PDMR-235635~245-T~D33M941Y63-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
ABCA7-
-
-
-
1Loss-
ABCB10-
-
-
-
3Gain-
ABCC2-
-
-
-
3Gain-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
3Gain-
ABCC8-
-
-
-
1Loss-
ABCF3-
-
-
-
3Gain-
ABCG1-
-
-
-
3Gain-
ABHD13-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABL2-
-
-
-
3Gain-
ABRAXAS2-
-
-
-
3Gain-
ABTB2-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC009119.2-
-
-
-
3Gain-
AC009163.2-
-
-
-
3Gain-
AC009163.4-
-
-
-
3Gain-
AC010531.1-
-
-
-
3Gain-
AC010547.4-
-
-
-
3Gain-
AC011330.3-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018554.3-
-
-
-
3Gain-
AC018709.1-
-
-
-
1Loss-
AC020636.2-
-
-
-
3Gain-
AC025287.4-
-
-
-
3Gain-
AC026316.5-
-
-
-
6Amp-
AC067752.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC068896.1-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC079594.2-
-
-
-
5Amp-
AC084337.2-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092143.1-
-
-
-
3Gain-
AC092718.3-
-
-
-
3Gain-
AC092718.8-
-
-
-
3Gain-
AC104151.1-
-
-
-
3Gain-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104472.3-
-
-
-
5Amp-
AC112504.2-
-
-
-
3Gain-
AC113348.2-
-
-
-
1Loss-
AC117457.1-
-
-
-
3Gain-
AC131160.1-
-
-
-
3Gain-
AC139491.7-
-
-
-
1Loss-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
ACAA2-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACER2-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACO1-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACSF3-
-
-
-
3Gain-
ACSL1-
-
-
-
1Loss-
ACSL5-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTC1-
-
-
-
1Loss-
ACTL6A-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ACTR1A-
-
-
-
5Amp-
ACTR6-
-
-
-
1Loss-
ACTRT3-
-
-
-
6Amp-
ADAD2-
-
-
-
3Gain-
ADAL-
-
-
-
1Loss-
ADAM12-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAM19-
-
-
-
1Loss-
ADAM8-
-
-
-
3Gain-
ADAMTS12-
-
-
-
3Gain-
ADAMTS14-
-
-
-
1Loss-
ADAMTS18-
-
-
-
3Gain-
ADAMTS2-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADARB1-
-
-
-
3Gain-
ADAT1-
-
-
-
3Gain-
ADAT3-
-
-
-
1Loss-
ADCK1p.K218E
Missense
SNP
0.434
2--
ADCY10-
-
-
-
3Gain-
ADCY2-
-
-
-
1Loss-
ADCY7p.A184T
Missense
SNP
0.502
2--
ADGRA1-
-
-
-
3Gain-
ADIPOQp.A41V
Missense
SNP
0.289
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADIRF-
-
-
-
3Gain-
ADM-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADPRHL1-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA2A-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
AENp.A194T
Missense
SNP
0.566
2--
AES-
-
-
-
1Loss-
AGBL2-
-
-
-
1Loss-
AGPAT3-
-
-
-
3Gain-
AGT-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AGXT2-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AHNAK-
-
-
-
2-ATP2B4--AHNAK
AHSG-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIFM2-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AIRE-
-
-
-
3Gain-
AK3-
-
-
-
3Gain-
AKAP11-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AL035078.4-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL133352.1-
-
-
-
3Gain-
AL133353.2-
-
-
-
4Gain-
AL133410.3-
-
-
-
3Gain-
AL138752.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL162231.1-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL162377.3-
-
-
-
1Loss-
AL355315.1-
-
-
-
6Amp-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
3Gain-
AL445238.1-
-
-
-
1Loss-
AL445989.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
1Loss-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALDH18A1-
-
-
-
3Gain-
ALDH1B1-
-
-
-
3Gain-
ALDH9A1-
-
-
-
3Gain-
ALG11-
-
-
-
1Loss-
ALG3-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALKBH3-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
AMACR-
-
-
-
3Gain-
AMBRA1-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMIGO3p.R77C
Missense
SNP
0.175
2--
AMOTL2-
-
-
-
3Gain-
AMPD3-
-
-
-
1Loss-
ANAPC13-
-
-
-
3Gain-
ANAPC16-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANK3-
-
-
-
1Loss-
ANKH-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD11-
-
-
-
3Gain-
ANKRD18A-
-
-
-
3Gain-
ANKRD18B-
-
-
-
3Gain-
ANKRD2-
-
-
-
6Amp-
ANKRD20A2-
-
-
-
3Gain-
ANKRD33B-
-
-
-
1Loss-
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD37-
-
-
-
1Loss-
ANKRD45-
-
-
-
3Gain-
ANKRD63-
-
-
-
1Loss-
ANKUB1-
-
-
-
3Gain-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANXA11-
-
-
-
2-ANXA11--NRAP
ANXA2R-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AP1G1-
-
-
-
3Gain-
AP2A2-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP3D1-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
APBA2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOBEC4-
-
-
-
3Gain-
APOD-
-
-
-
3Gain-
APRT-
-
-
-
3Gain-
APTX-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP3-
-
-
-
3Gain-
AQP7-
-
-
-
3Gain-
AQR-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARFGAP2-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP19-
-
-
-
6Amp-
ARHGAP19-SLIT1-
-
-
-
6Amp-
ARHGAP30-
-
-
-
3Gain-
ARHGAP45-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF26-
-
-
-
5Amp-
ARHGEF39-
-
-
-
3Gain-
ARHGEF7-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3C-
-
-
-
3Gain-
ARID4B-
-
-
-
3Gain-
ARID5B-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL14-
-
-
-
5Amp-
ARL14EP-
-
-
-
1Loss-
ARL3-
-
-
-
5Amp-
ARL8A-
-
-
-
3Gain-
ARMC8-
-
-
-
3Gain-
ARMH3-
-
-
-
3Gain-
ARMS2-
-
-
-
3Gain-
ARNT-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPP19-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARV1-
-
-
-
3Gain-
AS3MT-
-
-
-
5Amp-
ASCC1-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASIC4p.G13R
Missense
SNP
0.531
2--
ASPM-
-
-
-
3Gain-
ASTN1-
-
-
-
3Gain-
ATAD1-
-
-
-
3Gain-
ATCAY-
-
-
-
1Loss-
ATE1-
-
-
-
4Gain-
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATG13-
-
-
-
1Loss-
ATMIN-
-
-
-
3Gain-
ATOH7-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP2B4-
-
-
-
3GainATP2B4--AHNAK
ATP2C2-
-
-
-
3Gain-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5MD-
-
-
-
5Amp-
ATP5PO-
-
-
-
3Gain-
ATP6V0E1-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATR-
-
-
-
3Gain-
ATRNL1-
-
-
-
1Loss-
ATXN1L-
-
-
-
3Gain-
AVEN-
-
-
-
1Loss-
AVPI1-
-
-
-
6Amp-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALNT1-
-
-
-
5Amp-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GALT5-
-
-
-
3Gain-
B3GNT5-
-
-
-
3Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
B4GALT7-
-
-
-
1Loss-
BACE2-
-
-
-
3Gain-
BAG1-
-
-
-
3Gain-
BAHCC1p.A2573V
Missense
SNP
0.447
2--
BAHD1-
-
-
-
1Loss-
BANP-
-
-
-
3Gain-
BASP1-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BBIP1-
-
-
-
3Gain-
BBOX1-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAR1p.V561L
Missense
SNP
0.285
3Gain-
BCCIP-
-
-
-
3Gain-
BCHE-
-
-
-
6Amp-
BCL2-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL6-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCO1-
-
-
-
3Gain-
BDH1-
-
-
-
3Gain-
BDNF-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BICC1-
-
-
-
1Loss-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLNK-
-
-
-
3Gain-
BLOC1S2-
-
-
-
3Gain-
BLOC1S6-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
1Loss-
BMPR1A-
-
-
-
3Gain-
BNC2-
-
-
-
3Gain-
BNIP1-
-
-
-
1Loss-
BNIP3-
-
-
-
3Gain-
BNIPL-
-
-
-
3Gain-
BOD1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS7-
-
-
-
5Amp-
BORCS7-ASMT-
-
-
-
5Amp-
BPNT1-
-
-
-
3Gain-
BRCA2-
-
-
-
1Loss-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRSK2-
-
-
-
1Loss-
BRWD1-
-
-
-
3Gain-
BSG-
-
-
-
1Loss-
BTAF1-
-
-
-
3Gain-
BTBD10-
-
-
-
1Loss-
BTBD16-
-
-
-
3Gain-
BTBD2-
-
-
-
1Loss-
BTG2-
-
-
-
3Gain-
BTNL3-
-
-
-
0Del-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BTRC-
-
-
-
3Gain-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
C10orf105-
-
-
-
1Loss-
C10orf62-
-
-
-
6Amp-
C10orf90-
-
-
-
3Gain-
C10orf95-
-
-
-
5Amp-
C10orf99-
-
-
-
3Gain-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C16orf46-
-
-
-
3Gain-
C16orf74-
-
-
-
3Gain-
C16orf95-
-
-
-
3Gain-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF4-
-
-
-
1Loss-
C21orf58-
-
-
-
3Gain-
C2CD2-
-
-
-
3Gain-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C3orf33-
-
-
-
5Amp-
C3orf58-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
5Amp-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf47-
-
-
-
1Loss-
C5AR1p.R232C
Missense
SNP
0.438
2--
C5orf22-
-
-
-
3Gain-
C5orf34-
-
-
-
3Gain-
C5orf42p.R21C
Missense
SNP
0.338
NDND-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
1Loss-
C5orf51-
-
-
-
3Gain-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C6-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C9-
-
-
-
3Gain-
C9orf131-
-
-
-
3Gain-
C9orf24-
-
-
-
3Gain-
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf92-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA5A-
-
-
-
3Gain-
CA9-
-
-
-
3Gain-
CAAP1-
-
-
-
3Gain-
CAB39L-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CACNA1Bp.A1819T
Missense
SNP
1.000
2--
CACNA1E-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACTIN-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALHM1-
-
-
-
7Amp-
CALHM2-
-
-
-
7Amp-
CALHM3-
-
-
-
7Amp-
CALY-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMK2N2-
-
-
-
3Gain-
CAMSAP2-
-
-
-
3Gain-
CANX-
-
-
-
1Loss-
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPRIN1-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARS-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASP7-
-
-
-
3Gain-
CASQ1-
-
-
-
3Gain-
CAT-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBFA2T3-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBR1-
-
-
-
3Gain-
CBR3-
-
-
-
3Gain-
CBS-
-
-
-
3Gain-
CBSL-
-
-
-
3Gain-
CBWD1-
-
-
-
3Gain-
CBY3-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC107-
-
-
-
3Gain-
CCDC110-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC13p.A187T
Missense
SNP
0.521
2--
CCDC152-
-
-
-
3Gain-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC171-
-
-
-
3Gain-
CCDC179-
-
-
-
1Loss-
CCDC181-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC32-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC6-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC86p.R294H
Missense
SNP
0.456
2--
CCDC9B-
-
-
-
1Loss-
CCIN-
-
-
-
3Gain-
CCKBR-
-
-
-
1Loss-
CCL19-
-
-
-
3Gain-
CCL21-
-
-
-
3Gain-
CCL27-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCNA1-
-
-
-
1Loss-
CCND1p.T286A
Missense
SNP
0.514
2--
CCNDBP1-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNJ-
-
-
-
3Gain-
CCNJL-
-
-
-
1Loss-
CCNL1-
-
-
-
5Amp-
CCSAP-
-
-
-
3Gain-
CCSER2-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CCT5-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD274-
-
-
-
3Gain-
CD34-
-
-
-
3Gain-
CD44-
-
-
-
1Loss-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD59-
-
-
-
1Loss-
CD5L-
-
-
-
3Gain-
CD72-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDAN1-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37L1-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDH10p.R128H
Missense
SNP
0.349
1Loss-
CDH13-
-
-
-
3Gain-
CDH15-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH23-
-
-
-
1Loss-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CDHR1-
-
-
-
3Gain-
CDHR2-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK10-
-
-
-
3Gain-
CDK18-
-
-
-
3Gain-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
3Gain-
CDKN2AIP-
-
-
-
1Loss-
CDKN2B-
-
-
-
3Gain-
CDT1-
-
-
-
3Gain-
CDV3-
-
-
-
3Gain-
CDYL2-
-
-
-
3Gain-
CELF1-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELF5-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPBD1-
-
-
-
3Gain-
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPN-
-
-
-
3Gain-
CENPU-
-
-
-
1Loss-
CEP131p.L349P
Missense
SNP
0.439
2--
CEP152-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP19-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CER1-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP410-
-
-
-
3Gain-
CFAP43-
-
-
-
6Amp-
CFAP45-
-
-
-
3Gain-
CFAP46-
-
-
-
3Gain-
CFAP53-
-
-
-
1Loss-
CFAP54p.X2159_splice
Splice_Site
SNP
0.388
2--
CFAP58-
-
-
-
6Amp-
CFAP97-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFDP1-
-
-
-
3Gain-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CHAC1-
-
-
-
1Loss-
CHAF1B-
-
-
-
3Gain-
CHAMP1-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD8p.R700C
Missense
SNP
0.491
2--
CHI3L1-
-
-
-
3Gain-
CHID1-
-
-
-
1Loss-
CHIT1-
-
-
-
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
3Gain-
CHMP5-
-
-
-
3Gain-
CHP1-
-
-
-
1Loss-
CHPF2p.R122L
Missense
SNP
0.501
2--
CHRD-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM3-
-
-
-
3Gain-
CHRM4-
-
-
-
1Loss-
CHRM5-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHST1-
-
-
-
1Loss-
CHST14-
-
-
-
1Loss-
CHST2-
-
-
-
3Gain-
CHST3-
-
-
-
1Loss-
CHST4-
-
-
-
3Gain-
CHST5-
-
-
-
3Gain-
CHST6-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CHUK-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIRBP-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CLCN2-
-
-
-
3Gain-
CLDN1-
-
-
-
3Gain-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
6Amp-
CLDN14-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLEC18B-
-
-
-
3Gain-
CLEC3A-
-
-
-
3Gain-
CLIC6-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLK2-
-
-
-
3Gain-
CLK4-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLSTN2-
-
-
-
3Gain-
CLTA-
-
-
-
3Gain-
CLTB-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CMBL-
-
-
-
1Loss-
CMC2-
-
-
-
3Gain-
CMIP-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNMD-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNNM1-
-
-
-
4Gain-
CNNM2-
-
-
-
5Amp-
CNOT6-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTFR-
-
-
-
3Gain-
CNTLN-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTN5-
-
-
-
3Gain-
CNTNAP2-
-
-
-
3Gain-
CNTNAP3-
-
-
-
3Gain-
CNTNAP3B-
-
-
-
3Gain-
CNTNAP4-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COL11A1p.E1469G
Missense
SNP
0.509
2--
COL13A1-
-
-
-
3Gain-
COL17A1-
-
-
-
7Amp-
COL18A1-
-
-
-
3Gain-
COL23A1-
-
-
-
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL6A1-
-
-
-
3Gain-
COL6A2-
-
-
-
3Gain-
COLGALT2-
-
-
-
3Gain-
COMMD2-
-
-
-
3Gain-
COMMD6-
-
-
-
1Loss-
COMMD9-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPB1-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
COTL1-
-
-
-
3Gain-
COX15-
-
-
-
4Gain-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
3Gain-
CP-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPEB3-
-
-
-
3Gain-
CPEB4-
-
-
-
1Loss-
CPLANE1-
-
-
-
3Gain-
CPLX2-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPN1-
-
-
-
3Gain-
CPN2-
-
-
-
3Gain-
CPNE7-
-
-
-
3Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRB1-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3-
-
-
-
3Gain-
CREB3L1-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREBRF-
-
-
-
1Loss-
CREG1-
-
-
-
3Gain-
CRISPLD2-
-
-
-
3Gain-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTAC1-
-
-
-
4Gain-
CRTC2-
-
-
-
3Gain-
CRXp.Y261N
Missense
SNP
0.203
2--
CRY2-
-
-
-
1Loss-
CRYAA-
-
-
-
3Gain-
CRYAA2-
-
-
-
3Gain-
CRYGS-
-
-
-
3Gain-
CSNK1A1L-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSRP1-
-
-
-
3Gain-
CSRP3-
-
-
-
1Loss-
CSTB-
-
-
-
3Gain-
CSTF3-
-
-
-
1Loss-
CTBP2-
-
-
-
3Gain-
CTDP1-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNNA3-
-
-
-
1Loss-
CTNND2-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTRB1-
-
-
-
3Gain-
CTRB2-
-
-
-
3Gain-
CTSD-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTU2-
-
-
-
3Gain-
CTXN2-
-
-
-
1Loss-
CUEDC2-
-
-
-
5Amp-
CUL4A-
-
-
-
1Loss-
CUTC-
-
-
-
4Gain-
CWF19L1-
-
-
-
3Gain-
CXXC1-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R2-
-
-
-
1Loss-
CYBA-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYP17A1-
-
-
-
5Amp-
CYP19A1-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP4V2-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYTH4p.T113A
Missense
SNP
0.483
2--
DAB2-
-
-
-
3Gain-
DACH1-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAP-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DBN1-
-
-
-
1Loss-
DBNDD1-
-
-
-
3Gain-
DBR1-
-
-
-
3Gain-
DBX1-
-
-
-
1Loss-
DCAF10-
-
-
-
3Gain-
DCAF12-
-
-
-
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCC-
-
-
-
1Loss-
DCDC1-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCTD-
-
-
-
1Loss-
DCTN3-
-
-
-
3Gain-
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDX17p.S623G
Missense
SNP
0.434
2--
DDX41-
-
-
-
1Loss-
DDX58-
-
-
-
3Gain-
DDX59-
-
-
-
3Gain-
DEAF1-
-
-
-
1Loss-
DEDD-
-
-
-
3Gain-
DEF8-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DESI2-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DGKZ-
-
-
-
1Loss-
DHODH-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHX32-
-
-
-
3Gain-
DHX36-
-
-
-
5Amp-
DHX38-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DIAPH3-
-
-
-
1Loss-
DIP2A-
-
-
-
3Gain-
DIRAS1-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLG5-
-
-
-
4Gain-
DLL4-
-
-
-
1Loss-
DMAC1-
-
-
-
3Gain-
DMBT1-
-
-
-
3Gain-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMXL2-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF1-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH2p.R1992H
Missense
SNP
0.540
2--
DNAH5-
-
-
-
1Loss-
DNAH9p.L546Q
Missense
SNP
0.594
2--
DNAI1-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJB11-
-
-
-
3Gain-
DNAJB12-
-
-
-
1Loss-
DNAJB5-
-
-
-
3Gain-
DNAJC15-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC24-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMBP-
-
-
-
3Gain-
DNMT3L-
-
-
-
3Gain-
DNTT-
-
-
-
3Gain-
DOCK2-
-
-
-
1Loss-
DOCK8-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK3-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOP1B-
-
-
-
3Gain-
DOT1L-
-
-
-
1Loss-
DPCD-
-
-
-
3Gain-
DPEP1-
-
-
-
3Gain-
DPH6-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP6p.G85W
Missense
SNP
0.403
2--
DPT-
-
-
-
3Gain-
DPYSL4-
-
-
-
3Gain-
DRD1-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSCAM-
-
-
-
3Gain-
DSEL-
-
-
-
1Loss-
DSTp.E4102D
Missense
SNP
0.437
2--
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNBP1p.C302R
Missense
SNP
0.508
2--
DTWD1-
-
-
-
1Loss-
DTX3p.E116D
Missense
SNP
0.439
2--
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DUXB-
-
-
-
3Gain-
DVL3-
-
-
-
3Gain-
DYDC1-
-
-
-
3Gain-
DYDC2-
-
-
-
3Gain-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC2H1p.R514*
Nonsense
SNP
0.444
2--
DYNLRB2-
-
-
-
3Gain-
DYRK1A-
-
-
-
3Gain-
DYRK3-
-
-
-
3Gain-
DZIP1-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
E2F8-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECM1-
-
-
-
3Gain-
ECT2-
-
-
-
6Amp-
EDARADD-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EDIL3p.X119_splice
Splice_Site
SNP
0.323
2--
EDNRB-
-
-
-
1Loss-
EDRF1-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EFCAB2-
-
-
-
3Gain-
EFCAB9-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB2-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EGLN2p.P90Q
Missense
SNP
0.319
2--
EGR2-
-
-
-
1Loss-
EHD4-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EID1-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2AK4-
-
-
-
1Loss-
EIF2B5-
-
-
-
3Gain-
EIF2D-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3J-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4E1B-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF4G2-
-
-
-
1Loss-
EIF5A2-
-
-
-
6Amp-
ELAC1-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL2-
-
-
-
3Gain-
ELAVL3p.A271V
Missense
SNP
0.504
2--
ELF1-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELF5-
-
-
-
1Loss-
ELK4-
-
-
-
3Gain-
ELL3-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOVL3-
-
-
-
5Amp-
ELP4p.L504F
Missense
SNP
0.707
1Loss-
EMB-
-
-
-
3Gain-
EMC4-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC8-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENHO-
-
-
-
3Gain-
ENOX1-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTPD1-
-
-
-
3Gain-
ENTPD7-
-
-
-
4Gain-
EPB42-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA5p.P141S
Missense
SNP
0.463
2--
EPHB1-
-
-
-
3Gain-
EPHB2p.M735V
Missense
SNP
0.510
2--
EPHB3-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
EPS8L2-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
EQTN-
-
-
-
3Gain-
ERBB3p.A1030T
Missense
SNP
0.520
2--
ERCC5-
-
-
-
1Loss-
ERG-
-
-
-
3Gain-
ERGIC1-
-
-
-
1Loss-
ERICH6-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERLIN1-
-
-
-
3Gain-
ERMP1-
-
-
-
3Gain-
ERN2p.Q837K
Missense
SNP
0.457
2--
ERO1B-
-
-
-
3Gain-
ESD-
-
-
-
1Loss-
ESRRG-
-
-
-
3Gain-
ESX1p.V339L
p.R338P
Missense
Missense
SNP
SNP
0.136
0.105
NDND-
ESYT3-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETS2-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
EVC2p.M638R
Missense
SNP
0.420
2--
EXD1-
-
-
-
1Loss-
EXO1-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOSC1-
-
-
-
6Amp-
EXOSC3-
-
-
-
3Gain-
EXOSC8-
-
-
-
1Loss-
EXT2-
-
-
-
1Loss-
F10-
-
-
-
1Loss-
F11-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F12-
-
-
-
1Loss-
F13B-
-
-
-
3Gain-
F2-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
F7-
-
-
-
1Loss-
FA2H-
-
-
-
3Gain-
FAAH2p.R436C
Missense
SNP
0.533
NDND-
FABP6-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM124A-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM131A-
-
-
-
3Gain-
FAM13Ap.R619W
Missense
SNP
0.492
2--
FAM13C-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM155Bp.A163P
Missense
SNP
0.315
NDND-
FAM160A2-
-
-
-
1Loss-
FAM163A-
-
-
-
3Gain-
FAM166B-
-
-
-
3Gain-
FAM173B-
-
-
-
1Loss-
FAM177B-
-
-
-
3Gain-
FAM180B-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM189B-
-
-
-
3Gain-
FAM193B-
-
-
-
1Loss-
FAM205A-
-
-
-
3Gain-
FAM207A-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM214A-
-
-
-
1Loss-
FAM214B-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM219A-
-
-
-
3Gain-
FAM221B-
-
-
-
3Gain-
FAM227B-
-
-
-
1Loss-
FAM240B-
-
-
-
3Gain-
FAM241B-
-
-
-
3Gain-
FAM243A-
-
-
-
3Gain-
FAM243B-
-
-
-
3Gain-
FAM3B-
-
-
-
3Gain-
FAM43A-
-
-
-
3Gain-
FAM53B-
-
-
-
3Gain-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71B-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FAM92B-
-
-
-
3Gain-
FAM95C-
-
-
-
3Gain-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCA-
-
-
-
3Gain-
FANCD2p.A225T
Missense
SNP
0.577
2--
FANCF-
-
-
-
1Loss-
FANCG-
-
-
-
3Gain-
FANK1-
-
-
-
3Gain-
FAR1-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASTKD3-
-
-
-
1Loss-
FAT1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBN1-
-
-
-
1Loss-
FBN3p.R2013W
Missense
SNP
0.505
2--
FBXL15-
-
-
-
5Amp-
FBXL3-
-
-
-
1Loss-
FBXL7-
-
-
-
1Loss-
FBXO10-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO3-
-
-
-
1Loss-
FBXO31-
-
-
-
3Gain-
FBXO4-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXW11-
-
-
-
1Loss-
FBXW4-
-
-
-
3Gain-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FETUB-
-
-
-
3Gain-
FGF10-
-
-
-
3Gain-
FGF12p.K190R
Missense
SNP
0.348
3Gain-
FGF14-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGF8-
-
-
-
3Gain-
FGFBP3-
-
-
-
3Gain-
FGFR2-
-
-
-
4Gain-
FGFR4-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FIBIN-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP10p.Y179C
Missense
SNP
0.472
2--
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLT4-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FMN1-
-
-
-
1Loss-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
6Amp-
FNDC9-
-
-
-
1Loss-
FOCAD-
-
-
-
3Gain-
FOXA1p.S280G
Missense
SNP
0.445
2--
FOXC2-
-
-
-
3Gain-
FOXF1-
-
-
-
3Gain-
FOXI1-
-
-
-
1Loss-
FOXL1-
-
-
-
3Gain-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXO1-
-
-
-
1Loss-
FP565260.1-
-
-
-
3Gain-
FP565260.2-
-
-
-
3Gain-
FP565260.3-
-
-
-
3Gain-
FP565260.4-
-
-
-
3Gain-
FP565260.6-
-
-
-
3Gain-
FRAT1-
-
-
-
6Amp-
FRAT2-
-
-
-
6Amp-
FREM1-
-
-
-
3Gain-
FREM2-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRMPD1-
-
-
-
3Gain-
FRY-
-
-
-
1Loss-
FSCB-
-
-
-
3Gain-
FSHB-
-
-
-
1Loss-
FSHRp.R28S
Missense
SNP
0.418
2--
FSIP1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FTCD-
-
-
-
3Gain-
FXR1-
-
-
-
3Gain-
FYB1-
-
-
-
3Gain-
FYTTD1-
-
-
-
3Gain-
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
GABARAPL2-
-
-
-
3Gain-
GABPB1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALNS-
-
-
-
3Gain-
GALNT18-
-
-
-
1Loss-
GALNT2-
-
-
-
3Gain-
GALR1-
-
-
-
1Loss-
GALT-
-
-
-
3Gain-
GAMT-
-
-
-
1Loss-
GAN-
-
-
-
3Gain-
GANC-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GAS8-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GATD1-
-
-
-
1Loss-
GATD3A-
-
-
-
3Gain-
GATD3B-
-
-
-
3Gain-
GATM-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
3Gain-
GBF1-
-
-
-
5Amp-
GCHFR-
-
-
-
1Loss-
GCSAML-
-
-
-
5Amp-
GCSAML-AS1-
-
-
-
5Amp-
GCSH-
-
-
-
3Gain-
GDNF-
-
-
-
3Gain-
GFM1-
-
-
-
5Amp-
GFPT2-
-
-
-
1Loss-
GGACT-
-
-
-
1Loss-
GGPS1-
-
-
-
3Gain-
GHITM-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHSR-
-
-
-
6Amp-
GINS2-
-
-
-
3Gain-
GIPC3-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8p.V287L
Missense
SNP
0.641
3Gain-
GJC2-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLDC-
-
-
-
3Gain-
GLDN-
-
-
-
1Loss-
GLG1-
-
-
-
3Gain-
GLIPR2-
-
-
-
3Gain-
GLIS3-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLRX2-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GLUD1-
-
-
-
3Gain-
GLUL-
-
-
-
3Gain-
GMCL2-
-
-
-
1Loss-
GMNC-
-
-
-
3Gain-
GMPS-
-
-
-
5Amp-
GNA11-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNE-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNL3-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GOLGA6L7-
-
-
-
1Loss-
GOLGA7B-
-
-
-
4Gain-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLIM4-
-
-
-
6Amp-
GOLPH3-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GOT1-
-
-
-
4Gain-
GP5-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPAM-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH4-
-
-
-
3Gain-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR149-
-
-
-
5Amp-
GPR156p.T493A
Missense
SNP
0.480
2--
GPR160-
-
-
-
6Amp-
GPR161-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR25-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRIN1-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GREM1-
-
-
-
1Loss-
GREM2-
-
-
-
3Gain-
GRHPR-
-
-
-
3Gain-
GRID1-
-
-
-
3Gain-
GRIN3Ap.S446G
Missense
SNP
0.188
2--
GRIN3B-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM6-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GSE1-
-
-
-
3Gain-
GSTO1-
-
-
-
6Amp-
GSTO2-
-
-
-
6Amp-
GTDC1p.R291G
Missense
SNP
0.529
2--
GTF2F2-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GYG1-
-
-
-
3Gain-
GZMM-
-
-
-
1Loss-
H2AFY2-
-
-
-
3Gain-
H2BFS-
-
-
-
3Gain-
H3F3A-
-
-
-
3Gain-
HABP2-
-
-
-
3Gain-
HACD4-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HARBI1-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS6-
-
-
-
3Gain-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HCN1-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HDC-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDHD2-
-
-
-
1Loss-
HEATR1-
-
-
-
3Gain-
HELT-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HES1-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HIF1AN-
-
-
-
3Gain-
HIGD2A-
-
-
-
1Loss-
HINT2-
-
-
-
3Gain-
HIPK3-
-
-
-
1Loss-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HK3-
-
-
-
1Loss-
HLCS-
-
-
-
3Gain-
HLTF-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HMCN1-
-
-
-
3Gain-
HMG20B-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGN1-
-
-
-
3Gain-
HMMR-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HNRNPAB-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HOGA1-
-
-
-
6Amp-
HORMAD1-
-
-
-
3Gain-
HP-
-
-
-
3Gain-
HPR-
-
-
-
3Gain-
HPS1-
-
-
-
4Gain-
HPS3-
-
-
-
3Gain-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
5Amp-
HPSE2-
-
-
-
4Gain-
HPX-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRASLS-
-
-
-
3Gain-
HRCT1-
-
-
-
3Gain-
HRG-
-
-
-
3Gain-
HRH2-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS6ST3-
-
-
-
1Loss-
HSBP1-
-
-
-
3Gain-
HSBP1L1-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD17B12-
-
-
-
1Loss-
HSD17B2-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSDL1-
-
-
-
3Gain-
HSF2BP-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HTATIP2-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTRA1-
-
-
-
3Gain-
HYPK-
-
-
-
1Loss-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICOSLG-
-
-
-
3Gain-
IER3IP1-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
3Gain-
IFNA10-
-
-
-
3Gain-
IFNA13-
-
-
-
3Gain-
IFNA14-
-
-
-
3Gain-
IFNA16-
-
-
-
3Gain-
IFNA17-
-
-
-
3Gain-
IFNA2-
-
-
-
3Gain-
IFNA21-
-
-
-
3Gain-
IFNA4-
-
-
-
3Gain-
IFNA5-
-
-
-
3Gain-
IFNA6-
-
-
-
3Gain-
IFNA7-
-
-
-
3Gain-
IFNA8-
-
-
-
3Gain-
IFNB1-
-
-
-
3Gain-
IFNE-
-
-
-
3Gain-
IFNK-
-
-
-
3Gain-
IFNW1-
-
-
-
3Gain-
IFT74-
-
-
-
3Gain-
IFT80-
-
-
-
5Amp-
IGF2-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGFBPL1-
-
-
-
3Gain-
IGFN1-
-
-
-
3Gain-
IGSF10-
-
-
-
3Gain-
IGSF22-
-
-
-
1Loss-
IGSF5-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IKBKE-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL11RA-
-
-
-
3Gain-
IL12A-
-
-
-
5Amp-
IL12B-
-
-
-
1Loss-
IL17C-
-
-
-
3Gain-
IL19-
-
-
-
3Gain-
IL1RAP-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL33-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL7R-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILK-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
INA-
-
-
-
5Amp-
INAVA-
-
-
-
3Gain-
ING1-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
INO80-
-
-
-
1Loss-
INPP5A-
-
-
-
3Gain-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL4-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INSYN2B-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INTS7-
-
-
-
3Gain-
IPMK-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPO9-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
5Amp-
IQCJ-SCHIP1-
-
-
-
5Amp-
IQGAP3-
-
-
-
3Gain-
IRF2-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF7-
-
-
-
1Loss-
IRF8-
-
-
-
3Gain-
IRS2-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
3Gain-
IST1-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGB2-
-
-
-
3Gain-
ITGBL1-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2B-
-
-
-
1Loss-
ITPKA-
-
-
-
1Loss-
ITPKB-
-
-
-
3Gain-
ITPRIP-
-
-
-
6Amp-
ITSN1-
-
-
-
3Gain-
IVD-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IZUMO3-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JAK2-
-
-
-
3Gain-
JAKMIP3-
-
-
-
3Gain-
JMJD1C-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JPH3-
-
-
-
3Gain-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
KANK1-
-
-
-
3Gain-
KARS-
-
-
-
3Gain-
KATNAL2-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KAZALD1-
-
-
-
3Gain-
KBTBD4-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNAB1-
-
-
-
5Amp-
KCNC1-
-
-
-
1Loss-
KCNE1-
-
-
-
3Gain-
KCNE1B-
-
-
-
3Gain-
KCNE2-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNG4-
-
-
-
3Gain-
KCNH1-
-
-
-
3Gain-
KCNIP1-
-
-
-
1Loss-
KCNIP2-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ11-
-
-
-
1Loss-
KCNJ15-
-
-
-
3Gain-
KCNJ6-
-
-
-
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNMA1-
-
-
-
4Gain-
KCNMB1-
-
-
-
1Loss-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNN3-
-
-
-
3Gain-
KCNQ1-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNT2-
-
-
-
3Gain-
KCNV2-
-
-
-
3Gain-
KCTD12-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD4-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDM3Ap.K580I
Missense
SNP
0.339
2--
KDM4C-
-
-
-
3Gain-
KDM5B-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHDRBS2p.R206S
Missense
SNP
0.469
2--
KHSRPp.I285V
Missense
SNP
0.497
2--
KIAA0040-
-
-
-
3Gain-
KIAA0513-
-
-
-
3Gain-
KIAA1191-
-
-
-
1Loss-
KIAA1210p.Q692R
Missense
SNP
0.468
NDND-
KIAA1549L-
-
-
-
1Loss-
KIAA1614-
-
-
-
3Gain-
KIAA2026-
-
-
-
3Gain-
KIF14-
-
-
-
3Gain-
KIF18A-
-
-
-
1Loss-
KIF1Ap.R529K
Missense
SNP
0.252
2--
KIF21B-
-
-
-
3Gain-
KIF24-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KISS1R-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF13-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLHDC4-
-
-
-
3Gain-
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL12-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL24-
-
-
-
3Gain-
KLHL36-
-
-
-
3Gain-
KLHL6-
-
-
-
3Gain-
KLHL9-
-
-
-
3Gain-
KLKB1-
-
-
-
1Loss-
KLLN-
-
-
-
3Gain-
KMO-
-
-
-
3Gain-
KMT2Dp.Q3907H
Missense
SNP
0.405
2--
KNDC1-
-
-
-
3Gain-
KNG1-
-
-
-
3Gain-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KPNA3-
-
-
-
1Loss-
KPNA4-
-
-
-
5Amp-
KPRP-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
3Gain-
KRTAP10-10-
-
-
-
3Gain-
KRTAP10-11-
-
-
-
3Gain-
KRTAP10-12-
-
-
-
3Gain-
KRTAP10-2-
-
-
-
3Gain-
KRTAP10-3-
-
-
-
3Gain-
KRTAP10-4-
-
-
-
3Gain-
KRTAP10-5-
-
-
-
3Gain-
KRTAP10-6-
-
-
-
3Gain-
KRTAP10-7-
-
-
-
3Gain-
KRTAP10-8-
-
-
-
3Gain-
KRTAP10-9-
-
-
-
3Gain-
KRTAP12-1-
-
-
-
3Gain-
KRTAP12-2-
-
-
-
3Gain-
KRTAP12-3-
-
-
-
3Gain-
KRTAP12-4-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KY-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LAD1-
-
-
-
3Gain-
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LARGE2-
-
-
-
1Loss-
LAX1-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LBX1-
-
-
-
3Gain-
LCA5L-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCMT2-
-
-
-
1Loss-
LCOR-
-
-
-
3Gain-
LCP1-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LDB1-
-
-
-
5Amp-
LDB3-
-
-
-
3Gain-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDHD-
-
-
-
3Gain-
LDLRAD3-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LEKR1-
-
-
-
5Amp-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LGALS8-
-
-
-
3Gain-
LGR4-
-
-
-
1Loss-
LGR6-
-
-
-
3Gain-
LHFPL6-
-
-
-
1Loss-
LHPP-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIFR-
-
-
-
3Gain-
LIG4-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINGO2-
-
-
-
3Gain-
LINGO3-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LIPF-
-
-
-
3Gain-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LIPJ-
-
-
-
3Gain-
LIX1L-
-
-
-
3Gain-
LMAN1-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LMBRD2-
-
-
-
3Gain-
LMLN-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD1-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LOR-
-
-
-
3Gain-
LOXHD1-
-
-
-
1Loss-
LOXL4-
-
-
-
4Gain-
LPAR6-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPGAT1-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LRCH1-
-
-
-
1Loss-
LRCH3-
-
-
-
3Gain-
LRFN5-
-
-
-
3Gain-
LRIT1-
-
-
-
3Gain-
LRIT2-
-
-
-
3Gain-
LRP2BP-
-
-
-
1Loss-
LRP4-
-
-
-
1Loss-
LRRC15-
-
-
-
3Gain-
LRRC19-
-
-
-
3Gain-
LRRC20-
-
-
-
2-TM9SF3--LRRC20
LRRC27-
-
-
-
3Gain-
LRRC3-
-
-
-
3Gain-
LRRC31-
-
-
-
6Amp-
LRRC34-
-
-
-
6Amp-
LRRC4C-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC56-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC63-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRIQ4-
-
-
-
6Amp-
LRRN2-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM11-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSS-
-
-
-
3Gain-
LTC4S-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LURAP1L-
-
-
-
3Gain-
LUZP2-
-
-
-
1Loss-
LXN-
-
-
-
5Amp-
LY9-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
1Loss-
LYST-
-
-
-
3Gain-
LYVE1-
-
-
-
1Loss-
LZTS2-
-
-
-
3Gain-
MAB21L1-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
3Gain-
MAGEC3p.E109D
Missense
SNP
0.343
NDND-
MAGEF1-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAML1-
-
-
-
1Loss-
MAML2p.R350K
Missense
SNP
0.493
2--
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
3Gain-
MAP1LC3C-
-
-
-
3Gain-
MAP3K13-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP6D1-
-
-
-
3Gain-
MAP9p.P634L
Missense
SNP
0.498
2--
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKBP1-
-
-
-
1Loss-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH11-
-
-
-
1Loss-
MARCH6-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARVELD1-
-
-
-
6Amp-
MARVELD3-
-
-
-
3Gain-
MASP1-
-
-
-
3Gain-
MAT2B-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBNL2-
-
-
-
1Loss-
MBOAT7p.R230S
Missense
SNP
0.542
2--
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
3Gain-
MC1R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCF2L-
-
-
-
1Loss-
MCF2L2-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM3AP-
-
-
-
3Gain-
MCM9p.E507D
Missense
SNP
0.994
2--
MDGA2p.R577H
Missense
SNP
0.456
2--
MDK-
-
-
-
1Loss-
MDM4-
-
-
-
3Gain-
ME2-
-
-
-
1Loss-
MECOM-
-
-
-
6Amp-
MED10-
-
-
-
1Loss-
MED12L-
-
-
-
3Gain-
MED16-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEIS2-
-
-
-
1Loss-
MELK-
-
-
-
3Gain-
MELTF-
-
-
-
3Gain-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL15-
-
-
-
1Loss-
METTL18p.L289P
Missense
SNP
0.304
3Gain-
METTL21C-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFN1-
-
-
-
3Gain-
MFSD1-
-
-
-
5Amp-
MFSD12-
-
-
-
1Loss-
MFSD13A-
-
-
-
5Amp-
MFSD4A-
-
-
-
3Gain-
MGA-
-
-
-
1Loss-
MGAT1-
-
-
-
1Loss-
MGAT4B-
-
-
-
1Loss-
MGMT-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MICAL2-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MINPP1-
-
-
-
3Gain-
MISP-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKI67-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MLANA-
-
-
-
3Gain-
MLF1-
-
-
-
5Amp-
MLKL-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLPHp.Y571C
Missense
SNP
0.484
2--
MLYCD-
-
-
-
3Gain-
MME-
-
-
-
5Amp-
MMP21-
-
-
-
3Gain-
MMP26-
-
-
-
1Loss-
MMRN2-
-
-
-
3Gain-
MMS19-
-
-
-
6Amp-
MNDA-
-
-
-
3Gain-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
3Gain-
MON1B-
-
-
-
3Gain-
MORC3-
-
-
-
3Gain-
MORN4-
-
-
-
6Amp-
MPC2-
-
-
-
3Gain-
MPDZ-
-
-
-
3Gain-
MPHOSPH6-
-
-
-
3Gain-
MPPED2-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRAS-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2B-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL17-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL43-
-
-
-
3Gain-
MRPL47-
-
-
-
3Gain-
MRPL54-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS22-
-
-
-
3Gain-
MRPS30-
-
-
-
3Gain-
MRPS31-
-
-
-
1Loss-
MRPS6-
-
-
-
3Gain-
MRVI1-
-
-
-
1Loss-
MSL2-
-
-
-
3Gain-
MSMP-
-
-
-
3Gain-
MSTO1-
-
-
-
3Gain-
MSX2-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MTAP-
-
-
-
3Gain-
MTCH2-
-
-
-
1Loss-
MTHFSD-
-
-
-
3Gain-
MTMR10-
-
-
-
1Loss-
MTMR12-
-
-
-
3Gain-
MTNR1A-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTRF1-
-
-
-
1Loss-
MTRR-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC15-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC20-
-
-
-
3Gain-
MUC4-
-
-
-
3Gain-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MVD-
-
-
-
3Gain-
MX1-
-
-
-
3Gain-
MX2-
-
-
-
3Gain-
MXD3-
-
-
-
1Loss-
MYBPC3-
-
-
-
1Loss-
MYBPH-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYH9p.K536N
Missense
SNP
0.518
2--
MYNN-
-
-
-
6Amp-
MYO10-
-
-
-
1Loss-
MYO16-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOD1-
-
-
-
1Loss-
MYOG-
-
-
-
3Gain-
MYORG-
-
-
-
3Gain-
MYPN-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAALADL2-
-
-
-
6Amp-
NADK2-
-
-
-
3Gain-
NALCN-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NAT10-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAV2-
-
-
-
1Loss-
NAXD-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEA-
-
-
-
1Loss-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCEH1-
-
-
-
6Amp-
NCF2-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCLN-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDFIP2-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFB5-
-
-
-
3Gain-
NDUFB6-
-
-
-
3Gain-
NDUFB8-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NDUFS3-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NDUFV3-
-
-
-
3Gain-
NECAB2-
-
-
-
3Gain-
NECTIN4-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
3Gain-
NEK5-
-
-
-
1Loss-
NEK7-
-
-
-
3Gain-
NELL1-
-
-
-
1Loss-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NEURL1-
-
-
-
7Amp-
NEURL1B-
-
-
-
1Loss-
NEUROG3-
-
-
-
3Gain-
NFASC-
-
-
-
3Gain-
NFATC1-
-
-
-
1Loss-
NFIB-
-
-
-
3Gain-
NFIC-
-
-
-
1Loss-
NFKB2-
-
-
-
5Amp-
NFX1-
-
-
-
3Gain-
NHLH1-
-
-
-
3Gain-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NID1-
-
-
-
3Gain-
NIM1K-
-
-
-
3Gain-
NIPAL4-
-
-
-
1Loss-
NIPBL-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKX1-2-
-
-
-
3Gain-
NKX2-3-
-
-
-
4Gain-
NKX2-5-
-
-
-
1Loss-
NKX6-2-
-
-
-
3Gain-
NLGN1-
-
-
-
6Amp-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NMBRp.R103C
Missense
SNP
0.520
2--
NMD3-
-
-
-
5Amp-
NME7-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NODAL-
-
-
-
1Loss-
NOL6-
-
-
-
3Gain-
NOLC1-
-
-
-
5Amp-
NOP10-
-
-
-
1Loss-
NOP16-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOS2p.R314H
Missense
SNP
0.543
2--
NOTCH2NLA-
-
-
-
3Gain-
NPHS2-
-
-
-
3Gain-
NPIPB15-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPM1-
-
-
-
1Loss-
NPM3-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NR1H3-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRAP-
-
-
-
3GainANXA11--NRAP
NRBF2-
-
-
-
1Loss-
NRG3-
-
-
-
3Gain-
NRIP3-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NSD1-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMCE3-
-
-
-
1Loss-
NSMCE4A-
-
-
-
4Gain-
NSUN2-
-
-
-
1Loss-
NT5C2-
-
-
-
5Amp-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUCB2-
-
-
-
1Loss-
NUCKS1-
-
-
-
3Gain-
NUDCD2-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT2-
-
-
-
3Gain-
NUDT4p.L99P
Missense
SNP
0.490
2--
NUDT4B-
-
-
-
3Gain-
NUDT7-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
1Loss-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP160-
-
-
-
1Loss-
NUP188p.T923A
Missense
SNP
0.521
2--
NUP210L-
-
-
-
3Gain-
NUP98-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NVL-
-
-
-
3Gain-
OAT-
-
-
-
3Gain-
OAZ1-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSCNp.A1783V
Missense
SNP
0.372
3Gain-
OCLM-
-
-
-
3Gain-
ODF3-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGA-
-
-
-
3Gain-
OIP5-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPALIN-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPN4-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR13J1-
-
-
-
3Gain-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AJ1-
-
-
-
5Amp-
OR2B11-
-
-
-
5Amp-
OR2C3-
-
-
-
5Amp-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2G2-
-
-
-
5Amp-
OR2G3-
-
-
-
5Amp-
OR2L8-
-
-
-
5Amp-
OR2S2-
-
-
-
3Gain-
OR2T8-
-
-
-
5Amp-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W3-
-
-
-
5Amp-
OR2Y1-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C15p.P314L
Missense
SNP
0.487
2--
OR4C3-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4K1-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4M1-
-
-
-
3Gain-
OR4N2-
-
-
-
3Gain-
OR4Q3-
-
-
-
3Gain-
OR4S1-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSGIN1-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OSTN-
-
-
-
3Gain-
OTOG-
-
-
-
1Loss-
OTOL1-
-
-
-
5Amp-
OTUD7A-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
1Loss-
OTULINL-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXGR1-
-
-
-
1Loss-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
PABPN1L-
-
-
-
3Gain-
PACSIN3-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAK2-
-
-
-
3Gain-
PAK6-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PAPPA2-
-
-
-
3Gain-
PAPSS2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR9-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PARP8-
-
-
-
3Gain-
PARVA-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PAX2-
-
-
-
3Gain-
PAX5-
-
-
-
3Gain-
PAX6-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCBP3-
-
-
-
3Gain-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH15-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA4p.R415H
Missense
SNP
0.641
2--
PCGF6-
-
-
-
5Amp-
PCID2-
-
-
-
1Loss-
PCNT-
-
-
-
3Gain-
PCNX2-
-
-
-
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCP4-
-
-
-
3Gain-
PCP4L1-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PCYT1A-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD10-
-
-
-
6Amp-
PDCD11-
-
-
-
5Amp-
PDCD1LG2-
-
-
-
3Gain-
PDCD4-
-
-
-
3Gain-
PDE3B-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE9A-
-
-
-
3Gain-
PDGFRBp.T88I
Missense
SNP
0.580
2--
PDHX-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA4p.D54H
Missense
SNP
0.531
2--
PDLIM1-
-
-
-
3Gain-
PDLIM3-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDXK-
-
-
-
3Gain-
PDZD2-
-
-
-
3Gain-
PDZD7-
-
-
-
3Gain-
PDZD8-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAK3-
-
-
-
1Loss-
PEAR1-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX14p.V313A
Missense
SNP
0.488
2--
PEX16-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX5L-
-
-
-
3Gain-
PFASp.V789A
Missense
SNP
0.496
2--
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKL-
-
-
-
3Gain-
PFN2-
-
-
-
3Gain-
PFN3-
-
-
-
1Loss-
PGAM1-
-
-
-
6Amp-
PGAP2-
-
-
-
1Loss-
PGBD4-
-
-
-
1Loss-
PGBD5-
-
-
-
3Gain-
PGGHG-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PHC3-
-
-
-
6Amp-
PHF11-
-
-
-
1Loss-
PHF21A-
-
-
-
1Loss-
PHF24-
-
-
-
3Gain-
PHGR1-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDA3-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
3Gain-
PHRF1-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI15p.A69T
Missense
SNP
0.520
2--
PI4K2A-
-
-
-
6Amp-
PI4KB-
-
-
-
3Gain-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
3Gain-
PIAS4-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
3Gain-
PIGP-
-
-
-
3Gain-
PIGR-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGZ-
-
-
-
3Gain-
PIK3AP1-
-
-
-
3Gain-
PIK3C2A-
-
-
-
1Loss-
PIK3C2B-
-
-
-
3Gain-
PIK3CAp.R93L
p.Y1021C
Missense
Missense
SNP
SNP
0.326
0.340
3Gain-
PIK3CB-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PITX3-
-
-
-
5Amp-
PKD1L2-
-
-
-
3Gain-
PKD1L3-
-
-
-
3Gain-
PKD2L1-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKNOX1-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PKP3-
-
-
-
1Loss-
PLA2G4A-
-
-
-
5Amp-
PLA2G4B-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLAA-
-
-
-
3Gain-
PLCB2-
-
-
-
1Loss-
PLCG2-
-
-
-
3Gain-
PLCH1-
-
-
-
5Amp-
PLCXD3-
-
-
-
3Gain-
PLD1-
-
-
-
6Amp-
PLD5-
-
-
-
3Gain-
PLEKHA1-
-
-
-
3Gain-
PLEKHA6-
-
-
-
3Gain-
PLEKHA7-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLEKHS1-
-
-
-
1Loss-
PLGRKT-
-
-
-
3Gain-
PLIN2-
-
-
-
3Gain-
PLK5-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLPP2-
-
-
-
1Loss-
PLPP4-
-
-
-
3Gain-
PLPP6-
-
-
-
3Gain-
PLPPR3-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXNA2-
-
-
-
3Gain-
PM20D1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNLIP-
-
-
-
3Gain-
PNLIPRP1-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
POFUT2-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLL-
-
-
-
3Gain-
POLR1E-
-
-
-
3Gain-
POLR2E-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR2L-
-
-
-
1Loss-
POLR3A-
-
-
-
4Gain-
POLR3C-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLRMT-
-
-
-
1Loss-
POSTN-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU4F1-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPIF-
-
-
-
4Gain-
PPIP5K1-
-
-
-
1Loss-
PPM1L-
-
-
-
5Amp-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R14D-
-
-
-
1Loss-
PPP1R15B-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R37p.R199H
Missense
SNP
0.509
2--
PPP2R2D-
-
-
-
3Gain-
PPP2R3A-
-
-
-
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPRC1-
-
-
-
5Amp-
PQLC1-
-
-
-
1Loss-
PQLC2L-
-
-
-
5Amp-
PRAP1-
-
-
-
3Gain-
PRCC-
-
-
-
3Gain-
PRDM11-
-
-
-
1Loss-
PRDM15-
-
-
-
3Gain-
PRDM7-
-
-
-
3Gain-
PRDM9-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELID1-
-
-
-
1Loss-
PRELP-
-
-
-
3Gain-
PRF1-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKCI-
-
-
-
6Amp-
PRKDCp.D3757G
Missense
SNP
0.495
2--
PRLR-
-
-
-
3Gain-
PRMT2-
-
-
-
3Gain-
PRMT3-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROSER1-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PROZ-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRR14Lp.I821T
Missense
SNP
0.484
2--
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR33-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRG4-
-
-
-
1Loss-
PRRX1-
-
-
-
3Gain-
PRSS3-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS57-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRXL2A-
-
-
-
3Gain-
PSAP-
-
-
-
1Loss-
PSD-
-
-
-
5Amp-
PSEN2-
-
-
-
3Gain-
PSIP1-
-
-
-
3Gain-
PSMA1-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMC3-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSMD2-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD7-
-
-
-
3Gain-
PSMG1-
-
-
-
3Gain-
PSTPIP2-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
3Gain-
PTGER4-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTPMT1-
-
-
-
1Loss-
PTPN14-
-
-
-
3Gain-
PTPN5-
-
-
-
1Loss-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRD-
-
-
-
3Gain-
PTPRE-
-
-
-
3Gain-
PTPRJ-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PTTG1IP-
-
-
-
3Gain-
PTX3-
-
-
-
5Amp-
PUM3-
-
-
-
3Gain-
PWP2-
-
-
-
3Gain-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
3Gain-
PXYLP1-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYROXD2-
-
-
-
4Gain-
QSER1-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
R3HCC1L-
-
-
-
4Gain-
R3HDM4-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB20-
-
-
-
1Loss-
RAB24-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB27B-
-
-
-
1Loss-
RAB29-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB6B-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RACK1-
-
-
-
1Loss-
RAD1-
-
-
-
3Gain-
RAD50p.I141L
Missense
SNP
0.698
2--
RAD51-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RANBP17-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
3Gain-
RAP2A-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPSN-
-
-
-
1Loss-
RARRES1-
-
-
-
5Amp-
RARS-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA3-
-
-
-
1Loss-
RASAL2-
-
-
-
3Gain-
RASGEF1C-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RASSF7-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBBP5-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBM10p.G165D
Missense
SNP
0.483
NDND-
RBM20-
-
-
-
3Gain-
RBM26-
-
-
-
1Loss-
RBM34-
-
-
-
3Gain-
RBM8A-
-
-
-
3Gain-
RBMXL2-
-
-
-
1Loss-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCAN1-
-
-
-
3Gain-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCL1-
-
-
-
3Gain-
RCN1-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RECK-
-
-
-
3Gain-
REEP3-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
REN-
-
-
-
3Gain-
RETREG1-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFWD3-
-
-
-
3Gain-
RFX3-
-
-
-
3Gain-
RFX5-
-
-
-
3Gain-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGP1-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGR-
-
-
-
3Gain-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS14-
-
-
-
1Loss-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOBTB1-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
1Loss-
RIC1-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RICTOR-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RIPK4-
-
-
-
3Gain-
RIPPLY3-
-
-
-
3Gain-
RIT1-
-
-
-
3Gain-
RITA1p.G174A
Missense
SNP
0.534
2--
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RMDN3-
-
-
-
1Loss-
RMND5B-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF126-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF130-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF166-
-
-
-
3Gain-
RNF168-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF219-
-
-
-
1Loss-
RNF38-
-
-
-
3Gain-
RNF44-
-
-
-
1Loss-
RNF7-
-
-
-
3Gain-
RNH1-
-
-
-
1Loss-
RNLS-
-
-
-
3Gain-
RNPEP-
-
-
-
3Gain-
ROPN1L-
-
-
-
1Loss-
RORC-
-
-
-
3Gain-
RPAP1-
-
-
-
1Loss-
RPEL1-
-
-
-
5Amp-
RPL13-
-
-
-
3Gain-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL22L1-
-
-
-
6Amp-
RPL26L1-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL37-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPLP2-
-
-
-
1Loss-
RPP25L-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS24-
-
-
-
4Gain-
RPS27-
-
-
-
3Gain-
RPS6-
-
-
-
3Gain-
RPS6KC1-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RPUSD2-
-
-
-
1Loss-
RRAGA-
-
-
-
3Gain-
RRAS2-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP1-
-
-
-
3Gain-
RRP12-
-
-
-
6Amp-
RRP15-
-
-
-
3Gain-
RRP1B-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RSPH1-
-
-
-
3Gain-
RSRC1-
-
-
-
5Amp-
RTF1-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUNX1-
-
-
-
3Gain-
RUSC1-
-
-
-
3Gain-
RUSC2-
-
-
-
3Gain-
RWDD4-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RXFP3-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYK-
-
-
-
3Gain-
RYR2-
-
-
-
3Gain-
RYR3-
-
-
-
1Loss-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100B-
-
-
-
3Gain-
S1PR4-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD7-
-
-
-
6Amp-
SAMD9Lp.K1514E
Missense
SNP
0.475
2--
SAXO1-
-
-
-
3Gain-
SBF2-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCCPDH-
-
-
-
3Gain-
SCD-
-
-
-
3Gain-
SCEL-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCHIP1-
-
-
-
5Amp-
SCN5Ap.E1225D
Missense
SNP
0.491
2--
SCNM1-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCYL3-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDR42E1-
-
-
-
3Gain-
SEC11C-
-
-
-
1Loss-
SEC16B-
-
-
-
3Gain-
SEC31B-
-
-
-
3Gain-
SEC62-
-
-
-
6Amp-
SECISBP2L-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOP-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA4G-
-
-
-
3Gain-
SEMA5A-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SERF2-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERINC4-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERP2-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPINE3-
-
-
-
1Loss-
SERPINI1-
-
-
-
6Amp-
SERPINI2-
-
-
-
6Amp-
SERTAD4-
-
-
-
3Gain-
SERTM1-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD1Ap.P595A
Missense
SNP
0.612
2--
SETD4-
-
-
-
3Gain-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SFR1-
-
-
-
6Amp-
SFRP5-
-
-
-
4Gain-
SFT2D2-
-
-
-
3Gain-
SFXN1-
-
-
-
1Loss-
SFXN2-
-
-
-
5Amp-
SFXN3-
-
-
-
3Gain-
SGCD-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D4B-
-
-
-
3Gain-
SH3BGR-
-
-
-
3Gain-
SH3GL2-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
7Amp-
SH3PXD2B-
-
-
-
1Loss-
SHB-
-
-
-
3Gain-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHC4-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHISA4-
-
-
-
3Gain-
SHLD2-
-
-
-
3Gain-
SHOC2-
-
-
-
3Gain-
SHOX2-
-
-
-
5Amp-
SI-
-
-
-
6Amp-
SIAH2-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIGMAR1-
-
-
-
3Gain-
SIK1-
-
-
-
3Gain-
SIK1B-
-
-
-
3Gain-
SIM2-
-
-
-
3Gain-
SIMC1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIRT1-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIT1-
-
-
-
3Gain-
SKA1-
-
-
-
1Loss-
SKIL-
-
-
-
6Amp-
SKOR2-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLAIN1-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A2-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A6-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC16A9-
-
-
-
1Loss-
SLC17A6-
-
-
-
1Loss-
SLC18A2-
-
-
-
1Loss-
SLC19A1-
-
-
-
3Gain-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
3Gain-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
3Gain-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A31-
-
-
-
3Gain-
SLC24A2-
-
-
-
3Gain-
SLC24A5-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A16-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A25p.R462Q
Missense
SNP
0.478
2--
SLC25A28-
-
-
-
4Gain-
SLC25A30-
-
-
-
1Loss-
SLC25A36-
-
-
-
3Gain-
SLC25A4-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A45p.R93W
Missense
SNP
0.564
2--
SLC25A51-
-
-
-
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A2-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC28A2-
-
-
-
1Loss-
SLC29A3-
-
-
-
1Loss-
SLC2A2-
-
-
-
6Amp-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A4-
-
-
-
1Loss-
SLC33A1-
-
-
-
5Amp-
SLC34A1-
-
-
-
1Loss-
SLC35C1-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35G2-
-
-
-
3Gain-
SLC37A1-
-
-
-
3Gain-
SLC38A8-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A13-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC41A1-
-
-
-
3Gain-
SLC41A2p.D36N
Missense
SNP
0.505
2--
SLC45A2-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
3Gain-
SLC5A12-
-
-
-
1Loss-
SLC5A3-
-
-
-
3Gain-
SLC6A5-
-
-
-
1Loss-
SLC7A14-
-
-
-
6Amp-
SLC7A5-
-
-
-
3Gain-
SLC9A9-
-
-
-
3Gain-
SLC9C2-
-
-
-
3Gain-
SLCO2A1-
-
-
-
3Gain-
SLF2-
-
-
-
3Gain-
SLIT1-
-
-
-
6Amp-
SLIT2p.K1476N
Missense
SNP
0.220
2--
SLIT3-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK3-
-
-
-
6Amp-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLK-
-
-
-
7Amp-
SLU7-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMARCA2-
-
-
-
3Gain-
SMC4-
-
-
-
5Amp-
SMCO1-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMIM11A-
-
-
-
3Gain-
SMIM11B-
-
-
-
3Gain-
SMIM2-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM27-
-
-
-
3Gain-
SMIM34A-
-
-
-
3Gain-
SMIM34B-
-
-
-
3Gain-
SMPD1-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI3-
-
-
-
3Gain-
SNAP23-
-
-
-
1Loss-
SNAP47-
-
-
-
3Gain-
SNAPC3-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNCB-
-
-
-
1Loss-
SNCG-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNX25-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOCS6-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORBS1-
-
-
-
3Gain-
SORBS2-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS3-
-
-
-
4Gain-
SORD-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX13-
-
-
-
3Gain-
SOX14-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SPAAR-
-
-
-
3Gain-
SPACA7-
-
-
-
1Loss-
SPAG4p.D115V
Missense
SNP
0.496
2--
SPAG8-
-
-
-
3Gain-
SPART-
-
-
-
1Loss-
SPATA16-
-
-
-
6Amp-
SPATA17-
-
-
-
3Gain-
SPATA2L-
-
-
-
3Gain-
SPATA33-
-
-
-
3Gain-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA5L1-
-
-
-
1Loss-
SPATA6L-
-
-
-
3Gain-
SPATC1L-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPDL1-
-
-
-
1Loss-
SPEF2-
-
-
-
3Gain-
SPERT-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG7-
-
-
-
3Gain-
SPHAR-
-
-
-
3Gain-
SPI1-
-
-
-
1Loss-
SPINK4-
-
-
-
3Gain-
SPINT1-
-
-
-
1Loss-
SPIRE2-
-
-
-
3Gain-
SPOCK2-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB4-
-
-
-
3Gain-
SPTA1-
-
-
-
3Gain-
SPTBN5-
-
-
-
1Loss-
SPTSSB-
-
-
-
5Amp-
SPTY2D1-
-
-
-
1Loss-
SQOR-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SRD5A1-
-
-
-
1Loss-
SRGAP2-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRPRB-
-
-
-
3Gain-
SRSF12p.R160W
Missense
SNP
0.489
2--
SSR2-
-
-
-
3Gain-
SSR3-
-
-
-
5Amp-
SST-
-
-
-
3Gain-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GAL1-
-
-
-
3Gain-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STARD13-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STIM1-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK32C-
-
-
-
3Gain-
STK33-
-
-
-
1Loss-
STN1-
-
-
-
7Amp-
STOML2-
-
-
-
3Gain-
STOML3-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STRC-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
SUB1-
-
-
-
3Gain-
SUCLA2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUFU-
-
-
-
5Amp-
SUGT1-
-
-
-
1Loss-
SUMO3-
-
-
-
3Gain-
SUPT20H-
-
-
-
1Loss-
SUSD4-
-
-
-
3Gain-
SVIP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYCE1L-
-
-
-
3Gain-
SYCP2p.R506P
Missense
SNP
0.483
2--
SYT11-
-
-
-
3Gain-
SYT13-
-
-
-
1Loss-
SYT14-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYT4-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL3p.F318C
Missense
SNP
0.453
2--
TACC2p.S1358T
Missense
SNP
0.735
4Gain-
TADA1-
-
-
-
3Gain-
TAF10-
-
-
-
1Loss-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
3Gain-
TAF1L-
-
-
-
3Gain-
TAF5-
-
-
-
5Amp-
TAF5L-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TANC2p.L936V
Missense
SNP
0.444
2--
TARBP1-
-
-
-
3Gain-
TARS-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS2R1-
-
-
-
1Loss-
TAT-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TBATA-
-
-
-
1Loss-
TBC1D4-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBL1XR1-
-
-
-
3Gain-
TBX19-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TCERG1L-
-
-
-
3Gain-
TCF25-
-
-
-
3Gain-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7L2-
-
-
-
3Gain-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCP11L1-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TCTN3-
-
-
-
3Gain-
TDRD10-
-
-
-
3Gain-
TDRD3-
-
-
-
1Loss-
TDRD5-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TEAD1-
-
-
-
1Loss-
TECTB-
-
-
-
3Gain-
TEDDM1-
-
-
-
3Gain-
TEK-
-
-
-
3Gain-
TENM2-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TENM4p.R2214C
Missense
SNP
0.555
2--
TENT4A-
-
-
-
1Loss-
TEP1p.A839V
Missense
SNP
0.453
2--
TERB2-
-
-
-
1Loss-
TERF2IP-
-
-
-
3Gain-
TESK1-
-
-
-
3Gain-
TET1-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX36-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TF-
-
-
-
3Gain-
TFAM-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFDP1-
-
-
-
1Loss-
TFDP2-
-
-
-
3Gain-
TFF1-
-
-
-
3Gain-
TFF2-
-
-
-
3Gain-
TFF3-
-
-
-
3Gain-
TFRC-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFB2-
-
-
-
3Gain-
TGM4p.I493V
Missense
SNP
0.471
2--
TGM5-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THBS1-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THG1L-
-
-
-
1Loss-
THOC1p.I58M
Missense
SNP
0.600
2--
THOC2p.E1452*
Nonsense
SNP
0.418
NDND-
THOC3-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THSD1-
-
-
-
1Loss-
TIGD2p.G38D
Missense
SNP
0.504
2--
TIMD4-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIPARP-
-
-
-
5Amp-
TIPRL-
-
-
-
3Gain-
TJP1-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TLDC1-
-
-
-
3Gain-
TLE2-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLE7-
-
-
-
3Gain-
TLL2-
-
-
-
3Gain-
TLN1-
-
-
-
3Gain-
TLN2p.S1217I
Missense
SNP
0.494
2--
TLR3-
-
-
-
1Loss-
TLR5-
-
-
-
3Gain-
TLX1-
-
-
-
3Gain-
TLX3-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM9SF2-
-
-
-
1Loss-
TM9SF3-
-
-
-
3GainTM9SF3--LRRC20
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMCO5A-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEM132Cp.A360V
Missense
SNP
0.565
2--
TMEM170A-
-
-
-
3Gain-
TMEM183A-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM207-
-
-
-
3Gain-
TMEM212-
-
-
-
6Amp-
TMEM215-
-
-
-
3Gain-
TMEM231-
-
-
-
3Gain-
TMEM255B-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM41B-
-
-
-
1Loss-
TMEM44-
-
-
-
3Gain-
TMEM62-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM81-
-
-
-
3Gain-
TMEM86A-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM8B-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMEM9B-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPRSS2-
-
-
-
3Gain-
TMPRSS3-
-
-
-
3Gain-
TMPRSS9p.T82M
Missense
SNP
1.000
1Loss-
TMTC4-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFSF10-
-
-
-
6Amp-
TNFSF11-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIK-
-
-
-
6Amp-
TNK2-
-
-
-
3Gain-
TNN-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNI2-
-
-
-
1Loss-
TNNT2-
-
-
-
3Gain-
TNNT3-
-
-
-
1Loss-
TNR-
-
-
-
3Gain-
TNRC6Bp.A334V
Missense
SNP
0.510
2--
TNXBp.E2785K
Missense
SNP
0.528
1Loss-
TOLLIP-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOMM5-
-
-
-
3Gain-
TOP2Bp.G741D
Missense
SNP
0.528
2--
TOPBP1-
-
-
-
3Gain-
TOPORS-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TP53p.T256P
p.Q144P
Missense
Missense
SNP
SNP
0.446
0.545
2--
TP53BP1-
-
-
-
1Loss-
TP53BP2-
-
-
-
3Gain-
TP53I11-
-
-
-
1Loss-
TP63-
-
-
-
3Gain-
TPD52L3-
-
-
-
3Gain-
TPGS1-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPM2-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPT1-
-
-
-
1Loss-
TRA2B-
-
-
-
3Gain-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAF6-
-
-
-
1Loss-
TRAPPC10-
-
-
-
3Gain-
TRAPPC11-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM41-
-
-
-
1Loss-
TRIM42-
-
-
-
3Gain-
TRIM44-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM49B-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM52-
-
-
-
1Loss-
TRIM58-
-
-
-
5Amp-
TRIM59-
-
-
-
5Amp-
TRIM6p.P502T
Missense
SNP
0.355
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM8-
-
-
-
5Amp-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
1Loss-
TRMT10B-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TROVE2-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPC4-
-
-
-
1Loss-
TRPM1-
-
-
-
1Loss-
TRPM2-
-
-
-
3Gain-
TRPM5-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPV3p.S518L
Missense
SNP
0.482
2--
TRUB1-
-
-
-
1Loss-
TSACC-
-
-
-
3Gain-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSG101-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN14-
-
-
-
3Gain-
TSPAN17-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPEAR-
-
-
-
3Gain-
TSSC4-
-
-
-
1Loss-
TSTD1-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC14-
-
-
-
3Gain-
TTC17-
-
-
-
1Loss-
TTC23L-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC3-
-
-
-
3Gain-
TTC33-
-
-
-
3Gain-
TTC39B-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBB3-
-
-
-
3Gain-
TUBGCP2-
-
-
-
3Gain-
TUBGCP3p.M711T
Missense
SNP
1.000
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TUSC1-
-
-
-
3Gain-
TWNK-
-
-
-
3Gain-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
3Gain-
TYRO3-
-
-
-
1Loss-
TYRP1-
-
-
-
3Gain-
U2AF1-
-
-
-
3Gain-
U2AF1L5-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBAP1-
-
-
-
3Gain-
UBAP2-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBASH3A-
-
-
-
3Gain-
UBE2D1-
-
-
-
1Loss-
UBE2G2-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2QL1-
-
-
-
1Loss-
UBE2R2-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBLCP1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
1Loss-
UBR4p.Q3683P
Missense
SNP
0.415
2--
UBTD1-
-
-
-
6Amp-
UBTD2-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UCHL3-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UEVLD-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UFM1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UHRF1BP1L-
-
-
-
1Loss-
UHRF2-
-
-
-
3Gain-
UIMC1-
-
-
-
1Loss-
UMODL1-
-
-
-
3Gain-
UNC13B-
-
-
-
3Gain-
UNC5A-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
UROS-
-
-
-
3Gain-
USF1-
-
-
-
3Gain-
USH1C-
-
-
-
1Loss-
USH2A-
-
-
-
3Gain-
USP10-
-
-
-
3Gain-
USP13-
-
-
-
3Gain-
USP21-
-
-
-
3Gain-
USP47-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
UTF1-
-
-
-
3Gain-
UTP14C-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTS2B-
-
-
-
3Gain-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VAT1L-
-
-
-
3Gain-
VCP-
-
-
-
3Gain-
VDRp.A317V
Missense
SNP
0.420
2--
VENTX-
-
-
-
3Gain-
VEPH1-
-
-
-
5Amp-
VHLL-
-
-
-
3Gain-
VLDLR-
-
-
-
3Gain-
VPS18-
-
-
-
1Loss-
VPS26C-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS51p.R404L
Missense
SNP
0.513
2--
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VPS9D1-
-
-
-
3Gain-
VSIG8-
-
-
-
3Gain-
VSIR-
-
-
-
1Loss-
VTI1A-
-
-
-
3Gain-
VWA3Ap.S1166Y
Missense
SNP
0.455
2--
VWA5B2-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
WAPL-
-
-
-
3Gain-
WBP1L-
-
-
-
5Amp-
WBP4-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDR11-
-
-
-
3Gain-
WDR18-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR4-
-
-
-
3Gain-
WDR49-
-
-
-
6Amp-
WDR53-
-
-
-
3Gain-
WDR59-
-
-
-
3Gain-
WDR64p.S265A
Missense
SNP
0.656
3Gain-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR87p.R2776W
Missense
SNP
0.495
2--
WEE1-
-
-
-
1Loss-
WFDC1-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
WNT8B-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
WRB-
-
-
-
3Gain-
WRB-SH3BGR-
-
-
-
3Gain-
WT1-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWOX-
-
-
-
3Gain-
WWTR1-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XPR1-
-
-
-
3Gain-
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
YBEY-
-
-
-
3Gain-
YEATS2-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBBX-
-
-
-
6Amp-
ZBED5-
-
-
-
1Loss-
ZBED6-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBTB18-
-
-
-
3Gain-
ZBTB21-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB38-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB5-
-
-
-
3Gain-
ZBTB7A-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZC3H11A-
-
-
-
3Gain-
ZC3H13-
-
-
-
1Loss-
ZC3H18-
-
-
-
3Gain-
ZCCHC11p.D1549N
Missense
SNP
0.266
NDND-
ZCCHC14-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC24-
-
-
-
4Gain-
ZCCHC7-
-
-
-
3Gain-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
6Amp-
ZDHHC19-
-
-
-
3Gain-
ZDHHC21-
-
-
-
3Gain-
ZDHHC6-
-
-
-
3Gain-
ZDHHC7-
-
-
-
3Gain-
ZFHX3-
-
-
-
3Gain-
ZFP1-
-
-
-
3Gain-
ZFP2-
-
-
-
1Loss-
ZFP42-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFPM1-
-
-
-
3Gain-
ZFR-
-
-
-
3Gain-
ZFR2-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE27-
-
-
-
6Amp-
ZIC1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC4-
-
-
-
3Gain-
ZIC5-
-
-
-
1Loss-
ZMAT3-
-
-
-
3Gain-
ZMIZ1-
-
-
-
4Gain-
ZMYM4p.Q311H
Missense
SNP
0.442
2--
ZNF106-
-
-
-
1Loss-
ZNF131-
-
-
-
3Gain-
ZNF143-
-
-
-
1Loss-
ZNF19-
-
-
-
3Gain-
ZNF195-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF23-
-
-
-
3Gain-
ZNF236-
-
-
-
1Loss-
ZNF276-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF346-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF454-
-
-
-
1Loss-
ZNF469-
-
-
-
3Gain-
ZNF511-
-
-
-
3Gain-
ZNF511-PRAP1-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF518A-
-
-
-
3Gain-
ZNF532-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF622-
-
-
-
1Loss-
ZNF639-
-
-
-
3Gain-
ZNF644p.Y607C
Missense
SNP
0.554
2--
ZNF648-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF761p.K590E
Missense
SNP
0.416
2--
ZNF77-
-
-
-
1Loss-
ZNF770-
-
-
-
1Loss-
ZNF778-
-
-
-
3Gain-
ZNF821-
-
-
-
3Gain-
ZNF879-
-
-
-
1Loss-
ZNRF1-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZRANB1-
-
-
-
3Gain-
ZSCAN18p.G84R
Missense
SNP
0.529
2--
ZSCAN29-
-
-
-
1Loss-
ZWINT-
-
-
-
1Loss-