PDMR-941425~263-T~E08-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AAMP-
-
-
-
1Loss-
ABCA12-
-
-
-
1Loss-
ABCA4-
-
-
-
1Loss-
ABCB6-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABCD3-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABRACL-
-
-
-
1Loss-
AC001226.2-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC093155.3-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC118549.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
ACADL-
-
-
-
1Loss-
ACADM-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACKR2-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACO1-
-
-
-
1Loss-
ACOD1-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACSL3-
-
-
-
1Loss-
ACTBL2-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADGB-
-
-
-
1Loss-
ADGRB3-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADGRL2-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADORA3-
-
-
-
1Loss-
ADPRHL1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGL-
-
-
-
1Loss-
AGPAT4-
-
-
-
1Loss-
AGXT-
-
-
-
1Loss-
AHCYL1-
-
-
-
1Loss-
AHI1-
-
-
-
1Loss-
AIG1-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKIRIN2-
-
-
-
1Loss-
AKNAD1-
-
-
-
1Loss-
AL031315.1-
-
-
-
1Loss-
AL049557.1-
-
-
-
1Loss-
AL049697.1-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL132671.2-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL359736.1-
-
-
-
1Loss-
AL359922.1-
-
-
-
0Del-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL445238.1-
-
-
-
1Loss-
AL445989.1-
-
-
-
1Loss-
AL449266.1-
-
-
-
1Loss-
AL512506.3-
-
-
-
1Loss-
AL513165.2-
-
-
-
1Loss-
AL589666.1-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG14-
-
-
-
1Loss-
ALG5-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALX3-
-
-
-
1Loss-
AMD1-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMIGO1-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD20A2-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD6-
-
-
-
1Loss-
ANKZF1-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP4B1-
-
-
-
1Loss-
APEH-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARFGEF3-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP18-
-
-
-
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF39-
-
-
-
1Loss-
ARHGEF7-
-
-
-
1Loss-
ARID1B-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL4C-
-
-
-
1Loss-
ARL6IP5-
-
-
-
1Loss-
ARMC2-
-
-
-
1Loss-
ARMC9-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASCC3-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASIC4-
-
-
-
1Loss-
ATG16L1-
-
-
-
1Loss-
ATG4B-
-
-
-
1Loss-
ATG5-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP12A-
-
-
-
1Loss-
ATP1A1-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP5PB-
-
-
-
1Loss-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
ATXN7L2-
-
-
-
1Loss-
B3GALT2-
-
-
-
3Gain-
B3GAT2-
-
-
-
1Loss-
B3GLCT-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
BACH2-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BARHL2-
-
-
-
1Loss-
BCAR3-
-
-
-
1Loss-
BCAS2-
-
-
-
1Loss-
BCKDHB-
-
-
-
1Loss-
BCL10-
-
-
-
1Loss-
BCL2L15-
-
-
-
1Loss-
BCLAF1-
-
-
-
1Loss-
BCS1L-
-
-
-
1Loss-
BEND3-
-
-
-
1Loss-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BRCA2-
-
-
-
1Loss-
BRDT-
-
-
-
1Loss-
BRINP3-
-
-
-
3Gain-
BSN-
-
-
-
1Loss-
BTBD8-
-
-
-
1Loss-
BVES-
-
-
-
1Loss-
C16orf89p.G178S
Missense
SNP
0.425
2--
C1orf146-
-
-
-
1Loss-
C1orf162-
-
-
-
1Loss-
C1orf194-
-
-
-
1Loss-
C1orf52-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf67-
-
-
-
1Loss-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf163-
-
-
-
1Loss-
C6orf203-
-
-
-
1Loss-
C6orf58-
-
-
-
1Loss-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
0Del-
CAB39-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPZA1-
-
-
-
1Loss-
CARF-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CASP8AP2-
-
-
-
1Loss-
CASQ2-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC140-
-
-
-
1Loss-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC170-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC18-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCIN-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL27-
-
-
-
1Loss-
CCNA1-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR6-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CD109-
-
-
-
1Loss-
CD164-
-
-
-
1Loss-
CD24-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD28-
-
-
-
1Loss-
CD53-
-
-
-
1Loss-
CD58-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDC14A-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC7-
-
-
-
1Loss-
CDC73-
-
-
-
3Gain-
CDCP1-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH6-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDK19-
-
-
-
1Loss-
CDK5R2-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDKN2A-
-
-
-
0Del-
CDKN2B-
-
-
-
0Del-
CDX2-
-
-
-
1Loss-
CELSR2-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPW-
-
-
-
1Loss-
CEP162-
-
-
-
1Loss-
CEP57L1-
-
-
-
1Loss-
CEP85L-
-
-
-
1Loss-
CEPT1-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CFAP206-
-
-
-
1Loss-
CFAP65-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFTRp.R658K
Missense
SNP
0.467
2--
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CHAMP1-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP5-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCC1-
-
-
-
1Loss-
CLCNKAp.A336T
Missense
SNP
0.466
2--
CLDN10-
-
-
-
1Loss-
CLDN20-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLTA-
-
-
-
1Loss-
CLVS2-
-
-
-
1Loss-
CLYBL-
-
-
-
1Loss-
CNKSR3-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN3-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNR1-
-
-
-
1Loss-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL11A1-
-
-
-
1Loss-
COL12A1-
-
-
-
1Loss-
COL19A1-
-
-
-
1Loss-
COL24A1-
-
-
-
1Loss-
COL4A1-
-
-
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1Loss-
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1Loss-
FKBP1C-
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3Gain-
FLNB-
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1Loss-
FLRT2-
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FLT1-
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1Loss-
FLT3-
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1Loss-
FN1-
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1Loss-
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1Loss-
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1Loss-
GJA10-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
GLMN-
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1Loss-
GLRX2-
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3Gain-
GLT8D1-
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1Loss-
GLYCTK-
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1Loss-
GMPPA-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
GOLGA6L2-
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3Gain-
GOLGA8S-
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3Gain-
GOLPH3-
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3Gain-
GOPC-
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1Loss-
GORASP1-
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1Loss-
GPALPP1-
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1Loss-
GPBAR1-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
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1Loss-
GPR27-
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1Loss-
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1Loss-
GPR35-
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1Loss-
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1Loss-
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1Loss-
GPR88-
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1Loss-
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1Loss-
GPX1-
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1Loss-
GPX8-
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1Loss-
GRB10p.A37T
Missense
SNP
0.591
2--
GRHPR-
-
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1Loss-
GRIK2-
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1Loss-
GRK1-
-
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1Loss-
GRM1-
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1Loss-
GRM2-
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1Loss-
GRTP1-
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1Loss-
GSTM2-
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1Loss-
GSTM3-
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1Loss-
GSTM4-
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1Loss-
GSTM5-
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1Loss-
GSX1-
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1Loss-
GTF2B-
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1Loss-
GTF2F2-
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1Loss-
GTF2H5-
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1Loss-
GTF3A-
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1Loss-
GTF3C6-
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1Loss-
GVQW2-
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1Loss-
GXYLT2-
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1Loss-
GZMA-
-
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1Loss-
GZMK-
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1Loss-
HACD4-
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1Loss-
HACE1-
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1Loss-
HAUS6-
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1Loss-
HBS1L-
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1Loss-
HDAC2-
-
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1Loss-
HDAC4-
-
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1Loss-
HDDC2-
-
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1Loss-
HDLBP-
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1Loss-
HEBP2-
-
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1Loss-
HECA-
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1Loss-
HEMK1-
-
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1Loss-
HENMT1-
-
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1Loss-
HES6-
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1Loss-
HESX1-
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1Loss-
HEY2-
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1Loss-
HFM1-
-
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1Loss-
HHATL-
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1Loss-
HIGD1A-
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1Loss-
HINT2-
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1Loss-
HINT3-
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1Loss-
HIPK1-
-
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1Loss-
HIVEP2-
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1Loss-
HJURP-
-
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1Loss-
HMGB1-
-
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1Loss-
HMGN3-
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1Loss-
HRCT1-
-
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1Loss-
HS2ST1-
-
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1Loss-
HS3ST5-
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1Loss-
HS6ST3-
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1Loss-
HSF2-
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1Loss-
HSPB3-
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1Loss-
HSPH1-
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1Loss-
HTD2-
-
-
-
1Loss-
HTR1B-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
IBTK-
-
-
-
1Loss-
ICA1L-
-
-
-
1Loss-
ICOS-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
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-
IFNGR1-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IFT88-
-
-
-
1Loss-
IGF2R-
-
-
-
1Loss-
IGFBP2-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IL11RA-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL20RA-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL6ST-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
IMPG1-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INKA2-
-
-
-
1Loss-
INO80D-
-
-
-
1Loss-
INPP5D-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPCEF1-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IQCA1p.T103M
Missense
SNP
1.000
1Loss-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IRAK1BP1-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
ISL1-
-
-
-
1Loss-
ITGA1-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
IYD-
-
-
-
1Loss-
IZUMO3-
-
-
-
0Del-
JAK2-
-
-
-
1Loss-
JMJD1C-AS1-
-
-
-
NDNDJMJD1C-AS1--REEP3
KANK1-
-
-
-
1Loss-
KANSL1L-
-
-
-
1Loss-
KATNA1-
-
-
-
1Loss-
KATNAL1-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNC4-
-
-
-
1Loss-
KCND3-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNH8p.L1088F
Missense
SNP
0.435
2--
KCNJ13-
-
-
-
1Loss-
KCNQ5-
-
-
-
1Loss-
KCNRG-
-
-
-
1Loss-
KCNT2-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCTD12-
-
-
-
1Loss-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDRBS2-
-
-
-
3Gain-
KIAA0408-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1324-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF1A-
-
-
-
1Loss-
KIF24-
-
-
-
1Loss-
KIF25-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF5-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL1-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL40-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KPNA3-
-
-
-
1Loss-
KPNA5-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KYAT3-
-
-
-
1Loss-
L3MBTL3-
-
-
-
1Loss-
LACC1-
-
-
-
1Loss-
LAMA2-
-
-
-
1Loss-
LAMA4-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMP1-
-
-
-
1Loss-
LAMTOR5-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LATS1-
-
-
-
1Loss-
LATS2-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCE6Ap.R62C
Missense
SNP
0.427
2--
LCP1-
-
-
-
1Loss-
LGR6p.R675Q
Missense
SNP
0.489
2--
LGSN-
-
-
-
3Gain-
LHFPL6-
-
-
-
1Loss-
LHX8-
-
-
-
1Loss-
LIG4-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIN28B-
-
-
-
1Loss-
LINC02203-
-
-
-
3Gain-
LINGO2-
-
-
-
1Loss-
LMBRD1-
-
-
-
1Loss-
LMO4-
-
-
-
1Loss-
LMO7-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LNX2-
-
-
-
1Loss-
LPA-
-
-
-
1Loss-
LPAR3-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRIF1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC39-
-
-
-
1Loss-
LRRC53-
-
-
-
1Loss-
LRRC63-
-
-
-
1Loss-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRFIP1-
-
-
-
1Loss-
LRRIQ3-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTV1-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LYNp.R464H
Missense
SNP
0.530
2--
LYRM2-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
MAB21L1-
-
-
-
1Loss-
MAB21L3-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MAGEL2-
-
-
-
3Gain-
MAGI1-
-
-
-
1Loss-
MAGI3-
-
-
-
1Loss-
MAN1A1-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP2-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP7-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCKS-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCHR2-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCM9-
-
-
-
1Loss-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
MDN1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MEDAG-
-
-
-
1Loss-
MEI4-
-
-
-
1Loss-
MELK-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL21C-
-
-
-
1Loss-
METTL24-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFSD14A-
-
-
-
1Loss-
MFSD4B-
-
-
-
1Loss-
MFSD6p.R328H
Missense
SNP
0.482
2--
MICAL1-
-
-
-
1Loss-
MICU2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIGA1-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKRN3-
-
-
-
3Gain-
MLANA-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLPH-
-
-
-
1Loss-
MMS22L-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MOV10-
-
-
-
1Loss-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MRAP2-
-
-
-
1Loss-
MREG-
-
-
-
1Loss-
MROH2A-
-
-
-
1Loss-
MRPL18-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPS31-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSMP-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MTAP-
-
-
-
0Del-
MTERF4-
-
-
-
1Loss-
MTF2-
-
-
-
1Loss-
MTFR2-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR6-
-
-
-
1Loss-
MTO1-
-
-
-
1Loss-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTRF1L-
-
-
-
1Loss-
MTUS2-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MYB-
-
-
-
1Loss-
MYBPHL-
-
-
-
1Loss-
MYCBP2-
-
-
-
1Loss-
MYCT1-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYO16-
-
-
-
1Loss-
MYO6-
-
-
-
1Loss-
MYORG-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MZT1-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NAXD-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBEAL1-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
1Loss-
NCOA7-
-
-
-
1Loss-
NDFIP2-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFB6-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEXN-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFX1-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGF-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLH2-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NHSL1-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NIPA1-
-
-
-
3Gain-
NIPA2-
-
-
-
3Gain-
NISCH-
-
-
-
1Loss-
NKAIN2-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NOL6-
-
-
-
1Loss-
NOP58-
-
-
-
1Loss-
NOTCH2p.N319S
Missense
SNP
0.535
2--
NOX3-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NR2E1-
-
-
-
1Loss-
NRAS-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NT5DC1-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NTNG1-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUP43-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUS1-
-
-
-
1Loss-
NYAP2-
-
-
-
1Loss-
OBSL1-
-
-
-
1Loss-
ODF2L-
-
-
-
1Loss-
OGFRL1-
-
-
-
1Loss-
OLFM3-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLFML3-
-
-
-
1Loss-
OLIG3-
-
-
-
1Loss-
OOEP-
-
-
-
1Loss-
OPRM1-
-
-
-
1Loss-
OR13J1-
-
-
-
1Loss-
OR2A4-
-
-
-
1Loss-
OR2S2-
-
-
-
1Loss-
OR4M2-
-
-
-
3Gain-
OR4N4-
-
-
-
3Gain-
OR5H15p.P58S
Missense
SNP
0.134
2--
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
ORC3-
-
-
-
1Loss-
OSTM1-
-
-
-
1Loss-
OTOS-
-
-
-
1Loss-
OVGP1-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PABPC3-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PALMD-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PARD3B-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PAX1p.A469V
Missense
SNP
0.609
2--
PAX3-
-
-
-
1Loss-
PAX5-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCDH17-
-
-
-
1Loss-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCID2-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE7B-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDSS2-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDZD2-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PECR-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PEX3-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PGM3-
-
-
-
1Loss-
PHACTR2-
-
-
-
1Loss-
PHF10-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHF3-
-
-
-
3Gain-
PHF7-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PI4KAp.A1448T
Missense
SNP
0.416
2--
PIBF1-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIEZO1p.R1925W
Missense
SNP
0.537
2--
PIFO-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIKFYVE-
-
-
-
1Loss-
PKIB-
-
-
-
1Loss-
PKN2-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLAA-
-
-
-
0Del-
PLAGL1-
-
-
-
1Loss-
PLCD4-
-
-
-
1Loss-
PLECp.G2799S
Missense
SNP
0.547
2--
PLEKHG1-
-
-
-
1Loss-
PLEKHM3-
-
-
-
1Loss-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLXNB1-
-
-
-
1Loss-
PM20D2-
-
-
-
1Loss-
PNISR-
-
-
-
1Loss-
PNKD-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNRC1-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POLR1D-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMP-
-
-
-
1Loss-
POPDC3-
-
-
-
1Loss-
POSTN-
-
-
-
1Loss-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POU1F1-
-
-
-
1Loss-
POU3F2-
-
-
-
1Loss-
POU4F1-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPM1J-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PRDM1-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PREP-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRKACB-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKN-
-
-
-
1Loss-
PRLH-
-
-
-
1Loss-
PRMT6-
-
-
-
1Loss-
PROK1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROSER1-
-
-
-
1Loss-
PROZ-
-
-
-
1Loss-
PRPF38B-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS35-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSMA5-
-
-
-
1Loss-
PSMB1-
-
-
-
1Loss-
PSMD1-
-
-
-
1Loss-
PSMD6-
-
-
-
1Loss-
PSPC1-
-
-
-
1Loss-
PSRC1-
-
-
-
1Loss-
PTBP2-
-
-
-
1Loss-
PTGFR-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTMA-
-
-
-
1Loss-
PTP4A1-
-
-
-
3Gain-
PTPN22-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRK-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRSp.R1384W
Missense
SNP
0.560
2--
PUM3-
-
-
-
1Loss-
PXK-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QRSL1-
-
-
-
1Loss-
RAB17-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RABGGTB-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAMACL-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAPH1-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASL11A-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBM15-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM26-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMXL1-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RECK-
-
-
-
1Loss-
REEP3-
-
-
-
2-JMJD1C-AS1--REEP3
REPS1-
-
-
-
1Loss-
RESP18-
-
-
-
1Loss-
RETREG2-
-
-
-
1Loss-
REV3L-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFPL4B-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX6-
-
-
-
1Loss-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RHBDD1-
-
-
-
1Loss-
RHOA-
-
-
-
1Loss-
RHOC-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIMS1-
-
-
-
1Loss-
RIPPLY2-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RNASET2-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF146-
-
-
-
1Loss-
RNF17-
-
-
-
1Loss-
RNF217-
-
-
-
1Loss-
RNF219-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNF6-
-
-
-
1Loss-
RNGTT-
-
-
-
1Loss-
RNPC3-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROS1-
-
-
-
1Loss-
RPAP2-
-
-
-
1Loss-
RPE-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPF2-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL37A-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPS12-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RSBN1-
-
-
-
1Loss-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
1Loss-
RSPO3-
-
-
-
1Loss-
RTCA-
-
-
-
1Loss-
RTN4IP1-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RTP5-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RUSC2-
-
-
-
1Loss-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RWDD3-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
S1PR1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SAMD13-
-
-
-
1Loss-
SAMD3-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAP18-
-
-
-
1Loss-
SARS-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SASS6-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCML4-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SDCCAG3p.K116N
Missense
SNP
0.507
NDND-
SDHAF4-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC63-
-
-
-
1Loss-
SELENOF-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SENP6-
-
-
-
1Loss-
SEPT2-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERP2-
-
-
-
1Loss-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERTM1-
-
-
-
1Loss-
SESN1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB2-
-
-
-
1Loss-
SF3B5-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFT2D1-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGK1-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GLB1-
-
-
-
1Loss-
SHB-
-
-
-
1Loss-
SHISA2-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIGMAR1-
-
-
-
1Loss-
SIKE1-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SKA3-
-
-
-
1Loss-
SLAIN1-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC16A1-
-
-
-
1Loss-
SLC16A10-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A4-
-
-
-
1Loss-
SLC17A5-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A15-
-
-
-
1Loss-
SLC22A16-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A24-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC2A12-
-
-
-
1Loss-
SLC30A7-
-
-
-
1Loss-
SLC35A1-
-
-
-
1Loss-
SLC35A3-
-
-
-
1Loss-
SLC35D3-
-
-
-
1Loss-
SLC35F1-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC44A3-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC46A3-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC6A17-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC7A1-
-
-
-
1Loss-
SLITRK1-
-
-
-
1Loss-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAP1-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMLR1-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SNAP91-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNED1-
-
-
-
1Loss-
SNORC-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNX14-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX3-
-
-
-
1Loss-
SNX7-
-
-
-
1Loss-
SNX9-
-
-
-
1Loss-
SOBP-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA3-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORT1-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX21-
-
-
-
1Loss-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
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1Loss-
SPAAR-
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1Loss-
SPACA1-
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SPACA7-
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1Loss-
SPAG16-
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1Loss-
SPAG8-
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1Loss-
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SPATA13-
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SPATA3-
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1Loss-
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1Loss-
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1Loss-
SPEG-
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1Loss-
SPERT-
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1Loss-
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SPINK4-
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1Loss-
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1Loss-
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1Loss-
SS18L2-
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1Loss-
SSX2IP-
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1Loss-
ST6GALNAC3-
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1Loss-
ST6GALNAC5-
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1Loss-
ST7L-
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1Loss-
STAB1-
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1Loss-
STARD13-
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1Loss-
STIMATE-
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1Loss-
STK11IP-
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1Loss-
STK16-
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1Loss-
STK24-
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1Loss-
STK25-
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1Loss-
STK36-
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1Loss-
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1Loss-
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1Loss-
STRIP1-
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1Loss-
STX11-
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1Loss-
STX7-
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1Loss-
STXBP3-
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1Loss-
STXBP5-
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1Loss-
SUCLA2-
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1Loss-
SUCLG2-
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1Loss-
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1Loss-
SUMO1-
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1Loss-
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1Loss-
SUPT20H-
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1Loss-
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TAB2-
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1Loss-
TAF13-
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1Loss-
TAGAP-
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1Loss-
TBC1D32-
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1Loss-
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1Loss-
TBP-
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1Loss-
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TBX18-
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1Loss-
TBXT-
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1Loss-
TCAIM-
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1Loss-
TCF21-
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1Loss-
TCP1-
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1Loss-
TCP10-
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1Loss-
TCP10L2-
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1Loss-
TCTA-
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1Loss-
TCTE3-
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1Loss-
TDGF1-
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1Loss-
TDRD3-
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1Loss-
TEK-
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1Loss-
TENT5A-
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1Loss-
TESK1-
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1Loss-
TEX26-
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TEX264-
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TEX30-
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1Loss-
TEX44-
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1Loss-
TFB1M-
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1Loss-
TFDP1-
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1Loss-
TGDS-
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1Loss-
TGFBR3-
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1Loss-
TGM4-
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1Loss-
THAP4-
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1Loss-
THBS2-
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1Loss-
THEMIS-
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1Loss-
THOC7-
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1Loss-
THSD1-
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1Loss-
TIAM2-
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1Loss-
TIGD1-
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1Loss-
TKT-
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1Loss-
TLN1-
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1Loss-
TLR9-
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1Loss-
TM4SF20-
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1Loss-
TM9SF2-
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1Loss-
TMA7-
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1Loss-
TMBIM1-
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1Loss-
TMCO3-
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1Loss-
TMED5-
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1Loss-
TMEM110-MUSTN1-
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1Loss-
TMEM115-
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1Loss-
TMEM158-
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1Loss-
TMEM167B-
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1Loss-
TMEM169-
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1Loss-
TMEM181-
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1Loss-
TMEM198-
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1Loss-
TMEM200A-
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1Loss-
TMEM215-
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1Loss-
TMEM242-
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1Loss-
TMEM244-
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1Loss-
TMEM255B-
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1Loss-
TMEM272-
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TMEM30A-
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1Loss-
TMEM42-
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1Loss-
TMEM56-
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1Loss-
TMEM56-RWDD3-
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1Loss-
TMEM89-
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1Loss-
TMEM8B-
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1Loss-
TMF1-
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1Loss-
TMIE-
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1Loss-
TMIGD3-
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1Loss-
TMTC4-
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1Loss-
TNFAIP3-
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1Loss-
TNFRSF19-
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1Loss-
TNFSF11-
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1Loss-
TNFSF13B-
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1Loss-
TNNC1-
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1Loss-
TNNI3K-
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1Loss-
TNP1-
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1Loss-
TNS1-
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1Loss-
TNXB-
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1Loss-
TOMM5-
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1Loss-
TOPAZ1-
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1Loss-
TOPORS-
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1Loss-
TPBG-
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1Loss-
TPD52L1-
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1Loss-
TPD52L3-
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1Loss-
TPM2-
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1Loss-
TPP2-
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1Loss-
TPT1-
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1Loss-
TPTE2-
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1Loss-
TRAF3IP1-
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1Loss-
TRAF3IP2-
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1Loss-
TRAIP-
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1Loss-
TRAK1-
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1Loss-
TRAPPC3L-
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1Loss-
TRDN-
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1Loss-
TREX1-
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1Loss-
TRIM13-
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1Loss-
TRIM33-
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1Loss-
TRIP12-
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1Loss-
TRMT10B-
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1Loss-
TRMT11-
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1Loss-
TRMT13-
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1Loss-
TROVE2-
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3Gain-
TRPC4-
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1Loss-
TRPM8-
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1Loss-
TSC22D1-
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1Loss-
TSHB-
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1Loss-
TSPAN2-
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1Loss-
TSPYL1-
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1Loss-
TSPYL4-
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1Loss-
TSTD3-
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1Loss-
TTC21A-
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1Loss-
TTC39B-
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1Loss-
TTK-
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1Loss-
TTLL2-
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1Loss-
TTLL4-
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1Loss-
TTLL7-
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1Loss-
TUBA3C-
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1Loss-
TUBA4A-
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1Loss-
TUBA4B-
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1Loss-
TUBE1-
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1Loss-
TUBGCP3-
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1Loss-
TUBGCP5-
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3Gain-
TULP4-
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1Loss-
TUSC1-
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0Del-
TUSC2-
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1Loss-
TWF2-
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1Loss-
TWIST2-
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1Loss-
TXLNB-
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1Loss-
TYRP1-
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1Loss-
TYW3-
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1Loss-
UBA3-
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1Loss-
UBA7-
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1Loss-
UBAC2-
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1Loss-
UBAP1-
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1Loss-
UBAP2-
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1Loss-
UBE2F-
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1Loss-
UBE2F-SCLY-
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1Loss-
UBE2J1-
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1Loss-
UBE2L5-
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1Loss-
UBE2R2-
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1Loss-
UBE3D-
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1Loss-
UBL3-
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1Loss-
UBL4B-
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1Loss-
UCHL3-
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1Loss-
UCHL5-
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3Gain-
UCN2-
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1Loss-
UFL1-
-
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1Loss-
UFM1-
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1Loss-
UGGT2-
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1Loss-
UGT1A1-
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1Loss-
UGT1A10-
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1Loss-
UGT1A3-
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1Loss-
UGT1A4-
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1Loss-
UGT1A5-
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1Loss-
UGT1A6-
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1Loss-
UGT1A7-
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1Loss-
UGT1A8-
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1Loss-
UGT1A9-
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1Loss-
UHRF2-
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1Loss-
ULBP1-
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1Loss-
ULBP2-
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1Loss-
ULBP3-
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1Loss-
ULK4-
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1Loss-
UNC13B-
-
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1Loss-
UNC80-
-
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1Loss-
UNC93A-
-
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1Loss-
UPF3A-
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1Loss-
UQCRC1-
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1Loss-
URAD-
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1Loss-
USP12-
-
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1Loss-
USP19-
-
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1Loss-
USP33-
-
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1Loss-
USP37-
-
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1Loss-
USP4-
-
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1Loss-
USP40-
-
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1Loss-
USP45-
-
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1Loss-
USP53p.M378V
Missense
SNP
0.431
2--
USPL1-
-
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1Loss-
UST-
-
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1Loss-
UTP14C-
-
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1Loss-
UTRN-
-
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1Loss-
VANGL1-
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1Loss-
VAV3-
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1Loss-
VCAM1-
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1Loss-
VCP-
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1Loss-
VGLL2-
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1Loss-
VGLL3-
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1Loss-
VIL1-
-
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1Loss-
VIP-
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1Loss-
VIPR1-
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1Loss-
VLDLR-
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1Loss-
VNN1-
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1Loss-
VNN2-
-
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1Loss-
VNN3-
-
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1Loss-
VPS36-
-
-
-
1Loss-
VPS50p.T722M
Missense
SNP
0.495
2--
VTA1-
-
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-
1Loss-
VWA8-
-
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-
1Loss-
VWC2L-
-
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1Loss-
WASF1-
-
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1Loss-
WASF3-
-
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1Loss-
WBP4-
-
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1Loss-
WDFY1-
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1Loss-
WDFY2-
-
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1Loss-
WDR12-
-
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1Loss-
WDR27-
-
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1Loss-
WDR47-
-
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1Loss-
WDR48-
-
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1Loss-
WDR6-
-
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1Loss-
WDR63-
-
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1Loss-
WDR77-
-
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1Loss-
WDR82-
-
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1Loss-
WISP3-
-
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1Loss-
WNT10A-
-
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1Loss-
WNT2B-
-
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1Loss-
WNT5A-
-
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1Loss-
WNT6-
-
-
-
1Loss-
WTAP-
-
-
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1Loss-
XCR1-
-
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1Loss-
XIRP1-
-
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1Loss-
XPO4-
-
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1Loss-
XRCC5-
-
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1Loss-
Z84488.2-
-
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1Loss-
Z84492.1-
-
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1Loss-
ZAR1L-
-
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1Loss-
ZBTB2-
-
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1Loss-
ZBTB24-
-
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1Loss-
ZBTB47-
-
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1Loss-
ZBTB5-
-
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1Loss-
ZC2HC1B-
-
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1Loss-
ZC3H12D-
-
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1Loss-
ZC3H13-
-
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1Loss-
ZCCHC7-
-
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1Loss-
ZDBF2-
-
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1Loss-
ZDHHC14-
-
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1Loss-
ZDHHC20-
-
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1Loss-
ZDHHC21-
-
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1Loss-
ZDHHC3-
-
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1Loss-
ZFAND2B-
-
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1Loss-
ZIC2-
-
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1Loss-
ZIC5-
-
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1Loss-
ZKSCAN7-
-
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1Loss-
ZMYM2-
-
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1Loss-
ZMYM5-
-
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1Loss-
ZMYND10-
-
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1Loss-
ZNF142-
-
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1Loss-
ZNF197-
-
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1Loss-
ZNF292-
-
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1Loss-
ZNF326-
-
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1Loss-
ZNF35-
-
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1Loss-
ZNF445-
-
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1Loss-
ZNF501-
-
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1Loss-
ZNF502-
-
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1Loss-
ZNF589-
-
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1Loss-
ZNF619-
-
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1Loss-
ZNF620-
-
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1Loss-
ZNF621-
-
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1Loss-
ZNF644-
-
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1Loss-
ZNF654-
-
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1Loss-
ZNF660-
-
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1Loss-
ZNF662-
-
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1Loss-
ZNF717-
-
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1Loss-
ZNF852-
-
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1Loss-
ZNHIT6-
-
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1Loss-
ZSWIM6-
-
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1Loss-
ZUP1-
-
-
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1Loss-