PDMR-891866~317-R~AR2-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A3GALT2-
-
-
-
5Amp-
A4GNT-
-
-
-
3Gain-
AAASp.Q41*
Nonsense
SNP
0.327
1Loss-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AADACL3-
-
-
-
5Amp-
AADACL4-
-
-
-
5Amp-
AAMDC-
-
-
-
1Loss-
AANAT-
-
-
-
3Gain-
AARS-
-
-
-
1Loss-
AATK-
-
-
-
1Loss-
ABCA10-
-
-
-
3Gain-
ABCA3-
-
-
-
1Loss-
ABCA4p.E1814K
Missense
SNP
0.132
5Amp-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCC1-
-
-
-
8Amp-
ABCC11p.R614W
Missense
SNP
0.659
1Loss-
ABCC12p.G1068R
p.D98N
Missense
Missense
SNP
SNP
0.655
0.304
1Loss-
ABCC2p.R529W
Missense
SNP
0.269
2--
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
3Gain-
ABCC6-
-
-
-
8Amp-
ABCC8p.R275Q
Missense
SNP
0.577
2--
ABCD3-
-
-
-
5Amp-
ABCF3-
-
-
-
3Gain-
ABCG2-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABHD10-
-
-
-
3Gain-
ABHD13-
-
-
-
1Loss-
ABHD17C-
-
-
-
1Loss-
ABI3BP-
-
-
-
3Gain-
ABLIM2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABR-
-
-
-
3Gain-
ABRAXAS1-
-
-
-
1Loss-
ABT1-
-
-
-
3Gain-
ABTB1-
-
-
-
3Gain-
AC001226.2-
-
-
-
1Loss-
AC002310.4-
-
-
-
1Loss-
AC002310.5-
-
-
-
1Loss-
AC003688.1-
-
-
-
3Gain-
AC004687.2-
-
-
-
3Gain-
AC004754.1-
-
-
-
1Loss-
AC004805.1-
-
-
-
3Gain-
AC005324.3-
-
-
-
3Gain-
AC005324.4-
-
-
-
3Gain-
AC005702.1-
-
-
-
3Gain-
AC005837.2-
-
-
-
3Gain-
AC007326.4-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007846.2-
-
-
-
3Gain-
AC007952.4-
-
-
-
NDNDRNU6-431P--AC007952.4
AC007998.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC009086.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011195.2-
-
-
-
3Gain-
AC011921.1-
-
-
-
NDNDAC011921.1--BCAS3
AC012184.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012531.2-
-
-
-
1Loss-
AC015813.2-
-
-
-
3Gain-
AC018554.3-
-
-
-
1Loss-
AC020636.2-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC023055.1-
-
-
-
1Loss-
AC023509.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
3Gain-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026954.2-
-
-
-
3Gain-
AC027796.3-
-
-
-
3Gain-
AC034102.2-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC046185.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
3Gain-
AC068631.2-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC074143.1-
-
-
-
1Loss-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC087289.3-
-
-
-
3Gain-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093155.3-
-
-
-
5Amp-
AC093423.3-
-
-
-
5Amp-
AC093512.2-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC097104.1-
-
-
-
1Loss-
AC098484.3-
-
-
-
5Amp-
AC098582.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
3Gain-
AC099489.1-
-
-
-
8Amp-
AC099850.2-
-
-
-
3Gain-
AC104151.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC104581.2-
-
-
-
3Gain-
AC106886.5-
-
-
-
1Loss-
AC112128.1-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC113554.1-
-
-
-
3Gain-
AC114490.2-
-
-
-
5Amp-
AC114490.3-
-
-
-
5Amp-
AC117378.1-
-
-
-
1Loss-
AC117457.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
5Amp-
AC118553.2-
-
-
-
5Amp-
AC119674.2-
-
-
-
5Amp-
AC120057.2-
-
-
-
3Gain-
AC120114.4-
-
-
-
1Loss-
AC127029.3-
-
-
-
3Gain-
AC129492.3-
-
-
-
3Gain-
AC131160.1-
-
-
-
3Gain-
AC135050.2-
-
-
-
1Loss-
AC135178.2-
-
-
-
3Gain-
AC136428.1-
-
-
-
1Loss-
AC137834.1-
-
-
-
1Loss-
AC138647.1-
-
-
-
1Loss-
AC138696.1-
-
-
-
1Loss-
AC138811.2-
-
-
-
6Amp-
AC138894.1-
-
-
-
1Loss-
AC139530.2-
-
-
-
1Loss-
AC140504.1-
-
-
-
8Amp-
AC245033.1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACBp.E656K
Missense
SNP
0.376
2--
ACAD11-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACAD9-
-
-
-
3Gain-
ACADM-
-
-
-
5Amp-
ACADVL-
-
-
-
3Gain-
ACAP1-
-
-
-
3Gain-
ACAP2-
-
-
-
3Gain-
ACAP3-
-
-
-
5Amp-
ACD-
-
-
-
1Loss-
ACE-
-
-
-
3Gain-
ACER3p.H145Y
Missense
SNP
0.266
1Loss-
ACKR4-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT11-
-
-
-
5Amp-
ACOT13-
-
-
-
3Gain-
ACOT7-
-
-
-
5Amp-
ACOX1-
-
-
-
3Gain-
ACOX3-
-
-
-
1Loss-
ACPP-
-
-
-
3Gain-
ACR-
-
-
-
1Loss-
ACRV1-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSM1-
-
-
-
1Loss-
ACSM2Ap.E88K
Missense
SNP
0.437
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACSS3-
-
-
-
1Loss-
ACTG1-
-
-
-
1Loss-
ACTL6A-
-
-
-
3Gain-
ACTL8-
-
-
-
5Amp-
ACTN3-
-
-
-
1Loss-
ACTR5p.P131S
Missense
SNP
0.451
2--
ACTRT1p.R119*
Nonsense
SNP
1.000
NDND-
ACTRT2-
-
-
-
5Amp-
ACTRT3-
-
-
-
3Gain-
ACVR1B-
-
-
-
1Loss-
ACVRL1-
-
-
-
1Loss-
ACY3-
-
-
-
1Loss-
ADA2-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM21p.D278N
Missense
SNP
0.475
2--
ADAM23p.S746L
Missense
SNP
0.443
2--
ADAM29p.L90F
Missense
SNP
0.757
2--
ADAM30-
-
-
-
5Amp-
ADAM8-
-
-
-
1Loss-
ADAMTS15-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS3-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADCK5-
-
-
-
1Loss-
ADCY5-
-
-
-
3Gain-
ADCY6-
-
-
-
1Loss-
ADCY7-
-
-
-
1Loss-
ADCY9-
-
-
-
1Loss-
ADD1-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRB1-
-
-
-
1Loss-
ADGRB2-
-
-
-
5Amp-
ADGRF1-
-
-
-
3Gain-
ADGRF2-
-
-
-
3Gain-
ADGRF4-
-
-
-
3Gain-
ADGRF5p.D495N
Missense
SNP
0.393
3Gain-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRG7-
-
-
-
3Gain-
ADGRL2-
-
-
-
5Amp-
ADGRL4-
-
-
-
5Amp-
ADGRV1p.G203E
Missense
SNP
0.401
2--
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADIPOQ-
-
-
-
3Gain-
ADIPOR1-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADORA1-
-
-
-
1Loss-
ADORA2B-
-
-
-
3Gain-
ADORA3-
-
-
-
5Amp-
ADPGK-
-
-
-
1Loss-
ADPRH-
-
-
-
3Gain-
ADPRHL1-
-
-
-
1Loss-
ADPRHL2-
-
-
-
5Amp-
ADPRM-
-
-
-
3Gain-
ADRA2C-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADTRP-
-
-
-
3Gain-
AFAP1-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFG3L2-
-
-
-
3Gain-
AFM-
-
-
-
1Loss-
AFMID-
-
-
-
3Gain-
AFP-
-
-
-
1Loss-
AGAP2-
-
-
-
1Loss-
AGBL1-
-
-
-
3Gain-
AGBL4-
-
-
-
5Amp-
AGL-
-
-
-
5Amp-
AGMATp.R95C
Missense
SNP
0.357
5Amp-
AGO1-
-
-
-
5Amp-
AGO2p.R126C
Missense
SNP
0.640
1Loss-
AGO3-
-
-
-
5Amp-
AGO4-
-
-
-
5Amp-
AGRN-
-
-
-
5Amp-
AGRP-
-
-
-
1Loss-
AGTR1-
-
-
-
3Gain-
AGTRAP-
-
-
-
5Amp-
AHCYL1-
-
-
-
5Amp-
AHDC1-
-
-
-
5Amp-
AHNAK-
-
-
-
1Loss-
AHRR-
-
-
-
1Loss-
AHSG-
-
-
-
3Gain-
AHSP-
-
-
-
1Loss-
AIFM3-
-
-
-
1Loss-
AIP-
-
-
-
1Loss-
AIPL1-
-
-
-
3Gain-
AJAP1-
-
-
-
5Amp-
AK2-
-
-
-
5Amp-
AK4-
-
-
-
5Amp-
AK5-
-
-
-
5Amp-
AKAIN1-
-
-
-
3Gain-
AKAP1-
-
-
-
3Gain-
AKAP10-
-
-
-
3Gain-
AKAP11-
-
-
-
1Loss-
AKAP3p.E740K
Missense
SNP
0.293
2--
AKAP6p.E837K
Missense
SNP
0.442
2--
AKIRIN1-
-
-
-
5Amp-
AKNAD1-
-
-
-
5Amp-
AKR1A1-
-
-
-
5Amp-
AKR7A2-
-
-
-
5Amp-
AKR7A3-
-
-
-
5Amp-
AKR7L-
-
-
-
5Amp-
AKTIP-
-
-
-
1Loss-
AL020996.2-
-
-
-
5Amp-
AL021997.3-
-
-
-
3Gain-
AL024498.2-
-
-
-
3Gain-
AL031281.2-
-
-
-
5Amp-
AL031708.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
3Gain-
AL033529.1-
-
-
-
5Amp-
AL049557.1-
-
-
-
5Amp-
AL080251.1-
-
-
-
5Amp-
AL109811.4-
-
-
-
5Amp-
AL162377.3-
-
-
-
1Loss-
AL357673.1-
-
-
-
5Amp-
AL358075.4-
-
-
-
5Amp-
AL359736.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL445685.3-
-
-
-
5Amp-
AL449266.1-
-
-
-
5Amp-
AL451062.3-
-
-
-
5Amp-
AL512428.1-
-
-
-
3Gain-
AL512506.3-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
5Amp-
AL672043.1-
-
-
-
5Amp-
ALB-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALDH3A1-
-
-
-
3Gain-
ALDH3A2-
-
-
-
3Gain-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
5Amp-
ALDH5A1-
-
-
-
3Gain-
ALDOA-
-
-
-
1Loss-
ALG1-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG14-
-
-
-
5Amp-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALG6-
-
-
-
5Amp-
ALG8-
-
-
-
1Loss-
ALKp.P294S
Missense
SNP
0.602
2--
ALKBH5-
-
-
-
3Gain-
ALOX12-
-
-
-
3Gain-
ALOX12Bp.E539K
Missense
SNP
0.607
3Gain-
ALOX15-
-
-
-
3Gain-
ALOX15B-
-
-
-
3Gain-
ALOX5AP-
-
-
-
1Loss-
ALOXE3-
-
-
-
3Gain-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
5Amp-
ALS2CLp.G443E
Missense
SNP
0.460
2--
ALX1-
-
-
-
1Loss-
ALX3-
-
-
-
5Amp-
ALYREF-
-
-
-
1Loss-
AMDHD2-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
AMHR2-
-
-
-
1Loss-
AMIGO1-
-
-
-
5Amp-
AMOTL2-
-
-
-
3Gain-
AMPD1-
-
-
-
5Amp-
AMPD2-
-
-
-
5Amp-
AMPHp.R134C
Missense
SNP
0.476
2--
AMY1A-
-
-
-
5Amp-
AMY1B-
-
-
-
5Amp-
AMY1C-
-
-
-
5Amp-
AMY2A-
-
-
-
5Amp-
AMY2B-
-
-
-
5Amp-
AMZ2-
-
-
-
3Gain-
ANAPC11-
-
-
-
1Loss-
ANAPC13-
-
-
-
3Gain-
ANAPC15-
-
-
-
1Loss-
ANGEL2p.G10S
Missense
SNP
0.600
2--
ANGPTL3-
-
-
-
5Amp-
ANGPTL7-
-
-
-
5Amp-
ANK1p.R1477*
Nonsense
SNP
0.420
2--
ANK3p.E3381K
p.G3086E
Missense
Missense
SNP
SNP
0.371
0.630
2--
ANKFN1-
-
-
-
3Gain-
ANKFY1-
-
-
-
3Gain-
ANKRD10-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD12-
-
-
-
3Gain-
ANKRD13C-
-
-
-
5Amp-
ANKRD13D-
-
-
-
1Loss-
ANKRD17-
-
-
-
1Loss-
ANKRD30Ap.H212Y
Missense
SNP
0.640
2--
ANKRD30B-
-
-
-
3Gain-
ANKRD33-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD52-
-
-
-
1Loss-
ANKRD62-
-
-
-
3Gain-
ANKRD65-
-
-
-
5Amp-
ANKRD66-
-
-
-
3Gain-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANKUB1-
-
-
-
3Gain-
ANO1-
-
-
-
1Loss-
ANP32D-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANXA3-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001931.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP3B2-
-
-
-
1Loss-
AP4B1-
-
-
-
5Amp-
AP5B1-
-
-
-
1Loss-
APCDD1-
-
-
-
3Gain-
APLNR-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBp.G1701R
Missense
SNP
0.480
2--
APOBEC3Gp.S18F
Missense
SNP
0.693
2--
APOBR-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOF-
-
-
-
1Loss-
APOH-
-
-
-
3Gain-
APPBP2-
-
-
-
3Gain-
APRT-
-
-
-
1Loss-
AQP11-
-
-
-
1Loss-
AQP2-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
AQP8-
-
-
-
1Loss-
ARAP1-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARC-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARF3-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARGLU1-
-
-
-
1Loss-
ARHGAP17-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26p.D573N
Missense
SNP
0.313
2--
ARHGAP28-
-
-
-
3Gain-
ARHGAP29-
-
-
-
5Amp-
ARHGAP31-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP39-
-
-
-
1Loss-
ARHGAP44-
-
-
-
3Gain-
ARHGAP9-
-
-
-
1Loss-
ARHGDIA-
-
-
-
1Loss-
ARHGDIG-
-
-
-
1Loss-
ARHGEF10L-
-
-
-
5Amp-
ARHGEF12-
-
-
-
1Loss-
ARHGEF15-
-
-
-
3Gain-
ARHGEF16-
-
-
-
5Amp-
ARHGEF17-
-
-
-
1Loss-
ARHGEF19-
-
-
-
5Amp-
ARHGEF25-
-
-
-
1Loss-
ARHGEF26-
-
-
-
3Gain-
ARHGEF37-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID1A-
-
-
-
5Amp-
ARID1Bp.P1904L
Missense
SNP
0.363
2--
ARID3B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL16-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL6IP1-
-
-
-
6Amp-
ARL8A-
-
-
-
1Loss-
ARMC5-
-
-
-
1Loss-
ARMC7-
-
-
-
3Gain-
ARMC8-
-
-
-
3Gain-
ARMC9p.S251F
Missense
SNP
0.613
2--
ARMH1-
-
-
-
5Amp-
ARMH2-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARRB1-
-
-
-
1Loss-
ARRB2-
-
-
-
3Gain-
ARSA-
-
-
-
1Loss-
ARSG-
-
-
-
3Gain-
ARSHp.R125Q
Missense
SNP
1.000
NDND-
ARSI-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ARTN-
-
-
-
5Amp-
ARVCF-
-
-
-
1Loss-
ASAH2p.D370N
Missense
SNP
0.614
2--
ASAP3-
-
-
-
5Amp-
ASB17-
-
-
-
5Amp-
ASB8-
-
-
-
1Loss-
ASGR1-
-
-
-
3Gain-
ASGR2p.D289N
Missense
SNP
0.648
3Gain-
ASIC1-
-
-
-
1Loss-
ASPA-
-
-
-
3Gain-
ASPHp.S439F
Missense
SNP
0.372
2--
ASPHD1-
-
-
-
1Loss-
ASPSCR1-
-
-
-
1Loss-
ASRGL1-
-
-
-
1Loss-
ASTE1-
-
-
-
3Gain-
ASXL3p.S542F
Missense
SNP
0.561
2--
ATAD3A-
-
-
-
5Amp-
ATAD3B-
-
-
-
5Amp-
ATAD3C-
-
-
-
5Amp-
ATF1-
-
-
-
1Loss-
ATF7-
-
-
-
1Loss-
ATF7IP2-
-
-
-
8Amp-
ATG101-
-
-
-
1Loss-
ATG16L2-
-
-
-
1Loss-
ATG2Ap.P658S
Missense
SNP
0.565
1Loss-
ATG3-
-
-
-
3Gain-
ATG4C-
-
-
-
5Amp-
ATL3-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATN1p.E816K
Missense
SNP
0.299
2--
ATOH1-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10Bp.R1043Q
Missense
SNP
0.620
2--
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP12A-
-
-
-
1Loss-
ATP13A2-
-
-
-
5Amp-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1A1-
-
-
-
5Amp-
ATP1B2-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP23-
-
-
-
1Loss-
ATP2A1-
-
-
-
1Loss-
ATP2A3-
-
-
-
3Gain-
ATP2B4-
-
-
-
1Loss-
ATP2C1-
-
-
-
3Gain-
ATP2C2-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1B-
-
-
-
1Loss-
ATP5IF1-
-
-
-
5Amp-
ATP5MC2-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5PB-
-
-
-
5Amp-
ATP5PD-
-
-
-
3Gain-
ATP6V0B-
-
-
-
5Amp-
ATP6V0C-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V1A-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
1Loss-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATPAF1-
-
-
-
5Amp-
ATPAF2-
-
-
-
3Gain-
ATR-
-
-
-
3Gain-
ATRIPp.S325L
Missense
SNP
0.515
2--
ATRNL1p.R1269*
Nonsense
SNP
0.626
2--
ATXN1-
-
-
-
3Gain-
ATXN1L-
-
-
-
1Loss-
ATXN2L-
-
-
-
1Loss-
ATXN7L2-
-
-
-
5Amp-
ATXN7L3B-
-
-
-
3Gain-
AUNIP-
-
-
-
5Amp-
AURKAIP1-
-
-
-
5Amp-
AURKB-
-
-
-
3Gain-
AVIL-
-
-
-
1Loss-
AVPR1B-
-
-
-
1Loss-
AXIN1-
-
-
-
1Loss-
AXIN2-
-
-
-
3Gain-
AZIN2-
-
-
-
5Amp-
B3GALNT1-
-
-
-
3Gain-
B3GALT6-
-
-
-
5Amp-
B3GAT1-
-
-
-
1Loss-
B3GAT3-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT6-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B3GNTL1-
-
-
-
1Loss-
B4GALNT1-
-
-
-
1Loss-
B4GALT2-
-
-
-
5Amp-
B4GALT4-
-
-
-
3Gain-
B4GAT1-
-
-
-
1Loss-
B9D1-
-
-
-
3Gain-
BACE1-
-
-
-
1Loss-
BACE2p.L197F
Missense
SNP
0.380
2--
BAD-
-
-
-
1Loss-
BAG2-
-
-
-
3Gain-
BAHCC1-
-
-
-
1Loss-
BAIAP2-
-
-
-
1Loss-
BAIAP3-
-
-
-
1Loss-
BANF1-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BARHL2-
-
-
-
5Amp-
BARX2-
-
-
-
1Loss-
BATF2-
-
-
-
1Loss-
BAXp.G103D
Missense
SNP
0.444
2--
BAZ2A-
-
-
-
1Loss-
BAZ2Bp.P1614L
Missense
SNP
0.396
2--
BBS1-
-
-
-
1Loss-
BBS10-
-
-
-
3Gain-
BBS2-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BBX-
-
-
-
3Gain-
BCAMp.P527S
Missense
SNP
0.545
2--
BCAR1-
-
-
-
1Loss-
BCAR3-
-
-
-
5Amp-
BCAS2-
-
-
-
5Amp-
BCAS3-
-
-
-
2-AC011921.1--BCAS3
BCDIN3D-
-
-
-
1Loss-
BCHE-
-
-
-
3Gain-
BCKDK-
-
-
-
1Loss-
BCL10-
-
-
-
5Amp-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L12p.R18W
Missense
SNP
0.446
2--
BCL2L13-
-
-
-
1Loss-
BCL2L15-
-
-
-
5Amp-
BCL6-
-
-
-
3Gain-
BCL6B-
-
-
-
3Gain-
BCL7C-
-
-
-
1Loss-
BCL9L-
-
-
-
1Loss-
BCLAF1p.R145C
Missense
SNP
0.128
2--
BCO1-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BEAN1-
-
-
-
1Loss-
BEND5-
-
-
-
5Amp-
BEND6-
-
-
-
3Gain-
BEST1-
-
-
-
1Loss-
BEST3-
-
-
-
3Gain-
BEST4-
-
-
-
5Amp-
BFAR-
-
-
-
8Amp-
BFSP2-
-
-
-
3Gain-
BHLHA9-
-
-
-
3Gain-
BICDL2-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIN2-
-
-
-
1Loss-
BIRC5-
-
-
-
3Gain-
BIRC8p.K129R
Missense
SNP
0.445
2--
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLOC1S5-
-
-
-
3Gain-
BLOC1S5-TXNDC5-
-
-
-
3Gain-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP5-
-
-
-
3Gain-
BMP6-
-
-
-
3Gain-
BMP8A-
-
-
-
5Amp-
BMP8B-
-
-
-
5Amp-
BMPR1B-
-
-
-
1Loss-
BNC1-
-
-
-
1Loss-
BOC-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS6-
-
-
-
3Gain-
BPHL-
-
-
-
3Gain-
BPTF-
-
-
-
3Gain-
BRCA2-
-
-
-
1Loss-
BRD7-
-
-
-
1Loss-
BRD9-
-
-
-
1Loss-
BRDT-
-
-
-
5Amp-
BRICD5-
-
-
-
1Loss-
BRIP1-
-
-
-
3Gain-
BRMS1-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSDC1-
-
-
-
5Amp-
BSNDp.R30W
Missense
SNP
0.875
5Amp-
BSX-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD18-
-
-
-
1Loss-
BTBD19-
-
-
-
5Amp-
BTBD8-
-
-
-
5Amp-
BTC-
-
-
-
1Loss-
BTF3L4-
-
-
-
5Amp-
BTG1-
-
-
-
3Gain-
BTG2-
-
-
-
1Loss-
BTLA-
-
-
-
3Gain-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
3Gain-
BTN3A1-
-
-
-
3Gain-
BTN3A2-
-
-
-
3Gain-
BTN3A3-
-
-
-
3Gain-
BUD13-
-
-
-
1Loss-
C11orf24-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf65p.A259V
Missense
SNP
0.622
2--
C11orf68-
-
-
-
1Loss-
C11orf80-
-
-
-
1Loss-
C11orf86-
-
-
-
1Loss-
C11orf88p.E51K
Missense
SNP
0.359
2--
C11orf95-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf10-
-
-
-
1Loss-
C12orf54-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C16orf45-
-
-
-
8Amp-
C16orf46-
-
-
-
1Loss-
C16orf54p.R106W
Missense
SNP
0.756
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf91-
-
-
-
1Loss-
C16orf92-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C17orf100-
-
-
-
3Gain-
C17orf107-
-
-
-
3Gain-
C17orf47-
-
-
-
3Gain-
C17orf49-
-
-
-
3Gain-
C17orf51-
-
-
-
3Gain-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C17orf97-
-
-
-
3Gain-
C17orf99-
-
-
-
3Gain-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf84p.T44I
Missense
SNP
0.461
2--
C1orf109-
-
-
-
5Amp-
C1orf116-
-
-
-
1Loss-
C1orf122-
-
-
-
5Amp-
C1orf123-
-
-
-
5Amp-
C1orf127-
-
-
-
5Amp-
C1orf141-
-
-
-
5Amp-
C1orf146-
-
-
-
5Amp-
C1orf158-
-
-
-
5Amp-
C1orf159-
-
-
-
5Amp-
C1orf162-
-
-
-
5Amp-
C1orf167-
-
-
-
5Amp-
C1orf174-
-
-
-
5Amp-
C1orf185-
-
-
-
5Amp-
C1orf194-
-
-
-
5Amp-
C1orf210-
-
-
-
5Amp-
C1orf216-
-
-
-
5Amp-
C1orf50-
-
-
-
5Amp-
C1orf52-
-
-
-
5Amp-
C1orf87-
-
-
-
5Amp-
C1orf94-
-
-
-
5Amp-
C1QA-
-
-
-
5Amp-
C1QB-
-
-
-
5Amp-
C1QBP-
-
-
-
3Gain-
C1QC-
-
-
-
5Amp-
C1QL4-
-
-
-
1Loss-
C1QTNF1-
-
-
-
1Loss-
C1QTNF12-
-
-
-
5Amp-
C1QTNF5-
-
-
-
1Loss-
C1QTNF8-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD3-
-
-
-
1Loss-
C2orf61p.R38K
Missense
SNP
0.408
NDND-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf85-
-
-
-
3Gain-
C4orf17-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf38-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C6p.S836F
Missense
SNP
0.288
2--
C6orf141-
-
-
-
3Gain-
C6orf201-
-
-
-
3Gain-
C6orf52-
-
-
-
3Gain-
C6orf62-
-
-
-
3Gain-
C8Ap.S395L
Missense
SNP
0.164
5Amp-
C8Bp.E98K
Missense
SNP
0.258
5Amp-
C8orf33-
-
-
-
1Loss-
C8orf34p.G237E
p.E454K
Missense
Missense
SNP
SNP
0.358
0.696
2--
C8orf82-
-
-
-
1Loss-
C9p.E558K
Missense
SNP
0.693
2--
CA4-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
5Amp-
CA7-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABP2-
-
-
-
1Loss-
CABP4-
-
-
-
1Loss-
CACHD1-
-
-
-
5Amp-
CACNA1Cp.E477K
Missense
SNP
0.290
2--
CACNA1H-
-
-
-
1Loss-
CACNA1S-
-
-
-
1Loss-
CACNA2D3p.E489K
p.E758K
Missense
Missense
SNP
SNP
0.428
0.361
2--
CACNB3-
-
-
-
1Loss-
CACNG1-
-
-
-
3Gain-
CACNG3-
-
-
-
1Loss-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CADM1-
-
-
-
1Loss-
CAGE1-
-
-
-
3Gain-
CALB2-
-
-
-
1Loss-
CALCOCO1-
-
-
-
1Loss-
CALML6-
-
-
-
5Amp-
CALR3p.P211L
Missense
SNP
0.398
2--
CALY-
-
-
-
1Loss-
CAMK2A-
-
-
-
1Loss-
CAMK2N1-
-
-
-
5Amp-
CAMK2N2-
-
-
-
3Gain-
CAMKK1-
-
-
-
3Gain-
CAMTA1-
-
-
-
5Amp-
CAMTA2-
-
-
-
3Gain-
CANT1-
-
-
-
1Loss-
CAP1-
-
-
-
5Amp-
CAP2-
-
-
-
3Gain-
CAPN1-
-
-
-
1Loss-
CAPN15-
-
-
-
1Loss-
CAPN5-
-
-
-
1Loss-
CAPNS2-
-
-
-
1Loss-
CAPS2-
-
-
-
3Gain-
CAPZA1-
-
-
-
5Amp-
CAPZB-
-
-
-
5Amp-
CARD14-
-
-
-
1Loss-
CARMIL1-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CARNS1-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CASKIN1-
-
-
-
1Loss-
CASKIN2-
-
-
-
3Gain-
CASP9-
-
-
-
5Amp-
CASQ2-
-
-
-
5Amp-
CASR-
-
-
-
3Gain-
CASZ1-
-
-
-
5Amp-
CATSPER1-
-
-
-
1Loss-
CATSPER4-
-
-
-
5Amp-
CATSPERBp.R155*
Nonsense
SNP
0.549
2--
CATSPERZ-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBX2-
-
-
-
1Loss-
CBX4-
-
-
-
1Loss-
CBX5-
-
-
-
1Loss-
CBX8-
-
-
-
1Loss-
CC2D1B-
-
-
-
5Amp-
CCBE1-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC127-
-
-
-
1Loss-
CCDC137-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC144A-
-
-
-
3Gain-
CCDC144NL-
-
-
-
3Gain-
CCDC15-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC154-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC163-
-
-
-
5Amp-
CCDC166-
-
-
-
1Loss-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC17-
-
-
-
5Amp-
CCDC18-
-
-
-
5Amp-
CCDC182-
-
-
-
3Gain-
CCDC184-
-
-
-
1Loss-
CCDC188-
-
-
-
1Loss-
CCDC189-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC24-
-
-
-
5Amp-
CCDC27-
-
-
-
5Amp-
CCDC28B-
-
-
-
5Amp-
CCDC30-
-
-
-
5Amp-
CCDC33-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC40-
-
-
-
1Loss-
CCDC42-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC54-
-
-
-
3Gain-
CCDC57-
-
-
-
1Loss-
CCDC58-
-
-
-
3Gain-
CCDC59-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71p.P171S
Missense
SNP
0.550
2--
CCDC78-
-
-
-
1Loss-
CCDC80-
-
-
-
3Gain-
CCDC84-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC86-
-
-
-
1Loss-
CCDC87-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCER1-
-
-
-
3Gain-
CCL17-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCNA1-
-
-
-
1Loss-
CCND1-
-
-
-
1Loss-
CCND3p.Q276*
Nonsense
SNP
0.411
2--
CCNF-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNL2-
-
-
-
5Amp-
CCNT1-
-
-
-
1Loss-
CCP110-
-
-
-
1Loss-
CCS-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCT2-
-
-
-
3Gain-
CD101-
-
-
-
5Amp-
CD164L2-
-
-
-
5Amp-
CD19-
-
-
-
1Loss-
CD2p.H321D
Missense
SNP
0.849
5Amp-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD248-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD2AP-
-
-
-
3Gain-
CD2BP2-
-
-
-
1Loss-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LGp.Q305*
Nonsense
SNP
1.000
2--
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD47-
-
-
-
3Gain-
CD5-
-
-
-
1Loss-
CD52-
-
-
-
5Amp-
CD53-
-
-
-
5Amp-
CD58-
-
-
-
5Amp-
CD6-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
3Gain-
CD7-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD80-
-
-
-
3Gain-
CD83-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD96-
-
-
-
3Gain-
CDA-
-
-
-
5Amp-
CDADC1-
-
-
-
1Loss-
CDC14A-
-
-
-
5Amp-
CDC16-
-
-
-
1Loss-
CDC20-
-
-
-
5Amp-
CDC42-
-
-
-
5Amp-
CDC42BPAp.S926L
Missense
SNP
0.303
2--
CDC42BPG-
-
-
-
1Loss-
CDC42EP2-
-
-
-
1Loss-
CDC42EP4-
-
-
-
3Gain-
CDC45-
-
-
-
1Loss-
CDC5L-
-
-
-
3Gain-
CDC7-
-
-
-
5Amp-
CDCA5-
-
-
-
1Loss-
CDCA8-
-
-
-
5Amp-
CDCP2-
-
-
-
5Amp-
CDH1-
-
-
-
1Loss-
CDH11-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH19-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK11A-
-
-
-
5Amp-
CDK11B-
-
-
-
5Amp-
CDK17-
-
-
-
3Gain-
CDK18-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK2AP2-
-
-
-
1Loss-
CDK3-
-
-
-
3Gain-
CDK4-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDKAL1-
-
-
-
3Gain-
CDKL2-
-
-
-
1Loss-
CDKN2Ap.X153_splice
Splice_Site
SNP
1.000
2--
CDKN2C-
-
-
-
5Amp-
CDON-
-
-
-
1Loss-
CDR2-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDRT1-
-
-
-
3Gain-
CDRT15-
-
-
-
3Gain-
CDRT15L2-
-
-
-
3Gain-
CDRT4-
-
-
-
3Gain-
CDS1-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDV3-
-
-
-
3Gain-
CDX1-
-
-
-
1Loss-
CDX2-
-
-
-
1Loss-
CDYL-
-
-
-
3Gain-
CDYL2-
-
-
-
1Loss-
CEACAM5p.E253K
Missense
SNP
0.475
2--
CECR2-
-
-
-
1Loss-
CECR5p.R188C
Missense
SNP
0.281
NDND-
CELA1-
-
-
-
1Loss-
CELA2A-
-
-
-
5Amp-
CELA2B-
-
-
-
5Amp-
CELA3A-
-
-
-
5Amp-
CELA3B-
-
-
-
5Amp-
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR1p.S636F
Missense
SNP
0.601
2--
CELSR2-
-
-
-
5Amp-
CEMIP-
-
-
-
1Loss-
CEMP1-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPQ-
-
-
-
3Gain-
CENPS-
-
-
-
5Amp-
CENPS-CORT-
-
-
-
5Amp-
CENPT-
-
-
-
1Loss-
CENPV-
-
-
-
3Gain-
CENPX-
-
-
-
1Loss-
CEP104-
-
-
-
5Amp-
CEP112-
-
-
-
3Gain-
CEP131-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP192-
-
-
-
3Gain-
CEP295NL-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP72-
-
-
-
1Loss-
CEP76-
-
-
-
3Gain-
CEP85-
-
-
-
5Amp-
CEP95-
-
-
-
3Gain-
CEP97-
-
-
-
3Gain-
CEPT1-
-
-
-
5Amp-
CERS5-
-
-
-
1Loss-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP100-
-
-
-
3Gain-
CFAP161-
-
-
-
1Loss-
CFAP20-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
3Gain-
CFAP53-
-
-
-
1Loss-
CFAP54-
-
-
-
3Gain-
CFAP57-
-
-
-
5Amp-
CFAP65p.R136K
Missense
SNP
0.435
2--
CFAP74-
-
-
-
5Amp-
CFAP99-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFHR1p.P265L
Missense
SNP
1.000
2--
CFHR5p.N178Kfs*20
Frame_Shift_Ins
INS
0.253
2--
CFL1-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHD3-
-
-
-
3Gain-
CHD5p.S796F
Missense
SNP
0.848
5Amp-
CHD9-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHI3L1-
-
-
-
1Loss-
CHI3L2-
-
-
-
5Amp-
CHIA-
-
-
-
5Amp-
CHIT1-
-
-
-
1Loss-
CHKA-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHL1p.M167I
Missense
SNP
0.343
2--
CHMP1A-
-
-
-
1Loss-
CHMP1B-
-
-
-
3Gain-
CHMP6-
-
-
-
1Loss-
CHMP7p.S120F
Missense
SNP
0.545
2--
CHP2-
-
-
-
1Loss-
CHRAC1-
-
-
-
1Loss-
CHRD-
-
-
-
3Gain-
CHRDL2-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM3p.S23N
Missense
SNP
0.706
2--
CHRNA3-
-
-
-
1Loss-
CHRNA4p.P494S
Missense
SNP
0.514
2--
CHRNA5-
-
-
-
1Loss-
CHRNB1-
-
-
-
3Gain-
CHRNB4-
-
-
-
1Loss-
CHRNE-
-
-
-
3Gain-
CHST13-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHTF18-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAO3-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIDEA-
-
-
-
3Gain-
CIITA-
-
-
-
8Amp-
CIP2A-
-
-
-
3Gain-
CITED4-
-
-
-
5Amp-
CKAP2-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CLCA1-
-
-
-
5Amp-
CLCA2-
-
-
-
5Amp-
CLCA4-
-
-
-
5Amp-
CLCC1-
-
-
-
5Amp-
CLCF1-
-
-
-
1Loss-
CLCN2-
-
-
-
3Gain-
CLCN6-
-
-
-
5Amp-
CLCN7-
-
-
-
1Loss-
CLCNKA-
-
-
-
5Amp-
CLCNKB-
-
-
-
5Amp-
CLDN1-
-
-
-
3Gain-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN19-
-
-
-
5Amp-
CLDN5-
-
-
-
1Loss-
CLDN6-
-
-
-
1Loss-
CLDN7-
-
-
-
3Gain-
CLDN9-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC10A-
-
-
-
3Gain-
CLEC16A-
-
-
-
8Amp-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC19A-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC6Ap.W151*
Nonsense
SNP
0.362
2--
CLIC4-
-
-
-
5Amp-
CLIC5-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLK3-
-
-
-
1Loss-
CLLU1OS-
-
-
-
3Gain-
CLMP-
-
-
-
1Loss-
CLN3-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLNS1A-
-
-
-
1Loss-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPTM1L-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLSPN-
-
-
-
5Amp-
CLSTN1-
-
-
-
5Amp-
CLSTN2-
-
-
-
3Gain-
CLTC-
-
-
-
3Gain-
CLTCL1-
-
-
-
1Loss-
CLUAP1-
-
-
-
1Loss-
CLUH-
-
-
-
3Gain-
CLYBL-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMPK1-
-
-
-
5Amp-
CMSS1-
-
-
-
3Gain-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNBP-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNIH2-
-
-
-
1Loss-
CNKSR1-
-
-
-
5Amp-
CNMD-
-
-
-
1Loss-
CNN3-
-
-
-
5Amp-
CNOT1-
-
-
-
1Loss-
CNOT2-
-
-
-
3Gain-
CNOT6L-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY2-
-
-
-
1Loss-
CNR2-
-
-
-
5Amp-
CNTF-
-
-
-
1Loss-
CNTN2-
-
-
-
1Loss-
CNTN5p.E619K
Missense
SNP
0.329
2--
CNTNAP4-
-
-
-
1Loss-
CNTROB-
-
-
-
3Gain-
COA4-
-
-
-
1Loss-
COA7-
-
-
-
5Amp-
COG1-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COG7-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL11A1-
-
-
-
5Amp-
COL16A1-
-
-
-
5Amp-
COL18A1p.F507L
Missense
SNP
0.489
2--
COL21A1-
-
-
-
3Gain-
COL22A1-
-
-
-
1Loss-
COL24A1-
-
-
-
5Amp-
COL2A1-
-
-
-
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A2p.P1042S
Missense
SNP
0.972
1Loss-
COL4A4p.G993E
Missense
SNP
0.596
2--
COL5A3p.R1341K
Missense
SNP
0.496
2--
COL6A3p.R856C
Missense
SNP
0.473
2--
COL6A5-
-
-
-
3Gain-
COL6A6p.P912S
Missense
SNP
0.340
3Gain-
COL8A1-
-
-
-
3Gain-
COL8A2-
-
-
-
5Amp-
COL9A2-
-
-
-
5Amp-
COMMD2-
-
-
-
3Gain-
COMMD4-
-
-
-
1Loss-
COMMD5-
-
-
-
1Loss-
COMMD6-
-
-
-
1Loss-
COMMD8p.P155L
Missense
SNP
0.352
2--
COMT-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COPS3-
-
-
-
3Gain-
COPS4-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
COQ7-
-
-
-
3Gain-
COQ9-
-
-
-
1Loss-
CORO1A-
-
-
-
1Loss-
CORO1B-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
CORT-
-
-
-
5Amp-
COTL1-
-
-
-
1Loss-
COX10-
-
-
-
3Gain-
COX11-
-
-
-
3Gain-
COX14-
-
-
-
1Loss-
COX17-
-
-
-
3Gain-
COX18-
-
-
-
1Loss-
COX4I1-
-
-
-
1Loss-
COX5A-
-
-
-
1Loss-
COX6A2-
-
-
-
1Loss-
COX8A-
-
-
-
1Loss-
CP-
-
-
-
3Gain-
CPA3p.S305F
Missense
SNP
0.681
3Gain-
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPEB1-
-
-
-
1Loss-
CPLANE2-
-
-
-
5Amp-
CPLX1-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
3Gain-
CPN2-
-
-
-
3Gain-
CPNE2-
-
-
-
1Loss-
CPNE4-
-
-
-
3Gain-
CPNE7-
-
-
-
1Loss-
CPNE8p.P180S
Missense
SNP
0.742
2--
CPOX-
-
-
-
3Gain-
CPPED1-
-
-
-
8Amp-
CPSF1-
-
-
-
1Loss-
CPSF4L-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPT1B-
-
-
-
1Loss-
CPT2-
-
-
-
5Amp-
CPTP-
-
-
-
5Amp-
CPZ-
-
-
-
1Loss-
CR2p.R643C
Missense
SNP
0.293
2--
CRABP1-
-
-
-
1Loss-
CRAMP1-
-
-
-
1Loss-
CRB1p.E863K
Missense
SNP
0.707
2--
CREBBP-
-
-
-
1Loss-
CRISP1-
-
-
-
3Gain-
CRISP2-
-
-
-
3Gain-
CRISP3-
-
-
-
3Gain-
CRISPLD2-
-
-
-
1Loss-
CRK-
-
-
-
3Gain-
CRKL-
-
-
-
1Loss-
CRMP1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
5Amp-
CRTAM-
-
-
-
1Loss-
CRXp.P240L
Missense
SNP
0.436
2--
CRYBG2-
-
-
-
5Amp-
CRYBG3-
-
-
-
3Gain-
CRYGS-
-
-
-
3Gain-
CRYL1-
-
-
-
1Loss-
CRYM-
-
-
-
1Loss-
CRYZ-
-
-
-
5Amp-
CS-
-
-
-
1Loss-
CSAD-
-
-
-
1Loss-
CSDE1-
-
-
-
5Amp-
CSF1-
-
-
-
5Amp-
CSF1R-
-
-
-
1Loss-
CSF3R-
-
-
-
5Amp-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSK-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD2-
-
-
-
5Amp-
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1D-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CSPP1p.Q150*
Nonsense
SNP
0.671
2--
CSRNP2-
-
-
-
1Loss-
CSRP1-
-
-
-
1LossVANGL2--CSRP1
CSRP2-
-
-
-
3Gain-
CST6-
-
-
-
1Loss-
CSTA-
-
-
-
3Gain-
CSTBp.A40D
Missense
SNP
0.364
2--
CT62-
-
-
-
1Loss-
CTBP1-
-
-
-
1Loss-
CTBS-
-
-
-
5Amp-
CTC1-
-
-
-
3Gain-
CTCF-
-
-
-
1Loss-
CTDNEP1-
-
-
-
3Gain-
CTDP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
1Loss-
CTF1-
-
-
-
1Loss-
CTH-
-
-
-
5Amp-
CTIF-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
5Amp-
CTNND1-
-
-
-
1Loss-
CTNS-
-
-
-
3Gain-
CTPS1-
-
-
-
5Amp-
CTR9p.H153Y
Missense
SNP
0.484
2--
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRC-
-
-
-
5Amp-
CTRL-
-
-
-
1Loss-
CTSE-
-
-
-
1Loss-
CTSF-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSW-
-
-
-
1Loss-
CTTN-
-
-
-
1Loss-
CTTNBP2NL-
-
-
-
5Amp-
CTU2-
-
-
-
1Loss-
CUEDC1-
-
-
-
3Gain-
CUL4A-
-
-
-
1Loss-
CWF19L2p.P842S
Missense
SNP
0.353
2--
CX3CL1-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL16-
-
-
-
3Gain-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR2p.G324R
Missense
SNP
0.451
2--
CXCR5-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CYB561-
-
-
-
3Gain-
CYB561A3-
-
-
-
1Loss-
CYB561D1-
-
-
-
5Amp-
CYB5A-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
3Gain-
CYB5D2-
-
-
-
3Gain-
CYB5R1-
-
-
-
1Loss-
CYB5RL-
-
-
-
5Amp-
CYBA-
-
-
-
1Loss-
CYBC1-
-
-
-
1Loss-
CYC1-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYGB-
-
-
-
3Gain-
CYHR1-
-
-
-
1Loss-
CYLD-
-
-
-
1Loss-
CYP11A1-
-
-
-
1Loss-
CYP11B1-
-
-
-
1Loss-
CYP11B2p.V129M
Missense
SNP
0.603
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP27B1-
-
-
-
1Loss-
CYP2C8p.S460F
Missense
SNP
0.683
2--
CYP2E1-
-
-
-
1Loss-
CYP2J2-
-
-
-
5Amp-
CYP39A1-
-
-
-
3Gain-
CYP4A11-
-
-
-
5Amp-
CYP4A22-
-
-
-
5Amp-
CYP4B1-
-
-
-
5Amp-
CYP4X1-
-
-
-
5Amp-
CYP4Z1-
-
-
-
5Amp-
CYR61-
-
-
-
5Amp-
CYSLTR2-
-
-
-
1Loss-
CYTH1-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
DAB1-
-
-
-
5Amp-
DACH1p.E522K
Missense
SNP
1.000
1Loss-
DAGLA-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DAZAP2-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DBR1-
-
-
-
3Gain-
DBT-
-
-
-
5Amp-
DCAF7-
-
-
-
3Gain-
DCBLD2-
-
-
-
3Gain-
DCCp.R1337*
Nonsense
SNP
0.439
1Loss-
DCD-
-
-
-
1Loss-
DCDC2-
-
-
-
3Gain-
DCDC2B-
-
-
-
5Amp-
DCLK1-
-
-
-
1Loss-
DCLRE1B-
-
-
-
5Amp-
DCN-
-
-
-
3Gain-
DCPS-
-
-
-
1Loss-
DCT-
-
-
-
1Loss-
DCTN2-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCTN5-
-
-
-
1Loss-
DCTPP1-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
1Loss-
DCUN1D3-
-
-
-
1Loss-
DCXR-
-
-
-
1Loss-
DDAH1-
-
-
-
5Amp-
DDB1-
-
-
-
1Loss-
DDI2-
-
-
-
5Amp-
DDIT3-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDN-
-
-
-
1Loss-
DDOST-
-
-
-
5Amp-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX20-
-
-
-
5Amp-
DDX23-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX42-
-
-
-
3Gain-
DDX47p.S229F
Missense
SNP
0.409
2--
DDX5-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DECR2-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
DEFB110-
-
-
-
3Gain-
DEFB112-
-
-
-
3Gain-
DEFB113-
-
-
-
3Gain-
DEFB114-
-
-
-
3Gain-
DEFB133-
-
-
-
3Gain-
DEK-
-
-
-
3Gain-
DENND1Ap.G248R
Missense
SNP
0.472
2--
DENND2C-
-
-
-
5Amp-
DENND2D-
-
-
-
5Amp-
DENND3-
-
-
-
1Loss-
DEPDC1-
-
-
-
5Amp-
DERL2-
-
-
-
3Gain-
DFFA-
-
-
-
5Amp-
DFFB-
-
-
-
5Amp-
DGAT1-
-
-
-
1Loss-
DGAT2-
-
-
-
1Loss-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKA-
-
-
-
1Loss-
DGKE-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DGKQ-
-
-
-
1Loss-
DHCR24-
-
-
-
5Amp-
DHCR7-
-
-
-
1Loss-
DHDDS-
-
-
-
5Amp-
DHFR2-
-
-
-
3Gain-
DHH-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS3-
-
-
-
5Amp-
DHRS7B-
-
-
-
3Gain-
DHRS7C-
-
-
-
3Gain-
DHX33-
-
-
-
3Gain-
DHX36-
-
-
-
3Gain-
DHX37p.E107K
Missense
SNP
0.340
2--
DHX38-
-
-
-
1Loss-
DHX40-
-
-
-
3Gain-
DIAPH3-
-
-
-
1Loss-
DIO1-
-
-
-
5Amp-
DIP2B-
-
-
-
1Loss-
DIRAS3-
-
-
-
5Amp-
DIRC2-
-
-
-
3Gain-
DIS3-
-
-
-
1Loss-
DISP3p.E17K
Missense
SNP
0.814
5Amp-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLG4-
-
-
-
3Gain-
DLG5p.S604F
Missense
SNP
0.349
2--
DLGAP3-
-
-
-
5Amp-
DMAP1-
-
-
-
5Amp-
DMBX1-
-
-
-
5Amp-
DMP1-
-
-
-
1Loss-
DMRTA2-
-
-
-
5Amp-
DMRTB1-
-
-
-
5Amp-
DNAAF1-
-
-
-
1Loss-
DNAH17p.E3587K
Missense
SNP
1.000
1Loss-
DNAH2-
-
-
-
3Gain-
DNAH3-
-
-
-
1Loss-
DNAH5p.E3549K
p.E3208K
Missense
Missense
SNP
SNP
0.684
0.294
2--
DNAH7p.R3333*
Nonsense
SNP
0.460
2--
DNAH8p.P1182S
Missense
SNP
0.533
2--
DNAH9-
-
-
-
3Gain-
DNAI2-
-
-
-
3Gain-
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB13-
-
-
-
1Loss-
DNAJB14-
-
-
-
1Loss-
DNAJB4-
-
-
-
5Amp-
DNAJB8-
-
-
-
3Gain-
DNAJC11-
-
-
-
5Amp-
DNAJC13-
-
-
-
3Gain-
DNAJC14-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC16-
-
-
-
5Amp-
DNAJC19p.R84Q
Missense
SNP
0.636
3Gain-
DNAJC22-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC4-
-
-
-
1Loss-
DNAJC6-
-
-
-
5Amp-
DNAJC8-
-
-
-
5Amp-
DNALI1-
-
-
-
5Amp-
DNASE1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
1Loss-
DNASE2B-
-
-
-
5Amp-
DNTTIP2-
-
-
-
5Amp-
DOC2A-
-
-
-
1Loss-
DOC2B-
-
-
-
3Gain-
DOCK3p.R126Q
Missense
SNP
0.377
2--
DOCK7-
-
-
-
5Amp-
DOCK9-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPH1-
-
-
-
3Gain-
DPH2-
-
-
-
5Amp-
DPH5-
-
-
-
5Amp-
DPP3-
-
-
-
1Loss-
DPP6p.D320N
Missense
SNP
0.637
2--
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPYD-
-
-
-
5Amp-
DPYSL4-
-
-
-
1Loss-
DR1-
-
-
-
5Amp-
DRAM2-
-
-
-
5Amp-
DRAP1-
-
-
-
1Loss-
DRAXIN-
-
-
-
5Amp-
DRC3-
-
-
-
3Gain-
DRC7-
-
-
-
1Loss-
DRD2p.P290L
Missense
SNP
0.556
2--
DRD3-
-
-
-
3Gain-
DRD5-
-
-
-
1Loss-
DRG2-
-
-
-
3Gain-
DSCAML1-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSP-
-
-
-
3Gain-
DSPP-
-
-
-
1Loss-
DST-
-
-
-
3Gain-
DSTYK-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTNBP1-
-
-
-
3Gain-
DTX3-
-
-
-
1Loss-
DTX3L-
-
-
-
3Gain-
DTX4-
-
-
-
1Loss-
DUOX1p.R353Q
Missense
SNP
0.241
2--
DUS1L-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUSP22-
-
-
-
3Gain-
DUXB-
-
-
-
1Loss-
DVL1-
-
-
-
5Amp-
DVL2-
-
-
-
3Gain-
DVL3p.E165*
Nonsense
SNP
0.641
3Gain-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNLL2-
-
-
-
3Gain-
DYNLRB2-
-
-
-
1Loss-
DYRK3-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
DZIP3p.S559F
Missense
SNP
0.691
3Gain-
E2F2-
-
-
-
5Amp-
E2F3-
-
-
-
3Gain-
E2F4-
-
-
-
1Loss-
E2F7-
-
-
-
3Gain-
E4F1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EARS2-
-
-
-
1Loss-
EBNA1BP2p.G38R
Missense
SNP
0.321
5Amp-
EBPL-
-
-
-
1Loss-
ECE1-
-
-
-
5Amp-
ECE2-
-
-
-
3Gain-
ECHDC2-
-
-
-
5Amp-
ECHS1-
-
-
-
1Loss-
ECI1-
-
-
-
1Loss-
ECI2-
-
-
-
3Gain-
ECT2-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EDN1-
-
-
-
3Gain-
EDN2-
-
-
-
5Amp-
EDNRB-
-
-
-
1Loss-
EDRF1p.L205F
Missense
SNP
0.370
2--
EEA1-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1D-
-
-
-
1Loss-
EEF1E1-
-
-
-
3Gain-
EEF1E1-BLOC1S5-
-
-
-
3Gain-
EEF1G-
-
-
-
1Loss-
EEF2K-
-
-
-
1Loss-
EEF2KMT-
-
-
-
1Loss-
EEFSEC-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCAB14-
-
-
-
5Amp-
EFCAB3-
-
-
-
3Gain-
EFCAB7-
-
-
-
5Amp-
EFCC1-
-
-
-
3Gain-
EFEMP2-
-
-
-
1Loss-
EFHC1-
-
-
-
3Gain-
EFHC2p.R522C
Missense
SNP
1.000
NDND-
EFHD2-
-
-
-
5Amp-
EFL1-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
3Gain-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EHD2p.S256F
Missense
SNP
0.393
2--
EHHADH-
-
-
-
3Gain-
EI24-
-
-
-
1Loss-
EIF1AD-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2B3-
-
-
-
5Amp-
EIF2B5-
-
-
-
3Gain-
EIF2D-
-
-
-
1Loss-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3I-
-
-
-
5Amp-
EIF4A1-
-
-
-
3Gain-
EIF4A2-
-
-
-
3Gain-
EIF4A3-
-
-
-
1Loss-
EIF4B-
-
-
-
1Loss-
EIF4E-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF4G3-
-
-
-
5Amp-
EIF5A-
-
-
-
3Gain-
EIF5A2-
-
-
-
3Gain-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
3Gain-
ELAVL4-
-
-
-
5Amp-
ELF1-
-
-
-
1Loss-
ELF3p.R233C
Missense
SNP
0.689
1Loss-
ELK4-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELOA-
-
-
-
5Amp-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOB-
-
-
-
1Loss-
ELOVL1-
-
-
-
5Amp-
ELOVL2p.R22Q
Missense
SNP
0.441
3Gain-
ELOVL5-
-
-
-
3Gain-
ELP2-
-
-
-
1Loss-
ELP5-
-
-
-
3Gain-
EMC1-
-
-
-
5Amp-
EMC6-
-
-
-
3Gain-
EMC8-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EME2-
-
-
-
1Loss-
EML3-
-
-
-
1Loss-
EMP2-
-
-
-
8Amp-
EMSY-
-
-
-
1Loss-
ENDOV-
-
-
-
1Loss-
ENGASE-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENO1-
-
-
-
5AmpPCYT1A--ENO1
ENO3-
-
-
-
3Gain-
ENOPH1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPP4-
-
-
-
3Gain-
ENPP5-
-
-
-
3Gain-
ENPP7-
-
-
-
1Loss-
EPB41-
-
-
-
5Amp-
EPB41L3-
-
-
-
3Gain-
EPG5-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA10-
-
-
-
5Amp-
EPHA2-
-
-
-
5Amp-
EPHA6-
-
-
-
3Gain-
EPHA7p.P381T
Missense
SNP
0.352
2--
EPHA8-
-
-
-
5Amp-
EPHB1-
-
-
-
3Gain-
EPHB2-
-
-
-
5Amp-
EPHB3-
-
-
-
3Gain-
EPHX4-
-
-
-
5Amp-
EPN2-
-
-
-
3Gain-
EPPK1-
-
-
-
1Loss-
EPS15-
-
-
-
5Amp-
EPS8L3-
-
-
-
5Amp-
EPSTI1-
-
-
-
1Loss-
EPX-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
ERBB3-
-
-
-
1Loss-
ERCC4-
-
-
-
8Amp-
ERCC5-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERI2-
-
-
-
1Loss-
ERI3-
-
-
-
5Amp-
ERICH3p.E1180K
p.E663K
Missense
Missense
SNP
SNP
0.282
0.330
5Amp-
ERICH6-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERMAP-
-
-
-
5Amp-
ERN1-
-
-
-
3Gain-
ERN2-
-
-
-
1Loss-
ERRFI1-
-
-
-
5Amp-
ERVFRD-1-
-
-
-
3Gain-
ESAM-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESPL1-
-
-
-
1Loss-
ESPN-
-
-
-
5Amp-
ESRP2-
-
-
-
1Loss-
ESRRA-
-
-
-
1Loss-
ESS2-
-
-
-
1Loss-
ESYT1-
-
-
-
1Loss-
ESYT3-
-
-
-
3Gain-
ETFA-
-
-
-
1Loss-
ETNK2-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
ETV5-
-
-
-
3Gain-
EVA1B-
-
-
-
5Amp-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5-
-
-
-
5Amp-
EVPL-
-
-
-
3Gain-
EVPLL-
-
-
-
3Gain-
EWSR1p.G506E
Missense
SNP
0.277
2--
EXO5-
-
-
-
5Amp-
EXOC2-
-
-
-
3Gain-
EXOC3-
-
-
-
1Loss-
EXOC3L1-
-
-
-
1Loss-
EXOC7-
-
-
-
3Gain-
EXOSC10-
-
-
-
5Amp-
EXOSC4-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXTL1-
-
-
-
5Amp-
EXTL2-
-
-
-
5Amp-
EYA3-
-
-
-
5Amp-
EYSp.E1997K
Missense
SNP
0.532
2--
F10-
-
-
-
1Loss-
F13A1-
-
-
-
3Gain-
F3-
-
-
-
5Amp-
F7-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FAAH-
-
-
-
5Amp-
FAAP100-
-
-
-
1Loss-
FAAP20-
-
-
-
5Amp-
FABP3-
-
-
-
5Amp-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FADS6-
-
-
-
3Gain-
FAF1-
-
-
-
5Amp-
FAH-
-
-
-
1Loss-
FAHD1-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAIM2-
-
-
-
1Loss-
FAM102B-
-
-
-
5Amp-
FAM104A-
-
-
-
3Gain-
FAM110D-
-
-
-
5Amp-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM117Ap.E154K
Missense
SNP
1.000
2--
FAM118B-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM131C-
-
-
-
5Amp-
FAM13A-
-
-
-
1Loss-
FAM151A-
-
-
-
5Amp-
FAM155Ap.S224L
Missense
SNP
0.993
1Loss-
FAM162A-
-
-
-
3Gain-
FAM167B-
-
-
-
5Amp-
FAM168A-
-
-
-
1Loss-
FAM173A-
-
-
-
1Loss-
FAM179Ap.G148R
Missense
SNP
0.367
NDND-
FAM183A-
-
-
-
5Amp-
FAM186A-
-
-
-
1Loss-
FAM186B-
-
-
-
1Loss-
FAM192A-
-
-
-
1Loss-
FAM193A-
-
-
-
1Loss-
FAM19A2p.G104E
Missense
SNP
0.318
2--
FAM19A3-
-
-
-
5Amp-
FAM20A-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM217A-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM229A-
-
-
-
5Amp-
FAM234A-
-
-
-
1Loss-
FAM43A-
-
-
-
3Gain-
FAM43B-
-
-
-
5Amp-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM50B-
-
-
-
3Gain-
FAM53A-
-
-
-
1Loss-
FAM57A-
-
-
-
3Gain-
FAM57B-
-
-
-
1Loss-
FAM69A-
-
-
-
5Amp-
FAM69C-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71Cp.K106N
Missense
SNP
0.665
2--
FAM76A-
-
-
-
5Amp-
FAM83Bp.P828H
Missense
SNP
0.455
3Gain-
FAM83G-
-
-
-
3Gain-
FAM83H-
-
-
-
1Loss-
FAM86C1-
-
-
-
1Loss-
FAM89B-
-
-
-
1Loss-
FAM8A1-
-
-
-
3Gain-
FAM91A1p.R446K
Missense
SNP
0.312
2--
FAM92B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FANCD2p.G713D
Missense
SNP
0.279
2--
FARP1-
-
-
-
1Loss-
FARS2-
-
-
-
3Gain-
FASN-
-
-
-
1Loss-
FAT2-
-
-
-
1Loss-
FAT3p.D78N
Missense
SNP
0.660
2--
FAU-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBF1-
-
-
-
3Gain-
FBLIM1-
-
-
-
5Amp-
FBN1-
-
-
-
2-FBN1--RN7SL1
FBRS-
-
-
-
1Loss-
FBXL16-
-
-
-
1Loss-
FBXL19-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXL6-
-
-
-
1Loss-
FBXL8-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO2-
-
-
-
5Amp-
FBXO22-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO39-
-
-
-
3Gain-
FBXO40-
-
-
-
3Gain-
FBXO42-
-
-
-
5Amp-
FBXO44-
-
-
-
5Amp-
FBXO45-
-
-
-
3Gain-
FBXO6-
-
-
-
5Amp-
FBXO9-
-
-
-
3Gain-
FBXW10-
-
-
-
3Gain-
FCAMR-
-
-
-
1Loss-
FCGR1B-
-
-
-
3Gain-
FCHSD1-
-
-
-
1Loss-
FCHSD2-
-
-
-
1Loss-
FCMR-
-
-
-
1Loss-
FCN3-
-
-
-
5Amp-
FDXR-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FEN1-
-
-
-
1Loss-
FER1L6p.P1379S
Missense
SNP
0.315
2--
FERMT3-
-
-
-
1Loss-
FETUB-
-
-
-
3Gain-
FEZ1p.P355L
Missense
SNP
0.298
1Loss-
FGD5p.S718F
Missense
SNP
0.487
2--
FGF11-
-
-
-
3Gain-
FGF12-
-
-
-
3Gain-
FGF13p.R49C
Missense
SNP
0.984
NDND-
FGF14-
-
-
-
1Loss-
FGF19-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGGY-
-
-
-
5Amp-
FGR-
-
-
-
5Amp-
FHAD1-
-
-
-
5Amp-
FHL3-
-
-
-
5Amp-
FHOD1-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIBP-
-
-
-
1Loss-
FIGNL2-
-
-
-
1Loss-
FILIP1p.L1208F
Missense
SNP
0.490
2--
FILIP1L-
-
-
-
3Gain-
FKBP11-
-
-
-
1Loss-
FKBP2-
-
-
-
1Loss-
FKBP8p.P161S
Missense
SNP
0.433
2--
FLCN-
-
-
-
3Gain-
FLGp.S2476F
Missense
SNP
0.720
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLII-
-
-
-
3Gain-
FLNCp.E1582K
Missense
SNP
0.481
2--
FLRT1-
-
-
-
1Loss-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMNL3-
-
-
-
1Loss-
FMOD-
-
-
-
1Loss-
FN3K-
-
-
-
1Loss-
FN3KRP-
-
-
-
1Loss-
FNBP1L-
-
-
-
5Amp-
FNDC10-
-
-
-
5Amp-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
3Gain-
FNDC5-
-
-
-
5Amp-
FNDC7-
-
-
-
5Amp-
FNDC9-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOPNL-
-
-
-
8Amp-
FOSL1-
-
-
-
1Loss-
FOXC1-
-
-
-
3Gain-
FOXC2-
-
-
-
1Loss-
FOXD2-
-
-
-
5Amp-
FOXD3-
-
-
-
5Amp-
FOXE3-
-
-
-
5Amp-
FOXF1-
-
-
-
1Loss-
FOXF2-
-
-
-
3Gain-
FOXH1-
-
-
-
1Loss-
FOXJ1-
-
-
-
3Gain-
FOXJ3-
-
-
-
5Amp-
FOXK2-
-
-
-
1Loss-
FOXL1-
-
-
-
1Loss-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXO1-
-
-
-
1Loss-
FOXO6-
-
-
-
5Amp-
FOXQ1-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FPGT-
-
-
-
5Amp-
FPGT-TNNI3K-
-
-
-
5Amp-
FRAS1-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRMD3p.S346F
Missense
SNP
0.439
2--
FRMD8-
-
-
-
1Loss-
FRRS1-
-
-
-
5Amp-
FRS2-
-
-
-
3Gain-
FRY-
-
-
-
1Loss-
FSCN2-
-
-
-
1Loss-
FSD2-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FTH1-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FTSJ3-
-
-
-
3Gain-
FUBP1-
-
-
-
5Amp-
FUCA1-
-
-
-
5Amp-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FUS-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FXR2-
-
-
-
3Gain-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYB2-
-
-
-
5Amp-
FYTTD1-
-
-
-
3Gain-
G3BP1-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
GAA-
-
-
-
1Loss-
GAB2-
-
-
-
1Loss-
GAB4-
-
-
-
1Loss-
GABARAP-
-
-
-
3Gain-
GABARAPL2-
-
-
-
1Loss-
GABRA4p.E217K
Missense
SNP
0.660
2--
GABRD-
-
-
-
5Amp-
GABRQp.S429L
Missense
SNP
0.996
NDND-
GABRR3-
-
-
-
3Gain-
GADD45A-
-
-
-
5Amp-
GAK-
-
-
-
1Loss-
GAL-
-
-
-
1Loss-
GAL3ST3-
-
-
-
1Loss-
GALE-
-
-
-
5Amp-
GALK1-
-
-
-
3Gain-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT16p.R136C
Missense
SNP
0.444
2--
GALNT6-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALR2-
-
-
-
3Gain-
GAN-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
3Gain-
GAS8-
-
-
-
1Loss-
GATA2-
-
-
-
3Gain-
GBP1-
-
-
-
5Amp-
GBP2-
-
-
-
5Amp-
GBP3-
-
-
-
5Amp-
GBP4-
-
-
-
5Amp-
GBP5-
-
-
-
5Amp-
GBP6-
-
-
-
5Amp-
GBP7-
-
-
-
5Amp-
GCGR-
-
-
-
1Loss-
GCLC-
-
-
-
3Gain-
GCLM-
-
-
-
5Amp-
GCM1-
-
-
-
3Gain-
GCM2-
-
-
-
3Gain-
GCNT2-
-
-
-
3Gain-
GCSAM-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDAP2-
-
-
-
5Amp-
GDE1-
-
-
-
1Loss-
GDF11-
-
-
-
1Loss-
GDPD1-
-
-
-
3Gain-
GDPD3-
-
-
-
1Loss-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
-
-
1Loss-
GEMIN4-
-
-
-
3Gain-
GEMIN5-
-
-
-
1Loss-
GFER-
-
-
-
1Loss-
GFI1-
-
-
-
5Amp-
GFM1-
-
-
-
3Gain-
GFOD1-
-
-
-
3Gain-
GFOD2-
-
-
-
1Loss-
GFRAL-
-
-
-
3Gain-
GGA2-
-
-
-
1Loss-
GGA3-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGCXp.G732E
Missense
SNP
0.438
2--
GGT2-
-
-
-
1Loss-
GGT6-
-
-
-
3Gain-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHSR-
-
-
-
3Gain-
GID4-
-
-
-
3Gain-
GIF-
-
-
-
1Loss-
GINS1p.R73*
Nonsense
SNP
0.487
2--
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GIPC2-
-
-
-
5Amp-
GJA3-
-
-
-
1Loss-
GJA4-
-
-
-
5Amp-
GJA9-
-
-
-
5Amp-
GJA9-MYCBP-
-
-
-
5Amp-
GJB2-
-
-
-
1Loss-
GJB3-
-
-
-
5Amp-
GJB4-
-
-
-
5Amp-
GJB5-
-
-
-
5Amp-
GJB6-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI1-
-
-
-
1Loss-
GLI4-
-
-
-
1Loss-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIS1-
-
-
-
5Amp-
GLIS2-
-
-
-
1Loss-
GLMN-
-
-
-
5Amp-
GLOD4-
-
-
-
3Gain-
GLP2R-
-
-
-
3Gain-
GLRA1-
-
-
-
1Loss-
GLS2-
-
-
-
1Loss-
GLTPD2-
-
-
-
3Gain-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GLYATL3-
-
-
-
3Gain-
GLYR1-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMDS-
-
-
-
3Gain-
GMEB1-
-
-
-
5Amp-
GML-
-
-
-
1Loss-
GMNC-
-
-
-
3Gain-
GMNN-
-
-
-
3Gain-
GMPR-
-
-
-
3Gain-
GMPS-
-
-
-
3Gain-
GNA13-
-
-
-
3Gain-
GNA14p.E66K
Missense
SNP
0.551
2--
GNAI3-
-
-
-
5Amp-
GNAL-
-
-
-
3Gain-
GNAO1-
-
-
-
1Loss-
GNAT2-
-
-
-
5Amp-
GNB1-
-
-
-
5Amp-
GNB1L-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNG12-
-
-
-
5Amp-
GNG13-
-
-
-
1Loss-
GNG3-
-
-
-
1Loss-
GNG5-
-
-
-
5Amp-
GNL2-
-
-
-
5Amp-
GNPTG-
-
-
-
1Loss-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA6L10-
-
-
-
1Loss-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLT1Ap.G93E
Missense
SNP
0.368
1Loss-
GOT2-
-
-
-
1Loss-
GP1BA-
-
-
-
3Gain-
GP1BB-
-
-
-
1Loss-
GP2-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPAA1-
-
-
-
1Loss-
GPALPP1-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPATCH3-
-
-
-
5Amp-
GPBP1L1-
-
-
-
5Amp-
GPC5-
-
-
-
1Loss-
GPC6p.R524Q
Missense
SNP
1.000
1Loss-
GPD1-
-
-
-
1Loss-
GPHA2-
-
-
-
1Loss-
GPIHBP1-
-
-
-
1Loss-
GPLD1-
-
-
-
3Gain-
GPN2-
-
-
-
5Amp-
GPR12-
-
-
-
1Loss-
GPR137-
-
-
-
1Loss-
GPR139-
-
-
-
1Loss-
GPR142-
-
-
-
3Gain-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR151p.P169L
Missense
SNP
0.617
2--
GPR152-
-
-
-
1Loss-
GPR153-
-
-
-
5Amp-
GPR156-
-
-
-
3Gain-
GPR157-
-
-
-
5Amp-
GPR160-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR182-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR20-
-
-
-
1Loss-
GPR3-
-
-
-
5Amp-
GPR37L1-
-
-
-
1Loss-
GPR61-
-
-
-
5Amp-
GPR78-
-
-
-
1Loss-
GPR84-
-
-
-
1Loss-
GPR87-
-
-
-
3Gain-
GPR88-
-
-
-
5Amp-
GPRC5B-
-
-
-
1Loss-
GPRC5C-
-
-
-
3Gain-
GPRIN3-
-
-
-
1Loss-
GPS1-
-
-
-
1Loss-
GPS2-
-
-
-
3Gain-
GPSM2-
-
-
-
5Amp-
GPT-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX5-
-
-
-
3Gain-
GPX6p.G44E
Missense
SNP
0.536
3Gain-
GPX7-
-
-
-
5Amp-
GRAMD1B-
-
-
-
1Loss-
GRAMD1C-
-
-
-
3Gain-
GRAMD2A-
-
-
-
1Loss-
GRAMD3p.E137K
Missense
SNP
0.304
NDND-
GRAP-
-
-
-
3Gain-
GRAPL-
-
-
-
3Gain-
GRASP-
-
-
-
1Loss-
GRB2-
-
-
-
3Gain-
GRHL3-
-
-
-
5Amp-
GRIA1p.G908E
Missense
SNP
0.257
1Loss-
GRID2-
-
-
-
1Loss-
GRIK2p.R458*
Nonsense
SNP
0.659
2--
GRIK3-
-
-
-
5Amp-
GRIK4-
-
-
-
1Loss-
GRIN2A-
-
-
-
5Amp-
GRIN2C-
-
-
-
3Gain-
GRINA-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK2-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDMCp.R40Q
Missense
SNP
0.278
2--
GSDMD-
-
-
-
1Loss-
GSE1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSG1L2-
-
-
-
3Gain-
GSK3B-
-
-
-
3Gain-
GSPT1-
-
-
-
8Amp-
GSTA1-
-
-
-
3Gain-
GSTA2-
-
-
-
3Gain-
GSTA3-
-
-
-
3Gain-
GSTA4-
-
-
-
3Gain-
GSTA5-
-
-
-
3Gain-
GSTM2-
-
-
-
5Amp-
GSTM3-
-
-
-
5Amp-
GSTM4-
-
-
-
5Amp-
GSTM5-
-
-
-
5Amp-
GSTP1-
-
-
-
1Loss-
GSX1-
-
-
-
1Loss-
GTF2B-
-
-
-
5Amp-
GTF2E1-
-
-
-
3Gain-
GTF2F2-
-
-
-
1Loss-
GTF3A-
-
-
-
1Loss-
GTF3C1-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GTSF1-
-
-
-
1Loss-
GUCA1C-
-
-
-
3Gain-
GUCA2A-
-
-
-
5Amp-
GUCA2B-
-
-
-
5Amp-
GUCY2D-
-
-
-
3Gain-
GVQW3-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
GYS2p.R386Q
Missense
SNP
0.687
2--
H1FNT-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFX-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H3F3B-
-
-
-
3Gain-
H6PD-
-
-
-
5Amp-
HACD2-
-
-
-
3Gain-
HAGH-
-
-
-
1Loss-
HAGHL-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAO2p.E330K
Missense
SNP
0.213
5Amp-
HAS3-
-
-
-
1Loss-
HASPIN-
-
-
-
3Gain-
HAUS1-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBA1-
-
-
-
1Loss-
HBA2-
-
-
-
1Loss-
HBM-
-
-
-
1Loss-
HBQ1-
-
-
-
1Loss-
HBZ-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HCLS1-
-
-
-
3Gain-
HCN2p.E598K
Missense
SNP
0.401
2--
HCN4p.P281L
Missense
SNP
0.451
1Loss-
HCRTR1-
-
-
-
5Amp-
HCRTR2-
-
-
-
3Gain-
HDAC1-
-
-
-
5Amp-
HDAC3-
-
-
-
1Loss-
HDAC7-
-
-
-
1Loss-
HDGFL1-
-
-
-
3Gain-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD5-
-
-
-
1Loss-
HEATR3-
-
-
-
1Loss-
HEATR6-
-
-
-
3Gain-
HECTD3-
-
-
-
5Amp-
HEG1-
-
-
-
3Gain-
HELQ-
-
-
-
1Loss-
HELZ-
-
-
-
3Gain-
HELZ2p.Q369H
Missense
SNP
0.611
2--
HENMT1-
-
-
-
5Amp-
HEPACAM-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HES1-
-
-
-
3Gain-
HES2-
-
-
-
5Amp-
HES3-
-
-
-
5Amp-
HES4-
-
-
-
5Amp-
HES5-
-
-
-
5Amp-
HES7-
-
-
-
3Gain-
HEXA-
-
-
-
1Loss-
HEXDC-
-
-
-
1Loss-
HEYL-
-
-
-
5Amp-
HFE-
-
-
-
3Gain-
HFM1-
-
-
-
5Amp-
HGD-
-
-
-
3Gain-
HGFAC-
-
-
-
1Loss-
HGH1-
-
-
-
1Loss-
HGS-
-
-
-
1Loss-
HHLA2-
-
-
-
3Gain-
HHLA3-
-
-
-
5Amp-
HIC1-
-
-
-
3Gain-
HIC2-
-
-
-
1Loss-
HID1-
-
-
-
3Gain-
HIGD1C-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HINFP-
-
-
-
1Loss-
HIPK1-
-
-
-
5Amp-
HIRA-
-
-
-
1Loss-
HIRIP3-
-
-
-
1Loss-
HIST1H1A-
-
-
-
3Gain-
HIST1H1B-
-
-
-
3Gain-
HIST1H1C-
-
-
-
3Gain-
HIST1H1D-
-
-
-
3Gain-
HIST1H1E-
-
-
-
3Gain-
HIST1H1T-
-
-
-
3Gain-
HIST1H2AA-
-
-
-
3Gain-
HIST1H2AB-
-
-
-
3Gain-
HIST1H2AC-
-
-
-
3Gain-
HIST1H2AD-
-
-
-
3Gain-
HIST1H2AE-
-
-
-
3Gain-
HIST1H2AG-
-
-
-
3Gain-
HIST1H2AH-
-
-
-
3Gain-
HIST1H2AI-
-
-
-
3Gain-
HIST1H2AJ-
-
-
-
3Gain-
HIST1H2AK-
-
-
-
3Gain-
HIST1H2AL-
-
-
-
3Gain-
HIST1H2AM-
-
-
-
3Gain-
HIST1H2BA-
-
-
-
3Gain-
HIST1H2BB-
-
-
-
3Gain-
HIST1H2BC-
-
-
-
3Gain-
HIST1H2BD-
-
-
-
3Gain-
HIST1H2BE-
-
-
-
3Gain-
HIST1H2BF-
-
-
-
3Gain-
HIST1H2BG-
-
-
-
3Gain-
HIST1H2BH-
-
-
-
3Gain-
HIST1H2BI-
-
-
-
3Gain-
HIST1H2BJ-
-
-
-
3Gain-
HIST1H2BK-
-
-
-
3Gain-
HIST1H2BL-
-
-
-
3Gain-
HIST1H2BM-
-
-
-
3Gain-
HIST1H2BN-
-
-
-
3Gain-
HIST1H2BO-
-
-
-
3Gain-
HIST1H3A-
-
-
-
3Gain-
HIST1H3B-
-
-
-
3Gain-
HIST1H3C-
-
-
-
3Gain-
HIST1H3D-
-
-
-
3Gain-
HIST1H3E-
-
-
-
3Gain-
HIST1H3F-
-
-
-
3Gain-
HIST1H3G-
-
-
-
3Gain-
HIST1H3H-
-
-
-
3Gain-
HIST1H3I-
-
-
-
3Gain-
HIST1H3J-
-
-
-
3Gain-
HIST1H4A-
-
-
-
3Gain-
HIST1H4B-
-
-
-
3Gain-
HIST1H4C-
-
-
-
3Gain-
HIST1H4D-
-
-
-
3Gain-
HIST1H4E-
-
-
-
3Gain-
HIST1H4F-
-
-
-
3Gain-
HIST1H4G-
-
-
-
3Gain-
HIST1H4H-
-
-
-
3Gain-
HIST1H4I-
-
-
-
3Gain-
HIST1H4J-
-
-
-
3Gain-
HIST1H4K-
-
-
-
3Gain-
HIST1H4L-
-
-
-
3Gain-
HIST3H3p.E98K
Missense
SNP
0.668
2--
HIVEP1-
-
-
-
3Gain-
HIVEP3-
-
-
-
5Amp-
HLF-
-
-
-
3Gain-
HLTF-
-
-
-
3Gain-
HMBS-
-
-
-
1Loss-
HMCES-
-
-
-
3Gain-
HMG20A-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGB4-
-
-
-
5Amp-
HMGCL-
-
-
-
5Amp-
HMGCLL1p.E67K
Missense
SNP
0.486
3Gain-
HMGCS2-
-
-
-
5Amp-
HMGN2-
-
-
-
5Amp-
HMGN4-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HNRNPA1-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
5Amp-
HNRNPCL2p.S13F
Missense
SNP
0.873
5Amp-
HNRNPCL3-
-
-
-
5Amp-
HNRNPCL4-
-
-
-
5Amp-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPR-
-
-
-
5Amp-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOOK1-
-
-
-
5Amp-
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HP-
-
-
-
1Loss-
HP1BP3-
-
-
-
5Amp-
HPCA-
-
-
-
5Amp-
HPCAL4-
-
-
-
5Amp-
HPDL-
-
-
-
5Amp-
HPGDS-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS3-
-
-
-
3Gain-
HPSE-
-
-
-
1Loss-
HRp.R139W
Missense
SNP
0.448
2--
HRASLS-
-
-
-
3Gain-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRGp.P317L
Missense
SNP
0.305
3Gain-
HRNR-
-
-
-
3Gain-
HS2ST1-
-
-
-
5Amp-
HS3ST2-
-
-
-
1Loss-
HS3ST3A1p.G369S
Missense
SNP
0.525
3Gain-
HS3ST3B1-
-
-
-
3Gain-
HS3ST4-
-
-
-
1Loss-
HS3ST6-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B6-
-
-
-
1Loss-
HSD3B1-
-
-
-
5Amp-
HSD3B2-
-
-
-
5Amp-
HSD3B7-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF1-
-
-
-
1Loss-
HSF2p.T446I
Missense
SNP
0.444
2--
HSF4-
-
-
-
1Loss-
HSF5-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPB11-
-
-
-
5Amp-
HSPB7-
-
-
-
5Amp-
HSPBAP1-
-
-
-
3Gain-
HSPG2-
-
-
-
5Amp-
HSPH1-
-
-
-
1Loss-
HTR1D-
-
-
-
5Amp-
HTR2A-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR6-
-
-
-
5Amp-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUS1B-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
HYI-
-
-
-
5Amp-
HYKK-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IBSP-
-
-
-
1Loss-
ICAM2-
-
-
-
3Gain-
ICK-
-
-
-
3Gain-
ICMT-
-
-
-
5Amp-
ID3-
-
-
-
5Amp-
ID4-
-
-
-
3Gain-
IDH3A-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFFO2-
-
-
-
5Amp-
IFI44-
-
-
-
5Amp-
IFI44L-
-
-
-
5Amp-
IFI6-
-
-
-
5Amp-
IFNLR1-
-
-
-
5Amp-
IFT122-
-
-
-
3Gain-
IFT140-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT57-
-
-
-
3Gain-
IFT80-
-
-
-
3Gain-
IFT88-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGFALS-
-
-
-
1Loss-
IGFBP6-
-
-
-
1Loss-
IGFN1-
-
-
-
1Loss-
IGHMBP2-
-
-
-
1Loss-
IGHV3OR16-9-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF21-
-
-
-
5Amp-
IGSF3-
-
-
-
5Amp-
IGSF6-
-
-
-
1Loss-
IGSF9B-
-
-
-
1Loss-
IKBIP-
-
-
-
3Gain-
IKBKE-
-
-
-
1Loss-
IKZF4-
-
-
-
1Loss-
IL10-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL12A-
-
-
-
3Gain-
IL12RB2-
-
-
-
5Amp-
IL16-
-
-
-
1Loss-
IL17A-
-
-
-
3Gain-
IL17B-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL17F-
-
-
-
3Gain-
IL17RA-
-
-
-
1Loss-
IL18BP-
-
-
-
1Loss-
IL19-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL20-
-
-
-
1Loss-
IL20RB-
-
-
-
3Gain-
IL21R-
-
-
-
1Loss-
IL22RA1-
-
-
-
5Amp-
IL23A-
-
-
-
1Loss-
IL23R-
-
-
-
5Amp-
IL24-
-
-
-
1Loss-
IL27-
-
-
-
1Loss-
IL32-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
ILDR1p.E534K
Missense
SNP
0.276
3Gain-
IMP3-
-
-
-
1Loss-
IMPA2-
-
-
-
3Gain-
IMPG2-
-
-
-
3Gain-
INAVA-
-
-
-
1Loss-
INCA1-
-
-
-
3Gain-
INCENP-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INKA2-
-
-
-
5Amp-
INO80C-
-
-
-
1Loss-
INO80E-
-
-
-
1Loss-
INPP4Bp.P582S
Missense
SNP
0.717
2--
INPP5A-
-
-
-
1Loss-
INPP5B-
-
-
-
5Amp-
INPP5K-
-
-
-
3Gain-
INPPL1-
-
-
-
1Loss-
INSL5-
-
-
-
5Amp-
INSYN1-
-
-
-
1Loss-
INTS11-
-
-
-
5Amp-
INTS2-
-
-
-
3Gain-
INTS4-
-
-
-
1Loss-
INTS5-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
IPO13-
-
-
-
5Amp-
IPO5-
-
-
-
1Loss-
IPO9-
-
-
-
1Loss-
IPP-
-
-
-
5Amp-
IQANK1-
-
-
-
1Loss-
IQCB1-
-
-
-
3Gain-
IQCC-
-
-
-
5Amp-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQCK-
-
-
-
1Loss-
IREB2-
-
-
-
1Loss-
IRF4-
-
-
-
3Gain-
IRF8-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
IRX2-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX4-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISG15p.S146G
Missense
SNP
0.063
5Amp-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM2p.A472T
Missense
SNP
0.503
2--
IST1-
-
-
-
1Loss-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITGA5-
-
-
-
1Loss-
ITGA7-
-
-
-
1Loss-
ITGA8p.E164K
Missense
SNP
0.605
2--
ITGAD-
-
-
-
1Loss-
ITGAE-
-
-
-
3Gain-
ITGAL-
-
-
-
1Loss-
ITGAMp.R842Q
Missense
SNP
0.557
1Loss-
ITGAX-
-
-
-
1Loss-
ITGB3BP-
-
-
-
5Amp-
ITGB4-
-
-
-
3Gain-
ITGB5-
-
-
-
3Gain-
ITGB7-
-
-
-
1Loss-
ITGBL1-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITPRIPL2-
-
-
-
3Gain-
JAK1-
-
-
-
5Amp-
JAKMIP1-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JARID2-
-
-
-
3Gain-
JHY-
-
-
-
1Loss-
JMJD6-
-
-
-
3Gain-
JMJD8-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JPT1-
-
-
-
3Gain-
JPT2-
-
-
-
1Loss-
JRK-
-
-
-
1Loss-
JUN-
-
-
-
5Amp-
KAAG1-
-
-
-
3Gain-
KALRN-
-
-
-
3Gain-
KANK4-
-
-
-
5Amp-
KANSL2-
-
-
-
1Loss-
KARS-
-
-
-
1Loss-
KAT5-
-
-
-
1Loss-
KAT8-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KAZN-
-
-
-
5Amp-
KBTBD12-
-
-
-
3Gain-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KCNA10-
-
-
-
5Amp-
KCNA2-
-
-
-
5Amp-
KCNA3-
-
-
-
5Amp-
KCNAB1-
-
-
-
3Gain-
KCNAB2-
-
-
-
5Amp-
KCNAB3-
-
-
-
3Gain-
KCNC2-
-
-
-
3Gain-
KCNC4-
-
-
-
5Amp-
KCND3-
-
-
-
5Amp-
KCNE3-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH1p.G845E
Missense
SNP
0.327
2--
KCNH3-
-
-
-
1Loss-
KCNH6-
-
-
-
3Gain-
KCNJ1-
-
-
-
1Loss-
KCNJ12-
-
-
-
3Gain-
KCNJ16-
-
-
-
3Gain-
KCNJ18-
-
-
-
3Gain-
KCNJ2-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNK9-
-
-
-
1Loss-
KCNMA1p.Q1184*
Nonsense
SNP
0.256
2--
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNQ2p.P415S
Missense
SNP
0.523
2--
KCNQ4-
-
-
-
5Amp-
KCNRG-
-
-
-
1Loss-
KCNV1p.E442K
Missense
SNP
0.664
2--
KCTD11-
-
-
-
3Gain-
KCTD12-
-
-
-
1Loss-
KCTD13-
-
-
-
1Loss-
KCTD14-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD2-
-
-
-
3Gain-
KCTD21-
-
-
-
1Loss-
KCTD4-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDF1-
-
-
-
5Amp-
KDM1A-
-
-
-
5Amp-
KDM1B-
-
-
-
3Gain-
KDM2A-
-
-
-
1Loss-
KDM4A-
-
-
-
5Amp-
KDM5B-
-
-
-
1Loss-
KDM6B-
-
-
-
3Gain-
KDM8-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KERA-
-
-
-
3Gain-
KHDRBS1-
-
-
-
5Amp-
KIAA0232-
-
-
-
1Loss-
KIAA0319-
-
-
-
3Gain-
KIAA0319L-
-
-
-
5Amp-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
1Loss-
KIAA0753-
-
-
-
3Gain-
KIAA0895L-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1257p.D215N
Missense
SNP
0.651
3Gain-
KIAA1324-
-
-
-
5Amp-
KIAA1328-
-
-
-
1Loss-
KIAA1522-
-
-
-
5Amp-
KIAA1586-
-
-
-
3Gain-
KIAA2013-
-
-
-
5Amp-
KIF13A-
-
-
-
3Gain-
KIF17-
-
-
-
5Amp-
KIF19-
-
-
-
3Gain-
KIF1B-
-
-
-
5Amp-
KIF1C-
-
-
-
3Gain-
KIF21B-
-
-
-
1Loss-
KIF22-
-
-
-
1Loss-
KIF2C-
-
-
-
5Amp-
KIF4B-
-
-
-
1Loss-
KIF5A-
-
-
-
1Loss-
KIFC2-
-
-
-
1Loss-
KIFC3-
-
-
-
1Loss-
KIR2DS4p.R205L
Missense
SNP
0.528
NDND-
KIRREL3-
-
-
-
1Loss-
KISS1-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLC2-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF17-
-
-
-
5Amp-
KLF5-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHDC7A-
-
-
-
5Amp-
KLHDC7B-
-
-
-
1Loss-
KLHDC8A-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL12-
-
-
-
1Loss-
KLHL17-
-
-
-
5Amp-
KLHL21-
-
-
-
5Amp-
KLHL22-
-
-
-
1Loss-
KLHL24-
-
-
-
3Gain-
KLHL25-
-
-
-
3Gain-
KLHL31-
-
-
-
3Gain-
KLHL35-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLK14p.S186F
Missense
SNP
0.427
2--
KMT2A-
-
-
-
1Loss-
KMT2Cp.S4626N
Missense
SNP
0.417
2--
KMT2D-
-
-
-
1Loss-
KMT5B-
-
-
-
1Loss-
KNCN-
-
-
-
5Amp-
KNDC1p.G1451S
Missense
SNP
0.306
1Loss-
KNG1-
-
-
-
3Gain-
KNOP1-
-
-
-
1Loss-
KPNA1-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNA4-
-
-
-
3Gain-
KPNA6-
-
-
-
5Amp-
KPNA7p.L247F
Missense
SNP
0.474
2--
KRBA2-
-
-
-
3Gain-
KREMEN2-
-
-
-
1Loss-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
1Loss-
KRT18-
-
-
-
1Loss-
KRT2-
-
-
-
1Loss-
KRT23p.E346K
Missense
SNP
1.000
2--
KRT3-
-
-
-
1Loss-
KRT4-
-
-
-
1Loss-
KRT5-
-
-
-
1Loss-
KRT6A-
-
-
-
1Loss-
KRT6B-
-
-
-
1Loss-
KRT6C-
-
-
-
1Loss-
KRT7-
-
-
-
1Loss-
KRT71-
-
-
-
1Loss-
KRT72-
-
-
-
1Loss-
KRT73-
-
-
-
1Loss-
KRT74p.G100E
Missense
SNP
0.653
1Loss-
KRT75-
-
-
-
1Loss-
KRT76-
-
-
-
1Loss-
KRT77-
-
-
-
1Loss-
KRT78-
-
-
-
1Loss-
KRT79-
-
-
-
1Loss-
KRT8-
-
-
-
1Loss-
KRT80-
-
-
-
1Loss-
KRT81-
-
-
-
1Loss-
KRT82-
-
-
-
1Loss-
KRT83-
-
-
-
1Loss-
KRT84p.E294K
Missense
SNP
0.192
1Loss-
KRT85-
-
-
-
1Loss-
KRT86-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KSR1p.P290S
Missense
SNP
1.000
2--
KTI12-
-
-
-
5Amp-
KY-
-
-
-
3Gain-
KYAT3-
-
-
-
5Amp-
L1TD1-
-
-
-
5Amp-
L3MBTL4-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LACRT-
-
-
-
1Loss-
LACTBL1-
-
-
-
5Amp-
LAD1-
-
-
-
1Loss-
LALBA-
-
-
-
1Loss-
LAMA1-
-
-
-
3Gain-
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAMTOR1-
-
-
-
1Loss-
LAMTOR3-
-
-
-
1Loss-
LAMTOR5-
-
-
-
5Amp-
LAPTM5-
-
-
-
5Amp-
LARP1-
-
-
-
1Loss-
LARP4-
-
-
-
1Loss-
LARP6-
-
-
-
1Loss-
LAT-
-
-
-
1Loss-
LATS2-
-
-
-
1Loss-
LAX1-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCK-
-
-
-
5Amp-
LCMT1-
-
-
-
1Loss-
LCN9p.E98K
Missense
SNP
0.410
2--
LCP1-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD1-
-
-
-
5Amp-
LDLRAD2-
-
-
-
5Amp-
LDLRAD4-
-
-
-
3Gain-
LDLRAP1-
-
-
-
5Amp-
LEKR1-
-
-
-
3Gain-
LEMD1-
-
-
-
1Loss-
LEPR-
-
-
-
5Amp-
LEPROT-
-
-
-
5Amp-
LETM1-
-
-
-
1Loss-
LETMD1-
-
-
-
1Loss-
LEXM-
-
-
-
5Amp-
LGALS12-
-
-
-
1Loss-
LGALS3BP-
-
-
-
1Loss-
LGALS9Bp.G80E
Missense
SNP
0.571
3Gain-
LGALS9C-
-
-
-
3Gain-
LGR6-
-
-
-
1Loss-
LGSNp.D322N
Missense
SNP
0.448
2--
LHFPL6-
-
-
-
1Loss-
LHX8p.G40E
Missense
SNP
0.100
5Amp-
LIG4-
-
-
-
1Loss-
LILRB4p.D61N
Missense
SNP
0.524
2--
LIMA1-
-
-
-
1Loss-
LIMD2-
-
-
-
3Gain-
LIN28A-
-
-
-
5Amp-
LIN54-
-
-
-
1Loss-
LINGO1-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LIPT2-
-
-
-
1Loss-
LITAF-
-
-
-
8Amp-
LLGL1-
-
-
-
3Gain-
LLGL2-
-
-
-
3Gain-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMBR1L-
-
-
-
1Loss-
LMF1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMO4-
-
-
-
5Amp-
LMO7-
-
-
-
1Loss-
LMOD1-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LNX2-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LOXHD1p.P10S
Missense
SNP
0.371
1Loss-
LOXL1-
-
-
-
1Loss-
LPAp.G1316S
Missense
SNP
0.727
2--
LPAR3-
-
-
-
5Amp-
LPAR6-
-
-
-
1Loss-
LPCAT1-
-
-
-
1Loss-
LPCAT2-
-
-
-
1Loss-
LPO-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LPXN-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRCH3p.L613F
Missense
SNP
0.632
3Gain-
LRFN4-
-
-
-
1Loss-
LRIF1-
-
-
-
5Amp-
LRIG2-
-
-
-
5Amp-
LRP1p.P776H
Missense
SNP
0.661
1Loss-
LRP1Bp.R855K
p.G649E
Missense
Missense
SNP
SNP
0.459
0.470
2--
LRP2p.R4065Q
Missense
SNP
0.495
2--
LRP5-
-
-
-
1Loss-
LRP8-
-
-
-
5Amp-
LRPAP1-
-
-
-
1Loss-
LRRC1-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC10B-
-
-
-
1Loss-
LRRC14-
-
-
-
1Loss-
LRRC14B-
-
-
-
1Loss-
LRRC15-
-
-
-
3Gain-
LRRC24-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC30-
-
-
-
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC32-
-
-
-
1Loss-
LRRC34-
-
-
-
3Gain-
LRRC36-
-
-
-
1Loss-
LRRC37A3-
-
-
-
3Gain-
LRRC38-
-
-
-
5Amp-
LRRC39-
-
-
-
5Amp-
LRRC40-
-
-
-
5Amp-
LRRC41-
-
-
-
5Amp-
LRRC42-
-
-
-
5Amp-
LRRC45-
-
-
-
1Loss-
LRRC47-
-
-
-
5Amp-
LRRC49-
-
-
-
1Loss-
LRRC53-
-
-
-
5Amp-
LRRC55-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC66p.E605K
Missense
SNP
0.617
2--
LRRC7p.S797L
p.P870Q
Missense
Missense
SNP
SNP
0.134
0.128
5Amp-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
3Gain-
LRRC8B-
-
-
-
5Amp-
LRRC8C-
-
-
-
5Amp-
LRRC8D-
-
-
-
5Amp-
LRRIQ1-
-
-
-
1Loss-
LRRIQ3-
-
-
-
5Amp-
LRRIQ4-
-
-
-
3Gain-
LRRN2-
-
-
-
1Loss-
LRRN4CL-
-
-
-
1Loss-
LRTOMT-
-
-
-
1Loss-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM10-
-
-
-
5Amp-
LSM11-
-
-
-
1Loss-
LSSp.S408L
Missense
SNP
0.500
2--
LTBP3-
-
-
-
1Loss-
LTO1-
-
-
-
1Loss-
LUC7L-
-
-
-
1Loss-
LUM-
-
-
-
3Gain-
LURAP1-
-
-
-
5Amp-
LUZP1-
-
-
-
5Amp-
LXN-
-
-
-
3Gain-
LY6D-
-
-
-
1Loss-
LY6E-
-
-
-
1Loss-
LY6H-
-
-
-
1Loss-
LY6K-
-
-
-
1Loss-
LY6L-
-
-
-
1Loss-
LY86-
-
-
-
3Gain-
LYAR-
-
-
-
1Loss-
LYNX1-
-
-
-
1Loss-
LYNX1-SLURP2-
-
-
-
1Loss-
LYPD2-
-
-
-
1Loss-
LYPD3p.T256I
Missense
SNP
0.473
2--
LYPLA2-
-
-
-
5Amp-
LYRM1-
-
-
-
1Loss-
LYRM4-
-
-
-
3Gain-
LYZ-
-
-
-
3Gain-
LZIC-
-
-
-
5Amp-
LZTR1-
-
-
-
1Loss-
MAATS1-
-
-
-
3Gain-
MAB21L1-
-
-
-
1Loss-
MAB21L3-
-
-
-
5Amp-
MACF1-
-
-
-
5Amp-
MACO1-
-
-
-
5Amp-
MACROD1-
-
-
-
1Loss-
MAD2L2-
-
-
-
5Amp-
MAEA-
-
-
-
1Loss-
MAF-
-
-
-
1Loss-
MAF1p.Y32C
Missense
SNP
0.373
1Loss-
MAFA-
-
-
-
1Loss-
MAFG-
-
-
-
1Loss-
MAGEC1p.P131S
Missense
SNP
1.000
NDND-
MAGEF1-
-
-
-
3Gain-
MAGI3-
-
-
-
5Amp-
MAGOH-
-
-
-
5Amp-
MAJIN-
-
-
-
1Loss-
MAK-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAN1A2-
-
-
-
5Amp-
MAN1C1-
-
-
-
5Amp-
MAN2A2p.D153N
Missense
SNP
0.175
2--
MAN2B2-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANEAL-
-
-
-
5Amp-
MAP1LC3B-
-
-
-
1Loss-
MAP2K3-
-
-
-
3Gain-
MAP2K4-
-
-
-
3Gain-
MAP2K6-
-
-
-
3Gain-
MAP3K1p.S992F
Missense
SNP
0.324
2--
MAP3K11-
-
-
-
1Loss-
MAP3K12-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP3K6-
-
-
-
5Amp-
MAP4K2-
-
-
-
1Loss-
MAP6-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAP7D1-
-
-
-
5Amp-
MAPK1-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK15-
-
-
-
1Loss-
MAPK3-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK7-
-
-
-
3Gain-
MAPK8IP2-
-
-
-
1Loss-
MAPK8IP3-
-
-
-
1Loss-
MAPK9p.S392L
Missense
SNP
0.485
2--
MAPKAPK2-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MARCH10-
-
-
-
3Gain-
MARCH9-
-
-
-
1Loss-
MARCKSL1-
-
-
-
5Amp-
MARF1-
-
-
-
8Amp-
MARK2-
-
-
-
1Loss-
MARS-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MASP1p.R637C
Missense
SNP
0.656
3Gain-
MASP2-
-
-
-
5Amp-
MAST2-
-
-
-
5Amp-
MAST4p.P825S
Missense
SNP
0.263
2--
MATN1-
-
-
-
5Amp-
MAZ-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD4-
-
-
-
3Gain-
MBD6-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBNL2-
-
-
-
1Loss-
MBOAT1-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC2R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
3Gain-
MCAM-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCF2L-
-
-
-
1Loss-
MCF2L2-
-
-
-
3Gain-
MCM2-
-
-
-
3Gain-
MCM3-
-
-
-
3Gain-
MCOLN2-
-
-
-
5Amp-
MCOLN3-
-
-
-
5Amp-
MCRIP1-
-
-
-
1Loss-
MCRIP2-
-
-
-
1Loss-
MCRS1-
-
-
-
1Loss-
MCUR1-
-
-
-
3Gain-
MDM4-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MEAF6-
-
-
-
5Amp-
MECOM-
-
-
-
3Gain-
MECR-
-
-
-
5Amp-
MED11-
-
-
-
3Gain-
MED12L-
-
-
-
3Gain-
MED13-
-
-
-
3Gain-
MED15-
-
-
-
1Loss-
MED16p.F155L
Missense
SNP
0.568
2--
MED18-
-
-
-
5Amp-
MED19-
-
-
-
1Loss-
MED31-
-
-
-
3Gain-
MED4-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED8-
-
-
-
5Amp-
MED9-
-
-
-
3Gain-
MEDAG-
-
-
-
1Loss-
MEFV-
-
-
-
1Loss-
MEGF6-
-
-
-
5Amp-
MEGF8p.S1160F
Missense
SNP
0.463
2--
MEIOB-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEN1-
-
-
-
1Loss-
MEP1A-
-
-
-
3Gain-
MEPEp.D371N
Missense
SNP
1.000
1Loss-
MESD-
-
-
-
1Loss-
METAP1-
-
-
-
1Loss-
METRN-
-
-
-
1Loss-
METRNL-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL16-
-
-
-
3Gain-
METTL21C-
-
-
-
1Loss-
METTL23-
-
-
-
3Gain-
METTL25-
-
-
-
1Loss-
METTL26-
-
-
-
1Loss-
METTL2A-
-
-
-
3Gain-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
METTL9-
-
-
-
1Loss-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP2-
-
-
-
5Amp-
MFAP3-
-
-
-
1Loss-
MFAP4-
-
-
-
3Gain-
MFN1-
-
-
-
3Gain-
MFN2-
-
-
-
5Amp-
MFRP-
-
-
-
1Loss-
MFSD1-
-
-
-
3Gain-
MFSD10-
-
-
-
1Loss-
MFSD11-
-
-
-
3Gain-
MFSD14A-
-
-
-
5Amp-
MFSD2A-
-
-
-
5Amp-
MFSD3-
-
-
-
1Loss-
MFSD4A-
-
-
-
1Loss-
MFSD5-
-
-
-
1Loss-
MGAT5B-
-
-
-
3Gain-
MGLL-
-
-
-
3Gain-
MGRN1-
-
-
-
1Loss-
MIB2-
-
-
-
5Amp-
MICAL3-
-
-
-
1Loss-
MICU2-
-
-
-
1Loss-
MIEF2-
-
-
-
3Gain-
MIER1-
-
-
-
5Amp-
MIF4GD-
-
-
-
3Gain-
MIGA1-
-
-
-
5Amp-
MIIP-
-
-
-
5Amp-
MILR1-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MINK1-
-
-
-
3Gain-
MINOS1-
-
-
-
5Amp-
MINOS1-NBL1-
-
-
-
5Amp-
MIOX-
-
-
-
1Loss-
MIP-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MIS12-
-
-
-
3Gain-
MKNK1-
-
-
-
5Amp-
MKS1-
-
-
-
3Gain-
MLF1-
-
-
-
3Gain-
MLIP-
-
-
-
3Gain-
MLKL-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLST8-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMACHC-
-
-
-
5Amp-
MMD-
-
-
-
3Gain-
MME-
-
-
-
3Gain-
MMEL1-
-
-
-
5Amp-
MMP1p.P266S
Missense
SNP
0.602
2--
MMP15-
-
-
-
1Loss-
MMP19-
-
-
-
1Loss-
MMP2-
-
-
-
1Loss-
MMP23B-
-
-
-
5Amp-
MMP25-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MNT-
-
-
-
3Gain-
MOB3C-
-
-
-
5Amp-
MOCOS-
-
-
-
1Loss-
MOGAT2-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MORC1-
-
-
-
3Gain-
MORF4L1-
-
-
-
1Loss-
MORN1-
-
-
-
5Amp-
MOSMO-
-
-
-
1Loss-
MOV10-
-
-
-
5Amp-
MOV10L1p.D697N
Missense
SNP
0.301
2--
MPDU1-
-
-
-
3Gain-
MPEG1-
-
-
-
1Loss-
MPG-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPL-
-
-
-
5Amp-
MPO-
-
-
-
3Gain-
MPPE1-
-
-
-
3Gain-
MPRIP-
-
-
-
3Gain-
MPV17L-
-
-
-
8Amp-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRC2-
-
-
-
3Gain-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGPRD-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRM3-
-
-
-
3Gain-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
1Loss-
MROH2Bp.V109F
Missense
SNP
0.271
2--
MROH5-
-
-
-
1Loss-
MROH6-
-
-
-
1Loss-
MROH7-
-
-
-
5Amp-
MROH7-TTC4-
-
-
-
5Amp-
MRPL1-
-
-
-
1Loss-
MRPL11-
-
-
-
1Loss-
MRPL12-
-
-
-
1Loss-
MRPL16-
-
-
-
1Loss-
MRPL20-
-
-
-
5Amp-
MRPL21-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL28-
-
-
-
1Loss-
MRPL3-
-
-
-
3Gain-
MRPL36-
-
-
-
1Loss-
MRPL37-
-
-
-
5Amp-
MRPL38-
-
-
-
3Gain-
MRPL40-
-
-
-
1Loss-
MRPL47-
-
-
-
3Gain-
MRPL48-
-
-
-
1Loss-
MRPL49-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPL58-
-
-
-
3Gain-
MRPS15-
-
-
-
5Amp-
MRPS18C-
-
-
-
1Loss-
MRPS22-
-
-
-
3Gain-
MRPS23-
-
-
-
3Gain-
MRPS31-
-
-
-
1Loss-
MRPS34-
-
-
-
1Loss-
MRPS7-
-
-
-
3Gain-
MRS2-
-
-
-
3Gain-
MRTFB-
-
-
-
8Amp-
MRTO4-
-
-
-
5Amp-
MS4A1p.E205K
Missense
SNP
0.243
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-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSH4-
-
-
-
5Amp-
MSI2-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSLN-
-
-
-
1Loss-
MSLNL-
-
-
-
1Loss-
MSRB1-
-
-
-
1Loss-
MSX1-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTA2-
-
-
-
1Loss-
MTCL1-
-
-
-
3Gain-
MTF1-
-
-
-
5Amp-
MTF2-
-
-
-
5Amp-
MTFR1L-
-
-
-
5Amp-
MTG1-
-
-
-
1Loss-
MTHFD2L-
-
-
-
1Loss-
MTHFR-
-
-
-
5Amp-
MTHFS-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR11p.Q631*
Nonsense
SNP
0.178
2--
MTMR4-
-
-
-
3Gain-
MTMR6-
-
-
-
1Loss-
MTOR-
-
-
-
5Amp-
MTRp.R1132W
Missense
SNP
0.677
2--
MTRF1-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTUS2-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC16p.M11191I
p.E7661K
p.A6186T
p.G431E
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.472
0.519
0.452
0.497
2--
MUC20-
-
-
-
3Gain-
MUC4-
-
-
-
3Gain-
MUCL1-
-
-
-
1Loss-
MUL1-
-
-
-
5Amp-
MUS81-
-
-
-
1Loss-
MUSKp.R189Q
Missense
SNP
0.422
2--
MUT-
-
-
-
3Gain-
MUTYH-
-
-
-
5Amp-
MVD-
-
-
-
1Loss-
MVP-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MXRA7-
-
-
-
3Gain-
MXRA8-
-
-
-
5Amp-
MYADML2-
-
-
-
1Loss-
MYBBP1A-
-
-
-
3Gain-
MYBPC2p.S546W
Missense
SNP
0.505
2--
MYBPH-
-
-
-
1Loss-
MYBPHL-
-
-
-
5Amp-
MYCBP-
-
-
-
5Amp-
MYCBP2-
-
-
-
1Loss-
MYCL-
-
-
-
5Amp-
MYEOV-
-
-
-
1Loss-
MYH1-
-
-
-
3Gain-
MYH10-
-
-
-
3Gain-
MYH11-
-
-
-
8Amp-
MYH13-
-
-
-
3Gain-
MYH15-
-
-
-
3Gain-
MYH2p.E868K
Missense
SNP
0.621
3Gain-
MYH3-
-
-
-
3Gain-
MYH4-
-
-
-
3Gain-
MYH8-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYLIP-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYLK3-
-
-
-
1Loss-
MYLK4-
-
-
-
3Gain-
MYLPF-
-
-
-
1Loss-
MYNN-
-
-
-
3Gain-
MYO15A-
-
-
-
3Gain-
MYO15B-
-
-
-
3Gain-
MYO16-
-
-
-
1Loss-
MYO1A-
-
-
-
1Loss-
MYO1C-
-
-
-
3Gain-
MYO5B-
-
-
-
1Loss-
MYO7A-
-
-
-
1Loss-
MYO7Bp.R206C
Missense
SNP
0.441
2--
MYO9A-
-
-
-
1Loss-
MYOCD-
-
-
-
3Gain-
MYOG-
-
-
-
1Loss-
MYOM3p.Q1156*
Nonsense
SNP
0.131
5Amp-
MYOZ3-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYRFL-
-
-
-
3Gain-
MYSM1-
-
-
-
5Amp-
MZT1-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA38-
-
-
-
3Gain-
NAA40-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAA60-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NAB2-
-
-
-
1Loss-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NACA2-
-
-
-
3Gain-
NADK-
-
-
-
5Amp-
NADSYN1-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAGPA-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NAP1L1-
-
-
-
3Gain-
NAP1L5-
-
-
-
1Loss-
NAPG-
-
-
-
3Gain-
NAPRT-
-
-
-
1Loss-
NARF-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NARS2-
-
-
-
1Loss-
NASP-
-
-
-
5Amp-
NAT8L-
-
-
-
1Loss-
NAT9-
-
-
-
3Gain-
NATD1-
-
-
-
3Gain-
NAV1-
-
-
-
1Loss-
NAV3p.D1198Y
Missense
SNP
0.675
3Gain-
NAXD-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBL1-
-
-
-
5Amp-
NBPF1-
-
-
-
5Amp-
NBPF26-
-
-
-
5Amp-
NBPF3-
-
-
-
5Amp-
NBPF4-
-
-
-
5Amp-
NBPF6-
-
-
-
5Amp-
NCAPD3-
-
-
-
1Loss-
NCAPH2-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCBP3-
-
-
-
3Gain-
NCDN-
-
-
-
5Amp-
NCEH1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
1Loss-
NCKAP5p.R120Q
Missense
SNP
0.450
2--
NCKAP5L-
-
-
-
1Loss-
NCMAP-
-
-
-
5Amp-
NCOR1-
-
-
-
3Gain-
NCOR2p.D2496E
Missense
SNP
0.681
2--
NDC1-
-
-
-
5Amp-
NDE1-
-
-
-
8Amp-
NDEL1-
-
-
-
3Gain-
NDFIP2-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDUFA4L2-
-
-
-
1Loss-
NDUFAB1-
-
-
-
1Loss-
NDUFAF8-
-
-
-
1Loss-
NDUFB10-
-
-
-
1Loss-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS5-
-
-
-
5Amp-
NDUFS6-
-
-
-
1Loss-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NDUFV2-
-
-
-
3Gain-
NECAB2-
-
-
-
1Loss-
NECAP2-
-
-
-
5Amp-
NECTIN1-
-
-
-
1Loss-
NECTIN3-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEDD9-
-
-
-
3Gain-
NEGR1-
-
-
-
5Amp-
NEIL1-
-
-
-
1Loss-
NEK11-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NEMP1-
-
-
-
1Loss-
NEO1-
-
-
-
1Loss-
NEPRO-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEURL4-
-
-
-
3Gain-
NEUROD4-
-
-
-
1Loss-
NEXN-
-
-
-
5Amp-
NF1p.G2001E
Missense
SNP
0.980
2--
NFASCp.E111K
Missense
SNP
0.312
1Loss-
NFAT5p.S719N
Missense
SNP
0.681
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2IP-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFE2-
-
-
-
1Loss-
NFIA-
-
-
-
5Amp-
NFKBIZ-
-
-
-
3Gain-
NFRKB-
-
-
-
1Loss-
NFYC-
-
-
-
5Amp-
NGF-
-
-
-
5Amp-
NHLH2-
-
-
-
5Amp-
NHLRC1-
-
-
-
3Gain-
NHLRC3-
-
-
-
1Loss-
NHLRC4-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPAL3-
-
-
-
5Amp-
NIPAL4-
-
-
-
1Loss-
NIT2-
-
-
-
3Gain-
NKAIN1-
-
-
-
5Amp-
NKAPL-
-
-
-
3Gain-
NKD1-
-
-
-
1Loss-
NKD2-
-
-
-
1Loss-
NKX1-1-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLGN2-
-
-
-
3Gain-
NLRC3-
-
-
-
1Loss-
NLRC5-
-
-
-
1Loss-
NLRP1-
-
-
-
3Gain-
NLRP14p.G434R
Missense
SNP
0.457
2--
NLRX1-
-
-
-
1Loss-
NMB-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME3-
-
-
-
1Loss-
NME4-
-
-
-
1Loss-
NME9-
-
-
-
3Gain-
NMNAT1-
-
-
-
5Amp-
NMNAT3-
-
-
-
3Gain-
NMRAL1-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOC2L-
-
-
-
5Amp-
NOD2-
-
-
-
1Loss-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL3-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL7-
-
-
-
3Gain-
NOL9-
-
-
-
5Amp-
NOMO1-
-
-
-
8Amp-
NOMO2-
-
-
-
6Amp-
NOMO3-
-
-
-
8Amp-
NOP14-
-
-
-
1Loss-
NOS3p.S44F
Missense
SNP
0.500
2--
NOTCH1p.Q300*
Nonsense
SNP
0.998
2--
NOTCH2-
-
-
-
5Amp-
NOTCH3p.R1036*
Nonsense
SNP
0.547
2--
NOTUM-
-
-
-
1Loss-
NOXO1-
-
-
-
1Loss-
NPAS4-
-
-
-
1Loss-
NPB-
-
-
-
1Loss-
NPFF-
-
-
-
1Loss-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPHP4-
-
-
-
5Amp-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPIPB2-
-
-
-
8Amp-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPLOC4-
-
-
-
1Loss-
NPPA-
-
-
-
5Amp-
NPPB-
-
-
-
5Amp-
NPRL3-
-
-
-
1Loss-
NPTN-
-
-
-
1Loss-
NPTX1-
-
-
-
1Loss-
NPW-
-
-
-
1Loss-
NPY1Rp.P223L
Missense
SNP
0.336
2--
NQO1-
-
-
-
1Loss-
NQO2-
-
-
-
3Gain-
NR0B2-
-
-
-
5Amp-
NR1I2-
-
-
-
3Gain-
NR2E3-
-
-
-
1Loss-
NR3C2p.M668I
Missense
SNP
0.761
2--
NR4A1-
-
-
-
1Loss-
NRASp.R68S
p.G13D
Missense
Missense
SNP
SNP
0.302
0.812
5Amp-
NRBP2-
-
-
-
1Loss-
NRDC-
-
-
-
5Amp-
NRG4-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRN1-
-
-
-
3Gain-
NRN1L-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRSN1-
-
-
-
3Gain-
NRXN1p.P1413L
Missense
SNP
0.472
2--
NRXN2-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSMCE1-
-
-
-
1Loss-
NSUN3-
-
-
-
3Gain-
NSUN4-
-
-
-
5Amp-
NT5C-
-
-
-
3Gain-
NT5C1A-
-
-
-
5Amp-
NT5M-
-
-
-
3Gain-
NTAN1-
-
-
-
8Amp-
NTHL1-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN1-
-
-
-
3Gain-
NTN3-
-
-
-
1Loss-
NTNG1-
-
-
-
5Amp-
NUAK2-
-
-
-
1Loss-
NUBP1-
-
-
-
8Amp-
NUBP2-
-
-
-
1Loss-
NUCKS1-
-
-
-
1Loss-
NUDC-
-
-
-
5Amp-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
3Gain-
NUDT16L1-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT22-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUDT8-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUMA1-
-
-
-
1Loss-
NUP153-
-
-
-
3Gain-
NUP54-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUP85-
-
-
-
3Gain-
NUP88-
-
-
-
3Gain-
NUP93-
-
-
-
1Loss-
NUPR1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NXF1-
-
-
-
1Loss-
NXN-
-
-
-
3Gain-
NXPE2-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NXPH4-
-
-
-
1Loss-
OAF-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF2L-
-
-
-
5Amp-
ODF3B-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
ODF4-
-
-
-
3Gain-
OGFOD1-
-
-
-
1Loss-
OGFOD3-
-
-
-
1Loss-
OLFM3-
-
-
-
5Amp-
OLFM4-
-
-
-
1Loss-
OLFML3-
-
-
-
5Amp-
OMA1-
-
-
-
5Amp-
OMP-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPCML-
-
-
-
1Loss-
OPLAH-
-
-
-
1Loss-
OPN3p.S294L
Missense
SNP
0.610
2--
OPN5-
-
-
-
3Gain-
OPRD1-
-
-
-
5Amp-
OPTC-
-
-
-
1Loss-
OR10A7-
-
-
-
1Loss-
OR10AD1-
-
-
-
1Loss-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10P1-
-
-
-
1Loss-
OR10Q1-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR13C8p.G233E
p.E273K
Missense
Missense
SNP
SNP
0.566
0.517
2--
OR14J1-
-
-
-
3Gain-
OR1A1-
-
-
-
3Gain-
OR1A2-
-
-
-
3Gain-
OR1D2-
-
-
-
3Gain-
OR1D5-
-
-
-
3Gain-
OR1E1-
-
-
-
3Gain-
OR1E2-
-
-
-
3Gain-
OR1F1-
-
-
-
1Loss-
OR1G1p.H311Y
Missense
SNP
0.274
3Gain-
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2A14p.R121C
Missense
SNP
0.454
2--
OR2AP1-
-
-
-
1Loss-
OR2AT4-
-
-
-
1Loss-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2B6-
-
-
-
3Gain-
OR2C1-
-
-
-
1Loss-
OR2J1-
-
-
-
3Gain-
OR2J2-
-
-
-
3Gain-
OR2J3-
-
-
-
3Gain-
OR2T8p.S8F
Missense
SNP
0.316
2--
OR2W1-
-
-
-
3Gain-
OR3A1-
-
-
-
3Gain-
OR3A2-
-
-
-
3Gain-
OR3A3-
-
-
-
3Gain-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A5p.D18N
Missense
SNP
0.444
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C6p.L61P
Missense
SNP
0.309
1Loss-
OR4D1-
-
-
-
3Gain-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D2-
-
-
-
3Gain-
OR4D5p.S217L
Missense
SNP
0.587
1Loss-
OR4D6-
-
-
-
1Loss-
OR4D9p.L85F
Missense
SNP
0.354
1Loss-
OR4F5-
-
-
-
5Amp-
OR4P4-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR51T1p.T27A
Missense
SNP
0.522
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-
OR5BS1P-
-
-
-
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
0.702
3Gain-
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5M1-
-
-
-
1Loss-
OR5M10-
-
-
-
1Loss-
OR5M11-
-
-
-
1Loss-
OR5M3-
-
-
-
1Loss-
OR5M8p.E21K
Missense
SNP
0.294
1Loss-
OR5M9-
-
-
-
1Loss-
OR5R1-
-
-
-
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5V1-
-
-
-
3Gain-
OR5W2-
-
-
-
1Loss-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3p.R231K
Missense
SNP
0.584
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6M1-
-
-
-
1Loss-
OR6Q1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR7D4p.P181L
Missense
SNP
0.512
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
0.297
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K1-
-
-
-
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8S1-
-
-
-
1Loss-
OR8U1-
-
-
-
1Loss-
OR9G1-
-
-
-
1Loss-
OR9G4-
-
-
-
1Loss-
OR9I1-
-
-
-
1Loss-
OR9K2p.P291S
Missense
SNP
0.316
1Loss-
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORAI2p.S153F
Missense
SNP
0.522
2--
ORAI3-
-
-
-
1Loss-
ORC1-
-
-
-
5Amp-
ORC6-
-
-
-
1Loss-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBP-
-
-
-
1Loss-
OSBPL11-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSBPL9-
-
-
-
5Amp-
OSCP1-
-
-
-
5Amp-
OSGIN1-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOA-
-
-
-
1Loss-
OTOL1-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTUB1-
-
-
-
1Loss-
OTUD3-
-
-
-
5Amp-
OVCA2-
-
-
-
3Gain-
OVGP1-
-
-
-
5Amp-
OVOL1-
-
-
-
1Loss-
OXCT2-
-
-
-
5Amp-
OXGR1-
-
-
-
1Loss-
OXLD1-
-
-
-
1Loss-
P2RX1-
-
-
-
3Gain-
P2RX3-
-
-
-
1Loss-
P2RX5-
-
-
-
3Gain-
P2RX5-TAX1BP3-
-
-
-
3Gain-
P2RX6-
-
-
-
1Loss-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P3H1-
-
-
-
5Amp-
P3H2-
-
-
-
3Gain-
P4HA3-
-
-
-
1Loss-
P4HB-
-
-
-
1Loss-
PA2G4-
-
-
-
1Loss-
PAAF1-
-
-
-
1Loss-
PABPC3-
-
-
-
1Loss-
PABPC4-
-
-
-
5Amp-
PABPN1L-
-
-
-
1Loss-
PACS1-
-
-
-
1Loss-
PADI1-
-
-
-
5Amp-
PADI2-
-
-
-
5Amp-
PADI3-
-
-
-
5Amp-
PADI4-
-
-
-
5Amp-
PADI6p.P106L
Missense
SNP
0.863
5Amp-
PAFAH1B1-
-
-
-
3Gain-
PAFAH1B2-
-
-
-
1Loss-
PAFAH2-
-
-
-
5Amp-
PAGR1-
-
-
-
1Loss-
PAK1-
-
-
-
1Loss-
PAK1IP1-
-
-
-
3Gain-
PAK2-
-
-
-
3Gain-
PALB2-
-
-
-
1Loss-
PALMD-
-
-
-
5Amp-
PAM16-
-
-
-
1Loss-
PAN2-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PANK4-
-
-
-
5Amp-
PANX3-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR4-
-
-
-
1Loss-
PAQR7-
-
-
-
5Amp-
PAQR8-
-
-
-
3Gain-
PAQR9-
-
-
-
3Gain-
PARD3Bp.R865K
Missense
SNP
0.515
2--
PARD6A-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
5Amp-
PARL-
-
-
-
3Gain-
PARM1-
-
-
-
1Loss-
PARN-
-
-
-
8Amp-
PARP10-
-
-
-
1Loss-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP4-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PARP9-
-
-
-
3Gain-
PARS2-
-
-
-
5Amp-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATJ-
-
-
-
5Amp-
PATL1-
-
-
-
1Loss-
PAX7-
-
-
-
5Amp-
PC-
-
-
-
1Loss-
PCBP2-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH17-
-
-
-
1Loss-
PCDH19p.R376C
Missense
SNP
0.972
NDND-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA1p.S680L
Missense
SNP
0.375
2--
PCDHA8p.R428Q
Missense
SNP
0.283
2--
PCDHB2p.G72E
Missense
SNP
0.706
2--
PCDHB4p.G118E
Missense
SNP
0.330
2--
PCDHGA3p.R65C
Missense
SNP
0.579
2--
PCDHGA7p.S302L
Missense
SNP
0.728
2--
PCGF2p.E204K
Missense
SNP
1.000
2--
PCGF3-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCLOp.P4663L
p.E4551K
p.E4454K
p.H4147Y
p.S2384F
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.507
0.419
0.464
0.519
0.519
2--
PCNP-
-
-
-
3Gain-
PCNX3-
-
-
-
1Loss-
PCOLCE2p.L73F
Missense
SNP
0.286
3Gain-
PCSK7-
-
-
-
1Loss-
PCSK9-
-
-
-
5Amp-
PCTP-
-
-
-
3Gain-
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
3GainPCYT1A--ENO1
PCYT2-
-
-
-
1Loss-
PDCD10-
-
-
-
3Gain-
PDCD6-
-
-
-
1Loss-
PDE1B-
-
-
-
1Loss-
PDE2A-
-
-
-
1Loss-
PDE4B-
-
-
-
5Amp-
PDE4DIPp.R1355Q
Missense
SNP
0.182
2--
PDE6Ap.G345R
Missense
SNP
0.364
1Loss-
PDE6Bp.D65N
Missense
SNP
0.323
1Loss-
PDE6G-
-
-
-
1Loss-
PDE8A-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDIA2-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDIK1L-
-
-
-
5Amp-
PDILT-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDPN-
-
-
-
5Amp-
PDPR-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDXDC1-
-
-
-
8Amp-
PDZD3-
-
-
-
1Loss-
PDZD9-
-
-
-
1Loss-
PDZK1IP1-
-
-
-
5Amp-
PEAK1-
-
-
-
1Loss-
PECAM1-
-
-
-
3Gain-
PEF1-
-
-
-
5Amp-
PELI2p.H388Y
Missense
SNP
0.426
2--
PELI3-
-
-
-
1Loss-
PELP1-
-
-
-
3Gain-
PEMT-
-
-
-
3Gain-
PER1-
-
-
-
3Gain-
PER3-
-
-
-
5Amp-
PERM1-
-
-
-
5Amp-
PEX10-
-
-
-
5Amp-
PEX14-
-
-
-
5Amp-
PEX26-
-
-
-
1Loss-
PEX5L-
-
-
-
3Gain-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
3Gain-
PFDN5-
-
-
-
1Loss-
PFKM-
-
-
-
1Loss-
PFN1-
-
-
-
3Gain-
PFN2-
-
-
-
3Gain-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGBD1-
-
-
-
3Gain-
PGD-
-
-
-
5Amp-
PGK2-
-
-
-
3Gain-
PGM1-
-
-
-
5Amp-
PGM2L1-
-
-
-
1Loss-
PGP-
-
-
-
1Loss-
PGS1-
-
-
-
1Loss-
PHACTR1-
-
-
-
3Gain-
PHACTR4-
-
-
-
5Amp-
PHC2-
-
-
-
5Amp-
PHC3-
-
-
-
3Gain-
PHEXp.E726K
Missense
SNP
1.000
NDND-
PHF11-
-
-
-
1Loss-
PHF13-
-
-
-
5Amp-
PHF23-
-
-
-
3Gain-
PHGDH-
-
-
-
5Amp-
PHKBp.R890C
Missense
SNP
0.327
1Loss-
PHKG2-
-
-
-
1Loss-
PHLDA1-
-
-
-
3Gain-
PHLDA3-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHLDB2-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHOX2A-
-
-
-
1Loss-
PHRF1p.P938S
Missense
SNP
0.500
2--
PHTF1-
-
-
-
5Amp-
PI4KA-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIEZO2-
-
-
-
3Gain-
PIF1p.A600V
Missense
SNP
0.315
2--
PIFO-
-
-
-
5Amp-
PIGG-
-
-
-
1Loss-
PIGK-
-
-
-
5Amp-
PIGL-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGQ-
-
-
-
1Loss-
PIGR-
-
-
-
1Loss-
PIGV-
-
-
-
5Amp-
PIGX-
-
-
-
3Gain-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
3Gain-
PIK3C2B-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3CD-
-
-
-
5Amp-
PIK3R3-
-
-
-
5Amp-
PIK3R4-
-
-
-
3Gain-
PIMREG-
-
-
-
3Gain-
PINK1-
-
-
-
5Amp-
PIP4K2C-
-
-
-
1Loss-
PIRT-
-
-
-
3Gain-
PITHD1-
-
-
-
5Amp-
PITPNA-
-
-
-
3Gain-
PITPNC1-
-
-
-
3Gain-
PITPNM1-
-
-
-
1Loss-
PITPNM3-
-
-
-
3Gain-
PKD1-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKHD1p.G470D
Missense
SNP
0.557
3Gain-
PKHD1L1p.P2783S
Missense
SNP
0.562
2--
PKM-
-
-
-
1Loss-
PKMYT1-
-
-
-
1Loss-
PKN2-
-
-
-
5Amp-
PKNOX2-
-
-
-
1Loss-
PKP1-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2G10-
-
-
-
8Amp-
PLA2G15-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G2A-
-
-
-
5Amp-
PLA2G2C-
-
-
-
5Amp-
PLA2G2D-
-
-
-
5Amp-
PLA2G2E-
-
-
-
5Amp-
PLA2G2F-
-
-
-
5Amp-
PLA2G5-
-
-
-
5Amp-
PLA2G7-
-
-
-
3Gain-
PLAC8-
-
-
-
1Loss-
PLCB1p.E373K
Missense
SNP
0.500
2--
PLCB3-
-
-
-
1Loss-
PLCB4p.G71E
Missense
SNP
0.554
2--
PLCG2-
-
-
-
1Loss-
PLCH1p.R808W
Missense
SNP
0.174
3Gain-
PLCH2-
-
-
-
5Amp-
PLCL2p.A292V
Missense
SNP
0.500
2--
PLCXD2-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLD2-
-
-
-
3Gain-
PLD6-
-
-
-
3Gain-
PLEC-
-
-
-
1Loss-
PLEKHA6-
-
-
-
1Loss-
PLEKHB1-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
1Loss-
PLEKHG5p.R718Q
Missense
SNP
0.114
5Amp-
PLEKHG7-
-
-
-
3Gain-
PLEKHM2-
-
-
-
5Amp-
PLEKHN1-
-
-
-
5Amp-
PLEKHS1p.H363Y
Missense
SNP
0.587
2--
PLK1-
-
-
-
1Loss-
PLK3-
-
-
-
5Amp-
PLLP-
-
-
-
1Loss-
PLOD1-
-
-
-
5Amp-
PLOD2-
-
-
-
3Gain-
PLPP3-
-
-
-
5Amp-
PLPPR4-
-
-
-
5Amp-
PLPPR5-
-
-
-
5Amp-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR3-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXNA1-
-
-
-
3Gain-
PLXNA4p.F1326L
Missense
SNP
0.473
2--
PLXND1-
-
-
-
3Gain-
PM20D1-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMEL-
-
-
-
1Loss-
PMFBP1-
-
-
-
1Loss-
PML-
-
-
-
1Loss-
PMP22-
-
-
-
3Gain-
PNPLA1p.S422L
Missense
SNP
0.481
2--
PNRC2-
-
-
-
5Amp-
PODN-
-
-
-
5Amp-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLA2-
-
-
-
1Loss-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLG2-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLN-
-
-
-
1Loss-
POLQ-
-
-
-
3Gain-
POLR1D-
-
-
-
1Loss-
POLR2A-
-
-
-
3Gain-
POLR2C-
-
-
-
1Loss-
POLR2G-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR3E-
-
-
-
1Loss-
POLR3K-
-
-
-
1Loss-
POM121L2-
-
-
-
3Gain-
POMGNT1-
-
-
-
5Amp-
POMP-
-
-
-
1Loss-
POPDC2-
-
-
-
3Gain-
POSTN-
-
-
-
1Loss-
POTEC-
-
-
-
3Gain-
POTEEp.R36K
Missense
SNP
0.512
2--
POTEHp.S52F
Missense
SNP
0.492
2--
POU2F3-
-
-
-
1Loss-
POU3F1-
-
-
-
5Amp-
POU4F1-
-
-
-
1Loss-
POU6F1-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPCS-
-
-
-
5Amp-
PPEF2-
-
-
-
1Loss-
PPFIA1p.R306Q
Missense
SNP
0.246
1Loss-
PPFIA2-
-
-
-
1Loss-
PPFIA4-
-
-
-
1Loss-
PPIAL4A-
-
-
-
3Gain-
PPIE-
-
-
-
5Amp-
PPIH-
-
-
-
5Amp-
PPIL2-
-
-
-
1Loss-
PPL-
-
-
-
1Loss-
PPM1E-
-
-
-
3Gain-
PPM1F-
-
-
-
1Loss-
PPM1Jp.G164R
Missense
SNP
0.309
5Amp-
PPM1K-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPME1-
-
-
-
1Loss-
PPP1CA-
-
-
-
1Loss-
PPP1R12B-
-
-
-
1Loss-
PPP1R14B-
-
-
-
1Loss-
PPP1R15B-
-
-
-
1Loss-
PPP1R16A-
-
-
-
1Loss-
PPP1R1A-
-
-
-
1Loss-
PPP1R2-
-
-
-
3Gain-
PPP1R27-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R32-
-
-
-
1Loss-
PPP1R3Ap.G464E
Missense
SNP
0.450
2--
PPP1R3G-
-
-
-
3Gain-
PPP1R8-
-
-
-
5Amp-
PPP2R2C-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP2R5B-
-
-
-
1Loss-
PPP3CA-
-
-
-
1Loss-
PPP4C-
-
-
-
1Loss-
PPP4R1-
-
-
-
3Gain-
PPP6R2-
-
-
-
1Loss-
PPP6R3-
-
-
-
1Loss-
PPT1-
-
-
-
5Amp-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
5Amp-
PQLC2L-
-
-
-
3Gain-
PRAMEF1-
-
-
-
5Amp-
PRAMEF11-
-
-
-
5Amp-
PRAMEF12-
-
-
-
5Amp-
PRAMEF14-
-
-
-
5Amp-
PRAMEF15-
-
-
-
5Amp-
PRAMEF18-
-
-
-
5Amp-
PRAMEF19-
-
-
-
5Amp-
PRAMEF2-
-
-
-
5Amp-
PRAMEF20-
-
-
-
5Amp-
PRAMEF25-
-
-
-
5Amp-
PRAMEF26-
-
-
-
5Amp-
PRAMEF27-
-
-
-
5Amp-
PRAMEF4-
-
-
-
5Amp-
PRAMEF5-
-
-
-
5Amp-
PRAMEF6-
-
-
-
5Amp-
PRAMEF9-
-
-
-
5Amp-
PRAP1-
-
-
-
1Loss-
PRCD-
-
-
-
3Gain-
PRDM10-
-
-
-
1Loss-
PRDM16-
-
-
-
5Amp-
PRDM2-
-
-
-
5Amp-
PRDM5p.E229K
Missense
SNP
0.300
2--
PRDM7-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDX1-
-
-
-
5Amp-
PRDX5-
-
-
-
1Loss-
PRELID3A-
-
-
-
3Gain-
PRELP-
-
-
-
1Loss-
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRIM1-
-
-
-
1Loss-
PRIM2-
-
-
-
3Gain-
PRKAA2-
-
-
-
5Amp-
PRKACB-
-
-
-
5Amp-
PRKAG1-
-
-
-
1Loss-
PRKAR1A-
-
-
-
3Gain-
PRKCA-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKCI-
-
-
-
3Gain-
PRKCZ-
-
-
-
5Amp-
PRKD2p.R147W
Missense
SNP
0.456
2--
PRKG2p.G90R
Missense
SNP
0.994
1Loss-
PRL-
-
-
-
3Gain-
PRLRp.P404S
Missense
SNP
0.720
2--
PRM1-
-
-
-
8Amp-
PRM2-
-
-
-
8Amp-
PRM3-
-
-
-
8Amp-
PRMT6-
-
-
-
5Amp-
PRMT7-
-
-
-
1Loss-
PRODH-
-
-
-
1Loss-
PROK1-
-
-
-
5Amp-
PROS1-
-
-
-
3Gain-
PROSER1-
-
-
-
1Loss-
PROX1p.L9F
Missense
SNP
0.394
2--
PROZ-
-
-
-
1Loss-
PRPF19-
-
-
-
1Loss-
PRPF38A-
-
-
-
5Amp-
PRPF38B-
-
-
-
5Amp-
PRPF40B-
-
-
-
1Loss-
PRPF4B-
-
-
-
3Gain-
PRPF8-
-
-
-
3Gain-
PRPH-
-
-
-
1Loss-
PRPSAP1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
3Gain-
PRR11p.P104S
Missense
SNP
0.439
3Gain-
PRR13-
-
-
-
1Loss-
PRR14-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR29-
-
-
-
3Gain-
PRR35-
-
-
-
1Loss-
PRRT2-
-
-
-
1Loss-
PRSS16-
-
-
-
3Gain-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS23p.G6E
Missense
SNP
0.585
2--
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS36-
-
-
-
1Loss-
PRSS41-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS8-
-
-
-
1Loss-
PRXL2B-
-
-
-
5Amp-
PSAPL1-
-
-
-
1Loss-
PSCA-
-
-
-
1Loss-
PSD2p.R50Q
Missense
SNP
0.281
2--
PSKH1-
-
-
-
1Loss-
PSMA4-
-
-
-
1Loss-
PSMA5-
-
-
-
5Amp-
PSMB10-
-
-
-
1Loss-
PSMB2-
-
-
-
5Amp-
PSMB6-
-
-
-
3Gain-
PSMC5-
-
-
-
3Gain-
PSMD12-
-
-
-
3Gain-
PSMD2-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSMG2-
-
-
-
3Gain-
PSMG4-
-
-
-
3Gain-
PSPC1-
-
-
-
1Loss-
PSRC1-
-
-
-
5Amp-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
5Amp-
PTBP2-
-
-
-
5Amp-
PTBP3p.S292F
Missense
SNP
0.493
2--
PTCH2-
-
-
-
5Amp-
PTCHD4-
-
-
-
3Gain-
PTGDR2-
-
-
-
1Loss-
PTGER3-
-
-
-
5Amp-
PTGES3-
-
-
-
1Loss-
PTGFR-
-
-
-
5Amp-
PTGFRN-
-
-
-
5Amp-
PTK2-
-
-
-
1Loss-
PTP4A2-
-
-
-
5Amp-
PTP4A3-
-
-
-
1Loss-
PTPN13-
-
-
-
1Loss-
PTPN2-
-
-
-
3Gain-
PTPN22-
-
-
-
5Amp-
PTPN7-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRBp.P2210S
Missense
SNP
0.802
3Gain-
PTPRCAP-
-
-
-
1Loss-
PTPRF-
-
-
-
5Amp-
PTPRM-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRU-
-
-
-
5Amp-
PTRH2-
-
-
-
3Gain-
PTX3-
-
-
-
3Gain-
PTX4-
-
-
-
1Loss-
PUF60-
-
-
-
1Loss-
PUM1-
-
-
-
5Amp-
PUS3-
-
-
-
1Loss-
PUSL1-
-
-
-
5Amp-
PVALEF-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDC1-
-
-
-
3Gain-
PXDNLp.D1280N
Missense
SNP
0.615
2--
PXYLP1-
-
-
-
3Gain-
PYCARD-
-
-
-
1Loss-
PYCR1-
-
-
-
1Loss-
PYCR3-
-
-
-
1Loss-
PYDC1-
-
-
-
1Loss-
PYDC2-
-
-
-
3Gain-
PYGM-
-
-
-
1Loss-
PYM1-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
QARSp.R154W
Missense
SNP
0.575
2--
QPRT-
-
-
-
1Loss-
QRICH2-
-
-
-
3Gain-
QSER1p.P1470S
Missense
SNP
0.460
2--
QTRT2-
-
-
-
3Gain-
R3HDM2-
-
-
-
1Loss-
RAB11FIP3-
-
-
-
1Loss-
RAB12-
-
-
-
3Gain-
RAB1B-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB23-
-
-
-
3Gain-
RAB26-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB29-
-
-
-
1Loss-
RAB31-
-
-
-
3Gain-
RAB37-
-
-
-
3Gain-
RAB3B-
-
-
-
5Amp-
RAB3IL1-
-
-
-
1Loss-
RAB3IP-
-
-
-
3Gain-
RAB40B-
-
-
-
1Loss-
RAB40C-
-
-
-
1Loss-
RAB42-
-
-
-
5Amp-
RAB43-
-
-
-
3Gain-
RAB5B-
-
-
-
1Loss-
RAB6A-
-
-
-
1Loss-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RABEP1-
-
-
-
3Gain-
RABEP2-
-
-
-
1Loss-
RABGGTB-
-
-
-
5Amp-
RABIF-
-
-
-
1Loss-
RABL2B-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RABL6p.T75K
Missense
SNP
0.972
2--
RAC3-
-
-
-
1Loss-
RACGAP1-
-
-
-
1Loss-
RAD51C-
-
-
-
3Gain-
RAD54Lp.P50L
Missense
SNP
0.899
5Amp-
RAD9A-
-
-
-
1Loss-
RAI1-
-
-
-
3Gain-
RALBP1-
-
-
-
3Gain-
RAMAC-
-
-
-
1Loss-
RANBP1-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANBP9-
-
-
-
3Gain-
RANGRF-
-
-
-
3Gain-
RAP1A-
-
-
-
5Amp-
RAP1GAP-
-
-
-
5Amp-
RAP1GAP2-
-
-
-
3Gain-
RAP1GDS1-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF3-
-
-
-
1Loss-
RARG-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RARRES3-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA3-
-
-
-
1Loss-
RASD1-
-
-
-
3Gain-
RASGEF1B-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRP2-
-
-
-
1Loss-
RASL11A-
-
-
-
1Loss-
RASSF5-
-
-
-
1Loss-
RASSF6-
-
-
-
1Loss-
RAVER2-
-
-
-
5Amp-
RAX-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBBP4-
-
-
-
5Amp-
RBBP5-
-
-
-
1Loss-
RBBP6-
-
-
-
1Loss-
RBFA-
-
-
-
1Loss-
RBFOX1-
-
-
-
1Loss-
RBFOX3-
-
-
-
1Loss-
RBL2-
-
-
-
1Loss-
RBM14-
-
-
-
1Loss-
RBM14-RBM4-
-
-
-
1Loss-
RBM15-
-
-
-
5Amp-
RBM22-
-
-
-
1Loss-
RBM24-
-
-
-
3Gain-
RBM26-
-
-
-
1Loss-
RBM4-
-
-
-
1Loss-
RBM4B-
-
-
-
1Loss-
RBMS2-
-
-
-
1Loss-
RBMXL1-
-
-
-
5Amp-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBP7-
-
-
-
5Amp-
RCAN2-
-
-
-
3Gain-
RCAN3-
-
-
-
5Amp-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1-
-
-
-
5Amp-
RCC2-
-
-
-
5Amp-
RCE1-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCOR2-
-
-
-
1Loss-
RCVRN-
-
-
-
3Gain-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
REC114-
-
-
-
1Loss-
RECQL4-
-
-
-
1Loss-
RECQL5-
-
-
-
3Gain-
REG4-
-
-
-
5Amp-
RELA-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
RELT-
-
-
-
1Loss-
REN-
-
-
-
1Loss-
RER1-
-
-
-
5Amp-
RERE-
-
-
-
5Amp-
RETNLB-
-
-
-
3Gain-
REXO5-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFLNB-
-
-
-
3Gain-
RFNG-
-
-
-
1Loss-
RFTN1p.E93K
Missense
SNP
0.486
2--
RFWD3-
-
-
-
1Loss-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGS11-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS7p.R44C
Missense
SNP
0.666
2--
RGS9-
-
-
-
3Gain-
RHAG-
-
-
-
3Gain-
RHBDF1-
-
-
-
1Loss-
RHBDF2-
-
-
-
3Gain-
RHBDL1-
-
-
-
1Loss-
RHBDL2-
-
-
-
5Amp-
RHCE-
-
-
-
5Amp-
RHD-
-
-
-
5Amp-
RHEBL1-
-
-
-
1Loss-
RHEX-
-
-
-
1Loss-
RHO-
-
-
-
3Gain-
RHOBTB1p.D429N
Missense
SNP
0.314
2--
RHOC-
-
-
-
5Amp-
RHOD-
-
-
-
1Loss-
RHOT2-
-
-
-
1Loss-
RHPN1-
-
-
-
1Loss-
RILP-
-
-
-
3Gain-
RIMKLA-
-
-
-
5Amp-
RIMS3-
-
-
-
5Amp-
RIN1-
-
-
-
1Loss-
RIOK1-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIPK1-
-
-
-
3Gain-
RIPOR1-
-
-
-
1Loss-
RIPOR2-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RLF-
-
-
-
5Amp-
RMDN2p.R130C
Missense
SNP
0.516
2--
RMI2-
-
-
-
8Amp-
RN7SL1-
-
-
-
NDNDFBN1--RN7SL1
RNASEH2B-
-
-
-
1Loss-
RNASEH2C-
-
-
-
1Loss-
RNASEK-
-
-
-
3Gain-
RNASEK-C17orf49-
-
-
-
3Gain-
RND1-
-
-
-
1Loss-
RNF11-
-
-
-
5Amp-
RNF112-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF121-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF144B-
-
-
-
3Gain-
RNF151-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF157-
-
-
-
3Gain-
RNF165p.R254W
Missense
SNP
0.441
1Loss-
RNF166-
-
-
-
1Loss-
RNF167-
-
-
-
3Gain-
RNF168-
-
-
-
3Gain-
RNF169-
-
-
-
1Loss-
RNF17-
-
-
-
1Loss-
RNF182-
-
-
-
3Gain-
RNF186-
-
-
-
5Amp-
RNF19B-
-
-
-
5Amp-
RNF207-
-
-
-
5Amp-
RNF212-
-
-
-
1Loss-
RNF213-
-
-
-
1Loss-
RNF214-
-
-
-
1Loss-
RNF217p.P480S
Missense
SNP
0.335
2--
RNF219-
-
-
-
1Loss-
RNF220-
-
-
-
5Amp-
RNF222-
-
-
-
3Gain-
RNF223-
-
-
-
5Amp-
RNF227-
-
-
-
3Gain-
RNF26-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF40-
-
-
-
1Loss-
RNF41-
-
-
-
1Loss-
RNF43-
-
-
-
3Gain-
RNF6-
-
-
-
1Loss-
RNF7-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNMT-
-
-
-
3Gain-
RNPC3-
-
-
-
5Amp-
RNPEP-
-
-
-
1Loss-
RNPS1-
-
-
-
1Loss-
RNU6-431P-
-
-
-
NDNDRNU6-431P--AC007952.4
ROBO3-
-
-
-
1Loss-
ROBO4p.G686E
Missense
SNP
0.429
1Loss-
ROGDI-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROR1-
-
-
-
5Amp-
RP11-407N17.3p.S834W
Missense
SNP
0.434
NDND-
RPA1-
-
-
-
3Gain-
RPA2-
-
-
-
5Amp-
RPAIN-
-
-
-
3Gain-
RPAP2-
-
-
-
5Amp-
RPE65-
-
-
-
5Amp-
RPF1-
-
-
-
5Amp-
RPGRIP1L-
-
-
-
1Loss-
RPH3AL-
-
-
-
3Gain-
RPL11-
-
-
-
5Amp-
RPL13-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL22-
-
-
-
5Amp-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL26-
-
-
-
3Gain-
RPL35A-
-
-
-
3Gain-
RPL38-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL3L-
-
-
-
1Loss-
RPL41-
-
-
-
1Loss-
RPL5-
-
-
-
5Amp-
RPL8-
-
-
-
1Loss-
RPN1-
-
-
-
3Gain-
RPP25-
-
-
-
1Loss-
RPP40-
-
-
-
3Gain-
RPRD1A-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS15A-
-
-
-
6Amp-
RPS17-
-
-
-
1Loss-
RPS2-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS26-
-
-
-
1Loss-
RPS3-
-
-
-
1Loss-
RPS6KA1-
-
-
-
5Amp-
RPS6KA4-
-
-
-
1Loss-
RPS6KB1-
-
-
-
3Gain-
RPS6KB2-
-
-
-
1Loss-
RPS8-
-
-
-
5Amp-
RPTNp.S413F
Missense
SNP
0.779
3Gain-
RPTOR-
-
-
-
1Loss-
RPUSD1-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAGC-
-
-
-
5Amp-
RREB1-
-
-
-
3Gain-
RRN3-
-
-
-
8Amp-
RSBN1-
-
-
-
5Amp-
RSC1A1-
-
-
-
5Amp-
RSF1-
-
-
-
1Loss-
RSL1D1-
-
-
-
8Amp-
RSPO1-
-
-
-
5Amp-
RSPRY1-
-
-
-
1Loss-
RSRC1-
-
-
-
3Gain-
RSRP1-
-
-
-
5Amp-
RTCA-
-
-
-
5Amp-
RTL10-
-
-
-
1Loss-
RTN3-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTN4RL1-
-
-
-
3Gain-
RTN4RL2-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUNX2-
-
-
-
3Gain-
RUNX3-
-
-
-
5Amp-
RUVBL1-
-
-
-
3Gain-
RWDD3-
-
-
-
5Amp-
RXFP2p.E77K
Missense
SNP
0.982
1Loss-
RYK-
-
-
-
3Gain-
RYR2p.G41E
p.S3303F
Missense
Missense
SNP
SNP
0.262
0.686
2--
RYR3p.T442I
Missense
SNP
0.344
2--
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A7L2p.G110E
Missense
SNP
0.754
2--
S100P-
-
-
-
1Loss-
S100PBP-
-
-
-
5Amp-
S1PR1-
-
-
-
5Amp-
SAC3D1-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD11-
-
-
-
5Amp-
SAMD13-
-
-
-
5Amp-
SAMD7-
-
-
-
3Gain-
SAP18-
-
-
-
1Loss-
SAP30BP-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SARS-
-
-
-
5Amp-
SART1-
-
-
-
1Loss-
SASS6-
-
-
-
5Amp-
SAT2-
-
-
-
3Gain-
SAXO2-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBK1-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAPER-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
3Gain-
SCARF2-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCGB1A1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
3Gain-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGNp.D173N
Missense
SNP
0.346
3Gain-
SCHIP1-
-
-
-
3Gain-
SCIMP-
-
-
-
3Gain-
SCMH1-
-
-
-
5Amp-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4A-
-
-
-
3Gain-
SCN4B-
-
-
-
1Loss-
SCN8Ap.E946K
Missense
SNP
0.297
1Loss-
SCN9Ap.R1608Q
Missense
SNP
0.473
2--
SCNN1B-
-
-
-
1Loss-
SCNN1D-
-
-
-
5Amp-
SCNN1G-
-
-
-
1Loss-
SCO1-
-
-
-
3Gain-
SCO2-
-
-
-
1Loss-
SCP2-
-
-
-
5Amp-
SCPEP1-
-
-
-
3Gain-
SCRIB-
-
-
-
1Loss-
SCRT1-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDC3-
-
-
-
5Amp-
SDF2L1-
-
-
-
1Loss-
SDF4-
-
-
-
5Amp-
SDHA-
-
-
-
1Loss-
SDHAF2-
-
-
-
1Loss-
SDHB-
-
-
-
5Amp-
SDK2-
-
-
-
3Gain-
SDR42E1-
-
-
-
1Loss-
SDR42E2-
-
-
-
1Loss-
SDR9C7-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L1-
-
-
-
3Gain-
SEC14L5-
-
-
-
1Loss-
SEC22A-
-
-
-
3Gain-
SEC22B-
-
-
-
5Amp-
SEC31A-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SECTM1-
-
-
-
1Loss-
SEH1L-
-
-
-
3Gain-
SELENOF-
-
-
-
5Amp-
SELENOH-
-
-
-
1Loss-
SELENON-
-
-
-
5Amp-
SELENOT-
-
-
-
3Gain-
SEMA5B-
-
-
-
3Gain-
SEMA7A-
-
-
-
1Loss-
SENP1-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP3-
-
-
-
3Gain-
SENP3-EIF4A1-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP7-
-
-
-
3Gain-
SENP8-
-
-
-
1Loss-
SEPHS2-
-
-
-
1Loss-
SEPT1-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT9-
-
-
-
3Gain-
SERBP1-
-
-
-
5Amp-
SERINC2-
-
-
-
5Amp-
SERP1-
-
-
-
3Gain-
SERP2-
-
-
-
1Loss-
SERPINA11p.S379Y
Missense
SNP
0.396
2--
SERPINB1-
-
-
-
3Gain-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB6-
-
-
-
3Gain-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINB9-
-
-
-
3Gain-
SERPIND1-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
3Gain-
SERPINF2-
-
-
-
3Gain-
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTM1-
-
-
-
1Loss-
SESN2-
-
-
-
5Amp-
SETBP1-
-
-
-
1Loss-
SETD1A-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SETDB2-
-
-
-
1Loss-
SEZ6L2-
-
-
-
1Loss-
SF1-
-
-
-
1Loss-
SF3A3-
-
-
-
5Amp-
SF3B2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SFN-
-
-
-
5Amp-
SFPQ-
-
-
-
5Amp-
SGCD-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGF29-
-
-
-
1Loss-
SGIP1-
-
-
-
5Amp-
SGK2p.M61I
Missense
SNP
0.463
2--
SGSH-
-
-
-
1Loss-
SGSM2-
-
-
-
3Gain-
SH2B1-
-
-
-
1Loss-
SH2D5-
-
-
-
5Amp-
SH2D7-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
5Amp-
SH3BP2-
-
-
-
1Loss-
SH3D21-
-
-
-
5Amp-
SH3GL3-
-
-
-
1Loss-
SH3GLB1-
-
-
-
5Amp-
SH3TC1-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHANK2-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
1Loss-
SHBG-
-
-
-
3Gain-
SHCBP1-
-
-
-
1Loss-
SHISA2-
-
-
-
1Loss-
SHISA4-
-
-
-
1Loss-
SHISA6-
-
-
-
3Gain-
SHISA9-
-
-
-
8Amp-
SHISAL2A-
-
-
-
5Amp-
SHMT1-
-
-
-
3Gain-
SHMT2-
-
-
-
1Loss-
SHOX2p.R215*
Nonsense
SNP
0.197
3Gain-
SHPK-
-
-
-
3Gain-
SHROOM3-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAE-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIAH2-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
3Gain-
SIDT2-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIKE1-
-
-
-
5Amp-
SIN3A-
-
-
-
1Loss-
SIPA1-
-
-
-
1Loss-
SIRPGp.P11S
Missense
SNP
0.430
2--
SIRT5-
-
-
-
3Gain-
SIRT7-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKA2-
-
-
-
3Gain-
SKA3-
-
-
-
1Loss-
SKI-
-
-
-
5Amp-
SKIL-
-
-
-
3Gain-
SKOR2-
-
-
-
1Loss-
SLAIN1-
-
-
-
1Loss-
SLBP-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC10A7p.S261L
Missense
SNP
0.320
2--
SLC11A2-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A7-
-
-
-
1Loss-
SLC12A8-
-
-
-
3Gain-
SLC13A5-
-
-
-
3Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2-
-
-
-
3Gain-
SLC15A3-
-
-
-
1Loss-
SLC16A1-
-
-
-
5Amp-
SLC16A11-
-
-
-
3Gain-
SLC16A13-
-
-
-
3Gain-
SLC16A3-
-
-
-
1Loss-
SLC16A4-
-
-
-
5Amp-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC16A9p.G28E
Missense
SNP
0.578
2--
SLC17A1p.L347F
Missense
SNP
0.393
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC1A7-
-
-
-
5Amp-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A15-
-
-
-
5Amp-
SLC22A23-
-
-
-
3Gain-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9p.S167L
Missense
SNP
0.282
1Loss-
SLC24A2p.G437E
Missense
SNP
1.000
2--
SLC25A1-
-
-
-
1Loss-
SLC25A10-
-
-
-
1Loss-
SLC25A11-
-
-
-
3Gain-
SLC25A15-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A19-
-
-
-
3Gain-
SLC25A24-
-
-
-
5Amp-
SLC25A27-
-
-
-
3Gain-
SLC25A3-
-
-
-
3Gain-
SLC25A30-
-
-
-
1Loss-
SLC25A33-
-
-
-
5Amp-
SLC25A34-
-
-
-
5Amp-
SLC25A35-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC25A45-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A10-
-
-
-
1Loss-
SLC26A11-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A9-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC29A2-
-
-
-
1Loss-
SLC2A1-
-
-
-
5Amp-
SLC2A2-
-
-
-
3Gain-
SLC2A4-
-
-
-
3Gain-
SLC2A5-
-
-
-
5Amp-
SLC2A7-
-
-
-
5Amp-
SLC2A9-
-
-
-
1Loss-
SLC30A2-
-
-
-
5Amp-
SLC30A7-
-
-
-
5Amp-
SLC33A1-
-
-
-
3Gain-
SLC35A3-
-
-
-
5Amp-
SLC35A5-
-
-
-
3Gain-
SLC35B3-
-
-
-
3Gain-
SLC35C2p.R261G
Missense
SNP
0.454
2--
SLC35D1-
-
-
-
5Amp-
SLC35E2A-
-
-
-
5Amp-
SLC35E2B-
-
-
-
5Amp-
SLC35G2-
-
-
-
3Gain-
SLC35G4-
-
-
-
3Gain-
SLC35G6-
-
-
-
3Gain-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A10-
-
-
-
1Loss-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A11-
-
-
-
3Gain-
SLC39A4-
-
-
-
1Loss-
SLC39A5-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC41A1-
-
-
-
1Loss-
SLC41A3-
-
-
-
3Gain-
SLC43A1-
-
-
-
1Loss-
SLC43A2-
-
-
-
3Gain-
SLC43A3-
-
-
-
1Loss-
SLC44A3-
-
-
-
5Amp-
SLC44A5-
-
-
-
5Amp-
SLC45A1-
-
-
-
5Amp-
SLC45A3-
-
-
-
1Loss-
SLC45A4-
-
-
-
1Loss-
SLC46A3-
-
-
-
1Loss-
SLC47A1-
-
-
-
3Gain-
SLC47A2-
-
-
-
3Gain-
SLC48A1-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A8-
-
-
-
1Loss-
SLC51A-
-
-
-
3Gain-
SLC52A1-
-
-
-
3Gain-
SLC52A2-
-
-
-
1Loss-
SLC5A10-
-
-
-
3Gain-
SLC5A11-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC5A9-
-
-
-
5Amp-
SLC6A12p.W284*
Nonsense
SNP
0.564
2--
SLC6A15-
-
-
-
1Loss-
SLC6A17-
-
-
-
5Amp-
SLC6A18-
-
-
-
1Loss-
SLC6A19-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC6A3-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC6A9-
-
-
-
5Amp-
SLC7A1-
-
-
-
1Loss-
SLC7A14-
-
-
-
3Gain-
SLC7A4-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC9A1-
-
-
-
5Amp-
SLC9A3-
-
-
-
1Loss-
SLC9A3R1-
-
-
-
3Gain-
SLC9A3R2-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLC9A9-
-
-
-
3Gain-
SLC9C1-
-
-
-
3Gain-
SLCO1B1p.M48I
Missense
SNP
0.315
2--
SLCO1B3p.G315E
Missense
SNP
0.600
2--
SLCO2A1-
-
-
-
3Gain-
SLCO2B1-
-
-
-
1Loss-
SLFNL1-
-
-
-
5Amp-
SLITRK1-
-
-
-
1Loss-
SLITRK3-
-
-
-
3Gain-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLURP1-
-
-
-
1Loss-
SLURP2-
-
-
-
1Loss-
SLX1A-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAGP-
-
-
-
1Loss-
SMAP2-
-
-
-
5Amp-
SMARCAD1-
-
-
-
1Loss-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMARCD2-
-
-
-
3Gain-
SMC4-
-
-
-
3Gain-
SMCO1-
-
-
-
3Gain-
SMCR8-
-
-
-
3Gain-
SMG1-
-
-
-
6Amp-
SMG6-
-
-
-
3Gain-
SMG8-
-
-
-
3Gain-
SMIM1-
-
-
-
5Amp-
SMIM12-
-
-
-
5Amp-
SMIM13-
-
-
-
3Gain-
SMIM2-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM5-
-
-
-
3Gain-
SMIM6-
-
-
-
3Gain-
SMPD3-
-
-
-
1Loss-
SMPDL3B-
-
-
-
5Amp-
SMTNL1-
-
-
-
1Loss-
SMTNL2-
-
-
-
3Gain-
SMUG1-
-
-
-
1Loss-
SMURF2-
-
-
-
3Gain-
SMYD4-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP29-
-
-
-
1Loss-
SNCA-
-
-
-
1Loss-
SNIP1-
-
-
-
5Amp-
SNN-
-
-
-
8Amp-
SNRNP25-
-
-
-
1Loss-
SNRNP40-
-
-
-
5Amp-
SNRNP48-
-
-
-
3Gain-
SNRPE-
-
-
-
1Loss-
SNTB2-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNX15-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX29-
-
-
-
8Amp-
SNX32-
-
-
-
1Loss-
SNX33-
-
-
-
1Loss-
SNX4-
-
-
-
3Gain-
SNX7-
-
-
-
5Amp-
SOAT2-
-
-
-
1Loss-
SOCS1-
-
-
-
8Amp-
SOCS3-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SORT1-
-
-
-
5Amp-
SOWAHB-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX11p.K122N
Missense
SNP
0.553
2--
SOX13-
-
-
-
1Loss-
SOX14-
-
-
-
3Gain-
SOX15-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
3Gain-
SOX8-
-
-
-
1Loss-
SOX9-
-
-
-
3Gain-
SP1-
-
-
-
1Loss-
SP100p.L815*
Frame_Shift_Del
DEL
0.492
2--
SP7-
-
-
-
1Loss-
SPA17-
-
-
-
1Loss-
SPACA7-
-
-
-
1Loss-
SPAG16p.P488S
Missense
SNP
0.501
2--
SPAG17-
-
-
-
5Amp-
SPAG7-
-
-
-
3Gain-
SPAM1p.H399Y
Missense
SNP
0.485
2--
SPARC-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA1-
-
-
-
5Amp-
SPATA13-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPATA18p.I481N
Missense
SNP
0.535
2--
SPATA19-
-
-
-
1Loss-
SPATA21-
-
-
-
5Amp-
SPATA22-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA6-
-
-
-
5Amp-
SPATA8p.S32L
Missense
SNP
0.741
2--
SPATC1-
-
-
-
1Loss-
SPATS2-
-
-
-
1Loss-
SPCS2-
-
-
-
1Loss-
SPDYC-
-
-
-
1Loss-
SPDYE4-
-
-
-
3Gain-
SPECC1-
-
-
-
3Gain-
SPEM1-
-
-
-
3Gain-
SPEM2-
-
-
-
3Gain-
SPENp.P3253S
Missense
SNP
0.724
5Amp-
SPERT-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHK1-
-
-
-
3Gain-
SPICE1-
-
-
-
3Gain-
SPINDOC-
-
-
-
1Loss-
SPIRE1-
-
-
-
3Gain-
SPIRE2-
-
-
-
1Loss-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPNS2-
-
-
-
3Gain-
SPNS3-
-
-
-
3Gain-
SPOCD1-
-
-
-
5Amp-
SPON2-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRY2-
-
-
-
1Loss-
SPRYD3-
-
-
-
1Loss-
SPRYD4-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB1-
-
-
-
5Amp-
SPSB3-
-
-
-
1Loss-
SPSB4-
-
-
-
3Gain-
SPTA1p.E529K
Missense
SNP
0.582
2--
SPTBN2-
-
-
-
1Loss-
SPTSSB-
-
-
-
3Gain-
SRARP-
-
-
-
5Amp-
SRCAP-
-
-
-
1Loss-
SREBF1p.A249V
Missense
SNP
0.616
3Gain-
SRGAP2-
-
-
-
1Loss-
SRGAP2C-
-
-
-
3Gain-
SRL-
-
-
-
1Loss-
SRM-
-
-
-
5Amp-
SRP68-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRR-
-
-
-
3Gain-
SRRM1-
-
-
-
5Amp-
SRRM2-
-
-
-
1Loss-
SRRM3p.R250L
Missense
SNP
0.507
2--
SRSF1-
-
-
-
3Gain-
SRSF10-
-
-
-
5Amp-
SRSF11-
-
-
-
5Amp-
SRSF2-
-
-
-
3Gain-
SRSF4-
-
-
-
5Amp-
SSBP3-
-
-
-
5Amp-
SSH3p.E143K
Missense
SNP
0.394
1Loss-
SSPOp.R247G
Missense
SNP
0.541
2--
SSR1-
-
-
-
3Gain-
SSR3-
-
-
-
3Gain-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SST-
-
-
-
3Gain-
SSTR2-
-
-
-
3Gain-
SSTR5-
-
-
-
1Loss-
SSU72-
-
-
-
5Amp-
SSX2IP-
-
-
-
5Amp-
ST14-
-
-
-
1Loss-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST3GAL3-
-
-
-
5Amp-
ST3GAL4-
-
-
-
1Loss-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GAL2p.S152F
Missense
SNP
0.470
2--
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST6GALNAC3-
-
-
-
5Amp-
ST6GALNAC5-
-
-
-
5Amp-
ST7L-
-
-
-
5Amp-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4p.R87C
Missense
SNP
0.312
2--
ST8SIA5-
-
-
-
1Loss-
STAC3-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STARD10-
-
-
-
1Loss-
STARD13-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STAT2-
-
-
-
1Loss-
STAT6-
-
-
-
1Loss-
STBD1-
-
-
-
1Loss-
STEAP3p.P440L
Missense
SNP
0.503
2--
STIL-
-
-
-
5Amp-
STIP1-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK40-
-
-
-
5Amp-
STMN1-
-
-
-
5Amp-
STMND1-
-
-
-
3Gain-
STOML1-
-
-
-
1Loss-
STOML3-
-
-
-
1Loss-
STPG1-
-
-
-
5Amp-
STPG2-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRADA-
-
-
-
3Gain-
STRIP1-
-
-
-
5Amp-
STT3A-
-
-
-
1Loss-
STUB1-
-
-
-
1Loss-
STX12-
-
-
-
5Amp-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX1B-
-
-
-
1Loss-
STX3-
-
-
-
1Loss-
STX4-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STX8-
-
-
-
3Gain-
STXBP3-
-
-
-
5Amp-
STXBP4-
-
-
-
3Gain-
STXBP5L-
-
-
-
3Gain-
SUCLA2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUGT1-
-
-
-
1Loss-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SUMO2-
-
-
-
3Gain-
SUOX-
-
-
-
1Loss-
SUPT20H-
-
-
-
1Loss-
SUPT3H-
-
-
-
3Gain-
SUPT4H1-
-
-
-
3Gain-
SV2Cp.G449E
Missense
SNP
0.626
2--
SVBP-
-
-
-
5Amp-
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYCP1p.E775K
Missense
SNP
0.336
5Amp-
SYCP2L-
-
-
-
3Gain-
SYDE2p.N513K
Missense
SNP
0.091
5Amp-
SYF2-
-
-
-
5Amp-
SYNC-
-
-
-
5Amp-
SYNE2p.S6816F
Missense
SNP
0.395
2--
SYNGR2-
-
-
-
3Gain-
SYNGR3-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYPL2-
-
-
-
5Amp-
SYT12-
-
-
-
1Loss-
SYT17-
-
-
-
3Gain-
SYT2-
-
-
-
1Loss-
SYT3p.R558C
Missense
SNP
0.462
2--
SYT4-
-
-
-
1Loss-
SYT6-
-
-
-
5Amp-
SYT7-
-
-
-
1Loss-
SYTL1-
-
-
-
5Amp-
SYVN1-
-
-
-
1Loss-
SZRD1-
-
-
-
5Amp-
SZT2-
-
-
-
5Amp-
TAC3-
-
-
-
1Loss-
TACC3-
-
-
-
1Loss-
TACO1-
-
-
-
3Gain-
TACSTD2-
-
-
-
5Amp-
TADA2B-
-
-
-
1Loss-
TAF12-
-
-
-
5Amp-
TAF13-
-
-
-
5Amp-
TAF1C-
-
-
-
1Loss-
TAF1Lp.L41F
Missense
SNP
0.995
2--
TAF4p.L717F
Missense
SNP
0.282
2--
TAF6L-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAGLN3-
-
-
-
3Gain-
TAL1-
-
-
-
5Amp-
TANC2-
-
-
-
3Gain-
TANGO2-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAOK2-
-
-
-
1Loss-
TARBP2-
-
-
-
1Loss-
TARDBP-
-
-
-
5Amp-
TAS1R1-
-
-
-
5Amp-
TAS1R2-
-
-
-
5Amp-
TAS1R3-
-
-
-
5Amp-
TAS2R3p.A228V
Missense
SNP
0.528
2--
TAS2R38p.S329F
Missense
SNP
0.480
2--
TAT-
-
-
-
1Loss-
TAX1BP3-
-
-
-
3Gain-
TBC1D10B-
-
-
-
1Loss-
TBC1D10C-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D16-
-
-
-
1Loss-
TBC1D21-
-
-
-
1Loss-
TBC1D23-
-
-
-
3Gain-
TBC1D24-
-
-
-
1Loss-
TBC1D26-
-
-
-
3Gain-
TBC1D28-
-
-
-
3Gain-
TBC1D2B-
-
-
-
1Loss-
TBC1D4-
-
-
-
1Loss-
TBC1D7-
-
-
-
3Gain-
TBCCD1-
-
-
-
3Gain-
TBCD-
-
-
-
1Loss-
TBCEL-
-
-
-
1Loss-
TBCKp.S729L
Missense
SNP
0.310
2--
TBL1XR1-
-
-
-
3Gain-
TBL3-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX1-
-
-
-
1Loss-
TBX10-
-
-
-
1Loss-
TBX15-
-
-
-
5Amp-
TBX2-
-
-
-
3Gain-
TBX20p.H114Q
Missense
SNP
0.446
2--
TBX4-
-
-
-
3Gain-
TBX5p.G365S
Missense
SNP
0.285
2--
TBX6-
-
-
-
1Loss-
TCEA3-
-
-
-
5Amp-
TCEANC2-
-
-
-
5Amp-
TCERG1Lp.M371I
Missense
SNP
0.358
2--
TCF25-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1p.E428K
Missense
SNP
0.700
3Gain-
TCIRG1-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCTE1p.P46S
Missense
SNP
0.434
2--
TCTEX1D1-
-
-
-
5Amp-
TCTEX1D2-
-
-
-
3Gain-
TCTEX1D4-
-
-
-
5Amp-
TDP2-
-
-
-
3Gain-
TDRD3-
-
-
-
1Loss-
TDRD5p.E403K
Missense
SNP
0.616
2--
TDRD6-
-
-
-
3Gain-
TECTA-
-
-
-
1Loss-
TEDC2-
-
-
-
1Loss-
TEKT1-
-
-
-
3Gain-
TEKT2-
-
-
-
5Amp-
TEKT3-
-
-
-
3Gain-
TEKT5-
-
-
-
8Amp-
TELO2-
-
-
-
1Loss-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENM4-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TENT5B-
-
-
-
5Amp-
TENT5C-
-
-
-
5Amp-
TEPP-
-
-
-
1Loss-
TEPSIN-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TERT-
-
-
-
1Loss-
TESK2-
-
-
-
5Amp-
TESMIN-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TEX14-
-
-
-
3Gain-
TEX19-
-
-
-
1Loss-
TEX2-
-
-
-
3Gain-
TEX26-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX38-
-
-
-
5Amp-
TEX46-
-
-
-
5Amp-
TEX49-
-
-
-
1Loss-
TF-
-
-
-
3Gain-
TFAP2A-
-
-
-
3Gain-
TFAP2B-
-
-
-
3Gain-
TFAP2D-
-
-
-
3Gain-
TFAP2E-
-
-
-
5Amp-
TFAP4-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFCP2L1p.E286K
Missense
SNP
0.514
2--
TFDP1-
-
-
-
1Loss-
TFDP2-
-
-
-
3Gain-
TFF3p.P9L
Missense
SNP
0.468
2--
TFGp.L105F
Missense
SNP
0.332
3Gain-
TFRC-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFB1I1-
-
-
-
1Loss-
TGFBR3-
-
-
-
5Amp-
TGM5p.S123F
Missense
SNP
0.314
2--
THAP10-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP12-
-
-
-
1Loss-
THAP3-
-
-
-
5Amp-
THAP6-
-
-
-
1Loss-
THAP7-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THEM6-
-
-
-
1Loss-
THEMIS2-
-
-
-
5Amp-
THG1L-
-
-
-
1Loss-
THOC6-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRAP3-
-
-
-
5Amp-
THRSP-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THUMPD1-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAM2p.G142E
Missense
SNP
0.388
2--
TIE1p.D758N
Missense
SNP
0.332
5Amp-
TIGD2-
-
-
-
1Loss-
TIGD3-
-
-
-
1Loss-
TIGD5-
-
-
-
1Loss-
TIGD6-
-
-
-
1Loss-
TIGD7-
-
-
-
1Loss-
TIGIT-
-
-
-
3Gain-
TIMD4p.G221E
Missense
SNP
0.396
1Loss-
TIMELESS-
-
-
-
1Loss-
TIMM10-
-
-
-
1Loss-
TIMM17A-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
3Gain-
TIMMDC1-
-
-
-
3Gain-
TIMP2-
-
-
-
1Loss-
TINAG-
-
-
-
3Gain-
TINAGL1-
-
-
-
5Amp-
TIPARP-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TK1-
-
-
-
3Gain-
TK2-
-
-
-
1Loss-
TKFC-
-
-
-
1Loss-
TLCD2-
-
-
-
3Gain-
TLDC1-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLK2-
-
-
-
3Gain-
TLNRD1-
-
-
-
1Loss-
TM2D1-
-
-
-
5Amp-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM4SF5-
-
-
-
3Gain-
TM6SF1-
-
-
-
1Loss-
TM7SF2-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMBIM6-
-
-
-
1Loss-
TMC3-
-
-
-
1Loss-
TMC5p.P226S
Missense
SNP
0.584
1Loss-
TMC6-
-
-
-
3Gain-
TMC7-
-
-
-
6Amp-
TMC8-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMCC2-
-
-
-
1Loss-
TMCO2-
-
-
-
5Amp-
TMCO3-
-
-
-
1Loss-
TMCO4-
-
-
-
5Amp-
TMED3-
-
-
-
1Loss-
TMED5-
-
-
-
5Amp-
TMED6-
-
-
-
1Loss-
TMEM100-
-
-
-
3Gain-
TMEM102-
-
-
-
3Gain-
TMEM104-
-
-
-
3Gain-
TMEM105-
-
-
-
1Loss-
TMEM106C-
-
-
-
1Loss-
TMEM107-
-
-
-
3Gain-
TMEM108-
-
-
-
3Gain-
TMEM109-
-
-
-
1Loss-
TMEM11-
-
-
-
3Gain-
TMEM121B-
-
-
-
1Loss-
TMEM125-
-
-
-
5Amp-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM132A-
-
-
-
1Loss-
TMEM134-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM14A-
-
-
-
3Gain-
TMEM14B-
-
-
-
3Gain-
TMEM14C-
-
-
-
3Gain-
TMEM150C-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM159-
-
-
-
1Loss-
TMEM167B-
-
-
-
5Amp-
TMEM170A-
-
-
-
1Loss-
TMEM170B-
-
-
-
3Gain-
TMEM175-
-
-
-
1Loss-
TMEM179B-
-
-
-
1Loss-
TMEM183A-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM198p.E270K
Missense
SNP
0.429
2--
TMEM200B-
-
-
-
5Amp-
TMEM200C-
-
-
-
3Gain-
TMEM201-
-
-
-
5Amp-
TMEM202-
-
-
-
1Loss-
TMEM204-
-
-
-
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM212-
-
-
-
3Gain-
TMEM216-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM219-
-
-
-
1Loss-
TMEM220-
-
-
-
3Gain-
TMEM222-
-
-
-
5Amp-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM231-
-
-
-
1Loss-
TMEM234-
-
-
-
5Amp-
TMEM235-
-
-
-
3Gain-
TMEM240-
-
-
-
5Amp-
TMEM242p.S87F
Missense
SNP
0.330
2--
TMEM249-
-
-
-
1Loss-
TMEM25-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
3Gain-
TMEM256-PLSCR3-
-
-
-
3Gain-
TMEM258-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM269-
-
-
-
5Amp-
TMEM272-
-
-
-
1Loss-
TMEM35B-
-
-
-
5Amp-
TMEM39A-
-
-
-
3Gain-
TMEM39B-
-
-
-
5Amp-
TMEM41A-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM45B-
-
-
-
1Loss-
TMEM50A-
-
-
-
5Amp-
TMEM51-
-
-
-
5Amp-
TMEM52-
-
-
-
5Amp-
TMEM53-
-
-
-
5Amp-
TMEM54-
-
-
-
5Amp-
TMEM56-
-
-
-
5Amp-
TMEM56-RWDD3-
-
-
-
5Amp-
TMEM59-
-
-
-
5Amp-
TMEM61-
-
-
-
5Amp-
TMEM69-
-
-
-
5Amp-
TMEM81-
-
-
-
1Loss-
TMEM82-
-
-
-
5Amp-
TMEM88-
-
-
-
3Gain-
TMEM88B-
-
-
-
5Amp-
TMEM8A-
-
-
-
1Loss-
TMEM9-
-
-
-
1Loss-
TMEM94-
-
-
-
3Gain-
TMEM95-
-
-
-
3Gain-
TMIGD3-
-
-
-
5Amp-
TMPO-
-
-
-
3Gain-
TMPRSS12-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS7-
-
-
-
3Gain-
TMTC2-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
3Gain-
TNFRSF14-
-
-
-
5Amp-
TNFRSF17-
-
-
-
8Amp-
TNFRSF18-
-
-
-
5Amp-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
5Amp-
TNFRSF21-
-
-
-
3Gain-
TNFRSF25-
-
-
-
5Amp-
TNFRSF4-
-
-
-
5Amp-
TNFRSF8-
-
-
-
5Amp-
TNFRSF9-
-
-
-
5Amp-
TNFSF10-
-
-
-
3Gain-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
3Gain-
TNFSF12-TNFSF13-
-
-
-
3Gain-
TNFSF13-
-
-
-
3Gain-
TNFSF13B-
-
-
-
1Loss-
TNIK-
-
-
-
3Gain-
TNIP1-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNK1-
-
-
-
3Gain-
TNK2-
-
-
-
3Gain-
TNKS1BP1-
-
-
-
1Loss-
TNNI1-
-
-
-
1Loss-
TNNI3K-
-
-
-
5Amp-
TNNT2-
-
-
-
1Loss-
TNP2-
-
-
-
8Amp-
TNRC6A-
-
-
-
1Loss-
TNRC6C-
-
-
-
3Gain-
TNS2-
-
-
-
1Loss-
TOE1-
-
-
-
5Amp-
TOM1L1-
-
-
-
3Gain-
TOM1L2-
-
-
-
3Gain-
TOMM70-
-
-
-
3Gain-
TONSL-
-
-
-
1Loss-
TOP1MT-
-
-
-
1Loss-
TOP3A-
-
-
-
3Gain-
TOP3B-
-
-
-
1Loss-
TOPAZ1p.E1390K
p.S1535F
Missense
Missense
SNP
SNP
0.509
0.418
2--
TOPBP1-
-
-
-
3Gain-
TOR1AIP2p.S451L
Missense
SNP
0.722
2--
TOX3-
-
-
-
1Loss-
TP53p.R342*
p.P278F
Nonsense
Missense
SNP
MNP
0.688
0.358
3Gain-
TP53AIP1-
-
-
-
1Loss-
TP63-
-
-
-
3Gain-
TP73-
-
-
-
5Amp-
TPBGL-
-
-
-
1Loss-
TPCN2-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPMT-
-
-
-
3Gain-
TPOp.D238N
Missense
SNP
0.472
2--
TPP2p.P874L
Missense
SNP
0.973
1Loss-
TPPP-
-
-
-
1Loss-
TPPP3-
-
-
-
1Loss-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPRG1L-
-
-
-
5Amp-
TPSAB1-
-
-
-
1Loss-
TPSB2-
-
-
-
1Loss-
TPSD1-
-
-
-
1Loss-
TPSG1-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TRA2B-
-
-
-
3Gain-
TRABD2B-
-
-
-
5Amp-
TRADD-
-
-
-
1Loss-
TRAF7-
-
-
-
1Loss-
TRAM2-
-
-
-
3Gain-
TRAP1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
3Gain-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3-
-
-
-
5Amp-
TRAPPC4-
-
-
-
1Loss-
TRAPPC9-
-
-
-
1Loss-
TRARG1-
-
-
-
3Gain-
TRAT1-
-
-
-
3Gain-
TREH-
-
-
-
1Loss-
TRH-
-
-
-
3Gain-
TRIM10p.R42C
Missense
SNP
0.420
2--
TRIM13-
-
-
-
1Loss-
TRIM16-
-
-
-
3Gain-
TRIM16L-
-
-
-
3Gain-
TRIM17p.R376Q
Missense
SNP
0.653
2--
TRIM25-
-
-
-
3Gain-
TRIM27-
-
-
-
3Gain-
TRIM29-
-
-
-
1Loss-
TRIM3p.P104L
Missense
SNP
0.320
2--
TRIM33-
-
-
-
5Amp-
TRIM37-
-
-
-
3Gain-
TRIM38-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM45-
-
-
-
5Amp-
TRIM47-
-
-
-
3Gain-
TRIM48-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM59-
-
-
-
3Gain-
TRIM62-
-
-
-
5Amp-
TRIM63-
-
-
-
5Amp-
TRIM65-
-
-
-
3Gain-
TRIM72-
-
-
-
1Loss-
TRIOBPp.Q716E
Missense
SNP
0.621
2--
TRIP13-
-
-
-
1Loss-
TRIT1-
-
-
-
5Amp-
TRMT10A-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT112-
-
-
-
1Loss-
TRMT13-
-
-
-
5Amp-
TRMT2A-
-
-
-
1Loss-
TRMT44-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
5Amp-
TRNP1-
-
-
-
5Amp-
TROAP-
-
-
-
1Loss-
TRPC1-
-
-
-
3Gain-
TRPC4-
-
-
-
1Loss-
TRPT1-
-
-
-
1Loss-
TRPV1-
-
-
-
3Gain-
TRPV2-
-
-
-
3Gain-
TRPV3-
-
-
-
3Gain-
TSC2-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN54-
-
-
-
3Gain-
TSFM-
-
-
-
1Loss-
TSGA10IP-
-
-
-
1Loss-
TSHB-
-
-
-
5Amp-
TSHRp.S79F
Missense
SNP
0.517
2--
TSHZ1-
-
-
-
1Loss-
TSKU-
-
-
-
1Loss-
TSNARE1-
-
-
-
1Loss-
TSNAXIP1-
-
-
-
1Loss-
TSPAN1-
-
-
-
5Amp-
TSPAN10-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN2-
-
-
-
5Amp-
TSPAN3-
-
-
-
1Loss-
TSPAN31-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPEARp.L340F
Missense
SNP
0.466
2--
TSPOAP1-
-
-
-
3Gain-
TSR1-
-
-
-
3Gain-
TSR3-
-
-
-
1Loss-
TSSK2-
-
-
-
1Loss-
TSSK3-
-
-
-
5Amp-
TSTA3-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC19-
-
-
-
3Gain-
TTC22-
-
-
-
5Amp-
TTC34-
-
-
-
5Amp-
TTC36-
-
-
-
1Loss-
TTC39A-
-
-
-
5Amp-
TTC4-
-
-
-
5Amp-
TTC9C-
-
-
-
1Loss-
TTF2-
-
-
-
5Amp-
TTLL10-
-
-
-
5Amp-
TTLL7-
-
-
-
5Amp-
TTNp.E10346K
p.P2858S
p.S291F
Missense
Missense
Missense
SNP
SNP
SNP
0.472
0.503
0.518
2--
TTYH2-
-
-
-
3Gain-
TUBp.R52W
Missense
SNP
0.425
2--
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA3C-
-
-
-
1Loss-
TUBA8-
-
-
-
1Loss-
TUBB2A-
-
-
-
3Gain-
TUBB2B-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUBB6-
-
-
-
3Gain-
TUBD1-
-
-
-
3Gain-
TUBGCP2-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TUFM-
-
-
-
1Loss-
TUT1-
-
-
-
1Loss-
TUT4-
-
-
-
5Amp-
TVP23A-
-
-
-
8Amp-
TVP23B-
-
-
-
3Gain-
TVP23C-
-
-
-
3Gain-
TVP23C-CDRT4-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXLNA-
-
-
-
5Amp-
TXNDC11-
-
-
-
8Amp-
TXNDC12-
-
-
-
5Amp-
TXNDC17-
-
-
-
3Gain-
TXNDC2-
-
-
-
3Gain-
TXNDC5-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TXNRD3-
-
-
-
3Gain-
TYMP-
-
-
-
1Loss-
TYW3-
-
-
-
5Amp-
U2SURP-
-
-
-
3Gain-
UBA5-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBALD2-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
3Gain-
UBE2G1-
-
-
-
3Gain-
UBE2I-
-
-
-
1Loss-
UBE2J2-
-
-
-
5Amp-
UBE2L3-
-
-
-
1Loss-
UBE2L6-
-
-
-
1Loss-
UBE2O-
-
-
-
3Gain-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2T-
-
-
-
1Loss-
UBE2U-
-
-
-
5Amp-
UBE4A-
-
-
-
1Loss-
UBE4B-
-
-
-
5Amp-
UBFD1-
-
-
-
1Loss-
UBIAD1-
-
-
-
5Amp-
UBL3-
-
-
-
1Loss-
UBL4B-
-
-
-
5Amp-
UBL7-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBR4p.A1831V
Missense
SNP
0.845
5Amp-
UBXN1-
-
-
-
1Loss-
UBXN10-
-
-
-
5Amp-
UBXN11-
-
-
-
5Amp-
UBXN7-
-
-
-
3Gain-
UCHL3-
-
-
-
1Loss-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UGGT1p.I1175T
Missense
SNP
0.484
2--
UGGT2-
-
-
-
1Loss-
ULK2p.S780F
Missense
SNP
0.322
3Gain-
ULK3-
-
-
-
1Loss-
UMOD-
-
-
-
1Loss-
UMPS-
-
-
-
3Gain-
UNC13D-
-
-
-
3Gain-
UNC5C-
-
-
-
1Loss-
UNC93B1-
-
-
-
1Loss-
UNK-
-
-
-
3Gain-
UNKL-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UQCC3-
-
-
-
1Loss-
UQCRC2-
-
-
-
1Loss-
UQCRH-
-
-
-
5Amp-
UQCRHL-
-
-
-
5Amp-
URAD-
-
-
-
1Loss-
UROC1-
-
-
-
3Gain-
UROD-
-
-
-
5Amp-
USB1-
-
-
-
1Loss-
USF3-
-
-
-
3Gain-
USH1G-
-
-
-
3Gain-
USO1-
-
-
-
1Loss-
USP1-
-
-
-
5Amp-
USP10-
-
-
-
1Loss-
USP12-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP17L13-
-
-
-
1Loss-
USP17L15-
-
-
-
1Loss-
USP17L18-
-
-
-
1Loss-
USP17L24-
-
-
-
1Loss-
USP17L25-
-
-
-
1Loss-
USP17L26-
-
-
-
1Loss-
USP17L27-
-
-
-
1Loss-
USP17L29-
-
-
-
1Loss-
USP17L30-
-
-
-
1Loss-
USP17L5-
-
-
-
1Loss-
USP18-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP22-
-
-
-
3Gain-
USP24-
-
-
-
5Amp-
USP31-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP33-
-
-
-
5Amp-
USP35-
-
-
-
1Loss-
USP36-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP43-
-
-
-
3Gain-
USP48-
-
-
-
5Amp-
USP6-
-
-
-
3Gain-
USPL1-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP11-
-
-
-
5Amp-
UTP14C-
-
-
-
1Loss-
UTP23p.R230K
Missense
SNP
0.371
2--
UTP4-
-
-
-
1Loss-
UTS2-
-
-
-
5Amp-
UTS2B-
-
-
-
3Gain-
UTS2R-
-
-
-
1Loss-
UVRAG-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP2-
-
-
-
3Gain-
VAMP3-
-
-
-
5Amp-
VANGL1-
-
-
-
5Amp-
VANGL2-
-
-
-
2-VANGL2--CSRP1
VAPA-
-
-
-
3Gain-
VASN-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VAV3-
-
-
-
5Amp-
VCAM1-
-
-
-
5Amp-
VDR-
-
-
-
1Loss-
VEGFB-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VEZF1-
-
-
-
3Gain-
VKORC1-
-
-
-
1Loss-
VMO1-
-
-
-
3Gain-
VMP1-
-
-
-
3Gain-
VPREB1-
-
-
-
1Loss-
VPS11-
-
-
-
1Loss-
VPS13D-
-
-
-
5Amp-
VPS26B-
-
-
-
1Loss-
VPS28-
-
-
-
1Loss-
VPS35-
-
-
-
1Loss-
VPS35L-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS37C-
-
-
-
1Loss-
VPS4A-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS51-
-
-
-
1Loss-
VPS53-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM4p.E226K
Missense
SNP
0.364
2--
VTA1p.D31N
Missense
SNP
0.308
2--
VTCN1-
-
-
-
5Amp-
VWA1-
-
-
-
5Amp-
VWA3Ap.T919M
Missense
SNP
0.476
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B1-
-
-
-
5Amp-
VWA5B2-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
VWCE-
-
-
-
1Loss-
WARS2-
-
-
-
5Amp-
WASF2-
-
-
-
5Amp-
WASF3-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WBP4-
-
-
-
1Loss-
WBSCR17p.G358E
p.P372L
Missense
Missense
SNP
SNP
0.342
0.511
NDND-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR24-
-
-
-
1Loss-
WDR3-
-
-
-
5Amp-
WDR45B-
-
-
-
1Loss-
WDR47-
-
-
-
5Amp-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR59-
-
-
-
1Loss-
WDR5B-
-
-
-
3Gain-
WDR61-
-
-
-
1Loss-
WDR63-
-
-
-
5Amp-
WDR7-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR74-
-
-
-
1Loss-
WDR77-
-
-
-
5Amp-
WDR78-
-
-
-
5Amp-
WDR81-
-
-
-
3Gain-
WDR90-
-
-
-
1Loss-
WDR93p.E264K
Missense
SNP
0.814
2--
WDR97-
-
-
-
1Loss-
WDTC1-
-
-
-
5Amp-
WFDC1-
-
-
-
1Loss-
WFIKKN1-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WHAMM-
-
-
-
1Loss-
WIPI1-
-
-
-
3Gain-
WLS-
-
-
-
5Amp-
WNT1-
-
-
-
1Loss-
WNT10B-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT2p.D232N
Missense
SNP
0.422
2--
WNT2B-
-
-
-
5Amp-
WNT4-
-
-
-
5Amp-
WRAP53-
-
-
-
3Gain-
WRAP73-
-
-
-
5Amp-
WRNIP1-
-
-
-
3Gain-
WSCD1-
-
-
-
3Gain-
WT1p.R370C
Missense
SNP
0.560
2--
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
WWTR1-
-
-
-
3Gain-
XAB2p.A91V
Missense
SNP
0.540
2--
XAF1-
-
-
-
3Gain-
XIRP2p.H1344Y
Missense
SNP
0.467
2--
XKR8-
-
-
-
5Amp-
XPO4-
-
-
-
1Loss-
XPO6-
-
-
-
1Loss-
XRN1-
-
-
-
3Gain-
XRRA1-
-
-
-
1Loss-
XXYLT1-
-
-
-
3Gain-
XYLT1-
-
-
-
8Amp-
YARS-
-
-
-
5Amp-
YBX1-
-
-
-
5Amp-
YBX2-
-
-
-
3Gain-
YDJC-
-
-
-
1Loss-
YEATS2-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YIF1A-
-
-
-
1Loss-
YIPF1-
-
-
-
5Amp-
YPEL1-
-
-
-
1Loss-
YPEL2-
-
-
-
3Gain-
YPEL3-
-
-
-
1Loss-
YPEL4-
-
-
-
1Loss-
YRDC-
-
-
-
5Amp-
YTHDF2-
-
-
-
5Amp-
YWHAE-
-
-
-
3Gain-
ZACN-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED6-
-
-
-
1Loss-
ZBED9-
-
-
-
3Gain-
ZBTB11p.R764*
Nonsense
SNP
0.648
3Gain-
ZBTB14-
-
-
-
3Gain-
ZBTB17-
-
-
-
5Amp-
ZBTB2p.E205K
p.E96K
Missense
Missense
SNP
SNP
0.557
0.635
2--
ZBTB20-
-
-
-
3Gain-
ZBTB3-
-
-
-
1Loss-
ZBTB38-
-
-
-
3Gain-
ZBTB39-
-
-
-
1Loss-
ZBTB4-
-
-
-
3Gain-
ZBTB40-
-
-
-
5Amp-
ZBTB44-
-
-
-
1Loss-
ZBTB48-
-
-
-
5Amp-
ZBTB49-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZBTB8A-
-
-
-
5Amp-
ZBTB8B-
-
-
-
5Amp-
ZBTB8OS-
-
-
-
5Amp-
ZBTB9p.P245S
Missense
SNP
0.439
2--
ZC3H10-
-
-
-
1Loss-
ZC3H11A-
-
-
-
1Loss-
ZC3H12A-
-
-
-
5Amp-
ZC3H13-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZC3H3-
-
-
-
1Loss-
ZC3H7A-
-
-
-
8Amp-
ZCCHC14-
-
-
-
1Loss-
ZCCHC17-
-
-
-
5Amp-
ZCCHC2-
-
-
-
1Loss-
ZDHHC1-
-
-
-
1Loss-
ZDHHC11-
-
-
-
1Loss-
ZDHHC11B-
-
-
-
1Loss-
ZDHHC17-
-
-
-
3Gain-
ZDHHC18-
-
-
-
5Amp-
ZDHHC19-
-
-
-
3Gain-
ZDHHC2p.S167L
Missense
SNP
0.500
2--
ZDHHC20-
-
-
-
1Loss-
ZDHHC23-
-
-
-
3Gain-
ZDHHC24-
-
-
-
1Loss-
ZDHHC5-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
1Loss-
ZFAND6-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFHX4p.P2463S
Missense
SNP
0.392
2--
ZFP1-
-
-
-
1Loss-
ZFP3-
-
-
-
3Gain-
ZFP41-
-
-
-
1Loss-
ZFP69-
-
-
-
5Amp-
ZFP69B-
-
-
-
5Amp-
ZFP90-
-
-
-
1Loss-
ZFP91p.P138S
Missense
SNP
0.652
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFYVE28p.D338N
Missense
SNP
0.730
1Loss-
ZFYVE9-
-
-
-
5Amp-
ZG16-
-
-
-
1Loss-
ZG16B-
-
-
-
1Loss-
ZIC1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC4-
-
-
-
3Gain-
ZIC5-
-
-
-
1Loss-
ZKSCAN2-
-
-
-
1Loss-
ZKSCAN3-
-
-
-
3Gain-
ZKSCAN4-
-
-
-
3Gain-
ZKSCAN8-
-
-
-
3Gain-
ZMAT1p.L636F
Missense
SNP
1.000
NDND-
ZMAT3-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
5Amp-
ZMYM1-
-
-
-
5Amp-
ZMYM2-
-
-
-
1Loss-
ZMYM4-
-
-
-
5Amp-
ZMYM5-
-
-
-
1Loss-
ZMYM6-
-
-
-
5Amp-
ZMYND12-
-
-
-
5Amp-
ZMYND15-
-
-
-
3Gain-
ZNF141-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF16-
-
-
-
1Loss-
ZNF165-
-
-
-
3Gain-
ZNF174-
-
-
-
1Loss-
ZNF18-
-
-
-
3Gain-
ZNF184-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF200-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF205-
-
-
-
1Loss-
ZNF211p.F72L
Missense
SNP
0.533
2--
ZNF213-
-
-
-
1Loss-
ZNF222p.S108F
Missense
SNP
0.468
2--
ZNF23-
-
-
-
1Loss-
ZNF232-
-
-
-
3Gain-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF250-
-
-
-
1Loss-
ZNF251-
-
-
-
1Loss-
ZNF263-
-
-
-
1Loss-
ZNF267-
-
-
-
1Loss-
ZNF276-
-
-
-
1Loss-
ZNF280Bp.P435L
Missense
SNP
0.662
2--
ZNF286A-
-
-
-
3Gain-
ZNF286B-
-
-
-
3Gain-
ZNF287-
-
-
-
3Gain-
ZNF300-
-
-
-
1Loss-
ZNF311-
-
-
-
3Gain-
ZNF319-
-
-
-
1Loss-
ZNF322-
-
-
-
3Gain-
ZNF326-
-
-
-
5Amp-
ZNF34-
-
-
-
1Loss-
ZNF362-
-
-
-
5Amp-
ZNF385A-
-
-
-
1Loss-
ZNF391-
-
-
-
3Gain-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF418p.R658*
Nonsense
SNP
0.536
2--
ZNF423-
-
-
-
1Loss-
ZNF436-
-
-
-
5Amp-
ZNF451-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF48-
-
-
-
1Loss-
ZNF492p.R385K
Missense
SNP
0.359
2--
ZNF500-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
1Loss-
ZNF519-
-
-
-
3Gain-
ZNF521p.S568L
Missense
SNP
0.429
2--
ZNF532-
-
-
-
1Loss-
ZNF583p.W65*
Nonsense
SNP
0.495
2--
ZNF592-
-
-
-
1Loss-
ZNF593-
-
-
-
5Amp-
ZNF594-
-
-
-
3Gain-
ZNF595-
-
-
-
1Loss-
ZNF597-
-
-
-
1Loss-
ZNF598-
-
-
-
1Loss-
ZNF623-
-
-
-
1Loss-
ZNF624-
-
-
-
3Gain-
ZNF629-
-
-
-
1Loss-
ZNF639-
-
-
-
3Gain-
ZNF641-
-
-
-
1Loss-
ZNF644-
-
-
-
5Amp-
ZNF646-
-
-
-
1Loss-
ZNF668-
-
-
-
1Loss-
ZNF683-
-
-
-
5Amp-
ZNF684-
-
-
-
5Amp-
ZNF688-
-
-
-
1Loss-
ZNF689-
-
-
-
1Loss-
ZNF691-
-
-
-
5Amp-
ZNF696-
-
-
-
1Loss-
ZNF697-
-
-
-
5Amp-
ZNF7-
-
-
-
1Loss-
ZNF700p.R409*
Nonsense
SNP
0.464
2--
ZNF707-
-
-
-
1Loss-
ZNF716p.R288K
Missense
SNP
0.523
2--
ZNF718-
-
-
-
1Loss-
ZNF720-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF727p.R304K
Missense
SNP
0.472
2--
ZNF732-
-
-
-
1Loss-
ZNF74-
-
-
-
1Loss-
ZNF740-
-
-
-
1Loss-
ZNF747-
-
-
-
1Loss-
ZNF750-
-
-
-
1Loss-
ZNF75A-
-
-
-
1Loss-
ZNF764-
-
-
-
1Loss-
ZNF768-
-
-
-
1Loss-
ZNF771-
-
-
-
1Loss-
ZNF778-
-
-
-
1Loss-
ZNF785-
-
-
-
1Loss-
ZNF792p.E587K
p.L486V
p.P176S
Missense
Missense
Missense
SNP
SNP
SNP
0.517
0.558
0.431
2--
ZNF80-
-
-
-
3Gain-
ZNF808p.P212L
Missense
SNP
0.514
2--
ZNF821-
-
-
-
1Loss-
ZNF843-
-
-
-
1Loss-
ZNF878p.S241L
Missense
SNP
0.442
2--
ZNHIT2-
-
-
-
1Loss-
ZNHIT6-
-
-
-
5Amp-
ZNRF1-
-
-
-
1Loss-
ZNRF3p.S291F
Missense
SNP
0.359
2--
ZP1p.D97N
Missense
SNP
0.582
1Loss-
ZP2-
-
-
-
1Loss-
ZPBP2p.G82E
Missense
SNP
1.000
2--
ZPLD1-
-
-
-
3Gain-
ZPR1-
-
-
-
1Loss-
ZRANB2-
-
-
-
5Amp-
ZSCAN10-
-
-
-
1Loss-
ZSCAN12-
-
-
-
3Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN2-
-
-
-
1Loss-
ZSCAN20-
-
-
-
5Amp-
ZSCAN23-
-
-
-
3Gain-
ZSCAN26-
-
-
-
3Gain-
ZSCAN30-
-
-
-
1Loss-
ZSCAN31-
-
-
-
3Gain-
ZSCAN32-
-
-
-
1Loss-
ZSCAN5Ap.S324F
Missense
SNP
0.513
2--
ZSCAN9-
-
-
-
3Gain-
ZSWIM5-
-
-
-
5Amp-
ZSWIM7-
-
-
-
3Gain-
ZXDC-
-
-
-
3Gain-
ZYG11A-
-
-
-
5Amp-
ZYG11Bp.P653L
Missense
SNP
0.115
5Amp-
ZZEF1-
-
-
-
3Gain-