PDMR-431354~103-R~VI3-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A4GALT-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AADAT-
-
-
-
3Gain-
AAGAB-
-
-
-
1Loss-
AARD-
-
-
-
6Amp-
AARS-
-
-
-
1Loss-
AARS2-
-
-
-
3Gain-
AASS-
-
-
-
3Gain-
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC10-
-
-
-
3Gain-
ABCC2-
-
-
-
1Loss-
ABCC8-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABCE1-
-
-
-
3Gain-
ABCF1-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABHD12-
-
-
-
3Gain-
ABHD12B-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD16A-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABHD18-
-
-
-
3Gain-
ABHD2-
-
-
-
1Loss-
ABHD3-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABL2-
-
-
-
3Gain-
ABLIM2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABRA-
-
-
-
6Amp-
ABRAXAS2-
-
-
-
1Loss-
ABT1-
-
-
-
3Gain-
ABTB2-
-
-
-
1Loss-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC004832.3-
-
-
-
1Loss-
AC004922.1-
-
-
-
3Gain-
AC004997.1-
-
-
-
1Loss-
AC005020.2-
-
-
-
3Gain-
AC005520.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC007326.4-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009119.2-
-
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-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC009879.2-
-
-
-
6Amp-
AC009879.3-
-
-
-
6Amp-
AC010255.3-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011330.3-
-
-
-
1Loss-
AC012184.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
6Amp-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC018709.1-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022400.6-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
6Amp-
AC025287.4-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC036214.3-
-
-
-
6Amp-
AC037459.1-
-
-
-
0Del-
AC040162.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC068580.4-
-
-
-
1Loss-
AC068831.7-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC069368.1-
-
-
-
1Loss-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC087632.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090004.1-
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-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091167.2-
-
-
-
1Loss-
AC091167.6-
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-
-
1Loss-
AC091167.7-
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-
1Loss-
AC091551.1-
-
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-
1Loss-
AC091959.3-
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-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093323.1-
-
-
-
1Loss-
AC093668.1-
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-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC096887.1-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
3Gain-
AC098650.1-
-
-
-
1Loss-
AC100868.1-
-
-
-
6Amp-
AC104109.3-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107871.1-
-
-
-
1Loss-
AC107959.5-
-
-
-
0Del-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
5Amp-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC126283.2-
-
-
-
3Gain-
AC134980.3-
-
-
-
1Loss-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC142391.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
AC245033.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACAD8-
-
-
-
3Gain-
ACADM-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACAN-
-
-
-
1Loss-
ACAP3-
-
-
-
1Loss-
ACBD6-
-
-
-
3Gain-
ACD-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACO2-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT13-
-
-
-
3Gain-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
4Gain-
ACOX2-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACR-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSL1-
-
-
-
3Gain-
ACSL6-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACTA2-
-
-
-
1Loss-
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTL10-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTN1-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR8-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACYP1-
-
-
-
1Loss-
ADA-
-
-
-
6Amp-
ADA2-
-
-
-
1Loss-
ADAD1-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM18-
-
-
-
3Gain-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
3Gain-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM22-
-
-
-
3Gain-
ADAM28-
-
-
-
0Del-
ADAM29-
-
-
-
3Gain-
ADAM32-
-
-
-
3Gain-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
0Del-
ADAM8-
-
-
-
1Loss-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
0Del-
ADAMTS12-
-
-
-
1Loss-
ADAMTS14-
-
-
-
1Loss-
ADAMTS15-
-
-
-
3Gain-
ADAMTS16-
-
-
-
1Loss-
ADAMTS17-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTS8-
-
-
-
3Gain-
ADAMTSL3-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY2-
-
-
-
1Loss-
ADCY8-
-
-
-
6Amp-
ADD1-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRF1-
-
-
-
3Gain-
ADGRF2-
-
-
-
3Gain-
ADGRF4-
-
-
-
3Gain-
ADGRF5-
-
-
-
3Gain-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADH1A-
-
-
-
3Gain-
ADH1B-
-
-
-
3Gain-
ADH1C-
-
-
-
3Gain-
ADH4-
-
-
-
3Gain-
ADH5-
-
-
-
3Gain-
ADH6-
-
-
-
3Gain-
ADH7-
-
-
-
3Gain-
ADHFE1-
-
-
-
6Amp-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADNP-
-
-
-
5Amp-
ADNP2-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADRA1A-
-
-
-
0Del-
ADRA1B-
-
-
-
1Loss-
ADRA1D-
-
-
-
3Gain-
ADRA2C-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSL-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
ADTRP-
-
-
-
3Gain-
AEN-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AGA-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL1-
-
-
-
1Loss-
AGBL2-
-
-
-
1Loss-
AGBL3-
-
-
-
3Gain-
AGER-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
3Gain-
AGMAT-
-
-
-
1Loss-
AGO2-
-
-
-
3Gain-
AGPAT1-
-
-
-
3Gain-
AGPAT5-
-
-
-
0Del-
AGRN-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AGTRAP-
-
-
-
1Loss-
AGXT2-
-
-
-
1LossAGXT2--CLPTM1L
AHCY-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHNAK2-
-
-
-
1Loss-
AHRR-
-
-
-
3Gain-
AHSA1-
-
-
-
1Loss-
AIF1-
-
-
-
3Gain-
AIFM2-
-
-
-
1Loss-
AIFM3-
-
-
-
1Loss-
AIMP1-
-
-
-
3Gain-
AJAP1-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AKAP13-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP9-
-
-
-
3Gain-
AKIP1-
-
-
-
1Loss-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
1Loss-
AKR7A2-
-
-
-
0Del-
AKR7A3-
-
-
-
0Del-
AKR7L-
-
-
-
0Del-
AKT1-
-
-
-
1Loss-
AL021997.3-
-
-
-
3Gain-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL024498.2-
-
-
-
3Gain-
AL031281.2-
-
-
-
0Del-
AL031777.3-
-
-
-
3Gain-
AL031847.2-
-
-
-
1Loss-
AL035078.4-
-
-
-
1Loss-
AL035460.1-
-
-
-
3Gain-
AL049629.2-
-
-
-
1Loss-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL080251.1-
-
-
-
0Del-
AL096814.1-
-
-
-
3Gain-
AL109811.4-
-
-
-
1Loss-
AL109827.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL121722.1-
-
-
-
4Gain-
AL121753.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL121900.2-
-
-
-
4Gain-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL136531.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
1Loss-
AL163195.3-
-
-
-
3Gain-
AL163636.2-
-
-
-
3Gain-
AL353588.1-
-
-
-
3Gain-
AL355102.2-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365205.1-
-
-
-
3Gain-
AL365273.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512428.1-
-
-
-
3Gain-
AL583836.1-
-
-
-
1Loss-
AL645922.1-
-
-
-
3Gain-
AL645941.2-
-
-
-
3Gain-
AL662884.4-
-
-
-
3Gain-
AL662899.1-
-
-
-
3Gain-
AL662899.2-
-
-
-
3Gain-
AL669918.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
1Loss-
ALDH4A1-
-
-
-
0Del-
ALDH5A1-
-
-
-
3Gain-
ALDH6A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALG12-
-
-
-
1Loss-
ALKAL1-
-
-
-
6Amp-
ALKBH1-
-
-
-
1Loss-
ALKBH4-
-
-
-
3Gain-
ALPK1-
-
-
-
3Gain-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
0Del-
ALS2CL-
-
-
-
1Loss-
AMACR-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
ANAPC1p.F1888C
Missense
SNP
0.242
2--
ANAPC10-
-
-
-
3Gain-
ANAPC16-
-
-
-
1Loss-
ANG-
-
-
-
3Gain-
ANGEL1-
-
-
-
1Loss-
ANGPT1-
-
-
-
6Amp-
ANGPT2-
-
-
-
0Del-
ANGPT4-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL7-
-
-
-
1Loss-
ANK1-
-
-
-
3Gain-
ANK2-
-
-
-
3Gain-
ANKDD1A-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKEF1-
-
-
-
3Gain-
ANKH-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD29-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD33B-
-
-
-
1Loss-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD37-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
6Amp-
ANKRD50-
-
-
-
3Gain-
ANKRD54-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD60-
-
-
-
10Amp-
ANKRD63-
-
-
-
1Loss-
ANKRD65-
-
-
-
1Loss-
ANKRD66-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
1Loss-
ANKS1A-
-
-
-
3Gain-
ANO10-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO9-
-
-
-
0Del-
ANP32A-
-
-
-
1Loss-
ANPEP-
-
-
-
1Loss-
ANXA10-
-
-
-
3Gain-
ANXA11-
-
-
-
1Loss-
ANXA13-
-
-
-
6Amp-
ANXA2-
-
-
-
1Loss-
ANXA2R-
-
-
-
1Loss-
ANXA5-
-
-
-
3Gain-
ANXA6-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
AOC1-
-
-
-
3Gain-
AP000350.4-
-
-
-
1Loss-
AP1AR-
-
-
-
3Gain-
AP1B1-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP2A2-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3M2p.Q203H
Missense
SNP
0.130
5Amp-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP4M1-
-
-
-
3Gain-
AP5M1-
-
-
-
1Loss-
AP5S1-
-
-
-
3Gain-
APBA2-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APCp.Q1303*
Nonsense
SNP
1.000
1Loss-
APCDD1L-
-
-
-
10Amp-
APEH-
-
-
-
1Loss-
APEX1-
-
-
-
3Gain-
APH1B-
-
-
-
1Loss-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLP2-
-
-
-
3Gain-
APMAP-
-
-
-
3Gain-
APOBEC2-
-
-
-
3Gain-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOM-
-
-
-
3Gain-
APOPT1-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
AREL1-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARF6-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGAP2-
-
-
-
1Loss-
ARFGAP3-
-
-
-
1Loss-
ARFGEF1-
-
-
-
6Amp-
ARFGEF2-
-
-
-
5Amp-
ARFIP1-
-
-
-
3Gain-
ARFIP2-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARG2-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
3Gain-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP21p.V366L
Missense
SNP
0.299
2--
ARHGAP23-
-
-
-
5Amp-
ARHGAP26-
-
-
-
1Loss-
ARHGAP32-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP8-
-
-
-
1Loss-
ARHGEF10-
-
-
-
0Del-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF38-
-
-
-
3Gain-
ARHGEF5-
-
-
-
3Gain-
ARID3B-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL14EP-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL5C-
-
-
-
5Amp-
ARL8B-
-
-
-
1Loss-
ARMC1-
-
-
-
6Amp-
ARMC10-
-
-
-
3Gain-
ARMC12-
-
-
-
3Gain-
ARMH2-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNT2-
-
-
-
1Loss-
ARNTL-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSJ-
-
-
-
3Gain-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARVCF-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH1-
-
-
-
0Del-
ASAP1-
-
-
-
6Amp-
ASB10-
-
-
-
3Gain-
ASB13-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB15-
-
-
-
3Gain-
ASB17-
-
-
-
1Loss-
ASB2-
-
-
-
1Loss-
ASB4-
-
-
-
3Gain-
ASB5-
-
-
-
3Gain-
ASB7-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASIC3-
-
-
-
3Gain-
ASIC5-
-
-
-
3Gain-
ASIP-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPG-
-
-
-
1Loss-
ASPH-
-
-
-
6Amp-
ASPHD2-
-
-
-
1Loss-
ASPM-
-
-
-
3Gain-
ASXL1-
-
-
-
3Gain-
ASXL3-
-
-
-
1Loss-
ASZ1-
-
-
-
3Gain-
ATAD1-
-
-
-
1Loss-
ATAD2-
-
-
-
6Amp-
ATAD3A-
-
-
-
1Loss-
ATAD3B-
-
-
-
1Loss-
ATAD3C-
-
-
-
1Loss-
ATAT1-
-
-
-
3Gain-
ATF4-
-
-
-
1Loss-
ATF6B-
-
-
-
3Gain-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG13-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATG9B-
-
-
-
3Gain-
ATL1-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATOH1-
-
-
-
3Gain-
ATOH8-
-
-
-
3Gain-
ATOX1-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP1B1-
-
-
-
3Gain-
ATP2B2-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1E-
-
-
-
21Amp-
ATP5MD-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MGL-
-
-
-
1Loss-
ATP5MPL-
-
-
-
1Loss-
ATP5S-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
6Amp-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
0Del-
ATP6V1C1-
-
-
-
6Amp-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G2-
-
-
-
3Gain-
ATP6V1G2-DDX39B-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP6V1H-
-
-
-
6Amp-
ATP8B1-
-
-
-
1Loss-
ATP8B4-
-
-
-
1Loss-
ATP9A-
-
-
-
5Amp-
ATP9B-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATXN1-
-
-
-
3Gain-
ATXN10-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7L1-
-
-
-
3Gain-
AURKA-
-
-
-
7Amp-
AURKAIP1-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AVEN-
-
-
-
1Loss-
AVP-
-
-
-
3Gain-
AVPI1-
-
-
-
1Loss-
AXDND1-
-
-
-
3Gain-
AZGP1-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
6Amp-
B2M-
-
-
-
1Loss-
B3GALT2-
-
-
-
3Gain-
B3GALT4-
-
-
-
3Gain-
B3GALT6-
-
-
-
1Loss-
B3GAT1-
-
-
-
3Gain-
B3GNT9-
-
-
-
1Loss-
B4GALNT4-
-
-
-
0Del-
B4GALT5-
-
-
-
5Amp-
B4GALT6-
-
-
-
1Loss-
BAALC-
-
-
-
6Amp-
BAG2-
-
-
-
3Gain-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAG6-
-
-
-
3Gain-
BAHD1-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
1Loss-
BAK1-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BANF2-
-
-
-
3Gain-
BANK1-
-
-
-
3Gain-
BANP-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARX2-
-
-
-
3Gain-
BASP1-
-
-
-
1Loss-
BATF-
-
-
-
1Loss-
BAZ1B-
-
-
-
3Gain-
BBOF1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS12-
-
-
-
3Gain-
BBS4-
-
-
-
1Loss-
BBS7-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAS1-
-
-
-
7Amp-
BCAS4p.E77Q
Missense
SNP
0.801
5Amp-
BCCIP-
-
-
-
1Loss-
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L10-
-
-
-
1Loss-
BCL2L13-
-
-
-
1Loss-
BCL7B-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BCR-
-
-
-
1Loss-
BDH2-
-
-
-
3Gain-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND6-
-
-
-
3Gain-
BET1-
-
-
-
3Gain-
BET1L-
-
-
-
0Del-
BFSP1-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BHLHE22-
-
-
-
6Amp-
BHLHE23-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICRAL-
-
-
-
3Gain-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN3-
-
-
-
0Del-
BIRC6-
-
-
-
2-BIRC6--TTC27
BIRC7-
-
-
-
3Gain-
BLK-
-
-
-
0Del-
BLM-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLOC1S5-
-
-
-
3Gain-
BLOC1S5-TXNDC5-
-
-
-
3Gain-
BLOC1S6-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
1Loss-
BMI1-
-
-
-
1Loss-
BMP1-
-
-
-
0Del-
BMP2-
-
-
-
3Gain-
BMP4-
-
-
-
1Loss-
BMP5-
-
-
-
3Gain-
BMP6-
-
-
-
3Gain-
BMP7-
-
-
-
7Amp-
BMPR1A-
-
-
-
1Loss-
BMPR1B-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC1-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BNIP3L-
-
-
-
0Del-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOP1-
-
-
-
3Gain-
BORA-
-
-
-
3Gain-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPHL-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1p.R63W
Missense
SNP
0.777
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPIFC-
-
-
-
1Loss-
BRAF-
-
-
-
3Gain-
BRD1-
-
-
-
1Loss-
BRD2-
-
-
-
3Gain-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRI3-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRIX1-
-
-
-
1Loss-
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRPF3-
-
-
-
3Gain-
BRSK2-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD3-
-
-
-
3Gain-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTBD9-
-
-
-
3Gain-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
3Gain-
BTN3A1-
-
-
-
3Gain-
BTN3A2-
-
-
-
3Gain-
BTN3A3-
-
-
-
3Gain-
BTNL2-
-
-
-
3Gain-
BTRC-
-
-
-
1Loss-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BYSL-
-
-
-
3Gain-
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
3Gain-
C11orf49-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C17orf98-
-
-
-
5Amp-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf127-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf21-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1QTNF12-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
1Loss-
C1QTNF3-AMACR-
-
-
-
1Loss-
C1QTNF4-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C2-
-
-
-
3Gain-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
10Amp-
C20orf96-
-
-
-
3Gain-
C21orf58-
-
-
-
4Gain-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2orf68-
-
-
-
3Gain-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4orf17-
-
-
-
3Gain-
C4orf3-
-
-
-
3Gain-
C4orf33-
-
-
-
3Gain-
C4orf45-
-
-
-
3Gain-
C4orf46-
-
-
-
3Gain-
C4orf47-
-
-
-
3Gain-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
3Gain-
C4orf54-
-
-
-
3Gain-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
1Loss-
C5orf38-
-
-
-
1Loss-
C5orf46-
-
-
-
1Loss-
C5orf49-
-
-
-
1Loss-
C5orf51-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6-
-
-
-
3Gain-
C6orf10-
-
-
-
3Gain-
C6orf106-
-
-
-
3Gain-
C6orf132-
-
-
-
3Gain-
C6orf136-
-
-
-
3Gain-
C6orf141-
-
-
-
3Gain-
C6orf15-
-
-
-
3Gain-
C6orf201-
-
-
-
3Gain-
C6orf222-
-
-
-
3Gain-
C6orf223-
-
-
-
3Gain-
C6orf226-
-
-
-
3Gain-
C6orf47-
-
-
-
3Gain-
C6orf48-
-
-
-
3Gain-
C6orf52-
-
-
-
3Gain-
C6orf62-
-
-
-
3Gain-
C6orf89-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
6Amp-
C8orf37-
-
-
-
6Amp-
C8orf44-
-
-
-
6Amp-
C8orf48-
-
-
-
0Del-
C8orf58-
-
-
-
0Del-
C8orf59-
-
-
-
6Amp-
C8orf74-
-
-
-
0Del-
C8orf76-
-
-
-
6Amp-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
3Gain-
C8orf88-
-
-
-
6Amp-
C8orf89-
-
-
-
6Amp-
C9-
-
-
-
1Loss-
CA1-
-
-
-
6Amp-
CA12-
-
-
-
1Loss-
CA13-
-
-
-
6Amp-
CA2-
-
-
-
6Amp-
CA3-
-
-
-
6Amp-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CA8-
-
-
-
6Amp-
CABIN1-
-
-
-
1Loss-
CABLES1-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CABP7-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1E-
-
-
-
3Gain-
CACNA1I-
-
-
-
1Loss-
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB1-
-
-
-
5Amp-
CACNG2-
-
-
-
1Loss-
CADPS2-
-
-
-
3Gain-
CAGE1-
-
-
-
3Gain-
CALB1-
-
-
-
6Amp-
CALB2-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML4-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK2A-
-
-
-
1Loss-
CAMK2D-
-
-
-
3Gain-
CAMK2G-
-
-
-
1Loss-
CAMK2N1-
-
-
-
0Del-
CAMK4-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CAMTA1-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CAP2-
-
-
-
3Gain-
CAPN11-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CAPZB-
-
-
-
0Del-
CARD10-
-
-
-
1Loss-
CARD6-
-
-
-
3Gain-
CARMIL1-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASP3-
-
-
-
3Gain-
CASP6-
-
-
-
3Gain-
CASP9-
-
-
-
1Loss-
CASS4-
-
-
-
7Amp-
CAST-
-
-
-
1Loss-
CASTOR1-
-
-
-
1Loss-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CASZ1-
-
-
-
1Loss-
CAT-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3-
-
-
-
1Loss-
CAVIN3-
-
-
-
1Loss-
CBFA2T2-
-
-
-
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN4-
-
-
-
7Amp-
CBR4-
-
-
-
3Gain-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR2-
-
-
-
0Del-
CCBE1-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC110-
-
-
-
3Gain-
CCDC112-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC127-
-
-
-
3Gain-
CCDC13-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC152-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC167-
-
-
-
3Gain-
CCDC174-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC188-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC25-
-
-
-
0Del-
CCDC27-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC73-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCDC9B-
-
-
-
1Loss-
CCHCR1-
-
-
-
3Gain-
CCK-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL28-
-
-
-
1Loss-
CCM2L-
-
-
-
3Gain-
CCNA2-
-
-
-
3Gain-
CCNB1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
3Gain-
CCNB2-
-
-
-
1Loss-
CCND3-
-
-
-
3Gain-
CCNDBP1-
-
-
-
1Loss-
CCNE2-
-
-
-
6Amp-
CCNG1-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNL2-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCNY-
-
-
-
1Loss-
CCPG1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT5-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD247-
-
-
-
3Gain-
CD276-
-
-
-
1Loss-
CD2AP-
-
-
-
3Gain-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD40-
-
-
-
4Gain-
CD44-
-
-
-
1Loss-
CD59-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD81-
-
-
-
1Loss-
CD83-
-
-
-
3Gain-
CD8A-
-
-
-
3Gain-
CD8B-
-
-
-
3Gain-
CD93-
-
-
-
3Gain-
CDA-
-
-
-
0Del-
CDAN1-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC25C-
-
-
-
1Loss-
CDC42-
-
-
-
0Del-
CDC42BPB-
-
-
-
1Loss-
CDC42EP1-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDC5L-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
0Del-
CDCA4-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDH1-
-
-
-
1Loss-
CDH10-
-
-
-
1Loss-
CDH11-
-
-
-
1Loss-
CDH12-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH17-
-
-
-
6Amp-
CDH18p.R652W
Missense
SNP
1.000
1Loss-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
4Gain-
CDH23-
-
-
-
1Loss-
CDH26-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH4-
-
-
-
3Gain-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
1Loss-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDH9-
-
-
-
1Loss-
CDHR3-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
0Del-
CDK10-
-
-
-
1Loss-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK12-
-
-
-
5Amp-
CDK14-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDKAL1-
-
-
-
3Gain-
CDKL1-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1A-
-
-
-
3Gain-
CDKN1C-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
3Gain-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDSN-
-
-
-
3Gain-
CDT1-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDYL-
-
-
-
3Gain-
CDYL2-
-
-
-
1Loss-
CEBPB-
-
-
-
5Amp-
CEBPD-
-
-
-
6Amp-
CECR2-
-
-
-
1Loss-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
0Del-
CELA3B-
-
-
-
0Del-
CELF1-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPB-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPE-
-
-
-
3Gain-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPL-
-
-
-
3Gain-
CENPM-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPQ-
-
-
-
3Gain-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPU-
-
-
-
3Gain-
CEP104-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CEP250-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP44-
-
-
-
3Gain-
CEP55-
-
-
-
1Loss-
CEP72-
-
-
-
3Gain-
CERK-
-
-
-
1Loss-
CERKLp.F346L
Missense
SNP
0.237
2--
CERS3-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP161-
-
-
-
1Loss-
CFAP20-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP46-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP58-
-
-
-
1Loss-
CFAP61-
-
-
-
4Gain-
CFAP69-
-
-
-
3Gain-
CFAP70-
-
-
-
1Loss-
CFAP74-
-
-
-
1Loss-
CFAP97-
-
-
-
3Gain-
CFAP99-
-
-
-
1Loss-
CFB-
-
-
-
3Gain-
CFDP1-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFI-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CGRRF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
1Loss-
CHCHD7-
-
-
-
6Amp-
CHD1-
-
-
-
1Loss-
CHD2-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD7-
-
-
-
6Amp-
CHDH-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHGA-
-
-
-
1Loss-
CHGB-
-
-
-
3Gain-
CHID1-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP1A-
-
-
-
1Loss-
CHMP3-
-
-
-
3Gain-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
6Amp-
CHMP7-
-
-
-
0Del-
CHP1-
-
-
-
1Loss-
CHPF2-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRM4-
-
-
-
1Loss-
CHRM5-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
0Del-
CHRNA3-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA5-
-
-
-
1Loss-
CHRNA6-
-
-
-
5Amp-
CHRNA7-
-
-
-
1Loss-
CHRNB3-
-
-
-
5Amp-
CHRNB4-
-
-
-
1Loss-
CHST14-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHSY1-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIAO2A-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIB1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CILP-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CISD2-
-
-
-
3Gain-
CISD3-
-
-
-
5Amp-
CISH-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCN3-
-
-
-
3Gain-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN22-
-
-
-
3Gain-
CLDN23-
-
-
-
0Del-
CLDN24-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN5-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLGN-
-
-
-
3Gain-
CLIC1-
-
-
-
3Gain-
CLIC5-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLIP2-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLN6-
-
-
-
1Loss-
CLN8-
-
-
-
0Del-
CLNK-
-
-
-
1Loss-
CLPS-
-
-
-
3Gain-
CLPSL1-
-
-
-
3Gain-
CLPSL2-
-
-
-
3Gain-
CLPTM1L-
-
-
-
3GainAGXT2--CLPTM1L
CLPX-
-
-
-
1Loss-
CLRN3-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLTCL1-
-
-
-
1Loss-
CLU-
-
-
-
0Del-
CLVS1-
-
-
-
6Amp-
CMBL-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMTR1-
-
-
-
3Gain-
CMTR2-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNBD1-
-
-
-
6Amp-
CNBD2-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA3p.R499Q
Missense
SNP
0.396
2--
CNGA4-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNGB3-
-
-
-
6Amp-
CNIH1-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT7-
-
-
-
0Del-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY3-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNTN4-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP2-
-
-
-
3Gain-
CNTNAP4-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG8-
-
-
-
1Loss-
COL11A2-
-
-
-
3Gain-
COL13A1-
-
-
-
1Loss-
COL14A1-
-
-
-
6Amp-
COL17A1-
-
-
-
1Loss-
COL18A1-
-
-
-
4Gain-
COL1A2-
-
-
-
3Gain-
COL20A1-
-
-
-
3Gain-
COL21A1-
-
-
-
3Gain-
COL22A1-
-
-
-
3Gain-
COL25A1-
-
-
-
3Gain-
COL26A1-
-
-
-
3Gain-
COL4A3BP-
-
-
-
1Loss-
COL6A1-
-
-
-
4Gain-
COL6A2-
-
-
-
4Gain-
COL7A1-
-
-
-
1Loss-
COL9A3-
-
-
-
3Gain-
COLEC10-
-
-
-
6Amp-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD4-
-
-
-
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COMMD9-
-
-
-
1Loss-
COMT-
-
-
-
1Loss-
COMTD1-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COPS5-
-
-
-
6Amp-
COPS6-
-
-
-
3Gain-
COQ6-
-
-
-
1Loss-
COQ8A-
-
-
-
2-WASH3P--COQ8A
COQ9-
-
-
-
1Loss-
CORO2B-
-
-
-
1Loss-
CORT-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX16p.S73F
Missense
SNP
0.227
1Loss-
COX4I1-
-
-
-
1Loss-
COX4I2-
-
-
-
3Gain-
COX5A-
-
-
-
1Loss-
COX6C-
-
-
-
6Amp-
COX7C-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
6Amp-
CPE-
-
-
-
3Gain-
CPEB1-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
3Gain-
CPLANE2-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE1-
-
-
-
3Gain-
CPNE2-
-
-
-
1Loss-
CPNE3-
-
-
-
6Amp-
CPNE5-
-
-
-
3Gain-
CPNE7-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPQ-
-
-
-
6Amp-
CPS1p.M775R
Missense
SNP
0.333
2--
CPSF1-
-
-
-
3Gain-
CPSF2-
-
-
-
1Loss-
CPSF4-
-
-
-
3Gain-
CPT1B-
-
-
-
1Loss-
CPTP-
-
-
-
1Loss-
CPXM1-
-
-
-
3Gain-
CPXM2-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CRABP1-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRB1-
-
-
-
3Gain-
CRBN-
-
-
-
1Loss-
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CREM-
-
-
-
1Loss-
CRH-
-
-
-
6Amp-
CRHBP-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRIP3-
-
-
-
3Gain-
CRISP1-
-
-
-
3Gain-
CRISP2-
-
-
-
3Gain-
CRISP3-
-
-
-
3Gain-
CRISPLD1-
-
-
-
6Amp-
CRISPLD2-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLS1-
-
-
-
3Gain-
CRMP1-
-
-
-
1Loss-
CRNKL1-
-
-
-
4Gain-
CROCC-
-
-
-
1Loss-
CROT-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC3-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYGN-
-
-
-
3Gain-
CRYZ-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSE1L-
-
-
-
5Amp-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
0Del-
CSK-
-
-
-
1Loss-
CSMD1-
-
-
-
0Del-
CSMD3-
-
-
-
6Amp-
CSNK1A1-
-
-
-
1Loss-
CSNK1E-
-
-
-
1Loss-
CSNK1G1-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSNK2A2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSNK2B-
-
-
-
3Gain-
CSPG4-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
6Amp-
CSRNP1-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTF1-
-
-
-
7Amp-
CSTF3-
-
-
-
1Loss-
CSTL1-
-
-
-
3Gain-
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
1Loss-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTBP1-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTCFL-
-
-
-
10Amp-
CTDP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTHRC1-
-
-
-
6Amp-
CTIF-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTNND2-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSA-
-
-
-
4Gain-
CTSB-
-
-
-
0Del-
CTSD-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSO-
-
-
-
3Gain-
CTSZ-
-
-
-
21Amp-
CTTNBP2-
-
-
-
3Gain-
CTU2-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUEDC2-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL2-
-
-
-
1Loss-
CUL7-
-
-
-
3Gain-
CUL9-
-
-
-
3Gain-
CUTA-
-
-
-
3Gain-
CUTC-
-
-
-
1Loss-
CUX1-
-
-
-
3Gain-
CUZD1-
-
-
-
1Loss-
CWC25-
-
-
-
5Amp-
CWC27-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CX3CL1-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
3Gain-
CXXC5-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYFIP1-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYHR1-
-
-
-
3Gain-
CYP11A1-
-
-
-
1Loss-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP17A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP24A1-
-
-
-
7Amp-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2U1-
-
-
-
3Gain-
CYP39A1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP46A1-
-
-
-
1Loss-
CYP4V2-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
6Amp-
CYP7B1-
-
-
-
6Amp-
CYP8B1-
-
-
-
1Loss-
CYREN-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH4-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
DAAM1-
-
-
-
1Loss-
DAAM2-
-
-
-
3Gain-
DAB2-
-
-
-
1Loss-
DACH1-
-
-
-
3Gain-
DACT1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAP-
-
-
-
1Loss-
DAPK2-
-
-
-
1Loss-
DAPP1-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DAXX-
-
-
-
3Gain-
DAZL-
-
-
-
1Loss-
DBF4-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNDD2-
-
-
-
4Gain-
DBX1-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF13-
-
-
-
6Amp-
DCAF4-
-
-
-
1Loss-
DCAF4L2-
-
-
-
6Amp-
DCAF5-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCANP1-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCDC1p.T392K
Missense
SNP
0.698
1Loss-
DCDC2-
-
-
-
3Gain-
DCHS1-
-
-
-
1Loss-
DCHS2-
-
-
-
3Gain-
DCLK2-
-
-
-
3Gain-
DCLK3-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCSTAMP-
-
-
-
6Amp-
DCTD-
-
-
-
3Gain-
DCTN4-
-
-
-
1Loss-
DCTN6-
-
-
-
0Del-
DDAH2-
-
-
-
3Gain-
DDB2-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDI2-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDIT4L-
-
-
-
3Gain-
DDOST-
-
-
-
0Del-
DDR1-
-
-
-
3Gain-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX27-
-
-
-
5Amp-
DDX28-
-
-
-
1Loss-
DDX39B-
-
-
-
3Gain-
DDX4-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX52-
-
-
-
5Amp-
DDX59-
-
-
-
3Gain-
DDX60-
-
-
-
3Gain-
DDX60L-
-
-
-
3Gain-
DEAF1-
-
-
-
0Del-
DECR1-
-
-
-
6Amp-
DEF6-
-
-
-
3Gain-
DEF8-
-
-
-
1Loss-
DEFA4-
-
-
-
0Del-
DEFA5-
-
-
-
0Del-
DEFA6-
-
-
-
0Del-
DEFB1-
-
-
-
0Del-
DEFB103A-
-
-
-
0Del-
DEFB103B-
-
-
-
0Del-
DEFB104A-
-
-
-
0Del-
DEFB104B-
-
-
-
0Del-
DEFB105A-
-
-
-
0Del-
DEFB105B-
-
-
-
0Del-
DEFB106A-
-
-
-
0Del-
DEFB106B-
-
-
-
0Del-
DEFB107A-
-
-
-
0Del-
DEFB107B-
-
-
-
0Del-
DEFB110-
-
-
-
3Gain-
DEFB112-
-
-
-
3Gain-
DEFB113-
-
-
-
3Gain-
DEFB114-
-
-
-
3Gain-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB133-
-
-
-
3Gain-
DEFB134-
-
-
-
0Del-
DEFB135-
-
-
-
0Del-
DEFB136-
-
-
-
0Del-
DEFB4A-
-
-
-
0Del-
DEFB4B-
-
-
-
0Del-
DEGS2-
-
-
-
1Loss-
DEK-
-
-
-
3Gain-
DELE1-
-
-
-
1Loss-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
1Loss-
DENND5A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DEPTOR-
-
-
-
6Amp-
DERL1-
-
-
-
6Amp-
DERL3-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DET1-
-
-
-
1Loss-
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKI-
-
-
-
3Gain-
DGKQ-
-
-
-
1Loss-
DGKZ-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHRS3-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHX16-
-
-
-
3Gain-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DHX9-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
3Gain-
DICER1-
-
-
-
1Loss-
DIDO1-
-
-
-
3Gain-
DIMT1-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2A-
-
-
-
4Gain-
DIS3L-
-
-
-
1Loss-
DISP1p.H165D
Missense
SNP
0.495
2--
DISP2-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DKK1-
-
-
-
1Loss-
DKK2-
-
-
-
3Gain-
DKK3-
-
-
-
1Loss-
DKK4-
-
-
-
5Amp-
DLC1-
-
-
-
0Del-
DLD-
-
-
-
3Gain-
DLEC1-
-
-
-
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP2-
-
-
-
0Del-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLK2-
-
-
-
3Gain-
DLL4-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMC1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMTN-
-
-
-
0Del-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH5-
-
-
-
1Loss-
DNAH8-
-
-
-
3Gain-
DNAI2-
-
-
-
3Gain-
DNAJA4-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB14-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC11-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC2-
-
-
-
3Gain-
DNAJC21-
-
-
-
1Loss-
DNAJC24-
-
-
-
1Loss-
DNAJC30-
-
-
-
3Gain-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
6Amp-
DNAJC9-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMBP-
-
-
-
1Loss-
DNMT3B-
-
-
-
3Gain-
DNPH1-
-
-
-
3Gain-
DNTT-
-
-
-
1Loss-
DNTTIP1-
-
-
-
4Gain-
DOCK1-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK4p.R114Q
Missense
SNP
0.227
3Gain-
DOCK5-
-
-
-
0Del-
DOCK9p.S1666R
Missense
SNP
0.995
2--
DOK2-
-
-
-
0Del-
DOK4-
-
-
-
1Loss-
DOK5-
-
-
-
7Amp-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPM1-
-
-
-
5Amp-
DPP6-
-
-
-
3Gain-
DPP8-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPY19L4-
-
-
-
6Amp-
DPYS-
-
-
-
6Amp-
DPYSL2-
-
-
-
0Del-
DPYSL3-
-
-
-
1Loss-
DPYSL4-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRD4-
-
-
-
0Del-
DRD5-
-
-
-
1Loss-
DRG1-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DROSHA-
-
-
-
1Loss-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCC1-
-
-
-
6Amp-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSP-
-
-
-
3Gain-
DST-
-
-
-
3Gain-
DSTN-
-
-
-
3Gain-
DTD1-
-
-
-
4Gain-
DTNA-
-
-
-
1Loss-
DTNBP1-
-
-
-
3Gain-
DTWD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
3Gain-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUPD1-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP13-
-
-
-
1Loss-
DUSP15-
-
-
-
3Gain-
DUSP18-
-
-
-
1Loss-
DUSP22-
-
-
-
3Gain-
DUSP26-
-
-
-
3Gain-
DUSP4-
-
-
-
0Del-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
DXO-
-
-
-
3Gain-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNLRB1-
-
-
-
3Gain-
DYNLRB2-
-
-
-
1Loss-
DZANK1-
-
-
-
3Gain-
E2F1-
-
-
-
3Gain-
E2F3-
-
-
-
3Gain-
E2F4-
-
-
-
1Loss-
E2F5-
-
-
-
6Amp-
E2F8-
-
-
-
1Loss-
EAF1-
-
-
-
1Loss-
EBAG9-
-
-
-
6Amp-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
0Del-
EBF3-
-
-
-
1Loss-
EBF4-
-
-
-
3Gain-
EBLN1-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
ECE1-
-
-
-
0Del-
ECHS1-
-
-
-
1Loss-
ECI2-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECSITp.V173M
Missense
SNP
0.368
2--
EDC3-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EDDM3A-
-
-
-
3Gain-
EDDM3B-
-
-
-
3Gain-
EDEM1-
-
-
-
1Loss-
EDEM2-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EDIL3-
-
-
-
1Loss-
EDN1-
-
-
-
3Gain-
EDN3-
-
-
-
1Loss-
EDNRA-
-
-
-
3Gain-
EDRF1-
-
-
-
1Loss-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
1Loss-
EEF1D-
-
-
-
3Gain-
EEF1E1-
-
-
-
3Gain-
EEF1E1-BLOC1S5-
-
-
-
3Gain-
EFCAB1-
-
-
-
6Amp-
EFCAB10-
-
-
-
3Gain-
EFCAB11-
-
-
-
1Loss-
EFCAB6-
-
-
-
1Loss-
EFCAB8-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFHC1-
-
-
-
3Gain-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
1Loss-
EFNA5-
-
-
-
1Loss-
EFR3A-
-
-
-
6Amp-
EGF-
-
-
-
3Gain-
EGFL8-
-
-
-
3Gain-
EGFLAM-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EGR3-
-
-
-
0Del-
EHD4-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EHMT2-
-
-
-
3Gain-
EID1-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2AK4-
-
-
-
1Loss-
EIF2B2-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF2S2-
-
-
-
3Gain-
EIF3D-
-
-
-
1Loss-
EIF3E-
-
-
-
6Amp-
EIF3F-
-
-
-
1Loss-
EIF3H-
-
-
-
6Amp-
EIF3J-
-
-
-
1Loss-
EIF3L-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4E-
-
-
-
3Gain-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF4G3-
-
-
-
0Del-
EIF4H-
-
-
-
3Gain-
EIF5-
-
-
-
1Loss-
EIF5AL1-
-
-
-
1Loss-
EIF6-
-
-
-
3Gain-
ELAC1-
-
-
-
1Loss-
ELF2-
-
-
-
3Gain-
ELF5-
-
-
-
1Loss-
ELFN2-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMO2-
-
-
-
4Gain-
ELMO3-
-
-
-
1Loss-
ELMOD2-
-
-
-
3Gain-
ELMSAN1-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOA2-
-
-
-
1Loss-
ELOC-
-
-
-
6Amp-
ELOVL2-
-
-
-
3Gain-
ELOVL3-
-
-
-
1Loss-
ELOVL5-
-
-
-
3Gain-
ELOVL6-
-
-
-
3Gain-
ELOVL7-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP3-
-
-
-
0Del-
ELP4-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC1-
-
-
-
0Del-
EMC2-
-
-
-
6Amp-
EMC3-
-
-
-
1Loss-
EMC4-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMCN-
-
-
-
3Gain-
EMID1-
-
-
-
1Loss-
EML1-
-
-
-
1Loss-
EML5-
-
-
-
1Loss-
EN2-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENO1-
-
-
-
1Loss-
ENPEP-
-
-
-
3Gain-
ENPP2-
-
-
-
6Amp-
ENPP4-
-
-
-
3Gain-
ENPP5-
-
-
-
3Gain-
ENPP6-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
0Del-
ENTPD5-
-
-
-
1Loss-
ENTPD6-
-
-
-
3Gain-
ENTPD7-
-
-
-
1Loss-
ENY2-
-
-
-
6Amp-
EOMES-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB42-
-
-
-
1Loss-
EPC1-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA1-
-
-
-
3Gain-
EPHA2-
-
-
-
1Loss-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX2-
-
-
-
0Del-
EPM2AIP1-
-
-
-
1Loss-
EPO-
-
-
-
3Gain-
EPOP-
-
-
-
5Amp-
EPPIN-
-
-
-
4Gain-
EPPIN-WFDC6-
-
-
-
4Gain-
EPPK1-
-
-
-
3Gain-
EPS8L2-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB2-
-
-
-
5Amp-
ERBIN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERH-
-
-
-
1Loss-
ERI1-
-
-
-
0Del-
ERICH1-
-
-
-
0Del-
ERICH3-
-
-
-
1Loss-
ERICH5-
-
-
-
6Amp-
ERLIN1-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERRFI1-
-
-
-
1Loss-
ERV3-1-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
3Gain-
ESCO1-
-
-
-
1Loss-
ESCO2-
-
-
-
0Del-
ESF1-
-
-
-
3Gain-
ESM1-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESR2-
-
-
-
1Loss-
ESRP1-
-
-
-
6Amp-
ESRP2-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESS2-
-
-
-
1Loss-
ESYT2-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETFDH-
-
-
-
3Gain-
ETNK2p.R302W
Missense
SNP
0.158
2--
ETNPPL-
-
-
-
3Gain-
ETS1-
-
-
-
3Gain-
ETV7-
-
-
-
3Gain-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXOC2-
-
-
-
3Gain-
EXOC3-
-
-
-
3Gain-
EXOC3L1-
-
-
-
1Loss-
EXOC3L4-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC5-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC6-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXOSC9-
-
-
-
3Gain-
EXT1-
-
-
-
6Amp-
EXTL3-
-
-
-
0Del-
EYA1-
-
-
-
6Amp-
EYA2-
-
-
-
5Amp-
EZH2-
-
-
-
3Gain-
F11-
-
-
-
3Gain-
F13A1-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F2-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
FA2H-
-
-
-
1Loss-
FAAP20-
-
-
-
1Loss-
FABP12-
-
-
-
6Amp-
FABP2-
-
-
-
3Gain-
FABP4-
-
-
-
6Amp-
FABP5-
-
-
-
6Amp-
FABP6-
-
-
-
1Loss-
FABP9-
-
-
-
6Amp-
FAH-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
6Amp-
FAM114A2-
-
-
-
1Loss-
FAM118A-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM131C-
-
-
-
1Loss-
FAM133B-
-
-
-
3Gain-
FAM135B-
-
-
-
3Gain-
FAM13B-
-
-
-
1Loss-
FAM149A-
-
-
-
3Gain-
FAM149B1-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM160A1-
-
-
-
3Gain-
FAM160A2-
-
-
-
1Loss-
FAM160B2-
-
-
-
0Del-
FAM161B-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM167A-
-
-
-
0Del-
FAM169A-
-
-
-
1Loss-
FAM169B-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM173B-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM174B-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM180B-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM185A-
-
-
-
3Gain-
FAM189A1-
-
-
-
1Loss-
FAM192A-
-
-
-
1Loss-
FAM193A-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM198B-
-
-
-
3Gain-
FAM19A5-
-
-
-
1Loss-
FAM200A-
-
-
-
3Gain-
FAM205Ap.A709T
Missense
SNP
1.000
2--
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM209A-
-
-
-
7Amp-
FAM209B-
-
-
-
7Amp-
FAM20B-
-
-
-
3Gain-
FAM210B-
-
-
-
7Amp-
FAM214A-
-
-
-
1Loss-
FAM217A-
-
-
-
3Gain-
FAM217B-
-
-
-
1Loss-
FAM218A-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM227A-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM241A-
-
-
-
3Gain-
FAM241B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM3D-
-
-
-
1Loss-
FAM43B-
-
-
-
0Del-
FAM49B-
-
-
-
6Amp-
FAM50B-
-
-
-
3Gain-
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM81A-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83A-
-
-
-
6Amp-
FAM83B-
-
-
-
3Gain-
FAM83C-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
6Amp-
FAM8A1-
-
-
-
3Gain-
FAM91A1-
-
-
-
6Amp-
FAM92A-
-
-
-
6Amp-
FAM92B-
-
-
-
1Loss-
FAM98A-
-
-
-
5Amp-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCE-
-
-
-
3Gain-
FANCF-
-
-
-
1Loss-
FANCI-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FARS2-
-
-
-
3Gain-
FAS-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FASTKD3-
-
-
-
1Loss-
FASTKD5-
-
-
-
3Gain-
FAT1-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAT4-
-
-
-
3Gain-
FAXDC2-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBN1-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBXL13-
-
-
-
3Gain-
FBXL15-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL20-
-
-
-
5Amp-
FBXL22-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXL7-
-
-
-
1Loss-
FBXL8-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
0Del-
FBXO2-
-
-
-
1Loss-
FBXO22-
-
-
-
1Loss-
FBXO24-
-
-
-
3Gain-
FBXO25-
-
-
-
0Del-
FBXO3-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO32-
-
-
-
6Amp-
FBXO34-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO4-
-
-
-
1Loss-
FBXO42-
-
-
-
1Loss-
FBXO43-
-
-
-
6Amp-
FBXO44-
-
-
-
1Loss-
FBXO47-
-
-
-
5Amp-
FBXO6-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXO8-
-
-
-
3Gain-
FBXO9-
-
-
-
3Gain-
FBXW12-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW7-
-
-
-
3Gain-
FCF1-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FDFT1-
-
-
-
0Del-
FECH-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FER1L6-
-
-
-
6Amp-
FERMT1-
-
-
-
3Gain-
FERMT2-
-
-
-
1Loss-
FES-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FFAR4-
-
-
-
1Loss-
FGA-
-
-
-
3Gain-
FGB-
-
-
-
3Gain-
FGD2-
-
-
-
3Gain-
FGD5-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
1Loss-
FGF17-
-
-
-
0Del-
FGF18-
-
-
-
1Loss-
FGF2-
-
-
-
3Gain-
FGF20-
-
-
-
0Del-
FGF7-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR1-
-
-
-
3Gain-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
3Gain-
FGL1-
-
-
-
0Del-
FGL2-
-
-
-
3Gain-
FHAD1-
-
-
-
1Loss-
FHDC1-
-
-
-
3Gain-
FHIT-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIBIN-
-
-
-
1Loss-
FIS1-
-
-
-
3Gain-
FITM2-
-
-
-
10Amp-
FJX1-
-
-
-
1Loss-
FKBP1A-
-
-
-
3Gain-
FKBP5-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBPL-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
3Gain-
FLNB-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
3Gain-
FLRT3-
-
-
-
3Gain-
FLT3p.T227M
Missense
SNP
1.000
2--
FLVCR2-
-
-
-
1Loss-
FMC1-
-
-
-
3Gain-
FMN1-
-
-
-
1Loss-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC10-
-
-
-
1Loss-
FNDC11-
-
-
-
3Gain-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNIP2-
-
-
-
3Gain-
FNTA-
-
-
-
5Amp-
FNTB-
-
-
-
1Loss-
FO393400.1-
-
-
-
3Gain-
FOLH1-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOXA2-
-
-
-
4Gain-
FOXB1-
-
-
-
1Loss-
FOXC1-
-
-
-
3Gain-
FOXC2-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXF2-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
FOXI1-
-
-
-
1Loss-
FOXI2-
-
-
-
1Loss-
FOXL1-
-
-
-
1Loss-
FOXN3-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FOXP4-
-
-
-
3Gain-
FOXQ1-
-
-
-
3Gain-
FOXRED2-
-
-
-
1Loss-
FOXS1-
-
-
-
3Gain-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FRA10AC1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM3-
-
-
-
3Gain-
FRG1-
-
-
-
3Gain-
FRG2-
-
-
-
3Gain-
FRG2B-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRMD6-
-
-
-
1Loss-
FRS3-
-
-
-
3Gain-
FSBP-
-
-
-
6Amp-
FSCN3-
-
-
-
3Gain-
FSD2-
-
-
-
1Loss-
FSHB-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FST-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FSTL5-
-
-
-
3Gain-
FTCD-
-
-
-
4Gain-
FTMT-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUT10-
-
-
-
3Gain-
FUT11-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FYB1-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FZD1-
-
-
-
3Gain-
FZD3-
-
-
-
0Del-
FZD6-
-
-
-
6Amp-
FZD8-
-
-
-
1Loss-
FZD9-
-
-
-
3Gain-
G3BP1-
-
-
-
1Loss-
GAB1-
-
-
-
3Gain-
GAB4-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABBR1-
-
-
-
3Gain-
GABPB1-
-
-
-
1Loss-
GABRA1-
-
-
-
1Loss-
GABRA5-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRD-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GAL3ST4-
-
-
-
3Gain-
GALC-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALMp.V127I
Missense
SNP
0.277
2--
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT15-
-
-
-
1Loss-
GALNT16-
-
-
-
1Loss-
GALNT17-
-
-
-
3Gain-
GALNT18-
-
-
-
1Loss-
GALNT7-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GALNTL6-
-
-
-
3Gain-
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAR1-
-
-
-
3Gain-
GAREM1-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA4-
-
-
-
0Del-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
1Loss-
GATAD1-
-
-
-
3Gain-
GATB-
-
-
-
3Gain-
GATD1-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBGT1p.F147L
Missense
SNP
0.385
2--
GBX1-
-
-
-
3Gain-
GCAT-
-
-
-
1Loss-
GCC1-
-
-
-
3Gain-
GCH1-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCLC-
-
-
-
3Gain-
GCM1-
-
-
-
3Gain-
GCM2-
-
-
-
3Gain-
GCNT2-
-
-
-
3Gain-
GCNT3-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCNT7-
-
-
-
7Amp-
GCOM1-
-
-
-
1Loss-
GCSH-
-
-
-
1Loss-
GDAP1-
-
-
-
6Amp-
GDAP1L1-
-
-
-
10Amp-
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
6Amp-
GDF9-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPGP1-
-
-
-
1Loss-
GEM-
-
-
-
6Amp-
GEMIN5-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFOD1-
-
-
-
3Gain-
GFOD2-
-
-
-
1Loss-
GFRA2-
-
-
-
0Del-
GFRA3-
-
-
-
1Loss-
GFRA4-
-
-
-
3Gain-
GFRAL-
-
-
-
3Gain-
GGA1-
-
-
-
1Loss-
GGCX-
-
-
-
3Gain-
GGH-
-
-
-
6Amp-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GGTLC2-
-
-
-
1Loss-
GHR-
-
-
-
1Loss-
GHRL-
-
-
-
1Loss-
GID8-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIMD1-
-
-
-
3Gain-
GIN1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GINS4-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GK3P-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L2-
-
-
-
3Gain-
GLB1L3-
-
-
-
3Gain-
GLCE-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI4-
-
-
-
3Gain-
GLO1-
-
-
-
3Gain-
GLP1R-
-
-
-
3Gain-
GLRA1-
-
-
-
1Loss-
GLRA3-
-
-
-
3Gain-
GLRB-
-
-
-
3Gain-
GLRX-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLRX3-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GLYATL3-
-
-
-
3Gain-
GLYCTK-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMDS-
-
-
-
3Gain-
GMEB2-
-
-
-
3Gain-
GMFB-
-
-
-
1Loss-
GML-
-
-
-
3Gain-
GMNN-
-
-
-
3Gain-
GMPPB-
-
-
-
1Loss-
GMPR-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAS-
-
-
-
21Amp-
GNAT1-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
1Loss-
GNB1-
-
-
-
1Loss-
GNB1L-
-
-
-
1Loss-
GNB2-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNG11-
-
-
-
3Gain-
GNG2-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNL1-
-
-
-
3Gain-
GNL3-
-
-
-
1Loss-
GNLY-
-
-
-
3Gain-
GNMT-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNPNAT1-
-
-
-
1Loss-
GNRH1-
-
-
-
0Del-
GNRH2-
-
-
-
3Gain-
GOLGA4-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA7-
-
-
-
3Gain-
GOLGA7B-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLPH3-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GORAB-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GOT1-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GPAA1-
-
-
-
3Gain-
GPANK1-
-
-
-
3Gain-
GPAT4-
-
-
-
3Gain-
GPATCH2L-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPC2-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPCPD1-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPIHBP1-
-
-
-
3Gain-
GPLD1-
-
-
-
3Gain-
GPM6A-
-
-
-
3Gain-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137C-
-
-
-
1Loss-
GPR142-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR179-
-
-
-
5Amp-
GPR20-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR26-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR62-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPRC5C-
-
-
-
3Gain-
GPSM3-
-
-
-
3Gain-
GPT-
-
-
-
3Gain-
GPX1-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX5-
-
-
-
3Gain-
GPX6-
-
-
-
3Gain-
GPX8-
-
-
-
1Loss-
GRAMD2A-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRB7-
-
-
-
5Amp-
GREB1L-
-
-
-
1Loss-
GREM1-
-
-
-
1Loss-
GRHL2-
-
-
-
6Amp-
GRIA1-
-
-
-
1Loss-
GRIA2-
-
-
-
3Gain-
GRID1-
-
-
-
1Loss-
GRID2-
-
-
-
3Gain-
GRINA-
-
-
-
3Gain-
GRIP2-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM4-
-
-
-
3Gain-
GRM7-
-
-
-
1Loss-
GRM8-
-
-
-
3Gain-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSC-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDMA-
-
-
-
5Amp-
GSDMB-
-
-
-
5Amp-
GSDMC-
-
-
-
6Amp-
GSDMD-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSG2p.F607L
Missense
SNP
0.355
NDND-
GSKIP-
-
-
-
1Loss-
GSR-
-
-
-
0Del-
GSS-
-
-
-
3Gain-
GSTA1-
-
-
-
3Gain-
GSTA2-
-
-
-
3Gain-
GSTA3-
-
-
-
3Gain-
GSTA4-
-
-
-
3Gain-
GSTA5-
-
-
-
3Gain-
GSTCD-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2A2-
-
-
-
1Loss-
GTF2E2-
-
-
-
0Del-
GTF2H1-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H4-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTPBP1-
-
-
-
1Loss-
GTPBP10-
-
-
-
3Gain-
GTPBP2-
-
-
-
3Gain-
GTSE1-
-
-
-
1Loss-
GUCA1A-
-
-
-
3Gain-
GUCA1B-
-
-
-
3Gain-
GUCD1-
-
-
-
1Loss-
GUCY1A1-
-
-
-
3Gain-
GUCY1B1-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GYPA-
-
-
-
3Gain-
GYPB-
-
-
-
3Gain-
GYPE-
-
-
-
3Gain-
GZF1-
-
-
-
3Gain-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H2AFZ-
-
-
-
3Gain-
H6PD-
-
-
-
1Loss-
HACD3-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HADH-
-
-
-
3Gain-
HAND1-
-
-
-
1Loss-
HAND2-
-
-
-
3Gain-
HAO1-
-
-
-
3Gain-
HAPLN1-
-
-
-
1Loss-
HAPLN3-
-
-
-
1Loss-
HARBI1-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS1p.R216C
Missense
SNP
0.253
2--
HAS2-
-
-
-
6Amp-
HAS3-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HCK-
-
-
-
3Gain-
HCN1-
-
-
-
1Loss-
HCN4-
-
-
-
1Loss-
HCRTR2-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDC-
-
-
-
1Loss-
HDDC3-
-
-
-
1Loss-
HDGFL1-
-
-
-
3Gain-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD3p.F60L
Missense
SNP
1.000
2--
HDHD5-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HELLS-
-
-
-
1Loss-
HELT-
-
-
-
3Gain-
HELZ2-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HERC1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXA-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEY1-
-
-
-
6Amp-
HFE-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HGFAC-
-
-
-
1Loss-
HGH1-
-
-
-
3Gain-
HGSNAT-
-
-
-
5Amp-
HHATL-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHIP-
-
-
-
3Gain-
HHIPL1-
-
-
-
1Loss-
HHLA1-
-
-
-
6Amp-
HIC2-
-
-
-
1Loss-
HIF1A-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HIP1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIPK3-
-
-
-
1Loss-
HIRA-
-
-
-
1Loss-
HIST1H1A-
-
-
-
3Gain-
HIST1H1B-
-
-
-
3Gain-
HIST1H1C-
-
-
-
3Gain-
HIST1H1D-
-
-
-
3Gain-
HIST1H1E-
-
-
-
3Gain-
HIST1H1T-
-
-
-
3Gain-
HIST1H2AA-
-
-
-
3Gain-
HIST1H2AB-
-
-
-
3Gain-
HIST1H2AC-
-
-
-
3Gain-
HIST1H2AD-
-
-
-
3Gain-
HIST1H2AE-
-
-
-
3Gain-
HIST1H2AG-
-
-
-
3Gain-
HIST1H2AH-
-
-
-
3Gain-
HIST1H2AI-
-
-
-
3Gain-
HIST1H2AJ-
-
-
-
3Gain-
HIST1H2AK-
-
-
-
3Gain-
HIST1H2AL-
-
-
-
3Gain-
HIST1H2AM-
-
-
-
3Gain-
HIST1H2BA-
-
-
-
3Gain-
HIST1H2BB-
-
-
-
3Gain-
HIST1H2BC-
-
-
-
3Gain-
HIST1H2BD-
-
-
-
3Gain-
HIST1H2BE-
-
-
-
3Gain-
HIST1H2BF-
-
-
-
3Gain-
HIST1H2BG-
-
-
-
3Gain-
HIST1H2BH-
-
-
-
3Gain-
HIST1H2BI-
-
-
-
3Gain-
HIST1H2BJ-
-
-
-
3Gain-
HIST1H2BK-
-
-
-
3Gain-
HIST1H2BL-
-
-
-
3Gain-
HIST1H2BM-
-
-
-
3Gain-
HIST1H2BN-
-
-
-
3Gain-
HIST1H2BO-
-
-
-
3Gain-
HIST1H3A-
-
-
-
3Gain-
HIST1H3B-
-
-
-
3Gain-
HIST1H3C-
-
-
-
3Gain-
HIST1H3D-
-
-
-
3Gain-
HIST1H3E-
-
-
-
3Gain-
HIST1H3F-
-
-
-
3Gain-
HIST1H3G-
-
-
-
3Gain-
HIST1H3H-
-
-
-
3Gain-
HIST1H3I-
-
-
-
3Gain-
HIST1H3J-
-
-
-
3Gain-
HIST1H4A-
-
-
-
3Gain-
HIST1H4B-
-
-
-
3Gain-
HIST1H4C-
-
-
-
3Gain-
HIST1H4D-
-
-
-
3Gain-
HIST1H4E-
-
-
-
3Gain-
HIST1H4F-
-
-
-
3Gain-
HIST1H4G-
-
-
-
3Gain-
HIST1H4H-
-
-
-
3Gain-
HIST1H4I-
-
-
-
3Gain-
HIST1H4J-
-
-
-
3Gain-
HIST1H4K-
-
-
-
3Gain-
HIST1H4L-
-
-
-
3Gain-
HIVEP1-
-
-
-
3Gain-
HK1-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HLA-A-
-
-
-
3Gain-
HLA-B-
-
-
-
3Gain-
HLA-C-
-
-
-
3Gain-
HLA-DMAp.W217*
Nonsense
SNP
0.380
3Gain-
HLA-DMB-
-
-
-
3Gain-
HLA-DOA-
-
-
-
3Gain-
HLA-DOB-
-
-
-
3Gain-
HLA-DPA1-
-
-
-
3Gain-
HLA-DPB1-
-
-
-
3Gain-
HLA-DQA1-
-
-
-
3Gain-
HLA-DQA2-
-
-
-
3Gain-
HLA-DQB1-
-
-
-
3Gain-
HLA-DQB2-
-
-
-
3Gain-
HLA-DRA-
-
-
-
3Gain-
HLA-DRB1-
-
-
-
3Gain-
HLA-DRB5-
-
-
-
3Gain-
HLA-E-
-
-
-
3Gain-
HLA-F-
-
-
-
3Gain-
HLA-G-
-
-
-
3Gain-
HM13-
-
-
-
3Gain-
HMBOX1-
-
-
-
0Del-
HMCN1-
-
-
-
3Gain-
HMG20A-
-
-
-
1Loss-
HMGA1-
-
-
-
3Gain-
HMGB2-
-
-
-
3Gain-
HMGCLL1-
-
-
-
3Gain-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
1Loss-
HMGN4-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1B-
-
-
-
5Amp-
HNF4A-
-
-
-
10Amp-
HNF4G-
-
-
-
6Amp-
HNRNPA0-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOOK3-
-
-
-
5Amp-
HORMAD2-
-
-
-
1Loss-
HP-
-
-
-
1Loss-
HP1BP3-
-
-
-
0Del-
HPF1-
-
-
-
3Gain-
HPGD-
-
-
-
3Gain-
HPGDS-
-
-
-
3Gain-
HPR-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS4-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
0Del-
HRAS-
-
-
-
0Del-
HRH1-
-
-
-
1Loss-
HRH3-
-
-
-
3Gain-
HRH4-
-
-
-
1Loss-
HS3ST1-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD17B8-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSF1-
-
-
-
3Gain-
HSF4-
-
-
-
1Loss-
HSP90AA1-
-
-
-
1Loss-
HSP90AB1-
-
-
-
3Gain-
HSPA12B-
-
-
-
3Gain-
HSPA1A-
-
-
-
3Gain-
HSPA1B-
-
-
-
3Gain-
HSPA1L-
-
-
-
3Gain-
HSPA2-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA4L-
-
-
-
3Gain-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB3-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPG2-
-
-
-
0Del-
HTATIP2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HTR6-
-
-
-
0Del-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTRA4-
-
-
-
3Gain-
HTT-
-
-
-
1Loss-
HUS1B-
-
-
-
3Gain-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYAL4-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
HYKK-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
ICE1-
-
-
-
1Loss-
ICE2-
-
-
-
1Loss-
ICK-
-
-
-
3Gain-
ICMT-
-
-
-
1Loss-
ID1-
-
-
-
3Gain-
ID4-
-
-
-
3Gain-
IDE-
-
-
-
1Loss-
IDH2-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDH3B-
-
-
-
3Gain-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IDUA-
-
-
-
1Loss-
IER3-
-
-
-
3Gain-
IER3IP1-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFFO2-
-
-
-
0Del-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
0Del-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
0Del-
IFITM3-
-
-
-
0Del-
IFITM5-
-
-
-
0Del-
IFRD1-
-
-
-
3Gain-
IFRD2-
-
-
-
1Loss-
IFT22-
-
-
-
3Gain-
IFT27-
-
-
-
1Loss-
IFT43-
-
-
-
1Loss-
IGDCC3-
-
-
-
1Loss-
IGDCC4-
-
-
-
1Loss-
IGF1R-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF22-
-
-
-
1Loss-
IGSF9B-
-
-
-
3Gain-
IK-
-
-
-
1Loss-
IKBKB-
-
-
-
5Amp-
IKZF3-
-
-
-
5Amp-
IKZF5-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL15-
-
-
-
3Gain-
IL16-
-
-
-
1Loss-
IL17A-
-
-
-
3Gain-
IL17B-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17F-
-
-
-
3Gain-
IL17RA-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL2-
-
-
-
3Gain-
IL21-
-
-
-
3Gain-
IL2RB-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6ST-
-
-
-
1Loss-
IL7-
-
-
-
6Amp-
IL7R-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILK-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMMP2L-
-
-
-
3Gain-
IMMT-
-
-
-
3Gain-
IMP3-
-
-
-
1Loss-
IMPA1-
-
-
-
6Amp-
IMPACT-
-
-
-
1Loss-
IMPAD1-
-
-
-
6Amp-
IMPDH1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
INA-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
ING2-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INO80-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INPP4B-
-
-
-
3Gain-
INPP5A-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSIG1-
-
-
-
3Gain-
INSM1-
-
-
-
4Gain-
INSYN1-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS10-
-
-
-
0Del-
INTS11-
-
-
-
1Loss-
INTS12-
-
-
-
3Gain-
INTS14-
-
-
-
1Loss-
INTS8-
-
-
-
6Amp-
INTS9-
-
-
-
0Del-
INTU-
-
-
-
3Gain-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IP6K3-
-
-
-
3Gain-
IPO11-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCH-
-
-
-
1Loss-
IQGAP1-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQSEC1-
-
-
-
1Loss-
IQUB-
-
-
-
3Gain-
IRAK2-
-
-
-
1Loss-
IREB2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2-
-
-
-
3Gain-
IRF2BPL-
-
-
-
1Loss-
IRF4-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF7-
-
-
-
0Del-
IRF8-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRX1-
-
-
-
1Loss-
IRX2-
-
-
-
1Loss-
IRX4-
-
-
-
1Loss-
ISCA2-
-
-
-
1Loss-
ISG15-
-
-
-
1Loss-
ISG20-
-
-
-
1Loss-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ISM2-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
IST1-
-
-
-
1Loss-
ISX-
-
-
-
1Loss-
ITCH-
-
-
-
3Gain-
ITGA1-
-
-
-
1Loss-
ITGA11-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITPA-
-
-
-
3Gain-
ITPK1-
-
-
-
1Loss-
ITPKA-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPR3-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
IVD-
-
-
-
1Loss-
IVNS1ABP-
-
-
-
3Gain-
JADE1-
-
-
-
3Gain-
JADE2-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAG2-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JAM3-
-
-
-
3Gain-
JARID2-
-
-
-
3Gain-
JCAD-
-
-
-
1Loss-
JDP2-
-
-
-
1Loss-
JKAMP-
-
-
-
1Loss-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JPH1-
-
-
-
6Amp-
JPH2-
-
-
-
10Amp-
JPH3-
-
-
-
1Loss-
JRK-
-
-
-
3Gain-
KAAG1-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KAT14-
-
-
-
3Gain-
KAT2B-
-
-
-
1Loss-
KAT6A-
-
-
-
3Gain-
KAT6B-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD11-
-
-
-
0Del-
KBTBD11-OT1-
-
-
-
0Del-
KBTBD13-
-
-
-
1Loss-
KBTBD4-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNB1-
-
-
-
5Amp-
KCNB2-
-
-
-
6Amp-
KCNC1-
-
-
-
1Loss-
KCNC4p.R188P
Missense
SNP
0.455
2--
KCND2-
-
-
-
3Gain-
KCNG1-
-
-
-
5Amp-
KCNG2-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH2-
-
-
-
3Gain-
KCNH5-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNJ1-
-
-
-
3Gain-
KCNJ11-
-
-
-
1Loss-
KCNJ4-
-
-
-
1Loss-
KCNJ5-
-
-
-
3Gain-
KCNK10-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK15-
-
-
-
6Amp-
KCNK16-
-
-
-
3Gain-
KCNK17-
-
-
-
3Gain-
KCNK5-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMA1-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNN2p.T238M
Missense
SNP
0.645
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ3-
-
-
-
6Amp-
KCNS1-
-
-
-
6Amp-
KCNS2p.T385K
Missense
SNP
0.283
6Amp-
KCNT2-
-
-
-
3Gain-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
6Amp-
KCP-
-
-
-
3Gain-
KCTD1-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD20-
-
-
-
3Gain-
KCTD6-
-
-
-
1Loss-
KCTD7-
-
-
-
3Gain-
KCTD9-
-
-
-
0Del-
KDELR3-
-
-
-
1Loss-
KDM1B-
-
-
-
3Gain-
KDM3A-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KEL-
-
-
-
3Gain-
KHDRBS3-
-
-
-
6Amp-
KIAA0232-
-
-
-
1Loss-
KIAA0319-
-
-
-
3Gain-
KIAA0513-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA0930-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1109-
-
-
-
3Gain-
KIAA1143-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1328-
-
-
-
1Loss-
KIAA1462p.E245A
Missense
SNP
0.475
NDND-
KIAA1549-
-
-
-
3Gain-
KIAA1549L-
-
-
-
1Loss-
KIAA1586-
-
-
-
3Gain-
KIAA1614-
-
-
-
3Gain-
KIAA1671p.S1750I
Missense
SNP
0.429
1Loss-
KIAA2013-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF13A-
-
-
-
3Gain-
KIF13B-
-
-
-
0Del-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF17-
-
-
-
0Del-
KIF18A-
-
-
-
1Loss-
KIF19-
-
-
-
3Gain-
KIF1B-
-
-
-
1Loss-
KIF1BP-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF23-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF3B-
-
-
-
3Gain-
KIF4B-
-
-
-
1Loss-
KIF5B-
-
-
-
1Loss-
KIF6-
-
-
-
3Gain-
KIF7-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFAP3-
-
-
-
3Gain-
KIFC1-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
KIFC3-
-
-
-
1Loss-
KIZ-
-
-
-
4Gain-
KLC1-
-
-
-
1Loss-
KLC4-
-
-
-
3Gain-
KLF10-
-
-
-
6Amp-
KLF13-
-
-
-
1Loss-
KLF14-
-
-
-
3Gain-
KLF6-
-
-
-
1Loss-
KLHDC1-
-
-
-
1Loss-
KLHDC10-
-
-
-
3Gain-
KLHDC2-
-
-
-
1Loss-
KLHDC3-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL1-
-
-
-
3Gain-
KLHL14-
-
-
-
1Loss-
KLHL17-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL2-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL21-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL25-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL31-
-
-
-
3Gain-
KLHL33-
-
-
-
3Gain-
KLHL36-
-
-
-
1Loss-
KLHL38-
-
-
-
6Amp-
KLHL40-
-
-
-
1Loss-
KLKB1-
-
-
-
3Gain-
KLLN-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KNDC1-
-
-
-
1Loss-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KPNA7-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRBOX1-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRIT1-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KTN1-
-
-
-
1Loss-
L2HGDH-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL2-
-
-
-
1Loss-
LACTB-
-
-
-
1Loss-
LACTB2-
-
-
-
6Amp-
LAMA2p.A1604V
Missense
SNP
0.752
2--
LAMA3-
-
-
-
1Loss-
LAMA5-
-
-
-
3Gain-
LAMB1-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP5-
-
-
-
3Gain-
LAMTOR3-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LAPTM4B-
-
-
-
6Amp-
LARGE1-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP1B-
-
-
-
3Gain-
LARP6-
-
-
-
1Loss-
LARP7-
-
-
-
3Gain-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LASP1-
-
-
-
5Amp-
LAT2-
-
-
-
3Gain-
LBX1-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCMT2-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LCTL-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHAL6B-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD2-
-
-
-
0Del-
LDLRAD3-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEF1-
-
-
-
3Gain-
LEMD2-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
0Del-
LETM1-
-
-
-
1Loss-
LETM2-
-
-
-
3Gain-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGI3-
-
-
-
0Del-
LGMN-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LHFPL4-
-
-
-
1Loss-
LHFPL5-
-
-
-
3Gain-
LHPP-
-
-
-
1Loss-
LHX4-
-
-
-
3Gain-
LHX8-
-
-
-
1Loss-
LHX9-
-
-
-
3Gain-
LIF-
-
-
-
1Loss-
LIFR-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIME1-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIMK2-
-
-
-
1Loss-
LIMS2p.R51H
Missense
SNP
0.301
2--
LIN52-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LINC02203-
-
-
-
1Loss-
LINGO1-
-
-
-
1Loss-
LINS1-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPC-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LKAAEAR1-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LMAN1p.I370M
Missense
SNP
0.624
1Loss-
LMAN1L-
-
-
-
1Loss-
LMBR1-
-
-
-
3Gain-
LMBRD2-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMNB1-
-
-
-
1Loss-
LMNTD2-
-
-
-
0Del-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LONRF1-
-
-
-
0Del-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
1Loss-
LOXL2-
-
-
-
0Del-
LOXL4-
-
-
-
1Loss-
LPCAT1-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPL-
-
-
-
0Del-
LRAT-
-
-
-
3Gain-
LRBA-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRFN2-
-
-
-
3Gain-
LRGUK-
-
-
-
3Gain-
LRIT3-
-
-
-
3Gain-
LRMDA-
-
-
-
1Loss-
LRP12-
-
-
-
6Amp-
LRP2BP-
-
-
-
3Gain-
LRP4-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRR1-
-
-
-
1Loss-
LRRC1-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRC14B-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC2-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC27-
-
-
-
1Loss-
LRRC28-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC38-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC3C-
-
-
-
5Amp-
LRRC4-
-
-
-
3Gain-
LRRC47-
-
-
-
1Loss-
LRRC49-
-
-
-
1Loss-
LRRC53-
-
-
-
1Loss-
LRRC56-
-
-
-
0Del-
LRRC57-
-
-
-
1Loss-
LRRC6-
-
-
-
6Amp-
LRRC61-
-
-
-
3Gain-
LRRC69-
-
-
-
6Amp-
LRRC70-
-
-
-
1Loss-
LRRC73-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC74B-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LRRCC1-
-
-
-
6Amp-
LRRD1-
-
-
-
3Gain-
LRRFIP2-
-
-
-
1Loss-
LRRK1-
-
-
-
1Loss-
LRRN1-
-
-
-
1Loss-
LRRN3-
-
-
-
3Gain-
LRRN4-
-
-
-
3Gain-
LRRTM2-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LRWD1-
-
-
-
3Gain-
LSM1-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LSM14B-
-
-
-
3Gain-
LSM2-
-
-
-
3Gain-
LSM3-
-
-
-
1Loss-
LSM6-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSMEM2-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSS-
-
-
-
4Gain-
LST1-
-
-
-
3Gain-
LTA-
-
-
-
3Gain-
LTB-
-
-
-
3Gain-
LTBP2-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LUZP2-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6G5B-
-
-
-
3Gain-
LY6G5C-
-
-
-
3Gain-
LY6G6C-
-
-
-
3Gain-
LY6G6D-
-
-
-
3Gain-
LY6G6E-
-
-
-
3Gain-
LY6G6F-
-
-
-
3Gain-
LY6G6F-LY6G6D-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY86-
-
-
-
3Gain-
LY96-
-
-
-
6Amp-
LYAR-
-
-
-
1Loss-
LYN-
-
-
-
6Amp-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
6Amp-
LYRM4-
-
-
-
3Gain-
LYRM7-
-
-
-
1Loss-
LYSMD2-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
1Loss-
LYVE1-
-
-
-
1Loss-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZIC-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
LZTS1-
-
-
-
0Del-
LZTS2-
-
-
-
1Loss-
LZTS3-
-
-
-
3Gain-
MAB21L2-
-
-
-
3Gain-
MACROD2-
-
-
-
3Gain-
MAD2L1-
-
-
-
3Gain-
MAD2L1BP-
-
-
-
3Gain-
MAD2L2-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAF-
-
-
-
1Loss-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFF-
-
-
-
1Loss-
MAGEB6P1p.L287H
Missense
SNP
0.668
NDND-
MAGEL2-
-
-
-
1Loss-
MAGI2-
-
-
-
3Gain-
MAK-
-
-
-
3Gain-
MAK16-
-
-
-
3Gain-
MAL2-
-
-
-
6Amp-
MALT1-
-
-
-
1Loss-
MAML3-
-
-
-
3Gain-
MAN2A1-
-
-
-
1Loss-
MAN2A2-
-
-
-
1Loss-
MAN2B2-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANBA-
-
-
-
3Gain-
MANF-
-
-
-
1Loss-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAP2K1-
-
-
-
1Loss-
MAP2K5-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K8-
-
-
-
1Loss-
MAP3K9-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K5-
-
-
-
1Loss-
MAP9-
-
-
-
3Gain-
MAPK1-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK13-
-
-
-
3Gain-
MAPK14-
-
-
-
3Gain-
MAPK15-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE1-
-
-
-
3Gain-
MAPRE2-
-
-
-
1Loss-
MARC2p.A16P
Missense
SNP
0.531
2--
MARCH1-
-
-
-
3Gain-
MARCH11-
-
-
-
1Loss-
MARCH3-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
1Loss-
MARK3-
-
-
-
1Loss-
MARVELD1-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAS1L-
-
-
-
3Gain-
MASP2-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MAT1A-
-
-
-
1Loss-
MAT2A-
-
-
-
3Gain-
MAT2B-
-
-
-
1Loss-
MATN2-
-
-
-
6Amp-
MATN4-
-
-
-
6Amp-
MATR3-
-
-
-
1Loss-
MAVS-
-
-
-
3Gain-
MAX-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBL2-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBLAC2-
-
-
-
1Loss-
MBOAT1-
-
-
-
3Gain-
MBOAT4-
-
-
-
0Del-
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC3R-
-
-
-
7Amp-
MC4R-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCCD1-
-
-
-
3Gain-
MCHR1-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCM3-
-
-
-
3Gain-
MCM3AP-
-
-
-
4Gain-
MCM4-
-
-
-
6Amp-
MCM5-
-
-
-
1Loss-
MCM7-
-
-
-
3Gain-
MCM8-
-
-
-
3Gain-
MCMDC2-
-
-
-
6Amp-
MCPH1-
-
-
-
0Del-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MCTS2P-
-
-
-
3Gain-
MCU-
-
-
-
1Loss-
MCUB-
-
-
-
3Gain-
MCUR1-
-
-
-
3Gain-
MDC1-
-
-
-
3Gain-
MDFI-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDGA1-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDK-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MEA1-
-
-
-
3Gain-
MED1-
-
-
-
5Amp-
MED10-
-
-
-
1Loss-
MED15-
-
-
-
1Loss-
MED20-
-
-
-
3Gain-
MED30-
-
-
-
6Amp-
MED6-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEF2A-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEGF6-
-
-
-
1Loss-
MEI1-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MEP1A-
-
-
-
3Gain-
MEP1B-
-
-
-
1Loss-
MEPCE-
-
-
-
3Gain-
MESD-
-
-
-
1Loss-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1-
-
-
-
3Gain-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL14-
-
-
-
3Gain-
METTL15-
-
-
-
1Loss-
METTL17-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL6-
-
-
-
1Loss-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP3L-
-
-
-
3Gain-
MFGE8-
-
-
-
1Loss-
MFHAS1-
-
-
-
0Del-
MFN2-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD3-
-
-
-
3Gain-
MFSD8-
-
-
-
3Gain-
MGA-
-
-
-
1Loss-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGARP-
-
-
-
3Gain-
MGAT2-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGAT4D-
-
-
-
3Gain-
MGME1-
-
-
-
3Gain-
MGMT-
-
-
-
1Loss-
MGST2-
-
-
-
3Gain-
MIB1-
-
-
-
1Loss-
MIB2-
-
-
-
1Loss-
MICA-
-
-
-
3Gain-
MICAL2-
-
-
-
1Loss-
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICB-
-
-
-
3Gain-
MICU1-
-
-
-
1Loss-
MICU3-
-
-
-
0Del-
MIEF1-
-
-
-
1Loss-
MIEN1-
-
-
-
5Amp-
MIER3-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MINDY2-
-
-
-
1Loss-
MINOS1-
-
-
-
0Del-
MINOS1-NBL1-
-
-
-
0Del-
MINPP1-
-
-
-
1Loss-
MIOX-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKRN3-
-
-
-
1Loss-
MLC1-
-
-
-
1Loss-
MLH1-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLIP-
-
-
-
3Gain-
MLKL-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLLT6-
-
-
-
5Amp-
MLN-
-
-
-
3Gain-
MLXIPL-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMAA-
-
-
-
3Gain-
MMEL1-
-
-
-
1Loss-
MMP11-
-
-
-
1Loss-
MMP15-
-
-
-
1Loss-
MMP16-
-
-
-
6Amp-
MMP21-
-
-
-
1Loss-
MMP23B-
-
-
-
1Loss-
MMP24-
-
-
-
3Gain-
MMP26-
-
-
-
1Loss-
MMP9-
-
-
-
4Gain-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MND1-
-
-
-
3Gain-
MNS1-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOAP1-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOCS1-
-
-
-
3Gain-
MOCS2-
-
-
-
1Loss-
MOCS3-
-
-
-
5Amp-
MOG-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MOK-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MORC2-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MORN1-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MOS-
-
-
-
6Amp-
MOSPD3-
-
-
-
3Gain-
MOV10L1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPHOSPH6-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPIG6B-
-
-
-
3Gain-
MPP5-
-
-
-
1Loss-
MPPED1-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGBP-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH2B-
-
-
-
3Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL13-
-
-
-
6Amp-
MRPL14-
-
-
-
3Gain-
MRPL15-
-
-
-
6Amp-
MRPL17-
-
-
-
1Loss-
MRPL2-
-
-
-
3Gain-
MRPL20-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL35-
-
-
-
3Gain-
MRPL36-
-
-
-
1Loss-
MRPL40-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL45-
-
-
-
5Amp-
MRPL46-
-
-
-
1Loss-
MRPS10-
-
-
-
3Gain-
MRPS11-
-
-
-
1Loss-
MRPS16-
-
-
-
1Loss-
MRPS18A-
-
-
-
3Gain-
MRPS18B-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS26-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS28-
-
-
-
6Amp-
MRPS30-
-
-
-
1Loss-
MRPS33-
-
-
-
3Gain-
MRPS36-
-
-
-
1Loss-
MRS2-
-
-
-
3Gain-
MRTFA-
-
-
-
1Loss-
MRTO4-
-
-
-
0Del-
MRVI1-
-
-
-
1Loss-
MSANTD1-
-
-
-
1Loss-
MSC-
-
-
-
6Amp-
MSH3-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSH5-
-
-
-
3Gain-
MSH5-SAPCD1-
-
-
-
3Gain-
MSMO1-
-
-
-
3Gain-
MSR1-
-
-
-
0Del-
MSRA-
-
-
-
0Del-
MSS51-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSX1-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTBP-
-
-
-
6Amp-
MTCH1-
-
-
-
3Gain-
MTCH2-
-
-
-
1Loss-
MTDH-
-
-
-
6Amp-
MTERF1-
-
-
-
3Gain-
MTERF3-
-
-
-
6Amp-
MTFMT-
-
-
-
1Loss-
MTFP1-
-
-
-
1Loss-
MTFR1-
-
-
-
6Amp-
MTG1-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTMR10-
-
-
-
1Loss-
MTMR12-
-
-
-
1Loss-
MTMR14-
-
-
-
1Loss-
MTMR3-
-
-
-
1Loss-
MTMR7-
-
-
-
0Del-
MTMR9-
-
-
-
0Del-
MTNR1A-
-
-
-
3Gain-
MTOR-
-
-
-
1Loss-
MTPAP-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTRR-
-
-
-
1Loss-
MTSS1-
-
-
-
6Amp-
MTSS1L-
-
-
-
1Loss-
MTTP-
-
-
-
3Gain-
MTUS1-
-
-
-
0Del-
MTX3-
-
-
-
1Loss-
MUC12-
-
-
-
3Gain-
MUC15-
-
-
-
1Loss-
MUC17-
-
-
-
3Gain-
MUC2-
-
-
-
1Loss-
MUC21-
-
-
-
3Gain-
MUC22-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUCL3-
-
-
-
3Gain-
MUL1-
-
-
-
0Del-
MUSTN1-
-
-
-
1Loss-
MUT-
-
-
-
3Gain-
MVD-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MXRA8-
-
-
-
1Loss-
MYBL1-
-
-
-
6Amp-
MYBPC3-
-
-
-
1Loss-
MYC-
-
-
-
6Amp-
MYD88-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYH7B-
-
-
-
3Gain-
MYH9-
-
-
-
1Loss-
MYL10-
-
-
-
3Gain-
MYL3-
-
-
-
1Loss-
MYL5-
-
-
-
1Loss-
MYLIP-
-
-
-
3Gain-
MYLK2-
-
-
-
3Gain-
MYLK4-
-
-
-
3Gain-
MYMX-
-
-
-
3Gain-
MYO10-
-
-
-
1Loss-
MYO18B-
-
-
-
1Loss-
MYO1E-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO9A-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM2-
-
-
-
0Del-
MYOT-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MYOZ2-
-
-
-
3Gain-
MYOZ3-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
MYZAP-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
MZT1-
-
-
-
3Gain-
NAA15-
-
-
-
3Gain-
NAA20-
-
-
-
4Gain-
NAA30-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NADK-
-
-
-
1Loss-
NADK2-
-
-
-
3Gain-
NAE1-
-
-
-
1Loss-
NAF1-
-
-
-
3Gain-
NAGA-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NANOGP8-
-
-
-
1Loss-
NANP-
-
-
-
3Gain-
NAP1L4-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
0Del-
NAT10-
-
-
-
1Loss-
NAT16-
-
-
-
3Gain-
NAT2-
-
-
-
0Del-
NAT8L-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBL1-
-
-
-
0Del-
NBN-
-
-
-
6Amp-
NBPF1-
-
-
-
1Loss-
NBPF3-
-
-
-
0Del-
NCALD-
-
-
-
6Amp-
NCAPD3-
-
-
-
3Gain-
NCAPG2-
-
-
-
3Gain-
NCAPH2-
-
-
-
1Loss-
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCOA2-
-
-
-
6Amp-
NCOA3-
-
-
-
5Amp-
NCOA5-
-
-
-
4Gain-
NCOA6-
-
-
-
3Gain-
NCR2-
-
-
-
3Gain-
NCR3-
-
-
-
3Gain-
NCR3LG1-
-
-
-
1Loss-
NCS1p.R151Q
Missense
SNP
1.000
2--
NDFIP1-
-
-
-
1Loss-
NDN-
-
-
-
1Loss-
NDNF-
-
-
-
3Gain-
NDRG1-
-
-
-
6Amp-
NDRG2-
-
-
-
3Gain-
NDRG4-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDST3-
-
-
-
3Gain-
NDST4-
-
-
-
3Gain-
NDUFA2-
-
-
-
1Loss-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
6Amp-
NDUFB1-
-
-
-
1Loss-
NDUFB2-
-
-
-
3Gain-
NDUFB8-
-
-
-
1Loss-
NDUFB9-
-
-
-
6Amp-
NDUFC1-
-
-
-
3Gain-
NDUFS3-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NDUFS6-
-
-
-
1Loss-
NEBL-
-
-
-
1Loss-
NECAB1-
-
-
-
6Amp-
NECAB2-
-
-
-
1Loss-
NECAB3-
-
-
-
3Gain-
NECAP2-
-
-
-
1Loss-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEDD9-
-
-
-
3Gain-
NEFH-
-
-
-
1Loss-
NEFL-
-
-
-
0Del-
NEFM-
-
-
-
0Del-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
0Del-
NEIL3-
-
-
-
3Gain-
NEK1-
-
-
-
3Gain-
NEK10-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK7p.N93D
Missense
SNP
0.456
3Gain-
NEK9-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NELFCD-
-
-
-
21Amp-
NELFE-
-
-
-
3Gain-
NELL1-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NEO1-
-
-
-
1Loss-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEU1-
-
-
-
3Gain-
NEURL1-
-
-
-
1Loss-
NEURL2-
-
-
-
4Gain-
NEUROD2-
-
-
-
5Amp-
NEUROG1-
-
-
-
1Loss-
NEUROG2-
-
-
-
3Gain-
NEUROG3-
-
-
-
1Loss-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
5Amp-
NFATC3-
-
-
-
1Loss-
NFE4-
-
-
-
3Gain-
NFKB1-
-
-
-
3Gain-
NFKB2-
-
-
-
1Loss-
NFKBIE-
-
-
-
3Gain-
NFKBIL1-
-
-
-
3Gain-
NFRKB-
-
-
-
3Gain-
NFS1-
-
-
-
3Gain-
NFYA-
-
-
-
3Gain-
NGB-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NGRN-
-
-
-
1Loss-
NHLRC1-
-
-
-
3Gain-
NICN1-
-
-
-
1Loss-
NID2-
-
-
-
1Loss-
NIM1K-
-
-
-
1Loss-
NIN-
-
-
-
1Loss-
NINL-
-
-
-
3Gain-
NIP7-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL2-
-
-
-
6Amp-
NIPAL4-
-
-
-
1Loss-
NIPBL-
-
-
-
3Gain-
NIPSNAP1-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NKAIN3-
-
-
-
6Amp-
NKAIN4-
-
-
-
3Gain-
NKAPL-
-
-
-
3Gain-
NKD2-
-
-
-
3Gain-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX1-1-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-2-
-
-
-
4Gain-
NKX2-3-
-
-
-
1Loss-
NKX2-4-
-
-
-
4Gain-
NKX2-6-
-
-
-
0Del-
NKX3-1-
-
-
-
0Del-
NKX3-2-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NKX6-3-
-
-
-
3Gain-
NLN-
-
-
-
1Loss-
NLRC5-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP6-
-
-
-
0Del-
NMB-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NMNAT1-
-
-
-
1Loss-
NMNAT2-
-
-
-
3Gain-
NMUR2-
-
-
-
1Loss-
NNT-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOC2L-
-
-
-
1Loss-
NOC3L-
-
-
-
1Loss-
NOCT-
-
-
-
3Gain-
NODAL-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL4L-
-
-
-
3Gain-
NOL7-
-
-
-
3Gain-
NOL9-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NOM1-
-
-
-
3Gain-
NOP10-
-
-
-
1Loss-
NOP14-
-
-
-
1Loss-
NOP56-
-
-
-
3Gain-
NOS3-
-
-
-
3Gain-
NOTCH4-
-
-
-
3Gain-
NOV-
-
-
-
6Amp-
NOX5-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPBWR1-
-
-
-
6Amp-
NPBWR2-
-
-
-
3Gain-
NPC1-
-
-
-
1Loss-
NPC2-
-
-
-
1Loss-
NPEPL1-
-
-
-
21Amp-
NPFFR1-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPIPB15-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
0Del-
NPM3-
-
-
-
1Loss-
NPNT-
-
-
-
3Gain-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPR3-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPTN-
-
-
-
1Loss-
NPTX2-
-
-
-
3Gain-
NPTXR-
-
-
-
1Loss-
NPY1R-
-
-
-
3Gain-
NPY2R-
-
-
-
3Gain-
NPY5R-
-
-
-
3Gain-
NQO1-
-
-
-
1Loss-
NQO2-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR2C2-
-
-
-
1Loss-
NR2E3-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR3C2-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRDE2-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
0Del-
NRG2-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRM-
-
-
-
3Gain-
NRN1-
-
-
-
3Gain-
NRN1L-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRSN1-
-
-
-
3Gain-
NRSN2-
-
-
-
3Gain-
NRXN3-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSF-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSG1-
-
-
-
1Loss-
NSMAF-
-
-
-
6Amp-
NSMCE2-
-
-
-
6Amp-
NSMCE3-
-
-
-
1Loss-
NSUN2-
-
-
-
1Loss-
NSUN5-
-
-
-
3Gain-
NT5C2-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NTM-
-
-
-
3Gain-
NTRK3-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUCB2-
-
-
-
1Loss-
NUDCD1-
-
-
-
6Amp-
NUDCD2-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT18-
-
-
-
0Del-
NUDT3-
-
-
-
3Gain-
NUDT6-
-
-
-
3Gain-
NUDT7-
-
-
-
1Loss-
NUGGC-
-
-
-
0Del-
NUMB-
-
-
-
1Loss-
NUP153-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP160-
-
-
-
1Loss-
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
1Loss-
NUP50-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NXT1-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OARD1-
-
-
-
3Gain-
OAT-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OC90-
-
-
-
6Amp-
OCA2-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
OCLN-
-
-
-
1Loss-
OCM2-
-
-
-
3Gain-
OCSTAMP-
-
-
-
4Gain-
ODF1-
-
-
-
6Amp-
ODF3-
-
-
-
0Del-
ODF3B-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OFD1p.V988L
Missense
SNP
0.243
NDND-
OGA-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OIP5-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2Ap.D554Y
Missense
SNP
0.189
2--
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
OPN1SW-
-
-
-
3Gain-
OPN4-
-
-
-
1Loss-
OPN5-
-
-
-
3Gain-
OPRK1-
-
-
-
6Amp-
OPRL1p.P213L
p.R348H
Missense
Missense
SNP
SNP
0.514
0.246
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10C1-
-
-
-
3Gain-
OR11A1-
-
-
-
3Gain-
OR11G2-
-
-
-
3Gain-
OR11H4-
-
-
-
3Gain-
OR11H6-
-
-
-
3Gain-
OR12D2-
-
-
-
3Gain-
OR12D3-
-
-
-
3Gain-
OR14J1-
-
-
-
3Gain-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2B6-
-
-
-
3Gain-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2H1-
-
-
-
3Gain-
OR2H2-
-
-
-
3Gain-
OR2J1-
-
-
-
3Gain-
OR2J2-
-
-
-
3Gain-
OR2J3-
-
-
-
3Gain-
OR2W1-
-
-
-
3Gain-
OR4A47-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4F15-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F5-
-
-
-
1Loss-
OR4F6-
-
-
-
1Loss-
OR4K1-
-
-
-
3Gain-
OR4K13-
-
-
-
3Gain-
OR4K14-
-
-
-
3Gain-
OR4K15-
-
-
-
3Gain-
OR4K17-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4L1-
-
-
-
3Gain-
OR4M1-
-
-
-
3Gain-
OR4M2-
-
-
-
1Loss-
OR4N2-
-
-
-
3Gain-
OR4N4-
-
-
-
1Loss-
OR4N5-
-
-
-
3Gain-
OR4Q2-
-
-
-
3Gain-
OR4Q3-
-
-
-
3Gain-
OR4S1-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5B17p.F207L
Missense
SNP
0.159
2--
OR5D16p.F73L
Missense
SNP
0.470
2--
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5V1-
-
-
-
3Gain-
OR6A2-
-
-
-
1Loss-
OR6B1-
-
-
-
3Gain-
OR6S1-
-
-
-
3Gain-
OR6V1-
-
-
-
3Gain-
OR8G1p.I225T
Missense
SNP
0.504
2--
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORMDL3-
-
-
-
5Amp-
OSBP2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSBPL2-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSER1-
-
-
-
10Amp-
OSGEP-
-
-
-
3Gain-
OSGIN1-
-
-
-
1Loss-
OSGIN2-
-
-
-
6Amp-
OSM-
-
-
-
1Loss-
OSMR-
-
-
-
1Loss-
OSR2-
-
-
-
6Amp-
OSTC-
-
-
-
3Gain-
OTOG-
-
-
-
1Loss-
OTOP1-
-
-
-
1Loss-
OTOR-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD3-
-
-
-
0Del-
OTUD4-
-
-
-
3Gain-
OTUD6B-
-
-
-
6Amp-
OTUD7A-
-
-
-
1Loss-
OTULIN-
-
-
-
1Loss-
OTULINL-
-
-
-
1Loss-
OTX2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OVOL2-
-
-
-
3Gain-
OXCT1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
6Amp-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXT-
-
-
-
3Gain-
OXTR-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P4HA1-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PABPC1-
-
-
-
6Amp-
PABPC1L-
-
-
-
6Amp-
PABPC4L-
-
-
-
3Gain-
PABPN1L-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN1-
-
-
-
3Gain-
PACSIN2-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAG1-
-
-
-
6Amp-
PAIP1-
-
-
-
1Loss-
PAIP2-
-
-
-
1Loss-
PAK1IP1-
-
-
-
3Gain-
PAK5-
-
-
-
3Gain-
PAK6-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PALLD-
-
-
-
3Gain-
PAM-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK2-
-
-
-
3Gain-
PANK3-
-
-
-
1Loss-
PANK4-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPSS1-
-
-
-
3Gain-
PAPSS2-
-
-
-
1Loss-
PAQR5-
-
-
-
1Loss-
PAQR8-
-
-
-
3Gain-
PARD3-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARD6B-
-
-
-
5Amp-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARP10-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP16-
-
-
-
1Loss-
PARP2-
-
-
-
3Gain-
PARP3-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAX1-
-
-
-
4Gain-
PAX2-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAX6-
-
-
-
1Loss-
PAX7-
-
-
-
1Loss-
PAXIP1-
-
-
-
3Gain-
PBK-
-
-
-
0Del-
PBRM1-
-
-
-
1Loss-
PBX2-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP3-
-
-
-
4Gain-
PCBP4-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH10-
-
-
-
3Gain-
PCDH12-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
3Gain-
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-
PCED1A-
-
-
-
3Gain-
PCGF2-
-
-
-
5Amp-
PCGF3-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCIF1-
-
-
-
4Gain-
PCK1-
-
-
-
10Amp-
PCLAF-
-
-
-
1Loss-
PCLO-
-
-
-
3Gain-
PCM1-
-
-
-
0Del-
PCMTD1-
-
-
-
6Amp-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
3Gain-
PCNT-
-
-
-
4Gain-
PCNX1-
-
-
-
1Loss-
PCNX4-
-
-
-
1Loss-
PCOLCE-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK2-
-
-
-
3Gain-
PCSK6-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PDAP1-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD11-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE5A-
-
-
-
3Gain-
PDE6A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDE7A-
-
-
-
6Amp-
PDE8A-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFB-
-
-
-
1Loss-
PDGFC-
-
-
-
3Gain-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
0Del-
PDHA2-
-
-
-
3Gain-
PDHB-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM2-
-
-
-
0Del-
PDLIM3-
-
-
-
3Gain-
PDLIM4-
-
-
-
1Loss-
PDLIM5-
-
-
-
3Gain-
PDP1-
-
-
-
6Amp-
PDP2-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDRG1-
-
-
-
3Gain-
PDXP-
-
-
-
1Loss-
PDYN-
-
-
-
3Gain-
PDZD2-
-
-
-
1Loss-
PDZD7-
-
-
-
1Loss-
PEAK1-
-
-
-
1Loss-
PEBP4-
-
-
-
0Del-
PEG10-
-
-
-
3Gain-
PELI2-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PENK-
-
-
-
6Amp-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PES1-
-
-
-
1Loss-
PET117-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX10-
-
-
-
1Loss-
PEX11A-
-
-
-
1Loss-
PEX14-
-
-
-
1Loss-
PEX2-
-
-
-
6Amp-
PEX26-
-
-
-
1Loss-
PEX6-
-
-
-
3Gain-
PFDN1-
-
-
-
1Loss-
PFDN4-
-
-
-
7Amp-
PFDN6-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGAP3-
-
-
-
5Amp-
PGBD1-
-
-
-
3Gain-
PGBD4-
-
-
-
1Loss-
PGC-
-
-
-
3Gain-
PGD-
-
-
-
1Loss-
PGF-
-
-
-
1Loss-
PGGHG-
-
-
-
0Del-
PGGT1B-
-
-
-
1Loss-
PGK2-
-
-
-
3Gain-
PGPEP1L-
-
-
-
1Loss-
PGRMC2-
-
-
-
3Gain-
PHACTR1-
-
-
-
3Gain-
PHACTR3-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF1-
-
-
-
3Gain-
PHF13-
-
-
-
1Loss-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
6Amp-
PHF21B-
-
-
-
1Loss-
PHF5A-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHRF1-
-
-
-
0Del-
PHTF2-
-
-
-
3Gain-
PHYHIP-
-
-
-
0Del-
PI15-
-
-
-
6Amp-
PI16-
-
-
-
3Gain-
PI3-
-
-
-
6Amp-
PI4K2A-
-
-
-
1Loss-
PI4KA-
-
-
-
1Loss-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIF1-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGC-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGH-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGT-
-
-
-
4Gain-
PIGU-
-
-
-
3Gain-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CD-
-
-
-
1Loss-
PIK3CG-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM1-
-
-
-
3Gain-
PIM3-
-
-
-
1Loss-
PINK1-
-
-
-
0Del-
PINX1-
-
-
-
0Del-
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PIP4K2B-
-
-
-
5Amp-
PIP4P1-
-
-
-
3Gain-
PIP4P2-
-
-
-
6Amp-
PISD-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PITX2-
-
-
-
3Gain-
PITX3-
-
-
-
1Loss-
PIWIL2-
-
-
-
0Del-
PIWIL3-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1-
-
-
-
3Gain-
PKHD1L1-
-
-
-
6Amp-
PKIA-
-
-
-
6Amp-
PKIG-
-
-
-
6Amp-
PKM-
-
-
-
1Loss-
PKP3-
-
-
-
0Del-
PLA2G12A-
-
-
-
3Gain-
PLA2G12B-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G2A-
-
-
-
0Del-
PLA2G2C-
-
-
-
0Del-
PLA2G2D-
-
-
-
0Del-
PLA2G2E-
-
-
-
0Del-
PLA2G2F-
-
-
-
0Del-
PLA2G3-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2G5-
-
-
-
0Del-
PLA2G6-
-
-
-
1Loss-
PLA2G7-
-
-
-
3Gain-
PLAC8L1-
-
-
-
1Loss-
PLAC9-
-
-
-
1Loss-
PLAG1-
-
-
-
6Amp-
PLAGL2-
-
-
-
3Gain-
PLAT-
-
-
-
5Amp-
PLAU-
-
-
-
1Loss-
PLCB1-
-
-
-
3Gain-
PLCB2-
-
-
-
1Loss-
PLCB4-
-
-
-
3Gain-
PLCD1-
-
-
-
1Loss-
PLCE1-
-
-
-
1Loss-
PLCG2-
-
-
-
1Loss-
PLCH2-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD3-
-
-
-
3Gain-
PLD4-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEK2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA2-
-
-
-
3Gain-
PLEKHA7-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
6Amp-
PLEKHG3-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHG4Bp.P333L
Missense
SNP
0.548
3Gain-
PLEKHG5-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHM1p.R914W
Missense
SNP
0.631
2--
PLEKHM2-
-
-
-
1Loss-
PLEKHN1-
-
-
-
1Loss-
PLEKHO2-
-
-
-
1Loss-
PLIN1-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLK4-
-
-
-
3Gain-
PLLP-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLOD3-
-
-
-
3Gain-
PLPBP-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLRG1-
-
-
-
3Gain-
PLTP-
-
-
-
4Gain-
PLXDC1-
-
-
-
5Amp-
PLXNA2p.R16H
Missense
SNP
0.472
2--
PLXNA4-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXNB2-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMEPA1-
-
-
-
10Amp-
PMFBP1-
-
-
-
1Loss-
PML-
-
-
-
1Loss-
PMM1-
-
-
-
1Loss-
PMP2-
-
-
-
6Amp-
PMPCB-
-
-
-
3Gain-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
0Del-
PNMT-
-
-
-
5Amp-
PNOC-
-
-
-
0Del-
PNP-
-
-
-
3Gain-
PNPLA1-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
POC1A-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
POFUT1-
-
-
-
3Gain-
POFUT2-
-
-
-
4Gain-
POLB-
-
-
-
5Amp-
POLDIP3-
-
-
-
1Loss-
POLE2-
-
-
-
1Loss-
POLG-
-
-
-
1Loss-
POLH-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLN-
-
-
-
1Loss-
POLR1A-
-
-
-
3Gain-
POLR1C-
-
-
-
3Gain-
POLR2Ap.R483C
Missense
SNP
0.350
2--
POLR2C-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2K-
-
-
-
6Amp-
POLR2L-
-
-
-
1Loss-
POLR2M-
-
-
-
1Loss-
POLR3A-
-
-
-
1Loss-
POLR3D-
-
-
-
0Del-
POLR3F-
-
-
-
4Gain-
POLR3G-
-
-
-
1Loss-
POLR3H-
-
-
-
1Loss-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L2-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
5Amp-
POMT2-
-
-
-
1Loss-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
6Amp-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
3Gain-
POU4F2-
-
-
-
3Gain-
POU4F3-
-
-
-
1Loss-
POU5F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
6Amp-
POU5F2-
-
-
-
1Loss-
PP2D1-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPA2-
-
-
-
3Gain-
PPANp.R467H
Missense
SNP
0.632
2--
PPARA-
-
-
-
1Loss-
PPARD-
-
-
-
3Gain-
PPARG-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
6Amp-
PPFIBP2-
-
-
-
1Loss-
PPIB-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPID-
-
-
-
3Gain-
PPIF-
-
-
-
1Loss-
PPIL1-
-
-
-
3Gain-
PPIL2-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1F-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPP1R10-
-
-
-
3Gain-
PPP1R11-
-
-
-
3Gain-
PPP1R13B-
-
-
-
1Loss-
PPP1R14D-
-
-
-
1Loss-
PPP1R16A-
-
-
-
3Gain-
PPP1R18-
-
-
-
3Gain-
PPP1R1B-
-
-
-
5Amp-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R36-
-
-
-
1Loss-
PPP1R3Ap.D681Y
Missense
SNP
0.217
3Gain-
PPP1R3B-
-
-
-
0Del-
PPP1R3C-
-
-
-
1Loss-
PPP1R3D-
-
-
-
1Loss-
PPP1R3G-
-
-
-
3Gain-
PPP1R42-
-
-
-
6Amp-
PPP1R9A-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
0Del-
PPP2R2A-
-
-
-
0Del-
PPP2R2B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R5C-
-
-
-
1Loss-
PPP2R5D-
-
-
-
3Gain-
PPP2R5E-
-
-
-
1Loss-
PPP3CA-
-
-
-
3Gain-
PPP3CB-
-
-
-
1Loss-
PPP3CC-
-
-
-
0Del-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PPT2-
-
-
-
3Gain-
PPT2-EGFL8-
-
-
-
3Gain-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
0Del-
PRAG1-
-
-
-
0Del-
PRAME-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRDM10-
-
-
-
3Gain-
PRDM14-
-
-
-
6Amp-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM5-
-
-
-
3Gain-
PRDM6-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDM9-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELID2-
-
-
-
1Loss-
PRELID3B-
-
-
-
21Amp-
PREX1-
-
-
-
5Amp-
PREX2-
-
-
-
6Amp-
PRF1-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRICKLE4p.R208C
Missense
SNP
0.341
3Gain-
PRIM2-
-
-
-
3Gain-
PRIMA1-
-
-
-
1Loss-
PRIMPOL-
-
-
-
3Gain-
PRKAA1-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAR2A-
-
-
-
1Loss-
PRKAR2B-
-
-
-
3Gain-
PRKCD-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCZ-
-
-
-
1Loss-
PRKDC-
-
-
-
6Amp-
PRKRIP1-
-
-
-
3Gain-
PRL-
-
-
-
3Gain-
PRLR-
-
-
-
3Gain-
PRMT2-
-
-
-
4Gain-
PRMT3-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRMT9-
-
-
-
3Gain-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROB1-
-
-
-
1Loss-
PROCR-
-
-
-
3Gain-
PRODH-
-
-
-
1Loss-
PROKR2-
-
-
-
3Gain-
PROX2-
-
-
-
1Loss-
PRPF4B-
-
-
-
3Gain-
PRPF6-
-
-
-
3Gain-
PRPH2-
-
-
-
3Gain-
PRR14L-
-
-
-
1Loss-
PRR16-
-
-
-
1Loss-
PRR23D1-
-
-
-
0Del-
PRR23D2-
-
-
-
0Del-
PRR3-
-
-
-
3Gain-
PRR33-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRC2A-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRG4-
-
-
-
1Loss-
PRRT1-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS12-
-
-
-
3Gain-
PRSS16-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS48-
-
-
-
3Gain-
PRSS50-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS55-
-
-
-
0Del-
PRSS58-
-
-
-
3Gain-
PRTG-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PRXL2B-
-
-
-
1Loss-
PSAP-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSD-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
0Del-
PSEN1-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSKH2-
-
-
-
6Amp-
PSMA1-
-
-
-
1Loss-
PSMA3-
-
-
-
1Loss-
PSMA4-
-
-
-
1Loss-
PSMA7-
-
-
-
3Gain-
PSMA8-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMB3-
-
-
-
5Amp-
PSMB8-
-
-
-
3Gain-
PSMB9-
-
-
-
3Gain-
PSMC1-
-
-
-
1Loss-
PSMC2-
-
-
-
3Gain-
PSMC3-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD13-
-
-
-
0Del-
PSMD3-
-
-
-
5Amp-
PSMD7-
-
-
-
1Loss-
PSMF1-
-
-
-
3Gain-
PSMG4-
-
-
-
3Gain-
PSORS1C1-
-
-
-
3Gain-
PSORS1C2-
-
-
-
3Gain-
PSTK-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTCD1-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTCD3-
-
-
-
3Gain-
PTCHD4-
-
-
-
3Gain-
PTCRA-
-
-
-
3Gain-
PTDSS1-
-
-
-
6Amp-
PTDSS2-
-
-
-
0Del-
PTEN-
-
-
-
1Loss-
PTGDR-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGIS-
-
-
-
5Amp-
PTGR2-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
0Del-
PTK6-
-
-
-
3Gain-
PTK7-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPMT1-
-
-
-
1Loss-
PTPN1-
-
-
-
5Amp-
PTPN12-
-
-
-
3Gain-
PTPN21-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN5-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRE-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRN2-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PURG-
-
-
-
0Del-
PUS7-
-
-
-
3Gain-
PUSL1-
-
-
-
1Loss-
PVALB-
-
-
-
1Loss-
PVRIG-
-
-
-
3Gain-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDC1-
-
-
-
3Gain-
PXDNL-
-
-
-
6Amp-
PXK-
-
-
-
1Loss-
PXMP4-
-
-
-
3Gain-
PXT1-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYGB-
-
-
-
3Gain-
PYGL-
-
-
-
1Loss-
PYGO1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QRFPR-
-
-
-
3Gain-
QRICH1-
-
-
-
1Loss-
QSER1-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
R3HCC1-
-
-
-
0Del-
R3HCC1L-
-
-
-
1Loss-
R3HDML-
-
-
-
10Amp-
RAB11A-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB15-
-
-
-
1Loss-
RAB19-
-
-
-
3Gain-
RAB22A-
-
-
-
10Amp-
RAB23-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB2A-
-
-
-
6Amp-
RAB33B-
-
-
-
3Gain-
RAB36-
-
-
-
1Loss-
RAB37-
-
-
-
3Gain-
RAB3C-
-
-
-
1Loss-
RAB44-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB8B-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABGGTB-
-
-
-
1Loss-
RABL2B-
-
-
-
1Loss-
RAC2-
-
-
-
1Loss-
RAD1-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
6Amp-
RAD21L1-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD54B-
-
-
-
6Amp-
RAD54L2-
-
-
-
1Loss-
RAE1-
-
-
-
7Amp-
RAF1-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI14-
-
-
-
1Loss-
RALGAPA2-
-
-
-
4Gain-
RALGPS2-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
6Amp-
RAMAC-
-
-
-
1Loss-
RANBP1-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP3Lp.V34D
Missense
SNP
0.500
3Gain-
RANBP9-
-
-
-
3Gain-
RANGAP1-
-
-
-
1Loss-
RAP1GAP-
-
-
-
0Del-
RAP1GDS1-
-
-
-
3Gain-
RAPGEF2-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RAPSN-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARRES2-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASD2-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASL12-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RASSF7-
-
-
-
0Del-
RAX-
-
-
-
1Loss-
RB1CC1-
-
-
-
6Amp-
RBBP8-
-
-
-
1Loss-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
4Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
6Amp-
RBM15B-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM24-
-
-
-
3Gain-
RBM25-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM38-
-
-
-
10Amp-
RBM39-
-
-
-
3Gain-
RBM46-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RBPJL-
-
-
-
4Gain-
RBPMS-
-
-
-
0Del-
RBPMS2-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RC3H1-
-
-
-
3Gain-
RCAN2-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCC2-
-
-
-
1Loss-
RCCD1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCSD1-
-
-
-
3Gain-
RD3L-
-
-
-
1Loss-
RDH10-
-
-
-
6Amp-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
REC114-
-
-
-
1Loss-
RECQL4-
-
-
-
3Gain-
REELD1-
-
-
-
3Gain-
REEP1-
-
-
-
3Gain-
REEP2-
-
-
-
1Loss-
REEP4-
-
-
-
0Del-
REEP5-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RELN-
-
-
-
3Gain-
REM1-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
RER1-
-
-
-
1Loss-
RERE-
-
-
-
1Loss-
RETREG1-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFESD-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RFX7-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGL2-
-
-
-
3Gain-
RGL4-
-
-
-
1Loss-
RGMA-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS12-
-
-
-
1Loss-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS19-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS20-
-
-
-
6Amp-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
6Amp-
RGS6-
-
-
-
1Loss-
RGS7BP-
-
-
-
1Loss-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHAG-
-
-
-
3Gain-
RHBDD2-
-
-
-
3Gain-
RHBDD3-
-
-
-
1Loss-
RHCG-
-
-
-
1Loss-
RHEB-
-
-
-
3Gain-
RHOA-
-
-
-
1Loss-
RHOBTB2-
-
-
-
0Del-
RHOBTB3-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOV-
-
-
-
1Loss-
RHPN1-
-
-
-
3Gain-
RIBC2-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
0Del-
RICTOR-
-
-
-
1Loss-
RIDA-
-
-
-
6Amp-
RIMS2-
-
-
-
6Amp-
RIMS4-
-
-
-
6Amp-
RIN2-
-
-
-
4Gain-
RIN3-
-
-
-
1Loss-
RING1-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RIOK1-
-
-
-
3Gain-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
1Loss-
RIOX1-
-
-
-
1Loss-
RIPK1-
-
-
-
3Gain-
RIPK2-
-
-
-
6Amp-
RIPOR1-
-
-
-
1Loss-
RIPOR2-
-
-
-
3Gain-
RIPOR3-
-
-
-
5Amp-
RIT2-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RMC1-
-
-
-
1Loss-
RMDN1-
-
-
-
6Amp-
RMDN3-
-
-
-
1Loss-
RMND5A-
-
-
-
3Gain-
RNASE1-
-
-
-
3Gain-
RNASE10-
-
-
-
3Gain-
RNASE11-
-
-
-
3Gain-
RNASE12-
-
-
-
3Gain-
RNASE13-
-
-
-
3Gain-
RNASE2-
-
-
-
3Gain-
RNASE3-
-
-
-
3Gain-
RNASE4-
-
-
-
3Gain-
RNASE6-
-
-
-
3Gain-
RNASE7-
-
-
-
3Gain-
RNASE8-
-
-
-
3Gain-
RNASE9-
-
-
-
3Gain-
RNASEL-
-
-
-
3Gain-
RNF103-
-
-
-
3Gain-
RNF103-CHMP3-
-
-
-
3Gain-
RNF111-
-
-
-
1Loss-
RNF114-
-
-
-
5Amp-
RNF122-
-
-
-
3Gain-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF138-
-
-
-
1Loss-
RNF139-
-
-
-
6Amp-
RNF14-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF144B-
-
-
-
3Gain-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF150-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF170-
-
-
-
5Amp-
RNF175-
-
-
-
3Gain-
RNF180-
-
-
-
1Loss-
RNF181-
-
-
-
3Gain-
RNF182-
-
-
-
3Gain-
RNF185-
-
-
-
1Loss-
RNF186-
-
-
-
0Del-
RNF19A-
-
-
-
6Amp-
RNF2-
-
-
-
3Gain-
RNF207-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF223-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF39-
-
-
-
3Gain-
RNF4-
-
-
-
1Loss-
RNF5-
-
-
-
3Gain-
RNF8-
-
-
-
3Gain-
RNH1-
-
-
-
0Del-
RNLS-
-
-
-
1Loss-
ROMO1-
-
-
-
3Gain-
ROPN1L-
-
-
-
1Loss-
RORA-
-
-
-
1Loss-
RP1-
-
-
-
6Amp-
RP1L1-
-
-
-
0Del-
RPAP1-
-
-
-
1Loss-
RPEL1-
-
-
-
1Loss-
RPL10A-
-
-
-
3Gain-
RPL13-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL19-
-
-
-
5Amp-
RPL22-
-
-
-
1Loss-
RPL23-
-
-
-
5Amp-
RPL27A-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL30-
-
-
-
6Amp-
RPL32-
-
-
-
1Loss-
RPL34-
-
-
-
3Gain-
RPL36AL-
-
-
-
1Loss-
RPL37-
-
-
-
3Gain-
RPL38-
-
-
-
3Gain-
RPL4-
-
-
-
1Loss-
RPL7-
-
-
-
6Amp-
RPL7L1-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPLP1-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPP21-
-
-
-
3Gain-
RPP25-
-
-
-
1Loss-
RPP30-
-
-
-
1Loss-
RPP40-
-
-
-
3Gain-
RPRD1A-
-
-
-
1Loss-
RPS10-
-
-
-
3Gain-
RPS10-NUDT3-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS17-
-
-
-
1Loss-
RPS18-
-
-
-
3Gain-
RPS19BP1-
-
-
-
1Loss-
RPS20-
-
-
-
6Amp-
RPS21-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS27L-
-
-
-
1Loss-
RPS29-
-
-
-
1Loss-
RPS3A-
-
-
-
3Gain-
RPS6KA5-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPTORp.G1302S
Missense
SNP
0.260
2--
RPUSD2-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRBP1-
-
-
-
3Gain-
RREB1-
-
-
-
3Gain-
RRH-
-
-
-
3Gain-
RRM1-
-
-
-
1Loss-
RRM2B-
-
-
-
6Amp-
RRP12-
-
-
-
1Loss-
RRP36-
-
-
-
3Gain-
RRP7A-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
6Amp-
RSBN1L-
-
-
-
3Gain-
RSC1A1-
-
-
-
1Loss-
RSL24D1-
-
-
-
1Loss-
RSPH14-
-
-
-
1Loss-
RSPH9-
-
-
-
3Gain-
RSPO2-
-
-
-
6Amp-
RSPO4-
-
-
-
3Gain-
RSPRY1-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF1-
-
-
-
1Loss-
RTF2-
-
-
-
7Amp-
RTL1-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN1-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1-
-
-
-
6Amp-
RUNX2-
-
-
-
3Gain-
RWDD4-
-
-
-
3Gain-
RXFP1-
-
-
-
3Gain-
RXFP3-
-
-
-
1Loss-
RXRB-
-
-
-
3Gain-
RYR3-
-
-
-
1Loss-
S100B-
-
-
-
4Gain-
S100P-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SALL4p.I229T
Missense
SNP
0.818
5Amp-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
1Loss-
SAMD12-
-
-
-
6Amp-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD8-
-
-
-
1Loss-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMM50-
-
-
-
1Loss-
SAP25-
-
-
-
3Gain-
SAP30-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAPCD1-
-
-
-
3Gain-
SAR1A-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
0Del-
SATB1-
-
-
-
1Loss-
SATB2p.R325W
Missense
SNP
0.734
2--
SAV1-
-
-
-
1Loss-
SAXO2-
-
-
-
1Loss-
SAYSD1-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SBF1-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBSPON-
-
-
-
6Amp-
SCAF4p.N147I
Missense
SNP
0.230
2--
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAND1-
-
-
-
3Gain-
SCAP-
-
-
-
1Loss-
SCAPER-
-
-
-
1Loss-
SCARA3-
-
-
-
0Del-
SCARA5-
-
-
-
0Del-
SCARF2-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1C1-
-
-
-
0Del-
SCGB3A2-
-
-
-
1Loss-
SCGN-
-
-
-
3Gain-
SCLT1-
-
-
-
3Gain-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN4Bp.I166T
Missense
SNP
0.510
2--
SCN5A-
-
-
-
1Loss-
SCNN1Ap.QR248HC
Missense
DNP
0.806
2--
SCNN1D-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCOC-
-
-
-
3Gain-
SCP2D1-
-
-
-
4Gain-
SCRG1-
-
-
-
3Gain-
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCT-
-
-
-
0Del-
SCUBE1-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCUBE3-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDC2-
-
-
-
6Amp-
SDC4-
-
-
-
4Gain-
SDCBP-
-
-
-
6Amp-
SDCBP2-
-
-
-
3Gain-
SDF2L1-
-
-
-
1Loss-
SDF4-
-
-
-
1Loss-
SDHA-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDHB-
-
-
-
1Loss-
SDR16C5-
-
-
-
6Amp-
SDR42E1-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23B-
-
-
-
4Gain-
SEC24A-
-
-
-
1Loss-
SEC24B-
-
-
-
3Gain-
SEC24C-
-
-
-
1Loss-
SEC24D-
-
-
-
3Gain-
SEC31B-
-
-
-
1Loss-
SECISBP2L-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SEL1L2-
-
-
-
3Gain-
SELE-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SELENOM-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELENOP-
-
-
-
1Loss-
SELENOS-
-
-
-
1Loss-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4B-
-
-
-
1Loss-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
1Loss-
SEMA6A-
-
-
-
1Loss-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
1Loss-
SEMG1-
-
-
-
6Amp-
SEMG2-
-
-
-
6Amp-
SENP8-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT8-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC3-
-
-
-
10Amp-
SERINC4-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB1-
-
-
-
3Gain-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB6-
-
-
-
3Gain-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINB9-
-
-
-
3Gain-
SERPINC1-
-
-
-
3Gain-
SERPIND1-
-
-
-
1Loss-
SERPINE1-
-
-
-
3Gain-
SETBP1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD3-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SETD7-
-
-
-
3Gain-
SETD9-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SFI1-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP1-
-
-
-
3Gain-
SFRP2-
-
-
-
3Gain-
SFRP5-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFTA2-
-
-
-
3Gain-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPB-
-
-
-
3Gain-
SFTPC-
-
-
-
0Del-
SFTPD-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGCZ-
-
-
-
0Del-
SGK3-
-
-
-
6Amp-
SGMS2-
-
-
-
3Gain-
SGO1-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2D4A-
-
-
-
0Del-
SH2D4B-
-
-
-
1Loss-
SH2D5-
-
-
-
0Del-
SH2D7-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3D19-
-
-
-
3Gain-
SH3GL3-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3RF1-
-
-
-
3Gain-
SH3RF2-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHC4-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD1-
-
-
-
3Gain-
SHLD2-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SIGIRR-
-
-
-
0Del-
SIGLEC1-
-
-
-
3Gain-
SIGLEC10p.V675I
Missense
SNP
0.541
2--
SIGLEC15-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT3-
-
-
-
0Del-
SIRT5-
-
-
-
3Gain-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKI-
-
-
-
1Loss-
SKIDA1-
-
-
-
1Loss-
SKIV2Lp.T573N
Missense
SNP
0.379
3Gain-
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLA-
-
-
-
6Amp-
SLBP-
-
-
-
1Loss-
SLC10A1-
-
-
-
1Loss-
SLC10A5-
-
-
-
6Amp-
SLC10A7-
-
-
-
3Gain-
SLC12A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A5-
-
-
-
4Gain-
SLC12A6-
-
-
-
1Loss-
SLC12A7-
-
-
-
3Gain-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A3-
-
-
-
4Gain-
SLC13A4-
-
-
-
3Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A8-
-
-
-
1Loss-
SLC17A1-
-
-
-
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A6-
-
-
-
1Loss-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
0Del-
SLC19A1-
-
-
-
4Gain-
SLC19A2-
-
-
-
3Gain-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
3Gain-
SLC20A2-
-
-
-
5Amp-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A23-
-
-
-
3Gain-
SLC22A31-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A7-
-
-
-
3Gain-
SLC23A1-
-
-
-
1Loss-
SLC23A2-
-
-
-
3Gain-
SLC24A1-
-
-
-
1Loss-
SLC24A3-
-
-
-
4Gain-
SLC24A4-
-
-
-
1Loss-
SLC24A5-
-
-
-
1Loss-
SLC25A1-
-
-
-
1Loss-
SLC25A13-
-
-
-
3Gain-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A27-
-
-
-
3Gain-
SLC25A28-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A31-
-
-
-
3Gain-
SLC25A32-
-
-
-
6Amp-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A37-
-
-
-
0Del-
SLC25A38-
-
-
-
1Loss-
SLC25A4-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC25A46-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
6Amp-
SLC26A8-
-
-
-
3Gain-
SLC27A2-
-
-
-
1Loss-
SLC27A6-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC28A2-
-
-
-
1Loss-
SLC29A1-
-
-
-
3Gain-
SLC29A3-
-
-
-
1Loss-
SLC2A10-
-
-
-
4Gain-
SLC2A11-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A5-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC2A9-
-
-
-
1Loss-
SLC30A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A8-
-
-
-
6Amp-
SLC35A4-
-
-
-
1Loss-
SLC35B2-
-
-
-
3Gain-
SLC35B3-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C2-
-
-
-
4Gain-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC35E4-
-
-
-
1Loss-
SLC35F4-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G5-
-
-
-
0Del-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A3-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A13-
-
-
-
1Loss-
SLC39A14-
-
-
-
0Del-
SLC39A2-
-
-
-
3Gain-
SLC39A4-
-
-
-
3Gain-
SLC39A6-
-
-
-
1Loss-
SLC39A7-
-
-
-
3Gain-
SLC39A8-
-
-
-
3Gain-
SLC39A9-
-
-
-
1Loss-
SLC44A4-
-
-
-
3Gain-
SLC44A5-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC45A2-
-
-
-
1Loss-
SLC45A4-
-
-
-
3Gain-
SLC49A3-
-
-
-
1Loss-
SLC4A11-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC51B-
-
-
-
1Loss-
SLC52A2-
-
-
-
3Gain-
SLC52A3-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC7A11-
-
-
-
3Gain-
SLC7A13-
-
-
-
6Amp-
SLC7A2-
-
-
-
0Del-
SLC7A4-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC9A3-
-
-
-
3Gain-
SLC9A5-
-
-
-
1Loss-
SLC9A8-
-
-
-
5Amp-
SLC9B1-
-
-
-
3Gain-
SLC9B2-
-
-
-
3Gain-
SLC9C2-
-
-
-
3Gain-
SLCO3A1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
3Gain-
SLCO4C1-
-
-
-
1Loss-
SLCO5A1-
-
-
-
6Amp-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLIRP-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLK-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLPI-
-
-
-
6Amp-
SLTM-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4IP-
-
-
-
3Gain-
SMAD1-
-
-
-
3Gain-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCA5-
-
-
-
3Gain-
SMARCAD1-
-
-
-
3Gain-
SMARCB1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMARCD3-
-
-
-
3Gain-
SMC1B-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG7-
-
-
-
3Gain-
SMIM1-
-
-
-
1Loss-
SMIM13-
-
-
-
3Gain-
SMIM15-
-
-
-
1Loss-
SMIM18-
-
-
-
0Del-
SMIM19-
-
-
-
5Amp-
SMIM21-
-
-
-
1Loss-
SMIM26-
-
-
-
4Gain-
SMIM29-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMKR1-
-
-
-
3Gain-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOC1-
-
-
-
1Loss-
SMOX-
-
-
-
3Gain-
SMPD1-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SNAI1-
-
-
-
5Amp-
SNAI2-
-
-
-
6Amp-
SNAI3-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
1Loss-
SNAPC1-
-
-
-
1Loss-
SNAPC5-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNPH-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP48-
-
-
-
3Gain-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPC-
-
-
-
3Gain-
SNRPD1-
-
-
-
1Loss-
SNRPD3-
-
-
-
1Loss-
SNRPN-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
6Amp-
SNTB2-
-
-
-
1Loss-
SNTG1-
-
-
-
6Amp-
SNU13-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX16-
-
-
-
6Amp-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
3Gain-
SNX2-
-
-
-
1Loss-
SNX21-
-
-
-
4Gain-
SNX22-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX25-
-
-
-
3Gain-
SNX31-
-
-
-
6Amp-
SNX33-
-
-
-
1Loss-
SNX5-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOCS4-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOCS7-
-
-
-
5Amp-
SORBS1-
-
-
-
1Loss-
SORBS2-
-
-
-
3Gain-
SORBS3-
-
-
-
0Del-
SORCS1-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX12-
-
-
-
3Gain-
SOX17-
-
-
-
6Amp-
SOX18-
-
-
-
3Gain-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
3Gain-
SOX6-
-
-
-
1Loss-
SOX7-
-
-
-
0Del-
SP110p.A379V
Missense
SNP
0.634
2--
SPAG1-
-
-
-
6Amp-
SPAG11A-
-
-
-
0Del-
SPAG11B-
-
-
-
0Del-
SPAG4-
-
-
-
3Gain-
SPAG6-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA19-
-
-
-
3Gain-
SPATA2-
-
-
-
5Amp-
SPATA21-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA25-
-
-
-
4Gain-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA4-
-
-
-
3Gain-
SPATA5-
-
-
-
3Gain-
SPATA5L1-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATA8-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPATC1-
-
-
-
3Gain-
SPATC1L-
-
-
-
4Gain-
SPATS1-
-
-
-
3Gain-
SPCS1-
-
-
-
1Loss-
SPCS3-
-
-
-
3Gain-
SPDEF-
-
-
-
3Gain-
SPDL1-
-
-
-
1Loss-
SPDYE3-
-
-
-
3Gain-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEF1-
-
-
-
3Gain-
SPEF2-
-
-
-
3Gain-
SPEN-
-
-
-
1Loss-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPI1-
-
-
-
1Loss-
SPIDR-
-
-
-
6Amp-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT1-
-
-
-
1Loss-
SPINT3-
-
-
-
4Gain-
SPINT4-
-
-
-
4Gain-
SPIRE2-
-
-
-
1Loss-
SPO11-
-
-
-
7Amp-
SPOCK1-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPOCK3-
-
-
-
3Gain-
SPON1-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRY1-
-
-
-
3Gain-
SPRY4-
-
-
-
1Loss-
SPSB1-
-
-
-
1Loss-
SPTB-
-
-
-
1Loss-
SPTBN5-
-
-
-
1Loss-
SPTLC2-
-
-
-
1Loss-
SPTLC3-
-
-
-
3Gain-
SPTY2D1-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQLE-
-
-
-
6Amp-
SQOR-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRCIN1-
-
-
-
5Amp-
SRD5A1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRF-
-
-
-
3Gain-
SRFBP1-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRM-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRPK1-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRRD-
-
-
-
1Loss-
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF3-
-
-
-
3Gain-
SRSF5-
-
-
-
1Loss-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
1Loss-
SS18L1-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
1Loss-
SSC4D-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPO-
-
-
-
3Gain-
SSR1-
-
-
-
3Gain-
SSTR3-
-
-
-
1Loss-
SSTR4-
-
-
-
4Gain-
SSU72-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
SSUH2-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST14-
-
-
-
3Gain-
ST18-
-
-
-
6Amp-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL1-
-
-
-
6Amp-
ST3GAL2-
-
-
-
1Loss-
ST3GAL5-
-
-
-
3Gain-
ST5-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
ST7-
-
-
-
3Gain-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAC2-
-
-
-
5Amp-
STAG3-
-
-
-
3Gain-
STAMBPL1-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD3-
-
-
-
5Amp-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STAU1-
-
-
-
5Amp-
STAU2-
-
-
-
6Amp-
STC1-
-
-
-
0Del-
STEAP1-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK19-
-
-
-
3Gain-
STK3-
-
-
-
6Amp-
STK32A-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK35-
-
-
-
3Gain-
STK38-
-
-
-
3Gain-
STK4-
-
-
-
6Amp-
STMN2-
-
-
-
6Amp-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
0Del-
STMND1-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STN1-
-
-
-
1Loss-
STOML1-
-
-
-
1Loss-
STON2-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
3Gain-
STPG2-
-
-
-
3Gain-
STRA6-
-
-
-
1Loss-
STRA8-
-
-
-
3Gain-
STRC-
-
-
-
1Loss-
STRIP2-
-
-
-
3Gain-
STT3B-
-
-
-
1Loss-
STX16-
-
-
-
21Amp-
STX16-NPEPL1-
-
-
-
21Amp-
STX18-
-
-
-
1Loss-
STX1A-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STYX-
-
-
-
1Loss-
STYXL1-
-
-
-
3Gain-
SUB1-
-
-
-
1Loss-
SUCO-
-
-
-
3Gain-
SUFU-
-
-
-
1Loss-
SULF1-
-
-
-
6Amp-
SULF2-
-
-
-
5Amp-
SULT4A1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUN2-
-
-
-
1Loss-
SUN5-
-
-
-
3Gain-
SUPT3H-
-
-
-
3Gain-
SUPV3L1-
-
-
-
1Loss-
SUSD2-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SV2B-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SVIL-
-
-
-
1Loss-
SVIP-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SWAP70-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYBU-
-
-
-
6Amp-
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYCP2-
-
-
-
1Loss-
SYCP2L-
-
-
-
3Gain-
SYN2-
-
-
-
1Loss-
SYN3-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNGAP1-
-
-
-
3Gain-
SYNGR1-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPO2-
-
-
-
3Gain-
SYNPO2L-
-
-
-
1Loss-
SYNRG-
-
-
-
5Amp-
SYPL1-
-
-
-
3Gain-
SYS1-
-
-
-
4Gain-
SYS1-DBNDD2-
-
-
-
4Gain-
SYT16-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SZRD1-
-
-
-
1Loss-
TAB1-
-
-
-
1Loss-
TAC1-
-
-
-
3Gain-
TACC1-
-
-
-
3Gain-
TACC3-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TACR3-
-
-
-
3Gain-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF11-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF2-
-
-
-
6Amp-
TAF4-
-
-
-
3Gain-
TAF4B-
-
-
-
1Loss-
TAF5-
-
-
-
1Loss-
TAF6-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAF8-
-
-
-
3Gain-
TAF9-
-
-
-
1Loss-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TANGO2-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAP1-
-
-
-
3Gain-
TAP2-
-
-
-
3Gain-
TAPBP-
-
-
-
3Gain-
TARDBP-
-
-
-
1Loss-
TARS-
-
-
-
1Loss-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
0Del-
TAS1R3-
-
-
-
1Loss-
TAS2R1-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TASP1-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TATDN1-
-
-
-
6Amp-
TATDN2-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D20-
-
-
-
3Gain-
TBC1D21-
-
-
-
1Loss-
TBC1D22A-
-
-
-
1Loss-
TBC1D22B-
-
-
-
3Gain-
TBC1D2B-
-
-
-
1Loss-
TBC1D31-
-
-
-
6Amp-
TBC1D5-
-
-
-
1Loss-
TBC1D7-
-
-
-
3Gain-
TBC1D9-
-
-
-
3Gain-
TBCA-
-
-
-
1Loss-
TBCC-
-
-
-
3Gain-
TBCK-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBPL2-
-
-
-
1Loss-
TBX1-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TC2N-
-
-
-
1Loss-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCAIMp.G107A
Missense
SNP
1.000
1Loss-
TCAP-
-
-
-
5Amp-
TCEA1-
-
-
-
6Amp-
TCEA2-
-
-
-
3Gain-
TCERG1-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
1Loss-
TCF15-
-
-
-
3Gain-
TCF19-
-
-
-
3Gain-
TCF20-
-
-
-
1Loss-
TCF24-
-
-
-
6Amp-
TCF25-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCIM-
-
-
-
3Gain-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP11-
-
-
-
3Gain-
TCP11L1-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTE1-
-
-
-
3Gain-
TCTN3-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDO2-
-
-
-
3Gain-
TDP1-
-
-
-
1Loss-
TDP2-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD6-
-
-
-
3Gain-
TDRD9-
-
-
-
1Loss-
TDRP-
-
-
-
0Del-
TEAD1-
-
-
-
1Loss-
TEAD3-
-
-
-
3Gain-
TECPR1-
-
-
-
3Gain-
TECPR2-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TEF-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENM3-
-
-
-
3Gain-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
1Loss-
TEP1-
-
-
-
3Gain-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF1-
-
-
-
6Amp-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TERT-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TET2-
-
-
-
3Gain-
TEX15-
-
-
-
0Del-
TEX22-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX36-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX47-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TEX9-
-
-
-
1Loss-
TFAP2A-
-
-
-
3Gain-
TFAP2B-
-
-
-
3Gain-
TFAP2C-
-
-
-
7Amp-
TFAP2D-
-
-
-
3Gain-
TFEB-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFIP11-
-
-
-
1Loss-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TG-
-
-
-
6Amp-
TGFB3-
-
-
-
1Loss-
TGFBI-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGM3-
-
-
-
3Gain-
TGM4-
-
-
-
1Loss-
TGM5-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGM7-
-
-
-
1Loss-
TGS1-
-
-
-
6Amp-
TH-
-
-
-
1Loss-
THAP1-
-
-
-
5Amp-
THAP10-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP7-
-
-
-
1Loss-
THBD-
-
-
-
4Gain-
THBS1-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THEM6-
-
-
-
3Gain-
THG1L-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
THYN1-
-
-
-
3Gain-
TICRR-
-
-
-
1Loss-
TIFA-
-
-
-
3Gain-
TIFAB-
-
-
-
1Loss-
TIGD4-
-
-
-
3Gain-
TIGD5-
-
-
-
3Gain-
TIGD6-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM9-
-
-
-
1Loss-
TIMP3-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TINAG-
-
-
-
3Gain-
TIPIN-
-
-
-
1Loss-
TIPRL-
-
-
-
3Gain-
TJAP1-
-
-
-
3Gain-
TJP1-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TKTL2-
-
-
-
3Gain-
TLCD2p.R177H
Missense
SNP
1.000
2--
TLDC1-
-
-
-
1Loss-
TLE3-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLL1-
-
-
-
3Gain-
TLL2-
-
-
-
1Loss-
TLN2-
-
-
-
1Loss-
TLNRD1-
-
-
-
1Loss-
TLR2-
-
-
-
3Gain-
TLR3-
-
-
-
3Gain-
TLR9-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM2D2-
-
-
-
3Gain-
TM2D3-
-
-
-
1Loss-
TM6SF1-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TM9SF4-
-
-
-
3Gain-
TMA16-
-
-
-
3Gain-
TMA7-
-
-
-
1Loss-
TMC2-
-
-
-
3Gain-
TMC3-
-
-
-
1Loss-
TMCO4-
-
-
-
0Del-
TMCO5A-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED3-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM121-
-
-
-
1Loss-
TMEM121B-
-
-
-
1Loss-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM130-
-
-
-
3Gain-
TMEM131L-
-
-
-
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM144-
-
-
-
3Gain-
TMEM14A-
-
-
-
3Gain-
TMEM14B-
-
-
-
3Gain-
TMEM14C-
-
-
-
3Gain-
TMEM150A-
-
-
-
3Gain-
TMEM151B-
-
-
-
3Gain-
TMEM154-
-
-
-
3Gain-
TMEM155-
-
-
-
3Gain-
TMEM158-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM168-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM170B-
-
-
-
3Gain-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
1Loss-
TMEM184B-
-
-
-
1Loss-
TMEM184C-
-
-
-
3Gain-
TMEM189-
-
-
-
5Amp-
TMEM189-UBE2V1-
-
-
-
5Amp-
TMEM191B-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM192-
-
-
-
3Gain-
TMEM201-
-
-
-
1Loss-
TMEM202-
-
-
-
1Loss-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM213-
-
-
-
3Gain-
TMEM217-
-
-
-
3Gain-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM229B-
-
-
-
1Loss-
TMEM230-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM239-
-
-
-
3Gain-
TMEM240-
-
-
-
1Loss-
TMEM241-
-
-
-
1Loss-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM251-
-
-
-
1Loss-
TMEM254-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM267-
-
-
-
1Loss-
TMEM270-
-
-
-
3Gain-
TMEM30B-
-
-
-
1Loss-
TMEM40-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM45B-
-
-
-
3Gain-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM62-
-
-
-
1Loss-
TMEM63B-
-
-
-
3Gain-
TMEM63C-
-
-
-
1Loss-
TMEM64-
-
-
-
6Amp-
TMEM65-
-
-
-
6Amp-
TMEM67-
-
-
-
6Amp-
TMEM68-
-
-
-
6Amp-
TMEM70-
-
-
-
6Amp-
TMEM71-
-
-
-
6Amp-
TMEM74-
-
-
-
6Amp-
TMEM74B-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM82-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM88B-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMUB1-
-
-
-
3Gain-
TMX1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNF-
-
-
-
3Gain-
TNFAIP2-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
0Del-
TNFRSF10B-
-
-
-
0Del-
TNFRSF10C-
-
-
-
0Del-
TNFRSF10D-
-
-
-
0Del-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
6Amp-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF21-
-
-
-
3Gain-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP1-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
3Gain-
TNKS-
-
-
-
0Del-
TNKS2-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNNC2-
-
-
-
4Gain-
TNNI2-
-
-
-
1Loss-
TNNI3K-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNRC6B-
-
-
-
1Loss-
TOB2-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOMM20L-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM34-
-
-
-
6Amp-
TOMM6-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX-
-
-
-
6Amp-
TOX2-
-
-
-
10Amp-
TP53p.R213*
Nonsense
SNP
1.000
2--
TP53AIP1-
-
-
-
3Gain-
TP53BP1-
-
-
-
1Loss-
TP53INP1-
-
-
-
6Amp-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
4Gain-
TP53TG5-
-
-
-
4Gain-
TP73-
-
-
-
1Loss-
TPD52-
-
-
-
6Amp-
TPD52L2-
-
-
-
3Gain-
TPGS2-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPM1-
-
-
-
1Loss-
TPMT-
-
-
-
3Gain-
TPP1-
-
-
-
1Loss-
TPPP-
-
-
-
3Gain-
TPPP2-
-
-
-
3Gain-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRG1L-
-
-
-
1Loss-
TPST1-
-
-
-
3Gain-
TPST2-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TPX2-
-
-
-
3Gain-
TRABD-
-
-
-
1Loss-
TRADD-
-
-
-
1Loss-
TRAF3-
-
-
-
1Loss-
TRAF6-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
6Amp-
TRAM1L1-
-
-
-
3Gain-
TRAM2-
-
-
-
3Gain-
TRANK1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
3Gain-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRAPPC9-
-
-
-
3Gain-
TREM1-
-
-
-
3Gain-
TREM2-
-
-
-
3Gain-
TREML1-
-
-
-
3Gain-
TREML2-
-
-
-
3Gain-
TREML4-
-
-
-
3Gain-
TRERF1-
-
-
-
3Gain-
TREX1-
-
-
-
1Loss-
TRHR-
-
-
-
6Amp-
TRIB1-
-
-
-
6Amp-
TRIB3-
-
-
-
3Gain-
TRIM10-
-
-
-
3Gain-
TRIM15-
-
-
-
3Gain-
TRIM2p.F444C
Missense
SNP
0.329
3Gain-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24-
-
-
-
3Gain-
TRIM26-
-
-
-
3Gain-
TRIM27-
-
-
-
3Gain-
TRIM3-
-
-
-
1Loss-
TRIM31-
-
-
-
3Gain-
TRIM35-
-
-
-
0Del-
TRIM36-
-
-
-
1Loss-
TRIM38-
-
-
-
3Gain-
TRIM39-
-
-
-
3Gain-
TRIM39-RPP21-
-
-
-
3Gain-
TRIM4-
-
-
-
3Gain-
TRIM40-
-
-
-
3Gain-
TRIM44-
-
-
-
1Loss-
TRIM49B-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM50-
-
-
-
3Gain-
TRIM51GP-
-
-
-
1Loss-
TRIM55-
-
-
-
6Amp-
TRIM56-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM60-
-
-
-
3Gain-
TRIM61-
-
-
-
3Gain-
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM75P-
-
-
-
3Gain-
TRIM8-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIML1-
-
-
-
3Gain-
TRIML2-
-
-
-
3Gain-
TRIO-
-
-
-
1Loss-
TRIOBP-
-
-
-
1Loss-
TRIP11-
-
-
-
1Loss-
TRIP13-
-
-
-
3Gain-
TRIP4-
-
-
-
1Loss-
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
6Amp-
TRMT10A-
-
-
-
3Gain-
TRMT12-
-
-
-
6Amp-
TRMT1L-
-
-
-
3Gain-
TRMT2A-
-
-
-
1Loss-
TRMT44-
-
-
-
1Loss-
TRMT5-
-
-
-
1Loss-
TRMT6-
-
-
-
3Gain-
TRMT61A-
-
-
-
1Loss-
TRMT9B-
-
-
-
0Del-
TRMU-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
6Amp-
TRPC3-
-
-
-
3Gain-
TRPC4AP-
-
-
-
3Gain-
TRPC7-
-
-
-
1Loss-
TRPM1-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPS1-
-
-
-
6Amp-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSG101-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
7Amp-
TSLP-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN3-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN4-
-
-
-
1Loss-
TSPAN5-
-
-
-
3Gain-
TSPO-
-
-
-
1Loss-
TSPO2-
-
-
-
3Gain-
TSPYL5-
-
-
-
6Amp-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK2-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TTBK1-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC17-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC23L-
-
-
-
1Loss-
TTC26-
-
-
-
3Gain-
TTC27-
-
-
-
2-BIRC6--TTC27
TTC28-
-
-
-
1Loss-
TTC29p.M385V
Missense
SNP
0.604
3Gain-
TTC33-
-
-
-
3Gain-
TTC34-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTC5-
-
-
-
3Gain-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTI2-
-
-
-
3Gain-
TTLL1-
-
-
-
1Loss-
TTLL10-
-
-
-
1Loss-
TTLL12-
-
-
-
1Loss-
TTLL13P-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTLL9-
-
-
-
3Gain-
TTPA-
-
-
-
6Amp-
TTPAL-
-
-
-
10Amp-
TTR-
-
-
-
1Loss-
TTYH2-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA3Ep.R2H
Missense
SNP
0.696
2--
TUBA8-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB-
-
-
-
3Gain-
TUBB1-
-
-
-
21Amp-
TUBB2A-
-
-
-
3Gain-
TUBB2B-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUBGCP6-
-
-
-
1Loss-
TULP1-
-
-
-
3Gain-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
0Del-
TWF2-
-
-
-
1Loss-
TWNK-
-
-
-
1Loss-
TXN2-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC16-
-
-
-
1Loss-
TXNDC5-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TYMP-
-
-
-
1Loss-
TYRO3-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
TYW3-
-
-
-
1Loss-
UACA-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAP1Lp.R287Q
Missense
SNP
1.000
1Loss-
UBD-
-
-
-
3Gain-
UBE2B-
-
-
-
1Loss-
UBE2C-
-
-
-
4Gain-
UBE2D2-
-
-
-
1Loss-
UBE2D3-
-
-
-
3Gain-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2J2-
-
-
-
1Loss-
UBE2L3-
-
-
-
1Loss-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2QL1-
-
-
-
1Loss-
UBE2V1-
-
-
-
5Amp-
UBE2V2-
-
-
-
6Amp-
UBE2W-
-
-
-
6Amp-
UBE3A-
-
-
-
1Loss-
UBE3C-
-
-
-
3Gain-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBOX5-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
1Loss-
UBR2-
-
-
-
3Gain-
UBR3p.R179Q
Missense
SNP
0.318
2--
UBR4-
-
-
-
0Del-
UBR5-
-
-
-
6Amp-
UBR7-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBXN10-
-
-
-
0Del-
UBXN2B-
-
-
-
6Amp-
UBXN8-
-
-
-
0Del-
UCHL5-
-
-
-
3Gain-
UCKL1-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UCP1-
-
-
-
3Gain-
UEVLD-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFSP1-
-
-
-
3Gain-
UFSP2-
-
-
-
3Gain-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UGT8-
-
-
-
3Gain-
UHRF1BP1-
-
-
-
3Gain-
ULK3-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UNC13C-
-
-
-
1Loss-
UNC45A-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC5C-
-
-
-
3Gain-
UNC5CL-
-
-
-
3Gain-
UNC5D-
-
-
-
3Gain-
UNC79-
-
-
-
1Loss-
UPB1-
-
-
-
1Loss-
UPK3A-
-
-
-
1Loss-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UQCC1-
-
-
-
3Gain-
UQCC2-
-
-
-
3Gain-
UQCR10-
-
-
-
1Loss-
UQCRB-
-
-
-
6Amp-
UQCRC1-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
UROS-
-
-
-
1Loss-
USB1-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP17L1-
-
-
-
0Del-
USP17L13-
-
-
-
1Loss-
USP17L3-
-
-
-
0Del-
USP17L4-
-
-
-
0Del-
USP17L7-
-
-
-
0Del-
USP17L8-
-
-
-
0Del-
USP18-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP3-
-
-
-
1Loss-
USP38-
-
-
-
3Gain-
USP39-
-
-
-
3Gain-
USP4-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP48-
-
-
-
0Del-
USP49-
-
-
-
3Gain-
USP50-
-
-
-
1Loss-
USP53-
-
-
-
3Gain-
USP54-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP23-
-
-
-
6Amp-
UTP4-
-
-
-
1Loss-
UTS2-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VAMP5-
-
-
-
3Gain-
VAMP8-
-
-
-
3Gain-
VAPB-
-
-
-
10Amp-
VARS-
-
-
-
3Gain-
VARS2-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VCPIP1-
-
-
-
6Amp-
VCPKMT-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VDAC3-
-
-
-
5Amp-
VEGFA-
-
-
-
3Gain-
VEGFC-
-
-
-
3Gain-
VENTX-
-
-
-
1Loss-
VGF-
-
-
-
3Gain-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
6Amp-
VKORC1L1-
-
-
-
3Gain-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13B-
-
-
-
6Amp-
VPS13Cp.F2829C
Missense
SNP
0.997
1Loss-
VPS13D-
-
-
-
1Loss-
VPS16-
-
-
-
3Gain-
VPS18-
-
-
-
1Loss-
VPS26A-
-
-
-
1Loss-
VPS26B-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS33B-
-
-
-
1Loss-
VPS37A-
-
-
-
0Del-
VPS37D-
-
-
-
3Gain-
VPS39-
-
-
-
1Loss-
VPS4A-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS50-
-
-
-
3Gain-
VPS52-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIR-
-
-
-
1Loss-
VSX1-
-
-
-
3Gain-
VSX2-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA1-
-
-
-
1Loss-
VWA5B1-
-
-
-
0Del-
VWA7-
-
-
-
3Gain-
VXN-
-
-
-
6Amp-
WAC-
-
-
-
1Loss-
WAPL-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WASH3P-
-
-
-
NDNDWASH3P--COQ8A
WASHC5-
-
-
-
6Amp-
WASL-
-
-
-
3Gain-
WBP1L-
-
-
-
1Loss-
WBP2NL-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR17-
-
-
-
3Gain-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR46-
-
-
-
3Gain-
WDR48-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR61-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR86-
-
-
-
3Gain-
WDR89-
-
-
-
1Loss-
WDR91-
-
-
-
3Gain-
WDR93-
-
-
-
1Loss-
WDR97-
-
-
-
3Gain-
WDYHV1-
-
-
-
6Amp-
WEE1-
-
-
-
1Loss-
WEE2-
-
-
-
3Gain-
WFDC1-
-
-
-
1Loss-
WFDC10A-
-
-
-
4Gain-
WFDC10B-
-
-
-
4Gain-
WFDC11-
-
-
-
4Gain-
WFDC12-
-
-
-
6Amp-
WFDC13-
-
-
-
4Gain-
WFDC2-
-
-
-
4Gain-
WFDC3-
-
-
-
4Gain-
WFDC5-
-
-
-
6Amp-
WFDC6-
-
-
-
4Gain-
WFDC8-
-
-
-
4Gain-
WFDC9-
-
-
-
4Gain-
WFS1-
-
-
-
1Loss-
WHAMM-
-
-
-
1Loss-
WISP1-
-
-
-
6Amp-
WISP2-
-
-
-
6Amp-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT4-
-
-
-
0Del-
WNT5A-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WNT8A-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WRAP73-
-
-
-
1Loss-
WRN-
-
-
-
0Del-
WRNIP1-
-
-
-
3Gain-
WT1-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
3Gain-
WWOX-
-
-
-
1Loss-
WWP1-
-
-
-
6Amp-
WWP2-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XIRP2p.E953*
Nonsense
SNP
0.366
2--
XKR3-
-
-
-
1Loss-
XKR4-
-
-
-
6Amp-
XKR5-
-
-
-
0Del-
XKR6-
-
-
-
0Del-
XKR7-
-
-
-
3Gain-
XKR9-
-
-
-
6Amp-
XPC-
-
-
-
1Loss-
XPNPEP3-
-
-
-
1Loss-
XPO5-
-
-
-
3Gain-
XPO7-
-
-
-
0Del-
XPR1-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRCC3-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
XRN2-
-
-
-
4Gain-
XYLB-
-
-
-
1Loss-
YBEY-
-
-
-
4Gain-
YDJC-
-
-
-
1Loss-
YIPF3-
-
-
-
3Gain-
YIPF5-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YPEL1-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YTHDF1-
-
-
-
3Gain-
YTHDF3-
-
-
-
6Amp-
YWHAB-
-
-
-
6Amp-
YWHAG-
-
-
-
3Gain-
YWHAH-
-
-
-
1Loss-
YWHAZ-
-
-
-
6Amp-
YY1-
-
-
-
1Loss-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZAN-
-
-
-
3Gain-
ZBED3-
-
-
-
1Loss-
ZBED4-
-
-
-
1Loss-
ZBED5-
-
-
-
1Loss-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBED9-
-
-
-
3Gain-
ZBP1-
-
-
-
10Amp-
ZBTB1-
-
-
-
1Loss-
ZBTB10-
-
-
-
6Amp-
ZBTB12-
-
-
-
3Gain-
ZBTB17-
-
-
-
1Loss-
ZBTB22-
-
-
-
3Gain-
ZBTB25-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
1Loss-
ZBTB44-
-
-
-
3Gain-
ZBTB46-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZBTB49-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZBTB9-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
6Amp-
ZC2HC1C-
-
-
-
1Loss-
ZC3H14-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZC3H3-
-
-
-
3Gain-
ZC3H7B-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24-
-
-
-
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCCHC9-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZCWPW2-
-
-
-
1Loss-
ZDHHC1-
-
-
-
1Loss-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC2-
-
-
-
0Del-
ZDHHC22-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZFAND1-
-
-
-
6Amp-
ZFAND3-
-
-
-
3Gain-
ZFAND4p.A402P
Missense
DNP
0.300
2--
ZFAND6-
-
-
-
1Loss-
ZFAT-
-
-
-
6Amp-
ZFHX3-
-
-
-
1Loss-
ZFHX4-
-
-
-
6Amp-
ZFP1-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFP42-
-
-
-
3Gain-
ZFP57-
-
-
-
3Gain-
ZFP64-
-
-
-
5Amp-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFPM2-
-
-
-
6Amp-
ZFR-
-
-
-
1Loss-
ZFYVE1-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZFYVE28-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZGRF1-
-
-
-
3Gain-
ZHX1-
-
-
-
6Amp-
ZHX1-C8orf76-
-
-
-
6Amp-
ZHX2-
-
-
-
6Amp-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN3-
-
-
-
3Gain-
ZKSCAN4-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZKSCAN8-
-
-
-
3Gain-
ZMAT2-
-
-
-
1Loss-
ZMAT4-
-
-
-
3Gain-
ZMAT5-
-
-
-
1Loss-
ZMIZ1-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND8-
-
-
-
5Amp-
ZNF106-
-
-
-
1Loss-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF131-
-
-
-
1Loss-
ZNF133-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF141-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF16-
-
-
-
3Gain-
ZNF165-
-
-
-
3Gain-
ZNF184-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF217-
-
-
-
7Amp-
ZNF23-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF280D-
-
-
-
1Loss-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF300-
-
-
-
1Loss-
ZNF311-
-
-
-
3Gain-
ZNF318-
-
-
-
3Gain-
ZNF319-
-
-
-
1Loss-
ZNF322-
-
-
-
3Gain-
ZNF330-
-
-
-
3Gain-
ZNF334-
-
-
-
4Gain-
ZNF335-
-
-
-
4Gain-
ZNF337-
-
-
-
3Gain-
ZNF33A-
-
-
-
1Loss-
ZNF34-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF343-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF391-
-
-
-
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF395-
-
-
-
0Del-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF398-
-
-
-
3Gain-
ZNF407-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF438-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF451-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF503-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF518A-
-
-
-
1Loss-
ZNF518B-
-
-
-
1Loss-
ZNF521-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF572-
-
-
-
6Amp-
ZNF589-
-
-
-
1Loss-
ZNF592-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF596-
-
-
-
0Del-
ZNF608-
-
-
-
1Loss-
ZNF609-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF622-
-
-
-
1Loss-
ZNF623-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF70-
-
-
-
1Loss-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
6Amp-
ZNF706-
-
-
-
6Amp-
ZNF707-
-
-
-
3Gain-
ZNF710-
-
-
-
1Loss-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF732-
-
-
-
1Loss-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF74-
-
-
-
1Loss-
ZNF746-
-
-
-
3Gain-
ZNF76-
-
-
-
3Gain-
ZNF770-
-
-
-
1Loss-
ZNF774-
-
-
-
1Loss-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF821-
-
-
-
1Loss-
ZNF827-
-
-
-
3Gain-
ZNF831-
-
-
-
1Loss-
ZNF839-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF862-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNFX1-
-
-
-
5Amp-
ZNHIT1-
-
-
-
3Gain-
ZNRD1-
-
-
-
3Gain-
ZNRF1-
-
-
-
1Loss-
ZNRF3-
-
-
-
1Loss-
ZP3-
-
-
-
3Gain-
ZPBP2-
-
-
-
5Amp-
ZRANB1-
-
-
-
1Loss-
ZSCAN12-
-
-
-
3Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN2-
-
-
-
1Loss-
ZSCAN21-
-
-
-
3Gain-
ZSCAN23-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN26-
-
-
-
3Gain-
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSCAN31-
-
-
-
3Gain-
ZSCAN9-
-
-
-
3Gain-
ZSWIM1-
-
-
-
4Gain-
ZSWIM3-
-
-
-
4Gain-
ZSWIM6-
-
-
-
1Loss-
ZSWIM8-
-
-
-
1Loss-
ZWILCH-
-
-
-
1Loss-
ZWINT-
-
-
-
3Gain-
ZXDBp.T78P
p.D79H
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
ZYX-
-
-
-
3Gain-