
F12-
-
-
-
1Loss-
F2-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FABP2-
-
-
-
1Loss-
FABP6-
-
-
-
1Loss-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
3Gain-
FADS2-
-
-
-
3Gain-
FADS3-
-
-
-
3GainFADS3--ALG8
FAF2-
-
-
-
1Loss-
FAHD1-
-
-
-
1Loss-
FAM107B-
-
-
-
3Gain-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM118B-
-
-
-
0Del-
FAM126A-
-
-
-
1Loss-
FAM131B-
-
-
-
7Amp-
FAM133B-
-
-
-
6Amp-
FAM13A-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM151A-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM160A1-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM166B-
-
-
-
1Loss-
FAM168A-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171A1-
-
-
-
3Gain-
FAM172A-
-
-
-
1Loss-
FAM173A-
-
-
-
1Loss-
FAM173B-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM180A-
-
-
-
4Gain-
FAM180B-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM181B-
-
-
-
0Del-
FAM184B-
-
-
-
1Loss-
FAM185A-
-
-
-
5Amp-
FAM192A-
-
-
-
1Loss-
FAM193A-
-
-
-
1Loss-
FAM193B-
-
-
-
1Loss-
FAM198B-
-
-
-
1Loss-
FAM19A4-
-
-
-
3Gain-
FAM200A-
-
-
-
7Amp-
FAM200B-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM208B-
-
-
-
3Gain-
FAM20C-
-
-
-
1Loss-
FAM210A-
-
-
-
1Loss-
FAM214B-
-
-
-
1Loss-
FAM218A-
-
-
-
1Loss-
FAM219A-
-
-
-
1Loss-
FAM220A-
-
-
-
1Loss-
FAM221A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM234A-
-
-
-
1Loss-
FAM240B-
-
-
-
1Loss-
FAM241A-
-
-
-
1Loss-
FAM241B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3C-
-
-
-
5Amp-
FAM45A-
-
-
-
1Loss-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM49Ap.X100_splice
Splice_Site
SNP
0.449
2--
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM57B-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM71F1-
-
-
-
5Amp-
FAM71F2-
-
-
-
5Amp-
FAM76B-
-
-
-
0Del-
FAM81B-
-
-
-
1Loss-
FAM83Bp.P870L
Missense
SNP
0.480
2--
FAM86C1-
-
-
-
1Loss-
FAM89B-
-
-
-
1Loss-
FAM92B-
-
-
-
1Loss-
FAM95C-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FANCM-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASTK-
-
-
-
7Amp-
FASTKD3-
-
-
-
1Loss-
FAT1-
-
-
-
1Loss-
FAT2-
-
-
-
1Loss-
FAT3-
-
-
-
0Del-
FAT4-
-
-
-
1Loss-
FAU-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBH1-
-
-
-
3Gain-
FBLL1-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBRS-
-
-
-
1Loss-
FBXL13-
-
-
-
5Amp-
FBXL15-
-
-
-
1Loss-
FBXL16-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL18-
-
-
-
1Loss-
FBXL19-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL7-
-
-
-
1Loss-
FBXL8-
-
-
-
1Loss-
FBXO10-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO24-
-
-
-
7Amp-
FBXO3-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO4-
-
-
-
1Loss-
FBXO8-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FCF1-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCHSD2-
-
-
-
1Loss-
FDCSP-
-
-
-
1Loss-
FDX1-
-
-
-
0Del-
FDXACB1-
-
-
-
0Del-
FECH-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FEN1-
-
-
-
3Gain-
FER-
-
-
-
1Loss-
FERD3L-
-
-
-
1Loss-
FERMT2-
-
-
-
1Loss-
FERMT3-
-
-
-
1Loss-
FEZ1-
-
-
-
0Del-
FEZF1-
-
-
-
5Amp-
FFAR4-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF19-
-
-
-
1Loss-
FGF2-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFR4-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FGGY-
-
-
-
1Loss-
FGL2-
-
-
-
6Amp-
FHDC1-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIBIN-
-
-
-
1Loss-
FIBP-
-
-
-
1Loss-
FIGNL1-
-
-
-
1Loss-
FIP1L1-
-
-
-
1Loss-
FIS1-
-
-
-
5Amp-
FITM1-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP14-
-
-
-
1Loss-
FKBP2-
-
-
-
1Loss-
FKBP3-
-
-
-
1Loss-
FKBP9-
-
-
-
1Loss-
FLG2p.D2185N
Missense
SNP
0.491
2--
FLI1-
-
-
-
0Del-
FLNCp.E775K
Missense
SNP
0.344
5Amp-
FLRT1-
-
-
-
1Loss-
FLRT2-
-
-
-
1Loss-
FLT4-
-
-
-
1Loss-
FLVCR2-
-
-
-
1Loss-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMC1-
-
-
-
7Amp-
FNBP1L-
-
-
-
1Loss-
FNBP4-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOPNL-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOSL1-
-
-
-
1Loss-
FOXA1-
-
-
-
1Loss-
FOXC2-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXD3-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXG1-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXI2-
-
-
-
1Loss-
FOXK1-
-
-
-
1Loss-
FOXL1-
-
-
-
1Loss-
FOXN3-
-
-
-
1Loss-
FOXP1-
-
-
-
3Gain-
FOXP2-
-
-
-
5Amp-
FOXR1-
-
-
-
0Del-
FOXRED1-
-
-
-
0Del-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FRA10AC1-
-
-
-
1Loss-
FRAS1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
3Gain-
FRMD4Ap.M355L
Missense
SNP
0.670
3Gain-
FRMD4B-
-
-
-
3Gain-
FRMD6-
-
-
-
1Loss-
FRMD8-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FSCB-
-
-
-
1Loss-
FSCN1-
-
-
-
1Loss-
FSCN3-
-
-
-
5Amp-
FSHB-
-
-
-
1Loss-
FST-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FSTL5-
-
-
-
1Loss-
FTH1-
-
-
-
5Amp-
FTMT-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FUS-
-
-
-
1Loss-
FUT11-
-
-
-
1Loss-
FUT4-
-
-
-
0Del-
FUT8-
-
-
-
1Loss-
FUT9p.R10C
Missense
SNP
0.485
2--
FXYD2-
-
-
-
0Del-
FXYD4-
-
-
-
1Loss-
FXYD6-
-
-
-
0Del-
FXYD6-FXYD2-
-
-
-
0Del-
FYB1-
-
-
-
1Loss-
FYB2-
-
-
-
1Loss-
FZD1-
-
-
-
6Amp-
FZD4-
-
-
-
0Del-
FZR1-
-
-
-
1Loss-
G2E3-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
GAB1-
-
-
-
1Loss-
GAB2-
-
-
-
2-RAB30-AS1--GAB2
GABARAPL2-
-
-
-
1Loss-
GABRA1-
-
-
-
1Loss-
GABRA2-
-
-
-
1Loss-
GABRA3p.P57S
Missense
SNP
0.537
NDND-
GABRA4-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GADD45A-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GAL-
-
-
-
3Gain-
GAL3ST3-
-
-
-
1Loss-
GAL3ST4-
-
-
-
4Gain-
GALC-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
7Amp-
GALNT15p.D231N
Missense
SNP
0.516
2--
GALNT16-
-
-
-
1Loss-
GALNT17-
-
-
-
3Gain-
GALNT18-
-
-
-
1Loss-
GALNT7-
-
-
-
1Loss-
GALNTL5-
-
-
-
7Amp-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALT-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAR1-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GARS-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA3-
-
-
-
3Gain-
GATA6-
-
-
-
1Loss-
GATAD1-
-
-
-
6Amp-
GATB-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GBA2-
-
-
-
1Loss-
GBA3p.S210F
Missense
SNP
1.000
1Loss-
GBE1-
-
-
-
3Gain-
GBF1-
-
-
-
1Loss-
GBP1-
-
-
-
1Loss-
GBP2-
-
-
-
1Loss-
GBP3-
-
-
-
1Loss-
GBP4-
-
-
-
1Loss-
GBP5-
-
-
-
1Loss-
GBP6-
-
-
-
1Loss-
GBP7-
-
-
-
1Loss-
GBX1-
-
-
-
7Amp-
GC-
-
-
-
1Loss-
GCC1-
-
-
-
5Amp-
GCH1-
-
-
-
1Loss-
GCK-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCSH-
-
-
-
1Loss-
GDE1-
-
-
-
1Loss-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF9-
-
-
-
1Loss-
GDI2-
-
-
-
3Gain-
GDNF-
-
-
-
1Loss-
GDPD3-
-
-
-
1Loss-
GDPD5-
-
-
-
1LossGDPD5--PAK1
GEMIN2-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GET4-
-
-
-
1Loss-
GFER-
-
-
-
1Loss-
GFI1-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFPT2-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GGA2-
-
-
-
1Loss-
GGCT-
-
-
-
1Loss-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
1Loss-
GHRHR-
-
-
-
1Loss-
GIF-
-
-
-
1Loss-
GIGYF1-
-
-
-
5Amp-
GIMAP1-
-
-
-
7Amp-
GIMAP1-GIMAP5-
-
-
-
7Amp-
GIMAP2-
-
-
-
7Amp-
GIMAP4-
-
-
-
7Amp-
GIMAP5-
-
-
-
7Amp-
GIMAP6-
-
-
-
7Amp-
GIMAP7-
-
-
-
7Amp-
GIMAP8p.D371N
Missense
SNP
0.824
7Amp-
GIMD1-
-
-
-
1Loss-
GIN1-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GIPC2-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GJC3-
-
-
-
7Amp-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GLB1L2-
-
-
-
0Del-
GLB1L3-
-
-
-
0Del-
GLCCI1-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI3-
-
-
-
1Loss-
GLIPR2-
-
-
-
1Loss-
GLIS2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLMN-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GLYR1-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL2-
-
-
-
1Loss-
GMFB-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA12-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAI1-
-
-
-
5Amp-
GNAL-
-
-
-
1Loss-
GNAO1-
-
-
-
1Loss-
GNAT3-
-
-
-
5Amp-
GNB2-
-
-
-
5Amp-
GNE-
-
-
-
1Loss-
GNG11-
-
-
-
6Amp-
GNG12-
-
-
-
1Loss-
GNG13-
-
-
-
1Loss-
GNG2-
-
-
-
1Loss-
GNG3-
-
-
-
1Loss-
GNG5-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNGT1-
-
-
-
6Amp-
GNPDA1-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNPNAT1-
-
-
-
1Loss-
GNPTG-
-
-
-
1Loss-
GNRHR-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLPH3-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GOT1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP2-
-
-
-
1Loss-
GPAM-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPATCH2L-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPC2-
-
-
-
4Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPER1-
-
-
-
1Loss-
GPHA2-
-
-
-
1Loss-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPM6A-
-
-
-
1Loss-
GPNMB-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137-
-
-
-
1Loss-
GPR137C-
-
-
-
1Loss-
GPR139-
-
-
-
1Loss-
GPR141-
-
-
-
1Loss-
GPR146-
-
-
-
1Loss-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR152-
-
-
-
1Loss-
GPR22-
-
-
-
7Amp-
GPR26-
-
-
-
1Loss-
GPR27-
-
-
-
3Gain-
GPR33-
-
-
-
1Loss-
GPR37-
-
-
-
5Amp-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR83-
-
-
-
0Del-
GPR85-
-
-
-
5Amp-
GPRC5B-
-
-
-
1Loss-
GPRIN1-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1B-
-
-
-
0Del-
GRAMD2B-
-
-
-
1Loss-
GRB10-
-
-
-
1Loss-
GREB1L-
-
-
-
1Loss-
GRHPR-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRIA2-
-
-
-
1Loss-
GRIA3p.V636L
Missense
SNP
0.467
NDND-
GRIA4-
-
-
-
0Del-
GRID1-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
1Loss-
GRIFIN-
-
-
-
1Loss-
GRIK4p.G786E
Missense
SNP
1.000
0Del-
GRIN2A-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRK2-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRM3-
-
-
-
5Amp-
GRM5-
-
-
-
0Del-
GRM6-
-
-
-
1Loss-
GRM8-
-
-
-
5Amp-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
1Loss-
GSC-
-
-
-
1Loss-
GSDME-
-
-
-
1Loss-
GSE1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSPT1-
-
-
-
1Loss-
GSTCD-
-
-
-
1Loss-
GSTK1-
-
-
-
7Amp-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTP1-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GSX2-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2B-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2I-
-
-
-
1Loss-
GTF2IRD1-
-
-
-
5Amp-
GTF2IRD2-
-
-
-
1Loss-
GTF2IRD2B-
-
-
-
1Loss-
GTF3C1-
-
-
-
1Loss-
GTPBP10-
-
-
-
1Loss-
GTPBP4-
-
-
-
3Gain-
GUCY1A1-
-
-
-
1Loss-
GUCY1A2-
-
-
-
0Del-
GUCY1B1-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GUSB-
-
-
-
4Gain-
GVQW3-
-
-
-
1Loss-
GXYLT2-
-
-
-
3Gain-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GZMA-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H2AFV-
-
-
-
1Loss-
H2AFX-
-
-
-
0Del-
H2AFY-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HACD1-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HAGH-
-
-
-
1Loss-
HAGHL-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HARBI1-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBA1-
-
-
-
1Loss-
HBA2-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBM-
-
-
-
1Loss-
HBP1-
-
-
-
5Amp-
HBQ1-
-
-
-
1Loss-
HBZ-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HCN1-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC9-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HEATR3-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECW1-
-
-
-
1Loss-
HECW2p.P17L
Missense
SNP
0.326
2--
HELLS-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HEPACAM-
-
-
-
0Del-
HEPACAM2-
-
-
-
6Amp-
HEPHL1-
-
-
-
0Del-
HEPN1-
-
-
-
0Del-
HERC3-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HERPUD2-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HGF-
-
-
-
5AmpPILRB--HGF
HGFAC-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHLA3-
-
-
-
1Loss-
HIBADH-
-
-
-
1Loss-
HIF1A-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIGD2A-
-
-
-
1Loss-
HILPDA-
-
-
-
5Amp-
HINFP-
-
-
-
0Del-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HIP1-
-
-
-
4Gain-
HIPK2-
-
-
-
7Amp-
HIPK3-
-
-
-
1Loss-
HIRIP3-
-
-
-
1Loss-
HK1-
-
-
-
1Loss-
HK3-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HMBS-
-
-
-
0Del-
HMG20B-
-
-
-
1Loss-
HMGB2-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
1Loss-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNRNPA0-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
1Loss-
HNRNPAB-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK1-
-
-
-
1Loss-
HOPX-
-
-
-
1Loss-
HOXA1-
-
-
-
1Loss-
HOXA10-
-
-
-
1Loss-
HOXA11-
-
-
-
1Loss-
HOXA13-
-
-
-
1Loss-
HOXA2-
-
-
-
1Loss-
HOXA3-
-
-
-
1Loss-
HOXA4-
-
-
-
1Loss-
HOXA5-
-
-
-
1Loss-
HOXA6-
-
-
-
1Loss-
HOXA7-
-
-
-
1Loss-
HOXA9-
-
-
-
1Loss-
HP-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRCT1-
-
-
-
1Loss-
HRH2-
-
-
-
1Loss-
HRH4-
-
-
-
1Loss-
HS2ST1-
-
-
-
1Loss-
HS3ST1-
-
-
-
1Loss-
HS3ST2-
-
-
-
1Loss-
HS3ST4-
-
-
-
1Loss-
HS3ST6-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B12-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD3B7-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA14-
-
-
-
3Gain-
HSPA2-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA8-
-
-
-
0Del-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
6Amp-
HSPB2-
-
-
-
0Del-
HSPB2-C11orf52-
-
-
-
0Del-
HSPB3-
-
-
-
1Loss-
HTATIP2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR3A-
-
-
-
0Del-
HTR3B-
-
-
-
0Del-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
7Amp-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUS1-
-
-
-
1Loss-
HYAL4-
-
-
-
5AmpYWHAG--HYAL4
HYDIN-
-
-
-
1Loss-
HYLS1-
-
-
-
0Del-
HYOU1-
-
-
-
0Del-
IBSP-
-
-
-
1Loss-
ICA1-
-
-
-
1Loss-
ICE1-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IDUA-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
5AmpZNF92--IFRD1
IFT140-
-
-
-
1Loss-
IFT22-
-
-
-
5Amp-
IFT43-
-
-
-
1Loss-
IFT46-
-
-
-
0Del-
IFT74-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGF2BP3-
-
-
-
1Loss-
IGF2Rp.P1419L
Missense
SNP
0.579
2--
IGFALS-
-
-
-
1Loss-
IGFBP1-
-
-
-
1Loss-
IGFBP3-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGHMBP2-
-
-
-
3Gain-
IGHV3OR16-9-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGSF22-
-
-
-
1Loss-
IGSF6-
-
-
-
1Loss-
IGSF9B-
-
-
-
0Del-
IK-
-
-
-
1Loss-
IKZF1-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL10RA-
-
-
-
0Del-
IL11RA-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL12RB2-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL15-
-
-
-
1Loss-
IL15RA-
-
-
-
3Gain-
IL17B-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL18-
-
-
-
0Del-
IL18BP-
-
-
-
3Gain-
IL2-
-
-
-
1Loss-
IL21-
-
-
-
1Loss-
IL21R-
-
-
-
1Loss-
IL23R-
-
-
-
1Loss-
IL25-
-
-
-
1Loss-
IL27-
-
-
-
1Loss-
IL2RA-
-
-
-
3Gain-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL32-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL6-
-
-
-
1Loss-
IL6ST-
-
-
-
1Loss-
IL7R-
-
-
-
1Loss-
IL9-
-
-
-
1Loss-
ILK-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMMP2L-
-
-
-
5Amp-
IMPA2-
-
-
-
1Loss-
IMPACT-
-
-
-
1Loss-
IMPDH1-
-
-
-
5Amp-
INA-
-
-
-
1Loss-
INCENP-
-
-
-
5Amp-
ING2-
-
-
-
1Loss-
ING3-
-
-
-
5Amp-
INHBA-
-
-
-
1Loss-
INMT-
-
-
-
1Loss-
INMT-MINDY4-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INO80E-
-
-
-
1Loss-
INPP4B-
-
-
-
1Loss-
INPP5A-
-
-
-
1Loss-
INPP5F-
-
-
-
1Loss-
INPPL1-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSIG1-
-
-
-
7Amp-
INSL4-
-
-
-
1Loss-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
1Loss-
INTS12-
-
-
-
1Loss-
INTS4-
-
-
-
0Del-
INTS5-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IQCE-
-
-
-
1Loss-
IQCK-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQUB-
-
-
-
5Amp-
IRF1-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF2BPL-
-
-
-
1Loss-
IRF5-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRX1-
-
-
-
1Loss-
IRX2-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX4-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISCA2-
-
-
-
1Loss-
ISL1-
-
-
-
1Loss-
ISM2-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISPD-
-
-
-
1Loss-
IST1-
-
-
-
1Loss-
ITFG1-
-
-
-
1Loss-
ITGA1-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA8-
-
-
-
3Gain-
ITGAD-
-
-
-
1Loss-
ITGAL-
-
-
-
1Loss-
ITGAMp.Q314*
Nonsense
SNP
1.000
1Loss-
ITGAX-
-
-
-
1Loss-
ITGB3BP-
-
-
-
1Loss-
ITGB8-
-
-
-
1Loss-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITK-
-
-
-
1Loss-
ITPK1-
-
-
-
1Loss-
ITPRID1-
-
-
-
1Loss-
ITPRIP-
-
-
-
1Loss-
ITPRIPL2-
-
-
-
1Loss-
IZUMO1R-
-
-
-
0Del-
IZUMO3-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAK1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JAM3-
-
-
-
0Del-
JAML-
-
-
-
0Del-
JAZF1-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JDP2-
-
-
-
1Loss-
JHY-
-
-
-
0Del-
JKAMP-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD8-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
JPT2-
-
-
-
1Loss-
JRKL-
-
-
-
0Del-
JSRP1-
-
-
-
1Loss-
JUN-
-
-
-
1Loss-
KALRNp.P63S
Missense
SNP
0.482
2--
KANK1-
-
-
-
1Loss-
KANK4-
-
-
-
1Loss-
KARS-
-
-
-
1Loss-
KAT5-
-
-
-
1Loss-
KAT6B-
-
-
-
1Loss-
KAT8-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KBTBD2-
-
-
-
1Loss-
KBTBD3-
-
-
-
0Del-
KBTBD4-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNC1-
-
-
-
1Loss-
KCND2-
-
-
-
5Amp-
KCND3p.S162L
Missense
SNP
0.496
2--
KCNE3-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH2-
-
-
-
7Amp-
KCNH5-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ1-
-
-
-
0Del-
KCNJ11-
-
-
-
1Loss-
KCNJ5-
-
-
-
0Del-
KCNK10-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK18-
-
-
-
1Loss-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNMA1-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
5Amp-
KCTD1-
-
-
-
1Loss-
KCTD13-
-
-
-
1Loss-
KCTD14-
-
-
-
0Del-
KCTD16-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KDELC2-
-
-
-
0Del-
KDELR2-
-
-
-
1Loss-
KDM2A-
-
-
-
1Loss-
KDM3B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM4D-
-
-
-
0Del-
KDM4E-
-
-
-
0Del-
KDM4F-
-
-
-
0Del-
KDM7A-
-
-
-
7Amp-
KDM8-
-
-
-
1Loss-
KDR-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KEL-
-
-
-
7Amp-
KHNYN-
-
-
-
1Loss-
KIAA0232-
-
-
-
1Loss-
KIAA0391-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1147-
-
-
-
7Amp-
KIAA1191-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1324L-
-
-
-
5Amp-
KIAA1328-
-
-
-
1Loss-
KIAA1549-
-
-
-
7Amp-
KIAA1549L-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF1BP-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF22-
-
-
-
1Loss-
KIF24-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF4Bp.A368T
Missense
SNP
1.000
1Loss-
KIF6p.V780A
Missense
SNP
0.503
2--
KIFC3-
-
-
-
1Loss-
KIN-
-
-
-
3Gain-
KIRREL3-
-
-
-
0Del-
KISS1R-
-
-
-
1Loss-
KIT-
-
-
-
1Loss-
KLB-
-
-
-
1Loss-
KLC2-
-
-
-
1Loss-
KLF14-
-
-
-
7Amp-
KLF16-
-
-
-
1Loss-
KLF3-
-
-
-
1Loss-
KLF6-
-
-
-
3Gain-
KLHDC1-
-
-
-
1Loss-
KLHDC10-
-
-
-
7Amp-
KLHDC2-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHL14-
-
-
-
1Loss-
KLHL2-
-
-
-
1Loss-
KLHL28-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL35-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL42p.R407C
Missense
SNP
0.484
2--
KLHL5-
-
-
-
1Loss-
KLHL7-
-
-
-
1Loss-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLLN-
-
-
-
1Loss-
KLRG2-
-
-
-
7Amp-
KMT2A-
-
-
-
0Del-
KMT2C-
-
-
-
7Amp-
KMT2Dp.P2108S
Missense
SNP
0.465
2--
KMT2E-
-
-
-
7Amp-
KMT5B-
-
-
-
1Loss-
KNDC1-
-
-
-
1Loss-
KNOP1-
-
-
-
1Loss-
KPNA7-
-
-
-
3Gain-
KRBA1-
-
-
-
7Amp-
KREMEN2-
-
-
-
1Loss-
KRIT1-
-
-
-
6Amp-
KRTAP4-11p.M93V
Missense
SNP
0.132
2--
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KSR2p.G575E
Missense
SNP
0.497
2--
KTN1-
-
-
-
1Loss-
KYAT3-
-
-
-
1Loss-
L1TD1-
-
-
-
1Loss-
L2HGDH-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL4-
-
-
-
1Loss-
LAMA1-
-
-
-
1Loss-
LAMA3-
-
-
-
1Loss-
LAMB1-
-
-
-
5Amp-
LAMB4-
-
-
-
1Loss-
LAMTOR1-
-
-
-
1Loss-
LAMTOR3-
-
-
-
1Loss-
LAMTOR4-
-
-
-
4Gain-
LANCL2-
-
-
-
1Loss-
LAP3-
-
-
-
1Loss-
LARGE2-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP4B-
-
-
-
3Gain-
LARP7-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LAT-
-
-
-
1Loss-
LAT2-
-
-
-
6Amp-
LAYN-
-
-
-
0Del-
LBHD1-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCMT1-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCORL-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LDLRAD4-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEF1-
-
-
-
1Loss-
LEKR1-
-
-
-
2-COG5--LEKR1
LEP-
-
-
-
5Amp-
LEPR-
-
-
-
1Loss-
LEPROT-
-
-
-
1Loss-
LETM1-
-
-
-
1Loss-
LEXM-
-
-
-
1Loss-
LFNG-
-
-
-
1Loss-
LGALS12-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LGSNp.D372N
Missense
SNP
0.539
2--
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
4Gain-
LHFPL3-AS1-
-
-
-
NDNDLHFPL3-AS1--PCLO
LHPP-
-
-
-
1Loss-
LHX8-
-
-
-
1Loss-
LIAS-
-
-
-
1Loss-
LIFR-
-
-
-
1Loss-
LILRB1p.A271T
Missense
SNP
0.526
2--
LIMCH1-
-
-
-
1Loss-
LIMK1-
-
-
-
3GainLIMK1--SEM1
LIN52-
-
-
-
1Loss-
LIN54-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LINGO2-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT2-
-
-
-
1Loss-
LITAF-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LLCFC1-
-
-
-
7Amp-
LMAN1-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LMBR1-
-
-
-
7Amp-
LMBRD2-
-
-
-
1Loss-
LMF1-
-
-
-
1Loss-
LMLN2-
-
-
-
1Loss-
LMNB1-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMO4-
-
-
-
1Loss-
LMOD2-
-
-
-
5Amp-
LMOD3-
-
-
-
3Gain-
LMTK2-
-
-
-
6AmpLMTK2--COL26A1
LNPEP-
-
-
-
1Loss-
LNX1-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPAR3-
-
-
-
1Loss-
LPCAT1-
-
-
-
1Loss-
LPCAT2-
-
-
-
1Loss-
LPIN2-
-
-
-
1Loss-
LPXN-
-
-
-
1Loss-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH4-
-
-
-
7Amp-
LRFN4-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRGUK-
-
-
-
7Amp-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRIT3-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP2BP-
-
-
-
1Loss-
LRP4-
-
-
-
1Loss-
LRP5-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRR1-
-
-
-
1Loss-
LRRC14B-
-
-
-
1Loss-
LRRC17-
-
-
-
5Amp-
LRRC18-
-
-
-
1Loss-
LRRC19-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC30-
-
-
-
1Loss-
LRRC32-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC4-
-
-
-
5Amp-
LRRC40-
-
-
-
1Loss-
LRRC4C-
-
-
-
1Loss-
LRRC53-
-
-
-
1Loss-
LRRC55-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC61-
-
-
-
7Amp-
LRRC66-
-
-
-
1Loss-
LRRC7-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC72-
-
-
-
1Loss-
LRRC74A-
-
-
-
1Loss-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LRRD1-
-
-
-
6Amp-
LRRIQ3-
-
-
-
1Loss-
LRRN3-
-
-
-
5Amp-
LRRN4CL-
-
-
-
1Loss-
LRRTM2-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRTOMT-
-
-
-
1Loss-
LRWD1-
-
-
-
5Amp-
LSM11-
-
-
-
1Loss-
LSM5-
-
-
-
1Loss-
LSM6-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSM8-
-
-
-
5Amp-
LSMEM1-
-
-
-
5Amp-
LSP1-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBP3-
-
-
-
1Loss-
LTC4S-
-
-
-
1Loss-
LTO1-
-
-
-
3Gain-
LUC7L-
-
-
-
1Loss-
LUC7L2-
-
-
-
7Amp-
LURAP1L-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LUZP6-
-
-
-
4Gain-
LVRN-
-
-
-
1Loss-
LYAR-
-
-
-
1Loss-
LYRM1-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYSTp.R3203C
Missense
SNP
0.448
2--
LYVE1-
-
-
-
1Loss-
LZTS2-
-
-
-
1Loss-
MAB21L2-
-
-
-
1Loss-
MACC1-
-
-
-
1Loss-
MACROD1-
-
-
-
1Loss-
MAD1L1-
-
-
-
1Loss-
MAD2L1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAF-
-
-
-
1Loss-
MAFK-
-
-
-
1Loss-
MAGI2-
-
-
-
1LossCAPZA2--MAGI2
MAJIN-
-
-
-
1Loss-
MALSU1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAML1-
-
-
-
1Loss-
MAML2-
-
-
-
0Del-
MAML3-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2B2-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MAP10p.E397K
Missense
SNP
0.528
2--
MAP1B-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K11-
-
-
-
1Loss-
MAP3K9-
-
-
-
1Loss-
MAP4K2-
-
-
-
1Loss-
MAP4K5-
-
-
-
1Loss-
MAP6-
-
-
-
1Loss-
MAP9-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK1IP1L-
-
-
-
1Loss-
MAPK3-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPK8IP3-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MARCH1-
-
-
-
1Loss-
MARCH11-
-
-
-
1Loss-
MARCH3-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
1Loss-
MARCH8-
-
-
-
1Loss-
MARCOp.G349E
Missense
SNP
0.502
2--
MARF1-
-
-
-
1Loss-
MARK2-
-
-
-
1Loss-
MARVELD1-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MAT1A-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MAX-
-
-
-
1Loss-
MAZ-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBL2-
-
-
-
1Loss-
MBLAC1-
-
-
-
4Gain-
MBLAC2-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC2R-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
1Loss-
MCAM-
-
-
-
0Del-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCM10-
-
-
-
3Gain-
MCM7-
-
-
-
7Amp-
MCMBP-
-
-
-
1Loss-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCRIP2-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MCU-
-
-
-
1Loss-
MCUB-
-
-
-
1Loss-
MDFIC-
-
-
-
5Amp-
MDGA2-
-
-
-
1Loss-
MDH2-
-
-
-
6Amp-
MDK-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MED10-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED17-
-
-
-
0Del-
MED19-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEFV-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEIG1-
-
-
-
3Gain-
MEIOB-
-
-
-
1Loss-
MELK-
-
-
-
1Loss-
MEN1-
-
-
-
1Loss-
MEOX2-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
MEPCE-
-
-
-
7Amp-
MEPE-
-
-
-
1Loss-
MEST-
-
-
-
7Amp-
MET-
-
-
-
5Amp-
METAP1-
-
-
-
1Loss-
METRN-
-
-
-
1Loss-
METTL14-
-
-
-
1Loss-
METTL15-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL22-
-
-
-
1Loss-
METTL26-
-
-
-
1Loss-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
5Amp-
METTL3-
-
-
-
1Loss-
METTL4-
-
-
-
1Loss-
METTL9-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFRP-
-
-
-
0Del-
MFSD10-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD8-
-
-
-
1Loss-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
4Gain-
MGARP-
-
-
-
1Loss-
MGAT1-
-
-
-
1Loss-
MGAT2-
-
-
-
1Loss-
MGAT4B-
-
-
-
1Loss-
MGAT4D-
-
-
-
1Loss-
MGMT-
-
-
-
1Loss-
MGRN1-
-
-
-
1Loss-
MGST2-
-
-
-
1Loss-
MIA2-
-
-
-
1Loss-
MIB1-
-
-
-
1Loss-
MICAL2-
-
-
-
1Loss-
MICALL2-
-
-
-
1Loss-
MICU1-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER1-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIGA1-
-
-
-
1Loss-
MINDY3-
-
-
-
3Gain-
MINDY4-
-
-
-
1Loss-
MINPP1-
-
-
-
1Loss-
MIOS-
-
-
-
1Loss-
MIPOL1-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MITF-
-
-
-
3Gain-
MKI67-
-
-
-
1Loss-
MKLN1-
-
-
-
7AmpMKLN1--SMKR1
MKNK2-
-
-
-
1Loss-
MKRN1-
-
-
-
7Amp-
MLANA-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MLST8-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMD2-
-
-
-
1Loss-
MMP1-
-
-
-
0Del-
MMP10-
-
-
-
0Del-
MMP12-
-
-
-
0Del-
MMP13-
-
-
-
0Del-
MMP14-
-
-
-
1Loss-
MMP15-
-
-
-
1Loss-
MMP2-
-
-
-
1Loss-
MMP20-
-
-
-
0Del-
MMP21-
-
-
-
1Loss-
MMP25-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMP27-
-
-
-
0Del-
MMP3-
-
-
-
0Del-
MMP7-
-
-
-
0Del-
MMP8-
-
-
-
0Del-
MMRN1-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MND1-
-
-
-
1Loss-
MNX1-
-
-
-
7Amp-
MOAP1-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOGAT2-
-
-
-
1Loss-
MOGAT3-
-
-
-
5Amp-
MON1B-
-
-
-
1Loss-
MON2p.R1080*
Nonsense
SNP
0.500
2--
MORN4-
-
-
-
1Loss-
MOSMO-
-
-
-
1Loss-
MOSPD3-
-
-
-
7Amp-
MPDZ-
-
-
-
1Loss-
MPEG1-
-
-
-
1Loss-
MPG-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPLKIP-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPP6-
-
-
-
1Loss-
MPPE1-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPV17L-
-
-
-
1Loss-
MPZL2-
-
-
-
0Del-
MPZL3-
-
-
-
0Del-
MRE11-
-
-
-
0Del-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGPRD-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRF-
-
-
-
3Gain-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM2-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2A-
-
-
-
1Loss-
MROH2B-
-
-
-
1Loss-
MROH7-
-
-
-
1Loss-
MROH7-TTC4-
-
-
-
1Loss-
MRPL1-
-
-
-
1Loss-
MRPL11-
-
-
-
1Loss-
MRPL16-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL21-
-
-
-
3Gain-
MRPL22-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL28-
-
-
-
1Loss-
MRPL32-
-
-
-
1Loss-
MRPL36-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL48-
-
-
-
1Loss-
MRPL49-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPS16-
-
-
-
1Loss-
MRPS17-
-
-
-
1Loss-
MRPS18C-
-
-
-
1Loss-
MRPS24-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS30-
-
-
-
1Loss-
MRPS33-
-
-
-
4Gain-
MRPS34-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRTFB-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MS4A1-
-
-
-
3Gain-
MS4A10-
-
-
-
3Gain-
MS4A12-
-
-
-
3Gain-
MS4A13-
-
-
-
3Gain-
MS4A14-
-
-
-
3Gain-
MS4A15-
-
-
-
3Gain-
MS4A18-
-
-
-
3Gain-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4A-
-
-
-
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
3Gain-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
3Gain-
MS4A7-
-
-
-
3Gain-
MS4A8-
-
-
-
3Gain-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
0Del-
MSANTD4-
-
-
-
0Del-
MSH3-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSLN-
-
-
-
1Loss-
MSLNL-
-
-
-
1Loss-
MSMB-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSMP-
-
-
-
1Loss-
MSRB1-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MSX1-
-
-
-
1Loss-
MSX2-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTA2-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTCH2-
-
-
-
1Loss-
MTCL1-
-
-
-
1Loss-
MTERF1-
-
-
-
6Amp-
MTF2-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTHFD1-
-
-
-
1Loss-
MTHFD2L-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTMR12-
-
-
-
1Loss-
MTMR2-
-
-
-
0Del-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
0Del-
MTPN-
-
-
-
4Gain-
MTREX-
-
-
-
1Loss-
MTRR-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTURN-
-
-
-
1Loss-
MTX3-
-
-
-
1Loss-
MUC12-
-
-
-
5Amp-
MUC15-
-
-
-
1Loss-
MUC17-
-
-
-
5Amp-
MUC2-
-
-
-
1Loss-
MUC3A-
-
-
-
5Amp-
MUC4p.T1627K
Missense
SNP
0.129
2--
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUC7-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUS81-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MVP-
-
-
-
1Loss-
MXD3-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MYBPC3-
-
-
-
1Loss-
MYEOV-
-
-
-
3Gain-
MYH1p.G1247R
Missense
SNP
0.452
2--
MYH11-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYL10-
-
-
-
5Amp-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL5-
-
-
-
1Loss-
MYL7-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYLPF-
-
-
-
1Loss-
MYO10-
-
-
-
1Loss-
MYO1G-
-
-
-
1Loss-
MYO3Ap.G30E
Missense
SNP
0.393
2--
MYO5B-
-
-
-
1Loss-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM1-
-
-
-
1Loss-
MYORG-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYRF-
-
-
-
3Gain-
MYSM1-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA30-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAA60-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALAD2-
-
-
-
0Del-
NAALADL1-
-
-
-
1Loss-
NACAD-
-
-
-
1Loss-
NADK2-
-
-
-
1Loss-
NADSYN1-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAF1-
-
-
-
1Loss-
NAGPA-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NAMPT-
-
-
-
5Amp-
NANOS1-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPEPLD-
-
-
-
5Amp-
NAPG-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NARS2-
-
-
-
0Del-
NAT10-
-
-
-
1Loss-
NAT16-
-
-
-
5Amp-
NAT8L-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NBPF20-
-
-
-
4Gain-
NCAM1-
-
-
-
0Del-
NCAPD3-
-
-
-
0Del-
NCAPG-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCF1-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCOA4-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NDC80-
-
-
-
1Loss-
NDE1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDNF-
-
-
-
1Loss-
NDRG2-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA4-
-
-
-
1Loss-
NDUFA5-
-
-
-
5Amp-
NDUFAB1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFB1-
-
-
-
1Loss-
NDUFB10-
-
-
-
1Loss-
NDUFB2-
-
-
-
7Amp-
NDUFB6-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFC1-
-
-
-
1Loss-
NDUFC2-
-
-
-
0Del-
NDUFC2-KCTD14-
-
-
-
0Del-
NDUFS3-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NDUFS6-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NDUFV2-
-
-
-
1Loss-
NECAB2-
-
-
-
1Loss-
NECTIN1-
-
-
-
0Del-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEGR1-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK9-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NELL1-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NEUROD6-
-
-
-
1Loss-
NEUROG1-
-
-
-
1Loss-
NEUROG2-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NEXN-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2IP-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFE2L3-
-
-
-
1Loss-
NFE4-
-
-
-
5Amp-
NFIA-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFKB1-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIA-
-
-
-
1Loss-
NFRKB-
-
-
-
0Del-
NFX1-
-
-
-
1Loss-
NFXL1-
-
-
-
1Loss-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NHLRC2-
-
-
-
1Loss-
NHLRC4-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NID2-
-
-
-
1Loss-
NIM1K-
-
-
-
1Loss-
NIN-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPAL1-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPBL-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
1Loss-
NKAPD1-
-
-
-
0Del-
NKD1-
-
-
-
1Loss-
NKD2-
-
-
-
1Loss-
NKX1-1-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-1-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NKX2-8-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRC3-
-
-
-
1Loss-
NLRC5-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NLRX1-
-
-
-
0Del-
NME3-
-
-
-
1Loss-
NME4-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NME8-
-
-
-
1Loss-
NMRAL1-
-
-
-
1Loss-
NMT2-
-
-
-
3Gain-
NMU-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNMT-
-
-
-
0Del-
NNT-
-
-
-
1Loss-
NOA1-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
7Amp-
NOC3L-
-
-
-
1Loss-
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
1Loss-
NOD2-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL6-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NOM1-
-
-
-
7Amp-
NOMO1-
-
-
-
1Loss-
NOMO2-
-
-
-
1Loss-
NOMO3-
-
-
-
1Loss-
NOP14-
-
-
-
1Loss-
NOP16-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOS3-
-
-
-
7Amp-
NOVA1-
-
-
-
1Loss-
NOX4-
-
-
-
0Del-
NOXO1-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAS3-
-
-
-
1Loss-
NPAS4-
-
-
-
1Loss-
NPAT-
-
-
-
0Del-
NPC1-
-
-
-
1Loss-
NPC1L1-
-
-
-
1Loss-
NPC2-
-
-
-
1Loss-
NPFFR1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPIPB2-
-
-
-
1Loss-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPIPB7-
-
-
-
1Loss-
NPIPB8-
-
-
-
1Loss-
NPM1-
-
-
-
1Loss-
NPM3-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NPR3-
-
-
-
1Loss-
NPRL3-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPSR1-
-
-
-
1Loss-
NPTX2-
-
-
-
6Amp-
NPVF-
-
-
-
1Loss-
NPW-
-
-
-
1Loss-
NPY-
-
-
-
1Loss-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR3C2-
-
-
-
1Loss-
NRAP-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRCAM-
-
-
-
1Loss-
NRDE2-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
7Amp-
NRG2-
-
-
-
1Loss-
NRG3-
-
-
-
1Loss-
NRGN-
-
-
-
0Del-
NRIP3-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NRXN2-
-
-
-
1Loss-
NRXN3-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NSMCE1-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSUN2-
-
-
-
1Loss-
NSUN5-
-
-
-
3Gain-
NSUN5P1-
-
-
-
NDNDNSUN5P1--CDK14
NSUN7-
-
-
-
1Loss-
NT5C2-
-
-
-
1Loss-
NT5C3A-
-
-
-
1Loss-
NTAN1-
-
-
-
1Loss-
NTHL1-
-
-
-
1Loss-
NTM-
-
-
-
0Del-
NTN3-
-
-
-
1Loss-
NUB1-
-
-
-
7Amp-
NUBP1-
-
-
-
1Loss-
NUBP2-
-
-
-
1Loss-
NUBPL-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
1Loss-
NUDT1-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT16L1-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT22-
-
-
-
1Loss-
NUDT5-
-
-
-
3Gain-
NUDT6-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUDT8-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUMA1-
-
-
-
3Gain-
NUMB-
-
-
-
1Loss-
NUP155-
-
-
-
1Loss-
NUP160-
-
-
-
1Loss-
NUP205-
-
-
-
7Amp-
NUP54-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
1Loss-
NUPR1-
-
-
-
1Loss-
NUPR2-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NWD2-
-
-
-
1Loss-
NXF1-
-
-
-
1Loss-
NXPE1-
-
-
-
0Del-
NXPE2-
-
-
-
0Del-
NXPE4-
-
-
-
0Del-
NXPH1-
-
-
-
1Loss-
NYAP1-
-
-
-
5Amp-
NYNRIN-
-
-
-
1Loss-
OAF-
-
-
-
0Del-
OAT-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
OCM-
-
-
-
1Loss-
OCM2-
-
-
-
6Amp-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF2L-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDH-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OGFOD1-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLAH-
-
-
-
3Gain-
OLFML1-
-
-
-
1Loss-
OMA1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
0Del-
OPN1SW-
-
-
-
5Amp-
OPN4-
-
-
-
1Loss-
OPRPN-
-
-
-
1Loss-
OPTN-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
0Del-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10G4-
-
-
-
0Del-
OR10G7-
-
-
-
0Del-
OR10G8-
-
-
-
0Del-
OR10G9-
-
-
-
0Del-
OR10Q1-
-
-
-
1Loss-
OR10S1-
-
-
-
0Del-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR13A1-
-
-
-
1Loss-
OR13J1-
-
-
-
1Loss-
OR1F1-
-
-
-
1Loss-
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2A1-
-
-
-
7Amp-
OR2A12-
-
-
-
7Amp-
OR2A14-
-
-
-
7Amp-
OR2A2-
-
-
-
7Amp-
OR2A25-
-
-
-
7Amp-
OR2A42-
-
-
-
7Amp-
OR2A5-
-
-
-
7Amp-
OR2A7-
-
-
-
7Amp-
OR2AE1-
-
-
-
7Amp-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AT4-
-
-
-
1Loss-
OR2C1-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2F1-
-
-
-
7Amp-
OR2F2-
-
-
-
7Amp-
OR2S2-
-
-
-
1Loss-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2Y1-
-
-
-
1Loss-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4A5-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4C6-
-
-
-
1Loss-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D5-
-
-
-
0Del-
OR4D6-
-
-
-
1Loss-
OR4D9-
-
-
-
1Loss-
OR4E1-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4P4-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR4S1-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5p.G145R
Missense
SNP
1.000
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-
OR52K2p.S77F
Missense
SNP
1.000
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-
OR5A1-
-
-
-
1Loss-
OR5A2-
-
-
-
1Loss-
OR5AK2-
-
-
-
1Loss-
OR5AN1-
-
-
-
1Loss-
OR5AP2-
-
-
-
1Loss-
OR5AR1-
-
-
-
1Loss-
OR5AS1-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5B12-
-
-
-
1Loss-
OR5B17-
-
-
-
1Loss-
OR5B2-
-
-
-
1Loss-
OR5B21-
-
-
-
1Loss-
OR5B3-
-
-
-
1Loss-
OR5D13-
-
-
-
1Loss-
OR5D14-
-
-
-
1Loss-
OR5D16-
-
-
-
1Loss-
OR5D18-
-
-
-
1Loss-
OR5F1-
-
-
-
1Loss-
OR5I1-
-
-
-
1Loss-
OR5J2-
-
-
-
1Loss-
OR5K2p.M228I
Missense
SNP
0.505
2--
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5M1-
-
-
-
1Loss-
OR5M10-
-
-
-
1Loss-
OR5M11-
-
-
-
1Loss-
OR5M3-
-
-
-
1Loss-
OR5M8-
-
-
-
1Loss-
OR5M9-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5R1-
-
-
-
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5W2-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6B1-
-
-
-
7Amp-
OR6C4p.G39E
Missense
SNP
0.516
2--
OR6J1-
-
-
-
1Loss-
OR6M1-
-
-
-
0Del-
OR6Q1-
-
-
-
1Loss-
OR6S1-
-
-
-
1Loss-
OR6T1-
-
-
-
0Del-
OR6V1-
-
-
-
7Amp-
OR6X1-
-
-
-
0Del-
OR8A1-
-
-
-
0Del-
OR8B12-
-
-
-
0Del-
OR8B2-
-
-
-
0Del-
OR8B3-
-
-
-
0Del-
OR8B4-
-
-
-
0Del-
OR8B8-
-
-
-
0Del-
OR8D1-
-
-
-
0Del-
OR8D2-
-
-
-
0Del-
OR8D4-
-
-
-
0Del-
OR8G1-
-
-
-
0Del-
OR8G5-
-
-
-
0Del-
OR8H1-
-
-
-
1Loss-
OR8H2-
-
-
-
1Loss-
OR8H3-
-
-
-
1Loss-
OR8I2-
-
-
-
1Loss-
OR8J1-
-
-
-
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K1-
-
-
-
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8U1-
-
-
-
1Loss-
OR9A2-
-
-
-
7Amp-
OR9A4-
-
-
-
3Gain-
OR9G1-
-
-
-
1Loss-
OR9G4-
-
-
-
1Loss-
OR9I1-
-
-
-
1Loss-
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORAI2-
-
-
-
5Amp-
ORAI3-
-
-
-
1Loss-
ORC5-
-
-
-
4Gain-
ORC6-
-
-
-
1Loss-
OSBP-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSBPL3-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSMR-
-
-
-
1Loss-
OSTC-
-
-
-
1Loss-
OTOA-
-
-
-
1Loss-
OTOG-
-
-
-
1Loss-
OTOP1-
-
-
-
1Loss-
OTP-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTULIN-
-
-
-
1Loss-
OTULINL-
-
-
-
1Loss-
OTX2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OVOL1-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
OXCT1-
-
-
-
1Loss-
P2RX3-
-
-
-
1Loss-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P4HA1-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HA3-
-
-
-
1Loss-
PAAF1-
-
-
-
1Loss-
PABPC4L-
-
-
-
1Loss-
PABPN1-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACS1-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
0Del-
PAGR1-
-
-
-
1Loss-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
1Loss-
PAIP2-
-
-
-
1Loss-
PAK1-
-
-
-
2-GDPD5--PAK1
PALB2-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PALLD-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAM16-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PANX1-
-
-
-
0Del-
PANX3-
-
-
-
0Del-
PAOX-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPOLB-
-
-
-
1Loss-
PAPSS1-
-
-
-
1Loss-
PAPSS2-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR4-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARG-
-
-
-
1Loss-
PARM1-
-
-
-
1Loss-
PARN-
-
-
-
1Loss-
PARP12-
-
-
-
7Amp-
PARP2-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PARS2-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PATE1-
-
-
-
0Del-
PATE2-
-
-
-
0Del-
PATE3-
-
-
-
0Del-
PATE4-
-
-
-
0Del-
PATJ-
-
-
-
1Loss-
PATL1-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX4-
-
-
-
5Amp-
PAX5-
-
-
-
1Loss-
PAX6-
-
-
-
1Loss-
PAX9-
-
-
-
1Loss-
PAXIP1-
-
-
-
7Amp-
PBLD-
-
-
-
1Loss-
PC-
-
-
-
1Loss-
PCBD1-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH10-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDH9-
-
-
-
3Gain-
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-
PCF11-
-
-
-
0Del-
PCGF3-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCK2-
-
-
-
1Loss-
PCLO-
-
-
-
5AmpLHFPL3-AS1--PCLO
PCNX1-
-
-
-
1Loss-
PCNX3-
-
-
-
1Loss-
PCNX4-
-
-
-
1Loss-
PCOLCE-
-
-
-
7Amp-
PCSK1-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK7-
-
-
-
0Del-
PCSK9-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PDAP1-
-
-
-
3GainPDAP1--AC092634.5
PDCD11-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD6-
-
-
-
1Loss-
PDCL2-
-
-
-
1Loss-
PDE1C-
-
-
-
1Loss-
PDE2A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4B-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE5A-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
1Loss-
PDGFC-
-
-
-
1Loss-
PDGFD-
-
-
-
0Del-
PDGFRA-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA2-
-
-
-
1Loss-
PDIA4-
-
-
-
7Amp-
PDILT-
-
-
-
1Loss-
PDK4-
-
-
-
6Amp-
PDLIM1-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDS5A-
-
-
-
1Loss-
PDXDC1-
-
-
-
1Loss-
PDZD2-
-
-
-
1Loss-
PDZD3-
-
-
-
0Del-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZD9-
-
-
-
1Loss-
PDZRN3-
-
-
-
3Gain-
PEAK3-
-
-
-
1Loss-
PEG10-
-
-
-
6Amp-
PELI2-
-
-
-
1Loss-
PELI3-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PEX1-
-
-
-
6Amp-
PEX16-
-
-
-
1Loss-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFKFB3-
-
-
-
3Gain-
PFKP-
-
-
-
3Gain-
PFN3-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAM2-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGF-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGM1-
-
-
-
1Loss-
PGM2-
-
-
-
1Loss-
PGM2L1-
-
-
-
1Loss-
PGP-
-
-
-
1Loss-
PGR-
-
-
-
0Del-
PGRMC2-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHF14-
-
-
-
1Loss-
PHF21A-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHKB-
-
-
-
1Loss-
PHKG1-
-
-
-
1Loss-
PHKG2-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDB1-
-
-
-
0Del-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHOX2A-
-
-
-
1Loss-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF2-
-
-
-
5Amp-
PHYH-
-
-
-
3Gain-
PHYHIPL-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI4K2A-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PICALM-
-
-
-
0Del-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIEZO2-
-
-
-
1Loss-
PIGG-
-
-
-
1Loss-
PIGH-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIGQ-
-
-
-
1Loss-
PIGY-
-
-
-
1Loss-
PIH1D2-
-
-
-
0Del-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CGp.G540R
Missense
SNP
0.394
5Amp-
PIK3R1-
-
-
-
1Loss-
PILRA-
-
-
-
7Amp-
PILRB-
-
-
-
7AmpPILRB--HGF
PIP-
-
-
-
7Amp-
PIP4P1-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PITPNM1-
-
-
-
1Loss-
PITRM1-
-
-
-
3Gain-
PITX1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL4-
-
-
-
0Del-
PJA2-
-
-
-
1Loss-
PKD1-
-
-
-
1Loss-
PKD1L1-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKMYT1-
-
-
-
1Loss-
PKN2-
-
-
-
1Loss-
PKNOX2-
-
-
-
0Del-
PKP3-
-
-
-
1Loss-
PLA2G10-
-
-
-
1Loss-
PLA2G12A-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLAA-
-
-
-
1Loss-
PLAC8-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAC9-
-
-
-
1Loss-
PLAU-
-
-
-
1Loss-
PLCB3-
-
-
-
1Loss-
PLCE1-
-
-
-
1Loss-
PLCG2-
-
-
-
1Loss-
PLCXD3-
-
-
-
1Loss-
PLCZ1p.E306K
Missense
SNP
0.528
2--
PLEK2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHA8-
-
-
-
1Loss-
PLEKHB1-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHS1-
-
-
-
1Loss-
PLET1-
-
-
-
0Del-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLK1-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLK4-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLLP-
-
-
-
1Loss-
PLOD3-
-
-
-
5Amp-
PLPP1-
-
-
-
1Loss-
PLPP3-
-
-
-
1Loss-
PLPP4-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLXNA4-
-
-
-
7AmpSTMP1--PLXNA4
PMAIP1-
-
-
-
1Loss-
PMFBP1-
-
-
-
1Loss-
PMM2-
-
-
-
1Loss-
PMPCB-
-
-
-
5Amp-
PMS2-
-
-
-
1Loss-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3p.K154I
Missense
SNP
1.000
1Loss-
PNMA1-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA8p.R187H
Missense
SNP
0.771
5Amp-
POC5-
-
-
-
1Loss-
PODXL-
-
-
-
7Amp-
POLA2-
-
-
-
1Loss-
POLD2-
-
-
-
1Loss-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLE2-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLM-
-
-
-
1Loss-
POLN-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2C-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2G-
-
-
-
1Loss-
POLR2J-
-
-
-
5Amp-
POLR2J2-
-
-
-
5Amp-
POLR2J3-
-
-
-
5Amp-
POLR2L-
-
-
-
1Loss-
POLR3A-
-
-
-
1Loss-
POLR3E-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POLR3K-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
4Gain-
POMT2-
-
-
-
1Loss-
POMZP3-
-
-
-
6Amp-
PON1-
-
-
-
6Amp-
PON2-
-
-
-
6Amp-
PON3-
-
-
-
6Amp-
POP7-
-
-
-
5Amp-
POR-
-
-
-
6Amp-
POT1-
-
-
-
5AmpBRAF--POT1
POT1--TPST1
POTEC-
-
-
-
1Loss-
POU2AF1-
-
-
-
0Del-
POU2F3-
-
-
-
0Del-
POU4F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
POU6F2-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPARGC1A-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPEF2-
-
-
-
1Loss-
PPFIA1-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPIA-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPID-
-
-
-
1Loss-
PPIF-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPL-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1Ep.G436S
Missense
SNP
0.461
2--
PPM1K-
-
-
-
1Loss-
PPME1-
-
-
-
1Loss-
PPP1CA-
-
-
-
1Loss-
PPP1R14B-
-
-
-
1Loss-
PPP1R17-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
7Amp-
PPP1R36-
-
-
-
1Loss-
PPP1R3A-
-
-
-
5Amp-
PPP1R3C-
-
-
-
1Loss-
PPP1R3E-
-
-
-
1Loss-
PPP1R9Ap.G1061E
Missense
SNP
0.220
6AmpTPST1--PPP1R9A
PPP2CA-
-
-
-
1Loss-
PPP2R1B-
-
-
-
0Del-
PPP2R2B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R3C-
-
-
-
1Loss-
PPP2R5B-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CA-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP4C-
-
-
-
1Loss-
PPP4R1-
-
-
-
1Loss-
PPP4R2-
-
-
-
3Gain-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP6R3-
-
-
-
3Gain-
PPRC1-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRB3p.R116C
Missense
SNP
0.500
2--
PRCP-
-
-
-
0Del-
PRDM10-
-
-
-
0Del-
PRDM11-
-
-
-
1Loss-
PRDM5-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9-
-
-
-
1Loss-
PRDX3-
-
-
-
1Loss-
PRDX5-
-
-
-
1Loss-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRELID3A-
-
-
-
1Loss-
PREX2p.L768F
Missense
SNP
0.467
2--
PRF1-
-
-
-
1Loss-
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
1Loss-
PRKAA2-
-
-
-
1Loss-
PRKACB-
-
-
-
1Loss-
PRKAG2-
-
-
-
7Amp-
PRKAR1B-
-
-
-
1Loss-
PRKAR2B-
-
-
-
5Amp-
PRKCB-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCQ-
-
-
-
3Gain-
PRKD1-
-
-
-
1Loss-
PRKG1-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKRIP1-
-
-
-
5Amp-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
1Loss-
PRM1-
-
-
-
1Loss-
PRM2-
-
-
-
1Loss-
PRM3-
-
-
-
1Loss-
PRMT3-
-
-
-
1Loss-
PRMT5-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PROK2-
-
-
-
3Gain-
PROM1-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROSER2-
-
-
-
3Gain-
PROX2-
-
-
-
1Loss-
PRPF18-
-
-
-
3Gain-
PRPF19-
-
-
-
3Gain-
PRPF39-
-
-
-
1Loss-
PRPS1L1-
-
-
-
1Loss-
PRR14-
-
-
-
1Loss-
PRR15-
-
-
-
1Loss-
PRR16-
-
-
-
1Loss-
PRR23D1-
-
-
-
3Gain-
PRR23D2-
-
-
-
3Gain-
PRR26-
-
-
-
3Gain-
PRR27-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR35-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRR9p.E63K
Missense
SNP
0.493
2--
PRRC1-
-
-
-
1Loss-
PRRG4-
-
-
-
1Loss-
PRRT2-
-
-
-
1Loss-
PRRT4-
-
-
-
5Amp-
PRSS1-
-
-
-
7Amp-
PRSS12-
-
-
-
1Loss-
PRSS2-
-
-
-
7Amp-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS23-
-
-
-
0Del-
PRSS27-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS36-
-
-
-
1Loss-
PRSS37-
-
-
-
3Gain-
PRSS41-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRSS58-
-
-
-
7Amp-
PRSS8-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PSAP-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSMA1-
-
-
-
1Loss-
PSMA2-
-
-
-
1Loss-
PSMA3-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMA8-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMC1-
-
-
-
1Loss-
PSMC2-
-
-
-
5Amp-
PSMC3-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSMG2-
-
-
-
1Loss-
PSMG3-
-
-
-
1Loss-
PSPH-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
3Gain-
PTGDR-
-
-
-
1Loss-
PTGDR2-
-
-
-
3Gain-
PTGER2-
-
-
-
1Loss-
PTGER3-
-
-
-
1Loss-
PTGER4-
-
-
-
1Loss-
PTGFR-
-
-
-
1Loss-
PTGR2-
-
-
-
1Loss-
PTH-
-
-
-
1Loss-
PTN-
-
-
-
7Amp-
PTPMT1-
-
-
-
1Loss-
PTPN12-
-
-
-
5Amp-
PTPN13-
-
-
-
1Loss-
PTPN2-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN5-
-
-
-
1Loss-
PTPRCAP-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRE-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRN2-
-
-
-
7Amp-
PTPROp.E769K
Missense
SNP
0.506
2--
PTPRZ1-
-
-
-
5Amp-
PTS-
-
-
-
0Del-
PTTG1-
-
-
-
1Loss-
PTTG2-
-
-
-
1Loss-
PTX4-
-
-
-
1Loss-
PUM3-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
1Loss-
PUS3-
-
-
-
0Del-
PUS7-
-
-
-
7Amp-
PVRIG-
-
-
-
7Amp-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PYCARD-
-
-
-
1Loss-
PYDC1-
-
-
-
1Loss-
PYGL-
-
-
-
1Loss-
PYGM-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QPRT-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QSER1-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP3-
-
-
-
1Loss-
RAB12-
-
-
-
1Loss-
RAB15-
-
-
-
1Loss-
RAB19-
-
-
-
7Amp-
RAB1B-
-
-
-
1Loss-
RAB24-
-
-
-
1Loss-
RAB26-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB2B-
-
-
-
1Loss-
RAB30-
-
-
-
0Del-
RAB30-AS1-
-
-
-
NDNDRAB30-AS1--GAB2
RAB31-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB38-
-
-
-
0Del-
RAB39A-
-
-
-
0Del-
RAB3C-
-
-
-
1Loss-
RAB3IL1-
-
-
-
5Amp-
RAB40C-
-
-
-
1Loss-
RAB6A-
-
-
-
1Loss-
RABEP2-
-
-
-
1Loss-
RABGEF1-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RABGGTB-
-
-
-
1Loss-
RAC1-
-
-
-
1Loss-
RACK1-
-
-
-
1Loss-
RAD1-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD50-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD9A-
-
-
-
1Loss-
RADIL-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI14-
-
-
-
1Loss-
RALA-
-
-
-
1Loss-
RALBP1-
-
-
-
1Loss-
RALGAPA1-
-
-
-
1Loss-
RAMP3-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP3L-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAPGEF2-
-
-
-
1Loss-
RAPGEF5-
-
-
-
1Loss-
RAPGEF6-
-
-
-
1Loss-
RAPSN-
-
-
-
1Loss-
RARRES2-
-
-
-
7Amp-
RARRES3-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA4-
-
-
-
5Amp-
RASA4B-
-
-
-
5Amp-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGEF1C-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP2-
-
-
-
1Loss-
RASL11B-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF6-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RAVER2-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RBAK-
-
-
-
1Loss-
RBAK-RBAKDN-
-
-
-
1Loss-
RBBP6-
-
-
-
1Loss-
RBBP8-
-
-
-
1Loss-
RBFA-
-
-
-
1Loss-
RBFOX1-
-
-
-
1Loss-
RBL2-
-
-
-
1Loss-
RBM17-
-
-
-
3Gain-
RBM20-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM25-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
5Amp-
RBM33-
-
-
-
7Amp-
RBM46-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM48-
-
-
-
6Amp-
RBM7-
-
-
-
0Del-
RBMXL1-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RCC1L-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCOR2-
-
-
-
1Loss-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDX-
-
-
-
0Del-
REC8-
-
-
-
1Loss-
RECK-
-
-
-
1Loss-
REELD1-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELA-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL1-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RELN-
-
-
-
5Amp-
RELT-
-
-
-
1Loss-
REM2-
-
-
-
1Loss-
REPIN1-
-
-
-
7Amp-
REST-
-
-
-
1Loss-
RET-
-
-
-
1Loss-
RETREG1-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO2-
-
-
-
0Del-
REXO5-
-
-
-
1Loss-
RFC1-
-
-
-
1Loss-
RFC2-
-
-
-
6Amp-
RFESD-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGR-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS11-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS14-
-
-
-
1Loss-
RGS6-
-
-
-
1Loss-
RGS7BP-
-
-
-
1Loss-
RHBDD2-
-
-
-
6Amp-
RHBDF1-
-
-
-
1Loss-
RHBDL1-
-
-
-
1Loss-
RHEB-
-
-
-
7Amp-
RHOBTB1-
-
-
-
1Loss-
RHOBTB3-
-
-
-
1Loss-
RHOD-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOT2-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RICTOR-
-
-
-
1Loss-
RIN1-
-
-
-
1Loss-
RIN3-
-
-
-
1Loss-
RINT1-
-
-
-
7Amp-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
1Loss-
RIOX1-
-
-
-
1Loss-
RIPK3-
-
-
-
1Loss-
RIPOR1-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMC1-
-
-
-
1Loss-
RMI2-
-
-
-
1Loss-
RMND5B-
-
-
-
1Loss-
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH2C-
-
-
-
1Loss-
RNF121-
-
-
-
3Gain-
RNF125-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF130-
-
-
-
1Loss-
RNF133-
-
-
-
5Amp-
RNF138-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
5Amp-
RNF150-
-
-
-
1Loss-
RNF151-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF169-
-
-
-
1Loss-
RNF175-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF212B-
-
-
-
1Loss-
RNF214-
-
-
-
0Del-
RNF216-
-
-
-
1Loss-
RNF26-
-
-
-
0Del-
RNF31-
-
-
-
1Loss-
RNF32-
-
-
-
7Amp-
RNF38-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF40-
-
-
-
1Loss-
RNF44-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
RNMT-
-
-
-
1Loss-
RNPS1-
-
-
-
1Loss-
ROBO1-
-
-
-
3Gain-
ROBO2-
-
-
-
3Gain-
ROBO3-
-
-
-
0Del-
ROBO4-
-
-
-
0Del-
ROCK1-
-
-
-
1Loss-
ROGDI-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
ROPN1L-
-
-
-
1Loss-
ROR1-
-
-
-
1Loss-
RP11-240B13.2p.E534K
Missense
SNP
0.477
NDND-
RP9-
-
-
-
1Loss-
RPA3-
-
-
-
1Loss-
RPAP2-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPEL1-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPGRIP1L-
-
-
-
1Loss-
RPL10L-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL36AL-
-
-
-
1Loss-
RPL37-
-
-
-
1Loss-
RPL3L-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPL9-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
3Gain-
RPRD1A-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS15A-
-
-
-
1Loss-
RPS2-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS25-
-
-
-
0Del-
RPS29-
-
-
-
1Loss-
RPS3-
-
-
-
1Loss-
RPS3A-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA4-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KB2-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPUSD1-
-
-
-
1Loss-
RPUSD4-
-
-
-
0Del-
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRH-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRN3-
-
-
-
1Loss-
RRP12-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RSBN1L-
-
-
-
5Amp-
RSF1-
-
-
-
0Del-
RSL1D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
1Loss-
RSPH10B2-
-
-
-
1Loss-
RSPRY1-
-
-
-
1Loss-
RSU1-
-
-
-
3Gain-
RTKN2-
-
-
-
1Loss-
RTN1-
-
-
-
1Loss-
RTN3-
-
-
-
1Loss-
RTN4RL2-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUNDC3B-
-
-
-
4Gain-
RUSC2-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP3-
-
-
-
1Loss-
RYBP-
-
-
-
3Gain-
S100P-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAC3D1-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD13-
-
-
-
1Loss-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD8-
-
-
-
1Loss-
SAMD9-
-
-
-
6Amp-
SAMD9L-
-
-
-
6Amp-
SAP25-
-
-
-
7Amp-
SAP30-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SART1-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SBF2-
-
-
-
1Loss-
SBK1-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SC5D-
-
-
-
0Del-
SCAMP1-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCFD1-
-
-
-
1Loss-
SCFD2-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1D1-
-
-
-
5Amp-
SCGB1D2-
-
-
-
5Amp-
SCGB1D4-
-
-
-
5Amp-
SCGB2A1-
-
-
-
5Amp-
SCGB2A2-
-
-
-
5Amp-
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCIN-
-
-
-
1Loss-
SCLT1-
-
-
-
1Loss-
SCN11Ap.S447F
Missense
SNP
0.425
2--
SCN2B-
-
-
-
0Del-
SCN3B-
-
-
-
0Del-
SCN4B-
-
-
-
0Del-
SCNN1B-
-
-
-
1Loss-
SCNN1G-
-
-
-
1Loss-
SCOC-
-
-
-
1Loss-
SCRG1-
-
-
-
1Loss-
SCRN1-
-
-
-
1Loss-
SCT-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDHA-
-
-
-
1Loss-
SDHAF3-
-
-
-
6Amp-
SDHD-
-
-
-
0Del-
SDK1-
-
-
-
1Loss-
SDR39U1-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SDR42E2-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L5-
-
-
-
1Loss-
SEC23A-
-
-
-
1Loss-
SEC23IP-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC24B-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A2-
-
-
-
3Gain-
SEC61G-
-
-
-
1Loss-
SEH1L-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SEL1L3-
-
-
-
1Loss-
SELEp.P321S
Missense
SNP
0.650
2--
SELENOF-
-
-
-
1Loss-
SELENOH-
-
-
-
1Loss-
SELENOP-
-
-
-
1Loss-
SEM1-
-
-
-
6AmpLIMK1--SEM1
SEMA3A-
-
-
-
5Amp-
SEMA3C-
-
-
-
5Amp-
SEMA3D-
-
-
-
5Amp-
SEMA3E-
-
-
-
5Amp-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
1Loss-
SEMA6A-
-
-
-
1Loss-
SEPHS1-
-
-
-
3Gain-
SEPHS2-
-
-
-
1Loss-
SEPSECS-
-
-
-
1Loss-
SEPT1-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT14-
-
-
-
1Loss-
SEPT7-
-
-
-
1Loss-
SEPT8-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE1-
-
-
-
5Amp-
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SESN3-
-
-
-
0Del-
SETBP1-
-
-
-
1Loss-
SETD1A-
-
-
-
1Loss-
SETD3-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SEZ6L2-
-
-
-
1Loss-
SF1-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B1p.L897P
Missense
SNP
0.384
2--
SF3B2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SFMBT2-
-
-
-
3Gain-
SFR1-
-
-
-
1Loss-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFTA3-
-
-
-
1Loss-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN1-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCB-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
6Amp-
SGF29-
-
-
-
1Loss-
SGIP1-
-
-
-
1Loss-
SGMS1-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B1-
-
-
-
1Loss-
SH2B2-
-
-
-
5Amp-
SH2D4B-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3D19-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GLB1-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHANK2-
-
-
-
1Loss-
SHB-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHH-
-
-
-
7Amp-
SHISA3-
-
-
-
1Loss-
SHISA9-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHQ1-
-
-
-
3Gain-
SHROOM1-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SHROOM4p.G1246R
Missense
SNP
0.407
NDND-
SHTN1-
-
-
-
1Loss-
SIAE-
-
-
-
0Del-
SIAH1-
-
-
-
1Loss-
SIDT2-
-
-
-
0Del-
SIGIRR-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIGMAR1-
-
-
-
1Loss-
SIK2-
-
-
-
0Del-
SIK3-
-
-
-
0Del-
SIL1-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIPA1-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKAP2-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
1Loss-
SLAIN2-
-
-
-
1Loss-
SLBP-
-
-
-
1Loss-
SLC10A1-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A7-
-
-
-
1Loss-
SLC12A9-
-
-
-
5Amp-
SLC13A1-
-
-
-
5Amp-
SLC13A4-
-
-
-
4Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A9-
-
-
-
1Loss-
SLC17A6-
-
-
-
1Loss-
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
1Loss-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC25A13-
-
-
-
6AmpSYPL1--SLC25A13
SLC25A16-
-
-
-
1Loss-
SLC25A2-
-
-
-
1Loss-
SLC25A21-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A31-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A40-
-
-
-
1Loss-
SLC25A45-
-
-
-
1Loss-
SLC25A46-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
5Amp-
SLC26A4-
-
-
-
5Amp-
SLC26A5-
-
-
-
5Amp-
SLC27A6-
-
-
-
1Loss-
SLC29A2-
-
-
-
1Loss-
SLC29A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
1Loss-
SLC2A9-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A9-
-
-
-
1Loss-
SLC34A1-
-
-
-
1Loss-
SLC34A2-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35B4-
-
-
-
3Gain-
SLC35C1-
-
-
-
1Loss-
SLC35D1-
-
-
-
1Loss-
SLC35F2-
-
-
-
0Del-
SLC35F4-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G4-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC36A4-
-
-
-
0Del-
SLC37A2-
-
-
-
0Del-
SLC37A3-
-
-
-
7Amp-
SLC37A4-
-
-
-
0Del-
SLC38A6-
-
-
-
1Loss-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A13-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC39A8-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC43A1-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC45A2-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A2-
-
-
-
7Amp-
SLC4A4-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC5A11-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC6A18-
-
-
-
1Loss-
SLC6A19-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC6A3-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC7A11-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC9A3-
-
-
-
1Loss-
SLC9A3R2-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLCO2B1-
-
-
-
1Loss-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLIRP-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLK-
-
-
-
1Loss-
SLN-
-
-
-
0Del-
SLU7-
-
-
-
1Loss-
SLX1A-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4-
-
-
-
1Loss-
SMAD1-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCA5-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCD3-
-
-
-
7Amp-
SMC3-
-
-
-
1Loss-
SMCHD1-
-
-
-
1Loss-
SMCO4-
-
-
-
0Del-
SMG1-
-
-
-
1Loss-
SMIM14-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
5Amp-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMKR1-
-
-
-
7AmpMKLN1--SMKR1
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMO-
-
-
-
8Amp-
SMOC1-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTNL1-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAPC1-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNCA-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
5Amp-
SNN-
-
-
-
1Loss-
SNRNP25-
-
-
-
1Loss-
SNRPD1-
-
-
-
1Loss-
SNTB2-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX10-
-
-
-
1Loss-
SNX13-
-
-
-
1Loss-
SNX15-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
0Del-
SNX2-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX29-
-
-
-
1Loss-
SNX32-
-
-
-
1Loss-
SNX6-
-
-
-
1Loss-
SNX8-
-
-
-
1Loss-
SOCS1-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SORBS1-
-
-
-
1Loss-
SORBS2-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SORL1-
-
-
-
0Del-
SOS2-
-
-
-
1Loss-
SOSTDC1-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOWAHB-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SOX8-
-
-
-
1Loss-
SP4-
-
-
-
1Loss-
SP8-
-
-
-
1Loss-
SPA17-
-
-
-
0Del-
SPAAR-
-
-
-
1Loss-
SPAG11A-
-
-
-
3Gain-
SPAG11B-
-
-
-
3Gain-
SPAG8-
-
-
-
1Loss-
SPAM1p.S350F
Missense
SNP
0.760
5Amp-
SPARC-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA18-
-
-
-
1Loss-
SPATA19-
-
-
-
0Del-
SPATA24-
-
-
-
1Loss-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA4-
-
-
-
1Loss-
SPATA48-
-
-
-
1Loss-
SPATA5-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPCS2-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYC-
-
-
-
1Loss-
SPDYE3-
-
-
-
7Amp-
SPEF2-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPI1-
-
-
-
1Loss-
SPIN1p.D125V
Missense
SNP
0.483
2--
SPINDOC-
-
-
-
1Loss-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPIRE1-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPOCK3-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRY1-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPSB3-
-
-
-
1Loss-
SPTB-
-
-
-
1Loss-
SPTBN4p.V329M
Missense
SNP
0.543
2--
SPTLC2-
-
-
-
1Loss-
SPTSSA-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRCAP-
-
-
-
1Loss-
SRD5A1-
-
-
-
1Loss-
SRD5A3-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRI-
-
-
-
5AmpVPS50--SRI
SRL-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP54-
-
-
-
1Loss-
SRP72-
-
-
-
1Loss-
SRPK2-
-
-
-
7Amp-
SRPRA-
-
-
-
0Del-
SRRM2-
-
-
-
1Loss-
SRRM3-
-
-
-
6Amp-
SRRT-
-
-
-
5Amp-
SRSF11-
-
-
-
1Loss-
SRSF5-
-
-
-
1Loss-
SRSF8-
-
-
-
0Del-
SS18-
-
-
-
1Loss-
SSBP1-
-
-
-
7Amp-
SSBP2-
-
-
-
1Loss-
SSC4D-
-
-
-
6Amp-
SSH3-
-
-
-
1Loss-
SSMEM1-
-
-
-
7Amp-
SSPO-
-
-
-
7Amp-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SSTR1-
-
-
-
1Loss-
SSTR5-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSU72P8-
-
-
-
5Amp-
SSX2IP-
-
-
-
1Loss-
ST14-
-
-
-
0Del-
ST3GAL2-
-
-
-
1Loss-
ST3GAL4-
-
-
-
0Del-
ST5-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
ST7-
-
-
-
5Amp-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
3Gain-
STAG3-
-
-
-
7Amp-
STAG3L1-
-
-
-
NDNDSTAG3L1--CALN1
STAM-
-
-
-
3Gain-
STAMBPL1-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STARD10-
-
-
-
1Loss-
STARD3NL-
-
-
-
1Loss-
STARD4-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STATH-
-
-
-
1Loss-
STBD1-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STEAP1-
-
-
-
5Amp-
STEAP1B-
-
-
-
1Loss-
STEAP2-
-
-
-
1Loss-
STEAP4-
-
-
-
5Amp-
STIM1-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STIP1-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK31-
-
-
-
1Loss-
STK32A-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STMP1-
-
-
-
7AmpSTMP1--PLXNA4
STN1-
-
-
-
1Loss-
STOML2-
-
-
-
1Loss-
STON2-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STRA8-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STRN3-
-
-
-
1Loss-
STT3A-
-
-
-
0Del-
STUB1-
-
-
-
1Loss-
STX18-
-
-
-
1Loss-
STX1A-
-
-
-
3Gain-
STX1B-
-
-
-
1Loss-
STX3-
-
-
-
1Loss-
STX4-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
STYXL1-
-
-
-
6Amp-
SUB1-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SUGCT-
-
-
-
1Loss-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SUMF2-
-
-
-
1Loss-
SUN1-
-
-
-
1Loss-
SUN3-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUPV3L1-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SUV39H2-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SVIP-
-
-
-
1Loss-
SVOPL-
-
-
-
7Amp-
SWAP70-
-
-
-
1Loss-
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYN3p.P232S
Missense
SNP
0.523
2--
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNGR3-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPO2L-
-
-
-
1Loss-
SYPL1-
-
-
-
5AmpSYPL1--SLC25A13
SYT12-
-
-
-
1Loss-
SYT13-
-
-
-
1Loss-
SYT15-
-
-
-
1Loss-
SYT16-
-
-
-
1Loss-
SYT17-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL2-
-
-
-
0Del-
SYVN1-
-
-
-
1Loss-
TAC1-
-
-
-
6Amp-
TACC2-
-
-
-
1Loss-
TACC3-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TACR3-
-
-
-
1Loss-
TACSTD2-
-
-
-
1Loss-
TADA2B-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF1C-
-
-
-
1Loss-
TAF1D-
-
-
-
0Del-
TAF1L-
-
-
-
1Loss-
TAF3-
-
-
-
3Gain-
TAF4B-
-
-
-
1Loss-
TAF5-
-
-
-
1Loss-
TAF6-
-
-
-
7Amp-
TAF6L-
-
-
-
1Loss-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN-
-
-
-
0Del-
TALDO1-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAOK2-
-
-
-
1Loss-
TAPT1-
-
-
-
1Loss-
TARS-
-
-
-
1Loss-
TAS2R1-
-
-
-
1Loss-
TAS2R16-
-
-
-
5Amp-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
7Amp-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
7Amp-
TAS2R41-
-
-
-
7Amp-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
7Amp-
TAT-
-
-
-
1Loss-
TAX1BP1-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10B-
-
-
-
1Loss-
TBC1D10C-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D19-
-
-
-
1Loss-
TBC1D24-
-
-
-
1Loss-
TBC1D9-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCEL-
-
-
-
0Del-
TBCK-
-
-
-
1Loss-
TBL3-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBRG1-
-
-
-
0Del-
TBRG4-
-
-
-
1Loss-
TBX10-
-
-
-
1Loss-
TBX20-
-
-
-
1Loss-
TBX6-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TBXAS1-
-
-
-
7Amp-
TC2N-
-
-
-
1Loss-
TCAF1-
-
-
-
7Amp-
TCAF2-
-
-
-
7Amp-
TCERG1-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCIRG1-
-
-
-
1Loss-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP11L1-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDP1-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TEAD1-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TECPR1-
-
-
-
6Amp-
TECRL-
-
-
-
1Loss-
TECTA-
-
-
-
0Del-
TECTB-
-
-
-
1Loss-
TEDC2-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TEKT5-
-
-
-
1Loss-
TELO2-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TENM4-
-
-
-
0Del-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TEP1-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TERT-
-
-
-
1Loss-
TES-
-
-
-
5Amp-
TESK1-
-
-
-
1Loss-
TESMIN-
-
-
-
3Gain-
TET1-
-
-
-
1Loss-
TET2-
-
-
-
1Loss-
TEX12-
-
-
-
0Del-
TEX36-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX47-
-
-
-
5Amp-
TFAM-
-
-
-
1Loss-
TFAP4-
-
-
-
1Loss-
TFEC-
-
-
-
5Amp-
TFPI2-
-
-
-
6Amp-
TFR2-
-
-
-
5Amp-
TGFB1I1-
-
-
-
1Loss-
TGFB3-
-
-
-
1Loss-
TGFBI-
-
-
-
1Loss-
TGFBR3-
-
-
-
1Loss-
TGIF1-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP12-
-
-
-
1Loss-
THAP5-
-
-
-
5Amp-
THAP6-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THEGL-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC1-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THOC6-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THRSP-
-
-
-
0Del-
THSD7A-
-
-
-
1Loss-
THSD7Bp.S231F
Missense
SNP
0.510
2--
THTPA-
-
-
-
1Loss-
THUMPD1-
-
-
-
1Loss-
THY1-
-
-
-
0Del-
THYN1-
-
-
-
0Del-
TIAL1-
-
-
-
1Loss-
TIFA-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIGD6-
-
-
-
1Loss-
TIGD7-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM10-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM8B-
-
-
-
0Del-
TIMM9-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIRAP-
-
-
-
0Del-
TJP3-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLL1-
-
-
-
1Loss-
TLL2-
-
-
-
1Loss-
TLN1-
-
-
-
1Loss-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR6-
-
-
-
1Loss-
TLR8p.E74K
Missense
SNP
0.450
NDND-
TLX1-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM2D1-
-
-
-
1Loss-
TM7SF2-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TMA16-
-
-
-
1Loss-
TMC5-
-
-
-
1Loss-
TMC7-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED4-
-
-
-
1Loss-
TMED5-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEM106B-
-
-
-
1Loss-
TMEM109-
-
-
-
3Gain-
TMEM114-
-
-
-
1Loss-
TMEM120A-
-
-
-
6Amp-
TMEM123-
-
-
-
0Del-
TMEM126A-
-
-
-
0Del-
TMEM126B-
-
-
-
0Del-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM130-
-
-
-
3Gain-
TMEM131L-
-
-
-
1Loss-
TMEM132Cp.G235E
Missense
SNP
0.495
2--
TMEM134-
-
-
-
1Loss-
TMEM135-
-
-
-
0Del-
TMEM136-
-
-
-
0Del-
TMEM139-
-
-
-
7Amp-
TMEM140-
-
-
-
3Gain-
TMEM144-
-
-
-
1Loss-
TMEM150C-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM156-
-
-
-
1Loss-
TMEM159-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM165-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM168-
-
-
-
5Amp-
TMEM170A-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM176A-
-
-
-
7Amp-
TMEM176B-
-
-
-
7Amp-
TMEM178B-
-
-
-
4Gain-
TMEM179B-
-
-
-
1Loss-
TMEM184A-
-
-
-
1Loss-
TMEM184C-
-
-
-
1Loss-
TMEM186-
-
-
-
1Loss-
TMEM192-
-
-
-
1Loss-
TMEM196-
-
-
-
1Loss-
TMEM200C-
-
-
-
1Loss-
TMEM204-
-
-
-
1Loss-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
7Amp-
TMEM213-
-
-
-
7Amp-
TMEM215-
-
-
-
1Loss-
TMEM218-
-
-
-
0Del-
TMEM219-
-
-
-
1Loss-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
0Del-
TMEM225B-
-
-
-
7Amp-
TMEM229A-
-
-
-
5Amp-
TMEM229B-
-
-
-
1Loss-
TMEM231-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM236-
-
-
-
3Gain-
TMEM241-
-
-
-
1Loss-
TMEM243-
-
-
-
1Loss-
TMEM248-
-
-
-
3Gain-
TMEM25-
-
-
-
0Del-
TMEM251-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM254-
-
-
-
1Loss-
TMEM258-
-
-
-
3Gain-
TMEM259-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM267-
-
-
-
1Loss-
TMEM270-
-
-
-
3Gain-
TMEM273-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM45B-
-
-
-
0Del-
TMEM60-
-
-
-
5Amp-
TMEM61-
-
-
-
1Loss-
TMEM63C-
-
-
-
1Loss-
TMEM72-
-
-
-
1Loss-
TMEM80-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM8A-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
3Gain-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS13-
-
-
-
0Del-
TMPRSS4-
-
-
-
0Del-
TMPRSS5-
-
-
-
0Del-
TMPRSS9-
-
-
-
1Loss-
TMUB1-
-
-
-
7Amp-
TMX1-
-
-
-
1Loss-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF17-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNKS1BP1-
-
-
-
1Loss-
TNKS2-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNI3K-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNP2-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNPO3-
-
-
-
1Loss-
TNRC18-
-
-
-
1Loss-
TNRC6A-
-
-
-
1Loss-
TNS3-
-
-
-
1Loss-
TOGARAM1-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOMM20L-
-
-
-
1Loss-
TOMM5-
-
-
-
1Loss-
TOMM7-
-
-
-
1Loss-
TOPORS-
-
-
-
1Loss-
TOX3-
-
-
-
1Loss-
TOX4-
-
-
-
1Loss-
TP53AIP1-
-
-
-
0Del-
TP53I11-
-
-
-
1Loss-
TP63p.P279S
Missense
SNP
0.510
2--
TPBGL-
-
-
-
1Loss-
TPCN2-
-
-
-
3Gain-
TPD52L3-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPK1-
-
-
-
7Amp-
TPM2-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPPP-
-
-
-
1Loss-
TPPP2-
-
-
-
1Loss-
TPPP3-
-
-
-
1Loss-
TPSAB1-
-
-
-
1Loss-
TPSB2-
-
-
-
1Loss-
TPSD1-
-
-
-
1Loss-
TPSG1-
-
-
-
1Loss-
TPST1-
-
-
-
4GainTPST1--PPP1R9A
POT1--TPST1
TRA2A-
-
-
-
1Loss-
TRADD-
-
-
-
1Loss-
TRAF6-
-
-
-
1Loss-
TRAF7-
-
-
-
1Loss-
TRAM1L1-
-
-
-
1Loss-
TRAP1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC4-
-
-
-
0Del-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRDMT1-
-
-
-
3Gain-
TRDV1-
-
-
-
1Loss-
TREH-
-
-
-
0Del-
TRHDEp.L752F
Missense
SNP
0.504
2--
TRIL-
-
-
-
1Loss-
TRIM2-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24-
-
-
-
7Amp-
TRIM29-
-
-
-
0Del-
TRIM3-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM4-
-
-
-
7Amp-
TRIM41-
-
-
-
1Loss-
TRIM44-
-
-
-
1Loss-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
0Del-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
0Del-
TRIM49D1-
-
-
-
0Del-
TRIM49D2-
-
-
-
0Del-
TRIM5-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM52-
-
-
-
1Loss-
TRIM56-
-
-
-
5Amp-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM64B-
-
-
-
0Del-
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM72-
-
-
-
1Loss-
TRIM73-
-
-
-
4Gain-
TRIM74-
-
-
-
3Gain-
TRIM75P-
-
-
-
1Loss-
TRIM77p.E57K
Missense
SNP
1.000
0Del-
TRIM8-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
1Loss-
TRIP11-
-
-
-
1Loss-
TRIP13-
-
-
-
1Loss-
TRIP6-
-
-
-
5Amp-
TRMT10A-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT112-
-
-
-
1Loss-
TRMT44-
-
-
-
1Loss-
TRMT5-
-
-
-
1Loss-
TRPC3-
-
-
-
1Loss-
TRPC6-
-
-
-
0Del-
TRPC7-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPT1-
-
-
-
1Loss-
TRPV5-
-
-
-
7Amp-
TRPV6-
-
-
-
7Amp-
TRRAP-
-
-
-
3Gain-
TRUB1-
-
-
-
1Loss-
TSC2-
-
-
-
1Loss-
TSC22D4-
-
-
-
5Amp-
TSG101-
-
-
-
1Loss-
TSGA10IP-
-
-
-
1Loss-
TSGA13-
-
-
-
7Amp-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSKU-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12-
-
-
-
5Amp-
TSPAN13-
-
-
-
1Loss-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN17-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN33-
-
-
-
5Amp-
TSPAN4-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSR3-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC12-
-
-
-
0Del-
TTC17-
-
-
-
1Loss-
TTC22-
-
-
-
1Loss-
TTC23L-
-
-
-
1Loss-
TTC26-
-
-
-
7Amp-
TTC29-
-
-
-
1Loss-
TTC33-
-
-
-
1Loss-
TTC36-
-
-
-
0Del-
TTC37-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTC4-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTC9C-
-
-
-
1Loss-
TTI2p.R355H
Missense
SNP
0.505
2--
TTLL5-
-
-
-
1Loss-
TTLL7-
-
-
-
1Loss-
TTR-
-
-
-
1Loss-
TTYH3-
-
-
-
1Loss-
TUB-
-
-
-
1Loss-
TUBAL3-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUBB6-
-
-
-
1Loss-
TUBB8-
-
-
-
3Gain-
TUBGCP2-
-
-
-
1Loss-
TUFM-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TVP23A-
-
-
-
1Loss-
TWIST1-
-
-
-
1Loss-
TWISTNB-
-
-
-
1Loss-
TWNK-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXNDC11-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC16-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TYMS-
-
-
-
1Loss-
TYR-
-
-
-
0Del-
TYRP1-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
TYW3-
-
-
-
1Loss-
UBA3-
-
-
-
3Gain-
UBA6-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBASH3B-
-
-
-
0Del-
UBE2B-
-
-
-
1Loss-
UBE2D1-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
1Loss-
UBE2H-
-
-
-
7Amp-
UBE2I-
-
-
-
1Loss-
UBE2K-
-
-
-
1Loss-
UBE2L6-
-
-
-
1Loss-
UBE2QL1-
-
-
-
1Loss-
UBE2R2-
-
-
-
1Loss-
UBE2U-
-
-
-
1Loss-
UBE3C-
-
-
-
7Amp-
UBE4A-
-
-
-
0Del-
UBFD1-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBN2-
-
-
-
7Amp-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR7-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBTFL1-
-
-
-
0Del-
UBXN1-
-
-
-
1Loss-
UCHL1-
-
-
-
1Loss-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UCP1-
-
-
-
1Loss-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UFSP1-
-
-
-
5Amp-
UFSP2-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10p.G522E
Missense
SNP
0.994
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
1Loss-
UGT3A2-
-
-
-
1Loss-
UGT8-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
UIMC1-
-
-
-
1Loss-
UMAD1-
-
-
-
1Loss-
UMOD-
-
-
-
1Loss-
UNC13B-
-
-
-
1Loss-
UNC5A-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC93B1-
-
-
-
1Loss-
UNCX-
-
-
-
1Loss-
UNKL-
-
-
-
1Loss-
UPF2-
-
-
-
3Gain-
UPK2-
-
-
-
0Del-
UPK3B-
-
-
-
6Amp-
UPK3BL1-
-
-
-
5Amp-
UPP1-
-
-
-
1Loss-
UQCC3-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRC2-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URGCP-
-
-
-
1Loss-
URGCP-MRPS24-
-
-
-
1Loss-
UROS-
-
-
-
1Loss-
USB1-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USO1-
-
-
-
1Loss-
USP1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP14-
-
-
-
1Loss-
USP17L13-
-
-
-
1Loss-
USP2-
-
-
-
0Del-
USP24-
-
-
-
1Loss-
USP28-
-
-
-
0Del-
USP31-
-
-
-
1Loss-
USP33-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP42-
-
-
-
1Loss-
USP46-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP54-
-
-
-
1Loss-
USP6p.D33N
Missense
SNP
0.597
2--
USP6NL-
-
-
-
3Gain-
USP7-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP3-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
UVRAG-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAPA-
-
-
-
1Loss-
VASH1-
-
-
-
1Loss-
VASN-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VCP-
-
-
-
1Loss-
VCPKMT-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VEGFB-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VGF-
-
-
-
5Amp-
VIM-
-
-
-
3Gain-
VIPAS39-
-
-
-
1Loss-
VIPR2-
-
-
-
3Gain-
VKORC1-
-
-
-
1Loss-
VKORC1L1-
-
-
-
4Gain-
VLDLR-
-
-
-
1Loss-
VOPP1-
-
-
-
1Loss-
VPS11-
-
-
-
0Del-
VPS26A-
-
-
-
1Loss-
VPS26B-
-
-
-
0Del-
VPS35-
-
-
-
1Loss-
VPS35L-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
1Loss-
VPS4A-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS50-
-
-
-
6AmpBMT2--VPS50
VPS50--SRI
VPS51-
-
-
-
1Loss-
VPS9D1-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG10L2-
-
-
-
0Del-
VSIG2-
-
-
-
0Del-
VSIR-
-
-
-
1Loss-
VSTM2A-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VSTM5-
-
-
-
0Del-
VSX2-
-
-
-
1Loss-
VTI1A-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA2-
-
-
-
1Loss-
VWA3A-
-
-
-
1Loss-
VWA5A-
-
-
-
0Del-
VWC2-
-
-
-
1Loss-
VWDEp.Y920C
Missense
SNP
1.000
1Loss-
WAPL-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASL-
-
-
-
5Amp-
WBP1L-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR24-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR37-
-
-
-
3Gain-
WDR41-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR63-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
1Loss-
WDR74-
-
-
-
1Loss-
WDR78-
-
-
-
1Loss-
WDR86-
-
-
-
7Amp-
WDR89-
-
-
-
1Loss-
WDR90-
-
-
-
1Loss-
WDR91-
-
-
-
3Gain-
WEE1-
-
-
-
1Loss-
WEE2-
-
-
-
7Amp-
WFDC1-
-
-
-
1Loss-
WFIKKN1-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WIPF3-
-
-
-
1Loss-
WIPI2p.A368V
Missense
SNP
1.000
1Loss-
WLS-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT16-
-
-
-
5Amp-
WNT2-
-
-
-
5Amp-
WNT8A-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WT1-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XPNPEP1-
-
-
-
1Loss-
XPO6-
-
-
-
1Loss-
XRCC2-
-
-
-
4Gain-
XRCC4-
-
-
-
1Loss-
XRRA1-
-
-
-
1Loss-
XYLT1-
-
-
-
1Loss-
YAE1-
-
-
-
1Loss-
YAP1-
-
-
-
0Del-
YES1-
-
-
-
1Loss-
YIF1A-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YKT6-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YPEL3-
-
-
-
1Loss-
YPEL4-
-
-
-
1Loss-
YTHDC1-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YWHAG-
-
-
-
6AmpYWHAG--HYAL4
ZADH2-
-
-
-
1Loss-
ZAN-
-
-
-
5Amp-
ZAR1-
-
-
-
1Loss-
ZBED2p.E190K
Missense
SNP
0.441
2--
ZBED3-
-
-
-
1Loss-
ZBED5-
-
-
-
1Loss-
ZBED6CL-
-
-
-
7Amp-
ZBED8-
-
-
-
1Loss-
ZBTB1-
-
-
-
1Loss-
ZBTB14-
-
-
-
1Loss-
ZBTB16-
-
-
-
0Del-
ZBTB25-
-
-
-
1Loss-
ZBTB3-
-
-
-
1Loss-
ZBTB44-
-
-
-
0Del-
ZBTB49-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZC2HC1C-
-
-
-
1Loss-
ZC3H12C-
-
-
-
0Del-
ZC3H14-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZC3H7A-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
7Amp-
ZC3HAV1L-
-
-
-
7Amp-
ZC3HC1p.R398W
Missense
SNP
0.146
7Amp-
ZCCHC10-
-
-
-
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24-
-
-
-
1Loss-
ZCCHC4-
-
-
-
1Loss-
ZCCHC7-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW1-
-
-
-
7Amp-
ZDHHC1-
-
-
-
1Loss-
ZDHHC11-
-
-
-
1Loss-
ZDHHC11B-
-
-
-
1Loss-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZDHHC24-
-
-
-
1Loss-
ZDHHC4-
-
-
-
1Loss-
ZDHHC5-
-
-
-
1Loss-
ZDHHC6-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZFAND2A-
-
-
-
1Loss-
ZFAND4-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP42-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFP90-
-
-
-
1Loss-
ZFP91-
-
-
-
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFR-
-
-
-
1Loss-
ZFR2-
-
-
-
1Loss-
ZFYVE1-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZFYVE28-
-
-
-
1Loss-
ZG16-
-
-
-
1Loss-
ZG16B-
-
-
-
1Loss-
ZGRF1-
-
-
-
1Loss-
ZKSCAN1-
-
-
-
7Amp-
ZKSCAN2-
-
-
-
1Loss-
ZKSCAN5-
-
-
-
7Amp-
ZMAT2-
-
-
-
1Loss-
ZMIZ1-
-
-
-
1Loss-
ZMIZ2-
-
-
-
1Loss-
ZMYND11-
-
-
-
3Gain-
ZNF107-
-
-
-
5Amp-
ZNF117-
-
-
-
4Gain-
ZNF12-
-
-
-
1Loss-
ZNF131-
-
-
-
1Loss-
ZNF141-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF174-
-
-
-
1Loss-
ZNF19-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF200-
-
-
-
1Loss-
ZNF202-
-
-
-
0Del-
ZNF205-
-
-
-
1Loss-
ZNF212-
-
-
-
7Amp-
ZNF213-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF22-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF263-
-
-
-
1Loss-
ZNF267-
-
-
-
1Loss-
ZNF273-
-
-
-
4Gain-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
5Amp-
ZNF282-
-
-
-
7Amp-
ZNF3-
-
-
-
7Amp-
ZNF300-
-
-
-
1Loss-
ZNF316-
-
-
-
1Loss-
ZNF319-
-
-
-
1Loss-
ZNF32-
-
-
-
1Loss-
ZNF326-
-
-
-
1Loss-
ZNF330-
-
-
-
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF346-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF394-
-
-
-
7Amp-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF398-
-
-
-
7Amp-
ZNF407-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF423-
-
-
-
1Loss-
ZNF425-
-
-
-
7Amp-
ZNF454-
-
-
-
1Loss-
ZNF467-
-
-
-
7Amp-
ZNF469-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF479-
-
-
-
1Loss-
ZNF48-
-
-
-
1Loss-
ZNF485-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF500-
-
-
-
1Loss-
ZNF503-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF518A-
-
-
-
1Loss-
ZNF518B-
-
-
-
1Loss-
ZNF519-
-
-
-
1Loss-
ZNF521-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF560p.D716N
Missense
SNP
0.516
2--
ZNF57-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF597-
-
-
-
1Loss-
ZNF598-
-
-
-
1Loss-
ZNF599p.S297F
Missense
SNP
0.426
2--
ZNF608-
-
-
-
1Loss-
ZNF622-
-
-
-
1Loss-
ZNF629-
-
-
-
1Loss-
ZNF644-
-
-
-
1Loss-
ZNF646-
-
-
-
1Loss-
ZNF655-
-
-
-
7Amp-
ZNF668-
-
-
-
1Loss-
ZNF679-
-
-
-
5Amp-
ZNF680-
-
-
-
1Loss-
ZNF688-
-
-
-
1Loss-
ZNF689-
-
-
-
1Loss-
ZNF713-
-
-
-
1Loss-
ZNF716-
-
-
-
1Loss-
ZNF717-
-
-
-
3Gain-
ZNF718-
-
-
-
1Loss-
ZNF720-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF727-
-
-
-
5Amp-
ZNF732-
-
-
-
1Loss-
ZNF735-
-
-
-
5Amp-
ZNF736-
-
-
-
1Loss-
ZNF746-
-
-
-
7Amp-
ZNF747-
-
-
-
1Loss-
ZNF75A-
-
-
-
1Loss-
ZNF764-
-
-
-
1Loss-
ZNF768-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF771-
-
-
-
1Loss-
ZNF775-
-
-
-
7Amp-
ZNF777-
-
-
-
7Amp-
ZNF778-
-
-
-
1Loss-
ZNF783-
-
-
-
7Amp-
ZNF785-
-
-
-
1Loss-
ZNF786-
-
-
-
7Amp-
ZNF789-
-
-
-
7Amp-
ZNF800-
-
-
-
5Amp-
ZNF804B-
-
-
-
5Amp-
ZNF821-
-
-
-
1Loss-
ZNF827-
-
-
-
1Loss-
ZNF843-
-
-
-
1Loss-
ZNF853-
-
-
-
1Loss-
ZNF862-
-
-
-
7Amp-
ZNF879-
-
-
-
1Loss-
ZNF92-
-
-
-
4GainZNF92--IFRD1
ZNHIT1-
-
-
-
5Amp-
ZNHIT2-
-
-
-
1Loss-
ZNHIT6-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
1Loss-
ZP1-
-
-
-
3Gain-
ZP2-
-
-
-
1Loss-
ZP3-
-
-
-
6Amp-
ZPBP-
-
-
-
1Loss-
ZPR1-
-
-
-
0Del-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
1Loss-
ZSCAN10-
-
-
-
1Loss-
ZSCAN21-
-
-
-
7Amp-
ZSCAN25-
-
-
-
7Amp-
ZSCAN30-
-
-
-
1Loss-
ZSCAN32-
-
-
-
1Loss-
ZSWIM6-
-
-
-
1Loss-
ZSWIM8-
-
-
-
1Loss-
ZW10-
-
-
-
0Del-
ZWINT-
-
-
-
1Loss-
ZYX-
-
-
-
7Amp-