PDMR-592484~111-B~E5P-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A1CF-
-
-
-
3Gain-
AAMP-
-
-
-
3Gain-
AARD-
-
-
-
5Amp-
AASDHPPT-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
ABCA12-
-
-
-
3Gain-
ABCA13-
-
-
-
3Gain-
ABCA7-
-
-
-
3Gain-
ABCB10-
-
-
-
3Gain-
ABCB11-
-
-
-
3Gain-
ABCB5-
-
-
-
4Gain-
ABCB6-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC4-
-
-
-
3Gain-
ABCD4-
-
-
-
5Amp-
ABCF2-
-
-
-
3Gain-
ABCG4-
-
-
-
1Loss-
ABHD12B-
-
-
-
5Amp-
ABHD13-
-
-
-
3Gain-
ABHD16B-
-
-
-
4Gain-
ABHD17A-
-
-
-
3Gain-
ABHD4-
-
-
-
5Amp-
ABHD8-
-
-
-
4Gain-
ABI1-
-
-
-
3Gain-
ABI2-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
ABRA-
-
-
-
5Amp-
AC001226.2-
-
-
-
3Gain-
AC002985.1-
-
-
-
4Gain-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
4Gain-
AC004593.3-
-
-
-
4Gain-
AC004691.2-
-
-
-
4Gain-
AC005154.5-
-
-
-
4Gain-
AC005258.1-
-
-
-
3Gain-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
5Amp-
AC005943.1-
-
-
-
3Gain-
AC006538.2-
-
-
-
3Gain-
AC006978.2-
-
-
-
4Gain-
AC007192.1-
-
-
-
4Gain-
AC007375.1-
-
-
-
5Amp-
AC008397.2-
-
-
-
4Gain-
AC008537.1-
-
-
-
10Amp-
AC008581.2-
-
-
-
3Gain-
AC008758.1-
-
-
-
3Gain-
AC008758.4-
-
-
-
3Gain-
AC008758.5-
-
-
-
3Gain-
AC008758.6-
-
-
-
3Gain-
AC008764.1-
-
-
-
4Gain-
AC008764.4-
-
-
-
4Gain-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008982.1-
-
-
-
6Amp-
AC009336.2-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
4Gain-
AC010319.2-
-
-
-
4Gain-
AC010326.2-
-
-
-
1Loss-
AC010422.3-
-
-
-
3Gain-
AC010422.5-
-
-
-
5Amp-
AC010422.6-
-
-
-
3Gain-
AC010422.8-
-
-
-
5Amp-
AC010463.1-
-
-
-
4Gain-
AC010522.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
3Gain-
AC010646.1-
-
-
-
4Gain-
AC011005.1-
-
-
-
3Gain-
AC011448.1-
-
-
-
4Gain-
AC011455.2-
-
-
-
6Amp-
AC011479.1-
-
-
-
6Amp-
AC011498.4-
-
-
-
4Gain-
AC012213.5-
-
-
-
5Amp-
AC012309.1-
-
-
-
3Gain-
AC018709.1-
-
-
-
4Gain-
AC019117.2-
-
-
-
4Gain-
AC020907.6-
-
-
-
7Amp-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022400.6-
-
-
-
4Gain-
AC022414.1-
-
-
-
3Gain-
AC022826.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
1Loss-
AC068547.1-
-
-
-
3Gain-
AC068896.1-
-
-
-
4Gain-
AC068946.1-
-
-
-
3Gain-
AC068946.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC079447.1-
-
-
-
6Amp-
AC090360.1-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092073.1-
-
-
-
7Amp-
AC092329.3-
-
-
-
3Gain-
AC092442.1-
-
-
-
1Loss-
AC092587.1-
-
-
-
6Amp-
AC092647.5-
-
-
-
3Gain-
AC092835.1-
-
-
-
5Amp-
AC093227.2-
-
-
-
6Amp-
AC093323.1-
-
-
-
1Loss-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC093899.2-
-
-
-
3Gain-
AC100868.1-
-
-
-
8Amp-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC108941.2-
-
-
-
3Gain-
AC110275.1-
-
-
-
1Loss-
AC115220.1-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
8Amp-
AC138696.1-
-
-
-
8Amp-
AC187653.1-
-
-
-
4Gain-
AC243547.3-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACADL-
-
-
-
3Gain-
ACAT1-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD5-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACBD7-
-
-
-
3Gain-
ACIN1-
-
-
-
5Amp-
ACKR1-
-
-
-
3Gain-
ACKR3-
-
-
-
3Gain-
ACMSD-
-
-
-
3Gain-
ACOD1-
-
-
-
3Gain-
ACOT1-
-
-
-
5Amp-
ACOT12-
-
-
-
3Gain-
ACOT2-
-
-
-
5Amp-
ACOT4-
-
-
-
5Amp-
ACOT6-
-
-
-
5Amp-
ACP7-
-
-
-
6Amp-
ACRV1-
-
-
-
1Loss-
ACSL1-
-
-
-
4Gain-
ACSL3-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTB-
-
-
-
4Gain-
ACTBL2-
-
-
-
3Gain-
ACTL10-
-
-
-
3Gain-
ACTN1-
-
-
-
5Amp-
ACTN4-
-
-
-
6Amp-
ACTR10-
-
-
-
5Amp-
ACTR1B-
-
-
-
6Amp-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACVR1-
-
-
-
3Gain-
ACVR1C-
-
-
-
3Gain-
ACVR2A-
-
-
-
3Gain-
ACYP1-
-
-
-
5Amp-
AD000671.1-
-
-
-
7Amp-
AD000671.2-
-
-
-
7Amp-
ADAM15-
-
-
-
3Gain-
ADAM20-
-
-
-
5Amp-
ADAM21-
-
-
-
5Amp-
ADAM23-
-
-
-
3Gain-
ADAM30-
-
-
-
3Gain-
ADAMTS12-
-
-
-
3Gain-
ADAMTS14-
-
-
-
4Gain-
ADAMTS15-
-
-
-
1Loss-
ADAMTS16-
-
-
-
3Gain-
ADAMTS19p.E719K
Missense
SNP
0.466
2--
ADAMTS3-
-
-
-
3Gain-
ADAMTS4-
-
-
-
3Gain-
ADAMTS6-
-
-
-
3Gain-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
3Gain-
ADAP1-
-
-
-
4Gain-
ADAR-
-
-
-
3Gain-
ADARB2-
-
-
-
3Gain-
ADAT3-
-
-
-
3Gain-
ADCK1-
-
-
-
5Amp-
ADCK2-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY2-
-
-
-
3Gain-
ADCY4-
-
-
-
5Amp-
ADCY8-
-
-
-
8Amp-
ADCYAP1R1-
-
-
-
4Gain-
ADD1-
-
-
-
1Loss-
ADGRB1-
-
-
-
8Amp-
ADGRB3-
-
-
-
3Gain-
ADGRE2-
-
-
-
3Gain-
ADGRE3-
-
-
-
3Gain-
ADGRE5-
-
-
-
5Amp-
ADGRL1-
-
-
-
5Amp-
ADHFE1-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
4Gain-
ADNP2-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADPRHL1-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRA2B-
-
-
-
6Amp-
ADRA2C-
-
-
-
1Loss-
ADRM1-
-
-
-
4Gain-
ADSSL1-
-
-
-
5Amp-
AEBP1-
-
-
-
4Gain-
AES-
-
-
-
3Gain-
AFF3-
-
-
-
6Amp-
AFM-
-
-
-
3Gain-
AFP-
-
-
-
3Gain-
AGAP1-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGFG1-
-
-
-
3Gain-
AGGF1-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGMO-
-
-
-
4Gain-
AGO2-
-
-
-
8Amp-
AGPS-
-
-
-
3Gain-
AGR2-
-
-
-
4Gain-
AGR3-
-
-
-
4Gain-
AGT-
-
-
-
3Gain-
AGXT-
-
-
-
1Loss-
AGXT2-
-
-
-
3Gain-
AHCY-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHNAK2-
-
-
-
5Amp-
AHR-
-
-
-
4Gain-
AHRR-
-
-
-
3Gain-
AHSA1-
-
-
-
5Amp-
AIDA-
-
-
-
3Gain-
AIFM2-
-
-
-
4Gain-
AIM2-
-
-
-
3Gain-
AIMP2-
-
-
-
4Gain-
AJUBA-
-
-
-
5Amp-
AK6-
-
-
-
3Gain-
AK7-
-
-
-
5Amp-
AKAP11-
-
-
-
3Gain-
AKAP5-
-
-
-
5Amp-
AKAP6-
-
-
-
5Amp-
AKAP8-
-
-
-
3Gain-
AKAP8L-
-
-
-
3Gain-
AKIRIN2-
-
-
-
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C1-
-
-
-
3Gain-
AKR1C2-
-
-
-
3Gain-
AKR1C3-
-
-
-
3Gain-
AKR1C4-
-
-
-
3Gain-
AKR1C8P-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKR1E2-
-
-
-
3Gain-
AKT1-
-
-
-
5Amp-
AKT2-
-
-
-
10Amp-
AL049697.1-
-
-
-
3Gain-
AL049779.1-
-
-
-
5Amp-
AL049839.2-
-
-
-
5Amp-
AL096870.1-
-
-
-
5Amp-
AL109827.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
5Amp-
AL117339.5-
-
-
-
3Gain-
AL117348.2-
-
-
-
3Gain-
AL121594.1-
-
-
-
5Amp-
AL121753.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
4Gain-
AL121845.3-
-
-
-
4Gain-
AL132780.3-
-
-
-
5Amp-
AL136295.1-
-
-
-
5Amp-
AL136295.3-
-
-
-
5Amp-
AL136295.4-
-
-
-
5Amp-
AL136295.5-
-
-
-
5Amp-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
5Amp-
AL139353.1-
-
-
-
5Amp-
AL157392.5-
-
-
-
3Gain-
AL162377.3-
-
-
-
3Gain-
AL163195.3-
-
-
-
5Amp-
AL163636.2-
-
-
-
5Amp-
AL355102.2-
-
-
-
5Amp-
AL355916.2-
-
-
-
5Amp-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
3Gain-
AL365232.1-
-
-
-
3Gain-
AL445238.1-
-
-
-
4Gain-
AL445989.1-
-
-
-
4Gain-
AL512506.3-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL589666.1-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL845331.2-
-
-
-
5Amp-
AL928654.3-
-
-
-
5Amp-
ALB-
-
-
-
3Gain-
ALDH6A1-
-
-
-
5Amp-
ALDH9A1-
-
-
-
3Gain-
ALG11-
-
-
-
3Gain-
ALG5-
-
-
-
3Gain-
ALG9-
-
-
-
1Loss-
ALKBH1-
-
-
-
5Amp-
ALKBH4-
-
-
-
3Gain-
ALKBH6-
-
-
-
7Amp-
ALKBH8-
-
-
-
1Loss-
ALOX5-
-
-
-
3Gain-
ALOX5AP-
-
-
-
3Gain-
ALPG-
-
-
-
3Gain-
ALPI-
-
-
-
3Gain-
ALPK2-
-
-
-
1Loss-
ALPP-
-
-
-
3Gain-
ALS2-
-
-
-
3Gain-
ALS2CR12-
-
-
-
3Gain-
AMACR-
-
-
-
3Gain-
AMBN-
-
-
-
3Gain-
AMER2-
-
-
-
3Gain-
AMER3-
-
-
-
3Gain-
AMH-
-
-
-
3Gain-
AMN-
-
-
-
5Amp-
AMPH-
-
-
-
4Gain-
AMTN-
-
-
-
3Gain-
AMZ1-
-
-
-
4Gain-
ANAPC16-
-
-
-
4Gain-
ANG-
-
-
-
5Amp-
ANGEL1-
-
-
-
5Amp-
ANGEL2-
-
-
-
3Gain-
ANGPT1-
-
-
-
5Amp-
ANGPTL1-
-
-
-
3Gain-
ANGPTL5-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANKAR-
-
-
-
3Gain-
ANKH-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKLE1-
-
-
-
4Gain-
ANKMY1-
-
-
-
3Gain-
ANKMY2-
-
-
-
4Gain-
ANKRA2-
-
-
-
3Gain-
ANKRD1-
-
-
-
3Gain-
ANKRD10-
-
-
-
3Gain-
ANKRD16-
-
-
-
3Gain-
ANKRD17-
-
-
-
3Gain-
ANKRD23-
-
-
-
6Amp-
ANKRD24-
-
-
-
4Gain-
ANKRD26-
-
-
-
3Gain-
ANKRD27-
-
-
-
7Amp-
ANKRD30A-
-
-
-
3Gain-
ANKRD30BL-
-
-
-
3Gain-
ANKRD33B-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD36-
-
-
-
6Amp-
ANKRD36B-
-
-
-
6Amp-
ANKRD36C-
-
-
-
5Amp-
ANKRD37-
-
-
-
4Gain-
ANKRD39-
-
-
-
6Amp-
ANKRD44-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
5Amp-
ANKRD55-
-
-
-
3Gain-
ANKRD60-
-
-
-
6Amp-
ANKRD61-
-
-
-
4Gain-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
5Amp-
ANKZF1-
-
-
-
3Gain-
ANLN-
-
-
-
4Gain-
ANO7-
-
-
-
1Loss-
ANO8p.E671Q
Missense
SNP
0.251
4Gain-
ANP32E-
-
-
-
3Gain-
ANTXR2-
-
-
-
3Gain-
ANTXRL-
-
-
-
3Gain-
ANXA13-
-
-
-
3Gain-
ANXA2R-
-
-
-
3Gain-
ANXA3-
-
-
-
3Gain-
ANXA7-
-
-
-
4Gain-
ANXA8-
-
-
-
3Gain-
ANXA8L1-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
4Gain-
AOC1-
-
-
-
3Gain-
AOX1-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP001803.1-
-
-
-
NDNDAP001803.1--GNAS
AP002373.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP1G2-
-
-
-
5Amp-
AP1M1-
-
-
-
3Gain-
AP1S3-
-
-
-
3Gain-
AP3B1-
-
-
-
3Gain-
AP3D1-
-
-
-
3Gain-
AP3M1-
-
-
-
4Gain-
AP3M2-
-
-
-
1Loss-
AP4S1-
-
-
-
5Amp-
AP5M1p.A175D
Missense
SNP
0.137
5Amp-
AP5Z1-
-
-
-
4Gain-
APBA3-
-
-
-
4Gain-
APBB1IP-
-
-
-
3Gain-
APC2-
-
-
-
3Gain-
APCDD1L-
-
-
-
6Amp-
APCS-
-
-
-
3Gain-
APEX1-
-
-
-
5Amp-
APH1A-
-
-
-
3Gain-
APLP1-
-
-
-
7Amp-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOC3-
-
-
-
1Loss-
APOPT1-
-
-
-
5Amp-
AQP1-
-
-
-
4Gain-
AQP10-
-
-
-
3Gain-
AQP12A-
-
-
-
3Gain-
AQP12B-
-
-
-
3Gain-
ARC-
-
-
-
8Amp-
ARCN1-
-
-
-
1Loss-
AREG-
-
-
-
3Gain-
AREL1-
-
-
-
5Amp-
ARF1-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARF6-
-
-
-
5Amp-
ARFGAP1-
-
-
-
4Gain-
ARFGEF1-
-
-
-
3Gain-
ARFRP1-
-
-
-
4Gain-
ARG2-
-
-
-
5Amp-
ARGLU1-
-
-
-
3Gain-
ARHGAP12-
-
-
-
3Gain-
ARHGAP15-
-
-
-
3Gain-
ARHGAP20-
-
-
-
1Loss-
ARHGAP21-
-
-
-
3Gain-
ARHGAP22-
-
-
-
3Gain-
ARHGAP30-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP33-
-
-
-
7Amp-
ARHGAP42-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
3Gain-
ARHGAP5-
-
-
-
5Amp-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF28-
-
-
-
3Gain-
ARHGEF4-
-
-
-
3Gain-
ARHGEF40-
-
-
-
5Amp-
ARHGEF5-
-
-
-
3Gain-
ARHGEF7-
-
-
-
3Gain-
ARID3A-
-
-
-
3Gain-
ARID4A-
-
-
-
5Amp-
ARID5A-
-
-
-
6Amp-
ARL11-
-
-
-
3Gain-
ARL15-
-
-
-
3Gain-
ARL17A-
-
-
-
2-ARL17A--KANSL1
ARL4A-
-
-
-
4Gain-
ARL4C-
-
-
-
3Gain-
ARL5A-
-
-
-
3Gain-
ARL5B-
-
-
-
3Gain-
ARL6IP6-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARMC1-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARMC3-
-
-
-
3Gain-
ARMC4-
-
-
-
3Gain-
ARMC6-
-
-
-
4Gain-
ARMC9-
-
-
-
3Gain-
ARMH4-
-
-
-
5Amp-
ARNT-
-
-
-
3Gain-
ARPC2-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARRDC2-
-
-
-
4Gain-
ARSB-
-
-
-
3Gain-
ART3-
-
-
-
3GainNUP54--ART3
ARV1-
-
-
-
3Gain-
ASAH2-
-
-
-
3Gain-
ASAH2B-
-
-
-
3Gain-
ASAP1-
-
-
-
8Amp-
ASB1-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB13-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB18-
-
-
-
3Gain-
ASB2-
-
-
-
5Amp-
ASCC1-
-
-
-
4Gain-
ASF1B-
-
-
-
5Amp-
ASH1L-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASIC4-
-
-
-
3Gain-
ASIP-
-
-
-
3Gain-
ASNA1-
-
-
-
5Amp-
ASNSD1-
-
-
-
3Gain-
ASPG-
-
-
-
5Amp-
ASPH-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASTL-
-
-
-
6Amp-
ASTN1-
-
-
-
3Gain-
ASXL1-
-
-
-
3Gain-
ASZ1-
-
-
-
3Gain-
ATAD1-
-
-
-
1Loss-
ATAD2-
-
-
-
3Gain-
ATCAY-
-
-
-
4Gain-
ATF2-
-
-
-
3Gain-
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATG10-
-
-
-
3Gain-
ATG14-
-
-
-
5Amp-
ATG16L1-
-
-
-
3Gain-
ATG2B-
-
-
-
5Amp-
ATG4B-
-
-
-
1Loss-
ATG9A-
-
-
-
3Gain-
ATG9B-
-
-
-
3Gain-
ATIC-
-
-
-
3Gain-
ATL1-
-
-
-
5Amp-
ATM-
-
-
-
1Loss-
ATN1p.Q1139*
Nonsense
SNP
0.443
2--
ATP11A-
-
-
-
5Amp-
ATP12A-
-
-
-
3Gain-
ATP13A1-
-
-
-
4Gain-
ATP1A1-
-
-
-
3Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP4A-
-
-
-
7Amp-
ATP4B-
-
-
-
3Gain-
ATP5F1C-
-
-
-
3Gain-
ATP5F1D-
-
-
-
3Gain-
ATP5F1E-
-
-
-
6Amp-
ATP5IF1-
-
-
-
3Gain-
ATP5MC3-
-
-
-
3Gain-
ATP5ME-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5MPL-
-
-
-
5Amp-
ATP5S-
-
-
-
5Amp-
ATP6AP1L-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
5Amp-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
5Amp-
ATP6V1D-
-
-
-
5Amp-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP7B-
-
-
-
3Gain-
ATP8A2-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
3Gain-
ATP9B-
-
-
-
1Loss-
ATXN3-
-
-
-
5Amp-
ATXN7L1-
-
-
-
3Gain-
AURKA-
-
-
-
3Gain-
AURKC-
-
-
-
1Loss-
AVL9-
-
-
-
4Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AZIN1-
-
-
-
5Amp-
AZU1-
-
-
-
3Gain-
B3GALT1-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
3Gain-
B3GLCT-
-
-
-
3Gain-
B3GNT3-
-
-
-
4Gain-
B3GNT7-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
BAALC-
-
-
-
5Amp-
BABAM1-
-
-
-
4Gain-
BACE1-
-
-
-
1Loss-
BAG5-
-
-
-
5Amp-
BAMBI-
-
-
-
3Gain-
BARD1-
-
-
-
3Gain-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BATF-
-
-
-
5Amp-
BATF3-
-
-
-
3Gain-
BAZ1A-
-
-
-
5Amp-
BAZ2B-
-
-
-
3Gain-
BBOF1-
-
-
-
5Amp-
BBS5-
-
-
-
3Gain-
BBS9-
-
-
-
4Gain-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAS1-
-
-
-
3Gain-
BCKDHB-
-
-
-
3Gain-
BCL11B-
-
-
-
5Amp-
BCL2-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L2-
-
-
-
5Amp-
BCL2L2-PABPN1-
-
-
-
5Amp-
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BCS1L-
-
-
-
3Gain-
BDKRB1p.V181I
Missense
SNP
0.383
5Amp-
BDKRB2-
-
-
-
5Amp-
BDP1-
-
-
-
3Gain-
BEGAIN-
-
-
-
5Amp-
BEND7-
-
-
-
3Gain-
BEST2-
-
-
-
5Amp-
BGLAP-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
4Gain-
BHMT-
-
-
-
3Gain-
BHMT2-
-
-
-
3Gain-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BIRC7-
-
-
-
4Gain-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLID-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLVRA-
-
-
-
4Gain-
BLVRB-
-
-
-
10Amp-
BLZF1-
-
-
-
3Gain-
BMI1-
-
-
-
3Gain-
BMP2K-
-
-
-
3Gain-
BMP3-
-
-
-
3Gain-
BMP4-
-
-
-
5Amp-
BMP7-
-
-
-
3Gain-
BMPER-
-
-
-
4Gain-
BMPR1A-
-
-
-
1Loss-
BMPR2-
-
-
-
3Gain-
BMS1-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNIPL-
-
-
-
3Gain-
BOK-
-
-
-
1Loss-
BOLL-
-
-
-
3Gain-
BORA-
-
-
-
3Gain-
BORCS8-
-
-
-
4Gain-
BORCS8-MEF2B-
-
-
-
4Gain-
BPGM-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BRAF-
-
-
-
3Gain-
BRAT1-
-
-
-
4Gain-
BRCA2p.K3267N
Missense
SNP
0.271
3Gain-
BRD4-
-
-
-
3Gain-
BRD9-
-
-
-
3Gain-
BRF1-
-
-
-
5Amp-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BRMS1L-
-
-
-
5Amp-
BROX-
-
-
-
3Gain-
BSG-
-
-
-
3Gain-
BST2-
-
-
-
4Gain-
BSX-
-
-
-
1Loss-
BTBD2-
-
-
-
3Gain-
BTBD6-
-
-
-
5Amp-
BTBD7-
-
-
-
5Amp-
BTC-
-
-
-
3Gain-
BTF3-
-
-
-
3Gain-
BTG2-
-
-
-
3Gain-
BTG4-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
BZW1-
-
-
-
3Gain-
BZW2-
-
-
-
4Gain-
C10orf105-
-
-
-
4Gain-
C10orf113-
-
-
-
3Gain-
C10orf53-
-
-
-
3Gain-
C10orf55-
-
-
-
4Gain-
C10orf67-
-
-
-
3Gain-
C10orf71-
-
-
-
3Gain-
C11orf1-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C14orf119-
-
-
-
5Amp-
C14orf132-
-
-
-
5Amp-
C14orf177-
-
-
-
5Amp-
C14orf178-
-
-
-
5Amp-
C14orf180-
-
-
-
5Amp-
C14orf28-
-
-
-
5Amp-
C14orf39-
-
-
-
5Amp-
C14orf93-
-
-
-
5Amp-
C18orf63-
-
-
-
1Loss-
C19orf12-
-
-
-
3Gain-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
3Gain-
C19orf25-
-
-
-
3Gain-
C19orf33-
-
-
-
6Amp-
C19orf44-
-
-
-
4Gain-
C19orf47-
-
-
-
10Amp-
C19orf53-
-
-
-
5Amp-
C19orf54-
-
-
-
10Amp-
C19orf57-
-
-
-
5Amp-
C19orf67-
-
-
-
5Amp-
C19orf71-
-
-
-
3Gain-
C1GALT1-
-
-
-
4Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QL3-
-
-
-
3Gain-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF5-
-
-
-
1Loss-
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
4Gain-
C20orf85-
-
-
-
6Amp-
C2CD2L-
-
-
-
1Loss-
C2CD4C-
-
-
-
3Gain-
C2CD4D-
-
-
-
3Gain-
C2CD6-
-
-
-
3Gain-
C2orf15-
-
-
-
6Amp-
C2orf40-
-
-
-
5Amp-
C2orf49-
-
-
-
5Amp-
C2orf66-
-
-
-
3Gain-
C2orf69-
-
-
-
3Gain-
C2orf72-
-
-
-
3Gain-
C2orf80-
-
-
-
3Gain-
C2orf83-
-
-
-
3Gain-
C2orf88-
-
-
-
3Gain-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf47-
-
-
-
4Gain-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf67-
-
-
-
3Gain-
C6-
-
-
-
3Gain-
C6orf163-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C7orf25-
-
-
-
4Gain-
C7orf26-
-
-
-
4Gain-
C7orf31-
-
-
-
4Gain-
C7orf33-
-
-
-
3Gain-
C7orf50-
-
-
-
4Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
5Amp-
C8orf44-
-
-
-
3Gain-
C8orf59-
-
-
-
5Amp-
C8orf76-
-
-
-
5Amp-
C8orf88-
-
-
-
5Amp-
C8orf89-
-
-
-
3Gain-
C9-
-
-
-
5Amp-
CA1-
-
-
-
5Amp-
CA13-
-
-
-
5Amp-
CA14-
-
-
-
3Gain-
CA2-
-
-
-
5Amp-
CA3-
-
-
-
5Amp-
CA8-
-
-
-
3Gain-
CAB39-
-
-
-
3Gain-
CAB39L-
-
-
-
3Gain-
CABLES2-
-
-
-
4Gain-
CABS1-
-
-
-
3Gain-
CACNA1A-
-
-
-
5Amp-
CACNA1E-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNB2-
-
-
-
3Gain-
CACNB4-
-
-
-
3Gain-
CACTIN-
-
-
-
3Gain-
CACYBP-
-
-
-
3Gain-
CADM1-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALB1-
-
-
-
5Amp-
CALCRL-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALM1-
-
-
-
5Amp-
CALML3-
-
-
-
3Gain-
CALML5-
-
-
-
3Gain-
CALR-
-
-
-
5Amp-
CALR3-
-
-
-
4Gain-
CALU-
-
-
-
3Gain-
CAMK1D-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMK2B-
-
-
-
4Gain-
CAMK2G-
-
-
-
4Gain-
CAMSAP2-
-
-
-
3Gain-
CAPN10-
-
-
-
3Gain-
CAPN12-
-
-
-
6Amp-
CAPN2-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS1-
-
-
-
7Amp-
CAPSL-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CARD11-
-
-
-
4Gain-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARD6-
-
-
-
3Gain-
CARF-
-
-
-
3Gain-
CARMIL3-
-
-
-
5Amp-
CARS2-
-
-
-
3Gain-
CARTPT-
-
-
-
3Gain-
CASC10-
-
-
-
3Gain-
CASP1-
-
-
-
1Loss-
CASP10-
-
-
-
3Gain-
CASP12-
-
-
-
1Loss-
CASP14-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASP3-
-
-
-
4Gain-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP8-
-
-
-
3Gain-
CASQ1-
-
-
-
3Gain-
CASQ2-
-
-
-
3Gain-
CASS4-
-
-
-
3Gain-
CATIP-
-
-
-
3Gain-
CATSPERB-
-
-
-
5Amp-
CATSPERG-
-
-
-
6Amp-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAVIN2-
-
-
-
3Gain-
CBARP-
-
-
-
3Gain-
CBFA2T2-
-
-
-
3Gain-
CBL-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
5Amp-
CBLN4-
-
-
-
3Gain-
CBX3-
-
-
-
4Gain-
CC2D1A-
-
-
-
5Amp-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105-
-
-
-
3Gain-
CCDC110-
-
-
-
4Gain-
CCDC115-
-
-
-
3Gain-
CCDC122-
-
-
-
3Gain-
CCDC124-
-
-
-
4Gain-
CCDC125-
-
-
-
3Gain-
CCDC126-
-
-
-
4Gain-
CCDC127-
-
-
-
3Gain-
CCDC130-
-
-
-
5Amp-
CCDC136-
-
-
-
3Gain-
CCDC138-
-
-
-
2-CCDC138--FER1L6
CCDC140-
-
-
-
3Gain-
CCDC141-
-
-
-
3Gain-
CCDC148-
-
-
-
3Gain-
CCDC15-
-
-
-
1Loss-
CCDC150-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC153-
-
-
-
1Loss-
CCDC158-
-
-
-
3Gain-
CCDC168-
-
-
-
3Gain-
CCDC169-
-
-
-
3Gain-
CCDC169-SOHLH2-
-
-
-
3Gain-
CCDC173-
-
-
-
3Gain-
CCDC175-
-
-
-
5Amp-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC194-
-
-
-
4Gain-
CCDC197-
-
-
-
5Amp-
CCDC198-
-
-
-
5Amp-
CCDC3-
-
-
-
3Gain-
CCDC7-
-
-
-
3Gain-
CCDC70-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC74A-
-
-
-
3Gain-
CCDC74B-
-
-
-
3Gain-
CCDC82-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85C-
-
-
-
5Amp-
CCDC88C-
-
-
-
5Amp-
CCDC96-
-
-
-
1Loss-
CCER2-
-
-
-
6Amp-
CCL20-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCM2-
-
-
-
4Gain-
CCM2L-
-
-
-
3Gain-
CCNA1-
-
-
-
3Gain-
CCNB1-
-
-
-
3Gain-
CCNB1IP1-
-
-
-
5Amp-
CCNE1-
-
-
-
3Gain-
CCNE2-
-
-
-
5Amp-
CCNG2-
-
-
-
3Gain-
CCNI-
-
-
-
3Gain-
CCNK-
-
-
-
5Amp-
CCNO-
-
-
-
3Gain-
CCNT2-
-
-
-
3Gain-
CCNY-
-
-
-
5Amp-
CCNYL1-
-
-
-
3Gain-
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CCT5-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
4Gain-
CCZ1B-
-
-
-
4Gain-
CD101-
-
-
-
3Gain-
CD109-
-
-
-
3Gain-
CD160-
-
-
-
3Gain-
CD180-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD2-
-
-
-
3Gain-
CD22-
-
-
-
7Amp-
CD226-
-
-
-
1Loss-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD28-
-
-
-
3Gain-
CD302-
-
-
-
3Gain-
CD34-
-
-
-
3Gain-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD58-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD84-
-
-
-
3Gain-
CDADC1-
-
-
-
3Gain-
CDC123-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC16-
-
-
-
3Gain-
CDC20B-
-
-
-
3Gain-
CDC34-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
5Amp-
CDC42SE1-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA4-
-
-
-
5Amp-
CDCA7-
-
-
-
3Gain-
CDCA7L-
-
-
-
4Gain-
CDH10-
-
-
-
5Amp-
CDH12-
-
-
-
6Amp-
CDH17-
-
-
-
5Amp-
CDH18-
-
-
-
6Amp-
CDH19-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH23-
-
-
-
4Gain-
CDH24-
-
-
-
5Amp-
CDH26-
-
-
-
6Amp-
CDH4-
-
-
-
4Gain-
CDH6-
-
-
-
5Amp-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
5Amp-
CDHR3-
-
-
-
3Gain-
CDK13-
-
-
-
4Gain-
CDK15-
-
-
-
3Gain-
CDK18-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK5R2-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
3Gain-
CDK7-
-
-
-
3Gain-
CDK8-
-
-
-
3Gain-
CDKL1-
-
-
-
5Amp-
CDKL2-
-
-
-
3Gain-
CDKN2AIP-
-
-
-
4Gain-
CDKN3-
-
-
-
5Amp-
CDNF-
-
-
-
3Gain-
CDON-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDX2-
-
-
-
3Gain-
CEBPA-
-
-
-
7Amp-
CEBPE-
-
-
-
5Amp-
CEBPG-
-
-
-
7Amp-
CELF2-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF5-
-
-
-
3Gain-
CELSR1p.Q1659H
Missense
SNP
0.532
2--
CENPC-
-
-
-
3Gain-
CENPF-
-
-
-
3Gain-
CENPH-
-
-
-
3Gain-
CENPJ-
-
-
-
3Gain-
CENPK-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPU-
-
-
-
4Gain-
CEP126-
-
-
-
1Loss-
CEP128-
-
-
-
5Amp-
CEP162-
-
-
-
3Gain-
CEP164-
-
-
-
1Loss-
CEP170B-
-
-
-
5Amp-
CEP250-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP57-
-
-
-
1Loss-
CEP72-
-
-
-
3Gain-
CEP89-
-
-
-
7Amp-
CERKL-
-
-
-
3Gain-
CERS1-
-
-
-
4Gain-
CERS2-
-
-
-
3Gain-
CERS6-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP206-
-
-
-
3Gain-
CFAP299-
-
-
-
3Gain-
CFAP300-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP65-
-
-
-
3Gain-
CFAP70-
-
-
-
4Gain-
CFAP97-
-
-
-
4Gain-
CFAP99-
-
-
-
1Loss-
CFC1-
-
-
-
3Gain-
CFC1B-
-
-
-
3Gain-
CFD-
-
-
-
3Gain-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFL2-
-
-
-
5Amp-
CFLAR-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGA-
-
-
-
3Gain-
CGAS-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CGRRF1-
-
-
-
5Amp-
CHAF1A-
-
-
-
4Gain-
CHAMP1-
-
-
-
3Gain-
CHAT-
-
-
-
3Gain-
CHCHD1-
-
-
-
4Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHD6-
-
-
-
4Gain-
CHD7-
-
-
-
3Gain-
CHD8-
-
-
-
5Amp-
CHEK1-
-
-
-
1Loss-
CHERP-
-
-
-
4Gain-
CHGA-
-
-
-
5Amp-
CHI3L1-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHMP2A-
-
-
-
1Loss-
CHMP4A-
-
-
-
5Amp-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
5Amp-
CHN1-
-
-
-
3Gain-
CHN2-
-
-
-
4Gain-
CHPF-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHRAC1-
-
-
-
8Amp-
CHRM2-
-
-
-
3Gain-
CHRNA1-
-
-
-
3Gain-
CHRNA4-
-
-
-
4Gain-
CHRNA6-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
1Loss-
CHRND-
-
-
-
3Gain-
CHRNG-
-
-
-
3Gain-
CHST10-
-
-
-
6Amp-
CHST12-
-
-
-
4Gain-
CHST15-
-
-
-
4Gain-
CHST3-
-
-
-
4Gain-
CHST8-
-
-
-
7Amp-
CHTOP-
-
-
-
3Gain-
CHURC1-
-
-
-
5Amp-
CHURC1-FNTB-
-
-
-
5Amp-
CIAO1-
-
-
-
6Amp-
CIART-
-
-
-
3Gain-
CIB3-
-
-
-
3Gain-
CIDEB-
-
-
-
5Amp-
CILP2-
-
-
-
4Gain-
CINP-
-
-
-
5Amp-
CIPC-
-
-
-
5Amp-
CIR1-
-
-
-
3Gain-
CIRBP-
-
-
-
3Gain-
CKAP2-
-
-
-
3Gain-
CKB-
-
-
-
5Amp-
CKS1B-
-
-
-
3Gain-
CLBA1-
-
-
-
5Amp-
CLC-
-
-
-
10Amp-
CLCN1-
-
-
-
3Gain-
CLDN10-
-
-
-
3Gain-
CLDN22-
-
-
-
4Gain-
CLDN24-
-
-
-
4Gain-
CLDN25-
-
-
-
1Loss-
CLEC14A-
-
-
-
5Amp-
CLEC17A-
-
-
-
3Gain-
CLEC18B-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC5A-
-
-
-
3Gain-
CLIP3-
-
-
-
7Amp-
CLK1-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLMN-
-
-
-
5Amp-
CLMP-
-
-
-
1Loss-
CLN5-
-
-
-
3Gain-
CLPTM1L-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CLYBL-
-
-
-
3Gain-
CMA1-
-
-
-
5Amp-
CMBL-
-
-
-
3Gain-
CMTM5-
-
-
-
5Amp-
CMYA5-
-
-
-
3Gain-
CNBD1-
-
-
-
5Amp-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA3-
-
-
-
6Amp-
CNGB3-
-
-
-
5Amp-
CNIH1-
-
-
-
5Amp-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNMD-
-
-
-
3Gain-
CNN2-
-
-
-
3Gain-
CNNM3-
-
-
-
6Amp-
CNNM4-
-
-
-
6Amp-
CNOT11-
-
-
-
6Amp-
CNOT4-
-
-
-
3Gain-
CNOT6L-
-
-
-
3Gain-
CNOT9-
-
-
-
3Gain-
CNPPD1-
-
-
-
3Gain-
CNPY1-
-
-
-
3Gain-
CNR1-
-
-
-
3Gain-
CNTD2-
-
-
-
10Amp-
CNTN2-
-
-
-
3Gain-
CNTN5-
-
-
-
1Loss-
CNTNAP2-
-
-
-
6Amp-
COA1-
-
-
-
4Gain-
COA5-
-
-
-
6Amp-
COBL-
-
-
-
3Gain-
COBLL1-
-
-
-
3Gain-
COCH-
-
-
-
5Amp-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
3Gain-
COG5-
-
-
-
3Gain-
COG6-
-
-
-
3Gain-
COL12A1-
-
-
-
3Gain-
COL13A1-
-
-
-
4Gain-
COL14A1-
-
-
-
5Amp-
COL19A1-
-
-
-
3Gain-
COL20A1-
-
-
-
4Gain-
COL22A1-
-
-
-
8Amp-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
4Gain-
COL3A1-
-
-
-
3Gain-
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL4A3-
-
-
-
3Gain-
COL4A4-
-
-
-
3Gain-
COL5A2-
-
-
-
3Gain-
COL6A3p.G2254A
Missense
SNP
0.335
3Gain-
COL8A2p.R372H
Missense
SNP
0.555
2--
COL9A1-
-
-
-
3Gain-
COL9A3-
-
-
-
4Gain-
COLCA2-
-
-
-
1Loss-
COLEC10-
-
-
-
5Amp-
COLGALT1-
-
-
-
4Gain-
COLGALT2-
-
-
-
3Gain-
COMMD3-
-
-
-
3Gain-
COMMD3-BMI1-
-
-
-
3Gain-
COMMD6-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COMP-
-
-
-
4Gain-
COMTD1-
-
-
-
4Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPE-
-
-
-
4Gain-
COPG2-
-
-
-
3Gain-
COPS5-
-
-
-
3Gain-
COPS7B-
-
-
-
3Gain-
COPS8-
-
-
-
3Gain-
COPS9-
-
-
-
3Gain-
COQ10B-
-
-
-
3Gain-
COQ6-
-
-
-
5Amp-
COQ8A-
-
-
-
3Gain-
COQ8B-
-
-
-
10Amp-
COX10-
-
-
-
1Loss-
COX16-
-
-
-
5Amp-
COX18-
-
-
-
3Gain-
COX19-
-
-
-
4Gain-
COX4I2-
-
-
-
3Gain-
COX5B-
-
-
-
6Amp-
COX6B1-
-
-
-
7Amp-
COX6C-
-
-
-
5Amp-
COX7A1-
-
-
-
7Amp-
COX7A2-
-
-
-
3Gain-
COX8C-
-
-
-
5Amp-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPAMD8-
-
-
-
4Gain-
CPB2-
-
-
-
3Gain-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
5Amp-
CPLX1-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPNE1-
-
-
-
3Gain-
CPNE3-
-
-
-
5Amp-
CPNE6-
-
-
-
5Amp-
CPO-
-
-
-
3Gain-
CPQ-
-
-
-
5Amp-
CPS1-
-
-
-
3Gain-
CPSF2-
-
-
-
5Amp-
CPVL-
-
-
-
4Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB3L3-
-
-
-
4Gain-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
4Gain-
CREG1-
-
-
-
3Gain-
CREG2-
-
-
-
6Amp-
CREM-
-
-
-
5Amp-
CRH-
-
-
-
3Gain-
CRHBP-
-
-
-
3Gain-
CRHR2-
-
-
-
4Gain-
CRIP1-
-
-
-
5Amp-
CRIP2-
-
-
-
5Amp-
CRISPLD1-
-
-
-
3Gain-
CRLF1-
-
-
-
4Gain-
CRMP1-
-
-
-
1Loss-
CRNKL1p.E6D
Missense
SNP
0.481
2--
CRNN-
-
-
-
3Gain-
CROCC2-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTAC1p.R178C
Missense
SNP
1.000
2--
CRTAM-
-
-
-
1Loss-
CRTC1-
-
-
-
4Gain-
CRTC2-
-
-
-
3Gain-
CRYAB-
-
-
-
1Loss-
CRYBA2-
-
-
-
3Gain-
CRYGA-
-
-
-
3Gain-
CRYGB-
-
-
-
3Gain-
CRYGC-
-
-
-
3Gain-
CRYGD-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CRYL1-
-
-
-
3Gain-
CSGALNACT2-
-
-
-
3Gain-
CSMD3-
-
-
-
6Amp-
CSN1S1-
-
-
-
3Gain-
CSN2-
-
-
-
3Gain-
CSN3-
-
-
-
3Gain-
CSNK1A1L-
-
-
-
3Gain-
CSNK1G2-
-
-
-
3Gain-
CSPP1-
-
-
-
3Gain-
CSRNP3-
-
-
-
3Gain-
CSRP1-
-
-
-
3Gain-
CSTF1-
-
-
-
3Gain-
CSTF2T-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTBP1-
-
-
-
1Loss-
CTCFL-
-
-
-
6Amp-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
3Gain-
CTHRC1-
-
-
-
5Amp-
CTLA4-
-
-
-
3Gain-
CTNND2-
-
-
-
3Gain-
CTSE-
-
-
-
3Gain-
CTSG-
-
-
-
5Amp-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSZ-
-
-
-
6Amp-
CTTNBP2-
-
-
-
3Gain-
CUBN-
-
-
-
3Gain-
CUL1-
-
-
-
3Gain-
CUL2-
-
-
-
5Amp-
CUL3-
-
-
-
3Gain-
CUL4A-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CUX1-
-
-
-
3Gain-
CWC22-
-
-
-
3Gain-
CWC27-
-
-
-
3Gain-
CWF19L2-
-
-
-
1Loss-
CXCL1-
-
-
-
3Gain-
CXCL10-
-
-
-
3Gain-
CXCL11-
-
-
-
3Gain-
CXCL12-
-
-
-
3Gain-
CXCL13-
-
-
-
3Gain-
CXCL2-
-
-
-
3Gain-
CXCL3-
-
-
-
3Gain-
CXCL5-
-
-
-
3Gain-
CXCL6-
-
-
-
3Gain-
CXCL8-
-
-
-
3Gain-
CXCL9-
-
-
-
3Gain-
CXCR1-
-
-
-
3Gain-
CXCR2-
-
-
-
3Gain-
CXCR4-
-
-
-
3Gain-
CXCR5-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R4-
-
-
-
3Gain-
CYBRD1-
-
-
-
3Gain-
CYCS-
-
-
-
4Gain-
CYP11B1-
-
-
-
8Amp-
CYP11B2-
-
-
-
8Amp-
CYP20A1-
-
-
-
3Gain-
CYP24A1-
-
-
-
3Gain-
CYP27A1-
-
-
-
3Gain-
CYP2A6-
-
-
-
10Amp-
CYP2W1-
-
-
-
4Gain-
CYP46A1-
-
-
-
5Amp-
CYP4F11-
-
-
-
3Gain-
CYP4F12-
-
-
-
3Gain-
CYP4F2-
-
-
-
3Gain-
CYP4F22-
-
-
-
3Gain-
CYP4F3-
-
-
-
3Gain-
CYP4F8-
-
-
-
3Gain-
CYP4V2-
-
-
-
4Gain-
CYP7B1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYSLTR2-
-
-
-
3Gain-
CYTH3-
-
-
-
4Gain-
CYTIP-
-
-
-
3Gain-
CYTL1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAAM1-
-
-
-
5Amp-
DAB2-
-
-
-
3Gain-
DACH1-
-
-
-
4Gain-
DACT1-
-
-
-
5Amp-
DAD1-
-
-
-
5Amp-
DAGLB-
-
-
-
4Gain-
DAND5-
-
-
-
5Amp-
DAOA-
-
-
-
3Gain-
DAP-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DAPK3-
-
-
-
4Gain-
DAPL1-
-
-
-
3Gain-
DARS-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DAW1-
-
-
-
3Gain-
DAXXp.S675Y
Missense
SNP
0.432
2--
DAZAP1-
-
-
-
3Gain-
DBNL-
-
-
-
4Gain-
DCAF11-
-
-
-
5Amp-
DCAF13-
-
-
-
5Amp-
DCAF15-
-
-
-
5Amp-
DCAF17-
-
-
-
3Gain-
DCAF4-
-
-
-
5Amp-
DCAF4L2-
-
-
-
5Amp-
DCAF5-
-
-
-
5Amp-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCANP1p.A154S
Missense
SNP
0.476
2--
DCK-
-
-
-
3Gain-
DCLK1-
-
-
-
3Gain-
DCLRE1C-
-
-
-
3Gain-
DCPS-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
5Amp-
DCT-
-
-
-
3Gain-
DCTD-
-
-
-
4Gain-
DCUN1D2p.D77H
Missense
SNP
0.336
3Gain-
DCUN1D5-
-
-
-
1Loss-
DDA1-
-
-
-
4Gain-
DDC-
-
-
-
3Gain-
DDHD1-
-
-
-
5Amp-
DDI1-
-
-
-
1Loss-
DDIT4-
-
-
-
4Gain-
DDR2-
-
-
-
3Gain-
DDX10-
-
-
-
1Loss-
DDX21-
-
-
-
4Gain-
DDX24-
-
-
-
5Amp-
DDX25-
-
-
-
1Loss-
DDX39A-
-
-
-
5Amp-
DDX4-
-
-
-
3Gain-
DDX43-
-
-
-
3Gain-
DDX49-
-
-
-
4Gain-
DDX50-
-
-
-
4Gain-
DDX56-
-
-
-
4Gain-
DDX59-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DECR1-
-
-
-
5Amp-
DEDD-
-
-
-
3Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
5Amp-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
8Amp-
DENND4B-
-
-
-
3Gain-
DEPDC1B-
-
-
-
3Gain-
DEPP1-
-
-
-
3Gain-
DEPTOR-
-
-
-
5Amp-
DERL1-
-
-
-
5Amp-
DES-
-
-
-
3Gain-
DGKB-
-
-
-
4Gain-
DGKD-
-
-
-
3Gain-
DGKH-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DGKQ-
-
-
-
1Loss-
DGLUCY-
-
-
-
5Amp-
DHODH-
-
-
-
1Loss-
DHPS-
-
-
-
5Amp-
DHRS1-
-
-
-
5Amp-
DHRS12-
-
-
-
3Gain-
DHRS13p.S111R
Missense
SNP
1.000
2--
DHRS2-
-
-
-
5Amp-
DHRS4-
-
-
-
5Amp-
DHRS4L2-
-
-
-
5Amp-
DHRS7-
-
-
-
5Amp-
DHRS7C-
-
-
-
1Loss-
DHRS9-
-
-
-
3Gain-
DHTKD1-
-
-
-
3Gain-
DHX29-
-
-
-
3Gain-
DHX35-
-
-
-
2-ZFP64--DHX35
DHX38-
-
-
-
1Loss-
DHX9-
-
-
-
3Gain-
DIAPH3-
-
-
-
3Gain-
DICER1-
-
-
-
5Amp-
DIDO1-
-
-
-
4Gain-
DIMT1-
-
-
-
3Gain-
DIO2-
-
-
-
5Amp-
DIO3-
-
-
-
5Amp-
DIP2Ap.E513Q
Missense
SNP
0.518
2--
DIP2C-
-
-
-
3Gain-
DIRAS1-
-
-
-
3Gain-
DIRC1-
-
-
-
3Gain-
DIS3-
-
-
-
3Gain-
DIS3L2-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP3p.E676K
Missense
SNP
0.479
2--
DIXDC1-
-
-
-
1Loss-
DKK1-
-
-
-
3Gain-
DKK4-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLEU7-
-
-
-
3Gain-
DLG5-
-
-
-
4Gain-
DLGAP5-
-
-
-
5Amp-
DLK1-
-
-
-
5Amp-
DLL3-
-
-
-
10Amp-
DLST-
-
-
-
5Amp-
DLX1-
-
-
-
3Gain-
DLX2-
-
-
-
3Gain-
DMGDH-
-
-
-
3Gain-
DMKN-
-
-
-
7Amp-
DNAAF2-
-
-
-
5Amp-
DNAAF5-
-
-
-
4Gain-
DNAH11-
-
-
-
4Gain-
DNAH14-
-
-
-
3Gain-
DNAH5-
-
-
-
3Gain-
DNAH7-
-
-
-
3Gain-
DNAH9p.D63N
Missense
SNP
0.636
1Loss-
DNAJB1-
-
-
-
3Gain-
DNAJB12-
-
-
-
4Gain-
DNAJB2-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC1-
-
-
-
3Gain-
DNAJC10-
-
-
-
3Gain-
DNAJC15-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC3-
-
-
-
3Gain-
DNAJC5-
-
-
-
4Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC8-
-
-
-
3Gain-
DNAJC9-
-
-
-
4Gain-
DNAL1-
-
-
-
5Amp-
DNASE2-
-
-
-
5Amp-
DNER-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DNMT3B-
-
-
-
3Gain-
DNPEP-
-
-
-
3Gain-
DOCK10-
-
-
-
3Gain-
DOCK4-
-
-
-
3Gain-
DOCK6p.E155Q
Missense
SNP
0.460
2--
DOCK9-
-
-
-
3Gain-
DOHH-
-
-
-
3Gain-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DOP1A-
-
-
-
3Gain-
DOT1L-
-
-
-
3Gain-
DPAGT1-
-
-
-
1Loss-
DPF1-
-
-
-
6Amp-
DPF3-
-
-
-
5Amp-
DPM3-
-
-
-
3Gain-
DPP4-
-
-
-
3Gain-
DPP6-
-
-
-
3Gain-
DPPA5-
-
-
-
3Gain-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
4Gain-
DPY19L3-
-
-
-
7Amp-
DPY19L4-
-
-
-
5Amp-
DPYS-
-
-
-
5Amp-
DRD2-
-
-
-
1Loss-
DRGX-
-
-
-
3Gain-
DROSHA-
-
-
-
5Amp-
DSCAML1-
-
-
-
1Loss-
DSCC1-
-
-
-
5Amp-
DSEL-
-
-
-
1Loss-
DSTYK-
-
-
-
3Gain-
DTD2-
-
-
-
5Amp-
DTHD1-
-
-
-
1Loss-
DTL-
-
-
-
3Gain-
DTYMK-
-
-
-
1Loss-
DUPD1-
-
-
-
4Gain-
DUS4L-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP13-
-
-
-
4Gain-
DUSP15-
-
-
-
3Gain-
DUSP19-
-
-
-
3Gain-
DUSP2-
-
-
-
6Amp-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP28-
-
-
-
3Gain-
DUXA-
-
-
-
1Loss-
DYNC1H1-
-
-
-
5Amp-
DYNC1I2-
-
-
-
3Gain-
DYNC2H1-
-
-
-
1Loss-
DYNLRB1-
-
-
-
3Gain-
DYRK1B-
-
-
-
10Amp-
DYRK3-
-
-
-
3Gain-
DYTN-
-
-
-
3Gain-
DZIP1-
-
-
-
3Gain-
E2F1-
-
-
-
3Gain-
E2F5-
-
-
-
5Amp-
EAPP-
-
-
-
5Amp-
EBAG9-
-
-
-
5Amp-
EBI3-
-
-
-
4Gain-
EBLN1-
-
-
-
3Gain-
EBPL-
-
-
-
3Gain-
ECD-
-
-
-
4Gain-
ECEL1-
-
-
-
3Gain-
ECH1-
-
-
-
6Amp-
ECHDC3-
-
-
-
3Gain-
ECM1-
-
-
-
3Gain-
EDDM3A-
-
-
-
5Amp-
EDDM3B-
-
-
-
5Amp-
EDEM2-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EDN3-
-
-
-
6Amp-
EDNRB-
-
-
-
3Gain-
EEF1A1-
-
-
-
3Gain-
EEF1A2-
-
-
-
4Gain-
EEF1AKMT1-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
4Gain-
EEF1B2-
-
-
-
3Gain-
EEF2-
-
-
-
4Gain-
EEPD1-
-
-
-
4Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB11-
-
-
-
5Amp-
EFCAB8-
-
-
-
3Gain-
EFHD1-
-
-
-
3Gain-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB2-
-
-
-
3Gain-
EFR3A-
-
-
-
8Amp-
EFS-
-
-
-
5Amp-
EGFLAM-
-
-
-
5Amp-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EGLN2-
-
-
-
10Amp-
EGLN3-
-
-
-
5Amp-
EI24-
-
-
-
1Loss-
EID2-
-
-
-
10Amp-
EID2B-
-
-
-
10Amp-
EIF2AK1-
-
-
-
4Gain-
EIF2B2-
-
-
-
5Amp-
EIF2D-
-
-
-
3Gain-
EIF2S1-
-
-
-
5Amp-
EIF2S2-
-
-
-
3Gain-
EIF3B-
-
-
-
4Gain-
EIF3E-
-
-
-
5Amp-
EIF3H-
-
-
-
5Amp-
EIF3K-
-
-
-
6Amp-
EIF4E2-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
4Gain-
EIF5-
-
-
-
5Amp-
EIF5B-
-
-
-
6Amp-
EIF6-
-
-
-
3Gain-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
3Gain-
ELF1-
-
-
-
3Gain-
ELF3-
-
-
-
3Gain-
ELFN1-
-
-
-
4Gain-
ELK4-
-
-
-
3Gain-
ELL-
-
-
-
4Gain-
ELMO1-
-
-
-
4Gain-
ELMOD1-
-
-
-
1Loss-
ELMSAN1-
-
-
-
5Amp-
ELOC-
-
-
-
3Gain-
ELOVL4-
-
-
-
3Gain-
ELOVL7-
-
-
-
3Gain-
ELP4p.I93V
Missense
SNP
1.000
2--
EMC2-
-
-
-
5Amp-
EMC9-
-
-
-
5Amp-
EMILIN3-
-
-
-
4Gain-
EML1-
-
-
-
5Amp-
EML5-
-
-
-
5Amp-
EN2-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENAM-
-
-
-
3Gain-
ENKUR-
-
-
-
3Gain-
ENOX1-
-
-
-
3Gain-
ENPP2-
-
-
-
5Amp-
ENPP6-
-
-
-
4Gain-
ENSA-
-
-
-
3Gain-
ENTPD5-
-
-
-
5Amp-
ENY2-
-
-
-
5Amp-
EPC1-
-
-
-
3Gain-
EPC2-
-
-
-
3Gain-
EPDR1-
-
-
-
4Gain-
EPGN-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPHX3-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
EPS15L1-
-
-
-
4Gain-
EPSTI1-
-
-
-
3Gain-
ERBB4-
-
-
-
3Gain-
ERBIN-
-
-
-
3Gain-
ERCC5-
-
-
-
3Gain-
ERCC6-
-
-
-
3Gain-
ERCC8-
-
-
-
3Gain-
EREG-
-
-
-
3Gain-
ERFE-
-
-
-
3Gain-
ERG28-
-
-
-
5Amp-
ERGIC3-
-
-
-
3Gain-
ERH-
-
-
-
5Amp-
ERICH2-
-
-
-
3Gain-
ERICH5-
-
-
-
5Amp-
ERICH6B-
-
-
-
3Gain-
ERMN-
-
-
-
3Gain-
ERO1A-
-
-
-
5Amp-
ESAM-
-
-
-
1Loss-
ESD-
-
-
-
3Gain-
ESM1-
-
-
-
3Gain-
ESPNL-
-
-
-
3Gain-
ESR2-
-
-
-
5Amp-
ESRP1-
-
-
-
5Amp-
ESRRB-
-
-
-
5Amp-
ESRRG-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETS1-
-
-
-
1Loss-
ETV1-
-
-
-
4Gain-
ETV2-
-
-
-
7Amp-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVL-
-
-
-
5Amp-
EVX1-
-
-
-
4Gain-
EVX2-
-
-
-
3Gain-
EXD2-
-
-
-
5Amp-
EXOC3-
-
-
-
3Gain-
EXOC3L4-
-
-
-
5Amp-
EXOC4-
-
-
-
3Gain-
EXOC5-
-
-
-
5Amp-
EXOC8-
-
-
-
3Gain-
EXOSC8-
-
-
-
3Gain-
EXPH5-
-
-
-
1Loss-
EXT1-
-
-
-
5Amp-
EYA1-
-
-
-
3Gain-
EYA3-
-
-
-
3Gain-
EYSp.G821A
Missense
SNP
0.323
3Gain-
EZH2-
-
-
-
3Gain-
F10-
-
-
-
3Gain-
F11-
-
-
-
4Gain-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F2R-
-
-
-
3Gain-
F2RL1-
-
-
-
3Gain-
F2RL2-
-
-
-
3Gain-
F2RL3-
-
-
-
4Gain-
F5-
-
-
-
3Gain-
F7-
-
-
-
3Gain-
FAAP24-
-
-
-
7Amp-
FABP12-
-
-
-
5Amp-
FABP4-
-
-
-
5Amp-
FABP5-
-
-
-
1Loss-
FABP9-
-
-
-
5Amp-
FAHD2A-
-
-
-
5Amp-
FAHD2B-
-
-
-
6Amp-
FAM107B-
-
-
-
3Gain-
FAM117B-
-
-
-
3Gain-
FAM118B-
-
-
-
1Loss-
FAM124A-
-
-
-
3Gain-
FAM124B-
-
-
-
3Gain-
FAM126A-
-
-
-
4Gain-
FAM126B-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM129C-
-
-
-
4Gain-
FAM131B-
-
-
-
3Gain-
FAM135A-
-
-
-
3Gain-
FAM135B-
-
-
-
8Amp-
FAM149A-
-
-
-
4Gain-
FAM149B1-
-
-
-
4Gain-
FAM155A-
-
-
-
3Gain-
FAM161B-
-
-
-
5Amp-
FAM163A-
-
-
-
3Gain-
FAM168B-
-
-
-
3Gain-
FAM170B-
-
-
-
3Gain-
FAM171A1-
-
-
-
3Gain-
FAM171B-
-
-
-
3Gain-
FAM173B-
-
-
-
3Gain-
FAM177A1-
-
-
-
5Amp-
FAM177B-
-
-
-
3Gain-
FAM178B-
-
-
-
6Amp-
FAM180A-
-
-
-
3Gain-
FAM181A-
-
-
-
5Amp-
FAM184A-
-
-
-
3Gain-
FAM185A-
-
-
-
3Gain-
FAM187B-
-
-
-
7Amp-
FAM189B-
-
-
-
3Gain-
FAM193A-
-
-
-
1Loss-
FAM208B-
-
-
-
3Gain-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
4Gain-
FAM210B-
-
-
-
3Gain-
FAM216B-
-
-
-
3Gain-
FAM217B-
-
-
-
6Amp-
FAM220A-
-
-
-
4Gain-
FAM221A-
-
-
-
4Gain-
FAM237A-
-
-
-
3Gain-
FAM241B-
-
-
-
4Gain-
FAM32A-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM47E-
-
-
-
3Gain-
FAM47E-STBD1-
-
-
-
3Gain-
FAM49B-
-
-
-
8Amp-
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
4Gain-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71D-
-
-
-
5Amp-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76A-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM83A-
-
-
-
5Amp-
FAM83C-
-
-
-
3Gain-
FAM84B-
-
-
-
8Amp-
FAM89A-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
5Amp-
FAM98C-
-
-
-
6Amp-
FANCM-
-
-
-
5Amp-
FAP-
-
-
-
3Gain-
FARP1-
-
-
-
3Gain-
FARP2-
-
-
-
1Loss-
FARSA-
-
-
-
5Amp-
FARSB-
-
-
-
3Gain-
FASLG-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FASTKD1-
-
-
-
3Gain-
FASTKD2-
-
-
-
3Gain-
FASTKD3-
-
-
-
3Gain-
FAT1-
-
-
-
4Gain-
FBH1-
-
-
-
3Gain-
FBL-
-
-
-
10Amp-
FBLN5-
-
-
-
5Amp-
FBXL13-
-
-
-
3Gain-
FBXL18-
-
-
-
4Gain-
FBXL3-
-
-
-
3Gain-
FBXL7-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO17-
-
-
-
6Amp-
FBXO27-
-
-
-
6Amp-
FBXO28-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO33-
-
-
-
5Amp-
FBXO34-
-
-
-
5Amp-
FBXO36-
-
-
-
3Gain-
FBXO4-
-
-
-
3Gain-
FBXO43-
-
-
-
5Amp-
FBXW9-
-
-
-
5Amp-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCF1-
-
-
-
5Amp-
FCGBP-
-
-
-
10Amp-
FCGR1B-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCHO1-
-
-
-
4Gain-
FCHO2-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDCSP-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FER1L5-
-
-
-
6Amp-
FER1L6-
-
-
-
3GainCCDC138--FER1L6
FERD3L-
-
-
-
4Gain-
FERMT2-
-
-
-
5Amp-
FEV-
-
-
-
3Gain-
FEZ1-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FFAR1-
-
-
-
7Amp-
FFAR2-
-
-
-
7Amp-
FFAR3-
-
-
-
7Amp-
FGF10-
-
-
-
5Amp-
FGF14-
-
-
-
3Gain-
FGF22-
-
-
-
3Gain-
FGF5-
-
-
-
3Gain-
FGF9-
-
-
-
3Gain-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGR-
-
-
-
3Gain-
FHL2-
-
-
-
5Amp-
FIGN-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FILIP1-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FITM1-
-
-
-
5Amp-
FKBP14-
-
-
-
4Gain-
FKBP1C-
-
-
-
3Gain-
FKBP3-
-
-
-
5Amp-
FKBP7-
-
-
-
3Gain-
FKBP8-
-
-
-
4Gain-
FKBP9-
-
-
-
4Gain-
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLRT2-
-
-
-
6Amp-
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FLVCR1-
-
-
-
3Gain-
FLVCR2-
-
-
-
5Amp-
FMC1-
-
-
-
3Gain-
FMNL2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FN1-
-
-
-
3Gain-
FNDC11-
-
-
-
4Gain-
FNDC3A-
-
-
-
3Gain-
FNTA-
-
-
-
1Loss-
FNTB-
-
-
-
5Amp-
FO393400.1-
-
-
-
3Gain-
FO681492.1-
-
-
-
3Gain-
FOS-
-
-
-
5Amp-
FOXA1-
-
-
-
5Amp-
FOXD1-
-
-
-
3Gain-
FOXG1-
-
-
-
5Amp-
FOXK1-
-
-
-
4Gain-
FOXN3-
-
-
-
5Amp-
FOXO1-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FOXS1-
-
-
-
3Gain-
FRAS1-
-
-
-
3Gain-
FREM2-
-
-
-
3Gain-
FRG1-
-
-
-
4Gain-
FRG2-
-
-
-
4Gain-
FRMD4A-
-
-
-
3Gain-
FRMD6-
-
-
-
5Amp-
FRMPD2-
-
-
-
3Gain-
FRY-
-
-
-
3Gain-
FRZB-
-
-
-
3Gain-
FSBP-
-
-
-
5Amp-
FSCB-
-
-
-
5Amp-
FSCN1-
-
-
-
4Gain-
FSCN3-
-
-
-
3Gain-
FSD1-
-
-
-
4Gain-
FSIP2p.E6126K
Missense
SNP
0.309
3Gain-
FST-
-
-
-
3Gain-
FSTL3-
-
-
-
3Gain-
FTCDNL1-
-
-
-
3Gain-
FUT11-
-
-
-
4Gain-
FUT8-
-
-
-
5Amp-
FXYD1-
-
-
-
7Amp-
FXYD2-
-
-
-
1Loss-
FXYD3-
-
-
-
7Amp-
FXYD4-
-
-
-
3Gain-
FXYD5-
-
-
-
7Amp-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FXYD7-
-
-
-
7Amp-
FYB1-
-
-
-
5Amp-
FYNp.R190H
Missense
SNP
1.000
2--
FZD5-
-
-
-
3Gain-
FZD6-
-
-
-
5Amp-
FZD7-
-
-
-
3Gain-
FZD8-
-
-
-
5Amp-
FZR1-
-
-
-
3Gain-
G0S2-
-
-
-
3Gain-
G2E3-
-
-
-
5Amp-
G3BP2-
-
-
-
3Gain-
G6PC2-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRR1-
-
-
-
3Gain-
GABRR2-
-
-
-
3Gain-
GAD1-
-
-
-
3Gain-
GAD2-
-
-
-
3Gain-
GADD45B-
-
-
-
3Gain-
GADD45GIP1-
-
-
-
5Amp-
GAK-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GALC-
-
-
-
5Amp-
GALNT11-
-
-
-
3Gain-
GALNT13-
-
-
-
3Gain-
GALNT16-
-
-
-
5Amp-
GALNT2-
-
-
-
3Gain-
GALNT3-
-
-
-
3Gain-
GALNT5-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GALR1-
-
-
-
1Loss-
GAMT-
-
-
-
3Gain-
GAPDHS-
-
-
-
7Amp-
GAPT-
-
-
-
3Gain-
GARS-
-
-
-
4Gain-
GAS6-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GATA3-
-
-
-
3Gain-
GATA5-
-
-
-
4Gain-
GATAD2A-
-
-
-
4Gain-
GATAD2B-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GBX2-
-
-
-
3Gain-
GC-
-
-
-
3Gain-
GCA-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCDH-
-
-
-
5Amp-
GCG-
-
-
-
3Gain-
GCH1-
-
-
-
5Amp-
GCK-
-
-
-
4Gain-
GCNT7-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDAP2-
-
-
-
3Gain-
GDF1-
-
-
-
4Gain-
GDF10-
-
-
-
3Gain-
GDF15-
-
-
-
4Gain-
GDF2-
-
-
-
3Gain-
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
5Amp-
GDI2-
-
-
-
3Gain-
GDNF-
-
-
-
5Amp-
GEM-
-
-
-
5Amp-
GEMIN2-
-
-
-
5Amp-
GET4-
-
-
-
4Gain-
GGACT-
-
-
-
3Gain-
GGCT-
-
-
-
4Gain-
GGH-
-
-
-
3Gain-
GGN-
-
-
-
6Amp-
GGT7-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHRHR-
-
-
-
4Gain-
GID8-
-
-
-
4Gain-
GIGYF2-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GINS4-
-
-
-
1Loss-
GIPC1-
-
-
-
5Amp-
GIPC3-
-
-
-
3Gain-
GJA3-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GJB7-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJD4-
-
-
-
5Amp-
GK2-
-
-
-
3Gain-
GLB1L-
-
-
-
3Gain-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLI3-
-
-
-
4Gain-
GLI4-
-
-
-
8Amp-
GLMP-
-
-
-
3Gain-
GLP2R-
-
-
-
1Loss-
GLRX2-
-
-
-
3Gain-
GLRX5-
-
-
-
5Amp-
GLS-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GLUD1-
-
-
-
1Loss-
GLUL-
-
-
-
3Gain-
GMEB1-
-
-
-
3Gain-
GMEB2-
-
-
-
4Gain-
GMFB-
-
-
-
5Amp-
GMFG-
-
-
-
10Amp-
GMIP-
-
-
-
4Gain-
GML-
-
-
-
8Amp-
GMPPA-
-
-
-
3Gain-
GMPR2p.D25N
Missense
SNP
0.190
5Amp-
GNA11-
-
-
-
3Gain-
GNA12-
-
-
-
4Gain-
GNA15-
-
-
-
3Gain-
GNASp.E718Q
Missense
SNP
0.175
6AmpAP001803.1--GNAS
GNG14-
-
-
-
5Amp-
GNG2-
-
-
-
5Amp-
GNG7-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNPNAT1-
-
-
-
5Amp-
GNRHR-
-
-
-
3Gain-
GOLGA5-
-
-
-
5Amp-
GOLGA7-
-
-
-
1Loss-
GOLPH3-
-
-
-
5Amp-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GON7-
-
-
-
5Amp-
GORAB-
-
-
-
3Gain-
GORASP2-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPALPP1-
-
-
-
3Gain-
GPAT2-
-
-
-
5Amp-
GPAT4-
-
-
-
1Loss-
GPATCH1-
-
-
-
7Amp-
GPATCH2-
-
-
-
3Gain-
GPATCH2L-
-
-
-
5Amp-
GPATCH4-
-
-
-
3Gain-
GPBAR1-
-
-
-
3Gain-
GPBP1-
-
-
-
3Gain-
GPC1-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPD2-
-
-
-
3Gain-
GPER1-
-
-
-
4Gain-
GPHB5-
-
-
-
5Amp-
GPHN-
-
-
-
5Amp-
GPI-
-
-
-
7Amp-
GPIHBP1-
-
-
-
8Amp-
GPNMB-
-
-
-
4Gain-
GPR1-
-
-
-
3Gain-
GPR12-
-
-
-
3Gain-
GPR132-
-
-
-
5Amp-
GPR135-
-
-
-
5Amp-
GPR137C-
-
-
-
5Amp-
GPR141-
-
-
-
4Gain-
GPR146-
-
-
-
4Gain-
GPR148-
-
-
-
3Gain-
GPR155-
-
-
-
3Gain-
GPR158-
-
-
-
3Gain-
GPR161-
-
-
-
3Gain-
GPR18-
-
-
-
3Gain-
GPR180-
-
-
-
3Gain-
GPR183-
-
-
-
3Gain-
GPR20-
-
-
-
8Amp-
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR33-
-
-
-
5Amp-
GPR35-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR39-
-
-
-
3Gain-
GPR42-
-
-
-
7Amp-
GPR45-
-
-
-
5Amp-
GPR52-
-
-
-
3Gain-
GPR55-
-
-
-
3Gain-
GPR65-
-
-
-
5Amp-
GPR68-
-
-
-
5Amp-
GPR85-
-
-
-
3Gain-
GPRIN2-
-
-
-
3Gain-
GPX2-
-
-
-
5Amp-
GPX4-
-
-
-
3Gain-
GPX8-
-
-
-
3Gain-
GRAMD1A-
-
-
-
7Amp-
GRAMD1B-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GRB14-
-
-
-
3Gain-
GRHL2-
-
-
-
5Amp-
GRIA4-
-
-
-
1Loss-
GRID2IP-
-
-
-
4Gain-
GRIFIN-
-
-
-
4Gain-
GRIK2-
-
-
-
3Gain-
GRIK3p.D391H
Missense
SNP
0.430
2--
GRIK4-
-
-
-
1Loss-
GRIN3B-
-
-
-
3Gain-
GRK1-
-
-
-
3Gain-
GRK4-
-
-
-
1Loss-
GRM8-
-
-
-
3Gain-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRSF1-
-
-
-
3Gain-
GRTP1-
-
-
-
3Gain-
GSC-
-
-
-
5Amp-
GSDMC-
-
-
-
8Amp-
GSDME-
-
-
-
4Gain-
GSG1L2-
-
-
-
1Loss-
GSKIP-
-
-
-
5Amp-
GSS-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GSTZ1-
-
-
-
5Amp-
GSX1-
-
-
-
3Gain-
GTDC1-
-
-
-
3Gain-
GTF2A1-
-
-
-
5Amp-
GTF2F2-
-
-
-
3Gain-
GTF2H2-
-
-
-
3Gain-
GTF2H2C-
-
-
-
3Gain-
GTF3A-
-
-
-
3Gain-
GTF3C3-
-
-
-
3Gain-
GTPBP3-
-
-
-
4Gain-
GTPBP4-
-
-
-
3Gain-
GUCY1A2-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GULP1-
-
-
-
3Gain-
GZMA-
-
-
-
3Gain-
GZMB-
-
-
-
5Amp-
GZMH-
-
-
-
5Amp-
GZMK-
-
-
-
3Gain-
GZMM-
-
-
-
3Gain-
H2AFV-
-
-
-
4Gain-
H2AFX-
-
-
-
1Loss-
H2AFY2-
-
-
-
4Gain-
H3F3A-
-
-
-
3Gain-
HACD1-
-
-
-
3Gain-
HACE1-
-
-
-
3Gain-
HAMP-
-
-
-
7Amp-
HAO2-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAPLN4-
-
-
-
4Gain-
HAS2-
-
-
-
5Amp-
HAT1-
-
-
-
3Gain-
HAUS3-
-
-
-
1Loss-
HAUS4-
-
-
-
5Amp-
HAUS5-
-
-
-
7Amp-
HAUS8-
-
-
-
4Gain-
HAX1-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HCK-
-
-
-
3Gain-
HCN1-
-
-
-
5Amp-
HCN2-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HCST-
-
-
-
7Amp-
HDAC4-
-
-
-
3Gain-
HDAC9-
-
-
-
4Gain-
HDGF-
-
-
-
3Gain-
HDGFL2-
-
-
-
4Gain-
HDLBP-
-
-
-
1Loss-
HEATR4-
-
-
-
5Amp-
HEATR5A-
-
-
-
5Amp-
HECTD1-
-
-
-
5Amp-
HECTD2-
-
-
-
3Gain-
HECW1-
-
-
-
4Gain-
HECW2-
-
-
-
3Gain-
HELT-
-
-
-
4Gain-
HELZ2-
-
-
-
4Gain-
HEPACAM-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERPUD2-
-
-
-
4Gain-
HES6-
-
-
-
3Gain-
HEY1-
-
-
-
1Loss-
HGFAC-
-
-
-
1Loss-
HGSNAT-
-
-
-
1Loss-
HHAT-
-
-
-
3Gain-
HHIPL1-
-
-
-
5Amp-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
8Amp-
HIBADH-
-
-
-
4Gain-
HIBCH-
-
-
-
3Gain-
HIF1A-
-
-
-
5Amp-
HILPDA-
-
-
-
3Gain-
HINFP-
-
-
-
1Loss-
HIPK2-
-
-
-
3Gain-
HIPK3p.P807A
Missense
SNP
0.464
2--
HIPK4-
-
-
-
10Amp-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HJURP-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HK1-
-
-
-
4Gain-
HKDC1-
-
-
-
4Gain-
HKR1-
-
-
-
6Amp-
HLX-
-
-
-
3Gain-
HM13-
-
-
-
3Gain-
HMBS-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMG20B-
-
-
-
3Gain-
HMGB1-
-
-
-
3Gain-
HMGCS1-
-
-
-
3Gain-
HMGCS2-
-
-
-
3Gain-
HMGN3-
-
-
-
3Gain-
HMSD-
-
-
-
1Loss-
HNF4G-
-
-
-
3Gain-
HNMT-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
4Gain-
HNRNPA3-
-
-
-
3Gain-
HNRNPC-
-
-
-
5Amp-
HNRNPF-
-
-
-
3Gain-
HNRNPL-
-
-
-
6Amp-
HOMER1-
-
-
-
3Gain-
HOMER3-
-
-
-
4Gain-
HOMEZ-
-
-
-
5Amp-
HOOK2-
-
-
-
5Amp-
HOOK3-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HOXA1-
-
-
-
4Gain-
HOXA10-
-
-
-
4Gain-
HOXA11-
-
-
-
4Gain-
HOXA13-
-
-
-
4Gain-
HOXA2-
-
-
-
4Gain-
HOXA3-
-
-
-
4Gain-
HOXA4-
-
-
-
4Gain-
HOXA5-
-
-
-
4Gain-
HOXA6-
-
-
-
4Gain-
HOXA7-
-
-
-
4Gain-
HOXA9-
-
-
-
4Gain-
HOXD1-
-
-
-
3Gain-
HOXD10-
-
-
-
3Gain-
HOXD11-
-
-
-
3Gain-
HOXD12-
-
-
-
3Gain-
HOXD13-
-
-
-
3Gain-
HOXD3-
-
-
-
3Gain-
HOXD4-
-
-
-
3Gain-
HOXD8-
-
-
-
3Gain-
HOXD9-
-
-
-
3Gain-
HP-
-
-
-
1Loss-
HPN-
-
-
-
7Amp-
HPR-
-
-
-
1Loss-
HRH3-
-
-
-
4Gain-
HRNR-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST3-
-
-
-
3Gain-
HSBP1L1-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSD3B1-
-
-
-
3Gain-
HSD3B2-
-
-
-
3Gain-
HSH2D-
-
-
-
3Gain-
HSP90AA1-
-
-
-
5Amp-
HSPA14-
-
-
-
3Gain-
HSPA2-
-
-
-
5Amp-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
3Gain-
HSPB6-
-
-
-
7Amp-
HSPD1-
-
-
-
3Gain-
HSPE1-
-
-
-
3Gain-
HSPE1-MOB4-
-
-
-
3Gain-
HSPH1-
-
-
-
3Gain-
HTN1-
-
-
-
3Gain-
HTN3-
-
-
-
3Gain-
HTR1A-
-
-
-
3Gain-
HTR1B-
-
-
-
3Gain-
HTR1E-
-
-
-
3Gain-
HTR2A-
-
-
-
3Gain-
HTR2B-
-
-
-
3Gain-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HTR7-
-
-
-
3Gain-
HTT-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBTK-
-
-
-
3Gain-
ICA1L-
-
-
-
3Gain-
ICE1-
-
-
-
3Gain-
ICOS-
-
-
-
3Gain-
ID1-
-
-
-
3Gain-
IDH1-
-
-
-
3Gain-
IDI1-
-
-
-
3Gain-
IDI2-
-
-
-
3Gain-
IDUA-
-
-
-
1Loss-
IER2-
-
-
-
5Amp-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI27-
-
-
-
5Amp-
IFI27L1-
-
-
-
5Amp-
IFI27L2-
-
-
-
5Amp-
IFI30-
-
-
-
4Gain-
IFI6-
-
-
-
3Gain-
IFIH1-
-
-
-
3Gain-
IFNL1-
-
-
-
10Amp-
IFNL2-
-
-
-
6Amp-
IFNL3-
-
-
-
6Amp-
IFRD1-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IFT43-
-
-
-
5Amp-
IFT46-
-
-
-
1Loss-
IFT88-
-
-
-
3Gain-
IGF2BP3-
-
-
-
4Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP2-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP5-
-
-
-
3Gain-
IGFLR1-
-
-
-
7Amp-
IGFN1-
-
-
-
3Gain-
IGHD-
-
-
-
5Amp-
IGHV3-72-
-
-
-
5Amp-
IGSF3-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IHH-
-
-
-
3Gain-
IKBKB-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IKZF2-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL10RA-
-
-
-
1Loss-
IL12RB1-
-
-
-
4Gain-
IL15RA-
-
-
-
3Gain-
IL17D-
-
-
-
3Gain-
IL18-
-
-
-
1Loss-
IL18R1-
-
-
-
6Amp-
IL18RAP-
-
-
-
6Amp-
IL19-
-
-
-
3Gain-
IL1R1-
-
-
-
6Amp-
IL1R2-
-
-
-
6Amp-
IL1RL1-
-
-
-
6Amp-
IL1RL2-
-
-
-
6Amp-
IL20-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL25-
-
-
-
5Amp-
IL27RA-
-
-
-
5Amp-
IL2RA-
-
-
-
3Gain-
IL31RA-
-
-
-
3Gain-
IL6-
-
-
-
4Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
3Gain-
IL7-
-
-
-
1Loss-
IL7R-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILKAP-
-
-
-
3Gain-
ILVBL-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMP4-
-
-
-
3Gain-
IMPA1-
-
-
-
5Amp-
IMPDH1-
-
-
-
3Gain-
IMPG1-
-
-
-
3Gain-
INAVA-
-
-
-
3Gain-
INF2-
-
-
-
5Amp-
ING1-
-
-
-
3Gain-
ING2-
-
-
-
4Gain-
ING3-
-
-
-
3Gain-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
3Gain-
INHBA-
-
-
-
4Gain-
INMT-
-
-
-
4Gain-
INMT-MINDY4-
-
-
-
4Gain-
INO80D-
-
-
-
3Gain-
INPP1-
-
-
-
3Gain-
INPP4A-
-
-
-
6Amp-
INPP5D-
-
-
-
3Gain-
INSIG1-
-
-
-
3Gain-
INSL3-
-
-
-
4Gain-
INSM2-
-
-
-
5Amp-
INSRR-
-
-
-
3Gain-
INTS1-
-
-
-
4Gain-
INTS3-
-
-
-
3Gain-
INTS6-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
INTS8-
-
-
-
5Amp-
IPMK-
-
-
-
3Gain-
IPO11-
-
-
-
3Gain-
IPO4-
-
-
-
5Amp-
IPO5-
-
-
-
3Gain-
IPO9-
-
-
-
3Gain-
IQCA1-
-
-
-
3Gain-
IQCE-
-
-
-
4Gain-
IQCN-
-
-
-
4Gain-
IQGAP2-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK1BP1-
-
-
-
3Gain-
IRF2-
-
-
-
4Gain-
IRF2BPL-
-
-
-
5Amp-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF9-
-
-
-
5Amp-
IRS1-
-
-
-
3Gain-
IRS2-
-
-
-
3Gain-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
3Gain-
ISCA2-
-
-
-
5Amp-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
3Gain-
ISM2-
-
-
-
5Amp-
ISPD-
-
-
-
4Gain-
ISYNA1-
-
-
-
4Gain-
ITCHp.R666H
Missense
SNP
0.489
3Gain-
ITGA1-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA2-
-
-
-
3Gain-
ITGA4-
-
-
-
3Gain-
ITGA6-
-
-
-
3Gain-
ITGA8-
-
-
-
3Gain-
ITGAV-
-
-
-
3Gain-
ITGB1-
-
-
-
3Gain-
ITGB6-
-
-
-
3Gain-
ITGB8-
-
-
-
4Gain-
ITGBL1-
-
-
-
3Gain-
ITIH2-
-
-
-
3Gain-
ITIH5-
-
-
-
3Gain-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2B-
-
-
-
3Gain-
ITM2C-
-
-
-
3Gain-
ITPK1-
-
-
-
5Amp-
ITPKB-
-
-
-
3Gain-
ITPKC-
-
-
-
10Amp-
ITPRID1-
-
-
-
4Gain-
ITPRID2-
-
-
-
3Gain-
ITPRIPL1-
-
-
-
6Amp-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IZUMO4-
-
-
-
3Gain-
JAG2-
-
-
-
5Amp-
JAK3-
-
-
-
4Gain-
JAKMIP1-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JAZF1-
-
-
-
4Gain-
JCAD-
-
-
-
3Gain-
JCHAIN-
-
-
-
3Gain-
JDP2-
-
-
-
5Amp-
JHY-
-
-
-
1Loss-
JKAMP-
-
-
-
5Amp-
JMJD4-
-
-
-
3Gain-
JMY-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JPH4-
-
-
-
5Amp-
JRK-
-
-
-
8Amp-
JRKL-
-
-
-
1Loss-
JSRP1-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
JUNB-
-
-
-
5Amp-
JUND-
-
-
-
4Gain-
KANSL1-
-
-
-
2-ARL17A--KANSL1
KANSL1L-
-
-
-
3Gain-
KANSL3-
-
-
-
6Amp-
KAT6A-
-
-
-
1Loss-
KAT6B-
-
-
-
4Gain-
KATNAL1-
-
-
-
3Gain-
KBTBD2-
-
-
-
4Gain-
KBTBD3-
-
-
-
1Loss-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCND2-
-
-
-
4Gain-
KCNE4-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNH1-
-
-
-
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH5-
-
-
-
5Amp-
KCNH7-
-
-
-
3Gain-
KCNIP3-
-
-
-
5Amp-
KCNJ1-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ13-
-
-
-
3Gain-
KCNJ3-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
5Amp-
KCNK13-
-
-
-
5Amp-
KCNK2-
-
-
-
3Gain-
KCNK6-
-
-
-
6Amp-
KCNK9-
-
-
-
8Amp-
KCNMA1-
-
-
-
4Gain-
KCNN1-
-
-
-
4Gain-
KCNN3-
-
-
-
3Gain-
KCNQ2-
-
-
-
4Gain-
KCNQ3-
-
-
-
8Amp-
KCNQ5-
-
-
-
3Gain-
KCNRG-
-
-
-
3Gain-
KCNS2-
-
-
-
5Amp-
KCNT2-
-
-
-
3Gain-
KCNV1-
-
-
-
6Amp-
KCP-
-
-
-
3Gain-
KCTD12-
-
-
-
3Gain-
KCTD15-
-
-
-
7Amp-
KCTD18-
-
-
-
3Gain-
KCTD3-
-
-
-
3Gain-
KCTD4-
-
-
-
3Gain-
KDELC1-
-
-
-
3Gain-
KDELC2-
-
-
-
1Loss-
KDELR2-
-
-
-
4Gain-
KDM5B-
-
-
-
3Gain-
KDM7A-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KEL-
-
-
-
3Gain-
KHDC1-
-
-
-
3Gain-
KHDC1L-
-
-
-
3Gain-
KHDC3L-
-
-
-
3Gain-
KHDC4-
-
-
-
3Gain-
KHDRBS2-
-
-
-
3Gain-
KHDRBS3-
-
-
-
8Amp-
KHNYN-
-
-
-
5Amp-
KIAA0040-
-
-
-
3Gain-
KIAA0232-
-
-
-
1Loss-
KIAA0355-
-
-
-
7Amp-
KIAA0391-
-
-
-
5Amp-
KIAA0586-
-
-
-
5Amp-
KIAA0895-
-
-
-
4Gain-
KIAA1147-
-
-
-
3Gain-
KIAA1211L-
-
-
-
6Amp-
KIAA1217-
-
-
-
3Gain-
KIAA1549-
-
-
-
3Gain-
KIAA1614-
-
-
-
3Gain-
KIAA2012-
-
-
-
3Gain-
KIF14-
-
-
-
3Gain-
KIF1A-
-
-
-
3GainPARD6G--KIF1A
KIF1BP-
-
-
-
4Gain-
KIF21B-
-
-
-
3Gain-
KIF26A-
-
-
-
5Amp-
KIF2A-
-
-
-
3Gain-
KIF3B-
-
-
-
3Gain-
KIF5B-
-
-
-
3Gain-
KIF5C-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIN-
-
-
-
3Gain-
KIRREL1-
-
-
-
3Gain-
KIRREL2-
-
-
-
7Amp-
KIRREL3-
-
-
-
1Loss-
KISS1-
-
-
-
3Gain-
KISS1R-
-
-
-
3Gain-
KL-
-
-
-
3Gain-
KLC1-
-
-
-
5Amp-
KLF1-
-
-
-
5Amp-
KLF10-
-
-
-
5Amp-
KLF12-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF16-
-
-
-
3Gain-
KLF2-
-
-
-
4Gain-
KLF5-
-
-
-
3Gain-
KLF6-
-
-
-
3Gain-
KLF7-
-
-
-
3Gain-
KLHDC1-
-
-
-
5Amp-
KLHDC10-
-
-
-
3Gain-
KLHDC2-
-
-
-
5Amp-
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
4Gain-
KLHL12-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL23-
-
-
-
3Gain-
KLHL26-
-
-
-
4Gain-
KLHL28-
-
-
-
5Amp-
KLHL30-
-
-
-
3Gain-
KLHL33-
-
-
-
5Amp-
KLHL38-
-
-
-
3Gain-
KLHL41-
-
-
-
3Gain-
KLHL7-
-
-
-
4Gain-
KLKB1-
-
-
-
4Gain-
KLLN-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KMT2A-
-
-
-
1Loss-
KMT2B-
-
-
-
7Amp-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KPNA3-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KRTDAP-
-
-
-
7Amp-
KTN1-
-
-
-
5Amp-
KXD1-
-
-
-
4Gain-
KYNU-
-
-
-
3Gain-
L2HGDH-
-
-
-
5Amp-
L3HYPDH-
-
-
-
5Amp-
LACC1-
-
-
-
3Gain-
LACTB2-
-
-
-
3Gain-
LAD1-
-
-
-
3Gain-
LAMA5-
-
-
-
4Gain-
LAMB1-
-
-
-
3Gain-
LAMB3-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2p.A1036T
Missense
SNP
0.637
3Gain-
LAMP1-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LANCL1-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
5Amp-
LARP4B-
-
-
-
3Gain-
LATS2-
-
-
-
3Gain-
LAX1-
-
-
-
3Gain-
LAYN-
-
-
-
1Loss-
LBR-
-
-
-
3Gain-
LCA5-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCP1-
-
-
-
3Gain-
LCT-
-
-
-
3Gain-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEP-
-
-
-
3Gain-
LETM1-
-
-
-
1Loss-
LEUTX-
-
-
-
10Amp-
LFNG-
-
-
-
4Gain-
LGALS13-
-
-
-
10Amp-
LGALS14-
-
-
-
10Amp-
LGALS16-
-
-
-
10Amp-
LGALS3-
-
-
-
5Amp-
LGALS4-
-
-
-
6Amp-
LGALS7-
-
-
-
6Amp-
LGALS7B-
-
-
-
6Amp-
LGI4-
-
-
-
7Amp-
LGMN-
-
-
-
5Amp-
LGR6-
-
-
-
3Gain-
LGSN-
-
-
-
3Gain-
LHFPL2-
-
-
-
3Gain-
LHFPL3-
-
-
-
3Gain-
LHFPL6-
-
-
-
3Gain-
LHPP-
-
-
-
4Gain-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIFR-
-
-
-
5Amp-
LIG4-
-
-
-
3Gain-
LIME1-
-
-
-
4Gain-
LIN37-
-
-
-
7Amp-
LIN52-
-
-
-
5Amp-
LIN9-
-
-
-
3Gain-
LINGO3-
-
-
-
3Gain-
LINGO4-
-
-
-
3Gain-
LIPT1-
-
-
-
6Amp-
LIX1L-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
4Gain-
LLCFC1-
-
-
-
3Gain-
LMAN1-
-
-
-
1Loss-
LMAN2L-
-
-
-
6Amp-
LMBR1-
-
-
-
3Gain-
LMBRD1-
-
-
-
3Gain-
LMBRD2-
-
-
-
3Gain-
LMLN2-
-
-
-
5Amp-
LMNA-
-
-
-
3Gain-
LMNB2-
-
-
-
3Gain-
LMO7-
-
-
-
3Gain-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LNPK-
-
-
-
3Gain-
LNX2-
-
-
-
3Gain-
LONRF2-
-
-
-
6Amp-
LOR-
-
-
-
3Gain-
LPAR2-
-
-
-
4Gain-
LPAR6-
-
-
-
3Gain-
LPCAT1-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LPIN3-
-
-
-
4Gain-
LRCH1-
-
-
-
3Gain-
LRFN1-
-
-
-
10Amp-
LRFN2p.P647L
Missense
SNP
0.542
2--
LRFN3-
-
-
-
7Amp-
LRFN5-
-
-
-
5Amp-
LRG1-
-
-
-
4Gain-
LRGUK-
-
-
-
3Gain-
LRMDA-
-
-
-
4Gain-
LRP10-
-
-
-
5Amp-
LRP12-
-
-
-
5Amp-
LRP1B-
-
-
-
3Gain-
LRP2-
-
-
-
3Gain-
LRP2BP-
-
-
-
4Gain-
LRP3-
-
-
-
7Amp-
LRPAP1-
-
-
-
1Loss-
LRR1-
-
-
-
5Amp-
LRRC14B-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
3Gain-
LRRC20-
-
-
-
4Gain-
LRRC25-
-
-
-
4Gain-
LRRC4-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC6-
-
-
-
8Amp-
LRRC61-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC69-
-
-
-
5Amp-
LRRC70-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
4Gain-
LRRC74A-
-
-
-
5Amp-
LRRC9-
-
-
-
5Amp-
LRRCC1-
-
-
-
5Amp-
LRRFIP1-
-
-
-
3Gain-
LRRN2-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSM14A-
-
-
-
7Amp-
LSM14B-
-
-
-
4Gain-
LSM4-
-
-
-
4Gain-
LSM5-
-
-
-
4Gain-
LSM7-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSR-
-
-
-
7Amp-
LTB4R-
-
-
-
5Amp-
LTB4R2-
-
-
-
5Amp-
LTBP2-
-
-
-
5Amp-
LTBP4-
-
-
-
10Amp-
LUC7L2-
-
-
-
3Gain-
LURAP1p.L43M
Missense
SNP
0.338
2--
LUZP6-
-
-
-
3Gain-
LY6D-
-
-
-
8Amp-
LY6E-
-
-
-
8Amp-
LY6H-
-
-
-
8Amp-
LY6K-
-
-
-
8Amp-
LY6L-
-
-
-
8Amp-
LY75-
-
-
-
3Gain-
LY75-CD302-
-
-
-
3Gain-
LY9p.E561Q
Missense
SNP
0.327
3Gain-
LY96-
-
-
-
3Gain-
LYAR-
-
-
-
1Loss-
LYG1-
-
-
-
6Amp-
LYG2-
-
-
-
6Amp-
LYL1-
-
-
-
5Amp-
LYNX1-
-
-
-
8Amp-
LYNX1-SLURP2-
-
-
-
8Amp-
LYPD1-
-
-
-
3Gain-
LYPD2-
-
-
-
8Amp-
LYPD6-
-
-
-
3Gain-
LYPD6B-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYZL1-
-
-
-
3Gain-
LYZL2-
-
-
-
3Gain-
MAB21L1-
-
-
-
3Gain-
MAB21L3-
-
-
-
3Gain-
MAB21L4-
-
-
-
1Loss-
MACC1-
-
-
-
4Gain-
MAD1L1-
-
-
-
4Gain-
MADCAM1-
-
-
-
3Gain-
MAEA-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAFB-
-
-
-
4Gain-
MAFK-
-
-
-
4Gain-
MAG-
-
-
-
7Amp-
MAIP1-
-
-
-
3Gain-
MAL-
-
-
-
5Amp-
MAL2-
-
-
-
5Amp-
MALRD1-
-
-
-
3Gain-
MALSU1-
-
-
-
4Gain-
MALT1-
-
-
-
1Loss-
MAML2-
-
-
-
1Loss-
MAN1A2-
-
-
-
3Gain-
MAN2B1-
-
-
-
3Gain-
MAN2B2-
-
-
-
1Loss-
MAP10-
-
-
-
3Gain-
MAP1B-
-
-
-
3Gain-
MAP1LC3A-
-
-
-
3Gain-
MAP1S-
-
-
-
4Gain-
MAP2-
-
-
-
3Gain-
MAP2K2-
-
-
-
4Gain-
MAP2K4-
-
-
-
1Loss-
MAP3K1-
-
-
-
3Gain-
MAP3K10-
-
-
-
10Amp-
MAP3K19-
-
-
-
3Gain-
MAP3K20-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K8-
-
-
-
3Gain-
MAP3K9-
-
-
-
5Amp-
MAP4K1-
-
-
-
6Amp-
MAP4K4-
-
-
-
6Amp-
MAP4K5-
-
-
-
5Amp-
MAPK1IP1L-
-
-
-
5Amp-
MAPK8-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
3Gain-
MAPRE1-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH11-
-
-
-
3Gain-
MARCH4-
-
-
-
3Gain-
MARCH6-
-
-
-
3Gain-
MARCH7-
-
-
-
3Gain-
MARCH8-
-
-
-
3Gain-
MARK1-
-
-
-
3Gain-
MARK3-
-
-
-
5Amp-
MARS2-
-
-
-
3Gain-
MARVELD2-
-
-
-
3Gain-
MAST1-
-
-
-
5Amp-
MAST3-
-
-
-
4Gain-
MAST4-
-
-
-
3Gain-
MASTL-
-
-
-
3Gain-
MATK-
-
-
-
4Gain-
MATN2-
-
-
-
5Amp-
MAU2-
-
-
-
4Gain-
MAX-
-
-
-
5Amp-
MBD3-
-
-
-
3Gain-
MBD5-
-
-
-
3Gain-
MBIP-
-
-
-
5Amp-
MBL2-
-
-
-
3Gain-
MBNL2-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MC3R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCCC2-
-
-
-
3Gain-
MCF2L-
-
-
-
3Gain-
MCIDAS-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
3Gain-
MCM6-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCTS2P-
-
-
-
3Gain-
MCU-
-
-
-
4Gain-
MDFIC-
-
-
-
3Gain-
MDGA2-
-
-
-
5Amp-
MDH1B-
-
-
-
3Gain-
MDM1p.Q561E
Missense
SNP
0.534
2--
MDM4-
-
-
-
3Gain-
MDP1-
-
-
-
5Amp-
ME1-
-
-
-
3Gain-
MED10-
-
-
-
3Gain-
MED16-
-
-
-
3Gain-
MED18-
-
-
-
3Gain-
MED26-
-
-
-
4Gain-
MED29-
-
-
-
10Amp-
MED30-
-
-
-
5Amp-
MED4-
-
-
-
3Gain-
MED6-
-
-
-
5Amp-
MEDAG-
-
-
-
3Gain-
MEF2B-
-
-
-
4Gain-
MEF2D-
-
-
-
3Gain-
MEI4-
-
-
-
3Gain-
MEIG1-
-
-
-
3Gain-
MEOX2-
-
-
-
4Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1D-
-
-
-
3Gain-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL17-
-
-
-
5Amp-
METTL18-
-
-
-
3Gain-
METTL21A-
-
-
-
3Gain-
METTL21C-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL3-
-
-
-
5Amp-
METTL5-
-
-
-
3Gain-
METTL8-
-
-
-
3Gain-
MEX3A-
-
-
-
3Gain-
MEX3D-
-
-
-
3Gain-
MFF-
-
-
-
3Gain-
MFRP-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD12-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MFSD6-
-
-
-
3Gain-
MFSD9-
-
-
-
6Amp-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT2-
-
-
-
5Amp-
MGAT4A-
-
-
-
6Amp-
MGAT5-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA-
-
-
-
10Amp-
MIA-RAB4B-
-
-
-
10Amp-
MIA2-
-
-
-
5Amp-
MIA3-
-
-
-
3Gain-
MICALL2-
-
-
-
4Gain-
MICU1-
-
-
-
4Gain-
MICU2-
-
-
-
3Gain-
MIDN-
-
-
-
3Gain-
MIER2-
-
-
-
3Gain-
MIER3-
-
-
-
3Gain-
MINDY1-
-
-
-
3Gain-
MINDY3-
-
-
-
3Gain-
MINDY4-
-
-
-
4Gain-
MINPP1-
-
-
-
1Loss-
MIPEP-
-
-
-
3Gain-
MIPOL1-
-
-
-
5Amp-
MIS18BP1-
-
-
-
5Amp-
MISP-
-
-
-
3Gain-
MISP3-
-
-
-
5Amp-
MITD1-
-
-
-
6Amp-
MIXL1-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKNK2-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKX-
-
-
-
3Gain-
MLH3-
-
-
-
5Amp-
MLLT10-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT4p.D1220N
Missense
SNP
0.391
NDND-
MLNR-
-
-
-
3Gain-
MLPH-
-
-
-
3Gain-
MMADHC-
-
-
-
3Gain-
MMD2-
-
-
-
4Gain-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP14-
-
-
-
5Amp-
MMP16-
-
-
-
5Amp-
MMP20-
-
-
-
1Loss-
MMP24-
-
-
-
3Gain-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MNAT1-
-
-
-
5Amp-
MNDA-
-
-
-
3Gain-
MNX1-
-
-
-
3Gain-
MOAP1-
-
-
-
5Amp-
MOB1B-
-
-
-
3Gain-
MOB3A-
-
-
-
3Gain-
MOB4-
-
-
-
3Gain-
MOCS2-
-
-
-
3Gain-
MOGAT1-
-
-
-
3Gain-
MOK-
-
-
-
5Amp-
MPC2-
-
-
-
3Gain-
MPLKIP-
-
-
-
4Gain-
MPND-
-
-
-
4Gain-
MPP4-
-
-
-
3Gain-
MPP5-
-
-
-
5Amp-
MPP6-
-
-
-
4Gain-
MPP7-
-
-
-
3Gain-
MPV17L2-
-
-
-
4Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MR1-
-
-
-
3Gain-
MRAP2-
-
-
-
3Gain-
MRC1-
-
-
-
3Gain-
MREG-
-
-
-
3Gain-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGBP-
-
-
-
4Gain-
MRI1-
-
-
-
5Amp-
MRM2-
-
-
-
4Gain-
MROH2A-
-
-
-
3Gain-
MROH2B-
-
-
-
3Gain-
MROH5-
-
-
-
8Amp-
MROH9-
-
-
-
3Gain-
MRPL1-
-
-
-
3Gain-
MRPL13-
-
-
-
5Amp-
MRPL24-
-
-
-
3Gain-
MRPL30-
-
-
-
6Amp-
MRPL32-
-
-
-
4Gain-
MRPL34-
-
-
-
4Gain-
MRPL36-
-
-
-
3Gain-
MRPL44-
-
-
-
3Gain-
MRPL52-
-
-
-
5Amp-
MRPL54-
-
-
-
4Gain-
MRPL55-
-
-
-
3Gain-
MRPL57-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS12-
-
-
-
6Amp-
MRPS14-
-
-
-
3Gain-
MRPS16-
-
-
-
4Gain-
MRPS17-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS24-
-
-
-
4Gain-
MRPS27-
-
-
-
3Gain-
MRPS28-
-
-
-
1Loss-
MRPS30-
-
-
-
5Amp-
MRPS31-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MRPS36-
-
-
-
3Gain-
MRPS5-
-
-
-
5Amp-
MRPS9-
-
-
-
5Amp-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSMB-
-
-
-
3Gain-
MSRB2-
-
-
-
3Gain-
MSS51-
-
-
-
4Gain-
MSTN-
-
-
-
3Gain-
MSTO1-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MTA1-
-
-
-
5Amp-
MTBP-
-
-
-
5Amp-
MTDH-
-
-
-
5Amp-
MTERF3-
-
-
-
5Amp-
MTERF4-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTG2-
-
-
-
4Gain-
MTHFD1-
-
-
-
5Amp-
MTHFD2L-
-
-
-
3Gain-
MTIF3-
-
-
-
3Gain-
MTMR12-
-
-
-
3Gain-
MTMR2-
-
-
-
1Loss-
MTMR6-
-
-
-
3Gain-
MTNR1A-
-
-
-
4Gain-
MTO1-
-
-
-
3Gain-
MTPAP-
-
-
-
3Gain-
MTPN-
-
-
-
3Gain-
MTREX-
-
-
-
3Gain-
MTRF1-
-
-
-
3Gain-
MTRR-
-
-
-
3Gain-
MTSS1-
-
-
-
8Amp-
MTURN-
-
-
-
4Gain-
MTUS2-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MTX2-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC7-
-
-
-
3Gain-
MUM1-
-
-
-
3Gain-
MVB12A-
-
-
-
4Gain-
MXD4-
-
-
-
1Loss-
MYBL1-
-
-
-
3Gain-
MYBPH-
-
-
-
3Gain-
MYC-
-
-
-
8Amp-
MYCBP2-
-
-
-
3Gain-
MYH1-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
5Amp-
MYH7-
-
-
-
5Amp-
MYH7B-
-
-
-
3Gain-
MYH8-
-
-
-
1Loss-
MYL1-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYL7-
-
-
-
4Gain-
MYLK2-
-
-
-
3Gain-
MYO10-
-
-
-
3Gain-
MYO16p.R1029I
Missense
SNP
0.218
3Gain-
MYO1B-
-
-
-
3Gain-
MYO1G-
-
-
-
4Gain-
MYO3A-
-
-
-
3Gain-
MYO3B-
-
-
-
3Gain-
MYO6-
-
-
-
3Gain-
MYO9B-
-
-
-
4Gain-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOZ1-
-
-
-
4Gain-
MYT1-
-
-
-
4Gain-
MZF1-
-
-
-
1Loss-
MZT1-
-
-
-
3Gain-
MZT2A-
-
-
-
3Gain-
MZT2B-
-
-
-
3Gain-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
NAA11-
-
-
-
3Gain-
NAA16-
-
-
-
3Gain-
NAA30-
-
-
-
5Amp-
NAAA-
-
-
-
3Gain-
NAB1-
-
-
-
3Gain-
NABP1-
-
-
-
3Gain-
NACAD-
-
-
-
4Gain-
NACC1-
-
-
-
5Amp-
NADK2-
-
-
-
5Amp-
NAIP-
-
-
-
3Gain-
NALCN-
-
-
-
3Gain-
NAMPT-
-
-
-
3Gain-
NANOS3-
-
-
-
5Amp-
NAPEPLD-
-
-
-
3Gain-
NAT8L-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAXD-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBEA-
-
-
-
3Gain-
NBEAL1-
-
-
-
3Gain-
NBN-
-
-
-
5Amp-
NBPF26-
-
-
-
3Gain-
NCALD-
-
-
-
5Amp-
NCAM1-
-
-
-
1Loss-
NCAN-
-
-
-
4Gain-
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCAPH-
-
-
-
6Amp-
NCCRP1-
-
-
-
6Amp-
NCF2-
-
-
-
3Gain-
NCK2-
-
-
-
5Amp-
NCKAP1-
-
-
-
3Gain-
NCKAP5-
-
-
-
3Gain-
NCL-
-
-
-
3Gain-
NCLN-
-
-
-
3Gain-
NCOA2-
-
-
-
3Gain-
NCOA4-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCSTN-
-
-
-
3Gain-
NDFIP2-
-
-
-
3Gain-
NDRG1-
-
-
-
8Amp-
NDRG2-
-
-
-
5Amp-
NDST2-
-
-
-
4Gain-
NDUFA10-
-
-
-
3Gain-
NDUFA13-
-
-
-
4Gain-
NDUFA5-
-
-
-
3Gain-
NDUFAF2-
-
-
-
3Gain-
NDUFAF6-
-
-
-
5Amp-
NDUFB1-
-
-
-
5Amp-
NDUFB2-
-
-
-
3Gain-
NDUFB7-
-
-
-
3Gain-
NDUFB9-
-
-
-
8Amp-
NDUFS1-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NDUFS4-
-
-
-
3Gain-
NDUFS6-
-
-
-
3Gain-
NDUFS7-
-
-
-
3Gain-
NEB-
-
-
-
3Gain-
NEBL-
-
-
-
3Gain-
NECAB1-
-
-
-
5Amp-
NECAB3-
-
-
-
3Gain-
NECTIN1-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD8-
-
-
-
5Amp-
NEDD8-MDP1-
-
-
-
5Amp-
NEK2-
-
-
-
3Gain-
NEK3-
-
-
-
3Gain-
NEK4-
-
-
-
3Gain-
NEK5-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NEK9-
-
-
-
5Amp-
NELFA-
-
-
-
1Loss-
NELFCD-
-
-
-
6Amp-
NEMF-
-
-
-
5Amp-
NEMP2-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NET1-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NEU2-
-
-
-
3Gain-
NEU4-
-
-
-
1Loss-
NEURL3-
-
-
-
6Amp-
NEUROD1-
-
-
-
3Gain-
NEUROD6-
-
-
-
4Gain-
NEUROG3-
-
-
-
4Gain-
NFASC-
-
-
-
3Gain-
NFATC1-
-
-
-
1Loss-
NFATC4-
-
-
-
5Amp-
NFE2L2-
-
-
-
3Gain-
NFE2L3-
-
-
-
4Gain-
NFE4-
-
-
-
3Gain-
NFIC-
-
-
-
3Gain-
NFIX-
-
-
-
5Amp-
NFKBIA-
-
-
-
5Amp-
NFKBIB-
-
-
-
6Amp-
NFKBID-
-
-
-
7Amp-
NFRKB-
-
-
-
1Loss-
NFS1-
-
-
-
3Gain-
NGB-
-
-
-
5Amp-
NGDN-
-
-
-
5Amp-
NGEF-
-
-
-
3Gain-
NGF-
-
-
-
3Gain-
NHEJ1-
-
-
-
3Gain-
NHLH1-
-
-
-
3Gain-
NHLH2-
-
-
-
3Gain-
NHLRC3-
-
-
-
3Gain-
NID2-
-
-
-
5Amp-
NIF3L1-
-
-
-
3Gain-
NIM1K-
-
-
-
3Gain-
NIN-
-
-
-
5Amp-
NIPAL2-
-
-
-
5Amp-
NIPBL-
-
-
-
5Amp-
NIPSNAP2-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
4Gain-
NKAPD1-
-
-
-
1Loss-
NKD2-
-
-
-
3Gain-
NKX1-1-
-
-
-
1Loss-
NKX1-2-
-
-
-
4Gain-
NKX2-1-
-
-
-
5Amp-
NKX2-8-
-
-
-
5Amp-
NKX6-3-
-
-
-
1Loss-
NLN-
-
-
-
3Gain-
NLRX1-
-
-
-
1Loss-
NME7-
-
-
-
3Gain-
NME8-
-
-
-
4Gain-
NMI-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMRK2-
-
-
-
4Gain-
NMS-
-
-
-
6Amp-
NMT2-
-
-
-
3Gain-
NMUR1-
-
-
-
3Gain-
NNMT-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOBOX-
-
-
-
3Gain-
NOD1-
-
-
-
4Gain-
NODAL-
-
-
-
4Gain-
NOL4L-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOP14-
-
-
-
1Loss-
NOP58-
-
-
-
3Gain-
NOP9-
-
-
-
5Amp-
NOS1AP-
-
-
-
3Gain-
NOS3-
-
-
-
3Gain-
NOSTRIN-
-
-
-
3Gain-
NOTCH2-
-
-
-
3Gain-
NOTCH3-
-
-
-
3Gain-
NOV-
-
-
-
5Amp-
NOVA1-
-
-
-
5Amp-
NOXRED1-
-
-
-
5Amp-
NPAS2-
-
-
-
6Amp-
NPAS3-
-
-
-
5Amp-
NPAT-
-
-
-
1Loss-
NPBWR2-
-
-
-
4Gain-
NPC1L1-
-
-
-
4Gain-
NPC2-
-
-
-
5Amp-
NPEPL1-
-
-
-
6Amp-
NPFFR1-
-
-
-
4Gain-
NPFFR2-
-
-
-
3Gain-
NPHS1-
-
-
-
7Amp-
NPHS2-
-
-
-
3Gain-
NPIPB15-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPPC-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NPSR1-
-
-
-
4Gain-
NPVF-
-
-
-
4Gain-
NPY-
-
-
-
4Gain-
NPY4R-
-
-
-
3Gain-
NPY4R2-
-
-
-
3Gain-
NR1I3-
-
-
-
3Gain-
NR2C2AP-
-
-
-
4Gain-
NR2F6-
-
-
-
4Gain-
NR4A2-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRDE2-
-
-
-
5Amp-
NRF1-
-
-
-
3Gain-
NRGN-
-
-
-
1Loss-
NRL-
-
-
-
5Amp-
NRP1-
-
-
-
5Amp-
NRP2-
-
-
-
3Gain-
NRXN3-
-
-
-
5Amp-
NSD2-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMCE2-
-
-
-
8Amp-
NSUN2-
-
-
-
3Gain-
NSUN6-
-
-
-
3Gain-
NT5C3A-
-
-
-
4Gain-
NT5E-
-
-
-
3Gain-
NTM-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTSR1-
-
-
-
4Gain-
NUAK2-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUBPL-
-
-
-
5Amp-
NUCKS1-
-
-
-
3Gain-
NUDCD1-
-
-
-
5Amp-
NUDCD3-
-
-
-
4Gain-
NUDT1-
-
-
-
4Gain-
NUDT13-
-
-
-
4Gain-
NUDT14-
-
-
-
5Amp-
NUDT15-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT19-
-
-
-
7Amp-
NUDT5-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
3Gain-
NUMB-
-
-
-
5Amp-
NUMBL-
-
-
-
10Amp-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
5Amp-
NUP205-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NUP35-
-
-
-
3Gain-
NUP54-
-
-
-
3GainNUP54--ART3
NUP58-
-
-
-
3Gain-
NUPL2-
-
-
-
4Gain-
NUPR2-
-
-
-
3Gain-
NVL-
-
-
-
3Gain-
NWD1-
-
-
-
4Gain-
NXNL1-
-
-
-
4Gain-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NXPH2-
-
-
-
3Gain-
NYAP2-
-
-
-
3Gain-
NYNRIN-
-
-
-
5Amp-
OAF-
-
-
-
1Loss-
OAT-
-
-
-
4Gain-
OAZ1-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OBSL1-
-
-
-
3Gain-
OC90-
-
-
-
8Amp-
OCEL1-
-
-
-
4Gain-
OCLM-
-
-
-
3Gain-
OCLN-
-
-
-
3Gain-
OCM-
-
-
-
4Gain-
ODAM-
-
-
-
3Gain-
ODAPH-
-
-
-
3Gain-
ODF1-
-
-
-
5Amp-
ODF3L2-
-
-
-
3Gain-
ODR4-
-
-
-
3Gain-
OGDH-
-
-
-
4Gain-
OGDHL-
-
-
-
3Gain-
OGFR-
-
-
-
4Gain-
OGFRL1-
-
-
-
3Gain-
OIT3-
-
-
-
4Gain-
OLA1-
-
-
-
3Gain-
OLAH-
-
-
-
3Gain-
OLFM4-
-
-
-
3Gain-
OLFML2B-
-
-
-
3Gain-
ONECUT3-
-
-
-
3Gain-
OOEP-
-
-
-
3Gain-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPRD1-
-
-
-
3Gain-
OPRL1-
-
-
-
4Gain-
OPRPN-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OPTN-
-
-
-
3Gain-
OR10D3-
-
-
-
1Loss-
OR10G2-
-
-
-
5Amp-
OR10G3-
-
-
-
5Amp-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H1-
-
-
-
3Gain-
OR10H2-
-
-
-
3Gain-
OR10H3-
-
-
-
3Gain-
OR10H4-
-
-
-
3Gain-
OR10H5-
-
-
-
3Gain-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10S1-
-
-
-
1Loss-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11G2-
-
-
-
5Amp-
OR11H4-
-
-
-
5Amp-
OR11H6-
-
-
-
5Amp-
OR13A1-
-
-
-
3Gain-
OR1I1-
-
-
-
3Gain-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2M4p.R223L
Missense
SNP
1.000
2--
OR4D5-
-
-
-
1Loss-
OR4E1-
-
-
-
5Amp-
OR4E2-
-
-
-
5Amp-
OR4F17-
-
-
-
3Gain-
OR4F6p.S7F
Missense
SNP
0.437
2--
OR4K1-
-
-
-
5Amp-
OR4K13-
-
-
-
5Amp-
OR4K14-
-
-
-
5Amp-
OR4K15-
-
-
-
5Amp-
OR4K17-
-
-
-
5Amp-
OR4K2-
-
-
-
5Amp-
OR4K5-
-
-
-
5Amp-
OR4L1-
-
-
-
5Amp-
OR4M1-
-
-
-
5Amp-
OR4N2-
-
-
-
5Amp-
OR4N5-
-
-
-
5Amp-
OR4Q2-
-
-
-
5Amp-
OR4Q3-
-
-
-
5Amp-
OR5AU1-
-
-
-
5Amp-
OR6B1-
-
-
-
3Gain-
OR6B2-
-
-
-
3Gain-
OR6B3-
-
-
-
3Gain-
OR6J1-
-
-
-
5Amp-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1-
-
-
-
1Loss-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6S1-
-
-
-
5Amp-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR7A10-
-
-
-
3Gain-
OR7A17-
-
-
-
3Gain-
OR7A5-
-
-
-
3Gain-
OR7C1-
-
-
-
3Gain-
OR7C2-
-
-
-
3Gain-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC2-
-
-
-
3Gain-
ORC3-
-
-
-
3Gain-
ORC4-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORMDL1-
-
-
-
3Gain-
OSBPL2-
-
-
-
4Gain-
OSBPL3-
-
-
-
4Gain-
OSBPL6-
-
-
-
3Gain-
OSGEP-
-
-
-
5Amp-
OSGEPL1-
-
-
-
3Gain-
OSGIN2-
-
-
-
5Amp-
OSMR-
-
-
-
5Amp-
OSR2-
-
-
-
5Amp-
OTOP1-
-
-
-
1Loss-
OTOS-
-
-
-
3Gain-
OTP-
-
-
-
3Gain-
OTUB2-
-
-
-
5Amp-
OTUD1-
-
-
-
3Gain-
OTUD6B-
-
-
-
5Amp-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OTX2-
-
-
-
5Amp-
OVOL3-
-
-
-
7Amp-
OXA1L-
-
-
-
5Amp-
OXCT1-
-
-
-
3Gain-
OXGR1-
-
-
-
3Gain-
OXR1-
-
-
-
5Amp-
P4HA1-
-
-
-
4Gain-
PABPC1-
-
-
-
5Amp-
PABPC3-
-
-
-
3Gain-
PABPN1-
-
-
-
5Amp-
PACS2-
-
-
-
5Amp-
PAF1-
-
-
-
10Amp-
PAFAH1B2-
-
-
-
1Loss-
PAG1-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAK4-
-
-
-
6Amp-
PALD1-
-
-
-
4Gain-
PALM-
-
-
-
3Gain-
PALM3-
-
-
-
5Amp-
PAN3-
-
-
-
3Gain-
PANX3-
-
-
-
1Loss-
PAPLN-
-
-
-
5Amp-
PAPOLA-
-
-
-
5Amp-
PAPOLB-
-
-
-
4Gain-
PAPPA2-
-
-
-
3Gain-
PAPSS2-
-
-
-
1Loss-
PAQR3-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PARD3-
-
-
-
5Amp-
PARD3B-
-
-
-
3Gain-
PARD6G-
-
-
-
1LossPARD6G--KIF1A
PARG-
-
-
-
3Gain-
PARM1-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP2-
-
-
-
5Amp-
PARP4-
-
-
-
3Gain-
PASK-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PAX3-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX9-
-
-
-
5Amp-
PAXIP1-
-
-
-
3Gain-
PBX1-
-
-
-
3Gain-
PBX4-
-
-
-
4Gain-
PBXIP1-
-
-
-
3Gain-
PCBD1-
-
-
-
4Gain-
PCCA-
-
-
-
3Gain-
PCDH10p.S793C
Missense
SNP
0.455
2--
PCDH15-
-
-
-
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH20-
-
-
-
3Gain-
PCDH7-
-
-
-
3Gain-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
4Gain-
PCGF3-
-
-
-
1Loss-
PCGF5-
-
-
-
3Gain-
PCID2-
-
-
-
3Gain-
PCK1-
-
-
-
6Amp-
PCK2-
-
-
-
5Amp-
PCMTD2-
-
-
-
4Gain-
PCNX1-
-
-
-
5Amp-
PCNX2-
-
-
-
3Gain-
PCNX4-
-
-
-
5Amp-
PCP4L1-
-
-
-
3Gain-
PCSK4-
-
-
-
3Gain-
PCSK7-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD2L-
-
-
-
7Amp-
PDCD5-
-
-
-
7Amp-
PDCD6-
-
-
-
3Gain-
PDCL3-
-
-
-
6Amp-
PDE11A-
-
-
-
3Gain-
PDE1A-
-
-
-
3Gain-
PDE1C-
-
-
-
4Gain-
PDE4C-
-
-
-
4Gain-
PDE4D-
-
-
-
3Gain-
PDE6B-
-
-
-
1Loss-
PDE6D-
-
-
-
3Gain-
PDE7A-
-
-
-
3Gain-
PDE8B-
-
-
-
3Gain-
PDGFA-
-
-
-
4Gain-
PDGFD-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDK1-
-
-
-
3Gain-
PDLIM3-
-
-
-
4Gain-
PDP1-
-
-
-
5Amp-
PDRG1-
-
-
-
3Gain-
PDS5B-
-
-
-
3Gain-
PDSS1-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDZD2-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAK3-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PECR-
-
-
-
3Gain-
PEG3-
-
-
-
1Loss-
PELI2-
-
-
-
5Amp-
PELO-
-
-
-
3Gain-
PEPD-
-
-
-
7Amp-
PER2-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
1Loss-
PF4-
-
-
-
3Gain-
PF4V1-
-
-
-
3Gain-
PFDN2-
-
-
-
3Gain-
PFDN4-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB3-
-
-
-
3Gain-
PFKP-
-
-
-
3Gain-
PGAM2-
-
-
-
4Gain-
PGAP1-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGF-
-
-
-
5Amp-
PGLS-
-
-
-
4Gain-
PGLYRP2-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM3-
-
-
-
3Gain-
PGPEP1-
-
-
-
4Gain-
PGR-
-
-
-
1Loss-
PHACTR3-
-
-
-
6Amp-
PHACTR4-
-
-
-
3Gain-
PHF11-
-
-
-
3Gain-
PHF20L1-
-
-
-
8Amp-
PHF3-
-
-
-
3Gain-
PHGDH-
-
-
-
3Gain-
PHIP-
-
-
-
3Gain-
PHKG1-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHLDB1-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHOSPHO2-
-
-
-
3Gain-
PHYH-
-
-
-
3Gain-
PI15-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIAS4-
-
-
-
4Gain-
PIBF1-
-
-
-
3Gain-
PID1-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGH-
-
-
-
5Amp-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIH1D2-
-
-
-
1Loss-
PIK3C2B-
-
-
-
3Gain-
PIK3CG-
-
-
-
3Gain-
PIK3R1-
-
-
-
3Gain-
PIK3R2-
-
-
-
4Gain-
PIKFYVE-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
3Gain-
PIP4P1-
-
-
-
5Amp-
PIP4P2-
-
-
-
5Amp-
PIP5K1A-
-
-
-
3Gain-
PIP5K1C-
-
-
-
4Gain-
PIRT-
-
-
-
1Loss-
PITRM1-
-
-
-
3Gain-
PJVK-
-
-
-
3Gain-
PKD1L1-
-
-
-
3Gain-
PKHD1L1p.A2104E
Missense
SNP
1.000
5Amp-
PKIA-
-
-
-
1Loss-
PKLR-
-
-
-
3Gain-
PKN1-
-
-
-
5Amp-
PKNOX2-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PKP4-
-
-
-
3Gain-
PLA2G12B-
-
-
-
4Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2R1-
-
-
-
3Gain-
PLAGL2-
-
-
-
3Gain-
PLAT-
-
-
-
1Loss-
PLAU-
-
-
-
4Gain-
PLCD4-
-
-
-
3Gain-
PLCG1-
-
-
-
4Gain-
PLCL1-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLD3-
-
-
-
10Amp-
PLD4-
-
-
-
5Amp-
PLEK2-
-
-
-
5Amp-
PLEKHA3-
-
-
-
3Gain-
PLEKHA6-
-
-
-
3Gain-
PLEKHA8-
-
-
-
4Gain-
PLEKHB2-
-
-
-
3Gain-
PLEKHD1-
-
-
-
5Amp-
PLEKHF1-
-
-
-
3Gain-
PLEKHF2-
-
-
-
5Amp-
PLEKHG2-
-
-
-
10Amp-
PLEKHG3-
-
-
-
5Amp-
PLEKHG4B-
-
-
-
3Gain-
PLEKHH1-
-
-
-
5Amp-
PLEKHJ1-
-
-
-
3Gain-
PLEKHM3-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLET1-
-
-
-
1Loss-
PLIN4-
-
-
-
4Gain-
PLIN5-
-
-
-
4Gain-
PLK2-
-
-
-
3Gain-
PLK5-
-
-
-
3Gain-
PLPP1-
-
-
-
3Gain-
PLPP2-
-
-
-
3Gain-
PLPPR3-
-
-
-
3Gain-
PLVAP-
-
-
-
4Gain-
PLXDC2-
-
-
-
3Gain-
PLXNA2-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PM20D1-
-
-
-
3Gain-
PM20D2-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMEPA1-
-
-
-
6Amp-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMP2-
-
-
-
5Amp-
PMP22-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PMS1-
-
-
-
3Gain-
PMS2-
-
-
-
4Gain-
PMVK-
-
-
-
3Gain-
PNKD-
-
-
-
3Gain-
PNMA1-
-
-
-
5Amp-
PNN-
-
-
-
5Amp-
PNP-
-
-
-
5Amp-
PNPLA8-
-
-
-
3Gain-
PNRC1-
-
-
-
3Gain-
PODNL1-
-
-
-
5Amp-
PODXL-
-
-
-
3Gain-
POFUT1-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLD2-
-
-
-
4Gain-
POLE2-
-
-
-
5Amp-
POLM-
-
-
-
4Gain-
POLN-
-
-
-
1Loss-
POLR1D-
-
-
-
3Gain-
POLR2E-
-
-
-
3Gain-
POLR2I-
-
-
-
7Amp-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2K-
-
-
-
5Amp-
POLR3A-
-
-
-
4Gain-
POLR3C-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLRMT-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMK-
-
-
-
1Loss-
POMP-
-
-
-
3Gain-
POMT2-
-
-
-
5Amp-
POP1-
-
-
-
5Amp-
POP4-
-
-
-
3Gain-
POSTN-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POU2AF1-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU2F3-
-
-
-
1Loss-
POU3F3-
-
-
-
5Amp-
POU4F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
8Amp-
POU6F2-
-
-
-
4Gain-
PPA1-
-
-
-
4Gain-
PPBP-
-
-
-
3Gain-
PPDPF-
-
-
-
4Gain-
PPEF2-
-
-
-
3Gain-
PPFIA4-
-
-
-
3Gain-
PPIA-
-
-
-
4Gain-
PPIF-
-
-
-
4Gain-
PPIG-
-
-
-
3Gain-
PPIL3-
-
-
-
3Gain-
PPM1A-
-
-
-
5Amp-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R13B-
-
-
-
5Amp-
PPP1R14A-
-
-
-
6Amp-
PPP1R15B-
-
-
-
3Gain-
PPP1R17-
-
-
-
4Gain-
PPP1R1C-
-
-
-
3Gain-
PPP1R36-
-
-
-
5Amp-
PPP1R3A-
-
-
-
3Gain-
PPP1R3C-
-
-
-
3Gain-
PPP1R3D-
-
-
-
6Amp-
PPP1R3E-
-
-
-
5Amp-
PPP1R42-
-
-
-
3Gain-
PPP1R7-
-
-
-
1Loss-
PPP1R8-
-
-
-
3Gain-
PPP2R1B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R3C-
-
-
-
5Amp-
PPP2R5A-
-
-
-
3Gain-
PPP2R5C-
-
-
-
5Amp-
PPP2R5E-
-
-
-
5Amp-
PPP3CB-
-
-
-
4Gain-
PPP4R3Ap.F731L
Missense
SNP
0.170
5Amp-
PPP4R4-
-
-
-
5Amp-
PPWD1-
-
-
-
3Gain-
PQLC1-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRB3p.P305S
Missense
SNP
0.483
2--
PRCC-
-
-
-
3Gain-
PRDM10-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDM8-
-
-
-
3Gain-
PRDM9-
-
-
-
6Amp-
PRDX2-
-
-
-
5Amp-
PRDX6-
-
-
-
3Gain-
PRELID3B-
-
-
-
6Amp-
PRELP-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRF1-
-
-
-
4Gain-
PRG4-
-
-
-
3Gain-
PRIMA1-
-
-
-
5Amp-
PRIMPOL-
-
-
-
4Gain-
PRKAA1-
-
-
-
3Gain-
PRKACA-
-
-
-
5Amp-
PRKAG2-
-
-
-
3Gain-
PRKAG3-
-
-
-
3Gain-
PRKAR1B-
-
-
-
4Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCHp.F514L
Missense
SNP
0.184
5Amp-
PRKCQ-
-
-
-
3Gain-
PRKD1-
-
-
-
5Amp-
PRKG1-
-
-
-
3Gain-
PRKG2-
-
-
-
3Gain-
PRKRA-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRLH-
-
-
-
3Gain-
PRLR-
-
-
-
3Gain-
PRMT5-
-
-
-
5Amp-
PROCR-
-
-
-
3Gain-
PRODH2-
-
-
-
7Amp-
PROM2-
-
-
-
5Amp-
PROSER1-
-
-
-
3Gain-
PROSER2-
-
-
-
3Gain-
PROSER3-
-
-
-
7Amp-
PROX1-
-
-
-
3Gain-
PROX2-
-
-
-
5Amp-
PROZ-
-
-
-
3Gain-
PRPF18-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF39-
-
-
-
5Amp-
PRPF40A-
-
-
-
3Gain-
PRPF6-
-
-
-
4Gain-
PRPS1L1-
-
-
-
4Gain-
PRR15-
-
-
-
4Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR26-
-
-
-
3Gain-
PRR27-
-
-
-
3Gain-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS35-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS56-
-
-
-
3Gain-
PRSS57-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PRTFDC1-
-
-
-
3Gain-
PRTN3-
-
-
-
3Gain-
PRUNE1-
-
-
-
3Gain-
PRX-
-
-
-
10Amp-
PSAP-
-
-
-
4Gain-
PSCA-
-
-
-
8Amp-
PSEN1-
-
-
-
5Amp-
PSEN2-
-
-
-
3Gain-
PSENEN-
-
-
-
7Amp-
PSKH2-
-
-
-
5Amp-
PSMA2-
-
-
-
4Gain-
PSMA3-
-
-
-
5Amp-
PSMA6-
-
-
-
5Amp-
PSMA7-
-
-
-
4Gain-
PSMB11-
-
-
-
5Amp-
PSMB4-
-
-
-
3Gain-
PSMB5-
-
-
-
5Amp-
PSMC1-
-
-
-
5Amp-
PSMC2-
-
-
-
3Gain-
PSMC4-
-
-
-
10Amp-
PSMC6-
-
-
-
5Amp-
PSMD1-
-
-
-
3Gain-
PSMD14-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSMD8-
-
-
-
6Amp-
PSME1-
-
-
-
5Amp-
PSME2-
-
-
-
5Amp-
PSMG3-
-
-
-
4Gain-
PSPC1-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PTAFR-
-
-
-
3Gain-
PTBP1-
-
-
-
3Gain-
PTCD2-
-
-
-
3Gain-
PTCHD3-
-
-
-
3Gain-
PTDSS1-
-
-
-
5Amp-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
3Gain-
PTF1A-
-
-
-
3Gain-
PTGDR-
-
-
-
5Amp-
PTGER1-
-
-
-
5Amp-
PTGER2-
-
-
-
5Amp-
PTGER4-
-
-
-
3Gain-
PTGFRN-
-
-
-
3Gain-
PTGR2-
-
-
-
5Amp-
PTGS2-
-
-
-
3Gain-
PTH2R-
-
-
-
3Gain-
PTK2-
-
-
-
8Amp-
PTK6-
-
-
-
4Gain-
PTMA-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTP4A1-
-
-
-
3Gain-
PTP4A3-
-
-
-
8Amp-
PTPN14-
-
-
-
3Gain-
PTPN18-
-
-
-
3Gain-
PTPN20-
-
-
-
3Gain-
PTPN21p.S109F
Missense
SNP
0.194
5Amp-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRN-
-
-
-
3Gain-
PTPRN2-
-
-
-
3Gain-
PTPRT-
-
-
-
4Gain-
PTPRZ1-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PURB-
-
-
-
4Gain-
PUS3-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PXMP4-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYGL-
-
-
-
5Amp-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QSOX1-
-
-
-
3Gain-
R3HDM1-
-
-
-
3Gain-
R3HDM4-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB15-
-
-
-
5Amp-
RAB17-
-
-
-
3Gain-
RAB18-
-
-
-
3Gain-
RAB19-
-
-
-
3Gain-
RAB20-
-
-
-
3Gain-
RAB22A-
-
-
-
6Amp-
RAB25-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB2B-
-
-
-
5Amp-
RAB39A-
-
-
-
1Loss-
RAB3A-
-
-
-
4Gain-
RAB3C-
-
-
-
3Gain-
RAB3GAP1-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB42-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB4B-
-
-
-
10Amp-
RAB4B-EGLN2-
-
-
-
10Amp-
RAB6C-
-
-
-
3Gain-
RAB6D-
-
-
-
3Gain-
RAB8A-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABGGTA-
-
-
-
5Amp-
RABIF-
-
-
-
3Gain-
RAC1-
-
-
-
4Gain-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
3Gain-
RAD21-
-
-
-
5Amp-
RAD23A-
-
-
-
5Amp-
RAD51B-
-
-
-
5Amp-
RAD54B-
-
-
-
5Amp-
RADIL-
-
-
-
4Gain-
RAE1-
-
-
-
6Amp-
RAI14-
-
-
-
3Gain-
RALA-
-
-
-
4Gain-
RALGAPA1-
-
-
-
5Amp-
RALGPS2-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
5Amp-
RAMP1-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RANBP3L-
-
-
-
5Amp-
RAP2A-
-
-
-
3Gain-
RAPGEF4-
-
-
-
3Gain-
RAPGEF5-
-
-
-
4Gain-
RAPH1-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RARS2-
-
-
-
3Gain-
RASA3-
-
-
-
3Gain-
RASA4p.K15N
Missense
SNP
0.272
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASAL3-
-
-
-
3Gain-
RASGEF1A-
-
-
-
3Gain-
RASGRP4-
-
-
-
6Amp-
RASL11A-
-
-
-
3Gain-
RASSF4-
-
-
-
3Gain-
RASSF5-
-
-
-
3Gain-
RASSF6-
-
-
-
3Gain-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
4Gain-
RB1-
-
-
-
3Gain-
RBAK-
-
-
-
4Gain-
RBAK-RBAKDN-
-
-
-
4Gain-
RBBP5-
-
-
-
3Gain-
RBBP8NL-
-
-
-
4Gain-
RBFA-
-
-
-
1Loss-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
5Amp-
RBM17-
-
-
-
3Gain-
RBM23-
-
-
-
5Amp-
RBM25-
-
-
-
5Amp-
RBM26-
-
-
-
3Gain-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM38-
-
-
-
6Amp-
RBM39-
-
-
-
3Gain-
RBM42-
-
-
-
7Amp-
RBM43-
-
-
-
3Gain-
RBM44-
-
-
-
3Gain-
RBM45-
-
-
-
3Gain-
RBM7-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS1-
-
-
-
3Gain-
RBP3-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCBTB1-
-
-
-
3Gain-
RCBTB2-
-
-
-
3Gain-
RCC1-
-
-
-
3Gain-
RCHY1-
-
-
-
3Gain-
RCOR1-
-
-
-
5Amp-
RCOR3-
-
-
-
3Gain-
RCSD1p.E316K
Missense
SNP
0.314
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
5Amp-
RDH10-
-
-
-
3Gain-
RDH11-
-
-
-
5Amp-
RDH12-
-
-
-
5Amp-
RDX-
-
-
-
1Loss-
REC8-
-
-
-
5Amp-
REEP6-
-
-
-
3Gain-
REG4-
-
-
-
3Gain-
RELCH-
-
-
-
1Loss-
RELN-
-
-
-
3Gain-
REM1-
-
-
-
3Gain-
REM2-
-
-
-
5Amp-
REN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
RESP18-
-
-
-
3Gain-
RET-
-
-
-
3Gain-
RETREG1-
-
-
-
3Gain-
RETREG2-
-
-
-
3Gain-
REV1-
-
-
-
6Amp-
REX1BD-
-
-
-
4Gain-
REXO1-
-
-
-
3Gain-
REXO2-
-
-
-
1Loss-
RFC3-
-
-
-
3Gain-
RFTN2-
-
-
-
3Gain-
RFX1-
-
-
-
5Amp-
RFX5-
-
-
-
3Gain-
RFX8-
-
-
-
6Amp-
RFXANK-
-
-
-
4Gain-
RFXAP-
-
-
-
3Gain-
RGCC-
-
-
-
3Gain-
RGL1-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS12-
-
-
-
1Loss-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS19-
-
-
-
4Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
5Amp-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6-
-
-
-
5Amp-
RGS7BP-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGS9BP-
-
-
-
7Amp-
RGSL1-
-
-
-
3Gain-
RHBDD1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOJ-
-
-
-
5Amp-
RHOU-
-
-
-
3Gain-
RHPN1-
-
-
-
8Amp-
RHPN2-
-
-
-
7Amp-
RICTOR-
-
-
-
5Amp-
RIDA-
-
-
-
5Amp-
RIF1p.S787L
Missense
SNP
0.308
3Gain-
RIIAD1-
-
-
-
3Gain-
RIMS1-
-
-
-
3Gain-
RIMS2-
-
-
-
5Amp-
RIN3-
-
-
-
5Amp-
RINL-
-
-
-
6Amp-
RINT1-
-
-
-
3Gain-
RIOX1-
-
-
-
5Amp-
RIPK2-
-
-
-
5Amp-
RIPK3-
-
-
-
5Amp-
RIPPLY2-
-
-
-
3Gain-
RIT1-
-
-
-
3Gain-
RLN3-
-
-
-
5Amp-
RMDN1-
-
-
-
5Amp-
RNASE1-
-
-
-
5Amp-
RNASE10-
-
-
-
5Amp-
RNASE11-
-
-
-
5Amp-
RNASE12-
-
-
-
5Amp-
RNASE13-
-
-
-
5Amp-
RNASE2-
-
-
-
5Amp-
RNASE3-
-
-
-
5Amp-
RNASE4-
-
-
-
5Amp-
RNASE6-
-
-
-
5Amp-
RNASE7-
-
-
-
5Amp-
RNASE8-
-
-
-
5Amp-
RNASE9-
-
-
-
5Amp-
RNASEH2A-
-
-
-
5Amp-
RNASEH2B-
-
-
-
3Gain-
RNASEL-
-
-
-
3Gain-
RND3-
-
-
-
3Gain-
RNF113B-
-
-
-
3Gain-
RNF115-
-
-
-
3Gain-
RNF126-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF139-
-
-
-
8Amp-
RNF148-
-
-
-
3Gain-
RNF149-
-
-
-
6Amp-
RNF152-
-
-
-
1Loss-
RNF17-
-
-
-
3Gain-
RNF170-
-
-
-
1Loss-
RNF180-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
5Amp-
RNF2-
-
-
-
3Gain-
RNF212-
-
-
-
1Loss-
RNF212B-
-
-
-
5Amp-
RNF214-
-
-
-
1Loss-
RNF216-
-
-
-
4Gain-
RNF219-
-
-
-
3Gain-
RNF225-
-
-
-
1Loss-
RNF25-
-
-
-
3Gain-
RNF26-
-
-
-
1Loss-
RNF31-
-
-
-
5Amp-
RNF32-
-
-
-
3Gain-
RNF4-
-
-
-
1Loss-
RNF6-
-
-
-
3Gain-
RNGTT-
-
-
-
3Gain-
RNLS-
-
-
-
1Loss-
RNPEP-
-
-
-
3Gain-
RNPEPL1-
-
-
-
3Gain-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROMO1-
-
-
-
3Gain-
ROPN1L-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP9-
-
-
-
4Gain-
RPA2-
-
-
-
3Gain-
RPE-
-
-
-
3Gain-
RPGRIP1-
-
-
-
5Amp-
RPL10L-
-
-
-
5Amp-
RPL18A-
-
-
-
4Gain-
RPL21-
-
-
-
3Gain-
RPL30-
-
-
-
5Amp-
RPL31-
-
-
-
6Amp-
RPL36AL-
-
-
-
5Amp-
RPL37-
-
-
-
3Gain-
RPL37A-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPP30-
-
-
-
3Gain-
RPP38-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPRM-
-
-
-
3Gain-
RPS15-
-
-
-
3Gain-
RPS16-
-
-
-
10Amp-
RPS21-
-
-
-
4Gain-
RPS23-
-
-
-
3Gain-
RPS24-
-
-
-
4Gain-
RPS25-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS29-
-
-
-
5Amp-
RPS5-
-
-
-
1Loss-
RPS6KA5-
-
-
-
5Amp-
RPS6KC1-
-
-
-
3Gain-
RPS6KL1-
-
-
-
5Amp-
RPTN-
-
-
-
3Gain-
RPUSD4-
-
-
-
1Loss-
RRAGD-
-
-
-
3Gain-
RRM2B-
-
-
-
5Amp-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSPH10B-
-
-
-
4Gain-
RSPH10B2-
-
-
-
4Gain-
RSPO2-
-
-
-
5Amp-
RSU1-
-
-
-
3Gain-
RTBDN-
-
-
-
5Amp-
RTEL1-
-
-
-
4Gain-
RTEL1-TNFRSF6B-
-
-
-
4Gain-
RTF2-
-
-
-
3Gain-
RTL1-
-
-
-
5Amp-
RTN1-
-
-
-
5Amp-
RTP5-
-
-
-
1Loss-
RTRAF-
-
-
-
5Amp-
RTTN-
-
-
-
1Loss-
RUBCNL-
-
-
-
3Gain-
RUFY3-
-
-
-
3Gain-
RUFY4-
-
-
-
3Gain-
RUNX1T1-
-
-
-
5Amp-
RUSC1-
-
-
-
3Gain-
RWDD2A-
-
-
-
3Gain-
RWDD4-
-
-
-
4Gain-
RXFP2-
-
-
-
3Gain-
RXFP3-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR1-
-
-
-
6Amp-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100P-
-
-
-
1Loss-
S100Z-
-
-
-
3Gain-
S1PR4-
-
-
-
3Gain-
SACS-
-
-
-
3Gain-
SAG-
-
-
-
3Gain-
SALL2-
-
-
-
5Amp-
SALL3-
-
-
-
1Loss-
SAMD1-
-
-
-
5Amp-
SAMD10-
-
-
-
4Gain-
SAMD12-
-
-
-
5Amp-
SAMD15-
-
-
-
5Amp-
SAMD4A-
-
-
-
5Amp-
SAMD4B-
-
-
-
10Amp-
SAMD8-
-
-
-
4Gain-
SAP18-
-
-
-
3Gain-
SAR1A-
-
-
-
4Gain-
SARS2-
-
-
-
6Amp-
SATB2-
-
-
-
3Gain-
SAV1-
-
-
-
5Amp-
SBNO2-
-
-
-
3Gain-
SBSN-
-
-
-
7Amp-
SBSPON-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAMP1-
-
-
-
3Gain-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
3Gain-
SCARB2-
-
-
-
3Gain-
SCEL-
-
-
-
3Gain-
SCFD1-
-
-
-
5Amp-
SCG2-
-
-
-
3Gain-
SCGB2B2-
-
-
-
7Amp-
SCIN-
-
-
-
4Gain-
SCLY-
-
-
-
3Gain-
SCN1A-
-
-
-
3Gain-
SCN1B-
-
-
-
7Amp-
SCN2A-
-
-
-
3Gain-
SCN2B-
-
-
-
1Loss-
SCN3A-
-
-
-
3Gain-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCN7A-
-
-
-
3Gain-
SCN9A-
-
-
-
3Gain-
SCNM1-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCRN1-
-
-
-
4Gain-
SCRN2p.L172V
Missense
SNP
0.486
2--
SCRN3-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDAD1-
-
-
-
3Gain-
SDC2-
-
-
-
5Amp-
SDE2-
-
-
-
3Gain-
SDHA-
-
-
-
3Gain-
SDHAF1-
-
-
-
7Amp-
SDHAF4-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK1-
-
-
-
4Gain-
SDR39U1-
-
-
-
5Amp-
SEC11C-
-
-
-
1Loss-
SEC16B-
-
-
-
3Gain-
SEC22B-
-
-
-
3Gain-
SEC23A-
-
-
-
5Amp-
SEC24C-
-
-
-
4Gain-
SEC61A2-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SEL1L-
-
-
-
5Amp-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOP-
-
-
-
3Gain-
SELENOV-
-
-
-
10Amp-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA4C-
-
-
-
6Amp-
SEMA5A-
-
-
-
3Gain-
SEMA6B-
-
-
-
4Gain-
SEMA6C-
-
-
-
3Gain-
SENP6-
-
-
-
3Gain-
SEPHS1-
-
-
-
3Gain-
SEPT11-
-
-
-
3Gain-
SEPT14-
-
-
-
3Gain-
SEPT2-
-
-
-
1Loss-
SEPT7-
-
-
-
4Gain-
SERF1A-
-
-
-
3Gain-
SERF1B-
-
-
-
3Gain-
SERP2-
-
-
-
3Gain-
SERPINA1-
-
-
-
5Amp-
SERPINA10-
-
-
-
5Amp-
SERPINA11-
-
-
-
5Amp-
SERPINA12-
-
-
-
5Amp-
SERPINA3-
-
-
-
5Amp-
SERPINA4-
-
-
-
5Amp-
SERPINA5-
-
-
-
5Amp-
SERPINA6-
-
-
-
5Amp-
SERPINA9-
-
-
-
5Amp-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPINE2-
-
-
-
3Gain-
SERPINE3-
-
-
-
3Gain-
SERTAD1-
-
-
-
10Amp-
SERTAD3-
-
-
-
10Amp-
SERTAD4-
-
-
-
3Gain-
SERTM1-
-
-
-
3Gain-
SESN2-
-
-
-
3Gain-
SESTD1-
-
-
-
3Gain-
SETD1Bp.R1025Q
Missense
SNP
1.000
2--
SETD3-
-
-
-
5Amp-
SETD9-
-
-
-
3Gain-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
3Gain-
SF3A2-
-
-
-
3Gain-
SF3B1-
-
-
-
3Gain-
SFMBT2-
-
-
-
3Gain-
SFRP1-
-
-
-
1Loss-
SFRP4-
-
-
-
4Gain-
SFT2D2-
-
-
-
3Gain-
SFTA3-
-
-
-
5Amp-
SGCG-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SGMS1-
-
-
-
3Gain-
SGO2-
-
-
-
3Gain-
SGPL1-
-
-
-
4Gain-
SGPP1-
-
-
-
5Amp-
SGPP2-
-
-
-
3Gain-
SGTA-
-
-
-
3Gain-
SGTB-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH3BGRL2-
-
-
-
3Gain-
SH3BP2-
-
-
-
1Loss-
SH3BP4-
-
-
-
3Gain-
SH3GL1-
-
-
-
4Gain-
SH3PXD2Bp.Q320H
Missense
SNP
0.522
2--
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHD-
-
-
-
4Gain-
SHE-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SHISA2-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA6-
-
-
-
1Loss-
SHISAL2B-
-
-
-
3Gain-
SHKBP1-
-
-
-
10Amp-
SHLD2-
-
-
-
1Loss-
SHLD3-
-
-
-
3Gain-
SHROOM3-
-
-
-
3Gain-
SIAE-
-
-
-
1Loss-
SIAH3-
-
-
-
3Gain-
SIDT2-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIN3B-
-
-
-
4Gain-
SIPA1L1-
-
-
-
5Amp-
SIPA1L2-
-
-
-
3Gain-
SIPA1L3-
-
-
-
6Amp-
SIRT2-
-
-
-
6Amp-
SIRT6-
-
-
-
4Gain-
SIVA1-
-
-
-
5Amp-
SIX1-
-
-
-
5Amp-
SIX4-
-
-
-
5Amp-
SIX6-
-
-
-
5Amp-
SKA3-
-
-
-
3Gain-
SKAP2-
-
-
-
4Gain-
SKIDA1-
-
-
-
3Gain-
SKP2-
-
-
-
5Amp-
SLA-
-
-
-
8Amp-
SLAIN1-
-
-
-
3Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLBP-
-
-
-
1Loss-
SLC10A1-
-
-
-
5Amp-
SLC10A2-
-
-
-
3Gain-
SLC10A5-
-
-
-
5Amp-
SLC11A1-
-
-
-
3Gain-
SLC12A7-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC15A1-
-
-
-
3Gain-
SLC16A14-
-
-
-
3Gain-
SLC17A5-
-
-
-
3Gain-
SLC17A9-
-
-
-
4Gain-
SLC18A3-
-
-
-
3Gain-
SLC19A2-
-
-
-
3Gain-
SLC19A3-
-
-
-
3Gain-
SLC1A3-
-
-
-
5Amp-
SLC1A6-
-
-
-
3Gain-
SLC20A2-
-
-
-
1Loss-
SLC22A15-
-
-
-
3Gain-
SLC22A17-
-
-
-
5Amp-
SLC23A3-
-
-
-
3Gain-
SLC24A4-
-
-
-
5Amp-
SLC25A12-
-
-
-
3Gain-
SLC25A15-
-
-
-
3Gain-
SLC25A21-
-
-
-
5Amp-
SLC25A29-
-
-
-
5Amp-
SLC25A30-
-
-
-
3Gain-
SLC25A32-
-
-
-
5Amp-
SLC25A4-
-
-
-
4Gain-
SLC25A42-
-
-
-
4Gain-
SLC25A44-
-
-
-
3Gain-
SLC25A47-
-
-
-
5Amp-
SLC26A1-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7-
-
-
-
5Amp-
SLC26A9-
-
-
-
3Gain-
SLC27A1-
-
-
-
4Gain-
SLC27A3-
-
-
-
3Gain-
SLC27A5-
-
-
-
1Loss-
SLC29A3-
-
-
-
4Gain-
SLC29A4-
-
-
-
4Gain-
SLC2A4RG-
-
-
-
4Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A5-
-
-
-
3Gain-
SLC30A8-
-
-
-
5Amp-
SLC35A1-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35E1-
-
-
-
4Gain-
SLC35F2-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35F4-
-
-
-
5Amp-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC37A4-
-
-
-
1Loss-
SLC38A11-
-
-
-
3Gain-
SLC38A6-
-
-
-
5Amp-
SLC38A9-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A10-
-
-
-
3Gain-
SLC39A12-
-
-
-
3Gain-
SLC39A2-
-
-
-
5Amp-
SLC39A3-
-
-
-
3Gain-
SLC39A9-
-
-
-
5Amp-
SLC40A1-
-
-
-
3Gain-
SLC41A1-
-
-
-
3Gain-
SLC45A2-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
8Amp-
SLC46A3-
-
-
-
3Gain-
SLC49A3-
-
-
-
1Loss-
SLC4A10-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A3-
-
-
-
3Gain-
SLC4A4-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC5A5-
-
-
-
4Gain-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A3-
-
-
-
3Gain-
SLC7A1-
-
-
-
3Gain-
SLC7A10-
-
-
-
7Amp-
SLC7A13-
-
-
-
5Amp-
SLC7A7-
-
-
-
5Amp-
SLC7A8-
-
-
-
5Amp-
SLC7A9-
-
-
-
7Amp-
SLC8A3p.E543Q
Missense
SNP
0.398
5Amp-
SLC9A2-
-
-
-
6Amp-
SLC9A3-
-
-
-
3Gain-
SLC9A4-
-
-
-
6Amp-
SLC9C2-
-
-
-
3Gain-
SLCO4A1-
-
-
-
4Gain-
SLCO5A1-
-
-
-
3Gain-
SLIRP-
-
-
-
5Amp-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLN-
-
-
-
1Loss-
SLURP1-
-
-
-
8Amp-
SLURP2-
-
-
-
8Amp-
SMAD9-
-
-
-
3Gain-
SMAP1-
-
-
-
3Gain-
SMARCAL1-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMIM15-
-
-
-
3Gain-
SMIM17-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM2-
-
-
-
3Gain-
SMIM21-
-
-
-
1Loss-
SMIM24-
-
-
-
3Gain-
SMIM30-
-
-
-
3Gain-
SMIM7-
-
-
-
4Gain-
SMIM8-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMN1-
-
-
-
3Gain-
SMN2-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMOC1-
-
-
-
5Amp-
SMPD4-
-
-
-
3Gain-
SMPDL3B-
-
-
-
3Gain-
SMR3A-
-
-
-
3Gain-
SMR3B-
-
-
-
3Gain-
SMYD2-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAP91-
-
-
-
3Gain-
SNAPC1-
-
-
-
5Amp-
SNAPIN-
-
-
-
3Gain-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNED1-
-
-
-
1Loss-
SNHG28-
-
-
-
3Gain-
SNORC-
-
-
-
3Gain-
SNRNP200-
-
-
-
6Amp-
SNRPA-
-
-
-
10Amp-
SNRPE-
-
-
-
3Gain-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
5Amp-
SNW1-
-
-
-
5Amp-
SNX10-
-
-
-
4Gain-
SNX13-
-
-
-
4Gain-
SNX14-
-
-
-
3Gain-
SNX16-
-
-
-
5Amp-
SNX18-
-
-
-
3Gain-
SNX19-
-
-
-
1Loss-
SNX25-
-
-
-
4Gain-
SNX27-
-
-
-
3Gain-
SNX31-
-
-
-
5Amp-
SNX6-
-
-
-
5Amp-
SNX8-
-
-
-
4Gain-
SOAT1-
-
-
-
3Gain-
SOCS4-
-
-
-
5Amp-
SOCS6-
-
-
-
1Loss-
SOHLH2-
-
-
-
3Gain-
SORBS1p.S1085L
Missense
SNP
0.469
2--
SORBS2-
-
-
-
4Gain-
SORCS2-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOS2-
-
-
-
5Amp-
SOSTDC1-
-
-
-
4Gain-
SOWAHB-
-
-
-
3Gain-
SOX1-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX17p.E170*
Nonsense
SNP
0.583
2--
SOX18-
-
-
-
4Gain-
SOX21-
-
-
-
3Gain-
SP100-
-
-
-
3Gain-
SP110-
-
-
-
3Gain-
SP140-
-
-
-
3Gain-
SP140L-
-
-
-
3Gain-
SP3-
-
-
-
3Gain-
SP4-
-
-
-
4Gain-
SP5-
-
-
-
3Gain-
SP8-
-
-
-
4Gain-
SP9-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPACA1-
-
-
-
3Gain-
SPACA7-
-
-
-
3Gain-
SPAG1-
-
-
-
5Amp-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG16-
-
-
-
3Gain-
SPAG17-
-
-
-
3Gain-
SPAG4-
-
-
-
3Gain-
SPAG6-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPART-
-
-
-
3Gain-
SPATA13-
-
-
-
3Gain-
SPATA17-
-
-
-
3Gain-
SPATA19-
-
-
-
1Loss-
SPATA3-
-
-
-
3Gain-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA7-
-
-
-
5Amp-
SPATS2L-
-
-
-
3Gain-
SPC25-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPECC1p.R511C
Missense
SNP
0.994
2--
SPEF2-
-
-
-
3Gain-
SPEG-
-
-
-
3Gain-
SPERT-
-
-
-
3Gain-
SPHAR-
-
-
-
3Gain-
SPHKAP-
-
-
-
3Gain-
SPINT2-
-
-
-
6Amp-
SPO11-
-
-
-
6Amp-
SPOCK2-
-
-
-
4Gain-
SPON2-
-
-
-
1Loss-
SPOPL-
-
-
-
3Gain-
SPP2-
-
-
-
3Gain-
SPPL2B-
-
-
-
3Gain-
SPRED3-
-
-
-
6Amp-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY2-
-
-
-
3Gain-
SPRYD7-
-
-
-
3Gain-
SPTA1-
-
-
-
3Gain-
SPTB-
-
-
-
5Amp-
SPTBN4-
-
-
-
10Amp-
SPTLC2-
-
-
-
5Amp-
SPTLC3p.E189Q
Missense
SNP
0.524
2--
SPTSSA-
-
-
-
5Amp-
SQLE-
-
-
-
8Amp-
SRD5A1-
-
-
-
3Gain-
SREK1-
-
-
-
3Gain-
SREK1IP1-
-
-
-
3Gain-
SRGAP2-
-
-
-
3Gain-
SRGAP2C-
-
-
-
3Gain-
SRGN-
-
-
-
4Gain-
SRMS-
-
-
-
4Gain-
SRP54-
-
-
-
5Amp-
SRP9-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRSF12-
-
-
-
3Gain-
SRSF5-
-
-
-
5Amp-
SS18L1-
-
-
-
4Gain-
SSB-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
3Gain-
SSBP4-
-
-
-
4Gain-
SSMEM1-
-
-
-
3Gain-
SSPO-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
SSTR1-
-
-
-
5Amp-
SSU72P8-
-
-
-
3Gain-
ST14-
-
-
-
1Loss-
ST3GAL1-
-
-
-
8Amp-
ST3GAL4-
-
-
-
1Loss-
ST7-
-
-
-
3Gain-
ST8SIA6-
-
-
-
3Gain-
STAMp.S261F
Missense
SNP
0.709
3Gain-
STAM2-
-
-
-
3Gain-
STAP1p.D220H
Missense
SNP
0.254
3Gain-
STAP2-
-
-
-
4Gain-
STARD13-
-
-
-
3Gain-
STARD3NL-
-
-
-
4Gain-
STARD7-
-
-
-
6Amp-
STAT1-
-
-
-
3Gain-
STAT4-
-
-
-
3Gain-
STATH-
-
-
-
3Gain-
STAU2-
-
-
-
3Gain-
STBD1-
-
-
-
3Gain-
STEAP1B-
-
-
-
4Gain-
STK11-
-
-
-
3Gain-
STK11IP-
-
-
-
3Gain-
STK16-
-
-
-
3Gain-
STK17A-
-
-
-
4Gain-
STK17B-
-
-
-
3Gain-
STK24-
-
-
-
3Gain-
STK25-
-
-
-
1Loss-
STK3-
-
-
-
5Amp-
STK31-
-
-
-
4Gain-
STK32B-
-
-
-
1Loss-
STK36-
-
-
-
3Gain-
STK39-
-
-
-
3Gain-
STMN2-
-
-
-
1Loss-
STMN3-
-
-
-
4Gain-
STMP1-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STON2-
-
-
-
5Amp-
STOX1-
-
-
-
4Gain-
STOX2-
-
-
-
4Gain-
STRA8-
-
-
-
3Gain-
STRADB-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STRN3-
-
-
-
5Amp-
STT3A-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX10-
-
-
-
5Amp-
STX12-
-
-
-
3Gain-
STX16-
-
-
-
6Amp-
STX16-NPEPL1-
-
-
-
6Amp-
STX18-
-
-
-
1Loss-
STX6-
-
-
-
3Gain-
STXBP5Lp.L309F
Missense
SNP
0.500
2--
STXBP6-
-
-
-
5Amp-
STYX-
-
-
-
5Amp-
SUB1-
-
-
-
3Gain-
SUCLA2-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUGCT-
-
-
-
4Gain-
SUGP1-
-
-
-
4Gain-
SUGP2-
-
-
-
4Gain-
SUGT1-
-
-
-
3Gain-
SULF1-
-
-
-
3Gain-
SULT1B1-
-
-
-
3Gain-
SULT1E1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUMO1-
-
-
-
3Gain-
SUN1-
-
-
-
4Gain-
SUN3-
-
-
-
3Gain-
SUN5-
-
-
-
3Gain-
SUPT16H-
-
-
-
5Amp-
SUPT20H-
-
-
-
3Gain-
SUPT5H-
-
-
-
10Amp-
SUPV3L1-
-
-
-
4Gain-
SUSD4-
-
-
-
3Gain-
SUSD6-
-
-
-
5Amp-
SUV39H2-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SVIL-
-
-
-
3Gain-
SVOPL-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYBU-
-
-
-
5Amp-
SYCE2-
-
-
-
5Amp-
SYCN-
-
-
-
6Amp-
SYCP2-
-
-
-
6Amp-
SYDE1-
-
-
-
3Gain-
SYNCRIP-
-
-
-
3Gain-
SYNDIG1p.K123E
Missense
SNP
1.000
2--
SYNDIG1L-
-
-
-
5Amp-
SYNE2-
-
-
-
5Amp-
SYNE3-
-
-
-
5Amp-
SYNE4-
-
-
-
7Amp-
SYNJ2BP-
-
-
-
5Amp-
SYNJ2BP-COX16-
-
-
-
5Amp-
SYNPO2L-
-
-
-
4Gain-
SYPL1-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT15-
-
-
-
3Gain-
SYT16-
-
-
-
5Amp-
SYT2-
-
-
-
3Gain-
TACC3-
-
-
-
1Loss-
TACR2-
-
-
-
4Gain-
TADA1-
-
-
-
3Gain-
TADA2B-
-
-
-
1Loss-
TAF12-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF2-
-
-
-
5Amp-
TAF3-
-
-
-
3Gain-
TAF4-
-
-
-
4Gain-
TAF5L-
-
-
-
3Gain-
TAF9p.D67N
Missense
SNP
0.468
3Gain-
TAGLN-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TANC1-
-
-
-
3Gain-
TANK-
-
-
-
3Gain-
TARS-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS2R1-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TATDN1-
-
-
-
8Amp-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
4Gain-
TBATA-
-
-
-
4Gain-
TBC1D14-
-
-
-
1Loss-
TBC1D21p.D305N
Missense
SNP
1.000
2--
TBC1D26-
-
-
-
1Loss-
TBC1D31-
-
-
-
5Amp-
TBC1D4-
-
-
-
3Gain-
TBC1D8-
-
-
-
6Amp-
TBCA-
-
-
-
3Gain-
TBCB-
-
-
-
7Amp-
TBCEL-
-
-
-
1Loss-
TBPL2-
-
-
-
5Amp-
TBR1-
-
-
-
3Gain-
TBRG1-
-
-
-
1Loss-
TBRG4-
-
-
-
3Gain-
TBX15-
-
-
-
3Gain-
TBX18-
-
-
-
3Gain-
TBX19-
-
-
-
3Gain-
TBX20-
-
-
-
4Gain-
TBXA2R-
-
-
-
3Gain-
TBXAS1p.E253K
Missense
SNP
0.316
3Gain-
TC2N-
-
-
-
5Amp-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA2-
-
-
-
4Gain-
TCF24-
-
-
-
3Gain-
TCF3-
-
-
-
3Gain-
TCFL5-
-
-
-
4Gain-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCL1A-
-
-
-
5Amp-
TCL1B-
-
-
-
5Amp-
TDP1-
-
-
-
5Amp-
TDRD10-
-
-
-
3Gain-
TDRD12-
-
-
-
7Amp-
TDRD3-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD9-
-
-
-
5Amp-
TDRKH-
-
-
-
3Gain-
TECPR2-
-
-
-
5Amp-
TECR-
-
-
-
3Gain-
TECTA-
-
-
-
1Loss-
TEDC1-
-
-
-
5Amp-
TEDDM1-
-
-
-
3Gain-
TEKT3-
-
-
-
1Loss-
TEKT4-
-
-
-
5Amp-
TENM3-
-
-
-
4Gain-
TENT2-
-
-
-
3Gain-
TENT4A-
-
-
-
3Gain-
TENT5A-
-
-
-
3Gain-
TENT5C-
-
-
-
3Gain-
TEP1-
-
-
-
5Amp-
TERF1-
-
-
-
3Gain-
TERT-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TEX12-
-
-
-
1Loss-
TEX22-
-
-
-
5Amp-
TEX26-
-
-
-
3Gain-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX35-
-
-
-
3Gain-
TEX44-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TFAP2C-
-
-
-
3Gain-
TFDP1-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFPI-
-
-
-
3Gain-
TG-
-
-
-
8Amp-
TGDS-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFB3-
-
-
-
5Amp-
TGFBRAP1-
-
-
-
5Amp-
TGM1-
-
-
-
5Amp-
THAP1-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP6-
-
-
-
3Gain-
THAP8-
-
-
-
7Amp-
THBS3-
-
-
-
3Gain-
THEG-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
8Amp-
THEMIS2-
-
-
-
3Gain-
THNSL1-
-
-
-
3Gain-
THOP1-
-
-
-
3Gain-
THSD1-
-
-
-
3Gain-
THSD7A-
-
-
-
4Gain-
THSD7B-
-
-
-
3Gain-
THTPA-
-
-
-
5Amp-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAM2p.A1195E
Missense
SNP
1.000
2--
TIGD1-
-
-
-
3Gain-
TIMM13-
-
-
-
3Gain-
TIMM17A-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMM23-
-
-
-
3Gain-
TIMM23B-
-
-
-
3Gain-
TIMM50-
-
-
-
10Amp-
TIMM8B-
-
-
-
1Loss-
TIMM9-
-
-
-
5Amp-
TINF2-
-
-
-
5Amp-
TIPRL-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TJP3-
-
-
-
4Gain-
TLE2-
-
-
-
3Gain-
TLE6-
-
-
-
3Gain-
TLK1-
-
-
-
3Gain-
TLN2p.E1593K
Missense
SNP
0.562
2--
TLR3-
-
-
-
4Gain-
TLR5-
-
-
-
3Gain-
TM4SF20-
-
-
-
3Gain-
TM6SF2-
-
-
-
4Gain-
TM9SF1-
-
-
-
5Amp-
TM9SF2-
-
-
-
3Gain-
TM9SF4-
-
-
-
3Gain-
TMBIM1-
-
-
-
3Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO3-
-
-
-
3Gain-
TMED10-
-
-
-
5Amp-
TMED4-
-
-
-
4Gain-
TMED8-
-
-
-
5Amp-
TMEFF2-
-
-
-
3Gain-
TMEM106B-
-
-
-
4Gain-
TMEM121-
-
-
-
5Amp-
TMEM123-
-
-
-
1Loss-
TMEM127-
-
-
-
6Amp-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM131-
-
-
-
6Amp-
TMEM132Bp.R175W
Missense
SNP
0.496
2--
TMEM136-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM147-
-
-
-
7Amp-
TMEM161A-
-
-
-
4Gain-
TMEM163-
-
-
-
3Gain-
TMEM167A-
-
-
-
3Gain-
TMEM168-
-
-
-
3Gain-
TMEM169-
-
-
-
3Gain-
TMEM171-
-
-
-
3Gain-
TMEM174-
-
-
-
3Gain-
TMEM175-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
5Amp-
TMEM182-
-
-
-
6Amp-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
4Gain-
TMEM196-
-
-
-
4Gain-
TMEM198-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM209-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM218-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
4Gain-
TMEM225-
-
-
-
1Loss-
TMEM229A-
-
-
-
3Gain-
TMEM229Bp.L37*
Nonsense
SNP
0.593
5Amp-
TMEM236-
-
-
-
3Gain-
TMEM237-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM251-
-
-
-
5Amp-
TMEM253-
-
-
-
5Amp-
TMEM255B-
-
-
-
3Gain-
TMEM259-
-
-
-
3Gain-
TMEM260-
-
-
-
5Amp-
TMEM267-
-
-
-
3Gain-
TMEM272-
-
-
-
3Gain-
TMEM273-
-
-
-
3Gain-
TMEM30A-
-
-
-
3Gain-
TMEM30B-
-
-
-
5Amp-
TMEM38A-
-
-
-
4Gain-
TMEM45B-
-
-
-
1Loss-
TMEM59L-
-
-
-
4Gain-
TMEM63A-
-
-
-
3Gain-
TMEM63C-
-
-
-
5Amp-
TMEM64-
-
-
-
5Amp-
TMEM65-
-
-
-
8Amp-
TMEM67-
-
-
-
5Amp-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
8Amp-
TMEM72-
-
-
-
3Gain-
TMEM74-
-
-
-
5Amp-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMIGD2-
-
-
-
4Gain-
TMOD4-
-
-
-
3Gain-
TMPRSS11A-
-
-
-
3Gain-
TMPRSS11B-
-
-
-
3Gain-
TMPRSS11D-
-
-
-
3Gain-
TMPRSS11Ep.M256I
Missense
SNP
0.208
3Gain-
TMPRSS11F-
-
-
-
3Gain-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS9-
-
-
-
3Gain-
TMTC4-
-
-
-
3Gain-
TMUB1-
-
-
-
3Gain-
TMX1-
-
-
-
5Amp-
TMX3-
-
-
-
1Loss-
TNFAIP2-
-
-
-
5Amp-
TNFAIP6-
-
-
-
3Gain-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
5Amp-
TNFRSF19-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
4Gain-
TNFSF11-
-
-
-
3Gain-
TNFSF13B-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP2-
-
-
-
1Loss-
TNIP3p.F288L
Missense
SNP
0.530
2--
TNKS2-
-
-
-
3Gain-
TNN-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNP1-
-
-
-
3Gain-
TNPO1-
-
-
-
3Gain-
TNPO2-
-
-
-
5Amp-
TNPO3-
-
-
-
3Gain-
TNR-
-
-
-
3Gain-
TNRC18-
-
-
-
4Gain-
TNS1-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TOGARAM1-
-
-
-
5Amp-
TOMM20L-
-
-
-
5Amp-
TOMM40L-
-
-
-
3Gain-
TOMM7-
-
-
-
4Gain-
TOP1-
-
-
-
4Gain-
TOP1MT-
-
-
-
8Amp-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX4-
-
-
-
5Amp-
TP53p.C238F
Missense
SNP
1.000
2--
TP53AIP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53INP1-
-
-
-
5Amp-
TP53INP2-
-
-
-
3Gain-
TPBG-
-
-
-
3Gain-
TPD52-
-
-
-
1Loss-
TPD52L2-
-
-
-
4Gain-
TPGS1-
-
-
-
3Gain-
TPK1-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPM4-
-
-
-
3Gain-
TPP2-
-
-
-
3Gain-
TPPP-
-
-
-
3Gain-
TPPP2-
-
-
-
5Amp-
TPR-
-
-
-
3Gain-
TPT1-
-
-
-
3Gain-
TPTE-
-
-
-
1Loss-
TPX2-
-
-
-
3Gain-
TRA2A-
-
-
-
4Gain-
TRAF3-
-
-
-
5Amp-
TRAF3IP1-
-
-
-
3Gain-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAK2-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRAPPC11-
-
-
-
4Gain-
TRAPPC13-
-
-
-
3Gain-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
5Amp-
TRAPPC9-
-
-
-
8Amp-
TRDMT1-
-
-
-
3Gain-
TRDV1-
-
-
-
5Amp-
TREH-
-
-
-
1Loss-
TRHR-
-
-
-
5Amp-
TRIB1-
-
-
-
8Amp-
TRIB2p.P306S
Missense
SNP
0.530
2--
TRIL-
-
-
-
4Gain-
TRIM10p.M294I
Missense
SNP
0.535
2--
TRIM11-
-
-
-
3Gain-
TRIM13-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM23-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM43-
-
-
-
5Amp-
TRIM43B-
-
-
-
5Amp-
TRIM45-
-
-
-
3Gain-
TRIM46-
-
-
-
3Gain-
TRIM55-
-
-
-
3Gain-
TRIM58p.R209*
Nonsense
SNP
1.000
2--
TRIM67-
-
-
-
3Gain-
TRIM9-
-
-
-
5Amp-
TRIML1-
-
-
-
4Gain-
TRIML2-
-
-
-
4Gain-
TRIO-
-
-
-
3Gain-
TRIP11-
-
-
-
5Amp-
TRIP12-
-
-
-
3Gain-
TRIP13-
-
-
-
3Gain-
TRIQK-
-
-
-
5Amp-
TRIR-
-
-
-
5Amp-
TRMT1-
-
-
-
5Amp-
TRMT12-
-
-
-
8Amp-
TRMT1L-
-
-
-
3Gain-
TRMT5-
-
-
-
5Amp-
TRMT61A-
-
-
-
5Amp-
TRNAU1AP-
-
-
-
3Gain-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPC4-
-
-
-
3Gain-
TRPC4AP-
-
-
-
3Gain-
TRPC6-
-
-
-
1Loss-
TRPM8-
-
-
-
3Gain-
TRPS1-
-
-
-
5Amp-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TSACC-
-
-
-
3Gain-
TSC22D1-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSGA10-
-
-
-
6Amp-
TSGA13-
-
-
-
3Gain-
TSHB-
-
-
-
3Gain-
TSHR-
-
-
-
5Amp-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSHZ3-
-
-
-
3Gain-
TSNARE1-
-
-
-
8Amp-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
4Gain-
TSPAN15-
-
-
-
4Gain-
TSPAN2-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPYL4p.D110N
Missense
SNP
0.540
2--
TSPYL5-
-
-
-
5Amp-
TSSK4-
-
-
-
5Amp-
TSSK6-
-
-
-
4Gain-
TSTD1-
-
-
-
3Gain-
TTBK2p.P707A
Missense
SNP
0.476
2--
TTC12-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21B-
-
-
-
3Gain-
TTC23L-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTC30A-
-
-
-
3Gain-
TTC30B-
-
-
-
3Gain-
TTC33-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC5-
-
-
-
5Amp-
TTC6-
-
-
-
5Amp-
TTC7B-
-
-
-
5Amp-
TTC8-
-
-
-
5Amp-
TTC9-
-
-
-
5Amp-
TTC9B-
-
-
-
10Amp-
TTF2-
-
-
-
3Gain-
TTK-
-
-
-
3Gain-
TTLL4-
-
-
-
3Gain-
TTLL5-
-
-
-
5Amp-
TTLL9-
-
-
-
3Gain-
TTNp.D32544N
p.E28813Q
p.F19392L
Missense
Missense
Missense
SNP
SNP
SNP
0.304
0.365
0.346
3Gain-
TTPA-
-
-
-
3Gain-
TTYH3-
-
-
-
4Gain-
TUBA3D-
-
-
-
3Gain-
TUBA3E-
-
-
-
3Gain-
TUBA4A-
-
-
-
3Gain-
TUBA4B-
-
-
-
3Gain-
TUBAL3-
-
-
-
3Gain-
TUBB1-
-
-
-
6Amp-
TUBB8-
-
-
-
3Gain-
TUBGCP3-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWIST1-
-
-
-
4Gain-
TWIST2-
-
-
-
3Gain-
TWISTNB-
-
-
-
4Gain-
TXNDC16-
-
-
-
5Amp-
TXNDC9-
-
-
-
6Amp-
TXNIP-
-
-
-
3Gain-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TYROBP-
-
-
-
7Amp-
TYSND1-
-
-
-
4Gain-
TYW5-
-
-
-
3Gain-
U2AF1L4-
-
-
-
7Amp-
UAP1-
-
-
-
3Gain-
UBA2-
-
-
-
7Amp-
UBA52-
-
-
-
4Gain-
UBA6-
-
-
-
3Gain-
UBAC2-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBE2D4-
-
-
-
4Gain-
UBE2E3-
-
-
-
3Gain-
UBE2F-
-
-
-
3Gain-
UBE2F-SCLY-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2J1-
-
-
-
3Gain-
UBE2L5-
-
-
-
3Gain-
UBE2M-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2QL1-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBE3D-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBL3-
-
-
-
3Gain-
UBN2-
-
-
-
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR3-
-
-
-
3Gain-
UBR5-
-
-
-
5Amp-
UBR7-
-
-
-
5Amp-
UBXN4-
-
-
-
3Gain-
UBXN6-
-
-
-
4Gain-
UCHL3-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCKL1-
-
-
-
4Gain-
UCMA-
-
-
-
3Gain-
UCN3-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UFM1-
-
-
-
3Gain-
UFSP2-
-
-
-
4Gain-
UGGT2-
-
-
-
3Gain-
UGT1A1-
-
-
-
3Gain-
UGT1A10-
-
-
-
3Gain-
UGT1A3-
-
-
-
3Gain-
UGT1A4-
-
-
-
3Gain-
UGT1A5-
-
-
-
3Gain-
UGT1A6-
-
-
-
3Gain-
UGT1A7-
-
-
-
3Gain-
UGT1A8-
-
-
-
3Gain-
UGT1A9-
-
-
-
3Gain-
UGT2A1-
-
-
-
3Gain-
UGT2A2-
-
-
-
3Gain-
UGT2A3-
-
-
-
3Gain-
UGT2B10-
-
-
-
3Gain-
UGT2B11-
-
-
-
3Gain-
UGT2B15-
-
-
-
3Gain-
UGT2B17-
-
-
-
3Gain-
UGT2B28-
-
-
-
3Gain-
UGT2B4-
-
-
-
3Gain-
UGT2B7-
-
-
-
3Gain-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UNC13A-
-
-
-
4Gain-
UNC50-
-
-
-
6Amp-
UNC5B-
-
-
-
4Gain-
UNC79p.Q1790L
Missense
SNP
0.216
5Amp-
UNC80-
-
-
-
3Gain-
UNCX-
-
-
-
4Gain-
UPF1-
-
-
-
4Gain-
UPF2-
-
-
-
3Gain-
UPF3A-
-
-
-
3Gain-
UPK1A-
-
-
-
7Amp-
UPK2-
-
-
-
1Loss-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UPP2-
-
-
-
3Gain-
UQCC1-
-
-
-
3Gain-
UQCR11-
-
-
-
3Gain-
UQCRB-
-
-
-
5Amp-
UQCRFS1-
-
-
-
3Gain-
URAD-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
4Gain-
URGCP-MRPS24-
-
-
-
4Gain-
URI1-
-
-
-
3Gain-
USE1-
-
-
-
4Gain-
USF1-
-
-
-
3Gain-
USF2-
-
-
-
7Amp-
USH2A-
-
-
-
3Gain-
USHBP1-
-
-
-
4Gain-
USO1-
-
-
-
3Gain-
USP12-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP28-
-
-
-
1Loss-
USP29-
-
-
-
1Loss-
USP37-
-
-
-
3Gain-
USP40-
-
-
-
3Gain-
USP42-
-
-
-
4Gain-
USP43-
-
-
-
1Loss-
USP54-
-
-
-
4Gain-
USP6NL-
-
-
-
3Gain-
USPL1-
-
-
-
3Gain-
UTP14C-
-
-
-
3Gain-
UTP15-
-
-
-
3Gain-
UTP23-
-
-
-
5Amp-
UTP25-
-
-
-
3Gain-
UTP3-
-
-
-
3Gain-
UVSSA-
-
-
-
1Loss-
UXS1-
-
-
-
5Amp-
VAMP4-
-
-
-
3Gain-
VANGL1-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VAPB-
-
-
-
6Amp-
VASH1-
-
-
-
5Amp-
VASH2-
-
-
-
3Gain-
VCL-
-
-
-
4Gain-
VCPIP1-
-
-
-
3Gain-
VCPKMT-
-
-
-
5Amp-
VDAC2-
-
-
-
4Gain-
VDAC3-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIL1-
-
-
-
3Gain-
VIM-
-
-
-
3Gain-
VIPAS39-
-
-
-
5Amp-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
5Amp-
VN1R1-
-
-
-
1Loss-
VOPP1-
-
-
-
3Gain-
VPS11-
-
-
-
1Loss-
VPS13B-
-
-
-
5Amp-
VPS26A-
-
-
-
4Gain-
VPS26B-
-
-
-
1Loss-
VPS36-
-
-
-
3Gain-
VPS41-
-
-
-
4Gain-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VRK1-
-
-
-
5Amp-
VRTN-
-
-
-
5Amp-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSIR-
-
-
-
4Gain-
VSTM2A-
-
-
-
3Gain-
VSTM2B-
-
-
-
3Gain-
VSTM4-
-
-
-
3Gain-
VSX2-
-
-
-
5Amp-
VTCN1-
-
-
-
3Gain-
VTI1B-
-
-
-
5Amp-
VWA3B-
-
-
-
6Amp-
VWA5A-
-
-
-
1Loss-
VWA8-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWC2L-
-
-
-
3Gain-
VWDE-
-
-
-
4Gain-
VXN-
-
-
-
3Gain-
WAC-
-
-
-
3Gain-
WARS-
-
-
-
5Amp-
WARS2-
-
-
-
3Gain-
WASF3-
-
-
-
3Gain-
WASHC2A-
-
-
-
3Gain-
WASHC2C-
-
-
-
3Gain-
WASHC5-
-
-
-
8Amp-
WASL-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WDFY1-
-
-
-
3Gain-
WDFY2-
-
-
-
3Gain-
WDFY4-
-
-
-
3Gain-
WDHD1-
-
-
-
5Amp-
WDR12-
-
-
-
3Gain-
WDR18-
-
-
-
3Gain-
WDR20-
-
-
-
5Amp-
WDR25-
-
-
-
5Amp-
WDR26-
-
-
-
3Gain-
WDR3-
-
-
-
3Gain-
WDR37-
-
-
-
3Gain-
WDR41-
-
-
-
3Gain-
WDR60-
-
-
-
3Gain-
WDR62-
-
-
-
7Amp-
WDR70-
-
-
-
5Amp-
WDR75-
-
-
-
3Gain-
WDR83-
-
-
-
5Amp-
WDR83OS-
-
-
-
5Amp-
WDR86-
-
-
-
3Gain-
WDR87-
-
-
-
6Amp-
WDR88-
-
-
-
7Amp-
WDR89-
-
-
-
5Amp-
WDR91-
-
-
-
3Gain-
WDSUB1-
-
-
-
3Gain-
WDYHV1-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WFS1-
-
-
-
1Loss-
WIPF1-
-
-
-
3Gain-
WIPF3-
-
-
-
4Gain-
WIPI2-
-
-
-
4Gain-
WISP1-
-
-
-
8Amp-
WIZ-
-
-
-
3Gain-
WNT10A-
-
-
-
3Gain-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
WNT6-
-
-
-
3Gain-
WNT7Bp.G188R
Missense
SNP
0.357
2--
WNT9A-
-
-
-
3Gain-
WTIP-
-
-
-
7Amp-
WWC2-
-
-
-
4Gain-
WWP1-
-
-
-
5Amp-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XIRP2-
-
-
-
3Gain-
XKR7-
-
-
-
3Gain-
XKR8-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPO4-
-
-
-
3Gain-
XPR1-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRCC3-
-
-
-
5Amp-
XRCC4-
-
-
-
3Gain-
XRCC5-
-
-
-
3Gain-
YAE1-
-
-
-
4Gain-
YAP1-
-
-
-
1Loss-
YIF1B-
-
-
-
6Amp-
YJEFN3-
-
-
-
4Gain-
YJU2-
-
-
-
4Gain-
YKT6-
-
-
-
4Gain-
YLPM1-
-
-
-
5Amp-
YME1L1-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YTHDC1-
-
-
-
3Gain-
YTHDF1-
-
-
-
4Gain-
YTHDF2-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAZ-
-
-
-
5Amp-
YY1-
-
-
-
5Amp-
YY1AP1-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZAP70-
-
-
-
6Amp-
ZAR1L-
-
-
-
3Gain-
ZBED3-
-
-
-
3Gain-
ZBED6-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBP1-
-
-
-
6Amp-
ZBTB1-
-
-
-
5Amp-
ZBTB10-
-
-
-
1Loss-
ZBTB16-
-
-
-
1Loss-
ZBTB25-
-
-
-
5Amp-
ZBTB32-
-
-
-
7Amp-
ZBTB37-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
5Amp-
ZBTB44-
-
-
-
1Loss-
ZBTB45-
-
-
-
1Loss-
ZBTB46-
-
-
-
4Gain-
ZBTB49-
-
-
-
1Loss-
ZBTB7A-
-
-
-
4Gain-
ZBTB7B-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
1Loss-
ZC2HC1C-
-
-
-
5Amp-
ZC3H11A-
-
-
-
3Gain-
ZC3H12C-
-
-
-
1Loss-
ZC3H13-
-
-
-
3Gain-
ZC3H14-
-
-
-
5Amp-
ZC3H15-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24-
-
-
-
4Gain-
ZDBF2-
-
-
-
3Gain-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC20-
-
-
-
3Gain-
ZDHHC22-
-
-
-
5Amp-
ZDHHC4-
-
-
-
4Gain-
ZEB1-
-
-
-
3Gain-
ZEB2-
-
-
-
3Gain-
ZFAND1-
-
-
-
5Amp-
ZFAND2A-
-
-
-
4Gain-
ZFAND2B-
-
-
-
3Gain-
ZFAND4-
-
-
-
3Gain-
ZFAT-
-
-
-
8Amp-
ZFHX2-
-
-
-
5Amp-
ZFHX3-
-
-
-
1Loss-
ZFHX4-
-
-
-
1Loss-
ZFP14-
-
-
-
7Amp-
ZFP28-
-
-
-
1Loss-
ZFP30-
-
-
-
6Amp-
ZFP36-
-
-
-
10Amp-
ZFP36L1-
-
-
-
5Amp-
ZFP41-
-
-
-
8Amp-
ZFP42-
-
-
-
4Gain-
ZFP64-
-
-
-
2-ZFP64--DHX35
ZFP82-
-
-
-
7Amp-
ZFPM2-
-
-
-
5Amp-
ZFR-
-
-
-
3Gain-
ZFR2-
-
-
-
4Gain-
ZFYVE1-
-
-
-
5Amp-
ZFYVE21-
-
-
-
5Amp-
ZFYVE26-
-
-
-
5Amp-
ZFYVE28-
-
-
-
1Loss-
ZGPAT-
-
-
-
4Gain-
ZHX1-
-
-
-
5Amp-
ZHX1-C8orf76-
-
-
-
5Amp-
ZHX2-
-
-
-
5Amp-
ZHX3-
-
-
-
4Gain-
ZIC2-
-
-
-
3Gain-
ZIC5-
-
-
-
3Gain-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMIZ1-
-
-
-
4Gain-
ZMIZ2-
-
-
-
4Gain-
ZMYM2-
-
-
-
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYND11-
-
-
-
3Gain-
ZNF100-
-
-
-
3Gain-
ZNF101-
-
-
-
4Gain-
ZNF107-
-
-
-
1Loss-
ZNF117-
-
-
-
1Loss-
ZNF12-
-
-
-
4Gain-
ZNF131-
-
-
-
3Gain-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF136-
-
-
-
3Gain-
ZNF138-
-
-
-
1Loss-
ZNF14-
-
-
-
4Gain-
ZNF141-
-
-
-
0Del-
ZNF142-
-
-
-
3Gain-
ZNF146-
-
-
-
7Amp-
ZNF154-
-
-
-
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF181-
-
-
-
7Amp-
ZNF2-
-
-
-
5Amp-
ZNF20-
-
-
-
3Gain-
ZNF202-
-
-
-
1Loss-
ZNF208-
-
-
-
3Gain-
ZNF211-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF217-
-
-
-
3Gain-
ZNF219-
-
-
-
5Amp-
ZNF22-
-
-
-
3Gain-
ZNF236-
-
-
-
1Loss-
ZNF239-
-
-
-
3Gain-
ZNF248-
-
-
-
3Gain-
ZNF25-
-
-
-
3Gain-
ZNF253-
-
-
-
3Gain-
ZNF254-
-
-
-
3Gain-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
3Gain-
ZNF260-
-
-
-
7Amp-
ZNF264-
-
-
-
1Loss-
ZNF273-
-
-
-
1Loss-
ZNF274-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF292p.M2199I
Missense
SNP
0.279
3Gain-
ZNF30-
-
-
-
7Amp-
ZNF302-
-
-
-
7Amp-
ZNF304-
-
-
-
1Loss-
ZNF316-
-
-
-
4Gain-
ZNF32-
-
-
-
3Gain-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF329-
-
-
-
1Loss-
ZNF333-
-
-
-
3Gain-
ZNF334p.D83N
Missense
SNP
0.396
2--
ZNF33A-
-
-
-
3Gain-
ZNF33B-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF345-
-
-
-
3Gain-
ZNF366-
-
-
-
3Gain-
ZNF37A-
-
-
-
3Gain-
ZNF382-
-
-
-
3Gain-
ZNF383-
-
-
-
3Gain-
ZNF385B-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF407-
-
-
-
1Loss-
ZNF410-
-
-
-
5Amp-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
3Gain-
ZNF425-
-
-
-
3Gain-
ZNF429-
-
-
-
3Gain-
ZNF43-
-
-
-
3Gain-
ZNF430-
-
-
-
3Gain-
ZNF431-
-
-
-
3Gain-
ZNF433-
-
-
-
1Loss-
ZNF438-
-
-
-
3Gain-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
3Gain-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
3Gain-
ZNF443-
-
-
-
3Gain-
ZNF446-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF461-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF485-
-
-
-
3Gain-
ZNF486-
-
-
-
3Gain-
ZNF487-
-
-
-
3Gain-
ZNF488-
-
-
-
3Gain-
ZNF490-
-
-
-
3Gain-
ZNF491-
-
-
-
1Loss-
ZNF492p.E424K
Missense
SNP
0.100
3Gain-
ZNF493-
-
-
-
3Gain-
ZNF497-
-
-
-
1Loss-
ZNF503-
-
-
-
4Gain-
ZNF506-
-
-
-
4Gain-
ZNF507-
-
-
-
7Amp-
ZNF512B-
-
-
-
4Gain-
ZNF514-
-
-
-
5Amp-
ZNF516-
-
-
-
1Loss-
ZNF527-
-
-
-
6Amp-
ZNF529-
-
-
-
3Gain-
ZNF530-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF536-
-
-
-
3Gain-
ZNF540-
-
-
-
6Amp-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF546-
-
-
-
10Amp-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
3Gain-
ZNF555-
-
-
-
3Gain-
ZNF556-
-
-
-
3Gain-
ZNF563-
-
-
-
3Gain-
ZNF564-
-
-
-
3Gain-
ZNF565-
-
-
-
7Amp-
ZNF566-
-
-
-
7Amp-
ZNF567-
-
-
-
3Gain-
ZNF568-
-
-
-
3Gain-
ZNF569-
-
-
-
6Amp-
ZNF57-
-
-
-
3Gain-
ZNF570-
-
-
-
6Amp-
ZNF571-
-
-
-
6Amp-
ZNF572-
-
-
-
8Amp-
ZNF573-
-
-
-
6Amp-
ZNF582-
-
-
-
1Loss-
ZNF583-
-
-
-
1Loss-
ZNF584-
-
-
-
1Loss-
ZNF585A-
-
-
-
3Gain-
ZNF585B-
-
-
-
3Gain-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF595-
-
-
-
0Del-
ZNF599-
-
-
-
7Amp-
ZNF606-
-
-
-
1Loss-
ZNF607-
-
-
-
6Amp-
ZNF622-
-
-
-
3Gain-
ZNF625-
-
-
-
3Gain-
ZNF625-ZNF20-
-
-
-
3Gain-
ZNF626-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF66-
-
-
-
3Gain-
ZNF667-
-
-
-
1Loss-
ZNF671-
-
-
-
1Loss-
ZNF675-
-
-
-
3Gain-
ZNF676-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF679-
-
-
-
1Loss-
ZNF680-
-
-
-
1Loss-
ZNF681-
-
-
-
3Gain-
ZNF682-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF69-
-
-
-
1Loss-
ZNF696-
-
-
-
8Amp-
ZNF697-
-
-
-
3Gain-
ZNF700-
-
-
-
1Loss-
ZNF704-
-
-
-
1Loss-
ZNF706-
-
-
-
5Amp-
ZNF708-
-
-
-
3Gain-
ZNF709-
-
-
-
3Gain-
ZNF71-
-
-
-
1Loss-
ZNF713-
-
-
-
3Gain-
ZNF714-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF718-
-
-
-
0Del-
ZNF721-
-
-
-
0Del-
ZNF723-
-
-
-
3Gain-
ZNF724-
-
-
-
3Gain-
ZNF726-
-
-
-
3Gain-
ZNF727-
-
-
-
1Loss-
ZNF728-
-
-
-
3Gain-
ZNF729-
-
-
-
3Gain-
ZNF730-
-
-
-
3Gain-
ZNF732-
-
-
-
0Del-
ZNF735-
-
-
-
1Loss-
ZNF736-
-
-
-
1Loss-
ZNF737-
-
-
-
3Gain-
ZNF738-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF749-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF77-
-
-
-
3Gain-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF775-
-
-
-
3Gain-
ZNF776-
-
-
-
1Loss-
ZNF777-
-
-
-
3Gain-
ZNF780A-
-
-
-
10Amp-
ZNF780B-
-
-
-
10Amp-
ZNF781-
-
-
-
6Amp-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF790-
-
-
-
3Gain-
ZNF791-
-
-
-
3Gain-
ZNF792-
-
-
-
7Amp-
ZNF793-
-
-
-
6Amp-
ZNF799-
-
-
-
3Gain-
ZNF8-
-
-
-
1Loss-
ZNF800-
-
-
-
3Gain-
ZNF804Ap.Q1129*
Nonsense
SNP
0.673
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF823-
-
-
-
1Loss-
ZNF829-
-
-
-
3Gain-
ZNF831-
-
-
-
6Amp-
ZNF835-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF839-
-
-
-
5Amp-
ZNF844-
-
-
-
1Loss-
ZNF85-
-
-
-
3Gain-
ZNF850-
-
-
-
3Gain-
ZNF853-
-
-
-
4Gain-
ZNF862-
-
-
-
3Gain-
ZNF878-
-
-
-
1Loss-
ZNF90-
-
-
-
3Gain-
ZNF91-
-
-
-
3Gain-
ZNF93-
-
-
-
3Gain-
ZNF98-
-
-
-
3Gain-
ZNF99-
-
-
-
3Gain-
ZNRF2-
-
-
-
4Gain-
ZPBP-
-
-
-
3Gain-
ZPR1-
-
-
-
1Loss-
ZRANB3-
-
-
-
3Gain-
ZSCAN1-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN22-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSWIM2-
-
-
-
3Gain-
ZSWIM4-
-
-
-
5Amp-
ZSWIM6-
-
-
-
3Gain-
ZSWIM7-
-
-
-
1Loss-
ZSWIM8-
-
-
-
4Gain-
ZW10-
-
-
-
1Loss-
ZWINT-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-