PDMR-216738~123-R~FEVF40-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARD-
-
-
-
5Amp-
ABCA1-
-
-
-
1Loss-
ABCA2-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABHD12B-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD17B-
-
-
-
1Loss-
ABHD3-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABL1-
-
-
-
1Loss-
ABO-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
4Gain-
AC001226.2-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC009879.2-
-
-
-
4Gain-
AC009879.3-
-
-
-
4Gain-
AC012213.5-
-
-
-
4Gain-
AC012254.2-
-
-
-
1Loss-
AC022384.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
4Gain-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC036214.3-
-
-
-
4Gain-
AC037459.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
5Amp-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
5Amp-
AC138696.1-
-
-
-
5Amp-
AC144573.1-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACKR2-
-
-
-
1Loss-
ACO1-
-
-
-
1Loss-
ACOD1-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACTL7A-
-
-
-
1Loss-
ACTL7B-
-
-
-
1Loss-
ACTN1-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACYP1-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS13-
-
-
-
1Loss-
ADAMTS20p.X1600_splice
Splice_Site
SNP
0.518
2--
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL2-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK5-
-
-
-
5Amp-
ADCY4-
-
-
-
1Loss-
ADCY8-
-
-
-
5Amp-
ADCYAP1-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRB1-
-
-
-
5Amp-
ADGRB3-
-
-
-
1Loss-
ADGRD2-
-
-
-
1Loss-
ADHFE1-
-
-
-
4Gain-
ADNP2-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRHL1-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
AFG3L2-
-
-
-
1Loss-
AGO2-
-
-
-
5Amp-
AGPAT2-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGTPBP1-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHSA1-
-
-
-
1Loss-
AIF1L-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AJM1-
-
-
-
1Loss-
AJUBA-
-
-
-
1Loss-
AK1-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AK8-
-
-
-
1Loss-
AKAIN1-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP2-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKNA-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL110118.2-
-
-
-
1Loss-
AL121594.1-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL157935.2-
-
-
-
1Loss-
AL160269.1-
-
-
-
1Loss-
AL160272.2-
-
-
-
1Loss-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL162417.1-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL355987.1-
-
-
-
1Loss-
AL355987.3-
-
-
-
1Loss-
AL358113.1-
-
-
-
1Loss-
AL359736.1-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL445238.1-
-
-
-
1Loss-
AL445989.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
1Loss-
AL513165.2-
-
-
-
1Loss-
AL589666.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL672142.1-
-
-
-
1Loss-
AL807752.6-
-
-
-
1Loss-
AL807752.7-
-
-
-
1Loss-
AL928654.3-
-
-
-
1Loss-
AL929554.1-
-
-
-
1Loss-
ALAD-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH6A1-
-
-
-
1Loss-
ALDOB-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG2-
-
-
-
1Loss-
ALG5-
-
-
-
1Loss-
ALKAL1-
-
-
-
4Gain-
ALKBH1-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
AMBP-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
ANAPC2-
-
-
-
1Loss-
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGPT1-
-
-
-
4Gain-
ANGPT2-
-
-
-
1Loss-
ANGPTL2-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD12-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD20A2-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD29-
-
-
-
1Loss-
ANKRD30B-
-
-
-
1Loss-
ANKRD46-
-
-
-
4Gain-
ANKRD52p.G151M
Missense
DNP
0.318
2--
ANKRD62-
-
-
-
1Loss-
ANKRD9-
-
-
-
1Loss-
ANKS6-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANP32B-
-
-
-
1Loss-
ANXA1-
-
-
-
1Loss-
ANXA13-
-
-
-
5Amp-
AP1G2-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP4S1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
APBA1-
-
-
-
1Loss-
APCDD1-
-
-
-
1Loss-
APEH-
-
-
-
1Loss-
APEX1-
-
-
-
1Loss-
APOPT1-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
ARC-
-
-
-
5Amp-
AREL1-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARF6-
-
-
-
1Loss-
ARFGEF1-
-
-
-
4Gain-
ARG2-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP28-
-
-
-
1Loss-
ARHGAP39-
-
-
-
5Amp-
ARHGAP44-
-
-
-
1Loss-
ARHGAP5-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF39-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARHGEF5-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL17A-
-
-
-
2-ARL17A--KANSL1
ARL8B-
-
-
-
1Loss-
ARMC1-
-
-
-
4Gain-
ARMH4-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5L-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC1-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
5Amp-
ASB14-
-
-
-
1Loss-
ASB2-
-
-
-
1Loss-
ASB6-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPH-
-
-
-
4Gain-
ASPN-
-
-
-
1Loss-
ASS1-
-
-
-
1Loss-
ASTN2-
-
-
-
1Loss-
ASXL3-
-
-
-
1Loss-
ATAD2-
-
-
-
5Amp-
ATG14-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATL1-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP12A-
-
-
-
1Loss-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5MPL-
-
-
-
1Loss-
ATP5S-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
4Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
4Gain-
ATP6V1D-
-
-
-
1Loss-
ATP6V1G1-
-
-
-
1Loss-
ATP6V1H-
-
-
-
4Gain-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B3p.V1053M
Missense
SNP
0.533
2--
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
AUH-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
4Gain-
B3GAT2-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT6-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BAALC-
-
-
-
4Gain-
BAAT-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARHL1-
-
-
-
1Loss-
BARX1-
-
-
-
1Loss-
BATF-
-
-
-
1Loss-
BAZ1A-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BCKDHB-
-
-
-
1Loss-
BCKDKp.R187C
Missense
SNP
0.466
2--
BCL11B-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BEGAINp.E478D
Missense
SNP
1.000
1Loss-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
4Gain-
BHLHE40-
-
-
-
1Loss-
BICD2-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOP1-
-
-
-
5Amp-
BORA-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BRCA2-
-
-
-
1Loss-
BRD3-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRINP1-
-
-
-
1Loss-
BRK1-
-
-
-
1Loss-
BRMS1L-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSPRY-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C1orf94p.E152K
Missense
SNP
0.480
2--
C1QBP-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C5-
-
-
-
1Loss-
C8G-
-
-
-
1Loss-
C8orf33-
-
-
-
5Amp-
C8orf34-
-
-
-
4Gain-
C8orf37-
-
-
-
4Gain-
C8orf44-
-
-
-
4Gain-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
4Gain-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
5Amp-
C8orf82-
-
-
-
5Amp-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
4Gain-
C8orf89-
-
-
-
4Gain-
C9orf116-
-
-
-
1Loss-
C9orf129-
-
-
-
1Loss-
C9orf131-
-
-
-
1Loss-
C9orf135-
-
-
-
1Loss-
C9orf152-
-
-
-
1Loss-
C9orf153-
-
-
-
1Loss-
C9orf16-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf3-
-
-
-
1Loss-
C9orf40-
-
-
-
1Loss-
C9orf43-
-
-
-
1Loss-
C9orf50-
-
-
-
1Loss-
C9orf57-
-
-
-
1Loss-
C9orf64-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf78-
-
-
-
1Loss-
C9orf84-
-
-
-
1Loss-
C9orf85-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
4Gain-
CA13-
-
-
-
4Gain-
CA2-
-
-
-
4Gain-
CA3-
-
-
-
4Gain-
CA8-
-
-
-
4Gain-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABLES1-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACFD1-
-
-
-
1Loss-
CACNA1B-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALB1-
-
-
-
4Gain-
CALM1-
-
-
-
1Loss-
CALRp.W289C
Missense
SNP
0.534
2--
CAMK1-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP1-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CARD19-
-
-
-
1Loss-
CARD9-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARNMT1-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN4-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC166-
-
-
-
5Amp-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC180-
-
-
-
1Loss-
CCDC183-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCIN-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL27-
-
-
-
1Loss-
CCNA1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCNE2-
-
-
-
4Gain-
CCNK-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CD109-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDC14B-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC26-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC42BPB-
-
-
-
1Loss-
CDCA2-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDH17-
-
-
-
4Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH24-
-
-
-
1Loss-
CDH26p.E320D
Missense
SNP
0.403
2--
CDH7-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDK20-
-
-
-
1Loss-
CDK5RAP2-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDK9-
-
-
-
1Loss-
CDKL1-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDX2-
-
-
-
1Loss-
CEBPD-
-
-
-
4Gain-
CEBPE-
-
-
-
1Loss-
CEL-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP2-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPP-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP162-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CEP192-
-
-
-
1Loss-
CEP76-
-
-
-
1Loss-
CEP78-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERCAM-
-
-
-
1Loss-
CETN1-
-
-
-
1Loss-
CFAP157-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP77-
-
-
-
1Loss-
CFL2-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGRRF1-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHCHD4-
-
-
-
1Loss-
CHCHD7-
-
-
-
4Gain-
CHD3-
-
-
-
1Loss-
CHD7-
-
-
-
4Gain-
CHD8-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHGA-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4C-
-
-
-
4Gain-
CHMP5-
-
-
-
1Loss-
CHMP7-
-
-
-
1Loss-
CHRAC1-
-
-
-
5Amp-
CHRNA2-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CIZ1-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKS2-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLDN10-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLIC3-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLTA-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CLVS1-
-
-
-
4Gain-
CLYBL-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CNBD1-
-
-
-
4Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGB3-
-
-
-
4Gain-
CNIH1-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTNAP2-
-
-
-
3Gain-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
CNTNAP4p.R1263C
Missense
SNP
0.329
2--
CNTRL-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COCH-
-
-
-
1Loss-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COL12A1p.D2189G
Missense
SNP
1.000
1Loss-
COL14A1-
-
-
-
5Amp-
COL15A1-
-
-
-
1Loss-
COL19A1-
-
-
-
1Loss-
COL22A1-
-
-
-
5Amp-
COL27A1-
-
-
-
1Loss-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL5A1-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COL9A1p.P276L
Missense
SNP
1.000
1Loss-
COLEC10-
-
-
-
5Amp-
COLEC12-
-
-
-
1Loss-
COLQ-
-
-
-
1Loss-
COMMD5-
-
-
-
5Amp-
COMMD6-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COPS5-
-
-
-
4Gain-
COQ4-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
CORO2A-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX6C-
-
-
-
4Gain-
COX7A2-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CPA6-
-
-
-
4Gain-
CPB2-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPNE3-
-
-
-
4Gain-
CPNE6-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPQ-
-
-
-
4Gain-
CPSF1-
-
-
-
5Amp-
CPSF2-
-
-
-
1Loss-
CRAT-
-
-
-
1Loss-
CRB2-
-
-
-
1Loss-
CREB3-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRH-
-
-
-
4Gain-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRISPLD1-
-
-
-
4Gain-
CRK-
-
-
-
1Loss-
CROCC-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRYL1-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSMD1-
-
-
-
1Loss-
CSMD3-
-
-
-
5Amp-
CSNK1A1L-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
4Gain-
CSRNP1-
-
-
-
1Loss-
CTAGE1-
-
-
-
1Loss-
CTAGE4-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTHRC1-
-
-
-
4Gain-
CTIF-
-
-
-
1Loss-
CTNNAL1-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTSBp.M52I
Missense
SNP
0.994
1Loss-
CTSG-
-
-
-
1Loss-
CTSL-
-
-
-
1Loss-
CTSV-
-
-
-
1Loss-
CUL4A-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYC1-
-
-
-
5Amp-
CYHR1-
-
-
-
5Amp-
CYLC2-
-
-
-
1Loss-
CYP11B1-
-
-
-
5Amp-
CYP11B2-
-
-
-
5Amp-
CYP2W1p.N218T
Missense
SNP
0.484
2--
CYP46A1-
-
-
-
1Loss-
CYP7A1-
-
-
-
4Gain-
CYP7B1-
-
-
-
4Gain-
CYP8B1-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYSRT1-
-
-
-
1Loss-
DAAM1-
-
-
-
1Loss-
DAB2IP-
-
-
-
1Loss-
DACH1-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAPK1-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBH-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF13-
-
-
-
4Gain-
DCAF4-
-
-
-
1Loss-
DCAF4L2-
-
-
-
4Gain-
DCAF5-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCSTAMP-
-
-
-
4Gain-
DCT-
-
-
-
1Loss-
DCTN3-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCUN1D2-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX31-
-
-
-
1Loss-
DDX43-
-
-
-
1Loss-
DDX58-
-
-
-
1Loss-
DEC1-
-
-
-
1Loss-
DECR1-
-
-
-
4Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS2-
-
-
-
1Loss-
DENND1A-
-
-
-
1Loss-
DENND3-
-
-
-
5Amp-
DENND4C-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPTOR-
-
-
-
5Amp-
DERL1-
-
-
-
5Amp-
DERL2-
-
-
-
1Loss-
DGAT1-
-
-
-
5Amp-
DGKH-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHHp.G278E
Missense
SNP
0.485
2--
DHRS1-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DIAPH3-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIRAS2-
-
-
-
1Loss-
DIS3-
-
-
-
1Loss-
DIS3Lp.V335L
Missense
SNP
0.506
2--
DKK4-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP1-
-
-
-
1Loss-
DLGAP2-
-
-
-
1Loss-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAH1-
-
-
-
1Loss-
DNAH10p.A2326V
Missense
SNP
0.511
2--
DNAH12-
-
-
-
1Loss-
DNAH14p.C3102R
Missense
SNP
0.482
2--
DNAH2-
-
-
-
1Loss-
DNAH8p.E890A
Missense
SNP
0.455
2--
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJB5-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC25-
-
-
-
1Loss-
DNAJC25-GNG10-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC5B-
-
-
-
4Gain-
DNAL1-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNLZ-
-
-
-
1Loss-
DNM1-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK10p.M1815I
Missense
SNP
0.420
2--
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOCK9-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOLK-
-
-
-
1Loss-
DOLPP1-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH7-
-
-
-
1Loss-
DPM2-
-
-
-
1Loss-
DPP7-
-
-
-
1Loss-
DPPA5-
-
-
-
1Loss-
DPY19L4-
-
-
-
4Gain-
DPYS-
-
-
-
4Gain-
DPYSL2-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCC1-
-
-
-
5Amp-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DTD2-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DUSP26-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
E2F5-
-
-
-
4Gain-
EAF1-
-
-
-
1Loss-
EAPP-
-
-
-
1Loss-
EBAG9-
-
-
-
4Gain-
EBF2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECM2-
-
-
-
1Loss-
ECPAS-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDF1-
-
-
-
1Loss-
EDNRB-
-
-
-
1Loss-
EEF1A1-
-
-
-
1Loss-
EEF1AKMT1-
-
-
-
1Loss-
EEF1D-
-
-
-
5Amp-
EFCAB1-
-
-
-
4Gain-
EFCAB11-
-
-
-
1Loss-
EFHB-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
5Amp-
EFS-
-
-
-
1Loss-
EGFL7-
-
-
-
1Loss-
EGLN3-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHMT1-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2B2-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF3E-
-
-
-
4Gain-
EIF3H-
-
-
-
5Amp-
EIF4A1-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF5-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELF1-
-
-
-
1Loss-
ELMO2p.A117T
Missense
SNP
0.487
2--
ELMSAN1-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOC-
-
-
-
4Gain-
ELOVL4-
-
-
-
1Loss-
ELP1-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMC2-
-
-
-
4Gain-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EML1-
-
-
-
1Loss-
EML5-
-
-
-
1Loss-
ENDOG-
-
-
-
1Loss-
ENG-
-
-
-
1Loss-
ENHO-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPP2-
-
-
-
5Amp-
ENTPD2-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
ENTPD8-
-
-
-
1Loss-
ENTR1-
-
-
-
1Loss-
ENY2-
-
-
-
4Gain-
EOMES-
-
-
-
1Loss-
EPB41L3-
-
-
-
1Loss-
EPB41L4B-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHX2-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPPK1-
-
-
-
5Amp-
EPSTI1-
-
-
-
1Loss-
EQTN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERCC6L2-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERH-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH5-
-
-
-
4Gain-
ERICH6B-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERP44-
-
-
-
1Loss-
ESCO1-
-
-
-
1Loss-
ESCO2-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESR2-
-
-
-
1Loss-
ESRP1-
-
-
-
4Gain-
ESRRB-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXD3-
-
-
-
1Loss-
EXOC3L4-
-
-
-
1Loss-
EXOC5-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC2-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXOSC4-
-
-
-
5Amp-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXT1-
-
-
-
5Amp-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
4Gain-
F10-
-
-
-
1Loss-
F7-
-
-
-
1Loss-
F9p.L20S
Missense
SNP
0.498
NDND-
FABP12-
-
-
-
4Gain-
FABP4-
-
-
-
4Gain-
FABP5-
-
-
-
4Gain-
FABP9-
-
-
-
4Gain-
FAM102A-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM110B-
-
-
-
4Gain-
FAM120A-
-
-
-
1Loss-
FAM120AOS-
-
-
-
1Loss-
FAM122A-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM129B-
-
-
-
1Loss-
FAM135A-
-
-
-
1Loss-
FAM135B-
-
-
-
5Amp-
FAM155A-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM163B-
-
-
-
1Loss-
FAM166A-
-
-
-
1Loss-
FAM166B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM189A2-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM206A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM210A-
-
-
-
1Loss-
FAM214B-
-
-
-
1Loss-
FAM216B-
-
-
-
1Loss-
FAM219A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM240B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM49B-
-
-
-
5Amp-
FAM57A-
-
-
-
1Loss-
FAM69B-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM78A-
-
-
-
1Loss-
FAM83A-
-
-
-
5Amp-
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
5Amp-
FAM84B-
-
-
-
5Amp-
FAM91A1-
-
-
-
5Amp-
FAM92A-
-
-
-
4Gain-
FAM95C-
-
-
-
1Loss-
FANCAp.K1398Q
Missense
SNP
0.495
2--
FANCC-
-
-
-
1Loss-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FANCM-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FASNp.A1901V
Missense
SNP
0.484
2--
FBLN2-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBP1-
-
-
-
1Loss-
FBP2-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXL6-
-
-
-
5Amp-
FBXO10-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO32-
-
-
-
5Amp-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO43-
-
-
-
4Gain-
FBXW10-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW2-
-
-
-
1Loss-
FBXW5-
-
-
-
1Loss-
FCF1-
-
-
-
1Loss-
FCN1-
-
-
-
1Loss-
FCN2-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FER1L6-
-
-
-
5Amp-
FERMT2-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGD3-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF14-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIBCD1-
-
-
-
1Loss-
FILIP1-
-
-
-
1Loss-
FITM1-
-
-
-
1Loss-
FKBP15-
-
-
-
1Loss-
FKBP3-
-
-
-
1Loss-
FKTN-
-
-
-
1Loss-
FLCN-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLRT2-
-
-
-
1Loss-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLVCR2-
-
-
-
1Loss-
FNBP1-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOXA1-
-
-
-
1Loss-
FOXB2-
-
-
-
1Loss-
FOXE1-
-
-
-
1Loss-
FOXG1-
-
-
-
1Loss-
FOXH1-
-
-
-
5Amp-
FOXN3-
-
-
-
1Loss-
FOXO1-
-
-
-
1Loss-
FPGS-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FRMD3-
-
-
-
1Loss-
FRMD6-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FRRS1L-
-
-
-
1Loss-
FRY-
-
-
-
1Loss-
FSBP-
-
-
-
4Gain-
FSCB-
-
-
-
1Loss-
FSD1L-
-
-
-
1Loss-
FUBP3-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT7-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FXN-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
FZD6-
-
-
-
4Gain-
G2E3-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABBR2-
-
-
-
1Loss-
GADD45G-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GALC-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT12-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GALNT16-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALT-
-
-
-
1Loss-
GAPVD1-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GARNL3-
-
-
-
1Loss-
GAS1-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATA6-
-
-
-
1Loss-
GBA2-
-
-
-
1Loss-
GBGT1-
-
-
-
1Loss-
GCH1-
-
-
-
1Loss-
GCNT1-
-
-
-
1Loss-
GDA-
-
-
-
1Loss-
GDAP1-
-
-
-
4Gain-
GDF6-
-
-
-
4Gain-
GDPD4p.E619*
Nonsense
SNP
0.549
2--
GEM-
-
-
-
4Gain-
GEMIN2-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GFI1B-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GGACT-
-
-
-
1Loss-
GGH-
-
-
-
4Gain-
GGT6-
-
-
-
1Loss-
GHRL-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GJA3-
-
-
-
1Loss-
GJB2-
-
-
-
1Loss-
GJB6-
-
-
-
1Loss-
GKAP1-
-
-
-
1Loss-
GLB1-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLE1-
-
-
-
1Loss-
GLI4-
-
-
-
5Amp-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLT6D1-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GMFB-
-
-
-
1Loss-
GML-
-
-
-
5Amp-
GMPPB-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNA14-
-
-
-
1Loss-
GNAI2-
-
-
-
1Loss-
GNAL-
-
-
-
1Loss-
GNAQ-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNE-
-
-
-
1Loss-
GNG10-
-
-
-
1Loss-
GNG2-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GNPNAT1-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA1-
-
-
-
1Loss-
GOLGA2-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLM1-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GORASP1-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GPAA1-
-
-
-
5Amp-
GPALPP1-
-
-
-
1Loss-
GPAT4-
-
-
-
1Loss-
GPATCH2L-
-
-
-
1Loss-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPIHBP1-
-
-
-
5Amp-
GPR107-
-
-
-
1Loss-
GPR12-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137C-
-
-
-
1Loss-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR20-
-
-
-
5Amp-
GPR21-
-
-
-
1Loss-
GPR33-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM1-
-
-
-
1Loss-
GPT-
-
-
-
5Amp-
GPX1-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GREB1L-
-
-
-
1Loss-
GRHL2-
-
-
-
4Gain-
GRHPR-
-
-
-
1Loss-
GRIK2-
-
-
-
3Gain-
GRIN1-
-
-
-
1Loss-
GRIN3A-
-
-
-
1Loss-
GRINA-
-
-
-
5Amp-
GRIP2-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GSC-
-
-
-
1Loss-
GSDMC-
-
-
-
5Amp-
GSDMD-
-
-
-
5Amp-
GSG1L2-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSN-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GSX1-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF3A-
-
-
-
1Loss-
GTF3C4-
-
-
-
1Loss-
GTF3C5-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
HABP4-
-
-
-
1Loss-
HACD4-
-
-
-
1Loss-
HACE1-
-
-
-
3Gain-
HACL1-
-
-
-
1Loss-
HAS2-
-
-
-
5Amp-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HDAC11-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD3-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HEMGN-
-
-
-
1Loss-
HEMK1-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEY1-
-
-
-
4Gain-
HGH1-
-
-
-
5Amp-
HGSNAT-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HHLA1-
-
-
-
5Amp-
HIC1-
-
-
-
1Loss-
HIF1A-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HMBOX1-
-
-
-
1Loss-
HMCN2-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGN3-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HNF4G-
-
-
-
4Gain-
HNRNPC-
-
-
-
1Loss-
HNRNPK-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRCT1-
-
-
-
1Loss-
HRH1-
-
-
-
1Loss-
HRH4-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD17B3-
-
-
-
1Loss-
HSDL2-
-
-
-
1Loss-
HSF1-
-
-
-
5Amp-
HSP90AA1-
-
-
-
1Loss-
HSPA2-
-
-
-
1Loss-
HSPA5-
-
-
-
1Loss-
HSPH1-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1B-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
IARS-
-
-
-
1Loss-
IBTK-
-
-
-
1Loss-
IDNK-
-
-
-
1Loss-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IER5L-
-
-
-
1Loss-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT43-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IFT88-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGFN1p.W819S
Missense
SNP
0.440
2--
IGHD-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IL11RA-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL25-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL7-
-
-
-
4Gain-
ILVBLp.R334W
Missense
SNP
0.489
2--
IMPA1-
-
-
-
4Gain-
IMPA2-
-
-
-
1Loss-
IMPACT-
-
-
-
1Loss-
IMPAD1-
-
-
-
4Gain-
IMPDH2-
-
-
-
1Loss-
IMPG1-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
INIP-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INPP5E-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
INTS8-
-
-
-
4Gain-
INTS9-
-
-
-
1Loss-
INVS-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPPK-
-
-
-
1Loss-
IQANK1-
-
-
-
5Amp-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQSEC1-
-
-
-
1Loss-
IRAK1BP1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRF2BPL-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
ISCA1-
-
-
-
1Loss-
ISCA2-
-
-
-
1Loss-
ISM2-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITPK1-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JDP2-
-
-
-
1Loss-
JKAMP-
-
-
-
1Loss-
JPH1-
-
-
-
4Gain-
JPH4-
-
-
-
1Loss-
JRK-
-
-
-
5Amp-
KANK1-
-
-
-
1Loss-
KANSL1-
-
-
-
2-ARL17A--KANSL1
KAT2B-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNB2-
-
-
-
4Gain-
KCNG2-
-
-
-
1Loss-
KCNH5-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNK10-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK9-
-
-
-
5Amp-
KCNQ3-
-
-
-
5Amp-
KCNQ5-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNS2-
-
-
-
4Gain-
KCNT1-
-
-
-
1Loss-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
4Gain-
KCNV2-
-
-
-
1Loss-
KCTD1-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDRBS3-
-
-
-
5Amp-
KHNYN-
-
-
-
1Loss-
KIAA0391-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1328-
-
-
-
1Loss-
KIAA1958-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF12-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF24-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF27-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFC2-
-
-
-
5Amp-
KL-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLF10-
-
-
-
4Gain-
KLF12-
-
-
-
1Loss-
KLF4-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF9-
-
-
-
1Loss-
KLHDC1-
-
-
-
1Loss-
KLHDC2-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL14-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL28-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL38-
-
-
-
5Amp-
KLHL40-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KPNA3-
-
-
-
1Loss-
KPNB1p.R88Q
Missense
SNP
0.443
2--
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KTN1-
-
-
-
1Loss-
KYAT1-
-
-
-
1Loss-
L2HGDH-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL4-
-
-
-
1Loss-
LACC1-
-
-
-
1Loss-
LACTB2-
-
-
-
4Gain-
LAMA1-
-
-
-
1Loss-
LAMA3-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMC3-
-
-
-
1Loss-
LAMP1-
-
-
-
1Loss-
LAPTM4B-
-
-
-
4Gain-
LARS2-
-
-
-
1Loss-
LATS2-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCN1-
-
-
-
1Loss-
LCN10-
-
-
-
1Loss-
LCN12-
-
-
-
1Loss-
LCN15-
-
-
-
1Loss-
LCN2-
-
-
-
1Loss-
LCN6-
-
-
-
1Loss-
LCN8-
-
-
-
1Loss-
LCN9-
-
-
-
1Loss-
LCNL1-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCTp.N1814K
Missense
SNP
0.450
2--
LDLRAD4-
-
-
-
1Loss-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LHX2-
-
-
-
1Loss-
LHX3-
-
-
-
1Loss-
LHX6-
-
-
-
1Loss-
LIG4-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LINC02203-
-
-
-
3Gain-
LINGO2-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LLGL1-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMBRD1-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMLN2-
-
-
-
1Loss-
LMNB2p.S544L
Missense
SNP
0.507
2--
LMO7-
-
-
-
1Loss-
LMX1B-
-
-
-
1Loss-
LNX2-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LPAR1-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LPIN2-
-
-
-
1Loss-
LPL-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP12-
-
-
-
4Gain-
LRR1-
-
-
-
1Loss-
LRRC14-
-
-
-
5Amp-
LRRC19-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
5Amp-
LRRC26-
-
-
-
1Loss-
LRRC30-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC6-
-
-
-
5Amp-
LRRC63-
-
-
-
1Loss-
LRRC69-
-
-
-
4Gain-
LRRC74A-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC8A-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LRRCC1-
-
-
-
4Gain-
LRRFIP2-
-
-
-
1Loss-
LRSAM1-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSM1-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LY6D-
-
-
-
5Amp-
LY6E-
-
-
-
5Amp-
LY6H-
-
-
-
5Amp-
LY6K-
-
-
-
5Amp-
LY6L-
-
-
-
5Amp-
LY96-
-
-
-
4Gain-
LYN-
-
-
-
4Gain-
LYNX1-
-
-
-
5Amp-
LYNX1-SLURP2-
-
-
-
5Amp-
LYPD2-
-
-
-
5Amp-
LYPLA1-
-
-
-
4Gain-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
MAB21L1-
-
-
-
1Loss-
MAF1-
-
-
-
5Amp-
MAFA-
-
-
-
5Amp-
MAGEF1p.L2F
Missense
SNP
0.297
2--
MAGEL2p.G960V
Missense
SNP
0.543
2--
MAGI1-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MAL2-
-
-
-
5Amp-
MALT1-
-
-
-
1Loss-
MAMDC2-
-
-
-
1Loss-
MAMDC4-
-
-
-
1Loss-
MAN1B1-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP3K5p.I799T
Missense
SNP
0.448
2--
MAP3K9-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K5-
-
-
-
1Loss-
MAPK15-
-
-
-
5Amp-
MAPK1IP1L-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPKAP1-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MARK3-
-
-
-
1Loss-
MATN2-
-
-
-
4Gain-
MAX-
-
-
-
1Loss-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC2R-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCM4-
-
-
-
4Gain-
MCMDC2-
-
-
-
4Gain-
MCPH1-
-
-
-
1Loss-
MDGA2-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MED11-
-
-
-
1Loss-
MED22-
-
-
-
1Loss-
MED27-
-
-
-
1Loss-
MED30-
-
-
-
5Amp-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEGF9-
-
-
-
1Loss-
MEI4-
-
-
-
1Loss-
MEIS2p.X164_splice
Splice_Site
SNP
0.457
2--
MELK-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL3-
-
-
-
1Loss-
METTL4-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFSD14B-
-
-
-
1Loss-
MFSD14C-
-
-
-
1Loss-
MFSD3-
-
-
-
5Amp-
MFSD6L-
-
-
-
1Loss-
MGAT2-
-
-
-
1Loss-
MIA2-
-
-
-
1Loss-
MIB1-
-
-
-
1Loss-
MICU2-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIGA2-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MIPOL1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLH1-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MMP14-
-
-
-
1Loss-
MMP16-
-
-
-
4Gain-
MNAT1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOK-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MORN5-
-
-
-
1Loss-
MOS-
-
-
-
4Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPPE1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MRAP2-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
5Amp-
MROH5-
-
-
-
5Amp-
MROH6-
-
-
-
5Amp-
MRPL13-
-
-
-
5Amp-
MRPL15-
-
-
-
4Gain-
MRPL41-
-
-
-
1Loss-
MRPL50-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPS2-
-
-
-
1Loss-
MRPS25-
-
-
-
1Loss-
MRPS28-
-
-
-
4Gain-
MRPS31-
-
-
-
1Loss-
MRRF-
-
-
-
1Loss-
MSANTD3-
-
-
-
1Loss-
MSANTD3-TMEFF1-
-
-
-
1Loss-
MSC-
-
-
-
4Gain-
MSMP-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1Rp.R1391Q
Missense
SNP
1.000
1Loss-
MTA1-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
5Amp-
MTCL1-
-
-
-
1Loss-
MTDH-
-
-
-
4Gain-
MTERF3-
-
-
-
4Gain-
MTFR1-
-
-
-
4Gain-
MTHFD1-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR14-
-
-
-
1Loss-
MTMR6-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTO1-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTSS1-
-
-
-
5Amp-
MTUS1-
-
-
-
1Loss-
MTUS2-
-
-
-
1Loss-
MUC4p.T4182P
Missense
SNP
0.692
2--
MUSK-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MVB12B-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
4Gain-
MYC-
-
-
-
5Amp-
MYCBP2-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYMK-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO16-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO6-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOM1-
-
-
-
1Loss-
MYOM2-
-
-
-
1Loss-
MYORG-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA30-
-
-
-
1Loss-
NAA35-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NACC2-
-
-
-
1Loss-
NAIF1-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NANS-
-
-
-
1Loss-
NAPG-
-
-
-
1Loss-
NAPRT-
-
-
-
5Amp-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAXD-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBN-
-
-
-
4Gain-
NCALD-
-
-
-
4Gain-
NCAPG2p.E602*
Nonsense
SNP
0.525
2--
NCBP1-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCOA2-
-
-
-
4Gain-
NCOR1-
-
-
-
1Loss-
NCS1-
-
-
-
1Loss-
NDC80-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDOR1-
-
-
-
1Loss-
NDRG1-
-
-
-
5Amp-
NDRG2-
-
-
-
1Loss-
NDUFA8-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF6-
-
-
-
4Gain-
NDUFB1-
-
-
-
1Loss-
NDUFB6-
-
-
-
1Loss-
NDUFB9-
-
-
-
5Amp-
NDUFV2-
-
-
-
1Loss-
NECAB1-
-
-
-
4Gain-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEGR1-
-
-
-
3Gain-
NEIL2-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEK6-
-
-
-
1Loss-
NEK9-
-
-
-
1Loss-
NELFB-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIL3-
-
-
-
1Loss-
NFKBIA-
-
-
-
1Loss-
NFX1-
-
-
-
1Loss-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NID2-
-
-
-
1Loss-
NIN-
-
-
-
1Loss-
NINJ1-
-
-
-
1Loss-
NIPAL2-
-
-
-
4Gain-
NIPSNAP3A-
-
-
-
1Loss-
NIPSNAP3B-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NKAIN3-
-
-
-
4Gain-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX2-1-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX2-8-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NMRK1-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL6-
-
-
-
1Loss-
NOL8-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOTCH1-
-
-
-
1Loss-
NOV-
-
-
-
5Amp-
NOVA1-
-
-
-
1Loss-
NOXA1-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAS3-
-
-
-
1Loss-
NPBWR1-
-
-
-
4Gain-
NPC1-
-
-
-
1Loss-
NPC2-
-
-
-
1Loss-
NPDC1-
-
-
-
1Loss-
NPHP4p.V47M
Missense
SNP
0.519
2--
NPM2-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR2C2-
-
-
-
1Loss-
NR4A3-
-
-
-
1Loss-
NR5A1-
-
-
-
1Loss-
NR6A1-
-
-
-
1Loss-
NRARP-
-
-
-
1Loss-
NRBP2-
-
-
-
5Amp-
NRDE2-
-
-
-
1Loss-
NRG1-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRXN3-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSMAF-
-
-
-
4Gain-
NSMCE2-
-
-
-
5Amp-
NSMF-
-
-
-
1Loss-
NSUN4-
-
-
-
2-NSUN4--UQCRH
NT5DC2-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTMT1-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTNG2-
-
-
-
1Loss-
NTRK2-
-
-
-
1Loss-
NUBPL-
-
-
-
1Loss-
NUDCD1-
-
-
-
4Gain-
NUDT14-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUMB-
-
-
-
1Loss-
NUP188-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP214-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUTM2F-
-
-
-
1Loss-
NUTM2G-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXNL2-
-
-
-
1Loss-
NYNRIN-
-
-
-
1Loss-
OBP2A-
-
-
-
1Loss-
OBP2B-
-
-
-
1Loss-
OC90-
-
-
-
5Amp-
ODF1-
-
-
-
4Gain-
ODF2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGFRL1-
-
-
-
1Loss-
OGG1-
-
-
-
1Loss-
OGN-
-
-
-
1Loss-
OLFM1-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML2A-
-
-
-
1Loss-
OMD-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OOEP-
-
-
-
1Loss-
OPLAH-
-
-
-
5Amp-
OPRK1-
-
-
-
4Gain-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR13C2-
-
-
-
1Loss-
OR13C3-
-
-
-
1Loss-
OR13C4-
-
-
-
1Loss-
OR13C5-
-
-
-
1Loss-
OR13C8-
-
-
-
1Loss-
OR13C9-
-
-
-
1Loss-
OR13D1-
-
-
-
1Loss-
OR13F1-
-
-
-
1Loss-
OR13J1-
-
-
-
1Loss-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1B1-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5p.A188E
Missense
SNP
0.495
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1J1-
-
-
-
1Loss-
OR1J2-
-
-
-
1Loss-
OR1J4-
-
-
-
1Loss-
OR1K1-
-
-
-
1Loss-
OR1L1-
-
-
-
1Loss-
OR1L3-
-
-
-
1Loss-
OR1L4-
-
-
-
1Loss-
OR1L6-
-
-
-
1Loss-
OR1L8-
-
-
-
1Loss-
OR1N1-
-
-
-
1Loss-
OR1N2-
-
-
-
1Loss-
OR1Q1-
-
-
-
1Loss-
OR2A1-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2K2-
-
-
-
1Loss-
OR2S2-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4E1-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4M2-
-
-
-
3Gain-
OR4N2-
-
-
-
1Loss-
OR4N4-
-
-
-
3Gain-
OR4N5-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5C1-
-
-
-
1Loss-
OR6J1-
-
-
-
1Loss-
OR6S1-
-
-
-
1Loss-
ORM1-
-
-
-
1Loss-
ORM2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSGIN2-
-
-
-
4Gain-
OSR2-
-
-
-
4Gain-
OSTF1-
-
-
-
1Loss-
OTOL1p.A225T
Missense
SNP
0.552
2--
OTUB2-
-
-
-
1Loss-
OTUD6B-
-
-
-
4Gain-
OTX2-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
4Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY10p.C60*
Nonsense
SNP
0.494
NDND-
P3H3p.P7S
Missense
SNP
0.471
2--
P4HTM-
-
-
-
1Loss-
PABPC1-
-
-
-
4Gain-
PABPC3-
-
-
-
1Loss-
PABPN1-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PAEP-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAG1-
-
-
-
4Gain-
PAK4p.H28N
Missense
SNP
0.444
2--
PALM2-
-
-
-
1Loss-
PALM2-AKAP2-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPPA-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARP10-
-
-
-
5Amp-
PARP2-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
1Loss-
PAX5-
-
-
-
1Loss-
PAX9-
-
-
-
1Loss-
PAXX-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX3-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCK2-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMTD1-
-
-
-
4Gain-
PCNX1-
-
-
-
1Loss-
PCNX4-
-
-
-
1Loss-
PCSK5-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD6IP-
-
-
-
1Loss-
PDCL-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE7A-
-
-
-
4Gain-
PDGFRL-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDP1-
-
-
-
4Gain-
PDS5B-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PEBP1p.D105N
Missense
SNP
0.521
2--
PEBP4-
-
-
-
1Loss-
PEG3p.P904A
Missense
SNP
0.450
2--
PELI2-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENK-
-
-
-
4Gain-
PER1-
-
-
-
1Loss-
PEX2-
-
-
-
4Gain-
PFAS-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PGF-
-
-
-
1Loss-
PGM3-
-
-
-
1Loss-
PGM5-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF19-
-
-
-
1Loss-
PHF2-
-
-
-
1Loss-
PHF20L1-
-
-
-
5Amp-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHPT1-
-
-
-
1Loss-
PHYHD1-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PI15-
-
-
-
4Gain-
PIAS2-
-
-
-
1Loss-
PIBF1-
-
-
-
1Loss-
PIEZO2-
-
-
-
1Loss-
PIGH-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PIP4P2-
-
-
-
4Gain-
PIP5K1B-
-
-
-
1Loss-
PIP5KL1-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PKHD1L1-
-
-
-
4Gain-
PKIA-
-
-
-
4Gain-
PKN3-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLAA-
-
-
-
1Loss-
PLAG1-
-
-
-
4Gain-
PLAT-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
5Amp-
PLEK2-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
4Gain-
PLEKHG3p.R33H
Missense
SNP
1.000
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLPBP-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPP7-
-
-
-
1Loss-
PLPPR1-
-
-
-
1Loss-
PLPPR3p.T282P
Missense
SNP
0.456
2--
PLSCR3-
-
-
-
1Loss-
PLXNB1-
-
-
-
1Loss-
PM20D2p.I418T
Missense
SNP
0.438
2--
PMAIP1-
-
-
-
1Loss-
PMP2-
-
-
-
4Gain-
PMP22-
-
-
-
1Loss-
PMPCA-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA7-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POLB-
-
-
-
1Loss-
POLE2-
-
-
-
1Loss-
POLE3-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLR1D-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2K-
-
-
-
4Gain-
POLR3D-
-
-
-
1Loss-
POM121L12-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
1Loss-
POMP-
-
-
-
1Loss-
POMT1-
-
-
-
1Loss-
POMT2-
-
-
-
1Loss-
POP1-
-
-
-
4Gain-
POSTN-
-
-
-
1Loss-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POTEC-
-
-
-
1Loss-
POTED-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
POU5F1B-
-
-
-
5Amp-
PP2D1-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPDPFL-
-
-
-
4Gain-
PPFIA4p.R886H
Missense
SNP
0.513
2--
PPM1A-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPP1R13B-
-
-
-
1Loss-
PPP1R16A-
-
-
-
5Amp-
PPP1R26-
-
-
-
1Loss-
PPP1R36-
-
-
-
1Loss-
PPP1R3B-
-
-
-
1Loss-
PPP1R3E-
-
-
-
1Loss-
PPP1R42-
-
-
-
4Gain-
PPP2CB-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R3C-
-
-
-
1Loss-
PPP2R5C-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP3R2-
-
-
-
1Loss-
PPP4R1-
-
-
-
1Loss-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP6C-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRDM12-
-
-
-
1Loss-
PRDM14-
-
-
-
4Gain-
PRELID3A-
-
-
-
1Loss-
PREX2-
-
-
-
4Gain-
PRICKLE2-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRKACG-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKD1-
-
-
-
1Loss-
PRKDC-
-
-
-
4Gain-
PRMT5-
-
-
-
1Loss-
PROSER1-
-
-
-
1Loss-
PROX2-
-
-
-
1Loss-
PROZ-
-
-
-
1Loss-
PRPF39-
-
-
-
1Loss-
PRPF4-
-
-
-
1Loss-
PRPF8-
-
-
-
1Loss-
PRPSAP2-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRRC2B-
-
-
-
1Loss-
PRRT1B-
-
-
-
1Loss-
PRRT3-
-
-
-
1Loss-
PRRX2-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS35-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRUNE2-
-
-
-
1Loss-
PRXL2C-
-
-
-
1Loss-
PSAT1-
-
-
-
1Loss-
PSCA-
-
-
-
5Amp-
PSD3-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSKH2-
-
-
-
4Gain-
PSMA3-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMA8-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMB6-
-
-
-
1Loss-
PSMB7-
-
-
-
1Loss-
PSMC1-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD5-
-
-
-
1Loss-
PSMD6-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSMG2-
-
-
-
1Loss-
PSPC1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAR1-
-
-
-
1Loss-
PTBP3-
-
-
-
1Loss-
PTCH1-
-
-
-
1Loss-
PTDSS1-
-
-
-
4Gain-
PTGDR-
-
-
-
1Loss-
PTGDS-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGES-
-
-
-
1Loss-
PTGES2-
-
-
-
1Loss-
PTGR1-
-
-
-
1Loss-
PTGR2-
-
-
-
1Loss-
PTGS1-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTK2-
-
-
-
5Amp-
PTK2B-
-
-
-
1Loss-
PTP4A3-
-
-
-
5Amp-
PTPA-
-
-
-
1Loss-
PTPDC1-
-
-
-
1Loss-
PTPN2-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN3-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRTp.M1122V
Missense
SNP
0.349
2--
PTRH1-
-
-
-
1Loss-
PUF60-
-
-
-
5Amp-
PUM3-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PXDNL-
-
-
-
4Gain-
PXK-
-
-
-
1Loss-
PYCR3-
-
-
-
5Amp-
PYGL-
-
-
-
1Loss-
PYGO2p.L383P
Missense
SNP
0.470
2--
QARS-
-
-
-
1Loss-
QRFP-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QSOX2-
-
-
-
1Loss-
R3HCC1-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB12-
-
-
-
1Loss-
RAB14-
-
-
-
1Loss-
RAB15-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB2A-
-
-
-
4Gain-
RAB2B-
-
-
-
1Loss-
RAB31-
-
-
-
1Loss-
RAB5A-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABEPK-
-
-
-
1Loss-
RABGAP1-
-
-
-
1Loss-
RABGGTA-
-
-
-
1Loss-
RABL6-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
5Amp-
RAD23B-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD54B-
-
-
-
4Gain-
RAD54L2-
-
-
-
1Loss-
RAF1-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RALBP1-
-
-
-
1Loss-
RALGAPA1-
-
-
-
1Loss-
RALGDS-
-
-
-
1Loss-
RALGPS1-
-
-
-
1Loss-
RALYL-
-
-
-
4Gain-
RANBP6-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAPGEF1-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASEF-
-
-
-
1Loss-
RASL11A-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RB1CC1-
-
-
-
4Gain-
RBBP8-
-
-
-
1Loss-
RBFA-
-
-
-
1Loss-
RBM12B-
-
-
-
4Gain-
RBM15B-
-
-
-
1Loss-
RBM18-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM25-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBPMS-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RC3H2-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCOR3p.L486F
Missense
SNP
0.468
2--
RCVRN-
-
-
-
1Loss-
RD3L-
-
-
-
1Loss-
RDH10-
-
-
-
4Gain-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECK-
-
-
-
1Loss-
RECQL4-
-
-
-
5Amp-
REEP4-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
REM2-
-
-
-
1Loss-
REXO4-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFK-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS20-
-
-
-
4Gain-
RGS22-
-
-
-
4Gain-
RGS3-
-
-
-
1Loss-
RGS6-
-
-
-
1Loss-
RHOA-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHPN1-
-
-
-
5Amp-
RIC1-
-
-
-
1Loss-
RIDA-
-
-
-
4Gain-
RILP-
-
-
-
1Loss-
RIMS1-
-
-
-
1Loss-
RIMS2-
-
-
-
4Gain-
RIN3-
-
-
-
1Loss-
RIOK3-
-
-
-
1Loss-
RIOX1-
-
-
-
1Loss-
RIPK2-
-
-
-
4Gain-
RIPK3-
-
-
-
1Loss-
RIPPLY2-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMC1-
-
-
-
1Loss-
RMDN1-
-
-
-
4Gain-
RMI1-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF139-
-
-
-
5Amp-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF17-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF183-
-
-
-
1Loss-
RNF19A-
-
-
-
4Gain-
RNF20-
-
-
-
1Loss-
RNF208-
-
-
-
1Loss-
RNF212B-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF224-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNF6-
-
-
-
1Loss-
RNMT-
-
-
-
1Loss-
ROCK1-
-
-
-
1Loss-
ROR2-
-
-
-
1Loss-
RORB-
-
-
-
1Loss-
RP1-
-
-
-
4Gain-
RP1L1-
-
-
-
1Loss-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL10L-
-
-
-
1Loss-
RPL12-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL30-
-
-
-
4Gain-
RPL32-
-
-
-
1Loss-
RPL35-
-
-
-
1Loss-
RPL36AL-
-
-
-
1Loss-
RPL7-
-
-
-
4Gain-
RPL7A-
-
-
-
1Loss-
RPL8-
-
-
-
5Amp-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPS20-
-
-
-
4Gain-
RPS29-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRM2B-
-
-
-
4Gain-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
4Gain-
RSPO2-
-
-
-
4Gain-
RTL1-
-
-
-
1Loss-
RTN1p.G435S
Missense
SNP
1.000
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUNX1T1-
-
-
-
4Gain-
RUSC2-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RXRA-
-
-
-
1Loss-
S1PR3-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD12-
-
-
-
5Amp-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAP18-
-
-
-
1Loss-
SAPCD2-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARDH-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SBSPON-
-
-
-
4Gain-
SCAI-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCFD1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCRIB-
-
-
-
5Amp-
SCRT1-
-
-
-
5Amp-
SCX-
-
-
-
5Amp-
SDC2-
-
-
-
4Gain-
SDCBP-
-
-
-
4Gain-
SDHAF4-
-
-
-
1Loss-
SDR16C5-
-
-
-
4Gain-
SDR39U1-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC16A-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23A-
-
-
-
1Loss-
SEC61B-
-
-
-
1Loss-
SECISBP2-
-
-
-
1Loss-
SEH1L-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4D-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP6-
-
-
-
1Loss-
SERP2-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTM1-
-
-
-
1Loss-
SET-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD3-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETDB2-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SETX-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFTA3-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGK3-
-
-
-
4Gain-
SGO1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SH2D3C-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GLB2-
-
-
-
1Loss-
SHARPIN-
-
-
-
5Amp-
SHB-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC3-
-
-
-
1Loss-
SHISA2-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIGMAR1-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
1Loss-
SKIV2Lp.R756*
Nonsense
SNP
0.508
2--
SKOR2-
-
-
-
1Loss-
SLA-
-
-
-
5Amp-
SLAIN1-
-
-
-
1Loss-
SLAIN2p.S195C
Missense
SNP
0.576
2--
SLC10A1-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A5-
-
-
-
4Gain-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC17A5-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A21-
-
-
-
1Loss-
SLC25A25-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A32-
-
-
-
4Gain-
SLC25A35-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
4Gain-
SLC27A4-
-
-
-
1Loss-
SLC28A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A6-
-
-
-
1Loss-
SLC2A8-
-
-
-
1Loss-
SLC30A8-
-
-
-
5Amp-
SLC31A1-
-
-
-
1Loss-
SLC31A2-
-
-
-
1Loss-
SLC34A3-
-
-
-
1Loss-
SLC35D2-
-
-
-
1Loss-
SLC35F4-
-
-
-
1Loss-
SLC35G4-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A4-
-
-
-
5Amp-
SLC39A6-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A1-
-
-
-
1Loss-
SLC45A4-
-
-
-
5Amp-
SLC46A2-
-
-
-
1Loss-
SLC46A3-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC4A1APp.S26T
p.Q122L
Missense
Missense
SNP
SNP
0.534
0.477
2--
SLC4A7-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
5Amp-
SLC5A10-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC7A1-
-
-
-
1Loss-
SLC7A13-
-
-
-
4Gain-
SLC7A2-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLCO5A1-
-
-
-
4Gain-
SLIRP-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLURP1-
-
-
-
5Amp-
SLURP2-
-
-
-
5Amp-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAP1-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMC2-
-
-
-
1Loss-
SMC5-
-
-
-
1Loss-
SMCHD1-
-
-
-
1Loss-
SMCR8-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM2p.A74T
Missense
SNP
1.000
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMOC1-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SNAI2-
-
-
-
4Gain-
SNAP91-
-
-
-
1Loss-
SNAPC1-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNAPC4-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNRPD1-
-
-
-
1Loss-
SNTB1-
-
-
-
5Amp-
SNTG1-
-
-
-
4Gain-
SNTN-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX10p.D185Y
Missense
SNP
0.442
2--
SNX14-
-
-
-
1Loss-
SNX16-
-
-
-
4Gain-
SNX29p.D774Y
Missense
SNP
0.524
2--
SNX30-
-
-
-
1Loss-
SNX31-
-
-
-
4Gain-
SNX6-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOHLH1-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
4Gain-
SOX21-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SPAAR-
-
-
-
1Loss-
SPACA7-
-
-
-
1Loss-
SPACA9-
-
-
-
1Loss-
SPAG1-
-
-
-
4Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA13-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA31E1-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATA7-
-
-
-
1Loss-
SPATC1-
-
-
-
5Amp-
SPCS1-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPIDR-
-
-
-
4Gain-
SPIN1-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPIRE1-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPOUT1-
-
-
-
1Loss-
SPRY2-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPTAN1-
-
-
-
1Loss-
SPTB-
-
-
-
1Loss-
SPTLC1-
-
-
-
1Loss-
SPTLC2-
-
-
-
1Loss-
SPTSSA-
-
-
-
1Loss-
SQLE-
-
-
-
5Amp-
SREBF1-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRP54-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRSF5-
-
-
-
1Loss-
SS18-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSNA1-
-
-
-
1Loss-
SSTR1-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
ST18-
-
-
-
4Gain-
ST3GAL1-
-
-
-
5Amp-
ST6GALNAC3p.T221N
Missense
SNP
0.508
2--
ST6GALNAC4-
-
-
-
1Loss-
ST6GALNAC6-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD13-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STAU2-
-
-
-
4Gain-
STC1-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK3-
-
-
-
4Gain-
STKLD1-
-
-
-
1Loss-
STMN2-
-
-
-
4Gain-
STMN4-
-
-
-
1Loss-
STOM-
-
-
-
1Loss-
STOML2-
-
-
-
1Loss-
STOML3-
-
-
-
1Loss-
STON2-
-
-
-
1Loss-
STPG3-
-
-
-
1Loss-
STRBP-
-
-
-
1Loss-
STRN3-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX17-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP1-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULF1-
-
-
-
4Gain-
SUPT16H-
-
-
-
1Loss-
SUPT20H-
-
-
-
1Loss-
SURF1-
-
-
-
1Loss-
SURF2-
-
-
-
1Loss-
SURF4-
-
-
-
1Loss-
SURF6-
-
-
-
1Loss-
SUSD1-
-
-
-
1Loss-
SUSD3-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SVEP1-
-
-
-
1Loss-
SWI5-
-
-
-
1Loss-
SYBU-
-
-
-
4Gain-
SYK-
-
-
-
1Loss-
SYN2-
-
-
-
1Loss-
SYNCRIP-
-
-
-
1Loss-
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYT16-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF1L-
-
-
-
1Loss-
TAF2-
-
-
-
5Amp-
TAF4B-
-
-
-
1Loss-
TAL2-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TATDN1-
-
-
-
5Amp-
TATDN2-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBC1D13-
-
-
-
1Loss-
TBC1D2-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D31-
-
-
-
5Amp-
TBC1D4-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBX18-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
4Gain-
TCEA3p.E100D
Missense
SNP
0.505
2--
TCF24-
-
-
-
4Gain-
TCF4-
-
-
-
1Loss-
TCIM-
-
-
-
1Loss-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDP1-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TDRD7-
-
-
-
1Loss-
TDRD9-
-
-
-
1Loss-
TDRP-
-
-
-
1Loss-
TECPR2-
-
-
-
1Loss-
TECTAp.X1917_splice
Splice_Site
SNP
0.519
2--
TEDC1-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TEP1-
-
-
-
1Loss-
TERF1-
-
-
-
4Gain-
TESK1-
-
-
-
1Loss-
TEX10-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX22-
-
-
-
1Loss-
TEX26-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX48-
-
-
-
1Loss-
TFDP1-
-
-
-
1Loss-
TG-
-
-
-
5Amp-
TGDS-
-
-
-
1Loss-
TGFB3-
-
-
-
1Loss-
TGFBR1-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGIF1-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TGS1-
-
-
-
4Gain-
THAP1-
-
-
-
1Loss-
THEM6-
-
-
-
5Amp-
THOC1-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THRAp.Q375H
Missense
SNP
0.493
2--
THRB-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THTPA-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIGD5-
-
-
-
5Amp-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM9-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TJP2-
-
-
-
1Loss-
TKFCp.X289_splice
Splice_Site
SNP
0.449
2--
TKT-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLE1-
-
-
-
1Loss-
TLE4-
-
-
-
1Loss-
TLN1-
-
-
-
1Loss-
TLR4-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMC1-
-
-
-
1Loss-
TMCO3-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMEFF1-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM132Ep.A330P
Missense
SNP
0.551
2--
TMEM141-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM200C-
-
-
-
1Loss-
TMEM203-
-
-
-
1Loss-
TMEM210-
-
-
-
1Loss-
TMEM215-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM229B-
-
-
-
1Loss-
TMEM241-
-
-
-
1Loss-
TMEM245-
-
-
-
1Loss-
TMEM246-
-
-
-
1Loss-
TMEM249-
-
-
-
5Amp-
TMEM250-
-
-
-
1Loss-
TMEM251-
-
-
-
1Loss-
TMEM252-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM268-
-
-
-
1Loss-
TMEM272-
-
-
-
1Loss-
TMEM30A-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM38B-
-
-
-
1Loss-
TMEM39Ap.K286E
Missense
SNP
0.451
2--
TMEM40-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM63C-
-
-
-
1Loss-
TMEM64-
-
-
-
4Gain-
TMEM65-
-
-
-
5Amp-
TMEM67-
-
-
-
4Gain-
TMEM68-
-
-
-
4Gain-
TMEM70-
-
-
-
4Gain-
TMEM71-
-
-
-
5Amp-
TMEM74-
-
-
-
4Gain-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMOD1-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMX1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNC-
-
-
-
1Loss-
TNFAIP2-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
5Amp-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF19-
-
-
-
1Loss-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF15-
-
-
-
1Loss-
TNFSF8-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOGARAM1-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM20L-
-
-
-
1Loss-
TOMM5-
-
-
-
1Loss-
TONSL-
-
-
-
5Amp-
TOP1MT-
-
-
-
5Amp-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPORS-
-
-
-
1Loss-
TOR1A-
-
-
-
1Loss-
TOR1B-
-
-
-
1Loss-
TOR2A-
-
-
-
1Loss-
TOR4A-
-
-
-
1Loss-
TOX-
-
-
-
4Gain-
TOX4-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53INP1-
-
-
-
4Gain-
TPBG-
-
-
-
1Loss-
TPD52-
-
-
-
4Gain-
TPD52L3-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPM2-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPPP2-
-
-
-
1Loss-
TPRN-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TRAF1-
-
-
-
1Loss-
TRAF2-
-
-
-
1Loss-
TRAF3-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
4Gain-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRAPPC9-
-
-
-
5Amp-
TRARG1-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRHR-
-
-
-
4Gain-
TRIB1-
-
-
-
5Amp-
TRIM13-
-
-
-
1Loss-
TRIM14-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM32-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM55-
-
-
-
4Gain-
TRIM71-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIP11-
-
-
-
1Loss-
TRIQK-
-
-
-
4Gain-
TRMO-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT12-
-
-
-
5Amp-
TRMT5-
-
-
-
1Loss-
TRMT61A-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRPA1-
-
-
-
4Gain-
TRPC4-
-
-
-
1Loss-
TRPM3-
-
-
-
1Loss-
TRPM6-
-
-
-
1Loss-
TRPS1-
-
-
-
5Amp-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRUB2-
-
-
-
1Loss-
TSC1-
-
-
-
1Loss-
TSC2p.H1543R
Missense
SNP
0.450
2--
TSC22D1-
-
-
-
1Loss-
TSEN2-
-
-
-
1Loss-
TSHR-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSNARE1-
-
-
-
5Amp-
TSPYL5-
-
-
-
4Gain-
TSR1-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSTA3-
-
-
-
5Amp-
TSTD2-
-
-
-
1Loss-
TTC16-
-
-
-
1Loss-
TTC17p.S728G
Missense
SNP
0.503
2--
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTF1-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTK-
-
-
-
1Loss-
TTLL11-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTPA-
-
-
-
4Gain-
TTR-
-
-
-
1Loss-
TUBA3C-
-
-
-
1Loss-
TUBA4Ap.I384M
Missense
SNP
0.538
2--
TUBB4B-
-
-
-
1Loss-
TUBB6-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TUT7-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXN-
-
-
-
1Loss-
TXNDC16-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNDC8-
-
-
-
1Loss-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD3p.Q292K
Missense
SNP
0.480
2--
TYMS-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
UAP1L1-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC1-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2L5-
-
-
-
1Loss-
UBE2R2-
-
-
-
1Loss-
UBE2V2-
-
-
-
4Gain-
UBE2W-
-
-
-
4Gain-
UBE3D-
-
-
-
1Loss-
UBL3-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
1Loss-
UBR5-
-
-
-
4Gain-
UBR7-
-
-
-
1Loss-
UBXN2B-
-
-
-
4Gain-
UBXN8-
-
-
-
1Loss-
UCHL3-
-
-
-
1Loss-
UCK1-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UGCG-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UNC13B-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UPF3A-
-
-
-
1Loss-
UQCRB-
-
-
-
4Gain-
UQCRC1-
-
-
-
1Loss-
UQCRH-
-
-
-
2-NSUN4--UQCRH
URAD-
-
-
-
1Loss-
URM1-
-
-
-
1Loss-
USP12-
-
-
-
1Loss-
USP14-
-
-
-
1Loss-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP20-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP6NLp.G729S
Missense
SNP
0.484
2--
USPL1-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP23-
-
-
-
5Amp-
VAMP2-
-
-
-
1Loss-
VAPA-
-
-
-
1Loss-
VASH1-
-
-
-
1Loss-
VAV2-
-
-
-
1Loss-
VCP-
-
-
-
1Loss-
VCPIP1-
-
-
-
4Gain-
VCPKMT-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHLp.S65P
Missense
SNP
1.000
1Loss-
VILL-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
4Gain-
VLDLR-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VPS13A-
-
-
-
1Loss-
VPS13B-
-
-
-
4Gain-
VPS16p.K660E
Missense
SNP
0.533
2--
VPS28-
-
-
-
5Amp-
VPS36-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSX2-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA8-
-
-
-
1Loss-
VXN-
-
-
-
4Gain-
WARS-
-
-
-
1Loss-
WASF3-
-
-
-
1Loss-
WASHC5-
-
-
-
5Amp-
WBP4-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR31-
-
-
-
1Loss-
WDR34-
-
-
-
1Loss-
WDR38-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR5-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR83p.R17P
Missense
SNP
0.471
2--
WDR89-
-
-
-
1Loss-
WDR97-
-
-
-
5Amp-
WDYHV1-
-
-
-
5Amp-
WHRN-
-
-
-
1Loss-
WISP1-
-
-
-
5Amp-
WNK2-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WWP1-
-
-
-
4Gain-
XAF1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XKR4-
-
-
-
4Gain-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR9-
-
-
-
4Gain-
XPA-
-
-
-
1Loss-
XPC-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XRCC3-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YES1-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YTHDF3-
-
-
-
4Gain-
YWHAE-
-
-
-
1Loss-
YWHAZ-
-
-
-
4Gain-
YY1-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBTB1-
-
-
-
1Loss-
ZBTB10-
-
-
-
4Gain-
ZBTB14-
-
-
-
1Loss-
ZBTB2-
-
-
-
1Loss-
ZBTB25-
-
-
-
1Loss-
ZBTB26-
-
-
-
1Loss-
ZBTB34-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB43-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB6-
-
-
-
1Loss-
ZBTB7Bp.A104T
Missense
SNP
0.483
2--
ZBTB7C-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
4Gain-
ZC2HC1C-
-
-
-
1Loss-
ZC3H11Ap.Q455E
Missense
SNP
0.343
2--
ZC3H13-
-
-
-
1Loss-
ZC3H14-
-
-
-
1Loss-
ZC3H3-
-
-
-
5Amp-
ZCCHC2-
-
-
-
1Loss-
ZCCHC7-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC12-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC20-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZER1-
-
-
-
1Loss-
ZFAND1-
-
-
-
4Gain-
ZFAND5-
-
-
-
1Loss-
ZFAT-
-
-
-
5Amp-
ZFHX2-
-
-
-
1Loss-
ZFHX4-
-
-
-
4Gain-
ZFP3-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP37-
-
-
-
1Loss-
ZFP41-
-
-
-
5Amp-
ZFPM2-
-
-
-
4Gain-
ZFYVE1-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZHX1-
-
-
-
5Amp-
ZHX1-C8orf76-
-
-
-
5Amp-
ZHX2-
-
-
-
5Amp-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
0Del-
ZMAT4-
-
-
-
1Loss-
ZMYM2-
-
-
-
1Loss-
ZMYM5-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZMYND19-
-
-
-
1Loss-
ZNF16-
-
-
-
5Amp-
ZNF169-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF189-
-
-
-
1Loss-
ZNF197-
-
-
-
0Del-
ZNF219-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF250-
-
-
-
5Amp-
ZNF251-
-
-
-
5Amp-
ZNF263p.L86S
Missense
SNP
0.476
2--
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF34-
-
-
-
5Amp-
ZNF35-
-
-
-
0Del-
ZNF367-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF462-
-
-
-
1Loss-
ZNF483-
-
-
-
1Loss-
ZNF484-
-
-
-
1Loss-
ZNF501-
-
-
-
0Del-
ZNF502-
-
-
-
0Del-
ZNF510-
-
-
-
1Loss-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
5Amp-
ZNF519-
-
-
-
1Loss-
ZNF521-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF572-
-
-
-
5Amp-
ZNF589-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF618-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF623-
-
-
-
5Amp-
ZNF624-
-
-
-
1Loss-
ZNF658-
-
-
-
1Loss-
ZNF660-
-
-
-
0Del-
ZNF662-
-
-
-
1Loss-
ZNF696-
-
-
-
5Amp-
ZNF7-
-
-
-
5Amp-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
4Gain-
ZNF706-
-
-
-
4Gain-
ZNF707-
-
-
-
5Amp-
ZNF782-
-
-
-
1Loss-
ZNF79-
-
-
-
1Loss-
ZNF83p.K290R
Missense
SNP
0.225
2--
ZNF839-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF883-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSWIM5p.L347P
Missense
SNP
0.508
2--
ZSWIM7-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-