PDMR-638129~119-R~CP7-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
A4GALT-
-
-
-
1Loss-
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AADACL4p.R359H
Missense
SNP
0.507
2--
AADAT-
-
-
-
1Loss-
AAMP-
-
-
-
1Loss-
AANAT-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AARSD1-
-
-
-
3Gain-
AASDH-
-
-
-
1Loss-
AATF-
-
-
-
3Gain-
AATK-
-
-
-
3Gain-
ABCA10-
-
-
-
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA13p.E580*
Nonsense
SNP
0.503
2--
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB11-
-
-
-
1Loss-
ABCB6-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCC3-
-
-
-
3Gain-
ABCC5-
-
-
-
3Gain-
ABCC8-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCF3-
-
-
-
3Gain-
ABCG2-
-
-
-
1Loss-
ABHD10-
-
-
-
3Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD15-
-
-
-
3Gain-
ABHD18-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABI3-
-
-
-
3Gain-
ABI3BP-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABLIM2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
3Gain-
ABRAXAS1-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB1-
-
-
-
3Gain-
ABTB2-
-
-
-
1Loss-
AC002094.3-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004687.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
3Gain-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005670.2-
-
-
-
3Gain-
AC005697.1-
-
-
-
3Gain-
AC005702.1-
-
-
-
3Gain-
AC005726.1-
-
-
-
3Gain-
AC005837.2-
-
-
-
3Gain-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
3Gain-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009336.2-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC011195.2-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC012254.2-
-
-
-
3Gain-
AC015688.4-
-
-
-
3Gain-
AC015802.6-
-
-
-
3Gain-
AC015813.2-
-
-
-
3Gain-
AC018523.2-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC020636.2-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022400.6-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC026316.5-
-
-
-
3Gain-
AC026398.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC036214.3-
-
-
-
3Gain-
AC046185.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC068234.1-
-
-
-
3Gain-
AC068547.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC073508.2-
-
-
-
3Gain-
AC073529.1-
-
-
-
NDNDAC073529.1--MID1
AC079447.1-
-
-
-
1Loss-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC084337.2-
-
-
-
1Loss-
AC087289.3-
-
-
-
3Gain-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC091551.1-
-
-
-
3Gain-
AC091959.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092587.1-
-
-
-
1Loss-
AC092835.1-
-
-
-
1Loss-
AC093323.1-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC093899.2-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC099811.2-
-
-
-
3Gain-
AC099850.2-
-
-
-
3Gain-
AC100868.1-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC112128.1-
-
-
-
3Gain-
AC112229.3-
-
-
-
1Loss-
AC112504.2-
-
-
-
3Gain-
AC113554.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC117457.1-
-
-
-
3Gain-
AC120057.2-
-
-
-
1Loss-
AC124312.3-
-
-
-
NDNDSNORD20--AC124312.3
AC126283.2-
-
-
-
1Loss-
AC127029.3-
-
-
-
3Gain-
AC129492.3-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC134669.1-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC139530.2-
-
-
-
3Gain-
AC142391.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
3Gain-
ACACA-
-
-
-
3Gain-
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACADL-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACAP3-
-
-
-
1Loss-
ACBD4-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACE-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACLY-
-
-
-
3Gain-
ACMSD-
-
-
-
1Loss-
ACO1-
-
-
-
1Loss-
ACO2-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT13-
-
-
-
3Gain-
ACOX1-
-
-
-
3Gain-
ACOX2-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACOXL-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACPP-
-
-
-
3Gain-
ACR-
-
-
-
1Loss-
ACSF2-
-
-
-
3Gain-
ACSL1-
-
-
-
1Loss-
ACSL3-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTBL2-
-
-
-
3Gain-
ACTG1-
-
-
-
3Gain-
ACTL6A-
-
-
-
3Gain-
ACTN2p.E445*
Nonsense
SNP
0.552
2--
ACTR1A-
-
-
-
1Loss-
ACTR1B-
-
-
-
1Loss-
ACTR3-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ACTRT3-
-
-
-
3Gain-
ACVR1-
-
-
-
1Loss-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ADAD1-
-
-
-
1Loss-
ADAM11-
-
-
-
3Gain-
ADAM12-
-
-
-
1Loss-
ADAM21p.E273*
Nonsense
SNP
0.489
2--
ADAM23-
-
-
-
1Loss-
ADAM29-
-
-
-
1Loss-
ADAMTS12-
-
-
-
3Gain-
ADAMTS14-
-
-
-
1Loss-
ADAMTS16-
-
-
-
3Gain-
ADAMTS19-
-
-
-
1Loss-
ADAMTS20p.P1218S
Missense
SNP
0.491
2--
ADAMTS3-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAP2-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY2-
-
-
-
3Gain-
ADCY5-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADCYAP1-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRD1p.R624L
Missense
SNP
0.481
2--
ADGRG7-
-
-
-
3Gain-
ADGRL3-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADIPOQ-
-
-
-
3Gain-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADNP2-
-
-
-
3Gain-
ADO-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRH-
-
-
-
3Gain-
ADRA2A-
-
-
-
1Loss-
ADRA2B-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADSL-
-
-
-
1Loss-
ADTRP-
-
-
-
3Gain-
AFAP1-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFF3-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG3L2-
-
-
-
3Gain-
AFM-
-
-
-
1Loss-
AFMID-
-
-
-
3Gain-
AFP-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGBL2-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AGO2-
-
-
-
3Gain-
AGPS-
-
-
-
1Loss-
AGRN-
-
-
-
1Loss-
AGTR1-
-
-
-
3Gain-
AGXT-
-
-
-
1Loss-
AGXT2-
-
-
-
3Gain-
AHRR-
-
-
-
3Gain-
AHSG-
-
-
-
3Gain-
AIFM2-
-
-
-
1Loss-
AIMP1-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AKAIN1-
-
-
-
3Gain-
AKAP1-
-
-
-
3Gain-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL024498.2-
-
-
-
3Gain-
AL035078.4-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
1Loss-
AL445989.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
3Gain-
AL512506.3-
-
-
-
1Loss-
AL513165.2-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL845331.2-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALB-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH18A1-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH1L1-
-
-
-
3Gain-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH5A1-
-
-
-
3Gain-
ALDH7A1-
-
-
-
1Loss-
ALDOC-
-
-
-
3Gain-
ALG11-
-
-
-
1Loss-
ALG12-
-
-
-
1Loss-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALKBH3-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
3Gain-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
ALYREF-
-
-
-
3Gain-
AMACR-
-
-
-
3Gain-
AMBN-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMER3-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMMECR1L-
-
-
-
1Loss-
AMOTL2-
-
-
-
3Gain-
AMPD3-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
AMTN-
-
-
-
1Loss-
AMZ2-
-
-
-
3Gain-
ANAPC1-
-
-
-
1Loss-
ANAPC10-
-
-
-
1Loss-
ANAPC11-
-
-
-
3Gain-
ANAPC13-
-
-
-
3Gain-
ANAPC16-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANAPC5p.D419Y
Missense
SNP
0.565
2--
ANGPT1-
-
-
-
3Gain-
ANK2p.D3505H
Missense
SNP
0.333
1Loss-
ANK3-
-
-
-
1Loss-
ANKAR-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKFN1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
3Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD12-
-
-
-
3Gain-
ANKRD13B-
-
-
-
3Gain-
ANKRD13Dp.G262C
Missense
SNP
0.455
2--
ANKRD17-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD20A2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD23-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD29-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD30BL-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD33B-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD36-
-
-
-
1Loss-
ANKRD36B-
-
-
-
1Loss-
ANKRD36C-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD39-
-
-
-
1Loss-
ANKRD40-
-
-
-
3Gain-
ANKRD40CL-
-
-
-
3Gain-
ANKRD44-
-
-
-
1Loss-
ANKRD46-
-
-
-
3Gain-
ANKRD50-
-
-
-
1Loss-
ANKRD54-
-
-
-
1Loss-
ANKRD55-
-
-
-
3Gain-
ANKRD62-
-
-
-
3Gain-
ANKRD65-
-
-
-
1Loss-
ANKUB1-
-
-
-
3Gain-
ANKZF1-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA10-
-
-
-
1Loss-
ANXA11-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
ANXA2R-
-
-
-
3Gain-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AOC2-
-
-
-
3Gain-
AOC3-
-
-
-
3Gain-
AOX1-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2B1-
-
-
-
3Gain-
AP2M1-
-
-
-
3Gain-
AP3B1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APCDD1-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOH-
-
-
-
3Gain-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APPBP2-
-
-
-
3Gain-
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP4-
-
-
-
3Gain-
AQP7-
-
-
-
1Loss-
ARAP1p.R45H
Missense
SNP
0.434
2--
ARAP2-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
AREG-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARFGAP2-
-
-
-
1Loss-
ARFGAP3-
-
-
-
1Loss-
ARFGEF1-
-
-
-
3Gain-
ARFIP1-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARHGAP1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
1Loss-
ARHGAP15-
-
-
-
1Loss-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP23-
-
-
-
3Gain-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP27-
-
-
-
3Gain-
ARHGAP28-
-
-
-
3Gain-
ARHGAP31-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP8-
-
-
-
1Loss-
ARHGDIA-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
7Amp-
ARHGEF26-
-
-
-
3Gain-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARHGEF39-
-
-
-
1Loss-
ARHGEF4-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARID5A-
-
-
-
1Loss-
ARID5B-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL14EP-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
3Gain-
ARL16-
-
-
-
3Gain-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4C-
-
-
-
1Loss-
ARL4D-
-
-
-
3Gain-
ARL5A-
-
-
-
1Loss-
ARL5C-
-
-
-
3Gain-
ARL6-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL6IP6-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARL9-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC7-
-
-
-
3Gain-
ARMC8-
-
-
-
3Gain-
ARMC9-
-
-
-
1Loss-
ARMH2-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNTL-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSG-
-
-
-
3Gain-
ARSI-
-
-
-
1Loss-
ARSJ-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH1-
-
-
-
3Gain-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASB1-
-
-
-
1Loss-
ASB14p.S213G
Missense
SNP
1.000
1Loss-
ASB16-
-
-
-
3Gain-
ASB18-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASIC2-
-
-
-
3Gain-
ASIC4-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASNSD1-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASPHD2-
-
-
-
1Loss-
ASPSCR1-
-
-
-
3Gain-
ASTE1-
-
-
-
3Gain-
ASTL-
-
-
-
1Loss-
ASXL3-
-
-
-
3Gain-
ATAD1-
-
-
-
1Loss-
ATAD2-
-
-
-
3Gain-
ATAD3A-
-
-
-
1Loss-
ATAD3B-
-
-
-
1Loss-
ATAD3C-
-
-
-
1Loss-
ATAD5-
-
-
-
3Gain-
ATE1-
-
-
-
1Loss-
ATF2-
-
-
-
1Loss-
ATF4-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG13-
-
-
-
1Loss-
ATG16L1-
-
-
-
1Loss-
ATG3-
-
-
-
3Gain-
ATG4B-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
3Gain-
ATP2A3-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP2C1-
-
-
-
3Gain-
ATP5F1A-
-
-
-
3Gain-
ATP5MC1-
-
-
-
3Gain-
ATP5MC3-
-
-
-
1Loss-
ATP5MD-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP5MGL-
-
-
-
1Loss-
ATP5PD-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A1-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A1-
-
-
-
1Loss-
ATP8B1-
-
-
-
3Gain-
ATP9B-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
3Gain-
ATRIP-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN1-
-
-
-
3Gain-
ATXN10-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
ATXN7L3-
-
-
-
3Gain-
AURKAIP1-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
AXIN2-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
3Gain-
B3GALNT1-
-
-
-
3Gain-
B3GALT1-
-
-
-
1Loss-
B3GALT6-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT7-
-
-
-
1Loss-
B3GNTL1-
-
-
-
3Gain-
B4GALNT2-
-
-
-
3Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT4-
-
-
-
3Gain-
B4GALT6-
-
-
-
3Gain-
B9D1-
-
-
-
1Loss-
BAALC-
-
-
-
3Gain-
BAG1-
-
-
-
1Loss-
BAG2-
-
-
-
3Gain-
BAG3-
-
-
-
1Loss-
BAHCC1-
-
-
-
3Gain-
BAIAP2-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BAZ2B-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS12-
-
-
-
1Loss-
BBS5-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBX-
-
-
-
3Gain-
BCAS3-
-
-
-
3Gain-
BCCIP-
-
-
-
1Loss-
BCHEp.W140C
Missense
SNP
0.307
3Gain-
BCL2-
-
-
-
3Gain-
BCL2L11-
-
-
-
1Loss-
BCL6-
-
-
-
3Gain-
BCL6B-
-
-
-
1Loss-
BCR-
-
-
-
1Loss-
BCS1L-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BDH2-
-
-
-
1Loss-
BDKRB2p.A210S
Missense
SNP
0.536
2--
BDNF-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BECN1-
-
-
-
3Gain-
BEND4-
-
-
-
1Loss-
BEND6-
-
-
-
3Gain-
BET1L-
-
-
-
1Loss-
BFSP2-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN1-
-
-
-
1Loss-
BIRC5-
-
-
-
3Gain-
BLMH-
-
-
-
3Gain-
BLNK-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP5-
-
-
-
3Gain-
BMPR1A-
-
-
-
1Loss-
BMPR1B-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BOC-
-
-
-
3Gain-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
3Gain-
BOK-
-
-
-
1Loss-
BOLL-
-
-
-
1Loss-
BOP1-
-
-
-
3Gain-
BORA-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPIFC-
-
-
-
1Loss-
BPTF-
-
-
-
3Gain-
BRCA1-
-
-
-
3Gain-
BRCA2-
-
-
-
1Loss-
BRD1-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BRIP1-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRSK2p.P626T
Missense
SNP
1.000
1Loss-
BSN-
-
-
-
1Loss-
BST1-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTC-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTLA-
-
-
-
3Gain-
BTRC-
-
-
-
1Loss-
BUB1-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
C10orf105-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf47-
-
-
-
3Gain-
C17orf49-
-
-
-
1Loss-
C17orf50-
-
-
-
3Gain-
C17orf51-
-
-
-
1Loss-
C17orf53-
-
-
-
3Gain-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf75-
-
-
-
3Gain-
C17orf78-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C17orf97-
-
-
-
1Loss-
C17orf98-
-
-
-
3Gain-
C17orf99-
-
-
-
3Gain-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63-
-
-
-
3Gain-
C1orf159-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QL1-
-
-
-
3Gain-
C1QL2-
-
-
-
1Loss-
C1QTNF1-
-
-
-
3Gain-
C1QTNF12-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF4-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C1QTNF7-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD6-
-
-
-
1Loss-
C2orf15-
-
-
-
1Loss-
C2orf40-
-
-
-
1Loss-
C2orf49-
-
-
-
1Loss-
C2orf66-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf76-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C2orf88-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf84-
-
-
-
1Loss-
C3orf85-
-
-
-
3Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4orf17-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf46-
-
-
-
1Loss-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
3Gain-
C6-
-
-
-
3Gain-
C6orf52-
-
-
-
3Gain-
C6orf62-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9-
-
-
-
3Gain-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
CA1-
-
-
-
3Gain-
CA10-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA4-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CA9-
-
-
-
1Loss-
CAB39-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CABIN1-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABP7-
-
-
-
1Loss-
CABS1-
-
-
-
1Loss-
CABYR-
-
-
-
3Gain-
CACNA1D-
-
-
-
1Loss-
CACNA1G-
-
-
-
3Gain-
CACNA1I-
-
-
-
1Loss-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB1-
-
-
-
3Gain-
CACNB4-
-
-
-
1Loss-
CACNG1-
-
-
-
3Gain-
CACNG2-
-
-
-
1Loss-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CACUL1-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALB1-
-
-
-
3Gain-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO2-
-
-
-
3Gain-
CALCRL-
-
-
-
1Loss-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK2A-
-
-
-
1Loss-
CAMK2D-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CANT1-
-
-
-
3Gain-
CAP2-
-
-
-
3Gain-
CAPN10-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CARD10-
-
-
-
1Loss-
CARD14-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARF-
-
-
-
1Loss-
CARMIL1-
-
-
-
3Gain-
CARS-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC3-
-
-
-
3Gain-
CASKIN2-
-
-
-
3Gain-
CASP10-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASR-
-
-
-
3Gain-
CAST-
-
-
-
1Loss-
CASTOR1-
-
-
-
1Loss-
CAT-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN1-
-
-
-
3Gain-
CAVIN2-
-
-
-
1Loss-
CAVIN3-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLN2-
-
-
-
3Gain-
CBR4-
-
-
-
1Loss-
CBWD2-
-
-
-
1Loss-
CBX1-
-
-
-
3Gain-
CBX2-
-
-
-
3Gain-
CBX4-
-
-
-
3Gain-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBX8-
-
-
-
3Gain-
CBY1-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCBE1-
-
-
-
3Gain-
CCDC102B-
-
-
-
3Gain-
CCDC103-
-
-
-
3Gain-
CCDC107-
-
-
-
1Loss-
CCDC110-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC115-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC127-
-
-
-
3Gain-
CCDC13-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC137-
-
-
-
3Gain-
CCDC138-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC140-
-
-
-
1Loss-
CCDC141-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC148-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC150-
-
-
-
1Loss-
CCDC152-
-
-
-
3Gain-
CCDC157-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC168p.R2006H
Missense
SNP
1.000
2--
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC172-
-
-
-
1Loss-
CCDC173-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC178-
-
-
-
3Gain-
CCDC179-
-
-
-
1Loss-
CCDC182-
-
-
-
3Gain-
CCDC186-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC30p.S133R
Missense
SNP
0.483
2--
CCDC34-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC40-
-
-
-
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC43-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
3Gain-
CCDC57-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC6-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
3Gain-
CCDC69-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC74A-
-
-
-
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC80-
-
-
-
3Gain-
CCDC93-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCIN-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL1-
-
-
-
3Gain-
CCL11-
-
-
-
3Gain-
CCL13-
-
-
-
3Gain-
CCL14-
-
-
-
3Gain-
CCL15-
-
-
-
3Gain-
CCL15-CCL14-
-
-
-
3Gain-
CCL16-
-
-
-
3Gain-
CCL18-
-
-
-
3Gain-
CCL19-
-
-
-
1Loss-
CCL2-
-
-
-
3Gain-
CCL20-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL23-
-
-
-
3Gain-
CCL27-
-
-
-
1Loss-
CCL28-
-
-
-
3Gain-
CCL3-
-
-
-
3Gain-
CCL3L1-
-
-
-
3Gain-
CCL4-
-
-
-
3Gain-
CCL4L2-
-
-
-
3Gain-
CCL5-
-
-
-
3Gain-
CCL7-
-
-
-
3Gain-
CCL8-
-
-
-
3Gain-
CCNA1-
-
-
-
1Loss-
CCNA2-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCNE2-
-
-
-
3Gain-
CCNG2-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNL2-
-
-
-
1Loss-
CCNO-
-
-
-
3Gain-
CCNT2-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR10-
-
-
-
3Gain-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR7-
-
-
-
3Gain-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCSER2-
-
-
-
1Loss-
CCT5-
-
-
-
3Gain-
CCT6B-
-
-
-
3Gain-
CD14-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD226-
-
-
-
3Gain-
CD28-
-
-
-
1Loss-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LG-
-
-
-
3Gain-
CD302-
-
-
-
1Loss-
CD38-
-
-
-
1Loss-
CD44-
-
-
-
1Loss-
CD47-
-
-
-
3Gain-
CD59-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD7-
-
-
-
3Gain-
CD72-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD80-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD83-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD8B2-
-
-
-
1Loss-
CD96-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDC20B-
-
-
-
3Gain-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC27-
-
-
-
3Gain-
CDC42EP1-
-
-
-
1Loss-
CDC42EP4-
-
-
-
3Gain-
CDC42SE2-
-
-
-
1Loss-
CDC6-
-
-
-
3Gain-
CDCA7-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDH10p.D724Y
Missense
SNP
0.601
3Gain-
CDH12-
-
-
-
3Gain-
CDH17-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
3Gain-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH23-
-
-
-
1Loss-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
3Gain-
CDH9-
-
-
-
4Gain-
CDHR1-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK12-
-
-
-
3Gain-
CDK15-
-
-
-
1Loss-
CDK3-
-
-
-
3Gain-
CDK5R1-
-
-
-
3Gain-
CDK5R2-
-
-
-
1Loss-
CDK5RAP3-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDKAL1-
-
-
-
3Gain-
CDKL2-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDRT15L2-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDV3-
-
-
-
3Gain-
CDX1-
-
-
-
1Loss-
CDX2-
-
-
-
3Gain-
CELF1-
-
-
-
1Loss-
CELF4-
-
-
-
3Gain-
CELSR1-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPM-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CENPX-
-
-
-
3Gain-
CEP112-
-
-
-
3Gain-
CEP120-
-
-
-
1Loss-
CEP131-
-
-
-
3Gain-
CEP135-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP192-
-
-
-
3Gain-
CEP295NL-
-
-
-
3Gain-
CEP44-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP72-
-
-
-
3Gain-
CEP76-
-
-
-
3Gain-
CEP95-
-
-
-
3Gain-
CEP97-
-
-
-
3Gain-
CERK-
-
-
-
1Loss-
CERKL-
-
-
-
1Loss-
CERS6-
-
-
-
1Loss-
CETN1-
-
-
-
3Gain-
CETN3-
-
-
-
1Loss-
CFAP100-
-
-
-
3Gain-
CFAP221-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
3Gain-
CFAP58-
-
-
-
1Loss-
CFAP65-
-
-
-
1Loss-
CFAP70-
-
-
-
1Loss-
CFAP74-
-
-
-
1Loss-
CFAP97-
-
-
-
1Loss-
CFAP97D1-
-
-
-
3Gain-
CFAP99-
-
-
-
1Loss-
CFC1-
-
-
-
1Loss-
CFC1B-
-
-
-
1Loss-
CFI-
-
-
-
1Loss-
CFLAR-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAD-
-
-
-
3Gain-
CHADL-
-
-
-
1Loss-
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD4-
-
-
-
1Loss-
CHCHD5-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD7-
-
-
-
3Gain-
CHDH-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHIC2-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP1B-
-
-
-
3Gain-
CHMP2B-
-
-
-
1Loss-
CHMP4C-
-
-
-
3Gain-
CHMP5-
-
-
-
1Loss-
CHMP6-
-
-
-
3Gain-
CHN1-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRD-
-
-
-
3Gain-
CHRM4-
-
-
-
1Loss-
CHRNA1-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRND-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST10-
-
-
-
1Loss-
CHST13-
-
-
-
3Gain-
CHST15-
-
-
-
1Loss-
CHST2-
-
-
-
3Gain-
CHST3-
-
-
-
1Loss-
CHST9-
-
-
-
3Gain-
CHSY3-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CIAO1-
-
-
-
1Loss-
CIDEA-
-
-
-
3Gain-
CIDEC-
-
-
-
1Loss-
CIP2A-
-
-
-
3Gain-
CIR1-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CISD3-
-
-
-
3Gain-
CISH-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKAP2L-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLASP1-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLCA2p.P536L
Missense
SNP
0.498
2--
CLCN2-
-
-
-
3Gain-
CLCN3-
-
-
-
1Loss-
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC10A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLGN-
-
-
-
1Loss-
CLK1-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLOCK-
-
-
-
1Loss-
CLPTM1L-
-
-
-
3Gain-
CLRN1-
-
-
-
3Gain-
CLRN2-
-
-
-
1Loss-
CLSTN2-
-
-
-
3Gain-
CLTA-
-
-
-
1Loss-
CLTC-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CMBL-
-
-
-
3Gain-
CMC1-
-
-
-
1Loss-
CMSS1-
-
-
-
3Gain-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNBD1-
-
-
-
3Gain-
CNBP-
-
-
-
3Gain-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNGA1-
-
-
-
1Loss-
CNGA3-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNMD-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNNM3-
-
-
-
1Loss-
CNNM4-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT11-
-
-
-
1Loss-
CNOT6L-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNP-
-
-
-
3Gain-
CNPPD1-
-
-
-
1Loss-
CNTD1-
-
-
-
3Gain-
CNTFR-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5-
-
-
-
3Gain-
CNTN6-
-
-
-
1Loss-
CNTNAP1-
-
-
-
3Gain-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP5p.P650H
Missense
SNP
0.717
1Loss-
CNTROB-
-
-
-
1Loss-
COA3-
-
-
-
3Gain-
COA5-
-
-
-
1Loss-
COASY-
-
-
-
3Gain-
COBLL1-
-
-
-
1Loss-
COG1-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL13A1-
-
-
-
1Loss-
COL14A1-
-
-
-
3Gain-
COL17A1-
-
-
-
1Loss-
COL1A1-
-
-
-
3Gain-
COL21A1-
-
-
-
3Gain-
COL22A1-
-
-
-
3Gain-
COL25A1-
-
-
-
1Loss-
COL3A1-
-
-
-
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A3BP-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A2-
-
-
-
1Loss-
COL6A3-
-
-
-
1Loss-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COLEC12-
-
-
-
3Gain-
COLQ-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COMMD3-BMI1p.T102M
Missense
SNP
0.535
2--
COMMD5-
-
-
-
3Gain-
COMMD8-
-
-
-
1Loss-
COMMD9-
-
-
-
1Loss-
COMTD1-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COPRS-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COPZ2-
-
-
-
3Gain-
COQ10B-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
CORO6-
-
-
-
3Gain-
COX11-
-
-
-
3Gain-
COX15-
-
-
-
1Loss-
COX17-
-
-
-
3Gain-
COX18-
-
-
-
1Loss-
COX5B-
-
-
-
1Loss-
COX6C-
-
-
-
3Gain-
COX7B2-
-
-
-
1Loss-
COX7C-
-
-
-
1Loss-
CP-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPD-
-
-
-
3Gain-
CPE-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPLANE1-
-
-
-
3Gain-
CPLX1-
-
-
-
1Loss-
CPLX4-
-
-
-
3Gain-
CPN1-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE9-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPS1-
-
-
-
1Loss-
CPSF1-
-
-
-
3Gain-
CPSF4L-
-
-
-
3Gain-
CPT1B-
-
-
-
1Loss-
CPTP-
-
-
-
1Loss-
CPXM2-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRBN-
-
-
-
1Loss-
CREB1-
-
-
-
1Loss-
CREB3-
-
-
-
1Loss-
CREB3L1-
-
-
-
1Loss-
CREG2-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRHBP-
-
-
-
1Loss-
CRHR1-
-
-
-
3Gain-
CRIPAKp.R154W
Missense
SNP
0.444
NDND-
CRISPLD1-
-
-
-
3Gain-
CRK-
-
-
-
1Loss-
CRLF3-
-
-
-
3Gain-
CRMP1-
-
-
-
1Loss-
CROCC2-
-
-
-
1Loss-
CRTAC1-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRY2-
-
-
-
1Loss-
CRYBA1-
-
-
-
3Gain-
CRYBA2-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYBG3-
-
-
-
3Gain-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CSDC2-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSF3-
-
-
-
3Gain-
CSGALNACT2-
-
-
-
1Loss-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSMD2p.S2975R
Missense
SNP
0.508
2--
CSMD3-
-
-
-
3Gain-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1D-
-
-
-
3Gain-
CSNK1E-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CSRNP1-
-
-
-
1Loss-
CSRNP3-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CSTA-
-
-
-
3Gain-
CSTF2T-
-
-
-
1Loss-
CSTF3-
-
-
-
1Loss-
CTAGE1-
-
-
-
3Gain-
CTBP1-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
3Gain-
CTDSP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTIF-
-
-
-
3Gain-
CTLA4-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNND2-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSO-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUEDC1-
-
-
-
3Gain-
CUEDC2-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUTC-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC22-
-
-
-
1Loss-
CWC25-
-
-
-
3Gain-
CWC27-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CWH43-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR4-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
3Gain-
CXXC4-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561-
-
-
-
3Gain-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
3Gain-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYBC1-
-
-
-
3Gain-
CYBRD1-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYGB-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11B1p.R123H
Missense
SNP
0.115
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP17A1-
-
-
-
1Loss-
CYP20A1-
-
-
-
1Loss-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP27C1-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2U1-
-
-
-
1Loss-
CYP4V2-
-
-
-
1Loss-
CYP7B1-
-
-
-
3Gain-
CYP8B1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYSTM1-
-
-
-
1Loss-
CYTH1-
-
-
-
3Gain-
CYTH4-
-
-
-
1Loss-
CYTIP-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAB2-
-
-
-
3Gain-
DACH1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAP-
-
-
-
3Gain-
DAPL1-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DARS-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBF4B-
-
-
-
3Gain-
DBI-
-
-
-
1Loss-
DBR1-
-
-
-
3Gain-
DBX1-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF13-
-
-
-
3Gain-
DCAF16-
-
-
-
1Loss-
DCAF17-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCAF4L2-
-
-
-
3Gain-
DCAF7-
-
-
-
3Gain-
DCAKD-
-
-
-
3Gain-
DCANP1-
-
-
-
1Loss-
DCBLD2-
-
-
-
3Gain-
DCC-
-
-
-
3Gain-
DCDC1-
-
-
-
1Loss-
DCDC2-
-
-
-
3Gain-
DCHS1-
-
-
-
1Loss-
DCHS2-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCSTAMP-
-
-
-
3Gain-
DCT-
-
-
-
3Gain-
DCTD-
-
-
-
1Loss-
DCTN3-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D4-
-
-
-
1Loss-
DCXR-
-
-
-
3Gain-
DDB2-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX18-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX4-
-
-
-
3Gain-
DDX42-
-
-
-
3Gain-
DDX46-
-
-
-
1Loss-
DDX5-
-
-
-
3Gain-
DDX50-
-
-
-
1Loss-
DDX52-
-
-
-
3Gain-
DDX58-
-
-
-
1Loss-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DECR1-
-
-
-
3Gain-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEK-
-
-
-
3Gain-
DELE1-
-
-
-
1Loss-
DENND3-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DEPDC1B-
-
-
-
3Gain-
DEPDC5-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGAT2p.I94V
Missense
SNP
0.468
2--
DGKD-
-
-
-
1Loss-
DGKE-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DGKQp.P352S
Missense
SNP
0.629
1Loss-
DGKZ-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHRS11-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS13-
-
-
-
3Gain-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHRS9-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX29-
-
-
-
3Gain-
DHX30-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX36-
-
-
-
3Gain-
DHX40-
-
-
-
3Gain-
DHX58-
-
-
-
3Gain-
DHX8-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIAPH3-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIRC1-
-
-
-
1Loss-
DIRC2-
-
-
-
3Gain-
DIS3-
-
-
-
1Loss-
DIS3L2-
-
-
-
1Loss-
DKK1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DLC1p.R54H
Missense
SNP
0.579
2--
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLG4-
-
-
-
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP1-
-
-
-
3Gain-
DLX1-
-
-
-
1Loss-
DLX2-
-
-
-
1Loss-
DLX3-
-
-
-
3Gain-
DLX4-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMC1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH17-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH5-
-
-
-
3Gain-
DNAH7-
-
-
-
1Loss-
DNAI1-
-
-
-
1Loss-
DNAI2-
-
-
-
3Gain-
DNAJA1-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB12-
-
-
-
1Loss-
DNAJB14-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJB5-
-
-
-
1Loss-
DNAJB7-
-
-
-
1Loss-
DNAJB8-
-
-
-
3Gain-
DNAJC10-
-
-
-
1Loss-
DNAJC12-
-
-
-
1Loss-
DNAJC13-
-
-
-
3Gain-
DNAJC15-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC24-
-
-
-
1Loss-
DNAJC5B-
-
-
-
3Gain-
DNAJC7-
-
-
-
3Gain-
DNAJC9-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNPEP-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOK6-
-
-
-
3Gain-
DOK7-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPP10-
-
-
-
1Loss-
DPP4-
-
-
-
1Loss-
DPP6p.I7M
Missense
SNP
0.485
2--
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL3-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD3-
-
-
-
3Gain-
DRD4-
-
-
-
1Loss-
DRD5p.Y410*
Nonsense
SNP
0.284
1Loss-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSC1-
-
-
-
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSCC1-
-
-
-
3Gain-
DSEL-
-
-
-
3Gain-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DSPP-
-
-
-
1Loss-
DST-
-
-
-
3Gain-
DTHD1-
-
-
-
1Loss-
DTNA-
-
-
-
3Gain-
DTNBP1-
-
-
-
3Gain-
DTWD2-
-
-
-
1Loss-
DTX2-
-
-
-
1Loss-
DTX3L-
-
-
-
3Gain-
DTYMK-
-
-
-
1Loss-
DUPD1-
-
-
-
1Loss-
DUS1L-
-
-
-
3Gain-
DUSP11p.I251V
Missense
SNP
0.540
2--
DUSP13-
-
-
-
1Loss-
DUSP14-
-
-
-
3Gain-
DUSP18-
-
-
-
1Loss-
DUSP19-
-
-
-
1Loss-
DUSP2-
-
-
-
1Loss-
DUSP28-
-
-
-
1Loss-
DUSP3-
-
-
-
3Gain-
DUSP5-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1I2-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNLL2-
-
-
-
3Gain-
DYTN-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
3Gain-
E2F3-
-
-
-
3Gain-
E2F5-
-
-
-
3Gain-
E2F8-
-
-
-
1Loss-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EBAG9-
-
-
-
3Gain-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECEL1-
-
-
-
1Loss-
ECSCR-
-
-
-
1Loss-
ECT2-
-
-
-
3Gain-
EDAR-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EDN1-
-
-
-
3Gain-
EDNRA-
-
-
-
1Loss-
EDRF1-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1B2-
-
-
-
1Loss-
EEF1D-
-
-
-
3Gain-
EEFSEC-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCAB13-
-
-
-
3Gain-
EFCAB3-
-
-
-
3Gain-
EFCAB5-
-
-
-
3Gain-
EFCAB6-
-
-
-
1Loss-
EFCC1-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFHC1-
-
-
-
3Gain-
EFHD1-
-
-
-
1Loss-
EFNA5-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFTUD2-
-
-
-
3Gain-
EGF-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EGR1-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EIF1-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2AK3-
-
-
-
1Loss-
EIF2B5-
-
-
-
3Gain-
EIF3A-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3E-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3H-
-
-
-
3Gain-
EIF3L-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4A3-
-
-
-
3Gain-
EIF4E-
-
-
-
1Loss-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF4G2-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
3Gain-
EIF5AL1-
-
-
-
1Loss-
EIF5B-
-
-
-
1Loss-
ELAC1-
-
-
-
3Gain-
ELANEp.L19M
Missense
SNP
0.577
2--
ELF1-
-
-
-
1Loss-
ELF2-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELFN2-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELMOD2-
-
-
-
1Loss-
ELOA2-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
ELOVL2-
-
-
-
3Gain-
ELOVL3-
-
-
-
1Loss-
ELOVL5-
-
-
-
3Gain-
ELOVL6-
-
-
-
1Loss-
ELOVL7-
-
-
-
3Gain-
ELP2-
-
-
-
3Gain-
ELP4-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMB-
-
-
-
3Gain-
EMC2-
-
-
-
3Gain-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EME1-
-
-
-
3Gain-
EMID1-
-
-
-
1Loss-
EMILIN2-
-
-
-
3Gain-
EMX2-
-
-
-
1Loss-
EN1-
-
-
-
1Loss-
ENAM-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOV-
-
-
-
3Gain-
ENGASE-
-
-
-
3Gain-
ENHO-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOSF1-
-
-
-
3Gain-
ENOX1-
-
-
-
1Loss-
ENPEP-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENPP6-
-
-
-
1Loss-
ENPP7-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
ENY2-
-
-
-
3Gain-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EPB41L3-
-
-
-
3Gain-
EPB41L4A-
-
-
-
1Loss-
EPB41L5-
-
-
-
1Loss-
EPC2-
-
-
-
1Loss-
EPG5-
-
-
-
3Gain-
EPGN-
-
-
-
1Loss-
EPHA3p.P846A
Missense
SNP
1.000
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA5-
-
-
-
1Loss-
EPHA6-
-
-
-
3Gain-
EPHB1-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPN3-
-
-
-
3Gain-
EPOP-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPS8L2-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
EPX-
-
-
-
3Gain-
ERAL1-
-
-
-
3Gain-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB2-
-
-
-
3Gain-
ERBB4-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC3-
-
-
-
1Loss-
ERCC6-
-
-
-
1Loss-
ERCC8-
-
-
-
5Amp-
EREG-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERICH2-
-
-
-
1Loss-
ERICH5-
-
-
-
3Gain-
ERICH6-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERMN-
-
-
-
1Loss-
ERN1-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
1Loss-
ESCO1-
-
-
-
3Gain-
ESD-
-
-
-
1Loss-
ESM1-
-
-
-
3Gain-
ESPNL-
-
-
-
1Loss-
ESRP1-
-
-
-
3Gain-
ESYT3-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFDH-
-
-
-
1Loss-
ETNPPL-
-
-
-
1Loss-
ETV4-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI2A-
-
-
-
3Gain-
EVI2B-
-
-
-
3Gain-
EVPL-
-
-
-
3Gain-
EVPLL-
-
-
-
1Loss-
EVX2-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3-
-
-
-
3Gain-
EXOC6-
-
-
-
1Loss-
EXOC7-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXT1-
-
-
-
3Gain-
EXT2-
-
-
-
1Loss-
EYA1-
-
-
-
3Gain-
EZH1-
-
-
-
3Gain-
F11-
-
-
-
1Loss-
F13Bp.C267W
Missense
SNP
0.455
2--
F2-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
FAAP100-
-
-
-
3Gain-
FAAP20-
-
-
-
1Loss-
FABP1-
-
-
-
1Loss-
FABP12-
-
-
-
3Gain-
FABP2-
-
-
-
1Loss-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FADS6-
-
-
-
3Gain-
FAHD2A-
-
-
-
1Loss-
FAHD2B-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM104A-
-
-
-
3Gain-
FAM107A-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM117A-
-
-
-
3Gain-
FAM117B-
-
-
-
1Loss-
FAM118A-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126B-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM135B-
-
-
-
3Gain-
FAM13A-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM160A1-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM162A-
-
-
-
3Gain-
FAM166B-
-
-
-
1Loss-
FAM168B-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171A2-
-
-
-
3Gain-
FAM171B-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM173B-
-
-
-
3Gain-
FAM174A-
-
-
-
1Loss-
FAM178B-
-
-
-
1Loss-
FAM180B-
-
-
-
1Loss-
FAM184B-
-
-
-
1Loss-
FAM187A-
-
-
-
3Gain-
FAM193A-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM198B-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM200B-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM20A-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM214B-
-
-
-
1Loss-
FAM216B-
-
-
-
1Loss-
FAM218A-
-
-
-
1Loss-
FAM219A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM222B-
-
-
-
3Gain-
FAM227A-
-
-
-
1Loss-
FAM237A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM240B-
-
-
-
1Loss-
FAM241A-
-
-
-
1Loss-
FAM241B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
3Gain-
FAM45A-
-
-
-
1Loss-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69C-
-
-
-
3Gain-
FAM81B-
-
-
-
1Loss-
FAM83A-
-
-
-
3Gain-
FAM83B-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
3Gain-
FAM8A1-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM95C-
-
-
-
1Loss-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAP-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASN-
-
-
-
3Gain-
FASTKD1-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FASTKD3-
-
-
-
3Gain-
FAT1-
-
-
-
1Loss-
FAT2-
-
-
-
1Loss-
FAT4-
-
-
-
1Loss-
FBF1-
-
-
-
3Gain-
FBLN1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBLN7-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBXL15-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL20-
-
-
-
3Gain-
FBXL5-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXL7-
-
-
-
3Gain-
FBXO10-
-
-
-
1Loss-
FBXO15-
-
-
-
3Gain-
FBXO3-
-
-
-
1Loss-
FBXO32-
-
-
-
3Gain-
FBXO36-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO40-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO47-
-
-
-
3Gain-
FBXO7-
-
-
-
1Loss-
FBXO8-
-
-
-
1Loss-
FBXO9-
-
-
-
3Gain-
FBXW10-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FDCSP-
-
-
-
1Loss-
FDXR-
-
-
-
3Gain-
FECH-
-
-
-
3Gain-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FER1L5-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEV-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FFAR4-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
3Gain-
FGF2-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FGL1-
-
-
-
3Gain-
FHDC1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHL2-
-
-
-
1Loss-
FHOD3-
-
-
-
3Gain-
FIBIN-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FILIP1L-
-
-
-
3Gain-
FIP1L1-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP10-
-
-
-
3Gain-
FKBP7-
-
-
-
1Loss-
FLCN-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1LossFLNB--TRIOBP
FLOT2-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FMNL1-
-
-
-
3Gain-
FMNL2-
-
-
-
1Loss-
FN1-
-
-
-
1Loss-
FN3K-
-
-
-
3Gain-
FN3KRP-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC10-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
3Gain-
FNDC8-
-
-
-
3Gain-
FNIP1-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FO681492.1-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXI3-
-
-
-
1Loss-
FOXJ1-
-
-
-
3Gain-
FOXK2-
-
-
-
3Gain-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXN1-
-
-
-
3Gain-
FOXO1-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXRED2-
-
-
-
1Loss-
FRA10AC1-
-
-
-
1Loss-
FRAS1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRY-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FRZB-
-
-
-
1Loss-
FSBP-
-
-
-
3Gain-
FSCN2-
-
-
-
3Gain-
FSHB-
-
-
-
1Loss-
FSIP2-
-
-
-
1Loss-
FST-
-
-
-
3Gain-
FSTL1-
-
-
-
3Gain-
FSTL4-
-
-
-
1Loss-
FSTL5-
-
-
-
1Loss-
FTCDNL1-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTSJ3-
-
-
-
3Gain-
FUKp.R899C
Missense
SNP
0.246
2--
FUT11-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FXR2-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD2-
-
-
-
3Gain-
FZD5-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
FZD7-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
G6PC-
-
-
-
3Gain-
G6PC2-
-
-
-
1Loss-
G6PC3-
-
-
-
3Gain-
GAA-
-
-
-
3Gain-
GAB1-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRD-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GAD1-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GALK1-
-
-
-
3Gain-
GALNT1-
-
-
-
3Gain-
GALNT13-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT3-
-
-
-
1Loss-
GALNT5-
-
-
-
1Loss-
GALNT7-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
3Gain-
GALR2-
-
-
-
3Gain-
GALR3-
-
-
-
1Loss-
GALT-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAPT-
-
-
-
3Gain-
GAR1-
-
-
-
1Loss-
GAREM1-
-
-
-
3Gain-
GAS2-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GAS2L2-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GAST-
-
-
-
3Gain-
GATA2-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GBA2-
-
-
-
1Loss-
GBA3-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GC-
-
-
-
1Loss-
GCA-
-
-
-
1Loss-
GCAT-
-
-
-
1Loss-
GCC2-
-
-
-
1Loss-
GCG-
-
-
-
1Loss-
GCGR-
-
-
-
3Gain-
GCLC-
-
-
-
3Gain-
GCM1-
-
-
-
3Gain-
GCM2-
-
-
-
3Gain-
GCNT2-
-
-
-
3Gain-
GCNT4-
-
-
-
1Loss-
GCSAM-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF6-
-
-
-
3Gain-
GDF9-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPD1-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GEMIN4-
-
-
-
1Loss-
GFAP-
-
-
-
3Gain-
GFM1-
-
-
-
3Gain-
GFM2-
-
-
-
1Loss-
GFOD1-
-
-
-
3Gain-
GFRA1-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFRAL-
-
-
-
3Gain-
GGA1-
-
-
-
1Loss-
GGA3-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGNBP2-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GGTLC2-
-
-
-
1Loss-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHDC-
-
-
-
3Gain-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GIGYF2-
-
-
-
1Loss-
GIMD1-
-
-
-
1Loss-
GIN1-
-
-
-
1Loss-
GIP-
-
-
-
3Gain-
GIT1-
-
-
-
3Gain-
GJC1-
-
-
-
3Gain-
GJD3-
-
-
-
3Gain-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLI2-
-
-
-
1Loss-
GLI4-
-
-
-
3Gain-
GLIPR2-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLS-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GML-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GMNN-
-
-
-
3Gain-
GMPPA-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GMPR-
-
-
-
3Gain-
GMPS-
-
-
-
3Gain-
GNA13-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAL-
-
-
-
3Gain-
GNAT1-
-
-
-
1Loss-
GNAZ-
-
-
-
1Loss-
GNB1-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNE-
-
-
-
1Loss-
GNGT2-
-
-
-
3Gain-
GNL3-
-
-
-
1Loss-
GNPDA1-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNRHR-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLPH3-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GORASP2-
-
-
-
1Loss-
GOSR1-
-
-
-
3Gain-
GOSR2-
-
-
-
3Gain-
GOT1-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPAM-
-
-
-
1Loss-
GPAT2-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPATCH8-
-
-
-
3Gain-
GPBAR1-
-
-
-
1Loss-
GPBP1-
-
-
-
3Gain-
GPC1-
-
-
-
1Loss-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPD2-
-
-
-
1Loss-
GPIHBP1-
-
-
-
3Gain-
GPLD1-
-
-
-
3Gain-
GPM6A-
-
-
-
1Loss-
GPR1-
-
-
-
1Loss-
GPR142-
-
-
-
3Gain-
GPR148-
-
-
-
1Loss-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR155-
-
-
-
1Loss-
GPR156-
-
-
-
3Gain-
GPR160-
-
-
-
3Gain-
GPR17-
-
-
-
1Loss-
GPR171-
-
-
-
3Gain-
GPR179-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR26-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR39-
-
-
-
1Loss-
GPR45-
-
-
-
1Loss-
GPR55-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR87-
-
-
-
3Gain-
GPRC5C-
-
-
-
3Gain-
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPS1-
-
-
-
3Gain-
GPS2-
-
-
-
1Loss-
GPT-
-
-
-
3Gain-
GPX1-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX8-
-
-
-
3Gain-
GRAMD1C-
-
-
-
3Gain-
GRAMD2B-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB14-
-
-
-
1Loss-
GRB2-
-
-
-
3Gain-
GRB7-
-
-
-
3Gain-
GREB1L-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRHPR-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRIA2-
-
-
-
1Loss-
GRID1-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRIN2C-
-
-
-
3Gain-
GRINA-
-
-
-
3Gain-
GRIP2-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM2-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRN-
-
-
-
3Gain-
GRP-
-
-
-
3Gain-
GRPEL1-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSDMA-
-
-
-
3Gain-
GSDMB-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSG1L2-
-
-
-
1Loss-
GSK3B-
-
-
-
3Gain-
GSTA1-
-
-
-
3Gain-
GSTA2-
-
-
-
3Gain-
GSTA3-
-
-
-
3Gain-
GSTA4-
-
-
-
3Gain-
GSTA5-
-
-
-
3Gain-
GSTCD-
-
-
-
1Loss-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSX1-
-
-
-
3Gain-
GSX2-
-
-
-
1Loss-
GTDC1-
-
-
-
1Loss-
GTF2E1-
-
-
-
3Gain-
GTF2F2-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2IRD1p.C15S
Missense
SNP
0.472
2--
GTF3C3-
-
-
-
1Loss-
GTPBP1-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GTSE1-
-
-
-
1Loss-
GUCA1C-
-
-
-
3Gain-
GUCD1-
-
-
-
1Loss-
GUCY1A1-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GULP1-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPC-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GZMA-
-
-
-
3Gain-
GZMK-
-
-
-
3Gain-
H1F0-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFY-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H3F3B-
-
-
-
3Gain-
HABP2-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HACL1-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAP1-
-
-
-
3Gain-
HAPLN1-
-
-
-
1Loss-
HARBI1-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS2-
-
-
-
3Gain-
HASPIN-
-
-
-
1Loss-
HAT1-
-
-
-
1Loss-
HAUS1-
-
-
-
3Gain-
HAUS3-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HCLS1-
-
-
-
3Gain-
HCN1-
-
-
-
3Gain-
HCRT-
-
-
-
3Gain-
HCRTR2-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDAC5-
-
-
-
3Gain-
HDGFL1p.D134N
Missense
SNP
0.388
3Gain-
HDHD2-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HEATR6-
-
-
-
3Gain-
HEATR9-
-
-
-
3Gain-
HECTD2-
-
-
-
1Loss-
HECW2-
-
-
-
1Loss-
HEG1-
-
-
-
3Gain-
HELLS-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZ-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HERC3-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HES1-
-
-
-
3Gain-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HES6-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEXDC-
-
-
-
3Gain-
HEXIM1-
-
-
-
3Gain-
HEXIM2-
-
-
-
3Gain-
HEY1-
-
-
-
3Gain-
HFE-
-
-
-
3Gain-
HGD-
-
-
-
3Gain-
HGFAC-
-
-
-
1Loss-
HGH1-
-
-
-
3Gain-
HGS-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHLA1-
-
-
-
3Gain-
HHLA2-
-
-
-
3Gain-
HIBCH-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HID1-
-
-
-
3Gain-
HIF1AN-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HIGD1B-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HIPK3-
-
-
-
1Loss-
HIST1H1A-
-
-
-
3Gain-
HIST1H1C-
-
-
-
3Gain-
HIST1H2AA-
-
-
-
3Gain-
HIST1H2AB-
-
-
-
3Gain-
HIST1H2BA-
-
-
-
3Gain-
HIST1H2BB-
-
-
-
3Gain-
HIST1H3A-
-
-
-
3Gain-
HIST1H3B-
-
-
-
3Gain-
HIST1H3C-
-
-
-
3Gain-
HIST1H3Ip.V90M
Missense
SNP
0.357
2--
HIST1H4A-
-
-
-
3Gain-
HIST1H4B-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
2-HIST2H2AC--RN7SL1
HIVEP1-
-
-
-
3Gain-
HJURP-
-
-
-
1Loss-
HK1-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HLF-
-
-
-
3Gain-
HLTF-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMGB1-
-
-
-
1Loss-
HMGB2-
-
-
-
1Loss-
HMGCLL1-
-
-
-
3Gain-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMSD-
-
-
-
3Gain-
HMX1-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1B-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNMT-
-
-
-
1Loss-
HNRNPA0-
-
-
-
1Loss-
HNRNPA3-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOPX-
-
-
-
1Loss-
HORMAD2-
-
-
-
1Loss-
HOXB1-
-
-
-
3Gain-
HOXB13-
-
-
-
3Gain-
HOXB2-
-
-
-
3Gain-
HOXB3-
-
-
-
3Gain-
HOXB4-
-
-
-
3Gain-
HOXB5-
-
-
-
3Gain-
HOXB6-
-
-
-
3Gain-
HOXB7-
-
-
-
3Gain-
HOXB8-
-
-
-
3Gain-
HOXB9-
-
-
-
3Gain-
HOXD1-
-
-
-
1Loss-
HOXD10-
-
-
-
1Loss-
HOXD11-
-
-
-
1Loss-
HOXD12-
-
-
-
1Loss-
HOXD13-
-
-
-
1Loss-
HOXD3-
-
-
-
1Loss-
HOXD4-
-
-
-
1Loss-
HOXD8-
-
-
-
1Loss-
HOXD9-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HPS4-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRASLS-
-
-
-
3Gain-
HRCT1-
-
-
-
1Loss-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRH4-
-
-
-
3Gain-
HS3ST1-
-
-
-
1Loss-
HS6ST1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
3Gain-
HSCB-
-
-
-
1Loss-
HSD17B1-
-
-
-
3Gain-
HSD17B11-
-
-
-
1Loss-
HSD17B12-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSF1-
-
-
-
3Gain-
HSF5-
-
-
-
3Gain-
HSPA12A-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB3-
-
-
-
3Gain-
HSPB9-
-
-
-
3Gain-
HSPBAP1-
-
-
-
3Gain-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HSPH1-
-
-
-
1Loss-
HTATIP2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR4-
-
-
-
1Loss-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
IBSP-
-
-
-
1Loss-
ICA1L-
-
-
-
1Loss-
ICAM2-
-
-
-
3Gain-
ICE1-
-
-
-
3Gain-
ICK-
-
-
-
3Gain-
ICOS-
-
-
-
1Loss-
ID4-
-
-
-
3Gain-
IDE-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IER3IP1-
-
-
-
3Gain-
IFI35-
-
-
-
3Gain-
IFIH1-
-
-
-
1Loss-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
3Gain-
IFT20-
-
-
-
3Gain-
IFT27-
-
-
-
1Loss-
IFT57-
-
-
-
3Gain-
IFT80-
-
-
-
3Gain-
IGF2-
-
-
-
1Loss-
IGF2BP1-
-
-
-
3Gain-
IGF2BP2-
-
-
-
3Gain-
IGFBP2-
-
-
-
1Loss-
IGFBP4-
-
-
-
3Gain-
IGFBP5-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGFN1p.G2115R
Missense
SNP
0.116
2--
IGIP-
-
-
-
1Loss-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33-
-
-
-
1Loss-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF22-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IKZF3-
-
-
-
3Gain-
IKZF5-
-
-
-
1Loss-
IL11RA-
-
-
-
1Loss-
IL12A-
-
-
-
3Gain-
IL13-
-
-
-
1Loss-
IL15-
-
-
-
1Loss-
IL17A-
-
-
-
3Gain-
IL17B-
-
-
-
1Loss-
IL17F-
-
-
-
3Gain-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL18R1-
-
-
-
1Loss-
IL18RAP-
-
-
-
1Loss-
IL1A-
-
-
-
1Loss-
IL1B-
-
-
-
1Loss-
IL1F10-
-
-
-
1Loss-
IL1R1-
-
-
-
1Loss-
IL1R2-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL1RL1-
-
-
-
1Loss-
IL1RL2-
-
-
-
1Loss-
IL1RN-
-
-
-
1Loss-
IL2-
-
-
-
1Loss-
IL20RB-
-
-
-
3Gain-
IL21-
-
-
-
1Loss-
IL2RB-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
3Gain-
IL36A-
-
-
-
1Loss-
IL36B-
-
-
-
1Loss-
IL36G-
-
-
-
1Loss-
IL36RN-
-
-
-
1Loss-
IL37-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6ST-
-
-
-
3Gain-
IL7-
-
-
-
3Gain-
IL7R-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILDR1-
-
-
-
3Gain-
ILK-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMP4-
-
-
-
1Loss-
IMPA1-
-
-
-
3Gain-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
INA-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBB-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INO80C-
-
-
-
3Gain-
INO80D-
-
-
-
1Loss-
INPP1-
-
-
-
1Loss-
INPP4A-
-
-
-
1Loss-
INPP4B-
-
-
-
1Loss-
INPP5D-
-
-
-
1Loss-
INPP5F-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSIG2-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INTS11-
-
-
-
1Loss-
INTS12-
-
-
-
1Loss-
INTS2-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTS8-
-
-
-
3Gain-
INTU-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCA1-
-
-
-
1Loss-
IQCB1-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQGAP2-
-
-
-
1Loss-
IQSEC1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
3Gain-
ISG15-
-
-
-
1Loss-
ISL1-
-
-
-
3Gain-
ISOC1-
-
-
-
1Loss-
ISX-
-
-
-
1Loss-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITGA1-
-
-
-
3Gain-
ITGA2-
-
-
-
3Gain-
ITGA2B-
-
-
-
3Gain-
ITGA3-
-
-
-
3Gain-
ITGA4-
-
-
-
1Loss-
ITGA6-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGAV-
-
-
-
1Loss-
ITGB3-
-
-
-
3Gain-
ITGB4-
-
-
-
3Gain-
ITGB5-
-
-
-
3Gain-
ITGB6-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPRID2-
-
-
-
1Loss-
ITPRIP-
-
-
-
1Loss-
ITPRIPL1-
-
-
-
1Loss-
IWS1-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JARID2-
-
-
-
3Gain-
JCHAIN-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD6-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JPH1-
-
-
-
3Gain-
JPT1-
-
-
-
3Gain-
JRK-
-
-
-
3Gain-
JRKL-
-
-
-
3Gain-
JUP-
-
-
-
3Gain-
KAAG1-
-
-
-
3Gain-
KALRN-
-
-
-
3Gain-
KANSL1-
-
-
-
3Gain-
KANSL1L-
-
-
-
1Loss-
KANSL3-
-
-
-
1Loss-
KAT2A-
-
-
-
3Gain-
KAT2B-
-
-
-
1Loss-
KAT6B-
-
-
-
1Loss-
KAT7-
-
-
-
3Gain-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
3Gain-
KAZALD1-
-
-
-
1Loss-
KBTBD12-
-
-
-
3Gain-
KBTBD4-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCNB2-
-
-
-
3Gain-
KCNC1-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG2-
-
-
-
3Gain-
KCNH4-
-
-
-
3Gain-
KCNH6-
-
-
-
3Gain-
KCNH7-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP3-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ11-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ16-
-
-
-
3Gain-
KCNJ18-
-
-
-
1Loss-
KCNJ2-
-
-
-
3Gain-
KCNJ3-
-
-
-
1Loss-
KCNJ4-
-
-
-
1Loss-
KCNK18-
-
-
-
1Loss-
KCNK9-
-
-
-
3Gain-
KCNMA1p.S382N
Missense
SNP
0.400
1Loss-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNN2-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ3-
-
-
-
3Gain-
KCNRG-
-
-
-
1Loss-
KCNS2-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCTD1-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD2-
-
-
-
3Gain-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KDELR3-
-
-
-
1Loss-
KDM1B-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDR-
-
-
-
1Loss-
KDSR-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KIAA0100-
-
-
-
3Gain-
KIAA0232-
-
-
-
1Loss-
KIAA0319-
-
-
-
3Gain-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0930-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1211L-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIAA1324Lp.Y687C
Missense
SNP
0.549
2--
KIAA1328-
-
-
-
3Gain-
KIAA1549L-
-
-
-
1Loss-
KIAA1586-
-
-
-
3Gain-
KIAA1671-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF13A-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF18B-
-
-
-
3Gain-
KIF19-
-
-
-
3Gain-
KIF1A-
-
-
-
1Loss-
KIF1BP-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF24-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF2B-
-
-
-
3Gain-
KIF3A-
-
-
-
1Loss-
KIF4Ap.R702L
Missense
SNP
1.000
NDND-
KIF5C-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFC2-
-
-
-
3Gain-
KIT-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLB-
-
-
-
1Loss-
KLF10-
-
-
-
3Gain-
KLF12-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF3-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL10-
-
-
-
3Gain-
KLHL11-
-
-
-
3Gain-
KLHL14-
-
-
-
3Gain-
KLHL17-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL2-
-
-
-
1Loss-
KLHL23-
-
-
-
1Loss-
KLHL24-
-
-
-
3Gain-
KLHL3-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL31-
-
-
-
3Gain-
KLHL38-
-
-
-
3Gain-
KLHL40-
-
-
-
1Loss-
KLHL41-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLLN-
-
-
-
1Loss-
KNG1-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNA4-
-
-
-
3Gain-
KPNB1-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRCC1-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRT10-
-
-
-
3Gain-
KRT12-
-
-
-
3Gain-
KRT13-
-
-
-
3Gain-
KRT14-
-
-
-
3Gain-
KRT15-
-
-
-
3Gain-
KRT16-
-
-
-
3Gain-
KRT17-
-
-
-
3Gain-
KRT19-
-
-
-
3Gain-
KRT20-
-
-
-
3Gain-
KRT222-
-
-
-
3Gain-
KRT23-
-
-
-
3Gain-
KRT24-
-
-
-
3Gain-
KRT25-
-
-
-
3Gain-
KRT26-
-
-
-
3Gain-
KRT27-
-
-
-
3Gain-
KRT28-
-
-
-
3Gain-
KRT31-
-
-
-
3Gain-
KRT32-
-
-
-
3Gain-
KRT33A-
-
-
-
3Gain-
KRT33B-
-
-
-
3Gain-
KRT34-
-
-
-
3Gain-
KRT35-
-
-
-
3Gain-
KRT36-
-
-
-
3Gain-
KRT37-
-
-
-
3Gain-
KRT38-
-
-
-
3Gain-
KRT39-
-
-
-
3Gain-
KRT40-
-
-
-
3Gain-
KRT9-
-
-
-
3Gain-
KRTAP1-1-
-
-
-
3Gain-
KRTAP1-3-
-
-
-
3Gain-
KRTAP1-5-
-
-
-
3Gain-
KRTAP16-1-
-
-
-
3Gain-
KRTAP17-1-
-
-
-
3Gain-
KRTAP29-1-
-
-
-
3Gain-
KRTAP3-1-
-
-
-
3Gain-
KRTAP3-2-
-
-
-
3Gain-
KRTAP3-3-
-
-
-
3Gain-
KRTAP4-1-
-
-
-
3Gain-
KRTAP4-11-
-
-
-
3Gain-
KRTAP4-12-
-
-
-
3Gain-
KRTAP4-16-
-
-
-
3Gain-
KRTAP4-2-
-
-
-
3Gain-
KRTAP4-3-
-
-
-
3Gain-
KRTAP4-4-
-
-
-
3Gain-
KRTAP4-6-
-
-
-
3Gain-
KRTAP4-7-
-
-
-
3Gain-
KRTAP4-8-
-
-
-
3Gain-
KRTAP4-9-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP9-1-
-
-
-
3Gain-
KRTAP9-2-
-
-
-
3Gain-
KRTAP9-3-
-
-
-
3Gain-
KRTAP9-4-
-
-
-
3Gain-
KRTAP9-7-
-
-
-
3Gain-
KRTAP9-8-
-
-
-
3Gain-
KRTAP9-9-
-
-
-
3Gain-
KSR1-
-
-
-
3Gain-
KY-
-
-
-
3Gain-
KYNU-
-
-
-
1Loss-
L3MBTL2-
-
-
-
1Loss-
L3MBTL4-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LACTB2-
-
-
-
3Gain-
LAMA1-
-
-
-
3Gain-
LAMA3-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LAP3-
-
-
-
1Loss-
LAPTM4B-
-
-
-
3Gain-
LARGE1-
-
-
-
1Loss-
LARGE2-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LASP1-
-
-
-
3Gain-
LBX1-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCT-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LDLRAD4-
-
-
-
3Gain-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEF1-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LETM1-
-
-
-
1Loss-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS3BP-
-
-
-
3Gain-
LGALS9-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LHFPL2-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LHX1-
-
-
-
3Gain-
LIAS-
-
-
-
1Loss-
LIF-
-
-
-
1Loss-
LIFRp.R914L
Missense
SNP
0.580
3Gain-
LIG3-
-
-
-
3Gain-
LIMCH1-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIMD2-
-
-
-
3Gain-
LIMK2-
-
-
-
1Loss-
LIMS1-
-
-
-
1Loss-
LIMS2-
-
-
-
1Loss-
LIMS3-
-
-
-
1Loss-
LIMS3-LOC440895-
-
-
-
1Loss-
LIMS4-
-
-
-
1Loss-
LIN54-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LINC02210-CRHR1-
-
-
-
3Gain-
LIPA-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPG-
-
-
-
3Gain-
LIPH-
-
-
-
3Gain-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT1-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LLGL1-
-
-
-
1Loss-
LLGL2-
-
-
-
3Gain-
LMAN1-
-
-
-
3Gain-
LMAN2L-
-
-
-
1Loss-
LMBRD2-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMNB1-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LNPK-
-
-
-
1Loss-
LNX1-
-
-
-
1Loss-
LONRF2-
-
-
-
1Loss-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
3Gain-
LOXL4-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPCAT1-
-
-
-
3Gain-
LPIN2-
-
-
-
3Gain-
LPO-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRCH3-
-
-
-
3Gain-
LRIG1-
-
-
-
1Loss-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRIT3-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRP12-
-
-
-
3Gain-
LRP1B-
-
-
-
1Loss-
LRP2-
-
-
-
1Loss-
LRP2BP-
-
-
-
1Loss-
LRP4-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRRC1-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRC14B-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC30-
-
-
-
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC37A3-
-
-
-
3Gain-
LRRC37B-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC3C-
-
-
-
3Gain-
LRRC45-
-
-
-
3Gain-
LRRC46-
-
-
-
3Gain-
LRRC4C-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC59-
-
-
-
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC66-
-
-
-
1Loss-
LRRC69-
-
-
-
3Gain-
LRRC7p.Q1446K
Missense
SNP
0.504
2--
LRRC70-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRCC1-
-
-
-
3Gain-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRIQ4-
-
-
-
3Gain-
LRRN1-
-
-
-
1Loss-
LRRTM2-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM12-
-
-
-
3Gain-
LSM3-
-
-
-
1Loss-
LSM6-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LTBP1p.K133R
Missense
SNP
0.453
2--
LTBP2p.V906L
Missense
SNP
0.434
2--
LTF-
-
-
-
1Loss-
LUC7L3-
-
-
-
3Gain-
LUZP2-
-
-
-
1Loss-
LVRN-
-
-
-
1Loss-
LXN-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY75-
-
-
-
1Loss-
LY75-CD302-
-
-
-
1Loss-
LY96-
-
-
-
3Gain-
LYAR-
-
-
-
1Loss-
LYG1-
-
-
-
1Loss-
LYG2p.R34C
Missense
SNP
0.589
1Loss-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD1-
-
-
-
1Loss-
LYPD2-
-
-
-
3Gain-
LYPD6-
-
-
-
1Loss-
LYPD6B-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYRM9-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LYVE1-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LYZL6-
-
-
-
3Gain-
LZTFL1-
-
-
-
1Loss-
LZTS2-
-
-
-
1Loss-
MAATS1-
-
-
-
3Gain-
MAB21L1-
-
-
-
1Loss-
MAB21L2-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MAD2L1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFF-
-
-
-
1Loss-
MAFG-
-
-
-
3Gain-
MAGEF1-
-
-
-
3Gain-
MAGI1p.R1413L
Missense
SNP
1.000
1Loss-
MAIP1-
-
-
-
1Loss-
MAK-
-
-
-
3Gain-
MAL-
-
-
-
1Loss-
MAL2-
-
-
-
3Gain-
MALL-
-
-
-
1Loss-
MALT1-
-
-
-
3Gain-
MAML3-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2B2-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP2p.A1585S
Missense
SNP
0.333
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K6-
-
-
-
3Gain-
MAP3K1-
-
-
-
3Gain-
MAP3K13-
-
-
-
3Gain-
MAP3K14-
-
-
-
3Gain-
MAP3K19-
-
-
-
1Loss-
MAP3K2-
-
-
-
1Loss-
MAP3K20-
-
-
-
1Loss-
MAP3K3-
-
-
-
3Gain-
MAP4-
-
-
-
1Loss-
MAP4K4-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAP9-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK15-
-
-
-
3Gain-
MAPK4-
-
-
-
3Gain-
MAPK7-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MAPRE2-
-
-
-
3Gain-
MAPT-
-
-
-
3Gain-
MARCH1-
-
-
-
1Loss-
MARCH10-
-
-
-
3Gain-
MARCH11-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
3Gain-
MARCH7-
-
-
-
1Loss-
MARCH8-
-
-
-
1Loss-
MARCO-
-
-
-
1Loss-
MARS2-
-
-
-
1Loss-
MARVELD1-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MASP1-
-
-
-
3Gain-
MAST4-
-
-
-
1Loss-
MAT1A-
-
-
-
1Loss-
MATN2-
-
-
-
3Gain-
MATR3-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBD4-
-
-
-
3Gain-
MBD5-
-
-
-
1Loss-
MBL2-
-
-
-
1Loss-
MBLAC2-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBOAT1-
-
-
-
3Gain-
MBP-
-
-
-
3Gain-
MBTD1-
-
-
-
3Gain-
MC2R-
-
-
-
3Gain-
MC4R-
-
-
-
3Gain-
MC5R-
-
-
-
3Gain-
MCAT-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCCC2-
-
-
-
1Loss-
MCF2L2-
-
-
-
3Gain-
MCHR1-
-
-
-
1Loss-
MCIDAS-
-
-
-
3Gain-
MCM2-
-
-
-
3Gain-
MCM3-
-
-
-
3Gain-
MCM5-
-
-
-
1Loss-
MCM6-
-
-
-
1Loss-
MCMBP-
-
-
-
1Loss-
MCMDC2-
-
-
-
3Gain-
MCRIP1-
-
-
-
3Gain-
MCTP1-
-
-
-
1Loss-
MCU-
-
-
-
1Loss-
MCUB-
-
-
-
1Loss-
MCUR1-
-
-
-
3Gain-
MDH1B-
-
-
-
1Loss-
MDK-
-
-
-
1Loss-
ME2-
-
-
-
3Gain-
MECOM-
-
-
-
3Gain-
MED1-
-
-
-
3Gain-
MED10-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED12L-
-
-
-
3Gain-
MED13-
-
-
-
3Gain-
MED24-
-
-
-
3Gain-
MED28-
-
-
-
1Loss-
MED30-
-
-
-
3Gain-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED9-
-
-
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1Loss-
MEDAG-
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1Loss-
MEF2C-
-
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1Loss-
MEGF10-
-
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-
1Loss-
MEGF6-
-
-
-
7Amp-
MEI1-
-
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-
1Loss-
MEIOC-
-
-
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3Gain-
MELK-
-
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-
1Loss-
MELTF-
-
-
-
3Gain-
MEOX1-
-
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3Gain-
MEP1B-
-
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3Gain-
MEPE-
-
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1Loss-
MERTK-
-
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-
1Loss-
METAP1-
-
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-
1Loss-
METAP1D-
-
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-
1Loss-
METRNL-
-
-
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3Gain-
METTL14-
-
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-
1Loss-
METTL15-
-
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1Loss-
METTL16-
-
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1Loss-
METTL21A-
-
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1Loss-
METTL23-
-
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3Gain-
METTL2A-
-
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3Gain-
METTL4-
-
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3Gain-
METTL5-
-
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1Loss-
METTL6-
-
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-
1Loss-
METTL8-
-
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-
1Loss-
MEX3C-
-
-
-
3Gain-
MFAP3L-
-
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-
1Loss-
MFAP4-
-
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-
1Loss-
MFF-
-
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-
1Loss-
MFN1-
-
-
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3Gain-
MFNG-
-
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-
1Loss-
MFSD1-
-
-
-
3Gain-
MFSD10-
-
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-
1Loss-
MFSD11-
-
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3Gain-
MFSD13A-
-
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1Loss-
MFSD3-
-
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3Gain-
MFSD6-
-
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-
1Loss-
MFSD6L-
-
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-
1Loss-
MFSD8-
-
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1Loss-
MFSD9-
-
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1Loss-
MGARP-
-
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1Loss-
MGAT3-
-
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1Loss-
MGAT4A-
-
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1Loss-
MGAT4D-
-
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1Loss-
MGAT5-
-
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-
1Loss-
MGAT5B-
-
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3Gain-
MGLL-
-
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3Gain-
MGST2-
-
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1Loss-
MIB1-
-
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-
3Gain-
MIB2-
-
-
-
1Loss-
MICAL2-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICU1p.R301C
Missense
SNP
0.302
1Loss-
MID1-
-
-
-
NDNDAC073529.1--MID1
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIEN1-
-
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3Gain-
MIER3-
-
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3Gain-
MIF-
-
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1Loss-
MIF4GD-
-
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3Gain-
MILR1-
-
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3Gain-
MINDY4B-
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3Gain-
MINK1-
-
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1Loss-
MINPP1-
-
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1Loss-
MIOX-
-
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1Loss-
MIS12-
-
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1Loss-
MITD1-
-
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1Loss-
MITF-
-
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1Loss-
MKRN2-
-
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1Loss-
MKRN2OS-
-
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1Loss-
MKS1-
-
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3Gain-
MLC1-
-
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-
1Loss-
MLF1-
-
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3Gain-
MLH1-
-
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-
1Loss-
MLIP-
-
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3Gain-
MLLT6-
-
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3Gain-
MLNR-
-
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-
1Loss-
MLPH-
-
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-
1Loss-
MLX-
-
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3Gain-
MMAA-
-
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-
1Loss-
MMADHC-
-
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-
1Loss-
MMD-
-
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3Gain-
MME-
-
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3Gain-
MMEL1-
-
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-
1Loss-
MMP11-
-
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-
1Loss-
MMP16-
-
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-
3Gain-
MMP21-
-
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-
1Loss-
MMP23B-
-
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-
1Loss-
MMP26-
-
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-
1Loss-
MMP28-
-
-
-
3Gain-
MMRN1-
-
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-
1Loss-
MMRN2-
-
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-
1Loss-
MMS19-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MND1-
-
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-
1Loss-
MNT-
-
-
-
1Loss-
MOB1B-
-
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-
1Loss-
MOB2-
-
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-
1Loss-
MOB4-
-
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-
1Loss-
MOBP-
-
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-
1Loss-
MOCOS-
-
-
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3Gain-
MOCS2-
-
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-
3Gain-
MOGAT1-
-
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-
1Loss-
MON1A-
-
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-
1Loss-
MORC1-
-
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-
3Gain-
MORC2-
-
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-
1Loss-
MORN1-
-
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-
1Loss-
MORN4-
-
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-
1Loss-
MOV10L1-
-
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-
1Loss-
MPDU1-
-
-
-
1Loss-
MPO-
-
-
-
3Gain-
MPP2-
-
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-
3Gain-
MPP3-
-
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-
3Gain-
MPP4-
-
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-
1Loss-
MPPE1-
-
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-
3Gain-
MPPED1-
-
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-
1Loss-
MPPED2-
-
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-
1Loss-
MPRIP-
-
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-
1Loss-
MPST-
-
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-
1Loss-
MRAS-
-
-
-
3Gain-
MRC2-
-
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-
3Gain-
MREG-
-
-
-
1Loss-
MRFAP1-
-
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-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGPRE-
-
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-
1Loss-
MRGPRG-
-
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-
1Loss-
MRGPRX1-
-
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-
1Loss-
MRGPRX2-
-
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-
1Loss-
MRGPRX3-
-
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-
1Loss-
MRGPRX4-
-
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-
1Loss-
MRM1-
-
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-
3Gain-
MRM3-
-
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-
1Loss-
MRO-
-
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-
3Gain-
MROH1-
-
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3Gain-
MROH2A-
-
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-
1Loss-
MROH2B-
-
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-
3Gain-
MROH5-
-
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3Gain-
MROH6-
-
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3Gain-
MRPL1-
-
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-
1Loss-
MRPL10-
-
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-
3Gain-
MRPL12-
-
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3Gain-
MRPL13-
-
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3Gain-
MRPL17-
-
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-
1Loss-
MRPL20-
-
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-
1Loss-
MRPL23-
-
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-
1Loss-
MRPL27-
-
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-
3Gain-
MRPL3-
-
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3Gain-
MRPL30-
-
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-
1Loss-
MRPL36-
-
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-
3Gain-
MRPL38-
-
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-
3Gain-
MRPL43-
-
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-
1Loss-
MRPL44-
-
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-
1Loss-
MRPL45-
-
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-
3Gain-
MRPL47-
-
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-
3Gain-
MRPL58-
-
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-
3Gain-
MRPS16-
-
-
-
1Loss-
MRPS18C-
-
-
-
1Loss-
MRPS22-
-
-
-
3Gain-
MRPS23-
-
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-
3Gain-
MRPS25-
-
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-
1Loss-
MRPS27-
-
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-
1Loss-
MRPS28-
-
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-
3Gain-
MRPS30-
-
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-
3Gain-
MRPS31-
-
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-
1Loss-
MRPS36-
-
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-
1Loss-
MRPS5-
-
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-
1Loss-
MRPS7-
-
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-
3Gain-
MRPS9-
-
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-
1Loss-
MRS2-
-
-
-
3Gain-
MRTFA-
-
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-
1Loss-
MRVI1-
-
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-
1Loss-
MSANTD1-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSH3-
-
-
-
1Loss-
MSI2-
-
-
-
3Gain-
MSL1-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSMB-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSMP-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTN-
-
-
-
1Loss-
MSX1-
-
-
-
1Loss-
MTBP-
-
-
-
3Gain-
MTCH2-
-
-
-
1Loss-
MTCL1-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTERF4-
-
-
-
1Loss-
MTFP1-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTHFD2L-
-
-
-
1Loss-
MTMR12-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR3-
-
-
-
1Loss-
MTMR4-
-
-
-
3Gain-
MTNR1A-
-
-
-
1Loss-
MTREX-
-
-
-
3Gain-
MTRF1-
-
-
-
1Loss-
MTRR-
-
-
-
3Gain-
MTTP-
-
-
-
1Loss-
MTUS1-
-
-
-
3Gain-
MTUS2-
-
-
-
1Loss-
MTX2-
-
-
-
1Loss-
MTX3-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC15-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC20-
-
-
-
3Gain-
MUC4-
-
-
-
3Gain-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUC7-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MXRA7-
-
-
-
3Gain-
MXRA8-
-
-
-
1Loss-
MYADML2-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
3Gain-
MYBPC3-
-
-
-
1Loss-
MYC-
-
-
-
3Gain-
MYCBPAP-
-
-
-
3Gain-
MYD88-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH15-
-
-
-
3Gain-
MYH2p.A426S
Missense
SNP
1.000
NDND-
MYH6p.S118*
Nonsense
SNP
0.418
2--
MYH9-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL3-
-
-
-
1Loss-
MYL4-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYLIP-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYNN-
-
-
-
3Gain-
MYO10-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO15B-
-
-
-
3Gain-
MYO18Ap.R588H
Missense
SNP
0.614
3Gain-
MYO18B-
-
-
-
1Loss-
MYO19-
-
-
-
3Gain-
MYO1B-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1D-
-
-
-
3Gain-
MYO3B-
-
-
-
1Loss-
MYO5B-
-
-
-
3Gain-
MYO7B-
-
-
-
1Loss-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM1-
-
-
-
3Gain-
MYORG-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
MZT2A-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAA80-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NAB1-
-
-
-
1Loss-
NABP1-
-
-
-
1Loss-
NACA2-
-
-
-
3Gain-
NADK-
-
-
-
1Loss-
NADK2-
-
-
-
3Gain-
NAF1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NAGLU-
-
-
-
3Gain-
NAGS-
-
-
-
3Gain-
NAIP-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPG-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NARF-
-
-
-
3Gain-
NARS-
-
-
-
3Gain-
NAT10-
-
-
-
1Loss-
NAT8L-
-
-
-
1Loss-
NAT9-
-
-
-
3Gain-
NATD1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBEAL1-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBN-
-
-
-
3Gain-
NBR1-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAPG-
-
-
-
1Loss-
NCAPH-
-
-
-
1Loss-
NCAPH2-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCEH1-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCK1-
-
-
-
3Gain-
NCK2-
-
-
-
1Loss-
NCKAP1-
-
-
-
1Loss-
NCKAP5-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
1Loss-
NCOA2-
-
-
-
3Gain-
NCOA4-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NDC80-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDNF-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDST1-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA6-
-
-
-
1Loss-
NDUFAF2-
-
-
-
5Amp-
NDUFAF3-
-
-
-
1Loss-
NDUFAF6-
-
-
-
3Gain-
NDUFAF8-
-
-
-
3Gain-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFC1-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NDUFS3-
-
-
-
1Loss-
NDUFS4-
-
-
-
3Gain-
NDUFS6-
-
-
-
3Gain-
NDUFV2-
-
-
-
3Gain-
NEB-
-
-
-
1Loss-
NECAB1-
-
-
-
3Gain-
NECTIN3-
-
-
-
3Gain-
NEDD4L-
-
-
-
3Gain-
NEDD9-
-
-
-
3Gain-
NEFH-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK11-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK8-
-
-
-
3Gain-
NELFA-
-
-
-
1Loss-
NELL1-
-
-
-
1Loss-
NEMP2-
-
-
-
1Loss-
NEPRO-
-
-
-
3Gain-
NETO1-
-
-
-
3Gain-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NEURL3-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NEUROD1-
-
-
-
1Loss-
NEUROD2-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NEUROG2-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NF1-
-
-
-
3Gain-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFATC1-
-
-
-
3Gain-
NFE2L1-
-
-
-
3Gain-
NFE2L2-
-
-
-
1Loss-
NFKB1-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIZ-
-
-
-
3Gain-
NFX1-
-
-
-
1Loss-
NFXL1-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGFR-
-
-
-
3Gain-
NGLY1-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLRC1-
-
-
-
3Gain-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NIF3L1-
-
-
-
1Loss-
NIFK-
-
-
-
1Loss-
NIM1K-
-
-
-
3Gain-
NIPAL1-
-
-
-
1Loss-
NIPAL2-
-
-
-
3Gain-
NIPBL-
-
-
-
3Gain-
NIPSNAP1-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NIT2-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKD2-
-
-
-
3Gain-
NKIRAS1-
-
-
-
1Loss-
NKIRAS2-
-
-
-
3Gain-
NKTR-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NLE1-
-
-
-
3Gain-
NLGN1-
-
-
-
3Gain-
NLGN2-
-
-
-
1Loss-
NLK-
-
-
-
3Gain-
NLN-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME1-
-
-
-
3Gain-
NME1-NME2-
-
-
-
3Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME9-
-
-
-
3Gain-
NMI-
-
-
-
1Loss-
NMNAT3-
-
-
-
3Gain-
NMS-
-
-
-
1Loss-
NMT1-
-
-
-
3Gain-
NMU-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
1Loss-
NOC2L-
-
-
-
1Loss-
NOC3L-
-
-
-
1Loss-
NOCT-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL12-
-
-
-
1Loss-
NOL4-
-
-
-
3Gain-
NOL6-
-
-
-
1Loss-
NOL7-
-
-
-
3Gain-
NOLC1-
-
-
-
1Loss-
NOP14-
-
-
-
1Loss-
NOP58-
-
-
-
1Loss-
NOS2-
-
-
-
3Gain-
NOSTRIN-
-
-
-
1Loss-
NOTUM-
-
-
-
3Gain-
NOV-
-
-
-
3Gain-
NPAS2-
-
-
-
1Loss-
NPB-
-
-
-
3Gain-
NPC1-
-
-
-
3Gain-
NPEPPS-
-
-
-
3Gain-
NPFFR1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPHP1-
-
-
-
1Loss-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPLOC4-
-
-
-
3Gain-
NPM3-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NPR3-
-
-
-
3Gain-
NPRL2-
-
-
-
1Loss-
NPTX1-
-
-
-
3Gain-
NPTXR-
-
-
-
1Loss-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NR1D1-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR3C2-
-
-
-
1Loss-
NR4A2-
-
-
-
1Loss-
NRAP-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRBP2-
-
-
-
3Gain-
NREP-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRG3-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRSN1-
-
-
-
3Gain-
NSA2-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSF-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSRP1-
-
-
-
3Gain-
NSUN2-
-
-
-
3Gain-
NSUN3-
-
-
-
3Gain-
NSUN7-
-
-
-
1Loss-
NT5C-
-
-
-
3Gain-
NT5C2-
-
-
-
1Loss-
NT5C3B-
-
-
-
3Gain-
NT5DC2-
-
-
-
1Loss-
NT5DC4-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTRK1p.P727H
Missense
SNP
0.465
2--
NTSR1p.V355I
Missense
SNP
0.513
2--
NUCB2-
-
-
-
1Loss-
NUDCD1-
-
-
-
3Gain-
NUDT12-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
3Gain-
NUDT2-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUFIP2-
-
-
-
3Gain-
NUP153-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP160-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP35-
-
-
-
1Loss-
NUP50-
-
-
-
1Loss-
NUP54-
-
-
-
1Loss-
NUP85-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUTM2Fp.D558G
Missense
SNP
0.438
2--
NWD2-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NXPH2-
-
-
-
1Loss-
NXPH3-
-
-
-
3Gain-
NYAP2-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OBSL1-
-
-
-
1Loss-
OC90-
-
-
-
3Gain-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF1-
-
-
-
3Gain-
ODF3-
-
-
-
1Loss-
ODF3B-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OGFOD3-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLA1-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OMG-
-
-
-
3Gain-
ONECUT2-
-
-
-
3Gain-
OPA1-
-
-
-
3Gain-
OPALIN-
-
-
-
1Loss-
OPLAH-
-
-
-
3Gain-
OPN4-
-
-
-
1Loss-
OPRPN-
-
-
-
1Loss-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR13A1-
-
-
-
1Loss-
OR13J1-
-
-
-
1Loss-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2L2p.R226H
Missense
SNP
0.500
2--
OR2S2-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3p.R238H
Missense
SNP
1.000
1Loss-
OR4A47-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C11p.H174D
Missense
SNP
0.509
2--
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4D1-
-
-
-
3Gain-
OR4D2-
-
-
-
3Gain-
OR4F5-
-
-
-
1Loss-
OR4S1-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5AC2-
-
-
-
3Gain-
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR8H1p.C240F
Missense
SNP
0.489
2--
ORC2-
-
-
-
1Loss-
ORC4-
-
-
-
1Loss-
ORMDL1-
-
-
-
1Loss-
ORMDL3-
-
-
-
3Gain-
OSBP2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSBPL6-
-
-
-
1Loss-
OSBPL7-
-
-
-
3Gain-
OSGEPL1-
-
-
-
1Loss-
OSGIN2-
-
-
-
3Gain-
OSM-
-
-
-
1Loss-
OSMR-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OSTC-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOGp.M1935T
Missense
SNP
1.000
1Loss-
OTOL1-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTOS-
-
-
-
1Loss-
OTP-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD6B-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXLD1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
3Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
P3H4-
-
-
-
3Gain-
P4HA1-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HB-
-
-
-
3Gain-
P4HTM-
-
-
-
1Loss-
PABPC1-
-
-
-
3Gain-
PACRGL-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAG1-
-
-
-
3Gain-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAK1IP1-
-
-
-
3Gain-
PAK2-
-
-
-
3Gain-
PALD1-
-
-
-
1Loss-
PALLD-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK4-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PAPSS1-
-
-
-
1Loss-
PAPSS2-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR8-
-
-
-
3Gain-
PAQR9-
-
-
-
3Gain-
PARD3B-
-
-
-
1Loss-
PARD6G-
-
-
-
3Gain-
PARG-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARM1-
-
-
-
1Loss-
PARP10-
-
-
-
3Gain-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP3-
-
-
-
1Loss-
PARP8-
-
-
-
3Gain-
PARP9-
-
-
-
3Gain-
PARVA-
-
-
-
1Loss-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX3-
-
-
-
1Loss-
PAX5-
-
-
-
1Loss-
PAX6-
-
-
-
1Loss-
PAX8-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PCBD1-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCGF2-
-
-
-
3Gain-
PCGF3-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCLOp.D4431N
Missense
SNP
0.453
2--
PCM1-
-
-
-
3Gain-
PCNP-
-
-
-
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCTP-
-
-
-
3Gain-
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
3Gain-
PCYT2-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD10-
-
-
-
3Gain-
PDCD11-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDCL2-
-
-
-
1Loss-
PDCL3-
-
-
-
1Loss-
PDE11A-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE1A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4D-
-
-
-
3Gain-
PDE5A-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE6G-
-
-
-
3Gain-
PDE7A-
-
-
-
3Gain-
PDE8B-
-
-
-
1Loss-
PDGFB-
-
-
-
1Loss-
PDGFC-
-
-
-
1Loss-
PDGFRA-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
3Gain-
PDHA2-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDK1-
-
-
-
1Loss-
PDK2-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDS5A-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDX1-
-
-
-
3Gain-
PDXP-
-
-
-
1Loss-
PDZD2-
-
-
-
3Gain-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PECAM1-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PELO-
-
-
-
3Gain-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PES1-
-
-
-
1Loss-
PEX10-
-
-
-
1Loss-
PEX12-
-
-
-
3Gain-
PEX16-
-
-
-
1Loss-
PEX2-
-
-
-
3Gain-
PEX5L-
-
-
-
3Gain-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PGAM1-
-
-
-
1Loss-
PGAP1-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGAP3-
-
-
-
3Gain-
PGGHG-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGM2-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PGS1-
-
-
-
3Gain-
PHACTR1-
-
-
-
3Gain-
PHAX-
-
-
-
1Loss-
PHB-
-
-
-
3Gain-
PHC3-
-
-
-
3Gain-
PHETA2-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF12-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF21A-
-
-
-
1Loss-
PHF21B-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHF5A-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDB2-
-
-
-
3Gain-
PHLPP1-
-
-
-
3Gain-
PHOSPHO1-
-
-
-
3Gain-
PHOSPHO2-
-
-
-
1Loss-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI4K2A-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PIAS2-
-
-
-
3Gain-
PIBF1-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO2-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGN-
-
-
-
3Gain-
PIGO-
-
-
-
1Loss-
PIGS-
-
-
-
3Gain-
PIGW-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
3Gain-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3C3-
-
-
-
3Gain-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PIK3R4-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIKFYVE-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIP4K2B-
-
-
-
3Gain-
PIP4P2-
-
-
-
3Gain-
PIPOX-
-
-
-
3Gain-
PISD-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNC1-
-
-
-
3Gain-
PITPNM3-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PJVK-
-
-
-
1Loss-
PKD2p.R638C
Missense
SNP
0.594
1Loss-
PKD2L1-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1-
-
-
-
3Gain-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKP3-
-
-
-
1Loss-
PKP4-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2G12A-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLA2R1-
-
-
-
1Loss-
PLAC8-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAC9-
-
-
-
1Loss-
PLAU-
-
-
-
1Loss-
PLCB1-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCD1-
-
-
-
1Loss-
PLCD3-
-
-
-
3Gain-
PLCD4-
-
-
-
1Loss-
PLCE1-
-
-
-
1Loss-
PLCH1-
-
-
-
3Gain-
PLCH2-
-
-
-
1Loss-
PLCL1-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLD2-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEKHA1-
-
-
-
1Loss-
PLEKHA3-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHB2-
-
-
-
1Loss-
PLEKHF2-
-
-
-
3Gain-
PLEKHG4B-
-
-
-
3Gain-
PLEKHH3-
-
-
-
3Gain-
PLEKHM1-
-
-
-
3Gain-
PLEKHM3-
-
-
-
1Loss-
PLEKHN1-
-
-
-
1Loss-
PLEKHS1-
-
-
-
1Loss-
PLK2-
-
-
-
3Gain-
PLK4-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLPP1-
-
-
-
3Gain-
PLPP4-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXDC1-
-
-
-
3Gain-
PLXNA1-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXNB2-
-
-
-
1Loss-
PLXND1-
-
-
-
3Gain-
PMAIP1-
-
-
-
3Gain-
PMM1-
-
-
-
1Loss-
PMP2-
-
-
-
3Gain-
PMS1-
-
-
-
1Loss-
PNKD-
-
-
-
1Loss-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMT-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPO-
-
-
-
3Gain-
POC1A-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLDIP2-
-
-
-
3Gain-
POLDIP3-
-
-
-
1Loss-
POLG2-
-
-
-
3Gain-
POLI-
-
-
-
3Gain-
POLK-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLN-
-
-
-
1Loss-
POLQ-
-
-
-
3Gain-
POLR1B-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2D-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2Gp.X5_splice
Splice_Site
SNP
0.473
2--
POLR2H-
-
-
-
3Gain-
POLR2K-
-
-
-
3Gain-
POLR2L-
-
-
-
1Loss-
POLR3A-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POLR3H-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMP-
-
-
-
1Loss-
POMZP3-
-
-
-
1Loss-
POP1-
-
-
-
3Gain-
POPDC2-
-
-
-
3Gain-
POSTN-
-
-
-
1Loss-
POTEC-
-
-
-
3Gain-
POU1F1-
-
-
-
1Loss-
POU3F3-
-
-
-
1Loss-
POU4F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F1B-
-
-
-
3Gain-
POU5F2-
-
-
-
1Loss-
PP2D1-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPARGC1A-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPEF2-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPID-
-
-
-
1Loss-
PPIF-
-
-
-
1Loss-
PPIG-
-
-
-
1Loss-
PPIL3-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPM1D-
-
-
-
3Gain-
PPM1E-
-
-
-
3Gain-
PPM1F-
-
-
-
1Loss-
PPM1K-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPM1M-
-
-
-
1Loss-
PPP1R16A-
-
-
-
3Gain-
PPP1R1B-
-
-
-
3Gain-
PPP1R1C-
-
-
-
1Loss-
PPP1R2-
-
-
-
3Gain-
PPP1R27-
-
-
-
3Gain-
PPP1R3C-
-
-
-
1Loss-
PPP1R42-
-
-
-
3Gain-
PPP1R7-
-
-
-
1Loss-
PPP1R9B-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP3CA-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP4R1-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PPY-
-
-
-
3Gain-
PQLC1-
-
-
-
3Gain-
PQLC2L-
-
-
-
3Gain-
PRAC1-
-
-
-
3Gain-
PRAC2-
-
-
-
3Gain-
PRAME-
-
-
-
1Loss-
PRCD-
-
-
-
3Gain-
PRDM11-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDM16-
-
-
-
1Loss-
PRDM5-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PRELID3A-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRF1-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRIM2-
-
-
-
3Gain-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKAG3-
-
-
-
1Loss-
PRKAR1A-
-
-
-
3Gain-
PRKAR2A-
-
-
-
1Loss-
PRKCA-
-
-
-
3Gain-
PRKCD-
-
-
-
1Loss-
PRKCI-
-
-
-
3Gain-
PRKCZ-
-
-
-
1Loss-
PRKDCp.D3689Y
Missense
SNP
0.367
2--
PRKG1-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKRA-
-
-
-
1Loss-
PRL-
-
-
-
3Gain-
PRLH-
-
-
-
1Loss-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRMT3-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PROC-
-
-
-
1Loss-
PROCA1-
-
-
-
3Gain-
PROK2-
-
-
-
1Loss-
PROM1-
-
-
-
1Loss-
PROM2-
-
-
-
1Loss-
PROS1-
-
-
-
3Gain-
PROSER1-
-
-
-
1Loss-
PRPF40A-
-
-
-
1Loss-
PRPF6p.R450L
Missense
SNP
0.480
2--
PRPF8-
-
-
-
1Loss-
PRPSAP1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR11-
-
-
-
3Gain-
PRR14L-
-
-
-
1Loss-
PRR15L-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR29-
-
-
-
3Gain-
PRR33-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRG4-
-
-
-
1Loss-
PRRT3-
-
-
-
1Loss-
PRSS12-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PRXL2B-
-
-
-
1Loss-
PSAP-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSD-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSD4-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4p.K387N
Missense
SNP
0.440
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA1-
-
-
-
1Loss-
PSMA8-
-
-
-
3Gain-
PSMB3-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMC3IP-
-
-
-
3Gain-
PSMC5-
-
-
-
3Gain-
PSMD1-
-
-
-
1Loss-
PSMD11-
-
-
-
3Gain-
PSMD12-
-
-
-
3Gain-
PSMD13-
-
-
-
1Loss-
PSMD14-
-
-
-
1Loss-
PSMD2-
-
-
-
3Gain-
PSMD3-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSME3-
-
-
-
3Gain-
PSMG2-
-
-
-
3Gain-
PSTK-
-
-
-
1Loss-
PSTPIP2-
-
-
-
3Gain-
PTCD2-
-
-
-
1Loss-
PTDSS1-
-
-
-
3Gain-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGES3L-
-
-
-
3Gain-
PTGES3L-AARSD1-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTMA-
-
-
-
1Loss-
PTP4A3-
-
-
-
3Gain-
PTPMT1-
-
-
-
1Loss-
PTPN13-
-
-
-
1Loss-
PTPN18-
-
-
-
1Loss-
PTPN2-
-
-
-
3Gain-
PTPN20-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN4-
-
-
-
1Loss-
PTPN5-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRM-
-
-
-
3Gain-
PTPRN-
-
-
-
1Loss-
PTRH2-
-
-
-
3Gain-
PTTG2-
-
-
-
1Loss-
PTX3-
-
-
-
3Gain-
PUF60-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PUSL1-
-
-
-
1Loss-
PVALB-
-
-
-
1Loss-
PVALEF-
-
-
-
3Gain-
PXDNLp.G1212V
Missense
SNP
0.371
2--
PXK-
-
-
-
1Loss-
PXYLP1-
-
-
-
3Gain-
PYCR1-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYROXD2-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
PYY-
-
-
-
3Gain-
QARS-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QRICH2-
-
-
-
3Gain-
QSER1-
-
-
-
1Loss-
QTRT2-
-
-
-
3Gain-
R3HCC1L-
-
-
-
1Loss-
R3HDM1-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP4-
-
-
-
3Gain-
RAB12-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB23-
-
-
-
3Gain-
RAB27B-
-
-
-
3Gain-
RAB28-
-
-
-
1Loss-
RAB2A-
-
-
-
3Gain-
RAB31-
-
-
-
3Gain-
RAB33B-
-
-
-
1Loss-
RAB34-
-
-
-
3Gain-
RAB36-
-
-
-
1Loss-
RAB37-
-
-
-
3Gain-
RAB3C-
-
-
-
3Gain-
RAB3GAP1-
-
-
-
1Loss-
RAB40B-
-
-
-
3Gain-
RAB43-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB5C-
-
-
-
3Gain-
RAB6B-
-
-
-
3Gain-
RAB6C-
-
-
-
1Loss-
RAB6D-
-
-
-
1Loss-
RAB7A-
-
-
-
3Gain-
RABEP1-
-
-
-
1Loss-
RABL2A-
-
-
-
1Loss-
RABL2B-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RAC2-
-
-
-
1Loss-
RAC3-
-
-
-
3Gain-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51C-
-
-
-
3Gain-
RAD51D-
-
-
-
3Gain-
RAD51L3-RFFL-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RAD54L2-
-
-
-
1Loss-
RAF1-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RALB-
-
-
-
1Loss-
RALBP1-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMP1-
-
-
-
1Loss-
RAMP2-
-
-
-
3Gain-
RANBP2-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RANBP9-
-
-
-
3Gain-
RANGAP1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF2-
-
-
-
1Loss-
RAPGEF4-
-
-
-
1Loss-
RAPGEF6-
-
-
-
1Loss-
RAPGEFL1-
-
-
-
3Gain-
RAPH1-
-
-
-
1Loss-
RAPSN-
-
-
-
1Loss-
RARA-
-
-
-
3Gain-
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RASA1-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASL10B-
-
-
-
3Gain-
RASL11B-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF6-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RAX-
-
-
-
3Gain-
RB1-
-
-
-
1Loss-
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
3Gain-
RBFOX2-
-
-
-
1Loss-
RBFOX3-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM20-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM24-
-
-
-
3Gain-
RBM27-
-
-
-
1Loss-
RBM43-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM45-
-
-
-
1Loss-
RBM46-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS1-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
RDM1-
-
-
-
3Gain-
RECK-
-
-
-
1Loss-
RECQL4-
-
-
-
3Gain-
RECQL5-
-
-
-
3Gain-
REELD1-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
RELCH-
-
-
-
3Gain-
RELL1-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RER1-
-
-
-
1Loss-
RESP18-
-
-
-
1Loss-
REST-
-
-
-
1Loss-
RET-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
RETREG1-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
RETREG3-
-
-
-
3Gain-
REV1-
-
-
-
1Loss-
RFC1-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFESD-
-
-
-
1Loss-
RFFL-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFNG-
-
-
-
3Gain-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFTN2-
-
-
-
1Loss-
RFX8-
-
-
-
1Loss-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGL4-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGPD3-
-
-
-
1Loss-
RGPD4-
-
-
-
1Loss-
RGPD5-
-
-
-
1Loss-
RGPD6-
-
-
-
1Loss-
RGPD8-
-
-
-
1Loss-
RGR-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS22-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS9-
-
-
-
3Gain-
RHBDD1-
-
-
-
1Loss-
RHBDD3-
-
-
-
1Loss-
RHBDF2-
-
-
-
3Gain-
RHBDL3-
-
-
-
3Gain-
RHO-
-
-
-
3Gain-
RHOA-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOBTB3-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOT1-
-
-
-
3Gain-
RHPN1-
-
-
-
3Gain-
RIBC2-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RICTOR-
-
-
-
3Gain-
RIDA-
-
-
-
3Gain-
RIF1-
-
-
-
1Loss-
RILP-
-
-
-
1Loss-
RIMS2-
-
-
-
3Gain-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPOR2-
-
-
-
3Gain-
RIT2-
-
-
-
3Gain-
RMC1-
-
-
-
3Gain-
RMDN1-
-
-
-
3Gain-
RN7SL1-
-
-
-
NDNDHIST2H2AC--RN7SL1
RNASEH2B-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RND2-
-
-
-
3Gain-
RND3-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
3Gain-
RNF13-
-
-
-
3Gain-
RNF135-
-
-
-
3Gain-
RNF138-
-
-
-
3Gain-
RNF14-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF144B-
-
-
-
3Gain-
RNF149-
-
-
-
1Loss-
RNF150-
-
-
-
1Loss-
RNF152-
-
-
-
3Gain-
RNF157-
-
-
-
3Gain-
RNF165-
-
-
-
3Gain-
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF175-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF182-
-
-
-
3Gain-
RNF185-
-
-
-
1Loss-
RNF19A-
-
-
-
3Gain-
RNF212-
-
-
-
1Loss-
RNF213-
-
-
-
3Gain-
RNF215-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF43-
-
-
-
3Gain-
RNF7-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNH1-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
RNMT-
-
-
-
3Gain-
RNPEPL1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROPN1L-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPE-
-
-
-
1Loss-
RPEL1-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPIA-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL19-
-
-
-
3Gain-
RPL22L1-
-
-
-
3Gain-
RPL23-
-
-
-
3Gain-
RPL23A-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL27-
-
-
-
3Gain-
RPL27A-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL30-
-
-
-
3Gain-
RPL31-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL37-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPL38-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPL9-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPN1-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPP30-
-
-
-
1Loss-
RPRD1A-
-
-
-
3Gain-
RPRM-
-
-
-
1Loss-
RPRML-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS3A-
-
-
-
1Loss-
RPS6KB1-
-
-
-
3Gain-
RPSA-
-
-
-
1Loss-
RPTOR-
-
-
-
3Gain-
RPUSD3-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRH-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRM2B-
-
-
-
3Gain-
RRP12-
-
-
-
1Loss-
RRP7A-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
3Gain-
RSAD1-
-
-
-
3Gain-
RSPH14-
-
-
-
1Loss-
RSPO2-
-
-
-
3Gain-
RSRC1-
-
-
-
3Gain-
RTCB-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTL1p.R825H
Missense
SNP
0.539
2--
RTL6-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
3Gain-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RUNDC1-
-
-
-
3Gain-
RUNDC3A-
-
-
-
3Gain-
RUNX1T1-
-
-
-
3Gain-
RUSC2-
-
-
-
1Loss-
RUVBL1-
-
-
-
3Gain-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RXFP3-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
3Gain-
RYR3p.R2321S
Missense
SNP
0.589
2--
S100P-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SALL3-
-
-
-
3Gain-
SAMD11-
-
-
-
1Loss-
SAMD12-
-
-
-
3Gain-
SAMD14-
-
-
-
3Gain-
SAMD7-
-
-
-
3Gain-
SAMD8-
-
-
-
1Loss-
SAMM50-
-
-
-
1Loss-
SAP130-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SAP30BP-
-
-
-
3Gain-
SAR1A-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARM1-
-
-
-
3Gain-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBSPON-
-
-
-
3Gain-
SCAMP1-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCFD2-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCGN-
-
-
-
3Gain-
SCHIP1-
-
-
-
3Gain-
SCIMP-
-
-
-
1Loss-
SCLT1-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1A-
-
-
-
1Loss-
SCN2A-
-
-
-
1Loss-
SCN3A-
-
-
-
1Loss-
SCN4A-
-
-
-
3Gain-
SCN5A-
-
-
-
1Loss-
SCN7A-
-
-
-
1Loss-
SCN9A-
-
-
-
1Loss-
SCNN1D-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCOC-
-
-
-
1Loss-
SCPEP1-
-
-
-
3Gain-
SCRG1-
-
-
-
1Loss-
SCRIB-
-
-
-
3Gain-
SCRN2-
-
-
-
3Gain-
SCRN3-
-
-
-
1Loss-
SCRT1-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCTR-
-
-
-
1Loss-
SCUBE1-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCX-
-
-
-
3Gain-
SDAD1-
-
-
-
1Loss-
SDC2-
-
-
-
3Gain-
SDF2-
-
-
-
3Gain-
SDF4-
-
-
-
1Loss-
SDHA-
-
-
-
3Gain-
SDK2p.R624H
Missense
SNP
0.549
3Gain-
SEBOX-
-
-
-
3Gain-
SEC11C-
-
-
-
3Gain-
SEC13-
-
-
-
1Loss-
SEC14L1-
-
-
-
3Gain-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC16Ap.R2070H
Missense
SNP
1.000
2--
SEC22A-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SEC23IP-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC24B-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SECTM1-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SEL1L3-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENOM-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELENOP-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4C-
-
-
-
1Loss-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
3Gain-
SEMA5B-
-
-
-
3Gain-
SEMA6A-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
3Gain-
SENP7-
-
-
-
3Gain-
SEPSECS-
-
-
-
1Loss-
SEPT10-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT2-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SEPT9-
-
-
-
3Gain-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERP2-
-
-
-
1Loss-
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12-
-
-
-
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTM1-
-
-
-
1Loss-
SESTD1-
-
-
-
1Loss-
SETBP1-
-
-
-
3Gain-
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETD9-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6-
-
-
-
3Gain-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3B1-
-
-
-
1Loss-
SFI1-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP2-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFT2D3-
-
-
-
1Loss-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCA-
-
-
-
3Gain-
SGCB-
-
-
-
1Loss-
SGK3-
-
-
-
3Gain-
SGK494-
-
-
-
3Gain-
SGMS1-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSH-
-
-
-
3Gain-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2D4B-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3D19-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3RF3-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHB-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SIp.S928I
Missense
SNP
0.475
3Gain-
SIAH2-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
3Gain-
SIGIRR-
-
-
-
1Loss-
SIGLEC15-
-
-
-
3Gain-
SIGMAR1-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT5-
-
-
-
3Gain-
SIRT7-
-
-
-
3Gain-
SIT1-
-
-
-
1Loss-
SKA1-
-
-
-
3Gain-
SKA2-
-
-
-
3Gain-
SKAP1-
-
-
-
3Gain-
SKI-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SKOR2-
-
-
-
3Gain-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLA-
-
-
-
3Gain-
SLAIN2-
-
-
-
1Loss-
SLBP-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A5-
-
-
-
3Gain-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A7-
-
-
-
3Gain-
SLC12A8-
-
-
-
3Gain-
SLC13A2-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC15A2-
-
-
-
3Gain-
SLC16A11-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A3-
-
-
-
3Gain-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC16A8-
-
-
-
1Loss-
SLC16A9-
-
-
-
1Loss-
SLC17A1-
-
-
-
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A6-
-
-
-
1Loss-
SLC17A9p.T104M
Missense
SNP
0.463
2--
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC19A3-
-
-
-
1Loss-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
3Gain-
SLC20A1-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC25A10-
-
-
-
3Gain-
SLC25A11-
-
-
-
1Loss-
SLC25A12-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A16-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A19-
-
-
-
3Gain-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A31-
-
-
-
1Loss-
SLC25A32-
-
-
-
3Gain-
SLC25A35-
-
-
-
1Loss-
SLC25A36-
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-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUFU-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULF1-
-
-
-
3Gain-
SULT1B1-
-
-
-
0Del-
SULT1C2-
-
-
-
1Loss-
SULT1C3-
-
-
-
1Loss-
SULT1C4-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT4A1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMO1-
-
-
-
1Loss-
SUMO2-
-
-
-
3Gain-
SUN2-
-
-
-
1Loss-
SUPT20H-
-
-
-
1Loss-
SUPT4H1-
-
-
-
3Gain-
SUPT6H-
-
-
-
3Gain-
SUPV3L1-
-
-
-
1Loss-
SUSD2-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SUZ12-
-
-
-
3Gain-
SV2C-
-
-
-
1Loss-
SVIP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SYBU-
-
-
-
3Gain-
SYCE3-
-
-
-
1Loss-
SYCP2L-
-
-
-
3Gain-
SYN2-
-
-
-
1Loss-
SYN3-
-
-
-
1Loss-
SYNE3p.G602R
Missense
SNP
0.483
2--
SYNGAP1p.E310*
Nonsense
SNP
0.361
2--
SYNGR1-
-
-
-
1Loss-
SYNGR2-
-
-
-
3Gain-
SYNPO-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPO2L-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYNRG-
-
-
-
3Gain-
SYT13-
-
-
-
1Loss-
SYT15-
-
-
-
1Loss-
SYT4-
-
-
-
3Gain-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
TAB1-
-
-
-
1Loss-
TAC4-
-
-
-
3Gain-
TACC2-
-
-
-
1Loss-
TACC3-
-
-
-
1Loss-
TACO1-
-
-
-
3Gain-
TACR2-
-
-
-
1Loss-
TACR3-
-
-
-
1Loss-
TADA2A-
-
-
-
3Gain-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF15-
-
-
-
3Gain-
TAF1L-
-
-
-
1Loss-
TAF2-
-
-
-
3Gain-
TAF4B-
-
-
-
3Gain-
TAF5-
-
-
-
1Loss-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN3-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TANC1-
-
-
-
1Loss-
TANC2-
-
-
-
3Gain-
TANK-
-
-
-
1Loss-
TAOK1-
-
-
-
3Gain-
TAPT1-
-
-
-
1Loss-
TARS-
-
-
-
3Gain-
TAS1R3-
-
-
-
1Loss-
TAS2R1-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D14p.H487Y
Missense
SNP
0.347
1Loss-
TBC1D16-
-
-
-
3Gain-
TBC1D19-
-
-
-
1Loss-
TBC1D22A-
-
-
-
1Loss-
TBC1D23-
-
-
-
3Gain-
TBC1D28-
-
-
-
1Loss-
TBC1D29-
-
-
-
3Gain-
TBC1D31-
-
-
-
3Gain-
TBC1D5-
-
-
-
1Loss-
TBC1D7-
-
-
-
3Gain-
TBC1D8-
-
-
-
1Loss-
TBC1D9-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBCD-
-
-
-
3Gain-
TBCK-
-
-
-
1Loss-
TBKBP1-
-
-
-
3Gain-
TBL1XR1-
-
-
-
3Gain-
TBR1-
-
-
-
1Loss-
TBX2-
-
-
-
3Gain-
TBX21-
-
-
-
3Gain-
TBX4-
-
-
-
3Gain-
TCAIM-
-
-
-
1Loss-
TCAP-
-
-
-
3Gain-
TCERG1-
-
-
-
1Loss-
TCF20-
-
-
-
1Loss-
TCF24-
-
-
-
3Gain-
TCF4-
-
-
-
3Gain-
TCF7-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP11L1-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TCTN3-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDP2-
-
-
-
3Gain-
TDRD1-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TEAD1-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TECRL-
-
-
-
1Loss-
TECTB-
-
-
-
1Loss-
TEF-
-
-
-
1Loss-
TEFM-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT4-
-
-
-
1Loss-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
3Gain-
TEPSIN-
-
-
-
3Gain-
TERF1-
-
-
-
3Gain-
TERT-
-
-
-
3Gain-
TESK1-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TET2-
-
-
-
1Loss-
TEX14-
-
-
-
3Gain-
TEX19-
-
-
-
3Gain-
TEX2-
-
-
-
3Gain-
TEX26-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX37-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX51-
-
-
-
1Loss-
TF-
-
-
-
3Gain-
TFAM-
-
-
-
1Loss-
TFAP2A-
-
-
-
3Gain-
TFCP2L1-
-
-
-
1Loss-
TFDP2-
-
-
-
3Gain-
TFG-
-
-
-
3Gain-
TFIP11-
-
-
-
1Loss-
TFPI-
-
-
-
1Loss-
TFRC-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGFBI-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGFBRAP1-
-
-
-
1Loss-
TGIF1-
-
-
-
3Gain-
TGM4-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THAP6-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBDp.R567Q
p.R101P
Missense
Missense
SNP
SNP
0.548
0.568
2--
THBS4-
-
-
-
1Loss-
THEGL-
-
-
-
1Loss-
THEM6-
-
-
-
3Gain-
THNSL2-
-
-
-
1Loss-
THOC1-
-
-
-
3Gain-
THOC5-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRA-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THSD7B-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIAF1-
-
-
-
3Gain-
TIAL1-
-
-
-
1Loss-
TIFA-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIGD6-
-
-
-
1Loss-
TIGIT-
-
-
-
3Gain-
TIMM10B-
-
-
-
1Loss-
TIMM21-
-
-
-
3Gain-
TIMM22-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIMP2-
-
-
-
3Gain-
TIMP3-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TINAG-
-
-
-
3Gain-
TIPARP-
-
-
-
3Gain-
TK1-
-
-
-
3Gain-
TKT-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLCD1-
-
-
-
3Gain-
TLCD2-
-
-
-
1Loss-
TLK1-
-
-
-
1Loss-
TLK2-
-
-
-
3Gain-
TLL1-
-
-
-
1Loss-
TLL2-
-
-
-
1Loss-
TLN1-
-
-
-
1Loss-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR6-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF20-
-
-
-
1Loss-
TM4SF4-
-
-
-
3Gain-
TM4SF5-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TMA16-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMC6-
-
-
-
3Gain-
TMC8-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMCO6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMEFF2-
-
-
-
1Loss-
TMEM100-
-
-
-
3Gain-
TMEM101-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM104-
-
-
-
3Gain-
TMEM105-
-
-
-
3Gain-
TMEM106A-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM108-
-
-
-
3Gain-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM127-
-
-
-
1Loss-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM131-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM132E-
-
-
-
3Gain-
TMEM144-
-
-
-
1Loss-
TMEM14A-
-
-
-
3Gain-
TMEM14B-
-
-
-
3Gain-
TMEM14C-
-
-
-
3Gain-
TMEM150C-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM156-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM163-
-
-
-
1Loss-
TMEM165-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM170B-
-
-
-
3Gain-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM177-
-
-
-
1Loss-
TMEM182-
-
-
-
1Loss-
TMEM184Ap.D103N
Missense
SNP
0.527
2--
TMEM184B-
-
-
-
1Loss-
TMEM184C-
-
-
-
1Loss-
TMEM185B-
-
-
-
1Loss-
TMEM192-
-
-
-
1Loss-
TMEM196p.P102T
Missense
SNP
0.440
2--
TMEM198-
-
-
-
1Loss-
TMEM199-
-
-
-
3Gain-
TMEM200C-
-
-
-
3Gain-
TMEM207-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM212-
-
-
-
3Gain-
TMEM215-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM235-
-
-
-
3Gain-
TMEM237-
-
-
-
1Loss-
TMEM240-
-
-
-
1Loss-
TMEM241-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM254-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM273-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM37-
-
-
-
1Loss-
TMEM39A-
-
-
-
3Gain-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM41B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM52-
-
-
-
1Loss-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM74-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM87B-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMEM92-
-
-
-
3Gain-
TMEM94-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMEM97-
-
-
-
3Gain-
TMEM98-
-
-
-
3Gain-
TMEM99-
-
-
-
3Gain-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD1-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMPRSS7-
-
-
-
3Gain-
TMUB2-
-
-
-
3Gain-
TMX3-
-
-
-
3Gain-
TMX4-
-
-
-
3Gain-
TNFAIP1-
-
-
-
3Gain-
TNFAIP6-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
3Gain-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFSF10-
-
-
-
3Gain-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNIK-
-
-
-
3Gain-
TNIP1-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNKS2-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNRC6B-
-
-
-
1Loss-
TNRC6C-
-
-
-
3Gain-
TNS1-
-
-
-
1Loss-
TNS4-
-
-
-
3Gain-
TOB1-
-
-
-
3Gain-
TOB2-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOM1L1-
-
-
-
3Gain-
TOM1L2-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM5-
-
-
-
1Loss-
TOMM70-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP2Ap.K1489*
Nonsense
SNP
0.376
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
3Gain-
TOPORS-
-
-
-
1Loss-
TP53p.X224_splice
Splice_Site
SNP
1.000
1Loss-
TP53I11-
-
-
-
1Loss-
TP53I13-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TP63-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPGS2-
-
-
-
3Gain-
TPH1-
-
-
-
1Loss-
TPM2-
-
-
-
1Loss-
TPMT-
-
-
-
3Gain-
TPP1-
-
-
-
1Loss-
TPPP-
-
-
-
3Gain-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPRG1L-
-
-
-
7Amp-
TPST2-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TRA2B-
-
-
-
3Gain-
TRABD-
-
-
-
1Loss-
TRAF3IP1-
-
-
-
1Loss-
TRAF4-
-
-
-
3Gain-
TRAF6-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAM1-
-
-
-
3Gain-
TRAM1L1-
-
-
-
1Loss-
TRAM2-
-
-
-
3Gain-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC8-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRARG1-
-
-
-
1Loss-
TRAT1-
-
-
-
3Gain-
TREX1-
-
-
-
1Loss-
TRH-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM2-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM25-
-
-
-
3Gain-
TRIM3-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM37-
-
-
-
3Gain-
TRIM38-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM43-
-
-
-
1Loss-
TRIM43B-
-
-
-
1Loss-
TRIM44-
-
-
-
1Loss-
TRIM47-
-
-
-
3Gain-
TRIM49-
-
-
-
1Loss-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM64B-
-
-
-
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM65-
-
-
-
3Gain-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM75P-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
3Gain-
TRIOBP-
-
-
-
1LossFLNB--TRIOBP
TRIP12-
-
-
-
1Loss-
TRIP13-
-
-
-
3Gain-
TRIQK-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT44-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TRPA1-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPC3-
-
-
-
1Loss-
TRPC4-
-
-
-
1Loss-
TRPC7-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM8-
-
-
-
1Loss-
TRPS1-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRUB1-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSEN54-
-
-
-
3Gain-
TSG101-
-
-
-
1Loss-
TSGA10-
-
-
-
1Loss-
TSHZ1-
-
-
-
3Gain-
TSHZ2p.P556L
Missense
SNP
0.464
2--
TSLP-
-
-
-
1Loss-
TSN-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSPAN10-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSPOAP1-
-
-
-
3Gain-
TSPYL5-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TTC14-
-
-
-
3Gain-
TTC17-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC21B-
-
-
-
1Loss-
TTC23L-
-
-
-
3Gain-
TTC25-
-
-
-
3Gain-
TTC28-
-
-
-
1Loss-
TTC29-
-
-
-
1Loss-
TTC30A-
-
-
-
1Loss-
TTC30B-
-
-
-
1Loss-
TTC33-
-
-
-
3Gain-
TTC34-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39C-
-
-
-
3Gain-
TTL-
-
-
-
1Loss-
TTLL1-
-
-
-
1Loss-
TTLL10-
-
-
-
1Loss-
TTLL12-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTLL6-
-
-
-
3Gain-
TTLL8-
-
-
-
1Loss-
TTN-
-
-
-
1Loss-
TTPA-
-
-
-
3Gain-
TTR-
-
-
-
3Gain-
TTYH2-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA3D-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBB6-
-
-
-
3Gain-
TUBB8p.G146V
Missense
SNP
0.406
2--
TUBD1-
-
-
-
3Gain-
TUBG1-
-
-
-
3Gain-
TUBG2-
-
-
-
3Gain-
TUBGCP6-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST2-
-
-
-
1Loss-
TWNK-
-
-
-
1Loss-
TWSG1-
-
-
-
3Gain-
TXK-
-
-
-
1Loss-
TXN2-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
3Gain-
TXNDC9-
-
-
-
1Loss-
TXNL1-
-
-
-
3Gain-
TXNL4A-
-
-
-
3Gain-
TXNRD3-
-
-
-
3Gain-
TYMP-
-
-
-
1Loss-
TYMS-
-
-
-
3Gain-
TYSND1-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2SURP-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
3Gain-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBALD2-
-
-
-
3Gain-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2D1-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2E3-
-
-
-
1Loss-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2J2-
-
-
-
1Loss-
UBE2K-
-
-
-
1Loss-
UBE2L5-
-
-
-
1Loss-
UBE2O-
-
-
-
3Gain-
UBE2QL1-
-
-
-
3Gain-
UBE2R2-
-
-
-
1Loss-
UBE2W-
-
-
-
3Gain-
UBE2Z-
-
-
-
3Gain-
UBL3-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR3-
-
-
-
1Loss-
UBR5-
-
-
-
3Gain-
UBTD1-
-
-
-
1Loss-
UBTF-
-
-
-
3Gain-
UBTFL1-
-
-
-
1Loss-
UBXN4-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UCHL1-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UCP1-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGGT1-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1-
-
-
-
0Del-
UGT2A2-
-
-
-
0Del-
UGT2A3-
-
-
-
0Del-
UGT2B10-
-
-
-
0Del-
UGT2B11-
-
-
-
0Del-
UGT2B15-
-
-
-
0Del-
UGT2B17-
-
-
-
0Del-
UGT2B28-
-
-
-
0Del-
UGT2B4-
-
-
-
0Del-
UGT2B7-
-
-
-
0Del-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UGT8-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMPS-
-
-
-
3Gain-
UNC119-
-
-
-
3Gain-
UNC13B-
-
-
-
1Loss-
UNC13D-
-
-
-
3Gain-
UNC45B-
-
-
-
3Gain-
UNC50-
-
-
-
1Loss-
UNC5Bp.A294S
Missense
SNP
0.758
1Loss-
UNC5C-
-
-
-
1Loss-
UNC79p.Q2001H
Missense
SNP
0.533
2--
UNC80-
-
-
-
1Loss-
UNK-
-
-
-
3Gain-
UPB1-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPK3A-
-
-
-
1Loss-
UPK3B-
-
-
-
1Loss-
UPP2-
-
-
-
1Loss-
UQCR10-
-
-
-
1Loss-
UQCRB-
-
-
-
3Gain-
UQCRC1-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URAD-
-
-
-
3Gain-
UROC1-
-
-
-
3Gain-
UROS-
-
-
-
1Loss-
USF3-
-
-
-
3Gain-
USH1C-
-
-
-
1Loss-
USH1G-
-
-
-
3Gain-
USO1-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP14-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L13-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP36-
-
-
-
3Gain-
USP37-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP46-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP54-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP18-
-
-
-
3Gain-
UTP23-
-
-
-
3Gain-
UTP3-
-
-
-
1Loss-
UTP6-
-
-
-
3Gain-
UTS2B-
-
-
-
3Gain-
UTS2R-
-
-
-
3Gain-
UVSSA-
-
-
-
1Loss-
UXS1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAPA-
-
-
-
3Gain-
VAT1-
-
-
-
3Gain-
VAX1-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VCP-
-
-
-
1Loss-
VCPIP1-
-
-
-
3Gain-
VDAC1-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VEZF1-
-
-
-
3Gain-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
3Gain-
VMO1-
-
-
-
1Loss-
VMP1-
-
-
-
3Gain-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13B-
-
-
-
3Gain-
VPS25-
-
-
-
3Gain-
VPS26A-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VPS4B-
-
-
-
3Gain-
VPS53-
-
-
-
1Loss-
VPS8-
-
-
-
3Gain-
VSIR-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VTI1A-
-
-
-
1Loss-
VTN-
-
-
-
3Gain-
VWA1-
-
-
-
1Loss-
VWA2-
-
-
-
1Loss-
VWA3B-
-
-
-
1Loss-
VWA5B2-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
VWC2L-
-
-
-
1Loss-
VXN-
-
-
-
3Gain-
WAPL-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WBP2NL-
-
-
-
1Loss-
WBP4-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR12-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR33-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR45B-
-
-
-
3Gain-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR55-
-
-
-
1Loss-
WDR5B-
-
-
-
3Gain-
WDR6-
-
-
-
1Loss-
WDR7-
-
-
-
3Gain-
WDR70-
-
-
-
3Gain-
WDR75-
-
-
-
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Missense
SNP
0.389
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3Gain-
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3Gain-
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3Gain-
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3Gain-
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3Gain-
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3Gain-
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3Gain-
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3Gain-
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3Gain-
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3Gain-
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1Loss-
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1Loss-
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3Gain-
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3Gain-
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1Loss-
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1Loss-
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3Gain-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
ZNHIT3-
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3Gain-
ZNRF3-
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1Loss-
ZPBP2-
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3Gain-
ZPLD1-
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3Gain-
ZRANB1-
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1Loss-
ZRANB3-
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1Loss-
ZSCAN30-
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3Gain-
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1Loss-
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1Loss-
ZSWIM7-
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1Loss-
ZSWIM8-
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1Loss-
ZWINT-
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1Loss-
ZXDC-
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3Gain-
ZZEF1-
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1Loss-