PDMR-128128~338-R~L43MZ4-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
A4GNT-
-
-
-
3Gain-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AASS-
-
-
-
3Gain-
ABCA13-
-
-
-
3Gain-
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
3Gain-
ABCC5-
-
-
-
3Gain-
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABCF1-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABCF3-
-
-
-
3Gain-
ABHD10-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABHD13-
-
-
-
3Gain-
ABHD14A-
-
-
-
3Gain-
ABHD14A-ACY1-
-
-
-
3Gain-
ABHD14B-
-
-
-
3Gain-
ABHD16A-
-
-
-
3Gain-
ABHD5-
-
-
-
3Gain-
ABHD6-
-
-
-
3Gain-
ABI3BP-
-
-
-
3Gain-
ABLIM3-
-
-
-
1Loss-
ABRACL-
-
-
-
1Loss-
ABT1-
-
-
-
3Gain-
ABTB1-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002996.1-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC006059.2-
-
-
-
3Gain-
AC006064.6-
-
-
-
3Gain-
AC006254.1-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC008575.1-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC010132.3-
-
-
-
3Gain-
AC010197.2-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011604.2-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC022384.1-
-
-
-
3Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026316.5-
-
-
-
3Gain-
AC026398.1-
-
-
-
1Loss-
AC026786.1-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC068631.2-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC090004.1-
-
-
-
3Gain-
AC091959.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC092647.5-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC096887.1-
-
-
-
3Gain-
AC097104.1-
-
-
-
3Gain-
AC097634.4-
-
-
-
3Gain-
AC097636.1-
-
-
-
3Gain-
AC097637.1-
-
-
-
3Gain-
AC098650.1-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
3Gain-
AC104452.1-
-
-
-
3Gain-
AC104472.3-
-
-
-
3Gain-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC109583.3-
-
-
-
3Gain-
AC112128.1-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC117378.1-
-
-
-
3Gain-
AC117457.1-
-
-
-
3Gain-
AC131160.1-
-
-
-
3Gain-
AC137834.1-
-
-
-
3Gain-
AC142391.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC244517.10-
-
-
-
1Loss-
ACAA1-
-
-
-
3Gain-
ACACB-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACAD11-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACAD9-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACAP2-
-
-
-
3Gain-
ACAT2-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACKR2-
-
-
-
3Gain-
ACKR4-
-
-
-
3Gain-
ACOT13-
-
-
-
3Gain-
ACOX2-
-
-
-
3Gain-
ACPP-
-
-
-
3Gain-
ACRBP-
-
-
-
3Gain-
ACRV1-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM4-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTBP9-
-
-
-
NDNDACTBP9--ACTG1
ACTG1-
-
-
-
2-ACTBP9--ACTG1
ACTL6A-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR6-
-
-
-
3Gain-
ACTR8-
-
-
-
3Gain-
ACTRT3-
-
-
-
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVR2B-
-
-
-
3Gain-
ACVRL1-
-
-
-
3Gain-
ACY1-
-
-
-
3Gain-
ADAM18p.G667E
Missense
SNP
0.611
2--
ADAM19-
-
-
-
1Loss-
ADAM22-
-
-
-
3Gain-
ADAM7p.G355E
Missense
SNP
0.551
2--
ADAMTS15-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS20p.Q1449*
Nonsense
SNP
0.654
3Gain-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADAT2-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY5-
-
-
-
3Gain-
ADCY6-
-
-
-
3Gain-
ADCY8p.G896E
Missense
SNP
0.474
2--
ADCYAP1R1-
-
-
-
3Gain-
ADGB-
-
-
-
1Loss-
ADGRB3-
-
-
-
1Loss-
ADGRD1-
-
-
-
3Gain-
ADGRG6-
-
-
-
1Loss-
ADGRG7-
-
-
-
3Gain-
ADIPOQ-
-
-
-
3Gain-
ADIPOR2-
-
-
-
3Gain-
ADPRH-
-
-
-
3Gain-
ADPRHL1-
-
-
-
3Gain-
ADRA1B-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADTRP-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AEBP2-
-
-
-
3Gain-
AFAP1L1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AFPp.G231E
Missense
SNP
0.460
2--
AGAP2-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGER-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO3p.Q442H
Missense
SNP
0.443
2--
AGPAT1-
-
-
-
3Gain-
AGPAT4-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHI1-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHSG-
-
-
-
3Gain-
AICDA-
-
-
-
3Gain-
AIF1-
-
-
-
3Gain-
AIG1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AK3-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP3-
-
-
-
3Gain-
AKAP7-
-
-
-
1Loss-
AKAP9-
-
-
-
3Gain-
AKIRIN2-
-
-
-
1Loss-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AL021546.1-
-
-
-
3Gain-
AL021997.3-
-
-
-
3Gain-
AL024498.2-
-
-
-
3Gain-
AL031315.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
3GainAL031777.3--PPP2CB
AL049697.1-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL132671.2-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
3Gain-
AL589666.1-
-
-
-
1Loss-
AL645922.1-
-
-
-
3Gain-
AL645941.2-
-
-
-
3Gain-
AL662899.1-
-
-
-
3Gain-
AL662899.2-
-
-
-
3Gain-
AL669918.1-
-
-
-
3Gain-
ALAS1-
-
-
-
3Gain-
ALCAM-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH5A1-
-
-
-
3Gain-
ALDH7A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALG10-
-
-
-
3Gain-
ALG10Bp.R416C
Missense
SNP
0.363
3Gain-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALKBH2-
-
-
-
3Gain-
ALKBH4-
-
-
-
3Gain-
ALPK2p.P1269S
Missense
SNP
0.487
2--
ALS2CL-
-
-
-
3Gain-
ALX1-
-
-
-
3Gain-
AMD1-
-
-
-
1Loss-
AMDHD1-
-
-
-
3Gain-
AMHR2-
-
-
-
3Gain-
AMIGO2-
-
-
-
3Gain-
AMIGO3-
-
-
-
3Gain-
AMN1-
-
-
-
3Gain-
AMOTL2-
-
-
-
3Gain-
AMPH-
-
-
-
3Gain-
AMT-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANAPC13-
-
-
-
3Gain-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANHX-
-
-
-
3Gain-
ANK3p.E2355K
p.R686K
p.R412*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.545
0.481
0.605
2--
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKLE2-
-
-
-
3GainUBB--ANKLE2
ANKMY2-
-
-
-
3Gain-
ANKRD10-
-
-
-
3Gain-
ANKRD13A-
-
-
-
3Gain-
ANKRD28-
-
-
-
3Gain-
ANKRD33-
-
-
-
3Gain-
ANKRD52-
-
-
-
3Gain-
ANKRD6-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKS1A-
-
-
-
3Gain-
ANKS1B-
-
-
-
3Gain-
ANKUB1-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO10-
-
-
-
3Gain-
ANO2p.D322N
Missense
SNP
0.643
3Gain-
ANO4-
-
-
-
3Gain-
ANO6-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
ANXA6-
-
-
-
1Loss-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP2M1-
-
-
-
3Gain-
AP3S1-
-
-
-
1Loss-
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APAF1-
-
-
-
3Gain-
APBB1IPp.G279E
Missense
SNP
0.567
2--
APBB3-
-
-
-
1Loss-
APCp.E2089Q
Missense
SNP
0.987
1Loss-
APEH-
-
-
-
3Gain-
APLP2-
-
-
-
1Loss-
APOBEC1-
-
-
-
3Gain-
APOD-
-
-
-
3Gain-
APOF-
-
-
-
3Gain-
APOLD1-
-
-
-
3Gain-
APOM-
-
-
-
3Gain-
APPL1-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
AQP1-
-
-
-
3Gain-
AQP2-
-
-
-
3Gain-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
ARAP3-
-
-
-
1Loss-
ARF3-
-
-
-
3Gain-
ARF4-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGEF3-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARGLU1-
-
-
-
3Gain-
ARHGAP18-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP31-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP6p.G319E
Missense
SNP
1.000
NDND-
ARHGAP9-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF25-
-
-
-
3Gain-
ARHGEF26-
-
-
-
3Gain-
ARHGEF3-
-
-
-
3Gain-
ARHGEF35-
-
-
-
3Gain-
ARHGEF37-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARHGEF7-
-
-
-
3Gain-
ARID1B-
-
-
-
1Loss-
ARID2-
-
-
-
3Gain-
ARIH2-
-
-
-
3Gain-
ARIH2OS-
-
-
-
3Gain-
ARL1-
-
-
-
3Gain-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL14EPL-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL6-
-
-
-
3Gain-
ARL6IP4-
-
-
-
3Gain-
ARL6IP5-
-
-
-
3Gain-
ARL8B-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARMC2-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARMH2-
-
-
-
3Gain-
ARMT1-
-
-
-
1Loss-
ARNTL2-
-
-
-
3Gain-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ARPC4-
-
-
-
3Gain-
ARPC4-TTLL3-
-
-
-
3Gain-
ARPP21-
-
-
-
3Gain-
ARSI-
-
-
-
1Loss-
ART4-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB14-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASB8-
-
-
-
3Gain-
ASCC3-
-
-
-
1Loss-
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASF1A-
-
-
-
1Loss-
ASIC1-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASTE1-
-
-
-
3Gain-
ASZ1-
-
-
-
3Gain-
ATAT1-
-
-
-
3Gain-
ATCAYp.E333K
Missense
SNP
0.511
2--
ATF1-
-
-
-
3Gain-
ATF6B-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG12-
-
-
-
1Loss-
ATG3-
-
-
-
3Gain-
ATG5-
-
-
-
1Loss-
ATG7-
-
-
-
3Gain-
ATG9B-
-
-
-
3Gain-
ATN1-
-
-
-
3Gain-
ATOX1-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11A-
-
-
-
3Gain-
ATP11B-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1A1-
-
-
-
2-RNA5-8SN2--ATP1A1
ATP1B3-
-
-
-
3Gain-
ATP23-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP2B2-
-
-
-
3Gain-
ATP2C1-
-
-
-
3Gain-
ATP4B-
-
-
-
3Gain-
ATP5F1B-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0E1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G2-
-
-
-
3Gain-
ATP6V1G2-DDX39B-
-
-
-
3Gain-
ATP8A1p.S829F
Missense
SNP
0.515
2--
ATR-
-
-
-
3Gain-
ATRIP-
-
-
-
3Gain-
ATXN1-
-
-
-
3Gain-
ATXN2-
-
-
-
3Gain-
ATXN7-
-
-
-
3Gain-
ATXN7L1-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVIL-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AZGP1-
-
-
-
3Gain-
AZI2-
-
-
-
3Gain-
B3GALNT1-
-
-
-
3Gain-
B3GALT4-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
1Loss-
B3GNT4-
-
-
-
3Gain-
B3GNT5-
-
-
-
3Gain-
B4GALNT1-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
B4GALT4-
-
-
-
3Gain-
BACH2-
-
-
-
1Loss-
BAG6-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BAK1-
-
-
-
3Gain-
BANK1p.E626K
Missense
SNP
0.565
2--
BAP1-
-
-
-
3Gain-
BARX2-
-
-
-
1Loss-
BAZ1B-
-
-
-
3Gain-
BAZ2A-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BBX-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAT1-
-
-
-
3Gain-
BCDIN3D-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCKDHB-
-
-
-
1Loss-
BCL2L14-
-
-
-
3Gain-
BCL6-
-
-
-
3Gain-
BCL7A-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BCLAF1p.R158K
Missense
SNP
0.373
1Loss-
BDH1-
-
-
-
3Gain-
BEND3-
-
-
-
1Loss-
BEST3-
-
-
-
3Gain-
BET1-
-
-
-
3Gain-
BFSP2-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BHLHE40-
-
-
-
3Gain-
BHLHE41-
-
-
-
3Gain-
BICD1-
-
-
-
3Gain-
BICDL1-
-
-
-
3Gain-
BIN2-
-
-
-
3Gain-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLID-
-
-
-
1Loss-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BLOC1S5-
-
-
-
3Gain-
BLOC1S5-TXNDC5-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BMP6-
-
-
-
3Gain-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BOC-
-
-
-
3Gain-
BOD1-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BORCS5-
-
-
-
3Gain-
BPGM-
-
-
-
3Gain-
BPHL-
-
-
-
3Gain-
BRAFp.V600K
Missense
MNP
0.693
3Gain-
BRAP-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD2-
-
-
-
3Gain-
BRD8-
-
-
-
1Loss-
BRI3-
-
-
-
3Gain-
BRI3BP-
-
-
-
3Gain-
BRK1-
-
-
-
3Gain-
BRPF1-
-
-
-
3Gain-
BSN-
-
-
-
3Gain-
BSX-
-
-
-
1Loss-
BTBD11-
-
-
-
3Gain-
BTD-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
BTLA-
-
-
-
3Gain-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
3Gain-
BTN3A1-
-
-
-
3Gain-
BTN3A2-
-
-
-
3Gain-
BTN3A3-
-
-
-
3Gain-
BTNL2-
-
-
-
3Gain-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BVES-
-
-
-
1Loss-
BZW2-
-
-
-
3Gain-
C11orf45-
-
-
-
1Loss-
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf4-
-
-
-
3Gain-
C12orf40-
-
-
-
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1orf106p.R333C
Missense
SNP
0.508
NDND-
C1QL4-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C2-
-
-
-
3Gain-
C2CD5-
-
-
-
3Gain-
C3AR1-
-
-
-
3Gain-
C3orf14-
-
-
-
3Gain-
C3orf18-
-
-
-
3Gain-
C3orf20-
-
-
-
3Gain-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf38-
-
-
-
3Gain-
C3orf49-
-
-
-
3Gain-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf62-
-
-
-
3Gain-
C3orf67-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf84-
-
-
-
3Gain-
C3orf85-
-
-
-
3Gain-
C4A-
-
-
-
3Gain-
C4B-
-
-
-
3Gain-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C6orf10-
-
-
-
3Gain-
C6orf106-
-
-
-
3Gain-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf136-
-
-
-
3Gain-
C6orf15p.P297S
Missense
SNP
0.318
3Gain-
C6orf163-
-
-
-
1Loss-
C6orf201-
-
-
-
3Gain-
C6orf203-
-
-
-
1Loss-
C6orf47-
-
-
-
3Gain-
C6orf48-
-
-
-
3Gain-
C6orf52-
-
-
-
3Gain-
C6orf58-
-
-
-
1Loss-
C6orf62-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CABP1-
-
-
-
3Gain-
CACNA1C-
-
-
-
3Gain-
CACNA1D-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
3Gain-
CACNA2D3-
-
-
-
3Gain-
CACNA2D4-
-
-
-
3Gain-
CACNB3-
-
-
-
3Gain-
CADM2-
-
-
-
3Gain-
CADPS-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CAGE1-
-
-
-
3Gain-
CALCOCO1-
-
-
-
3Gain-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK1-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMK2N2-
-
-
-
3Gain-
CAMK4-
-
-
-
1Loss-
CAMKK2-
-
-
-
3Gain-
CAMKV-
-
-
-
3Gain-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
3Gain-
CAND1-
-
-
-
3Gain-
CAND2-
-
-
-
3Gain-
CAP2-
-
-
-
3Gain-
CAPN7-
-
-
-
3Gain-
CAPRIN2-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARMIL1-
-
-
-
3Gain-
CARS2-
-
-
-
3Gain-
CASC1-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASP8AP2-
-
-
-
1Loss-
CASR-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATSPER3-
-
-
-
1Loss-
CATSPERBp.G501R
Missense
SNP
0.482
2--
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3-
-
-
-
3Gain-
CBLB-
-
-
-
3Gain-
CBLL1-
-
-
-
3Gain-
CBWD1-
-
-
-
1Loss-
CBX3-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CCDC112-
-
-
-
1Loss-
CCDC12-
-
-
-
3Gain-
CCDC126-
-
-
-
3Gain-
CCDC13-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC14-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC15-
-
-
-
1Loss-
CCDC168-
-
-
-
3Gain-
CCDC170-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC174-
-
-
-
3Gain-
CCDC184-
-
-
-
3Gain-
CCDC191-
-
-
-
3Gain-
CCDC28A-
-
-
-
1Loss-
CCDC36-
-
-
-
3Gain-
CCDC38-
-
-
-
3Gain-
CCDC39-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
3Gain-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC66-
-
-
-
3Gain-
CCDC69-
-
-
-
1Loss-
CCDC71-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC73p.G106E
Missense
SNP
0.450
2--
CCDC77-
-
-
-
3Gain-
CCDC80-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCER1-
-
-
-
3Gain-
CCHCR1-
-
-
-
3Gain-
CCK-
-
-
-
3Gain-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNC-
-
-
-
1Loss-
CCND2-
-
-
-
3Gain-
CCNG1-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNT1-
-
-
-
3Gain-
CCR1-
-
-
-
3Gain-
CCR2-
-
-
-
3Gain-
CCR3-
-
-
-
3Gain-
CCR4-
-
-
-
3Gain-
CCR5-
-
-
-
3Gain-
CCR6p.R286*
Nonsense
SNP
1.000
1Loss-
CCR8-
-
-
-
3Gain-
CCR9-
-
-
-
3Gain-
CCRL2-
-
-
-
3Gain-
CCT2-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD109-
-
-
-
1Loss-
CD14-
-
-
-
1Loss-
CD163-
-
-
-
3Gain-
CD163L1p.W1277*
Nonsense
SNP
0.316
3Gain-
CD164-
-
-
-
1Loss-
CD1Ep.G152E
Missense
SNP
0.601
2--
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD24-
-
-
-
1Loss-
CD27-
-
-
-
3Gain-
CD274-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CD4-
-
-
-
3Gain-
CD47-
-
-
-
3Gain-
CD63-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD74-
-
-
-
1Loss-
CD80-
-
-
-
3Gain-
CD83-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD9-
-
-
-
3Gain-
CD96-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC16-
-
-
-
3Gain-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
3Gain-
CDC25C-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDCA3-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDCP1-
-
-
-
3Gain-
CDH9p.G45S
Missense
SNP
0.374
2--
CDHR3-
-
-
-
3Gain-
CDHR4-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK17-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK2-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDKAL1-
-
-
-
3Gain-
CDKL3-
-
-
-
1Loss-
CDKN1B-
-
-
-
3Gain-
CDKN2A-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDSN-
-
-
-
3Gain-
CDV3-
-
-
-
3Gain-
CDX1-
-
-
-
1Loss-
CDYL-
-
-
-
3Gain-
CELA1-
-
-
-
3Gain-
CELSR3-
-
-
-
3Gain-
CENPW-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP162-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP57L1-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP85L-
-
-
-
1Loss-
CEP97-
-
-
-
3Gain-
CER1-
-
-
-
1Loss-
CERS5-
-
-
-
3Gain-
CFAP100-
-
-
-
3Gain-
CFAP206-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP54-
-
-
-
3Gain-
CFAP69-
-
-
-
3Gain-
CFAP73-
-
-
-
3Gain-
CFB-
-
-
-
3Gain-
CFHR3p.N279S
Missense
SNP
0.565
2--
CFHR5p.D535N
Missense
SNP
0.481
2--
CFTR-
-
-
-
3Gain-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
1Loss-
CGGBP1-
-
-
-
3Gain-
CHAMP1-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
3Gain-
CHCHD6-
-
-
-
3Gain-
CHD4-
-
-
-
3Gain-
CHDH-
-
-
-
3Gain-
CHEK1-
-
-
-
1Loss-
CHFR-
-
-
-
3Gain-
CHL1p.S1196L
Missense
SNP
0.624
3Gain-
CHMP2B-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHPT1-
-
-
-
3Gain-
CHRD-
-
-
-
3Gain-
CHRM2-
-
-
-
3Gain-
CHST11-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CHST13-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CHSY3-
-
-
-
1Loss-
CIDEC-
-
-
-
3Gain-
CIP2A-
-
-
-
3Gain-
CISH-
-
-
-
3Gain-
CIT-
-
-
-
3Gain-
CITED2-
-
-
-
1Loss-
CKAP4-
-
-
-
3Gain-
CLASP2-
-
-
-
3Gain-
CLCN1-
-
-
-
3Gain-
CLCN2-
-
-
-
3Gain-
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN20-
-
-
-
1Loss-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDND1-
-
-
-
3Gain-
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC2L-
-
-
-
3Gain-
CLEC3B-
-
-
-
3Gain-
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC5A-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLGNp.D400N
Missense
SNP
0.312
2--
CLIC1-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLIP1-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLLU1OS-
-
-
-
3Gain-
CLMP-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLRN2p.R167Q
Missense
SNP
0.407
2--
CLSTN2-
-
-
-
3Gain-
CLSTN3-
-
-
-
3Gain-
CLVS2-
-
-
-
1Loss-
CMAS-
-
-
-
3Gain-
CMC1-
-
-
-
3Gain-
CMKLR1-
-
-
-
3Gain-
CMSS1-
-
-
-
3Gain-
CMTM6-
-
-
-
3Gain-
CMTM7-
-
-
-
3Gain-
CMTM8-
-
-
-
3Gain-
CNBP-
-
-
-
3Gain-
CNGB1p.S912F
Missense
SNP
0.459
2--
CNKSR3-
-
-
-
1Loss-
CNOT10-
-
-
-
3Gain-
CNOT2-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNR1-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN1-
-
-
-
3Gain-
CNTN3-
-
-
-
3Gain-
CNTN4-
-
-
-
3Gain-
CNTN6-
-
-
-
3Gain-
CNTNAP2-
-
-
-
3Gain-
CNTNAP5p.G826R
Missense
SNP
0.351
2--
COA1-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COG5-
-
-
-
3Gain-
COL10A1-
-
-
-
1Loss-
COL11A2-
-
-
-
3Gain-
COL12A1-
-
-
-
1Loss-
COL19A1-
-
-
-
1Loss-
COL1A2-
-
-
-
3Gain-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
3Gain-
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL4A5p.E1165K
Missense
SNP
1.000
NDND-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL7A1-
-
-
-
3Gain-
COL8A1-
-
-
-
3Gain-
COL9A1-
-
-
-
1Loss-
COLQ-
-
-
-
3Gain-
COMMD10-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COPS7A-
-
-
-
3Gain-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ3-
-
-
-
1Loss-
COQ5-
-
-
-
3Gain-
CORO1C-
-
-
-
3Gain-
COX14-
-
-
-
3Gain-
COX17-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
COX7A2-
-
-
-
1Loss-
CP-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPB1-
-
-
-
3Gain-
CPEB4-
-
-
-
1Loss-
CPED1p.R247C
Missense
SNP
0.334
3Gain-
CPM-
-
-
-
3Gain-
CPN2-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE8-
-
-
-
3Gain-
CPNE9-
-
-
-
3Gain-
CPOX-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CRACR2A-
-
-
-
3Gain-
CRADD-
-
-
-
3Gain-
CRBN-
-
-
-
3Gain-
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBL2-
-
-
-
3Gain-
CREBRF-
-
-
-
1Loss-
CRELD1-
-
-
-
3Gain-
CRHR2-
-
-
-
3Gain-
CRNN-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
3Gain-
CRY1-
-
-
-
3Gain-
CRYBG1-
-
-
-
1Loss-
CRYBG3-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CRYGS-
-
-
-
3Gain-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSMD1p.E604K
Missense
SNP
0.440
2--
CSMD3p.W228*
Nonsense
SNP
0.481
2--
CSNK1A1-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2B-
-
-
-
3Gain-
CSPG5-
-
-
-
3Gain-
CSRNP1-
-
-
-
3Gain-
CSRNP2-
-
-
-
3Gain-
CSRP2-
-
-
-
3Gain-
CSTA-
-
-
-
3Gain-
CT45A10p.R139Q
Missense
SNP
1.000
NDND-
CTAGE15-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE6-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTAGE9-
-
-
-
1Loss-
CTDSP2-
-
-
-
3Gain-
CTDSPL-
-
-
-
3Gain-
CTGF-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNB1-
-
-
-
3GainCTNNB1--RNA5-8SN2
CTSA-
-
-
-
2-RNA5-8SN2--CTSA
CTTNBP2-
-
-
-
3Gain-
CTXN3-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL4Ap.Q568*
Nonsense
SNP
0.286
3Gain-
CUTA-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CUX2-
-
-
-
3Gain-
CX3CR1-
-
-
-
3Gain-
CXCL14-
-
-
-
1Loss-
CXCR6-
-
-
-
3Gain-
CXXC5-
-
-
-
1Loss-
CYB561D2-
-
-
-
3Gain-
CYB5R4-
-
-
-
1Loss-
CYCS-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYLDp.L388F
Missense
SNP
0.473
2--
CYP1A1p.D436N
Missense
SNP
0.449
2--
CYP21A2-
-
-
-
3Gain-
CYP27B1-
-
-
-
3Gain-
CYP2C19p.E81K
Missense
SNP
0.525
2--
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP4F3p.P415S
Missense
SNP
0.488
2--
CYP51A1-
-
-
-
3Gain-
CYP8B1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
DACT2-
-
-
-
1Loss-
DAG1-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
3Gain-
DAO-
-
-
-
3Gain-
DAOA-
-
-
-
3Gain-
DAXX-
-
-
-
3Gain-
DAZAP2-
-
-
-
3Gain-
DAZL-
-
-
-
3Gain-
DBF4-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DBR1-
-
-
-
3Gain-
DBX2-
-
-
-
3Gain-
DCAF1-
-
-
-
3Gain-
DCAF4L2p.E247K
Missense
SNP
0.497
2--
DCANP1-
-
-
-
1Loss-
DCBLD1-
-
-
-
1Loss-
DCBLD2-
-
-
-
3Gain-
DCD-
-
-
-
3Gain-
DCDC1p.E445K
Missense
SNP
0.525
2--
DCDC2-
-
-
-
3Gain-
DCLK3-
-
-
-
3Gain-
DCN-
-
-
-
3Gain-
DCP1A-
-
-
-
3Gain-
DCP1B-
-
-
-
3Gain-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCTN2-
-
-
-
3Gain-
DCTN4-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
3Gain-
DDAH2-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDN-
-
-
-
3Gain-
DDO-
-
-
-
1Loss-
DDR1-
-
-
-
3Gain-
DDX11-
-
-
-
3Gain-
DDX23-
-
-
-
3Gain-
DDX25-
-
-
-
1Loss-
DDX39B-
-
-
-
3Gain-
DDX43-
-
-
-
1Loss-
DDX46-
-
-
-
1Loss-
DDX47-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DEF6-
-
-
-
3Gain-
DEK-
-
-
-
3Gain-
DELE1-
-
-
-
1Loss-
DENND2A-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENND5B-
-
-
-
3Gain-
DENND6A-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC4-
-
-
-
3Gain-
DERA-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DHFR2-
-
-
-
3Gain-
DHH-
-
-
-
3Gain-
DHX16-
-
-
-
3Gain-
DHX30-
-
-
-
3Gain-
DHX36-
-
-
-
3Gain-
DHX37-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIAPH1-
-
-
-
1Loss-
DIP2B-
-
-
-
3Gain-
DIRC2-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLEC1-
-
-
-
3Gain-
DLG1-
-
-
-
3Gain-
DLL1-
-
-
-
1Loss-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAC1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMXL1-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
3Gain-
DNAH10-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH12-
-
-
-
3Gain-
DNAH5p.S3132F
p.G920E
Missense
Missense
SNP
SNP
0.391
0.552
2--
DNAH6p.L3517F
Missense
SNP
0.532
2--
DNAJB11-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB8-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC10p.P586L
Missense
SNP
0.367
2--
DNAJC13-
-
-
-
3Gain-
DNAJC14-
-
-
-
3Gain-
DNAJC18-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC22-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNASE1-
-
-
-
3Gain-
DNASE1L3-
-
-
-
3Gain-
DND1-
-
-
-
1Loss-
DNM1L-
-
-
-
3Gain-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
3Gain-
DOCK4-
-
-
-
3Gain-
DOCK8-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DPH3-
-
-
-
3Gain-
DPP6-
-
-
-
3Gain-
DPPA2-
-
-
-
3Gain-
DPPA3-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPPA5-
-
-
-
1Loss-
DPY19L1-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DPYSL3-
-
-
-
1Loss-
DRAM1-
-
-
-
3Gain-
DRD3-
-
-
-
3Gain-
DSE-
-
-
-
1Loss-
DSP-
-
-
-
3Gain-
DTNAp.S713F
Missense
SNP
0.450
2--
DTNBP1-
-
-
-
3Gain-
DTWD2-
-
-
-
1Loss-
DTX1-
-
-
-
3Gain-
DTX2-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DTX3L-
-
-
-
3Gain-
DUS4L-
-
-
-
3Gain-
DUSP1-
-
-
-
1Loss-
DUSP16-
-
-
-
3Gain-
DUSP22-
-
-
-
3Gain-
DUSP27p.E835K
Missense
SNP
0.426
2--
DUSP6p.Q270H
Missense
SNP
0.240
3Gain-
DUSP7-
-
-
-
3Gain-
DVL3-
-
-
-
3Gain-
DXO-
-
-
-
3Gain-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
3Gain-
DYNLL1-
-
-
-
3Gain-
DYNLT1-
-
-
-
1Loss-
DYRK2-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
DYTNp.X162_splice
Splice_Site
SNP
0.464
2--
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
3Gain-
E2F3-
-
-
-
3Gain-
E2F7-
-
-
-
3Gain-
E4F1p.A385T
Missense
SNP
0.500
2--
EAF1-
-
-
-
3Gain-
EAF2-
-
-
-
3Gain-
EBF1-
-
-
-
1Loss-
EBLN2-
-
-
-
3Gain-
ECE2-
-
-
-
3Gain-
ECHDC1-
-
-
-
1Loss-
ECI2-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECT2-
-
-
-
3Gain-
ECT2L-
-
-
-
1Loss-
EDEM1-
-
-
-
3Gain-
EDN1-
-
-
-
3Gain-
EEA1-
-
-
-
3Gain-
EEF1A1-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1E1-
-
-
-
3Gain-
EEF1E1-BLOC1S5-
-
-
-
3Gain-
EEFSEC-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCAB9-
-
-
-
1Loss-
EFCC1-
-
-
-
3Gain-
EFHB-
-
-
-
3Gain-
EFNB2-
-
-
-
3Gain-
EGFL8-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGR1-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EHMT2-
-
-
-
3Gain-
EI24-
-
-
-
1Loss-
EID3-
-
-
-
3Gain-
EIF1B-
-
-
-
3Gain-
EIF2A-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2B1-
-
-
-
3Gain-
EIF2B5-
-
-
-
3Gain-
EIF2S3B-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF4A2-
-
-
-
3Gain-
EIF4B-
-
-
-
3Gain-
EIF4E3-
-
-
-
3Gain-
EIF4EBP3-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
EIF5A2-
-
-
-
3Gain-
ELAVL2-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELK3-
-
-
-
3Gain-
ELMO1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOVL2-
-
-
-
3Gain-
ELOVL4-
-
-
-
1Loss-
ELP6-
-
-
-
3Gain-
EMC3-
-
-
-
3Gain-
EMG1-
-
-
-
3Gain-
EML5p.R370C
Missense
SNP
0.498
2--
EMP1-
-
-
-
3Gain-
EN2-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENO2-
-
-
-
3Gain-
ENPEPp.E378K
p.S766L
Missense
Missense
SNP
SNP
0.600
0.462
2--
ENPP1-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP4p.D199N
Missense
SNP
0.516
2--
ENTPD3-
-
-
-
3Gain-
EOGT-
-
-
-
3Gain-
EOMES-
-
-
-
3Gain-
EP400-
-
-
-
3Gain-
EPB41L2-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA3-
-
-
-
3Gain-
EPHA6-
-
-
-
3Gain-
EPHA7-
-
-
-
1Loss-
EPHB1-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPM2A-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPS8-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
EQTN-
-
-
-
1Loss-
ERBB3-
-
-
-
3Gain-
ERC1-
-
-
-
3Gain-
ERC2p.E832K
p.E718K
Missense
Missense
SNP
SNP
0.386
0.320
3Gain-
ERCC5-
-
-
-
3Gain-
ERGIC1-
-
-
-
1Loss-
ERGIC2-
-
-
-
3Gain-
ERICH6-
-
-
-
3Gain-
ERMARD-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
3Gain-
ESAM-
-
-
-
1Loss-
ESPL1-
-
-
-
3Gain-
ESR1-
-
-
-
1Loss-
ESRP1p.T292I
Missense
SNP
0.533
2--
ESYT1-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ESYT3-
-
-
-
3Gain-
ETF1-
-
-
-
1Loss-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETS1-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
ETV6-
-
-
-
3Gain-
EVX1-
-
-
-
3Gain-
EXOC2-
-
-
-
3Gain-
EXOC4-
-
-
-
3Gain-
EXOG-
-
-
-
3Gain-
EXOSC7-
-
-
-
3Gain-
EYA4-
-
-
-
1Loss-
EZH1p.R557C
Missense
SNP
0.568
2--
EZH2-
-
-
-
3Gain-
EZR-
-
-
-
1Loss-
F10-
-
-
-
3Gain-
F13A1-
-
-
-
3Gain-
F5p.T149I
Missense
SNP
0.407
2--
F7-
-
-
-
3Gain-
FABP6-
-
-
-
1Loss-
FABP7-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAIM2-
-
-
-
3Gain-
FAM107A-
-
-
-
3Gain-
FAM114A2-
-
-
-
1Loss-
FAM117Bp.R235W
Missense
SNP
0.512
2--
FAM118B-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM126A-
-
-
-
3Gain-
FAM131A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM135A-
-
-
-
1Loss-
FAM13B-
-
-
-
1Loss-
FAM155A-
-
-
-
3Gain-
FAM162A-
-
-
-
3Gain-
FAM162B-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM184A-
-
-
-
1Loss-
FAM185A-
-
-
-
3Gain-
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM198A-
-
-
-
3Gain-
FAM19A1-
-
-
-
3Gain-
FAM19A2-
-
-
-
3Gain-
FAM19A4-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM208A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM217A-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM229B-
-
-
-
1Loss-
FAM234B-
-
-
-
3Gain-
FAM240A-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM3D-
-
-
-
3Gain-
FAM43A-
-
-
-
3Gain-
FAM50B-
-
-
-
3Gain-
FAM53C-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71C-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM83Ap.R153H
Missense
SNP
0.498
2--
FAM83Bp.E302K
Missense
SNP
0.480
2--
FAM8A1-
-
-
-
3Gain-
FAM92A-
-
-
-
1Loss-
FANCD2-
-
-
-
3Gain-
FANCD2OS-
-
-
-
3Gain-
FANCE-
-
-
-
3Gain-
FAR2-
-
-
-
3Gain-
FARS2-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAXC-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN2-
-
-
-
3Gain-
FBN2-
-
-
-
1Loss-
FBRSL1-
-
-
-
3Gain-
FBXL13-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
3Gain-
FBXL4-
-
-
-
1Loss-
FBXO21-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FBXO30-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO40-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO5-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
3Gain-
FBXW8-
-
-
-
3Gain-
FCARp.S35L
Missense
SNP
0.296
2--
FCHSD1-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEZ1-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FEZF2-
-
-
-
3Gain-
FGD4-
-
-
-
3Gain-
FGD5-
-
-
-
3Gain-
FGD6-
-
-
-
3Gain-
FGF1-
-
-
-
1Loss-
FGF12-
-
-
-
3Gain-
FGF14-
-
-
-
3Gain-
FGF18-
-
-
-
1Loss-
FGF23-
-
-
-
3Gain-
FGF6-
-
-
-
3Gain-
FGFR1OP-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FHIT-
-
-
-
3Gain-
FHL5-
-
-
-
1Loss-
FICD-
-
-
-
3Gain-
FIG4-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FILIP1-
-
-
-
1Loss-
FILIP1L-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FKBP5-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FKBPL-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLNB-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FMNL3-
-
-
-
3Gain-
FNDC1-
-
-
-
1Loss-
FNDC3B-
-
-
-
3Gain-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOXC1-
-
-
-
3Gain-
FOXF2-
-
-
-
3Gain-
FOXI1-
-
-
-
1Loss-
FOXJ2-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXK2p.R314C
Missense
SNP
0.422
2--
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXM1-
-
-
-
3Gain-
FOXN4-
-
-
-
3Gain-
FOXO3-
-
-
-
1Loss-
FOXP1-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FOXQ1-
-
-
-
3Gain-
FOXRED1-
-
-
-
1Loss-
FPGT-TNNI3Kp.E415K
Missense
SNP
0.391
2--
FREM1-
-
-
-
1Loss-
FRG2C-
-
-
-
3Gain-
FRK-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD4B-
-
-
-
3Gain-
FRS2-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSTL1-
-
-
-
3Gain-
FSTL4-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FYCO1-
-
-
-
3Gain-
FYN-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD10-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
G3BP1-
-
-
-
1Loss-
GAB3p.E79K
Missense
SNP
1.000
NDND-
GABARAPL1-
-
-
-
3Gain-
GABBR1-
-
-
-
3Gain-
GABRA1p.S271F
Missense
SNP
0.982
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GADL1-
-
-
-
3Gain-
GAL3ST4-
-
-
-
3Gain-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT15-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT6-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GAP43-
-
-
-
3Gain-
GAPDH-
-
-
-
3GainGAPDHP17--GAPDH
GAPDHP17-
-
-
-
NDNDGAPDHP17--GAPDH
GARS-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GAS6-
-
-
-
3Gain-
GATA2-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GBE1-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCM2-
-
-
-
3Gain-
GCN1-
-
-
-
3Gain-
GCNT2-
-
-
-
3Gain-
GCSAM-
-
-
-
3Gain-
GDF11-
-
-
-
3Gain-
GDF3-
-
-
-
3Gain-
GDF9-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFM1-
-
-
-
3Gain-
GFOD1-
-
-
-
3Gain-
GFRA3-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GHRL-
-
-
-
3Gain-
GHSR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GINM1-
-
-
-
1Loss-
GIT2-
-
-
-
3Gain-
GJA1-
-
-
-
1Loss-
GJA10-
-
-
-
1Loss-
GJB7-
-
-
-
1Loss-
GJC3-
-
-
-
3Gain-
GJE1-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLB1-
-
-
-
3Gain-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLI1-
-
-
-
3Gain-
GLI3-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIS3-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GLYATp.S249F
Missense
SNP
0.396
2--
GLYCTK-
-
-
-
3Gain-
GM2A-
-
-
-
1Loss-
GMDS-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GMNN-
-
-
-
3Gain-
GMPPB-
-
-
-
3Gain-
GMPR-
-
-
-
3Gain-
GMPS-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
3Gain-
GNAT1-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNB3-
-
-
-
3Gain-
GNB4-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GNL1-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNPTAB-
-
-
-
3Gain-
GNS-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGA4-
-
-
-
3Gain-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GOPC-
-
-
-
1Loss-
GORASP1-
-
-
-
3Gain-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPANK1-
-
-
-
3Gain-
GPC2-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPD1L-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPLD1-
-
-
-
3Gain-
GPN3-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR151-
-
-
-
1Loss-
GPR156-
-
-
-
3Gain-
GPR160-
-
-
-
3Gain-
GPR162-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR182-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR27-
-
-
-
3Gain-
GPR31-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR6-
-
-
-
1Loss-
GPR62-
-
-
-
3Gain-
GPR63-
-
-
-
1Loss-
GPR84-
-
-
-
3Gain-
GPR85-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GPRC6A-
-
-
-
1Loss-
GPSM3-
-
-
-
3Gain-
GPX1-
-
-
-
3Gain-
GPX3-
-
-
-
1Loss-
GPX5-
-
-
-
3Gain-
GPX6-
-
-
-
3Gain-
GRAMD1B-
-
-
-
1Loss-
GRAMD1C-
-
-
-
3Gain-
GRAMD2B-
-
-
-
1Loss-
GRASP-
-
-
-
3Gain-
GRB10-
-
-
-
3Gain-
GRIA1-
-
-
-
1Loss-
GRID2p.R768W
Missense
SNP
0.478
2--
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK2-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRIN2B-
-
-
-
3Gain-
GRIP1-
-
-
-
3Gain-
GRIP2-
-
-
-
3Gain-
GRK1-
-
-
-
3Gain-
GRK7-
-
-
-
3Gain-
GRM1-
-
-
-
1Loss-
GRM2-
-
-
-
3Gain-
GRM3-
-
-
-
3Gain-
GRM4-
-
-
-
3Gain-
GRM7-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GRPEL2-
-
-
-
1Loss-
GRTP1-
-
-
-
3Gain-
GRXCR1p.S220L
Missense
SNP
0.300
2--
GRXCR2-
-
-
-
1Loss-
GSAP-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSG1-
-
-
-
3Gain-
GSK3B-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GTF2E1-
-
-
-
3Gain-
GTF2H3-
-
-
-
3Gain-
GTF2H4-
-
-
-
3Gain-
GTF2H5-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C6-
-
-
-
1Loss-
GTPBP10-
-
-
-
3Gain-
GTPBP8-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GUCA1C-
-
-
-
3Gain-
GUCY1A2p.P313S
Missense
SNP
0.498
2--
GUCY2C-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GVQW2-
-
-
-
1Loss-
GXYLT1-
-
-
-
3Gain-
GXYLT2-
-
-
-
3Gain-
GYG1-
-
-
-
3Gain-
GYS2-
-
-
-
3Gain-
H1FNT-
-
-
-
3Gain-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFJ-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H2AFY-
-
-
-
1Loss-
H3F3C-
-
-
-
3Gain-
HACD2-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACE1-
-
-
-
1Loss-
HACL1-
-
-
-
3Gain-
HAL-
-
-
-
3Gain-
HAND1-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HBS1L-
-
-
-
1Loss-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCLS1-
-
-
-
3Gain-
HDAC11-
-
-
-
3Gain-
HDAC2-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC7-
-
-
-
3Gain-
HDAC9-
-
-
-
3Gain-
HDDC2-
-
-
-
1Loss-
HDGFL1-
-
-
-
3Gain-
HEBP1-
-
-
-
3Gain-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECTD4-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HEG1-
-
-
-
3Gain-
HELB-
-
-
-
3Gain-
HEMK1-
-
-
-
3Gain-
HEPACAM-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HEPN1-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HES1-
-
-
-
3Gain-
HESX1p.P37S
Missense
SNP
0.351
3Gain-
HEXB-
-
-
-
2-HEXB--HIST1H2AM
HEY2-
-
-
-
1Loss-
HFE-
-
-
-
3Gain-
HGD-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HHATL-
-
-
-
3Gain-
HHIPp.D431N
Missense
SNP
0.477
2--
HHLA2-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HID1p.D157N
Missense
SNP
0.483
2--
HIGD1C-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIP1-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIST1H1A-
-
-
-
3Gain-
HIST1H1B-
-
-
-
3Gain-
HIST1H1C-
-
-
-
3Gain-
HIST1H1D-
-
-
-
3Gain-
HIST1H1E-
-
-
-
3Gain-
HIST1H1T-
-
-
-
3Gain-
HIST1H2AA-
-
-
-
3Gain-
HIST1H2AB-
-
-
-
3Gain-
HIST1H2AC-
-
-
-
3Gain-
HIST1H2AD-
-
-
-
3Gain-
HIST1H2AE-
-
-
-
3Gain-
HIST1H2AG-
-
-
-
3Gain-
HIST1H2AH-
-
-
-
3Gain-
HIST1H2AI-
-
-
-
3Gain-
HIST1H2AJ-
-
-
-
3Gain-
HIST1H2AK-
-
-
-
3Gain-
HIST1H2AL-
-
-
-
3Gain-
HIST1H2AM-
-
-
-
3GainHEXB--HIST1H2AM
HIST1H2BA-
-
-
-
3Gain-
HIST1H2BB-
-
-
-
3Gain-
HIST1H2BC-
-
-
-
3Gain-
HIST1H2BD-
-
-
-
3Gain-
HIST1H2BE-
-
-
-
3Gain-
HIST1H2BF-
-
-
-
3Gain-
HIST1H2BG-
-
-
-
3Gain-
HIST1H2BH-
-
-
-
3Gain-
HIST1H2BI-
-
-
-
3Gain-
HIST1H2BJ-
-
-
-
3Gain-
HIST1H2BK-
-
-
-
3Gain-
HIST1H2BL-
-
-
-
3Gain-
HIST1H2BM-
-
-
-
3Gain-
HIST1H2BN-
-
-
-
3Gain-
HIST1H2BO-
-
-
-
3Gain-
HIST1H3A-
-
-
-
3Gain-
HIST1H3B-
-
-
-
3Gain-
HIST1H3C-
-
-
-
3Gain-
HIST1H3D-
-
-
-
3Gain-
HIST1H3E-
-
-
-
3Gain-
HIST1H3F-
-
-
-
3Gain-
HIST1H3G-
-
-
-
3Gain-
HIST1H3H-
-
-
-
3Gain-
HIST1H3I-
-
-
-
3Gain-
HIST1H3J-
-
-
-
3Gain-
HIST1H4A-
-
-
-
3Gain-
HIST1H4B-
-
-
-
3Gain-
HIST1H4C-
-
-
-
3Gain-
HIST1H4D-
-
-
-
3Gain-
HIST1H4E-
-
-
-
3Gain-
HIST1H4F-
-
-
-
3Gain-
HIST1H4G-
-
-
-
3Gain-
HIST1H4H-
-
-
-
3Gain-
HIST1H4I-
-
-
-
3Gain-
HIST1H4J-
-
-
-
3Gain-
HIST1H4K-
-
-
-
3Gain-
HIST1H4L-
-
-
-
3Gain-
HIST4H4-
-
-
-
3Gain-
HIVEP1-
-
-
-
3Gain-
HIVEP2-
-
-
-
1Loss-
HLA-A-
-
-
-
3Gain-
HLA-B-
-
-
-
3Gain-
HLA-C-
-
-
-
3Gain-
HLA-DMA-
-
-
-
3Gain-
HLA-DMB-
-
-
-
3Gain-
HLA-DOA-
-
-
-
3Gain-
HLA-DOB-
-
-
-
3Gain-
HLA-DPA1-
-
-
-
3Gain-
HLA-DPB1-
-
-
-
3Gain-
HLA-DQA1-
-
-
-
3Gain-
HLA-DQA2-
-
-
-
3Gain-
HLA-DQB1-
-
-
-
3Gain-
HLA-DQB2-
-
-
-
3Gain-
HLA-DRA-
-
-
-
3Gain-
HLA-DRB1-
-
-
-
3Gain-
HLA-DRB5-
-
-
-
3Gain-
HLA-E-
-
-
-
3Gain-
HLA-F-
-
-
-
3Gain-
HLA-G-
-
-
-
3Gain-
HLTF-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMGA1-
-
-
-
3Gain-
HMGA2-
-
-
-
3Gain-
HMGCLL1p.L291F
Missense
SNP
0.481
2--
HMGN3-
-
-
-
1Loss-
HMGN4-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HNF1A-
-
-
-
3Gain-
HNRNPA0-
-
-
-
1Loss-
HNRNPA1-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB4p.R229H
Missense
SNP
0.195
2--
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HPD-
-
-
-
3Gain-
HPS3-
-
-
-
3Gain-
HRASLS-
-
-
-
3Gain-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS3ST5-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD17B6-
-
-
-
3Gain-
HSD17B8-
-
-
-
3Gain-
HSD3B7-
-
-
-
3Gain-
HSF2-
-
-
-
1Loss-
HSP90B1-
-
-
-
3Gain-
HSPA1A-
-
-
-
3Gain-
HSPA1B-
-
-
-
3Gain-
HSPA1L-
-
-
-
3Gain-
HSPA4-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HSPB8-
-
-
-
3Gain-
HSPBAP1-
-
-
-
3Gain-
HTD2-
-
-
-
3Gain-
HTR1B-
-
-
-
1Loss-
HTR1Ep.D271N
Missense
SNP
1.000
1Loss-
HTR1F-
-
-
-
3Gain-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HTRA1p.E430K
Missense
SNP
0.526
2--
HUS1-
-
-
-
3Gain-
HUS1B-
-
-
-
3Gain-
HVCN1-
-
-
-
3Gain-
HYAL1-
-
-
-
3Gain-
HYAL2-
-
-
-
3Gain-
HYAL3-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYLS1-
-
-
-
1Loss-
IAPP-
-
-
-
3Gain-
IBTK-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ID4-
-
-
-
3Gain-
IER3-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
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-
IFNG-
-
-
-
3Gain-
IFNGR1-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFRD2-
-
-
-
3Gain-
IFT122-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IFT57-
-
-
-
3Gain-
IFT74-
-
-
-
1Loss-
IFT80-
-
-
-
3Gain-
IFT81-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGF2BP2-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGF2R-
-
-
-
1Loss-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP6-
-
-
-
3Gain-
IGHV3-30p.F3Y
Missense
SNP
0.254
NDND-
IGHV3OR16-8p.G61E
Missense
SNP
0.443
NDND-
IGIP-
-
-
-
1Loss-
IGKV3D-20p.S32F
Missense
SNP
0.367
NDND-
IGSF1p.G1026E
Missense
SNP
1.000
NDND-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKBIP-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IKZF4-
-
-
-
3Gain-
IL12A-
-
-
-
3Gain-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17RB-
-
-
-
3Gain-
IL17RC-
-
-
-
3Gain-
IL17RD-
-
-
-
3Gain-
IL17RE-
-
-
-
3Gain-
IL1RAP-
-
-
-
3Gain-
IL20RA-
-
-
-
1Loss-
IL20RB-
-
-
-
3Gain-
IL22-
-
-
-
3Gain-
IL22RA2-
-
-
-
1Loss-
IL23A-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL3-
-
-
-
1Loss-
IL31-
-
-
-
3Gain-
IL33-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
3Gain-
IL6-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILDR1-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
IMPDH2-
-
-
-
3Gain-
IMPG1-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
ING1-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
ING4-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INKA1-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INSIG1-
-
-
-
3Gain-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS13-
-
-
-
3Gain-
IP6K1-
-
-
-
3Gain-
IP6K2-
-
-
-
3Gain-
IP6K3-
-
-
-
3Gain-
IPCEF1-
-
-
-
1Loss-
IPO8-
-
-
-
3Gain-
IQCB1-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
3Gain-
IQCF2-
-
-
-
3Gain-
IQCF3-
-
-
-
3Gain-
IQCF5-
-
-
-
3Gain-
IQCF6-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQSEC1-
-
-
-
3Gain-
IQSEC3-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK1BP1-
-
-
-
1Loss-
IRAK2-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IRF1-
-
-
-
1Loss-
IRF4-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRGM-
-
-
-
1Loss-
IRS2-
-
-
-
3Gain-
ISCU-
-
-
-
3Gain-
ISOC1-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITFG2-
-
-
-
3Gain-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA9-
-
-
-
3Gain-
ITGB5-
-
-
-
3Gain-
ITGB7-
-
-
-
3Gain-
ITGB8-
-
-
-
3Gain-
ITGBL1-
-
-
-
3Gain-
ITIH1-
-
-
-
3Gain-
ITIH3-
-
-
-
3Gain-
ITIH4-
-
-
-
3Gain-
ITK-
-
-
-
1Loss-
ITPR1-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
ITPR3-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
IVLp.S12F
Missense
SNP
0.498
2--
IYD-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAGN1-
-
-
-
3Gain-
JAK2-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAMLp.R184C
Missense
SNP
0.520
2--
JARID2-
-
-
-
3Gain-
JAZF1-
-
-
-
3Gain-
JHY-
-
-
-
1Loss-
KAAG1-
-
-
-
3Gain-
KALRN-
-
-
-
3Gain-
KANK1-
-
-
-
1Loss-
KANSL2-
-
-
-
3Gain-
KAT2B-
-
-
-
3Gain-
KATNA1-
-
-
-
1Loss-
KBTBD12-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD8-
-
-
-
3Gain-
KCNA1-
-
-
-
3Gain-
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNAB1-
-
-
-
3Gain-
KCNC2-
-
-
-
3Gain-
KCND2-
-
-
-
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH3-
-
-
-
3Gain-
KCNH8-
-
-
-
3Gain-
KCNIP1-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ5-
-
-
-
1Loss-
KCNJ8-
-
-
-
3Gain-
KCNMB1-
-
-
-
1Loss-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNN2-
-
-
-
1Loss-
KCNQ3p.F712V
Missense
SNP
0.524
2--
KCNQ5-
-
-
-
1Loss-
KCNT2p.G679E
Missense
SNP
0.506
2--
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD10-
-
-
-
3Gain-
KCTD16-
-
-
-
1Loss-
KCTD6-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELC1-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDM1B-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM3B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM5A-
-
-
-
3Gain-
KDM7A-
-
-
-
3Gain-
KEL-
-
-
-
3Gain-
KERA-
-
-
-
3Gain-
KHDC1-
-
-
-
1Loss-
KHDC1L-
-
-
-
1Loss-
KHDC3L-
-
-
-
1Loss-
KIAA0319-
-
-
-
3Gain-
KIAA0408-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA1024L-
-
-
-
1Loss-
KIAA1143-
-
-
-
3Gain-
KIAA1147-
-
-
-
3Gain-
KIAA1257-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1549-
-
-
-
3Gain-
KIAA1551p.P869L
p.P1209S
Missense
Missense
SNP
SNP
0.338
0.647
3Gain-
KIAA2026-
-
-
-
1Loss-
KIF13A-
-
-
-
3Gain-
KIF15-
-
-
-
3Gain-
KIF20A-
-
-
-
1Loss-
KIF21A-
-
-
-
3Gain-
KIF25-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF5A-
-
-
-
3Gain-
KIF9-
-
-
-
3Gain-
KIFC1-
-
-
-
3Gain-
KIR2DL4p.G219E
Missense
SNP
0.343
2--
KIRREL3-
-
-
-
1Loss-
KITLG-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF15-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC8B-
-
-
-
3Gain-
KLHL18-
-
-
-
3Gain-
KLHL24-
-
-
-
3Gain-
KLHL3-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL40-
-
-
-
3Gain-
KLHL42-
-
-
-
3Gain-
KLHL6-
-
-
-
3Gain-
KLHL7-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRG2-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2D-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KMT5A-
-
-
-
3Gain-
KNG1-
-
-
-
3Gain-
KNTC1-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA4-
-
-
-
3Gain-
KPNA5-
-
-
-
1Loss-
KPNA7-
-
-
-
3Gain-
KRAS-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRBOX1-
-
-
-
3Gain-
KRIT1-
-
-
-
3Gain-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT35p.R130C
Missense
SNP
0.525
2--
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6Ap.W195*
Nonsense
SNP
0.695
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84-
-
-
-
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KSR2p.G575E
Missense
SNP
0.682
3Gain-
KY-
-
-
-
3Gain-
L3MBTL3-
-
-
-
1Loss-
LACRTp.G113E
Missense
SNP
0.652
3Gain-
LAG3-
-
-
-
3Gain-
LALBA-
-
-
-
3Gain-
LAMA2-
-
-
-
1Loss-
LAMA4-
-
-
-
1Loss-
LAMB1-
-
-
-
3Gain-
LAMB2-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMP1-
-
-
-
3Gain-
LAMP3-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LARP1-
-
-
-
1Loss-
LARP4-
-
-
-
3Gain-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LATS1-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LDHB-
-
-
-
3Gain-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LEMD2-
-
-
-
3Gain-
LEMD3-
-
-
-
3Gain-
LEP-
-
-
-
3Gain-
LETMD1-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGI1p.P203S
Missense
SNP
0.396
2--
LGR5-
-
-
-
3Gain-
LHFPL3-
-
-
-
3Gain-
LHFPL4-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LIG4-
-
-
-
3Gain-
LIMA1-
-
-
-
3Gain-
LIMD1-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIN28B-
-
-
-
1Loss-
LIN7A-
-
-
-
3Gain-
LINGO2-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMBRD1-
-
-
-
1Loss-
LMCD1-
-
-
-
3Gain-
LMLN-
-
-
-
3Gain-
LMNB1-
-
-
-
1Loss-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMOD3-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LNP1-
-
-
-
3Gain-
LOX-
-
-
-
1Loss-
LPA-
-
-
-
1Loss-
LPAR5-
-
-
-
3Gain-
LPCAT3-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LRCH3-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRCOL1-
-
-
-
3Gain-
LRGUK-
-
-
-
3Gain-
LRIF1p.T707I
Missense
SNP
0.467
2--
LRIG1-
-
-
-
3Gain-
LRIG3-
-
-
-
3Gain-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP11-
-
-
-
1Loss-
LRP6-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC19-
-
-
-
1Loss-
LRRC2-
-
-
-
3Gain-
LRRC23-
-
-
-
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC3B-
-
-
-
3Gain-
LRRC4-
-
-
-
3Gain-
LRRC43-
-
-
-
3Gain-
LRRC58-
-
-
-
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC7p.G1398E
Missense
SNP
0.542
2--
LRRC72-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRFIP2-
-
-
-
3Gain-
LRRIQ1-
-
-
-
3Gain-
LRRIQ4-
-
-
-
3Gain-
LRRK2-
-
-
-
3Gain-
LRRN1-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRTM2-
-
-
-
1Loss-
LRTM1-
-
-
-
3Gain-
LRTM2-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM11-
-
-
-
1Loss-
LSM2-
-
-
-
3Gain-
LSM3-
-
-
-
3Gain-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSMEM2-
-
-
-
3Gain-
LST1-
-
-
-
3Gain-
LTA-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTB-
-
-
-
3Gain-
LTBR-
-
-
-
3Gain-
LTF-
-
-
-
3Gain-
LTV1-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LUM-
-
-
-
3Gain-
LURAP1L-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
1Loss-
LXN-
-
-
-
3Gain-
LY6G5B-
-
-
-
3Gain-
LY6G5C-
-
-
-
3Gain-
LY6G6C-
-
-
-
3Gain-
LY6G6D-
-
-
-
3Gain-
LY6G6E-
-
-
-
3Gain-
LY6G6F-
-
-
-
3Gain-
LY6G6F-LY6G6D-
-
-
-
3Gain-
LY86-
-
-
-
3Gain-
LY9p.E409K
Missense
SNP
0.525
2--
LYRM2-
-
-
-
1Loss-
LYRM4-
-
-
-
3Gain-
LYRM7-
-
-
-
1Loss-
LYZ-
-
-
-
3Gain-
LYZL4-
-
-
-
3Gain-
LZTFL1-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MAATS1-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGEA11p.S413F
Missense
SNP
1.000
NDND-
MAGEF1-
-
-
-
3Gain-
MAGI1-
-
-
-
3Gain-
MAGI2-
-
-
-
3Gain-
MAGOHB-
-
-
-
3Gain-
MAK-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MAN1A1-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MANF-
-
-
-
3Gain-
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP1LC3B2-
-
-
-
3Gain-
MAP3K12-
-
-
-
3Gain-
MAP3K13-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
1Loss-
MAP4-
-
-
-
3Gain-
MAP6D1-
-
-
-
3Gain-
MAP7-
-
-
-
1Loss-
MAP7D3p.S233L
Missense
SNP
1.000
NDND-
MAPKAPK3-
-
-
-
3Gain-
MAPKAPK5-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCH9-
-
-
-
3Gain-
MARCKS-
-
-
-
1Loss-
MARS-
-
-
-
3Gain-
MAS1-
-
-
-
1Loss-
MAS1L-
-
-
-
3Gain-
MASP1-
-
-
-
3Gain-
MAT2B-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD4-
-
-
-
3Gain-
MBD6-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MBNL1-
-
-
-
3Gain-
MBOAT1-
-
-
-
3Gain-
MCC-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCCD1-
-
-
-
3Gain-
MCF2L-
-
-
-
3Gain-
MCF2L2-
-
-
-
3Gain-
MCHR2-
-
-
-
1Loss-
MCM2-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCM9-
-
-
-
1Loss-
MCRS1-
-
-
-
3Gain-
MCUR1-
-
-
-
3Gain-
MDC1-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MDN1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
MECOMp.P323S
p.S321L
Missense
Missense
SNP
SNP
0.634
0.641
3Gain-
MED12L-
-
-
-
3Gain-
MED13L-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MED23-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP2-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL21C-
-
-
-
3Gain-
METTL24-
-
-
-
1Loss-
METTL25-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL6-
-
-
-
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
MFAP3-
-
-
-
1Loss-
MFAP5-
-
-
-
3Gain-
MFN1-
-
-
-
3Gain-
MFSD1-
-
-
-
3Gain-
MFSD4B-
-
-
-
1Loss-
MFSD5-
-
-
-
3Gain-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGLL-
-
-
-
3Gain-
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MICA-
-
-
-
3Gain-
MICAL1-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MICBp.D358N
Missense
SNP
0.285
3Gain-
MINDY4-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIP-
-
-
-
3Gain-
MITF-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN2-
-
-
-
3Gain-
MKRN2OS-
-
-
-
3Gain-
MLANA-
-
-
-
1Loss-
MLEC-
-
-
-
3Gain-
MLF1-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLH1-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLN-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MLXIPL-
-
-
-
3Gain-
MMAB-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MME-
-
-
-
3Gain-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMS22L-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOB3B-
-
-
-
1Loss-
MOBP-
-
-
-
3Gain-
MOG-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MON1A-
-
-
-
3Gain-
MON2-
-
-
-
3Gain-
MORC1-
-
-
-
3Gain-
MORN3-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
3Gain-
MPIG6B-
-
-
-
3Gain-
MPLp.P136S
Missense
SNP
0.423
2--
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MRAP2-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRPL18-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL3-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL47-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS18B-
-
-
-
3Gain-
MRPS22-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS25-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MRS2-
-
-
-
3Gain-
MS4A2p.E180K
Missense
SNP
0.394
2--
MSANTD2-
-
-
-
1Loss-
MSH5-
-
-
-
3Gain-
MSH5-SAPCD1-
-
-
-
3Gain-
MSI1-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSRB3-
-
-
-
3Gain-
MST1-
-
-
-
3Gain-
MST1R-
-
-
-
3Gain-
MTAP-
-
-
-
1Loss-
MTERF1-
-
-
-
3Gain-
MTERF2-
-
-
-
3Gain-
MTFR2-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTMR14-
-
-
-
3Gain-
MTO1-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTRF1L-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC13-
-
-
-
3Gain-
MUC16p.S6948F
p.G1213E
Missense
Missense
SNP
SNP
0.539
0.528
2--
MUC17-
-
-
-
3Gain-
MUC19-
-
-
-
3Gain-
MUC20-
-
-
-
3Gain-
MUC21-
-
-
-
3Gain-
MUC22-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MUC4p.Q2605H
Missense
SNP
0.333
3Gain-
MUCL1-
-
-
-
3Gain-
MUCL3-
-
-
-
3Gain-
MUSTN1-
-
-
-
3Gain-
MVK-
-
-
-
3Gain-
MXRA5p.D2195N
Missense
SNP
1.000
NDND-
MYB-
-
-
-
1Loss-
MYBPC1-
-
-
-
3Gain-
MYCT1-
-
-
-
1Loss-
MYD88-
-
-
-
3Gain-
MYF5p.R213Q
Missense
SNP
0.675
3Gain-
MYF6-
-
-
-
3Gain-
MYH15-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL3-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYLIP-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYLK4-
-
-
-
3Gain-
MYNN-
-
-
-
3Gain-
MYO16-
-
-
-
3Gain-
MYO1A-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO1H-
-
-
-
3Gain-
MYO5Cp.S266F
Missense
SNP
0.461
2--
MYO6-
-
-
-
1Loss-
MYOFp.E1214K
Missense
SNP
0.508
2--
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYRFL-
-
-
-
3Gain-
MYRIP-
-
-
-
3Gain-
MZB1-
-
-
-
1Loss-
NAA25-
-
-
-
3Gain-
NAA50-
-
-
-
3Gain-
NAA80-
-
-
-
3Gain-
NAALADL2-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NAMPT-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAV3-
-
-
-
3Gain-
NAXD-
-
-
-
3Gain-
NBEAL2-
-
-
-
3Gain-
NCAPD2-
-
-
-
3Gain-
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
3Gain-
NCKAP5L-
-
-
-
3Gain-
NCKIPSD-
-
-
-
3Gain-
NCOA7-
-
-
-
1Loss-
NCOR2-
-
-
-
3Gain-
NCR3-
-
-
-
3Gain-
NDFIP1-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDUFA12-
-
-
-
3Gain-
NDUFA2-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NDUFAF3-
-
-
-
3Gain-
NDUFAF4-
-
-
-
1Loss-
NDUFB2-
-
-
-
3Gain-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NEBp.G5718R
Missense
SNP
0.538
2--
NECAP1-
-
-
-
3Gain-
NECTIN1-
-
-
-
1Loss-
NECTIN3-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEDD9-
-
-
-
3Gain-
NEK10-
-
-
-
3Gain-
NEK11-
-
-
-
3Gain-
NEK4-
-
-
-
3Gain-
NELFE-
-
-
-
3Gain-
NELL2p.R389Q
Missense
SNP
0.313
3Gain-
NEMP1-
-
-
-
3Gain-
NEPRO-
-
-
-
3Gain-
NEU1-
-
-
-
3Gain-
NEURL1p.P36L
Missense
SNP
0.451
2--
NEURL1B-
-
-
-
1Loss-
NEUROD4-
-
-
-
3Gain-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
1Loss-
NFE2-
-
-
-
3Gain-
NFE2L1p.L122F
Missense
SNP
0.432
2--
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIB-
-
-
-
1Loss-
NFKBIL1-
-
-
-
3Gain-
NFKBIZ-
-
-
-
3Gain-
NFRKB-
-
-
-
1Loss-
NFYB-
-
-
-
3Gain-
NGLY1-
-
-
-
3Gain-
NHLRC1-
-
-
-
3Gain-
NHSL1-
-
-
-
1Loss-
NICN1-
-
-
-
3Gain-
NINJ2-
-
-
-
3Gain-
NIPAL4-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
3Gain-
NISCH-
-
-
-
3Gain-
NIT2-
-
-
-
3Gain-
NKAIN2-
-
-
-
1Loss-
NKAPL-
-
-
-
3Gain-
NKIRAS1-
-
-
-
3Gain-
NKTR-
-
-
-
3Gain-
NKX2-5-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLRC5p.E947K
Missense
SNP
0.435
2--
NMBR-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMUR2-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOC4L-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOL6p.R723W
Missense
SNP
0.484
2--
NOL7-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOS1-
-
-
-
3Gain-
NOS3-
-
-
-
3Gain-
NOTCH4-
-
-
-
3Gain-
NOX3-
-
-
-
1Loss-
NPC1L1-
-
-
-
3Gain-
NPFF-
-
-
-
3Gain-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPM1-
-
-
-
1Loss-
NPRL2-
-
-
-
3Gain-
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NQO2-
-
-
-
3Gain-
NR1D2-
-
-
-
3Gain-
NR1H4-
-
-
-
3Gain-
NR1I2-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2C2-
-
-
-
3Gain-
NR2E1-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR4A1-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG2-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP2-
-
-
-
3Gain-
NRM-
-
-
-
3Gain-
NRN1-
-
-
-
3Gain-
NRROS-
-
-
-
3Gain-
NRSN1-
-
-
-
3Gain-
NSG2-
-
-
-
1Loss-
NSMCE1p.S256L
Missense
SNP
0.416
2--
NSUN3-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NT5DC1-
-
-
-
1Loss-
NT5DC2-
-
-
-
3Gain-
NT5DC3-
-
-
-
3Gain-
NT5E-
-
-
-
1Loss-
NTF3-
-
-
-
3Gain-
NTM-
-
-
-
1Loss-
NTN4-
-
-
-
3Gain-
NTS-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT16-
-
-
-
3Gain-
NUDT3-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUP107-
-
-
-
3Gain-
NUP153-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
3Gain-
NUP210Lp.H477Y
Missense
SNP
0.468
2--
NUP37-
-
-
-
3Gain-
NUP43-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUS1-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OAF-
-
-
-
1Loss-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OGFOD2-
-
-
-
3Gain-
OGFRL1-
-
-
-
1Loss-
OGG1-
-
-
-
3Gain-
OLFM3p.R237Q
Missense
SNP
0.449
2--
OLIG3-
-
-
-
1Loss-
OLR1-
-
-
-
3Gain-
OOEP-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPRM1-
-
-
-
1Loss-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10C1-
-
-
-
3Gain-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10P1-
-
-
-
3Gain-
OR10S1-
-
-
-
1Loss-
OR11A1-
-
-
-
3Gain-
OR12D2-
-
-
-
3Gain-
OR12D3-
-
-
-
3Gain-
OR14J1-
-
-
-
3Gain-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14p.E179K
Missense
SNP
0.407
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A4-
-
-
-
1Loss-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AP1-
-
-
-
3Gain-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2B6-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2H1-
-
-
-
3Gain-
OR2H2-
-
-
-
3Gain-
OR2J1-
-
-
-
3Gain-
OR2J2-
-
-
-
3Gain-
OR2J3-
-
-
-
3Gain-
OR2L5p.L42V
Missense
SNP
0.431
2--
OR2W1-
-
-
-
3Gain-
OR2Y1p.G2E
Missense
SNP
0.576
2--
OR2Z1p.V273L
Missense
SNP
0.484
2--
OR4D5-
-
-
-
1Loss-
OR4K1p.W309*
Nonsense
SNP
0.433
2--
OR4L1p.S53L
Missense
SNP
0.333
2--
OR4N2p.L289F
Missense
SNP
0.528
2--
OR4P4p.M96I
Missense
SNP
0.993
2--
OR56A3p.S189F
Missense
SNP
0.515
2--
OR5AC2-
-
-
-
3Gain-
OR5BS1P-
-
-
-
3Gain-
OR5H1-
-
-
-
3Gain-
OR5H14p.W50*
Nonsense
SNP
0.372
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2p.R127C
Missense
SNP
0.625
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR5L2p.S93F
Missense
SNP
0.426
2--
OR5V1-
-
-
-
3Gain-
OR6B1-
-
-
-
3Gain-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR6M1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8S1-
-
-
-
3Gain-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORAI3-
-
-
-
3Gain-
ORC3-
-
-
-
1Loss-
ORC5-
-
-
-
3Gain-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL10-
-
-
-
3Gain-
OSBPL11-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSTM1-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOGL-
-
-
-
3Gain-
OTOL1-
-
-
-
3Gain-
OVCH1-
-
-
-
3Gain-
OXNAD1-
-
-
-
3Gain-
OXSM-
-
-
-
3Gain-
OXSR1-
-
-
-
3Gain-
OXTR-
-
-
-
3Gain-
P2RX2-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
P3H3-
-
-
-
3Gain-
P4HA2-
-
-
-
1Loss-
P4HTM-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PACRG-
-
-
-
1Loss-
PACSIN1-
-
-
-
3Gain-
PAH-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAK1IP1-
-
-
-
3Gain-
PAK2-
-
-
-
3Gain-
PAK5p.E79K
Missense
SNP
0.541
2--
PAN2-
-
-
-
3Gain-
PANK3-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAQR9-
-
-
-
3Gain-
PARL-
-
-
-
3Gain-
PARP11-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP3-
-
-
-
3Gain-
PARP9-
-
-
-
3Gain-
PARPBP-
-
-
-
3Gain-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PAWR-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAXIP1-
-
-
-
3Gain-
PBOV1-
-
-
-
1Loss-
PBRM1-
-
-
-
3Gain-
PBX2-
-
-
-
3Gain-
PCBD2-
-
-
-
1Loss-
PCBP2-
-
-
-
3Gain-
PCBP4-
-
-
-
3Gain-
PCCB-
-
-
-
3Gain-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH15p.D1175N
Missense
SNP
0.496
2--
PCDH18p.E1114K
p.P1065S
Missense
Missense
SNP
SNP
0.457
0.571
2--
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3p.S174F
Missense
SNP
1.000
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1p.H606Y
Missense
SNP
1.000
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
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-
PCDHGA4p.L822R
Missense
SNP
1.000
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-
PCED1B-
-
-
-
3Gain-
PCID2-
-
-
-
3Gain-
PCLO-
-
-
-
3Gain-
PCMT1-
-
-
-
1Loss-
PCNP-
-
-
-
3Gain-
PCOLCE-
-
-
-
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCSK2p.S330F
Missense
SNP
0.518
2--
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
3Gain-
PDAP1-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDCD6IP-
-
-
-
3Gain-
PDE10A-
-
-
-
1Loss-
PDE12-
-
-
-
3Gain-
PDE1B-
-
-
-
3Gain-
PDE1Cp.D504N
Missense
SNP
0.336
3Gain-
PDE3A-
-
-
-
3Gain-
PDE6A-
-
-
-
1Loss-
PDE6H-
-
-
-
3Gain-
PDE7B-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFRBp.A916V
Missense
SNP
1.000
1Loss-
PDHB-
-
-
-
3Gain-
PDIA4-
-
-
-
3Gain-
PDIA5-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM4-
-
-
-
1Loss-
PDP1-
-
-
-
1Loss-
PDSS2-
-
-
-
1Loss-
PDZRN3-
-
-
-
3Gain-
PDZRN4-
-
-
-
3Gain-
PEBP1-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PERP-
-
-
-
1Loss-
PEX1-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX5-
-
-
-
3Gain-
PEX5L-
-
-
-
3Gain-
PEX7-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN5-
-
-
-
3Gain-
PFDN6-
-
-
-
3Gain-
PFKFB4-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PFN2-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PGAM5-
-
-
-
3Gain-
PGBD1-
-
-
-
3Gain-
PGGT1B-
-
-
-
1Loss-
PGM3-
-
-
-
1Loss-
PHACTR1-
-
-
-
3Gain-
PHACTR2-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHC3-
-
-
-
3Gain-
PHETA1-
-
-
-
3Gain-
PHF1-
-
-
-
3Gain-
PHF10-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF7-
-
-
-
3Gain-
PHIP-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDA1-
-
-
-
3Gain-
PHLDB2-
-
-
-
3Gain-
PHTF2-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGZ-
-
-
-
3Gain-
PIK3C2G-
-
-
-
3Gain-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3CG-
-
-
-
3Gain-
PIK3R4-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PIP4K2C-
-
-
-
3Gain-
PITPNM2-
-
-
-
3Gain-
PITX1-
-
-
-
1Loss-
PIWIL1-
-
-
-
3Gain-
PKD1L1-
-
-
-
3Gain-
PKD2L2-
-
-
-
1Loss-
PKHD1L1p.H923Y
p.G1278E
p.W2625*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.487
0.507
0.513
2--
PKIB-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PKP2-
-
-
-
3Gain-
PLA1A-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLAA-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCD1-
-
-
-
3Gain-
PLCH1-
-
-
-
3Gain-
PLCL2-
-
-
-
3Gain-
PLCXD2-
-
-
-
3Gain-
PLCZ1-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHG1-
-
-
-
1Loss-
PLEKHG6-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLN-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPP6-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXNA1-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PLXNB1-
-
-
-
3Gain-
PLXNC1-
-
-
-
3Gain-
PLXND1-
-
-
-
3Gain-
PM20D2-
-
-
-
1Loss-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNISR-
-
-
-
1Loss-
PNLDC1-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNRC1-
-
-
-
1Loss-
POC1A-
-
-
-
3Gain-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLQ-
-
-
-
3Gain-
POLR2H-
-
-
-
3Gain-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR3B-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POM121L2-
-
-
-
3Gain-
POMGNT2-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP5-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POPDC2-
-
-
-
3Gain-
POPDC3-
-
-
-
1Loss-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POU1F1-
-
-
-
3Gain-
POU2F3-
-
-
-
1Loss-
POU3F2-
-
-
-
1Loss-
POU4F3-
-
-
-
1Loss-
POU5F1-
-
-
-
3Gain-
POU6F1-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
3Gain-
PPARD-
-
-
-
3Gain-
PPARG-
-
-
-
3Gain-
PPARGC1B-
-
-
-
1Loss-
PPFIA2-
-
-
-
3Gain-
PPFIBP1-
-
-
-
3Gain-
PPHLN1-
-
-
-
3Gain-
PPIA-
-
-
-
3Gain-
PPIC-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPM1H-
-
-
-
3Gain-
PPM1L-
-
-
-
3Gain-
PPM1M-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R10-
-
-
-
3Gain-
PPP1R11-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R14C-
-
-
-
1Loss-
PPP1R17-
-
-
-
3Gain-
PPP1R18-
-
-
-
3Gain-
PPP1R1A-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R3G-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
2-AL031777.3--PPP2CB
PPP2R2B-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP4R2-
-
-
-
3Gain-
PPP4R4p.R585*
Nonsense
SNP
0.615
2--
PPT2-
-
-
-
3Gain-
PPT2-EGFL8-
-
-
-
3Gain-
PPTC7-
-
-
-
3Gain-
PQLC2L-
-
-
-
3Gain-
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRDM1-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM4-
-
-
-
3Gain-
PRDM6-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PREP-
-
-
-
1Loss-
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE1-
-
-
-
3Gain-
PRICKLE2-
-
-
-
3Gain-
PRIM1-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAG3p.E442K
Missense
SNP
0.492
2--
PRKAR1B-
-
-
-
3Gain-
PRKAR2A-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCD-
-
-
-
3Gain-
PRKCI-
-
-
-
3Gain-
PRKN-
-
-
-
1Loss-
PRKRIP1-
-
-
-
3Gain-
PRL-
-
-
-
3Gain-
PRMT8-
-
-
-
3Gain-
PROB1-
-
-
-
1Loss-
PROK2-
-
-
-
3Gain-
PROS1-
-
-
-
3Gain-
PROX1p.D127N
Missense
SNP
0.495
2--
PROZ-
-
-
-
3Gain-
PRPF40B-
-
-
-
3Gain-
PRPF4B-
-
-
-
3Gain-
PRPF6p.P183S
Missense
SNP
0.490
2--
PRPH-
-
-
-
3Gain-
PRPS1L1-
-
-
-
3Gain-
PRR13-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR3-
-
-
-
3Gain-
PRR4-
-
-
-
3Gain-
PRRC1-
-
-
-
1Loss-
PRRC2A-
-
-
-
3Gain-
PRRT1-
-
-
-
3Gain-
PRRT3-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS16-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS35-
-
-
-
1Loss-
PRSS37-
-
-
-
3Gain-
PRSS42-
-
-
-
3Gain-
PRSS45-
-
-
-
3Gain-
PRSS50-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PSD2-
-
-
-
1Loss-
PSG3p.P281S
Missense
SNP
0.400
2--
PSG8p.S119F
Missense
SNP
0.539
2--
PSIP1-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMB1-
-
-
-
1Loss-
PSMB8-
-
-
-
3Gain-
PSMB9-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMD2-
-
-
-
3Gain-
PSMD6-
-
-
-
3Gain-
PSMD9-
-
-
-
3Gain-
PSMG3-
-
-
-
3Gain-
PSMG4-
-
-
-
3Gain-
PSORS1C1-
-
-
-
3Gain-
PSORS1C2-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTGER3p.R392C
Missense
SNP
0.468
2--
PTGES3-
-
-
-
3Gain-
PTH1R-
-
-
-
3Gain-
PTHLH-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPN23-
-
-
-
3Gain-
PTPN6-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRD-
-
-
-
1Loss-
PTPRG-
-
-
-
3Gain-
PTPRKp.E437K
p.G117R
Missense
Missense
SNP
SNP
0.984
0.983
1Loss-
PTPRN2-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PTPRQp.E2287K
Missense
SNP
0.696
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PTX3-
-
-
-
3Gain-
PUM3-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PUS3-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PWWP2A-
-
-
-
1Loss-
PXDC1-
-
-
-
3Gain-
PXK-
-
-
-
3Gain-
PXMP2-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PXYLP1-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PZP-
-
-
-
3Gain-
QARS-
-
-
-
3Gain-
QKI-
-
-
-
1Loss-
QRICH1-
-
-
-
3Gain-
QRSL1-
-
-
-
1Loss-
QTRT2-
-
-
-
3Gain-
R3HDM2-
-
-
-
3Gain-
R3HDMLp.D152N
Missense
SNP
0.452
2--
RAB19-
-
-
-
3Gain-
RAB20-
-
-
-
3Gain-
RAB21-
-
-
-
3Gain-
RAB32-
-
-
-
1Loss-
RAB35-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB43-
-
-
-
3Gain-
RAB5A-
-
-
-
3Gain-
RAB5B-
-
-
-
3Gain-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABL3-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RACGAP1-
-
-
-
3Gain-
RAD18-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51AP1-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD54L2-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAF1-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RAMACL-
-
-
-
1Loss-
RAMP3-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RANBP17-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANBP9-
-
-
-
3Gain-
RAP1B-
-
-
-
3Gain-
RAP2B-
-
-
-
3Gain-
RAPGEF3-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RARB-
-
-
-
3Gain-
RARG-
-
-
-
3Gain-
RARRES1-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RARS-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA3-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASSF1-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBM12B-
-
-
-
1Loss-
RBM15B-
-
-
-
3Gain-
RBM19-
-
-
-
3Gain-
RBM22-
-
-
-
1Loss-
RBM23p.R107C
Missense
SNP
0.508
2--
RBM24-
-
-
-
3Gain-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM44p.E886K
Missense
SNP
0.453
2--
RBM48-
-
-
-
3Gain-
RBM5-
-
-
-
3Gain-
RBM6-
-
-
-
3Gain-
RBMS2-
-
-
-
3Gain-
RBMS3-
-
-
-
3Gain-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBP5-
-
-
-
3Gain-
RBSN-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCL1-
-
-
-
1Loss-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
REEP2-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
RELL1p.R87C
Missense
SNP
0.497
2--
RELL2-
-
-
-
1Loss-
RELN-
-
-
-
3Gain-
REP15-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REPS1-
-
-
-
1Loss-
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RETNLB-
-
-
-
3Gain-
REV3L-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFC4-
-
-
-
3Gain-
RFC5-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFPL4B-
-
-
-
1Loss-
RFT1-
-
-
-
3Gain-
RFTN1-
-
-
-
3Gain-
RFX3-
-
-
-
1Loss-
RFX4-
-
-
-
3Gain-
RFX6-
-
-
-
1Loss-
RGL2-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RHAGp.D29N
Missense
SNP
0.446
2--
RHBDD2-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEBL1-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHO-
-
-
-
3Gain-
RHOA-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RIC1-
-
-
-
1Loss-
RIC8B-
-
-
-
3Gain-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLB-
-
-
-
3Gain-
RIMS1-
-
-
-
1Loss-
RING1-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RIOK1-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIPK1-
-
-
-
3Gain-
RIPOR2-
-
-
-
3Gain-
RIPPLY2-
-
-
-
1Loss-
RITA1-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RNA5-8SN2-
-
-
-
NDNDCTNNB1--RNA5-8SN2
RNA5-8SN2--CTSA
RNA5-8SN2--ATP1A1
RNASET2-
-
-
-
1Loss-
RND1-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF123-
-
-
-
3Gain-
RNF13-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF14-
-
-
-
1Loss-
RNF144B-
-
-
-
3Gain-
RNF145-
-
-
-
1Loss-
RNF146-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF168-
-
-
-
3Gain-
RNF182-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF217-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
3Gain-
RNF39-
-
-
-
3Gain-
RNF41-
-
-
-
3Gain-
RNF5-
-
-
-
3Gain-
RNF7-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
RNGTT-
-
-
-
1Loss-
ROBO1-
-
-
-
3Gain-
ROBO2-
-
-
-
3Gain-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
RORAp.R27*
Nonsense
SNP
0.432
2--
ROS1-
-
-
-
1Loss-
RP11-360D2.1p.S156F
Missense
SNP
0.444
NDND-
RP5-862P8.2p.D602N
Missense
SNP
0.483
NDND-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAP3-
-
-
-
3Gain-
RPF2-
-
-
-
1Loss-
RPH3A-
-
-
-
3Gain-
RPL10A-
-
-
-
3Gain-
RPL14-
-
-
-
3Gain-
RPL15-
-
-
-
3Gain-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL26L1-
-
-
-
1Loss-
RPL29-
-
-
-
3Gain-
RPL32-
-
-
-
3Gain-
RPL35A-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPN1-
-
-
-
3Gain-
RPP14-
-
-
-
3Gain-
RPP21-
-
-
-
3Gain-
RPP40-
-
-
-
3Gain-
RPS10-
-
-
-
3Gain-
RPS10-NUDT3-
-
-
-
3Gain-
RPS12-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS18-
-
-
-
3Gain-
RPS26-
-
-
-
3Gain-
RPS6-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPSA-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RPUSD3-
-
-
-
3Gain-
RPUSD4-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RREB1-
-
-
-
3Gain-
RRP9-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
1Loss-
RSPO3-
-
-
-
1Loss-
RSRC1-
-
-
-
3Gain-
RSRC2-
-
-
-
3Gain-
RTN4IP1-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RUBCN-
-
-
-
3Gain-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1p.E274K
Missense
SNP
0.290
2--
RUVBL1-
-
-
-
3Gain-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RXRB-
-
-
-
3Gain-
RXYLT1-
-
-
-
3Gain-
RYBP-
-
-
-
3Gain-
RYK-
-
-
-
3Gain-
RYR3p.R2980Q
Missense
SNP
0.495
2--
S100A9p.R42Q
Missense
SNP
0.411
2--
SACM1L-
-
-
-
3Gain-
SAMD3-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAMD7-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP130p.I1030M
Missense
SNP
0.480
2--
SAP25-
-
-
-
3Gain-
SAP30L-
-
-
-
1Loss-
SAPCD1-
-
-
-
3Gain-
SAR1B-
-
-
-
1Loss-
SARNP-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SASH1-
-
-
-
1Loss-
SATB1-
-
-
-
3Gain-
SAXO1-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SBNO1-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAF11-
-
-
-
3Gain-
SCAF8-
-
-
-
1Loss-
SCAP-
-
-
-
3Gain-
SCARB1-
-
-
-
3Gain-
SCGB3A2-
-
-
-
1Loss-
SCGN-
-
-
-
3Gain-
SCHIP1-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCML4-
-
-
-
1Loss-
SCN10A-
-
-
-
3Gain-
SCN11A-
-
-
-
3Gain-
SCN2Ap.E1111K
Missense
SNP
0.569
2--
SCN3B-
-
-
-
1Loss-
SCN5A-
-
-
-
3Gain-
SCN8A-
-
-
-
3Gain-
SCNN1A-
-
-
-
3Gain-
SCRN1-
-
-
-
3Gain-
SCUBE3-
-
-
-
3Gain-
SCX-
-
-
-
1Loss-
SCYL2-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDHAF4-
-
-
-
1Loss-
SDK1-
-
-
-
3Gain-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEC13-
-
-
-
3Gain-
SEC22A-
-
-
-
3Gain-
SEC22C-
-
-
-
3Gain-
SEC24A-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SEC63-
-
-
-
1Loss-
SELENOK-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SELPLG-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
3Gain-
SEMA3G-
-
-
-
3Gain-
SEMA5B-
-
-
-
3Gain-
SEMA6A-
-
-
-
1Loss-
SENP1-
-
-
-
3Gain-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP6-
-
-
-
1Loss-
SENP7-
-
-
-
3Gain-
SEPT12p.P284S
Missense
SNP
0.474
2--
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERPINB1-
-
-
-
3Gain-
SERPINB11p.Q130*
Nonsense
SNP
0.493
2--
SERPINB6-
-
-
-
3Gain-
SERPINB9-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SERPINI1-
-
-
-
3Gain-
SERPINI2p.G397R
Missense
SNP
0.289
3Gain-
SESN1-
-
-
-
1Loss-
SETD1A-
-
-
-
3Gain-
SETD1B-
-
-
-
3Gain-
SETD2-
-
-
-
3Gain-
SETD5-
-
-
-
3Gain-
SETMAR-
-
-
-
3Gain-
SF3B5-
-
-
-
1Loss-
SFMBT1-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SFSWAP-
-
-
-
3Gain-
SFT2D1-
-
-
-
1Loss-
SFTA2-
-
-
-
3Gain-
SGCD-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGK1-
-
-
-
1Loss-
SGO1-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH3BGRL2-
-
-
-
1Loss-
SH3BP5-
-
-
-
3Gain-
SH3GL2-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC1p.L555F
Missense
SNP
0.505
2--
SH3TC2-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA5-
-
-
-
3Gain-
SHMT2-
-
-
-
3Gain-
SHOX2-
-
-
-
3Gain-
SHPRH-
-
-
-
1Loss-
SHQ1-
-
-
-
3Gain-
SHROOM1-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAE-
-
-
-
1Loss-
SIAH2-
-
-
-
3Gain-
SIDT1-
-
-
-
3Gain-
SIL1-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SINHCAF-
-
-
-
3Gain-
SIRT4-
-
-
-
3Gain-
SIRT5-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKIL-
-
-
-
3Gain-
SKIV2L-
-
-
-
3Gain-
SKP1-
-
-
-
1Loss-
SLC10A2-
-
-
-
3Gain-
SLC11A2-
-
-
-
3Gain-
SLC12A2-
-
-
-
1Loss-
SLC12A8-
-
-
-
3Gain-
SLC12A9-
-
-
-
3Gain-
SLC13A1p.S524L
Missense
SNP
0.621
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC15A2p.S59F
Missense
SNP
0.345
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A10-
-
-
-
1Loss-
SLC16A7-
-
-
-
3Gain-
SLC17A1-
-
-
-
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A5-
-
-
-
1Loss-
SLC17A8-
-
-
-
3Gain-
SLC18B1-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A10p.E5K
p.R393*
Missense
Nonsense
SNP
SNP
0.548
0.465
2--
SLC22A13-
-
-
-
3Gain-
SLC22A14-
-
-
-
3Gain-
SLC22A16-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A23-
-
-
-
3Gain-
SLC22A3-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC25A13-
-
-
-
3Gain-
SLC25A2-
-
-
-
1Loss-
SLC25A20-
-
-
-
3Gain-
SLC25A26-
-
-
-
3Gain-
SLC25A3-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC25A38-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC25A46-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC26A10-
-
-
-
3Gain-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A6-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A12-
-
-
-
1Loss-
SLC2A13-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A2p.L184F
Missense
SNP
0.515
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC33A1-
-
-
-
3Gain-
SLC35A1-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35A5-
-
-
-
3Gain-
SLC35B3-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C1p.P349L
Missense
SNP
0.540
2--
SLC35D3-
-
-
-
1Loss-
SLC35E3-
-
-
-
3Gain-
SLC35F1-
-
-
-
1Loss-
SLC35G2-
-
-
-
3Gain-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A3-
-
-
-
3Gain-
SLC38A4-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC39A7-
-
-
-
3Gain-
SLC41A2-
-
-
-
3Gain-
SLC41A3-
-
-
-
3Gain-
SLC44A4-
-
-
-
3Gain-
SLC48A1-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A7-
-
-
-
3Gain-
SLC4A8-
-
-
-
3Gain-
SLC4A9-
-
-
-
1Loss-
SLC51A-
-
-
-
3Gain-
SLC5A8-
-
-
-
3Gain-
SLC6A1-
-
-
-
3Gain-
SLC6A11-
-
-
-
3Gain-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC6A20-
-
-
-
3Gain-
SLC6A6-
-
-
-
3Gain-
SLC6A7-
-
-
-
1Loss-
SLC7A14-
-
-
-
3Gain-
SLC8B1-
-
-
-
3Gain-
SLC9A9-
-
-
-
3Gain-
SLC9C1-
-
-
-
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO2A1-
-
-
-
3Gain-
SLIT3-
-
-
-
1Loss-
SLITRK3-
-
-
-
3Gain-
SLMAP-
-
-
-
3Gain-
SLU7-
-
-
-
1Loss-
SLX4-
-
-
-
3Gain-
SMAD5-
-
-
-
1Loss-
SMAGP-
-
-
-
3Gain-
SMAP1-
-
-
-
1Loss-
SMARCA2p.P127L
Missense
SNP
1.000
1Loss-
SMARCA4p.G1232S
Missense
SNP
0.515
2--
SMARCC1-
-
-
-
3Gain-
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMC4-
-
-
-
3Gain-
SMCO1-
-
-
-
3Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMIM13-
-
-
-
3Gain-
SMIM23-
-
-
-
1Loss-
SMIM29-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM4-
-
-
-
3Gain-
SMIM8-
-
-
-
1Loss-
SMKR1-
-
-
-
3Gain-
SMLR1-
-
-
-
1Loss-
SMO-
-
-
-
3Gain-
SMOC2-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPDL3A-
-
-
-
1Loss-
SMUG1-
-
-
-
3Gain-
SMURF1-
-
-
-
3Gain-
SNAP91p.S115F
Missense
SNP
1.000
1Loss-
SNAPC3-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNRK-
-
-
-
3Gain-
SNRNP35-
-
-
-
3Gain-
SNRNP48-
-
-
-
3Gain-
SNRPC-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SNTN-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX14-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX3-
-
-
-
1Loss-
SNX4-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SNX9-
-
-
-
1Loss-
SOAT2-
-
-
-
3Gain-
SOBP-
-
-
-
1Loss-
SOCS2-
-
-
-
3Gain-
SOD2-
-
-
-
1Loss-
SOGA3-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOX1-
-
-
-
3Gain-
SOX14-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
3Gain-
SOX5-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP4-
-
-
-
3Gain-
SP7-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPACA1-
-
-
-
1Loss-
SPACA7-
-
-
-
3Gain-
SPAM1p.G207E
Missense
SNP
0.683
3Gain-
SPARC-
-
-
-
1Loss-
SPATA12-
-
-
-
3Gain-
SPATA16-
-
-
-
3Gain-
SPATA19-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA48-
-
-
-
3Gain-
SPATA6L-
-
-
-
1Loss-
SPATS2-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPDEF-
-
-
-
3Gain-
SPDL1-
-
-
-
1Loss-
SPDYE1-
-
-
-
3Gain-
SPDYE2-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPDYE6-
-
-
-
3Gain-
SPIC-
-
-
-
3Gain-
SPICE1-
-
-
-
3Gain-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
3Gain-
SPINK9-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPPL3-
-
-
-
3Gain-
SPRY4-
-
-
-
1Loss-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPSB4-
-
-
-
3Gain-
SPTA1p.E1731K
Missense
SNP
0.411
2--
SPTSSB-
-
-
-
3Gain-
SPX-
-
-
-
3Gain-
SRA1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP1-
-
-
-
3Gain-
SRGAP3-
-
-
-
3Gain-
SRI-
-
-
-
3Gain-
SRP19-
-
-
-
1Loss-
SRPK2-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRM4-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF12-
-
-
-
1Loss-
SRSF9-
-
-
-
3Gain-
SS18L2-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSH1-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
SSPOp.E5061K
Missense
SNP
0.705
3Gain-
SSR1-
-
-
-
3Gain-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
SSUH2-
-
-
-
3Gain-
ST14-
-
-
-
1Loss-
ST18p.D508N
Missense
SNP
0.426
2--
ST3GAL4-
-
-
-
1Loss-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GAL2p.G210E
p.R11Q
Missense
Missense
SNP
SNP
0.422
0.464
2--
ST7-
-
-
-
3Gain-
ST8SIA1-
-
-
-
3Gain-
ST8SIA5p.R270C
Missense
SNP
0.439
2--
STAB1-
-
-
-
3Gain-
STAB2-
-
-
-
3Gain-
STAC-
-
-
-
3Gain-
STAC3-
-
-
-
3Gain-
STAG1-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STAT2-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STC2-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STIMATE-
-
-
-
3Gain-
STK10-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK19-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STK38L-
-
-
-
3Gain-
STMND1-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STRA8-
-
-
-
3Gain-
STRAP-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STT3A-
-
-
-
1Loss-
STT3B-
-
-
-
3Gain-
STX11-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX1B-
-
-
-
3Gain-
STX2-
-
-
-
3Gain-
STX4-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
STXBP5L-
-
-
-
3Gain-
STYK1-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUCLG2-
-
-
-
3Gain-
SUCNR1-
-
-
-
3Gain-
SUDS3-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SUMF1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SUSD5-
-
-
-
3Gain-
SVOP-
-
-
-
3Gain-
SVOPL-
-
-
-
3Gain-
SYCP2L-
-
-
-
3Gain-
SYCP3-
-
-
-
3Gain-
SYN2-
-
-
-
3Gain-
SYNCRIP-
-
-
-
1Loss-
SYNE1-
-
-
-
1Loss-
SYNGAP1-
-
-
-
3Gain-
SYNJ2-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPR-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYT1-
-
-
-
3Gain-
SYT10-
-
-
-
3Gain-
SYT4p.L57F
Missense
SNP
0.455
2--
SYTL3-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TAC1-
-
-
-
3Gain-
TAC3-
-
-
-
3Gain-
TADA3-
-
-
-
3Gain-
TAF11-
-
-
-
3Gain-
TAF1Lp.R1461Q
Missense
SNP
0.445
2--
TAF6-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TAGLN3-
-
-
-
3Gain-
TAMM41-
-
-
-
3Gain-
TANC1p.P462S
Missense
SNP
0.529
2--
TAOK3-
-
-
-
3Gain-
TAP1-
-
-
-
3Gain-
TAP2-
-
-
-
3Gain-
TAPBP-
-
-
-
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R38p.M227I
Missense
SNP
0.347
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R43-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TATDN2-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBC1D15-
-
-
-
3Gain-
TBC1D23-
-
-
-
3Gain-
TBC1D30-
-
-
-
3Gain-
TBC1D32-
-
-
-
1Loss-
TBC1D5-
-
-
-
3Gain-
TBC1D7-
-
-
-
3Gain-
TBCCD1-
-
-
-
3Gain-
TBCEL-
-
-
-
1Loss-
TBK1-
-
-
-
3Gain-
TBL1XR1-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBRG4-
-
-
-
3Gain-
TBX18-
-
-
-
1Loss-
TBX19p.S327F
Missense
SNP
0.512
2--
TBX20-
-
-
-
3Gain-
TBX3-
-
-
-
3Gain-
TBX5-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TBXT-
-
-
-
1Loss-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCAIM-
-
-
-
3Gain-
TCERG1-
-
-
-
1Loss-
TCF19-
-
-
-
3Gain-
TCF21-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHP-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCP11-
-
-
-
3Gain-
TCP11L2-
-
-
-
3Gain-
TCTA-
-
-
-
3Gain-
TCTE3-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TDGF1-
-
-
-
3Gain-
TDP2-
-
-
-
3Gain-
TEAD3-
-
-
-
3Gain-
TEAD4-
-
-
-
3Gain-
TECPR1-
-
-
-
3Gain-
TECTA-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESPA1-
-
-
-
3Gain-
TEX264-
-
-
-
3Gain-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX47-
-
-
-
3Gain-
TEX49-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TF-
-
-
-
3Gain-
TFAP2A-
-
-
-
3Gain-
TFB1M-
-
-
-
1Loss-
TFCP2-
-
-
-
3Gain-
TFDP1-
-
-
-
3Gain-
TFDP2-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFG-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TFRCp.P543L
Missense
SNP
0.406
3Gain-
TGFBI-
-
-
-
1Loss-
TGFBR2-
-
-
-
3Gain-
TGM4-
-
-
-
3Gain-
THAP2-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THBS2-
-
-
-
1Loss-
THEMIS-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC7-
-
-
-
3Gain-
THPOp.E252K
Missense
SNP
0.600
3Gain-
THRBp.R158Q
Missense
SNP
0.396
3Gain-
THSD7Ap.S370N
Missense
SNP
0.336
3Gain-
THUMPD3-
-
-
-
3Gain-
THYN1-
-
-
-
1Loss-
TIAM2-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGAR-
-
-
-
3Gain-
TIGD6-
-
-
-
1Loss-
TIGIT-
-
-
-
3Gain-
TIMD4-
-
-
-
1Loss-
TIMELESS-
-
-
-
3Gain-
TIMMDC1-
-
-
-
3Gain-
TIMP4-
-
-
-
3Gain-
TIPARP-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TKT-
-
-
-
3Gain-
TLR5p.L260F
Missense
SNP
0.508
2--
TLR9-
-
-
-
3Gain-
TLX3-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM7SF3-
-
-
-
3Gain-
TMA7-
-
-
-
3Gain-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMCC3-
-
-
-
3Gain-
TMCO3-
-
-
-
3Gain-
TMCO6-
-
-
-
1Loss-
TMED2-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM106C-
-
-
-
3Gain-
TMEM108-
-
-
-
3Gain-
TMEM110-MUSTN1-
-
-
-
3Gain-
TMEM115-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132D-
-
-
-
3Gain-
TMEM136-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM14B-
-
-
-
3Gain-
TMEM14C-
-
-
-
3Gain-
TMEM158-
-
-
-
3Gain-
TMEM168-
-
-
-
3Gain-
TMEM170B-
-
-
-
3Gain-
TMEM173-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM181-
-
-
-
1Loss-
TMEM184A-
-
-
-
3Gain-
TMEM19-
-
-
-
3Gain-
TMEM196p.S121F
Missense
SNP
0.357
3Gain-
TMEM200Ap.P330S
Missense
SNP
1.000
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM209-
-
-
-
3Gain-
TMEM212-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM218-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM232-
-
-
-
1Loss-
TMEM233-
-
-
-
3Gain-
TMEM242-
-
-
-
1Loss-
TMEM243-
-
-
-
3Gain-
TMEM244-
-
-
-
1Loss-
TMEM248-
-
-
-
3Gain-
TMEM255B-
-
-
-
3Gain-
TMEM260p.G51Efs*6
Frame_Shift_Del
DEL
0.069
2--
TMEM263-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM30A-
-
-
-
1Loss-
TMEM39A-
-
-
-
3Gain-
TMEM40-
-
-
-
3Gain-
TMEM41A-
-
-
-
3Gain-
TMEM42-
-
-
-
3Gain-
TMEM43-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM45B-
-
-
-
1Loss-
TMEM52B-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM67-
-
-
-
1Loss-
TMEM89-
-
-
-
3Gain-
TMF1-
-
-
-
3Gain-
TMIE-
-
-
-
3Gain-
TMPO-
-
-
-
3Gain-
TMPPE-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMPRSS7-
-
-
-
3Gain-
TMTC1-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMUB1-
-
-
-
3Gain-
TNF-
-
-
-
3Gain-
TNFAIP3-
-
-
-
1Loss-
TNFAIP8-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNFSF13B-
-
-
-
3Gain-
TNIK-
-
-
-
3Gain-
TNIP1-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNNC1-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNS2-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNXB-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOMM70-
-
-
-
3Gain-
TOP2B-
-
-
-
3Gain-
TOPAZ1-
-
-
-
3Gain-
TOPBP1-
-
-
-
3Gain-
TP53AIP1-
-
-
-
1Loss-
TP63-
-
-
-
3Gain-
TPBG-
-
-
-
1Loss-
TPCN1-
-
-
-
3Gain-
TPD52L1-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TPK1-
-
-
-
3Gain-
TPMT-
-
-
-
3Gain-
TPP2-
-
-
-
3Gain-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRAF1p.S264F
Missense
SNP
0.424
2--
TRAF3IP2-
-
-
-
1Loss-
TRAFD1-
-
-
-
3Gain-
TRAIP-
-
-
-
3Gain-
TRAK1-
-
-
-
3Gain-
TRANK1p.G2338E
Missense
SNP
0.359
3Gain-
TRAP1-
-
-
-
3Gain-
TRAPPC3L-
-
-
-
1Loss-
TRAT1p.S157F
Missense
SNP
0.354
3Gain-
TRDN-
-
-
-
1Loss-
TREX1-
-
-
-
3Gain-
TRH-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRIAP1-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM10-
-
-
-
3Gain-
TRIM15-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM26-
-
-
-
3Gain-
TRIM27-
-
-
-
3Gain-
TRIM29-
-
-
-
1Loss-
TRIM31-
-
-
-
3Gain-
TRIM36-
-
-
-
1Loss-
TRIM38-
-
-
-
3Gain-
TRIM39-
-
-
-
3Gain-
TRIM39-RPP21-
-
-
-
3Gain-
TRIM4-
-
-
-
3Gain-
TRIM40-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM71-
-
-
-
3Gain-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIP6-
-
-
-
3Gain-
TRMT10C-
-
-
-
3Gain-
TRMT11-
-
-
-
1Loss-
TRNT1-
-
-
-
3Gain-
TROAP-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPC4p.W415*
Nonsense
SNP
0.389
2--
TRPC7-
-
-
-
1Loss-
TRPM3p.E423K
Missense
SNP
0.536
2--
TRPV4-
-
-
-
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TSC22D2-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN2-
-
-
-
3Gain-
TSFM-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSLP-
-
-
-
1Loss-
TSPAN11-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN19-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPAN8-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSTD3-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC21A-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTC39B-
-
-
-
1Loss-
TTK-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTLL3-
-
-
-
3Gain-
TTNp.P12159S
p.P7985S
p.S6341L
p.T5090A
p.M4471I
p.R220Q
p.S153L
Missense
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.427
0.416
0.425
0.512
0.477
0.441
0.442
2--
TTYH3-
-
-
-
3Gain-
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TUBB-
-
-
-
3Gain-
TUBB2A-
-
-
-
3Gain-
TUBB2B-
-
-
-
3Gain-
TUBE1-
-
-
-
1Loss-
TUBGCP3-
-
-
-
3Gain-
TULP1-
-
-
-
3Gain-
TULP3-
-
-
-
3Gain-
TULP4-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TUSC2-
-
-
-
3Gain-
TWF1-
-
-
-
3Gain-
TWF2-
-
-
-
3Gain-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXLNB-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC5-
-
-
-
3Gain-
TXNRD1-
-
-
-
3Gain-
TXNRD3-
-
-
-
3Gain-
TYRP1-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UBA3-
-
-
-
3Gain-
UBA5-
-
-
-
3Gain-
UBA7-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
2-UBB--ANKLE2
UBC-
-
-
-
3Gain-
UBD-
-
-
-
3Gain-
UBE2B-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
3Gain-
UBE2E2-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2J1-
-
-
-
1Loss-
UBE2N-
-
-
-
3Gain-
UBE3B-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBE3D-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBP1-
-
-
-
3Gain-
UBTD2-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UCN2-
-
-
-
3Gain-
UFL1-
-
-
-
1Loss-
UFSP1-
-
-
-
3Gain-
UGT1A10p.P164L
Missense
SNP
0.459
2--
UHRF1BP1-
-
-
-
3Gain-
UHRF1BP1L-
-
-
-
3Gain-
UHRF2-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK1-
-
-
-
3Gain-
ULK4-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UMPS-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNC13Cp.R182Q
Missense
SNP
0.454
2--
UNC45Bp.R481C
Missense
SNP
0.459
2--
UNC93A-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UNG-
-
-
-
3Gain-
UPF3A-
-
-
-
3Gain-
UPK1B-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC2-
-
-
-
3Gain-
UQCRC1-
-
-
-
3Gain-
UQCRQ-
-
-
-
1Loss-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
UROC1-
-
-
-
3Gain-
USF3-
-
-
-
3Gain-
USH2Ap.G4804R
Missense
SNP
0.519
2--
USP13-
-
-
-
3Gain-
USP15-
-
-
-
3Gain-
USP19-
-
-
-
3Gain-
USP30-
-
-
-
3Gain-
USP4-
-
-
-
3Gain-
USP42-
-
-
-
3Gain-
USP44-
-
-
-
3Gain-
USP45-
-
-
-
1Loss-
USP5-
-
-
-
3Gain-
USP6p.R943C
Missense
SNP
0.475
2--
UST-
-
-
-
1Loss-
UTP20-
-
-
-
3Gain-
UTRN-
-
-
-
1Loss-
UTS2B-
-
-
-
3Gain-
VAMP1-
-
-
-
3Gain-
VARS-
-
-
-
3Gain-
VARS2-
-
-
-
3Gain-
VDAC1-
-
-
-
1Loss-
VDR-
-
-
-
3Gain-
VEPH1-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VGF-
-
-
-
3Gain-
VGLL2-
-
-
-
1Loss-
VGLL3-
-
-
-
3Gain-
VGLL4-
-
-
-
3Gain-
VHL-
-
-
-
3Gain-
VILL-
-
-
-
3Gain-
VIP-
-
-
-
1Loss-
VIPR1-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VOPP1-
-
-
-
3Gain-
VPS26B-
-
-
-
1Loss-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS37B-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS50-
-
-
-
3Gain-
VPS52-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VSIG10-
-
-
-
3Gain-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM2A-
-
-
-
3Gain-
VTA1-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B2-
-
-
-
3Gain-
VWA7-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
3Gain-
WASF1-
-
-
-
1Loss-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP11-
-
-
-
3Gain-
WBSCR17p.R400C
Missense
SNP
0.288
NDND-
WDR27-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR46-
-
-
-
3Gain-
WDR48-
-
-
-
3Gain-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR55-
-
-
-
1Loss-
WDR5B-
-
-
-
3Gain-
WDR6-
-
-
-
3Gain-
WDR60-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR82-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP3-
-
-
-
1Loss-
WNK1-
-
-
-
3Gain-
WNT1-
-
-
-
3Gain-
WNT10B-
-
-
-
3Gain-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT5A-
-
-
-
3Gain-
WNT5B-
-
-
-
3Gain-
WNT7A-
-
-
-
3Gain-
WNT8A-
-
-
-
1Loss-
WRNIP1-
-
-
-
3Gain-
WSB2-
-
-
-
3Gain-
WSCD2-
-
-
-
3Gain-
WTAP-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWTR1-
-
-
-
3Gain-
XCR1-
-
-
-
3Gain-
XIRP1-
-
-
-
3Gain-
XKR6p.P573S
Missense
SNP
0.472
2--
XPC-
-
-
-
3Gain-
XPOT-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
XYLB-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YAF2-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YEATS2-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YIPF5-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YTHDC2-
-
-
-
1Loss-
YWHAG-
-
-
-
3Gain-
Z84488.2-
-
-
-
1Loss-
Z84492.1-
-
-
-
3Gain-
ZAN-
-
-
-
3Gain-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBED9-
-
-
-
3Gain-
ZBTB11-
-
-
-
3Gain-
ZBTB12-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB20-
-
-
-
3Gain-
ZBTB22-
-
-
-
3Gain-
ZBTB24-
-
-
-
1Loss-
ZBTB38-
-
-
-
3Gain-
ZBTB39-
-
-
-
3Gain-
ZBTB44-
-
-
-
1Loss-
ZBTB47-
-
-
-
3Gain-
ZBTB9-
-
-
-
3Gain-
ZC2HC1B-
-
-
-
1Loss-
ZC3H10-
-
-
-
3Gain-
ZC3H12D-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC8-
-
-
-
3Gain-
ZCRB1-
-
-
-
3Gain-
ZCWPW1-
-
-
-
3Gain-
ZCWPW2-
-
-
-
3Gain-
ZDHHC14-
-
-
-
1Loss-
ZDHHC17-
-
-
-
3Gain-
ZDHHC19-
-
-
-
3Gain-
ZDHHC21-
-
-
-
1Loss-
ZDHHC23-
-
-
-
3Gain-
ZDHHC3-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFHX4p.S2419F
Missense
SNP
0.475
2--
ZFP57-
-
-
-
3Gain-
ZFPM2p.S926F
Missense
SNP
0.429
2--
ZIC1-
-
-
-
3Gain-
ZIC4-
-
-
-
3Gain-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN3-
-
-
-
3Gain-
ZKSCAN4-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
3Gain-
ZKSCAN8-
-
-
-
3Gain-
ZMAT2-
-
-
-
1Loss-
ZMAT3-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMYND10-
-
-
-
3Gain-
ZNF10-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF140-
-
-
-
3Gain-
ZNF148-
-
-
-
3Gain-
ZNF165-
-
-
-
3Gain-
ZNF184-
-
-
-
3Gain-
ZNF197-
-
-
-
3Gain-
ZNF202-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF26-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF292-
-
-
-
1Loss-
ZNF3-
-
-
-
3Gain-
ZNF300-
-
-
-
1Loss-
ZNF311-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF322-
-
-
-
3Gain-
ZNF35-
-
-
-
3Gain-
ZNF384-
-
-
-
3Gain-
ZNF385A-
-
-
-
3Gain-
ZNF385D-
-
-
-
3Gain-
ZNF391-
-
-
-
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF425-
-
-
-
3Gain-
ZNF445-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF474-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF501-
-
-
-
3Gain-
ZNF502-
-
-
-
3Gain-
ZNF536p.D1179N
Missense
SNP
0.569
2--
ZNF589-
-
-
-
3Gain-
ZNF605-
-
-
-
3Gain-
ZNF608-
-
-
-
1Loss-
ZNF619-
-
-
-
3Gain-
ZNF620-
-
-
-
3Gain-
ZNF621-
-
-
-
3Gain-
ZNF639-
-
-
-
3Gain-
ZNF641-
-
-
-
3Gain-
ZNF654-
-
-
-
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF660-
-
-
-
3Gain-
ZNF662-
-
-
-
3Gain-
ZNF664-
-
-
-
3Gain-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF717-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF740-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF76-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF80-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804Bp.D590N
Missense
SNP
0.297
3Gain-
ZNF84-
-
-
-
3Gain-
ZNF852-
-
-
-
3Gain-
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF891-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRD1-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZPLD1-
-
-
-
3Gain-
ZSCAN12-
-
-
-
3Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN23-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN26-
-
-
-
3Gain-
ZSCAN31-
-
-
-
3Gain-
ZSCAN9-
-
-
-
3Gain-
ZUP1-
-
-
-
1Loss-
ZXDC-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-