PDMR-695669~166-R~WR8VB8-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CFp.Y106*
Nonsense
SNP
0.505
2--
A3GALT2-
-
-
-
6Amp-
A4GALT-
-
-
-
3Gain-
AACS-
-
-
-
4Gain-
AAMDC-
-
-
-
3Gain-
AARS-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
AATKp.E1294K
Missense
SNP
0.496
2--
ABCA4p.R621K
Missense
SNP
0.442
2--
ABCA7p.S864F
Missense
SNP
0.553
2--
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
3Gain-
ABCC1p.S289F
Missense
SNP
0.551
2--
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCF2-
-
-
-
3Gain-
ABCG4-
-
-
-
1Loss-
ABHD17C-
-
-
-
1Loss-
ABI3BPp.R659K
Missense
SNP
0.462
2--
ABLIM3-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
AC002996.1-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
3Gain-
AC004997.1-
-
-
-
3Gain-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC007326.4-
-
-
-
3Gain-
AC007731.5-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC012184.2-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022414.1-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026786.1-
-
-
-
4Gain-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC048338.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
1Loss-
AC069503.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC104109.3-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC113348.2-
-
-
-
1Loss-
AC114490.2-
-
-
-
10Amp-
AC114490.3-
-
-
-
10Amp-
AC116366.3-
-
-
-
1Loss-
AC118470.1-
-
-
-
3Gain-
AC119674.2-
-
-
-
5Amp-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
AC142391.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
AC253536.7-
-
-
-
3Gain-
ACACBp.R1798C
Missense
SNP
0.306
3Gain-
ACAD10-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACADM-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAT1-
-
-
-
1Loss-
ACBD3p.R206C
Missense
SNP
0.470
2--
ACD-
-
-
-
1Loss-
ACER3-
-
-
-
3Gain-
ACO2-
-
-
-
3Gain-
ACOT11-
-
-
-
5Amp-
ACOT12-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACRV1-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACTB-
-
-
-
2-MIF--ACTB
ACTBL2-
-
-
-
1Loss-
ACTL9p.S14F
Missense
SNP
0.500
2--
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR6-
-
-
-
3Gain-
ADA2-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAM10p.G34R
Missense
SNP
0.510
2--
ADAM18p.G312E
p.G667E
Missense
Missense
SNP
SNP
0.481
0.500
2--
ADAM19-
-
-
-
1Loss-
ADAM20p.E617K
Missense
SNP
0.489
2--
ADAM7p.H400Y
Missense
SNP
0.523
2--
ADAMTS10p.P764L
Missense
SNP
0.527
2--
ADAMTS12p.Q563*
Nonsense
SNP
0.457
2--
ADAMTS15-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS20-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9p.S867F
Missense
SNP
0.447
2--
ADAT1-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCY1p.E899K
Missense
SNP
0.506
2--
ADCY5p.E1061K
Missense
SNP
0.461
2--
ADCY7-
-
-
-
1Loss-
ADGRB2-
-
-
-
3Gain-
ADGRD1-
-
-
-
4Gain-
ADGRF4p.E373K
Missense
SNP
0.995
2--
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG4p.L1468F
Missense
SNP
1.000
NDND-
ADGRG5-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADH1Ap.R38C
Missense
SNP
0.494
2--
ADH1Bp.S266L
Missense
SNP
0.491
2--
ADH6p.E155K
Missense
SNP
0.470
2--
ADIPOQp.P155S
Missense
SNP
0.439
2--
ADORA2A-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADSL-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
AFAP1L1-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AGAP3-
-
-
-
3Gain-
AGBL2-
-
-
-
1Loss-
AGBL3-
-
-
-
3Gain-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AHCTF1-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHNAK-
-
-
-
1Loss-
AIFM3-
-
-
-
3Gain-
AIM1p.D1315N
Missense
SNP
0.310
NDND-
AIP-
-
-
-
4Gain-
AIPL1-
-
-
-
1Loss-
AK2-
-
-
-
6Amp-
AK6-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP11p.P989S
Missense
SNP
0.549
2--
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL021546.1-
-
-
-
3Gain-
AL022238.4-
-
-
-
3Gain-
AL022318.4-
-
-
-
3Gain-
AL357673.1-
-
-
-
5Amp-
ALDH1L1p.W592*
Nonsense
SNP
0.489
2--
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALDOBp.S65F
Missense
SNP
0.486
2--
ALG8-
-
-
-
3Gain-
ALG9-
-
-
-
1Loss-
ALKBH2-
-
-
-
3Gain-
ALKBH5-
-
-
-
1Loss-
ALKBH8-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMDHD1-
-
-
-
3Gain-
AMFR-
-
-
-
1Loss-
AMIGO2-
-
-
-
3Gain-
AMOTL1-
-
-
-
1Loss-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANGPTL5-
-
-
-
1Loss-
ANHX-
-
-
-
4Gain-
ANK3p.D1322N
Missense
SNP
0.470
2--
ANKDD1B-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKK1-
-
-
-
1Loss-
ANKLE2-
-
-
-
4Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD13A-
-
-
-
3Gain-
ANKRD13D-
-
-
-
6Amp-
ANKRD31-
-
-
-
1Loss-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD35p.G520R
Missense
SNP
0.411
2--
ANKRD42-
-
-
-
1Loss-
ANKRD49-
-
-
-
1Loss-
ANKRD54-
-
-
-
3Gain-
ANKRD55-
-
-
-
1Loss-
ANKS1B-
-
-
-
3Gain-
ANO1-
-
-
-
7Amp-
ANO4p.G522E
Missense
SNP
0.231
3Gain-
ANO6-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
AOC1-
-
-
-
3Gain-
AP000350.4-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP001931.1-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
4Gain-
AP1B1-
-
-
-
3Gain-
AP1G1-
-
-
-
1Loss-
AP2S1p.A53V
Missense
SNP
0.500
2--
AP3B1-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP5B1-
-
-
-
1Loss-
APAF1-
-
-
-
3Gain-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APLNR-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBp.P1299S
Missense
SNP
0.462
2--
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3H-
-
-
-
3Gain-
APOC3-
-
-
-
1Loss-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APRT-
-
-
-
1Loss-
AQP11-
-
-
-
3Gain-
ARAP3-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARFGAP2-
-
-
-
1Loss-
ARFGAP3-
-
-
-
3Gain-
ARHGAP1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP32-
-
-
-
1Loss-
ARHGAP42-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGEF12-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARID2p.R274*
Nonsense
SNP
1.000
1Loss-
ARID3B-
-
-
-
1Loss-
ARL1-
-
-
-
3Gain-
ARL10-
-
-
-
1Loss-
ARL13Bp.Y85H
Missense
SNP
0.451
2--
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL6IP4-
-
-
-
3Gain-
ARMC4p.S597L
p.D256N
p.E224K
Missense
Missense
Missense
SNP
SNP
SNP
0.505
0.463
0.475
2--
ARNT2-
-
-
-
1Loss-
ARPC3-
-
-
-
3Gain-
ARRB1-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ARVCF-
-
-
-
3Gain-
ASAP3-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB17-
-
-
-
3Gain-
ASCC2-
-
-
-
3Gain-
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASIC3-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPHD2-
-
-
-
3Gain-
ASRGL1-
-
-
-
1Loss-
ASTN1p.E502K
Missense
SNP
0.592
2--
ASXL3p.M214I
Missense
SNP
0.475
2--
ATAD2Bp.R821C
Missense
SNP
0.523
2--
ATAD5p.E1834K
Missense
SNP
0.500
2--
ATF4-
-
-
-
3Gain-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG13-
-
-
-
1Loss-
ATG2A-
-
-
-
1Loss-
ATG5-
-
-
-
2-HMGN3--ATG5
ATG9B-
-
-
-
3Gain-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11Bp.R165*
Nonsense
SNP
0.493
2--
ATP1B2-
-
-
-
1Loss-
ATP2A2p.P783S
Missense
SNP
0.248
3Gain-
ATP2A3-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5MGL-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0E1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN2-
-
-
-
3Gain-
ATXN7p.P434S
Missense
SNP
0.507
2--
AURKB-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AXDND1p.E569K
p.E827K
Missense
Missense
SNP
SNP
0.526
0.512
2--
AZIN2-
-
-
-
6Amp-
B2M-
-
-
-
1Loss-
B3GALT1p.P78L
Missense
SNP
0.515
2--
B3GAT1-
-
-
-
1Loss-
B3GAT3-
-
-
-
1Loss-
B3GNT4-
-
-
-
3Gain-
B3GNT6-
-
-
-
3Gain-
B3GNT9-
-
-
-
1Loss-
B4GALT7-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BAD-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
3Gain-
BANF1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BATF2-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BCAMp.D252N
Missense
SNP
0.485
2--
BCAR1-
-
-
-
1Loss-
BCL11Ap.G709R
Missense
SNP
0.495
2--
BCL2A1-
-
-
-
1Loss-
BCL2L13-
-
-
-
3Gain-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
3Gain-
BCL9Lp.A82V
Missense
SNP
1.000
1Loss-
BCLAF1p.S4F
Missense
SNP
0.457
2--
BCO1-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BCR-
-
-
-
3Gain-
BDP1-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEST1-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICDL1-
-
-
-
3Gain-
BID-
-
-
-
3Gain-
BIK-
-
-
-
3Gain-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BMP2p.P317S
Missense
SNP
0.475
2--
BMS1p.H233Y
Missense
SNP
0.528
2--
BNIP1-
-
-
-
1Loss-
BOD1-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPIFC-
-
-
-
3Gain-
BRAFp.V600K
Missense
DNP
0.738
3Gain-
BRAP-
-
-
-
3Gain-
BRD7-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRI3BP-
-
-
-
4Gain-
BRINP2p.G478R
Missense
SNP
0.535
2--
BSCL2-
-
-
-
1Loss-
BSDC1-
-
-
-
3Gain-
BSND-
-
-
-
5Amp-
BSX-
-
-
-
1Loss-
BTAF1p.L1500F
Missense
SNP
0.473
2--
BTBD1-
-
-
-
2-BTBD1--HDGFL3
BTBD11-
-
-
-
3Gain-
BTBD18-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
C10orf105p.W90*
Nonsense
SNP
0.463
2--
C11orf1-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf68-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf86-
-
-
-
3Gain-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C14orf39p.E468K
Missense
SNP
0.362
2--
C15orf39-
-
-
-
1Loss-
C15orf53p.R140Q
Missense
SNP
0.466
2--
C16orf45p.R69C
Missense
SNP
0.615
2--
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf106p.S558L
Missense
SNP
0.568
NDND-
C1orf216-
-
-
-
3Gain-
C1orf226p.D303N
Missense
SNP
0.444
2--
C1orf94-
-
-
-
6Amp-
C1QBP-
-
-
-
1Loss-
C1QL4-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C1QTNF4-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C1QTNF6-
-
-
-
3Gain-
C20orf96p.P80L
Missense
SNP
0.475
2--
C22orf15-
-
-
-
3Gain-
C22orf23-
-
-
-
3Gain-
C22orf31-
-
-
-
3Gain-
C22orf39-
-
-
-
3Gain-
C22orf42-
-
-
-
3Gain-
C22orf46-
-
-
-
3Gain-
C2CD2L-
-
-
-
1Loss-
C2CD3p.P902S
Missense
SNP
0.465
2--
C2orf16p.E500K
Missense
SNP
0.484
2--
C2orf66p.P87S
Missense
SNP
0.489
2--
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4orf22p.R134C
Missense
SNP
0.474
NDND-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C7orf33-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8Ap.G396E
Missense
SNP
0.182
5Amp-
C8B-
-
-
-
5Amp-
C9p.R311C
Missense
SNP
0.483
2--
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CABIN1-
-
-
-
3Gain-
CABP1-
-
-
-
3Gain-
CABP2-
-
-
-
4Gain-
CABP4-
-
-
-
4Gain-
CABP7-
-
-
-
3Gain-
CACNA1Hp.E452K
Missense
SNP
0.493
2--
CACNA1Ip.S1993F
Missense
SNP
0.363
3Gain-
CACNA2D1p.R1041Q
Missense
SNP
0.464
2--
CACNG2-
-
-
-
3Gain-
CADM1-
-
-
-
1Loss-
CADPS2-
-
-
-
3Gain-
CALB2-
-
-
-
1Loss-
CALCRp.R144Q
Missense
SNP
0.494
2--
CALD1-
-
-
-
3Gain-
CALN1p.H184Y
Missense
SNP
0.698
2--
CALU-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKK2-
-
-
-
3Gain-
CAMLG-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CANX-
-
-
-
1Loss-
CAPN1-
-
-
-
1Loss-
CAPN13p.E380K
Missense
SNP
0.507
2--
CAPN14p.P637S
Missense
SNP
0.477
2--
CAPN5-
-
-
-
3Gain-
CAPNS2-
-
-
-
1Loss-
CAPSLp.L208F
Missense
SNP
0.476
2--
CAPZA3p.R82Q
Missense
SNP
0.447
2--
CARD10-
-
-
-
3Gain-
CARD11p.R647S
Missense
SNP
0.467
2--
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARMIL2-
-
-
-
1Loss-
CARNS1-
-
-
-
4Gain-
CARTPT-
-
-
-
1Loss-
CASP1-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP2-
-
-
-
3Gain-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CAST-
-
-
-
1Loss-
CASTOR1-
-
-
-
3Gain-
CATSPER1-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERZ-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBX5-
-
-
-
1Loss-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBY1-
-
-
-
3Gain-
CBY3-
-
-
-
1Loss-
CCBE1p.P246S
Missense
SNP
0.611
2--
CCDC102A-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC116-
-
-
-
3Gain-
CCDC117-
-
-
-
3Gain-
CCDC125-
-
-
-
1Loss-
CCDC134-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC141p.E832K
Missense
SNP
0.535
2--
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC149p.H282Y
Missense
SNP
0.547
2--
CCDC15-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC157-
-
-
-
3Gain-
CCDC158p.M726I
Missense
SNP
0.502
2--
CCDC180p.F225L
Missense
SNP
0.518
2--
CCDC185p.G74E
Missense
SNP
0.472
2--
CCDC188-
-
-
-
3Gain-
CCDC28B-
-
-
-
3Gain-
CCDC38-
-
-
-
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC69-
-
-
-
1Loss-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC86-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCDC92-
-
-
-
4Gain-
CCER1-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCND1-
-
-
-
7Amp-
CCNG1-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCR8p.S289F
Missense
SNP
0.504
2--
CCT8L2-
-
-
-
3Gain-
CD14-
-
-
-
1Loss-
CD163p.S606F
Missense
SNP
0.552
2--
CD163L1p.D987N
Missense
SNP
0.439
2--
CD180-
-
-
-
1Loss-
CD1Bp.G228E
Missense
SNP
0.529
2--
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD5-
-
-
-
1Loss-
CD6-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC40p.S525L
Missense
SNP
0.458
2--
CDC42BPG-
-
-
-
1Loss-
CDC42EP1-
-
-
-
3Gain-
CDC42EP2-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDC45-
-
-
-
3Gain-
CDCA5-
-
-
-
1Loss-
CDCP2-
-
-
-
5Amp-
CDH1-
-
-
-
1Loss-
CDH10p.G504E
Missense
SNP
0.467
3Gain-
CDH11-
-
-
-
1Loss-
CDH12-
-
-
-
3Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH18p.R357C
Missense
SNP
0.500
3Gain-
CDH2p.P642L
Missense
SNP
0.464
2--
CDH23p.M6I
Missense
SNP
0.402
2--
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
3Gain-
CDH8-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDHR2-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK17-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK2AP2-
-
-
-
4Gain-
CDK5-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDR1p.D122N
Missense
SNP
0.997
NDND-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CECR2p.S61F
Missense
SNP
0.685
3Gain-
CELF1-
-
-
-
1Loss-
CELSR2p.R45Q
Missense
SNP
0.477
2--
CEMIP-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPM-
-
-
-
3Gain-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP120p.R563C
Missense
SNP
1.000
1Loss-
CEP126-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP295-
-
-
-
1Loss-
CEP41-
-
-
-
3Gain-
CEP57-
-
-
-
1Loss-
CEP83-
-
-
-
5Amp-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP161-
-
-
-
1Loss-
CFAP20-
-
-
-
1Loss-
CFAP300-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP54-
-
-
-
3Gain-
CFAP58p.Q278*
Nonsense
SNP
0.569
2--
CFAP65p.H53Y
Missense
SNP
0.565
2--
CFAP73-
-
-
-
3Gain-
CFAP74p.P660L
Missense
SNP
0.488
2--
CFDP1-
-
-
-
1Loss-
CFL1-
-
-
-
1Loss-
CFTRp.L184F
Missense
SNP
0.437
2--
CHADL-
-
-
-
3Gain-
CHCHD10-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD9-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHEK2-
-
-
-
3Gain-
CHFR-
-
-
-
4Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHORDC1-
-
-
-
1Loss-
CHPF2-
-
-
-
3Gain-
CHPT1-
-
-
-
3Gain-
CHRDL2-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRM4-
-
-
-
1Loss-
CHRNA3-
-
-
-
1Loss-
CHRNA5-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB4-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST11-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIT-
-
-
-
3Gain-
CKAP5-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLCF1-
-
-
-
4Gain-
CLCN1-
-
-
-
3Gain-
CLDN25-
-
-
-
1Loss-
CLDN5-
-
-
-
3Gain-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLGNp.E558K
p.E87K
Missense
Missense
SNP
SNP
0.514
0.509
2--
CLINT1-
-
-
-
1Loss-
CLIP1-
-
-
-
3Gain-
CLIP2p.G331E
Missense
SNP
0.525
2--
CLK3-
-
-
-
1Loss-
CLK4-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLNS1A-
-
-
-
3Gain-
CLP1-
-
-
-
1Loss-
CLSTN2p.D878N
Missense
SNP
0.419
2--
CLTB-
-
-
-
1Loss-
CLTCL1-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLVS1p.G18E
Missense
SNP
0.412
2--
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMKLR1-
-
-
-
3Gain-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT6-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNR2-
-
-
-
5Amp-
CNST-
-
-
-
3Gain-
CNTF-
-
-
-
1Loss-
CNTN4p.G784E
Missense
SNP
0.421
2--
CNTN5-
-
-
-
1Loss-
CNTN6p.P992S
Missense
SNP
0.469
2--
CNTNAP2p.G793R
Missense
SNP
0.589
3Gain-
CNTNAP4-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COBLp.P854L
Missense
SNP
0.511
2--
COG4-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL14A1p.A1029T
Missense
SNP
0.547
2--
COL16A1-
-
-
-
3Gain-
COL20A1p.P272L
Missense
SNP
0.438
2--
COL21A1p.P523S
p.G112E
Missense
Missense
SNP
SNP
0.541
0.496
2--
COL23A1-
-
-
-
1Loss-
COL3A1p.G228E
Missense
SNP
0.542
2--
COL4A3p.G783E
Missense
SNP
0.555
2--
COL4A3BP-
-
-
-
1Loss-
COL4A4p.G542E
Missense
SNP
0.384
2--
COL5A3p.G1163R
Missense
SNP
0.526
2--
COL9A1p.G884E
Missense
SNP
0.665
2--
COLCA2-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD4-
-
-
-
1Loss-
COMT-
-
-
-
3Gain-
COPAp.R206C
Missense
SNP
0.374
2--
COPG2-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COQ5-
-
-
-
3Gain-
COQ9-
-
-
-
1Loss-
CORINp.S693F
p.M464I
Missense
Missense
SNP
SNP
0.559
0.507
2--
CORO1B-
-
-
-
4Gain-
CORO1C-
-
-
-
3Gain-
COTL1-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX5A-
-
-
-
1Loss-
COX6A1-
-
-
-
3Gain-
COX7C-
-
-
-
1Loss-
COX8A-
-
-
-
1Loss-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLX2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPNE2-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPSF7-
-
-
-
1Loss-
CPT1Bp.R285C
Missense
SNP
0.532
NDND-
CPT1Cp.W94*
p.R155C
Nonsense
Missense
SNP
SNP
0.517
0.573
2--
CR1p.A1686V
Missense
SNP
0.467
2--
CR2p.G764E
Missense
SNP
0.451
2--
CRABP1-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CRB1p.L1359F
Missense
SNP
0.470
2--
CREB3L1-
-
-
-
1Loss-
CREB3L2-
-
-
-
3Gain-
CREBRF-
-
-
-
1Loss-
CREBZF-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRISPLD2-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRY1-
-
-
-
3Gain-
CRY2-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBA4-
-
-
-
3Gain-
CRYBB1-
-
-
-
3Gain-
CRYBB2-
-
-
-
3Gain-
CRYBB3-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CRYZ-
-
-
-
3Gain-
CSDC2-
-
-
-
3Gain-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF2RB-
-
-
-
3Gain-
CSK-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD1p.G190E
Missense
SNP
0.500
2--
CSMD2p.P3040S
p.E1800K
p.D662N
Missense
Missense
Missense
SNP
SNP
SNP
0.789
0.162
0.772
6Amp-
CSNK1A1-
-
-
-
1Loss-
CSNK1E-
-
-
-
3Gain-
CSNK1G3-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CST6-
-
-
-
1Loss-
CTAGE4-
-
-
-
3Gain-
CTAGE6p.D464N
Missense
SNP
0.244
NDND-
CTAGE8-
-
-
-
3Gain-
CTC1-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTCFLp.E214K
Missense
SNP
0.441
2--
CTDNEP1-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNA3p.L138F
Missense
SNP
0.476
2--
CTNND1-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSW-
-
-
-
1Loss-
CTTN-
-
-
-
10Amp-
CTU2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CUX1p.E1148K
Missense
SNP
0.442
2--
CUX2-
-
-
-
3Gain-
CWC15-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CWH43p.D233N
Missense
SNP
0.542
2--
CX3CL1-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561A3-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R3-
-
-
-
3Gain-
CYB5RL-
-
-
-
5Amp-
CYBA-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYLC1p.D408N
Missense
SNP
1.000
NDND-
CYLD-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP2C9p.T130M
p.P427L
Missense
Missense
SNP
SNP
0.458
0.521
2--
CYP2D6-
-
-
-
3Gain-
CYP2D7-
-
-
-
3Gain-
CYP2E1p.D167N
Missense
SNP
0.437
2--
CYP8B1p.R407C
Missense
SNP
0.456
2--
CYREN-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH4-
-
-
-
3Gain-
DAAM2p.P43L
Missense
SNP
1.000
2--
DAB1-
-
-
-
5Amp-
DACH1p.P560S
Missense
SNP
0.455
2--
DAGLA-
-
-
-
1Loss-
DAO-
-
-
-
3Gain-
DAPK3p.R253C
Missense
SNP
0.500
2--
DAPP1p.G268E
Missense
SNP
0.486
2--
DBF4Bp.H312Y
Missense
SNP
0.470
2--
DBN1-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DBX1p.M234I
Missense
SNP
0.419
2--
DBX2-
-
-
-
1Loss-
DCAF4L1p.E360K
Missense
SNP
0.477
2--
DCANP1-
-
-
-
1Loss-
DCCp.E225K
Missense
SNP
0.443
2--
DCD-
-
-
-
1Loss-
DCDC2B-
-
-
-
3Gain-
DCHS2p.D1749N
p.D1000N
Missense
Missense
SNP
SNP
0.488
0.488
2--
DCN-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCUN1D5-
-
-
-
1Loss-
DDB1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDI1-
-
-
-
1Loss-
DDIAS-
-
-
-
1Loss-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX10-
-
-
-
1Loss-
DDX17-
-
-
-
3Gain-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX23p.S23L
Missense
SNP
0.488
2--
DDX25-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX51-
-
-
-
4Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND2A-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC1p.S338F
Missense
SNP
0.562
2--
DEPDC1B-
-
-
-
1Loss-
DEPDC4-
-
-
-
3Gain-
DEPDC5-
-
-
-
3Gain-
DERL2-
-
-
-
1Loss-
DERL3-
-
-
-
3Gain-
DESI1-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DEUP1-
-
-
-
1Loss-
DGAT2-
-
-
-
1Loss-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKGp.P661L
Missense
SNP
0.495
2--
DGKHp.S502F
Missense
SNP
0.390
2--
DGKI-
-
-
-
3Gain-
DGKZ-
-
-
-
1Loss-
DHCR24-
-
-
-
5Amp-
DHCR7-
-
-
-
5Amp-
DHFR-
-
-
-
1Loss-
DHH-
-
-
-
3Gain-
DHODH-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX37-
-
-
-
4Gain-
DHX38-
-
-
-
1Loss-
DIABLO-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIO1-
-
-
-
4Gain-
DIP2Bp.R99*
Nonsense
SNP
0.523
2--
DISP3p.E1048K
Missense
SNP
0.466
2--
DIXDC1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLG1p.P921S
Missense
SNP
0.449
2--
DLG2-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP3-
-
-
-
10Amp-
DMBT1p.P222L
p.G738E
Missense
Missense
SNP
SNP
0.450
0.412
2--
DMC1-
-
-
-
3Gain-
DMGDH-
-
-
-
1Loss-
DMRTB1-
-
-
-
4Gain-
DMXL1-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAH10p.G2514E
Missense
SNP
0.322
3Gain-
DNAH14p.R3234C
Missense
SNP
0.449
2--
DNAH2-
-
-
-
1Loss-
DNAH3p.Q3837*
p.E3289K
p.D2836N
Nonsense
Missense
Missense
SNP
SNP
SNP
0.409
0.496
0.401
2--
DNAH9-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
3Gain-
DNAJC18-
-
-
-
1Loss-
DNAJC22-
-
-
-
3Gain-
DNAJC4-
-
-
-
1Loss-
DNAL4-
-
-
-
3Gain-
DND1-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK3p.P412S
p.P485L
p.E544K
Missense
Missense
Missense
SNP
SNP
SNP
0.445
0.548
0.565
2--
DOCK4p.S631F
Missense
SNP
0.367
2--
DOK3-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPP10p.G535E
Missense
SNP
0.533
2--
DPP6-
-
-
-
3Gain-
DPYDp.E273K
Missense
SNP
0.492
2--
DPYSL3-
-
-
-
1Loss-
DRAM1-
-
-
-
3Gain-
DRAP1-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRD5p.P202L
Missense
SNP
0.473
2--
DRG1-
-
-
-
3Gain-
DRG2-
-
-
-
1Loss-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
3Gain-
DRP2p.D716N
Missense
SNP
1.000
NDND-
DSC2p.R621K
Missense
SNP
0.702
2--
DSCAMp.R1514K
Missense
SNP
0.450
2--
DSCAML1-
-
-
-
1Loss-
DSG4p.R816*
Nonsense
SNP
0.480
2--
DTWD2-
-
-
-
1Loss-
DTX1-
-
-
-
3Gain-
DTX4-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUSP18-
-
-
-
3Gain-
DUSP27p.G369R
Missense
SNP
0.435
2--
DUXB-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYNLL1-
-
-
-
3Gain-
DYNLRB2-
-
-
-
1Loss-
E2F2-
-
-
-
3Gain-
E2F4-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
ECSCR-
-
-
-
1Loss-
EDC3-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EDDM3Bp.M54L
Missense
SNP
0.429
2--
EDIL3-
-
-
-
1Loss-
EEA1-
-
-
-
1Loss-
EED-
-
-
-
1Loss-
EEF1G-
-
-
-
1Loss-
EFCAB1p.G99R
Missense
SNP
0.492
2--
EFCAB2-
-
-
-
3Gain-
EFCAB6-
-
-
-
3Gain-
EFCAB9-
-
-
-
1Loss-
EFEMP2-
-
-
-
1Loss-
EFNA5-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFTUD2p.S818F
Missense
SNP
0.481
2--
EGFRp.S177W
p.S306L
Missense
Missense
SNP
SNP
0.511
0.453
2--
EGR1-
-
-
-
1Loss-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EID3-
-
-
-
3Gain-
EIF1AD-
-
-
-
1Loss-
EIF2B1-
-
-
-
3Gain-
EIF3D-
-
-
-
3Gain-
EIF3I-
-
-
-
3Gain-
EIF3L-
-
-
-
3Gain-
EIF4A1-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELFN2-
-
-
-
3Gain-
ELK3-
-
-
-
3Gain-
ELL2p.P329H
Missense
SNP
1.000
1Loss-
ELMO3-
-
-
-
1Loss-
ELMOD1-
-
-
-
1Loss-
ELOA-
-
-
-
5Amp-
ELOVL7-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMID1-
-
-
-
3Gain-
EML3-
-
-
-
1Loss-
EML5p.P1050S
Missense
SNP
0.506
2--
EMSY-
-
-
-
3Gain-
EN2-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENDOU-
-
-
-
3Gain-
ENKD1-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENTHD1-
-
-
-
3Gain-
EP300-
-
-
-
3Gain-
EP400-
-
-
-
4Gain-
EPB41-
-
-
-
3Gain-
EPB41L1p.D725N
Missense
SNP
0.447
2--
EPB41L4A-
-
-
-
1Loss-
EPB41L4Bp.E249K
Missense
SNP
0.431
2--
EPHA1-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPN2-
-
-
-
1Loss-
EPPK1p.S1150F
Missense
SNP
0.522
2--
EPYC-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB4p.R196C
Missense
SNP
0.527
2--
ERBIN-
-
-
-
1Loss-
ERC2p.S321N
Missense
SNP
0.494
NDND-
ERCC8-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERICH3-
-
-
-
3Gain-
ERICH5p.R313Q
Missense
SNP
0.464
2--
ERP29-
-
-
-
3Gain-
ESAM-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESRRA-
-
-
-
1Loss-
ESS2-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EWSR1-
-
-
-
3Gain-
EXO1-
-
-
-
3Gain-
EXOC3L1-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOSC6-
-
-
-
1Loss-
EXPH5p.P479L
Missense
SNP
0.995
1Loss-
EZH2-
-
-
-
3Gain-
F12-
-
-
-
1Loss-
F2-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F5p.A539T
Missense
SNP
0.487
2--
FA2H-
-
-
-
1Loss-
FABP3-
-
-
-
3Gain-
FABP6-
-
-
-
1Loss-
FADD-
-
-
-
7Amp-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAH-
-
-
-
1Loss-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM118B-
-
-
-
1Loss-
FAM129Ap.E749K
Missense
SNP
0.453
2--
FAM131B-
-
-
-
3Gain-
FAM13B-
-
-
-
1Loss-
FAM151A-
-
-
-
5Amp-
FAM151B-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM167B-
-
-
-
3Gain-
FAM169A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM180B-
-
-
-
1Loss-
FAM181B-
-
-
-
1Loss-
FAM184Bp.E379K
Missense
SNP
0.465
2--
FAM192A-
-
-
-
1Loss-
FAM193B-
-
-
-
1Loss-
FAM216A-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM222A-
-
-
-
3Gain-
FAM227A-
-
-
-
3Gain-
FAM229A-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM53C-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM71Bp.G277R
Missense
SNP
0.987
1Loss-
FAM71C-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83F-
-
-
-
3Gain-
FAM83G-
-
-
-
1Loss-
FAM84Ap.P63S
Missense
SNP
0.502
2--
FAM89B-
-
-
-
1Loss-
FAM92B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FASTK-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAT3-
-
-
-
1Loss-
FAT4p.R2685Q
p.A3482V
Missense
Missense
SNP
SNP
0.461
0.533
2--
FAU-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN1p.R372C
Missense
SNP
0.547
NDND-
FBN2-
-
-
-
1Loss-
FBRSL1-
-
-
-
4Gain-
FBXL17-
-
-
-
1Loss-
FBXL7p.E162K
Missense
SNP
0.482
2--
FBXL8-
-
-
-
1Loss-
FBXO16p.S194F
Missense
SNP
0.459
2--
FBXO21-
-
-
-
3Gain-
FBXO22-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO7-
-
-
-
3Gain-
FBXW10-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW8-
-
-
-
3Gain-
FCGR2B-
-
-
-
1Loss-
FCGR2C-
-
-
-
1Loss-
FCGR3B-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCRL3p.G432E
Missense
SNP
0.453
2--
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FEN1-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FERMT2-
-
-
-
2-FERMT2--GNG4
FERMT3-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FGD3p.E572K
Missense
SNP
0.464
2--
FGD5p.P388L
p.G502E
Missense
Missense
SNP
SNP
0.498
0.486
2--
FGD6-
-
-
-
3Gain-
FGF1-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF19-
-
-
-
7Amp-
FGF3-
-
-
-
7Amp-
FGF4-
-
-
-
7Amp-
FGFR4-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FHOD1-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIBP-
-
-
-
1Loss-
FICD-
-
-
-
3Gain-
FILIP1p.E877K
Missense
SNP
0.265
2--
FKBP2-
-
-
-
1Loss-
FLCN-
-
-
-
1Loss-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNCp.D2389N
Missense
SNP
0.264
3Gain-
FLRT1-
-
-
-
1Loss-
FLT3p.E204K
Missense
SNP
0.416
2--
FLT4-
-
-
-
1Loss-
FMC1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC5-
-
-
-
6Amp-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOSL1-
-
-
-
1Loss-
FOXC2-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXL1-
-
-
-
1Loss-
FOXN4-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FOXRED2-
-
-
-
3Gain-
FRAS1p.R3533*
Nonsense
SNP
0.510
2--
FREM1p.P253L
Missense
SNP
0.583
2--
FRMD8-
-
-
-
1Loss-
FSCN3-
-
-
-
3Gain-
FSD1p.S56F
Missense
SNP
0.490
2--
FST-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTH1-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUCA1-
-
-
-
5Amp-
FUK-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FXNp.S57L
Missense
SNP
0.431
2--
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYB2-
-
-
-
5Amp-
FZD10-
-
-
-
4Gain-
FZD4-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
GAB2-
-
-
-
3Gain-
GAB4-
-
-
-
3Gain-
GABARAP-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABRA1-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GAL3ST1-
-
-
-
3Gain-
GAL3ST3-
-
-
-
1Loss-
GALE-
-
-
-
5Amp-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT5p.G64E
Missense
SNP
0.422
2--
GALNT8p.E321K
Missense
SNP
0.481
2--
GALNT9-
-
-
-
4Gain-
GALNTL5p.I199L
Missense
SNP
0.307
3Gain-
GALR3-
-
-
-
3Gain-
GAN-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAS2L1-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATC-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCAT-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCN1-
-
-
-
3Gain-
GCNT4-
-
-
-
1Loss-
GCSAMLp.P134S
Missense
SNP
0.659
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDF9-
-
-
-
1Loss-
GDPD4p.H458Y
Missense
SNP
0.329
3Gain-
GDPD5-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFPT2-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GGA1-
-
-
-
3Gain-
GGT1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGT6-
-
-
-
1Loss-
GGTLC2-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GIF-
-
-
-
1Loss-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIN1-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GIT2-
-
-
-
3Gain-
GJA10p.P504S
Missense
SNP
0.520
2--
GJA4-
-
-
-
16Amp-
GJA8p.R76C
Missense
SNP
0.499
2--
GJB3-
-
-
-
16Amp-
GJB4-
-
-
-
16Amp-
GJB5-
-
-
-
16Amp-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1p.R256C
Missense
SNP
0.462
2--
GLE1-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI1p.P1029S
Missense
SNP
0.491
2--
GLIS1-
-
-
-
4Gain-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLT1D1-
-
-
-
4Gain-
GLT6D1p.E67K
Missense
SNP
0.500
2--
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GLTPD2-
-
-
-
1Loss-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMCL2-
-
-
-
1Loss-
GNAO1-
-
-
-
1Loss-
GNAZ-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNG3-
-
-
-
1Loss-
GNG4-
-
-
-
2-FERMT2--GNG4
GNPDA1-
-
-
-
1Loss-
GNPTAB-
-
-
-
3Gain-
GOLGA3-
-
-
-
4Gain-
GON4Lp.L1653F
Missense
SNP
0.500
2--
GOT2-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GPBP1-
-
-
-
1Loss-
GPC5p.P181S
Missense
SNP
0.498
2--
GPHA2-
-
-
-
1Loss-
GPLD1p.P472L
Missense
SNP
1.000
2--
GPN3-
-
-
-
3Gain-
GPR137-
-
-
-
1Loss-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR152-
-
-
-
4Gain-
GPR37-
-
-
-
3Gain-
GPR83-
-
-
-
1Loss-
GPR84-
-
-
-
1Loss-
GPRC6Ap.G629E
p.R222Q
Missense
Missense
SNP
SNP
0.500
0.491
2--
GPRIN1-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
3Gain-
GRAPL-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRIA1-
-
-
-
1Loss-
GRIA4-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRIN2Ap.G1322E
p.P31S
Missense
Missense
SNP
SNP
0.480
0.589
2--
GRK2-
-
-
-
6Amp-
GRK3-
-
-
-
3Gain-
GRK6-
-
-
-
1Loss-
GRM5-
-
-
-
1Loss-
GRM6-
-
-
-
1Loss-
GRM8-
-
-
-
3Gain-
GRPEL2-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSC2-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTP1-
-
-
-
4Gain-
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H3-
-
-
-
3Gain-
GTPBP1-
-
-
-
3Gain-
GTSE1p.S274F
Missense
SNP
0.431
NDND-
GTSF1-
-
-
-
1Loss-
GUCD1-
-
-
-
3Gain-
GUCY1A2-
-
-
-
1Loss-
GUCY2Cp.S186F
Missense
SNP
0.479
2--
GUCY2D-
-
-
-
1Loss-
GVQW3-
-
-
-
3Gain-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H1F0-
-
-
-
3Gain-
H2AFX-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H3F3Cp.E97K
Missense
SNP
0.534
2--
HACE1p.I259N
Missense
SNP
0.877
2--
HAL-
-
-
-
3Gain-
HAND1-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HARBI1-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCRTR1-
-
-
-
3Gain-
HCRTR2p.S125F
Missense
SNP
0.481
2--
HDAC1-
-
-
-
3Gain-
HDAC3-
-
-
-
1Loss-
HDAC7-
-
-
-
3Gain-
HDAC9p.R451Q
Missense
SNP
0.503
2--
HDGFL3-
-
-
-
3GainBTBD1--HDGFL3
HDHD5-
-
-
-
3Gain-
HEATR3-
-
-
-
1Loss-
HECTD4p.A3923T
Missense
SNP
0.705
3Gain-
HELBp.S967F
Missense
SNP
0.451
2--
HEPACAM-
-
-
-
1Loss-
HEPACAM2p.P441S
Missense
SNP
0.535
2--
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HGSNATp.P575L
Missense
SNP
0.489
2--
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
3Gain-
HIGD2A-
-
-
-
1Loss-
HIKESHI-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINFP-
-
-
-
1Loss-
HINT1-
-
-
-
1Loss-
HIP1R-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIRA-
-
-
-
3Gain-
HIVEP1p.H456Y
Missense
SNP
1.000
2--
HIVEP3p.S1222F
Missense
SNP
0.536
2--
HK3-
-
-
-
1Loss-
HMBS-
-
-
-
1Loss-
HMG20A-
-
-
-
1Loss-
HMGB4-
-
-
-
6Amp-
HMGCL-
-
-
-
5Amp-
HMGCR-
-
-
-
1Loss-
HMGN3-
-
-
-
2-HMGN3--ATG5
HMGXB3-
-
-
-
1Loss-
HMGXB4-
-
-
-
3Gain-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX1-
-
-
-
3Gain-
HNF1A-
-
-
-
3Gain-
HNF4Gp.D204N
Missense
SNP
0.459
2--
HNRNPA0-
-
-
-
1Loss-
HNRNPA1-
-
-
-
1Loss-
HNRNPAB-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPKp.P294L
Missense
SNP
0.494
2--
HNRNPR-
-
-
-
3Gain-
HNRNPU-
-
-
-
3Gain-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HORMAD2-
-
-
-
3Gain-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXD10p.A21V
Missense
SNP
0.503
2--
HP-
-
-
-
1Loss-
HPCA-
-
-
-
6Amp-
HPD-
-
-
-
3Gain-
HPR-
-
-
-
1Loss-
HPS4-
-
-
-
3Gain-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRH2-
-
-
-
1Loss-
HRK-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST4p.R332*
Nonsense
SNP
0.514
2--
HSBP1-
-
-
-
1Loss-
HSCB-
-
-
-
3Gain-
HSD11B2-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSP90B1-
-
-
-
3Gain-
HSPA4-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB11-
-
-
-
4Gain-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
1Loss-
HSPB8-
-
-
-
3Gain-
HSPBAP1p.S64L
Missense
SNP
0.509
2--
HTR1A-
-
-
-
1Loss-
HTR1D-
-
-
-
3Gain-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR3Ep.A441T
Missense
SNP
0.482
2--
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HVCN1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
HYKK-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IARSp.P211S
Missense
SNP
0.429
2--
ID3-
-
-
-
5Amp-
IDH3A-
-
-
-
1Loss-
IDO1p.R155C
Missense
SNP
0.477
2--
IFNL3p.G192R
Missense
SNP
0.494
2--
IFT27-
-
-
-
3Gain-
IFT46-
-
-
-
1Loss-
IFT81-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGFN1p.E2205K
Missense
SNP
0.450
2--
IGHDp.G213R
Missense
SNP
0.463
2--
IGHV3-53p.A59V
Missense
SNP
0.371
NDND-
IGIP-
-
-
-
1Loss-
IGKV4-1p.P70S
Missense
SNP
0.505
NDND-
IGKV6D-41p.D21N
Missense
SNP
0.361
NDND-
IGLC7p.P7S
Missense
SNP
0.846
NDND-
IGLL1-
-
-
-
3Gain-
IGLL5-
-
-
-
3Gain-
IGLV10-54-
-
-
-
3Gain-
IGSF1p.G1223R
Missense
SNP
1.000
NDND-
IGSF10p.R1201K
Missense
SNP
0.521
2--
IGSF9B-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKBIP-
-
-
-
3Gain-
IL10RA-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL16-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17RA-
-
-
-
3Gain-
IL18-
-
-
-
1Loss-
IL18RAPp.S419F
Missense
SNP
0.521
2--
IL1F10p.S78F
Missense
SNP
0.480
2--
IL27p.W129*
Nonsense
SNP
0.471
2--
IL2RB-
-
-
-
3Gain-
IL3-
-
-
-
1Loss-
IL31-
-
-
-
3Gain-
IL31RA-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL6ST-
-
-
-
1Loss-
IL9-
-
-
-
1Loss-
IMP3-
-
-
-
1Loss-
IMPDH1-
-
-
-
3Gain-
INCA1-
-
-
-
1Loss-
INCENP-
-
-
-
1Loss-
ING3-
-
-
-
3Gain-
INO80C-
-
-
-
1Loss-
INPP5J-
-
-
-
3Gain-
INPP5K-
-
-
-
1Loss-
INSCp.A32V
Missense
SNP
0.600
2--
INSIG1-
-
-
-
3Gain-
INSYN2B-
-
-
-
1Loss-
INTS4-
-
-
-
3Gain-
INTS5-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IQCA1p.E599K
Missense
SNP
0.462
2--
IQCC-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQGAP2-
-
-
-
1Loss-
IQSEC3p.S1019L
Missense
SNP
0.484
2--
IQUB-
-
-
-
3Gain-
IRAK4-
-
-
-
1Loss-
IREB2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF5-
-
-
-
3Gain-
IRF8-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISCU-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISPDp.S282F
Missense
SNP
0.434
2--
IST1-
-
-
-
1Loss-
ISX-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITGA1p.V241I
Missense
SNP
1.000
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA5-
-
-
-
1Loss-
ITGA7-
-
-
-
1Loss-
ITGA8p.H858Y
Missense
SNP
0.475
2--
ITGAE-
-
-
-
1Loss-
ITGALp.G533D
Missense
SNP
0.465
2--
ITGAMp.E547K
p.P766T
Missense
Missense
SNP
SNP
0.508
0.523
2--
ITGB3p.E511K
Missense
SNP
0.469
2--
ITGBL1p.G377E
Missense
SNP
0.542
2--
ITK-
-
-
-
1Loss-
IVLp.E338K
Missense
SNP
0.466
2--
IZUMO1R-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JOSD1-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JRKL-
-
-
-
1Loss-
JUN-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KAT5-
-
-
-
1Loss-
KAT6Ap.P27L
Missense
SNP
0.465
2--
KATNB1-
-
-
-
1Loss-
KBTBD3-
-
-
-
1Loss-
KBTBD4-
-
-
-
1Loss-
KCNA7p.P252S
Missense
SNP
0.454
2--
KCNAB3-
-
-
-
1Loss-
KCNB1p.R303Q
Missense
SNP
0.573
2--
KCNC4p.E162K
Missense
SNP
0.545
2--
KCND2-
-
-
-
3Gain-
KCNE3-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH2-
-
-
-
3Gain-
KCNH4p.S155F
Missense
SNP
0.428
2--
KCNH8p.S689F
Missense
SNP
0.495
2--
KCNIP1-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ4-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD10-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD14-
-
-
-
3Gain-
KCTD16-
-
-
-
1Loss-
KCTD17-
-
-
-
3Gain-
KCTD19-
-
-
-
1Loss-
KCTD21-
-
-
-
3Gain-
KDELC2-
-
-
-
1Loss-
KDELR3-
-
-
-
3Gain-
KDM1A-
-
-
-
3Gain-
KDM2A-
-
-
-
6Amp-
KDM2B-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KELp.G177E
Missense
SNP
0.352
3Gain-
KERA-
-
-
-
1Loss-
KHDRBS1-
-
-
-
3Gain-
KHDRBS2p.P243L
Missense
SNP
0.470
2--
KIAA0319L-
-
-
-
3Gain-
KIAA0513-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1191-
-
-
-
1Loss-
KIAA1328p.P532L
Missense
SNP
0.449
1Loss-
KIAA1549-
-
-
-
3Gain-
KIAA1551p.S1436R
Missense
SNP
0.454
2--
KIAA1671-
-
-
-
3Gain-
KIF1C-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF26B-
-
-
-
3Gain-
KIF2A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF9p.D548N
Missense
SNP
0.575
2--
KIFC3-
-
-
-
1Loss-
KIR2DL4-
-
-
-
3Gain-
KIR3DL1-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KLF14-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC7Ap.S318F
p.G663R
Missense
Missense
SNP
SNP
0.498
0.518
2--
KLHL13p.G407E
p.M46I
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
KLHL22-
-
-
-
3Gain-
KLHL3-
-
-
-
1Loss-
KLHL33p.S57F
Missense
SNP
0.561
2--
KLHL35-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLK12p.D81N
Missense
SNP
0.381
2--
KLRG2-
-
-
-
3Gain-
KMO-
-
-
-
3Gain-
KMT2A-
-
-
-
1Loss-
KMT2C-
-
-
-
3Gain-
KMT2D-
-
-
-
3Gain-
KMT5A-
-
-
-
3Gain-
KNTC1-
-
-
-
3Gain-
KPNA6-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KREMEN1-
-
-
-
3Gain-
KRIT1p.R423*
Nonsense
SNP
0.430
2--
KRT12p.S23L
Missense
SNP
0.488
2--
KRTAP10-9p.A117T
Missense
SNP
0.469
2--
KRTAP12-4p.S84F
Missense
SNP
0.413
2--
KRTAP24-1p.S64F
Missense
SNP
0.538
2--
KRTAP5-10-
-
-
-
5Amp-
KRTAP5-11-
-
-
-
5Amp-
KRTAP5-7-
-
-
-
5Amp-
KRTAP5-8-
-
-
-
5Amp-
KRTAP5-9-
-
-
-
5Amp-
KRTCAP3p.G124D
Missense
SNP
0.486
2--
KSR2p.S812F
Missense
SNP
0.673
3Gain-
L3MBTL2-
-
-
-
3Gain-
LACRT-
-
-
-
1Loss-
LAMC3p.R1059K
Missense
SNP
0.402
2--
LAMTOR3p.R85C
Missense
SNP
0.557
2--
LAPTM5-
-
-
-
3Gain-
LARGE1-
-
-
-
3Gain-
LARGE2-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LAYN-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCE1Fp.S85F
Missense
SNP
0.531
2--
LCK-
-
-
-
3Gain-
LCP2-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD1-
-
-
-
5Amp-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LEXM-
-
-
-
5Amp-
LGALS1-
-
-
-
3Gain-
LGALS12-
-
-
-
1Loss-
LGALS2-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LHFPL2-
-
-
-
1Loss-
LHX5-
-
-
-
3Gain-
LHX8-
-
-
-
3Gain-
LIF-
-
-
-
3Gain-
LIMK2-
-
-
-
3Gain-
LINGO1-
-
-
-
1Loss-
LIPFp.P358L
Missense
SNP
0.483
2--
LIPIp.E315K
Missense
SNP
0.470
2--
LIPT2-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LLCFC1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LMBR1-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMLNp.S665F
Missense
SNP
0.572
2--
LMNB1-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LOX-
-
-
-
1Loss-
LPAR1p.P83S
Missense
SNP
0.473
2--
LPCAT2-
-
-
-
1Loss-
LPXN-
-
-
-
1Loss-
LRCOL1-
-
-
-
4Gain-
LRFN5p.E511K
Missense
SNP
0.472
2--
LRGUK-
-
-
-
3Gain-
LRIT1p.E508K
p.P258S
Missense
Missense
SNP
SNP
0.449
0.515
2--
LRMPp.D39N
Missense
SNP
0.558
2--
LRP12p.P280S
Missense
SNP
0.535
2--
LRP1Bp.E3468K
Missense
SNP
0.527
2--
LRP2p.E4082K
p.E3752K
Missense
Missense
SNP
SNP
0.532
0.454
2--
LRP4-
-
-
-
1Loss-
LRP5L-
-
-
-
3Gain-
LRP8-
-
-
-
4Gain-
LRRC10B-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC32-
-
-
-
3Gain-
LRRC36-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC42-
-
-
-
4Gain-
LRRC43-
-
-
-
3Gain-
LRRC4C-
-
-
-
3Gain-
LRRC55-
-
-
-
1Loss-
LRRC61-
-
-
-
3Gain-
LRRC70-
-
-
-
1Loss-
LRRC74B-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
3Gain-
LRRK2p.G648R
Missense
SNP
0.455
2--
LRRN4CL-
-
-
-
1Loss-
LRRTM2-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LTA4H-
-
-
-
3Gain-
LTBP3-
-
-
-
1Loss-
LTC4S-
-
-
-
1Loss-
LTFp.G406R
Missense
SNP
0.511
2--
LTO1-
-
-
-
7Amp-
LUC7L2-
-
-
-
3Gain-
LUM-
-
-
-
1Loss-
LUZP1-
-
-
-
3Gain-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LYARp.S128F
Missense
SNP
0.504
2--
LYPD8-
-
-
-
3Gain-
LYPLA2-
-
-
-
5Amp-
LYRM7-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYZp.L12I
Missense
SNP
0.473
2--
LZTR1-
-
-
-
3Gain-
MACROD1-
-
-
-
1Loss-
MADDp.S1620F
Missense
SNP
1.000
1Loss-
MAEAp.P253S
Missense
SNP
0.533
2--
MAF-
-
-
-
1Loss-
MAFF-
-
-
-
3Gain-
MAGEA3p.E235K
Missense
SNP
1.000
NDND-
MAJIN-
-
-
-
1Loss-
MAMDC2p.R451W
Missense
SNP
0.408
2--
MAMDC4p.V411I
Missense
SNP
0.519
2--
MAML1-
-
-
-
1Loss-
MAML2-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3B2-
-
-
-
3Gain-
MAP1LC3C-
-
-
-
3Gain-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K11-
-
-
-
1Loss-
MAP4K2-
-
-
-
1Loss-
MAP6-
-
-
-
1Loss-
MAPK1-
-
-
-
3Gain-
MAPK4p.R586K
Missense
SNP
0.500
2--
MAPK7-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCKSL1-
-
-
-
3Gain-
MARK1p.R612Q
Missense
SNP
0.533
2--
MARK2-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAST4p.P1861S
Missense
SNP
1.000
1Loss-
MAT2B-
-
-
-
1Loss-
MATN1-
-
-
-
3Gain-
MATR3-
-
-
-
1Loss-
MB-
-
-
-
3Gain-
MBLAC2-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCAT-
-
-
-
3Gain-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCHR1-
-
-
-
3Gain-
MCIDAS-
-
-
-
1Loss-
MCM5-
-
-
-
3Gain-
MCTP1-
-
-
-
1Loss-
MDK-
-
-
-
1Loss-
MDN1p.R2942W
Missense
SNP
0.498
2--
ME3-
-
-
-
1Loss-
MECR-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED13L-
-
-
-
3Gain-
MED15-
-
-
-
3Gain-
MED17-
-
-
-
1Loss-
MED19-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEI1-
-
-
-
3Gain-
MEN1p.S38F
Missense
SNP
0.993
1Loss-
MEPEp.H501Y
Missense
SNP
0.511
2--
MESD-
-
-
-
1Loss-
MEST-
-
-
-
3Gain-
METAP2-
-
-
-
3Gain-
METTL16-
-
-
-
1Loss-
METTL2B-
-
-
-
3Gain-
METTL7B-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFN2p.R294*
Nonsense
SNP
0.546
2--
MFNG-
-
-
-
3Gain-
MFRP-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MGAMp.E218K
Missense
SNP
1.000
3Gain-
MGAM2p.E1520K
Missense
SNP
0.647
3Gain-
MGAT1-
-
-
-
1Loss-
MGAT3-
-
-
-
3Gain-
MGAT4B-
-
-
-
1Loss-
MGAT4Cp.E134K
Missense
SNP
0.517
2--
MICAL3-
-
-
-
3Gain-
MICALL1-
-
-
-
3Gain-
MIEF1-
-
-
-
3Gain-
MIEF2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIF-
-
-
-
3GainMIF--ACTB
MINK1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MKL1p.L377F
Missense
SNP
0.340
NDND-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MLEC-
-
-
-
3Gain-
MLKL-
-
-
-
1Loss-
MLXIP-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMAB-
-
-
-
3Gain-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP11-
-
-
-
3Gain-
MMP12-
-
-
-
1Loss-
MMP13p.D235N
Missense
SNP
1.000
1Loss-
MMP15-
-
-
-
1Loss-
MMP17-
-
-
-
4Gain-
MMP2-
-
-
-
1Loss-
MMP20-
-
-
-
1Loss-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MN1-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOGAT2-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MORC1p.E700K
Missense
SNP
0.569
2--
MORC2-
-
-
-
3Gain-
MORF4L1-
-
-
-
1Loss-
MORN3p.G196E
Missense
SNP
0.582
3Gain-
MPDU1-
-
-
-
1Loss-
MPEG1-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
3Gain-
MPI-
-
-
-
1Loss-
MPP7p.R296K
Missense
SNP
0.521
2--
MPPED1-
-
-
-
3Gain-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRE11-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MROH7-
-
-
-
5Amp-
MROH7-TTC4-
-
-
-
5Amp-
MRPL16-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL37-
-
-
-
5Amp-
MRPL40-
-
-
-
3Gain-
MRPL42p.P80S
Missense
SNP
1.000
1Loss-
MRPL49-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS33-
-
-
-
3Gain-
MRPS36-
-
-
-
1Loss-
MRTFA-
-
-
-
3Gain-
MS4A1-
-
-
-
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14p.S545F
Missense
SNP
1.000
1Loss-
MS4A15-
-
-
-
1Loss-
MS4A18-
-
-
-
1Loss-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4A-
-
-
-
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
1Loss-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
1Loss-
MS4A7-
-
-
-
1Loss-
MS4A8-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSH4-
-
-
-
3Gain-
MSI1-
-
-
-
3Gain-
MSX2-
-
-
-
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-
MTCH2-
-
-
-
1Loss-
MTERF2-
-
-
-
3Gain-
MTFP1-
-
-
-
3Gain-
MTHFS-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTMR2-
-
-
-
1Loss-
MTMR3-
-
-
-
3Gain-
MTNR1B-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTREX-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MTX3-
-
-
-
1Loss-
MUC12p.E4960K
Missense
SNP
0.555
2--
MUC16p.D8251N
p.D7516N
p.E6716*
p.E3873K
p.S2431F
p.E1804K
Missense
Missense
Nonsense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
0.492
0.470
0.469
0.542
0.422
0.498
2--
MUC5Bp.E1464K
Missense
SNP
0.472
2--
MUCL1-
-
-
-
1Loss-
MUS81-
-
-
-
1Loss-
MUSKp.E613K
p.M713I
Missense
Missense
SNP
SNP
0.464
0.474
2--
MVD-
-
-
-
1Loss-
MVK-
-
-
-
3Gain-
MXD3-
-
-
-
1Loss-
MXRA5p.D2583N
p.S2287F
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
MYBBP1A-
-
-
-
1Loss-
MYBPC1p.G404E
Missense
SNP
0.333
3Gain-
MYBPC3-
-
-
-
1Loss-
MYEOV-
-
-
-
7Amp-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYLKp.A1300V
Missense
SNP
0.494
2--
MYLK3-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO18B-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO1H-
-
-
-
3Gain-
MYO7A-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOM1p.S1605L
Missense
SNP
0.528
2--
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYSM1-
-
-
-
3Gain-
MZB1-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA25-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NADSYN1-
-
-
-
5Amp-
NAE1-
-
-
-
1Loss-
NAGA-
-
-
-
3Gain-
NAIP-
-
-
-
1Loss-
NARS2-
-
-
-
3Gain-
NATD1-
-
-
-
1Loss-
NAV2p.P1130S
Missense
SNP
0.529
2--
NCAM1-
-
-
-
1Loss-
NCAM2p.S515F
Missense
SNP
0.490
2--
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCDN-
-
-
-
3Gain-
NCF4-
-
-
-
3Gain-
NCKAP1L-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCOR2-
-
-
-
4Gain-
NDC1-
-
-
-
4Gain-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDRG4-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDUFA12-
-
-
-
3Gain-
NDUFA2-
-
-
-
1Loss-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
3Gain-
NDUFAF2-
-
-
-
1Loss-
NDUFB2-
-
-
-
3Gain-
NDUFC2-
-
-
-
3Gain-
NDUFC2-KCTD14-
-
-
-
3Gain-
NDUFS3-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NEBp.M1688I
Missense
SNP
0.519
2--
NECAB2p.G158E
Missense
SNP
1.000
1Loss-
NECTIN1-
-
-
-
1Loss-
NEDD1-
-
-
-
3Gain-
NEFH-
-
-
-
3Gain-
NEIL1-
-
-
-
1Loss-
NELL1p.W177*
p.R732*
Nonsense
Nonsense
SNP
SNP
0.548
0.481
2--
NELL2-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NEUROD4-
-
-
-
1Loss-
NEUROG1-
-
-
-
1Loss-
NF1p.R2450*
Nonsense
SNP
0.571
2--
NF2-
-
-
-
3Gain-
NFAM1-
-
-
-
3Gain-
NFASCp.R77Q
Missense
SNP
0.472
2--
NFAT5-
-
-
-
1Loss-
NFATC1p.P762S
Missense
SNP
0.427
2--
NFATC3-
-
-
-
1Loss-
NFE2-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NFYB-
-
-
-
3Gain-
NHP2-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
3Gain-
NKAIN1-
-
-
-
3Gain-
NKAPD1-
-
-
-
1Loss-
NKD1-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRC5-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10p.P354S
Missense
SNP
0.472
2--
NLRP11p.G527E
Missense
SNP
0.533
2--
NLRP12p.Q596*
Nonsense
SNP
0.484
2--
NLRP13p.G960E
Missense
SNP
0.482
2--
NLRP2p.P993S
Missense
SNP
0.453
2--
NLRP3-
-
-
-
3Gain-
NLRP5p.S191L
Missense
SNP
0.490
2--
NLRX1-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NME8p.E96K
Missense
SNP
0.419
2--
NMUR2-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOC4L-
-
-
-
4Gain-
NOD2-
-
-
-
1Loss-
NOL12-
-
-
-
3Gain-
NOL3-
-
-
-
1Loss-
NOM1-
-
-
-
3Gain-
NOP16-
-
-
-
1Loss-
NOS1-
-
-
-
3Gain-
NOS2p.T432I
Missense
SNP
0.456
2--
NOS3-
-
-
-
3Gain-
NOTCH2p.P1233S
Missense
SNP
0.476
2--
NOTCH3p.D1122N
Missense
SNP
0.429
2--
NOX4-
-
-
-
1Loss-
NPAP1p.D173N
p.G894E
Missense
Missense
SNP
SNP
0.494
0.478
2--
NPAS4p.G252R
Missense
SNP
0.528
2--
NPAT-
-
-
-
1Loss-
NPC1p.E43K
Missense
SNP
0.495
2--
NPIPB15-
-
-
-
1Loss-
NPM1-
-
-
-
1Loss-
NPTXR-
-
-
-
3Gain-
NQO1-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR1H4-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2F1-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NRAPp.S804F
Missense
SNP
0.418
2--
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG2-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NRXN2-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NT5DC3-
-
-
-
3Gain-
NT5M-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTN4-
-
-
-
3Gain-
NTNG1p.E503K
Missense
SNP
0.543
2--
NTNG2p.S126L
Missense
SNP
0.469
2--
NUB1-
-
-
-
3Gain-
NUDCD2-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT22-
-
-
-
1Loss-
NUDT4-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUP153p.S1178L
Missense
SNP
1.000
2--
NUP160-
-
-
-
1Loss-
NUP188p.P830S
Missense
SNP
0.522
2--
NUP205-
-
-
-
3Gain-
NUP210p.S1375F
Missense
SNP
0.440
2--
NUP210Lp.P973L
Missense
SNP
0.483
2--
NUP37-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NUTM1p.G288E
Missense
SNP
0.524
2--
NXF1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NYAP1p.P373S
Missense
SNP
0.461
2--
OAF-
-
-
-
1Loss-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OBSCNp.D4588N
Missense
SNP
0.533
2--
OCLN-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGFOD1-
-
-
-
1Loss-
OGFOD2-
-
-
-
3Gain-
OMA1-
-
-
-
3Gain-
OMP-
-
-
-
3Gain-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OR10A7-
-
-
-
1Loss-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10J5p.V304G
Missense
SNP
0.500
2--
OR10K2p.P229S
Missense
SNP
0.450
2--
OR10P1-
-
-
-
1Loss-
OR10Q1-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR10V1-
-
-
-
1Loss-
OR11L1-
-
-
-
3Gain-
OR13C8p.S148F
Missense
SNP
0.505
2--
OR13F1p.R234Q
Missense
SNP
0.500
2--
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1C1-
-
-
-
3Gain-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1L8p.T247I
Missense
SNP
0.533
2--
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2AP1-
-
-
-
1Loss-
OR2AT4-
-
-
-
1Loss-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2p.E55K
Missense
SNP
0.636
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1p.Q139*
Nonsense
SNP
0.337
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W3p.S77F
Missense
SNP
0.627
3Gain-
OR2Y1-
-
-
-
1Loss-
OR2Z1p.L46F
Missense
SNP
0.494
2--
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47p.S240F
Missense
SNP
1.000
1Loss-
OR4A5-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C3p.N235S
Missense
SNP
1.000
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4C6-
-
-
-
1Loss-
OR4D5-
-
-
-
1Loss-
OR4P4-
-
-
-
1Loss-
OR4S1-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2p.D185N
Missense
SNP
0.409
2--
OR51F1p.P27S
Missense
SNP
0.413
2--
OR51G2p.L164*
Nonsense
SNP
0.504
2--
OR51S1p.R194C
Missense
SNP
0.482
2--
OR52K1p.P3S
Missense
SNP
0.532
2--
OR52M1p.P257S
Missense
SNP
0.497
2--
OR5AK2-
-
-
-
3Gain-
OR5AN1-
-
-
-
1Loss-
OR5AP2-
-
-
-
3Gain-
OR5AR1-
-
-
-
3Gain-
OR5AS1-
-
-
-
1Loss-
OR5B12-
-
-
-
1Loss-
OR5B2-
-
-
-
1Loss-
OR5B21-
-
-
-
1Loss-
OR5B3-
-
-
-
1Loss-
OR5D13-
-
-
-
1Loss-
OR5D14-
-
-
-
1Loss-
OR5D16-
-
-
-
1Loss-
OR5D18p.D307N
Missense
SNP
1.000
1Loss-
OR5F1-
-
-
-
1Loss-
OR5I1-
-
-
-
1Loss-
OR5J2-
-
-
-
1Loss-
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5M1-
-
-
-
3Gain-
OR5M10-
-
-
-
3Gain-
OR5M11-
-
-
-
3Gain-
OR5M3-
-
-
-
1Loss-
OR5M8-
-
-
-
1Loss-
OR5M9-
-
-
-
1Loss-
OR5P2p.D176N
Missense
SNP
0.447
2--
OR5R1-
-
-
-
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5W2-
-
-
-
1Loss-
OR6B1-
-
-
-
3Gain-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6F1-
-
-
-
3Gain-
OR6M1-
-
-
-
1Loss-
OR6Q1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1p.H176Y
Missense
SNP
1.000
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8H1-
-
-
-
1Loss-
OR8H2-
-
-
-
1Loss-
OR8H3-
-
-
-
1Loss-
OR8I2-
-
-
-
1Loss-
OR8J1-
-
-
-
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K1-
-
-
-
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8U1-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9G1-
-
-
-
3Gain-
OR9G4-
-
-
-
3Gain-
OR9I1-
-
-
-
1Loss-
OR9K2-
-
-
-
1Loss-
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORAI1-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
OSBP2-
-
-
-
3Gain-
OSGIN1-
-
-
-
1Loss-
OSM-
-
-
-
3Gain-
OTOL1p.S476L
Missense
SNP
0.384
2--
OTP-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVOL1-
-
-
-
1Loss-
OXA1Lp.P58S
Missense
SNP
0.479
2--
OXCT2-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX2-
-
-
-
4Gain-
P2RX3-
-
-
-
1Loss-
P2RX4-
-
-
-
3Gain-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P4HA2-
-
-
-
1Loss-
P4HA3-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACS1-
-
-
-
1Loss-
PACSIN2-
-
-
-
3Gain-
PACSIN3-
-
-
-
1Loss-
PADI2p.E611K
Missense
SNP
0.497
2--
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAH-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAIP2Bp.E26K
Missense
SNP
0.541
2--
PAK1-
-
-
-
3Gain-
PALLDp.R686Q
Missense
SNP
0.508
2--
PAM-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PANX1-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARK2p.E207K
Missense
SNP
0.514
NDND-
PARP12-
-
-
-
3Gain-
PARP8-
-
-
-
1Loss-
PARPBP-
-
-
-
3Gain-
PARS2-
-
-
-
5Amp-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATZ1-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX8p.P296L
Missense
SNP
0.519
2--
PAXIP1-
-
-
-
3Gain-
PCBD2-
-
-
-
1Loss-
PCBP3p.G258E
p.Q354*
Missense
Nonsense
SNP
SNP
0.504
0.433
2--
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11p.G745E
Missense
SNP
1.000
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10p.G42E
Missense
SNP
1.000
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6p.E291K
Missense
SNP
1.000
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8p.E242K
Missense
SNP
0.184
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCED1B-
-
-
-
3Gain-
PCF11-
-
-
-
1Loss-
PCLOp.P4637S
p.S4204L
p.E3838K
Missense
Missense
Missense
SNP
SNP
SNP
0.493
0.509
0.459
2--
PCMTD1p.S89N
Missense
SNP
0.533
2--
PCNX2p.E1674K
Missense
SNP
0.467
2--
PCNX3-
-
-
-
1Loss-
PCSK1-
-
-
-
1Loss-
PCSK5p.E1417K
Missense
SNP
0.543
2--
PCSK7-
-
-
-
1Loss-
PCSK9-
-
-
-
5Amp-
PCYOX1L-
-
-
-
1Loss-
PDE1B-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE7Bp.R255*
Nonsense
SNP
0.502
2--
PDE8B-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFB-
-
-
-
3Gain-
PDGFD-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDLIM4-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDXP-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PEAK1-
-
-
-
1Loss-
PEBP1-
-
-
-
3Gain-
PEF1-
-
-
-
3Gain-
PEG3p.S1192F
Missense
SNP
0.453
2--
PELO-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PES1-
-
-
-
3Gain-
PEX16-
-
-
-
1Loss-
PEX26-
-
-
-
3Gain-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PFN3-
-
-
-
1Loss-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGAM5-
-
-
-
4Gain-
PGBD2-
-
-
-
3Gain-
PGGT1B-
-
-
-
1Loss-
PGLYRP4p.P49S
Missense
SNP
0.524
2--
PGM2L1p.W414*
Nonsense
SNP
0.711
1Loss-
PGR-
-
-
-
1Loss-
PHACTR2p.P54S
Missense
SNP
0.477
2--
PHACTR3p.K357N
Missense
SNP
0.424
2--
PHAX-
-
-
-
1Loss-
PHC2-
-
-
-
6Amp-
PHETA1-
-
-
-
3Gain-
PHETA2-
-
-
-
3Gain-
PHF21A-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF5A-
-
-
-
3Gain-
PHKB-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI4KA-
-
-
-
3Gain-
PICALM-
-
-
-
1Loss-
PICK1-
-
-
-
3Gain-
PIEZO1-
-
-
-
1Loss-
PIEZO2p.R1083Q
Missense
SNP
0.554
2--
PIGL-
-
-
-
1Loss-
PIH1D2-
-
-
-
1Loss-
PIK3C2Gp.S870F
Missense
SNP
0.489
2--
PIK3CGp.W355*
Nonsense
SNP
0.471
2--
PIK3IP1-
-
-
-
3Gain-
PIK3R1-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
3Gain-
PITHD1-
-
-
-
5Amp-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
3Gain-
PITPNM1p.E401Q
Missense
SNP
0.170
4Gain-
PITPNM2-
-
-
-
3Gain-
PITPNM3-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PIWIL1-
-
-
-
4Gain-
PIWIL3-
-
-
-
3Gain-
PIWIL4-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKDREJp.S1306L
Missense
SNP
0.525
NDND-
PKHD1L1p.G2188E
Missense
SNP
0.449
2--
PKNOX2-
-
-
-
1Loss-
PKP2p.R395C
Missense
SNP
0.496
2--
PLA1Ap.R204L
Missense
SNP
0.525
2--
PLA2G15-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G1B-
-
-
-
3Gain-
PLA2G2Cp.S13L
Missense
SNP
0.493
2--
PLA2G3-
-
-
-
3Gain-
PLA2G6-
-
-
-
3Gain-
PLAC8L1-
-
-
-
1Loss-
PLBD2-
-
-
-
3Gain-
PLCB3-
-
-
-
1Loss-
PLCB4p.G663E
p.L842F
Missense
Missense
SNP
SNP
0.490
0.357
2--
PLCG2-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLEKHA6p.P199S
Missense
SNP
0.429
2--
PLEKHG4-
-
-
-
1Loss-
PLEKHG7-
-
-
-
1Loss-
PLET1-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLLP-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPP3-
-
-
-
5Amp-
PLSCR3-
-
-
-
1Loss-
PLXNA4-
-
-
-
3Gain-
PLXNC1-
-
-
-
1Loss-
PMCH-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMM1-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMS2p.S769F
Missense
SNP
0.425
2--
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
PNRC2-
-
-
-
5Amp-
POC5-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
POLA2-
-
-
-
1Loss-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
4Gain-
POLDIP3-
-
-
-
3Gain-
POLE-
-
-
-
4Gain-
POLK-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2C-
-
-
-
1Loss-
POLR2F-
-
-
-
3Gain-
POLR2G-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POLR3H-
-
-
-
3Gain-
PON3p.G218E
Missense
SNP
0.455
2--
POP5-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPFIA1-
-
-
-
7Amp-
PPHLN1-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPIL1p.P164L
Missense
SNP
1.000
2--
PPIL2-
-
-
-
3Gain-
PPIP5K2-
-
-
-
1Loss-
PPM1F-
-
-
-
3Gain-
PPME1-
-
-
-
1Loss-
PPP1CA-
-
-
-
4Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R14B-
-
-
-
1Loss-
PPP1R1A-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R32-
-
-
-
1Loss-
PPP1R9Ap.G1300E
Missense
SNP
0.496
2--
PPP2CA-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R5B-
-
-
-
1Loss-
PPTC7-
-
-
-
3Gain-
PPWD1-
-
-
-
1Loss-
PRAME-
-
-
-
3Gain-
PRB2p.G199R
Missense
SNP
0.378
2--
PRCP-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM16p.E267K
Missense
SNP
0.485
2--
PRDM4-
-
-
-
3Gain-
PRDM6-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX5-
-
-
-
1Loss-
PRELID1-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PREX2p.E213K
p.D1422N
Missense
Missense
SNP
SNP
0.480
0.462
2--
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRICKLE1-
-
-
-
1Loss-
PRKAA2-
-
-
-
5Amp-
PRKAB1-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRMT3p.T439I
Missense
SNP
0.492
2--
PRMT7-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PRODH-
-
-
-
3Gain-
PROP1-
-
-
-
1Loss-
PRPF19-
-
-
-
1Loss-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR12p.P1437L
Missense
SNP
0.442
2--
PRR14L-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR5Lp.P220S
Missense
SNP
0.446
2--
PRR7-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRC2Ap.P721S
Missense
SNP
1.000
2--
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS23-
-
-
-
1Loss-
PRSS35p.R323W
Missense
SNP
0.449
2--
PRSS37-
-
-
-
3Gain-
PRSS54-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRTGp.R796*
Nonsense
SNP
0.458
2--
PRUNE2p.S1104F
Missense
SNP
0.445
2--
PSD2-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSKH2p.E22K
Missense
SNP
0.525
2--
PSMA4-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMB2-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PSMD9-
-
-
-
3Gain-
PSTPIP1-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTGDR2-
-
-
-
1Loss-
PTHLHp.S174L
p.H45Y
Missense
Missense
SNP
SNP
0.449
0.511
2--
PTN-
-
-
-
3Gain-
PTP4A2-
-
-
-
3Gain-
PTPMT1-
-
-
-
1Loss-
PTPN11-
-
-
-
3Gain-
PTPN9-
-
-
-
1Loss-
PTPRCp.E1013K
Missense
SNP
0.530
2--
PTPRCAP-
-
-
-
4Gain-
PTPRDp.R1088C
Missense
SNP
0.470
2--
PTPRJ-
-
-
-
1Loss-
PTPRKp.G1313E
p.S1085F
Missense
Missense
SNP
SNP
0.500
0.432
2--
PTPRN2-
-
-
-
3Gain-
PTPROp.G102E
Missense
SNP
0.477
2--
PTPRQp.G1845S
Missense
SNP
0.528
2--
PTPRTp.E1197K
Missense
SNP
0.491
2--
PTPRU-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PUM1-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PUS1-
-
-
-
4Gain-
PUS3-
-
-
-
1Loss-
PUS7L-
-
-
-
1Loss-
PVALB-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PWWP2A-
-
-
-
1Loss-
PXMP2-
-
-
-
4Gain-
PXN-
-
-
-
3Gain-
PYGM-
-
-
-
1Loss-
QRICH2p.P128S
Missense
SNP
0.547
2--
R3HDM4p.S202F
Missense
SNP
0.495
2--
RAB19-
-
-
-
3Gain-
RAB24-
-
-
-
1Loss-
RAB30-
-
-
-
1Loss-
RAB35-
-
-
-
3Gain-
RAB36-
-
-
-
3Gain-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3IL1-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABGGTB-
-
-
-
3Gain-
RAC2-
-
-
-
3Gain-
RACK1-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD50-
-
-
-
1Loss-
RAD9A-
-
-
-
4Gain-
RAD9B-
-
-
-
3Gain-
RAI1-
-
-
-
1Loss-
RAN-
-
-
-
4Gain-
RANBP1-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANGAP1-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAPGEF3-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RAPSN-
-
-
-
1Loss-
RARRES2-
-
-
-
3Gain-
RARRES3-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASAL1-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
3Gain-
RASGEF1C-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP2-
-
-
-
1Loss-
RASL10A-
-
-
-
3Gain-
RBFOX2-
-
-
-
3Gain-
RBL2-
-
-
-
1Loss-
RBM19-
-
-
-
3Gain-
RBM22-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM7-
-
-
-
1Loss-
RBX1-
-
-
-
3Gain-
RCN2-
-
-
-
1Loss-
RCOR2-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
RDX-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
RELA-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
REPIN1-
-
-
-
3Gain-
REXO2-
-
-
-
1Loss-
RFC5-
-
-
-
3Gain-
RFESD-
-
-
-
1Loss-
RFLNA-
-
-
-
4Gain-
RFLNB-
-
-
-
1Loss-
RFPL1-
-
-
-
3Gain-
RFPL2-
-
-
-
3Gain-
RFPL3-
-
-
-
3Gain-
RFWD3-
-
-
-
1Loss-
RGL4-
-
-
-
3Gain-
RGMB-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS14-
-
-
-
1Loss-
RGS7p.R44C
Missense
SNP
0.659
3Gain-
RGS7BP-
-
-
-
1Loss-
RGSL1p.E831K
Missense
SNP
0.481
2--
RHBDD3-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEBL1-
-
-
-
3Gain-
RHOBTB3-
-
-
-
1Loss-
RHOD-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RIC8B-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
4Gain-
RIOK2-
-
-
-
1Loss-
RIPOR1-
-
-
-
1Loss-
RITA1-
-
-
-
3Gain-
RMND5B-
-
-
-
1Loss-
RNASEH2C-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNF10-
-
-
-
3Gain-
RNF112-
-
-
-
1Loss-
RNF130-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF14-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF152p.P95S
Missense
SNP
0.518
2--
RNF166-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF169-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF185-
-
-
-
3Gain-
RNF19B-
-
-
-
6Amp-
RNF214-
-
-
-
1Loss-
RNF215-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
3Gain-
RNF44-
-
-
-
1Loss-
RNFT2-
-
-
-
3Gain-
ROBO1p.R1237Q
Missense
SNP
0.505
2--
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
RP1p.E1568K
Missense
SNP
0.475
2--
RP11-108K14.8p.S167F
Missense
SNP
0.514
NDND-
RP5-862P8.2p.D509N
Missense
SNP
0.505
NDND-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPAP2p.P421S
Missense
SNP
0.498
2--
RPAP3-
-
-
-
3Gain-
RPE65p.R44Q
Missense
SNP
0.440
2--
RPGRIP1p.S1065F
Missense
SNP
0.421
2--
RPGRIP1L-
-
-
-
1Loss-
RPH3A-
-
-
-
3Gain-
RPH3AL-
-
-
-
1Loss-
RPL11-
-
-
-
5Amp-
RPL13-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL3-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPP25-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS19BP1-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS3-
-
-
-
1Loss-
RPS6KA4-
-
-
-
1Loss-
RPS6KB2-
-
-
-
4Gain-
RPUSD4-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRP7A-
-
-
-
3Gain-
RSF1-
-
-
-
3Gain-
RSPH14-
-
-
-
3Gain-
RSPO2p.R64Q
Missense
SNP
0.478
2--
RSPRY1-
-
-
-
1Loss-
RSRC2-
-
-
-
3Gain-
RSRP1p.P108S
Missense
SNP
0.504
2--
RTCB-
-
-
-
3Gain-
RTL10-
-
-
-
3Gain-
RTN3-
-
-
-
1Loss-
RTN4R-
-
-
-
3Gain-
RTN4RL1-
-
-
-
1Loss-
RTN4RL2-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RUFY4p.G384E
Missense
SNP
0.564
2--
RYR2p.E1472K
Missense
SNP
0.500
2--
S100PBP-
-
-
-
6Amp-
S100Z-
-
-
-
1Loss-
SAC3D1-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SAMM50-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SART1-
-
-
-
1Loss-
SART3-
-
-
-
3Gain-
SAT2-
-
-
-
1Loss-
SBNO1-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAF11-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAPER-
-
-
-
1Loss-
SCARB1-
-
-
-
4Gain-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
3Gain-
SCCPDH-
-
-
-
3Gain-
SCELp.G13E
Missense
SNP
0.594
2--
SCGB1A1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCML2p.P373S
Missense
SNP
1.000
NDND-
SCN10Ap.P977S
Missense
SNP
0.482
2--
SCN11Ap.G1115R
Missense
SNP
0.523
2--
SCN2Ap.R217Q
p.E443K
Missense
Missense
SNP
SNP
0.455
0.486
2--
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCN5Ap.E1025K
Missense
SNP
0.465
2--
SCO1-
-
-
-
1Loss-
SCUBE1-
-
-
-
3Gain-
SCYL1-
-
-
-
1Loss-
SCYL2-
-
-
-
3Gain-
SDC3-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDHAF2-
-
-
-
1Loss-
SDHD-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEC11Ap.L4V
Missense
SNP
1.000
2--
SEC14L2-
-
-
-
3Gain-
SEC14L3-
-
-
-
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L6-
-
-
-
3Gain-
SEC23Bp.L552F
Missense
SNP
0.623
2--
SEC24A-
-
-
-
1Loss-
SELENOH-
-
-
-
1Loss-
SELENOM-
-
-
-
3Gain-
SELPLG-
-
-
-
3Gain-
SEMA3Ap.R730Q
Missense
SNP
0.474
2--
SEMA6A-
-
-
-
1Loss-
SEMA6Cp.A302V
Missense
SNP
0.552
2--
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SEPN1p.R189*
Nonsense
SNP
0.460
NDND-
SEPT3-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERHL2-
-
-
-
3Gain-
SERINC2-
-
-
-
3Gain-
SERINC5-
-
-
-
1Loss-
SERPINA5p.V225L
Missense
SNP
0.468
2--
SERPINB12p.S64F
Missense
SNP
0.511
2--
SERPIND1-
-
-
-
3Gain-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SESN3-
-
-
-
1Loss-
SETD1B-
-
-
-
3Gain-
SETD6-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SEZ6L-
-
-
-
3Gain-
SF1-
-
-
-
1Loss-
SF3A1-
-
-
-
3Gain-
SF3B2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SFI1-
-
-
-
3Gain-
SFPQ-
-
-
-
10Amp-
SFSWAP-
-
-
-
4Gain-
SFXN1-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGSM1-
-
-
-
3Gain-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
3Gain-
SGTB-
-
-
-
1Loss-
SH2B3-
-
-
-
3Gain-
SH2D7-
-
-
-
1Loss-
SH3BP1-
-
-
-
3Gain-
SH3BP5L-
-
-
-
3Gain-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHANK2-
-
-
-
10Amp-
SHBG-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
3Gain-
SHISAL2B-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SHROOM4p.S205F
Missense
SNP
1.000
NDND-
SIAE-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIDT2-
-
-
-
1Loss-
SIGLEC14p.G290E
Missense
SNP
0.562
2--
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIPA1-
-
-
-
1Loss-
SIRPDp.S157F
Missense
SNP
0.509
2--
SIRT4-
-
-
-
3Gain-
SKP1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC15A2p.S59F
p.E403K
Missense
Missense
SNP
SNP
0.501
0.519
2--
SLC15A3-
-
-
-
1Loss-
SLC15A4-
-
-
-
4Gain-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A8-
-
-
-
3Gain-
SLC17A6p.G12E
Missense
SNP
0.423
2--
SLC17A7p.R552K
Missense
SNP
0.582
2--
SLC17A8p.X158_splice
Splice_Site
SNP
0.352
3Gain-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC25A1-
-
-
-
3Gain-
SLC25A11-
-
-
-
1Loss-
SLC25A17-
-
-
-
3Gain-
SLC25A18-
-
-
-
3Gain-
SLC25A2-
-
-
-
1Loss-
SLC25A3-
-
-
-
3Gain-
SLC25A35-
-
-
-
1Loss-
SLC25A45-
-
-
-
1Loss-
SLC25A46-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A7p.R253K
Missense
SNP
0.466
2--
SLC27A6-
-
-
-
1Loss-
SLC2A11-
-
-
-
3Gain-
SLC2A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC34A1-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35B4-
-
-
-
3Gain-
SLC35C1-
-
-
-
1Loss-
SLC35E4-
-
-
-
3Gain-
SLC35F2-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC37A4-
-
-
-
1Loss-
SLC38A1-
-
-
-
1Loss-
SLC38A2-
-
-
-
3Gain-
SLC38A4p.G227E
Missense
SNP
0.394
3Gain-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A13-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC41A2-
-
-
-
3Gain-
SLC43A1-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A5-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC48A1-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A9-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC5A1-
-
-
-
3Gain-
SLC5A10-
-
-
-
1Loss-
SLC5A4-
-
-
-
3Gain-
SLC5A8-
-
-
-
3Gain-
SLC6A13p.G261E
Missense
SNP
0.507
2--
SLC6A2-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC7A4-
-
-
-
3Gain-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC8B1-
-
-
-
3Gain-
SLC9A5-
-
-
-
1Loss-
SLCO2B1-
-
-
-
1Loss-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLFN12p.L290F
Missense
SNP
0.462
2--
SLIT3-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMARCB1-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMCO4-
-
-
-
1Loss-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
3Gain-
SMG6-
-
-
-
1Loss-
SMIM12-
-
-
-
16Amp-
SMIM15-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMKR1-
-
-
-
3Gain-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMPD3-
-
-
-
1Loss-
SMTN-
-
-
-
3Gain-
SMTNL1-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMUG1p.P240S
Missense
SNP
1.000
1Loss-
SMYD3-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI3-
-
-
-
1Loss-
SNAP29-
-
-
-
3Gain-
SNCAIP-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNRNP35-
-
-
-
3Gain-
SNRNP40-
-
-
-
3Gain-
SNRPD3-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SNTB2-
-
-
-
1Loss-
SNU13-
-
-
-
3Gain-
SNUPN-
-
-
-
1Loss-
SNX15-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX32-
-
-
-
1Loss-
SNX33-
-
-
-
1Loss-
SOCS2-
-
-
-
1Loss-
SOCS5p.R267*
Nonsense
SNP
0.491
2--
SORCS3p.P558S
Missense
SNP
0.474
2--
SORL1-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOX10-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SP140p.E534K
Missense
SNP
0.536
2--
SPA17-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPATA18p.S85F
Missense
SNP
0.516
2--
SPATA19-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA7p.S456N
Missense
SNP
0.507
2--
SPATA9-
-
-
-
1Loss-
SPATS2-
-
-
-
3Gain-
SPCS2-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYC-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPECC1Lp.E436K
Missense
SNP
0.347
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF2p.R387*
Nonsense
SNP
0.465
2--
SPEGp.R1593*
Nonsense
SNP
0.446
2--
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHKAPp.P529S
Missense
SNP
0.444
2--
SPI1-
-
-
-
1Loss-
SPIC-
-
-
-
3Gain-
SPINDOC-
-
-
-
1Loss-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPOCD1-
-
-
-
3Gain-
SPOCK1-
-
-
-
1Loss-
SPPL3-
-
-
-
3Gain-
SPRR3p.P142S
Missense
SNP
0.536
2--
SPRY4-
-
-
-
1Loss-
SPTAN1-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQRDLp.R222Q
Missense
SNP
0.658
NDND-
SQSTM1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRD5A2-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREBF2p.T334I
Missense
SNP
0.615
3Gain-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
3Gain-
SRRM1p.P335S
Missense
SNP
0.387
2--
SRRM4-
-
-
-
3Gain-
SRSF10-
-
-
-
5Amp-
SRSF4-
-
-
-
3Gain-
SRSF7p.R172K
Missense
SNP
0.457
2--
SRSF8-
-
-
-
1Loss-
SRSF9-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
1Loss-
SSBP3-
-
-
-
5Amp-
SSH1-
-
-
-
3Gain-
SSH3-
-
-
-
4Gain-
SSMEM1-
-
-
-
3Gain-
SSPOp.S2599F
Missense
SNP
0.682
3Gain-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SSTR3-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
ST13-
-
-
-
3Gain-
ST14-
-
-
-
1Loss-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5p.S279L
Missense
SNP
0.502
2--
STAB2-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STEAP1Bp.S244F
Missense
SNP
0.495
2--
STIP1-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK31p.G789E
Missense
SNP
0.505
2--
STK32A-
-
-
-
1Loss-
STMP1-
-
-
-
3Gain-
STPG2p.P291S
Missense
SNP
0.331
2--
STRA8-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STT3A-
-
-
-
1Loss-
STX2-
-
-
-
4Gain-
STX3-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP5Lp.Q624*
Nonsense
SNP
0.468
2--
SUDS3-
-
-
-
3Gain-
SULT1E1p.E211K
Missense
SNP
0.506
2--
SULT4A1-
-
-
-
3Gain-
SUN2-
-
-
-
3Gain-
SUSD2-
-
-
-
3Gain-
SUSD4p.G150R
Missense
SNP
0.458
2--
SV2C-
-
-
-
1Loss-
SVEP1p.P1786S
p.G1282E
Missense
Missense
SNP
SNP
0.562
0.497
2--
SVOP-
-
-
-
3Gain-
SVOPL-
-
-
-
3Gain-
SYCE1L-
-
-
-
1Loss-
SYCP3-
-
-
-
3Gain-
SYF2p.R137W
Missense
SNP
0.449
2--
SYN3-
-
-
-
3Gain-
SYNE1p.G7008C
p.S1776F
Missense
Missense
SNP
SNP
0.514
0.474
2--
SYNE3p.P292S
Missense
SNP
0.449
2--
SYNGR1-
-
-
-
3Gain-
SYNPO-
-
-
-
1Loss-
SYT12-
-
-
-
3Gain-
SYT13-
-
-
-
1Loss-
SYT7-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
SYTL4p.E638D
Missense
SNP
1.000
NDND-
SYTL5p.W661*
Nonsense
SNP
1.000
NDND-
SYVN1-
-
-
-
1Loss-
Tp.G245R
Missense
SNP
0.492
NDND-
TAB1-
-
-
-
3Gain-
TACC2p.E2281K
Missense
SNP
0.484
2--
TACSTD2-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF6L-
-
-
-
1Loss-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TANGO2-
-
-
-
3Gain-
TANGO6-
-
-
-
1Loss-
TAOK3-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBC1D10A-
-
-
-
3Gain-
TBC1D10C-
-
-
-
4Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCEL-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX1-
-
-
-
3Gain-
TBX3p.P134S
Missense
SNP
0.606
3Gain-
TBX5-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA3-
-
-
-
3Gain-
TCEANC2-
-
-
-
5Amp-
TCERG1-
-
-
-
1Loss-
TCF20-
-
-
-
3Gain-
TCF25-
-
-
-
1Loss-
TCF3p.P640L
Missense
SNP
0.507
2--
TCF7-
-
-
-
1Loss-
TCHHL1p.G451E
Missense
SNP
0.460
2--
TCHP-
-
-
-
3Gain-
TCN1-
-
-
-
1Loss-
TCN2-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TDRD1p.E272K
Missense
SNP
0.458
2--
TDRD5p.R101Q
Missense
SNP
0.512
2--
TDRD9p.G973E
Missense
SNP
0.500
2--
TDRKHp.R372*
Nonsense
SNP
0.571
2--
TECTA-
-
-
-
1Loss-
TEF-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENM2p.G2542R
Missense
SNP
1.000
1Loss-
TENM3p.S2071F
Missense
SNP
0.495
2--
TENM4p.E1044K
Missense
SNP
0.377
3Gain-
TENT2-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TESC-
-
-
-
3Gain-
TESPA1-
-
-
-
1Loss-
TEX11p.E806K
Missense
SNP
0.990
NDND-
TEX12-
-
-
-
1Loss-
TEX33-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX46-
-
-
-
3Gain-
TFAP2E-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TFIP11-
-
-
-
3Gain-
TGp.G2010E
Missense
SNP
0.486
2--
TGFBI-
-
-
-
1Loss-
TGS1p.R847*
Nonsense
SNP
0.483
2--
THAP11-
-
-
-
1Loss-
THAP12-
-
-
-
1Loss-
THAP7-
-
-
-
3Gain-
THBS1p.G136R
Missense
SNP
0.493
2--
THBS4-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THOC5-
-
-
-
3Gain-
THRSP-
-
-
-
3Gain-
THSD4p.G813E
Missense
SNP
0.558
2--
THSD7Bp.W106*
Nonsense
SNP
0.500
2--
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAM2p.E301K
Missense
SNP
0.492
2--
TIFAB-
-
-
-
1Loss-
TIGD3-
-
-
-
1Loss-
TIGD6-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM10-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TIMP3-
-
-
-
3Gain-
TINAGL1-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TKFC-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLL1p.G168E
p.R535P
Missense
Missense
SNP
SNP
0.438
0.516
2--
TLNRD1-
-
-
-
1Loss-
TLR2p.P352L
Missense
SNP
0.415
2--
TLX3-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM6SF1-
-
-
-
3Gain-
TM7SF2-
-
-
-
1Loss-
TM7SF3p.R504Q
Missense
SNP
0.472
2--
TMC3-
-
-
-
1Loss-
TMCC3-
-
-
-
3Gain-
TMCO6-
-
-
-
1Loss-
TMED2-
-
-
-
3Gain-
TMED3-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM109-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
1Loss-
TMEM119-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM121B-
-
-
-
3Gain-
TMEM123-
-
-
-
1Loss-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM132A-
-
-
-
1Loss-
TMEM132B-
-
-
-
4Gain-
TMEM132Cp.E222K
p.W522*
Missense
Nonsense
SNP
SNP
0.445
0.495
4Gain-
TMEM132D-
-
-
-
4Gain-
TMEM134-
-
-
-
4Gain-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM170A-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM175p.T381I
Missense
SNP
0.458
2--
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM179B-
-
-
-
1Loss-
TMEM184B-
-
-
-
3Gain-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM2p.S249F
Missense
SNP
0.440
NDND-
TMEM200B-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM211-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM216-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM229A-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM233-
-
-
-
3Gain-
TMEM234-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM263-
-
-
-
3Gain-
TMEM266-
-
-
-
1Loss-
TMEM35B-
-
-
-
10Amp-
TMEM39B-
-
-
-
3Gain-
TMEM45B-
-
-
-
1Loss-
TMEM54-
-
-
-
6Amp-
TMEM59-
-
-
-
5Amp-
TMEM61-
-
-
-
5Amp-
TMEM88-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMPO-
-
-
-
3Gain-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS6-
-
-
-
3Gain-
TMPRSS7p.S474F
Missense
SNP
0.452
2--
TMPRSS9p.S266L
Missense
SNP
0.471
2--
TMUB1-
-
-
-
3Gain-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNKS1BP1-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNRp.E941K
Missense
SNP
0.459
2--
TNRC6B-
-
-
-
3Gain-
TNRC6Cp.H1387Y
Missense
SNP
0.511
2--
TNXB-
-
-
-
1Loss-
TOB2-
-
-
-
3Gain-
TOM1-
-
-
-
3Gain-
TOM1L2-
-
-
-
1Loss-
TOMM22-
-
-
-
3Gain-
TOP2Bp.D1137N
Missense
SNP
0.479
2--
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
3Gain-
TOX3-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TPBGL-
-
-
-
1Loss-
TPCN1-
-
-
-
3Gain-
TPGS2-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPPP3-
-
-
-
1Loss-
TPST2-
-
-
-
3Gain-
TPTE2p.P468S
Missense
SNP
0.321
2--
TPTEP2-CSNK1E-
-
-
-
3Gain-
TRABD2Bp.D187N
Missense
SNP
0.504
2--
TRADD-
-
-
-
1Loss-
TRAFD1-
-
-
-
3Gain-
TRAPPC1-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TRAV29DV5p.G42E
Missense
SNP
0.473
NDND-
TRBC2p.E259K
Missense
SNP
0.600
NDND-
TREH-
-
-
-
1Loss-
TRGC2p.M70I
Missense
SNP
0.415
NDND-
TRIAP1-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24-
-
-
-
3Gain-
TRIM29-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM41-
-
-
-
1Loss-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
1Loss-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM52-
-
-
-
1Loss-
TRIM58p.G467E
Missense
SNP
0.272
3Gain-
TRIM62-
-
-
-
6Amp-
TRIM64B-
-
-
-
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM77-
-
-
-
1Loss-
TRIOBPp.P1086S
Missense
SNP
0.578
3Gain-
TRIP6p.H392Y
Missense
SNP
0.444
2--
TRMT112-
-
-
-
1Loss-
TRMT2A-
-
-
-
3Gain-
TROAP-
-
-
-
3Gain-
TRPC6-
-
-
-
1Loss-
TRPC7-
-
-
-
1Loss-
TRPT1-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
3Gain-
TRPV5p.G224E
Missense
SNP
0.305
3Gain-
TRPV6-
-
-
-
3Gain-
TSGA10IP-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSKSp.M90I
Missense
SNP
0.564
2--
TSKUp.R158W
Missense
SNP
0.110
3Gain-
TSLP-
-
-
-
1Loss-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12p.Q203*
Nonsense
SNP
0.699
3Gain-
TSPAN17-
-
-
-
1Loss-
TSPAN2p.G136E
Missense
SNP
0.458
2--
TSPAN3-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPO-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK2-
-
-
-
3Gain-
TSSK3-
-
-
-
3Gain-
TST-
-
-
-
3Gain-
TTC1-
-
-
-
1Loss-
TTC12-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC22-
-
-
-
5Amp-
TTC24p.S472L
Missense
SNP
0.463
2--
TTC26-
-
-
-
3Gain-
TTC28-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC4-
-
-
-
5Amp-
TTC9C-
-
-
-
1Loss-
TTLL1-
-
-
-
3Gain-
TTLL12-
-
-
-
3Gain-
TTNp.K28267N
p.R17223Q
p.E11360K
p.V7056M
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.484
0.512
0.470
0.433
2--
TTPAp.R192C
Missense
SNP
0.476
2--
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TUBA3Ep.E196K
Missense
SNP
0.649
2--
TUBA8-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUT1-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF1-
-
-
-
1Loss-
TXLNA-
-
-
-
3Gain-
TXN2-
-
-
-
3Gain-
TXNDC15-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TXNRD1-
-
-
-
3Gain-
TXNRD2-
-
-
-
3Gain-
TYK2p.R633L
Missense
SNP
0.508
2--
TYR-
-
-
-
1Loss-
TYW3-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBC-
-
-
-
4Gain-
UBE2B-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2L3-
-
-
-
3Gain-
UBE2L6-
-
-
-
1Loss-
UBE2N-
-
-
-
1Loss-
UBE2Q2-
-
-
-
1Loss-
UBE3B-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBTD2-
-
-
-
1Loss-
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UFD1-
-
-
-
3Gain-
UGT2B15p.D95N
Missense
SNP
0.489
2--
UGT2B17p.D88N
Missense
SNP
0.509
2--
UGT2B4p.M214I
p.W5*
Missense
Nonsense
SNP
SNP
0.498
0.405
2--
UGT3A1p.G3R
Missense
SNP
0.462
2--
UHRF1BP1L-
-
-
-
3Gain-
UIMC1-
-
-
-
1Loss-
ULBP2p.W87*
Nonsense
SNP
0.287
2--
ULK1-
-
-
-
4Gain-
ULK2-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
UNC119B-
-
-
-
3Gain-
UNC13Cp.G20E
p.E521K
Missense
Missense
SNP
SNP
0.451
0.474
2--
UNC5A-
-
-
-
1Loss-
UNC5Dp.D866N
Missense
SNP
0.404
2--
UNC79p.P665S
Missense
SNP
0.462
2--
UNC80p.H3164Y
Missense
SNP
0.441
2--
UNG-
-
-
-
3Gain-
UPB1-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UQCC3-
-
-
-
1Loss-
UQCR10-
-
-
-
3Gain-
UQCRQ-
-
-
-
1Loss-
USB1-
-
-
-
1Loss-
USH2Ap.R4495C
Missense
SNP
0.473
2--
USO1p.A925V
Missense
SNP
0.448
2--
USP10-
-
-
-
1Loss-
USP18-
-
-
-
3Gain-
USP2-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP24-
-
-
-
5Amp-
USP28-
-
-
-
1Loss-
USP30-
-
-
-
3Gain-
USP32p.S1516L
Missense
SNP
0.556
2--
USP35-
-
-
-
3Gain-
USP41-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
3Gain-
USP6-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP20-
-
-
-
3Gain-
UTP4-
-
-
-
1Loss-
UVRAG-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDR-
-
-
-
3Gain-
VEGFB-
-
-
-
1Loss-
VEZT-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VMO1-
-
-
-
1Loss-
VN1R2p.P9S
Missense
SNP
0.682
2--
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS11-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS35-
-
-
-
1Loss-
VPS37B-
-
-
-
3Gain-
VPS37C-
-
-
-
1Loss-
VPS4A-
-
-
-
1Loss-
VPS51-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VPS9D1-
-
-
-
1Loss-
VSIG10-
-
-
-
3Gain-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWCE-
-
-
-
1Loss-
WASHC3-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP2NL-
-
-
-
3Gain-
WDFY4p.E332K
Missense
SNP
0.511
2--
WDR34-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR61-
-
-
-
1Loss-
WDR64p.R647*
Nonsense
SNP
0.398
3Gain-
WDR66-
-
-
-
3Gain-
WDR74-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR86-
-
-
-
3Gain-
WDR87p.R2573Q
p.E2069K
p.G1423E
p.S1280L
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.462
0.520
0.500
0.529
2--
WDR91-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WFDC1-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT8A-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WSB2-
-
-
-
3Gain-
WSCD1-
-
-
-
1Loss-
WSCD2-
-
-
-
3Gain-
WWC1-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
3Gain-
XDH-
-
-
-
1Loss-
XIRP2p.E1731K
p.K2200N
Missense
Missense
SNP
SNP
0.518
0.442
2--
XKR3p.R59Q
Missense
SNP
0.669
3Gain-
XPNPEP3-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRCC4-
-
-
-
1Loss-
XRCC6-
-
-
-
3Gain-
XRN1p.P1575S
Missense
SNP
0.467
2--
XRRA1-
-
-
-
1Loss-
YAP1-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YDJC-
-
-
-
3Gain-
YIPF1-
-
-
-
4Gain-
YIPF5-
-
-
-
1Loss-
YPEL1-
-
-
-
3Gain-
YPEL4-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YWHAE-
-
-
-
1Loss-
YWHAH-
-
-
-
3Gain-
Z82190.2-
-
-
-
3Gain-
Z83844.1-
-
-
-
3Gain-
Z83844.3-
-
-
-
3Gain-
ZAP70p.P60L
Missense
SNP
0.473
2--
ZBED2p.E157K
Missense
SNP
0.445
2--
ZBED3-
-
-
-
1Loss-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBED9p.P181S
Missense
SNP
1.000
2--
ZBTB16-
-
-
-
1Loss-
ZBTB18-
-
-
-
3Gain-
ZBTB3-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZC3H12C-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZC3H7B-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC11p.P185S
Missense
SNP
0.506
NDND-
ZCCHC14-
-
-
-
1Loss-
ZCCHC17-
-
-
-
3Gain-
ZCCHC8-
-
-
-
3Gain-
ZCCHC9-
-
-
-
1Loss-
ZCRB1-
-
-
-
1Loss-
ZDBF2p.S317F
p.D1204N
Missense
Missense
SNP
SNP
0.517
0.517
2--
ZDHHC1-
-
-
-
1Loss-
ZDHHC5-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFP90-
-
-
-
1Loss-
ZFP91-
-
-
-
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFPM2p.E700K
Missense
SNP
0.533
2--
ZFYVE16-
-
-
-
1Loss-
ZMAT2-
-
-
-
1Loss-
ZMAT5-
-
-
-
3Gain-
ZMYM1-
-
-
-
10Amp-
ZMYM4-
-
-
-
3Gain-
ZMYM6-
-
-
-
10Amp-
ZMYND15-
-
-
-
1Loss-
ZNF10-
-
-
-
4Gain-
ZNF124-
-
-
-
3Gain-
ZNF140-
-
-
-
4Gain-
ZNF18-
-
-
-
1Loss-
ZNF19-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF226p.A375T
Missense
SNP
0.482
2--
ZNF229p.D219N
Missense
SNP
0.533
2--
ZNF23-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF251p.H283Y
Missense
SNP
0.472
2--
ZNF257p.S14F
Missense
SNP
0.479
2--
ZNF26-
-
-
-
4Gain-
ZNF268-
-
-
-
4Gain-
ZNF276-
-
-
-
1Loss-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF292p.P1166L
Missense
SNP
0.496
2--
ZNF300-
-
-
-
1Loss-
ZNF319-
-
-
-
1Loss-
ZNF331p.H405Y
Missense
SNP
0.567
2--
ZNF346-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF362-
-
-
-
6Amp-
ZNF366-
-
-
-
1Loss-
ZNF385A-
-
-
-
1Loss-
ZNF398-
-
-
-
3Gain-
ZNF408-
-
-
-
1Loss-
ZNF423-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF436-
-
-
-
3Gain-
ZNF454-
-
-
-
1Loss-
ZNF467-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF470p.H182Y
Missense
SNP
0.444
2--
ZNF474-
-
-
-
1Loss-
ZNF496-
-
-
-
3Gain-
ZNF536p.P56L
Missense
SNP
0.548
2--
ZNF549p.P612L
Missense
SNP
0.483
2--
ZNF556p.S329F
Missense
SNP
0.520
2--
ZNF566p.R350C
Missense
SNP
0.448
2--
ZNF594-
-
-
-
1Loss-
ZNF605-
-
-
-
4Gain-
ZNF608-
-
-
-
1Loss-
ZNF624-
-
-
-
1Loss-
ZNF664-
-
-
-
4Gain-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF69p.S520F
Missense
SNP
0.511
2--
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF70-
-
-
-
3Gain-
ZNF729p.H258Y
p.E1017K
Missense
Missense
SNP
SNP
0.529
0.459
2--
ZNF74-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804Ap.H258Y
Missense
SNP
0.475
2--
ZNF821-
-
-
-
1Loss-
ZNF831p.S1554L
Missense
SNP
0.506
2--
ZNF84-
-
-
-
4Gain-
ZNF862-
-
-
-
3Gain-
ZNF878p.R415Q
Missense
SNP
0.505
2--
ZNF879-
-
-
-
1Loss-
ZNF891-
-
-
-
4Gain-
ZNHIT2-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF3-
-
-
-
3Gain-
ZP1-
-
-
-
1Loss-
ZPR1-
-
-
-
1Loss-
ZSCAN1p.S236L
Missense
SNP
0.500
2--
ZSCAN20-
-
-
-
6Amp-
ZSWIM6-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-
ZYX-
-
-
-
3Gain-
ZZEF1-
-
-
-
1Loss-