PDMR-891866~317-R~AR2E10M83-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
A3GALT2-
-
-
-
3Gain-
A4GALT-
-
-
-
1Loss-
A4GNT-
-
-
-
3Gain-
AAASp.Q41*
Nonsense
SNP
0.105
2--
AADACL2-
-
-
-
3Gain-
AADACL3-
-
-
-
3Gain-
AADACL4-
-
-
-
3Gain-
AAMDC-
-
-
-
1Loss-
AANAT-
-
-
-
3Gain-
AARSD1-
-
-
-
1Loss-
AASDH-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
AATF-
-
-
-
1Loss-
ABAT-
-
-
-
1Loss-
ABCA10-
-
-
-
3Gain-
ABCA3-
-
-
-
1Loss-
ABCA4-
-
-
-
6Amp-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCC1-
-
-
-
10Amp-
ABCC11p.R614W
Missense
SNP
0.357
2--
ABCC12p.G1068R
p.D98N
Missense
Missense
SNP
SNP
0.378
0.179
2--
ABCC2p.R529W
Missense
SNP
0.102
1Loss-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
3Gain-
ABCC6-
-
-
-
8Amp-
ABCC9-
-
-
-
1Loss-
ABCD3-
-
-
-
6Amp-
ABCF3-
-
-
-
3Gain-
ABCG2-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABHD10-
-
-
-
3Gain-
ABHD13-
-
-
-
1Loss-
ABHD15-
-
-
-
1Loss-
ABHD17C-
-
-
-
1Loss-
ABHD18-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABI1-
-
-
-
1Loss-
ABI3BP-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB1-
-
-
-
3Gain-
AC001226.2-
-
-
-
1Loss-
AC002094.3-
-
-
-
1Loss-
AC002310.4-
-
-
-
1Loss-
AC002310.5-
-
-
-
1Loss-
AC004687.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
3Gain-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005697.1-
-
-
-
1Loss-
AC005702.1-
-
-
-
3Gain-
AC005726.1-
-
-
-
1Loss-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC005837.2-
-
-
-
3Gain-
AC006064.6-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC007326.4-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007952.4-
-
-
-
NDNDRNU6-45P--AC007952.4
AC007998.2-
-
-
-
1Loss-
AC008012.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC009086.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC010197.2-
-
-
-
1Loss-
AC011195.2-
-
-
-
3Gain-
AC011604.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC013394.1-
-
-
-
3Gain-
AC015688.4-
-
-
-
1Loss-
AC015813.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC022335.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC025263.2-
-
-
-
3Gain-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC046185.1-
-
-
-
3Gain-
AC058822.1-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC068775.1-
-
-
-
1Loss-
AC068831.7-
-
-
-
3Gain-
AC068896.1-
-
-
-
1Loss-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC073508.2-
-
-
-
1Loss-
AC083800.1-
-
-
-
3Gain-
AC087289.3-
-
-
-
3Gain-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092111.3-
-
-
-
1Loss-
AC093155.3-
-
-
-
3Gain-
AC093423.3-
-
-
-
6Amp-
AC093512.2-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC098484.3-
-
-
-
3Gain-
AC098582.1-
-
-
-
1Loss-
AC099489.1-
-
-
-
8Amp-
AC099811.2-
-
-
-
1Loss-
AC099850.2-
-
-
-
3Gain-
AC106886.5-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC112128.1-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC113554.1-
-
-
-
3Gain-
AC114490.2-
-
-
-
3Gain-
AC114490.3-
-
-
-
3Gain-
AC117457.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
3Gain-
AC118553.2-
-
-
-
5Amp-
AC119674.2-
-
-
-
3Gain-
AC120114.4-
-
-
-
1Loss-
AC126283.2-
-
-
-
1Loss-
AC127029.3-
-
-
-
3Gain-
AC131160.1-
-
-
-
3Gain-
AC134669.1-
-
-
-
1Loss-
AC134980.3-
-
-
-
1Loss-
AC135050.2-
-
-
-
1Loss-
AC135068.1-
-
-
-
1Loss-
AC135068.3-
-
-
-
1Loss-
AC136428.1-
-
-
-
1Loss-
AC138811.2-
-
-
-
4Gain-
AC138894.1-
-
-
-
1Loss-
AC140504.1-
-
-
-
8Amp-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC245033.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACA-
-
-
-
1Loss-
ACACBp.E656K
Missense
SNP
0.209
2--
ACAD11-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACAD9-
-
-
-
3Gain-
ACADM-
-
-
-
3Gain-
ACADSB-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACAP3-
-
-
-
3Gain-
ACAT1-
-
-
-
1Loss-
ACBD4-
-
-
-
1Loss-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACE-
-
-
-
3Gain-
ACER3-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACLY-
-
-
-
1Loss-
ACMSD-
-
-
-
3Gain-
ACO2-
-
-
-
1Loss-
ACOD1-
-
-
-
1Loss-
ACOT11-
-
-
-
3Gain-
ACOT12-
-
-
-
1Loss-
ACOT7-
-
-
-
3Gain-
ACOX1-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACPP-
-
-
-
3Gain-
ACR-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACRV1-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSM1-
-
-
-
1Loss-
ACSM2Ap.E88K
Missense
SNP
0.154
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS3-
-
-
-
1Loss-
ACTL6A-
-
-
-
3Gain-
ACTL8-
-
-
-
3Gain-
ACTN3-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR5p.P131S
Missense
SNP
0.327
2--
ACTRT1p.R119*
Nonsense
SNP
0.532
NDND-
ACTRT2-
-
-
-
3Gain-
ACTRT3-
-
-
-
3Gain-
ACY3-
-
-
-
1Loss-
ADA2-
-
-
-
1Loss-
ADAD1-
-
-
-
1Loss-
ADAM11-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM21p.D278N
Missense
SNP
0.401
2--
ADAM29p.L90F
Missense
SNP
0.367
2--
ADAM30-
-
-
-
4Gain-
ADAM8-
-
-
-
1Loss-
ADAMTS12-
-
-
-
1Loss-
ADAMTS15-
-
-
-
1Loss-
ADAMTS17-
-
-
-
3Gain-
ADAMTS3-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAP2-
-
-
-
1Loss-
ADARB2-
-
-
-
1Loss-
ADCY5-
-
-
-
3Gain-
ADCY9-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRB2-
-
-
-
3Gain-
ADGRF5p.D495N
Missense
SNP
0.167
2--
ADGRG7-
-
-
-
3Gain-
ADGRL2-
-
-
-
3Gain-
ADGRL3-
-
-
-
1Loss-
ADGRL4-
-
-
-
3Gain-
ADGRV1p.G203E
Missense
SNP
0.136
1Loss-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADIPOQ-
-
-
-
3Gain-
ADIPOR2-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADORA3-
-
-
-
6Amp-
ADPGK-
-
-
-
1Loss-
ADPRH-
-
-
-
3Gain-
ADPRHL1-
-
-
-
1Loss-
ADPRHL2-
-
-
-
3Gain-
ADRA1B-
-
-
-
1Loss-
ADRA2A-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADSL-
-
-
-
1Loss-
AEBP2-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFM-
-
-
-
1Loss-
AFMID-
-
-
-
3Gain-
AFP-
-
-
-
1Loss-
AGBL1-
-
-
-
3Gain-
AGBL4-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGL-
-
-
-
5Amp-
AGMAT-
-
-
-
3Gain-
AGO1-
-
-
-
3Gain-
AGO2p.R126C
Missense
SNP
0.424
2--
AGO3-
-
-
-
3Gain-
AGO4-
-
-
-
3Gain-
AGRN-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AGTRAP-
-
-
-
3Gain-
AGXT2-
-
-
-
1Loss-
AHCYL1-
-
-
-
6Amp-
AHDC1-
-
-
-
3Gain-
AHNAK-
-
-
-
1Loss-
AHSG-
-
-
-
3Gain-
AHSP-
-
-
-
1Loss-
AICDA-
-
-
-
1Loss-
AIFM2-
-
-
-
1Loss-
AIFM3-
-
-
-
1Loss-
AIMP1-
-
-
-
1Loss-
AIP-
-
-
-
1Loss-
AJAP1-
-
-
-
3Gain-
AK2-
-
-
-
3Gain-
AK4-
-
-
-
3Gain-
AK5-
-
-
-
3Gain-
AK6-
-
-
-
1Loss-
AKAP1-
-
-
-
3Gain-
AKAP11-
-
-
-
1Loss-
AKAP3p.E740K
Missense
SNP
0.174
1Loss-
AKAP6p.E837K
Missense
SNP
0.522
2--
AKIRIN1-
-
-
-
3Gain-
AKNAD1-
-
-
-
6Amp-
AKR1A1-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1E2-
-
-
-
1Loss-
AKR7A2-
-
-
-
3Gain-
AKR7A3-
-
-
-
3Gain-
AKR7L-
-
-
-
3Gain-
AL020996.2-
-
-
-
3Gain-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL031281.2-
-
-
-
3Gain-
AL033529.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
6Amp-
AL080251.1-
-
-
-
3Gain-
AL109811.4-
-
-
-
3Gain-
AL117339.5-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL355075.4-
-
-
-
NDNDAL355075.4--CALR
AL355315.1-
-
-
-
1Loss-
AL357673.1-
-
-
-
3Gain-
AL358075.4-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
3Gain-
AL365273.2-
-
-
-
1Loss-
AL445685.3-
-
-
-
3Gain-
AL449266.1-
-
-
-
6Amp-
AL451062.3-
-
-
-
3Gain-
AL512506.3-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
6Amp-
AL662899.2-
-
-
-
2-LEPROT--AL662899.2
AL672043.1-
-
-
-
3Gain-
ALB-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH18A1-
-
-
-
1Loss-
ALDH1A3-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
3Gain-
ALDOA-
-
-
-
1Loss-
ALDOC-
-
-
-
1Loss-
ALG1-
-
-
-
1Loss-
ALG10-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG12-
-
-
-
1Loss-
ALG14-
-
-
-
6Amp-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALG6-
-
-
-
3Gain-
ALG8-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKp.P294S
Missense
SNP
0.146
2--
ALKBH8-
-
-
-
1Loss-
ALOX12Bp.E539K
Missense
SNP
0.593
2--
ALOX5AP-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
3Gain-
ALS2CLp.G443E
Missense
SNP
0.298
2--
ALX1-
-
-
-
1Loss-
ALX3-
-
-
-
6Amp-
AMACR-
-
-
-
1Loss-
AMBN-
-
-
-
1Loss-
AMDHD2-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMER3-
-
-
-
3Gain-
AMIGO1-
-
-
-
6Amp-
AMMECR1L-
-
-
-
3Gain-
AMN1-
-
-
-
1Loss-
AMOTL1-
-
-
-
1Loss-
AMOTL2-
-
-
-
3Gain-
AMPD1-
-
-
-
8Amp-
AMPD2-
-
-
-
6Amp-
AMPHp.R134C
Missense
SNP
0.647
2--
AMTN-
-
-
-
1Loss-
AMY1A-
-
-
-
5Amp-
AMY1B-
-
-
-
5Amp-
AMY1C-
-
-
-
5Amp-
AMY2A-
-
-
-
5Amp-
AMY2B-
-
-
-
5Amp-
AMZ2-
-
-
-
3Gain-
ANAPC13-
-
-
-
3Gain-
ANAPC15-
-
-
-
1Loss-
ANGEL2p.G10S
Missense
SNP
0.519
2--
ANGPTL3-
-
-
-
3Gain-
ANGPTL5-
-
-
-
1Loss-
ANGPTL7-
-
-
-
3Gain-
ANK1p.R1477*
Nonsense
SNP
0.600
2--
ANK2-
-
-
-
1Loss-
ANK3p.E3381K
Missense
SNP
0.275
2--
ANKDD1B-
-
-
-
1Loss-
ANKFN1-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD13B-
-
-
-
1Loss-
ANKRD13C-
-
-
-
3Gain-
ANKRD13D-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD17-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD29-
-
-
-
3Gain-
ANKRD30Ap.H212Y
Missense
SNP
0.720
1Loss-
ANKRD30BL-
-
-
-
3Gain-
ANKRD31-
-
-
-
1Loss-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD42-
-
-
-
1Loss-
ANKRD49-
-
-
-
1Loss-
ANKRD50-
-
-
-
1Loss-
ANKRD54-
-
-
-
1Loss-
ANKRD65-
-
-
-
3Gain-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANKUB1-
-
-
-
3Gain-
ANO1-
-
-
-
1Loss-
ANO2-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANTXR2-
-
-
-
1Loss-
ANXA2R-
-
-
-
1Loss-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOC2-
-
-
-
1Loss-
AOC3-
-
-
-
1Loss-
AP000350.4-
-
-
-
1Loss-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP001931.1-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP2B1-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP4B1-
-
-
-
6Amp-
AP5B1-
-
-
-
1Loss-
APBB1IP-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APLNR-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBp.G1701R
Missense
SNP
0.252
2--
APOBEC1-
-
-
-
1Loss-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3Gp.S18F
Missense
SNP
0.402
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOBR-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOH-
-
-
-
3Gain-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APPBP2-
-
-
-
3Gain-
AQP11-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
AQP8-
-
-
-
1Loss-
ARAP1-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARFGAP3-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARGLU1-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP15-
-
-
-
3Gain-
ARHGAP17-
-
-
-
1Loss-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP23-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26p.D573N
Missense
SNP
0.215
2--
ARHGAP27-
-
-
-
1Loss-
ARHGAP29-
-
-
-
6Amp-
ARHGAP31-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP42-
-
-
-
1Loss-
ARHGAP8-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGEF10L-
-
-
-
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF16-
-
-
-
3Gain-
ARHGEF17-
-
-
-
1Loss-
ARHGEF19-
-
-
-
3Gain-
ARHGEF28-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARHGEF4-
-
-
-
3Gain-
ARHGEF7-
-
-
-
1Loss-
ARID1A-
-
-
-
3Gain-
ARID1Bp.P1904L
Missense
SNP
0.178
2--
ARID3B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4D-
-
-
-
1Loss-
ARL5B-
-
-
-
1Loss-
ARL5C-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL6IP1-
-
-
-
4Gain-
ARL8B-
-
-
-
1Loss-
ARL9-
-
-
-
1Loss-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC5-
-
-
-
1Loss-
ARMC7-
-
-
-
3Gain-
ARMC8-
-
-
-
3Gain-
ARMC9p.S251F
Missense
SNP
0.389
2--
ARMH1-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARNTL2-
-
-
-
1Loss-
ARRB1-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSG-
-
-
-
3Gain-
ARSHp.R125Q
Missense
SNP
0.706
NDND-
ARSJ-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
ARTN-
-
-
-
3Gain-
ARVCF-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH2p.D370N
Missense
SNP
0.394
2--
ASAP3-
-
-
-
3Gain-
ASB13-
-
-
-
1Loss-
ASB16-
-
-
-
1Loss-
ASB17-
-
-
-
3Gain-
ASB7-
-
-
-
3Gain-
ASCC2-
-
-
-
1Loss-
ASGR2p.D289N
Missense
SNP
0.617
2--
ASIC2-
-
-
-
1Loss-
ASPHD1-
-
-
-
1Loss-
ASPHD2-
-
-
-
1Loss-
ASRGL1-
-
-
-
1Loss-
ASTE1-
-
-
-
3Gain-
ASXL3p.S542F
Missense
SNP
0.293
1Loss-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATAD5-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF4-
-
-
-
1Loss-
ATF7IP-
-
-
-
1Loss-
ATF7IP2-
-
-
-
8Amp-
ATG10-
-
-
-
1Loss-
ATG16L2-
-
-
-
1Loss-
ATG2Ap.P658S
Missense
SNP
0.559
1Loss-
ATG3-
-
-
-
3Gain-
ATG4C-
-
-
-
3Gain-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATN1p.E816K
Missense
SNP
0.281
1Loss-
ATOH1-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10Bp.R1043Q
Missense
SNP
0.575
1Loss-
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP12A-
-
-
-
1Loss-
ATP13A2-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1A1-
-
-
-
5Amp-
ATP1B3-
-
-
-
3Gain-
ATP2A1-
-
-
-
1Loss-
ATP2C1-
-
-
-
3Gain-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1C-
-
-
-
1Loss-
ATP5IF1-
-
-
-
3Gain-
ATP5MD-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5MGL-
-
-
-
1Loss-
ATP5PB-
-
-
-
6Amp-
ATP5PD-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A1-
-
-
-
1Loss-
ATP6V0B-
-
-
-
3Gain-
ATP6V0C-
-
-
-
1Loss-
ATP6V1A-
-
-
-
3Gain-
ATP6V1C2-
-
-
-
2-BEST1--ATP6V1C2
ATP6V1E1-
-
-
-
1Loss-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATPAF1-
-
-
-
3Gain-
ATR-
-
-
-
3Gain-
ATRIPp.S325L
Missense
SNP
0.310
2--
ATRNL1p.R1269*
Nonsense
SNP
0.537
1Loss-
ATXN10-
-
-
-
1Loss-
ATXN2L-
-
-
-
1Loss-
ATXN7L2-
-
-
-
6Amp-
ATXN7L3-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
3Gain-
AUNIP-
-
-
-
3Gain-
AURKAIP1-
-
-
-
3Gain-
AVPI1-
-
-
-
1Loss-
AXIN2-
-
-
-
3Gain-
AZIN2-
-
-
-
3Gain-
B3GALNT1-
-
-
-
3Gain-
B3GALT6-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
3Gain-
B3GAT3-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT6-
-
-
-
1Loss-
B4GALNT3-
-
-
-
1Loss-
B4GALT2-
-
-
-
3Gain-
B4GALT4-
-
-
-
3Gain-
B4GALT6-
-
-
-
3Gain-
B4GAT1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BACE2p.L197F
Missense
SNP
0.302
2--
BAD-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
1Loss-
BAMBI-
-
-
-
1Loss-
BANF1-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BARHL2-
-
-
-
6Amp-
BARX2-
-
-
-
1Loss-
BATF2-
-
-
-
1Loss-
BAXp.G103D
Missense
SNP
0.293
2--
BAZ2Bp.P1614L
Missense
SNP
0.351
2--
BBIP1-
-
-
-
1Loss-
BBS1-
-
-
-
1Loss-
BBS10-
-
-
-
3Gain-
BBS12-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBX-
-
-
-
3Gain-
BCAMp.P527S
Missense
SNP
0.406
2--
BCAR3-
-
-
-
6Amp-
BCAS2-
-
-
-
8Amp-
BCAT1-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCHE-
-
-
-
3Gain-
BCKDK-
-
-
-
1Loss-
BCL10-
-
-
-
3Gain-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L12p.R18W
Missense
SNP
0.375
2--
BCL2L13-
-
-
-
1Loss-
BCL2L14-
-
-
-
1Loss-
BCL2L15-
-
-
-
6Amp-
BCL6-
-
-
-
3Gain-
BCL7C-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCLAF1p.R145C
Missense
SNP
0.139
2--
BCO2-
-
-
-
1Loss-
BCR-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BDH2-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BECN1-
-
-
-
1Loss-
BEND5-
-
-
-
3Gain-
BEND7-
-
-
-
1Loss-
BEST1-
-
-
-
1LossBEST1--ATP6V1C2
BEST3-
-
-
-
3Gain-
BEST4-
-
-
-
3Gain-
BFAR-
-
-
-
8Amp-
BFSP2-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BHLHE41-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BICDL2-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN1-
-
-
-
3Gain-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BIRC5-
-
-
-
3Gain-
BIRC8p.K129R
Missense
SNP
0.468
2--
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLMH-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BMI1-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP8A-
-
-
-
3Gain-
BMP8B-
-
-
-
3Gain-
BMPR1B-
-
-
-
1Loss-
BNC1-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOC-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS5-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPIFC-
-
-
-
1Loss-
BPTF-
-
-
-
3Gain-
BRCA1-
-
-
-
1Loss-
BRCA2-
-
-
-
1Loss-
BRD1-
-
-
-
1Loss-
BRDT-
-
-
-
5Amp-
BRICD5-
-
-
-
1Loss-
BRIP1-
-
-
-
3Gain-
BRIX1-
-
-
-
1Loss-
BRMS1-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSDC1-
-
-
-
3Gain-
BSNDp.R30W
Missense
SNP
0.814
3Gain-
BSX-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD18-
-
-
-
1Loss-
BTBD19-
-
-
-
3Gain-
BTBD8-
-
-
-
5Amp-
BTC-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTF3L4-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
BTG4-
-
-
-
1Loss-
BTLA-
-
-
-
3Gain-
BTRC-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf24-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf65p.A259V
Missense
SNP
0.462
1Loss-
C11orf68-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf80-
-
-
-
1Loss-
C11orf86-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88p.E51K
Missense
SNP
0.299
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf4-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60-
-
-
-
1Loss-
C12orf71-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C16orf45-
-
-
-
8Amp-
C16orf54p.R106W
Missense
SNP
0.346
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf72-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf92-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C17orf47-
-
-
-
3Gain-
C17orf50-
-
-
-
1Loss-
C17orf53-
-
-
-
1Loss-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf75-
-
-
-
1Loss-
C17orf78-
-
-
-
1Loss-
C17orf80-
-
-
-
3Gain-
C17orf98-
-
-
-
1Loss-
C17orf99-
-
-
-
3Gain-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf84p.T44I
Missense
SNP
0.174
2--
C1orf109-
-
-
-
3Gain-
C1orf122-
-
-
-
3Gain-
C1orf123-
-
-
-
3Gain-
C1orf127-
-
-
-
3Gain-
C1orf141-
-
-
-
3Gain-
C1orf146-
-
-
-
5Amp-
C1orf158-
-
-
-
3Gain-
C1orf159-
-
-
-
3Gain-
C1orf162-
-
-
-
6Amp-
C1orf167-
-
-
-
3Gain-
C1orf174-
-
-
-
3Gain-
C1orf185-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
6Amp-
C1orf210-
-
-
-
3Gain-
C1orf216-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf50-
-
-
-
3Gain-
C1orf52-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf87-
-
-
-
3Gain-
C1orf94-
-
-
-
3Gain-
C1QA-
-
-
-
3Gain-
C1QB-
-
-
-
3Gain-
C1QC-
-
-
-
3Gain-
C1QL1-
-
-
-
1Loss-
C1QL3-
-
-
-
1Loss-
C1QTNF12-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
1Loss-
C1QTNF3-AMACR-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD3-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD5-
-
-
-
1Loss-
C2orf76-
-
-
-
3Gain-
C3AR1-
-
-
-
1Loss-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf85-
-
-
-
3Gain-
C4orf17-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf22-
-
-
-
1Loss-
C5orf34-
-
-
-
1Loss-
C5orf51-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C6p.S836F
Missense
SNP
0.370
1Loss-
C7-
-
-
-
1Loss-
C8Ap.S395L
Missense
SNP
0.120
3Gain-
C8Bp.E98K
Missense
SNP
0.132
3Gain-
C8orf34p.G237E
Missense
SNP
0.292
2--
C9p.E558K
Missense
SNP
0.520
1Loss-
CA14-
-
-
-
3Gain-
CA4-
-
-
-
3Gain-
CA6-
-
-
-
3Gain-
CAB39L-
-
-
-
1Loss-
CABIN1-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABP2-
-
-
-
1Loss-
CABP4-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CABS1-
-
-
-
1Loss-
CABYR-
-
-
-
3Gain-
CACHD1-
-
-
-
3Gain-
CACNA1Cp.E477K
Missense
SNP
0.260
1Loss-
CACNA1I-
-
-
-
1Loss-
CACNA2D3p.E489K
p.E758K
Missense
Missense
SNP
SNP
0.444
0.409
2--
CACNA2D4-
-
-
-
1Loss-
CACNB1-
-
-
-
1Loss-
CACNB2-
-
-
-
1Loss-
CACNG1-
-
-
-
3Gain-
CACNG2-
-
-
-
1Loss-
CACNG3-
-
-
-
1Loss-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CACUL1-
-
-
-
1Loss-
CADM1-
-
-
-
1Loss-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CALML6-
-
-
-
3Gain-
CALR-
-
-
-
2-AL355075.4--CALR
CALR3p.P211L
Missense
SNP
0.300
2--
CALY-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK2D-
-
-
-
1Loss-
CAMK2N1-
-
-
-
3Gain-
CAMK2N2-
-
-
-
3Gain-
CAMTA1-
-
-
-
3Gain-
CAND1-
-
-
-
3Gain-
CAP1-
-
-
-
3Gain-
CAPN1-
-
-
-
1Loss-
CAPN5-
-
-
-
1Loss-
CAPRIN2-
-
-
-
1Loss-
CAPS2-
-
-
-
3Gain-
CAPSL-
-
-
-
1Loss-
CAPZA1-
-
-
-
6Amp-
CAPZA3-
-
-
-
1Loss-
CAPZB-
-
-
-
3Gain-
CARD10-
-
-
-
1Loss-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARD6-
-
-
-
1Loss-
CARHSP1-
-
-
-
1Loss-
CARNS1-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC1-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASC3-
-
-
-
1Loss-
CASKIN1-
-
-
-
1Loss-
CASKIN2-
-
-
-
3Gain-
CASP1-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP9-
-
-
-
3Gain-
CASQ2-
-
-
-
8Amp-
CASR-
-
-
-
3Gain-
CAST-
-
-
-
1Loss-
CASTOR1-
-
-
-
1Loss-
CASZ1-
-
-
-
3Gain-
CATSPER1-
-
-
-
1Loss-
CATSPER4-
-
-
-
3Gain-
CATSPERBp.R155*
Nonsense
SNP
0.471
2--
CATSPERZ-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN1-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CC2D1B-
-
-
-
3Gain-
CC2D2B-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC103-
-
-
-
1Loss-
CCDC115-
-
-
-
3Gain-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC15-
-
-
-
1Loss-
CCDC152-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC163-
-
-
-
3Gain-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC17-
-
-
-
3Gain-
CCDC172-
-
-
-
1Loss-
CCDC178-
-
-
-
3Gain-
CCDC18-
-
-
-
6Amp-
CCDC182-
-
-
-
3Gain-
CCDC186-
-
-
-
1Loss-
CCDC188-
-
-
-
1Loss-
CCDC189-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC24-
-
-
-
3Gain-
CCDC27-
-
-
-
3Gain-
CCDC28B-
-
-
-
3Gain-
CCDC3-
-
-
-
1Loss-
CCDC30-
-
-
-
3Gain-
CCDC33-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC43-
-
-
-
1Loss-
CCDC47-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC59-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71p.P171S
Missense
SNP
0.403
2--
CCDC74A-
-
-
-
3Gain-
CCDC74B-
-
-
-
3Gain-
CCDC77-
-
-
-
1Loss-
CCDC80-
-
-
-
3Gain-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC86-
-
-
-
1Loss-
CCDC87-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCDC91-
-
-
-
1Loss-
CCER1-
-
-
-
3Gain-
CCL1-
-
-
-
1Loss-
CCL11-
-
-
-
1Loss-
CCL13-
-
-
-
1Loss-
CCL14-
-
-
-
1Loss-
CCL15-
-
-
-
1Loss-
CCL15-CCL14-
-
-
-
1Loss-
CCL16-
-
-
-
1Loss-
CCL18-
-
-
-
1Loss-
CCL2-
-
-
-
1Loss-
CCL23-
-
-
-
1Loss-
CCL28-
-
-
-
1Loss-
CCL3-
-
-
-
1Loss-
CCL3L1-
-
-
-
1Loss-
CCL4-
-
-
-
1Loss-
CCL4L2-
-
-
-
1Loss-
CCL5-
-
-
-
1Loss-
CCL7-
-
-
-
1Loss-
CCL8-
-
-
-
1Loss-
CCNA1-
-
-
-
1Loss-
CCNA2-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCND1-
-
-
-
1Loss-
CCND2-
-
-
-
1Loss-
CCND3p.Q276*
Nonsense
SNP
0.364
2--
CCNF-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNL2-
-
-
-
3Gain-
CCNT2-
-
-
-
3Gain-
CCNY-
-
-
-
1Loss-
CCP110-
-
-
-
1Loss-
CCR10-
-
-
-
1Loss-
CCR7-
-
-
-
1Loss-
CCS-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCT2-
-
-
-
3Gain-
CCT6B-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CD101-
-
-
-
5Amp-
CD109-
-
-
-
3Gain-
CD160-
-
-
-
3Gain-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD164L2-
-
-
-
3Gain-
CD180-
-
-
-
1Loss-
CD19-
-
-
-
1Loss-
CD2p.H321D
Missense
SNP
0.839
5Amp-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD248-
-
-
-
1Loss-
CD27-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD2BP2-
-
-
-
1Loss-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LGp.Q305*
Nonsense
SNP
0.667
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD4-
-
-
-
1Loss-
CD47-
-
-
-
3Gain-
CD5-
-
-
-
1Loss-
CD52-
-
-
-
3Gain-
CD53-
-
-
-
6Amp-
CD58-
-
-
-
5Amp-
CD6-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD80-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD9-
-
-
-
1Loss-
CD96-
-
-
-
3Gain-
CDA-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC14A-
-
-
-
5Amp-
CDC16-
-
-
-
1Loss-
CDC20-
-
-
-
3Gain-
CDC42-
-
-
-
3Gain-
CDC42BPAp.S926L
Missense
SNP
0.121
2--
CDC42BPG-
-
-
-
1Loss-
CDC42EP1-
-
-
-
1Loss-
CDC42EP2-
-
-
-
1Loss-
CDC42EP4-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC45-
-
-
-
1Loss-
CDC6-
-
-
-
1Loss-
CDC7-
-
-
-
5Amp-
CDCA3-
-
-
-
1Loss-
CDCA5-
-
-
-
1Loss-
CDCA8-
-
-
-
3Gain-
CDCP2-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH7-
-
-
-
1Loss-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK12-
-
-
-
1Loss-
CDK17-
-
-
-
2-CDK17--FAM174B
CDK2AP2-
-
-
-
1Loss-
CDK3-
-
-
-
3Gain-
CDK5R1-
-
-
-
1Loss-
CDK7-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDKL2-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN2Ap.X153_splice
Splice_Site
SNP
1.000
2--
CDKN2C-
-
-
-
3Gain-
CDNF-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDR2-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDS1-
-
-
-
1Loss-
CDV3-
-
-
-
3Gain-
CDX2-
-
-
-
1Loss-
CEACAM5p.E253K
Missense
SNP
0.290
2--
CECR2-
-
-
-
1Loss-
CECR5p.R188C
Missense
SNP
0.500
NDND-
CELA2A-
-
-
-
3Gain-
CELA2B-
-
-
-
3Gain-
CELA3A-
-
-
-
3Gain-
CELA3B-
-
-
-
3Gain-
CELF2-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR1p.S636F
Missense
SNP
0.492
1Loss-
CELSR2-
-
-
-
6Amp-
CEMIP-
-
-
-
1Loss-
CEMP1-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPM-
-
-
-
1Loss-
CENPS-
-
-
-
3Gain-
CENPS-CORT-
-
-
-
3Gain-
CEP104-
-
-
-
3Gain-
CEP112-
-
-
-
3Gain-
CEP126-
-
-
-
1Loss-
CEP135-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP295-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP85-
-
-
-
3Gain-
CEP95-
-
-
-
3Gain-
CEP97-
-
-
-
3Gain-
CEPT1-
-
-
-
6Amp-
CERK-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
3Gain-
CETN3-
-
-
-
1Loss-
CFAP100-
-
-
-
3Gain-
CFAP161-
-
-
-
1Loss-
CFAP221-
-
-
-
3Gain-
CFAP299-
-
-
-
1Loss-
CFAP300-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54-
-
-
-
3Gain-
CFAP57-
-
-
-
3Gain-
CFAP58-
-
-
-
1Loss-
CFAP65p.R136K
Missense
SNP
0.468
2--
CFAP74-
-
-
-
3Gain-
CFAP97D1-
-
-
-
1Loss-
CFC1-
-
-
-
3Gain-
CFC1B-
-
-
-
3Gain-
CFHR5p.N178Kfs*20
Frame_Shift_Ins
INS
0.190
2--
CFI-
-
-
-
1Loss-
CFL1-
-
-
-
1Loss-
CGAS-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CH25H-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
3Gain-
CHD4-
-
-
-
1Loss-
CHD5p.S796F
Missense
SNP
0.709
3Gain-
CHEK1-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHI3L2-
-
-
-
6Amp-
CHIA-
-
-
-
6Amp-
CHIC2-
-
-
-
1Loss-
CHKA-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHL1p.M167I
Missense
SNP
0.300
1Loss-
CHMP7p.S120F
Missense
SNP
0.500
2--
CHORDC1-
-
-
-
1Loss-
CHP2-
-
-
-
1Loss-
CHRD-
-
-
-
3Gain-
CHRDL2-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM3p.S23N
Missense
SNP
0.540
2--
CHRNA3-
-
-
-
1Loss-
CHRNA4p.P494S
Missense
SNP
0.456
2--
CHRNA5-
-
-
-
1Loss-
CHRNB4-
-
-
-
1Loss-
CHST13-
-
-
-
3Gain-
CHST15-
-
-
-
1Loss-
CHST2-
-
-
-
3Gain-
CHST9-
-
-
-
1Loss-
CHSY1-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CHUK-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB2-
-
-
-
1Loss-
CIITA-
-
-
-
8Amp-
CIP2A-
-
-
-
3Gain-
CISD2-
-
-
-
1Loss-
CISD3-
-
-
-
1Loss-
CITED4-
-
-
-
3Gain-
CKAP2-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLASP1-
-
-
-
3Gain-
CLCA1-
-
-
-
3Gain-
CLCA2-
-
-
-
3Gain-
CLCA4-
-
-
-
3Gain-
CLCC1-
-
-
-
6Amp-
CLCF1-
-
-
-
1Loss-
CLCN2-
-
-
-
3Gain-
CLCN6-
-
-
-
3Gain-
CLCNKA-
-
-
-
3Gain-
CLCNKB-
-
-
-
3Gain-
CLDN1-
-
-
-
3Gain-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN19-
-
-
-
3Gain-
CLDN25-
-
-
-
1Loss-
CLDN5-
-
-
-
1Loss-
CLDN6-
-
-
-
1Loss-
CLDN9-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC16A-
-
-
-
8Amp-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLIC4-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLK3-
-
-
-
1Loss-
CLLU1OS-
-
-
-
3Gain-
CLMP-
-
-
-
1Loss-
CLN3-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLNS1A-
-
-
-
1Loss-
CLOCK-
-
-
-
1Loss-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLRN3-
-
-
-
1Loss-
CLSPN-
-
-
-
3Gain-
CLSTN1-
-
-
-
3Gain-
CLSTN2-
-
-
-
3Gain-
CLSTN3-
-
-
-
1Loss-
CLTC-
-
-
-
3Gain-
CLTCL1-
-
-
-
1Loss-
CLUAP1-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMAS-
-
-
-
1Loss-
CMPK1-
-
-
-
3Gain-
CMSS1-
-
-
-
3Gain-
CMYA5-
-
-
-
1Loss-
CNBP-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNIH2-
-
-
-
1Loss-
CNKSR1-
-
-
-
3Gain-
CNMD-
-
-
-
1Loss-
CNN3-
-
-
-
6Amp-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT2-
-
-
-
3Gain-
CNOT6L-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNP-
-
-
-
1Loss-
CNR2-
-
-
-
3Gain-
CNTD1-
-
-
-
1Loss-
CNTF-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5p.E619K
Missense
SNP
0.434
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP1-
-
-
-
1Loss-
CNTNAP5-
-
-
-
3Gain-
COA3-
-
-
-
1Loss-
COA4-
-
-
-
1Loss-
COA7-
-
-
-
3Gain-
COASY-
-
-
-
1Loss-
COG1-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COG7-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL11A1-
-
-
-
5Amp-
COL12A1-
-
-
-
3Gain-
COL16A1-
-
-
-
3Gain-
COL17A1-
-
-
-
1Loss-
COL18A1p.F507L
Missense
SNP
0.418
2--
COL19A1-
-
-
-
1Loss-
COL24A1-
-
-
-
3Gain-
COL25A1-
-
-
-
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A2p.P1042S
Missense
SNP
0.578
1Loss-
COL4A3BP-
-
-
-
1Loss-
COL4A4p.G993E
Missense
SNP
0.409
2--
COL5A3p.R1341K
Missense
SNP
0.330
2--
COL6A3p.R856C
Missense
SNP
0.256
2--
COL6A5-
-
-
-
3Gain-
COL6A6p.P912S
Missense
SNP
0.314
3Gain-
COL8A1-
-
-
-
3Gain-
COL8A2-
-
-
-
3Gain-
COL9A1-
-
-
-
1Loss-
COL9A2-
-
-
-
3Gain-
COLCA2-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD4-
-
-
-
1Loss-
COMMD6-
-
-
-
1Loss-
COMT-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COPRS-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS7A-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
CORO1A-
-
-
-
1Loss-
CORO1B-
-
-
-
1Loss-
CORO6-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
CORT-
-
-
-
3Gain-
COX11-
-
-
-
3Gain-
COX15-
-
-
-
1Loss-
COX17-
-
-
-
3Gain-
COX18-
-
-
-
1Loss-
COX5A-
-
-
-
1Loss-
COX6A2-
-
-
-
1Loss-
COX7A2-
-
-
-
3Gain-
COX8A-
-
-
-
1Loss-
CP-
-
-
-
3Gain-
CPA3p.S305F
Missense
SNP
0.545
3Gain-
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPD-
-
-
-
1Loss-
CPEB1-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPLANE1-
-
-
-
1Loss-
CPLANE2-
-
-
-
3Gain-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
3Gain-
CPN1-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPOX-
-
-
-
3Gain-
CPPED1-
-
-
-
8Amp-
CPSF4L-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPT1B-
-
-
-
1Loss-
CPT2-
-
-
-
3Gain-
CPTP-
-
-
-
3Gain-
CPXM2-
-
-
-
1Loss-
CR2p.R643C
Missense
SNP
0.159
2--
CRABP1-
-
-
-
1Loss-
CRACR2A-
-
-
-
1Loss-
CRB1p.E863K
Missense
SNP
0.333
2--
CRBN-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREBBP-
-
-
-
1Loss-
CREBL2-
-
-
-
1Loss-
CREBZF-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CREM-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRHR1-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLF3-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTAM-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRXp.P240L
Missense
SNP
0.305
2--
CRYAB-
-
-
-
1Loss-
CRYBA1-
-
-
-
1Loss-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYBG2-
-
-
-
3Gain-
CRYBG3-
-
-
-
3Gain-
CRYGS-
-
-
-
3Gain-
CRYL1-
-
-
-
1Loss-
CRYM-
-
-
-
1Loss-
CRYZ-
-
-
-
3Gain-
CSDC2-
-
-
-
1Loss-
CSDE1-
-
-
-
8Amp-
CSF1-
-
-
-
6Amp-
CSF2RB-
-
-
-
1Loss-
CSF3-
-
-
-
1Loss-
CSF3R-
-
-
-
3Gain-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSK-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD2-
-
-
-
3Gain-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1E-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CSPP1p.Q150*
Nonsense
SNP
0.519
2--
CSRP1-
-
-
-
2-VANGL2--CSRP1
CSRP2-
-
-
-
3Gain-
CST6-
-
-
-
1Loss-
CSTA-
-
-
-
3Gain-
CSTBp.A40D
Missense
SNP
0.347
2--
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
3Gain-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
3Gain-
CTDP1-
-
-
-
1Loss-
CTF1-
-
-
-
1Loss-
CTH-
-
-
-
3Gain-
CTIF-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
3Gain-
CTNND1-
-
-
-
1Loss-
CTPS1-
-
-
-
3Gain-
CTR9p.H153Y
Missense
SNP
0.421
2--
CTRC-
-
-
-
3Gain-
CTSC-
-
-
-
1Loss-
CTSF-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSW-
-
-
-
1Loss-
CTTN-
-
-
-
1Loss-
CTTNBP2NL-
-
-
-
6Amp-
CUBN-
-
-
-
1Loss-
CUEDC1-
-
-
-
3Gain-
CUEDC2-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CUL5-
-
-
-
1Loss-
CUTC-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWC25-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CWF19L2p.P842S
Missense
SNP
0.478
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR2p.G324R
Missense
SNP
0.342
2--
CXCR4-
-
-
-
3Gain-
CXCR5-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CYB561-
-
-
-
3Gain-
CYB561A3-
-
-
-
1Loss-
CYB561D1-
-
-
-
6Amp-
CYB5A-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYB5RL-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYGB-
-
-
-
3Gain-
CYP11A1-
-
-
-
1Loss-
CYP11B2p.V129M
Missense
SNP
0.513
2--
CYP17A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27C1-
-
-
-
3Gain-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8p.S460F
Missense
SNP
0.444
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2J2-
-
-
-
3Gain-
CYP2U1-
-
-
-
1Loss-
CYP4A11-
-
-
-
3Gain-
CYP4A22-
-
-
-
3Gain-
CYP4B1-
-
-
-
3Gain-
CYP4X1-
-
-
-
3Gain-
CYP4Z1-
-
-
-
3Gain-
CYR61-
-
-
-
3Gain-
CYSLTR2-
-
-
-
1Loss-
CYTH4-
-
-
-
1Loss-
DAB1-
-
-
-
3Gain-
DAB2-
-
-
-
1Loss-
DACH1p.E522K
Missense
SNP
0.565
1Loss-
DAGLA-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DARS-
-
-
-
3Gain-
DBF4B-
-
-
-
1Loss-
DBI-
-
-
-
3Gain-
DBR1-
-
-
-
3Gain-
DBT-
-
-
-
5Amp-
DCAF7-
-
-
-
3Gain-
DCAKD-
-
-
-
1Loss-
DCBLD2-
-
-
-
3Gain-
DCCp.R1337*
Nonsense
SNP
0.565
1Loss-
DCDC2B-
-
-
-
3Gain-
DCK-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1B-
-
-
-
6Amp-
DCLRE1C-
-
-
-
1Loss-
DCN-
-
-
-
3Gain-
DCP1B-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCT-
-
-
-
1Loss-
DCTN5-
-
-
-
1Loss-
DCTPP1-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
1Loss-
DCUN1D3-
-
-
-
1Loss-
DCUN1D4-
-
-
-
1Loss-
DCUN1D5-
-
-
-
1Loss-
DDAH1-
-
-
-
3Gain-
DDB1-
-
-
-
1Loss-
DDI1-
-
-
-
1Loss-
DDI2-
-
-
-
3Gain-
DDIAS-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDOST-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX10-
-
-
-
1Loss-
DDX11-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX20-
-
-
-
6Amp-
DDX25-
-
-
-
1Loss-
DDX42-
-
-
-
3Gain-
DDX43-
-
-
-
3Gain-
DDX47-
-
-
-
1Loss-
DDX5-
-
-
-
3Gain-
DDX52-
-
-
-
1Loss-
DDX6-
-
-
-
1Loss-
DENND1Ap.G248R
Missense
SNP
0.314
2--
DENND2C-
-
-
-
8Amp-
DENND2D-
-
-
-
6Amp-
DENND4B-
-
-
-
3Gain-
DENND5B-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DEPDC1-
-
-
-
3Gain-
DEPDC5-
-
-
-
1Loss-
DERA-
-
-
-
1Loss-
DERL3-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DEUP1-
-
-
-
1Loss-
DFFA-
-
-
-
3Gain-
DFFB-
-
-
-
3Gain-
DGAT2-
-
-
-
1Loss-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKE-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DHCR24-
-
-
-
3Gain-
DHCR7-
-
-
-
1Loss-
DHDDS-
-
-
-
3Gain-
DHFR-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHRS11-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS13-
-
-
-
1Loss-
DHRS3-
-
-
-
3Gain-
DHTKD1-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX37p.E107K
Missense
SNP
0.341
2--
DHX40-
-
-
-
3Gain-
DHX58-
-
-
-
1Loss-
DHX8-
-
-
-
1Loss-
DIAPH3-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIO1-
-
-
-
3Gain-
DIP2C-
-
-
-
1Loss-
DIRAS3-
-
-
-
3Gain-
DIRC2-
-
-
-
3Gain-
DIS3-
-
-
-
1Loss-
DISP3p.E17K
Missense
SNP
0.696
3Gain-
DIXDC1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLG2-
-
-
-
1Loss-
DLG5p.S604F
Missense
SNP
0.154
2--
DLGAP3-
-
-
-
3Gain-
DMAP1-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMBX1-
-
-
-
3Gain-
DMC1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMRTA2-
-
-
-
3Gain-
DMRTB1-
-
-
-
3Gain-
DNAH17p.E3587K
Missense
SNP
0.297
2--
DNAH3-
-
-
-
1Loss-
DNAH5p.E3549K
p.E3208K
Missense
Missense
SNP
SNP
0.494
0.163
2--
DNAH7p.R3333*
Nonsense
SNP
0.424
2--
DNAH8p.P1182S
Missense
SNP
0.293
2--
DNAI2-
-
-
-
3Gain-
DNAJA3-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB13-
-
-
-
1Loss-
DNAJB14-
-
-
-
1Loss-
DNAJB4-
-
-
-
3Gain-
DNAJB7-
-
-
-
1Loss-
DNAJB8-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC11-
-
-
-
3Gain-
DNAJC13-
-
-
-
3Gain-
DNAJC15-
-
-
-
1Loss-
DNAJC16-
-
-
-
3Gain-
DNAJC19p.R84Q
Missense
SNP
0.414
3Gain-
DNAJC21-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC4-
-
-
-
1Loss-
DNAJC6-
-
-
-
3Gain-
DNAJC7-
-
-
-
1Loss-
DNAJC8-
-
-
-
3Gain-
DNAL4-
-
-
-
1Loss-
DNALI1-
-
-
-
3Gain-
DNASE1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
1Loss-
DNASE2B-
-
-
-
3Gain-
DNM1L-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DNTTIP2-
-
-
-
6Amp-
DOC2A-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK3p.R126Q
Missense
SNP
0.450
2--
DOCK7-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPH2-
-
-
-
3Gain-
DPH5-
-
-
-
5Amp-
DPP3-
-
-
-
1Loss-
DPP6p.D320N
Missense
SNP
0.406
2--
DPPA2-
-
-
-
3Gain-
DPPA3-
-
-
-
1Loss-
DPPA4-
-
-
-
3Gain-
DPPA5-
-
-
-
3Gain-
DPYD-
-
-
-
6Amp-
DPYSL4-
-
-
-
1Loss-
DR1-
-
-
-
6Amp-
DRAM2-
-
-
-
6Amp-
DRAP1-
-
-
-
1Loss-
DRAXIN-
-
-
-
3Gain-
DRD2-
-
-
-
1Loss-
DRD3-
-
-
-
3Gain-
DRG1-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DSCAML1-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSPP-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTX3L-
-
-
-
3Gain-
DTX4-
-
-
-
1Loss-
DUOX1p.R353Q
Missense
SNP
0.196
2--
DUSP14-
-
-
-
1Loss-
DUSP16-
-
-
-
1Loss-
DUSP18-
-
-
-
1Loss-
DUSP3-
-
-
-
1Loss-
DUSP5-
-
-
-
1Loss-
DVL1-
-
-
-
3Gain-
DVL3p.E165*
Nonsense
SNP
0.612
3Gain-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYNLL2-
-
-
-
3Gain-
DYRK2-
-
-
-
3Gain-
DYRK4-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
DZIP3p.S559F
Missense
SNP
0.500
3Gain-
E2F2-
-
-
-
3Gain-
E2F7-
-
-
-
3Gain-
E4F1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EARS2-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBF3-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
EBNA1BP2p.G38R
Missense
SNP
0.274
3Gain-
EBPL-
-
-
-
1Loss-
ECE1-
-
-
-
3Gain-
ECE2-
-
-
-
3Gain-
ECHDC2-
-
-
-
3Gain-
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
ECI1-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECT2-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EDN2-
-
-
-
3Gain-
EDNRB-
-
-
-
1Loss-
EDRF1p.L205F
Missense
SNP
0.297
1Loss-
EEA1-
-
-
-
3Gain-
EED-
-
-
-
1Loss-
EEF1A1-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1G-
-
-
-
1Loss-
EEF2K-
-
-
-
1Loss-
EEF2KMT-
-
-
-
1Loss-
EEFSEC-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCAB14-
-
-
-
3Gain-
EFCAB3-
-
-
-
3Gain-
EFCAB5-
-
-
-
1Loss-
EFCAB6-
-
-
-
1Loss-
EFCAB7-
-
-
-
3Gain-
EFCC1-
-
-
-
3Gain-
EFEMP2-
-
-
-
1Loss-
EFHC2p.R522C
Missense
SNP
0.625
NDND-
EFHD2-
-
-
-
3Gain-
EFL1-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFTUD2-
-
-
-
1Loss-
EGF-
-
-
-
1Loss-
EGFLAM-
-
-
-
1Loss-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EHD2p.S256F
Missense
SNP
0.340
2--
EHHADH-
-
-
-
3Gain-
EI24-
-
-
-
1Loss-
EIF1-
-
-
-
1Loss-
EIF1AD-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2B3-
-
-
-
3Gain-
EIF2B5-
-
-
-
3Gain-
EIF2S3B-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3I-
-
-
-
3Gain-
EIF3L-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4E-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF4G2-
-
-
-
2-EIF4G2--IFNGR1
EIF4G3-
-
-
-
3Gain-
EIF5A2-
-
-
-
3Gain-
ELAC1-
-
-
-
1Loss-
ELAVL4-
-
-
-
3Gain-
ELF1-
-
-
-
1Loss-
ELF3p.R233C
Missense
SNP
0.478
2--
ELFN2-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELMOD1-
-
-
-
1Loss-
ELOA-
-
-
-
3Gain-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOB-
-
-
-
1Loss-
ELOVL1-
-
-
-
3Gain-
ELOVL2p.R22Q
Missense
SNP
0.375
2--
ELOVL3-
-
-
-
1Loss-
ELOVL6-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
EMC1-
-
-
-
3Gain-
EMCN-
-
-
-
1Loss-
EMG1-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EML3-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
EMP2-
-
-
-
8Amp-
EMSY-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
ENAM-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENO1-
-
-
-
3Gain-
ENO2-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPEP-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD1-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EPB41-
-
-
-
3Gain-
EPB41L5-
-
-
-
3Gain-
EPC1-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA10-
-
-
-
3Gain-
EPHA2-
-
-
-
3Gain-
EPHA5-
-
-
-
1Loss-
EPHA6-
-
-
-
3Gain-
EPHA7p.P381T
Missense
SNP
0.118
2--
EPHA8-
-
-
-
3Gain-
EPHB1-
-
-
-
3Gain-
EPHB2-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPHX4-
-
-
-
5Amp-
EPOP-
-
-
-
1Loss-
EPS15-
-
-
-
3Gain-
EPS8-
-
-
-
1Loss-
EPS8L3-
-
-
-
6Amp-
EPSTI1-
-
-
-
1Loss-
EPX-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
ERAL1-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB2-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERC1-
-
-
-
1Loss-
ERCC3-
-
-
-
3Gain-
ERCC4-
-
-
-
8Amp-
ERCC5-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERGIC2-
-
-
-
1Loss-
ERI2-
-
-
-
1Loss-
ERI3-
-
-
-
3Gain-
ERICH3p.E1180K
p.E663K
Missense
Missense
SNP
SNP
0.192
0.226
3Gain-
ERICH6-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERMAP-
-
-
-
3Gain-
ERN1-
-
-
-
3Gain-
ERN2-
-
-
-
1Loss-
ERP27-
-
-
-
1Loss-
ERRFI1-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESCO1-
-
-
-
3Gain-
ESD-
-
-
-
1Loss-
ESPN-
-
-
-
3Gain-
ESRRA-
-
-
-
1Loss-
ESS2-
-
-
-
1Loss-
ESYT3-
-
-
-
3Gain-
ETFA-
-
-
-
1Loss-
ETFBKMT-
-
-
-
1Loss-
ETFRF1-
-
-
-
1Loss-
ETNK1-
-
-
-
1Loss-
ETNPPL-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
ETV4-
-
-
-
1Loss-
ETV5-
-
-
-
3Gain-
ETV6-
-
-
-
1Loss-
EVA1B-
-
-
-
3Gain-
EVI2A-
-
-
-
1Loss-
EVI2B-
-
-
-
1Loss-
EVI5-
-
-
-
6Amp-
EVPL-
-
-
-
3Gain-
EWSR1p.G506E
Missense
SNP
0.347
1Loss-
EXO5-
-
-
-
3Gain-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOC7-
-
-
-
3Gain-
EXOSC1-
-
-
-
1Loss-
EXOSC10-
-
-
-
3Gain-
EXOSC8-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EXTL1-
-
-
-
3Gain-
EXTL2-
-
-
-
5Amp-
EYA3-
-
-
-
3Gain-
EYSp.E1997K
Missense
SNP
0.320
2--
EZH1-
-
-
-
1Loss-
F10-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F3-
-
-
-
6Amp-
F7-
-
-
-
1Loss-
FAAH-
-
-
-
3Gain-
FAAP20-
-
-
-
3Gain-
FABP2-
-
-
-
1Loss-
FABP3-
-
-
-
3Gain-
FABP6-
-
-
-
1Loss-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FADS6-
-
-
-
3Gain-
FAF1-
-
-
-
3Gain-
FAH-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM102B-
-
-
-
6Amp-
FAM104A-
-
-
-
3Gain-
FAM107B-
-
-
-
1Loss-
FAM110D-
-
-
-
3Gain-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM117Ap.E154K
Missense
SNP
0.593
2--
FAM118A-
-
-
-
1Loss-
FAM118B-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM131C-
-
-
-
3Gain-
FAM135A-
-
-
-
3Gain-
FAM13A-
-
-
-
1Loss-
FAM151A-
-
-
-
3Gain-
FAM151B-
-
-
-
1Loss-
FAM155Ap.S224L
Missense
SNP
0.677
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM162A-
-
-
-
3Gain-
FAM167B-
-
-
-
3Gain-
FAM168A-
-
-
-
1Loss-
FAM168B-
-
-
-
3Gain-
FAM169A-
-
-
-
1Loss-
FAM171A1-
-
-
-
1Loss-
FAM171A2-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM174B-
-
-
-
3GainCDK17--FAM174B
FAM179Ap.G148R
Missense
SNP
0.500
NDND-
FAM181B-
-
-
-
1Loss-
FAM183A-
-
-
-
3Gain-
FAM187A-
-
-
-
1Loss-
FAM19A2p.G104E
Missense
SNP
0.167
2--
FAM19A3-
-
-
-
6Amp-
FAM19A5-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM20A-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM219B-
-
-
-
1Loss-
FAM222B-
-
-
-
1Loss-
FAM227A-
-
-
-
1Loss-
FAM229A-
-
-
-
3Gain-
FAM234B-
-
-
-
1Loss-
FAM241A-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM43A-
-
-
-
3Gain-
FAM43B-
-
-
-
3Gain-
FAM45A-
-
-
-
1Loss-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM57B-
-
-
-
1Loss-
FAM69A-
-
-
-
6Amp-
FAM69C-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71Cp.K106N
Missense
SNP
0.424
2--
FAM76A-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83Bp.P828H
Missense
SNP
0.372
2--
FAM83F-
-
-
-
1Loss-
FAM86C1-
-
-
-
1Loss-
FAM89B-
-
-
-
1Loss-
FANCD2p.G713D
Missense
SNP
0.205
2--
FANK1-
-
-
-
1Loss-
FAR2-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FAT2-
-
-
-
1Loss-
FAT3p.D78N
Missense
SNP
0.443
1Loss-
FAT4-
-
-
-
1Loss-
FAU-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBF1-
-
-
-
3Gain-
FBH1-
-
-
-
1Loss-
FBLIM1-
-
-
-
3Gain-
FBLL1-
-
-
-
1Loss-
FBLN1-
-
-
-
1Loss-
FBRS-
-
-
-
1Loss-
FBXL14-
-
-
-
1Loss-
FBXL15-
-
-
-
1Loss-
FBXL19-
-
-
-
1Loss-
FBXL20-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO2-
-
-
-
3Gain-
FBXO22-
-
-
-
1Loss-
FBXO4-
-
-
-
1Loss-
FBXO40-
-
-
-
3Gain-
FBXO42-
-
-
-
3Gain-
FBXO44-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO47-
-
-
-
1Loss-
FBXO6-
-
-
-
3Gain-
FBXO7-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
4Gain-
FCHO2-
-
-
-
1Loss-
FCHSD2-
-
-
-
1Loss-
FCN3-
-
-
-
3Gain-
FDCSP-
-
-
-
1Loss-
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FDXR-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FEN1-
-
-
-
1Loss-
FER1L6p.P1379S
Missense
SNP
0.214
2--
FERMT3-
-
-
-
1Loss-
FES-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEZ1p.P355L
Missense
SNP
0.345
1Loss-
FFAR4-
-
-
-
1Loss-
FGD4-
-
-
-
1Loss-
FGD5p.S718F
Missense
SNP
0.330
2--
FGD6-
-
-
-
3Gain-
FGF10-
-
-
-
1Loss-
FGF12-
-
-
-
3Gain-
FGF13p.R49C
Missense
SNP
0.516
NDND-
FGF14-
-
-
-
1Loss-
FGF19-
-
-
-
1Loss-
FGF2-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF6-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGGY-
-
-
-
3Gain-
FGR-
-
-
-
3Gain-
FHAD1-
-
-
-
3Gain-
FHL3-
-
-
-
3Gain-
FHOD3-
-
-
-
1Loss-
FIBP-
-
-
-
1Loss-
FILIP1-
-
-
-
3Gain-
FILIP1L-
-
-
-
3Gain-
FIP1L1-
-
-
-
1Loss-
FKBP10-
-
-
-
1Loss-
FKBP2-
-
-
-
1Loss-
FKBP4-
-
-
-
1Loss-
FKBP7-
-
-
-
3Gain-
FKBP8p.P161S
Missense
SNP
0.279
2--
FLGp.S2476F
Missense
SNP
0.411
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLNCp.E1582K
Missense
SNP
0.333
2--
FLOT2-
-
-
-
1Loss-
FLRT1-
-
-
-
1Loss-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMNL1-
-
-
-
1Loss-
FMO5-
-
-
-
3Gain-
FNBP1L-
-
-
-
6Amp-
FNDC10-
-
-
-
3Gain-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
3Gain-
FNDC5-
-
-
-
3Gain-
FNDC7-
-
-
-
6Amp-
FNDC8-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOPNL-
-
-
-
10Amp-
FOSL1-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXD2-
-
-
-
3Gain-
FOXD3-
-
-
-
3Gain-
FOXE3-
-
-
-
3Gain-
FOXI2-
-
-
-
1Loss-
FOXJ1-
-
-
-
3Gain-
FOXJ2-
-
-
-
1Loss-
FOXJ3-
-
-
-
3Gain-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXM1-
-
-
-
1Loss-
FOXN1-
-
-
-
1Loss-
FOXO1-
-
-
-
1Loss-
FOXO6-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FOXRED2-
-
-
-
1Loss-
FPGT-
-
-
-
3Gain-
FPGT-TNNI3K-
-
-
-
3Gain-
FRA10AC1-
-
-
-
1Loss-
FRAS1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRMD3p.S346F
Missense
SNP
0.256
2--
FRMD4A-
-
-
-
1Loss-
FRMD8-
-
-
-
1Loss-
FRRS1-
-
-
-
5Amp-
FRS2-
-
-
-
3Gain-
FRY-
-
-
-
1Loss-
FSD2-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FTH1-
-
-
-
1Loss-
FTSJ3-
-
-
-
3Gain-
FUBP1-
-
-
-
3Gain-
FUCA1-
-
-
-
3Gain-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
3Gain-
FUS-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYB1-
-
-
-
1Loss-
FYB2-
-
-
-
3Gain-
FYTTD1-
-
-
-
3Gain-
FZD2-
-
-
-
1Loss-
FZD4-
-
-
-
1Loss-
FZD8-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
G6PC-
-
-
-
1Loss-
G6PC3-
-
-
-
1Loss-
GAB2-
-
-
-
1Loss-
GAB4-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA4p.E217K
Missense
SNP
0.448
2--
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRD-
-
-
-
3Gain-
GABRG2-
-
-
-
1Loss-
GABRQp.S429L
Missense
SNP
0.485
NDND-
GABRR3-
-
-
-
3Gain-
GAD2-
-
-
-
1Loss-
GADD45A-
-
-
-
3Gain-
GAL-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GAL3ST3-
-
-
-
1Loss-
GALE-
-
-
-
3Gain-
GALK1-
-
-
-
3Gain-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT16p.R136C
Missense
SNP
0.333
2--
GALNT8-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALR2-
-
-
-
3Gain-
GALR3-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAPDH-
-
-
-
1Loss-
GAR1-
-
-
-
1Loss-
GAREM1-
-
-
-
3Gain-
GAS2L1-
-
-
-
1Loss-
GAS2L2-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GAST-
-
-
-
1Loss-
GATA2-
-
-
-
3Gain-
GATA3-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GBF1-
-
-
-
1Loss-
GBP1-
-
-
-
6Amp-
GBP2-
-
-
-
6Amp-
GBP3-
-
-
-
6Amp-
GBP4-
-
-
-
6Amp-
GBP5-
-
-
-
6Amp-
GBP6-
-
-
-
6Amp-
GBP7-
-
-
-
6Amp-
GC-
-
-
-
1Loss-
GCAT-
-
-
-
1Loss-
GCLM-
-
-
-
6Amp-
GCNT4-
-
-
-
1Loss-
GCSAM-
-
-
-
3Gain-
GDAP2-
-
-
-
5Amp-
GDE1-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GDNF-
-
-
-
1Loss-
GDPD1-
-
-
-
3Gain-
GDPD3-
-
-
-
1Loss-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GFAP-
-
-
-
1Loss-
GFER-
-
-
-
1Loss-
GFI1-
-
-
-
6Amp-
GFM2-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GGA1-
-
-
-
1Loss-
GGA2-
-
-
-
1Loss-
GGA3-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGCXp.G732E
Missense
SNP
0.357
2--
GGNBP2-
-
-
-
1Loss-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGTLC2-
-
-
-
1Loss-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHDC-
-
-
-
1Loss-
GHR-
-
-
-
1Loss-
GHSR-
-
-
-
3Gain-
GIF-
-
-
-
1Loss-
GIMD1-
-
-
-
1Loss-
GINS1p.R73*
Nonsense
SNP
0.362
2--
GIPC2-
-
-
-
3Gain-
GIT1-
-
-
-
1Loss-
GJA3-
-
-
-
1Loss-
GJA4-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJA9-
-
-
-
3Gain-
GJA9-MYCBP-
-
-
-
3Gain-
GJB2-
-
-
-
1Loss-
GJB3-
-
-
-
3Gain-
GJB4-
-
-
-
3Gain-
GJB5-
-
-
-
3Gain-
GJB6-
-
-
-
1Loss-
GJC1-
-
-
-
1Loss-
GJD3-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLI2-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIS1-
-
-
-
3Gain-
GLIS2-
-
-
-
1Loss-
GLMN-
-
-
-
5Amp-
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GLYR1-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMEB1-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GNA13-
-
-
-
3Gain-
GNA14p.E66K
Missense
SNP
0.357
2--
GNAI3-
-
-
-
6Amp-
GNAT2-
-
-
-
6Amp-
GNAZ-
-
-
-
1Loss-
GNB1-
-
-
-
3Gain-
GNB1L-
-
-
-
1Loss-
GNB3-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNG12-
-
-
-
3Gain-
GNG3-
-
-
-
1Loss-
GNG5-
-
-
-
3Gain-
GNL2-
-
-
-
3Gain-
GNRHR-
-
-
-
1Loss-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA6L10-
-
-
-
1Loss-
GOLGA6L22-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLPH3-
-
-
-
1Loss-
GOLPH3L-
-
-
-
3Gain-
GOLT1Ap.G93E
Missense
SNP
0.175
2--
GOLT1B-
-
-
-
1Loss-
GOSR1-
-
-
-
1Loss-
GOT1-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GP2-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPAM-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPATCH3-
-
-
-
3Gain-
GPATCH8-
-
-
-
1Loss-
GPBP1L1-
-
-
-
3Gain-
GPC5-
-
-
-
1Loss-
GPC6p.R524Q
Missense
SNP
0.655
1Loss-
GPHA2-
-
-
-
1Loss-
GPN2-
-
-
-
3Gain-
GPR12-
-
-
-
1Loss-
GPR137-
-
-
-
1Loss-
GPR139-
-
-
-
1Loss-
GPR142-
-
-
-
3Gain-
GPR148-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR151p.P169L
Missense
SNP
0.424
2--
GPR152-
-
-
-
1Loss-
GPR153-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR157-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR160-
-
-
-
3Gain-
GPR162-
-
-
-
1Loss-
GPR17-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR179-
-
-
-
1Loss-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR26-
-
-
-
1Loss-
GPR3-
-
-
-
3Gain-
GPR39-
-
-
-
3Gain-
GPR61-
-
-
-
6Amp-
GPR83-
-
-
-
1Loss-
GPR87-
-
-
-
3Gain-
GPR88-
-
-
-
5Amp-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5A-
-
-
-
1Loss-
GPRC5B-
-
-
-
1Loss-
GPRC5C-
-
-
-
3Gain-
GPRC5D-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPSM2-
-
-
-
6Amp-
GPX6p.G44E
Missense
SNP
0.291
2--
GPX7-
-
-
-
3Gain-
GRAMD1B-
-
-
-
1Loss-
GRAMD1C-
-
-
-
3Gain-
GRAMD2A-
-
-
-
1Loss-
GRAMD3p.E137K
Missense
SNP
0.206
NDND-
GRAMD4-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRB2-
-
-
-
3Gain-
GRB7-
-
-
-
1Loss-
GREB1L-
-
-
-
3Gain-
GRHL3-
-
-
-
3Gain-
GRIA1p.G908E
Missense
SNP
0.167
1Loss-
GRIA4-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRIK2p.R458*
Nonsense
SNP
0.429
2--
GRIK3-
-
-
-
3Gain-
GRIK4-
-
-
-
1Loss-
GRIN2A-
-
-
-
3Gain-
GRIN2B-
-
-
-
1Loss-
GRIN2C-
-
-
-
3Gain-
GRK1-
-
-
-
1Loss-
GRK2-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM5-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRN-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDMA-
-
-
-
1Loss-
GSDMB-
-
-
-
1Loss-
GSDMCp.R40Q
Missense
SNP
0.270
2--
GSG1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSK3B-
-
-
-
3Gain-
GSPT1-
-
-
-
8Amp-
GSTCD-
-
-
-
1Loss-
GSTM2-
-
-
-
6Amp-
GSTM3-
-
-
-
6Amp-
GSTM4-
-
-
-
6Amp-
GSTM5-
-
-
-
6Amp-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTP1-
-
-
-
1Loss-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSX1-
-
-
-
1Loss-
GSX2-
-
-
-
1Loss-
GTDC1-
-
-
-
3Gain-
GTF2B-
-
-
-
6Amp-
GTF2E1-
-
-
-
3Gain-
GTF2F2-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF3A-
-
-
-
1Loss-
GTF3C1-
-
-
-
1Loss-
GTPBP1-
-
-
-
1Loss-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GTSE1-
-
-
-
1Loss-
GUCA1C-
-
-
-
3Gain-
GUCA2A-
-
-
-
3Gain-
GUCA2B-
-
-
-
3Gain-
GUCD1-
-
-
-
1Loss-
GUCY1A2-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GVQW3-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
GYPC-
-
-
-
3Gain-
GYS2p.R386Q
Missense
SNP
0.486
1Loss-
H1F0-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFJ-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H3F3B-
-
-
-
3Gain-
H3F3C-
-
-
-
1Loss-
H6PD-
-
-
-
3Gain-
HABP2-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HADH-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAO2p.E330K
Missense
SNP
0.219
4Gain-
HAP1-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HCLS1-
-
-
-
3Gain-
HCN1-
-
-
-
1Loss-
HCN2p.E598K
Missense
SNP
0.348
2--
HCN4p.P281L
Missense
SNP
0.353
1Loss-
HCRT-
-
-
-
1Loss-
HCRTR1-
-
-
-
3Gain-
HDAC1-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDAC5-
-
-
-
1Loss-
HDDC3-
-
-
-
3Gain-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD5-
-
-
-
1Loss-
HEATR6-
-
-
-
3Gain-
HEATR9-
-
-
-
1Loss-
HEBP1-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECTD3-
-
-
-
3Gain-
HEG1-
-
-
-
3Gain-
HELLS-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELZ-
-
-
-
3Gain-
HELZ2p.Q369H
Missense
SNP
0.453
2--
HENMT1-
-
-
-
6Amp-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HES1-
-
-
-
3Gain-
HES2-
-
-
-
3Gain-
HES3-
-
-
-
3Gain-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HEXA-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEXIM1-
-
-
-
1Loss-
HEXIM2-
-
-
-
1Loss-
HEYL-
-
-
-
3Gain-
HFM1-
-
-
-
5Amp-
HGD-
-
-
-
3Gain-
HHEX-
-
-
-
1Loss-
HHLA2-
-
-
-
3Gain-
HHLA3-
-
-
-
3Gain-
HIC2-
-
-
-
1Loss-
HID1-
-
-
-
3Gain-
HIF1AN-
-
-
-
1Loss-
HIGD1B-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HIKESHI-
-
-
-
1Loss-
HINFP-
-
-
-
1Loss-
HIPK1-
-
-
-
6Amp-
HIRA-
-
-
-
1Loss-
HIRIP3-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H3p.E98K
Missense
SNP
0.529
2--
HIST4H4-
-
-
-
1Loss-
HIVEP3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HLF-
-
-
-
3Gain-
HLTF-
-
-
-
3Gain-
HMBS-
-
-
-
1Loss-
HMCES-
-
-
-
3Gain-
HMG20A-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGB4-
-
-
-
3Gain-
HMGCL-
-
-
-
3Gain-
HMGCLL1p.E67K
Missense
SNP
0.455
2--
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
1Loss-
HMGCS2-
-
-
-
4Gain-
HMGN2-
-
-
-
3Gain-
HMGXB4-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF1B-
-
-
-
1Loss-
HNMT-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
3Gain-
HNRNPCL2p.S13F
Missense
SNP
0.650
3Gain-
HNRNPCL3-
-
-
-
3Gain-
HNRNPCL4-
-
-
-
3Gain-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPR-
-
-
-
3Gain-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOOK1-
-
-
-
3Gain-
HOPX-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HORMAD2-
-
-
-
1Loss-
HP1BP3-
-
-
-
3Gain-
HPCA-
-
-
-
3Gain-
HPCAL4-
-
-
-
3Gain-
HPDL-
-
-
-
3Gain-
HPGDS-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HPS4-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HRp.R139W
Missense
SNP
0.303
2--
HRASLS-
-
-
-
3Gain-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRGp.P317L
Missense
SNP
0.324
3Gain-
HRH4-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS2ST1-
-
-
-
3Gain-
HS3ST2-
-
-
-
1Loss-
HS3ST3A1p.G369S
Missense
SNP
0.472
2--
HS3ST4-
-
-
-
1Loss-
HS3ST6-
-
-
-
1Loss-
HS6ST1-
-
-
-
3Gain-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD17B1-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD3B1-
-
-
-
4Gain-
HSD3B2-
-
-
-
4Gain-
HSD3B7-
-
-
-
1Loss-
HSF5-
-
-
-
3Gain-
HSPA12A-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPB11-
-
-
-
3Gain-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB7-
-
-
-
3Gain-
HSPB9-
-
-
-
1Loss-
HSPBAP1-
-
-
-
3Gain-
HSPG2-
-
-
-
3Gain-
HSPH1-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1D-
-
-
-
3Gain-
HTR2A-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR6-
-
-
-
3Gain-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HYI-
-
-
-
3Gain-
HYKK-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IAPP-
-
-
-
1Loss-
IBSP-
-
-
-
1Loss-
ICAM2-
-
-
-
3Gain-
ICMT-
-
-
-
3Gain-
ID3-
-
-
-
3Gain-
IDE-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFFO1-
-
-
-
1Loss-
IFFO2-
-
-
-
3Gain-
IFI35-
-
-
-
1Loss-
IFI44-
-
-
-
3Gain-
IFI44L-
-
-
-
3Gain-
IFI6-
-
-
-
3Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFNG-
-
-
-
3Gain-
IFNGR1-
-
-
-
2-EIF4G2--IFNGR1
IFNLR1-
-
-
-
3Gain-
IFT122-
-
-
-
3Gain-
IFT20-
-
-
-
1Loss-
IFT27-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT57-
-
-
-
3Gain-
IFT88-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGFBP4-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGHMBP2-
-
-
-
1Loss-
IGHV3OR16-9-
-
-
-
1Loss-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF21-
-
-
-
3Gain-
IGSF3-
-
-
-
5Amp-
IGSF6-
-
-
-
1Loss-
IGSF9B-
-
-
-
1Loss-
IKBIP-
-
-
-
3Gain-
IKZF3-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL12RB2-
-
-
-
3Gain-
IL15RA-
-
-
-
1Loss-
IL16-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL17RA-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL18-
-
-
-
1Loss-
IL18BP-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL2-
-
-
-
1Loss-
IL20RB-
-
-
-
3Gain-
IL21-
-
-
-
1Loss-
IL21R-
-
-
-
1Loss-
IL22-
-
-
-
3Gain-
IL22RA1-
-
-
-
3Gain-
IL23R-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL27-
-
-
-
1Loss-
IL2RA-
-
-
-
1Loss-
IL2RB-
-
-
-
1Loss-
IL32-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL7R-
-
-
-
1Loss-
ILDR1p.E534K
Missense
SNP
0.250
3Gain-
ILF2-
-
-
-
3Gain-
IMP3-
-
-
-
1Loss-
IMP4-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPG2-
-
-
-
3Gain-
INA-
-
-
-
1Loss-
INCENP-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
ING4-
-
-
-
1Loss-
INHBB-
-
-
-
3Gain-
INKA2-
-
-
-
6Amp-
INO80C-
-
-
-
1Loss-
INO80E-
-
-
-
1Loss-
INPP4Bp.P582S
Missense
SNP
0.520
2--
INPP5A-
-
-
-
1Loss-
INPP5B-
-
-
-
3Gain-
INPP5F-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INPPL1-
-
-
-
1Loss-
INSL5-
-
-
-
3Gain-
INSYN1-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS11-
-
-
-
3Gain-
INTS12-
-
-
-
1Loss-
INTS13-
-
-
-
1Loss-
INTS2-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS4-
-
-
-
1Loss-
INTS5-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO13-
-
-
-
3Gain-
IPO5-
-
-
-
1Loss-
IPO8-
-
-
-
1Loss-
IPP-
-
-
-
3Gain-
IQCB1-
-
-
-
3Gain-
IQCC-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCK-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQSEC3-
-
-
-
1Loss-
IREB2-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
ISG15p.S146G
Missense
SNP
0.169
3Gain-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM2p.A472T
Missense
SNP
0.452
2--
ISX-
-
-
-
1Loss-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITFG2-
-
-
-
1Loss-
ITGA10-
-
-
-
3Gain-
ITGA2B-
-
-
-
1Loss-
ITGA8p.E164K
Missense
SNP
0.571
1Loss-
ITGAD-
-
-
-
1Loss-
ITGAL-
-
-
-
1Loss-
ITGAMp.R842Q
Missense
SNP
0.306
1Loss-
ITGAX-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB3BP-
-
-
-
3Gain-
ITGB4-
-
-
-
3Gain-
ITGB5-
-
-
-
3Gain-
ITGBL1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH5-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPR2-
-
-
-
1Loss-
ITPRIP-
-
-
-
1Loss-
IWS1-
-
-
-
3Gain-
IZUMO1R-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JAK1-
-
-
-
3Gain-
JAKMIP3-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JCAD-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD6-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JPT1-
-
-
-
3Gain-
JRKL-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUN-
-
-
-
3Gain-
JUP-
-
-
-
1Loss-
KALRN-
-
-
-
3Gain-
KANK4-
-
-
-
3Gain-
KANSL1-
-
-
-
1Loss-
KAT2A-
-
-
-
1Loss-
KAT5-
-
-
-
1Loss-
KAT8-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZN-
-
-
-
3Gain-
KBTBD12-
-
-
-
3Gain-
KBTBD3-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KCNA1-
-
-
-
1Loss-
KCNA10-
-
-
-
6Amp-
KCNA2-
-
-
-
6Amp-
KCNA3-
-
-
-
6Amp-
KCNA5-
-
-
-
1Loss-
KCNA6-
-
-
-
1Loss-
KCNAB2-
-
-
-
3Gain-
KCNC2-
-
-
-
3Gain-
KCNC4-
-
-
-
6Amp-
KCND3-
-
-
-
6Amp-
KCNE3-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNH1p.G845E
Missense
SNP
0.266
2--
KCNH4-
-
-
-
1Loss-
KCNH6-
-
-
-
3Gain-
KCNIP2-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ16-
-
-
-
3Gain-
KCNJ2-
-
-
-
3Gain-
KCNJ4-
-
-
-
1Loss-
KCNJ5-
-
-
-
1Loss-
KCNJ8-
-
-
-
1Loss-
KCNK18-
-
-
-
1Loss-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNMA1p.Q1184*
Nonsense
SNP
0.250
2--
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNQ2p.P415S
Missense
SNP
0.349
2--
KCNQ4-
-
-
-
3Gain-
KCNQ5-
-
-
-
3Gain-
KCNRG-
-
-
-
1Loss-
KCNV1p.E442K
Missense
SNP
0.450
2--
KCTD12-
-
-
-
1Loss-
KCTD13-
-
-
-
1Loss-
KCTD14-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD2-
-
-
-
3Gain-
KCTD21-
-
-
-
1Loss-
KCTD4-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDELC2-
-
-
-
1Loss-
KDELR3-
-
-
-
1Loss-
KDF1-
-
-
-
3Gain-
KDM1A-
-
-
-
3Gain-
KDM2A-
-
-
-
1Loss-
KDM4A-
-
-
-
3Gain-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM5A-
-
-
-
1Loss-
KDM8-
-
-
-
1Loss-
KDR-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KERA-
-
-
-
3Gain-
KHDC1-
-
-
-
3Gain-
KHDC1L-
-
-
-
3Gain-
KHDC3L-
-
-
-
3Gain-
KHDRBS1-
-
-
-
3Gain-
KIAA0100-
-
-
-
1Loss-
KIAA0319L-
-
-
-
3Gain-
KIAA0556-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0930-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1217-
-
-
-
1Loss-
KIAA1257p.D215N
Missense
SNP
0.413
3Gain-
KIAA1324-
-
-
-
6Amp-
KIAA1328-
-
-
-
1Loss-
KIAA1522-
-
-
-
3Gain-
KIAA1551-
-
-
-
1Loss-
KIAA1671-
-
-
-
1Loss-
KIAA2013-
-
-
-
3Gain-
KIF11-
-
-
-
1Loss-
KIF17-
-
-
-
3Gain-
KIF18B-
-
-
-
1Loss-
KIF19-
-
-
-
3Gain-
KIF1B-
-
-
-
3Gain-
KIF20B-
-
-
-
1Loss-
KIF22-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF2C-
-
-
-
3Gain-
KIF4B-
-
-
-
1Loss-
KIF5B-
-
-
-
1Loss-
KIN-
-
-
-
1Loss-
KIR2DS4p.R205L
Missense
SNP
0.440
NDND-
KIRREL3-
-
-
-
1Loss-
KIT-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLC2-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF17-
-
-
-
3Gain-
KLF5-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLHDC7A-
-
-
-
3Gain-
KLHDC7B-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL10-
-
-
-
1Loss-
KLHL11-
-
-
-
1Loss-
KLHL14-
-
-
-
3Gain-
KLHL17-
-
-
-
3Gain-
KLHL21-
-
-
-
3Gain-
KLHL22-
-
-
-
1Loss-
KLHL24-
-
-
-
3Gain-
KLHL25-
-
-
-
3Gain-
KLHL35-
-
-
-
1Loss-
KLHL42-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLK14p.S186F
Missense
SNP
0.269
2--
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRK1-
-
-
-
1Loss-
KMT2A-
-
-
-
1Loss-
KMT2Cp.S4626N
Missense
SNP
0.400
2--
KMT5B-
-
-
-
1Loss-
KNCN-
-
-
-
3Gain-
KNDC1p.G1451S
Missense
SNP
0.179
1Loss-
KNG1-
-
-
-
3Gain-
KNOP1-
-
-
-
1Loss-
KPNA1-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNA6-
-
-
-
3Gain-
KPNA7p.L247F
Missense
SNP
0.365
2--
KRAS-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KREMEN2-
-
-
-
1Loss-
KRR1-
-
-
-
3Gain-
KRT10-
-
-
-
1Loss-
KRT12-
-
-
-
1Loss-
KRT13-
-
-
-
1Loss-
KRT14-
-
-
-
1Loss-
KRT15-
-
-
-
1Loss-
KRT16-
-
-
-
1Loss-
KRT17-
-
-
-
1Loss-
KRT19-
-
-
-
1Loss-
KRT20-
-
-
-
1Loss-
KRT222-
-
-
-
1Loss-
KRT23p.E346K
Missense
SNP
0.696
1Loss-
KRT24-
-
-
-
1Loss-
KRT25-
-
-
-
1Loss-
KRT26-
-
-
-
1Loss-
KRT27-
-
-
-
1Loss-
KRT28-
-
-
-
1Loss-
KRT31-
-
-
-
1Loss-
KRT32-
-
-
-
1Loss-
KRT33A-
-
-
-
1Loss-
KRT33B-
-
-
-
1Loss-
KRT34-
-
-
-
1Loss-
KRT35-
-
-
-
1Loss-
KRT36-
-
-
-
1Loss-
KRT37-
-
-
-
1Loss-
KRT38-
-
-
-
1Loss-
KRT39-
-
-
-
1Loss-
KRT40-
-
-
-
1Loss-
KRT74p.G100E
Missense
SNP
0.458
2--
KRT84p.E294K
Missense
SNP
0.275
2--
KRT9-
-
-
-
1Loss-
KRTAP1-1-
-
-
-
1Loss-
KRTAP1-3-
-
-
-
1Loss-
KRTAP1-5-
-
-
-
1Loss-
KRTAP16-1-
-
-
-
1Loss-
KRTAP17-1-
-
-
-
1Loss-
KRTAP29-1-
-
-
-
1Loss-
KRTAP3-1-
-
-
-
1Loss-
KRTAP3-2-
-
-
-
1Loss-
KRTAP3-3-
-
-
-
1Loss-
KRTAP4-1-
-
-
-
1Loss-
KRTAP4-11-
-
-
-
1Loss-
KRTAP4-12-
-
-
-
1Loss-
KRTAP4-16-
-
-
-
1Loss-
KRTAP4-2-
-
-
-
1Loss-
KRTAP4-3-
-
-
-
1Loss-
KRTAP4-4-
-
-
-
1Loss-
KRTAP4-5-
-
-
-
1Loss-
KRTAP4-6-
-
-
-
1Loss-
KRTAP4-7-
-
-
-
1Loss-
KRTAP4-8-
-
-
-
1Loss-
KRTAP4-9-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTAP9-1-
-
-
-
1Loss-
KRTAP9-2-
-
-
-
1Loss-
KRTAP9-3-
-
-
-
1Loss-
KRTAP9-4-
-
-
-
1Loss-
KRTAP9-6-
-
-
-
1Loss-
KRTAP9-7-
-
-
-
1Loss-
KRTAP9-8-
-
-
-
1Loss-
KRTAP9-9-
-
-
-
1Loss-
KSR1p.P290S
Missense
SNP
0.882
1Loss-
KTI12-
-
-
-
3Gain-
KY-
-
-
-
3Gain-
KYAT3-
-
-
-
6Amp-
KYNU-
-
-
-
3Gain-
L1TD1-
-
-
-
3Gain-
L3MBTL2-
-
-
-
1Loss-
LACC1-
-
-
-
1Loss-
LACTBL1-
-
-
-
3Gain-
LAG3-
-
-
-
1Loss-
LAMA3-
-
-
-
3Gain-
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAMTOR1-
-
-
-
1Loss-
LAMTOR3-
-
-
-
1Loss-
LAMTOR5-
-
-
-
6Amp-
LAPTM5-
-
-
-
3Gain-
LARGE1-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LARP6-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LASP1-
-
-
-
1Loss-
LAT-
-
-
-
1Loss-
LATS2-
-
-
-
1Loss-
LAYN-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LCK-
-
-
-
3Gain-
LCMT1-
-
-
-
1Loss-
LCN9p.E98K
Missense
SNP
0.368
2--
LCOR-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCT-
-
-
-
3Gain-
LDB1-
-
-
-
1Loss-
LDHB-
-
-
-
1Loss-
LDLRAD1-
-
-
-
3Gain-
LDLRAD2-
-
-
-
3Gain-
LDLRAP1-
-
-
-
3Gain-
LEF1-
-
-
-
1Loss-
LEPR-
-
-
-
3Gain-
LEPROT-
-
-
-
3GainLEPROT--AL662899.2
LEXM-
-
-
-
3Gain-
LGALS1-
-
-
-
1Loss-
LGALS12-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS9-
-
-
-
1Loss-
LGALS9Bp.G80E
Missense
SNP
0.574
2--
LGI1-
-
-
-
1Loss-
LGSNp.D322N
Missense
SNP
0.364
2--
LHFPL2-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LHX1-
-
-
-
1Loss-
LHX8-
-
-
-
3Gain-
LIF-
-
-
-
1Loss-
LIFR-
-
-
-
1Loss-
LIG3-
-
-
-
1Loss-
LIG4-
-
-
-
1Loss-
LILRB4p.D61N
Missense
SNP
0.323
2--
LIMD2-
-
-
-
3Gain-
LIMK2-
-
-
-
1Loss-
LIMS2-
-
-
-
3Gain-
LIN28A-
-
-
-
3Gain-
LIN54-
-
-
-
1Loss-
LINC02203-
-
-
-
1Loss-
LINC02210-CRHR1-
-
-
-
1Loss-
LINGO1-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
3Gain-
LIPA-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LIPT2-
-
-
-
1Loss-
LITAF-
-
-
-
8Amp-
LIX1-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LLGL2-
-
-
-
3Gain-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMBRD1-
-
-
-
1Loss-
LMBRD2-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMNTD1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMO4-
-
-
-
3Gain-
LMO7-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LNX1-
-
-
-
1Loss-
LNX2-
-
-
-
1Loss-
LOXHD1p.P10S
Missense
SNP
0.318
1Loss-
LOXL1-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPAR3-
-
-
-
3Gain-
LPAR5-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPCAT3-
-
-
-
1Loss-
LPO-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LPXN-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRCH3p.L613F
Missense
SNP
0.679
3Gain-
LRFN4-
-
-
-
1Loss-
LRIF1-
-
-
-
6Amp-
LRIG2-
-
-
-
6Amp-
LRIT3-
-
-
-
1Loss-
LRMP-
-
-
-
1Loss-
LRP1p.P776H
Missense
SNP
0.444
2--
LRP1Bp.R855K
p.G649E
Missense
Missense
SNP
SNP
0.336
0.416
3Gain-
LRP2p.R4065Q
Missense
SNP
0.379
2--
LRP5-
-
-
-
1Loss-
LRP5L-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRP8-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC10B-
-
-
-
1Loss-
LRRC15-
-
-
-
3Gain-
LRRC20-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC28-
-
-
-
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC32-
-
-
-
1Loss-
LRRC34-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC37A3-
-
-
-
3Gain-
LRRC37B-
-
-
-
1Loss-
LRRC38-
-
-
-
3Gain-
LRRC39-
-
-
-
5Amp-
LRRC3C-
-
-
-
1Loss-
LRRC40-
-
-
-
3Gain-
LRRC41-
-
-
-
3Gain-
LRRC42-
-
-
-
3Gain-
LRRC47-
-
-
-
3Gain-
LRRC49-
-
-
-
1Loss-
LRRC53-
-
-
-
3Gain-
LRRC55-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC66p.E605K
Missense
SNP
0.531
1Loss-
LRRC7p.S797L
p.P870Q
Missense
Missense
SNP
SNP
0.162
0.152
3Gain-
LRRC70-
-
-
-
1Loss-
LRRC74B-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC8B-
-
-
-
6Amp-
LRRC8C-
-
-
-
6Amp-
LRRC8D-
-
-
-
6Amp-
LRRIQ1-
-
-
-
1Loss-
LRRIQ3-
-
-
-
3Gain-
LRRIQ4-
-
-
-
3Gain-
LRRK1-
-
-
-
3Gain-
LRRN1-
-
-
-
1Loss-
LRRN4CL-
-
-
-
1Loss-
LRTM2-
-
-
-
1Loss-
LRTOMT-
-
-
-
1Loss-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM10-
-
-
-
3Gain-
LSM11-
-
-
-
1Loss-
LSM12-
-
-
-
1Loss-
LSSp.S408L
Missense
SNP
0.453
2--
LTBP3-
-
-
-
1Loss-
LTBR-
-
-
-
1Loss-
LTO1-
-
-
-
1Loss-
LUM-
-
-
-
3Gain-
LURAP1-
-
-
-
3Gain-
LUZP1-
-
-
-
3Gain-
LYPD1-
-
-
-
3Gain-
LYPD3p.T256I
Missense
SNP
0.281
2--
LYPLA2-
-
-
-
3Gain-
LYRM1-
-
-
-
1Loss-
LYRM9-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
3Gain-
LYZ-
-
-
-
3Gain-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LYZL6-
-
-
-
1Loss-
LZIC-
-
-
-
3Gain-
LZTR1-
-
-
-
1Loss-
LZTS2-
-
-
-
1Loss-
M6PR-
-
-
-
1Loss-
MAATS1-
-
-
-
3Gain-
MAB21L1-
-
-
-
1Loss-
MAB21L3-
-
-
-
8Amp-
MACF1-
-
-
-
3Gain-
MACO1-
-
-
-
3Gain-
MACROD1-
-
-
-
1Loss-
MAD2L1-
-
-
-
1Loss-
MAD2L2-
-
-
-
3Gain-
MAF1p.Y32C
Missense
SNP
0.203
2--
MAFF-
-
-
-
1Loss-
MAGEC1p.P131S
Missense
SNP
0.486
NDND-
MAGEF1-
-
-
-
3Gain-
MAGI3-
-
-
-
6Amp-
MAGOH-
-
-
-
3Gain-
MAGOHB-
-
-
-
1Loss-
MAJIN-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAML2-
-
-
-
1Loss-
MAN1A2-
-
-
-
5Amp-
MAN1C1-
-
-
-
3Gain-
MAN2A2p.D153N
Missense
SNP
0.095
3Gain-
MAN2C1-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MANEAL-
-
-
-
3Gain-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP2K6-
-
-
-
3Gain-
MAP3K1p.S992F
Missense
SNP
0.169
2--
MAP3K11-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K14-
-
-
-
1Loss-
MAP3K19-
-
-
-
3Gain-
MAP3K2-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP3K6-
-
-
-
3Gain-
MAP3K8-
-
-
-
1Loss-
MAP4K2-
-
-
-
1Loss-
MAP6-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAP7D1-
-
-
-
3Gain-
MAPK1-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK3-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPK9p.S392L
Missense
SNP
0.375
2--
MAPRE2-
-
-
-
1Loss-
MAPT-
-
-
-
1Loss-
MARCH10-
-
-
-
3Gain-
MARCH5-
-
-
-
1Loss-
MARCKSL1-
-
-
-
3Gain-
MARF1-
-
-
-
10Amp-
MARK2-
-
-
-
1Loss-
MARVELD1-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MASP1p.R637C
Missense
SNP
0.582
3Gain-
MASP2-
-
-
-
3Gain-
MAST2-
-
-
-
3Gain-
MAST4p.P825S
Missense
SNP
0.280
1Loss-
MASTL-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATN1-
-
-
-
3Gain-
MAZ-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD4-
-
-
-
3Gain-
MBLAC2-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCAT-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCCC2-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCF2L2-
-
-
-
3Gain-
MCHR1-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
3Gain-
MCM5-
-
-
-
1Loss-
MCM6-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
MCOLN2-
-
-
-
3Gain-
MCOLN3-
-
-
-
3Gain-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
3Gain-
MCUB-
-
-
-
1Loss-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
ME2-
-
-
-
1Loss-
ME3-
-
-
-
1Loss-
MEAF6-
-
-
-
3Gain-
MECOM-
-
-
-
3Gain-
MECR-
-
-
-
3Gain-
MED1-
-
-
-
1Loss-
MED12L-
-
-
-
3Gain-
MED13-
-
-
-
3Gain-
MED15-
-
-
-
1Loss-
MED16p.F155L
Missense
SNP
0.333
2--
MED17-
-
-
-
1Loss-
MED18-
-
-
-
3Gain-
MED19-
-
-
-
1Loss-
MED21-
-
-
-
1Loss-
MED24-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED8-
-
-
-
3Gain-
MEDAG-
-
-
-
1Loss-
MEF2A-
-
-
-
3Gain-
MEF2C-
-
-
-
1Loss-
MEFV-
-
-
-
1Loss-
MEGF6-
-
-
-
3Gain-
MEGF8p.S1160F
Missense
SNP
0.241
2--
MEI1-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MEIOC-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEN1-
-
-
-
1Loss-
MEOX1-
-
-
-
1Loss-
MEP1B-
-
-
-
3Gain-
MEPEp.D371N
Missense
SNP
0.634
1Loss-
MESD-
-
-
-
1Loss-
METAP1-
-
-
-
1Loss-
METTL14-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL22-
-
-
-
1Loss-
METTL23-
-
-
-
3Gain-
METTL25-
-
-
-
1Loss-
METTL2A-
-
-
-
3Gain-
METTL9-
-
-
-
1Loss-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP2-
-
-
-
3Gain-
MFAP3-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFN1-
-
-
-
3Gain-
MFN2-
-
-
-
3Gain-
MFNG-
-
-
-
1Loss-
MFRP-
-
-
-
1Loss-
MFSD11-
-
-
-
3Gain-
MFSD13A-
-
-
-
1Loss-
MFSD14A-
-
-
-
5Amp-
MFSD2A-
-
-
-
3Gain-
MFSD6L-
-
-
-
1Loss-
MFSD8-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGAT5-
-
-
-
3Gain-
MGAT5B-
-
-
-
3Gain-
MGLL-
-
-
-
3Gain-
MGMT-
-
-
-
1Loss-
MGP-
-
-
-
1Loss-
MGRN1-
-
-
-
1Loss-
MGST1-
-
-
-
1Loss-
MIB2-
-
-
-
3Gain-
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICU2-
-
-
-
1Loss-
MIEF1-
-
-
-
1Loss-
MIEN1-
-
-
-
1Loss-
MIER1-
-
-
-
3Gain-
MIF-
-
-
-
1Loss-
MIF4GD-
-
-
-
3Gain-
MIGA1-
-
-
-
3Gain-
MIIP-
-
-
-
3Gain-
MILR1-
-
-
-
3Gain-
MINDY1-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MINDY4B-
-
-
-
3Gain-
MINOS1-
-
-
-
3Gain-
MINOS1-NBL1-
-
-
-
3Gain-
MIOX-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKNK1-
-
-
-
3Gain-
MKS1-
-
-
-
3Gain-
MKX-
-
-
-
1Loss-
MLC1-
-
-
-
1Loss-
MLF2-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLLT6-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLST8-
-
-
-
1Loss-
MLX-
-
-
-
1Loss-
MMACHC-
-
-
-
3Gain-
MMD-
-
-
-
3Gain-
MMEL1-
-
-
-
3Gain-
MMP1p.P266S
Missense
SNP
0.580
1Loss-
MMP10-
-
-
-
1Loss-
MMP11-
-
-
-
1Loss-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP20-
-
-
-
1Loss-
MMP21-
-
-
-
1Loss-
MMP23B-
-
-
-
3Gain-
MMP25-
-
-
-
1Loss-
MMP27-
-
-
-
1Loss-
MMP28-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB3C-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOGAT2-
-
-
-
1Loss-
MORC1-
-
-
-
3Gain-
MORC2-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MORN1-
-
-
-
3Gain-
MORN4-
-
-
-
1Loss-
MOSMO-
-
-
-
1Loss-
MOV10-
-
-
-
6Amp-
MOV10L1p.D697N
Missense
SNP
0.224
1Loss-
MPEG1-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPL-
-
-
-
3Gain-
MPO-
-
-
-
3Gain-
MPP2-
-
-
-
1Loss-
MPP3-
-
-
-
1Loss-
MPP7-
-
-
-
1Loss-
MPPED1-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MPV17L-
-
-
-
8Amp-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRC1-
-
-
-
1Loss-
MRC2-
-
-
-
3Gain-
MRE11-
-
-
-
1Loss-
MRGPRD-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRM1-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2Bp.V109F
Missense
SNP
0.250
1Loss-
MROH7-
-
-
-
3Gain-
MROH7-TTC4-
-
-
-
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL11-
-
-
-
1Loss-
MRPL16-
-
-
-
1Loss-
MRPL20-
-
-
-
3Gain-
MRPL21-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL3-
-
-
-
3Gain-
MRPL37-
-
-
-
3Gain-
MRPL38-
-
-
-
3Gain-
MRPL40-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL45-
-
-
-
1Loss-
MRPL47-
-
-
-
3Gain-
MRPL48-
-
-
-
1Loss-
MRPL49-
-
-
-
1Loss-
MRPL51-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPL58-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS15-
-
-
-
3Gain-
MRPS18C-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS22-
-
-
-
3Gain-
MRPS23-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS30-
-
-
-
1Loss-
MRPS31-
-
-
-
1Loss-
MRPS35-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS7-
-
-
-
3Gain-
MRTFA-
-
-
-
1Loss-
MRTFB-
-
-
-
8Amp-
MRTO4-
-
-
-
3Gain-
MS4A1p.E205K
Missense
SNP
0.262
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14-
-
-
-
1Loss-
MS4A15-
-
-
-
1Loss-
MS4A18-
-
-
-
1Loss-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4A-
-
-
-
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
1Loss-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
1Loss-
MS4A7-
-
-
-
1Loss-
MS4A8-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSH4-
-
-
-
3Gain-
MSI2-
-
-
-
3Gain-
MSL1-
-
-
-
1Loss-
MSL2-
-
-
-
3Gain-
MSRB1-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MTA2-
-
-
-
1Loss-
MTF1-
-
-
-
3Gain-
MTF2-
-
-
-
6Amp-
MTFP1-
-
-
-
1Loss-
MTFR1L-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTHFD2L-
-
-
-
1Loss-
MTHFR-
-
-
-
3Gain-
MTHFS-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR11p.Q631*
Nonsense
SNP
0.103
3Gain-
MTMR12-
-
-
-
1Loss-
MTMR2-
-
-
-
1Loss-
MTMR3-
-
-
-
1Loss-
MTMR4-
-
-
-
3Gain-
MTMR6-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTO1-
-
-
-
3Gain-
MTOR-
-
-
-
3Gain-
MTPAP-
-
-
-
1Loss-
MTRp.R1132W
Missense
SNP
0.415
2--
MTRF1-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTUS2-
-
-
-
1Loss-
MTX3-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC16p.M11191I
p.E7661K
p.A6186T
p.G431E
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.243
0.466
0.370
0.316
2--
MUC20-
-
-
-
3Gain-
MUC4-
-
-
-
3Gain-
MUC7-
-
-
-
1Loss-
MUL1-
-
-
-
3Gain-
MUS81-
-
-
-
1Loss-
MUSKp.R189Q
Missense
SNP
0.339
2--
MUTYH-
-
-
-
3Gain-
MVP-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MXRA7-
-
-
-
3Gain-
MXRA8-
-
-
-
3Gain-
MYBPC2p.S546W
Missense
SNP
0.441
2--
MYBPHL-
-
-
-
6Amp-
MYCBP-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYCL-
-
-
-
3Gain-
MYEOV-
-
-
-
1Loss-
MYH11-
-
-
-
10Amp-
MYH15-
-
-
-
3Gain-
MYH2p.E868K
Missense
SNP
0.605
2--
MYH9-
-
-
-
1Loss-
MYLK-
-
-
-
3Gain-
MYLPF-
-
-
-
1Loss-
MYNN-
-
-
-
3Gain-
MYO15B-
-
-
-
3Gain-
MYO16-
-
-
-
1Loss-
MYO18A-
-
-
-
1Loss-
MYO18B-
-
-
-
1Loss-
MYO19-
-
-
-
1Loss-
MYO1D-
-
-
-
1Loss-
MYO3A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO6-
-
-
-
3Gain-
MYO7A-
-
-
-
1Loss-
MYO7Bp.R206C
Missense
SNP
0.244
3Gain-
MYO9A-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM3p.Q1156*
Nonsense
SNP
0.124
3Gain-
MYOZ2-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYRFL-
-
-
-
3Gain-
MYSM1-
-
-
-
3Gain-
MZT1-
-
-
-
1Loss-
MZT2A-
-
-
-
3Gain-
MZT2B-
-
-
-
3Gain-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAA60-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NACA2-
-
-
-
3Gain-
NADK-
-
-
-
3Gain-
NADK2-
-
-
-
1Loss-
NADSYN1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NAGLU-
-
-
-
1Loss-
NAGPA-
-
-
-
1Loss-
NAGS-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NAP1L1-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NARS2-
-
-
-
1Loss-
NASP-
-
-
-
3Gain-
NAT9-
-
-
-
3Gain-
NAV3p.D1198Y
Missense
SNP
0.554
3Gain-
NAXD-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBL1-
-
-
-
3Gain-
NBPF1-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
4Gain-
NBPF3-
-
-
-
3Gain-
NBPF4-
-
-
-
6Amp-
NBPF6-
-
-
-
6Amp-
NBPF9-
-
-
-
3Gain-
NBR1-
-
-
-
1Loss-
NCAM1-
-
-
-
1Loss-
NCAPD2-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCAPH2-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCDN-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCK1-
-
-
-
3Gain-
NCKAP5p.R120Q
Missense
SNP
0.311
3Gain-
NCMAP-
-
-
-
3Gain-
NCOR2p.D2496E
Missense
SNP
0.647
2--
NDC1-
-
-
-
3Gain-
NDE1-
-
-
-
10Amp-
NDFIP2-
-
-
-
1Loss-
NDNF-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA12-
-
-
-
3Gain-
NDUFA6-
-
-
-
1Loss-
NDUFA9-
-
-
-
1Loss-
NDUFAB1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFB10-
-
-
-
1Loss-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFB8-
-
-
-
1Loss-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS5-
-
-
-
3Gain-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NEBL-
-
-
-
1Loss-
NECAP1-
-
-
-
1Loss-
NECAP2-
-
-
-
3Gain-
NECTIN1-
-
-
-
1Loss-
NECTIN3-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEFH-
-
-
-
1Loss-
NEGR1-
-
-
-
3Gain-
NEIL1-
-
-
-
1Loss-
NEK11-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK8-
-
-
-
1Loss-
NEO1-
-
-
-
1Loss-
NEPRO-
-
-
-
3Gain-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NEUROD2-
-
-
-
1Loss-
NEUROG2-
-
-
-
1Loss-
NEXN-
-
-
-
3Gain-
NF1p.G2001E
Missense
SNP
0.829
1Loss-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFASCp.E111K
Missense
SNP
0.267
2--
NFAT5p.S719N
Missense
SNP
0.309
2--
NFATC1-
-
-
-
1Loss-
NFATC2IP-
-
-
-
1Loss-
NFIA-
-
-
-
3Gain-
NFKB1-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIZ-
-
-
-
3Gain-
NFRKB-
-
-
-
1Loss-
NFYC-
-
-
-
3Gain-
NGF-
-
-
-
8Amp-
NHLH2-
-
-
-
8Amp-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NIFK-
-
-
-
3Gain-
NIM1K-
-
-
-
1Loss-
NINJ2-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPAL3-
-
-
-
3Gain-
NIPAL4-
-
-
-
1Loss-
NIPBL-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
1Loss-
NIT2-
-
-
-
3Gain-
NKAIN1-
-
-
-
3Gain-
NKAPD1-
-
-
-
1Loss-
NKIRAS2-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLE1-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLK-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRC3-
-
-
-
1Loss-
NLRP14p.G434R
Missense
SNP
0.437
2--
NLRX1-
-
-
-
1Loss-
NMB-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT1-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMRAL1-
-
-
-
1Loss-
NMT1-
-
-
-
1Loss-
NMT2-
-
-
-
1Loss-
NMU-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NNT-
-
-
-
1Loss-
NOA1-
-
-
-
1Loss-
NOC2L-
-
-
-
3Gain-
NOC3L-
-
-
-
1Loss-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL12-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL9-
-
-
-
3Gain-
NOLC1-
-
-
-
1Loss-
NOMO1-
-
-
-
8Amp-
NOMO2-
-
-
-
4Gain-
NOMO3-
-
-
-
8Amp-
NOP2-
-
-
-
1Loss-
NOS2-
-
-
-
1Loss-
NOS3p.S44F
Missense
SNP
0.318
2--
NOTCH1p.Q300*
Nonsense
SNP
0.592
2--
NOTCH2-
-
-
-
4Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH3p.R1036*
Nonsense
SNP
0.500
2--
NOX4-
-
-
-
1Loss-
NOXO1-
-
-
-
1Loss-
NPAS4-
-
-
-
1Loss-
NPAT-
-
-
-
1Loss-
NPC1-
-
-
-
3Gain-
NPFFR1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPHP4-
-
-
-
3Gain-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB2-
-
-
-
8Amp-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPM3-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPA-
-
-
-
3Gain-
NPPB-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPR3-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPTN-
-
-
-
1Loss-
NPTXR-
-
-
-
1Loss-
NPW-
-
-
-
1Loss-
NPY1Rp.P223L
Missense
SNP
0.253
2--
NR0B2-
-
-
-
3Gain-
NR1D1-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2E3-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NRAP-
-
-
-
1Loss-
NRASp.G13D
Missense
SNP
0.843
8Amp-
NRDC-
-
-
-
3Gain-
NRG4-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP2-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRXN1p.P1413L
Missense
SNP
0.210
2--
NRXN2-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSF-
-
-
-
1Loss-
NSMCE1-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSRP1-
-
-
-
1Loss-
NSUN3-
-
-
-
3Gain-
NSUN4-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NT5C-
-
-
-
3Gain-
NT5C1A-
-
-
-
3Gain-
NT5C2-
-
-
-
1Loss-
NT5C3B-
-
-
-
1Loss-
NTAN1-
-
-
-
8Amp-
NTF3-
-
-
-
1Loss-
NTHL1-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN3-
-
-
-
1Loss-
NTNG1-
-
-
-
6Amp-
NUBP1-
-
-
-
8Amp-
NUDC-
-
-
-
3Gain-
NUDCD2-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
3Gain-
NUDT16L1-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT22-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUDT5-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT8-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUFIP2-
-
-
-
1Loss-
NUMA1-
-
-
-
1Loss-
NUP107-
-
-
-
3Gain-
NUP155-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP50-
-
-
-
1Loss-
NUP54-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUP85-
-
-
-
3Gain-
NUPR1-
-
-
-
1Loss-
NXF1-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NXPE4-
-
-
-
1Loss-
NXPH2-
-
-
-
3Gain-
OAF-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OCLN-
-
-
-
1Loss-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF2L-
-
-
-
3Gain-
ODF3B-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGFRL1-
-
-
-
3Gain-
OLAH-
-
-
-
1Loss-
OLFM3-
-
-
-
5Amp-
OLFM4-
-
-
-
1Loss-
OLFML3-
-
-
-
8Amp-
OLR1-
-
-
-
1Loss-
OMA1-
-
-
-
3Gain-
OMG-
-
-
-
1Loss-
OMP-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OOEP-
-
-
-
3Gain-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPN3p.S294L
Missense
SNP
0.467
2--
OPRD1-
-
-
-
3Gain-
OPRPN-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10Q1-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR13C8p.G233E
p.E273K
Missense
Missense
SNP
SNP
0.316
0.293
2--
OR1F1-
-
-
-
1Loss-
OR1G1p.H311Y
Missense
SNP
0.370
2--
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2A14p.R121C
Missense
SNP
0.259
2--
OR2AT4-
-
-
-
1Loss-
OR2C1-
-
-
-
1Loss-
OR2T8p.S8F
Missense
SNP
0.271
2--
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A5-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C6p.L61P
Missense
SNP
0.318
1Loss-
OR4D1-
-
-
-
3Gain-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D2-
-
-
-
3Gain-
OR4D5p.S217L
Missense
SNP
0.416
1Loss-
OR4D6-
-
-
-
1Loss-
OR4D9p.L85F
Missense
SNP
0.173
1Loss-
OR4F5-
-
-
-
3Gain-
OR4M2-
-
-
-
1Loss-
OR4N4-
-
-
-
1Loss-
OR4P4-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR51T1p.T27A
Missense
SNP
0.446
2--
OR5A1-
-
-
-
1Loss-
OR5A2-
-
-
-
1Loss-
OR5AC2-
-
-
-
3Gain-
OR5AK2-
-
-
-
1Loss-
OR5AN1-
-
-
-
1Loss-
OR5AP2-
-
-
-
1Loss-
OR5AR1-
-
-
-
1Loss-
OR5AS1-
-
-
-
1Loss-
OR5B12-
-
-
-
1Loss-
OR5B17-
-
-
-
1Loss-
OR5B2-
-
-
-
1Loss-
OR5B21-
-
-
-
1Loss-
OR5B3-
-
-
-
1Loss-
OR5D13-
-
-
-
1Loss-
OR5D14-
-
-
-
1Loss-
OR5D16-
-
-
-
1Loss-
OR5D18-
-
-
-
1Loss-
OR5F1-
-
-
-
1Loss-
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5I1-
-
-
-
1Loss-
OR5J2-
-
-
-
1Loss-
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4p.M198I
Missense
SNP
0.500
3Gain-
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5M1-
-
-
-
1Loss-
OR5M10-
-
-
-
1Loss-
OR5M11-
-
-
-
1Loss-
OR5M3-
-
-
-
1Loss-
OR5M8p.E21K
Missense
SNP
0.250
1Loss-
OR5M9-
-
-
-
1Loss-
OR5R1-
-
-
-
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5W2-
-
-
-
1Loss-
OR6C3p.R231K
Missense
SNP
0.432
2--
OR6M1-
-
-
-
1Loss-
OR6Q1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR7D4p.P181L
Missense
SNP
0.304
2--
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8H1-
-
-
-
1Loss-
OR8H2-
-
-
-
1Loss-
OR8H3-
-
-
-
1Loss-
OR8I2-
-
-
-
1Loss-
OR8J1p.S312F
Missense
SNP
0.174
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K1-
-
-
-
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8U1-
-
-
-
1Loss-
OR9G1-
-
-
-
1Loss-
OR9G4-
-
-
-
1Loss-
OR9I1-
-
-
-
1Loss-
OR9K2p.P291S
Missense
SNP
0.189
2--
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORAI2p.S153F
Missense
SNP
0.300
2--
ORAI3-
-
-
-
1Loss-
ORC1-
-
-
-
3Gain-
ORMDL3-
-
-
-
1Loss-
OSBP-
-
-
-
1Loss-
OSBP2-
-
-
-
1Loss-
OSBPL11-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSBPL9-
-
-
-
3Gain-
OSCP1-
-
-
-
3Gain-
OSM-
-
-
-
1Loss-
OSMR-
-
-
-
1Loss-
OSTC-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOA-
-
-
-
1Loss-
OTOL1-
-
-
-
3Gain-
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD3-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OVCH1-
-
-
-
1Loss-
OVGP1-
-
-
-
6Amp-
OVOL1-
-
-
-
1Loss-
OXCT1-
-
-
-
1Loss-
OXCT2-
-
-
-
3Gain-
OXGR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX3-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P3H1-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
P3H3-
-
-
-
1Loss-
P3H4-
-
-
-
1Loss-
P4HA3-
-
-
-
1Loss-
PAAF1-
-
-
-
1Loss-
PABPC3-
-
-
-
1Loss-
PABPC4-
-
-
-
3Gain-
PACS1-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PADI1-
-
-
-
3Gain-
PADI2-
-
-
-
3Gain-
PADI3-
-
-
-
3Gain-
PADI4-
-
-
-
3Gain-
PADI6p.P106L
Missense
SNP
0.612
3Gain-
PAFAH1B2-
-
-
-
1Loss-
PAFAH2-
-
-
-
3Gain-
PAGR1-
-
-
-
1Loss-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
1Loss-
PAK1-
-
-
-
1Loss-
PAK2-
-
-
-
3Gain-
PALB2-
-
-
-
1Loss-
PALMD-
-
-
-
5Amp-
PAM16-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PANK4-
-
-
-
3Gain-
PANX1-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPSS1-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR4-
-
-
-
1Loss-
PAQR7-
-
-
-
3Gain-
PAQR9-
-
-
-
3Gain-
PARD3-
-
-
-
1Loss-
PARD3Bp.R865K
Missense
SNP
0.350
2--
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
3Gain-
PARL-
-
-
-
3Gain-
PARM1-
-
-
-
1Loss-
PARN-
-
-
-
8Amp-
PARP11-
-
-
-
1Loss-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP4-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PARP9-
-
-
-
3Gain-
PARS2-
-
-
-
3Gain-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATJ-
-
-
-
3Gain-
PATL1-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX7-
-
-
-
3Gain-
PC-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH17-
-
-
-
1Loss-
PCDH19p.R376C
Missense
SNP
0.452
NDND-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA1p.S680L
Missense
SNP
0.233
2--
PCDHA8p.R428Q
Missense
SNP
0.200
2--
PCDHB2p.G72E
Missense
SNP
0.397
2--
PCDHB4p.G118E
Missense
SNP
0.195
2--
PCDHGA3p.R65C
Missense
SNP
0.542
2--
PCDHGA7p.S302L
Missense
SNP
0.275
2--
PCF11-
-
-
-
1Loss-
PCGF2p.E204K
Missense
SNP
0.673
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCLOp.P4663L
p.E4551K
p.E4454K
p.H4147Y
p.S2384F
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.422
0.531
0.242
0.370
0.280
2--
PCNP-
-
-
-
3Gain-
PCNX3-
-
-
-
1Loss-
PCOLCE2p.L73F
Missense
SNP
0.333
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK6-
-
-
-
3Gain-
PCSK7-
-
-
-
1Loss-
PCSK9-
-
-
-
3Gain-
PCTP-
-
-
-
3Gain-
PCYT1A-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD11-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCL2-
-
-
-
1Loss-
PDE2A-
-
-
-
1Loss-
PDE3A-
-
-
-
1Loss-
PDE4B-
-
-
-
3Gain-
PDE4DIP-
-
-
-
3Gain-
PDE5A-
-
-
-
1Loss-
PDE6Ap.G345R
Missense
SNP
0.130
2--
PDE6Bp.D65N
Missense
SNP
0.188
2--
PDE6C-
-
-
-
1Loss-
PDE6H-
-
-
-
1Loss-
PDE8A-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDGFB-
-
-
-
1Loss-
PDGFD-
-
-
-
1Loss-
PDGFRA-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDIK1L-
-
-
-
3Gain-
PDILT-
-
-
-
1Loss-
PDLIM1-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDPN-
-
-
-
3Gain-
PDS5B-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDXDC1-
-
-
-
8Amp-
PDXP-
-
-
-
1Loss-
PDZD2-
-
-
-
1Loss-
PDZD3-
-
-
-
1Loss-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZD9-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZK1IP1-
-
-
-
3Gain-
PEAK1-
-
-
-
1Loss-
PECAM1-
-
-
-
3Gain-
PEF1-
-
-
-
3Gain-
PELI2p.H388Y
Missense
SNP
0.406
2--
PELI3-
-
-
-
1Loss-
PER3-
-
-
-
3Gain-
PERM1-
-
-
-
3Gain-
PES1-
-
-
-
1Loss-
PEX10-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX12-
-
-
-
1Loss-
PEX14-
-
-
-
3Gain-
PEX26-
-
-
-
1Loss-
PEX5-
-
-
-
1Loss-
PEX5L-
-
-
-
3Gain-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFKFB3-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAP3-
-
-
-
1Loss-
PGD-
-
-
-
3Gain-
PGM1-
-
-
-
3Gain-
PGM2L1-
-
-
-
1Loss-
PGP-
-
-
-
1Loss-
PGPEP1L-
-
-
-
3Gain-
PGR-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PHACTR4-
-
-
-
3Gain-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHC2-
-
-
-
3Gain-
PHC3-
-
-
-
3Gain-
PHETA2-
-
-
-
1Loss-
PHEXp.E726K
Missense
SNP
0.632
NDND-
PHF11-
-
-
-
1Loss-
PHF12-
-
-
-
1Loss-
PHF13-
-
-
-
3Gain-
PHF21B-
-
-
-
1Loss-
PHF5A-
-
-
-
1Loss-
PHGDH-
-
-
-
4Gain-
PHKBp.R890C
Missense
SNP
0.303
2--
PHKG2-
-
-
-
1Loss-
PHLDA1-
-
-
-
3Gain-
PHLDB1-
-
-
-
1Loss-
PHLDB2-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHOX2A-
-
-
-
1Loss-
PHRF1p.P938S
Missense
SNP
0.163
2--
PHTF1-
-
-
-
6Amp-
PHYH-
-
-
-
1Loss-
PI4K2A-
-
-
-
1Loss-
PI4KA-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
3Gain-
PIBF1-
-
-
-
1Loss-
PICALM-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PIF1p.A600V
Missense
SNP
0.333
2--
PIFO-
-
-
-
6Amp-
PIGK-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGS-
-
-
-
1Loss-
PIGV-
-
-
-
3Gain-
PIGW-
-
-
-
1Loss-
PIGX-
-
-
-
3Gain-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
3Gain-
PIH1D2-
-
-
-
1Loss-
PIK3AP1-
-
-
-
1Loss-
PIK3C2G-
-
-
-
1Loss-
PIK3C3-
-
-
-
1LossPIK3C3--UBC
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3CD-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PIK3R3-
-
-
-
3Gain-
PIK3R4-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PINK1-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PIP4K2B-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIPOX-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITHD1-
-
-
-
3Gain-
PITPNB-
-
-
-
1Loss-
PITPNC1-
-
-
-
3Gain-
PITPNM1-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PIWIL4-
-
-
-
1Loss-
PJVK-
-
-
-
3Gain-
PKD1-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1p.G470D
Missense
SNP
0.311
2--
PKHD1L1p.P2783S
Missense
SNP
0.333
2--
PKM-
-
-
-
1Loss-
PKMYT1-
-
-
-
1Loss-
PKN2-
-
-
-
6Amp-
PKNOX2-
-
-
-
1Loss-
PKP2-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2G10-
-
-
-
8Amp-
PLA2G12A-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G2A-
-
-
-
3Gain-
PLA2G2C-
-
-
-
3Gain-
PLA2G2D-
-
-
-
3Gain-
PLA2G2E-
-
-
-
3Gain-
PLA2G2F-
-
-
-
3Gain-
PLA2G3-
-
-
-
1Loss-
PLA2G5-
-
-
-
3Gain-
PLA2G6-
-
-
-
1Loss-
PLAC8-
-
-
-
1Loss-
PLBD1-
-
-
-
1Loss-
PLCB1p.E373K
Missense
SNP
0.426
2--
PLCB3-
-
-
-
1Loss-
PLCB4p.G71E
Missense
SNP
0.455
2--
PLCD3-
-
-
-
1Loss-
PLCE1-
-
-
-
1Loss-
PLCH1p.R808W
Missense
SNP
0.141
2--
PLCH2-
-
-
-
3Gain-
PLCL2p.A292V
Missense
SNP
0.412
2--
PLCXD2-
-
-
-
3Gain-
PLCXD3-
-
-
-
1Loss-
PLCZ1-
-
-
-
1Loss-
PLD1-
-
-
-
3Gain-
PLEKHA1-
-
-
-
1Loss-
PLEKHA3-
-
-
-
3Gain-
PLEKHA5-
-
-
-
1Loss-
PLEKHB1-
-
-
-
1Loss-
PLEKHB2-
-
-
-
3Gain-
PLEKHG5p.R718Q
Missense
SNP
0.188
3Gain-
PLEKHG6-
-
-
-
1Loss-
PLEKHG7-
-
-
-
3Gain-
PLEKHH3-
-
-
-
1Loss-
PLEKHM1-
-
-
-
1Loss-
PLEKHM2-
-
-
-
3Gain-
PLEKHN1-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHS1p.H363Y
Missense
SNP
0.548
1Loss-
PLET1-
-
-
-
1Loss-
PLK1-
-
-
-
1Loss-
PLK3-
-
-
-
3Gain-
PLK4-
-
-
-
1Loss-
PLOD1-
-
-
-
3Gain-
PLOD2-
-
-
-
3Gain-
PLPP3-
-
-
-
3Gain-
PLPP4-
-
-
-
1Loss-
PLPPR4-
-
-
-
5Amp-
PLPPR5-
-
-
-
5Amp-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXDC1-
-
-
-
1Loss-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXNA4p.F1326L
Missense
SNP
0.321
2--
PLXNB2-
-
-
-
1Loss-
PLXND1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PML-
-
-
-
1Loss-
PMM1-
-
-
-
1Loss-
PMM2-
-
-
-
1Loss-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMT-
-
-
-
1Loss-
PNPLA1p.S422L
Missense
SNP
0.382
2--
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNRC2-
-
-
-
3Gain-
POC5-
-
-
-
1Loss-
PODN-
-
-
-
3Gain-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLA2-
-
-
-
1Loss-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLDIP2-
-
-
-
1Loss-
POLDIP3-
-
-
-
1Loss-
POLG2-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLQ-
-
-
-
3Gain-
POLR1D-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2D-
-
-
-
3Gain-
POLR2F-
-
-
-
1Loss-
POLR2G-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR3C-
-
-
-
3Gain-
POLR3E-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POLR3H-
-
-
-
1Loss-
POMGNT1-
-
-
-
3Gain-
POMP-
-
-
-
1Loss-
POPDC2-
-
-
-
3Gain-
POSTN-
-
-
-
1Loss-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POTEB3-
-
-
-
1Loss-
POTEEp.R36K
Missense
SNP
0.415
3Gain-
POTEF-
-
-
-
3Gain-
POTEHp.S52F
Missense
SNP
0.543
1Loss-
POTEI-
-
-
-
3Gain-
POTEJ-
-
-
-
3Gain-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU3F1-
-
-
-
3Gain-
POU4F1-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPCS-
-
-
-
3Gain-
PPDPFL-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPFIA1p.R306Q
Missense
SNP
0.325
1Loss-
PPFIA2-
-
-
-
1Loss-
PPFIBP1-
-
-
-
1Loss-
PPIAL4A-
-
-
-
4Gain-
PPIAL4C-
-
-
-
3Gain-
PPIAL4D-
-
-
-
3Gain-
PPIAL4G-
-
-
-
3Gain-
PPIE-
-
-
-
3Gain-
PPIH-
-
-
-
3Gain-
PPIL2-
-
-
-
1Loss-
PPL-
-
-
-
1Loss-
PPM1E-
-
-
-
3Gain-
PPM1F-
-
-
-
1Loss-
PPM1Jp.G164R
Missense
SNP
0.150
6Amp-
PPM1K-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPME1-
-
-
-
1Loss-
PPP1CA-
-
-
-
1Loss-
PPP1R14B-
-
-
-
1Loss-
PPP1R1B-
-
-
-
1Loss-
PPP1R2-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R32-
-
-
-
1Loss-
PPP1R3Ap.G464E
Missense
SNP
0.482
2--
PPP1R3C-
-
-
-
1Loss-
PPP1R8-
-
-
-
3Gain-
PPP2R1B-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP2R5B-
-
-
-
1Loss-
PPP3CA-
-
-
-
1Loss-
PPP4C-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PPP6R3-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PPT1-
-
-
-
3Gain-
PPWD1-
-
-
-
1Loss-
PPY-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
3Gain-
PRAME-
-
-
-
1Loss-
PRAMEF1-
-
-
-
3Gain-
PRAMEF11-
-
-
-
3Gain-
PRAMEF12-
-
-
-
3Gain-
PRAMEF14-
-
-
-
3Gain-
PRAMEF15-
-
-
-
3Gain-
PRAMEF18-
-
-
-
3Gain-
PRAMEF19-
-
-
-
3Gain-
PRAMEF2-
-
-
-
3Gain-
PRAMEF20-
-
-
-
3Gain-
PRAMEF25-
-
-
-
3Gain-
PRAMEF26-
-
-
-
3Gain-
PRAMEF27-
-
-
-
3Gain-
PRAMEF4-
-
-
-
3Gain-
PRAMEF5-
-
-
-
3Gain-
PRAMEF6-
-
-
-
3Gain-
PRAMEF9-
-
-
-
3Gain-
PRAP1-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRC1-
-
-
-
3Gain-
PRCD-
-
-
-
3Gain-
PRCP-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM16-
-
-
-
3Gain-
PRDM2-
-
-
-
3Gain-
PRDM5p.E229K
Missense
SNP
0.219
1Loss-
PRDM8-
-
-
-
1Loss-
PRDX1-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRDX5-
-
-
-
1Loss-
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRKAA1-
-
-
-
1Loss-
PRKAA2-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
3Gain-
PRKAR1A-
-
-
-
3Gain-
PRKCA-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKCI-
-
-
-
3Gain-
PRKCQ-
-
-
-
1Loss-
PRKCZ-
-
-
-
3Gain-
PRKD2p.R147W
Missense
SNP
0.271
2--
PRKG2p.G90R
Missense
SNP
0.638
1Loss-
PRKRA-
-
-
-
3Gain-
PRLHR-
-
-
-
1Loss-
PRLRp.P404S
Missense
SNP
0.457
1Loss-
PRM1-
-
-
-
8Amp-
PRM2-
-
-
-
8Amp-
PRM3-
-
-
-
8Amp-
PRMT6-
-
-
-
6Amp-
PRMT8-
-
-
-
1Loss-
PROC-
-
-
-
3Gain-
PROCA1-
-
-
-
1Loss-
PRODH-
-
-
-
1Loss-
PROK1-
-
-
-
6Amp-
PROS1-
-
-
-
3Gain-
PROSER1-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PROX1p.L9F
Missense
SNP
0.100
2--
PROZ-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF19-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF38A-
-
-
-
3Gain-
PRPF38B-
-
-
-
6Amp-
PRPSAP1-
-
-
-
3Gain-
PRR11p.P104S
Missense
SNP
0.375
3Gain-
PRR14-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR26-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR29-
-
-
-
3Gain-
PRR4-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRRT2-
-
-
-
1Loss-
PRSS12-
-
-
-
1Loss-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS23p.G6E
Missense
SNP
0.355
1Loss-
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS36-
-
-
-
1Loss-
PRSS41-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS8-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRXL2B-
-
-
-
3Gain-
PSD-
-
-
-
1Loss-
PSD2p.R50Q
Missense
SNP
0.190
2--
PSMA4-
-
-
-
1Loss-
PSMA5-
-
-
-
6Amp-
PSMB2-
-
-
-
3Gain-
PSMB3-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMC3IP-
-
-
-
1Loss-
PSMC5-
-
-
-
3Gain-
PSMD11-
-
-
-
1Loss-
PSMD12-
-
-
-
3Gain-
PSMD2-
-
-
-
3Gain-
PSMD3-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSME3-
-
-
-
1Loss-
PSPC1-
-
-
-
1Loss-
PSRC1-
-
-
-
6Amp-
PSTK-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
3Gain-
PTBP2-
-
-
-
6Amp-
PTBP3p.S292F
Missense
SNP
0.394
2--
PTCD2-
-
-
-
1Loss-
PTCH2-
-
-
-
3Gain-
PTCHD3-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGDR2-
-
-
-
1Loss-
PTGER3-
-
-
-
3Gain-
PTGER4-
-
-
-
1Loss-
PTGES3L-
-
-
-
1Loss-
PTGES3L-AARSD1-
-
-
-
1Loss-
PTGFR-
-
-
-
3Gain-
PTGFRN-
-
-
-
5Amp-
PTHLH-
-
-
-
1Loss-
PTMS-
-
-
-
1Loss-
PTP4A2-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN18-
-
-
-
3Gain-
PTPN22-
-
-
-
6Amp-
PTPN4-
-
-
-
3Gain-
PTPN6-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRBp.P2210S
Missense
SNP
0.681
3Gain-
PTPRCAP-
-
-
-
1Loss-
PTPRE-
-
-
-
1Loss-
PTPRF-
-
-
-
3Gain-
PTPRO-
-
-
-
1Loss-
PTPRR-
-
-
-
3Gain-
PTPRU-
-
-
-
3Gain-
PTRH2-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PUM1-
-
-
-
3Gain-
PUS3-
-
-
-
1Loss-
PUSL1-
-
-
-
3Gain-
PVALB-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDNLp.D1280N
Missense
SNP
0.400
2--
PXYLP1-
-
-
-
3Gain-
PYCARD-
-
-
-
1Loss-
PYDC1-
-
-
-
1Loss-
PYDC2-
-
-
-
3Gain-
PYGM-
-
-
-
1Loss-
PYROXD1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
PYY-
-
-
-
1Loss-
PZP-
-
-
-
1Loss-
QARSp.R154W
Missense
SNP
0.390
2--
QPRT-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QRICH2-
-
-
-
3Gain-
QSER1p.P1470S
Missense
SNP
0.450
2--
QTRT2-
-
-
-
3Gain-
R3HCC1L-
-
-
-
1Loss-
R3HDM1-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP4-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB18-
-
-
-
1Loss-
RAB1B-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB26-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB30-
-
-
-
1Loss-
RAB34-
-
-
-
1Loss-
RAB36-
-
-
-
1Loss-
RAB37-
-
-
-
3Gain-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3B-
-
-
-
3Gain-
RAB3GAP1-
-
-
-
3Gain-
RAB3IL1-
-
-
-
1Loss-
RAB3IP-
-
-
-
3Gain-
RAB42-
-
-
-
3Gain-
RAB43-
-
-
-
3Gain-
RAB5C-
-
-
-
1Loss-
RAB6A-
-
-
-
1Loss-
RAB6B-
-
-
-
3Gain-
RAB6C-
-
-
-
3Gain-
RAB6D-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RABEP2-
-
-
-
1Loss-
RABGGTB-
-
-
-
3GainRABGGTB--TAP1
RABL2B-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RABL6p.T75K
Missense
SNP
0.525
2--
RAC2-
-
-
-
1Loss-
RAD1-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD51AP1-
-
-
-
1Loss-
RAD51C-
-
-
-
3Gain-
RAD51D-
-
-
-
1Loss-
RAD51L3-RFFL-
-
-
-
1Loss-
RAD52-
-
-
-
1Loss-
RAD54Lp.P50L
Missense
SNP
0.593
3Gain-
RAD9A-
-
-
-
1Loss-
RAI14-
-
-
-
1Loss-
RALB-
-
-
-
3Gain-
RAMAC-
-
-
-
1Loss-
RAMP2-
-
-
-
1Loss-
RANBP1-
-
-
-
1Loss-
RANBP3L-
-
-
-
1Loss-
RANGAP1-
-
-
-
1Loss-
RAP1A-
-
-
-
6Amp-
RAP1B-
-
-
-
3Gain-
RAP1GAP-
-
-
-
3Gain-
RAP1GDS1-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAPGEFL1-
-
-
-
1Loss-
RARA-
-
-
-
1Loss-
RARRES3-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA3-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP2-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASL10B-
-
-
-
1Loss-
RASL11A-
-
-
-
1Loss-
RASL11B-
-
-
-
1Loss-
RASSF6-
-
-
-
1Loss-
RASSF8-
-
-
-
1Loss-
RAVER2-
-
-
-
3Gain-
RAX-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBBP4-
-
-
-
3Gain-
RBBP6-
-
-
-
1Loss-
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX1-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBM14-
-
-
-
1Loss-
RBM14-RBM4-
-
-
-
1Loss-
RBM15-
-
-
-
6Amp-
RBM17-
-
-
-
1Loss-
RBM20-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM4-
-
-
-
1Loss-
RBM4B-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMXL1-
-
-
-
6Amp-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBP4-
-
-
-
1Loss-
RBP5-
-
-
-
1Loss-
RBP7-
-
-
-
3Gain-
RBX1-
-
-
-
1Loss-
RCAN3-
-
-
-
3Gain-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1-
-
-
-
3Gain-
RCC2-
-
-
-
3Gain-
RCCD1-
-
-
-
3Gain-
RCE1-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCOR2-
-
-
-
1Loss-
RDM1-
-
-
-
1Loss-
RDX-
-
-
-
1Loss-
REC114-
-
-
-
1Loss-
RECQL-
-
-
-
1Loss-
RECQL5-
-
-
-
3Gain-
REG4-
-
-
-
4Gain-
RELA-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELT-
-
-
-
1Loss-
REP15-
-
-
-
1Loss-
RER1-
-
-
-
3Gain-
RERE-
-
-
-
3Gain-
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
REST-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
RETREG3-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
REXO5-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFESD-
-
-
-
1Loss-
RFFL-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFTN1p.E93K
Missense
SNP
0.397
2--
RFX5-
-
-
-
3Gain-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGL4-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS7p.R44C
Missense
SNP
0.489
2--
RGS7BP-
-
-
-
1Loss-
RGS9-
-
-
-
3Gain-
RHBDD3-
-
-
-
1Loss-
RHBDF2-
-
-
-
3Gain-
RHBDL2-
-
-
-
3Gain-
RHBDL3-
-
-
-
1Loss-
RHCE-
-
-
-
3Gain-
RHD-
-
-
-
3Gain-
RHNO1-
-
-
-
1Loss-
RHO-
-
-
-
3Gain-
RHOBTB1p.D429N
Missense
SNP
0.254
2--
RHOBTB3-
-
-
-
1Loss-
RHOC-
-
-
-
6Amp-
RHOD-
-
-
-
1Loss-
RHOT1-
-
-
-
1Loss-
RIBC2-
-
-
-
1Loss-
RICTOR-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RIMKLA-
-
-
-
3Gain-
RIMKLB-
-
-
-
1Loss-
RIMS1-
-
-
-
3Gain-
RIMS3-
-
-
-
3Gain-
RIN1-
-
-
-
1Loss-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RLF-
-
-
-
3Gain-
RMC1-
-
-
-
3Gain-
RMDN2p.R130C
Missense
SNP
0.342
2--
RMI2-
-
-
-
8Amp-
RNASEH2B-
-
-
-
1Loss-
RNASEH2C-
-
-
-
1Loss-
RND2-
-
-
-
1Loss-
RNF11-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF121-
-
-
-
1Loss-
RNF125-
-
-
-
3Gain-
RNF13-
-
-
-
3Gain-
RNF135-
-
-
-
1Loss-
RNF138-
-
-
-
3Gain-
RNF145-
-
-
-
1Loss-
RNF151-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF157-
-
-
-
3Gain-
RNF165-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF169-
-
-
-
1Loss-
RNF17-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF185-
-
-
-
1Loss-
RNF186-
-
-
-
3Gain-
RNF19B-
-
-
-
3Gain-
RNF207-
-
-
-
3Gain-
RNF214-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF217p.P480S
Missense
SNP
0.213
2--
RNF219-
-
-
-
1Loss-
RNF220-
-
-
-
3Gain-
RNF223-
-
-
-
3Gain-
RNF26-
-
-
-
1Loss-
RNF40-
-
-
-
1Loss-
RNF43-
-
-
-
3Gain-
RNF6-
-
-
-
1Loss-
RNF7-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNPC3-
-
-
-
5Amp-
RNPS1-
-
-
-
1Loss-
RNU6-45P-
-
-
-
NDNDRNU6-45P--AC007952.4
ROBO3-
-
-
-
1Loss-
ROBO4p.G686E
Missense
SNP
0.471
1Loss-
ROCK1-
-
-
-
3Gain-
ROGDI-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROR1-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP11-407N17.3p.S834W
Missense
SNP
0.320
NDND-
RPA2-
-
-
-
3Gain-
RPAP2-
-
-
-
5Amp-
RPE65-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPF1-
-
-
-
3Gain-
RPL11-
-
-
-
3Gain-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL19-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL22-
-
-
-
3Gain-
RPL22L1-
-
-
-
3Gain-
RPL23-
-
-
-
1Loss-
RPL23A-
-
-
-
1Loss-
RPL24-
-
-
-
3Gain-
RPL27-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL37-
-
-
-
1Loss-
RPL38-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL3L-
-
-
-
1Loss-
RPL5-
-
-
-
6Amp-
RPN1-
-
-
-
3Gain-
RPP25-
-
-
-
1Loss-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS15A-
-
-
-
4Gain-
RPS17-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS2-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS3-
-
-
-
1Loss-
RPS6KA1-
-
-
-
3Gain-
RPS6KA4-
-
-
-
1Loss-
RPS6KB1-
-
-
-
3Gain-
RPS6KB2-
-
-
-
1Loss-
RPS8-
-
-
-
3Gain-
RPTNp.S413F
Missense
SNP
0.507
3Gain-
RPUSD4-
-
-
-
1Loss-
RRAGC-
-
-
-
3Gain-
RRH-
-
-
-
1Loss-
RRN3-
-
-
-
8Amp-
RRP12-
-
-
-
1Loss-
RRP7A-
-
-
-
1Loss-
RSBN1-
-
-
-
6Amp-
RSC1A1-
-
-
-
3Gain-
RSF1-
-
-
-
1Loss-
RSL1D1p.R147C
Missense
SNP
0.075
8Amp-
RSPH14-
-
-
-
1Loss-
RSPO1-
-
-
-
3Gain-
RSRP1-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTCA-
-
-
-
5Amp-
RTCB-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN3-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTN4RL2-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUNDC1-
-
-
-
1Loss-
RUNDC3A-
-
-
-
1Loss-
RUNX3-
-
-
-
3Gain-
RUVBL1-
-
-
-
3Gain-
RWDD3-
-
-
-
6Amp-
RXFP2p.E77K
Missense
SNP
0.773
1Loss-
RXFP3-
-
-
-
1Loss-
RYK-
-
-
-
3Gain-
RYR2p.G41E
p.S3303F
Missense
Missense
SNP
SNP
0.255
0.525
2--
RYR3p.T442I
Missense
SNP
0.182
2--
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A7L2p.G110E
Missense
SNP
0.489
2--
S100PBP-
-
-
-
3Gain-
S100Z-
-
-
-
1Loss-
S1PR1-
-
-
-
5Amp-
SAC3D1-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD11-
-
-
-
3Gain-
SAMD13-
-
-
-
3Gain-
SAMD7-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMM50-
-
-
-
1Loss-
SAP130-
-
-
-
3Gain-
SAP18-
-
-
-
1Loss-
SAP30BP-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SARM1-
-
-
-
1Loss-
SARS-
-
-
-
6Amp-
SART1-
-
-
-
1Loss-
SASS6-
-
-
-
5Amp-
SAXO2-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBK1-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAPER-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCFD2-
-
-
-
1Loss-
SCGB1A1-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGNp.D173N
Missense
SNP
0.656
2--
SCLT1-
-
-
-
1Loss-
SCMH1-
-
-
-
3Gain-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4A-
-
-
-
3Gain-
SCN4B-
-
-
-
1Loss-
SCN8Ap.E946K
Missense
SNP
0.250
2--
SCN9Ap.R1608Q
Missense
SNP
0.475
2--
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
1Loss-
SCNN1B-
-
-
-
1Loss-
SCNN1D-
-
-
-
3Gain-
SCNN1G-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCP2-
-
-
-
3Gain-
SCPEP1-
-
-
-
3Gain-
SCTR-
-
-
-
3Gain-
SCUBE1-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDC3-
-
-
-
3Gain-
SDF2-
-
-
-
1Loss-
SDF2L1-
-
-
-
1Loss-
SDF4-
-
-
-
3Gain-
SDHAF2-
-
-
-
1Loss-
SDHAF4-
-
-
-
3Gain-
SDHB-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK2-
-
-
-
3Gain-
SDR42E2-
-
-
-
1Loss-
SEBOX-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L1-
-
-
-
3Gain-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L5-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC22A-
-
-
-
3Gain-
SEC22B-
-
-
-
4Gain-
SEC23IP-
-
-
-
1Loss-
SEC24B-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC61A2-
-
-
-
1Loss-
SEC62-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
3Gain-
SELENOH-
-
-
-
1Loss-
SELENOM-
-
-
-
1Loss-
SELENON-
-
-
-
3Gain-
SELENOO-
-
-
-
1Loss-
SELENOP-
-
-
-
1Loss-
SELENOS-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SEMA4G-
-
-
-
1Loss-
SEMA5B-
-
-
-
3Gain-
SEMA6C-
-
-
-
3Gain-
SEMA7A-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP6-
-
-
-
3Gain-
SENP7-
-
-
-
3Gain-
SENP8-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPHS2-
-
-
-
1Loss-
SEPT1-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT9-
-
-
-
3Gain-
SERBP1-
-
-
-
3Gain-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC2-
-
-
-
3Gain-
SERINC5-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERP2-
-
-
-
1Loss-
SERPINA11p.S379Y
Missense
SNP
0.550
2--
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPIND1-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTM1-
-
-
-
1Loss-
SESN2-
-
-
-
3Gain-
SESN3-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD1A-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6-
-
-
-
1Loss-
SEZ6L-
-
-
-
1Loss-
SEZ6L2-
-
-
-
1Loss-
SF1-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3A3-
-
-
-
3Gain-
SF3B2-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFI1-
-
-
-
1Loss-
SFMBT2-
-
-
-
1Loss-
SFN-
-
-
-
3Gain-
SFPQ-
-
-
-
3Gain-
SFR1-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCB-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGF29-
-
-
-
1Loss-
SGIP1-
-
-
-
3Gain-
SGK2p.M61I
Missense
SNP
0.238
2--
SGK494-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B1-
-
-
-
1Loss-
SH2D5-
-
-
-
3Gain-
SH2D7-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
3Gain-
SH3BP1-
-
-
-
1Loss-
SH3D21-
-
-
-
3Gain-
SH3GL3-
-
-
-
1Loss-
SH3GLB1-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
1Loss-
SHANK2-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHISA2-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISA9-
-
-
-
8Amp-
SHISAL1-
-
-
-
1Loss-
SHISAL2A-
-
-
-
3Gain-
SHISAL2B-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAE-
-
-
-
1Loss-
SIAH2-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
3Gain-
SIDT2-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIKE1-
-
-
-
8Amp-
SIN3A-
-
-
-
1Loss-
SINHCAF-
-
-
-
1Loss-
SIPA1-
-
-
-
1Loss-
SIRPGp.P11S
Missense
SNP
0.370
2--
SKA1-
-
-
-
1Loss-
SKA2-
-
-
-
3Gain-
SKA3-
-
-
-
1Loss-
SKI-
-
-
-
3Gain-
SKIDA1-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SKOR2-
-
-
-
1Loss-
SKP2-
-
-
-
1Loss-
SLAIN1-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC10A7p.S261L
Missense
SNP
0.333
2--
SLC12A8-
-
-
-
3Gain-
SLC13A2-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2-
-
-
-
3Gain-
SLC15A3-
-
-
-
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A1-
-
-
-
6Amp-
SLC16A12-
-
-
-
1Loss-
SLC16A4-
-
-
-
6Amp-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC16A8-
-
-
-
1Loss-
SLC16A9p.G28E
Missense
SNP
0.415
2--
SLC17A1p.L347F
Missense
SNP
0.491
2--
SLC17A5-
-
-
-
3Gain-
SLC18A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
1Loss-
SLC1A7-
-
-
-
3Gain-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A15-
-
-
-
8Amp-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9p.S167L
Missense
SNP
0.310
1Loss-
SLC24A2p.G437E
Missense
SNP
0.878
2--
SLC25A1-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A19-
-
-
-
3Gain-
SLC25A24-
-
-
-
6Amp-
SLC25A28-
-
-
-
1Loss-
SLC25A3-
-
-
-
3Gain-
SLC25A30-
-
-
-
1Loss-
SLC25A31-
-
-
-
1Loss-
SLC25A33-
-
-
-
3Gain-
SLC25A34-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC25A39-
-
-
-
1Loss-
SLC25A45-
-
-
-
1Loss-
SLC25A52-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC28A1-
-
-
-
1Loss-
SLC29A2-
-
-
-
1Loss-
SLC2A1-
-
-
-
3Gain-
SLC2A11-
-
-
-
1Loss-
SLC2A14-
-
-
-
1Loss-
SLC2A2-
-
-
-
3Gain-
SLC2A3-
-
-
-
1Loss-
SLC2A5-
-
-
-
3Gain-
SLC2A7-
-
-
-
3Gain-
SLC30A2-
-
-
-
3Gain-
SLC30A5-
-
-
-
1Loss-
SLC30A7-
-
-
-
5Amp-
SLC35A3-
-
-
-
5Amp-
SLC35A5-
-
-
-
3Gain-
SLC35C2p.R261G
Missense
SNP
0.391
2--
SLC35D1-
-
-
-
3Gain-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35E3-
-
-
-
3Gain-
SLC35E4-
-
-
-
1Loss-
SLC35F2-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G2-
-
-
-
3Gain-
SLC35G3-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A11-
-
-
-
3Gain-
SLC39A12-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC39A8-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC41A3-
-
-
-
3Gain-
SLC43A1-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A3-
-
-
-
6Amp-
SLC44A5-
-
-
-
3Gain-
SLC45A1-
-
-
-
3Gain-
SLC45A2-
-
-
-
1Loss-
SLC46A1-
-
-
-
1Loss-
SLC46A3-
-
-
-
1Loss-
SLC4A1-
-
-
-
1Loss-
SLC4A4-
-
-
-
1Loss-
SLC51A-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A11-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A9-
-
-
-
3Gain-
SLC6A12p.W284*
Nonsense
SNP
0.389
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A17-
-
-
-
6Amp-
SLC6A4-
-
-
-
1Loss-
SLC6A9-
-
-
-
3Gain-
SLC7A1-
-
-
-
1Loss-
SLC7A14-
-
-
-
3Gain-
SLC7A4-
-
-
-
1Loss-
SLC9A1-
-
-
-
3Gain-
SLC9A3R1-
-
-
-
3Gain-
SLC9A3R2-
-
-
-
1Loss-
SLC9A9-
-
-
-
3Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C1-
-
-
-
3Gain-
SLCO1A2-
-
-
-
1Loss-
SLCO1B1p.M48I
Missense
SNP
0.435
1Loss-
SLCO1B3p.G315E
Missense
SNP
0.600
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1-
-
-
-
1Loss-
SLCO2A1-
-
-
-
3Gain-
SLCO2B1-
-
-
-
1Loss-
SLCO3A1-
-
-
-
3Gain-
SLF1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLFN11-
-
-
-
1Loss-
SLFN12-
-
-
-
1Loss-
SLFN12L-
-
-
-
1Loss-
SLFN13-
-
-
-
1Loss-
SLFN14-
-
-
-
1Loss-
SLFN5-
-
-
-
1Loss-
SLFNL1-
-
-
-
3Gain-
SLIT1-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK3-
-
-
-
3Gain-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLX1A-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAP1-
-
-
-
3Gain-
SMAP2-
-
-
-
3Gain-
SMARCAD1-
-
-
-
1Loss-
SMARCB1-
-
-
-
1Loss-
SMARCD2-
-
-
-
3Gain-
SMARCE1-
-
-
-
1Loss-
SMC1B-
-
-
-
1Loss-
SMC3-
-
-
-
1Loss-
SMCO1-
-
-
-
3Gain-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMCO4-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG1-
-
-
-
4Gain-
SMG8-
-
-
-
3Gain-
SMIM1-
-
-
-
3Gain-
SMIM12-
-
-
-
3Gain-
SMIM15-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM5-
-
-
-
3Gain-
SMIM6-
-
-
-
3Gain-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMPD4-
-
-
-
3Gain-
SMPDL3B-
-
-
-
3Gain-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMTNL1-
-
-
-
1Loss-
SMURF2-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SNAP29-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNIP1-
-
-
-
3Gain-
SNN-
-
-
-
8Amp-
SNORD45A-
-
-
-
NDNDSNORD45A--TAP1
SNRNP40-
-
-
-
3Gain-
SNRPA1-
-
-
-
3Gain-
SNRPD1-
-
-
-
3Gain-
SNRPD3-
-
-
-
1Loss-
SNU13-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNX15-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX29-
-
-
-
8Amp-
SNX32-
-
-
-
1Loss-
SNX33-
-
-
-
1Loss-
SNX4-
-
-
-
3Gain-
SNX7-
-
-
-
5Amp-
SOCS1-
-
-
-
8Amp-
SOCS6-
-
-
-
1Loss-
SOCS7-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORBS1-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SORT1-
-
-
-
6Amp-
SOST-
-
-
-
1Loss-
SOWAHB-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX11p.K122N
Missense
SNP
0.417
2--
SOX14-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX5-
-
-
-
1Loss-
SOX9-
-
-
-
3Gain-
SP100p.L815*
Frame_Shift_Del
DEL
0.308
2--
SPA17-
-
-
-
1Loss-
SPACA3-
-
-
-
1Loss-
SPACA7-
-
-
-
1Loss-
SPAG16p.P488S
Missense
SNP
0.400
2--
SPAG17-
-
-
-
5Amp-
SPAG5-
-
-
-
1Loss-
SPAG6-
-
-
-
1Loss-
SPAM1p.H399Y
Missense
SNP
0.290
2--
SPARC-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA1-
-
-
-
3Gain-
SPATA13-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPATA18p.I481N
Missense
SNP
0.706
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA21-
-
-
-
3Gain-
SPATA32-
-
-
-
1Loss-
SPATA5-
-
-
-
1Loss-
SPATA6-
-
-
-
3Gain-
SPATA8p.S32L
Missense
SNP
0.500
2--
SPATA9-
-
-
-
1Loss-
SPCS2-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYC-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEF2-
-
-
-
1Loss-
SPENp.P3253S
Missense
SNP
0.667
3Gain-
SPERT-
-
-
-
1Loss-
SPHK1-
-
-
-
3Gain-
SPICE1-
-
-
-
3Gain-
SPINDOC-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPOCD1-
-
-
-
3Gain-
SPOPL-
-
-
-
3Gain-
SPP1-
-
-
-
1Loss-
SPPL2C-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRY1-
-
-
-
1Loss-
SPRY2-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB1-
-
-
-
3Gain-
SPSB2-
-
-
-
1Loss-
SPSB4-
-
-
-
3Gain-
SPTA1p.E529K
Missense
SNP
0.714
2--
SPTBN2-
-
-
-
1Loss-
SPTSSB-
-
-
-
3Gain-
SPX-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SRARP-
-
-
-
3Gain-
SRCAP-
-
-
-
1Loss-
SRCIN1-
-
-
-
1Loss-
SRD5A3-
-
-
-
1Loss-
SREBF1p.A249V
Missense
SNP
0.429
2--
SREBF2-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
4Gain-
SRGAP3-
-
-
-
1Loss-
SRL-
-
-
-
1Loss-
SRM-
-
-
-
3Gain-
SRP68-
-
-
-
3Gain-
SRP72-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRRD-
-
-
-
1Loss-
SRRM1-
-
-
-
3Gain-
SRRM2-
-
-
-
1Loss-
SRRM3p.R250L
Missense
SNP
0.226
2--
SRSF1-
-
-
-
3Gain-
SRSF10-
-
-
-
3Gain-
SRSF11-
-
-
-
3Gain-
SRSF2-
-
-
-
3Gain-
SRSF4-
-
-
-
3Gain-
SRSF8-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSBP3-
-
-
-
3Gain-
SSH2-
-
-
-
1Loss-
SSH3p.E143K
Missense
SNP
0.233
1Loss-
SSPN-
-
-
-
1Loss-
SSPOp.R247G
Missense
SNP
0.431
2--
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SST-
-
-
-
3Gain-
SSTR2-
-
-
-
3Gain-
SSTR3-
-
-
-
1Loss-
SSU72-
-
-
-
3Gain-
SSUH2-
-
-
-
1Loss-
SSX2IP-
-
-
-
3Gain-
ST13-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL3-
-
-
-
3Gain-
ST3GAL4-
-
-
-
1Loss-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GAL2p.S152F
Missense
SNP
0.296
2--
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST6GALNAC3-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
3Gain-
ST7L-
-
-
-
6Amp-
ST8SIA1-
-
-
-
1Loss-
ST8SIA2-
-
-
-
3Gain-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4p.R87C
Missense
SNP
0.182
2--
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAC2-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STAM-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STARD10-
-
-
-
1Loss-
STARD13-
-
-
-
1Loss-
STARD3-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STAT3-
-
-
-
1Loss-
STAT5A-
-
-
-
1Loss-
STAT5B-
-
-
-
1Loss-
STATH-
-
-
-
1Loss-
STBD1-
-
-
-
1Loss-
STEAP3p.P440L
Missense
SNP
0.368
3Gain-
STH-
-
-
-
1Loss-
STIL-
-
-
-
3Gain-
STIP1-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK38L-
-
-
-
1Loss-
STK40-
-
-
-
3Gain-
STMN1-
-
-
-
3Gain-
STN1-
-
-
-
1Loss-
STOML1-
-
-
-
1Loss-
STOML3-
-
-
-
1Loss-
STPG1-
-
-
-
3Gain-
STPG2-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRADA-
-
-
-
3Gain-
STRAP-
-
-
-
1Loss-
STRIP1-
-
-
-
6Amp-
STT3A-
-
-
-
1Loss-
STX12-
-
-
-
3Gain-
STX19-
-
-
-
3Gain-
STX1B-
-
-
-
1Loss-
STX3-
-
-
-
1Loss-
STX4-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STXBP3-
-
-
-
6Amp-
STXBP4-
-
-
-
3Gain-
STXBP5L-
-
-
-
3Gain-
STYK1-
-
-
-
1Loss-
SUB1-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT4A1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMO2-
-
-
-
3Gain-
SUN2-
-
-
-
1Loss-
SUPT20H-
-
-
-
1Loss-
SUPT4H1-
-
-
-
3Gain-
SUPT6H-
-
-
-
1Loss-
SUSD2-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SUZ12-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
3Gain-
SV2Cp.G449E
Missense
SNP
0.558
1Loss-
SVBP-
-
-
-
3Gain-
SVIL-
-
-
-
1Loss-
SYCE1-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYCP1p.E775K
Missense
SNP
0.095
8Amp-
SYDE2p.N513K
Missense
SNP
0.173
3Gain-
SYF2-
-
-
-
3Gain-
SYN3-
-
-
-
1Loss-
SYNC-
-
-
-
3Gain-
SYNGR1-
-
-
-
1Loss-
SYNGR2-
-
-
-
3Gain-
SYNGR3-
-
-
-
1Loss-
SYNM-
-
-
-
3Gain-
SYNPO2-
-
-
-
1Loss-
SYNRG-
-
-
-
1Loss-
SYPL2-
-
-
-
6Amp-
SYT10-
-
-
-
1Loss-
SYT12-
-
-
-
1Loss-
SYT3p.R558C
Missense
SNP
0.426
2--
SYT4-
-
-
-
1Loss-
SYT6-
-
-
-
8Amp-
SYT7-
-
-
-
1Loss-
SYTL1-
-
-
-
3Gain-
SYTL2-
-
-
-
1Loss-
SYVN1-
-
-
-
1Loss-
SZRD1-
-
-
-
3Gain-
SZT2-
-
-
-
3Gain-
TAB1-
-
-
-
1Loss-
TACC2-
-
-
-
1Loss-
TACO1-
-
-
-
3Gain-
TACR3-
-
-
-
1Loss-
TACSTD2-
-
-
-
3Gain-
TADA2A-
-
-
-
1Loss-
TAF12-
-
-
-
3Gain-
TAF13-
-
-
-
6Amp-
TAF15-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF1Lp.L41F
Missense
SNP
0.704
2--
TAF3-
-
-
-
1Loss-
TAF4p.L717F
Missense
SNP
0.182
2--
TAF5-
-
-
-
1Loss-
TAF6L-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAGLN3-
-
-
-
3Gain-
TAL1-
-
-
-
3Gain-
TANC2-
-
-
-
3Gain-
TANGO2-
-
-
-
1Loss-
TAOK1-
-
-
-
1Loss-
TAOK2-
-
-
-
1Loss-
TAP1-
-
-
-
2-RABGGTB--TAP1
SNORD45A--TAP1
TAPBPL-
-
-
-
1Loss-
TARDBP-
-
-
-
3Gain-
TARS-
-
-
-
1Loss-
TARS2-
-
-
-
3Gain-
TAS1R1-
-
-
-
3Gain-
TAS1R2-
-
-
-
3Gain-
TAS1R3-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R3p.A228V
Missense
SNP
0.333
2--
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R38p.S329F
Missense
SNP
0.290
2--
TAS2R42-
-
-
-
1Loss-
TAS2R43-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D10B-
-
-
-
1Loss-
TBC1D10C-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D21-
-
-
-
1Loss-
TBC1D22A-
-
-
-
1Loss-
TBC1D23-
-
-
-
3Gain-
TBC1D24-
-
-
-
1Loss-
TBC1D29-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D3-
-
-
-
1Loss-
TBC1D3B-
-
-
-
1Loss-
TBC1D3C-
-
-
-
1Loss-
TBC1D3D-
-
-
-
1Loss-
TBC1D3E-
-
-
-
1Loss-
TBC1D3F-
-
-
-
1Loss-
TBC1D3G-
-
-
-
1Loss-
TBC1D3H-
-
-
-
1Loss-
TBC1D3I-
-
-
-
1Loss-
TBC1D3K-
-
-
-
1Loss-
TBC1D3L-
-
-
-
1Loss-
TBC1D4-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBCEL-
-
-
-
1Loss-
TBCKp.S729L
Missense
SNP
0.235
1Loss-
TBL1XR1-
-
-
-
3Gain-
TBL3-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX1-
-
-
-
1Loss-
TBX10-
-
-
-
1Loss-
TBX15-
-
-
-
4Gain-
TBX2-
-
-
-
3Gain-
TBX20p.H114Q
Missense
SNP
0.239
2--
TBX4-
-
-
-
3Gain-
TBX5p.G365S
Missense
SNP
0.172
2--
TBX6-
-
-
-
1Loss-
TCAP-
-
-
-
1Loss-
TCEA3-
-
-
-
3Gain-
TCEANC2-
-
-
-
3Gain-
TCERG1Lp.M371I
Missense
SNP
0.231
1Loss-
TCF20-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1p.E428K
Missense
SNP
0.517
3Gain-
TCIRG1-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCTE1p.P46S
Missense
SNP
0.271
2--
TCTEX1D1-
-
-
-
3Gain-
TCTEX1D2-
-
-
-
3Gain-
TCTEX1D4-
-
-
-
3Gain-
TCTN3-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TDRD5p.E403K
Missense
SNP
0.474
2--
TDRKH-
-
-
-
3Gain-
TEAD4-
-
-
-
1Loss-
TECRL-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TECTB-
-
-
-
1Loss-
TEDC2-
-
-
-
1Loss-
TEF-
-
-
-
1Loss-
TEFM-
-
-
-
1Loss-
TEKT2-
-
-
-
3Gain-
TEKT5-
-
-
-
8Amp-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENM2-
-
-
-
1Loss-
TENM4-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT5B-
-
-
-
3Gain-
TENT5C-
-
-
-
5Amp-
TESK2-
-
-
-
3Gain-
TESMIN-
-
-
-
1Loss-
TET2-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX14-
-
-
-
3Gain-
TEX2-
-
-
-
3Gain-
TEX26-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX38-
-
-
-
3Gain-
TEX46-
-
-
-
3Gain-
TEX51-
-
-
-
3Gain-
TEX52-
-
-
-
1Loss-
TF-
-
-
-
3Gain-
TFAP2E-
-
-
-
3Gain-
TFAP4-
-
-
-
1Loss-
TFCP2L1p.E286K
Missense
SNP
0.286
3Gain-
TFDP1-
-
-
-
1Loss-
TFDP2-
-
-
-
3Gain-
TFF3p.P9L
Missense
SNP
0.400
2--
TFGp.L105F
Missense
SNP
0.309
3Gain-
TFIP11-
-
-
-
1Loss-
TFRC-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFB1I1-
-
-
-
1Loss-
TGFBR3-
-
-
-
5Amp-
TGM5p.S123F
Missense
SNP
0.219
2--
THAP10-
-
-
-
1Loss-
THAP12-
-
-
-
1Loss-
THAP3-
-
-
-
3Gain-
THAP6-
-
-
-
1Loss-
THAP7-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THEGL-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMIS2-
-
-
-
3Gain-
THG1L-
-
-
-
1Loss-
THNSL1-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THOC6-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRA-
-
-
-
1Loss-
THRAP3-
-
-
-
3Gain-
THRSP-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THSD7B-
-
-
-
3Gain-
THUMPD1-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAF1-
-
-
-
1Loss-
TIAL1-
-
-
-
1Loss-
TIAM2p.G142E
Missense
SNP
0.245
2--
TIE1p.D758N
Missense
SNP
0.327
3Gain-
TIFA-
-
-
-
1Loss-
TIGAR-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3-
-
-
-
1Loss-
TIGD7-
-
-
-
1Loss-
TIGIT-
-
-
-
3Gain-
TIMD4p.G221E
Missense
SNP
0.167
1Loss-
TIMM10-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIMP3-
-
-
-
1Loss-
TINAGL1-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TK1-
-
-
-
3Gain-
TKFC-
-
-
-
1Loss-
TLCD1-
-
-
-
1Loss-
TLK2-
-
-
-
3Gain-
TLL2-
-
-
-
1Loss-
TLNRD1-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TM2D1-
-
-
-
3Gain-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM6SF1-
-
-
-
1Loss-
TM7SF2-
-
-
-
1Loss-
TM7SF3-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TMC3-
-
-
-
1Loss-
TMC5p.P226S
Missense
SNP
0.176
1Loss-
TMC6-
-
-
-
3Gain-
TMC8-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMCC3-
-
-
-
3Gain-
TMCO2-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMCO4-
-
-
-
3Gain-
TMED3-
-
-
-
1Loss-
TMED5-
-
-
-
6Amp-
TMEM100-
-
-
-
3Gain-
TMEM101-
-
-
-
1Loss-
TMEM104-
-
-
-
3Gain-
TMEM106A-
-
-
-
1Loss-
TMEM108-
-
-
-
3Gain-
TMEM109-
-
-
-
1Loss-
TMEM114-
-
-
-
1Loss-
TMEM121B-
-
-
-
1Loss-
TMEM123-
-
-
-
1Loss-
TMEM125-
-
-
-
3Gain-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM132A-
-
-
-
1Loss-
TMEM132E-
-
-
-
1Loss-
TMEM134-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM150C-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM159-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM163-
-
-
-
3Gain-
TMEM165-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM167B-
-
-
-
6Amp-
TMEM171-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM177-
-
-
-
3Gain-
TMEM179B-
-
-
-
1Loss-
TMEM184B-
-
-
-
1Loss-
TMEM185B-
-
-
-
3Gain-
TMEM186-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM198p.E270K
Missense
SNP
0.297
2--
TMEM199-
-
-
-
1Loss-
TMEM200B-
-
-
-
3Gain-
TMEM201-
-
-
-
3Gain-
TMEM202-
-
-
-
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM212-
-
-
-
3Gain-
TMEM216-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM219-
-
-
-
1Loss-
TMEM222-
-
-
-
3Gain-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM234-
-
-
-
3Gain-
TMEM235-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM240-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM242p.S87F
Missense
SNP
0.215
2--
TMEM25-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM267-
-
-
-
1Loss-
TMEM269-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM30A-
-
-
-
3Gain-
TMEM35B-
-
-
-
3Gain-
TMEM37-
-
-
-
3Gain-
TMEM39A-
-
-
-
3Gain-
TMEM39B-
-
-
-
3Gain-
TMEM41A-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM45B-
-
-
-
1Loss-
TMEM50A-
-
-
-
3Gain-
TMEM51-
-
-
-
3Gain-
TMEM52-
-
-
-
3Gain-
TMEM52B-
-
-
-
1Loss-
TMEM53-
-
-
-
3Gain-
TMEM54-
-
-
-
3Gain-
TMEM56-
-
-
-
6Amp-
TMEM56-RWDD3-
-
-
-
6Amp-
TMEM59-
-
-
-
3Gain-
TMEM61-
-
-
-
3Gain-
TMEM69-
-
-
-
3Gain-
TMEM82-
-
-
-
3Gain-
TMEM88B-
-
-
-
3Gain-
TMEM94-
-
-
-
3Gain-
TMEM97-
-
-
-
1Loss-
TMEM98-
-
-
-
1Loss-
TMEM99-
-
-
-
1Loss-
TMIGD1-
-
-
-
1Loss-
TMIGD3-
-
-
-
6Amp-
TMOD4-
-
-
-
3Gain-
TMPO-
-
-
-
3Gain-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMPRSS7-
-
-
-
3Gain-
TMTC1-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMUB2-
-
-
-
1Loss-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF14-
-
-
-
3Gain-
TNFRSF17-
-
-
-
8Amp-
TNFRSF18-
-
-
-
3Gain-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
3Gain-
TNFRSF25-
-
-
-
3Gain-
TNFRSF4-
-
-
-
3Gain-
TNFRSF8-
-
-
-
3Gain-
TNFRSF9-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNFSF11-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNIK-
-
-
-
3Gain-
TNIP3-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNKS1BP1-
-
-
-
1Loss-
TNKS2-
-
-
-
1Loss-
TNNI3K-
-
-
-
3Gain-
TNP2-
-
-
-
8Amp-
TNPO1-
-
-
-
1Loss-
TNRC6A-
-
-
-
1Loss-
TNRC6B-
-
-
-
1Loss-
TNRC6C-
-
-
-
3Gain-
TNS4-
-
-
-
1Loss-
TOB2-
-
-
-
1Loss-
TOE1-
-
-
-
3Gain-
TOM1-
-
-
-
1Loss-
TOM1L1-
-
-
-
3Gain-
TOMM22-
-
-
-
1Loss-
TOMM70-
-
-
-
3Gain-
TOP2A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPAZ1p.S1535F
Missense
SNP
0.395
2--
TOPBP1-
-
-
-
3Gain-
TOR1AIP2p.S451L
Missense
SNP
0.326
2--
TP53p.R342*
p.P278F
Nonsense
Missense
SNP
MNP
0.804
0.205
2--
TP53AIP1-
-
-
-
1Loss-
TP53I13-
-
-
-
1Loss-
TP63-
-
-
-
3Gain-
TP73-
-
-
-
3Gain-
TPBGL-
-
-
-
1Loss-
TPCN2-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPI1-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPOp.D238N
Missense
SNP
0.255
2--
TPP2p.P874L
Missense
SNP
0.647
1Loss-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPRG1L-
-
-
-
3Gain-
TPST2-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TRA2B-
-
-
-
3Gain-
TRABD-
-
-
-
1Loss-
TRABD2B-
-
-
-
3Gain-
TRAF4-
-
-
-
1Loss-
TRAF7-
-
-
-
1Loss-
TRAM1L1-
-
-
-
1Loss-
TRAP1-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC3-
-
-
-
3Gain-
TRAPPC4-
-
-
-
1Loss-
TRAPPC8-
-
-
-
3Gain-
TRAT1-
-
-
-
3Gain-
TRDMT1-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TRH-
-
-
-
3Gain-
TRIM10p.R42C
Missense
SNP
0.478
2--
TRIM13-
-
-
-
1Loss-
TRIM17p.R376Q
Missense
SNP
0.411
2--
TRIM23-
-
-
-
1Loss-
TRIM25-
-
-
-
3Gain-
TRIM29-
-
-
-
1Loss-
TRIM3p.P104L
Missense
SNP
0.455
2--
TRIM33-
-
-
-
8Amp-
TRIM37-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM45-
-
-
-
5Amp-
TRIM47-
-
-
-
3Gain-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
1Loss-
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM62-
-
-
-
3Gain-
TRIM63-
-
-
-
3Gain-
TRIM64B-
-
-
-
1Loss-
TRIM65-
-
-
-
3Gain-
TRIM72-
-
-
-
1Loss-
TRIM77-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIOBPp.Q716E
Missense
SNP
0.420
1Loss-
TRIT1-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT112-
-
-
-
1Loss-
TRMT13-
-
-
-
5Amp-
TRMT2A-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
3Gain-
TRNP1-
-
-
-
3Gain-
TRNT1-
-
-
-
1Loss-
TRPC1-
-
-
-
3Gain-
TRPC3-
-
-
-
1Loss-
TRPC4-
-
-
-
1Loss-
TRPC6-
-
-
-
1Loss-
TRPT1-
-
-
-
1Loss-
TRUB1-
-
-
-
1Loss-
TSC2-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN54-
-
-
-
3Gain-
TSGA10IP-
-
-
-
1Loss-
TSHB-
-
-
-
8Amp-
TSHZ1-
-
-
-
1Loss-
TSKU-
-
-
-
1Loss-
TSN-
-
-
-
3Gain-
TSPAN1-
-
-
-
3Gain-
TSPAN11-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN2-
-
-
-
8Amp-
TSPAN3-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPAN9-
-
-
-
1Loss-
TSPEARp.L340F
Missense
SNP
0.336
2--
TSPO-
-
-
-
1Loss-
TSPOAP1-
-
-
-
3Gain-
TSSK2-
-
-
-
1Loss-
TSSK3-
-
-
-
3Gain-
TST-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC12-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC22-
-
-
-
3Gain-
TTC23-
-
-
-
3Gain-
TTC23L-
-
-
-
1Loss-
TTC25-
-
-
-
1Loss-
TTC28-
-
-
-
1Loss-
TTC33-
-
-
-
1Loss-
TTC34-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39A-
-
-
-
3Gain-
TTC39C-
-
-
-
3Gain-
TTC4-
-
-
-
3Gain-
TTC9C-
-
-
-
1Loss-
TTF2-
-
-
-
5Amp-
TTLL1-
-
-
-
1Loss-
TTLL10-
-
-
-
3Gain-
TTLL12-
-
-
-
1Loss-
TTLL7-
-
-
-
3Gain-
TTLL8-
-
-
-
1Loss-
TTNp.E10346K
p.P2858S
p.S291F
Missense
Missense
Missense
SNP
SNP
SNP
0.355
0.307
0.542
3Gain-
TTR-
-
-
-
3Gain-
TTYH2-
-
-
-
3Gain-
TUBA3C-
-
-
-
1Loss-
TUBA3D-
-
-
-
3Gain-
TUBA3E-
-
-
-
3Gain-
TUBA8-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBD1-
-
-
-
3Gain-
TUBG1-
-
-
-
1Loss-
TUBG2-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TUBGCP6-
-
-
-
1Loss-
TUFM-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP3-
-
-
-
1Loss-
TUT1-
-
-
-
1Loss-
TUT4-
-
-
-
3Gain-
TVP23A-
-
-
-
8Amp-
TWNK-
-
-
-
1Loss-
TXLNA-
-
-
-
3Gain-
TXN2-
-
-
-
1Loss-
TXNDC11-
-
-
-
8Amp-
TXNDC12-
-
-
-
3Gain-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TXNRD3-
-
-
-
3Gain-
TYMP-
-
-
-
1Loss-
TYR-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
TYW3-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UBA5-
-
-
-
3Gain-
UBA6-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBALD2-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBC-
-
-
-
2-PIK3C3--UBC
UBE2D3-
-
-
-
1Loss-
UBE2J2-
-
-
-
3Gain-
UBE2L3-
-
-
-
1Loss-
UBE2L6-
-
-
-
1Loss-
UBE2O-
-
-
-
3Gain-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2U-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBE4B-
-
-
-
3Gain-
UBFD1-
-
-
-
1Loss-
UBIAD1-
-
-
-
3Gain-
UBL3-
-
-
-
1Loss-
UBL4B-
-
-
-
6Amp-
UBL7-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBR4p.A1831V
Missense
SNP
0.745
3Gain-
UBTD1-
-
-
-
1Loss-
UBTF-
-
-
-
1Loss-
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UBXN10-
-
-
-
3Gain-
UBXN11-
-
-
-
3Gain-
UBXN4-
-
-
-
3Gain-
UBXN7-
-
-
-
3Gain-
UCHL3-
-
-
-
1Loss-
UCMA-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UGGT1p.I1175T
Missense
SNP
0.321
3Gain-
UGGT2-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
1Loss-
UGT3A2-
-
-
-
1Loss-
UGT8-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
UMOD-
-
-
-
1Loss-
UMPS-
-
-
-
3Gain-
UNC119-
-
-
-
1Loss-
UNC13D-
-
-
-
3Gain-
UNC45A-
-
-
-
3Gain-
UNC45B-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC93B1-
-
-
-
1Loss-
UNK-
-
-
-
3Gain-
UPB1-
-
-
-
1Loss-
UPF2-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UPK3A-
-
-
-
1Loss-
UQCC3-
-
-
-
1Loss-
UQCR10-
-
-
-
1Loss-
UQCRC2-
-
-
-
1Loss-
UQCRH-
-
-
-
3Gain-
UQCRHL-
-
-
-
3Gain-
URAD-
-
-
-
1Loss-
UROC1-
-
-
-
3Gain-
UROD-
-
-
-
3Gain-
UROS-
-
-
-
1Loss-
USF3-
-
-
-
3Gain-
USH1G-
-
-
-
3Gain-
USO1-
-
-
-
1Loss-
USP1-
-
-
-
3Gain-
USP12-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP18-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP24-
-
-
-
3Gain-
USP28-
-
-
-
1Loss-
USP31-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP33-
-
-
-
3Gain-
USP35-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP46-
-
-
-
1Loss-
USP48-
-
-
-
3Gain-
USP5-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
USP7-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP11-
-
-
-
3Gain-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP23p.R230K
Missense
SNP
0.308
2--
UTP3-
-
-
-
1Loss-
UTP6-
-
-
-
1Loss-
UTS2-
-
-
-
3Gain-
UTS2B-
-
-
-
3Gain-
UVRAG-
-
-
-
1Loss-
VAMP1-
-
-
-
1Loss-
VAMP3-
-
-
-
3Gain-
VANGL1-
-
-
-
8Amp-
VANGL2-
-
-
-
2-VANGL2--CSRP1
VASN-
-
-
-
1Loss-
VAT1-
-
-
-
1Loss-
VAV3-
-
-
-
6Amp-
VAX1-
-
-
-
1Loss-
VCAM1-
-
-
-
5Amp-
VCAN-
-
-
-
1Loss-
VEGFB-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEZF1-
-
-
-
3Gain-
VIM-
-
-
-
1Loss-
VKORC1-
-
-
-
1Loss-
VMP1-
-
-
-
3Gain-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS11-
-
-
-
1Loss-
VPS13D-
-
-
-
3Gain-
VPS25-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS33B-
-
-
-
3Gain-
VPS35L-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS37C-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS51-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VTA1p.D31N
Missense
SNP
0.258
2--
VTCN1-
-
-
-
5Amp-
VTI1A-
-
-
-
1Loss-
VTN-
-
-
-
1Loss-
VWA1-
-
-
-
3Gain-
VWA2-
-
-
-
1Loss-
VWA3Ap.T919M
Missense
SNP
0.333
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B1-
-
-
-
3Gain-
VWA5B2-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
VWCE-
-
-
-
1Loss-
VWF-
-
-
-
1Loss-
WAC-
-
-
-
1Loss-
WARS2-
-
-
-
4Gain-
WASF2-
-
-
-
3Gain-
WASF3-
-
-
-
1Loss-
WBP11-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WBP2NL-
-
-
-
1Loss-
WBP4-
-
-
-
1Loss-
WBSCR17p.G358E
Missense
SNP
0.338
NDND-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR3-
-
-
-
5Amp-
WDR33-
-
-
-
3Gain-
WDR37-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR47-
-
-
-
6Amp-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WDR61-
-
-
-
1Loss-
WDR63-
-
-
-
3Gain-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR74-
-
-
-
1Loss-
WDR77-
-
-
-
6Amp-
WDR78-
-
-
-
3Gain-
WDTC1-
-
-
-
3Gain-
WHAMM-
-
-
-
1Loss-
WIPF2-
-
-
-
1Loss-
WIPI1-
-
-
-
3Gain-
WLS-
-
-
-
3Gain-
WNK1-
-
-
-
1Loss-
WNK4-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT2p.D232N
Missense
SNP
0.322
2--
WNT2B-
-
-
-
6Amp-
WNT4-
-
-
-
3Gain-
WNT5B-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WRAP73-
-
-
-
3Gain-
WSB1-
-
-
-
1Loss-
WT1p.R370C
Missense
SNP
0.476
2--
WWC1-
-
-
-
1Loss-
WWTR1-
-
-
-
3Gain-
XAB2p.A91V
Missense
SNP
0.462
2--
XBP1-
-
-
-
1Loss-
XIRP2p.H1344Y
Missense
SNP
0.377
2--
XKR3-
-
-
-
1Loss-
XKR8-
-
-
-
3Gain-
XPNPEP1-
-
-
-
1Loss-
XPNPEP3-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XPO6-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
XRN1-
-
-
-
3Gain-
XRRA1-
-
-
-
1Loss-
XXYLT1-
-
-
-
3Gain-
XYLT1-
-
-
-
8Amp-
YAP1-
-
-
-
1Loss-
YARS-
-
-
-
3Gain-
YARS2-
-
-
-
1Loss-
YBX1-
-
-
-
3Gain-
YBX3-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YEATS2-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YIF1A-
-
-
-
1Loss-
YIPF1-
-
-
-
3Gain-
YME1L1-
-
-
-
1Loss-
YPEL1-
-
-
-
1Loss-
YPEL2-
-
-
-
3Gain-
YPEL3-
-
-
-
1Loss-
YPEL4-
-
-
-
1Loss-
YRDC-
-
-
-
3Gain-
YTHDC1-
-
-
-
1Loss-
YTHDF2-
-
-
-
3Gain-
YWHAH-
-
-
-
1Loss-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
ZACN-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED3-
-
-
-
1Loss-
ZBED4-
-
-
-
1Loss-
ZBED8-
-
-
-
1Loss-
ZBTB11p.R764*
Nonsense
SNP
0.579
3Gain-
ZBTB16-
-
-
-
1Loss-
ZBTB17-
-
-
-
3Gain-
ZBTB2p.E205K
p.E96K
Missense
Missense
SNP
SNP
0.316
0.406
2--
ZBTB20-
-
-
-
3Gain-
ZBTB3-
-
-
-
1Loss-
ZBTB38-
-
-
-
3Gain-
ZBTB40-
-
-
-
3Gain-
ZBTB44-
-
-
-
1Loss-
ZBTB48-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZBTB8A-
-
-
-
3Gain-
ZBTB8B-
-
-
-
3Gain-
ZBTB8OS-
-
-
-
3Gain-
ZBTB9p.P245S
Missense
SNP
0.339
2--
ZC3H12A-
-
-
-
3Gain-
ZC3H12C-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3H7A-
-
-
-
8Amp-
ZC3H7B-
-
-
-
1Loss-
ZCCHC17-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC17-
-
-
-
3Gain-
ZDHHC18-
-
-
-
3Gain-
ZDHHC19-
-
-
-
3Gain-
ZDHHC2p.S167L
Missense
SNP
0.333
2--
ZDHHC20-
-
-
-
1Loss-
ZDHHC23-
-
-
-
3Gain-
ZDHHC24-
-
-
-
1Loss-
ZDHHC5-
-
-
-
1Loss-
ZDHHC6-
-
-
-
1Loss-
ZDHHC8-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZEB2-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFHX4p.P2463S
Missense
SNP
0.139
2--
ZFP69-
-
-
-
3Gain-
ZFP69B-
-
-
-
3Gain-
ZFP91p.P138S
Missense
SNP
0.690
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFR-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZFYVE28p.D338N
Missense
SNP
0.370
2--
ZFYVE9-
-
-
-
3Gain-
ZG16-
-
-
-
1Loss-
ZG16B-
-
-
-
1Loss-
ZGRF1-
-
-
-
1Loss-
ZIC1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC4-
-
-
-
3Gain-
ZIC5-
-
-
-
1Loss-
ZKSCAN2-
-
-
-
1Loss-
ZMAT1p.L636F
Missense
SNP
0.414
NDND-
ZMAT3-
-
-
-
3Gain-
ZMAT5-
-
-
-
1Loss-
ZMPSTE24-
-
-
-
3Gain-
ZMYM1-
-
-
-
3Gain-
ZMYM2-
-
-
-
1Loss-
ZMYM4-
-
-
-
3Gain-
ZMYM5-
-
-
-
1Loss-
ZMYM6-
-
-
-
3Gain-
ZMYND11-
-
-
-
1Loss-
ZMYND12-
-
-
-
3Gain-
ZNF131-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF174-
-
-
-
1Loss-
ZNF200-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF205-
-
-
-
1Loss-
ZNF207-
-
-
-
1Loss-
ZNF211p.F72L
Missense
SNP
0.345
2--
ZNF213-
-
-
-
1Loss-
ZNF222p.S108F
Missense
SNP
0.392
2--
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF263-
-
-
-
1Loss-
ZNF267-
-
-
-
1Loss-
ZNF280A-
-
-
-
1Loss-
ZNF280Bp.P435L
Missense
SNP
0.586
1Loss-
ZNF326-
-
-
-
6Amp-
ZNF33A-
-
-
-
1Loss-
ZNF362-
-
-
-
3Gain-
ZNF366-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF384-
-
-
-
1Loss-
ZNF385C-
-
-
-
1Loss-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF418p.R658*
Nonsense
SNP
0.382
2--
ZNF436-
-
-
-
3Gain-
ZNF438-
-
-
-
1Loss-
ZNF48-
-
-
-
1Loss-
ZNF492p.R385K
Missense
SNP
0.381
2--
ZNF500-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF518A-
-
-
-
1Loss-
ZNF521p.S568L
Missense
SNP
0.208
3Gain-
ZNF532-
-
-
-
1Loss-
ZNF583p.W65*
Nonsense
SNP
0.455
2--
ZNF592-
-
-
-
1Loss-
ZNF593-
-
-
-
3Gain-
ZNF597-
-
-
-
1Loss-
ZNF598-
-
-
-
1Loss-
ZNF629-
-
-
-
1Loss-
ZNF639-
-
-
-
3Gain-
ZNF644-
-
-
-
6Amp-
ZNF646-
-
-
-
1Loss-
ZNF668-
-
-
-
1Loss-
ZNF683-
-
-
-
3Gain-
ZNF684-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF688-
-
-
-
1Loss-
ZNF689-
-
-
-
1Loss-
ZNF691-
-
-
-
3Gain-
ZNF697-
-
-
-
4Gain-
ZNF70-
-
-
-
1Loss-
ZNF700p.R409*
Nonsense
SNP
0.346
2--
ZNF716p.R288K
Missense
SNP
0.288
2--
ZNF720-
-
-
-
1Loss-
ZNF727p.R304K
Missense
SNP
0.325
2--
ZNF74-
-
-
-
1Loss-
ZNF747-
-
-
-
1Loss-
ZNF75A-
-
-
-
1Loss-
ZNF764-
-
-
-
1Loss-
ZNF768-
-
-
-
1Loss-
ZNF771-
-
-
-
1Loss-
ZNF785-
-
-
-
1Loss-
ZNF792p.E587K
p.L486V
p.P176S
Missense
Missense
Missense
SNP
SNP
SNP
0.293
0.403
0.394
2--
ZNF80-
-
-
-
3Gain-
ZNF808p.P212L
Missense
SNP
0.440
2--
ZNF830-
-
-
-
1Loss-
ZNF843-
-
-
-
1Loss-
ZNF878p.S241L
Missense
SNP
0.320
2--
ZNHIT2-
-
-
-
1Loss-
ZNHIT3-
-
-
-
1Loss-
ZNHIT6-
-
-
-
3Gain-
ZNRF3p.S291F
Missense
SNP
0.189
1Loss-
ZP1p.D97N
Missense
SNP
0.673
1Loss-
ZP2-
-
-
-
1Loss-
ZPBP2-
-
-
-
1Loss-
ZPLD1-
-
-
-
3Gain-
ZPR1-
-
-
-
1Loss-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
3Gain-
ZRANB3-
-
-
-
3Gain-
ZSCAN10-
-
-
-
1Loss-
ZSCAN2-
-
-
-
1Loss-
ZSCAN20-
-
-
-
3Gain-
ZSCAN30-
-
-
-
1Loss-
ZSCAN32-
-
-
-
1Loss-
ZSCAN5Ap.S324F
Missense
SNP
0.487
2--
ZSWIM5-
-
-
-
3Gain-
ZSWIM6-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-
ZXDC-
-
-
-
3Gain-
ZYG11A-
-
-
-
3Gain-
ZYG11Bp.P653L
Missense
SNP
0.146
3Gain-