WU-0033-T1-X1P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AAR2-
-
-
-
4Gain-
AASS-
-
-
-
4Gain-
ABAT-
-
-
-
4Gain-
ABCA1-
-
-
-
4Gain-
ABCA13-
-
-
-
4Gain-
ABCA2-
-
-
-
3Gain-
ABCA3-
-
-
-
4Gain-
ABCB1-
-
-
-
4Gain-
ABCB10-
-
-
-
4Gain-
ABCB4-
-
-
-
4Gain-
ABCB5-
-
-
-
4Gain-
ABCB8-
-
-
-
4Gain-
ABCC1-
-
-
-
4Gain-
ABCC6-
-
-
-
4Gain-
ABCD4-
-
-
-
4Gain-
ABCF2-
-
-
-
4Gain-
ABHD11-
-
-
-
5Amp-
ABHD12-
-
-
-
4Gain-
ABHD12B-
-
-
-
4Gain-
ABHD16B-
-
-
-
4Gain-
ABHD17B-
-
-
-
4Gain-
ABHD4-
-
-
-
3Gain-
ABL1-
-
-
-
3Gain-
ABL2-
-
-
-
4Gain-
ABO-
-
-
-
4Gain-
AC000120.2-
-
-
-
4Gain-
AC000120.3-
-
-
-
4Gain-
AC002310.4-
-
-
-
3Gain-
AC002310.5-
-
-
-
3Gain-
AC004080.3-
-
-
-
4Gain-
AC004593.3-
-
-
-
4Gain-
AC004691.2-
-
-
-
4Gain-
AC004754.1-
-
-
-
4Gain-
AC005154.5-
-
-
-
4Gain-
AC005520.1-
-
-
-
4Gain-
AC006978.2-
-
-
-
4Gain-
AC007375.1-
-
-
-
4Gain-
AC009086.2-
-
-
-
3Gain-
AC009133.6-
-
-
-
3Gain-
AC010132.3-
-
-
-
4Gain-
AC011005.1-
-
-
-
3Gain-
AC019117.2-
-
-
-
4Gain-
AC021097.2-
-
-
-
4Gain-
AC025283.2-
-
-
-
4Gain-
AC025283.3-
-
-
-
4Gain-
AC027644.4-
-
-
-
5Amp-
AC068533.4-
-
-
-
5Amp-
AC073111.3-
-
-
-
4Gain-
AC090358.1-
-
-
-
NDNDAC090358.1--CDH7
AC092017.3-
-
-
-
4Gain-
AC092647.5-
-
-
-
3Gain-
AC093512.2-
-
-
-
3Gain-
AC093525.1-
-
-
-
4Gain-
AC093525.2-
-
-
-
4Gain-
AC099489.1-
-
-
-
4Gain-
AC106886.5-
-
-
-
3Gain-
AC115220.1-
-
-
-
5Amp-
AC120114.4-
-
-
-
3Gain-
AC126755.2-
-
-
-
5Amp-
AC135050.2-
-
-
-
3Gain-
AC138811.2-
-
-
-
3Gain-
AC138894.1-
-
-
-
5Amp-
AC140504.1-
-
-
-
4Gain-
AC187653.1-
-
-
-
4Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
ACBD3-
-
-
-
4Gain-
ACBD6-
-
-
-
4Gain-
ACER2-
-
-
-
3Gain-
ACIN1-
-
-
-
3Gain-
ACKR1-
-
-
-
4Gain-
ACO1-
-
-
-
3Gain-
ACOT1-
-
-
-
4Gain-
ACOT2-
-
-
-
4Gain-
ACOT4-
-
-
-
4Gain-
ACOT6-
-
-
-
4Gain-
ACOT8-
-
-
-
4Gain-
ACP6-
-
-
-
5Amp-
ACSM1-
-
-
-
6Amp-
ACSM2A-
-
-
-
6Amp-
ACSM2B-
-
-
-
6Amp-
ACSM3-
-
-
-
4Gain-
ACSM5-
-
-
-
3Gain-
ACSS1-
-
-
-
4Gain-
ACSS2-
-
-
-
4Gain-
ACTA1-
-
-
-
4Gain-
ACTB-
-
-
-
4Gain-
ACTL10-
-
-
-
4Gain-
ACTL7A-
-
-
-
4Gain-
ACTL7B-
-
-
-
4Gain-
ACTN1-
-
-
-
4Gain-
ACTN2-
-
-
-
4Gain-
ACTR10-
-
-
-
4Gain-
ACTR3B-
-
-
-
4Gain-
ACTR3C-
-
-
-
4Gain-
ACTR5-
-
-
-
4Gain-
ACYP1-
-
-
-
4Gain-
ADA-
-
-
-
4Gain-
ADAM15-
-
-
-
4Gain-
ADAM20-
-
-
-
4Gain-
ADAM21-
-
-
-
4Gain-
ADAM22-
-
-
-
4Gain-
ADAM33-
-
-
-
3Gain-
ADAMTS13-
-
-
-
4Gain-
ADAMTS16p.S1170L
Missense
SNP
1.000
2--
ADAMTS4-
-
-
-
4Gain-
ADAMTSL1-
-
-
-
4Gain-
ADAMTSL2-
-
-
-
4Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAP1-
-
-
-
4Gain-
ADAR-
-
-
-
4Gain-
ADCK1-
-
-
-
4Gain-
ADCK2-
-
-
-
4Gain-
ADCY1-
-
-
-
4Gain-
ADCY10-
-
-
-
4Gain-
ADCY4-
-
-
-
4Gain-
ADCY9-
-
-
-
4Gain-
ADCYAP1R1-
-
-
-
4Gain-
ADIG-
-
-
-
4Gain-
ADIPOR1-
-
-
-
5Amp-
ADNP-
-
-
-
4Gain-
ADORA1-
-
-
-
5Amp-
ADPRHL2p.G119E
Missense
SNP
1.000
2--
ADRA1D-
-
-
-
3Gain-
ADRM1-
-
-
-
4Gain-
ADSS-
-
-
-
4Gain-
ADSSL1-
-
-
-
4Gain-
AEBP1-
-
-
-
4Gain-
AGAP3-
-
-
-
4Gain-
AGBL3-
-
-
-
4Gain-
AGK-
-
-
-
4Gain-
AGMO-
-
-
-
4Gain-
AGO1p.Q831H
Missense
SNP
1.000
2--
AGPAT2-
-
-
-
3Gain-
AGR2-
-
-
-
4Gain-
AGR3-
-
-
-
4Gain-
AGT-
-
-
-
4Gain-
AGTPBP1-
-
-
-
4Gain-
AHCTF1-
-
-
-
4Gain-
AHCY-
-
-
-
4Gain-
AHCYL2-
-
-
-
3Gain-
AHNAK2-
-
-
-
4Gain-
AHR-
-
-
-
4Gain-
AHSA1-
-
-
-
4Gain-
AHSP-
-
-
-
4Gain-
AIDA-
-
-
-
4Gain-
AIF1L-
-
-
-
3Gain-
AIM2-
-
-
-
4Gain-
AIMP2-
-
-
-
4Gain-
AJUBA-
-
-
-
3Gain-
AK1-
-
-
-
3Gain-
AK3-
-
-
-
3Gain-
AK7-
-
-
-
4Gain-
AK8-
-
-
-
4Gain-
AKAP2-
-
-
-
4Gain-
AKAP5-
-
-
-
4Gain-
AKAP6-
-
-
-
4Gain-
AKAP9-
-
-
-
4Gain-
AKNA-
-
-
-
3Gain-
AKR1B1-
-
-
-
4Gain-
AKR1B10-
-
-
-
4Gain-
AKR1B15-
-
-
-
4Gain-
AKR1D1-
-
-
-
4Gain-
AKT1-
-
-
-
4Gain-
AKT3-
-
-
-
4Gain-
AL031708.1-
-
-
-
4Gain-
AL035460.1-
-
-
-
4Gain-
AL049634.2-
-
-
-
4Gain-
AL049650.1-
-
-
-
4Gain-
AL049779.1-
-
-
-
4Gain-
AL049839.2-
-
-
-
4Gain-
AL096870.1-
-
-
-
4Gain-
AL109827.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
4Gain-
AL117348.2-
-
-
-
4Gain-
AL121594.1-
-
-
-
4Gain-
AL121722.1-
-
-
-
4Gain-
AL121753.1-
-
-
-
4Gain-
AL121758.1-
-
-
-
4Gain-
AL121845.2-
-
-
-
4Gain-
AL121845.3-
-
-
-
4Gain-
AL121900.2-
-
-
-
4Gain-
AL132780.3-
-
-
-
3Gain-
AL133410.3-
-
-
-
3Gain-
AL136295.1-
-
-
-
3Gain-
AL136295.3-
-
-
-
3Gain-
AL136295.4-
-
-
-
3Gain-
AL136295.5-
-
-
-
3Gain-
AL136531.2-
-
-
-
4Gain-
AL138752.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
4Gain-
AL139099.4-
-
-
-
NDNDRN7SK--AL139099.4
AL139099.4--AL355075.4
AL139099.4--RPPH1
AL355075.4--AL139099.4
RPPH1--AL139099.4
AL139142.2-
-
-
-
4Gain-
AL139300.1-
-
-
-
4Gain-
AL139353.1-
-
-
-
4Gain-
AL157935.2-
-
-
-
3Gain-
AL160269.1-
-
-
-
4Gain-
AL160272.2-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL162417.1-
-
-
-
4Gain-
AL163195.3-
-
-
-
3Gain-
AL163636.2-
-
-
-
3Gain-
AL355075.4-
-
-
-
NDNDAL139099.4--AL355075.4
RN7SL1--AL355075.4
AL355075.4--AL139099.4
AL355075.4--RN7SL1
AL355102.2-
-
-
-
4Gain-
AL355916.2-
-
-
-
4Gain-
AL355987.1-
-
-
-
3Gain-
AL355987.3-
-
-
-
3Gain-
AL358113.1-
-
-
-
4Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
3Gain-
AL512785.2-
-
-
-
4Gain-
AL513165.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
4Gain-
AL591806.3-
-
-
-
4Gain-
AL672142.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
4Gain-
AL713999.1-
-
-
-
4Gain-
AL807752.6-
-
-
-
3Gain-
AL807752.7-
-
-
-
3Gain-
AL928654.3-
-
-
-
4Gain-
AL929554.1-
-
-
-
3Gain-
ALAD-
-
-
-
4Gain-
ALDH1A1-
-
-
-
4Gain-
ALDH1B1-
-
-
-
3Gain-
ALDH6A1-
-
-
-
4Gain-
ALDH9A1-
-
-
-
4Gain-
ALDOA-
-
-
-
3Gain-
ALDOB-
-
-
-
4Gain-
ALG1-
-
-
-
4Gain-
ALG2-
-
-
-
4Gain-
ALKBH1-
-
-
-
4Gain-
AMBP-
-
-
-
4Gain-
AMDHD2-
-
-
-
4Gain-
AMN-
-
-
-
4Gain-
AMPH-
-
-
-
4Gain-
AMZ1-
-
-
-
4Gain-
ANAPC2-
-
-
-
3Gain-
ANG-
-
-
-
3Gain-
ANGEL1-
-
-
-
4Gain-
ANGEL2-
-
-
-
4Gain-
ANGPT4-
-
-
-
4Gain-
ANGPTL1-
-
-
-
4Gain-
ANGPTL2-
-
-
-
3Gain-
ANKEF1-
-
-
-
4Gain-
ANKIB1-
-
-
-
4Gain-
ANKMY2-
-
-
-
4Gain-
ANKRD18A-
-
-
-
5Amp-
ANKRD18B-
-
-
-
3Gain-
ANKRD20A1p.E656K
Missense
SNP
0.266
4Gain-
ANKRD20A2-
-
-
-
5Amp-
ANKRD20A3-
-
-
-
4Gain-
ANKRD20A4-
-
-
-
4Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD45-
-
-
-
4Gain-
ANKRD60-
-
-
-
4Gain-
ANKRD61-
-
-
-
4Gain-
ANKRD7-
-
-
-
4Gain-
ANKRD9-
-
-
-
4Gain-
ANKS3-
-
-
-
4Gain-
ANKS4B-
-
-
-
4Gain-
ANKS6-
-
-
-
4Gain-
ANLN-
-
-
-
4Gain-
ANP32B-
-
-
-
4Gain-
ANP32E-
-
-
-
3Gain-
ANXA1-
-
-
-
4Gain-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
4Gain-
AOC1-
-
-
-
4Gain-
AP1G2-
-
-
-
5Amp-
AP4S1-
-
-
-
4Gain-
AP5M1-
-
-
-
4Gain-
AP5S1-
-
-
-
3Gain-
AP5Z1-
-
-
-
4Gain-
APBA1-
-
-
-
4Gain-
APCDD1L-
-
-
-
4Gain-
APCS-
-
-
-
4Gain-
APEX1-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APMAP-
-
-
-
4Gain-
APOA2-
-
-
-
4Gain-
APOBEC4-
-
-
-
4Gain-
APOBR-
-
-
-
3Gain-
APOL2p.E252K
Missense
SNP
1.000
2--
APOPT1-
-
-
-
4Gain-
APTX-
-
-
-
3Gain-
AQP1-
-
-
-
4Gain-
AQP10-
-
-
-
4Gain-
AQP3-
-
-
-
3Gain-
AQP7-
-
-
-
3Gain-
AQP8-
-
-
-
4Gain-
AREL1-
-
-
-
4Gain-
ARF1-
-
-
-
4Gain-
ARF5-
-
-
-
4Gain-
ARF6-
-
-
-
4Gain-
ARFGAP1-
-
-
-
4Gain-
ARFGEF2-
-
-
-
4Gain-
ARFRP1-
-
-
-
4Gain-
ARG2-
-
-
-
4Gain-
ARGFX-
-
-
-
1Loss-
ARHGAP17-
-
-
-
4Gain-
ARHGAP30-
-
-
-
4Gain-
ARHGAP40-
-
-
-
4Gain-
ARHGAP5-
-
-
-
4Gain-
ARHGDIG-
-
-
-
4Gain-
ARHGEF11-
-
-
-
4Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF35-
-
-
-
4Gain-
ARHGEF39-
-
-
-
3Gain-
ARHGEF40p.E239Q
Missense
SNP
0.519
3Gain-
ARHGEF5-
-
-
-
4Gain-
ARID3C-
-
-
-
3Gain-
ARID4A-
-
-
-
4Gain-
ARID4B-
-
-
-
4Gain-
ARL4A-
-
-
-
4Gain-
ARL6IP1-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARMC5-
-
-
-
4Gain-
ARMH4-
-
-
-
4Gain-
ARNT-
-
-
-
3Gain-
ARPC5-
-
-
-
4Gain-
ARPC5L-
-
-
-
3Gain-
ARRDC1-
-
-
-
3Gain-
ARV1-
-
-
-
4Gain-
ASB10p.E36Q
Missense
SNP
0.568
4Gain-
ASB15-
-
-
-
4Gain-
ASB2-
-
-
-
4Gain-
ASB6p.E31K
Missense
SNP
0.475
3Gain-
ASCL5-
-
-
-
3Gain-
ASH1L-
-
-
-
3Gain-
ASIC3-
-
-
-
4Gain-
ASIP-
-
-
-
4Gain-
ASL-
-
-
-
5Amp-
ASPG-
-
-
-
4Gain-
ASPHD1-
-
-
-
3Gain-
ASPM-
-
-
-
4Gain-
ASPN-
-
-
-
4Gain-
ASS1-
-
-
-
3Gain-
ASTN1-
-
-
-
4Gain-
ASTN2p.S180C
Missense
SNP
0.466
3Gain-
ASUNp.S392Y
Missense
SNP
1.000
NDND-
ASXL1-
-
-
-
4Gain-
ASZ1-
-
-
-
4Gain-
ATF3-
-
-
-
4Gain-
ATF6-
-
-
-
4Gain-
ATF7IP2-
-
-
-
4Gain-
ATG14-
-
-
-
4Gain-
ATG2B-
-
-
-
4Gain-
ATG4Ap.I236M
Missense
SNP
0.470
NDND-
ATG4Cp.Q97E
Missense
SNP
1.000
2--
ATG9B-
-
-
-
4Gain-
ATL1-
-
-
-
4Gain-
ATP1A2-
-
-
-
4Gain-
ATP1A4-
-
-
-
4Gain-
ATP1B1-
-
-
-
4Gain-
ATP2A1-
-
-
-
3Gain-
ATP2B4-
-
-
-
5Amp-
ATP5F1E-
-
-
-
4Gain-
ATP5MPL-
-
-
-
4Gain-
ATP5S-
-
-
-
4Gain-
ATP6V0A4-
-
-
-
4Gain-
ATP6V0C-
-
-
-
4Gain-
ATP6V0E2-
-
-
-
4Gain-
ATP6V1D-
-
-
-
4Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G1-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
4Gain-
ATP8B2-
-
-
-
4Gain-
ATP9A-
-
-
-
4Gain-
ATRN-
-
-
-
3Gain-
ATXN2L-
-
-
-
5Amp-
ATXN3-
-
-
-
4Gain-
AUH-
-
-
-
4Gain-
AURKA-
-
-
-
4Gain-
AUTS2-
-
-
-
5Amp-
AVL9-
-
-
-
4Gain-
AVP-
-
-
-
4Gain-
AVPR1B-
-
-
-
4Gain-
AXDND1-
-
-
-
4Gain-
AXIN1-
-
-
-
4Gain-
B3GALNT2-
-
-
-
4Gain-
B3GALT2-
-
-
-
4Gain-
B4GALT1-
-
-
-
3Gain-
B4GALT3-
-
-
-
4Gain-
B4GALT5-
-
-
-
4Gain-
BAAT-
-
-
-
4Gain-
BAG1-
-
-
-
3Gain-
BAG5-
-
-
-
4Gain-
BAIAP3-
-
-
-
4Gain-
BANF2-
-
-
-
4Gain-
BARHL1-
-
-
-
4Gain-
BARX1-
-
-
-
4Gain-
BATF-
-
-
-
4Gain-
BATF3-
-
-
-
4Gain-
BAZ1A-
-
-
-
4Gain-
BAZ1B-
-
-
-
5Amp-
BBOF1-
-
-
-
4Gain-
BBS9-
-
-
-
4Gain-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
4Gain-
BCAS1-
-
-
-
4Gain-
BCAS4-
-
-
-
4Gain-
BCKDK-
-
-
-
3Gain-
BCL11Bp.S765L
Missense
SNP
0.471
5Amp-
BCL2L1-
-
-
-
4Gain-
BCL2L2-
-
-
-
5Amp-
BCL2L2-PABPN1-
-
-
-
5Amp-
BCL7B-
-
-
-
5Amp-
BCL7C-
-
-
-
3Gain-
BCL9-
-
-
-
5Amp-
BDKRB1-
-
-
-
4Gain-
BDKRB2-
-
-
-
4Gain-
BECN2-
-
-
-
4Gain-
BEGAIN-
-
-
-
5Amp-
BET1-
-
-
-
4Gain-
BFAR-
-
-
-
4Gain-
BFSP1-
-
-
-
4Gain-
BGLAP-
-
-
-
3Gain-
BHLHE23-
-
-
-
4Gain-
BICD2-
-
-
-
4Gain-
BICDL2-
-
-
-
4Gain-
BICRAL-
-
-
-
1Loss-
BIRC7-
-
-
-
4Gain-
BIVM-ERCC5p.S455F
Missense
SNP
1.000
2--
BLCAP-
-
-
-
4Gain-
BLVRA-
-
-
-
4Gain-
BLZF1-
-
-
-
4Gain-
BMP2-
-
-
-
3Gain-
BMP4-
-
-
-
4Gain-
BMP7-
-
-
-
4Gain-
BMPER-
-
-
-
4Gain-
BMT2-
-
-
-
4Gain-
BNC1p.Y77N
Missense
SNP
1.000
2--
BNC2-
-
-
-
4Gain-
BNIPL-
-
-
-
3Gain-
BOLA1-
-
-
-
5Amp-
BOLA2-
-
-
-
3Gain-
BOLA2-SMG1P6-
-
-
-
3Gain-
BOLA2B-
-
-
-
3Gain-
BPGM-
-
-
-
4Gain-
BPI-
-
-
-
4Gain-
BPIFA1-
-
-
-
4Gain-
BPIFA2-
-
-
-
4Gain-
BPIFA3-
-
-
-
4Gain-
BPIFB1-
-
-
-
4Gain-
BPIFB2-
-
-
-
4Gain-
BPIFB3-
-
-
-
4Gain-
BPIFB4-
-
-
-
4Gain-
BPIFB6-
-
-
-
4Gain-
BPNT1-
-
-
-
4Gain-
BRAF-
-
-
-
4Gain-
BRAT1-
-
-
-
4Gain-
BRD3-
-
-
-
4Gain-
BRF1-
-
-
-
4Gain-
BRICD5-
-
-
-
4Gain-
BRINP1-
-
-
-
3Gain-
BRINP2-
-
-
-
4Gain-
BRINP3-
-
-
-
4Gain-
BRMS1L-
-
-
-
4Gain-
BROX-
-
-
-
4Gain-
BSPRY-
-
-
-
4Gain-
BTBD3-
-
-
-
4Gain-
BTBD6-
-
-
-
4Gain-
BTBD7-
-
-
-
4Gain-
BTG2-
-
-
-
5Amp-
BUD23-
-
-
-
5Amp-
BZW2-
-
-
-
4Gain-
C14orf119-
-
-
-
3Gain-
C14orf132-
-
-
-
4Gain-
C14orf177-
-
-
-
5Amp-
C14orf178-
-
-
-
4Gain-
C14orf180-
-
-
-
4Gain-
C14orf28-
-
-
-
4Gain-
C14orf39-
-
-
-
4Gain-
C14orf93-
-
-
-
3Gain-
C16orf13p.E33Q
Missense
SNP
0.513
NDND-
C16orf45-
-
-
-
4Gain-
C16orf54-
-
-
-
3Gain-
C16orf58-
-
-
-
4Gain-
C16orf71-
-
-
-
4Gain-
C16orf72-
-
-
-
4Gain-
C16orf89-
-
-
-
4Gain-
C16orf90-
-
-
-
4Gain-
C16orf91-
-
-
-
4Gain-
C16orf92-
-
-
-
3Gain-
C16orf96-
-
-
-
4Gain-
C1GALT1-
-
-
-
4Gain-
C1GALT1C1p.Q285*
Nonsense
SNP
0.078
NDND-
C1orf100-
-
-
-
4Gain-
C1orf105-
-
-
-
4Gain-
C1orf112-
-
-
-
4Gain-
C1orf115-
-
-
-
4Gain-
C1orf116-
-
-
-
4Gain-
C1orf131-
-
-
-
4Gain-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
4Gain-
C1orf21-
-
-
-
4Gain-
C1orf226-
-
-
-
4Gain-
C1orf27p.R121K
Missense
SNP
0.433
NDND-
C1orf35-
-
-
-
4Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
4Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
5Amp-
C1orf74-
-
-
-
4Gain-
C1QBPp.D84N
Missense
SNP
1.000
2--
C1QTNF8-
-
-
-
4Gain-
C20orf141-
-
-
-
4Gain-
C20orf144-
-
-
-
4Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
4Gain-
C20orf203-
-
-
-
4Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
4Gain-
C20orf96-
-
-
-
4Gain-
C2CD4D-
-
-
-
5Amp-
C2orf47p.E31Q
Missense
SNP
1.000
NDND-
C2orf74-
-
-
-
1Loss-
C4A-
-
-
-
3Gain-
C4B-
-
-
-
3Gain-
C4BPA-
-
-
-
4Gain-
C4BPB-
-
-
-
4Gain-
C5-
-
-
-
3Gain-
C5orf60-
-
-
-
1Loss-
C6orf226-
-
-
-
1Loss-
C7orf25-
-
-
-
4Gain-
C7orf26-
-
-
-
4Gain-
C7orf31-
-
-
-
4Gain-
C7orf33-
-
-
-
4Gain-
C7orf50-
-
-
-
4Gain-
C7orf55-LUC7L2-
-
-
-
4Gain-
C7orf57-
-
-
-
4Gain-
C7orf77-
-
-
-
4Gain-
C8G-
-
-
-
3Gain-
C9orf116-
-
-
-
4Gain-
C9orf129-
-
-
-
4Gain-
C9orf131p.L695V
Missense
SNP
0.442
3Gain-
C9orf135-
-
-
-
4Gain-
C9orf152-
-
-
-
4Gain-
C9orf153-
-
-
-
4Gain-
C9orf16-
-
-
-
3Gain-
C9orf24-
-
-
-
3Gain-
C9orf3-
-
-
-
4Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
4Gain-
C9orf50-
-
-
-
3Gain-
C9orf57-
-
-
-
4Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
3Gain-
C9orf72-
-
-
-
3Gain-
C9orf78-
-
-
-
3Gain-
C9orf84-
-
-
-
4Gain-
C9orf85-
-
-
-
4Gain-
C9orf92-
-
-
-
4Gain-
CA14-
-
-
-
3Gain-
CA9-
-
-
-
3Gain-
CAAP1-
-
-
-
3Gain-
CABLES2-
-
-
-
3Gain-
CABP4p.E188*
Nonsense
SNP
1.000
2--
CACFD1-
-
-
-
4Gain-
CACNA1Bp.L1250V
Missense
SNP
0.447
3Gain-
CACNA1E-
-
-
-
4Gain-
CACNA1H-
-
-
-
4Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNG3-
-
-
-
4Gain-
CACYBP-
-
-
-
4Gain-
CADM3-
-
-
-
4Gain-
CADPS2-
-
-
-
4Gain-
CALCR-
-
-
-
4Gain-
CALD1-
-
-
-
4Gain-
CALM1-
-
-
-
4Gain-
CALN1-
-
-
-
5Amp-
CALU-
-
-
-
3Gain-
CAMK1G-
-
-
-
4Gain-
CAMK2B-
-
-
-
4Gain-
CAMSAP1-
-
-
-
4Gain-
CAMSAP2-
-
-
-
3Gain-
CANX-
-
-
-
1Loss-
CAPN15-
-
-
-
4Gain-
CAPN2-
-
-
-
4Gain-
CAPN8-
-
-
-
4Gain-
CAPN9-
-
-
-
4Gain-
CAPZA2-
-
-
-
4Gain-
CARD11-
-
-
-
4Gain-
CARD19-
-
-
-
4Gain-
CARD9-
-
-
-
4Gain-
CARHSP1-
-
-
-
4Gain-
CARMIL3-
-
-
-
5Amp-
CARNMT1-
-
-
-
3Gain-
CASD1-
-
-
-
4Gain-
CASKIN1-
-
-
-
4Gain-
CASP2-
-
-
-
4Gain-
CASQ1-
-
-
-
4Gain-
CASS4-
-
-
-
4Gain-
CASTOR2-
-
-
-
3Gain-
CATSPERB-
-
-
-
4Gain-
CATSPERE-
-
-
-
4Gain-
CAV1-
-
-
-
4Gain-
CAV2-
-
-
-
4Gain-
CAVIN4-
-
-
-
4Gain-
CBFA2T2-
-
-
-
4Gain-
CBLL1-
-
-
-
4Gain-
CBLN3-
-
-
-
4Gain-
CBLN4-
-
-
-
4Gain-
CBWD1-
-
-
-
3Gain-
CBWD3-
-
-
-
4Gain-
CBWD6-
-
-
-
5Amp-
CBX3-
-
-
-
4Gain-
CBY3-
-
-
-
1Loss-
CC2D1Ap.X862_splice
Splice_Site
SNP
1.000
2--
CCDC107-
-
-
-
3Gain-
CCDC126-
-
-
-
4Gain-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC154-
-
-
-
4Gain-
CCDC168p.D6063N
Missense
SNP
1.000
2--
CCDC171-
-
-
-
4Gain-
CCDC175-
-
-
-
4Gain-
CCDC177-
-
-
-
4Gain-
CCDC180-
-
-
-
4Gain-
CCDC181-
-
-
-
4Gain-
CCDC183-
-
-
-
3Gain-
CCDC185-
-
-
-
4Gain-
CCDC187-
-
-
-
4Gain-
CCDC189-
-
-
-
3Gain-
CCDC190-
-
-
-
4Gain-
CCDC198-
-
-
-
4Gain-
CCDC78-
-
-
-
4Gain-
CCDC85C-
-
-
-
5Amp-
CCDC88Ap.E983K
Missense
SNP
1.000
2--
CCDC88Cp.E361Q
Missense
SNP
0.543
4Gain-
CCIN-
-
-
-
3Gain-
CCL19-
-
-
-
3Gain-
CCL21-
-
-
-
3Gain-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCL27-
-
-
-
3Gain-
CCM2-
-
-
-
4Gain-
CCM2L-
-
-
-
4Gain-
CCNB1IP1-
-
-
-
3Gain-
CCNF-
-
-
-
4Gain-
CCNK-
-
-
-
5Amp-
CCP110-
-
-
-
3Gain-
CCSAP-
-
-
-
4Gain-
CCT3-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
4Gain-
CCZ1B-
-
-
-
4Gain-
CD160-
-
-
-
3Gain-
CD19-
-
-
-
3Gain-
CD1A-
-
-
-
4Gain-
CD1B-
-
-
-
4Gain-
CD1C-
-
-
-
4Gain-
CD1D-
-
-
-
4Gain-
CD1E-
-
-
-
4Gain-
CD244-
-
-
-
4Gain-
CD247-
-
-
-
4Gain-
CD274-
-
-
-
3Gain-
CD2BP2-
-
-
-
3Gain-
CD34-
-
-
-
4Gain-
CD36-
-
-
-
3Gain-
CD40-
-
-
-
4Gain-
CD46-
-
-
-
4Gain-
CD48-
-
-
-
4Gain-
CD55-
-
-
-
4Gain-
CD5L-
-
-
-
4Gain-
CD72-
-
-
-
3Gain-
CD84-
-
-
-
4Gain-
CD93-
-
-
-
4Gain-
CDC14B-
-
-
-
4Gain-
CDC14C-
-
-
-
4Gain-
CDC25B-
-
-
-
3Gain-
CDC26-
-
-
-
4Gain-
CDC37L1-
-
-
-
3Gain-
CDC42BPA-
-
-
-
4Gain-
CDC42BPB-
-
-
-
4Gain-
CDC42SE1-
-
-
-
3Gain-
CDC73-
-
-
-
4Gain-
CDCA4-
-
-
-
4Gain-
CDCA7L-
-
-
-
4Gain-
CDH22-
-
-
-
4Gain-
CDH24-
-
-
-
3Gain-
CDH26-
-
-
-
4Gain-
CDH4-
-
-
-
4Gain-
CDH7-
-
-
-
2-AC090358.1--CDH7
CDIP1-
-
-
-
4Gain-
CDIPT-
-
-
-
3Gain-
CDK13-
-
-
-
4Gain-
CDK14-
-
-
-
4Gain-
CDK18-
-
-
-
4Gain-
CDK20-
-
-
-
4Gain-
CDK5-
-
-
-
4Gain-
CDK5RAP1-
-
-
-
4Gain-
CDK5RAP2-
-
-
-
3Gain-
CDK6-
-
-
-
4Gain-
CDK9-
-
-
-
3Gain-
CDKL1-
-
-
-
4Gain-
CDKN2A-
-
-
-
3Gain-
CDKN2B-
-
-
-
3Gain-
CDKN3-
-
-
-
4Gain-
CDR2-
-
-
-
3Gain-
CDS2-
-
-
-
3Gain-
CEBPB-
-
-
-
4Gain-
CEBPE-
-
-
-
3Gain-
CEL-
-
-
-
4Gain-
CELF3-
-
-
-
3Gain-
CEMIP2-
-
-
-
4Gain-
CEMP1-
-
-
-
4Gain-
CENPB-
-
-
-
3Gain-
CENPF-
-
-
-
4Gain-
CENPL-
-
-
-
4Gain-
CENPP-
-
-
-
4Gain-
CEP128-
-
-
-
4Gain-
CEP170-
-
-
-
4Gain-
CEP170B-
-
-
-
4Gain-
CEP250-
-
-
-
3Gain-
CEP295NLp.E411Q
Missense
SNP
1.000
2--
CEP350-
-
-
-
4Gain-
CEP41-
-
-
-
3Gain-
CEP78-
-
-
-
4Gain-
CEP85Lp.S642C
Missense
SNP
1.000
2--
CEP95p.P574S
Missense
SNP
1.000
2--
CER1-
-
-
-
4Gain-
CERCAM-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CFAP126-
-
-
-
4Gain-
CFAP157-
-
-
-
3Gain-
CFAP45-
-
-
-
4Gain-
CFAP53p.E465Q
Missense
SNP
1.000
2--
CFAP61-
-
-
-
4Gain-
CFAP69-
-
-
-
4Gain-
CFAP77-
-
-
-
4Gain-
CFDP1p.E242Q
Missense
SNP
0.985
2--
CFH-
-
-
-
4Gain-
CFHR1-
-
-
-
4Gain-
CFHR2-
-
-
-
4Gain-
CFHR3-
-
-
-
4Gain-
CFHR4-
-
-
-
4Gain-
CFHR5-
-
-
-
4Gain-
CFL2-
-
-
-
4Gain-
CFTR-
-
-
-
4Gain-
CGN-
-
-
-
3Gain-
CGRRF1-
-
-
-
4Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
4Gain-
CHD1L-
-
-
-
5Amp-
CHD6-
-
-
-
4Gain-
CHD8-
-
-
-
3Gain-
CHGA-
-
-
-
4Gain-
CHGB-
-
-
-
3Gain-
CHI3L1-
-
-
-
5Amp-
CHIT1-
-
-
-
5Amp-
CHML-
-
-
-
4Gain-
CHMP4A-
-
-
-
3Gain-
CHMP4B-
-
-
-
4Gain-
CHMP5-
-
-
-
3Gain-
CHN2-
-
-
-
4Gain-
CHP2-
-
-
-
3Gain-
CHPF2-
-
-
-
4Gain-
CHRM2-
-
-
-
4Gain-
CHRM3-
-
-
-
4Gain-
CHRNA4-
-
-
-
4Gain-
CHRNB2-
-
-
-
4Gain-
CHST12-
-
-
-
4Gain-
CHTF18-
-
-
-
4Gain-
CHTOP-
-
-
-
3Gain-
CHURC1-
-
-
-
4Gain-
CHURC1-FNTB-
-
-
-
4Gain-
CIAO3-
-
-
-
4Gain-
CIART-
-
-
-
3Gain-
CIDEB-
-
-
-
4Gain-
CIITA-
-
-
-
4Gain-
CINP-
-
-
-
4Gain-
CIPC-
-
-
-
4Gain-
CIZ1-
-
-
-
3Gain-
CKB-
-
-
-
4Gain-
CKS1B-
-
-
-
4Gain-
CKS2-
-
-
-
4Gain-
CLBA1-
-
-
-
4Gain-
CLCN1-
-
-
-
4Gain-
CLCN7-
-
-
-
4Gain-
CLDN12-
-
-
-
4Gain-
CLDN3-
-
-
-
5Amp-
CLDN4-
-
-
-
5Amp-
CLDN6-
-
-
-
4Gain-
CLDN9-
-
-
-
4Gain-
CLEC14A-
-
-
-
4Gain-
CLEC16A-
-
-
-
4Gain-
CLEC19A-
-
-
-
3Gain-
CLEC2Lp.E35K
Missense
SNP
0.476
4Gain-
CLEC5A-
-
-
-
4Gain-
CLIC3-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLMN-
-
-
-
4Gain-
CLN3-
-
-
-
3Gain-
CLTA-
-
-
-
3Gain-
CLUAP1-
-
-
-
4Gain-
CMA1-
-
-
-
4Gain-
CMTM5-
-
-
-
5Amp-
CNBD2-
-
-
-
3Gain-
CNIH1-
-
-
-
4Gain-
CNIH3-
-
-
-
4Gain-
CNIH4-
-
-
-
4Gain-
CNOT4-
-
-
-
4Gain-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
4Gain-
CNPY3-
-
-
-
1Loss-
CNST-
-
-
-
4Gain-
CNTFR-
-
-
-
3Gain-
CNTLN-
-
-
-
4Gain-
CNTN2-
-
-
-
4Gain-
CNTNAP2-
-
-
-
4Gain-
CNTNAP3-
-
-
-
5Amp-
CNTNAP3B-
-
-
-
5Amp-
CNTNAP3C-
-
-
-
4Gain-
CNTRL-
-
-
-
3Gain-
CNTROBp.R424T
Missense
SNP
1.000
2--
COA1-
-
-
-
4Gain-
COA6-
-
-
-
4Gain-
COBL-
-
-
-
4Gain-
COCHp.E283K
Missense
SNP
0.405
4Gain-
COG2-
-
-
-
4Gain-
COG5-
-
-
-
4Gain-
COG7-
-
-
-
3Gain-
COL15A1-
-
-
-
4Gain-
COL1A2-
-
-
-
4Gain-
COL20A1-
-
-
-
4Gain-
COL27A1-
-
-
-
4Gain-
COL28A1-
-
-
-
4Gain-
COL5A1-
-
-
-
4Gain-
COL6A2p.D330H
Missense
SNP
1.000
2--
COL9A3-
-
-
-
3Gain-
COLGALT2-
-
-
-
4Gain-
COMMD7-
-
-
-
4Gain-
COP1-
-
-
-
4Gain-
COPA-
-
-
-
4Gain-
COPG2-
-
-
-
3Gain-
COQ4-
-
-
-
3Gain-
COQ6-
-
-
-
4Gain-
COQ7-
-
-
-
3Gain-
COQ8A-
-
-
-
4Gain-
CORO1A-
-
-
-
3Gain-
CORO1Bp.L363V
Missense
SNP
1.000
2--
CORO2A-
-
-
-
4Gain-
CORO7-
-
-
-
4Gain-
CORO7-PAM16-
-
-
-
4Gain-
COX16-
-
-
-
4Gain-
COX19-
-
-
-
4Gain-
COX20-
-
-
-
4Gain-
COX4I2-
-
-
-
4Gain-
COX6A2-
-
-
-
4Gain-
COX8C-
-
-
-
4Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPED1-
-
-
-
4Gain-
CPNE1-
-
-
-
3Gain-
CPNE6-
-
-
-
3Gain-
CPPED1-
-
-
-
4Gain-
CPSF2-
-
-
-
4Gain-
CPVL-
-
-
-
4Gain-
CPXM1-
-
-
-
4Gain-
CR1-
-
-
-
4Gain-
CR1L-
-
-
-
4Gain-
CR2-
-
-
-
4Gain-
CRABP2-
-
-
-
3Gain-
CRAMP1-
-
-
-
4Gain-
CRAT-
-
-
-
3Gain-
CRB1-
-
-
-
4Gain-
CRB2-
-
-
-
3Gain-
CRCP-
-
-
-
5Amp-
CRCT1-
-
-
-
5Amp-
CREB3-
-
-
-
3Gain-
CREB3L2-
-
-
-
4Gain-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
4Gain-
CREBBP-
-
-
-
4Gain-
CREG1-
-
-
-
4Gain-
CRHR2-
-
-
-
4Gain-
CRIP1-
-
-
-
4Gain-
CRIP2-
-
-
-
4Gain-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
4Gain-
CRNN-
-
-
-
5Amp-
CROCCp.E819K
Missense
SNP
0.494
2--
CROT-
-
-
-
4Gain-
CRP-
-
-
-
4Gain-
CRTC2-
-
-
-
3Gain-
CRTC3p.R116Q
Missense
SNP
1.000
2--
CRYGN-
-
-
-
4Gain-
CRYM-
-
-
-
4Gain-
CSE1L-
-
-
-
4Gain-
CSNK2A1-
-
-
-
4Gain-
CSRP1-
-
-
-
3Gain-
CST1-
-
-
-
4Gain-
CST11-
-
-
-
4Gain-
CST2-
-
-
-
4Gain-
CST3-
-
-
-
4Gain-
CST4-
-
-
-
4Gain-
CST5-
-
-
-
4Gain-
CST7-
-
-
-
4Gain-
CST8-
-
-
-
4Gain-
CST9-
-
-
-
4Gain-
CST9L-
-
-
-
4Gain-
CSTF1-
-
-
-
4Gain-
CSTL1-
-
-
-
4Gain-
CTAGE15-
-
-
-
4Gain-
CTAGE6-
-
-
-
4Gain-
CTCFL-
-
-
-
4Gain-
CTF1-
-
-
-
3Gain-
CTNNAL1-
-
-
-
4Gain-
CTNNBL1-
-
-
-
4Gain-
CTPS2p.S231C
Missense
SNP
0.548
NDND-
CTSA-
-
-
-
4Gain-
CTSE-
-
-
-
4Gain-
CTSG-
-
-
-
4Gain-
CTSK-
-
-
-
3Gain-
CTSL-
-
-
-
4Gain-
CTSS-
-
-
-
3Gain-
CTSV-
-
-
-
4Gain-
CTSZ-
-
-
-
4Gain-
CTTNBP2-
-
-
-
4Gain-
CUL1-
-
-
-
4Gain-
CUL7-
-
-
-
1Loss-
CYB5R1-
-
-
-
5Amp-
CYCS-
-
-
-
4Gain-
CYLC2-
-
-
-
4Gain-
CYP24A1-
-
-
-
4Gain-
CYP2E1-
-
-
-
3Gain-
CYP2W1-
-
-
-
4Gain-
CYP46A1-
-
-
-
5Amp-
CYP4F2p.E387D
Missense
SNP
1.000
2--
CYP51A1-
-
-
-
4Gain-
CYREN-
-
-
-
4Gain-
CYSRT1-
-
-
-
3Gain-
CYTH3-
-
-
-
4Gain-
DAAM1-
-
-
-
4Gain-
DAB2IP-
-
-
-
3Gain-
DACT1p.S385L
Missense
SNP
0.492
4Gain-
DAD1-
-
-
-
3Gain-
DAGLB-
-
-
-
4Gain-
DAP3-
-
-
-
3Gain-
DAPK1-
-
-
-
4Gain-
DARS2-
-
-
-
4Gain-
DBF4p.G213E
Missense
SNP
0.470
4Gain-
DBH-
-
-
-
4Gain-
DBNDD2-
-
-
-
4Gain-
DBNL-
-
-
-
4Gain-
DCAF10-
-
-
-
3Gain-
DCAF11-
-
-
-
3Gain-
DCAF12-
-
-
-
3Gain-
DCAF4-
-
-
-
4Gain-
DCAF5-
-
-
-
4Gain-
DCAF6-
-
-
-
4Gain-
DCAF8-
-
-
-
4Gain-
DCST1-
-
-
-
4Gain-
DCST2-
-
-
-
4Gain-
DCTN3-
-
-
-
3Gain-
DCTN5-
-
-
-
3Gain-
DCTPP1-
-
-
-
3Gain-
DCUN1D3-
-
-
-
4Gain-
DDC-
-
-
-
4Gain-
DDHD1p.E616Q
Missense
SNP
0.547
4Gain-
DDR2-
-
-
-
4Gain-
DDRGK1-
-
-
-
4Gain-
DDX24-
-
-
-
4Gain-
DDX27-
-
-
-
4Gain-
DDX31-
-
-
-
4Gain-
DDX56-
-
-
-
4Gain-
DDX58p.S207A
Missense
SNP
0.406
3Gain-
DDX59-
-
-
-
3Gain-
DEC1-
-
-
-
3Gain-
DECR2-
-
-
-
4Gain-
DEDD-
-
-
-
4Gain-
DEFB115-
-
-
-
4Gain-
DEFB116-
-
-
-
4Gain-
DEFB118-
-
-
-
4Gain-
DEFB119-
-
-
-
4Gain-
DEFB121-
-
-
-
4Gain-
DEFB123-
-
-
-
4Gain-
DEFB124-
-
-
-
4Gain-
DEFB125-
-
-
-
4Gain-
DEFB126-
-
-
-
4Gain-
DEFB127-
-
-
-
4Gain-
DEFB128-
-
-
-
4Gain-
DEFB129-
-
-
-
4Gain-
DEFB131A-
-
-
-
5Amp-
DEFB132-
-
-
-
4Gain-
DEGS1-
-
-
-
4Gain-
DEGS2-
-
-
-
5Amp-
DENND1A-
-
-
-
3Gain-
DENND1B-
-
-
-
4Gain-
DENND2A-
-
-
-
4Gain-
DENND4B-
-
-
-
5Amp-
DENND4C-
-
-
-
3Gain-
DESI2-
-
-
-
4Gain-
DEXI-
-
-
-
4Gain-
DFNB59p.H339Y
Missense
SNP
1.000
NDND-
DGKB-
-
-
-
4Gain-
DGKI-
-
-
-
4Gain-
DGLUCY-
-
-
-
4Gain-
DHRS1-
-
-
-
4Gain-
DHRS2-
-
-
-
5Amp-
DHRS4-
-
-
-
5Amp-
DHRS4L2-
-
-
-
5Amp-
DHRS7-
-
-
-
4Gain-
DHX35-
-
-
-
4Gain-
DHX9-
-
-
-
4Gain-
DICER1-
-
-
-
4Gain-
DIDO1p.E1403Q
Missense
SNP
0.470
4Gain-
DIEXFp.S620C
Missense
SNP
0.468
NDND-
DIO2-
-
-
-
4Gain-
DIO3-
-
-
-
5Amp-
DIRAS2-
-
-
-
4Gain-
DISC1-
-
-
-
4Gain-
DISP1-
-
-
-
4Gain-
DLD-
-
-
-
4Gain-
DLG5p.S1321*
Nonsense
SNP
1.000
2--
DLGAP4-
-
-
-
4Gain-
DLGAP5-
-
-
-
4Gain-
DLK1-
-
-
-
5Amp-
DLST-
-
-
-
4Gain-
DMAC1-
-
-
-
4Gain-
DMRT1-
-
-
-
3Gain-
DMRT2-
-
-
-
3Gain-
DMRT3-
-
-
-
3Gain-
DMRTA1-
-
-
-
3Gain-
DMTF1-
-
-
-
4Gain-
DNAAF2-
-
-
-
4Gain-
DNAAF5-
-
-
-
4Gain-
DNAH11-
-
-
-
4Gain-
DNAH14-
-
-
-
4Gain-
DNAH3-
-
-
-
4Gain-
DNAH5p.L3733F
Missense
SNP
1.000
2--
DNAI1-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJA3-
-
-
-
4Gain-
DNAJB5-
-
-
-
3Gain-
DNAJB6-
-
-
-
4Gain-
DNAJB9-
-
-
-
4Gain-
DNAJC25-
-
-
-
4Gain-
DNAJC25-GNG10-
-
-
-
4Gain-
DNAJC30-
-
-
-
5Amp-
DNAJC5-
-
-
-
4Gain-
DNAL1-
-
-
-
4Gain-
DNASE1-
-
-
-
4Gain-
DNASE1L2-
-
-
-
4Gain-
DND1p.Q39H
Missense
SNP
1.000
2--
DNM1-
-
-
-
3Gain-
DNM3-
-
-
-
4Gain-
DNMT3B-
-
-
-
4Gain-
DNTTIP1-
-
-
-
4Gain-
DOC2A-
-
-
-
3Gain-
DOCK4-
-
-
-
4Gain-
DOCK8-
-
-
-
3Gain-
DOCK9p.L855V
Missense
SNP
1.000
2--
DOK5-
-
-
-
4Gain-
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DPF3-
-
-
-
4Gain-
DPH7-
-
-
-
3Gain-
DPM1-
-
-
-
4Gain-
DPM2-
-
-
-
3Gain-
DPM3-
-
-
-
4Gain-
DPP6-
-
-
-
4Gain-
DPP7-
-
-
-
3Gain-
DPT-
-
-
-
4Gain-
DPY19L1-
-
-
-
4Gain-
DSN1-
-
-
-
4Gain-
DSTp.E3939K
Missense
SNP
1.000
2--
DSTN-
-
-
-
4Gain-
DSTYK-
-
-
-
4Gain-
DTD1-
-
-
-
4Gain-
DTD2-
-
-
-
4Gain-
DTL-
-
-
-
4Gain-
DTX2-
-
-
-
3Gain-
DUS4L-
-
-
-
4Gain-
DUSP10-
-
-
-
4Gain-
DUSP12-
-
-
-
4Gain-
DUSP15-
-
-
-
4Gain-
DUSP23-
-
-
-
4Gain-
DUSP27-
-
-
-
4Gain-
DYNC1H1-
-
-
-
5Amp-
DYNLRB1-
-
-
-
4Gain-
DYRK3-
-
-
-
4Gain-
DZANK1-
-
-
-
4Gain-
E2F1-
-
-
-
4Gain-
E4F1-
-
-
-
4Gain-
EAPP-
-
-
-
4Gain-
EARS2-
-
-
-
3Gain-
EBF4-
-
-
-
4Gain-
ECI1p.R251*
Nonsense
SNP
0.429
4Gain-
ECM1-
-
-
-
3Gain-
ECM2-
-
-
-
4Gain-
ECPAS-
-
-
-
4Gain-
EDARADD-
-
-
-
4Gain-
EDDM3A-
-
-
-
3Gain-
EDDM3B-
-
-
-
3Gain-
EDEM2-
-
-
-
4Gain-
EDEM3-
-
-
-
4Gain-
EDF1-
-
-
-
3Gain-
EDN3-
-
-
-
4Gain-
EEF1A2-
-
-
-
4Gain-
EEF2K-
-
-
-
4Gain-
EEF2KMT-
-
-
-
4Gain-
EEPD1-
-
-
-
4Gain-
EFCAB11-
-
-
-
4Gain-
EFCAB2-
-
-
-
4Gain-
EFCAB8-
-
-
-
4Gain-
EFNA1-
-
-
-
4Gain-
EFNA3-
-
-
-
4Gain-
EFNA4-
-
-
-
4Gain-
EFS-
-
-
-
5Amp-
EGFL7-
-
-
-
3Gain-
EGFR-
-
-
-
4Gain-
EGLN1-
-
-
-
4Gain-
EGLN3-
-
-
-
4Gain-
EHMT1-
-
-
-
3Gain-
EID1p.L136V
Missense
SNP
1.000
2--
EIF2AK1-
-
-
-
4Gain-
EIF2B2-
-
-
-
4Gain-
EIF2D-
-
-
-
4Gain-
EIF2S1-
-
-
-
4Gain-
EIF2S2-
-
-
-
4Gain-
EIF3B-
-
-
-
4Gain-
EIF3C-
-
-
-
5Amp-
EIF3CL-
-
-
-
5Amp-
EIF4EBP3-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
EIF5-
-
-
-
4Gain-
EIF6-
-
-
-
4Gain-
ELAVL2-
-
-
-
3Gain-
ELF3-
-
-
-
3Gain-
ELFN1-
-
-
-
4Gain-
ELK4-
-
-
-
4Gain-
ELMO1-
-
-
-
4Gain-
ELMO2-
-
-
-
4Gain-
ELMSAN1-
-
-
-
4Gain-
ELN-
-
-
-
5Amp-
ELOB-
-
-
-
4Gain-
ELP1-
-
-
-
4Gain-
EMC9p.K13N
Missense
SNP
0.566
3Gain-
EME2-
-
-
-
4Gain-
EMILIN3-
-
-
-
4Gain-
EML1-
-
-
-
5Amp-
EML5-
-
-
-
4Gain-
EMP2-
-
-
-
4Gain-
EN2-
-
-
-
4Gain-
ENAH-
-
-
-
4Gain-
ENDOG-
-
-
-
3Gain-
ENG-
-
-
-
3Gain-
ENHO-
-
-
-
3Gain-
ENPEPp.S296F
Missense
SNP
1.000
2--
ENSA-
-
-
-
3Gain-
ENTPD2-
-
-
-
3Gain-
ENTPD5-
-
-
-
4Gain-
ENTPD6-
-
-
-
4Gain-
ENTPD8-
-
-
-
3Gain-
ENTR1-
-
-
-
3Gain-
EPB41L1-
-
-
-
4Gain-
EPB41L4B-
-
-
-
4Gain-
EPDR1-
-
-
-
4Gain-
EPHA1-
-
-
-
4Gain-
EPHB1p.D832H
Missense
SNP
1.000
2--
EPHB6-
-
-
-
4Gain-
EPHX1-
-
-
-
4Gain-
EPPIN-
-
-
-
4Gain-
EPPIN-WFDC6-
-
-
-
4Gain-
EPRS-
-
-
-
4Gain-
EQTN-
-
-
-
3Gain-
ERC1p.S7C
Missense
SNP
1.000
2--
ERC2p.R6T
Missense
SNP
1.000
2--
ERCC4p.K500*
Nonsense
SNP
0.438
4Gain-
ERCC5p.V1037A
Missense
SNP
1.000
2--
ERCC6L2-
-
-
-
4Gain-
ERG28-
-
-
-
4Gain-
ERGIC3-
-
-
-
3Gain-
ERH-
-
-
-
4Gain-
ERI2-
-
-
-
4Gain-
ERMP1-
-
-
-
3Gain-
ERN2-
-
-
-
3Gain-
ERO1A-
-
-
-
4Gain-
ERO1B-
-
-
-
4Gain-
ERP44-
-
-
-
4Gain-
ERVMER34-1p.S533L
Missense
SNP
1.000
NDND-
ESF1-
-
-
-
4Gain-
ESR2-
-
-
-
4Gain-
ESRRB-
-
-
-
4Gain-
ESRRG-
-
-
-
4Gain-
ESYT2-
-
-
-
4Gain-
ETNK2-
-
-
-
3Gain-
ETV1p.D177H
Missense
SNP
0.536
4Gain-
ETV3-
-
-
-
4Gain-
ETV3L-
-
-
-
4Gain-
EVL-
-
-
-
5Amp-
EVX1-
-
-
-
4Gain-
EXD2-
-
-
-
4Gain-
EXD3-
-
-
-
3Gain-
EXO1-
-
-
-
4Gain-
EXOC3L4-
-
-
-
4Gain-
EXOC4-
-
-
-
4Gain-
EXOC5-
-
-
-
4Gain-
EXOC8-
-
-
-
4Gain-
EXOSC2-
-
-
-
3Gain-
EXOSC3-
-
-
-
3Gain-
EYA2-
-
-
-
4Gain-
EZH1p.E722Q
Missense
SNP
1.000
2--
EZH2-
-
-
-
4Gain-
F11R-
-
-
-
4Gain-
F13B-
-
-
-
4Gain-
F5-
-
-
-
4Gain-
FABP12p.R127L
Missense
SNP
1.000
2--
FAHD1-
-
-
-
4Gain-
FAM102A-
-
-
-
3Gain-
FAM110A-
-
-
-
4Gain-
FAM114A2-
-
-
-
1Loss-
FAM120A-
-
-
-
4Gain-
FAM120AOS-
-
-
-
4Gain-
FAM122A-
-
-
-
4Gain-
FAM126A-
-
-
-
4Gain-
FAM129A-
-
-
-
4Gain-
FAM129B-
-
-
-
3Gain-
FAM131B-
-
-
-
4Gain-
FAM133B-
-
-
-
4Gain-
FAM13Bp.E206Q
Missense
SNP
1.000
2--
FAM161B-
-
-
-
4Gain-
FAM163A-
-
-
-
4Gain-
FAM163B-
-
-
-
4Gain-
FAM166A-
-
-
-
3Gain-
FAM166B-
-
-
-
3Gain-
FAM170Bp.D195N
Missense
SNP
1.000
2--
FAM173A-
-
-
-
4Gain-
FAM177A1-
-
-
-
4Gain-
FAM177B-
-
-
-
4Gain-
FAM180A-
-
-
-
4Gain-
FAM181A-
-
-
-
4Gain-
FAM189A2-
-
-
-
4Gain-
FAM189B-
-
-
-
3Gain-
FAM205A-
-
-
-
3Gain-
FAM206A-
-
-
-
4Gain-
FAM209A-
-
-
-
4Gain-
FAM209B-
-
-
-
4Gain-
FAM20B-
-
-
-
4Gain-
FAM20C-
-
-
-
4Gain-
FAM210B-
-
-
-
4Gain-
FAM214B-
-
-
-
3Gain-
FAM217B-
-
-
-
4Gain-
FAM219A-
-
-
-
3Gain-
FAM220A-
-
-
-
4Gain-
FAM221A-
-
-
-
4Gain-
FAM221B-
-
-
-
3Gain-
FAM234A-
-
-
-
4Gain-
FAM3C-
-
-
-
4Gain-
FAM45Ap.S164C
Missense
SNP
1.000
2--
FAM47Cp.L510F
p.G770A
Missense
Missense
SNP
SNP
0.406
0.495
NDND-
FAM57B-
-
-
-
3Gain-
FAM69B-
-
-
-
3Gain-
FAM71A-
-
-
-
4Gain-
FAM71D-
-
-
-
4Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM72A-
-
-
-
4Gain-
FAM72C-
-
-
-
3Gain-
FAM72D-
-
-
-
3Gain-
FAM78A-
-
-
-
3Gain-
FAM78B-
-
-
-
4Gain-
FAM83C-
-
-
-
4Gain-
FAM83D-
-
-
-
4Gain-
FAM89A-
-
-
-
4Gain-
FAM95C-
-
-
-
5Amp-
FANCC-
-
-
-
4Gain-
FANCG-
-
-
-
3Gain-
FANCM-
-
-
-
4Gain-
FASLG-
-
-
-
4Gain-
FASNp.E915Q
Missense
SNP
1.000
2--
FASTK-
-
-
-
4Gain-
FASTKD5-
-
-
-
4Gain-
FAT1p.R532W
Missense
SNP
1.000
2--
FAXDC2-
-
-
-
1Loss-
FBLN5-
-
-
-
4Gain-
FBP1-
-
-
-
4Gain-
FBP2-
-
-
-
4Gain-
FBRS-
-
-
-
3Gain-
FBXL16-
-
-
-
4Gain-
FBXL18-
-
-
-
4Gain-
FBXL19-
-
-
-
3Gain-
FBXO10-
-
-
-
3Gain-
FBXO28-
-
-
-
4Gain-
FBXO33-
-
-
-
4Gain-
FBXO34-
-
-
-
4Gain-
FBXO40-
-
-
-
1Loss-
FBXW2-
-
-
-
3Gain-
FBXW5-
-
-
-
3Gain-
FCAMR-
-
-
-
4Gain-
FCER1Ap.E100D
Missense
SNP
0.577
4Gain-
FCER1G-
-
-
-
4Gain-
FCF1-
-
-
-
4Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
4Gain-
FCGR2B-
-
-
-
4Gain-
FCGR2C-
-
-
-
4Gain-
FCGR3A-
-
-
-
4Gain-
FCGR3B-
-
-
-
4Gain-
FCMR-
-
-
-
4Gain-
FCN1-
-
-
-
3Gain-
FCN2-
-
-
-
3Gain-
FCRL1-
-
-
-
4Gain-
FCRL2-
-
-
-
4Gain-
FCRL3-
-
-
-
4Gain-
FCRL4-
-
-
-
4Gain-
FCRL5-
-
-
-
4Gain-
FCRL6-
-
-
-
4Gain-
FCRLA-
-
-
-
4Gain-
FCRLB-
-
-
-
4Gain-
FDPS-
-
-
-
3Gain-
FERD3L-
-
-
-
4Gain-
FERMT1-
-
-
-
3Gain-
FERMT2p.K68N
Missense
SNP
0.500
4Gain-
FEZF1-
-
-
-
4Gain-
FGD3-
-
-
-
4Gain-
FGL2-
-
-
-
3Gain-
FH-
-
-
-
4Gain-
FIBCD1-
-
-
-
3Gain-
FIGNL1-
-
-
-
4Gain-
FITM1-
-
-
-
3Gain-
FITM2-
-
-
-
4Gain-
FKBP14-
-
-
-
4Gain-
FKBP15-
-
-
-
4Gain-
FKBP1A-
-
-
-
4Gain-
FKBP3-
-
-
-
4Gain-
FKBP6-
-
-
-
5Amp-
FKBP9-
-
-
-
4Gain-
FKTN-
-
-
-
4Gain-
FLAD1-
-
-
-
4Gain-
FLG-
-
-
-
5Amp-
FLG2-
-
-
-
5Amp-
FLNC-
-
-
-
3Gain-
FLRT2-
-
-
-
4Gain-
FLRT3-
-
-
-
4Gain-
FLVCR1-
-
-
-
4Gain-
FLVCR2-
-
-
-
4Gain-
FLYWCH1-
-
-
-
4Gain-
FLYWCH2-
-
-
-
4Gain-
FMC1-
-
-
-
4Gain-
FMN2-
-
-
-
4Gain-
FMO1-
-
-
-
4Gain-
FMO2-
-
-
-
4Gain-
FMO3-
-
-
-
4Gain-
FMO4-
-
-
-
4Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
5Amp-
FNBP1-
-
-
-
3Gain-
FNDC11-
-
-
-
4Gain-
FNTB-
-
-
-
4Gain-
FO393400.1-
-
-
-
4Gain-
FOCAD-
-
-
-
3Gain-
FOPNL-
-
-
-
4Gain-
FOS-
-
-
-
4Gain-
FOXA1-
-
-
-
4Gain-
FOXA2-
-
-
-
4Gain-
FOXB2-
-
-
-
4Gain-
FOXD4-
-
-
-
3Gain-
FOXD4L5-
-
-
-
4Gain-
FOXD4L6-
-
-
-
5Amp-
FOXE1-
-
-
-
4Gain-
FOXG1-
-
-
-
4Gain-
FOXK1-
-
-
-
4Gain-
FOXN3-
-
-
-
4Gain-
FOXP2-
-
-
-
4Gain-
FOXS1p.D95H
Missense
SNP
0.508
4Gain-
FPGS-
-
-
-
3Gain-
FREM1-
-
-
-
4Gain-
FRG2B-
-
-
-
3Gain-
FRMD3-
-
-
-
4Gain-
FRMD6-
-
-
-
4Gain-
FRMPD1-
-
-
-
3Gain-
FRRS1L-
-
-
-
4Gain-
FSCB-
-
-
-
4Gain-
FSCN1p.S234*
Nonsense
SNP
0.469
4Gain-
FSCN3-
-
-
-
4Gain-
FSD1L-
-
-
-
4Gain-
FSIP2p.L5887F
Missense
SNP
1.000
2--
FUBP3-
-
-
-
3Gain-
FUS-
-
-
-
3Gain-
FUT7-
-
-
-
3Gain-
FUT8-
-
-
-
4Gain-
FXN-
-
-
-
4Gain-
FZD1-
-
-
-
4Gain-
FZD9-
-
-
-
5Amp-
G0S2-
-
-
-
4Gain-
G2E3-
-
-
-
4Gain-
GABBR2-
-
-
-
4Gain-
GABPB2-
-
-
-
3Gain-
GADD45G-
-
-
-
4Gain-
GALC-
-
-
-
4Gain-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
4Gain-
GALNT12-
-
-
-
4Gain-
GALNT16-
-
-
-
4Gain-
GALNT17-
-
-
-
5Amp-
GALNT2-
-
-
-
4Gain-
GALNTL5-
-
-
-
4Gain-
GALT-
-
-
-
3Gain-
GAPVD1-
-
-
-
3Gain-
GARNL3-
-
-
-
3Gain-
GARS-
-
-
-
4Gain-
GAS1-
-
-
-
4Gain-
GATA5-
-
-
-
3Gain-
GATAD1-
-
-
-
4Gain-
GATAD2B-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
3Gain-
GBF1-
-
-
-
1Loss-
GBGT1-
-
-
-
4Gain-
GBX1-
-
-
-
4Gain-
GCC1-
-
-
-
4Gain-
GCH1-
-
-
-
4Gain-
GCK-
-
-
-
4Gain-
GCNT1-
-
-
-
3Gain-
GCNT7-
-
-
-
4Gain-
GCSAML-
-
-
-
4Gain-
GCSAML-AS1-
-
-
-
4Gain-
GDA-
-
-
-
4Gain-
GDAP1L1-
-
-
-
4Gain-
GDE1-
-
-
-
3Gain-
GDF5-
-
-
-
3Gain-
GDPD2p.R218K
Missense
SNP
0.394
NDND-
GDPD3-
-
-
-
3Gain-
GEMIN2-
-
-
-
4Gain-
GEMIN5-
-
-
-
1Loss-
GET4-
-
-
-
4Gain-
GFER-
-
-
-
4Gain-
GFI1B-
-
-
-
4Gain-
GFRA4-
-
-
-
3Gain-
GGA2-
-
-
-
3Gain-
GGCT-
-
-
-
4Gain-
GGPS1-
-
-
-
4Gain-
GGT7-
-
-
-
4Gain-
GGTLC1-
-
-
-
4Gain-
GHRH-
-
-
-
4Gain-
GHRHR-
-
-
-
4Gain-
GID8-
-
-
-
4Gain-
GIMAP1-
-
-
-
4Gain-
GIMAP1-GIMAP5-
-
-
-
4Gain-
GIMAP2-
-
-
-
4Gain-
GIMAP4-
-
-
-
4Gain-
GIMAP5-
-
-
-
4Gain-
GIMAP6-
-
-
-
4Gain-
GIMAP7-
-
-
-
4Gain-
GIMAP8-
-
-
-
4Gain-
GINS1-
-
-
-
4Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJB1p.R238C
Missense
SNP
0.451
NDND-
GJC2-
-
-
-
4Gain-
GKp.S180*
Nonsense
SNP
0.383
NDND-
GKAP1-
-
-
-
4Gain-
GLCCI1-
-
-
-
4Gain-
GLDC-
-
-
-
3Gain-
GLE1-
-
-
-
3Gain-
GLG1-
-
-
-
1Loss-
GLI3-
-
-
-
4Gain-
GLIPR2-
-
-
-
3Gain-
GLIS2-
-
-
-
4Gain-
GLIS3-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLRX2-
-
-
-
4Gain-
GLRX5-
-
-
-
4Gain-
GLT6D1-
-
-
-
4Gain-
GLT8D1-
-
-
-
1Loss-
GLUL-
-
-
-
4Gain-
GLYR1-
-
-
-
4Gain-
GMEB2-
-
-
-
3Gain-
GMFB-
-
-
-
4Gain-
GMPR2-
-
-
-
3Gain-
GNA12-
-
-
-
4Gain-
GNA14-
-
-
-
4Gain-
GNAI1-
-
-
-
3Gain-
GNAQ-
-
-
-
4Gain-
GNAS-
-
-
-
4Gain-
GNAT3-
-
-
-
3Gain-
GNE-
-
-
-
3Gain-
GNG10-
-
-
-
4Gain-
GNG11-
-
-
-
4Gain-
GNG13-
-
-
-
4Gain-
GNG2-
-
-
-
4Gain-
GNG4-
-
-
-
4Gain-
GNGT1-
-
-
-
4Gain-
GNL3-
-
-
-
1Loss-
GNMT-
-
-
-
1Loss-
GNPAT-
-
-
-
4Gain-
GNPNAT1-
-
-
-
4Gain-
GNPTG-
-
-
-
4Gain-
GNRH2-
-
-
-
4Gain-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLGA3p.E760K
Missense
SNP
1.000
2--
GOLGA5-
-
-
-
4Gain-
GOLGB1-
-
-
-
1Loss-
GOLM1-
-
-
-
4Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GON7-
-
-
-
4Gain-
GORAB-
-
-
-
4Gain-
GP2-
-
-
-
3Gain-
GPA33-
-
-
-
4Gain-
GPATCH2-
-
-
-
4Gain-
GPATCH2L-
-
-
-
4Gain-
GPATCH4-
-
-
-
3Gain-
GPATCH8-
-
-
-
1Loss-
GPC4p.K474N
Missense
SNP
0.604
NDND-
GPCPD1-
-
-
-
3Gain-
GPER1-
-
-
-
4Gain-
GPHB5-
-
-
-
4Gain-
GPHNp.E178Q
Missense
SNP
0.429
4Gain-
GPN2p.P6A
Missense
SNP
1.000
2--
GPNMB-
-
-
-
4Gain-
GPR107-
-
-
-
3Gain-
GPR132-
-
-
-
4Gain-
GPR135-
-
-
-
4Gain-
GPR137B-
-
-
-
4Gain-
GPR137C-
-
-
-
4Gain-
GPR139-
-
-
-
3Gain-
GPR161-
-
-
-
4Gain-
GPR21-
-
-
-
3Gain-
GPR22-
-
-
-
4Gain-
GPR25-
-
-
-
3Gain-
GPR33-
-
-
-
4Gain-
GPR37-
-
-
-
4Gain-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
4Gain-
GPR65-
-
-
-
4Gain-
GPR68-
-
-
-
4Gain-
GPR85-
-
-
-
4Gain-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5B-
-
-
-
3Gain-
GPSM1-
-
-
-
4Gain-
GPX2p.E155Q
Missense
SNP
0.474
4Gain-
GRB10-
-
-
-
4Gain-
GREM2-
-
-
-
4Gain-
GRHL1p.S519C
Missense
SNP
1.000
2--
GRHPR-
-
-
-
3Gain-
GRID2IP-
-
-
-
4Gain-
GRIFIN-
-
-
-
4Gain-
GRIN1-
-
-
-
3Gain-
GRIN2A-
-
-
-
4Gain-
GRIN3A-
-
-
-
4Gain-
GRM3-
-
-
-
4Gain-
GRM8-
-
-
-
4Gain-
GSAP-
-
-
-
3Gain-
GSC-
-
-
-
4Gain-
GSDME-
-
-
-
4Gain-
GSG1L-
-
-
-
3Gain-
GSKIP-
-
-
-
4Gain-
GSN-
-
-
-
3Gain-
GSPT1-
-
-
-
4Gain-
GSS-
-
-
-
4Gain-
GSTK1-
-
-
-
4Gain-
GSTZ1-
-
-
-
4Gain-
GTF2A1-
-
-
-
4Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C1p.G1900E
Missense
SNP
0.345
3Gain-
GTF3C4-
-
-
-
4Gain-
GTF3C5-
-
-
-
4Gain-
GTPBP10-
-
-
-
4Gain-
GTPBP2-
-
-
-
1Loss-
GTSF1L-
-
-
-
4Gain-
GUK1-
-
-
-
4Gain-
GUSB-
-
-
-
5Amp-
GYG2p.L139V
Missense
SNP
0.520
NDND-
GZF1-
-
-
-
4Gain-
GZMB-
-
-
-
4Gain-
GZMH-
-
-
-
4Gain-
H2AFV-
-
-
-
4Gain-
H3F3A-
-
-
-
4Gain-
HABP4-
-
-
-
4Gain-
HACD4-
-
-
-
3Gain-
HAGH-
-
-
-
4Gain-
HAGHL-
-
-
-
4Gain-
HAND1-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAUS4-
-
-
-
3Gain-
HAUS6-
-
-
-
3Gain-
HAX1-
-
-
-
4Gain-
HBA1-
-
-
-
4Gain-
HBA2-
-
-
-
4Gain-
HBM-
-
-
-
4Gain-
HBP1-
-
-
-
4Gain-
HBQ1-
-
-
-
4Gain-
HBZ-
-
-
-
4Gain-
HCFC1R1-
-
-
-
4Gain-
HCK-
-
-
-
4Gain-
HCLS1-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HDAC9-
-
-
-
4Gain-
HDGF-
-
-
-
3Gain-
HDHD3-
-
-
-
4Gain-
HEATR1-
-
-
-
4Gain-
HEATR4-
-
-
-
4Gain-
HEATR5A-
-
-
-
3Gain-
HECTD1-
-
-
-
4Gain-
HECW1-
-
-
-
4Gain-
HELZ2p.F2439L
Missense
SNP
0.417
3Gain-
HEMGN-
-
-
-
4Gain-
HEPACAM2-
-
-
-
4Gain-
HERPUD2-
-
-
-
4Gain-
HGF-
-
-
-
3Gain-
HHAT-
-
-
-
4Gain-
HHIPL1-
-
-
-
5Amp-
HHIPL2-
-
-
-
4Gain-
HIBADH-
-
-
-
4Gain-
HIF1A-
-
-
-
4Gain-
HILPDA-
-
-
-
3Gain-
HINT2-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIPK2-
-
-
-
4Gain-
HIRIP3-
-
-
-
3Gain-
HIST2H2AA3-
-
-
-
5Amp-
HIST2H2AA4-
-
-
-
5Amp-
HIST2H2AB-
-
-
-
5Amp-
HIST2H2AC-
-
-
-
5Amp-
HIST2H2BE-
-
-
-
5Amp-
HIST2H2BF-
-
-
-
5Amp-
HIST2H3A-
-
-
-
5Amp-
HIST2H3C-
-
-
-
5Amp-
HIST2H3D-
-
-
-
5Amp-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
5Amp-
HIST2H4B-
-
-
-
5Amp-
HIST3H2A-
-
-
-
4Gain-
HIST3H2BB-
-
-
-
4Gain-
HIST3H3-
-
-
-
4Gain-
HJV-
-
-
-
3Gain-
HLX-
-
-
-
4Gain-
HM13-
-
-
-
4Gain-
HMCN1-
-
-
-
4Gain-
HMCN2-
-
-
-
3Gain-
HMOX2-
-
-
-
4Gain-
HNF4A-
-
-
-
4Gain-
HNRNPA2B1-
-
-
-
4Gain-
HNRNPC-
-
-
-
3Gain-
HNRNPH1-
-
-
-
1Loss-
HNRNPK-
-
-
-
3Gain-
HNRNPU-
-
-
-
4Gain-
HOMEZ-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HOXA1-
-
-
-
4Gain-
HOXA10-
-
-
-
4Gain-
HOXA11-
-
-
-
4Gain-
HOXA13-
-
-
-
4Gain-
HOXA2-
-
-
-
4Gain-
HOXA3-
-
-
-
4Gain-
HOXA4-
-
-
-
4Gain-
HOXA5-
-
-
-
4Gain-
HOXA6-
-
-
-
4Gain-
HOXA7-
-
-
-
4Gain-
HOXA9-
-
-
-
4Gain-
HRCp.E581*
Nonsense
SNP
1.000
2--
HRCT1-
-
-
-
3Gain-
HRH3p.D7H
Missense
SNP
0.508
4Gain-
HRNR-
-
-
-
5Amp-
HS3ST2-
-
-
-
3Gain-
HS3ST3A1p.F271L
Missense
SNP
0.440
2--
HS3ST4-
-
-
-
4Gain-
HS3ST6-
-
-
-
4Gain-
HSD11B1-
-
-
-
4Gain-
HSD17B3-
-
-
-
4Gain-
HSD17B7-
-
-
-
4Gain-
HSD3B7-
-
-
-
3Gain-
HSDL2-
-
-
-
4Gain-
HSF4p.E477K
Missense
SNP
1.000
2--
HSP90AA1-
-
-
-
4Gain-
HSPA12B-
-
-
-
3Gain-
HSPA2-
-
-
-
4Gain-
HSPA5-
-
-
-
3Gain-
HSPA6-
-
-
-
4Gain-
HSPB1-
-
-
-
3Gain-
HTR1Ap.E257K
Missense
SNP
1.000
2--
HTR5A-
-
-
-
4Gain-
HUS1-
-
-
-
4Gain-
HYAL4-
-
-
-
4Gain-
HYKKp.R195G
Missense
SNP
1.000
2--
IARS-
-
-
-
4Gain-
IARS2-
-
-
-
4Gain-
IBA57-
-
-
-
4Gain-
ICA1-
-
-
-
4Gain-
ID1-
-
-
-
4Gain-
IDH3B-
-
-
-
4Gain-
IDNK-
-
-
-
4Gain-
IER5-
-
-
-
4Gain-
IER5L-
-
-
-
3Gain-
IFI16-
-
-
-
4Gain-
IFI27-
-
-
-
4Gain-
IFI27L1-
-
-
-
4Gain-
IFI27L2-
-
-
-
4Gain-
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-
IFRD1-
-
-
-
4Gain-
IFT140-
-
-
-
4Gain-
IFT43-
-
-
-
4Gain-
IFT52-
-
-
-
4Gain-
IFT74-
-
-
-
3Gain-
IGF2BP3-
-
-
-
4Gain-
IGFALS-
-
-
-
4Gain-
IGFBP1-
-
-
-
4Gain-
IGFBP3-
-
-
-
4Gain-
IGFBPL1-
-
-
-
3Gain-
IGFN1p.E2885K
Missense
SNP
0.475
3Gain-
IGSF6-
-
-
-
4Gain-
IGSF8-
-
-
-
4Gain-
IGSF9-
-
-
-
4Gain-
IKBKE-
-
-
-
4Gain-
IKZF1-
-
-
-
4Gain-
IL10-
-
-
-
4Gain-
IL11RA-
-
-
-
3Gain-
IL19-
-
-
-
4Gain-
IL20-
-
-
-
4Gain-
IL21R-
-
-
-
3Gain-
IL24-
-
-
-
4Gain-
IL25-
-
-
-
5Amp-
IL27-
-
-
-
3Gain-
IL32-
-
-
-
4Gain-
IL33-
-
-
-
3Gain-
IL4R-
-
-
-
3Gain-
IL6-
-
-
-
4Gain-
IL6R-
-
-
-
4Gain-
ILDR2-
-
-
-
4Gain-
ILF2-
-
-
-
3Gain-
IMMP2L-
-
-
-
4Gain-
IMPDH1-
-
-
-
3Gain-
INAVA-
-
-
-
3Gain-
INF2-
-
-
-
4Gain-
ING3-
-
-
-
4Gain-
INHBA-
-
-
-
4Gain-
INIP-
-
-
-
4Gain-
INMT-
-
-
-
4Gain-
INMT-MINDY4-
-
-
-
4Gain-
INO80E-
-
-
-
3Gain-
INPP5E-
-
-
-
3Gain-
INSIG1-
-
-
-
4Gain-
INSL4-
-
-
-
3Gain-
INSL6-
-
-
-
3Gain-
INSM1-
-
-
-
4Gain-
INSM2-
-
-
-
4Gain-
INSRR-
-
-
-
4Gain-
INTS1-
-
-
-
4Gain-
INTS3-
-
-
-
3Gain-
INTS7-
-
-
-
4Gain-
INVS-
-
-
-
4Gain-
IPO4-
-
-
-
3Gain-
IPO9-
-
-
-
3Gain-
IPPK-
-
-
-
4Gain-
IQCB1-
-
-
-
1Loss-
IQCE-
-
-
-
4Gain-
IQCK-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQUB-
-
-
-
4Gain-
IRF2BP2-
-
-
-
4Gain-
IRF2BPL-
-
-
-
4Gain-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
4Gain-
IRF9-
-
-
-
3Gain-
ISCA1-
-
-
-
4Gain-
ISCA2-
-
-
-
4Gain-
ISG20L2-
-
-
-
3Gain-
ISM1-
-
-
-
4Gain-
ISM2-
-
-
-
4Gain-
ISPD-
-
-
-
4Gain-
ITCH-
-
-
-
4Gain-
ITGA10-
-
-
-
3Gain-
ITGAD-
-
-
-
3Gain-
ITGAL-
-
-
-
3Gain-
ITGAM-
-
-
-
3Gain-
ITGAX-
-
-
-
3Gain-
ITGB8-
-
-
-
4Gain-
ITLN1-
-
-
-
4Gain-
ITLN2-
-
-
-
4Gain-
ITPA-
-
-
-
4Gain-
ITPK1-
-
-
-
4Gain-
ITPKBp.M20I
Missense
SNP
0.428
4Gain-
ITPRID1-
-
-
-
4Gain-
ITPRIPL2-
-
-
-
3Gain-
IVL-
-
-
-
5Amp-
IVNS1ABP-
-
-
-
4Gain-
IZUMO3-
-
-
-
3Gain-
JAG1-
-
-
-
4Gain-
JAG2-
-
-
-
4Gain-
JAK2-
-
-
-
3Gain-
JAZF1-
-
-
-
4Gain-
JDP2-
-
-
-
4Gain-
JKAMP-
-
-
-
4Gain-
JMJD4-
-
-
-
4Gain-
JMJD8-
-
-
-
4Gain-
JPH2-
-
-
-
4Gain-
JPH4-
-
-
-
5Amp-
JPT2-
-
-
-
4Gain-
JTB-
-
-
-
3Gain-
JUNp.E106K
Missense
SNP
1.000
2--
KANK1-
-
-
-
3Gain-
KAT14-
-
-
-
4Gain-
KAT2Ap.R491C
Missense
SNP
1.000
2--
KAT8-
-
-
-
3Gain-
KBTBD2-
-
-
-
4Gain-
KCNB1-
-
-
-
4Gain-
KCND2-
-
-
-
4Gain-
KCNE5p.G106E
Missense
SNP
0.474
NDND-
KCNG1-
-
-
-
4Gain-
KCNH1-
-
-
-
4Gain-
KCNH2-
-
-
-
4Gain-
KCNH5-
-
-
-
4Gain-
KCNH8p.D47N
Missense
SNP
1.000
2--
KCNJ10-
-
-
-
4Gain-
KCNJ9-
-
-
-
4Gain-
KCNK1-
-
-
-
4Gain-
KCNK10-
-
-
-
4Gain-
KCNK13-
-
-
-
4Gain-
KCNK15-
-
-
-
4Gain-
KCNK2-
-
-
-
4Gain-
KCNN3-
-
-
-
4Gain-
KCNQ2-
-
-
-
4Gain-
KCNS1-
-
-
-
4Gain-
KCNT1-
-
-
-
4Gain-
KCNT2-
-
-
-
4Gain-
KCNV2-
-
-
-
3Gain-
KCP-
-
-
-
3Gain-
KCTD13-
-
-
-
3Gain-
KCTD3-
-
-
-
4Gain-
KCTD5-
-
-
-
4Gain-
KCTD7-
-
-
-
5Amp-
KDELR2-
-
-
-
4Gain-
KDM4C-
-
-
-
3Gain-
KDM5B-
-
-
-
3Gain-
KDM7A-
-
-
-
4Gain-
KDM8-
-
-
-
3Gain-
KEL-
-
-
-
4Gain-
KHDC4-
-
-
-
3Gain-
KHNYN-
-
-
-
4Gain-
KIAA0040-
-
-
-
4Gain-
KIAA0391-
-
-
-
4Gain-
KIAA0556-
-
-
-
3Gain-
KIAA0586-
-
-
-
4Gain-
KIAA0895-
-
-
-
4Gain-
KIAA1147-
-
-
-
4Gain-
KIAA1324L-
-
-
-
4Gain-
KIAA1549-
-
-
-
4Gain-
KIAA1614-
-
-
-
4Gain-
KIAA1755-
-
-
-
4Gain-
KIAA1841-
-
-
-
1Loss-
KIAA1958-
-
-
-
4Gain-
KIAA2026p.P1666A
Missense
SNP
0.586
3Gain-
KIF12-
-
-
-
4Gain-
KIF14-
-
-
-
3Gain-
KIF16B-
-
-
-
4Gain-
KIF21B-
-
-
-
3Gain-
KIF22-
-
-
-
3Gain-
KIF24-
-
-
-
3Gain-
KIF26A-
-
-
-
4Gain-
KIF26B-
-
-
-
4Gain-
KIF27-
-
-
-
3Gain-
KIF3B-
-
-
-
4Gain-
KIFAP3-
-
-
-
4Gain-
KIRREL1-
-
-
-
4Gain-
KISS1-
-
-
-
3Gain-
KIZ-
-
-
-
4Gain-
KLC1-
-
-
-
4Gain-
KLF14-
-
-
-
4Gain-
KLF4-
-
-
-
4Gain-
KLF9-
-
-
-
4Gain-
KLHDC1-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC2-
-
-
-
3Gain-
KLHDC3-
-
-
-
1Loss-
KLHDC8A-
-
-
-
4Gain-
KLHDC9-
-
-
-
4Gain-
KLHL12-
-
-
-
3Gain-
KLHL13p.A522V
Missense
SNP
0.055
NDND-
KLHL20-
-
-
-
4Gain-
KLHL28-
-
-
-
4Gain-
KLHL33-
-
-
-
3Gain-
KLHL7-
-
-
-
4Gain-
KLHL9-
-
-
-
3Gain-
KLK12p.E106*
Nonsense
SNP
1.000
2--
KLRG2-
-
-
-
4Gain-
KMO-
-
-
-
4Gain-
KMT2C-
-
-
-
4Gain-
KNOP1-
-
-
-
3Gain-
KPRP-
-
-
-
5Amp-
KRBA1-
-
-
-
4Gain-
KREMEN2-
-
-
-
4Gain-
KRIT1-
-
-
-
4Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRTAP1-1-
-
-
-
3Gain-
KRTAP1-3-
-
-
-
3Gain-
KRTAP1-4-
-
-
-
3Gain-
KRTAP1-5-
-
-
-
3Gain-
KRTAP2-2-
-
-
-
3Gain-
KRTAP29-1-
-
-
-
3Gain-
KRTAP4-1-
-
-
-
3Gain-
KRTAP4-11-
-
-
-
3Gain-
KRTAP4-12-
-
-
-
3Gain-
KRTAP4-16-
-
-
-
3Gain-
KRTAP4-2-
-
-
-
3Gain-
KRTAP4-3-
-
-
-
3Gain-
KRTAP4-4-
-
-
-
3Gain-
KRTAP4-5-
-
-
-
3Gain-
KRTAP4-6-
-
-
-
3Gain-
KRTAP4-7-
-
-
-
3Gain-
KRTAP4-8-
-
-
-
3Gain-
KRTAP4-9-
-
-
-
3Gain-
KRTAP9-1-
-
-
-
3Gain-
KRTAP9-2-
-
-
-
3Gain-
KRTAP9-3-
-
-
-
3Gain-
KRTAP9-4-
-
-
-
3Gain-
KRTAP9-6-
-
-
-
3Gain-
KRTAP9-7-
-
-
-
3Gain-
KRTAP9-9-
-
-
-
3Gain-
KRTCAP2-
-
-
-
4Gain-
KTN1-
-
-
-
4Gain-
KYAT1-
-
-
-
3Gain-
L2HGDH-
-
-
-
4Gain-
L3HYPDH-
-
-
-
4Gain-
L3MBTL1-
-
-
-
4Gain-
LAD1-
-
-
-
3Gain-
LAMA5-
-
-
-
3Gain-
LAMB1-
-
-
-
4Gain-
LAMB3-
-
-
-
4Gain-
LAMB4-
-
-
-
4Gain-
LAMC1-
-
-
-
4Gain-
LAMC2-
-
-
-
4Gain-
LAMC3-
-
-
-
3Gain-
LAMP5-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LANCL2-
-
-
-
4Gain-
LARP1-
-
-
-
1Loss-
LARP6p.E400Q
Missense
SNP
1.000
2--
LAT-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LAX1-
-
-
-
5Amp-
LBP-
-
-
-
4Gain-
LBR-
-
-
-
4Gain-
LCE1A-
-
-
-
5Amp-
LCE1B-
-
-
-
5Amp-
LCE1C-
-
-
-
5Amp-
LCE1D-
-
-
-
5Amp-
LCE1E-
-
-
-
5Amp-
LCE1F-
-
-
-
5Amp-
LCE2A-
-
-
-
5Amp-
LCE2B-
-
-
-
5Amp-
LCE2C-
-
-
-
5Amp-
LCE2D-
-
-
-
5Amp-
LCE3A-
-
-
-
5Amp-
LCE3D-
-
-
-
5Amp-
LCE3E-
-
-
-
5Amp-
LCE4A-
-
-
-
5Amp-
LCE5A-
-
-
-
5Amp-
LCE6A-
-
-
-
5Amp-
LCMT1-
-
-
-
4Gain-
LCN1-
-
-
-
4Gain-
LCN10-
-
-
-
3Gain-
LCN12-
-
-
-
3Gain-
LCN15-
-
-
-
3Gain-
LCN2-
-
-
-
3Gain-
LCN6-
-
-
-
3Gain-
LCN8-
-
-
-
3Gain-
LCN9-
-
-
-
4Gain-
LCNL1-
-
-
-
3Gain-
LCORLp.R1593T
Missense
SNP
1.000
2--
LDOC1p.E79K
Missense
SNP
0.472
NDND-
LEFTY1-
-
-
-
4Gain-
LEFTY2-
-
-
-
4Gain-
LELP1-
-
-
-
5Amp-
LEMD1-
-
-
-
4Gain-
LENEP-
-
-
-
4Gain-
LEP-
-
-
-
4Gain-
LFNG-
-
-
-
4Gain-
LGALS3-
-
-
-
4Gain-
LGALS8-
-
-
-
4Gain-
LGMN-
-
-
-
4Gain-
LGR6-
-
-
-
3Gain-
LHX2-
-
-
-
3Gain-
LHX3-
-
-
-
4Gain-
LHX4-
-
-
-
4Gain-
LHX6-
-
-
-
3Gain-
LHX9-
-
-
-
4Gain-
LIME1-
-
-
-
4Gain-
LIMK1-
-
-
-
3Gain-
LIN28Ap.E22K
Missense
SNP
1.000
2--
LIN52-
-
-
-
4Gain-
LIN9-
-
-
-
4Gain-
LINGO2-
-
-
-
3Gain-
LINGO4-
-
-
-
5Amp-
LITAF-
-
-
-
4Gain-
LIX1L-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
4Gain-
LLCFC1-
-
-
-
4Gain-
LMBR1-
-
-
-
4Gain-
LMF1-
-
-
-
4Gain-
LMNA-
-
-
-
3Gain-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
4Gain-
LMX1A-
-
-
-
4Gain-
LMX1B-
-
-
-
3Gain-
LOR-
-
-
-
5Amp-
LPAR1-
-
-
-
4Gain-
LPGAT1-
-
-
-
4Gain-
LPIN3-
-
-
-
4Gain-
LRFN5-
-
-
-
4Gain-
LRGUK-
-
-
-
4Gain-
LRP10-
-
-
-
3Gain-
LRR1-
-
-
-
4Gain-
LRRC19-
-
-
-
3Gain-
LRRC26-
-
-
-
3Gain-
LRRC4-
-
-
-
4Gain-
LRRC52-
-
-
-
4Gain-
LRRC61-
-
-
-
4Gain-
LRRC71-
-
-
-
4Gain-
LRRC72-
-
-
-
4Gain-
LRRC74A-
-
-
-
4Gain-
LRRC8A-
-
-
-
3Gain-
LRRD1-
-
-
-
4Gain-
LRRN2-
-
-
-
4Gain-
LRRN3-
-
-
-
4Gain-
LRRN4-
-
-
-
3Gain-
LRSAM1-
-
-
-
3Gain-
LSM14B-
-
-
-
4Gain-
LSM5-
-
-
-
4Gain-
LSM8-
-
-
-
4Gain-
LSMEM1-
-
-
-
4Gain-
LTB4R-
-
-
-
4Gain-
LTB4R2-
-
-
-
4Gain-
LTBP2-
-
-
-
4Gain-
LUC7L-
-
-
-
4Gain-
LUC7L2p.K37N
Missense
SNP
0.442
4Gain-
LURAP1L-
-
-
-
4Gain-
LUZP6-
-
-
-
4Gain-
LY9-
-
-
-
4Gain-
LYPD8-
-
-
-
4Gain-
LYPLAL1-
-
-
-
4Gain-
LYRM1-
-
-
-
4Gain-
LYSMD1-
-
-
-
3Gain-
LYST-
-
-
-
4Gain-
LZTS3-
-
-
-
4Gain-
MACC1-
-
-
-
4Gain-
MACROD2-
-
-
-
4Gain-
MAD1L1-
-
-
-
4Gain-
MAD2L1BP-
-
-
-
1Loss-
MAEL-
-
-
-
4Gain-
MAFB-
-
-
-
4Gain-
MAFK-
-
-
-
4Gain-
MAGI2-
-
-
-
3Gain-
MALSU1-
-
-
-
4Gain-
MAMDC2-
-
-
-
4Gain-
MAMDC4-
-
-
-
3Gain-
MAN1B1-
-
-
-
3Gain-
MANBAL-
-
-
-
4Gain-
MAP10-
-
-
-
4Gain-
MAP1LC3A-
-
-
-
4Gain-
MAP1LC3C-
-
-
-
4Gain-
MAP2K2p.N199K
Missense
SNP
1.000
2--
MAP3K12p.I523M
Missense
SNP
1.000
2--
MAP3K21-
-
-
-
4Gain-
MAP3K9-
-
-
-
4Gain-
MAP4K5-
-
-
-
4Gain-
MAP7D2p.G20E
Missense
SNP
0.414
NDND-
MAPK1IP1L-
-
-
-
4Gain-
MAPK3-
-
-
-
3Gain-
MAPK8IP3-
-
-
-
4Gain-
MAPKAP1-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
4Gain-
MAPRE1-
-
-
-
4Gain-
MARC1-
-
-
-
4Gain-
MARC2-
-
-
-
4Gain-
MARF1-
-
-
-
4Gain-
MARK1-
-
-
-
4Gain-
MARK3-
-
-
-
4Gain-
MATN4-
-
-
-
4Gain-
MAVS-
-
-
-
3Gain-
MAX-
-
-
-
4Gain-
MAZ-
-
-
-
3Gain-
MBIP-
-
-
-
4Gain-
MC3R-
-
-
-
4Gain-
MCL1-
-
-
-
3Gain-
MCM8-
-
-
-
3Gain-
MCRIP2-
-
-
-
4Gain-
MDFIC-
-
-
-
4Gain-
MDGA2-
-
-
-
4Gain-
MDH2-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
MDP1-
-
-
-
3Gain-
MEA1-
-
-
-
1Loss-
MED15p.Q162*
Nonsense
SNP
1.000
2--
MED22-
-
-
-
4Gain-
MED27-
-
-
-
4Gain-
MED6-
-
-
-
4Gain-
MEF2D-
-
-
-
3Gain-
MEFV-
-
-
-
4Gain-
MEGF9-
-
-
-
3Gain-
MEIOB-
-
-
-
4Gain-
MELK-
-
-
-
3Gain-
MEOX2-
-
-
-
4Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
4Gain-
METRN-
-
-
-
4Gain-
METTL11B-
-
-
-
4Gain-
METTL13-
-
-
-
4Gain-
METTL17-
-
-
-
3Gain-
METTL18-
-
-
-
4Gain-
METTL22-
-
-
-
4Gain-
METTL26-
-
-
-
4Gain-
METTL27-
-
-
-
5Amp-
METTL2B-
-
-
-
3Gain-
METTL3-
-
-
-
3Gain-
METTL9-
-
-
-
4Gain-
MEX3A-
-
-
-
3Gain-
MFAP3-
-
-
-
1Loss-
MFSD14B-
-
-
-
4Gain-
MFSD14C-
-
-
-
4Gain-
MFSD4A-
-
-
-
4Gain-
MGAM-
-
-
-
4Gain-
MGAT2-
-
-
-
4Gain-
MGME1-
-
-
-
4Gain-
MGRN1-
-
-
-
4Gain-
MGST3-
-
-
-
4Gain-
MIA2-
-
-
-
4Gain-
MIA3-
-
-
-
4Gain-
MICALL2-
-
-
-
4Gain-
MICU2p.F318L
Missense
SNP
1.000
2--
MIGA2-
-
-
-
3Gain-
MINDY1-
-
-
-
3Gain-
MINDY4-
-
-
-
4Gain-
MIOS-
-
-
-
4Gain-
MIPOL1-
-
-
-
4Gain-
MIS18BP1-
-
-
-
4Gain-
MIXL1-
-
-
-
4Gain-
MKKS-
-
-
-
4Gain-
MKLN1-
-
-
-
4Gain-
MKRN1-
-
-
-
4Gain-
MLANA-
-
-
-
3Gain-
MLH3-
-
-
-
4Gain-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
3Gain-
MLST8-
-
-
-
4Gain-
MLXIPL-
-
-
-
5Amp-
MMD2-
-
-
-
4Gain-
MMP14-
-
-
-
3Gain-
MMP24-
-
-
-
4Gain-
MMP25-
-
-
-
4Gain-
MMP27p.T231Qfs*3
Frame_Shift_Del
DEL
0.952
2--
MMP9-
-
-
-
4Gain-
MNAT1-
-
-
-
4Gain-
MNDA-
-
-
-
4Gain-
MNX1-
-
-
-
4Gain-
MOB3B-
-
-
-
3Gain-
MOCS3-
-
-
-
4Gain-
MOK-
-
-
-
4Gain-
MORN5-
-
-
-
3Gain-
MOSMO-
-
-
-
4Gain-
MPC2-
-
-
-
4Gain-
MPDZ-
-
-
-
4Gain-
MPG-
-
-
-
4Gain-
MPLKIP-
-
-
-
4Gain-
MPP5-
-
-
-
4Gain-
MPP6-
-
-
-
4Gain-
MPV17L-
-
-
-
4Gain-
MPZ-
-
-
-
4Gain-
MPZL1-
-
-
-
4Gain-
MR1-
-
-
-
4Gain-
MRGBP-
-
-
-
3Gain-
MRM2-
-
-
-
4Gain-
MROH8-
-
-
-
4Gain-
MROH9-
-
-
-
4Gain-
MRPL24-
-
-
-
3Gain-
MRPL28-
-
-
-
4Gain-
MRPL32-
-
-
-
4Gain-
MRPL41-
-
-
-
3Gain-
MRPL50-
-
-
-
4Gain-
MRPL52-
-
-
-
3Gain-
MRPL55-
-
-
-
4Gain-
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
4Gain-
MRPS17-
-
-
-
3Gain-
MRPS18A-
-
-
-
1Loss-
MRPS2-
-
-
-
4Gain-
MRPS21-
-
-
-
3Gain-
MRPS24-
-
-
-
4Gain-
MRPS26-
-
-
-
4Gain-
MRPS33-
-
-
-
4Gain-
MRPS34-
-
-
-
4Gain-
MRRF-
-
-
-
3Gain-
MRTFB-
-
-
-
4Gain-
MSANTD3-
-
-
-
4Gain-
MSANTD3-TMEFF1-
-
-
-
4Gain-
MSLN-
-
-
-
4Gain-
MSMP-
-
-
-
3Gain-
MSRB1-
-
-
-
4Gain-
MSTO1-
-
-
-
3Gain-
MT1HL1-
-
-
-
4Gain-
MTA1-
-
-
-
4Gain-
MTAP-
-
-
-
3Gain-
MTERF1-
-
-
-
4Gain-
MTG2-
-
-
-
4Gain-
MTHFD1-
-
-
-
4Gain-
MTMR11-
-
-
-
3Gain-
MTMR8p.E535K
Missense
SNP
0.467
NDND-
MTPN-
-
-
-
4Gain-
MTR-
-
-
-
4Gain-
MTRF1Lp.L129F
Missense
SNP
1.000
2--
MTRNR2L1-
-
-
-
1Loss-
MTRNR2L3-
-
-
-
4Gain-
MTRNR2L4-
-
-
-
4Gain-
MTRNR2L6-
-
-
-
4Gain-
MTURN-
-
-
-
4Gain-
MTX1-
-
-
-
4Gain-
MUC1-
-
-
-
4Gain-
MUC4p.L2433V
p.L1969V
Missense
Missense
SNP
SNP
0.218
0.296
2--
MUSK-
-
-
-
4Gain-
MVB12B-
-
-
-
3Gain-
MVP-
-
-
-
3Gain-
MYBL2-
-
-
-
4Gain-
MYBPH-
-
-
-
5Amp-
MYH11-
-
-
-
4Gain-
MYH6-
-
-
-
5Amp-
MYH7-
-
-
-
5Amp-
MYH7B-
-
-
-
4Gain-
MYL7-
-
-
-
4Gain-
MYL9-
-
-
-
4Gain-
MYLK2-
-
-
-
4Gain-
MYLPF-
-
-
-
3Gain-
MYMK-
-
-
-
4Gain-
MYO18Bp.M1871I
Missense
SNP
1.000
2--
MYO1G-
-
-
-
4Gain-
MYOC-
-
-
-
4Gain-
MYOCOS-
-
-
-
4Gain-
MYOG-
-
-
-
5Amp-
MYORG-
-
-
-
3Gain-
MYT1-
-
-
-
4Gain-
NAA20-
-
-
-
4Gain-
NAA30-
-
-
-
4Gain-
NAA35-
-
-
-
4Gain-
NAA60-
-
-
-
4Gain-
NACAD-
-
-
-
4Gain-
NACC2-
-
-
-
4Gain-
NAGPA-
-
-
-
4Gain-
NAIF1-
-
-
-
3Gain-
NANP-
-
-
-
4Gain-
NANS-
-
-
-
4Gain-
NAPB-
-
-
-
4Gain-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCAPG2-
-
-
-
4Gain-
NCBP1-
-
-
-
4Gain-
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
4Gain-
NCOA3-
-
-
-
4Gain-
NCOA5-
-
-
-
4Gain-
NCOA6-
-
-
-
4Gain-
NCS1-
-
-
-
3Gain-
NCSTN-
-
-
-
4Gain-
NDE1-
-
-
-
4Gain-
NDOR1-
-
-
-
3Gain-
NDRG2-
-
-
-
3Gain-
NDRG3-
-
-
-
4Gain-
NDST4p.P655S
Missense
SNP
1.000
2--
NDUFA4-
-
-
-
4Gain-
NDUFA5-
-
-
-
4Gain-
NDUFA8-
-
-
-
3Gain-
NDUFAB1-
-
-
-
3Gain-
NDUFAF5-
-
-
-
4Gain-
NDUFB1-
-
-
-
4Gain-
NDUFB10-
-
-
-
4Gain-
NDUFB2-
-
-
-
4Gain-
NDUFB6-
-
-
-
3Gain-
NDUFS2-
-
-
-
4Gain-
NECAB3-
-
-
-
4Gain-
NECTIN4-
-
-
-
4Gain-
NEDD8-
-
-
-
3Gain-
NEDD8-MDP1-
-
-
-
3Gain-
NEK2-
-
-
-
4Gain-
NEK4-
-
-
-
1Loss-
NEK6-
-
-
-
3Gain-
NEK7-
-
-
-
4Gain-
NEK9-
-
-
-
4Gain-
NELFB-
-
-
-
3Gain-
NELFCD-
-
-
-
4Gain-
NEMF-
-
-
-
3Gain-
NENF-
-
-
-
4Gain-
NES-
-
-
-
3Gain-
NEURL2-
-
-
-
4Gain-
NEUROD6-
-
-
-
4Gain-
NF1p.E1192*
Nonsense
SNP
1.000
2--
NFASC-
-
-
-
4Gain-
NFATC2-
-
-
-
4Gain-
NFATC2IP-
-
-
-
3Gain-
NFATC4-
-
-
-
4Gain-
NFE2L3-
-
-
-
4Gain-
NFIB-
-
-
-
4Gain-
NFIL3-
-
-
-
4Gain-
NFKBIA-
-
-
-
4Gain-
NFS1-
-
-
-
3Gain-
NFX1-
-
-
-
3Gain-
NGB-
-
-
-
4Gain-
NGDN-
-
-
-
5Amp-
NHLH1-
-
-
-
4Gain-
NHLRC4-
-
-
-
4Gain-
NHSp.Q82*
Nonsense
SNP
0.481
NDND-
NID1-
-
-
-
4Gain-
NID2-
-
-
-
4Gain-
NIN-
-
-
-
4Gain-
NINJ1-
-
-
-
4Gain-
NINL-
-
-
-
4Gain-
NIPBLp.E1847K
Missense
SNP
1.000
2--
NIPSNAP2-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
4Gain-
NIPSNAP3B-
-
-
-
4Gain-
NIT1-
-
-
-
4Gain-
NKAIN4-
-
-
-
4Gain-
NKX2-1-
-
-
-
4Gain-
NKX2-2-
-
-
-
4Gain-
NKX2-4-
-
-
-
4Gain-
NKX2-8-
-
-
-
4Gain-
NLRC3-
-
-
-
4Gain-
NLRP3-
-
-
-
4Gain-
NME3-
-
-
-
4Gain-
NME4-
-
-
-
4Gain-
NME7-
-
-
-
4Gain-
NME8-
-
-
-
4Gain-
NMNAT2-
-
-
-
4Gain-
NMRAL1-
-
-
-
4Gain-
NMRK1-
-
-
-
3Gain-
NNAT-
-
-
-
4Gain-
NOBOX-
-
-
-
4Gain-
NOD1p.S440I
Missense
SNP
0.506
4Gain-
NOL4L-
-
-
-
4Gain-
NOL6-
-
-
-
3Gain-
NOL8-
-
-
-
4Gain-
NOM1-
-
-
-
4Gain-
NOMO1-
-
-
-
4Gain-
NOMO2-
-
-
-
5Amp-
NOMO3-
-
-
-
5Amp-
NOP56-
-
-
-
4Gain-
NOP9-
-
-
-
4Gain-
NOS1AP-
-
-
-
4Gain-
NOS3-
-
-
-
4Gain-
NOTCH1-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOVA1-
-
-
-
4Gain-
NOXA1-
-
-
-
3Gain-
NOXO1-
-
-
-
4Gain-
NOXRED1-
-
-
-
4Gain-
NPAS3-
-
-
-
4Gain-
NPBWR2-
-
-
-
4Gain-
NPC1L1-
-
-
-
4Gain-
NPC2-
-
-
-
4Gain-
NPDC1-
-
-
-
3Gain-
NPEPL1-
-
-
-
4Gain-
NPHS2-
-
-
-
4Gain-
NPIPA1-
-
-
-
4Gain-
NPIPA3-
-
-
-
4Gain-
NPIPA5-
-
-
-
4Gain-
NPIPA7-
-
-
-
5Amp-
NPIPA8-
-
-
-
5Amp-
NPIPB11-
-
-
-
3Gain-
NPIPB12-
-
-
-
3Gain-
NPIPB13-
-
-
-
3Gain-
NPIPB2-
-
-
-
4Gain-
NPIPB3-
-
-
-
4Gain-
NPIPB4-
-
-
-
4Gain-
NPIPB5-
-
-
-
3Gain-
NPIPB6-
-
-
-
5Amp-
NPIPB7-
-
-
-
5Amp-
NPIPB8-
-
-
-
5Amp-
NPIPB9-
-
-
-
5Amp-
NPL-
-
-
-
4Gain-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
3Gain-
NPRL3-
-
-
-
4Gain-
NPSR1-
-
-
-
4Gain-
NPVF-
-
-
-
4Gain-
NPW-
-
-
-
4Gain-
NPY-
-
-
-
4Gain-
NR1I3-
-
-
-
4Gain-
NR4A3-
-
-
-
4Gain-
NR5A1-
-
-
-
3Gain-
NR5A2-
-
-
-
4Gain-
NR6A1-
-
-
-
3Gain-
NRARP-
-
-
-
3Gain-
NRCAM-
-
-
-
4Gain-
NRDCp.G562E
Missense
SNP
1.000
2--
NRDE2-
-
-
-
4Gain-
NRF1-
-
-
-
3Gain-
NRL-
-
-
-
3Gain-
NRSN2-
-
-
-
4Gain-
NRXN3p.D482N
Missense
SNP
0.417
4Gain-
NSFL1C-
-
-
-
4Gain-
NSL1-
-
-
-
4Gain-
NSMCE1-
-
-
-
3Gain-
NSMF-
-
-
-
3Gain-
NSUN5-
-
-
-
5Amp-
NT5C3A-
-
-
-
4Gain-
NTAN1-
-
-
-
4Gain-
NTHL1-
-
-
-
4Gain-
NTMT1-
-
-
-
3Gain-
NTN3-
-
-
-
4Gain-
NTNG2-
-
-
-
4Gain-
NTPCR-
-
-
-
4Gain-
NTRK1-
-
-
-
4Gain-
NTRK2-
-
-
-
4Gain-
NTSR1-
-
-
-
3Gain-
NUAK2-
-
-
-
4Gain-
NUB1-
-
-
-
4Gain-
NUBP1-
-
-
-
4Gain-
NUBP2-
-
-
-
4Gain-
NUBPL-
-
-
-
4Gain-
NUCKS1-
-
-
-
4Gain-
NUDCD3-
-
-
-
4Gain-
NUDT1-
-
-
-
4Gain-
NUDT14-
-
-
-
4Gain-
NUDT16L1-
-
-
-
4Gain-
NUDT17-
-
-
-
3Gain-
NUDT2-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
4Gain-
NUMB-
-
-
-
4Gain-
NUP133-
-
-
-
4Gain-
NUP160-
-
-
-
1Loss-
NUP188-
-
-
-
3Gain-
NUP205-
-
-
-
4Gain-
NUP210L-
-
-
-
3Gain-
NUP214-
-
-
-
3Gain-
NUP93p.E14K
Missense
SNP
1.000
2--
NUPL2-
-
-
-
4Gain-
NUPR1-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUTM2F-
-
-
-
4Gain-
NUTM2G-
-
-
-
4Gain-
NVL-
-
-
-
4Gain-
NXNL2-
-
-
-
4Gain-
NXPH1-
-
-
-
4Gain-
NXT1-
-
-
-
4Gain-
NYNRIN-
-
-
-
4Gain-
OAZ3-
-
-
-
3Gain-
OBP2A-
-
-
-
4Gain-
OBP2B-
-
-
-
4Gain-
OBSCN-
-
-
-
4Gain-
OCLM-
-
-
-
4Gain-
OCM-
-
-
-
4Gain-
OCSTAMP-
-
-
-
4Gain-
ODF2-
-
-
-
3Gain-
ODR4-
-
-
-
4Gain-
OGDH-
-
-
-
4Gain-
OGFR-
-
-
-
3Gain-
OGN-
-
-
-
4Gain-
OLFM1-
-
-
-
3Gain-
OLFML2A-
-
-
-
3Gain-
OLFML2B-
-
-
-
4Gain-
OMD-
-
-
-
4Gain-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
4Gain-
OPRL1-
-
-
-
4Gain-
OPTC-
-
-
-
5Amp-
OR10G2-
-
-
-
3Gain-
OR10G3-
-
-
-
3Gain-
OR10J1-
-
-
-
4Gain-
OR10J3-
-
-
-
4Gain-
OR10J5-
-
-
-
4Gain-
OR10K1-
-
-
-
4Gain-
OR10K2-
-
-
-
4Gain-
OR10R2-
-
-
-
4Gain-
OR10T2-
-
-
-
4Gain-
OR10X1-
-
-
-
4Gain-
OR10Z1-
-
-
-
4Gain-
OR11G2-
-
-
-
3Gain-
OR11H12-
-
-
-
5Amp-
OR11H2-
-
-
-
5Amp-
OR11H4-
-
-
-
3Gain-
OR11H6-
-
-
-
3Gain-
OR11L1-
-
-
-
4Gain-
OR13C2-
-
-
-
4Gain-
OR13C3-
-
-
-
4Gain-
OR13C4-
-
-
-
4Gain-
OR13C5-
-
-
-
4Gain-
OR13C8-
-
-
-
4Gain-
OR13C9-
-
-
-
4Gain-
OR13D1-
-
-
-
4Gain-
OR13F1-
-
-
-
4Gain-
OR13G1-
-
-
-
4Gain-
OR13J1-
-
-
-
3Gain-
OR14A16-
-
-
-
4Gain-
OR14C36-
-
-
-
4Gain-
OR1B1-
-
-
-
3Gain-
OR1C1-
-
-
-
4Gain-
OR1F1-
-
-
-
4Gain-
OR1J1-
-
-
-
3Gain-
OR1J2-
-
-
-
3Gain-
OR1J4-
-
-
-
3Gain-
OR1K1-
-
-
-
3Gain-
OR1L1-
-
-
-
3Gain-
OR1L3-
-
-
-
3Gain-
OR1L4-
-
-
-
3Gain-
OR1L6-
-
-
-
3Gain-
OR1L8-
-
-
-
3Gain-
OR1N1-
-
-
-
3Gain-
OR1N2-
-
-
-
3Gain-
OR1Q1-
-
-
-
3Gain-
OR2A1-
-
-
-
4Gain-
OR2A12-
-
-
-
4Gain-
OR2A14-
-
-
-
4Gain-
OR2A2-
-
-
-
4Gain-
OR2A25-
-
-
-
4Gain-
OR2A42-
-
-
-
4Gain-
OR2A5-
-
-
-
4Gain-
OR2AK2-
-
-
-
4Gain-
OR2B11-
-
-
-
4Gain-
OR2C1-
-
-
-
4Gain-
OR2C3-
-
-
-
4Gain-
OR2F1-
-
-
-
4Gain-
OR2F2-
-
-
-
4Gain-
OR2G2-
-
-
-
4Gain-
OR2G3-
-
-
-
4Gain-
OR2G6-
-
-
-
4Gain-
OR2K2-
-
-
-
4Gain-
OR2L13-
-
-
-
4Gain-
OR2L2-
-
-
-
4Gain-
OR2L3-
-
-
-
4Gain-
OR2L5-
-
-
-
4Gain-
OR2L8-
-
-
-
4Gain-
OR2M2-
-
-
-
4Gain-
OR2M3-
-
-
-
4Gain-
OR2M4-
-
-
-
4Gain-
OR2M5-
-
-
-
4Gain-
OR2M7-
-
-
-
4Gain-
OR2S2-
-
-
-
3Gain-
OR2T1-
-
-
-
4Gain-
OR2T12-
-
-
-
4Gain-
OR2T2-
-
-
-
4Gain-
OR2T27-
-
-
-
4Gain-
OR2T29-
-
-
-
4Gain-
OR2T3-
-
-
-
4Gain-
OR2T33-
-
-
-
4Gain-
OR2T34-
-
-
-
4Gain-
OR2T35-
-
-
-
4Gain-
OR2T4-
-
-
-
4Gain-
OR2T5-
-
-
-
4Gain-
OR2T6-
-
-
-
4Gain-
OR2T8-
-
-
-
4Gain-
OR2W3-
-
-
-
4Gain-
OR4E2-
-
-
-
3Gain-
OR4K1-
-
-
-
5Amp-
OR4K13-
-
-
-
3Gain-
OR4K14-
-
-
-
3Gain-
OR4K15-
-
-
-
5Amp-
OR4K17-
-
-
-
3Gain-
OR4K2-
-
-
-
5Amp-
OR4K5-
-
-
-
5Amp-
OR4L1-
-
-
-
3Gain-
OR4M1-
-
-
-
5Amp-
OR4N2-
-
-
-
5Amp-
OR4N5-
-
-
-
3Gain-
OR4Q3-
-
-
-
5Amp-
OR5AU1-
-
-
-
3Gain-
OR5C1-
-
-
-
3Gain-
OR6B1-
-
-
-
4Gain-
OR6F1-
-
-
-
4Gain-
OR6K2-
-
-
-
4Gain-
OR6K3-
-
-
-
4Gain-
OR6K6-
-
-
-
4Gain-
OR6N1-
-
-
-
4Gain-
OR6N2-
-
-
-
4Gain-
OR6P1-
-
-
-
4Gain-
OR6S1-
-
-
-
3Gain-
OR6V1-
-
-
-
4Gain-
OR6Y1-
-
-
-
4Gain-
OR9A2-
-
-
-
4Gain-
OR9A4-
-
-
-
4Gain-
ORAI3-
-
-
-
3Gain-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
OSBPL2-
-
-
-
4Gain-
OSBPL3-
-
-
-
4Gain-
OSER1-
-
-
-
4Gain-
OSGEP-
-
-
-
3Gain-
OSTF1-
-
-
-
3Gain-
OTOA-
-
-
-
4Gain-
OTOR-
-
-
-
4Gain-
OTUB2-
-
-
-
4Gain-
OTUD7B-
-
-
-
3Gain-
OTX2-
-
-
-
4Gain-
OVOL2-
-
-
-
4Gain-
OXA1L-
-
-
-
3Gain-
OXT-
-
-
-
4Gain-
P4HA2p.L472V
Missense
SNP
1.000
2--
PABPC1L-
-
-
-
4Gain-
PABPN1-
-
-
-
5Amp-
PACS2-
-
-
-
4Gain-
PAEP-
-
-
-
4Gain-
PAGR1-
-
-
-
3Gain-
PAK5-
-
-
-
3Gain-
PALB2-
-
-
-
3Gain-
PALM2-
-
-
-
4Gain-
PALM2-AKAP2-
-
-
-
4Gain-
PAM16-
-
-
-
4Gain-
PANK2-
-
-
-
3Gain-
PAPLN-
-
-
-
4Gain-
PAPOLA-
-
-
-
4Gain-
PAPOLB-
-
-
-
4Gain-
PAPPA-
-
-
-
3Gain-
PAPPA2-
-
-
-
4Gain-
PAQR4-
-
-
-
4Gain-
PAQR6-
-
-
-
3Gain-
PARD6Bp.D100H
p.D366H
Missense
Missense
SNP
SNP
0.510
0.532
4Gain-
PARN-
-
-
-
4Gain-
PARP1-
-
-
-
4Gain-
PARP12-
-
-
-
4Gain-
PARP2-
-
-
-
3Gain-
PARP4p.L259V
Missense
SNP
0.982
2--
PAX1-
-
-
-
4Gain-
PAX4-
-
-
-
4Gain-
PAX5-
-
-
-
3Gain-
PAX9-
-
-
-
4Gain-
PAXIP1-
-
-
-
4Gain-
PAXX-
-
-
-
3Gain-
PBX1-
-
-
-
4Gain-
PBX3-
-
-
-
3Gain-
PBXIP1-
-
-
-
4Gain-
PCDH10p.E884Q
Missense
SNP
1.000
2--
PCDHB15p.E760K
Missense
SNP
1.000
2--
PCDHGC4p.D539N
Missense
SNP
1.000
2--
PCED1A-
-
-
-
4Gain-
PCIF1-
-
-
-
4Gain-
PCK1-
-
-
-
4Gain-
PCK2-
-
-
-
3Gain-
PCLO-
-
-
-
3Gain-
PCMTD1p.D319H
Missense
SNP
1.000
2--
PCMTD2-
-
-
-
4Gain-
PCNA-
-
-
-
3Gain-
PCNX1p.D1873N
p.E1894K
Missense
Missense
SNP
SNP
0.411
0.384
4Gain-
PCNX2-
-
-
-
4Gain-
PCNX4-
-
-
-
4Gain-
PCP4L1-
-
-
-
4Gain-
PCSK2-
-
-
-
4Gain-
PCSK5-
-
-
-
3Gain-
PDC-
-
-
-
4Gain-
PDCD1LG2-
-
-
-
3Gain-
PDCL-
-
-
-
3Gain-
PDE1C-
-
-
-
4Gain-
PDE4DIP-
-
-
-
3Gain-
PDGFA-
-
-
-
4Gain-
PDIA2-
-
-
-
4Gain-
PDIA4-
-
-
-
4Gain-
PDILT-
-
-
-
3Gain-
PDPK1-
-
-
-
4Gain-
PDRG1-
-
-
-
4Gain-
PDXDC1-
-
-
-
4Gain-
PDYN-
-
-
-
4Gain-
PDZD4p.E221D
Missense
SNP
0.366
NDND-
PDZD9-
-
-
-
4Gain-
PDZK1-
-
-
-
3Gain-
PEA15-
-
-
-
4Gain-
PEAR1-
-
-
-
4Gain-
PEG10-
-
-
-
4Gain-
PEG3p.Q1098*
Nonsense
SNP
1.000
2--
PELI2-
-
-
-
4Gain-
PET117-
-
-
-
4Gain-
PEX1-
-
-
-
4Gain-
PEX11B-
-
-
-
3Gain-
PEX13-
-
-
-
1Loss-
PEX19-
-
-
-
4Gain-
PEX6-
-
-
-
1Loss-
PFDN2-
-
-
-
4Gain-
PFDN4-
-
-
-
4Gain-
PFKFB2-
-
-
-
4Gain-
PGAM2-
-
-
-
4Gain-
PGBD2-
-
-
-
4Gain-
PGBD5-
-
-
-
4Gain-
PGF-
-
-
-
4Gain-
PGLYRP3-
-
-
-
5Amp-
PGLYRP4-
-
-
-
3Gain-
PGM5-
-
-
-
4Gain-
PGP-
-
-
-
4Gain-
PGRp.K926Nfs*18
Frame_Shift_Del
DEL
1.000
2--
PHACTR3-
-
-
-
4Gain-
PHF14-
-
-
-
4Gain-
PHF19-
-
-
-
3Gain-
PHF2-
-
-
-
4Gain-
PHF20-
-
-
-
3Gain-
PHF24-
-
-
-
3Gain-
PHKG1-
-
-
-
3Gain-
PHKG2-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHPT1-
-
-
-
3Gain-
PHTF2-
-
-
-
3Gain-
PHYHD1-
-
-
-
3Gain-
PI3-
-
-
-
4Gain-
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIGC-
-
-
-
4Gain-
PIGH-
-
-
-
4Gain-
PIGM-
-
-
-
4Gain-
PIGO-
-
-
-
3Gain-
PIGQ-
-
-
-
4Gain-
PIGRp.D194H
Missense
SNP
0.549
4Gain-
PIGT-
-
-
-
4Gain-
PIGU-
-
-
-
4Gain-
PIK3C2A-
-
-
-
1Loss-
PIK3C2B-
-
-
-
3Gain-
PIK3CAp.H1047R
Missense
SNP
1.000
2--
PIK3CG-
-
-
-
4Gain-
PIP-
-
-
-
4Gain-
PIP4P1-
-
-
-
3Gain-
PIP5K1B-
-
-
-
4Gain-
PIP5KL1-
-
-
-
3Gain-
PITX3-
-
-
-
1Loss-
PKD1-
-
-
-
4Gain-
PKD1L1-
-
-
-
4Gain-
PKD1P1-
-
-
-
5Amp-
PKIG-
-
-
-
4Gain-
PKLR-
-
-
-
3Gain-
PKMYT1-
-
-
-
4Gain-
PKN3-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PLA2G10-
-
-
-
4Gain-
PLA2G4Ap.X11_splice
Splice_Site
SNP
0.341
4Gain-
PLAA-
-
-
-
3Gain-
PLAGL2-
-
-
-
4Gain-
PLCB1-
-
-
-
3Gain-
PLCB4p.R853T
Missense
SNP
0.462
3Gain-
PLCD1p.E192*
Nonsense
SNP
0.966
2--
PLCG1-
-
-
-
4Gain-
PLD4-
-
-
-
4Gain-
PLD5-
-
-
-
4Gain-
PLEK2-
-
-
-
4Gain-
PLEKHA6-
-
-
-
3Gain-
PLEKHA8-
-
-
-
4Gain-
PLEKHD1-
-
-
-
4Gain-
PLEKHG3-
-
-
-
4Gain-
PLEKHH1-
-
-
-
4Gain-
PLEKHO1-
-
-
-
3Gain-
PLGRKT-
-
-
-
3Gain-
PLIN2-
-
-
-
3Gain-
PLK1-
-
-
-
3Gain-
PLPP6-
-
-
-
3Gain-
PLPP7-
-
-
-
3Gain-
PLPPR1-
-
-
-
4Gain-
PLTP-
-
-
-
4Gain-
PLXNA2-
-
-
-
4Gain-
PLXNA4-
-
-
-
4Gain-
PM20D1-
-
-
-
4Gain-
PMEPA1-
-
-
-
4Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMM2-
-
-
-
4Gain-
PMPCA-
-
-
-
3Gain-
PMS2-
-
-
-
4Gain-
PMVK-
-
-
-
4Gain-
PNN-
-
-
-
4Gain-
PNP-
-
-
-
3Gain-
PNPLA7p.R74Q
Missense
SNP
0.403
3Gain-
PNPLA8-
-
-
-
4Gain-
POC5p.S434*
Nonsense
SNP
1.000
2--
PODXL-
-
-
-
4Gain-
POFUT1-
-
-
-
4Gain-
POGK-
-
-
-
4Gain-
POGZ-
-
-
-
3Gain-
POLD2-
-
-
-
4Gain-
POLE2-
-
-
-
3Gain-
POLE3-
-
-
-
4Gain-
POLH-
-
-
-
1Loss-
POLM-
-
-
-
4Gain-
POLR1E-
-
-
-
3Gain-
POLR3C-
-
-
-
3Gain-
POLR3E-
-
-
-
3Gain-
POLR3F-
-
-
-
4Gain-
POLR3GL-
-
-
-
3Gain-
POLR3K-
-
-
-
4Gain-
POM121-
-
-
-
5Amp-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
4Gain-
POMT1-
-
-
-
4Gain-
POMT2-
-
-
-
4Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
4Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
4Gain-
POTEG-
-
-
-
5Amp-
POTEM-
-
-
-
5Amp-
POU2F1-
-
-
-
4Gain-
POU6F2-
-
-
-
4Gain-
PPDPF-
-
-
-
4Gain-
PPFIA4-
-
-
-
5Amp-
PPIA-
-
-
-
4Gain-
PPL-
-
-
-
4Gain-
PPM1A-
-
-
-
4Gain-
PPOX-
-
-
-
4Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R13B-
-
-
-
4Gain-
PPP1R15B-
-
-
-
3Gain-
PPP1R16Bp.F271L
Missense
SNP
0.554
4Gain-
PPP1R17-
-
-
-
4Gain-
PPP1R26-
-
-
-
4Gain-
PPP1R36-
-
-
-
4Gain-
PPP1R3A-
-
-
-
4Gain-
PPP1R3D-
-
-
-
4Gain-
PPP1R3E-
-
-
-
3Gain-
PPP1R9A-
-
-
-
4Gain-
PPP2R3C-
-
-
-
4Gain-
PPP2R5A-
-
-
-
4Gain-
PPP2R5Cp.S329T
Missense
SNP
0.543
5Amp-
PPP2R5D-
-
-
-
1Loss-
PPP2R5E-
-
-
-
4Gain-
PPP3R2-
-
-
-
4Gain-
PPP4C-
-
-
-
3Gain-
PPP4R3A-
-
-
-
4Gain-
PPP4R4-
-
-
-
4Gain-
PPP6C-
-
-
-
3Gain-
PRCC-
-
-
-
3Gain-
PRDM12-
-
-
-
3Gain-
PRDX6-
-
-
-
4Gain-
PRELID3B-
-
-
-
4Gain-
PRELP-
-
-
-
5Amp-
PREX1-
-
-
-
4Gain-
PRG4-
-
-
-
4Gain-
PRIMA1-
-
-
-
4Gain-
PRKAB2-
-
-
-
3Gain-
PRKACG-
-
-
-
4Gain-
PRKAG2-
-
-
-
4Gain-
PRKAR1B-
-
-
-
4Gain-
PRKAR2Bp.G347E
Missense
SNP
0.449
4Gain-
PRKCB-
-
-
-
4Gain-
PRKCH-
-
-
-
4Gain-
PRKD1-
-
-
-
4Gain-
PRKDCp.I1414L
Missense
SNP
1.000
2--
PRM1-
-
-
-
4Gain-
PRM2-
-
-
-
4Gain-
PRM3-
-
-
-
4Gain-
PRMT5-
-
-
-
3Gain-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROCR-
-
-
-
4Gain-
PROKR2-
-
-
-
3Gain-
PROS1p.Q93E
Missense
SNP
1.000
2--
PROX1-
-
-
-
4Gain-
PROX2-
-
-
-
4Gain-
PRPF3-
-
-
-
3Gain-
PRPF39-
-
-
-
4Gain-
PRPF4-
-
-
-
4Gain-
PRPF6-
-
-
-
4Gain-
PRPS1L1-
-
-
-
4Gain-
PRR14-
-
-
-
3Gain-
PRR15-
-
-
-
4Gain-
PRR35-
-
-
-
4Gain-
PRR9-
-
-
-
5Amp-
PRRC2B-
-
-
-
3Gain-
PRRC2C-
-
-
-
4Gain-
PRRT2-
-
-
-
3Gain-
PRRT4-
-
-
-
4Gain-
PRRX1-
-
-
-
4Gain-
PRRX2-
-
-
-
3Gain-
PRSS1-
-
-
-
4Gain-
PRSS2-
-
-
-
4Gain-
PRSS21p.S30*
Nonsense
SNP
0.417
4Gain-
PRSS22-
-
-
-
4Gain-
PRSS27-
-
-
-
4Gain-
PRSS3-
-
-
-
3Gain-
PRSS33-
-
-
-
4Gain-
PRSS36-
-
-
-
3Gain-
PRSS37-
-
-
-
4Gain-
PRSS38-
-
-
-
4Gain-
PRSS41-
-
-
-
4Gain-
PRSS53-
-
-
-
3Gain-
PRSS58-
-
-
-
4Gain-
PRSS8-
-
-
-
3Gain-
PRUNE1-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRXL2C-
-
-
-
4Gain-
PSAT1-
-
-
-
4Gain-
PSEN1-
-
-
-
4Gain-
PSEN2-
-
-
-
4Gain-
PSIP1-
-
-
-
4Gain-
PSMA2-
-
-
-
4Gain-
PSMA3-
-
-
-
4Gain-
PSMA6-
-
-
-
4Gain-
PSMA7-
-
-
-
4Gain-
PSMB11-
-
-
-
3Gain-
PSMB4-
-
-
-
3Gain-
PSMB5-
-
-
-
3Gain-
PSMB7-
-
-
-
3Gain-
PSMC1-
-
-
-
4Gain-
PSMC6-
-
-
-
4Gain-
PSMD4-
-
-
-
3Gain-
PSMD5-
-
-
-
3Gain-
PSME1-
-
-
-
3Gain-
PSME2-
-
-
-
3Gain-
PSMF1-
-
-
-
4Gain-
PSMG3-
-
-
-
4Gain-
PSPH-
-
-
-
3Gain-
PTAR1-
-
-
-
4Gain-
PTBP3-
-
-
-
4Gain-
PTCH1-
-
-
-
4Gain-
PTCRA-
-
-
-
1Loss-
PTGDR-
-
-
-
4Gain-
PTGDS-
-
-
-
3Gain-
PTGER2-
-
-
-
4Gain-
PTGES-
-
-
-
3Gain-
PTGES2-
-
-
-
3Gain-
PTGIS-
-
-
-
4Gain-
PTGR1-
-
-
-
4Gain-
PTGR2-
-
-
-
4Gain-
PTGS1-
-
-
-
3Gain-
PTGS2-
-
-
-
4Gain-
PTK6-
-
-
-
4Gain-
PTN-
-
-
-
4Gain-
PTPA-
-
-
-
3Gain-
PTPDC1-
-
-
-
4Gain-
PTPN1-
-
-
-
4Gain-
PTPN12-
-
-
-
3Gain-
PTPN14-
-
-
-
4Gain-
PTPN21-
-
-
-
4Gain-
PTPN3-
-
-
-
4Gain-
PTPN7-
-
-
-
3Gain-
PTPRA-
-
-
-
4Gain-
PTPRC-
-
-
-
4Gain-
PTPRD-
-
-
-
4Gain-
PTPRJ-
-
-
-
1Loss-
PTPRN2-
-
-
-
4Gain-
PTPRT-
-
-
-
4Gain-
PTPRZ1-
-
-
-
4Gain-
PTRH1-
-
-
-
3Gain-
PTX4-
-
-
-
4Gain-
PUM3.
Splice_Site
SNP
0.528
3Gain-
PURB-
-
-
-
4Gain-
PUS10-
-
-
-
1Loss-
PXMP4-
-
-
-
4Gain-
PYCARD-
-
-
-
3Gain-
PYCR2-
-
-
-
4Gain-
PYDC1-
-
-
-
3Gain-
PYGB-
-
-
-
4Gain-
PYGL-
-
-
-
4Gain-
PYGO2-
-
-
-
4Gain-
PYHIN1-
-
-
-
4Gain-
QPRT-
-
-
-
3Gain-
QRFP-
-
-
-
3Gain-
QSOX1-
-
-
-
4Gain-
QSOX2-
-
-
-
4Gain-
R3HDML-
-
-
-
4Gain-
RAB11FIP3-
-
-
-
4Gain-
RAB13-
-
-
-
3Gain-
RAB14-
-
-
-
3Gain-
RAB15-
-
-
-
4Gain-
RAB19-
-
-
-
4Gain-
RAB22A-
-
-
-
4Gain-
RAB25-
-
-
-
3Gain-
RAB26-
-
-
-
4Gain-
RAB29-
-
-
-
4Gain-
RAB2B-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
4Gain-
RAB40C-
-
-
-
4Gain-
RAB4A-
-
-
-
4Gain-
RAB5IF-
-
-
-
4Gain-
RABEP2-
-
-
-
3Gain-
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGAP1L-
-
-
-
4Gain-
RABGEF1-
-
-
-
5Amp-
RABGGTA-
-
-
-
4Gain-
RABIF-
-
-
-
3Gain-
RABL6-
-
-
-
3Gain-
RAC1-
-
-
-
4Gain-
RAD21L1-
-
-
-
4Gain-
RAD23B-
-
-
-
4Gain-
RAD51B-
-
-
-
4Gain-
RADIL-
-
-
-
4Gain-
RAE1-
-
-
-
4Gain-
RALA-
-
-
-
4Gain-
RALBp.Q9H
Missense
SNP
1.000
2--
RALGAPA1-
-
-
-
4Gain-
RALGAPA2-
-
-
-
4Gain-
RALGAPBp.P1036S
Missense
SNP
0.338
4Gain-
RALGDS-
-
-
-
4Gain-
RALGPS1-
-
-
-
3Gain-
RALGPS2-
-
-
-
4Gain-
RALY-
-
-
-
4Gain-
RAMP3-
-
-
-
4Gain-
RANBP6-
-
-
-
3Gain-
RAPGEF1-
-
-
-
4Gain-
RAPGEF5-
-
-
-
4Gain-
RARRES2-
-
-
-
4Gain-
RASA1p.Q542*
Nonsense
SNP
1.000
2--
RASA2p.S470*
Nonsense
SNP
1.000
2--
RASAL2-
-
-
-
4Gain-
RASEF-
-
-
-
4Gain-
RASSF2-
-
-
-
3Gain-
RASSF5-
-
-
-
4Gain-
RASSF7p.E167Q
p.E172Q
Missense
Missense
SNP
SNP
1.000
1.000
2--
RBAK-
-
-
-
4Gain-
RBAK-RBAKDN-
-
-
-
4Gain-
RBBP5-
-
-
-
4Gain-
RBBP6p.R1538T
Missense
SNP
0.615
4Gain-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
4Gain-
RBCK1-
-
-
-
4Gain-
RBFOX1-
-
-
-
4Gain-
RBL1-
-
-
-
4Gain-
RBM12-
-
-
-
3Gain-
RBM18-
-
-
-
3Gain-
RBM23-
-
-
-
3Gain-
RBM25-
-
-
-
4Gain-
RBM28-
-
-
-
4Gain-
RBM33-
-
-
-
4Gain-
RBM34-
-
-
-
4Gain-
RBM38-
-
-
-
4Gain-
RBM39-
-
-
-
3Gain-
RBM48-
-
-
-
4Gain-
RBM8A-
-
-
-
3Gain-
RBPJL-
-
-
-
4Gain-
RC3H1-
-
-
-
4Gain-
RC3H2p.L71V
Missense
SNP
0.388
3Gain-
RCC1L-
-
-
-
3Gain-
RCE1p.E18K
Missense
SNP
1.000
2--
RCL1-
-
-
-
3Gain-
RCOR1-
-
-
-
4Gain-
RCOR3-
-
-
-
4Gain-
RCSD1-
-
-
-
4Gain-
RD3-
-
-
-
4Gain-
RD3L-
-
-
-
4Gain-
RDH11-
-
-
-
4Gain-
RDH12-
-
-
-
4Gain-
REC8-
-
-
-
3Gain-
RECK-
-
-
-
3Gain-
REM1-
-
-
-
4Gain-
REM2p.F270L
Missense
SNP
0.500
3Gain-
REN-
-
-
-
3Gain-
REPIN1-
-
-
-
4Gain-
REXO4-
-
-
-
4Gain-
REXO5-
-
-
-
4Gain-
RFC2-
-
-
-
3Gain-
RFK-
-
-
-
3Gain-
RFX3-
-
-
-
3Gain-
RFX5-
-
-
-
3Gain-
RGL1-
-
-
-
4Gain-
RGP1-
-
-
-
3Gain-
RGS1-
-
-
-
4Gain-
RGS11-
-
-
-
4Gain-
RGS13-
-
-
-
4Gain-
RGS16-
-
-
-
4Gain-
RGS18-
-
-
-
4Gain-
RGS19-
-
-
-
4Gain-
RGS2-
-
-
-
4Gain-
RGS21-
-
-
-
4Gain-
RGS3-
-
-
-
4Gain-
RGS4-
-
-
-
4Gain-
RGS5-
-
-
-
4Gain-
RGS6-
-
-
-
4Gain-
RGS7-
-
-
-
4Gain-
RGS8-
-
-
-
4Gain-
RGSL1-
-
-
-
4Gain-
RHBDD2-
-
-
-
3Gain-
RHBDF1-
-
-
-
4Gain-
RHBDL1-
-
-
-
4Gain-
RHBG-
-
-
-
3Gain-
RHEB-
-
-
-
4Gain-
RHEX-
-
-
-
4Gain-
RHOJ-
-
-
-
4Gain-
RHOT2-
-
-
-
4Gain-
RHOU-
-
-
-
4Gain-
RIC1-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RIMS4-
-
-
-
4Gain-
RIN2-
-
-
-
4Gain-
RIN3-
-
-
-
4Gain-
RIOX1-
-
-
-
4Gain-
RIPK3-
-
-
-
4Gain-
RIPOR3-
-
-
-
4Gain-
RIT1-
-
-
-
3Gain-
RLN1-
-
-
-
3Gain-
RLN2-
-
-
-
3Gain-
RMI1-
-
-
-
3Gain-
RMI2-
-
-
-
4Gain-
RN7SK-
-
-
-
NDNDRN7SL2--RN7SK
RN7SK--AL139099.4
RN7SK--RN7SL1
RN7SKP118-
-
-
-
NDNDRN7SKP80--RN7SKP118
RN7SKP80-
-
-
-
NDNDRN7SKP80--RN7SKP118
RN7SL1-
-
-
-
NDNDRN7SK--RN7SL1
RN7SL1--AL355075.4
RN7SL1--RPPH1
AL355075.4--RN7SL1
RPPH1--RN7SL1
RN7SL2-
-
-
-
NDNDRN7SL2--RN7SK
RNASE1-
-
-
-
3Gain-
RNASE10-
-
-
-
3Gain-
RNASE11-
-
-
-
3Gain-
RNASE12-
-
-
-
3Gain-
RNASE13-
-
-
-
3Gain-
RNASE2-
-
-
-
3Gain-
RNASE3-
-
-
-
3Gain-
RNASE4-
-
-
-
3Gain-
RNASE6-
-
-
-
3Gain-
RNASE7-
-
-
-
3Gain-
RNASE8-
-
-
-
3Gain-
RNASE9-
-
-
-
3Gain-
RNASEL-
-
-
-
4Gain-
RNF111p.S222*
Nonsense
SNP
1.000
2--
RNF114-
-
-
-
4Gain-
RNF115-
-
-
-
3Gain-
RNF133-
-
-
-
4Gain-
RNF148-
-
-
-
4Gain-
RNF151-
-
-
-
4Gain-
RNF183-
-
-
-
4Gain-
RNF187-
-
-
-
4Gain-
RNF2-
-
-
-
4Gain-
RNF20-
-
-
-
4Gain-
RNF208-
-
-
-
3Gain-
RNF212B-
-
-
-
3Gain-
RNF215p.G38E
Missense
SNP
1.000
2--
RNF216-
-
-
-
4Gain-
RNF224-
-
-
-
3Gain-
RNF24-
-
-
-
3Gain-
RNF31-
-
-
-
3Gain-
RNF32-
-
-
-
4Gain-
RNF38-
-
-
-
3Gain-
RNF40-
-
-
-
3Gain-
RNPEP-
-
-
-
3Gain-
RNPS1-
-
-
-
4Gain-
ROGDI-
-
-
-
4Gain-
ROMO1-
-
-
-
3Gain-
ROR2-
-
-
-
4Gain-
RORB-
-
-
-
4Gain-
RORC-
-
-
-
5Amp-
RP9-
-
-
-
4Gain-
RPA3-
-
-
-
4Gain-
RPGRIP1-
-
-
-
3Gain-
RPL10L-
-
-
-
4Gain-
RPL12-
-
-
-
3Gain-
RPL35-
-
-
-
3Gain-
RPL36AL-
-
-
-
4Gain-
RPL3L-
-
-
-
4Gain-
RPL7A-
-
-
-
4Gain-
RPL7L1-
-
-
-
1Loss-
RPN2-
-
-
-
4Gain-
RPP25L-
-
-
-
3Gain-
RPPH1-
-
-
-
NDNDAL139099.4--RPPH1
RN7SL1--RPPH1
RPPH1--AL139099.4
RPPH1--RN7SL1
RPRD1B-
-
-
-
4Gain-
RPRD2-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS15A-
-
-
-
3Gain-
RPS2-
-
-
-
4Gain-
RPS21-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS29-
-
-
-
4Gain-
RPS6-
-
-
-
3Gain-
RPS6KA5-
-
-
-
4Gain-
RPS6KC1-
-
-
-
4Gain-
RPS6KL1-
-
-
-
4Gain-
RPTN-
-
-
-
5Amp-
RPUSD1-
-
-
-
4Gain-
RRAGA-
-
-
-
4Gain-
RRBP1-
-
-
-
4Gain-
RRN3-
-
-
-
4Gain-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
4Gain-
RRP36-
-
-
-
1Loss-
RSBN1L-
-
-
-
3Gain-
RSL1D1-
-
-
-
4Gain-
RSPH10B-
-
-
-
4Gain-
RSPH10B2-
-
-
-
4Gain-
RSPH9-
-
-
-
1Loss-
RSPO4-
-
-
-
4Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
4Gain-
RTL1-
-
-
-
5Amp-
RTN1-
-
-
-
4Gain-
RTRAF-
-
-
-
4Gain-
RUNDC3B-
-
-
-
4Gain-
RUNX1p.R157T
Missense
SNP
1.000
2--
RUSC1-
-
-
-
3Gain-
RUSC2-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRA-
-
-
-
4Gain-
RXRG-
-
-
-
4Gain-
RYR2-
-
-
-
4Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
5Amp-
S100A11-
-
-
-
5Amp-
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-
S1PR3-
-
-
-
4Gain-
SALL2-
-
-
-
3Gain-
SALL4-
-
-
-
4Gain-
SAMD1p.E65Q
Missense
SNP
0.981
2--
SAMD10-
-
-
-
4Gain-
SAMD15-
-
-
-
4Gain-
SAMD4A-
-
-
-
4Gain-
SAMD9-
-
-
-
4Gain-
SAMD9L-
-
-
-
4Gain-
SAMHD1-
-
-
-
4Gain-
SAP18p.D114Y
Missense
SNP
1.000
2--
SAP30L-
-
-
-
1Loss-
SAPCD2-
-
-
-
3Gain-
SARDH-
-
-
-
4Gain-
SAV1-
-
-
-
4Gain-
SAXO1-
-
-
-
4Gain-
SBDS-
-
-
-
5Amp-
SBK1-
-
-
-
5Amp-
SCAI-
-
-
-
3Gain-
SCAMP3-
-
-
-
3Gain-
SCAND1-
-
-
-
3Gain-
SCCPDH-
-
-
-
4Gain-
SCFD1-
-
-
-
4Gain-
SCGB2A2p.V28Dfs*11
Frame_Shift_Del
DEL
1.000
2--
SCIN-
-
-
-
4Gain-
SCNM1-
-
-
-
3Gain-
SCNN1B-
-
-
-
3Gain-
SCNN1G-
-
-
-
3Gain-
SCP2D1-
-
-
-
4Gain-
SCRN1-
-
-
-
4Gain-
SCRT2-
-
-
-
4Gain-
SCYL3-
-
-
-
4Gain-
SDC4-
-
-
-
4Gain-
SDCBP2-
-
-
-
4Gain-
SDCCAG8-
-
-
-
4Gain-
SDE2-
-
-
-
4Gain-
SDHC-
-
-
-
4Gain-
SDK1-
-
-
-
4Gain-
SDR39U1-
-
-
-
4Gain-
SEC14L5-
-
-
-
4Gain-
SEC16Ap.E143Q
Missense
SNP
0.507
3Gain-
SEC16B-
-
-
-
4Gain-
SEC23Ap.E538Q
Missense
SNP
0.477
4Gain-
SEC23B-
-
-
-
4Gain-
SEC61B-
-
-
-
4Gain-
SEC61G-
-
-
-
4Gain-
SECISBP2-
-
-
-
4Gain-
SEL1L-
-
-
-
4Gain-
SEL1L2-
-
-
-
4Gain-
SELE-
-
-
-
4Gain-
SELENBP1-
-
-
-
3Gain-
SELL-
-
-
-
4Gain-
SELP-
-
-
-
4Gain-
SEMA3A-
-
-
-
4Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
4Gain-
SEMA3E-
-
-
-
4Gain-
SEMA4A-
-
-
-
3Gain-
SEMA4D-
-
-
-
4Gain-
SEMA6Cp.Q450H
Missense
SNP
0.434
3Gain-
SEMG1-
-
-
-
4Gain-
SEMG2-
-
-
-
4Gain-
SEPHS2-
-
-
-
3Gain-
SEPT1-
-
-
-
3Gain-
SEPT12-
-
-
-
4Gain-
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
4Gain-
SERINC3-
-
-
-
4Gain-
SERPINA1-
-
-
-
4Gain-
SERPINA10-
-
-
-
4Gain-
SERPINA11-
-
-
-
4Gain-
SERPINA12-
-
-
-
4Gain-
SERPINA3-
-
-
-
4Gain-
SERPINA4-
-
-
-
4Gain-
SERPINA5-
-
-
-
4Gain-
SERPINA6-
-
-
-
4Gain-
SERPINA9-
-
-
-
4Gain-
SERPINC1-
-
-
-
4Gain-
SERTAD4-
-
-
-
4Gain-
SET-
-
-
-
3Gain-
SETD1A-
-
-
-
3Gain-
SETD3-
-
-
-
5Amp-
SETDB1-
-
-
-
3Gain-
SETX-
-
-
-
4Gain-
SEZ6L2-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SFRP4-
-
-
-
4Gain-
SFT2D2-
-
-
-
4Gain-
SFTA3-
-
-
-
4Gain-
SGCE-
-
-
-
4Gain-
SGF29-
-
-
-
3Gain-
SGK2-
-
-
-
4Gain-
SGPP1-
-
-
-
4Gain-
SH2B1-
-
-
-
3Gain-
SH2B3p.W298*
Nonsense
SNP
1.000
2--
SH2D1B-
-
-
-
4Gain-
SH2D2A-
-
-
-
4Gain-
SH2D3C-
-
-
-
3Gain-
SH3BP5L-
-
-
-
4Gain-
SH3GL2-
-
-
-
4Gain-
SH3GLB2-
-
-
-
3Gain-
SH3RF1p.L69V
Missense
SNP
1.000
2--
SHBp.I277F
Missense
SNP
0.448
3Gain-
SHC1-
-
-
-
4Gain-
SHC3-
-
-
-
4Gain-
SHCBP1L-
-
-
-
4Gain-
SHE-
-
-
-
4Gain-
SHH-
-
-
-
4Gain-
SHISA4-
-
-
-
3Gain-
SHISA9-
-
-
-
4Gain-
SHLD1-
-
-
-
3Gain-
SIGLEC1-
-
-
-
3Gain-
SIGMAR1-
-
-
-
3Gain-
SIPA1L1-
-
-
-
4Gain-
SIPA1L2-
-
-
-
4Gain-
SIRPA-
-
-
-
4Gain-
SIRPB1-
-
-
-
4Gain-
SIRPB2-
-
-
-
4Gain-
SIRPD-
-
-
-
4Gain-
SIRPG-
-
-
-
4Gain-
SIT1-
-
-
-
3Gain-
SIVA1-
-
-
-
4Gain-
SIX1-
-
-
-
4Gain-
SIX4-
-
-
-
4Gain-
SIX6-
-
-
-
4Gain-
SKAP2-
-
-
-
4Gain-
SLA2-
-
-
-
4Gain-
SLAMF1-
-
-
-
4Gain-
SLAMF6-
-
-
-
4Gain-
SLAMF7-
-
-
-
4Gain-
SLAMF8-
-
-
-
4Gain-
SLAMF9-
-
-
-
4Gain-
SLC10A1-
-
-
-
4Gain-
SLC12A5-
-
-
-
4Gain-
SLC13A1-
-
-
-
4Gain-
SLC13A3-
-
-
-
4Gain-
SLC13A4-
-
-
-
4Gain-
SLC17A9-
-
-
-
4Gain-
SLC19A2-
-
-
-
4Gain-
SLC1A1-
-
-
-
3Gain-
SLC22A17-
-
-
-
5Amp-
SLC23A2-
-
-
-
3Gain-
SLC24A2-
-
-
-
3Gain-
SLC24A3-
-
-
-
4Gain-
SLC24A4-
-
-
-
4Gain-
SLC25A21-
-
-
-
4Gain-
SLC25A25-
-
-
-
3Gain-
SLC25A29-
-
-
-
5Amp-
SLC25A40-
-
-
-
4Gain-
SLC25A44-
-
-
-
3Gain-
SLC25A47-
-
-
-
5Amp-
SLC25A51-
-
-
-
3Gain-
SLC26A3-
-
-
-
4Gain-
SLC26A4-
-
-
-
4Gain-
SLC26A9-
-
-
-
4Gain-
SLC27A3-
-
-
-
3Gain-
SLC27A4-
-
-
-
3Gain-
SLC28A3-
-
-
-
4Gain-
SLC29A4-
-
-
-
4Gain-
SLC2A10-
-
-
-
4Gain-
SLC2A4RG-
-
-
-
4Gain-
SLC2A6-
-
-
-
4Gain-
SLC2A8-
-
-
-
3Gain-
SLC30A1-
-
-
-
4Gain-
SLC30A10-
-
-
-
4Gain-
SLC31A1-
-
-
-
4Gain-
SLC31A2-
-
-
-
4Gain-
SLC32A1-
-
-
-
4Gain-
SLC34A3-
-
-
-
3Gain-
SLC35B4-
-
-
-
4Gain-
SLC35C2-
-
-
-
4Gain-
SLC35D2-
-
-
-
4Gain-
SLC35F3-
-
-
-
4Gain-
SLC35F4-
-
-
-
4Gain-
SLC37A3-
-
-
-
4Gain-
SLC38A6-
-
-
-
4Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A10p.E98Q
p.K232N
Missense
Missense
SNP
SNP
1.000
1.000
2--
SLC39A2-
-
-
-
3Gain-
SLC39A9-
-
-
-
4Gain-
SLC41A1-
-
-
-
4Gain-
SLC44A1-
-
-
-
4Gain-
SLC45A3p.E219Q
Missense
SNP
0.465
4Gain-
SLC46A2-
-
-
-
4Gain-
SLC4A11-
-
-
-
4Gain-
SLC4A1APp.R252G
Missense
SNP
1.000
2--
SLC4A2p.L1141V
Missense
SNP
0.469
4Gain-
SLC50A1-
-
-
-
4Gain-
SLC52A3-
-
-
-
4Gain-
SLC5A11-
-
-
-
4Gain-
SLC5A2-
-
-
-
4Gain-
SLC7A7-
-
-
-
3Gain-
SLC7A8-
-
-
-
3Gain-
SLC8A3-
-
-
-
4Gain-
SLC9A3R2-
-
-
-
4Gain-
SLC9A8-
-
-
-
4Gain-
SLC9C2-
-
-
-
4Gain-
SLCO1B1p.S411L
Missense
SNP
1.000
2--
SLCO4A1-
-
-
-
3Gain-
SLIRP-
-
-
-
4Gain-
SLPI-
-
-
-
4Gain-
SLX1A-
-
-
-
3Gain-
SLX1B-
-
-
-
3Gain-
SLX4-
-
-
-
4Gain-
SLX4IP-
-
-
-
4Gain-
SMARCA2-
-
-
-
3Gain-
SMARCD3-
-
-
-
4Gain-
SMC2-
-
-
-
4Gain-
SMC5-
-
-
-
4Gain-
SMCO3p.E55Q
Missense
SNP
1.000
2--
SMCP-
-
-
-
5Amp-
SMG1-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
4Gain-
SMIM22-
-
-
-
4Gain-
SMIM24p.D121H
Missense
SNP
1.000
2--
SMIM27-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMOC1-
-
-
-
4Gain-
SMOX-
-
-
-
3Gain-
SMU1-
-
-
-
3Gain-
SMYD2-
-
-
-
4Gain-
SMYD3-
-
-
-
4Gain-
SNAI1-
-
-
-
4Gain-
SNAP25-
-
-
-
4Gain-
SNAP47-
-
-
-
4Gain-
SNAPC1-
-
-
-
4Gain-
SNAPC3-
-
-
-
4Gain-
SNAPC4-
-
-
-
4Gain-
SNAPIN-
-
-
-
3Gain-
SND1-
-
-
-
4Gain-
SNHG28-
-
-
-
4Gain-
SNN-
-
-
-
4Gain-
SNPH-
-
-
-
4Gain-
SNRNP25-
-
-
-
4Gain-
SNRPB-
-
-
-
4Gain-
SNRPB2-
-
-
-
4Gain-
SNRPE-
-
-
-
5Amp-
SNTA1-
-
-
-
4Gain-
SNW1-
-
-
-
4Gain-
SNX10-
-
-
-
4Gain-
SNX13-
-
-
-
4Gain-
SNX21-
-
-
-
4Gain-
SNX25p.R704T
p.R716K
Missense
Missense
SNP
SNP
1.000
1.000
2--
SNX27-
-
-
-
3Gain-
SNX29-
-
-
-
4Gain-
SNX30-
-
-
-
4Gain-
SNX5-
-
-
-
4Gain-
SNX6-
-
-
-
4Gain-
SNX8-
-
-
-
4Gain-
SOAT1-
-
-
-
4Gain-
SOCS1-
-
-
-
4Gain-
SOCS4-
-
-
-
4Gain-
SOGA1-
-
-
-
4Gain-
SOHLH1-
-
-
-
4Gain-
SORCS2p.S128L
Missense
SNP
1.000
2--
SOS2-
-
-
-
4Gain-
SOSTDC1-
-
-
-
4Gain-
SOX12-
-
-
-
4Gain-
SOX13-
-
-
-
3Gain-
SOX18-
-
-
-
4Gain-
SOX8-
-
-
-
4Gain-
SP4-
-
-
-
4Gain-
SP8-
-
-
-
4Gain-
SPACA9-
-
-
-
4Gain-
SPAG4-
-
-
-
3Gain-
SPAG5p.Q727H
Missense
SNP
1.000
2--
SPAG8-
-
-
-
3Gain-
SPAM1-
-
-
-
4Gain-
SPATA17-
-
-
-
4Gain-
SPATA2-
-
-
-
4Gain-
SPATA25-
-
-
-
4Gain-
SPATA3p.Q48H
Missense
SNP
0.050
2--
SPATA31A3-
-
-
-
4Gain-
SPATA31A5-
-
-
-
4Gain-
SPATA31A6-
-
-
-
5Amp-
SPATA31A7-
-
-
-
4Gain-
SPATA31D1-
-
-
-
4Gain-
SPATA31D3-
-
-
-
4Gain-
SPATA31D4-
-
-
-
4Gain-
SPATA31E1-
-
-
-
4Gain-
SPATA45-
-
-
-
4Gain-
SPATA46-
-
-
-
4Gain-
SPATA48-
-
-
-
4Gain-
SPATA6Lp.D247N
Missense
SNP
0.371
3Gain-
SPATA7-
-
-
-
4Gain-
SPCS1-
-
-
-
1Loss-
SPDYE1p.E39K
Missense
SNP
0.440
NDND-
SPDYE16-
-
-
-
3Gain-
SPEF1-
-
-
-
3Gain-
SPHAR-
-
-
-
4Gain-
SPIDRp.E684Q
Missense
SNP
1.000
2--
SPIN1-
-
-
-
4Gain-
SPINK4-
-
-
-
3Gain-
SPINT3-
-
-
-
4Gain-
SPINT4-
-
-
-
4Gain-
SPN-
-
-
-
3Gain-
SPNS1-
-
-
-
3Gain-
SPO11-
-
-
-
4Gain-
SPOUT1-
-
-
-
3Gain-
SPRR1A-
-
-
-
5Amp-
SPRR1B-
-
-
-
5Amp-
SPRR2G-
-
-
-
5Amp-
SPRR3-
-
-
-
5Amp-
SPRR4-
-
-
-
5Amp-
SPRTN-
-
-
-
4Gain-
SPSB3-
-
-
-
4Gain-
SPTA1-
-
-
-
4Gain-
SPTAN1p.E901K
Missense
SNP
0.441
3Gain-
SPTB-
-
-
-
4Gain-
SPTLC1-
-
-
-
4Gain-
SPTLC2-
-
-
-
4Gain-
SPTLC3-
-
-
-
4Gain-
SPTSSA-
-
-
-
4Gain-
SRA1-
-
-
-
3Gain-
SRC-
-
-
-
4Gain-
SRCAP-
-
-
-
3Gain-
SRGAP2-
-
-
-
4Gain-
SRGAP2B-
-
-
-
3Gain-
SRI-
-
-
-
4Gain-
SRL-
-
-
-
4Gain-
SRMS-
-
-
-
4Gain-
SRP54-
-
-
-
4Gain-
SRP9-
-
-
-
4Gain-
SRRM2-
-
-
-
4Gain-
SRRM3-
-
-
-
3Gain-
SRSF5-
-
-
-
4Gain-
SRSF6-
-
-
-
4Gain-
SRXN1-
-
-
-
4Gain-
SS18L1-
-
-
-
4Gain-
SSBP1-
-
-
-
4Gain-
SSC4D-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSNA1-
-
-
-
3Gain-
SSPO-
-
-
-
4Gain-
SSR2-
-
-
-
3Gain-
SSTR1-
-
-
-
4Gain-
SSTR4-
-
-
-
4Gain-
SSTR5-
-
-
-
4Gain-
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC6-
-
-
-
3Gain-
ST7-
-
-
-
4Gain-
STARD3NL-
-
-
-
4Gain-
STARD9p.E2985Q
Missense
SNP
1.000
2--
STAU1-
-
-
-
4Gain-
STEAP1-
-
-
-
4Gain-
STEAP1B-
-
-
-
4Gain-
STEAP2-
-
-
-
4Gain-
STEAP4-
-
-
-
4Gain-
STK17A-
-
-
-
4Gain-
STK31-
-
-
-
4Gain-
STK35-
-
-
-
4Gain-
STK4-
-
-
-
4Gain-
STKLD1-
-
-
-
4Gain-
STMN3p.E148Q
Missense
SNP
0.535
3Gain-
STMP1-
-
-
-
4Gain-
STOM-
-
-
-
3Gain-
STOML2-
-
-
-
3Gain-
STON2-
-
-
-
4Gain-
STPG3-
-
-
-
3Gain-
STRA8-
-
-
-
4Gain-
STRBP-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STRN3-
-
-
-
4Gain-
STUB1-
-
-
-
4Gain-
STUM-
-
-
-
4Gain-
STX16-
-
-
-
4Gain-
STX16-NPEPL1-
-
-
-
4Gain-
STX17-
-
-
-
4Gain-
STX1A-
-
-
-
5Amp-
STX1B-
-
-
-
3Gain-
STX4-
-
-
-
3Gain-
STX6-
-
-
-
4Gain-
STXBP1-
-
-
-
3Gain-
STXBP5p.S190L
Missense
SNP
1.000
2--
STXBP6-
-
-
-
4Gain-
STYX-
-
-
-
4Gain-
STYXL1-
-
-
-
3Gain-
SUCLG2p.E400K
Missense
SNP
1.000
2--
SUCO-
-
-
-
4Gain-
SUGCT-
-
-
-
4Gain-
SULF2-
-
-
-
4Gain-
SULT1A1-
-
-
-
5Amp-
SULT1A2-
-
-
-
3Gain-
SULT1B1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
4Gain-
SUN3-
-
-
-
4Gain-
SUN5-
-
-
-
4Gain-
SUPT16H-
-
-
-
3Gain-
SURF1-
-
-
-
4Gain-
SURF2-
-
-
-
4Gain-
SURF4-
-
-
-
4Gain-
SURF6-
-
-
-
4Gain-
SUSD1-
-
-
-
4Gain-
SUSD3-
-
-
-
4Gain-
SUSD4p.S186C
Missense
SNP
0.421
4Gain-
SUSD6-
-
-
-
4Gain-
SV2A-
-
-
-
5Amp-
SVEP1-
-
-
-
4Gain-
SVOPL-
-
-
-
4Gain-
SWI5-
-
-
-
3Gain-
SWT1-
-
-
-
4Gain-
SYCE1-
-
-
-
3Gain-
SYCP2-
-
-
-
4Gain-
SYK-
-
-
-
4Gain-
SYNDIG1-
-
-
-
4Gain-
SYNDIG1L-
-
-
-
4Gain-
SYNE2-
-
-
-
4Gain-
SYNE3-
-
-
-
4Gain-
SYNGR3-
-
-
-
4Gain-
SYNJ2BP-
-
-
-
4Gain-
SYNJ2BP-COX16-
-
-
-
4Gain-
SYNPOp.E393Q
Missense
SNP
1.000
2--
SYNRGp.E550Q
Missense
SNP
1.000
2--
SYS1-
-
-
-
4Gain-
SYS1-DBNDD2-
-
-
-
4Gain-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
4Gain-
SYT16-
-
-
-
4Gain-
SYT17-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYT5p.S39*
Nonsense
SNP
1.000
2--
TADA1-
-
-
-
4Gain-
TAF1A-
-
-
-
4Gain-
TAF1L-
-
-
-
3Gain-
TAF4-
-
-
-
4Gain-
TAF5L-
-
-
-
4Gain-
TAGLN2-
-
-
-
4Gain-
TAL2-
-
-
-
4Gain-
TAOK2-
-
-
-
3Gain-
TARBP1-
-
-
-
4Gain-
TARS2-
-
-
-
3Gain-
TAS2R16-
-
-
-
4Gain-
TAS2R3-
-
-
-
4Gain-
TAS2R38-
-
-
-
4Gain-
TAS2R39-
-
-
-
4Gain-
TAS2R4-
-
-
-
4Gain-
TAS2R40-
-
-
-
4Gain-
TAS2R41-
-
-
-
4Gain-
TAS2R5-
-
-
-
4Gain-
TAS2R60-
-
-
-
4Gain-
TASP1-
-
-
-
4Gain-
TATDN3-
-
-
-
4Gain-
TAX1BP1-
-
-
-
4Gain-
TBC1D10B-
-
-
-
3Gain-
TBC1D13-
-
-
-
3Gain-
TBC1D2-
-
-
-
4Gain-
TBC1D20-
-
-
-
4Gain-
TBC1D24-
-
-
-
4Gain-
TBCE-
-
-
-
4Gain-
TBL2-
-
-
-
5Amp-
TBL3-
-
-
-
4Gain-
TBPL2-
-
-
-
4Gain-
TBRG4-
-
-
-
4Gain-
TBX19-
-
-
-
4Gain-
TBX20p.S168F
Missense
SNP
0.495
4Gain-
TBX6-
-
-
-
3Gain-
TBXAS1-
-
-
-
4Gain-
TC2N-
-
-
-
4Gain-
TCAF1-
-
-
-
4Gain-
TCAF2-
-
-
-
4Gain-
TCAF2C-
-
-
-
4Gain-
TCEA2-
-
-
-
4Gain-
TCF15-
-
-
-
4Gain-
TCFL5p.E209*
Nonsense
SNP
0.412
4Gain-
TCHH-
-
-
-
5Amp-
TCHHL1-
-
-
-
5Amp-
TCL1A-
-
-
-
4Gain-
TCL1B-
-
-
-
4Gain-
TDP1-
-
-
-
4Gain-
TDRD10-
-
-
-
4Gain-
TDRD3p.Q89E
Missense
SNP
1.000
2--
TDRD5-
-
-
-
4Gain-
TDRD7-
-
-
-
4Gain-
TDRD9-
-
-
-
4Gain-
TDRKH-
-
-
-
3Gain-
TECPR2-
-
-
-
4Gain-
TEDC1-
-
-
-
4Gain-
TEDC2-
-
-
-
4Gain-
TEDDM1-
-
-
-
4Gain-
TEK-
-
-
-
3Gain-
TEKT5-
-
-
-
4Gain-
TELO2-
-
-
-
4Gain-
TENM1p.R1316Q
Missense
SNP
0.340
NDND-
TENM2p.R1266G
Missense
SNP
1.000
2--
TEP1-
-
-
-
3Gain-
TES-
-
-
-
4Gain-
TESK1-
-
-
-
3Gain-
TET1p.E781Q
Missense
SNP
1.000
2--
TEX10-
-
-
-
4Gain-
TEX22-
-
-
-
4Gain-
TEX35-
-
-
-
4Gain-
TEX47-
-
-
-
4Gain-
TEX48-
-
-
-
3Gain-
TEX50-
-
-
-
4Gain-
TFAP2C-
-
-
-
4Gain-
TFAP4-
-
-
-
4Gain-
TFB2M-
-
-
-
4Gain-
TFEC-
-
-
-
4Gain-
TFPI2-
-
-
-
4Gain-
TGFB1I1-
-
-
-
4Gain-
TGFB2-
-
-
-
4Gain-
TGFB3-
-
-
-
4Gain-
TGFBR1-
-
-
-
4Gain-
TGIF2-
-
-
-
4Gain-
TGIF2-RAB5IF-
-
-
-
4Gain-
TGM1-
-
-
-
4Gain-
TGM2-
-
-
-
4Gain-
TGM3-
-
-
-
4Gain-
TGM6-
-
-
-
4Gain-
THAP11p.E31K
Missense
SNP
1.000
2--
THAP5-
-
-
-
4Gain-
THBD-
-
-
-
4Gain-
THBS3-
-
-
-
4Gain-
THEM4-
-
-
-
5Amp-
THEM5-
-
-
-
5Amp-
THOC6-
-
-
-
4Gain-
THSD7A-
-
-
-
4Gain-
THTPA-
-
-
-
5Amp-
THUMPD1-
-
-
-
4Gain-
TIGD7-
-
-
-
4Gain-
TIMM17A-
-
-
-
3Gain-
TIMM9-
-
-
-
4Gain-
TINF2-
-
-
-
4Gain-
TIPRL-
-
-
-
4Gain-
TJP2-
-
-
-
4Gain-
TLDC2-
-
-
-
4Gain-
TLE1-
-
-
-
4Gain-
TLE4-
-
-
-
4Gain-
TLN1-
-
-
-
3Gain-
TLR4p.I491M
Missense
SNP
0.481
3Gain-
TLR5-
-
-
-
4Gain-
TM9SF1-
-
-
-
3Gain-
TM9SF4-
-
-
-
4Gain-
TMC1-
-
-
-
4Gain-
TMC2-
-
-
-
4Gain-
TMC5-
-
-
-
3Gain-
TMC7-
-
-
-
3Gain-
TMCC2-
-
-
-
4Gain-
TMCO1-
-
-
-
4Gain-
TMED10-
-
-
-
4Gain-
TMED4-
-
-
-
4Gain-
TMED8-
-
-
-
4Gain-
TMEFF1-
-
-
-
4Gain-
TMEM106B-
-
-
-
4Gain-
TMEM114-
-
-
-
4Gain-
TMEM120A-
-
-
-
3Gain-
TMEM121-
-
-
-
4Gain-
TMEM139-
-
-
-
4Gain-
TMEM140-
-
-
-
4Gain-
TMEM141-
-
-
-
3Gain-
TMEM159-
-
-
-
4Gain-
TMEM168-
-
-
-
4Gain-
TMEM176A-
-
-
-
4Gain-
TMEM176B-
-
-
-
4Gain-
TMEM178B-
-
-
-
4Gain-
TMEM179-
-
-
-
4Gain-
TMEM183A-
-
-
-
5Amp-
TMEM184A-
-
-
-
4Gain-
TMEM186-
-
-
-
4Gain-
TMEM189-
-
-
-
4Gain-
TMEM189-UBE2V1-
-
-
-
4Gain-
TMEM196-
-
-
-
4Gain-
TMEM203-
-
-
-
3Gain-
TMEM204-
-
-
-
4Gain-
TMEM206-
-
-
-
4Gain-
TMEM209-
-
-
-
3Gain-
TMEM210-
-
-
-
3Gain-
TMEM213-
-
-
-
4Gain-
TMEM215-
-
-
-
3Gain-
TMEM219-
-
-
-
3Gain-
TMEM229A-
-
-
-
4Gain-
TMEM229B-
-
-
-
4Gain-
TMEM230-
-
-
-
3Gain-
TMEM233p.E19Q
Missense
SNP
1.000
2--
TMEM239-
-
-
-
4Gain-
TMEM243-
-
-
-
4Gain-
TMEM245-
-
-
-
4Gain-
TMEM246-
-
-
-
4Gain-
TMEM248-
-
-
-
5Amp-
TMEM250-
-
-
-
4Gain-
TMEM251-
-
-
-
4Gain-
TMEM252-
-
-
-
4Gain-
TMEM253-
-
-
-
3Gain-
TMEM260-
-
-
-
4Gain-
TMEM265-
-
-
-
3Gain-
TMEM268-
-
-
-
3Gain-
TMEM270-
-
-
-
5Amp-
TMEM30B-
-
-
-
4Gain-
TMEM38B-
-
-
-
4Gain-
TMEM60-
-
-
-
3Gain-
TMEM63A-
-
-
-
4Gain-
TMEM63C-
-
-
-
4Gain-
TMEM74B-
-
-
-
4Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
4Gain-
TMEM8A-
-
-
-
4Gain-
TMEM8B-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMOD1-
-
-
-
4Gain-
TMOD4-
-
-
-
3Gain-
TMUB1-
-
-
-
4Gain-
TMX1-
-
-
-
4Gain-
TMX4-
-
-
-
3Gain-
TNC-
-
-
-
3Gain-
TNFAIP2-
-
-
-
4Gain-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF12A-
-
-
-
4Gain-
TNFRSF17-
-
-
-
4Gain-
TNFRSF6B-
-
-
-
4Gain-
TNFSF15-
-
-
-
3Gain-
TNFSF18-
-
-
-
4Gain-
TNFSF4-
-
-
-
4Gain-
TNFSF8-
-
-
-
3Gain-
TNN-
-
-
-
4Gain-
TNNC2-
-
-
-
4Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNP2-
-
-
-
4Gain-
TNPO3-
-
-
-
3Gain-
TNR-
-
-
-
4Gain-
TNRC18-
-
-
-
4Gain-
TNRC6A-
-
-
-
4Gain-
TNS3-
-
-
-
4Gain-
TNS4p.Q602H
Missense
SNP
1.000
2--
TOGARAM1-
-
-
-
4Gain-
TOMM20-
-
-
-
4Gain-
TOMM20L-
-
-
-
4Gain-
TOMM34-
-
-
-
4Gain-
TOMM40L-
-
-
-
4Gain-
TOMM5-
-
-
-
3Gain-
TOMM7-
-
-
-
4Gain-
TOP1-
-
-
-
4Gain-
TOPORS-
-
-
-
3Gain-
TOR1A-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
4Gain-
TOR1AIP2-
-
-
-
4Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOR3A-
-
-
-
4Gain-
TOR4A-
-
-
-
3Gain-
TOX2-
-
-
-
4Gain-
TOX4-
-
-
-
3Gain-
TP53BP2-
-
-
-
4Gain-
TP53INP2-
-
-
-
4Gain-
TP53RK-
-
-
-
4Gain-
TP53TG3-
-
-
-
4Gain-
TP53TG3B-
-
-
-
4Gain-
TP53TG3C-
-
-
-
4Gain-
TP53TG3D-
-
-
-
4Gain-
TP53TG3E-
-
-
-
4Gain-
TP53TG3F-
-
-
-
4Gain-
TP53TG5-
-
-
-
4Gain-
TPD52L2-
-
-
-
4Gain-
TPD52L3-
-
-
-
3Gain-
TPK1-
-
-
-
4Gain-
TPM2-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPPP2-
-
-
-
3Gain-
TPR-
-
-
-
4Gain-
TPRN-
-
-
-
3Gain-
TPSAB1-
-
-
-
4Gain-
TPSB2-
-
-
-
4Gain-
TPSD1-
-
-
-
4Gain-
TPSG1-
-
-
-
4Gain-
TPST1-
-
-
-
5Amp-
TPX2-
-
-
-
4Gain-
TRA2A-
-
-
-
4Gain-
TRAF1-
-
-
-
3Gain-
TRAF2-
-
-
-
3Gain-
TRAF3-
-
-
-
4Gain-
TRAF3IP3-
-
-
-
4Gain-
TRAF5-
-
-
-
4Gain-
TRAF7-
-
-
-
4Gain-
TRAM2p.R232T
Missense
SNP
1.000
2--
TRAP1-
-
-
-
4Gain-
TRAPPC6B-
-
-
-
4Gain-
TRIB3-
-
-
-
4Gain-
TRIL-
-
-
-
4Gain-
TRIM11-
-
-
-
4Gain-
TRIM14-
-
-
-
4Gain-
TRIM17-
-
-
-
4Gain-
TRIM24-
-
-
-
4Gain-
TRIM32-
-
-
-
3Gain-
TRIM33p.Q215*
Nonsense
SNP
1.000
2--
TRIM46-
-
-
-
4Gain-
TRIM50-
-
-
-
5Amp-
TRIM58-
-
-
-
4Gain-
TRIM67-
-
-
-
4Gain-
TRIM72-
-
-
-
3Gain-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
5Amp-
TRIM9-
-
-
-
4Gain-
TRIP11-
-
-
-
4Gain-
TRMO-
-
-
-
4Gain-
TRMT10B-
-
-
-
3Gain-
TRMT1L-
-
-
-
4Gain-
TRMT5-
-
-
-
4Gain-
TRMT6-
-
-
-
3Gain-
TRMT61A-
-
-
-
4Gain-
TROVE2-
-
-
-
4Gain-
TRPC4APp.K201N
p.K187N
Missense
Missense
SNP
SNP
0.378
0.369
4Gain-
TRPC5p.K843N
Missense
SNP
0.481
NDND-
TRPM3-
-
-
-
4Gain-
TRPM6-
-
-
-
4Gain-
TRPV5-
-
-
-
4Gain-
TRPV6-
-
-
-
4Gain-
TRUB2-
-
-
-
3Gain-
TSACC-
-
-
-
3Gain-
TSC1-
-
-
-
4Gain-
TSC2-
-
-
-
4Gain-
TSEN15-
-
-
-
4Gain-
TSGA13-
-
-
-
4Gain-
TSHR-
-
-
-
4Gain-
TSHZ2-
-
-
-
4Gain-
TSNAX-
-
-
-
4Gain-
TSNAX-DISC1-
-
-
-
4Gain-
TSPAN12-
-
-
-
4Gain-
TSPAN13-
-
-
-
4Gain-
TSPAN33-
-
-
-
3Gain-
TSR3-
-
-
-
4Gain-
TSSK4-
-
-
-
3Gain-
TSSK6p.D194N
Missense
SNP
1.000
2--
TSTD1-
-
-
-
4Gain-
TSTD2-
-
-
-
4Gain-
TTC13-
-
-
-
4Gain-
TTC16-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC26-
-
-
-
4Gain-
TTC39B-
-
-
-
4Gain-
TTC5-
-
-
-
3Gain-
TTC6-
-
-
-
4Gain-
TTC7B-
-
-
-
4Gain-
TTC8-
-
-
-
4Gain-
TTC9-
-
-
-
4Gain-
TTF1-
-
-
-
4Gain-
TTI1-
-
-
-
4Gain-
TTLL11-
-
-
-
3Gain-
TTLL5-
-
-
-
4Gain-
TTLL9-
-
-
-
4Gain-
TTPAL-
-
-
-
4Gain-
TTYH3-
-
-
-
4Gain-
TUBB1-
-
-
-
4Gain-
TUBB4B-
-
-
-
3Gain-
TUFM-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TUSC1-
-
-
-
3Gain-
TUT7-
-
-
-
4Gain-
TVP23A-
-
-
-
4Gain-
TWIST1-
-
-
-
4Gain-
TWISTNB-
-
-
-
4Gain-
TXN-
-
-
-
4Gain-
TXNDC11-
-
-
-
4Gain-
TXNDC16-
-
-
-
4Gain-
TXNDC8-
-
-
-
4Gain-
TXNIP-
-
-
-
3Gain-
TYRP1-
-
-
-
4Gain-
TYW1-
-
-
-
5Amp-
TYW1B-
-
-
-
5Amp-
UAP1-
-
-
-
4Gain-
UAP1L1-
-
-
-
3Gain-
UBAC1-
-
-
-
4Gain-
UBALD1-
-
-
-
4Gain-
UBAP1-
-
-
-
3Gain-
UBAP2-
-
-
-
3Gain-
UBAP2L-
-
-
-
4Gain-
UBE2C-
-
-
-
4Gain-
UBE2D4-
-
-
-
4Gain-
UBE2H-
-
-
-
3Gain-
UBE2I-
-
-
-
4Gain-
UBE2Q1-
-
-
-
4Gain-
UBE2R2-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBE2V1-
-
-
-
4Gain-
UBE3C-
-
-
-
4Gain-
UBFD1-
-
-
-
3Gain-
UBN1-
-
-
-
4Gain-
UBN2-
-
-
-
4Gain-
UBOX5-
-
-
-
4Gain-
UBQLN1-
-
-
-
4Gain-
UBQLN4-
-
-
-
3Gain-
UBR3p.Q524E
Missense
SNP
1.000
2--
UBR7-
-
-
-
4Gain-
UCHL5-
-
-
-
4Gain-
UCK1-
-
-
-
4Gain-
UCK2-
-
-
-
4Gain-
UCKL1-
-
-
-
4Gain-
UFC1-
-
-
-
4Gain-
UGCG-
-
-
-
4Gain-
UGT2A1-
-
-
-
3Gain-
UGT2A2-
-
-
-
3Gain-
UGT2A3-
-
-
-
3Gain-
UGT2B10-
-
-
-
3Gain-
UGT2B11-
-
-
-
3Gain-
UGT2B15-
-
-
-
3Gain-
UGT2B17-
-
-
-
3Gain-
UGT2B28-
-
-
-
3Gain-
UGT2B4-
-
-
-
3Gain-
UGT2B7-
-
-
-
3Gain-
UHMK1-
-
-
-
4Gain-
UHRF2-
-
-
-
3Gain-
UMOD-
-
-
-
3Gain-
UNC13Bp.Q672E
Missense
SNP
0.500
3Gain-
UNC79-
-
-
-
4Gain-
UNCX-
-
-
-
4Gain-
UNKL-
-
-
-
4Gain-
UPK3B-
-
-
-
3Gain-
UPP1-
-
-
-
4Gain-
UQCC1-
-
-
-
4Gain-
UQCRC2-
-
-
-
4Gain-
URB2-
-
-
-
4Gain-
URGCP-
-
-
-
4Gain-
URGCP-MRPS24-
-
-
-
4Gain-
URM1-
-
-
-
3Gain-
USF1-
-
-
-
4Gain-
USH2A-
-
-
-
4Gain-
USP14p.Y151H
Missense
SNP
1.000
2--
USP17L12-
-
-
-
5Amp-
USP17L13-
-
-
-
5Amp-
USP17L18-
-
-
-
5Amp-
USP17L19-
-
-
-
5Amp-
USP17L21-
-
-
-
5Amp-
USP17L22-
-
-
-
5Amp-
USP17L23-
-
-
-
5Amp-
USP17L24-
-
-
-
5Amp-
USP17L25-
-
-
-
5Amp-
USP17L26-
-
-
-
5Amp-
USP17L27-
-
-
-
5Amp-
USP17L28-
-
-
-
5Amp-
USP17L29-
-
-
-
5Amp-
USP17L30-
-
-
-
5Amp-
USP17L5-
-
-
-
5Amp-
USP20-
-
-
-
3Gain-
USP21-
-
-
-
4Gain-
USP31p.S803F
Missense
SNP
0.526
5Amp-
USP42-
-
-
-
4Gain-
USP7-
-
-
-
4Gain-
UTP25-
-
-
-
4Gain-
VAMP4-
-
-
-
4Gain-
VANGL2-
-
-
-
4Gain-
VAPB-
-
-
-
4Gain-
VASH1-
-
-
-
4Gain-
VASH2-
-
-
-
4Gain-
VASN-
-
-
-
4Gain-
VAV2-
-
-
-
4Gain-
VCP-
-
-
-
3Gain-
VCPKMT-
-
-
-
4Gain-
VHLL-
-
-
-
3Gain-
VIPAS39-
-
-
-
4Gain-
VIPR2-
-
-
-
4Gain-
VKORC1-
-
-
-
3Gain-
VKORC1L1-
-
-
-
5Amp-
VLDLR-
-
-
-
3Gain-
VOPP1-
-
-
-
4Gain-
VPS13A-
-
-
-
4Gain-
VPS16-
-
-
-
4Gain-
VPS35L-
-
-
-
3Gain-
VPS37D-
-
-
-
5Amp-
VPS41-
-
-
-
4Gain-
VPS45-
-
-
-
3Gain-
VPS50-
-
-
-
4Gain-
VPS72-
-
-
-
3Gain-
VRK1-
-
-
-
5Amp-
VRTNp.S345*
Nonsense
SNP
0.438
4Gain-
VSIG8-
-
-
-
4Gain-
VSTM2A-
-
-
-
4Gain-
VSTM2L-
-
-
-
4Gain-
VSX1-
-
-
-
4Gain-
VSX2-
-
-
-
4Gain-
VTI1B-
-
-
-
4Gain-
VWA3A-
-
-
-
4Gain-
VWC2-
-
-
-
4Gain-
VWDE-
-
-
-
4Gain-
WARS-
-
-
-
5Amp-
WASHC1-
-
-
-
3Gain-
WASL-
-
-
-
4Gain-
WDHD1-
-
-
-
4Gain-
WDR20-
-
-
-
4Gain-
WDR24-
-
-
-
4Gain-
WDR25-
-
-
-
5Amp-
WDR26-
-
-
-
4Gain-
WDR31-
-
-
-
4Gain-
WDR34-
-
-
-
3Gain-
WDR38-
-
-
-
3Gain-
WDR5-
-
-
-
4Gain-
WDR60-
-
-
-
4Gain-
WDR64-
-
-
-
4Gain-
WDR86-
-
-
-
4Gain-
WDR89-
-
-
-
4Gain-
WDR90-
-
-
-
4Gain-
WDR91-
-
-
-
4Gain-
WEE2-
-
-
-
4Gain-
WFDC10A-
-
-
-
4Gain-
WFDC10B-
-
-
-
4Gain-
WFDC11-
-
-
-
4Gain-
WFDC12-
-
-
-
4Gain-
WFDC13-
-
-
-
4Gain-
WFDC2-
-
-
-
4Gain-
WFDC3-
-
-
-
4Gain-
WFDC5-
-
-
-
4Gain-
WFDC6-
-
-
-
4Gain-
WFDC8-
-
-
-
4Gain-
WFDC9-
-
-
-
4Gain-
WFIKKN1-
-
-
-
4Gain-
WHRN-
-
-
-
3Gain-
WIPF3-
-
-
-
4Gain-
WIPI2-
-
-
-
4Gain-
WISP2-
-
-
-
4Gain-
WNK2-
-
-
-
4Gain-
WNT16-
-
-
-
4Gain-
WNT2-
-
-
-
4Gain-
WNT3A-
-
-
-
4Gain-
WNT9A-
-
-
-
4Gain-
XCL1-
-
-
-
4Gain-
XCL2-
-
-
-
4Gain-
XKR7-
-
-
-
4Gain-
XPA-
-
-
-
4Gain-
XPO5p.M506I
Missense
SNP
1.000
2--
XPO6-
-
-
-
5Amp-
XPR1-
-
-
-
4Gain-
XRCC2-
-
-
-
4Gain-
XRCC3-
-
-
-
4Gain-
XRN2-
-
-
-
4Gain-
XYLT1-
-
-
-
5Amp-
YAE1-
-
-
-
4Gain-
YKT6-
-
-
-
4Gain-
YLPM1-
-
-
-
4Gain-
YOD1-
-
-
-
4Gain-
YPEL3-
-
-
-
3Gain-
YTHDF1-
-
-
-
4Gain-
YWHAB-
-
-
-
4Gain-
YWHAG-
-
-
-
3Gain-
YY1-
-
-
-
5Amp-
YY1AP1-
-
-
-
3Gain-
Z98752.3-
-
-
-
4Gain-
ZBED6-
-
-
-
5Amp-
ZBED6CL-
-
-
-
4Gain-
ZBP1-
-
-
-
4Gain-
ZBTB1-
-
-
-
4Gain-
ZBTB18-
-
-
-
4Gain-
ZBTB20p.I243M
Missense
SNP
1.000
2--
ZBTB25-
-
-
-
4Gain-
ZBTB26-
-
-
-
3Gain-
ZBTB32p.S402Y
Missense
SNP
1.000
2--
ZBTB34-
-
-
-
3Gain-
ZBTB37-
-
-
-
4Gain-
ZBTB41-
-
-
-
4Gain-
ZBTB42-
-
-
-
4Gain-
ZBTB43-
-
-
-
3Gain-
ZBTB46-
-
-
-
4Gain-
ZBTB5-
-
-
-
3Gain-
ZBTB6-
-
-
-
3Gain-
ZBTB7B-
-
-
-
4Gain-
ZC2HC1C-
-
-
-
4Gain-
ZC3H11A-
-
-
-
5Amp-
ZC3H14-
-
-
-
4Gain-
ZC3H7A-
-
-
-
4Gain-
ZC3HAV1-
-
-
-
4Gain-
ZC3HAV1L-
-
-
-
4Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC3-
-
-
-
4Gain-
ZCCHC7-
-
-
-
3Gain-
ZCWPW1p.N7S
Missense
SNP
1.000
2--
ZDHHC12-
-
-
-
3Gain-
ZDHHC21-
-
-
-
4Gain-
ZDHHC22-
-
-
-
4Gain-
ZDHHC4-
-
-
-
4Gain-
ZEB1p.I615Lfs*5
Frame_Shift_Del
DEL
0.903
2--
ZER1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
4Gain-
ZFAND5-
-
-
-
4Gain-
ZFHX2-
-
-
-
5Amp-
ZFP36L1-
-
-
-
4Gain-
ZFP37p.Q551H
Missense
SNP
0.540
4Gain-
ZFP64-
-
-
-
4Gain-
ZFYVE1-
-
-
-
4Gain-
ZFYVE21-
-
-
-
4Gain-
ZFYVE26-
-
-
-
4Gain-
ZG16-
-
-
-
3Gain-
ZG16B-
-
-
-
4Gain-
ZGPAT-
-
-
-
4Gain-
ZHX3-
-
-
-
4Gain-
ZKSCAN2-
-
-
-
4Gain-
ZMIZ2-
-
-
-
4Gain-
ZMYND10p.E377K
Missense
SNP
1.000
2--
ZMYND19-
-
-
-
3Gain-
ZMYND8-
-
-
-
4Gain-
ZNF107-
-
-
-
5Amp-
ZNF112p.F888L
Missense
SNP
1.000
2--
ZNF117-
-
-
-
5Amp-
ZNF12-
-
-
-
4Gain-
ZNF124-
-
-
-
4Gain-
ZNF133-
-
-
-
4Gain-
ZNF138-
-
-
-
5Amp-
ZNF169-
-
-
-
4Gain-
ZNF174-
-
-
-
4Gain-
ZNF189-
-
-
-
4Gain-
ZNF200-
-
-
-
4Gain-
ZNF205-
-
-
-
4Gain-
ZNF212-
-
-
-
4Gain-
ZNF213-
-
-
-
4Gain-
ZNF217-
-
-
-
4Gain-
ZNF219-
-
-
-
3Gain-
ZNF263-
-
-
-
4Gain-
ZNF267-
-
-
-
4Gain-
ZNF273-
-
-
-
5Amp-
ZNF277-
-
-
-
4Gain-
ZNF281-
-
-
-
4Gain-
ZNF282-
-
-
-
4Gain-
ZNF316-
-
-
-
4Gain-
ZNF334-
-
-
-
4Gain-
ZNF335-
-
-
-
4Gain-
ZNF337-
-
-
-
4Gain-
ZNF341-
-
-
-
4Gain-
ZNF343-
-
-
-
4Gain-
ZNF367-
-
-
-
4Gain-
ZNF398-
-
-
-
4Gain-
ZNF410-
-
-
-
4Gain-
ZNF425-
-
-
-
4Gain-
ZNF462-
-
-
-
4Gain-
ZNF467-
-
-
-
4Gain-
ZNF479-
-
-
-
3Gain-
ZNF48-
-
-
-
3Gain-
ZNF483-
-
-
-
4Gain-
ZNF484-
-
-
-
4Gain-
ZNF496-
-
-
-
4Gain-
ZNF500-
-
-
-
4Gain-
ZNF510-
-
-
-
4Gain-
ZNF512B-
-
-
-
4Gain-
ZNF597-
-
-
-
4Gain-
ZNF598-
-
-
-
4Gain-
ZNF618-
-
-
-
4Gain-
ZNF629-
-
-
-
3Gain-
ZNF646-
-
-
-
3Gain-
ZNF648-
-
-
-
4Gain-
ZNF658-
-
-
-
4Gain-
ZNF668-
-
-
-
3Gain-
ZNF669-
-
-
-
4Gain-
ZNF670-
-
-
-
4Gain-
ZNF670-ZNF695-
-
-
-
4Gain-
ZNF672-
-
-
-
4Gain-
ZNF678-
-
-
-
4Gain-
ZNF679-
-
-
-
5Amp-
ZNF680-
-
-
-
5Amp-
ZNF687-
-
-
-
3Gain-
ZNF688-
-
-
-
3Gain-
ZNF689-
-
-
-
3Gain-
ZNF692-
-
-
-
4Gain-
ZNF695-
-
-
-
4Gain-
ZNF713-
-
-
-
3Gain-
ZNF714p.R333T
Missense
SNP
1.000
2--
ZNF716-
-
-
-
3Gain-
ZNF720-
-
-
-
4Gain-
ZNF727-
-
-
-
5Amp-
ZNF735-
-
-
-
5Amp-
ZNF736-
-
-
-
5Amp-
ZNF746-
-
-
-
4Gain-
ZNF747-
-
-
-
3Gain-
ZNF75A-
-
-
-
4Gain-
ZNF764-
-
-
-
3Gain-
ZNF768-
-
-
-
3Gain-
ZNF771-
-
-
-
3Gain-
ZNF775-
-
-
-
4Gain-
ZNF777-
-
-
-
4Gain-
ZNF782-
-
-
-
4Gain-
ZNF783-
-
-
-
4Gain-
ZNF785-
-
-
-
3Gain-
ZNF786-
-
-
-
4Gain-
ZNF79-
-
-
-
3Gain-
ZNF800-
-
-
-
4Gain-
ZNF804B-
-
-
-
4Gain-
ZNF831p.E521K
Missense
SNP
0.478
4Gain-
ZNF839-
-
-
-
4Gain-
ZNF843-
-
-
-
4Gain-
ZNF853-
-
-
-
4Gain-
ZNF862-
-
-
-
4Gain-
ZNF878p.K197Nfs*16
Frame_Shift_Del
DEL
0.078
2--
ZNF883-
-
-
-
4Gain-
ZNF92-
-
-
-
5Amp-
ZNFX1-
-
-
-
4Gain-
ZNRF2-
-
-
-
4Gain-
ZP2-
-
-
-
4Gain-
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
4Gain-
ZPBP-
-
-
-
4Gain-
ZSCAN10-
-
-
-
4Gain-
ZSCAN32-
-
-
-
4Gain-
ZSWIM1-
-
-
-
4Gain-
ZSWIM3-
-
-
-
4Gain-
ZYX-
-
-
-
4Gain-