PDMR-767577~098-T~CF8X82WH1-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
6Amp-
A2ML1-
-
-
-
6Amp-
AAMP-
-
-
-
1Loss-
AARS2-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
ABCA12-
-
-
-
1Loss-
ABCB6-
-
-
-
1Loss-
ABCC10-
-
-
-
1Loss-
ABCF1-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABHD16A-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABRACL-
-
-
-
1Loss-
ABT1-
-
-
-
1Loss-
AC002310.4-
-
-
-
3Gain-
AC002310.5-
-
-
-
3Gain-
AC005832.4-
-
-
-
6Amp-
AC005833.1-
-
-
-
6Amp-
AC006064.6-
-
-
-
10Amp-
AC008012.1-
-
-
-
6Amp-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009086.2-
-
-
-
3Gain-
AC009133.6-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092111.3-
-
-
-
6Amp-
AC093512.2-
-
-
-
3Gain-
AC098650.1-
-
-
-
1Loss-
AC104109.3-
-
-
-
1Loss-
AC106886.5-
-
-
-
3Gain-
AC108488.2-
-
-
-
1Loss-
AC116366.3-
-
-
-
1Loss-
AC120114.4-
-
-
-
3Gain-
AC131097.2-
-
-
-
1Loss-
AC135050.2-
-
-
-
3Gain-
AC138894.1-
-
-
-
3Gain-
AC142391.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
ACAD8-
-
-
-
1Loss-
ACADL-
-
-
-
1Loss-
ACAT1-
-
-
-
1Loss-
ACAT2p.K211R
Missense
SNP
0.145
1Loss-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACO1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT13-
-
-
-
1Loss-
ACP1-
-
-
-
1Loss-
ACRBP-
-
-
-
10Amp-
ACRV1-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM4-
-
-
-
10Amp-
ACTBL2-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAMTS15-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS5p.L692P
Missense
SNP
0.053
2--
ADAMTS6-
-
-
-
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADARB2-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADCY4-
-
-
-
1Loss-
ADGB-
-
-
-
1Loss-
ADGRB3-
-
-
-
1Loss-
ADGRF1-
-
-
-
1Loss-
ADGRF2-
-
-
-
1Loss-
ADGRF4-
-
-
-
1Loss-
ADGRF5-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADI1-
-
-
-
1Loss-
ADIPOR2-
-
-
-
4Gain-
ADRA1B-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
ADTRP-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGER-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AGPAT1-
-
-
-
1Loss-
AGPAT4-
-
-
-
1Loss-
AGXT-
-
-
-
1Loss-
AHI1-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHSP-
-
-
-
3Gain-
AICDA-
-
-
-
6Amp-
AIF1-
-
-
-
1Loss-
AIG1-
-
-
-
1Loss-
AJUBA-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP3-
-
-
-
6Amp-
AKAP7-
-
-
-
1Loss-
AKAP9p.M463I
p.N2792S
Missense
Missense
SNP
SNP
0.096
0.083
2--
AKIRIN2-
-
-
-
1Loss-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1E2-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AL021997.3-
-
-
-
1Loss-
AL024498.2-
-
-
-
1Loss-
AL031315.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
1Loss-
AL049697.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL096814.1-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL110118.2-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL132671.2-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL139300.1-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL353588.1-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL365205.1-
-
-
-
1Loss-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
1Loss-
AL513165.2-
-
-
-
1Loss-
AL589666.1-
-
-
-
1Loss-
AL645922.1-
-
-
-
1Loss-
AL645941.2-
-
-
-
1Loss-
AL662884.4-
-
-
-
1Loss-
AL662899.1-
-
-
-
1Loss-
AL662899.2-
-
-
-
1Loss-
AL669918.1-
-
-
-
1Loss-
AL928654.3-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH5A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDOA-
-
-
-
3Gain-
ALG6p.S304F
Missense
SNP
0.086
2--
ALG9-
-
-
-
1Loss-
ALKAL2-
-
-
-
1Loss-
ALKBH8-
-
-
-
1Loss-
ALLC-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
AMD1-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMOTL1-
-
-
-
1Loss-
ANG-
-
-
-
1Loss-
ANGPTL5-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKK1-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18Bp.R573H
Missense
SNP
0.065
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD34B-
-
-
-
1Loss-
ANKRD44-
-
-
-
1Loss-
ANKRD49-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD6-
-
-
-
1Loss-
ANKRD66-
-
-
-
1Loss-
ANKRD9-
-
-
-
1Loss-
ANKS1A-
-
-
-
1Loss-
ANKZF1-
-
-
-
1Loss-
ANO2-
-
-
-
10Amp-
ANO7-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
AOX1-
-
-
-
1Loss-
AP000646.1-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
APBB1IP-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APEX1-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC1-
-
-
-
10Amp-
APOBEC2-
-
-
-
1Loss-
APOBR-
-
-
-
3Gain-
APOC3-
-
-
-
1Loss-
APOM-
-
-
-
1Loss-
APOPT1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
AQP8-
-
-
-
8Amp-
ARAP3-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
ARFGEF3-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP17-
-
-
-
8Amp-
ARHGAP18-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP32-
-
-
-
1Loss-
ARHGAP42-
-
-
-
1Loss-
ARHGDIB-
-
-
-
10Amp-
ARHGEF12-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF39-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARID1B-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL4C-
-
-
-
1Loss-
ARL5B-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARMC12-
-
-
-
1Loss-
ARMC2-
-
-
-
1Loss-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC5-
-
-
-
3Gain-
ARMC9-
-
-
-
1Loss-
ARMH2-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
7Amp-
ARPC4-TTLL3-
-
-
-
7Amp-
ARRDC3-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART4-
-
-
-
10Amp-
ASB1-
-
-
-
1Loss-
ASB13-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB2-
-
-
-
1Loss-
ASCC3-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASIC4-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPHD1-
-
-
-
3Gain-
ASPMp.L2647I
p.S2562G
p.R1818C
Missense
Missense
Missense
SNP
SNP
SNP
0.098
0.139
0.122
2--
ATAT1-
-
-
-
1Loss-
ATF6B-
-
-
-
1Loss-
ATF7IP-
-
-
-
10Amp-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG16L1-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG4B-
-
-
-
1Loss-
ATG5-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATN1-
-
-
-
10Amp-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP2A1-
-
-
-
3Gain-
ATP5F1C-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5MPL-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V1G2-
-
-
-
1Loss-
ATP6V1G2-DDX39B-
-
-
-
1Loss-
ATRXp.S1253*
Nonsense
SNP
0.946
NDND-
ATXN1-
-
-
-
1Loss-
ATXN2L-
-
-
-
3Gain-
ATXN3-
-
-
-
1Loss-
AVPR1Bp.R364H
p.K65N
Missense
Missense
SNP
SNP
0.148
0.092
2--
AZI2-
-
-
-
1Loss-
B3GALT4-
-
-
-
1Loss-
B3GAT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B4GALNT3-
-
-
-
4Gain-
B4GALT1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BACH2-
-
-
-
1Loss-
BAG1-
-
-
-
1Loss-
BAG2-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAG6-
-
-
-
1Loss-
BAK1-
-
-
-
1Loss-
BAMBI-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BATF-
-
-
-
1Loss-
BCAMp.R329Q
Missense
SNP
0.553
2--
BCKDHB-
-
-
-
1Loss-
BCKDK-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL7C-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCLAF1-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BCS1L-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND3-
-
-
-
1Loss-
BEND6-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BHLHE40-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICRAL-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLOC1S5-
-
-
-
1Loss-
BLOC1S5-TXNDC5-
-
-
-
1Loss-
BMI1-
-
-
-
1Loss-
BMP5-
-
-
-
1Loss-
BMP6-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLA2-
-
-
-
3Gain-
BOLA2-SMG1P6-
-
-
-
3Gain-
BOLA2B-
-
-
-
3Gain-
BOLL-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BPHL-
-
-
-
1Loss-
BRAFp.V600E
Missense
SNP
0.084
2--
BRD2-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRPF1-
-
-
-
7Amp-
BRPF3-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTBD9-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTN1A1-
-
-
-
1Loss-
BTN2A1-
-
-
-
1Loss-
BTN2A2-
-
-
-
1Loss-
BTN3A1-
-
-
-
1Loss-
BTN3A2-
-
-
-
1Loss-
BTN3A3-
-
-
-
1Loss-
BTNL2-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
BVES-
-
-
-
1Loss-
BYSL-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C12orf4-
-
-
-
6Amp-
C12orf57-
-
-
-
10Amp-
C12orf60-
-
-
-
10Amp-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C16orf54-
-
-
-
3Gain-
C16orf58-
-
-
-
3Gain-
C16orf92-
-
-
-
3Gain-
C1orf27p.S251C
Missense
SNP
0.159
NDND-
C1QL3-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C1R-
-
-
-
10Amp-
C1RL-
-
-
-
10Amp-
C1S-
-
-
-
10Amp-
C2p.E318D
Missense
SNP
0.088
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD6-
-
-
-
1Loss-
C2orf66-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C3AR1-
-
-
-
6Amp-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf46-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6orf10-
-
-
-
1Loss-
C6orf106-
-
-
-
1Loss-
C6orf118p.I256M
Missense
SNP
0.167
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf132-
-
-
-
1Loss-
C6orf136-
-
-
-
1Loss-
C6orf141-
-
-
-
1Loss-
C6orf15-
-
-
-
1Loss-
C6orf163-
-
-
-
1Loss-
C6orf201-
-
-
-
1Loss-
C6orf203-
-
-
-
1Loss-
C6orf222-
-
-
-
1Loss-
C6orf223-
-
-
-
1Loss-
C6orf226-
-
-
-
1Loss-
C6orf47-
-
-
-
1Loss-
C6orf48-
-
-
-
1Loss-
C6orf52-
-
-
-
1Loss-
C6orf58-
-
-
-
1Loss-
C6orf62-
-
-
-
1Loss-
C6orf89-
-
-
-
1Loss-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CAB39-
-
-
-
1Loss-
CACNA1C-
-
-
-
4Gain-
CACNA2D4-
-
-
-
4Gain-
CACNB2p.R478C
Missense
SNP
0.070
1Loss-
CADM1-
-
-
-
1Loss-
CAGE1p.E282A
Missense
SNP
0.123
1Loss-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CAMK1-
-
-
-
7Amp-
CAMK1D-
-
-
-
1Loss-
CAMK2A-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAND2-
-
-
-
6Amp-
CAP2-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPN11-
-
-
-
1Loss-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARF-
-
-
-
1Loss-
CARMIL1-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASP1-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASP8AP2-
-
-
-
1Loss-
CAST-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CAVIN2-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBWD3-
-
-
-
1Loss-
CBWD5-
-
-
-
1Loss-
CBWD6-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC15-
-
-
-
1Loss-
CCDC150-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC167-
-
-
-
1Loss-
CCDC170-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC189-
-
-
-
3Gain-
CCDC197-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC3-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC77-
-
-
-
4Gain-
CCDC82-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCHCR1-
-
-
-
1Loss-
CCIN-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL27-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCND2-
-
-
-
6Amp-
CCND3-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCNY-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCR2p.V64I
Missense
SNP
0.082
2--
CCR6-
-
-
-
1Loss-
CD109-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD163-
-
-
-
10Amp-
CD163L1-
-
-
-
10Amp-
CD164-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD19-
-
-
-
3Gain-
CD24-
-
-
-
1Loss-
CD27-
-
-
-
10Amp-
CD274-
-
-
-
1Loss-
CD28-
-
-
-
1Loss-
CD2AP-
-
-
-
1Loss-
CD2BP2-
-
-
-
3Gain-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD4-
-
-
-
10Amp-
CD69-
-
-
-
6Amp-
CD72-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD83-
-
-
-
1Loss-
CD9-
-
-
-
10Amp-
CDC123-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC42BPB-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDC5L-
-
-
-
1Loss-
CDCA3-
-
-
-
10Amp-
CDCA4-
-
-
-
1Loss-
CDH24-
-
-
-
1Loss-
CDIPT-
-
-
-
3Gain-
CDK15-
-
-
-
1Loss-
CDK19-
-
-
-
1Loss-
CDK5R2-
-
-
-
1Loss-
CDK5RAP2p.E289Q
Missense
SNP
0.105
2--
CDK7-
-
-
-
1Loss-
CDKAL1-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1A-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDNF-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDSN-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDX2p.P293S
Missense
SNP
0.064
2--
CDYL-
-
-
-
1Loss-
CEBPE-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPQ-
-
-
-
1Loss-
CENPW-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP126-
-
-
-
1Loss-
CEP128-
-
-
-
3Gain-
CEP162-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CEP295-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP57L1-
-
-
-
1Loss-
CEP85L-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CFAP206-
-
-
-
1Loss-
CFAP300-
-
-
-
1Loss-
CFAP58p.F154S
Missense
SNP
0.055
2--
CFAP65-
-
-
-
1Loss-
CFBp.L9H
Missense
SNP
0.078
1Loss-
CFHp.E936D
Missense
SNP
0.149
2--
CFLAR-
-
-
-
1Loss-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CHD1-
-
-
-
1Loss-
CHD4-
-
-
-
10Amp-
CHD8-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHGA-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP5-
-
-
-
1Loss-
CHPF-
-
-
-
1Loss-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
7Amp-
CINP-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLDN20-
-
-
-
1Loss-
CLDN25-
-
-
-
1Loss-
CLEC2D-
-
-
-
6Amp-
CLEC4A-
-
-
-
6Amp-
CLEC4C-
-
-
-
6Amp-
CLEC4D-
-
-
-
10Amp-
CLEC4E-
-
-
-
6Amp-
CLEC6A-
-
-
-
6Amp-
CLECL1-
-
-
-
6Amp-
CLIC1-
-
-
-
1Loss-
CLIC5-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLK1-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLN3-
-
-
-
3Gain-
CLPS-
-
-
-
1Loss-
CLPSL1-
-
-
-
1Loss-
CLPSL2-
-
-
-
1Loss-
CLSTN3-
-
-
-
10Amp-
CLTA-
-
-
-
1Loss-
CLVS2-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMPK2-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CMTR1-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNGA1p.T729P
Missense
SNP
0.055
2--
CNKSR3-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNPY3-
-
-
-
1Loss-
CNR1-
-
-
-
1Loss-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL11A2-
-
-
-
1Loss-
COL12A1-
-
-
-
1Loss-
COL19A1-
-
-
-
1Loss-
COL21A1-
-
-
-
1Loss-
COL26A1p.P390H
Missense
SNP
0.121
2--
COL4A3p.H451R
Missense
SNP
0.061
1Loss-
COL4A3BP-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL9A1-
-
-
-
1Loss-
COLCA2-
-
-
-
1Loss-
COLEC11-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COPS7A-
-
-
-
10Amp-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COQ10B-
-
-
-
1Loss-
COQ3-
-
-
-
1Loss-
CORO1A-
-
-
-
3Gain-
COX6A2-
-
-
-
3Gain-
COX7A2-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CPNE5-
-
-
-
1Loss-
CPNE6-
-
-
-
1Loss-
CPNE9-
-
-
-
7Amp-
CPO-
-
-
-
1Loss-
CPS1-
-
-
-
1Loss-
CPSF2-
-
-
-
1Loss-
CRACR2A-
-
-
-
4Gain-
CRBN-
-
-
-
1Loss-
CREB1-
-
-
-
1Loss-
CREB3-
-
-
-
1Loss-
CRELD1-
-
-
-
7Amp-
CREM-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRIP3-
-
-
-
1Loss-
CRISP1-
-
-
-
1Loss-
CRISP2-
-
-
-
1Loss-
CRISP3-
-
-
-
1Loss-
CROCC2-
-
-
-
1Loss-
CRTAM-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBA2-
-
-
-
1Loss-
CRYBG1-
-
-
-
1Loss-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2B-
-
-
-
1Loss-
CTAGE9-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTF1-
-
-
-
3Gain-
CTGF-
-
-
-
1Loss-
CTLA4-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUBN-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL3-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CUL7-
-
-
-
1Loss-
CUL9-
-
-
-
1Loss-
CUTA-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYP20A1-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP39A1-
-
-
-
1Loss-
CYP46A1-
-
-
-
1Loss-
CYSTM1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAAM2-
-
-
-
1Loss-
DACT2p.T541P
Missense
SNP
0.073
1Loss-
DAD1-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DAXX-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCANP1-
-
-
-
1Loss-
DCBLD1-
-
-
-
1Loss-
DCDC2-
-
-
-
1Loss-
DCDC2C-
-
-
-
1Loss-
DCLRE1C-
-
-
-
1Loss-
DCP1B-
-
-
-
4Gain-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCSTAMPp.E192Q
Missense
SNP
0.061
2--
DCTN3-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCTPP1-
-
-
-
3Gain-
DDAH2-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDR1-
-
-
-
1Loss-
DDX10-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX39B-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX43-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX58-
-
-
-
1Loss-
DDX6-
-
-
-
1Loss-
DEF6-
-
-
-
1Loss-
DEFB110-
-
-
-
1Loss-
DEFB112-
-
-
-
1Loss-
DEFB113-
-
-
-
1Loss-
DEFB114-
-
-
-
1Loss-
DEFB133-
-
-
-
1Loss-
DEGS2-
-
-
-
1Loss-
DEK-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND2Cp.I56L
Missense
SNP
0.054
2--
DENND4C-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DEUP1-
-
-
-
1Loss-
DGKD-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX16-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIMT1-
-
-
-
1Loss-
DIO2-
-
-
-
3Gain-
DIO3-
-
-
-
1Loss-
DIP2C-
-
-
-
1Loss-
DIS3L2-
-
-
-
1Loss-
DIXDC1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLK1-
-
-
-
1Loss-
DLK2-
-
-
-
1Loss-
DLL1-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMBT1p.S343T
Missense
SNP
0.057
2--
DMGDH-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DNAH7-
-
-
-
1Loss-
DNAH8-
-
-
-
1Loss-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJB5-
-
-
-
1Loss-
DNAJC1-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNPEP-
-
-
-
1Loss-
DNPH1-
-
-
-
1Loss-
DOC2A-
-
-
-
3Gain-
DOCK10-
-
-
-
3Gain-
DOCK8-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCR1p.E720G
Missense
SNP
0.058
NDND-
DPP6p.S262L
Missense
SNP
0.115
2--
DPPA3-
-
-
-
6Amp-
DPPA5-
-
-
-
1Loss-
DPYSL3-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DSCAML1-
-
-
-
1Loss-
DSE-
-
-
-
1Loss-
DSP-
-
-
-
1Loss-
DST-
-
-
-
1Loss-
DTNBP1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTYMK-
-
-
-
1Loss-
DUSP22-
-
-
-
1Loss-
DUSP28-
-
-
-
1Loss-
DXO-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYNLT1-
-
-
-
1Loss-
DYRK4-
-
-
-
6Amp-
DYTN-
-
-
-
1Loss-
E2F3-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
ECE2p.R170W
Missense
SNP
0.068
2--
ECEL1-
-
-
-
1Loss-
ECHDC1-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECI2-
-
-
-
1Loss-
ECSCR-
-
-
-
1Loss-
ECT2L-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EDN1-
-
-
-
1Loss-
EEF1A1-
-
-
-
1Loss-
EEF1B2-
-
-
-
1Loss-
EEF1E1-
-
-
-
1Loss-
EEF1E1-BLOC1S5-
-
-
-
1Loss-
EFHC1-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFNA5-
-
-
-
1Loss-
EFS-
-
-
-
1Loss-
EGFL8-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EHMT2-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EIF3C-
-
-
-
3Gain-
EIF3CL-
-
-
-
3Gain-
EIF4E2-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF5-
-
-
-
1Loss-
EIPR1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELMOD1-
-
-
-
1Loss-
ELOVL2-
-
-
-
1Loss-
ELOVL4-
-
-
-
1Loss-
ELOVL5-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC3-
-
-
-
7Amp-
EMC9-
-
-
-
1Loss-
EMG1-
-
-
-
10Amp-
EML1-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENHO-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENO2-
-
-
-
10Amp-
ENPP1-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP4-
-
-
-
1Loss-
ENPP5-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EPB41L2-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPC1-
-
-
-
1Loss-
EPHA7p.I138V
Missense
SNP
0.062
1Loss-
EPM2A-
-
-
-
1Loss-
EPRSp.I1043V
Missense
SNP
0.056
2--
EQTN-
-
-
-
1Loss-
ERAP1p.M349V
Missense
SNP
0.124
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB4-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERC1-
-
-
-
4Gain-
ERCC8-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERP27-
-
-
-
10Amp-
ERVFRD-1-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESM1-
-
-
-
1Loss-
ESPNL-
-
-
-
1Loss-
ESR1p.H6Y
Missense
SNP
0.056
1Loss-
ETF1-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
ETV7-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EXOC2-
-
-
-
1Loss-
EXOC3L4-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EYA4-
-
-
-
1Loss-
EYS-
-
-
-
1Loss-
EZR-
-
-
-
1Loss-
F13A1-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
FABP6-
-
-
-
1Loss-
FABP7-
-
-
-
1Loss-
FAM107B-
-
-
-
1Loss-
FAM110C-
-
-
-
1Loss-
FAM114A2-
-
-
-
1Loss-
FAM117B-
-
-
-
1Loss-
FAM118B-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM126B-
-
-
-
1Loss-
FAM135A-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM162B-
-
-
-
1Loss-
FAM166B-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM171A1-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM184A-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM205C-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM214B-
-
-
-
1Loss-
FAM217A-
-
-
-
1Loss-
FAM219A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM229B-
-
-
-
1Loss-
FAM237A-
-
-
-
1Loss-
FAM50B-
-
-
-
1Loss-
FAM53C-
-
-
-
1Loss-
FAM57B-
-
-
-
3Gain-
FAM71B-
-
-
-
1Loss-
FAM76B-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83B-
-
-
-
1Loss-
FAM8A1-
-
-
-
1Loss-
FAM95C-
-
-
-
1Loss-
FANCE-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARS2-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FAT2-
-
-
-
1Loss-
FAT3-
-
-
-
1Loss-
FAXC-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBRS-
-
-
-
3Gain-
FBXL14-
-
-
-
4Gain-
FBXL17-
-
-
-
1Loss-
FBXL19-
-
-
-
3Gain-
FBXL4-
-
-
-
1Loss-
FBXO10-
-
-
-
1Loss-
FBXO24p.T574M
Missense
SNP
0.089
2--
FBXO30-
-
-
-
1Loss-
FBXO36-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO5-
-
-
-
1Loss-
FBXO9-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCRLAp.R372Q
Missense
SNP
0.086
2--
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FEV-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FGD2-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF23-
-
-
-
6Amp-
FGF6-
-
-
-
6Amp-
FGFR1OP-
-
-
-
1Loss-
FHL5-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FILIP1-
-
-
-
1Loss-
FITM1-
-
-
-
1Loss-
FKBP1C-
-
-
-
1Loss-
FKBP4-
-
-
-
4Gain-
FKBP5-
-
-
-
1Loss-
FKBPL-
-
-
-
1Loss-
FLI1-
-
-
-
1Loss-
FLOT1-
-
-
-
1Loss-
FLRT2-
-
-
-
1Loss-
FLT4p.R1324L
Missense
SNP
0.062
2--
FLVCR2p.V16A
Missense
SNP
0.065
1Loss-
FN1-
-
-
-
1Loss-
FNDC1-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOXC1-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXF2-
-
-
-
1Loss-
FOXG1-
-
-
-
1Loss-
FOXJ2-
-
-
-
6Amp-
FOXM1-
-
-
-
4Gain-
FOXO3-
-
-
-
1Loss-
FOXP4-
-
-
-
1Loss-
FOXQ1-
-
-
-
1Loss-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FRK-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FRS3-
-
-
-
1Loss-
FST-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTCDNL1-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUS-
-
-
-
3Gain-
FUT4-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYN-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD5-
-
-
-
1Loss-
FZD7-
-
-
-
1Loss-
FZD8-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
GABBR1-
-
-
-
1Loss-
GABRA1-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GAD2-
-
-
-
1Loss-
GAL3ST2-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT8-
-
-
-
6Amp-
GALT-
-
-
-
1Loss-
GAPDH-
-
-
-
10AmpGAPDHP17--GAPDH
GAPDHP17-
-
-
-
NDNDGAPDHP17--GAPDH
GAPT-
-
-
-
1Loss-
GATA3-
-
-
-
1Loss-
GBA2-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GCLC-
-
-
-
1Loss-
GCM1-
-
-
-
1Loss-
GCM2-
-
-
-
1Loss-
GCNT2-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GDF3-
-
-
-
6Amp-
GDF9-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GDPD3-
-
-
-
3Gain-
GEMIN5-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFOD1-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFRAL-
-
-
-
1Loss-
GIGYF2-
-
-
-
1Loss-
GIN1-
-
-
-
1Loss-
GINM1-
-
-
-
1Loss-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJB7-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GJE1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLO1-
-
-
-
1Loss-
GLP1R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLYATL3-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMDS-
-
-
-
1Loss-
GMNN-
-
-
-
1Loss-
GMPPA-
-
-
-
1Loss-
GMPR-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNB3-
-
-
-
10Amp-
GNE-
-
-
-
1Loss-
GNL1-
-
-
-
1Loss-
GNMT-
-
-
-
1Loss-
GNPDA1-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GOPC-
-
-
-
1Loss-
GPANK1-
-
-
-
1Loss-
GPBAR1-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPLD1p.D275E
Missense
SNP
0.129
1Loss-
GPR1-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR158-
-
-
-
1Loss-
GPR162-
-
-
-
10Amp-
GPR31-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR55-
-
-
-
1Loss-
GPR6-
-
-
-
1Loss-
GPR63-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR83-
-
-
-
1Loss-
GPRC6A-
-
-
-
1Loss-
GPSM3-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX5-
-
-
-
1Loss-
GPX6-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRHPR-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRIA4-
-
-
-
1Loss-
GRIK2-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRM1-
-
-
-
1Loss-
GRM4-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSC-
-
-
-
1Loss-
GSG1L-
-
-
-
3Gain-
GSKIP-
-
-
-
1Loss-
GSTA1-
-
-
-
1Loss-
GSTA2-
-
-
-
1Loss-
GSTA3-
-
-
-
1Loss-
GSTA4-
-
-
-
1Loss-
GSTA5-
-
-
-
1Loss-
GTF2A1-
-
-
-
3Gain-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H4-
-
-
-
1Loss-
GTF2H5-
-
-
-
1Loss-
GTF3C1-
-
-
-
3Gain-
GTF3C3-
-
-
-
1Loss-
GTF3C6-
-
-
-
1Loss-
GTPBP10p.L164F
Missense
SNP
0.156
2--
GTPBP2-
-
-
-
1Loss-
GTPBP4-
-
-
-
1Loss-
GUCA1A-
-
-
-
1Loss-
GUCA1B-
-
-
-
1Loss-
GUCY1A2-
-
-
-
1Loss-
GUCY2C-
-
-
-
10Amp-
GVQW2-
-
-
-
1Loss-
GZMA-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H2AFJ-
-
-
-
10Amp-
H2AFX-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACD4-
-
-
-
1Loss-
HACE1-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HCRTR2-
-
-
-
1Loss-
HDAC2-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDDC2-
-
-
-
1Loss-
HDGFL1-
-
-
-
1Loss-
HDLBP-
-
-
-
1Loss-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECW2-
-
-
-
1Loss-
HEG1p.S305P
Missense
SNP
0.138
2--
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HES6-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEY2-
-
-
-
1Loss-
HFE-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HINFP-
-
-
-
1Loss-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIRIP3-
-
-
-
3Gain-
HIST1H1A-
-
-
-
1Loss-
HIST1H1B-
-
-
-
1Loss-
HIST1H1C-
-
-
-
1Loss-
HIST1H1D-
-
-
-
1Loss-
HIST1H1E-
-
-
-
1Loss-
HIST1H1T-
-
-
-
1Loss-
HIST1H2AA-
-
-
-
1Loss-
HIST1H2AB-
-
-
-
1Loss-
HIST1H2AC-
-
-
-
1Loss-
HIST1H2AD-
-
-
-
1Loss-
HIST1H2AE-
-
-
-
1Loss-
HIST1H2AG-
-
-
-
1Loss-
HIST1H2AH-
-
-
-
1Loss-
HIST1H2AI-
-
-
-
1Loss-
HIST1H2AJ-
-
-
-
1Loss-
HIST1H2AK-
-
-
-
1Loss-
HIST1H2AL-
-
-
-
1Loss-
HIST1H2AM-
-
-
-
1Loss-
HIST1H2BA-
-
-
-
1Loss-
HIST1H2BB-
-
-
-
1Loss-
HIST1H2BC-
-
-
-
1Loss-
HIST1H2BD-
-
-
-
1Loss-
HIST1H2BE-
-
-
-
1Loss-
HIST1H2BF-
-
-
-
1Loss-
HIST1H2BG-
-
-
-
1Loss-
HIST1H2BH-
-
-
-
1Loss-
HIST1H2BI-
-
-
-
1Loss-
HIST1H2BJ-
-
-
-
1Loss-
HIST1H2BK-
-
-
-
1Loss-
HIST1H2BL-
-
-
-
1Loss-
HIST1H2BM-
-
-
-
1Loss-
HIST1H2BN-
-
-
-
1Loss-
HIST1H2BO-
-
-
-
1Loss-
HIST1H3A-
-
-
-
1Loss-
HIST1H3B-
-
-
-
1Loss-
HIST1H3C-
-
-
-
1Loss-
HIST1H3D-
-
-
-
1Loss-
HIST1H3E-
-
-
-
1Loss-
HIST1H3F-
-
-
-
1Loss-
HIST1H3G-
-
-
-
1Loss-
HIST1H3H-
-
-
-
1Loss-
HIST1H3I-
-
-
-
1Loss-
HIST1H3J-
-
-
-
1Loss-
HIST1H4A-
-
-
-
1Loss-
HIST1H4B-
-
-
-
1Loss-
HIST1H4C-
-
-
-
1Loss-
HIST1H4D-
-
-
-
1Loss-
HIST1H4E-
-
-
-
1Loss-
HIST1H4F-
-
-
-
1Loss-
HIST1H4G-
-
-
-
1Loss-
HIST1H4H-
-
-
-
1Loss-
HIST1H4I-
-
-
-
1Loss-
HIST1H4J-
-
-
-
1Loss-
HIST1H4K-
-
-
-
1Loss-
HIST1H4L-
-
-
-
1Loss-
HIST4H4-
-
-
-
10Amp-
HIVEP1-
-
-
-
1Loss-
HIVEP2-
-
-
-
1Loss-
HJURP-
-
-
-
1Loss-
HLA-A-
-
-
-
1Loss-
HLA-B-
-
-
-
1Loss-
HLA-C-
-
-
-
1Loss-
HLA-DMA-
-
-
-
1Loss-
HLA-DMB-
-
-
-
1Loss-
HLA-DOA-
-
-
-
1Loss-
HLA-DOB-
-
-
-
1Loss-
HLA-DPA1-
-
-
-
1Loss-
HLA-DPB1p.L207M
Missense
SNP
0.054
1Loss-
HLA-DQA1-
-
-
-
1Loss-
HLA-DQA2-
-
-
-
1Loss-
HLA-DQB1-
-
-
-
1Loss-
HLA-DQB2-
-
-
-
1Loss-
HLA-DRA-
-
-
-
1Loss-
HLA-DRB1-
-
-
-
1Loss-
HLA-DRB5-
-
-
-
1Loss-
HLA-E-
-
-
-
1Loss-
HLA-F-
-
-
-
1Loss-
HLA-G-
-
-
-
1Loss-
HMBS-
-
-
-
1Loss-
HMGA1-
-
-
-
1Loss-
HMGCLL1-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGN3-
-
-
-
1Loss-
HMGN4-
-
-
-
1Loss-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HNRNPA0-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HRCT1-
-
-
-
1Loss-
HRH1-
-
-
-
3Gain-
HS3ST4-
-
-
-
8Amp-
HS3ST5-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD17B8-
-
-
-
1Loss-
HSD3B7-
-
-
-
3Gain-
HSF2-
-
-
-
1Loss-
HSP90AA1-
-
-
-
1Loss-
HSP90AB1-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPA1A-
-
-
-
1Loss-
HSPA1B-
-
-
-
1Loss-
HSPA1L-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
1Loss-
HSPD1-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1B-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HUS1B-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IBTK-
-
-
-
1Loss-
ICA1L-
-
-
-
1Loss-
ICK-
-
-
-
1Loss-
ICOS-
-
-
-
1Loss-
ID4-
-
-
-
1Loss-
IDH1p.R132L
Missense
SNP
0.922
1Loss-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IER3-
-
-
-
1Loss-
IFFO1-
-
-
-
10Amp-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT74-
-
-
-
1Loss-
IGDCC4p.V196I
Missense
SNP
0.060
2--
IGF2R-
-
-
-
1Loss-
IGFBP2-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGSF9B-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL11RA-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL17A-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17F-
-
-
-
1Loss-
IL17RC-
-
-
-
7Amp-
IL17RE-
-
-
-
7Amp-
IL18-
-
-
-
1Loss-
IL20RA-
-
-
-
1Loss-
IL21R-
-
-
-
3Gain-
IL22RA2-
-
-
-
1Loss-
IL25-
-
-
-
1Loss-
IL27-
-
-
-
3Gain-
IL2RA-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL4R-
-
-
-
3Gain-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6ST-
-
-
-
1Loss-
IL9-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMPG1-
-
-
-
1Loss-
INCENPp.M506T
p.E644D
Missense
Missense
SNP
SNP
0.068
0.100
2--
INF2-
-
-
-
1Loss-
ING4-
-
-
-
10Amp-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INO80D-
-
-
-
1Loss-
INO80E-
-
-
-
3Gain-
INPP5D-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
IP6K3-
-
-
-
1Loss-
IPCEF1-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IQCA1-
-
-
-
1Loss-
IQCG-
-
-
-
3Gain-
IQGAP2-
-
-
-
1Loss-
IQSEC1-
-
-
-
6Amp-
IQSEC3-
-
-
-
4Gain-
IRAK1BP1-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF4-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
ISL1-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ITFG2-
-
-
-
4Gain-
ITGA1-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA8-
-
-
-
1Loss-
ITGAD-
-
-
-
3Gain-
ITGAL-
-
-
-
3Gain-
ITGAM-
-
-
-
3Gain-
ITGAX-
-
-
-
3Gain-
ITGB1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH5-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
ITPK1-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPR3-
-
-
-
1Loss-
IYD-
-
-
-
1Loss-
IZUMO1R-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAGN1-
-
-
-
7Amp-
JAK2-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JARID2-
-
-
-
1Loss-
JCAD-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
JRKL-
-
-
-
1Loss-
KAAG1-
-
-
-
1Loss-
KANK1-
-
-
-
1Loss-
KANSL1L-
-
-
-
1Loss-
KAT8-
-
-
-
3Gain-
KATNA1-
-
-
-
1Loss-
KBTBD3-
-
-
-
1Loss-
KCNA1-
-
-
-
6Amp-
KCNA5-
-
-
-
6Amp-
KCNA6-
-
-
-
6Amp-
KCNG4p.G325R
Missense
SNP
0.052
2--
KCNJ1-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ5-
-
-
-
1Loss-
KCNK16-
-
-
-
1Loss-
KCNK17-
-
-
-
1Loss-
KCNK5-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNQ5-
-
-
-
1Loss-
KCNV2p.L533V
Missense
SNP
0.088
1Loss-
KCTD13-
-
-
-
3Gain-
KCTD16-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD20p.S171T
Missense
SNP
0.105
1Loss-
KDELC2-
-
-
-
1Loss-
KDM1B-
-
-
-
1Loss-
KDM3B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM5A-
-
-
-
4Gain-
KDM6Ap.T726K
Missense
SNP
0.066
NDND-
KDM8-
-
-
-
3Gain-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KHDRBS2-
-
-
-
1Loss-
KHNYN-
-
-
-
1Loss-
KIAA0319-
-
-
-
1Loss-
KIAA0408-
-
-
-
1Loss-
KIAA0556-
-
-
-
3Gain-
KIAA0825-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1217-
-
-
-
1Loss-
KIAA1549p.R617G
Missense
SNP
0.120
2--
KIAA1586-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIF13A-
-
-
-
1Loss-
KIF1A-
-
-
-
1Loss-
KIF1BPp.G66S
Missense
SNP
0.055
2--
KIF20A-
-
-
-
1Loss-
KIF22-
-
-
-
3Gain-
KIF24-
-
-
-
1Loss-
KIF25-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF27p.I213V
Missense
SNP
0.057
2--
KIF2A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF5B-
-
-
-
1Loss-
KIF6-
-
-
-
1Loss-
KIFC1-
-
-
-
1Loss-
KIN-
-
-
-
1Loss-
KIRREL3-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLC4-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC3-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL31-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KLRB1-
-
-
-
6Amp-
KLRF1-
-
-
-
6Amp-
KLRG1-
-
-
-
6Amp-
KMT2A-
-
-
-
1Loss-
KPNA5-
-
-
-
1Loss-
KRT19p.A60G
Missense
SNP
0.076
2--
L3MBTL3-
-
-
-
1Loss-
LAG3-
-
-
-
10Amp-
LAMA2-
-
-
-
1Loss-
LAMA4-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LAT-
-
-
-
3Gain-
LATS1-
-
-
-
1Loss-
LAYN-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCMT1-
-
-
-
8Amp-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEMD2-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGSN-
-
-
-
1Loss-
LHFPL2-
-
-
-
1Loss-
LHFPL4-
-
-
-
7Amp-
LHFPL5-
-
-
-
1Loss-
LIN28B-
-
-
-
1Loss-
LINGO2-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LMBRD1-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMLN2-
-
-
-
1Loss-
LMNB1-
-
-
-
1Loss-
LNPEP-
-
-
-
1Loss-
LOX-
-
-
-
1Loss-
LPA-
-
-
-
1Loss-
LPAR5-
-
-
-
10Amp-
LPCAT3-
-
-
-
10Amp-
LRCH3-
-
-
-
3Gain-
LRFN2-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRRC1-
-
-
-
1Loss-
LRRC19-
-
-
-
1Loss-
LRRC23-
-
-
-
10Amp-
LRRC3B-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC73-
-
-
-
1Loss-
LRRN1-
-
-
-
1Loss-
LRRTM2-
-
-
-
1Loss-
LRTM2-
-
-
-
4Gain-
LSM11-
-
-
-
1Loss-
LSM2-
-
-
-
1Loss-
LST1-
-
-
-
1Loss-
LTA-
-
-
-
1Loss-
LTB-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBR-
-
-
-
10Amp-
LTV1-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LVRN-
-
-
-
1Loss-
LY6G5B-
-
-
-
1Loss-
LY6G5C-
-
-
-
1Loss-
LY6G6C-
-
-
-
1Loss-
LY6G6D-
-
-
-
1Loss-
LY6G6E-
-
-
-
1Loss-
LY6G6F-
-
-
-
1Loss-
LY6G6F-LY6G6D-
-
-
-
1Loss-
LY86-
-
-
-
1Loss-
LYRM2-
-
-
-
1Loss-
LYRM4-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYZL1p.Q108P
Missense
SNP
0.069
1Loss-
LYZL2-
-
-
-
1Loss-
M6PR-
-
-
-
6Amp-
MAB21L4-
-
-
-
1Loss-
MAD2L1BP-
-
-
-
1Loss-
MAGEB3p.I112T
Missense
SNP
0.062
NDND-
MAIP1-
-
-
-
1Loss-
MAK-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MAML2-
-
-
-
1Loss-
MAN1A1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP2p.R423K
Missense
SNP
0.071
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
1Loss-
MAP3K8-
-
-
-
1Loss-
MAP7-
-
-
-
1Loss-
MAPK13-
-
-
-
1Loss-
MAPK14-
-
-
-
1Loss-
MAPK3-
-
-
-
3Gain-
MAPK4p.R545C
Missense
SNP
0.550
2--
MARCH3-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCKS-
-
-
-
1Loss-
MARK3-
-
-
-
1Loss-
MARS2-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MAS1L-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MASTL-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MAZ-
-
-
-
3Gain-
MBLAC2p.P155S
Missense
SNP
0.054
1Loss-
MBOAT1-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCCD1-
-
-
-
1Loss-
MCHR2-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCM10-
-
-
-
1Loss-
MCM3-
-
-
-
1Loss-
MCM9-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MCUR1-
-
-
-
1Loss-
MDC1-
-
-
-
1Loss-
MDFI-
-
-
-
1Loss-
MDGA1-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
MDN1-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
MEA1-
-
-
-
1Loss-
MED17-
-
-
-
1Loss-
MED20-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEIG1-
-
-
-
1Loss-
MELK-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEP1A-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL24-
-
-
-
1Loss-
METTL3-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP5-
-
-
-
6Amp-
MFF-
-
-
-
1Loss-
MFRP-
-
-
-
1Loss-
MFSD4B-
-
-
-
1Loss-
MGP-
-
-
-
10Amp-
MICA-
-
-
-
1Loss-
MICAL1-
-
-
-
1Loss-
MICB-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MINDY3-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLF2-
-
-
-
10Amp-
MLIP-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MLN-
-
-
-
1Loss-
MMP14-
-
-
-
1Loss-
MMS22L-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOB4-
-
-
-
1Loss-
MOCS1-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOG-
-
-
-
1Loss-
MOK-
-
-
-
1Loss-
MORC1p.S767N
Missense
SNP
0.057
2--
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPIG6B-
-
-
-
1Loss-
MPP4-
-
-
-
1Loss-
MPP7-
-
-
-
1Loss-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRAP2-
-
-
-
1Loss-
MRC1-
-
-
-
1Loss-
MRE11-
-
-
-
1Loss-
MREG-
-
-
-
1Loss-
MROH2A-
-
-
-
1Loss-
MRPL14-
-
-
-
1Loss-
MRPL18-
-
-
-
1Loss-
MRPL2-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL51-
-
-
-
10Amp-
MRPL52-
-
-
-
1Loss-
MRPS10-
-
-
-
1Loss-
MRPS18A-
-
-
-
1Loss-
MRPS18B-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRS2-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSH5-
-
-
-
1Loss-
MSH5-SAPCD1-
-
-
-
1Loss-
MSMP-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTCH1-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTFR2-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTMR14-
-
-
-
7Amp-
MTMR2-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTO1-
-
-
-
1Loss-
MTPAP-
-
-
-
1Loss-
MTREX-
-
-
-
1Loss-
MTRF1L-
-
-
-
1Loss-
MTX3-
-
-
-
1Loss-
MUC12p.R1165P
Missense
SNP
0.267
2--
MUC17p.V3607L
Missense
SNP
0.128
2--
MUC21-
-
-
-
1Loss-
MUC22-
-
-
-
1Loss-
MUCL3-
-
-
-
1Loss-
MUT-
-
-
-
1Loss-
MVP-
-
-
-
3Gain-
MYB-
-
-
-
1Loss-
MYCT1-
-
-
-
1Loss-
MYH3p.A1192T
Missense
SNP
0.068
2--
MYH6p.A1130T
Missense
SNP
0.207
1Loss-
MYH7-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYLIP-
-
-
-
1Loss-
MYLK4-
-
-
-
1Loss-
MYLPF-
-
-
-
3Gain-
MYMX-
-
-
-
1Loss-
MYO1B-
-
-
-
1Loss-
MYO3A-
-
-
-
1Loss-
MYO6-
-
-
-
1Loss-
MYORG-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
NABP1-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NANOG-
-
-
-
6Amp-
NANOGNB-
-
-
-
6Amp-
NBEAL1-
-
-
-
1Loss-
NCAM1-
-
-
-
1Loss-
NCAPD2-
-
-
-
10Amp-
NCAPD3-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCL-
-
-
-
1Loss-
NCOA7-
-
-
-
1Loss-
NCR2-
-
-
-
1Loss-
NCR3-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDRG2-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA9-
-
-
-
6Amp-
NDUFAF2-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFB1-
-
-
-
1Loss-
NDUFB6-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NEBL-
-
-
-
1Loss-
NECAP1-
-
-
-
6Amp-
NECTIN1-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEDD9-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NELFE-
-
-
-
1Loss-
NELL2p.R180C
Missense
SNP
0.059
2--
NET1-
-
-
-
1Loss-
NEU1-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEUROG1-
-
-
-
1Loss-
NFATC2IP-
-
-
-
3Gain-
NFATC4-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFKBIE-
-
-
-
1Loss-
NFKBIL1-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NFX1-
-
-
-
1Loss-
NFYA-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLRC1-
-
-
-
1Loss-
NHSL1-
-
-
-
1Loss-
NID1p.Q1246R
Missense
SNP
0.062
2--
NIF3L1-
-
-
-
1Loss-
NINJ2-
-
-
-
4Gain-
NIPAL4-
-
-
-
1Loss-
NKAIN2-
-
-
-
1Loss-
NKAPD1-
-
-
-
1Loss-
NKAPL-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRX1-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NMT2-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NOL6-
-
-
-
1Loss-
NOL7-
-
-
-
1Loss-
NOP2-
-
-
-
10Amp-
NOP58-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOTCH4p.S244L
Missense
SNP
0.081
1Loss-
NOVA1-
-
-
-
1Loss-
NOX3-
-
-
-
1Loss-
NPAT-
-
-
-
1Loss-
NPIPB11-
-
-
-
3Gain-
NPIPB12-
-
-
-
3Gain-
NPIPB13-
-
-
-
3Gain-
NPPC-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NQO2-
-
-
-
1Loss-
NR2E1-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP2-
-
-
-
4Gain-
NRL-
-
-
-
1Loss-
NRM-
-
-
-
1Loss-
NRN1-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRSN1-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSMCE1-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NT5DC1-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NTF3-
-
-
-
10Amp-
NTM-
-
-
-
1Loss-
NUDCD2-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUDT3-
-
-
-
1Loss-
NUDT5-
-
-
-
1Loss-
NUP153-
-
-
-
1Loss-
NUP43-
-
-
-
1Loss-
NUPR1-
-
-
-
3Gain-
NUS1-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NYAP2-
-
-
-
3Gain-
NYNRIN-
-
-
-
1Loss-
OAF-
-
-
-
1Loss-
OARD1-
-
-
-
1Loss-
OBSL1-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
OGFRL1-
-
-
-
1Loss-
OGG1-
-
-
-
7Amp-
OLAH-
-
-
-
1Loss-
OLIG3-
-
-
-
1Loss-
OOEP-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPN5-
-
-
-
1Loss-
OPRM1-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10C1-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10S1p.K93R
p.G63S
Missense
Missense
SNP
SNP
0.099
0.053
1Loss-
OR10T2p.C98Y
p.F95L
p.F65L
Missense
Missense
Missense
SNP
SNP
SNP
0.104
0.119
0.158
2--
OR11A1-
-
-
-
1Loss-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR12D2-
-
-
-
1Loss-
OR12D3-
-
-
-
1Loss-
OR13J1-
-
-
-
1Loss-
OR14J1-
-
-
-
1Loss-
OR2A4-
-
-
-
1Loss-
OR2B2-
-
-
-
1Loss-
OR2B3-
-
-
-
1Loss-
OR2B6-
-
-
-
1Loss-
OR2H1-
-
-
-
1Loss-
OR2H2-
-
-
-
1Loss-
OR2J1-
-
-
-
1Loss-
OR2J2-
-
-
-
1Loss-
OR2J3-
-
-
-
1Loss-
OR2S2-
-
-
-
1Loss-
OR2W1-
-
-
-
1Loss-
OR4D5-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5V1-
-
-
-
1Loss-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6J1-
-
-
-
1Loss-
OR6M1-
-
-
-
1Loss-
OR6N2p.V280I
Missense
SNP
0.112
2--
OR6S1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
ORAI3-
-
-
-
3Gain-
ORC2-
-
-
-
1Loss-
ORC3-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSMRp.H187Q
Missense
SNP
0.055
2--
OSTM1-
-
-
-
1Loss-
OTOS-
-
-
-
1Loss-
OTP-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
P3H3-
-
-
-
10Amp-
P4HA2-
-
-
-
1Loss-
PABPN1-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAGR1-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAK1IP1-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PANX1-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAQR6p.G118V
Missense
SNP
0.071
2--
PAQR8-
-
-
-
1Loss-
PARD3-
-
-
-
1Loss-
PARD3B-
-
-
-
1Loss-
PARP11-
-
-
-
4Gain-
PARP2-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PAX5-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBX2-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14p.S350L
Missense
SNP
0.069
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCK2-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCSK1-
-
-
-
1Loss-
PCSK7-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PDCD1-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE6H-
-
-
-
10Amp-
PDE7B-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDSS2-
-
-
-
1Loss-
PDZD3-
-
-
-
1Loss-
PECR-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PEX3-
-
-
-
1Loss-
PEX5-
-
-
-
10Amp-
PEX6-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN6-
-
-
-
1Loss-
PFKFB3-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PGAP1-
-
-
-
1Loss-
PGBD1-
-
-
-
1Loss-
PGC-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGK2-
-
-
-
1Loss-
PGM3-
-
-
-
1Loss-
PGR-
-
-
-
1Loss-
PHACTR1-
-
-
-
1Loss-
PHACTR2-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHB2-
-
-
-
10Amp-
PHC1-
-
-
-
6Amp-
PHF1-
-
-
-
1Loss-
PHF10-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHF3-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHKG2-
-
-
-
3Gain-
PHLDB1-
-
-
-
1Loss-
PHYH-
-
-
-
1Loss-
PI16-
-
-
-
1Loss-
PIANP-
-
-
-
10Amp-
PID1-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIGZ-
-
-
-
3Gain-
PIH1D2-
-
-
-
1Loss-
PIK3C2G-
-
-
-
6Amp-
PIK3R1-
-
-
-
1Loss-
PIKFYVEp.S1033A
Missense
SNP
0.086
1Loss-
PIM1-
-
-
-
1Loss-
PIP4K2A-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PIWIL4-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKHD1p.I3905N
Missense
SNP
0.087
1Loss-
PKIB-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PLA2G7-
-
-
-
1Loss-
PLAA-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLBD1-
-
-
-
10Amp-
PLCD4-
-
-
-
1Loss-
PLCL1-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLEKHG1-
-
-
-
1Loss-
PLEKHG6-
-
-
-
10Amp-
PLEKHM3-
-
-
-
1Loss-
PLET1-
-
-
-
1Loss-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN3p.I56V
Missense
SNP
0.098
2--
PLK2-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLXDC2-
-
-
-
1Loss-
PM20D2-
-
-
-
1Loss-
PNISR-
-
-
-
1Loss-
PNKD-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA1-
-
-
-
1Loss-
PNRC1-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
POLH-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLR1C-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POM121L2-
-
-
-
1Loss-
POPDC3-
-
-
-
1Loss-
POTEG-
-
-
-
1Loss-
POTEM-
-
-
-
1Loss-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU3F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F1-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
PPARD-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPIL1-
-
-
-
1Loss-
PPIL3-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPP1R10-
-
-
-
1Loss-
PPP1R11-
-
-
-
1Loss-
PPP1R13B-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R18-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R3Ap.D905Y
p.R883S
Missense
Missense
SNP
SNP
0.135
0.132
2--
PPP1R3E-
-
-
-
1Loss-
PPP1R3G-
-
-
-
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP1R9Ap.R1039Q
Missense
SNP
0.115
2--
PPP2CA-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R5C-
-
-
-
1Loss-
PPP2R5D-
-
-
-
1Loss-
PPP4C-
-
-
-
3Gain-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPT2-
-
-
-
1Loss-
PPT2-EGFL8-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PRDM1-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PREP-
-
-
-
1Loss-
PRICKLE4-
-
-
-
1Loss-
PRIM2-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKCQ-
-
-
-
1Loss-
PRKN-
-
-
-
1Loss-
PRL-
-
-
-
1Loss-
PRMT5-
-
-
-
1Loss-
PRMT8-
-
-
-
4Gain-
PROB1-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF4B-
-
-
-
1Loss-
PRPH2-
-
-
-
1Loss-
PRR14-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRR26-
-
-
-
1Loss-
PRR3-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRC2A-
-
-
-
1Loss-
PRRT1-
-
-
-
1Loss-
PRRT2-
-
-
-
3Gain-
PRRT3-
-
-
-
7Amp-
PRSS16-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS35-
-
-
-
1Loss-
PRSS36-
-
-
-
3Gain-
PRSS53-
-
-
-
3Gain-
PRSS56-
-
-
-
1Loss-
PRSS8-
-
-
-
3Gain-
PRTFDC1-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSMB1-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMB8-
-
-
-
1Loss-
PSMB9-
-
-
-
1Loss-
PSMD1-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSMG4-
-
-
-
1Loss-
PSORS1C1p.P133L
Missense
SNP
0.083
1Loss-
PSORS1C2-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTCHD3-
-
-
-
1Loss-
PTCHD4-
-
-
-
1Loss-
PTCRA-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTK7-
-
-
-
1Loss-
PTMA-
-
-
-
1Loss-
PTMS-
-
-
-
10Amp-
PTP4A1-
-
-
-
1Loss-
PTPN6-
-
-
-
10Amp-
PTPRD-
-
-
-
1Loss-
PTPRK-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRO-
-
-
-
10Amp-
PTS-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PTTG1IPp.A87T
Missense
SNP
0.059
2--
PUM3-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PXDC1-
-
-
-
1Loss-
PXDN-
-
-
-
1Loss-
PXT1-
-
-
-
1Loss-
PYCARD-
-
-
-
3Gain-
PYDC1-
-
-
-
3Gain-
PZP-
-
-
-
6Amp-
QKI-
-
-
-
1Loss-
QPRT-
-
-
-
3Gain-
QRSL1-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB23-
-
-
-
1Loss-
RAB2B-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB44-
-
-
-
1Loss-
RABEP2-
-
-
-
3Gain-
RABGGTA-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD50-
-
-
-
1Loss-
RAD51AP1-
-
-
-
6Amp-
RAD52-
-
-
-
4Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAMACL-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANBP9-
-
-
-
1Loss-
RAPGEF6-
-
-
-
1Loss-
RAPH1-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RBM17-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM24-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM46p.Y88H
Missense
SNP
0.493
2--
RBM7-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL3p.R43Q
Missense
SNP
0.081
NDND-
RBP5-
-
-
-
10Amp-
RCAN2-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RD3L-
-
-
-
1Loss-
RDX-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECK-
-
-
-
1Loss-
RECQLp.C414Y
Missense
SNP
0.055
2--
REEP2-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
RELL2-
-
-
-
1Loss-
REM2-
-
-
-
1Loss-
REPS1-
-
-
-
1Loss-
RERG-
-
-
-
10Amp-
RESP18-
-
-
-
1Loss-
RETREG2-
-
-
-
1Loss-
REV3L-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFPL4B-
-
-
-
1Loss-
RFTN2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX6-
-
-
-
1Loss-
RGL2-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGS17-
-
-
-
1Loss-
RGS7BP-
-
-
-
1Loss-
RHAG-
-
-
-
1Loss-
RHBDD1-
-
-
-
1Loss-
RHNO1-
-
-
-
4Gain-
RHOBTB3-
-
-
-
1Loss-
RIC1-
-
-
-
1Loss-
RIMKLB-
-
-
-
6Amp-
RIMS1-
-
-
-
1Loss-
RIN3-
-
-
-
1Loss-
RING1-
-
-
-
1Loss-
RIOK1-
-
-
-
1Loss-
RIOK2-
-
-
-
1Loss-
RIPK1-
-
-
-
1Loss-
RIPK3-
-
-
-
1Loss-
RIPOR2-
-
-
-
1Loss-
RIPPLY2-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH1-
-
-
-
1Loss-
RNASET2-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF144A-
-
-
-
1Loss-
RNF144B-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF146-
-
-
-
1Loss-
RNF17p.N1110K
Missense
SNP
0.062
2--
RNF180-
-
-
-
1Loss-
RNF182-
-
-
-
1Loss-
RNF212B-
-
-
-
1Loss-
RNF214-
-
-
-
1Loss-
RNF217-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNF39-
-
-
-
1Loss-
RNF40-
-
-
-
3Gain-
RNF5-
-
-
-
1Loss-
RNF8-
-
-
-
1Loss-
RNGTT-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROS1-
-
-
-
1Loss-
RPE-
-
-
-
1Loss-
RPF2-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPL10A-
-
-
-
1Loss-
RPL32-
-
-
-
6Amp-
RPL35A-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPL7L1-
-
-
-
1Loss-
RPP21-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPP38-
-
-
-
1Loss-
RPP40-
-
-
-
1Loss-
RPS10-
-
-
-
1Loss-
RPS10-NUDT3-
-
-
-
1Loss-
RPS12-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS18-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS7-
-
-
-
1Loss-
RPUSD3-
-
-
-
7Amp-
RPUSD4-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RREB1-
-
-
-
1Loss-
RRP36-
-
-
-
1Loss-
RSAD2-
-
-
-
1Loss-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
1Loss-
RSPH9-
-
-
-
1Loss-
RSPO3-
-
-
-
1Loss-
RSU1-
-
-
-
1Loss-
RTL1-
-
-
-
1Loss-
RTN4IP1-
-
-
-
1Loss-
RTP5-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUFY4-
-
-
-
1Loss-
RUNX2-
-
-
-
1Loss-
RUSC2-
-
-
-
1Loss-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RXRB-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SAMD3-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SAPCD1-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SAYSD1-
-
-
-
1Loss-
SBK1-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCGN-
-
-
-
1Loss-
SCML4-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCNN1A-
-
-
-
10Amp-
SCUBE3-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SDHAF4-
-
-
-
1Loss-
SDHD-
-
-
-
1Loss-
SDR39U1-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC61A2-
-
-
-
1Loss-
SEC63-
-
-
-
1Loss-
SEL1L-
-
-
-
3Gain-
SEMA3Gp.R91W
Missense
SNP
0.432
2--
SEMA6A-
-
-
-
1Loss-
SENP5-
-
-
-
3Gain-
SENP6-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPHS2-
-
-
-
3Gain-
SEPT1-
-
-
-
3Gain-
SEPT2-
-
-
-
1Loss-
SEPT8-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11p.E230A
Missense
SNP
0.061
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB1-
-
-
-
1Loss-
SERPINB6-
-
-
-
1Loss-
SERPINB9-
-
-
-
1Loss-
SESN1-
-
-
-
1Loss-
SESN3-
-
-
-
1Loss-
SETD1A-
-
-
-
3Gain-
SETD3-
-
-
-
1Loss-
SETD5-
-
-
-
10Amp-
SETD9-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6L2-
-
-
-
3Gain-
SF3B1-
-
-
-
1Loss-
SF3B5-
-
-
-
1Loss-
SFMBT2-
-
-
-
1Loss-
SFT2D1-
-
-
-
1Loss-
SFTA2-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGF29-
-
-
-
3Gain-
SGK1-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B1-
-
-
-
3Gain-
SH3BGRL2-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SH3YL1-
-
-
-
1Loss-
SHB-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIDT2-
-
-
-
1Loss-
SIGMAR1-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SIRT5-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SKIDA1-
-
-
-
1Loss-
SKIV2L-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC16A10-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC17A1-
-
-
-
1Loss-
SLC17A2-
-
-
-
1Loss-
SLC17A3-
-
-
-
1Loss-
SLC17A4-
-
-
-
1Loss-
SLC17A5-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC22A1p.G465R
Missense
SNP
0.109
1Loss-
SLC22A16-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A23-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC22A7-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC25A2-
-
-
-
1Loss-
SLC25A27-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A46-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A8-
-
-
-
1Loss-
SLC27A6-
-
-
-
1Loss-
SLC29A1-
-
-
-
1Loss-
SLC2A12-
-
-
-
1Loss-
SLC2A14-
-
-
-
6Amp-
SLC2A3-
-
-
-
6Amp-
SLC30A5-
-
-
-
1Loss-
SLC35A1-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35B2-
-
-
-
1Loss-
SLC35B3-
-
-
-
1Loss-
SLC35D3-
-
-
-
1Loss-
SLC35F1-
-
-
-
1Loss-
SLC35F2-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A10-
-
-
-
1Loss-
SLC39A12-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A7-
-
-
-
1Loss-
SLC39A8p.A391T
Missense
SNP
0.067
2--
SLC44A4-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC5A2-
-
-
-
3Gain-
SLC6A1-
-
-
-
3Gain-
SLC6A11-
-
-
-
3Gain-
SLC6A12-
-
-
-
4Gain-
SLC6A13-
-
-
-
4Gain-
SLC6A7-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLCO2A1p.A396T
Missense
SNP
0.052
2--
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLITRK2p.V201I
Missense
SNP
0.076
NDND-
SLN-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLX1A-
-
-
-
3Gain-
SLX1B-
-
-
-
3Gain-
SMAD5-
-
-
-
1Loss-
SMAP1-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMCO3-
-
-
-
10Amp-
SMCO4-
-
-
-
1Loss-
SMIM13-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM29-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMLR1-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SNAP91-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SNED1-
-
-
-
1Loss-
SNORC-
-
-
-
1Loss-
SNRNP48-
-
-
-
1Loss-
SNRPC-
-
-
-
1Loss-
SNTG2-
-
-
-
1Loss-
SNX14-
-
-
-
1Loss-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX3-
-
-
-
1Loss-
SNX9-
-
-
-
1Loss-
SOBP-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA3-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOX11-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
1Loss-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SPA17-
-
-
-
1Loss-
SPAAR-
-
-
-
1Loss-
SPACA1-
-
-
-
1Loss-
SPAG16-
-
-
-
1Loss-
SPAG6-
-
-
-
1Loss-
SPAG8-
-
-
-
1Loss-
SPARC-
-
-
-
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA31A1-
-
-
-
1Loss-
SPATA31A3-
-
-
-
1Loss-
SPATA31A6-
-
-
-
1Loss-
SPATA31A7-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATA7p.D2N
Missense
SNP
0.052
2--
SPATA9-
-
-
-
1Loss-
SPATS1p.G8R
Missense
SNP
0.063
1Loss-
SPATS2L-
-
-
-
1Loss-
SPDEF-
-
-
-
1Loss-
SPEF2p.A904V
Missense
SNP
0.058
2--
SPEG-
-
-
-
1Loss-
SPG7p.R688Q
Missense
SNP
0.058
2--
SPHKAP-
-
-
-
1Loss-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPN-
-
-
-
3Gain-
SPNS1-
-
-
-
3Gain-
SPOCK1-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPSB2-
-
-
-
10Amp-
SPZ1-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRCAP-
-
-
-
3Gain-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRF-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRPK1-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRSF12-
-
-
-
1Loss-
SRSF3-
-
-
-
1Loss-
SRSF8-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSR1-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA6-
-
-
-
1Loss-
STAM-
-
-
-
1Loss-
STARD4-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17B-
-
-
-
1Loss-
STK19-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK32A-
-
-
-
1Loss-
STK36-
-
-
-
1Loss-
STK38-
-
-
-
1Loss-
STMND1-
-
-
-
1Loss-
STOML2-
-
-
-
1Loss-
STON2-
-
-
-
3Gain-
STRADB-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STUB1p.K22M
Missense
SNP
0.470
2--
STX11-
-
-
-
1Loss-
STX1B-
-
-
-
3Gain-
STX4-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
SUCLG2p.Y404H
Missense
SNP
0.062
2--
SULT1A1-
-
-
-
3Gain-
SULT1A2-
-
-
-
3Gain-
SULT1A3-
-
-
-
3Gain-
SULT1A4-
-
-
-
3Gain-
SUMF1-
-
-
-
1Loss-
SUMO1-
-
-
-
1Loss-
SUMO4-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUPT3H-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SVIL-
-
-
-
1Loss-
SYCP2Lp.V94I
Missense
SNP
0.088
1Loss-
SYNCRIP-
-
-
-
1Loss-
SYNE1p.R3492C
Missense
SNP
0.064
1Loss-
SYNE3-
-
-
-
1Loss-
SYNGAP1-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TADA3-
-
-
-
7Amp-
TAF11-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF1L-
-
-
-
1Loss-
TAF3-
-
-
-
1Loss-
TAF7-
-
-
-
1Loss-
TAF8-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAOK2-
-
-
-
3Gain-
TAP1-
-
-
-
1Loss-
TAP2-
-
-
-
1Loss-
TAPBP-
-
-
-
1Loss-
TAPBPL-
-
-
-
10Amp-
TBC1D10B-
-
-
-
3Gain-
TBC1D22B-
-
-
-
1Loss-
TBC1D32-
-
-
-
1Loss-
TBC1D7-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCC-
-
-
-
1Loss-
TBCEL-
-
-
-
1Loss-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX18-
-
-
-
1Loss-
TBX6-
-
-
-
3Gain-
TBXT-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCERG1-
-
-
-
1Loss-
TCF19-
-
-
-
1Loss-
TCF21-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCP11-
-
-
-
1Loss-
TCTE1-
-
-
-
1Loss-
TCTE3-
-
-
-
1Loss-
TCTN3p.T65P
Missense
SNP
0.058
2--
TDP2-
-
-
-
1Loss-
TDRD6p.K1432R
Missense
SNP
0.090
1Loss-
TDRD9-
-
-
-
1Loss-
TEAD3-
-
-
-
1Loss-
TEAD4-
-
-
-
4Gain-
TECPR2-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TEP1p.V2214I
Missense
SNP
0.056
1Loss-
TESK1-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX22-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX52-
-
-
-
4Gain-
TFAP2A-
-
-
-
1Loss-
TFAP2B-
-
-
-
1Loss-
TFAP2D-
-
-
-
1Loss-
TFB1M-
-
-
-
1Loss-
TFEB-
-
-
-
1Loss-
TGFB1I1-
-
-
-
3Gain-
TGFBI-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THBS2-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THEMIS-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THNSL1-
-
-
-
1Loss-
THTPA-
-
-
-
1Loss-
THUMPD3-
-
-
-
10Amp-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAM2-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGAR-
-
-
-
6Amp-
TIGD6-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TINAG-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIRAP-
-
-
-
1Loss-
TJAP1-
-
-
-
1Loss-
TLN1-
-
-
-
1Loss-
TM4SF20-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMEFF2-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM14A-
-
-
-
1Loss-
TMEM14B-
-
-
-
1Loss-
TMEM14C-
-
-
-
1Loss-
TMEM151B-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM170B-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM173-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM18-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM198-
-
-
-
1Loss-
TMEM200A-
-
-
-
1Loss-
TMEM215-
-
-
-
1Loss-
TMEM217-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM219-
-
-
-
3Gain-
TMEM225-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM236-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM242-
-
-
-
1Loss-
TMEM244p.E86G
Missense
SNP
0.100
1Loss-
TMEM25-
-
-
-
1Loss-
TMEM251-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM30A-
-
-
-
1Loss-
TMEM40-
-
-
-
6Amp-
TMEM45B-
-
-
-
1Loss-
TMEM63B-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TNF-
-
-
-
1Loss-
TNFAIP2-
-
-
-
1Loss-
TNFAIP3-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
10Amp-
TNFRSF21-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNS1-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOMM5-
-
-
-
1Loss-
TOMM6-
-
-
-
1Loss-
TOPBP1p.S817L
Missense
SNP
0.060
2--
TOPORS-
-
-
-
1Loss-
TOX4-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TPBG-
-
-
-
1Loss-
TPD52L1-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPI1-
-
-
-
10Amp-
TPM2-
-
-
-
1Loss-
TPMT-
-
-
-
1Loss-
TPO-
-
-
-
1Loss-
TPPP2-
-
-
-
1Loss-
TRAF3-
-
-
-
1Loss-
TRAF3IP1-
-
-
-
1Loss-
TRAF3IP2-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAM2-
-
-
-
1Loss-
TRAPPC12-
-
-
-
1Loss-
TRAPPC13-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRDMT1-
-
-
-
1Loss-
TRDN-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TREM1-
-
-
-
1Loss-
TREM2-
-
-
-
1Loss-
TREML1-
-
-
-
1Loss-
TREML2-
-
-
-
1Loss-
TREML4-
-
-
-
1Loss-
TRERF1-
-
-
-
1Loss-
TRIM10-
-
-
-
1Loss-
TRIM15-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM26-
-
-
-
1Loss-
TRIM27-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM31-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM38-
-
-
-
1Loss-
TRIM39-
-
-
-
1Loss-
TRIM39-RPP21-
-
-
-
1Loss-
TRIM40-
-
-
-
1Loss-
TRIM72-
-
-
-
3Gain-
TRIOBPp.F1187L
Missense
SNP
0.062
2--
TRIP11-
-
-
-
1Loss-
TRIP12-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT11-
-
-
-
1Loss-
TRMT61A-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TRPC6-
-
-
-
1Loss-
TRPC7-
-
-
-
1Loss-
TRPM8-
-
-
-
1Loss-
TRPV6p.R179H
Missense
SNP
0.421
2--
TSHR-
-
-
-
3Gain-
TSLP-
-
-
-
1Loss-
TSPAN9-
-
-
-
4Gain-
TSPO2-
-
-
-
1Loss-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSTD3-
-
-
-
1Loss-
TTBK1-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC12-
-
-
-
1Loss-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTK-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTLL3-
-
-
-
7Amp-
TTLL4-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB-
-
-
-
1Loss-
TUBB2A-
-
-
-
1Loss-
TUBB2B-
-
-
-
1Loss-
TUBB8-
-
-
-
1Loss-
TUBE1-
-
-
-
1Loss-
TUFM-
-
-
-
3Gain-
TULP1-
-
-
-
1Loss-
TULP3-
-
-
-
4Gain-
TULP4-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TWIST2-
-
-
-
1Loss-
TXLNB-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC5-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBASH3B-
-
-
-
1Loss-
UBD-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2J1-
-
-
-
1Loss-
UBE2R2-
-
-
-
1Loss-
UBE3D-
-
-
-
1Loss-
UBE4A-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBR2-
-
-
-
1Loss-
UBR7-
-
-
-
1Loss-
UCMA-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UFL1-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UHRF1BP1-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK4p.N796S
p.S348G
Missense
Missense
SNP
SNP
0.054
0.059
2--
UNC13B-
-
-
-
1Loss-
UNC5CL-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC80-
-
-
-
1Loss-
UNC93A-
-
-
-
1Loss-
UPB1p.R124C
Missense
SNP
0.068
2--
UPF2-
-
-
-
1Loss-
UPK2-
-
-
-
1Loss-
UQCC2-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
UROSp.V171G
Missense
SNP
0.052
2--
USH2Ap.D644V
Missense
SNP
0.059
2--
USP2-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP37p.S663T
Missense
SNP
0.132
1Loss-
USP40-
-
-
-
1Loss-
USP45-
-
-
-
1Loss-
USP49-
-
-
-
1Loss-
USP5-
-
-
-
10Amp-
USP6NL-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTRN-
-
-
-
1Loss-
VAMP1-
-
-
-
10Amp-
VARS-
-
-
-
1Loss-
VARS2-
-
-
-
1Loss-
VCANp.K1516R
p.F2301Y
Missense
Missense
SNP
SNP
0.090
0.144
1Loss-
VCP-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VEGFA-
-
-
-
1Loss-
VGLL2-
-
-
-
1Loss-
VIL1-
-
-
-
1Loss-
VIM-
-
-
-
1Loss-
VIP-
-
-
-
1Loss-
VKORC1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VPS11-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS52-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA7-
-
-
-
1Loss-
VWC2L-
-
-
-
1Loss-
VWF-
-
-
-
10Amp-
WAC-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WASF1-
-
-
-
1Loss-
WBP11-
-
-
-
10Amp-
WDR12-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR27-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR46-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WISP3-
-
-
-
1Loss-
WLSp.V463I
Missense
SNP
0.060
2--
WNK1-
-
-
-
4Gain-
WNT10A-
-
-
-
1Loss-
WNT5B-
-
-
-
4Gain-
WNT6-
-
-
-
1Loss-
WNT8A-
-
-
-
1Loss-
WRNIP1-
-
-
-
1Loss-
WTAP-
-
-
-
1Loss-
WWOXp.L216V
Missense
SNP
0.059
2--
XPO5-
-
-
-
1Loss-
XPO6-
-
-
-
3Gain-
XRCC3-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRCC5-
-
-
-
1Loss-
XYLT1p.A115S
Missense
SNP
0.056
2--
YAP1-
-
-
-
1Loss-
YIPF3-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YME1L1-
-
-
-
1Loss-
YPEL3-
-
-
-
3Gain-
YTHDC2-
-
-
-
1Loss-
YY1-
-
-
-
1Loss-
Z84488.2-
-
-
-
1Loss-
ZANp.L1012R
Missense
SNP
0.099
2--
ZBED3-
-
-
-
1Loss-
ZBED8-
-
-
-
1Loss-
ZBED9-
-
-
-
1Loss-
ZBTB12-
-
-
-
1Loss-
ZBTB16-
-
-
-
1Loss-
ZBTB2-
-
-
-
1Loss-
ZBTB22-
-
-
-
1Loss-
ZBTB24-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB9-
-
-
-
1Loss-
ZC2HC1B-
-
-
-
1Loss-
ZC3H12C-
-
-
-
1Loss-
ZC3H12D-
-
-
-
1Loss-
ZCCHC10-
-
-
-
1Loss-
ZCCHC7-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDBF2p.A1940T
Missense
SNP
0.052
1Loss-
ZDHHC14-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZFAND2B-
-
-
-
1Loss-
ZFAND3-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFP57-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZG16-
-
-
-
3Gain-
ZKSCAN2-
-
-
-
8Amp-
ZKSCAN3-
-
-
-
1Loss-
ZKSCAN4-
-
-
-
1Loss-
ZKSCAN8-
-
-
-
1Loss-
ZMAT2-
-
-
-
1Loss-
ZMYND11-
-
-
-
1Loss-
ZNF142-
-
-
-
1Loss-
ZNF165-
-
-
-
1Loss-
ZNF184-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF267-
-
-
-
3Gain-
ZNF292-
-
-
-
1Loss-
ZNF300-
-
-
-
1Loss-
ZNF311-
-
-
-
1Loss-
ZNF318-
-
-
-
1Loss-
ZNF322-
-
-
-
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF384-
-
-
-
10Amp-
ZNF385D-
-
-
-
1Loss-
ZNF391-
-
-
-
1Loss-
ZNF438-
-
-
-
1Loss-
ZNF451-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF48-
-
-
-
3Gain-
ZNF608-
-
-
-
1Loss-
ZNF629-
-
-
-
3Gain-
ZNF646-
-
-
-
3Gain-
ZNF658-
-
-
-
1Loss-
ZNF668-
-
-
-
3Gain-
ZNF688-
-
-
-
3Gain-
ZNF689-
-
-
-
3Gain-
ZNF720-
-
-
-
3Gain-
ZNF747-
-
-
-
3Gain-
ZNF76-
-
-
-
1Loss-
ZNF764-
-
-
-
3Gain-
ZNF768-
-
-
-
3Gain-
ZNF771-
-
-
-
3Gain-
ZNF785-
-
-
-
3Gain-
ZNF789p.W66*
Nonsense
SNP
0.100
2--
ZNF839-
-
-
-
1Loss-
ZNF843-
-
-
-
3Gain-
ZNRD1-
-
-
-
1Loss-
ZPR1-
-
-
-
1Loss-
ZSCAN12-
-
-
-
1Loss-
ZSCAN16-
-
-
-
1Loss-
ZSCAN23-
-
-
-
1Loss-
ZSCAN26-
-
-
-
1Loss-
ZSCAN31-
-
-
-
1Loss-
ZSCAN9-
-
-
-
1Loss-
ZSWIM6-
-
-
-
1Loss-
ZUP1-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-