WU-0075-T1-X1P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABCA13p.L3211F
Missense
SNP
0.475
2--
ABCA4-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB1p.Q1064H
Missense
SNP
0.443
2--
ABCC8-
-
-
-
1Loss-
ABCD3-
-
-
-
1Loss-
ABCG1-
-
-
-
1Loss-
ABCG2p.E7Q
Missense
SNP
0.479
2--
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABL1p.E607K
Missense
SNP
0.455
2--
ABR-
-
-
-
1Loss-
ABTB2-
-
-
-
1Loss-
AC002985.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011448.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011586.2-
-
-
-
NDNDAC011586.2--MSR1
AC015813.2-
-
-
-
1Loss-
AC016205.1-
-
-
-
NDNDLINC01901--AC016205.1
AC018523.2-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC025575.1-
-
-
-
NDNDAC123905.1--AC025575.1
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC074091.1-
-
-
-
NDNDAC074091.1--BABAM2
BABAM2--AC074091.1
AC084121.11-
-
-
-
1Loss-
AC084121.12-
-
-
-
1Loss-
AC084121.13-
-
-
-
1Loss-
AC084121.5-
-
-
-
1Loss-
AC084121.6-
-
-
-
1Loss-
AC084121.7-
-
-
-
1Loss-
AC084121.8-
-
-
-
1Loss-
AC084121.9-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC093155.3-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC093827.5-
-
-
-
3Gain-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC099518.3-
-
-
-
NDNDAC099518.3--RN7SL128P
AC104304.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC115220.1-
-
-
-
1Loss-
AC118549.1-
-
-
-
1Loss-
AC119396.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC123905.1-
-
-
-
NDNDAC123905.1--AC025575.1
AC126755.2-
-
-
-
3Gain-
AC129492.3-
-
-
-
1Loss-
AC134684.11-
-
-
-
1Loss-
AC134684.8-
-
-
-
1Loss-
AC134684.9-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
ACADM-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACKR2-
-
-
-
1Loss-
ACO1-
-
-
-
1Loss-
ACOT11-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSM1-
-
-
-
3Gain-
ACSM2A-
-
-
-
3Gain-
ACSM2B-
-
-
-
3Gain-
ACTBp.E125K
Missense
SNP
0.442
2--
ACTL9-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS1-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS5-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADARB1-
-
-
-
1Loss-
ADARB2p.R322C
Missense
SNP
0.503
2--
ADAT3-
-
-
-
1Loss-
ADCY8-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADGRL2-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADH4p.E252Q
Missense
SNP
0.506
2--
ADM-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFF1p.E715Q
Missense
SNP
0.685
3Gain-
AGBL2-
-
-
-
1Loss-
AGBL4-
-
-
-
1Loss-
AGPAT3-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AIM2p.E32K
Missense
SNP
0.515
2--
AIPL1-
-
-
-
1Loss-
AIRE-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK4-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AKAP6p.K490E
Missense
SNP
0.491
2--
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKR1A1-
-
-
-
1Loss-
AKT1p.E17K
Missense
SNP
0.579
2--
AL035078.4-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL139099.4-
-
-
-
NDNDAL139099.4--RN7SK
CRKL--AL139099.4
AL139300.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL357673.1-
-
-
-
1Loss-
AL358075.4-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL445685.3-
-
-
-
1Loss-
AL451062.3-
-
-
-
1Loss-
AL513165.2-
-
-
-
1Loss-
AL672043.1-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH7A1p.T67M
Missense
SNP
0.533
2--
ALG14-
-
-
-
1Loss-
ALG6-
-
-
-
1Loss-
ALKAL1-
-
-
-
1Loss-
ALKBH3-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
3Gain-
ALPI-
-
-
-
3Gain-
ALPP-
-
-
-
3Gain-
ALS2CL-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
AMBRA1p.E595K
Missense
SNP
1.000
1Loss-
AMH-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
ANGPT2-
-
-
-
1Loss-
ANGPTL2p.E77K
Missense
SNP
0.541
2--
ANGPTL3-
-
-
-
1Loss-
ANGPTL4-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
3Gain-
ANKHD1-EIF4EBP3-
-
-
-
3Gain-
ANKLE1-
-
-
-
1Loss-
ANKRD13C-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD20A2-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKS3-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO8-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
AP000275.2-
-
-
-
1Loss-
AP000295.1-
-
-
-
1Loss-
AP000311.1-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APEH-
-
-
-
1Loss-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APOPT1-
-
-
-
1Loss-
APP-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARFGAP2-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGEF10-
-
-
-
0Del-
ARHGEF15-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF35-
-
-
-
3Gain-
ARHGEF39-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARID1A-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL14EP-
-
-
-
1Loss-
ARL6IP5-
-
-
-
1Loss-
ARL8B-
-
-
-
3Gain-
ARMC6-
-
-
-
1Loss-
ARMH1-
-
-
-
1Loss-
ARNTL-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARTN-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASNA1-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASXL2p.E462K
Missense
SNP
0.500
2--
ATCAY-
-
-
-
1Loss-
ATG13-
-
-
-
1Loss-
ATG4C-
-
-
-
1Loss-
ATG4D-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B2p.V252M
Missense
SNP
0.523
2--
ATP5F1D-
-
-
-
1Loss-
ATP5PF-
-
-
-
1Loss-
ATP5PO-
-
-
-
1Loss-
ATP6V0B-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1H-
-
-
-
1Loss-
ATP8B3-
-
-
-
1Loss-
ATPAF1-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B3GALT5-
-
-
-
1Loss-
B3GNT3-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT2-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BABAM2-
-
-
-
1LossZNF512--BABAM2
AC074091.1--BABAM2
BABAM2--AC074091.1
BABAM2--ZNF512
BACE2-
-
-
-
1Loss-
BACH1-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARHL2-
-
-
-
1Loss-
BAZ2Bp.E1452Q
Missense
SNP
0.450
2--
BBOX1-
-
-
-
1Loss-
BBS9-
-
-
-
1Loss-
BCAR3-
-
-
-
1Loss-
BCL10-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BEND5-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BEST4-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BHLHE40-
-
-
-
3Gain-
BIN3-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRDT-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRIP1p.K940N
Missense
SNP
0.469
2--
BRSK2-
-
-
-
1Loss-
BRWD1-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSND-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD19-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD8-
-
-
-
1Loss-
BTF3L4-
-
-
-
1Loss-
BTG3-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C14orf159p.A438S
Missense
SNP
0.444
NDND-
C16orf71-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C17orf98-
-
-
-
1Loss-
C19orf12-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67p.W265L
Missense
SNP
1.000
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1orf122p.R50Q
Missense
SNP
0.490
2--
C1orf123-
-
-
-
1Loss-
C1orf141-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf185-
-
-
-
1Loss-
C1orf210-
-
-
-
1Loss-
C1orf52-
-
-
-
1Loss-
C1orf87-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QTNF4-
-
-
-
1Loss-
C20orf203-
-
-
-
1Loss-
C21orf58-
-
-
-
1Loss-
C21orf62-
-
-
-
1Loss-
C21orf91-
-
-
-
1Loss-
C2CD2-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C3-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf38-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70p.S6L
Missense
SNP
0.504
2--
C3orf84-
-
-
-
1Loss-
C4A-
-
-
-
3Gain-
C4B-
-
-
-
3Gain-
C4orf36-
-
-
-
3Gain-
C5orf60-
-
-
-
1Loss-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf86-
-
-
-
1Loss-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CACHD1-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA2D2p.E117Q
Missense
SNP
1.000
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CADM2-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CANX-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CAT-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERGp.S641*
Nonsense
SNP
0.485
2--
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBWD6-
-
-
-
1Loss-
CBY3-
-
-
-
1Loss-
CC2D1A-
-
-
-
1Loss-
CC2D1B-
-
-
-
1Loss-
CCAR1p.E325K
Missense
SNP
0.494
2--
CCAR2-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC121-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC129p.Q616P
Missense
SNP
0.451
NDND-
CCDC13-
-
-
-
1Loss-
CCDC130-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
3Gain-
CCDC151-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC17-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC18-
-
-
-
1Loss-
CCDC180p.V1650L
Missense
SNP
0.460
2--
CCDC194-
-
-
-
1Loss-
CCDC24-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC90Bp.R15K
Missense
SNP
0.468
2--
CCIN-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL25-
-
-
-
1Loss-
CCL27-
-
-
-
1Loss-
CCL3L1-
-
-
-
3Gain-
CCL4L2-
-
-
-
3Gain-
CCNE1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT8-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD209-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD302-
-
-
-
3Gain-
CD320-
-
-
-
1Loss-
CD44p.H432Y
Missense
SNP
1.000
1Loss-
CD59-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CDC20-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC7-
-
-
-
1Loss-
CDCA2-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDCP2-
-
-
-
1Loss-
CDH1-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK5RAP1-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2C-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
5Amp-
CDRT4-
-
-
-
1Loss-
CEBPD-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP170p.A50V
Missense
SNP
0.493
2--
CER1-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CFAP298-
-
-
-
1Loss-
CFAP410-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP57-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAF1B-
-
-
-
1Loss-
CHCHD6p.E214K
Missense
SNP
0.489
2--
CHD3-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP5-
-
-
-
1Loss-
CHMP7-
-
-
-
1Loss-
CHODL-
-
-
-
1Loss-
CHPF2p.V372L
Missense
SNP
0.552
2--
CHRM4-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CIB3-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLDN14-
-
-
-
1Loss-
CLDN17-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLIC6-
-
-
-
1Loss-
CLN8-
-
-
-
0Del-
CLPP-
-
-
-
1Loss-
CLPTM1p.E336Q
Missense
SNP
0.474
2--
CLTA-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CMPK1-
-
-
-
1Loss-
CMYA5p.D847Y
Missense
SNP
0.475
2--
CNGA4-
-
-
-
1Loss-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNN3-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA7-
-
-
-
1Loss-
COL18A1-
-
-
-
1Loss-
COL24A1-
-
-
-
1Loss-
COL5A3-
-
-
-
0Del-
COL6A1-
-
-
-
1Loss-
COL6A2-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COLGALT1-
-
-
-
1Loss-
COMMD7-
-
-
-
1Loss-
COMMD9-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPE-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
CPAMD8-
-
-
-
1Loss-
CPT2-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CREB3-
-
-
-
1Loss-
CREB3L1-
-
-
-
1Loss-
CREB3L3-
-
-
-
1Loss-
CREBBPp.Q598*
Nonsense
SNP
0.492
2--
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
2-CRKL--AL139099.4
CRKL--RN7SL1
CRLF1-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRY2-
-
-
-
1Loss-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBG3p.Q2876*
Nonsense
SNP
0.500
2--
CRYZ-
-
-
-
1Loss-
CRYZL1-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSMD1-
-
-
-
0Del-
CSNK1G2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSNKA2IP-
-
-
-
1Loss-
CSPG5p.A73G
Missense
SNP
1.000
1Loss-
CSRP3-
-
-
-
1Loss-
CSTB-
-
-
-
1Loss-
CSTF3-
-
-
-
1Loss-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTBS-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1p.D453H
Missense
SNP
0.518
2--
CTH-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTTNBP2p.D11N
Missense
SNP
0.480
2--
CTXN1-
-
-
-
1Loss-
CUEDC1-
-
-
-
1Loss-
CWC25-
-
-
-
1Loss-
CXADR-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5RL-
-
-
-
1Loss-
CYP2J2-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP4A11-
-
-
-
1Loss-
CYP4A22-
-
-
-
1Loss-
CYP4B1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP4X1-
-
-
-
1Loss-
CYP4Z1-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
CYR61-
-
-
-
1Loss-
CYYR1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAND5-
-
-
-
1Loss-
DAPK3-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF15-
-
-
-
1Loss-
DCDC1-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCTN3-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DDA1-
-
-
-
1Loss-
DDAH1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX58-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DEF8p.R399W
Missense
SNP
0.512
2--
DEFA1-
-
-
-
1Loss-
DEFA1B-
-
-
-
1Loss-
DEFA3-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB130A-
-
-
-
1Loss-
DEFB130B-
-
-
-
1Loss-
DEFB131A-
-
-
-
3Gain-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND4C-
-
-
-
1Loss-
DENND5A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPDC1-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DGCR14p.R175W
Missense
SNP
0.152
NDND-
DGKZ-
-
-
-
1Loss-
DHCR24-
-
-
-
1Loss-
DHPS-
-
-
-
1Loss-
DHRS7B-
-
-
-
3Gain-
DHRS7C-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX36p.R47Q
Missense
SNP
0.493
2--
DIO1-
-
-
-
1Loss-
DIP2A-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIRAS3-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP2-
-
-
-
0Del-
DMAC1-
-
-
-
1Loss-
DMAP1-
-
-
-
1Loss-
DMBX1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMRTA2-
-
-
-
1Loss-
DMRTB1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DNAAF2p.R254C
Missense
SNP
0.521
2--
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH2-
-
-
-
1Loss-
DNAH5p.R2545H
p.R1245H
Missense
Missense
SNP
SNP
0.473
0.377
2--
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB5-
-
-
-
1Loss-
DNAJC14p.S371F
Missense
SNP
0.495
2--
DNAJC24-
-
-
-
1Loss-
DNAJC28-
-
-
-
1Loss-
DNAJC6-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNASE2-
-
-
-
1Loss-
DNASE2B-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DNMT3L-
-
-
-
1Loss-
DNTTIP2-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK6-
-
-
-
1Loss-
DOCK7-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DONSON-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH2-
-
-
-
1Loss-
DPP9-
-
-
-
1Loss-
DPYD-
-
-
-
1Loss-
DPYSL2-
-
-
-
1Loss-
DR1-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRD5-
-
-
-
3Gain-
DSCAM-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUSP26-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYNLL2-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
E2F8-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBNA1BP2-
-
-
-
1Loss-
ECEL1-
-
-
-
3Gain-
ECHDC2-
-
-
-
1Loss-
ECSIT-
-
-
-
1Loss-
EDEM1-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EFCAB1-
-
-
-
1Loss-
EFCAB14-
-
-
-
1Loss-
EFCAB7-
-
-
-
1Loss-
EFCC1p.R134C
Missense
SNP
0.495
2--
EFNA2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EGFLAMp.Q407*
Nonsense
SNP
0.356
2--
EGR3-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EIF2B3-
-
-
-
1Loss-
EIF3C-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF5-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5AL1-
-
-
-
3Gain-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELAVL4-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELL-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELOVL1-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
ENHO-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EP300p.E360K
p.H828Y
Missense
Missense
SNP
SNP
0.471
0.479
2--
EPHA3-
-
-
-
1Loss-
EPHB1p.R368Q
Missense
SNP
0.425
2--
EPHX2-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPHX4-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPPK1-
-
-
-
3Gain-
EPS15-
-
-
-
1Loss-
EPS15L1p.S362L
Missense
SNP
1.000
1Loss-
EPS8L2-
-
-
-
1Loss-
EPX-
-
-
-
1Loss-
EQTN-
-
-
-
1Loss-
ERBB2p.R103Q
p.D277Y
Missense
Missense
SNP
SNP
0.579
0.537
2--
ERC2-
-
-
-
1Loss-
ERCC4p.E694*
Nonsense
SNP
0.455
2--
ERG-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERI3-
-
-
-
1Loss-
ERICH1-
-
-
-
0Del-
ERICH3-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ESCO2-
-
-
-
1Loss-
ETS2-
-
-
-
1Loss-
EVA1C-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EVI5L-
-
-
-
1Loss-
EVLp.E292K
Missense
SNP
0.538
2--
EXOC3L4-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOSC10p.E431K
Missense
SNP
0.517
2--
EXOSC3-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXT2-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
F2-
-
-
-
1Loss-
F2RL3-
-
-
-
1Loss-
F3-
-
-
-
1Loss-
FAAH-
-
-
-
1Loss-
FAAP24p.S158L
Missense
SNP
1.000
2--
FAF1-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM129C-
-
-
-
1Loss-
FAM132Ap.G65E
Missense
SNP
0.539
NDND-
FAM151A-
-
-
-
1Loss-
FAM155Ap.Q82R
Missense
SNP
0.172
2--
FAM159Bp.S128*
Nonsense
SNP
0.464
NDND-
FAM160A2-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM166B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM180B-
-
-
-
1Loss-
FAM183A-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM207A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM214B-
-
-
-
1Loss-
FAM219A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM243A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM49B-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM86B1-
-
-
-
1Loss-
FAM95C-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FAT3p.D1096H
Missense
SNP
0.522
2--
FBLN1p.D585N
Missense
SNP
0.483
2--
FBN3-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXO10-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO25-
-
-
-
0Del-
FBXO3-
-
-
-
1Loss-
FBXO38p.E20K
Missense
SNP
0.458
2--
FBXO39-
-
-
-
1Loss-
FBXO47-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCER2-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FDX2-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR3p.S249C
Missense
SNP
0.570
2--
FGL1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FIBIN-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP8-
-
-
-
1Loss-
FKBP9-
-
-
-
1Loss-
FLCN-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FNBP1L-
-
-
-
1Loss-
FNBP4-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FO393400.1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOXD2-
-
-
-
1Loss-
FOXD3-
-
-
-
1Loss-
FOXD4-
-
-
-
1Loss-
FOXD4L6-
-
-
-
1Loss-
FOXE3-
-
-
-
1Loss-
FOXK2p.R353M
Missense
SNP
0.459
2--
FOXP1-
-
-
-
1Loss-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FSD1-
-
-
-
1Loss-
FSHB-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FTCD-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABPA-
-
-
-
1Loss-
GADD45A-
-
-
-
1Loss-
GADD45B-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT5-
-
-
-
1Loss-
GALT-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GART-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATD3A-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GBA2-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBGT1-
-
-
-
1Loss-
GBP1-
-
-
-
1Loss-
GBP2-
-
-
-
1Loss-
GBP3-
-
-
-
1Loss-
GBP4-
-
-
-
1Loss-
GBP5-
-
-
-
1Loss-
GBP6-
-
-
-
1Loss-
GBP7-
-
-
-
1Loss-
GCDH-
-
-
-
1Loss-
GCLM-
-
-
-
1Loss-
GCN1-
-
-
-
1Loss-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GFI1-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GGT5p.R340P
Missense
SNP
0.503
2--
GGT6-
-
-
-
1Loss-
GIGYF2-
-
-
-
1Loss-
GIMAP6p.E297K
Missense
SNP
0.551
2--
GINS4-
-
-
-
1Loss-
GIPC1-
-
-
-
1Loss-
GIPC2-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLI1-
-
-
-
1Loss-
GLIPR2-
-
-
-
1Loss-
GLIS1-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLMN-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GLYR1-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA15-
-
-
-
1Loss-
GNAI2-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNE-
-
-
-
1Loss-
GNG12-
-
-
-
1Loss-
GNG5-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLPH3-
-
-
-
1Loss-
GOT1p.Q227E
Missense
SNP
0.518
2--
GOT1L1-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GPAT4-
-
-
-
1Loss-
GPATCH8-
-
-
-
1Loss-
GPBP1L1-
-
-
-
1Loss-
GPN1-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX7-
-
-
-
1Loss-
GRHPR-
-
-
-
1Loss-
GRIK1-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GSDMC-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GTF2B-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1FNTp.R16K
Missense
SNP
0.440
2--
H2BFS-
-
-
-
1Loss-
HACD4-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAPLN4-
-
-
-
1Loss-
HARBI1-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAT1-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HCN2-
-
-
-
1Loss-
HDGFL2-
-
-
-
1Loss-
HECTD3-
-
-
-
1Loss-
HECW1p.T605M
Missense
SNP
0.412
2--
HEMK1-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HGSNAT-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHLA3-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HIPK3-
-
-
-
1Loss-
HIST1H2ACp.K76N
Missense
SNP
0.439
2--
HLCS-
-
-
-
1Loss-
HMBOX1-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMGN1-
-
-
-
1Loss-
HNRNPA1p.V60I
Missense
SNP
0.497
2--
HNRNPH1-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOOK1-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HPDL-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRCT1-
-
-
-
1Loss-
HS2ST1-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD17B12-
-
-
-
1Loss-
HSF2BP-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSPA13-
-
-
-
1Loss-
HSPB11-
-
-
-
1Loss-
HTATIP2-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HUNK-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYDINp.E2293Q
Missense
SNP
0.442
2--
HYI-
-
-
-
1Loss-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
ICOSLG-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER2-
-
-
-
1Loss-
IFI30-
-
-
-
1Loss-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
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-
IFNAR1-
-
-
-
1Loss-
IFNAR2-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR2-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGSF22-
-
-
-
1Loss-
IGSF5-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IL10RB-
-
-
-
1Loss-
IL11RA-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL12RB2-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL23Rp.E494K
Missense
SNP
1.000
1Loss-
IL27RA-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
ILF3-
-
-
-
1Loss-
ILK-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL3-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2p.P235L
Missense
SNP
0.454
2--
INSR-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS5-
-
-
-
1Loss-
INTS9-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO13-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPP-
-
-
-
1Loss-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCN-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGB2-
-
-
-
1Loss-
ITGB3BP-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITPRIPL2-
-
-
-
2-ITPRIPL2--RN7SL128P
ITSN1-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JAK1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JAM2-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KALRNp.E1530Q
Missense
SNP
0.402
2--
KANK1-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KANK4-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KBTBD11-
-
-
-
0Del-
KBTBD11-OT1-
-
-
-
0Del-
KBTBD2-
-
-
-
1Loss-
KBTBD4-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNB2p.H486Y
Missense
SNP
0.413
2--
KCNC1-
-
-
-
1Loss-
KCNE1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE2-
-
-
-
1Loss-
KCNJ11-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNN1-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNU1-
-
-
-
1Loss-
KCNV2-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDM4A-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM6Ap.Q555*
Nonsense
SNP
1.000
NDND-
KDM6B-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1549L-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF24-
-
-
-
1Loss-
KIF2C-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF10p.Q105E
Missense
SNP
1.000
2--
KLF16-
-
-
-
1Loss-
KLF17-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL26-
-
-
-
1Loss-
KLHL40-
-
-
-
1Loss-
KLHL8-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KNCN-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRT33A-
-
-
-
3Gain-
KRT33B-
-
-
-
3Gain-
KRT34-
-
-
-
3Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT84p.E238*
Nonsense
SNP
0.552
2--
KRTAP1-1-
-
-
-
3Gain-
KRTAP1-3-
-
-
-
3Gain-
KRTAP1-4-
-
-
-
3Gain-
KRTAP1-5-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-12-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP11-1-
-
-
-
1Loss-
KRTAP12-1-
-
-
-
1Loss-
KRTAP12-2-
-
-
-
1Loss-
KRTAP12-3-
-
-
-
1Loss-
KRTAP12-4-
-
-
-
1Loss-
KRTAP13-1-
-
-
-
1Loss-
KRTAP13-2-
-
-
-
1Loss-
KRTAP13-3-
-
-
-
1Loss-
KRTAP13-4-
-
-
-
1Loss-
KRTAP15-1-
-
-
-
1Loss-
KRTAP16-1-
-
-
-
3Gain-
KRTAP17-1-
-
-
-
3Gain-
KRTAP19-1-
-
-
-
1Loss-
KRTAP19-2-
-
-
-
1Loss-
KRTAP19-3-
-
-
-
1Loss-
KRTAP19-4-
-
-
-
1Loss-
KRTAP19-5-
-
-
-
1Loss-
KRTAP19-6-
-
-
-
1Loss-
KRTAP19-7-
-
-
-
1Loss-
KRTAP19-8-
-
-
-
1Loss-
KRTAP2-2-
-
-
-
3Gain-
KRTAP20-1-
-
-
-
1Loss-
KRTAP20-2-
-
-
-
1Loss-
KRTAP20-3-
-
-
-
1Loss-
KRTAP21-1-
-
-
-
1Loss-
KRTAP21-2-
-
-
-
1Loss-
KRTAP21-3-
-
-
-
1Loss-
KRTAP22-1-
-
-
-
1Loss-
KRTAP22-2-
-
-
-
1Loss-
KRTAP23-1-
-
-
-
1Loss-
KRTAP24-1-
-
-
-
1Loss-
KRTAP25-1-
-
-
-
1Loss-
KRTAP26-1-
-
-
-
1Loss-
KRTAP27-1-
-
-
-
1Loss-
KRTAP29-1-
-
-
-
3Gain-
KRTAP3-1-
-
-
-
3Gain-
KRTAP3-2-
-
-
-
3Gain-
KRTAP3-3-
-
-
-
3Gain-
KRTAP4-1-
-
-
-
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-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP6-1-
-
-
-
1Loss-
KRTAP6-2-
-
-
-
1Loss-
KRTAP7-1-
-
-
-
1Loss-
KRTAP8-1-
-
-
-
1Loss-
KRTAP9-1-
-
-
-
3Gain-
KRTAP9-2-
-
-
-
3Gain-
KRTAP9-3-
-
-
-
3Gain-
KRTAP9-6-
-
-
-
3Gain-
KRTAP9-7-
-
-
-
3Gain-
KRTAP9-8-
-
-
-
3Gain-
KRTAP9-9-
-
-
-
3Gain-
KTI12-
-
-
-
1Loss-
KXD1-
-
-
-
1Loss-
KYAT3-
-
-
-
1Loss-
L1TD1-
-
-
-
1Loss-
LAMA2p.E648K
Missense
SNP
0.385
2--
LAMB2-
-
-
-
1Loss-
LAMC3p.S888F
Missense
SNP
0.444
2--
LARGE2-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LASP1-
-
-
-
1Loss-
LCA5L-
-
-
-
1Loss-
LCTp.R982Q
Missense
SNP
0.446
2--
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LDLRAD1-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LEPR-
-
-
-
1Loss-
LEPROT-
-
-
-
1Loss-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LEXM-
-
-
-
1Loss-
LGALS9B-
-
-
-
5Amp-
LGALS9C-
-
-
-
3Gain-
LGI3-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LHX8-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LINC01901-
-
-
-
NDNDLINC01901--AC016205.1
LINGO2-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LIPI-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMO4-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LONP1-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPAR3-
-
-
-
1Loss-
LPL-
-
-
-
1Loss-
LPO-
-
-
-
1Loss-
LRG1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRP4-
-
-
-
1Loss-
LRP8-
-
-
-
1Loss-
LRRC19-
-
-
-
1Loss-
LRRC2p.S11C
Missense
SNP
1.000
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC3-
-
-
-
1Loss-
LRRC36p.D493N
Missense
SNP
0.508
2--
LRRC40-
-
-
-
1Loss-
LRRC41-
-
-
-
1Loss-
LRRC42-
-
-
-
1Loss-
LRRC4C-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC7-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRIQ3-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSM1-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSS-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTN1-
-
-
-
1Loss-
LURAP1-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LY75-
-
-
-
3Gain-
LY75-CD302-
-
-
-
3Gain-
LYL1-
-
-
-
1Loss-
LYPLA1-
-
-
-
1Loss-
LYVE1-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAGEC1p.P194S
Missense
SNP
0.569
NDND-
MAGI1-
-
-
-
1Loss-
MAGOH-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K7-
-
-
-
1Loss-
MAP3K12p.S286L
Missense
SNP
0.462
2--
MAP3K7CL-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MARCH2-
-
-
-
1Loss-
MARK3-
-
-
-
1Loss-
MAST1-
-
-
-
1Loss-
MAST2-
-
-
-
1Loss-
MAST3-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCM3AP-
-
-
-
1Loss-
MCM4-
-
-
-
1Loss-
MCOLN1-
-
-
-
1Loss-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MDFICp.I205M
Missense
SNP
0.457
2--
MDK-
-
-
-
1Loss-
MED11-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED8-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEGF6p.E288K
Missense
SNP
0.446
2--
MELK-
-
-
-
1Loss-
MEN1p.Q541*
Nonsense
SNP
0.489
2--
METAP1D-
-
-
-
1Loss-
METTL15-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MIB1p.R1001G
Missense
SNP
0.435
2--
MICAL2-
-
-
-
1Loss-
MICAL3p.S1214L
Missense
SNP
0.476
2--
MICU3-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER1-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIGA1-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKNK1-
-
-
-
1Loss-
MKNK2-
-
-
-
1Loss-
MKS1-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT10p.D379N
Missense
SNP
0.443
2--
MLLT3-
-
-
-
1Loss-
MMACHC-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMP9p.G408D
Missense
SNP
0.501
2--
MN1p.S798L
Missense
SNP
0.500
2--
MNT-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOB3C-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MORC3-
-
-
-
1Loss-
MORN1p.T200I
Missense
SNP
0.422
2--
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPL-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPO-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MRAP-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MROH7-
-
-
-
1Loss-
MROH7-TTC4-
-
-
-
1Loss-
MRPL15-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL33-
-
-
-
1Loss-
MRPL34-
-
-
-
1Loss-
MRPL37-
-
-
-
1Loss-
MRPL39-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPS6-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSMP-
-
-
-
1Loss-
MSR1-
-
-
-
1LossAC011586.2--MSR1
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTCH2-
-
-
-
1Loss-
MTCL1p.D12N
Missense
SNP
1.000
1Loss-
MTF2-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTUS1-
-
-
-
1Loss-
MUC15-
-
-
-
1Loss-
MUC16-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MUTYH-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MX1-
-
-
-
1Loss-
MX2-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBPC3-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1F-
-
-
-
1Loss-
MYO5Ap.Q1608*
Nonsense
SNP
0.375
2--
MYO9B-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOD1-
-
-
-
1Loss-
MYOM1p.R500*
Nonsense
SNP
0.471
2--
MYOM2-
-
-
-
0Del-
MYORG-
-
-
-
1Loss-
N6AMT1-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NACC1-
-
-
-
1Loss-
NAGPA-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NASP-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT10-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NATD1-
-
-
-
3GainTOM1L2--NATD1
NAV2-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NCAM2-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NDC1-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFB4p.R57Q
Missense
SNP
0.470
2--
NDUFB6-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFS3-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NDUFV3-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEGR1-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NELL1p.E770K
Missense
SNP
1.000
1Loss-
NEURL4-
-
-
-
1Loss-
NEXN-
-
-
-
1Loss-
NF1p.Q1235*
Nonsense
SNP
0.296
2--
NFIA-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFX1-
-
-
-
1Loss-
NHLRC4-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NKTRp.S29L
Missense
SNP
1.000
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRC3-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP14-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NMRK2-
-
-
-
1Loss-
NOL6-
-
-
-
1Loss-
NOMO1-
-
-
-
3Gain-
NOMO2-
-
-
-
3Gain-
NOMO3-
-
-
-
3Gain-
NOTCH3-
-
-
-
1Loss-
NPBWR1-
-
-
-
1Loss-
NPIPA1-
-
-
-
3Gain-
NPIPA2-
-
-
-
3Gain-
NPIPA3-
-
-
-
3Gain-
NPIPA8-
-
-
-
3Gain-
NPIPB8-
-
-
-
3Gain-
NPIPB9-
-
-
-
3Gain-
NPM2-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NRDC-
-
-
-
1Loss-
NRG1-
-
-
-
1Loss-
NRIP1-
-
-
-
1Loss-
NRIP3-
-
-
-
1Loss-
NRTN-
-
-
-
1Loss-
NRXN2p.S162W
Missense
SNP
0.515
2--
NSD3-
-
-
-
1Loss-
NSUN4-
-
-
-
1Loss-
NT5C3A-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTAN1-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUDT16p.E118K
Missense
SNP
0.471
2--
NUDT16L1-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUP160-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUTM2B-
-
-
-
3Gain-
NUTM2E-
-
-
-
3Gain-
NWD1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OBP2B-
-
-
-
1Loss-
OCEL1-
-
-
-
1Loss-
ODF2L-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OLFM2-
-
-
-
0Del-
OLFML1-
-
-
-
1Loss-
OLIG1-
-
-
-
1Loss-
OLIG2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OPRK1-
-
-
-
1Loss-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR13J1-
-
-
-
1Loss-
OR14A16p.A297T
Missense
SNP
0.432
2--
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR2A1-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2B11p.A259V
Missense
SNP
0.076
2--
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2S2-
-
-
-
1Loss-
OR2Z1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4D1-
-
-
-
1Loss-
OR4D2-
-
-
-
1Loss-
OR4F16-
-
-
-
3Gain-
OR4F17-
-
-
-
1Loss-
OR4F21-
-
-
-
0Del-
OR4F29-
-
-
-
3Gain-
OR4F5-
-
-
-
3Gain-
OR4S1-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
ORC1-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSBPL9-
-
-
-
1Loss-
OTOG-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY11-
-
-
-
1Loss-
P2RY6p.V155*
Frame_Shift_Del
DEL
0.485
2--
P4HTM-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARS2-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PATJ-
-
-
-
1Loss-
PAX5-
-
-
-
1Loss-
PAX6-
-
-
-
1Loss-
PAXBP1-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX4-
-
-
-
1Loss-
PCp.S1009L
Missense
SNP
0.465
2--
PCBP3-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCDHB8p.D510N
Missense
SNP
0.506
2--
PCF11p.E580K
Missense
SNP
0.625
2--
PCM1-
-
-
-
1Loss-
PCMTD1-
-
-
-
1Loss-
PCNT-
-
-
-
1Loss-
PCP2-
-
-
-
1Loss-
PCP4-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK9-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDE11Ap.R306Q
Missense
SNP
0.513
2--
PDE12-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4A-
-
-
-
1Loss-
PDE4B-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE9A-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDXDC1-
-
-
-
1Loss-
PDXK-
-
-
-
1Loss-
PDZD2-
-
-
-
1Loss-
PDZK1IP1-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PDZRN4p.D644G
Missense
SNP
0.521
2--
PEAK3-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PET100-
-
-
-
1Loss-
PEX11G-
-
-
-
1Loss-
PEX16-
-
-
-
1Loss-
PEX6p.R161C
Missense
SNP
0.502
2--
PFAS-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFKL-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP2p.D184N
Missense
SNP
1.000
1Loss-
PGM1-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PHF21A-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDA3p.R115W
Missense
SNP
0.506
2--
PHRF1-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIGP-
-
-
-
1Loss-
PIGQ-
-
-
-
1Loss-
PIGV-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R3-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
0Del-
PINX1-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PKD1P1-
-
-
-
3Gain-
PKN1-
-
-
-
1Loss-
PKN2-
-
-
-
1Loss-
PKNOX1-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLAA-
-
-
-
1Loss-
PLAT-
-
-
-
1Loss-
PLCZ1p.L87V
Missense
SNP
0.460
2--
PLD2-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA5-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHF1-
-
-
-
1Loss-
PLEKHH3p.Q184H
Missense
SNP
0.497
2--
PLEKHJ1-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK3-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLOD2-
-
-
-
1Loss-
PLPBP-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLSCR1-
-
-
-
1Loss-
PLSCR2-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
1Loss-
PLSCR5-
-
-
-
1Loss-
PLVAP-
-
-
-
1Loss-
PLXDC1-
-
-
-
1Loss-
PLXNB1-
-
-
-
1Loss-
PLXNB3p.Q1168*
Nonsense
SNP
1.000
NDND-
PMP22-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
PODN-
-
-
-
1Loss-
PODNL1-
-
-
-
1Loss-
POFUT2-
-
-
-
1Loss-
POLB-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2L-
-
-
-
1Loss-
POLR3D-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POMGNT1-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
1Loss-
POP4-
-
-
-
1Loss-
POTED-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPDPFL-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPL-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPP1R3B-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R5Ep.L93F
Missense
SNP
0.447
2--
PPP3CC-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRDM11-
-
-
-
1Loss-
PRDM15p.E613K
p.R114W
Missense
Missense
SNP
SNP
0.302
1.000
1Loss-
PRDX1-
-
-
-
1Loss-
PRDX2-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRKACA-
-
-
-
1Loss-
PRKACB-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCSH-
-
-
-
1Loss-
PRKD2p.S206L
Missense
SNP
1.000
2--
PRKDC-
-
-
-
1Loss-
PRMT3-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PRPF38A-
-
-
-
1Loss-
PRPF8-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR34p.R92G
Missense
SNP
0.501
2--
PRR35-
-
-
-
1Loss-
PRR36-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRRG4-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSMA1-
-
-
-
1Loss-
PSMB6-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMC4p.E35K
Missense
SNP
1.000
2--
PSMD13-
-
-
-
1Loss-
PSMD6-
-
-
-
1Loss-
PSMG1-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTBP2-
-
-
-
1Loss-
PTCH2-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGER3-
-
-
-
1Loss-
PTGFR-
-
-
-
1Loss-
PTH-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTK2B-
-
-
-
1Loss-
PTPMT1-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN5-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRF-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRS-
-
-
-
1Loss-
PTTG1IP-
-
-
-
1Loss-
PUM3-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PWP2-
-
-
-
1Loss-
PXDNL-
-
-
-
1Loss-
PXK-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QSER1-
-
-
-
1Loss-
QTRT1-
-
-
-
1Loss-
R3HCC1-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3B-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB40C-
-
-
-
1Loss-
RAB8A-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABGGTB-
-
-
-
1Loss-
RAD23A-
-
-
-
1Loss-
RAD54L-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAPSN-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAVER2-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1CC1-
-
-
-
1Loss-
RBKS-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM48p.R334W
Missense
SNP
0.394
2--
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMXL1-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBPMS-
-
-
-
1Loss-
RCAN1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH8-
-
-
-
0Del-
RECK-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFXANK-
-
-
-
1Loss-
RGL3-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGS20-
-
-
-
1Loss-
RHOA-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RILP-
-
-
-
1Loss-
RIMS2p.S701F
Missense
SNP
0.396
2--
RIPK4-
-
-
-
1Loss-
RIPPLY3-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RN7SK-
-
-
-
NDNDAL139099.4--RN7SK
RN7SL1--RN7SK
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP62-
-
-
-
NDNDRN7SKP80--RN7SKP62
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP80-
-
-
-
NDNDRN7SKP80--ZNF277
RN7SKP80--RN7SKP62
RN7SL1-
-
-
-
NDNDRN7SL1--RN7SK
CRKL--RN7SL1
RN7SL128P-
-
-
-
NDNDAC099518.3--RN7SL128P
ITPRIPL2--RN7SL128P
RNASEH2A-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNF11-
-
-
-
1Loss-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF220-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROGDI-
-
-
-
1Loss-
ROR1-
-
-
-
1Loss-
RP1L1p.P2253S
Missense
SNP
1.000
1Loss-
RP9-
-
-
-
1Loss-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPAP2-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPGRIP1p.E1170K
Missense
SNP
0.509
2--
RPH3AL-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL23-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL36-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPLP0-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS28-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA1-
-
-
-
1Loss-
RPS8-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRP1-
-
-
-
1Loss-
RRP1B-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RSPH1-
-
-
-
1Loss-
RTBDN-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RUNX1-
-
-
-
1Loss-
RUSC2-
-
-
-
1Loss-
RWDD2B-
-
-
-
1Loss-
RWDD3-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYR3p.W660*
Nonsense
SNP
0.476
2--
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD13-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAF11p.H61D
Missense
SNP
0.459
2--
SCAF4-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCP2-
-
-
-
1Loss-
SCT-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SEC14L5-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SELENOF-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA6B-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERPINA6p.R282L
Missense
SNP
0.514
2--
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SETD1Bp.L869R
Missense
SNP
0.532
2--
SETD2-
-
-
-
1Loss-
SETD4-
-
-
-
1Loss-
SETSIP-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFTPA1-
-
-
-
3Gain-
SFTPA2-
-
-
-
3Gain-
SFTPC-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGIP1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SH2D3A-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH3BGR-
-
-
-
1Loss-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GLB1-
-
-
-
1Loss-
SHB-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC2-
-
-
-
1Loss-
SHD-
-
-
-
1Loss-
SHEp.E482K
Missense
SNP
0.487
2--
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISAL2A-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGMAR1-
-
-
-
1Loss-
SIK1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIM2-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SIX5p.G310S
Missense
SNP
1.000
2--
SLC10A6-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC17A6-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC19A1-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC1A2-
-
-
-
1Loss-
SLC1A6-
-
-
-
1Loss-
SLC1A7-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC27A1-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A9-
-
-
-
3Gain-
SLC35C1-
-
-
-
1Loss-
SLC35D1-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC37A1-
-
-
-
1Loss-
SLC38A10p.S545L
p.L542V
Missense
Missense
SNP
SNP
0.423
0.447
2--
SLC38A3-
-
-
-
1Loss-
SLC39A13-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC44A3-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC4A1AP-
-
-
-
1Loss-
SLC4A4p.K54N
Missense
SNP
0.414
2--
SLC52A1-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A3-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC5A9-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC6A9-
-
-
-
1Loss-
SLC7A14p.M229I
Missense
SNP
0.384
2--
SLC7A2-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMIM11A-
-
-
-
1Loss-
SMIM11B-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SNAI2-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNTA1-
-
-
-
1Loss-
SNTG1-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SOD1-
-
-
-
1Loss-
SON-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG16-
-
-
-
0Del-
SPAG17p.R1410I
Missense
SNP
0.466
2--
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA18p.R514L
Missense
SNP
0.455
2--
SPATA22-
-
-
-
1Loss-
SPATA31A1-
-
-
-
1Loss-
SPATA31A5-
-
-
-
1Loss-
SPATA31A6-
-
-
-
1Loss-
SPATA31A7-
-
-
-
1Loss-
SPATA6-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATC1L-
-
-
-
1Loss-
SPC24-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPI1-
-
-
-
1Loss-
SPIDR-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SRA1-
-
-
-
3Gain-
SRR-
-
-
-
1Loss-
SRSF1-
-
-
-
1Loss-
SRSF11-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
SSBP3-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSX2IP-
-
-
-
1Loss-
ST18-
-
-
-
1Loss-
ST3GAL3-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAG2p.E675K
Missense
SNP
1.000
NDND-
STAP2-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STIL-
-
-
-
1Loss-
STIM1-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STMN4-
-
-
-
1Loss-
STOML2-
-
-
-
1Loss-
STRN3p.E617K
Missense
SNP
0.430
2--
STX10-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP5Lp.E352K
Missense
SNP
0.464
2--
SUCLG2-
-
-
-
1Loss-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SULT1A1-
-
-
-
3Gain-
SULT1A2-
-
-
-
3Gain-
SUMO3-
-
-
-
1Loss-
SUPT7L-
-
-
-
1Loss-
SVIP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYNJ1-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYT13-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SZT2-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF1L-
-
-
-
1Loss-
TAL1-
-
-
-
1Loss-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
3Gain-
TBC1D3-
-
-
-
3Gain-
TBC1D3B-
-
-
-
3Gain-
TBC1D3C-
-
-
-
3Gain-
TBC1D3D-
-
-
-
3Gain-
TBC1D3E-
-
-
-
3Gain-
TBC1D3F-
-
-
-
3Gain-
TBC1D3G-
-
-
-
3Gain-
TBC1D3H-
-
-
-
3Gain-
TBC1D3I-
-
-
-
3Gain-
TBC1D3L-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
1Loss-
TCEANC2-
-
-
-
1Loss-
TCF20p.S161C
Missense
SNP
0.444
2--
TCF3-
-
-
-
1Loss-
TCIM-
-
-
-
1Loss-
TCP10L-
-
-
-
1Loss-
TCP11L1-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TCTEX1D4-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDRP-
-
-
-
0Del-
TEAD1-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TESK1-
-
-
-
1Loss-
TESK2-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX38-
-
-
-
1Loss-
TEX45-
-
-
-
1Loss-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TGFB2p.E90K
Missense
SNP
0.479
2--
TGFBR3-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP1-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
TIAM1-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TIE1-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLN1-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TM2D1-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMED5-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
3Gain-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM125-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM215-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM38A-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM50B-
-
-
-
1Loss-
TMEM53-
-
-
-
1Loss-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM59-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM61-
-
-
-
1Loss-
TMEM69-
-
-
-
1Loss-
TMEM80-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMPRSS15-
-
-
-
1Loss-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS9-
-
-
-
1Loss-
TNFAIP2-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNI3K-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNPO2-
-
-
-
1Loss-
TOE1-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOM1L2-
-
-
-
2-TOM1L2--NATD1
TOMM5-
-
-
-
1Loss-
TOMM70p.S153F
Missense
SNP
0.440
2--
TOPAZ1p.R85C
Missense
SNP
0.344
1Loss-
TOPORS-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53I11-
-
-
-
1Loss-
TP53TG3-
-
-
-
3Gain-
TP53TG3B-
-
-
-
3Gain-
TP53TG3C-
-
-
-
3Gain-
TP53TG3D-
-
-
-
3Gain-
TP53TG3E-
-
-
-
3Gain-
TP53TG3F-
-
-
-
3Gain-
TPD52L3-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPM2-
-
-
-
1Loss-
TPM4-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TRABD2B-
-
-
-
1Loss-
TRAF3IP2p.S108F
Missense
SNP
0.497
2--
TRAF6-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRHp.E38D
Missense
SNP
0.494
2--
TRILp.R397Q
Missense
SNP
0.514
2--
TRIM16-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM44-
-
-
-
1Loss-
TRIM49B-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM60p.R390P
Missense
SNP
0.082
2--
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRIR-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT61A-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRPM2-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TSG101-
-
-
-
1Loss-
TSHB-
-
-
-
1Loss-
TSPAN1-
-
-
-
1Loss-
TSPAN16-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN2-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPEAR-
-
-
-
1Loss-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TTC17-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC22-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC39A-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC4-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTLL7-
-
-
-
1Loss-
TTNp.H25065Y
p.E18730Q
Missense
Missense
SNP
SNP
0.454
0.478
2--
TTYH1p.G359E
Missense
SNP
0.441
2--
TUB-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TUT4-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TXNDC12-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TYK2-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
TYW3-
-
-
-
1Loss-
U2AF1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBASH3A-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
1Loss-
UBE2R2-
-
-
-
1Loss-
UBE2U-
-
-
-
1Loss-
UBE2V2-
-
-
-
1Loss-
UBL5-
-
-
-
0Del-
UBN1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UGT1A1-
-
-
-
3Gain-
UGT1A10-
-
-
-
3Gain-
UGT1A3-
-
-
-
3Gain-
UGT1A4p.S111F
Missense
SNP
0.480
3Gain-
UGT1A5-
-
-
-
3Gain-
UGT1A6-
-
-
-
3Gain-
UGT1A7-
-
-
-
3Gain-
UGT1A8-
-
-
-
3Gain-
UGT1A9-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMODL1-
-
-
-
1Loss-
UNC13A-
-
-
-
1Loss-
UNC13B-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRFS1-
-
-
-
1Loss-
UQCRH-
-
-
-
1Loss-
URB1-
-
-
-
1Loss-
URI1-
-
-
-
1Loss-
UROD-
-
-
-
1Loss-
USE1-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USHBP1-
-
-
-
1Loss-
USP1-
-
-
-
1Loss-
USP16-
-
-
-
1Loss-
USP17L1-
-
-
-
1Loss-
USP17L11-
-
-
-
3Gain-
USP17L12-
-
-
-
3Gain-
USP17L13-
-
-
-
3Gain-
USP17L15-
-
-
-
3Gain-
USP17L17-
-
-
-
3Gain-
USP17L18-
-
-
-
3Gain-
USP17L19-
-
-
-
3Gain-
USP17L2-
-
-
-
1Loss-
USP17L20-
-
-
-
3Gain-
USP17L21-
-
-
-
3Gain-
USP17L22-
-
-
-
3Gain-
USP17L23-
-
-
-
3Gain-
USP17L24-
-
-
-
3Gain-
USP17L25-
-
-
-
3Gain-
USP17L26-
-
-
-
3Gain-
USP17L27-
-
-
-
3Gain-
USP17L28-
-
-
-
3Gain-
USP17L29-
-
-
-
3Gain-
USP17L3-
-
-
-
1Loss-
USP17L30-
-
-
-
3Gain-
USP17L4-
-
-
-
1Loss-
USP17L5-
-
-
-
3Gain-
USP17L7-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP22-
-
-
-
3Gain-
USP24-
-
-
-
1Loss-
USP25-
-
-
-
1Loss-
USP33-
-
-
-
1Loss-
USP34p.Q407E
Missense
SNP
0.508
2--
USP4-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
UTS2p.L117V
Missense
SNP
0.456
2--
UTYp.S514*
Nonsense
SNP
1.000
NDND-
VAMP2-
-
-
-
1Loss-
VAV1-
-
-
-
1Loss-
VCP-
-
-
-
1Loss-
VCPIP1p.D624N
Missense
SNP
0.442
2--
VDAC3-
-
-
-
1Loss-
VEZF1-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VLDLR-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VPS26C-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VSTM2B-
-
-
-
1Loss-
WASHC1-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR33p.E1033Q
Missense
SNP
0.519
2--
WDR4-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR63-
-
-
-
1Loss-
WDR78-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WEE1-
-
-
-
1Loss-
WIZ-
-
-
-
1Loss-
WLS-
-
-
-
1Loss-
WNK1p.L2025V
Missense
SNP
0.526
2--
WNT1p.E204K
Missense
SNP
0.423
2--
WNT5A-
-
-
-
1Loss-
WNT9Bp.E233Q
Missense
SNP
0.439
2--
WRAP53-
-
-
-
1Loss-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WT1-
-
-
-
1Loss-
XAB2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XYLT1-
-
-
-
3Gain-
YBEY-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YIPF1-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YWHAE-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZBED5-
-
-
-
1Loss-
ZBTB21-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZCCHC24p.S5W
Missense
SNP
0.463
3Gain-
ZCCHC7-
-
-
-
1Loss-
ZDHHC13-
-
-
-
1Loss-
ZDHHC18-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC3-
-
-
-
1Loss-
ZFAND5p.N27H
Missense
SNP
0.468
2--
ZFP3-
-
-
-
1Loss-
ZFP90-
-
-
-
1Loss-
ZFR2-
-
-
-
1Loss-
ZFYVE9-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF121-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF277-
-
-
-
2-RN7SKP80--ZNF277
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
3Gain-
ZNF287-
-
-
-
1Loss-
ZNF317-
-
-
-
1Loss-
ZNF326-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF358-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF500-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF512-
-
-
-
2-ZNF512--BABAM2
BABAM2--ZNF512
ZNF536-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF589-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF596-
-
-
-
0Del-
ZNF624-
-
-
-
1Loss-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF639p.Y151C
Missense
SNP
0.467
2--
ZNF644-
-
-
-
1Loss-
ZNF653-
-
-
-
1Loss-
ZNF654-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF672p.T241M
Missense
SNP
0.490
2--
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF69-
-
-
-
1Loss-
ZNF699-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF703-
-
-
-
1Loss-
ZNF705B-
-
-
-
1Loss-
ZNF705D-
-
-
-
1Loss-
ZNF705G-
-
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1Loss-
ZNF714-
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ZNF723-
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ZNF724-
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ZNF726-
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ZNF730-
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ZNF737-
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1Loss-
ZNF738-
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1Loss-
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1Loss-
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1Loss-
ZNF791-
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1Loss-
ZNF799-
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1Loss-
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1Loss-
ZNF844-
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1Loss-
ZNF846-
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1Loss-
ZNF85-
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1Loss-
ZNF852-
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1Loss-
ZNF878-
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ZNF91-
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1Loss-
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1Loss-
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1Loss-
ZNF99-
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1Loss-
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1Loss-
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1Loss-
ZRANB2-
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1Loss-
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1Loss-
ZSWIM5-
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1Loss-
ZSWIM7-
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1Loss-
ZYG11A-
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1Loss-
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1Loss-
ZZEF1-
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1Loss-