PDMR-863532~251-R~J6UF51FU0-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
A4GALT-
-
-
-
1Loss-
A4GNT-
-
-
-
1Loss-
AAAS-
-
-
-
1Loss-
AACS-
-
-
-
1Loss-
AADAC-
-
-
-
1Loss-
AADACL2-
-
-
-
1Loss-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AASS-
-
-
-
3Gain-
ABCA13p.R4481K
Missense
SNP
0.724
2--
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
1Loss-
ABCC5-
-
-
-
1Loss-
ABCC9-
-
-
-
1Loss-
ABCD1p.I463M
Missense
SNP
1.000
NDND-
ABCD2-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABCF1-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABCF3-
-
-
-
1Loss-
ABCG4p.D319N
Missense
SNP
1.000
2--
ABHD1p.R191C
Missense
SNP
0.662
2--
ABHD10-
-
-
-
1Loss-
ABHD12-
-
-
-
3Gain-
ABHD12B-
-
-
-
1Loss-
ABHD16A-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD4-
-
-
-
1Loss-
ABI3BP-
-
-
-
1Loss-
ABLIM2p.S257F
Missense
SNP
0.690
2--
ABLIM3-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
3Gain-
ABRACL-
-
-
-
1Loss-
ABT1-
-
-
-
3Gain-
ABTB1-
-
-
-
1Loss-
AC002996.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC006064.6-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC007326.4-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC008012.1-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010197.2-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011604.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
3Gain-
AC012531.2-
-
-
-
1Loss-
AC020636.2-
-
-
-
1Loss-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC021660.3-
-
-
-
1Loss-
AC022335.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC023055.1-
-
-
-
1Loss-
AC023509.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC026316.5-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026786.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
1Loss-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
1Loss-
AC048338.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC068631.2-
-
-
-
1Loss-
AC068775.1-
-
-
-
1Loss-
AC069257.3-
-
-
-
1Loss-
AC069444.2-
-
-
-
1Loss-
AC069503.2-
-
-
-
1Loss-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
1Loss-
AC079594.2-
-
-
-
1Loss-
AC083800.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092111.3-
-
-
-
1Loss-
AC097104.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104472.3-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC112128.1-
-
-
-
1Loss-
AC112504.2-
-
-
-
1Loss-
AC116366.3-
-
-
-
1Loss-
AC117378.1-
-
-
-
1Loss-
AC117457.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131160.1-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC137834.1-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC142391.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
AC253536.7-
-
-
-
1Loss-
ACACB-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACAD11-
-
-
-
1Loss-
ACAD9-
-
-
-
1Loss-
ACADS-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACKR4-
-
-
-
1Loss-
ACO2-
-
-
-
1Loss-
ACOT1-
-
-
-
1Loss-
ACOT13-
-
-
-
3Gain-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOT8-
-
-
-
3Gain-
ACPP-
-
-
-
1Loss-
ACR-
-
-
-
1Loss-
ACRBP-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACSS3-
-
-
-
1Loss-
ACTL10-
-
-
-
3Gain-
ACTL6A-
-
-
-
1Loss-
ACTL7Ap.D75N
Missense
SNP
0.620
2--
ACTN1-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR5p.P401S
Missense
SNP
0.411
3Gain-
ACTR6-
-
-
-
1Loss-
ACTRT3-
-
-
-
1Loss-
ACVR1B-
-
-
-
1Loss-
ACVRL1-
-
-
-
1Loss-
ACYP1-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADA2-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM28p.G635R
Missense
SNP
0.432
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS20-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY4-
-
-
-
1Loss-
ADCY5-
-
-
-
1Loss-
ADCY6-
-
-
-
1Loss-
ADCY8-
-
-
-
3Gain-
ADGB-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRB3-
-
-
-
3Gain-
ADGRD1-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADGRG7-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADIG-
-
-
-
3Gain-
ADIPOQ-
-
-
-
1Loss-
ADIPOR2-
-
-
-
1Loss-
ADM2-
-
-
-
1Loss-
ADNP-
-
-
-
3Gain-
ADORA2A-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRH-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA1D-
-
-
-
3Gain-
ADRB2-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSL-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
ADTRP-
-
-
-
3Gain-
AEBP2-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AGAP2-
-
-
-
1Loss-
AGAP3-
-
-
-
3Gain-
AGAP6p.A43V
Missense
SNP
0.714
NDND-
AGBL3-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGO2-
-
-
-
3Gain-
AGPAT4-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGPSp.H187Y
Missense
SNP
0.795
2--
AGRNp.E903K
Missense
SNP
0.680
2--
AGTR1-
-
-
-
1Loss-
AHCY-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHI1-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHSA1-
-
-
-
1Loss-
AHSG-
-
-
-
1Loss-
AICDA-
-
-
-
1Loss-
AIF1-
-
-
-
3Gain-
AIFM3-
-
-
-
1Loss-
AIG1-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AJUBA-
-
-
-
1Loss-
AK7-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP3-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKIRIN2-
-
-
-
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKT1-
-
-
-
1Loss-
AL021546.1-
-
-
-
1Loss-
AL021997.3-
-
-
-
3Gain-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL024498.2-
-
-
-
3Gain-
AL031315.1-
-
-
-
1Loss-
AL031777.3-
-
-
-
3Gain-
AL035460.1-
-
-
-
3Gain-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL049697.1-
-
-
-
3Gain-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL109827.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
1Loss-
AL121594.1-
-
-
-
1Loss-
AL121722.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL121900.2-
-
-
-
3Gain-
AL132780.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL136531.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL159163.1-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL365232.1-
-
-
-
3Gain-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512428.1-
-
-
-
3Gain-
AL589666.1-
-
-
-
3Gain-
AL645922.1-
-
-
-
4Gain-
AL662899.1-
-
-
-
3Gain-
AL662899.2-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALDH16A1p.A779V
Missense
SNP
0.618
2--
ALDH1L1-
-
-
-
1Loss-
ALDH1L2-
-
-
-
1Loss-
ALDH2-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH5A1-
-
-
-
3Gain-
ALDH6A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALG10-
-
-
-
1Loss-
ALG10B-
-
-
-
1Loss-
ALG12-
-
-
-
1Loss-
ALG1L-
-
-
-
1Loss-
ALG1L2-
-
-
-
1Loss-
ALG3-
-
-
-
1Loss-
ALKAL1-
-
-
-
3Gain-
ALKBH1-
-
-
-
1Loss-
ALKBH2-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALX1-
-
-
-
1Loss-
AMDHD1-
-
-
-
1Loss-
AMHR2-
-
-
-
1Loss-
AMIGO2-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMN1-
-
-
-
1Loss-
AMOTL2-
-
-
-
1Loss-
ANAPC13-
-
-
-
1Loss-
ANAPC5-
-
-
-
1Loss-
ANAPC7-
-
-
-
1Loss-
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPT4-
-
-
-
3Gain-
ANHX-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANKEF1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKK1p.G334E
Missense
SNP
1.000
2--
ANKLE2-
-
-
-
1Loss-
ANKRD13A-
-
-
-
1Loss-
ANKRD33-
-
-
-
1Loss-
ANKRD46-
-
-
-
3Gain-
ANKRD52-
-
-
-
1Loss-
ANKRD54-
-
-
-
1Loss-
ANKRD6-
-
-
-
3Gain-
ANKRD60-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANKUB1-
-
-
-
1Loss-
ANO2-
-
-
-
1Loss-
ANO4-
-
-
-
1Loss-
ANO6-
-
-
-
1Loss-
ANP32D-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
ANXA6-
-
-
-
1Loss-
AOC1-
-
-
-
3Gain-
AP000350.4-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP2M1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP4S1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
AP5S1-
-
-
-
3Gain-
APAF1-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APCDD1L-
-
-
-
3Gain-
APEX1-
-
-
-
1Loss-
APMAP-
-
-
-
3Gain-
APOBp.K2403N
Missense
SNP
0.596
2--
APOBEC1-
-
-
-
1Loss-
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOD-
-
-
-
1Loss-
APOF-
-
-
-
1Loss-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APOLD1-
-
-
-
1Loss-
APOM-
-
-
-
3Gain-
APOPT1-
-
-
-
1Loss-
APPL2-
-
-
-
1Loss-
AQP2-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
ARAP3-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
AREL1-
-
-
-
1Loss-
ARF3-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARF6-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGAP3-
-
-
-
1Loss-
ARFGEF1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFGEF3-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARG2-
-
-
-
1Loss-
ARGFX-
-
-
-
1Loss-
ARHGAP23p.R470Q
Missense
DNP
0.638
2--
ARHGAP26-
-
-
-
1Loss-
ARHGAP31-
-
-
-
1Loss-
ARHGAP39-
-
-
-
3Gain-
ARHGAP40-
-
-
-
3Gain-
ARHGAP44-
-
-
-
1Loss-
ARHGAP5p.P974S
Missense
SNP
1.000
1Loss-
ARHGAP8-
-
-
-
1Loss-
ARHGAP9-
-
-
-
1Loss-
ARHGDIB-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF25-
-
-
-
1Loss-
ARHGEF26-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARID1B-
-
-
-
1Loss-
ARID2-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARIH2OSp.E104K
Missense
SNP
0.742
2--
ARL1-
-
-
-
1Loss-
ARL13B-
-
-
-
1Loss-
ARL14-
-
-
-
1Loss-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL6-
-
-
-
1Loss-
ARL6IP4-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC4p.X871_splice
Splice_Site
SNP
0.713
2--
ARMC8-
-
-
-
1Loss-
ARMH2-
-
-
-
3Gain-
ARMH4-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARNTp.P786L
Missense
SNP
0.581
2--
ARNTL2-
-
-
-
1Loss-
ARPC3-
-
-
-
1Loss-
ARSA-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ART4-
-
-
-
1Loss-
ARVCF-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB2-
-
-
-
1Loss-
ASB8-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASIC1-
-
-
-
1Loss-
ASIC3-
-
-
-
3Gain-
ASIP-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASPHD2-
-
-
-
1Loss-
ASTE1-
-
-
-
1Loss-
ASXL1-
-
-
-
3Gain-
ASZ1-
-
-
-
3Gain-
ATAD2-
-
-
-
3Gain-
ATAT1-
-
-
-
3Gain-
ATF1-
-
-
-
1Loss-
ATF4-
-
-
-
1Loss-
ATF7-
-
-
-
1Loss-
ATF7IP-
-
-
-
1Loss-
ATG101-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG2B-
-
-
-
1Loss-
ATG3-
-
-
-
1Loss-
ATG9B-
-
-
-
3Gain-
ATHL1p.S642F
Missense
SNP
0.427
NDND-
ATL1-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11B-
-
-
-
1Loss-
ATP13A3-
-
-
-
1Loss-
ATP13A4-
-
-
-
1Loss-
ATP13A5-
-
-
-
1Loss-
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
1Loss-
ATP23-
-
-
-
1Loss-
ATP2A2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2C1-
-
-
-
1Loss-
ATP5F1B-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5MC2-
-
-
-
1Loss-
ATP5MGL-
-
-
-
1Loss-
ATP5MPL-
-
-
-
1Loss-
ATP5S-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G2-
-
-
-
3Gain-
ATP6V1G2-DDX39B-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP9A-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATXN1-
-
-
-
3Gain-
ATXN10-
-
-
-
1Loss-
ATXN2-
-
-
-
1Loss-
ATXN3-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AVIL-
-
-
-
1Loss-
AVP-
-
-
-
3Gain-
AVPR1A-
-
-
-
1Loss-
AWAT2p.P132S
Missense
SNP
1.000
NDND-
AZIN1-
-
-
-
3Gain-
B3GALNT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
3Gain-
B3GNT4-
-
-
-
1Loss-
B3GNT5-
-
-
-
1Loss-
B4GALNT1-
-
-
-
1Loss-
B4GALNT3-
-
-
-
1Loss-
B4GALT4-
-
-
-
1Loss-
B4GALT5-
-
-
-
3Gain-
B9D1-
-
-
-
1Loss-
BAALC-
-
-
-
3Gain-
BACH2-
-
-
-
3Gain-
BAG2-
-
-
-
3Gain-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAG6-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
1Loss-
BANF2-
-
-
-
3Gain-
BATF-
-
-
-
1Loss-
BAZ1A-
-
-
-
1Loss-
BAZ2A-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBX-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCAT1-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCHE-
-
-
-
1Loss-
BCKDHB-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L13-
-
-
-
1Loss-
BCL2L14-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
1Loss-
BCLAF1-
-
-
-
1Loss-
BCR-
-
-
-
1Loss-
BDH1-
-
-
-
1Loss-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND6-
-
-
-
3Gain-
BEST3-
-
-
-
1Loss-
BFSP1-
-
-
-
3Gain-
BFSP2-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BHLHE41-
-
-
-
1Loss-
BICD1-
-
-
-
1Loss-
BICDL1-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN2p.E541K
Missense
SNP
1.000
1Loss-
BIN3-
-
-
-
1Loss-
BIRC7-
-
-
-
3Gain-
BLCAP-
-
-
-
3Gain-
BLK-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S5-
-
-
-
3Gain-
BLOC1S5-TXNDC5-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BMP2-
-
-
-
3Gain-
BMP4-
-
-
-
1Loss-
BMP5-
-
-
-
3Gain-
BMP6-
-
-
-
3Gain-
BMP7-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BOC-
-
-
-
1Loss-
BOLA1-
-
-
-
0Del-
BOP1-
-
-
-
3Gain-
BORCS5-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPHL-
-
-
-
3Gain-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPIFC-
-
-
-
1Loss-
BRAFp.T470A
Missense
SNP
0.694
3Gain-
BRAP-
-
-
-
1Loss-
BRD1-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRI3BP-
-
-
-
1Loss-
BRMS1L-
-
-
-
1Loss-
BTBD11-
-
-
-
1Loss-
BTBD3-
-
-
-
3Gain-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BTLA-
-
-
-
1Loss-
BTN1A1-
-
-
-
3Gain-
BTN2A1-
-
-
-
3Gain-
BTN2A2-
-
-
-
3Gain-
BTN3A1-
-
-
-
3Gain-
BTN3A2-
-
-
-
3Gain-
BTN3A3-
-
-
-
3Gain-
BX005040.4-
-
-
-
NDNDCNTNAP3C--BX005040.4
C11orf42p.D332G
Missense
SNP
0.385
2--
C12orf10-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf4-
-
-
-
1Loss-
C12orf40-
-
-
-
1Loss-
C12orf42-
-
-
-
1Loss-
C12orf43-
-
-
-
1Loss-
C12orf45-
-
-
-
1Loss-
C12orf49-
-
-
-
1Loss-
C12orf50-
-
-
-
1Loss-
C12orf54-
-
-
-
1Loss-
C12orf56-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60-
-
-
-
1Loss-
C12orf65-
-
-
-
1Loss-
C12orf66-
-
-
-
1Loss-
C12orf71-
-
-
-
1Loss-
C12orf73-
-
-
-
1Loss-
C12orf75-
-
-
-
1Loss-
C12orf76-
-
-
-
1Loss-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C1QL4-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C2-
-
-
-
3Gain-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C20orf96-
-
-
-
3Gain-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD5-
-
-
-
1Loss-
C3AR1-
-
-
-
1Loss-
C3orf22-
-
-
-
1Loss-
C3orf30-
-
-
-
1Loss-
C3orf33-
-
-
-
1Loss-
C3orf52-
-
-
-
1Loss-
C3orf56-
-
-
-
1Loss-
C3orf58-
-
-
-
1Loss-
C3orf70-
-
-
-
1Loss-
C3orf80-
-
-
-
1Loss-
C3orf85-
-
-
-
1Loss-
C4A-
-
-
-
3Gain-
C4B-
-
-
-
3Gain-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf46-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf136-
-
-
-
3Gain-
C6orf15-
-
-
-
3Gain-
C6orf163-
-
-
-
3Gain-
C6orf201-
-
-
-
3Gain-
C6orf47-
-
-
-
3Gain-
C6orf48-
-
-
-
3Gain-
C6orf52-
-
-
-
3Gain-
C6orf62-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CABIN1-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CABP1-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CACNA1C-
-
-
-
1Loss-
CACNA1I-
-
-
-
1Loss-
CACNA2D3p.G546E
p.X1062_splice
Missense
Splice_Site
SNP
SNP
0.652
0.739
2--
CACNA2D4-
-
-
-
1Loss-
CACNB3-
-
-
-
1Loss-
CACNG2-
-
-
-
1Loss-
CADM2-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CAGE1-
-
-
-
3Gain-
CALB1-
-
-
-
3Gain-
CALCOCO1-
-
-
-
1Loss-
CALD1-
-
-
-
3Gain-
CALM1-
-
-
-
1Loss-
CALU-
-
-
-
3Gain-
CAMK2A-
-
-
-
1Loss-
CAMK2N2-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKK2-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAND1-
-
-
-
1Loss-
CAP2-
-
-
-
3Gain-
CAPRIN2-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CAPZA3-
-
-
-
1Loss-
CARD10-
-
-
-
1Loss-
CARMIL1-
-
-
-
3Gain-
CARMIL3-
-
-
-
1Loss-
CASC1-
-
-
-
1Loss-
CASKp.H531Y
Missense
SNP
1.000
NDND-
CASP2-
-
-
-
3Gain-
CASP8AP2-
-
-
-
3Gain-
CASRp.E931K
Missense
SNP
1.000
1Loss-
CASS4-
-
-
-
3Gain-
CASTOR1-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPERB-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CBFA2T2-
-
-
-
3Gain-
CBLB-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBX5-
-
-
-
1Loss-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC134-
-
-
-
1Loss-
CCDC136-
-
-
-
3Gain-
CCDC14-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC170p.I571N
Missense
SNP
0.621
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC184-
-
-
-
1Loss-
CCDC185p.R406C
Missense
SNP
0.681
2--
CCDC188-
-
-
-
1Loss-
CCDC191-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC39-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC50-
-
-
-
1Loss-
CCDC54-
-
-
-
1Loss-
CCDC58-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC60-
-
-
-
1Loss-
CCDC62-
-
-
-
1Loss-
CCDC63-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC77-
-
-
-
1Loss-
CCDC80-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCDC91-
-
-
-
1Loss-
CCDC92-
-
-
-
1Loss-
CCER1-
-
-
-
1Loss-
CCHCR1-
-
-
-
3Gain-
CCM2L-
-
-
-
3Gain-
CCNB1IP1-
-
-
-
1Loss-
CCND2-
-
-
-
1Loss-
CCNE2-
-
-
-
3Gain-
CCNG1-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNL1-
-
-
-
1Loss-
CCNT1-
-
-
-
1Loss-
CCR6-
-
-
-
1Loss-
CCT2-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CCZ1-
-
-
-
3Gain-
CD109-
-
-
-
3Gain-
CD14-
-
-
-
1Loss-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD200-
-
-
-
1Loss-
CD200R1-
-
-
-
1Loss-
CD200R1L-
-
-
-
1Loss-
CD27-
-
-
-
1Loss-
CD4-
-
-
-
1Loss-
CD40-
-
-
-
3Gain-
CD47-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD74-
-
-
-
1Loss-
CD80-
-
-
-
1Loss-
CD83-
-
-
-
3Gain-
CD86-
-
-
-
1Loss-
CD9-
-
-
-
1Loss-
CD93-
-
-
-
3Gain-
CD96-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC25C-
-
-
-
1Loss-
CDC42BPB-
-
-
-
1Loss-
CDC42EP1-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDCA2-
-
-
-
1Loss-
CDCA3-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH17-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH20p.Q371*
Nonsense
SNP
0.657
2--
CDH22-
-
-
-
3Gain-
CDH24-
-
-
-
1Loss-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH6-
-
-
-
3Gain-
CDH7p.R109K
Missense
SNP
0.649
2--
CDH9-
-
-
-
3Gain-
CDK16p.T568I
Missense
SNP
1.000
NDND-
CDK17-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK2AP1-
-
-
-
1Loss-
CDK4-
-
-
-
1Loss-
CDK5-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
3Gain-
CDKAL1-
-
-
-
3Gain-
CDKL1-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDPF1-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDSN-
-
-
-
3Gain-
CDV3-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDYL-
-
-
-
3Gain-
CEBPB-
-
-
-
3Gain-
CEBPD-
-
-
-
3Gain-
CEBPE-
-
-
-
1Loss-
CECR2-
-
-
-
1Loss-
CELA1-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CENPB-
-
-
-
3Gain-
CENPM-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP112p.X900_splice
Splice_Site
SNP
1.000
2--
CEP120-
-
-
-
1Loss-
CEP128-
-
-
-
1Loss-
CEP162-
-
-
-
3Gain-
CEP170B-
-
-
-
1Loss-
CEP19-
-
-
-
1Loss-
CEP250-
-
-
-
3Gain-
CEP290-
-
-
-
1Loss-
CEP41-
-
-
-
3Gain-
CEP63-
-
-
-
1Loss-
CEP70-
-
-
-
1Loss-
CEP83-
-
-
-
1Loss-
CEP97-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERK-
-
-
-
1Loss-
CERS5-
-
-
-
1Loss-
CFAP100-
-
-
-
1Loss-
CFAP206-
-
-
-
3Gain-
CFAP44-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP54-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP73-
-
-
-
1Loss-
CFB-
-
-
-
4Gain-
CFL2-
-
-
-
1Loss-
CFTR-
-
-
-
3Gain-
CGA-
-
-
-
3Gain-
CGAS-
-
-
-
3Gain-
CGRRF1-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD3-
-
-
-
3Gain-
CHCHD6-
-
-
-
1Loss-
CHCHD7-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHD6-
-
-
-
3Gain-
CHD7-
-
-
-
3Gain-
CHD8-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHFR-
-
-
-
1Loss-
CHGA-
-
-
-
1Loss-
CHGB-
-
-
-
3Gain-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHMP7-
-
-
-
1Loss-
CHPF2-
-
-
-
3Gain-
CHPT1-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRD-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRNA2-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA6-
-
-
-
1Loss-
CHRNA9p.E413K
Missense
SNP
0.717
2--
CHRNB1-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHST11-
-
-
-
1Loss-
CHST13-
-
-
-
1Loss-
CHST2-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIDEB-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIP2A-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIT-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKAP4-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCN2-
-
-
-
1Loss-
CLCN7p.P719S
Missense
SNP
0.658
2--
CLDN1-
-
-
-
1Loss-
CLDN11-
-
-
-
1Loss-
CLDN16-
-
-
-
1Loss-
CLDN18-
-
-
-
1Loss-
CLDN20-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN5p.D296N
Missense
SNP
0.988
1Loss-
CLDN7-
-
-
-
1Loss-
CLDND1-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLIC1-
-
-
-
3Gain-
CLINT1-
-
-
-
1Loss-
CLIP1-
-
-
-
1Loss-
CLK3p.R82Q
Missense
SNP
0.704
2--
CLLU1OS-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLRN1-
-
-
-
1Loss-
CLSTN2-
-
-
-
1Loss-
CLSTN3-
-
-
-
1Loss-
CLTCL1-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CLVS1p.D149N
Missense
SNP
0.758
3Gain-
CMA1-
-
-
-
1Loss-
CMAS-
-
-
-
1Loss-
CMKLR1-
-
-
-
1Loss-
CMSS1-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CNBD1-
-
-
-
3Gain-
CNBD2-
-
-
-
3Gain-
CNBP-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNIH1-
-
-
-
1Loss-
CNKSR3-
-
-
-
1Loss-
CNOT2-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT7-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY2-
-
-
-
1Loss-
CNR1-
-
-
-
3Gain-
CNTN1-
-
-
-
1Loss-
CNTNAP2-
-
-
-
5Amp-
CNTNAP3C-
-
-
-
2-CNTNAP3C--BX005040.4
CNTROB-
-
-
-
1Loss-
COCH-
-
-
-
1Loss-
COL12A1-
-
-
-
3Gain-
COL14A1p.E381K
Missense
SNP
0.749
3Gain-
COL19A1-
-
-
-
3Gain-
COL20A1p.Q169*
Nonsense
SNP
0.500
3Gain-
COL21A1-
-
-
-
3Gain-
COL22A1-
-
-
-
3Gain-
COL23A1p.X433_splice
Splice_Site
SNP
0.647
2--
COL28A1p.S986F
Missense
SNP
0.688
2--
COL2A1-
-
-
-
1Loss-
COL6A5-
-
-
-
1Loss-
COL6A6-
-
-
-
1Loss-
COL7A1p.G1383E
Missense
SNP
0.635
2--
COL8A1-
-
-
-
1Loss-
COL9A1-
-
-
-
3Gain-
COL9A3-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COMMD2-
-
-
-
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COMT-
-
-
-
1Loss-
COPB2-
-
-
-
1Loss-
COPG1-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COPS7A-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ5-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
CORO1C-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX17-
-
-
-
1Loss-
COX4I2-
-
-
-
3Gain-
COX6A1-
-
-
-
1Loss-
COX6C-
-
-
-
3Gain-
COX7A2-
-
-
-
3Gain-
COX8C-
-
-
-
1Loss-
CP-
-
-
-
1Loss-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3-
-
-
-
1Loss-
CPA4p.A282T
Missense
SNP
0.674
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPB1-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPM-
-
-
-
1Loss-
CPN2-
-
-
-
1Loss-
CPNE1-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPNE4-
-
-
-
1Loss-
CPNE6-
-
-
-
1Loss-
CPNE8-
-
-
-
1Loss-
CPOX-
-
-
-
1Loss-
CPQ-
-
-
-
3Gain-
CPSF1-
-
-
-
3Gain-
CPSF2-
-
-
-
1Loss-
CPSF6-
-
-
-
1Loss-
CPT1B-
-
-
-
1Loss-
CPXM1-
-
-
-
3Gain-
CRACR2A-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CREB3L2-
-
-
-
3Gain-
CREBL2-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRISPLD1-
-
-
-
3Gain-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CRY1-
-
-
-
1Loss-
CRY2p.M565I
Missense
SNP
0.416
2--
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYBG3-
-
-
-
1Loss-
CRYGCp.R77C
Missense
SNP
0.635
2--
CRYGN-
-
-
-
3Gain-
CRYGS-
-
-
-
1Loss-
CS-
-
-
-
1Loss-
CSAD-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSE1L-
-
-
-
3Gain-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF2RBp.R63C
Missense
SNP
0.981
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSMD1-
-
-
-
1Loss-
CSMD2p.D850N
Missense
SNP
0.670
2--
CSMD3p.D1646N
Missense
SNP
0.811
4Gain-
CSNK1A1-
-
-
-
1Loss-
CSNK1E-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSNK2B-
-
-
-
3Gain-
CSPP1-
-
-
-
3Gain-
CSRNP2-
-
-
-
1Loss-
CSRP2-
-
-
-
1Loss-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTA-
-
-
-
1Loss-
CSTF1-
-
-
-
3Gain-
CSTL1-
-
-
-
3Gain-
CTAGE15p.E412K
Missense
SNP
0.542
NDND-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTC1-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTDNEP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTNNA1-
-
-
-
1Loss-
CTNNA3p.S104L
Missense
SNP
0.681
2--
CTNNBL1-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTSZ-
-
-
-
3Gain-
CTTNBP2-
-
-
-
3Gain-
CTXN3-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUX2-
-
-
-
1Loss-
CXCL14p.S2F
Missense
SNP
1.000
1Loss-
CXCR6p.S188F
Missense
SNP
0.732
2--
CXXC5-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYB5R4-
-
-
-
3Gain-
CYC1-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYHR1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP21A2-
-
-
-
3Gain-
CYP24A1-
-
-
-
3Gain-
CYP27B1-
-
-
-
1Loss-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP46A1-
-
-
-
1Loss-
CYP7A1p.K70E
Missense
SNP
0.783
3Gain-
CYP7B1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYSTM1-
-
-
-
1Loss-
CYTH4-
-
-
-
1Loss-
DAAM1-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DACT2-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAO-
-
-
-
1Loss-
DAOA-
-
-
-
3Gain-
DAZAP2-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBR1-
-
-
-
1Loss-
DBX2-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF13-
-
-
-
3Gain-
DCAF4-
-
-
-
1Loss-
DCAF4L2-
-
-
-
3Gain-
DCAF5-
-
-
-
1Loss-
DCANP1-
-
-
-
1Loss-
DCBLD2-
-
-
-
1Loss-
DCD-
-
-
-
1Loss-
DCDC1p.E322K
Missense
SNP
0.355
2--
DCDC2-
-
-
-
3Gain-
DCLK3p.L543F
Missense
SNP
0.667
2--
DCN-
-
-
-
1Loss-
DCP1B-
-
-
-
1Loss-
DCSTAMP-
-
-
-
3Gain-
DCTN2-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCUN1D1-
-
-
-
1Loss-
DDAH2-
-
-
-
3Gain-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDIT3-
-
-
-
1Loss-
DDN-
-
-
-
1Loss-
DDR1-
-
-
-
3Gain-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX11-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX23-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX27-
-
-
-
3Gain-
DDX39B-
-
-
-
3Gain-
DDX43-
-
-
-
3Gain-
DDX46-
-
-
-
1Loss-
DDX47-
-
-
-
1Loss-
DDX51-
-
-
-
1Loss-
DDX54-
-
-
-
1Loss-
DDX55-
-
-
-
1Loss-
DECR1-
-
-
-
3Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS2-
-
-
-
1Loss-
DEK-
-
-
-
3Gain-
DELE1-
-
-
-
1Loss-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND5B-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DENR-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERA-
-
-
-
1Loss-
DERL1-
-
-
-
3Gain-
DERL3-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKA-
-
-
-
1Loss-
DGKG-
-
-
-
1Loss-
DGKI-
-
-
-
3Gain-
DGKKp.D1157N
Missense
SNP
1.000
NDND-
DGLUCY-
-
-
-
1Loss-
DHFR2-
-
-
-
1Loss-
DHH-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX16-
-
-
-
3Gain-
DHX35-
-
-
-
3Gain-
DHX36-
-
-
-
1Loss-
DHX37-
-
-
-
1Loss-
DHX8p.L559F
Missense
DNP
1.000
2--
DIABLO-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIDO1-
-
-
-
3Gain-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DIRC2-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLC1p.A167T
Missense
SNP
0.482
1Loss-
DLD-
-
-
-
3Gain-
DLG1-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP2-
-
-
-
1Loss-
DLGAP4-
-
-
-
3Gain-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLL1-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMC1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAH10-
-
-
-
1Loss-
DNAH12p.P2222L
Missense
DNP
0.517
2--
DNAH2-
-
-
-
1Loss-
DNAH9-
-
-
-
1Loss-
DNAJB11-
-
-
-
1Loss-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
1Loss-
DNAJB8-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC13-
-
-
-
1Loss-
DNAJC14-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC19-
-
-
-
1Loss-
DNAJC22-
-
-
-
1Loss-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAL1-
-
-
-
1Loss-
DNAL4-
-
-
-
1Loss-
DND1-
-
-
-
1Loss-
DNM1L-
-
-
-
1Loss-
DNMT3B-
-
-
-
3Gain-
DNTTIP1-
-
-
-
3Gain-
DOC2B-
-
-
-
1Loss-
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK5-
-
-
-
3Gain-
DOP1A-
-
-
-
3Gain-
DPF3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPP6-
-
-
-
3Gain-
DPPA2-
-
-
-
1Loss-
DPPA3-
-
-
-
1Loss-
DPPA4-
-
-
-
1Loss-
DPPA5-
-
-
-
3Gain-
DPY19L2-
-
-
-
1Loss-
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DPYSL3-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD3-
-
-
-
1Loss-
DRG1-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSCC1-
-
-
-
3Gain-
DSN1-
-
-
-
3Gain-
DSP-
-
-
-
3Gain-
DST-
-
-
-
3Gain-
DSTN-
-
-
-
3Gain-
DTD1-
-
-
-
3Gain-
DTD2-
-
-
-
1Loss-
DTNBP1-
-
-
-
3Gain-
DTX1-
-
-
-
1Loss-
DTX3-
-
-
-
1Loss-
DTX3L-
-
-
-
1Loss-
DUSP15-
-
-
-
3Gain-
DUSP16-
-
-
-
1Loss-
DUSP18-
-
-
-
1Loss-
DUSP22-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP6-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
1Loss-
DXO-
-
-
-
4Gain-
DYNC1H1-
-
-
-
1Loss-
DYNLL1-
-
-
-
1Loss-
DYNLRB1-
-
-
-
3Gain-
DYNLT1-
-
-
-
1Loss-
DYRK2-
-
-
-
1Loss-
DYRK4-
-
-
-
1Loss-
DZANK1-
-
-
-
3Gain-
DZIP1L-
-
-
-
1Loss-
DZIP3-
-
-
-
1Loss-
E2F1-
-
-
-
3Gain-
E2F3-
-
-
-
3Gain-
E2F5-
-
-
-
3Gain-
E2F7-
-
-
-
1Loss-
EAF2-
-
-
-
1Loss-
EAPP-
-
-
-
1Loss-
EBAG9-
-
-
-
3Gain-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
EBF4-
-
-
-
3Gain-
ECE2-
-
-
-
1Loss-
ECI2-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECT2-
-
-
-
1Loss-
ECT2L-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM2-
-
-
-
3Gain-
EDN1-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EEA1-
-
-
-
1Loss-
EEF1A1-
-
-
-
3Gain-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT3-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
1Loss-
EEF1AKMT4-ECE2-
-
-
-
1Loss-
EEF1D-
-
-
-
3Gain-
EEF1E1-
-
-
-
3Gain-
EEF1E1-BLOC1S5-
-
-
-
3Gain-
EEFSEC-
-
-
-
1Loss-
EFCAB1-
-
-
-
3Gain-
EFCAB11-
-
-
-
1Loss-
EFCAB12-
-
-
-
1Loss-
EFCAB6-
-
-
-
1Loss-
EFCAB8-
-
-
-
3Gain-
EFCC1-
-
-
-
1Loss-
EFHC1-
-
-
-
3Gain-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFS-
-
-
-
1Loss-
EGFL6p.D345N
Missense
SNP
1.000
NDND-
EGFLAMp.R843H
Missense
SNP
0.147
2--
EGLN3-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHHADH-
-
-
-
1Loss-
EHMT2-
-
-
-
3Gain-
EID3-
-
-
-
1Loss-
EIF2A-
-
-
-
1Loss-
EIF2B1-
-
-
-
1Loss-
EIF2B2-
-
-
-
1Loss-
EIF2B5-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF2S2-
-
-
-
3Gain-
EIF2S3B-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF3L-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
1Loss-
EIF4B-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4G1-
-
-
-
1Loss-
EIF5-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
1Loss-
EIF6-
-
-
-
3Gain-
ELAC2-
-
-
-
1Loss-
ELFN2-
-
-
-
1Loss-
ELK3-
-
-
-
1Loss-
ELMO2-
-
-
-
3Gain-
ELMSAN1-
-
-
-
1Loss-
ELOC-
-
-
-
3Gain-
ELOVL2-
-
-
-
3Gain-
ELOVL4-
-
-
-
3Gain-
ELOVL5-
-
-
-
3Gain-
ELP3-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
EMC2-
-
-
-
3Gain-
EMC6-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMG1-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMILIN3-
-
-
-
3Gain-
EML1-
-
-
-
1Loss-
EML5-
-
-
-
1Loss-
EMP1-
-
-
-
1Loss-
EN2-
-
-
-
3Gain-
ENDOU-
-
-
-
1Loss-
ENO2-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENTHD1-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
ENTPD6-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EP300-
-
-
-
1Loss-
EP400-
-
-
-
1Loss-
EPB41L1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA6-
-
-
-
1Loss-
EPHB1-
-
-
-
1Loss-
EPHB3-
-
-
-
1Loss-
EPHB6-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPS8-
-
-
-
1Loss-
EPYC-
-
-
-
1Loss-
ERBB3-
-
-
-
1Loss-
ERC1-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERGIC2-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERH-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH3p.M577I
Missense
SNP
0.736
2--
ERICH5-
-
-
-
3Gain-
ERICH6-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERMARD-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERP27-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ERVFRD-1-
-
-
-
3Gain-
ESCO2-
-
-
-
1Loss-
ESF1-
-
-
-
3Gain-
ESPL1-
-
-
-
1Loss-
ESR1-
-
-
-
1Loss-
ESR2-
-
-
-
1Loss-
ESRP1-
-
-
-
3Gain-
ESRRB-
-
-
-
1Loss-
ESS2-
-
-
-
1Loss-
ESYT1-
-
-
-
1Loss-
ESYT2p.L867V
Missense
SNP
0.649
3Gain-
ESYT3-
-
-
-
1Loss-
ETF1-
-
-
-
1Loss-
ETFBKMT-
-
-
-
1Loss-
ETFRF1-
-
-
-
1Loss-
ETNK1-
-
-
-
1Loss-
ETV5-
-
-
-
1Loss-
ETV6-
-
-
-
1Loss-
EVL-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXD2-
-
-
-
1Loss-
EXOC2-
-
-
-
3Gain-
EXOC3L4-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC5-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXPH5p.S288F
Missense
SNP
0.996
2--
EXT1-
-
-
-
3Gain-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
3Gain-
EYA2-
-
-
-
3Gain-
EYS-
-
-
-
3Gain-
EZH2-
-
-
-
3Gain-
EZR-
-
-
-
1Loss-
F13A1-
-
-
-
3Gain-
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP6-
-
-
-
1Loss-
FABP9-
-
-
-
3Gain-
FAIM-
-
-
-
1Loss-
FAIM2-
-
-
-
1Loss-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM114A2-
-
-
-
1Loss-
FAM118A-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM131A-
-
-
-
1Loss-
FAM131B-
-
-
-
3Gain-
FAM135A-
-
-
-
3Gain-
FAM135B-
-
-
-
3Gain-
FAM13Ap.W708*
Nonsense
SNP
0.611
2--
FAM13B-
-
-
-
1Loss-
FAM155Bp.V232A
Missense
SNP
1.000
NDND-
FAM160B2-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM162A-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM179Ap.S818F
Missense
SNP
0.562
NDND-
FAM180A-
-
-
-
3Gain-
FAM181A-
-
-
-
1Loss-
FAM186A-
-
-
-
1Loss-
FAM186B-
-
-
-
1Loss-
FAM19A2-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM216A-
-
-
-
1Loss-
FAM217A-
-
-
-
3Gain-
FAM217B-
-
-
-
3Gain-
FAM222A-
-
-
-
1Loss-
FAM227A-
-
-
-
1Loss-
FAM234B-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM43A-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM50B-
-
-
-
3Gain-
FAM53C-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM71C-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM83A-
-
-
-
3Gain-
FAM83B-
-
-
-
3Gain-
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83F-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM8A1-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FANCM-
-
-
-
1Loss-
FAR2-
-
-
-
1Loss-
FARS2-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FASTKD5-
-
-
-
3Gain-
FAT2-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBLN1-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBRSL1-
-
-
-
1Loss-
FBXL14-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXO16-
-
-
-
1Loss-
FBXO21-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO30-
-
-
-
1Loss-
FBXO32-
-
-
-
3Gain-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO38-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO40-
-
-
-
1Loss-
FBXO43-
-
-
-
3Gain-
FBXO45-
-
-
-
1Loss-
FBXO5-
-
-
-
1Loss-
FBXO7-
-
-
-
1Loss-
FBXO9-
-
-
-
3Gain-
FBXW10-
-
-
-
1Loss-
FBXW8-
-
-
-
1Loss-
FCF1-
-
-
-
1Loss-
FCGR1A-
-
-
-
0Del-
FCGR2B-
-
-
-
1Loss-
FCGR2C-
-
-
-
1Loss-
FCGR3B-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCN3p.P90S
Missense
SNP
0.656
2--
FDFT1-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FERMT2-
-
-
-
1Loss-
FETUB-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FGD4-
-
-
-
1Loss-
FGD6-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF6-
-
-
-
1Loss-
FGF9p.E128K
Missense
SNP
0.234
2--
FGFR1-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FICD-
-
-
-
1Loss-
FIGNL2-
-
-
-
1Loss-
FILIP1-
-
-
-
3Gain-
FILIP1L-
-
-
-
1Loss-
FITM1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FKBP11-
-
-
-
1Loss-
FKBP1A-
-
-
-
3Gain-
FKBP1C-
-
-
-
3Gain-
FKBP3-
-
-
-
1Loss-
FKBP4-
-
-
-
1Loss-
FLCN-
-
-
-
1Loss-
FLG2p.G320E
Missense
SNP
0.681
2--
FLII-
-
-
-
1Loss-
FLNBp.P1101S
p.P1999S
Missense
Missense
SNP
SNP
0.625
0.618
2--
FLNC-
-
-
-
3Gain-
FLOT1-
-
-
-
3Gain-
FLRT3-
-
-
-
3Gain-
FLVCR2-
-
-
-
1Loss-
FMC1-
-
-
-
3Gain-
FMNL3-
-
-
-
1Loss-
FNDC1-
-
-
-
1Loss-
FNDC11-
-
-
-
3Gain-
FNDC3B-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FO393400.1-
-
-
-
3Gain-
FOS-
-
-
-
1Loss-
FOXA1-
-
-
-
1Loss-
FOXA2-
-
-
-
3Gain-
FOXC1-
-
-
-
3Gain-
FOXF2-
-
-
-
3Gain-
FOXG1-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXJ2-
-
-
-
1Loss-
FOXL2-
-
-
-
1Loss-
FOXL2NB-
-
-
-
1Loss-
FOXM1-
-
-
-
1Loss-
FOXN3-
-
-
-
1Loss-
FOXN4-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FOXQ1-
-
-
-
3Gain-
FOXRED2-
-
-
-
1Loss-
FOXS1-
-
-
-
3Gain-
FREM1-
-
-
-
1Loss-
FRMD1-
-
-
-
1Loss-
FRMD6-
-
-
-
1Loss-
FRMPD4p.D138N
Missense
SNP
1.000
NDND-
FRS2-
-
-
-
1Loss-
FSBP-
-
-
-
3Gain-
FSCB-
-
-
-
1Loss-
FSCN3-
-
-
-
3Gain-
FSTL1-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FXR1-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FYTTD1-
-
-
-
1Loss-
FZD10-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
G2E3-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
GAB4-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABBR1-
-
-
-
4Gain-
GABRA1-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRG1p.P3S
Missense
SNP
0.631
2--
GABRG2-
-
-
-
1Loss-
GABRR1-
-
-
-
3Gain-
GABRR2-
-
-
-
3Gain-
GABRR3-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GALC-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT16-
-
-
-
1Loss-
GALNT6-
-
-
-
1Loss-
GALNT8-
-
-
-
1Loss-
GALNT9-
-
-
-
1Loss-
GALNTL5-
-
-
-
3Gain-
GALR3-
-
-
-
1Loss-
GAP43-
-
-
-
1Loss-
GAPDH-
-
-
-
1Loss-
GARNL3p.G841E
Missense
DNP
0.608
2--
GAS2L1-
-
-
-
1Loss-
GAS2L3-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATA2-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATA5-
-
-
-
3Gain-
GATC-
-
-
-
1Loss-
GBE1-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCAT-
-
-
-
1Loss-
GCC1-
-
-
-
3Gain-
GCH1p.P86S
Missense
SNP
1.000
1Loss-
GCLC-
-
-
-
3Gain-
GCM1-
-
-
-
3Gain-
GCM2-
-
-
-
3Gain-
GCN1-
-
-
-
1Loss-
GCNT2-
-
-
-
3Gain-
GCNT7-
-
-
-
3Gain-
GCSAM-
-
-
-
1Loss-
GDAP1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDF11-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GDF9-
-
-
-
1Loss-
GEM-
-
-
-
3Gain-
GEMIN2-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GEMIN5-
-
-
-
1Loss-
GFM1-
-
-
-
1Loss-
GFOD1-
-
-
-
3Gain-
GFRA2-
-
-
-
1Loss-
GFRA3-
-
-
-
1Loss-
GFRA4-
-
-
-
3Gain-
GFRAL-
-
-
-
3Gain-
GGA1-
-
-
-
1Loss-
GGH-
-
-
-
3Gain-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GGTLC2-
-
-
-
1Loss-
GHRH-
-
-
-
3Gain-
GHSR-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GID8-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GINM1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS4-
-
-
-
1Loss-
GIT2-
-
-
-
1Loss-
GJA10-
-
-
-
3Gain-
GJB7-
-
-
-
3Gain-
GJE1-
-
-
-
1Loss-
GK5-
-
-
-
1Loss-
GLI1-
-
-
-
1Loss-
GLI4-
-
-
-
3Gain-
GLIPR1-
-
-
-
1Loss-
GLIPR1L1-
-
-
-
1Loss-
GLIPR1L2-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLS2-
-
-
-
1Loss-
GLT1D1-
-
-
-
1Loss-
GLT8D2-
-
-
-
1Loss-
GLTP-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMDS-
-
-
-
3Gain-
GMEB2-
-
-
-
3Gain-
GMFB-
-
-
-
1Loss-
GML-
-
-
-
3Gain-
GMNC-
-
-
-
1Loss-
GMNN-
-
-
-
3Gain-
GMPR-
-
-
-
3Gain-
GMPR2-
-
-
-
1Loss-
GMPS-
-
-
-
1Loss-
GNAS-
-
-
-
3Gain-
GNAZ-
-
-
-
1Loss-
GNB1L-
-
-
-
1Loss-
GNB3-
-
-
-
1Loss-
GNB4-
-
-
-
1Loss-
GNG2-
-
-
-
1Loss-
GNL1-
-
-
-
3Gain-
GNPDA1-
-
-
-
1Loss-
GNPNAT1-
-
-
-
1Loss-
GNPTAB-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GNRH2-
-
-
-
3Gain-
GNS-
-
-
-
1Loss-
GOLGA3-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLGB1-
-
-
-
1Loss-
GOLIM4-
-
-
-
1Loss-
GOLPH3-
-
-
-
3Gain-
GOLT1B-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GP5-
-
-
-
1Loss-
GP9-
-
-
-
1Loss-
GPAA1-
-
-
-
3Gain-
GPANK1-
-
-
-
3Gain-
GPAT4-
-
-
-
1Loss-
GPATCH2L-
-
-
-
1Loss-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPCPD1-
-
-
-
3Gain-
GPD1-
-
-
-
1Loss-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPIHBP1-
-
-
-
3Gain-
GPLD1-
-
-
-
3Gain-
GPN3-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137C-
-
-
-
1Loss-
GPR149-
-
-
-
1Loss-
GPR15-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR156-
-
-
-
1Loss-
GPR160-
-
-
-
1Loss-
GPR162-
-
-
-
1Loss-
GPR171-
-
-
-
1Loss-
GPR182-
-
-
-
1Loss-
GPR19-
-
-
-
1Loss-
GPR20-
-
-
-
3Gain-
GPR31-
-
-
-
1Loss-
GPR33-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR84-
-
-
-
1Loss-
GPR85-
-
-
-
3Gain-
GPR87-
-
-
-
1Loss-
GPRC5A-
-
-
-
1Loss-
GPRC5D-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPT-
-
-
-
3Gain-
GPX2-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX5-
-
-
-
3Gain-
GPX6-
-
-
-
3Gain-
GRAMD1C-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB7p.T12I
Missense
SNP
1.000
2--
GRHL2-
-
-
-
3Gain-
GRIA1-
-
-
-
1Loss-
GRIN2B-
-
-
-
1Loss-
GRIN3Bp.G34R
Missense
SNP
0.615
2--
GRINA-
-
-
-
3Gain-
GRIP1-
-
-
-
1Loss-
GRK3-
-
-
-
1Loss-
GRK7-
-
-
-
1Loss-
GRM1-
-
-
-
1Loss-
GRM8-
-
-
-
3Gain-
GRPEL2-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSC-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSG1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSK3B-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSS-
-
-
-
3Gain-
GSTA1-
-
-
-
3Gain-
GSTA2-
-
-
-
3Gain-
GSTA3-
-
-
-
3Gain-
GSTA4-
-
-
-
3Gain-
GSTA5-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2E1-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2H3-
-
-
-
1Loss-
GTF2H4-
-
-
-
3Gain-
GTF2H5-
-
-
-
1Loss-
GTF2IRD1p.P128S
Missense
SNP
0.709
2--
GTPBP1-
-
-
-
1Loss-
GTPBP8-
-
-
-
1Loss-
GTSE1-
-
-
-
1Loss-
GTSF1-
-
-
-
1Loss-
GTSF1L-
-
-
-
3Gain-
GUCA1C-
-
-
-
1Loss-
GUCD1-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GVQW2-
-
-
-
1Loss-
GXYLT1-
-
-
-
1Loss-
GYG1-
-
-
-
1Loss-
GYS2-
-
-
-
1Loss-
GZF1-
-
-
-
3Gain-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
H1F0-
-
-
-
1Loss-
H1FNT-
-
-
-
1Loss-
H1FOO-
-
-
-
1Loss-
H1FX-
-
-
-
1Loss-
H2AFJ-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H3F3C-
-
-
-
1Loss-
HACD2-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS2-
-
-
-
5Amp-
HASPIN-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HAX1p.P22S
Missense
SNP
0.661
2--
HBEGF-
-
-
-
1Loss-
HBG1p.G108E
Missense
SNP
0.587
2--
HCAR1-
-
-
-
1Loss-
HCAR2-
-
-
-
1Loss-
HCAR3p.V33M
Missense
SNP
1.000
1Loss-
HCFC2-
-
-
-
1Loss-
HCK-
-
-
-
3Gain-
HCLS1-
-
-
-
1Loss-
HCRTR2-
-
-
-
3Gain-
HDAC10-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC5p.A63T
Missense
DNP
1.000
2--
HDAC7-
-
-
-
1Loss-
HDGFL1-
-
-
-
3Gain-
HDHD5-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HEBP1-
-
-
-
1Loss-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HECTD4-
-
-
-
1Loss-
HEG1-
-
-
-
1Loss-
HELB-
-
-
-
1Loss-
HELZ2-
-
-
-
3Gain-
HES1-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HEY1-
-
-
-
3Gain-
HFE-
-
-
-
3Gain-
HGD-
-
-
-
1Loss-
HGH1-
-
-
-
3Gain-
HGSNAT-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HHLA1-
-
-
-
3Gain-
HHLA2-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
1Loss-
HIF1A-
-
-
-
1Loss-
HIGD1C-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINT1-
-
-
-
1Loss-
HIP1R-
-
-
-
1Loss-
HIPK2-
-
-
-
3Gain-
HIRA-
-
-
-
1Loss-
HIST1H1A-
-
-
-
3Gain-
HIST1H1B-
-
-
-
3Gain-
HIST1H1C-
-
-
-
3Gain-
HIST1H1D-
-
-
-
3Gain-
HIST1H1E-
-
-
-
3Gain-
HIST1H1T-
-
-
-
3Gain-
HIST1H2AAp.R36C
Missense
SNP
0.557
3Gain-
HIST1H2AB-
-
-
-
3Gain-
HIST1H2AC-
-
-
-
3Gain-
HIST1H2AD-
-
-
-
3Gain-
HIST1H2AE-
-
-
-
3Gain-
HIST1H2AG-
-
-
-
3Gain-
HIST1H2AH-
-
-
-
3Gain-
HIST1H2AI-
-
-
-
3Gain-
HIST1H2AJ-
-
-
-
3Gain-
HIST1H2AK-
-
-
-
3Gain-
HIST1H2AL-
-
-
-
3Gain-
HIST1H2AM-
-
-
-
3Gain-
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-
HIST2H2AA3-
-
-
-
0Del-
HIST2H2AA4-
-
-
-
0Del-
HIST2H2AB-
-
-
-
0Del-
HIST2H2AC-
-
-
-
0Del-
HIST2H2BE-
-
-
-
0Del-
HIST2H2BF-
-
-
-
0Del-
HIST2H3A-
-
-
-
0Del-
HIST2H3C-
-
-
-
0Del-
HIST2H3D-
-
-
-
0Del-
HIST2H4A-
-
-
-
0Del-
HIST2H4B-
-
-
-
0Del-
HIST4H4-
-
-
-
1Loss-
HIVEP1-
-
-
-
3Gain-
HIVEP2-
-
-
-
1Loss-
HLA-A-
-
-
-
3Gain-
HLA-B-
-
-
-
3Gain-
HLA-C-
-
-
-
3Gain-
HLA-E-
-
-
-
3Gain-
HLA-F-
-
-
-
3Gain-
HLA-G-
-
-
-
3Gain-
HLTF-
-
-
-
1Loss-
HM13-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMCES-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMGA2-
-
-
-
1Loss-
HMGCLL1-
-
-
-
3Gain-
HMGN3-
-
-
-
3Gain-
HMGN4-
-
-
-
3Gain-
HMGXB3-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HNF1A-
-
-
-
1Loss-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNRNPA0-
-
-
-
1Loss-
HNRNPA1-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HORMAD2-
-
-
-
1Loss-
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HPD-
-
-
-
1Loss-
HPS3-
-
-
-
1Loss-
HPS4-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRASLS-
-
-
-
1Loss-
HRG-
-
-
-
1Loss-
HRH3-
-
-
-
3Gain-
HRK-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD17B6-
-
-
-
1Loss-
HSF1-
-
-
-
3Gain-
HSP90AA1-
-
-
-
1Loss-
HSP90B1-
-
-
-
1Loss-
HSPA12B-
-
-
-
3Gain-
HSPA1A-
-
-
-
3Gain-
HSPA1B-
-
-
-
3Gain-
HSPA1L-
-
-
-
3Gain-
HSPA2-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB8-
-
-
-
1Loss-
HSPBAP1-
-
-
-
1Loss-
HTR1B-
-
-
-
3Gain-
HTR1E-
-
-
-
3Gain-
HTR3C-
-
-
-
1Loss-
HTR3D-
-
-
-
1Loss-
HTR3E-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HTR5A-
-
-
-
3Gain-
HTRA1p.D450H
Missense
SNP
0.244
2--
HTRA4-
-
-
-
1Loss-
HUS1B-
-
-
-
3Gain-
HVCN1-
-
-
-
1Loss-
HYAL4-
-
-
-
3Gain-
IAPP-
-
-
-
1Loss-
IBTK-
-
-
-
3Gain-
ICK-
-
-
-
3Gain-
ID1-
-
-
-
3Gain-
ID4-
-
-
-
3Gain-
IDH3B-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER3-
-
-
-
3Gain-
IFFO1-
-
-
-
1Loss-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFNG-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFT122-
-
-
-
1Loss-
IFT27-
-
-
-
1Loss-
IFT43-
-
-
-
1Loss-
IFT52-
-
-
-
3Gain-
IFT57-
-
-
-
1Loss-
IFT80-
-
-
-
1Loss-
IFT81-
-
-
-
1Loss-
IGF1-
-
-
-
1Loss-
IGF2BP2-
-
-
-
1Loss-
IGF2R-
-
-
-
1Loss-
IGFBP6-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IGIP-
-
-
-
1Loss-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF10-
-
-
-
1Loss-
IGSF11-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKBIP-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKZF4-
-
-
-
1Loss-
IL12A-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL17A-
-
-
-
3Gain-
IL17B-
-
-
-
1Loss-
IL17F-
-
-
-
3Gain-
IL17RA-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL1RAP-
-
-
-
1Loss-
IL20p.W19*
Nonsense
SNP
0.614
2--
IL20RA-
-
-
-
1Loss-
IL20RB-
-
-
-
1Loss-
IL22-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL23A-
-
-
-
1Loss-
IL25-
-
-
-
1Loss-
IL26-
-
-
-
1Loss-
IL2RB-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL7-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILDR1-
-
-
-
1Loss-
IMMP2L-
-
-
-
3Gain-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
IMPG1-
-
-
-
3Gain-
IMPG2-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
ING3-
-
-
-
3Gain-
ING4-
-
-
-
1Loss-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INSIG1-
-
-
-
3Gain-
INSM1-
-
-
-
3Gain-
INSM2-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS13-
-
-
-
1Loss-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
IPCEF1-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IPO8-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCD-
-
-
-
1Loss-
IQCG-
-
-
-
1Loss-
IQCJ-
-
-
-
1Loss-
IQCJ-SCHIP1-
-
-
-
1Loss-
IQSEC3-
-
-
-
1Loss-
IQUB-
-
-
-
3Gain-
IRAK1BP1-
-
-
-
3Gain-
IRAK3-
-
-
-
1Loss-
IRAK4-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2BPL-
-
-
-
1Loss-
IRF4-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF9-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
ISCA2-
-
-
-
1Loss-
ISCU-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ISM2-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISX-
-
-
-
1Loss-
ISY1-
-
-
-
1Loss-
ISY1-RAB43-
-
-
-
1Loss-
ITCH-
-
-
-
3Gain-
ITFG2-
-
-
-
1Loss-
ITGA4p.E193D
Missense
SNP
0.586
2--
ITGA5-
-
-
-
1Loss-
ITGA7p.A578V
Missense
SNP
1.000
1Loss-
ITGA9-
-
-
-
3Gain-
ITGAE-
-
-
-
1Loss-
ITGB5p.P111S
Missense
SNP
1.000
1Loss-
ITGB7-
-
-
-
1Loss-
ITK-
-
-
-
1Loss-
ITPA-
-
-
-
3Gain-
ITPK1-
-
-
-
1Loss-
ITPR2-
-
-
-
1Loss-
IVNS1ABP-
-
-
-
3Gain-
IYD-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAG2-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JARID2-
-
-
-
3Gain-
JDP2-
-
-
-
1Loss-
JKAMP-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JPH1p.P476S
Missense
SNP
0.799
3Gain-
JPH2-
-
-
-
3Gain-
JPH4-
-
-
-
1Loss-
JRK-
-
-
-
3Gain-
KAAG1-
-
-
-
3Gain-
KALRN-
-
-
-
1Loss-
KANSL2-
-
-
-
1Loss-
KAT14-
-
-
-
3Gain-
KAT6A-
-
-
-
1Loss-
KATNA1-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD12-
-
-
-
1Loss-
KCNA1-
-
-
-
1Loss-
KCNA5p.S562F
Missense
SNP
1.000
1Loss-
KCNA6-
-
-
-
1Loss-
KCNAB1-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCNC2-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCNG1-
-
-
-
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH3-
-
-
-
1Loss-
KCNH5-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ16p.Q164R
Missense
SNP
0.998
2--
KCNJ18-
-
-
-
1Loss-
KCNJ4-
-
-
-
1Loss-
KCNJ8-
-
-
-
1Loss-
KCNK10-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMB2-
-
-
-
1Loss-
KCNMB3-
-
-
-
1Loss-
KCNMB4-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNQ5-
-
-
-
3Gain-
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
3Gain-
KCP-
-
-
-
3Gain-
KCTD10-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELR3-
-
-
-
1Loss-
KDF1p.D292N
Missense
SNP
0.704
2--
KDM1B-
-
-
-
3Gain-
KDM2B-
-
-
-
1Loss-
KDM3B-
-
-
-
1Loss-
KDM5Ap.R719C
Missense
SNP
1.000
1Loss-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KEL-
-
-
-
3Gain-
KERA-
-
-
-
1Loss-
KHDC1-
-
-
-
3Gain-
KHDC1L-
-
-
-
3Gain-
KHDC3L-
-
-
-
3Gain-
KHDRBS2-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KHNYN-
-
-
-
1Loss-
KIAA0319-
-
-
-
3Gain-
KIAA0391-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0930-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1107p.E171K
Missense
SNP
0.729
NDND-
KIAA1147-
-
-
-
3Gain-
KIAA1217p.H497Y
Missense
SNP
0.671
2--
KIAA1257-
-
-
-
1Loss-
KIAA1549-
-
-
-
3Gain-
KIAA1551-
-
-
-
1Loss-
KIAA1586-
-
-
-
3Gain-
KIAA1614p.A106V
Missense
SNP
0.665
2--
KIAA1671-
-
-
-
1Loss-
KIAA1755-
-
-
-
3Gain-
KIF13A-
-
-
-
3Gain-
KIF13B-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF20A-
-
-
-
1Loss-
KIF21A-
-
-
-
1Loss-
KIF25-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF3B-
-
-
-
3Gain-
KIF4B-
-
-
-
1Loss-
KIF5A-
-
-
-
1Loss-
KIF6p.S702L
Missense
SNP
0.686
2--
KIFC2-
-
-
-
3Gain-
KISS1p.L13F
Missense
SNP
0.624
2--
KITLG-
-
-
-
1Loss-
KIZ-
-
-
-
3Gain-
KLC1-
-
-
-
1Loss-
KLF10-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF15-
-
-
-
1Loss-
KLHDC1-
-
-
-
1Loss-
KLHDC10-
-
-
-
3Gain-
KLHDC2-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL24-
-
-
-
1Loss-
KLHL28-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL31-
-
-
-
3Gain-
KLHL33-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL42-
-
-
-
1Loss-
KLHL6-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KLRK1-
-
-
-
1Loss-
KMT2C-
-
-
-
3Gain-
KMT2D-
-
-
-
1Loss-
KMT5A-
-
-
-
1Loss-
KNG1-
-
-
-
1Loss-
KNTC1-
-
-
-
1Loss-
KPNA1-
-
-
-
1Loss-
KPNA4-
-
-
-
1Loss-
KRAS-
-
-
-
1Loss-
KRBA1-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KRR1-
-
-
-
1Loss-
KRT1-
-
-
-
1Loss-
KRT18-
-
-
-
1Loss-
KRT2-
-
-
-
1Loss-
KRT3-
-
-
-
1Loss-
KRT4-
-
-
-
1Loss-
KRT5-
-
-
-
1Loss-
KRT6A-
-
-
-
1Loss-
KRT6B-
-
-
-
1Loss-
KRT6C-
-
-
-
1Loss-
KRT7-
-
-
-
1Loss-
KRT71-
-
-
-
1Loss-
KRT72-
-
-
-
1Loss-
KRT73-
-
-
-
1Loss-
KRT74-
-
-
-
1Loss-
KRT75-
-
-
-
1Loss-
KRT76-
-
-
-
1Loss-
KRT77-
-
-
-
1Loss-
KRT78-
-
-
-
1Loss-
KRT79-
-
-
-
1Loss-
KRT8-
-
-
-
1Loss-
KRT80-
-
-
-
1Loss-
KRT81-
-
-
-
1Loss-
KRT82-
-
-
-
1Loss-
KRT83-
-
-
-
1Loss-
KRT84-
-
-
-
1Loss-
KRT85-
-
-
-
1Loss-
KRT86-
-
-
-
1Loss-
KRT9p.G64E
Missense
SNP
0.743
2--
KSR2-
-
-
-
1Loss-
KTN1-
-
-
-
1Loss-
KY-
-
-
-
1Loss-
L2HGDH-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL1-
-
-
-
3Gain-
L3MBTL2-
-
-
-
1Loss-
LACRT-
-
-
-
1Loss-
LACTB2-
-
-
-
3Gain-
LAG3-
-
-
-
1Loss-
LALBA-
-
-
-
1Loss-
LAMA5-
-
-
-
3Gain-
LAMB1-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMP3-
-
-
-
1Loss-
LAMP5-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LARGE1-
-
-
-
1Loss-
LARP1-
-
-
-
1Loss-
LARP4-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LATS1-
-
-
-
1Loss-
LBP-
-
-
-
3Gain-
LCA5-
-
-
-
3Gain-
LDHB-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEKR1-
-
-
-
1Loss-
LEMD3-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LETMD1-
-
-
-
1Loss-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGR5-
-
-
-
1Loss-
LGSN-
-
-
-
3Gain-
LHX1p.D345N
Missense
SNP
1.000
2--
LHX5-
-
-
-
1Loss-
LIF-
-
-
-
1Loss-
LIMA1-
-
-
-
1Loss-
LIME1-
-
-
-
3Gain-
LIMK2-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN7A-
-
-
-
1Loss-
LIPH-
-
-
-
1Loss-
LKAAEAR1-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLPH-
-
-
-
1Loss-
LMBR1-
-
-
-
3Gain-
LMBR1L-
-
-
-
1Loss-
LMBRD1-
-
-
-
3Gain-
LMF2-
-
-
-
1Loss-
LMLN-
-
-
-
1Loss-
LMLN2-
-
-
-
1Loss-
LMNB1-
-
-
-
1Loss-
LMNTD1-
-
-
-
1Loss-
LMO3-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LMTK3p.E371K
Missense
SNP
0.680
2--
LNP1-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOX-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LPA-
-
-
-
1Loss-
LPAR5-
-
-
-
1Loss-
LPCAT3-
-
-
-
1Loss-
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LPP-
-
-
-
1Loss-
LRCH3-
-
-
-
1Loss-
LRCOL1-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRGUK-
-
-
-
3Gain-
LRIG3-
-
-
-
1Loss-
LRMP-
-
-
-
1Loss-
LRP1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRP12-
-
-
-
3Gain-
LRP1Bp.D239N
p.F217S
Missense
Missense
SNP
SNP
0.627
0.635
2--
LRP5L-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRR1-
-
-
-
1Loss-
LRRC1-
-
-
-
3Gain-
LRRC10-
-
-
-
1Loss-
LRRC14-
-
-
-
3Gain-
LRRC15-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC31-
-
-
-
1Loss-
LRRC34-
-
-
-
1Loss-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC43-
-
-
-
1Loss-
LRRC58-
-
-
-
1Loss-
LRRC6-
-
-
-
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC74B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LRRCC1-
-
-
-
3Gain-
LRRIQ1-
-
-
-
1Loss-
LRRIQ4-
-
-
-
1Loss-
LRRK2-
-
-
-
1Loss-
LRRN3-
-
-
-
3Gain-
LRRN4-
-
-
-
3Gain-
LRRTM2-
-
-
-
1Loss-
LRTM2-
-
-
-
1Loss-
LSAMP-
-
-
-
1Loss-
LSG1-
-
-
-
1Loss-
LSM1-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LSM14B-
-
-
-
3Gain-
LSM2-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LST1-
-
-
-
3Gain-
LTA-
-
-
-
3Gain-
LTA4H-
-
-
-
1Loss-
LTB-
-
-
-
3Gain-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBP4p.NT786KA
Missense
DNP
0.249
2--
LTBR-
-
-
-
1Loss-
LTV1-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LUM-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LXN-
-
-
-
1Loss-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6G5B-
-
-
-
3Gain-
LY6G5C-
-
-
-
3Gain-
LY6G6C-
-
-
-
3Gain-
LY6G6D-
-
-
-
3Gain-
LY6G6E-
-
-
-
3Gain-
LY6G6F-
-
-
-
3Gain-
LY6G6F-LY6G6D-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY86-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LYRM2-
-
-
-
3Gain-
LYRM4-
-
-
-
3Gain-
LYRM7-
-
-
-
1Loss-
LYZ-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
LZTS3-
-
-
-
3Gain-
M6PR-
-
-
-
1Loss-
MAATS1-
-
-
-
1Loss-
MACF1p.H4892Y
Missense
SNP
0.331
2--
MACROD2-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFB-
-
-
-
3Gain-
MAFF-
-
-
-
1Loss-
MAGEF1-
-
-
-
1Loss-
MAGOHB-
-
-
-
1Loss-
MAK-
-
-
-
3Gain-
MAK16-
-
-
-
1Loss-
MAL2-
-
-
-
3Gain-
MANBAL-
-
-
-
3Gain-
MANSC1-
-
-
-
1Loss-
MANSC4-
-
-
-
1Loss-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B2-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP3K12-
-
-
-
1Loss-
MAP3K13-
-
-
-
1Loss-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
3Gain-
MAP3K9-
-
-
-
1Loss-
MAP4K5-
-
-
-
1Loss-
MAP6D1-
-
-
-
1Loss-
MAP7-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK15-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
1Loss-
MAPRE1-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCH9-
-
-
-
1Loss-
MARK3-
-
-
-
1Loss-
MARS-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MAS1L-
-
-
-
4Gain-
MASP1-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATN2-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MATR3-
-
-
-
1Loss-
MAVS-
-
-
-
3Gain-
MAX-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MB21D2-
-
-
-
1Loss-
MBD4-
-
-
-
1Loss-
MBD6-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBNL1-
-
-
-
1Loss-
MBOAT1-
-
-
-
3Gain-
MBOAT4-
-
-
-
1Loss-
MC3R-
-
-
-
3Gain-
MCAT-
-
-
-
1Loss-
MCCC1-
-
-
-
1Loss-
MCCD1-
-
-
-
3Gain-
MCF2L2-
-
-
-
1Loss-
MCHR1-
-
-
-
1Loss-
MCM2-
-
-
-
1Loss-
MCM3-
-
-
-
3Gain-
MCM4-
-
-
-
3Gain-
MCM5-
-
-
-
1Loss-
MCM8-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCPH1-
-
-
-
1Loss-
MCRS1-
-
-
-
1Loss-
MCTS2P-
-
-
-
3Gain-
MCUR1-
-
-
-
3Gain-
MDC1-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDGA2-
-
-
-
1Loss-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
MDN1-
-
-
-
3Gain-
MDP1-
-
-
-
1Loss-
ME1-
-
-
-
3Gain-
ME3p.S398F
Missense
SNP
1.000
2--
MED12L-
-
-
-
1Loss-
MED13L-
-
-
-
1Loss-
MED15-
-
-
-
1Loss-
MED21-
-
-
-
1Loss-
MED30-
-
-
-
3Gain-
MED31-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEI1-
-
-
-
1Loss-
MEI4-
-
-
-
3Gain-
MELTF-
-
-
-
1Loss-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP2-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL25-
-
-
-
1Loss-
METTL2B-
-
-
-
3Gain-
METTL3-
-
-
-
1Loss-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFN1-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD1-
-
-
-
1Loss-
MFSD3-
-
-
-
3Gain-
MFSD4Ap.G71W
Missense
SNP
0.537
2--
MFSD5-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT2-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGLL-
-
-
-
1Loss-
MGME1-
-
-
-
3Gain-
MGP-
-
-
-
1Loss-
MGST1-
-
-
-
1Loss-
MIA2-
-
-
-
1Loss-
MICA-
-
-
-
3Gain-
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICB-
-
-
-
3Gain-
MICU3-
-
-
-
1Loss-
MIEF1-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MINDY4B-
-
-
-
1Loss-
MIOX-
-
-
-
1Loss-
MIP-
-
-
-
1Loss-
MIPOL1-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKL1p.S312F
Missense
SNP
0.980
NDND-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MLC1-
-
-
-
1Loss-
MLEC-
-
-
-
1Loss-
MLF1-
-
-
-
1Loss-
MLF2-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLIP-
-
-
-
3Gain-
MLXIP-
-
-
-
1Loss-
MLXIPLp.P495F
Missense
DNP
0.379
2--
MMAAp.R326C
Missense
SNP
0.738
2--
MMAB-
-
-
-
1Loss-
MME-
-
-
-
1Loss-
MMP11-
-
-
-
1Loss-
MMP14-
-
-
-
1Loss-
MMP16-
-
-
-
3Gain-
MMP17-
-
-
-
1Loss-
MMP19-
-
-
-
1Loss-
MMP24-
-
-
-
3Gain-
MMP9-
-
-
-
3Gain-
MN1-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOAP1-
-
-
-
1Loss-
MOCS3-
-
-
-
3Gain-
MOG-
-
-
-
3Gain-
MOK-
-
-
-
1Loss-
MON2-
-
-
-
1Loss-
MORC1-
-
-
-
1Loss-
MORC2-
-
-
-
1Loss-
MORN3-
-
-
-
1Loss-
MOS-
-
-
-
3Gain-
MOV10L1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
1Loss-
MPIG6B-
-
-
-
3Gain-
MPP5-
-
-
-
1Loss-
MPPED1-
-
-
-
1Loss-
MPRIPp.H896Y
Missense
SNP
1.000
1Loss-
MPST-
-
-
-
1Loss-
MRAP2-
-
-
-
3Gain-
MRAS-
-
-
-
1Loss-
MRGBP-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH8-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL18-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL3-
-
-
-
1Loss-
MRPL40-
-
-
-
1Loss-
MRPL42-
-
-
-
1Loss-
MRPL47-
-
-
-
1Loss-
MRPL51-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPS18B-
-
-
-
3Gain-
MRPS22-
-
-
-
1Loss-
MRPS26-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MRPS35-
-
-
-
1Loss-
MRS2-
-
-
-
3Gain-
MRTFA-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSH5-
-
-
-
3Gain-
MSH5-SAPCD1-
-
-
-
3Gain-
MSI1-
-
-
-
1Loss-
MSL2-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSRB3-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTBP-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF2-
-
-
-
1Loss-
MTERF3-
-
-
-
3Gain-
MTFP1-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTFR2-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTMR11-
-
-
-
0Del-
MTMR3-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTO1-
-
-
-
3Gain-
MTPN-
-
-
-
3Gain-
MTRF1L-
-
-
-
1Loss-
MTSS1-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MUC13-
-
-
-
1Loss-
MUC16p.A6331T
Missense
SNP
0.689
2--
MUC19-
-
-
-
1Loss-
MUC20-
-
-
-
1Loss-
MUC21-
-
-
-
3Gain-
MUC22-
-
-
-
3Gain-
MUC4-
-
-
-
1Loss-
MUCL1-
-
-
-
1Loss-
MUCL3-
-
-
-
3Gain-
MVK-
-
-
-
1Loss-
MYB-
-
-
-
0Del-
MYBL1-
-
-
-
3Gain-
MYBL2-
-
-
-
3Gain-
MYBPC1-
-
-
-
1Loss-
MYC-
-
-
-
3Gain-
MYCT1-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH15-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4p.R1451K
Missense
SNP
1.000
1Loss-
MYH6-
-
-
-
1Loss-
MYH7p.T1062I
Missense
SNP
1.000
1Loss-
MYH7B-
-
-
-
3Gain-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL2-
-
-
-
1Loss-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYL9-
-
-
-
3Gain-
MYLIP-
-
-
-
3Gain-
MYLK-
-
-
-
1Loss-
MYLK2-
-
-
-
3Gain-
MYLK4-
-
-
-
3Gain-
MYNN-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO15Bp.P1846S
Missense
SNP
0.630
2--
MYO18B-
-
-
-
1Loss-
MYO1A-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1H-
-
-
-
1Loss-
MYO6-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOM2-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYRFL-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
MZB1-
-
-
-
1Loss-
NAA20-
-
-
-
3Gain-
NAA25-
-
-
-
1Loss-
NAA30-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA50-
-
-
-
1Loss-
NAALADL2p.W496*
Nonsense
SNP
1.000
1Loss-
NAB2-
-
-
-
1Loss-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANP-
-
-
-
3Gain-
NAP1L1-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NAT1-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV1p.P910L
Missense
SNP
0.638
2--
NAV3-
-
-
-
1Loss-
NBEAp.S1577F
Missense
SNP
0.641
2--
NBN-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAM1p.G563R
Missense
SNP
0.448
2--
NCAPD2-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCAPH2-
-
-
-
1Loss-
NCBP2-
-
-
-
1Loss-
NCBP2-AS2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCEH1-
-
-
-
1Loss-
NCF4-
-
-
-
1Loss-
NCK1-
-
-
-
1Loss-
NCKAP1L-
-
-
-
1Loss-
NCKAP5L-
-
-
-
1Loss-
NCOA2-
-
-
-
3Gain-
NCOA3-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR1-
-
-
-
1Loss-
NCOR2-
-
-
-
1Loss-
NCR3-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG2-
-
-
-
1Loss-
NDRG3-
-
-
-
3Gain-
NDST1-
-
-
-
1Loss-
NDUFA12-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
1Loss-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
1Loss-
NDUFA9-
-
-
-
1Loss-
NDUFAF1p.R179P
Missense
SNP
0.667
2--
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFB1-
-
-
-
1Loss-
NDUFB2-
-
-
-
3Gain-
NDUFB4-
-
-
-
1Loss-
NDUFB5-
-
-
-
1Loss-
NDUFB9-
-
-
-
3Gain-
NECAB1-
-
-
-
3Gain-
NECAB3-
-
-
-
3Gain-
NECAP1-
-
-
-
1Loss-
NECTIN3-
-
-
-
1Loss-
NEDD1-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEDD9-
-
-
-
3Gain-
NEFH-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK11-
-
-
-
1Loss-
NEK9-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NELFE-
-
-
-
4Gain-
NELL2-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NEMP1-
-
-
-
1Loss-
NEPRO-
-
-
-
1Loss-
NEU1-
-
-
-
3Gain-
NEURL2-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NEUROD4-
-
-
-
1Loss-
NEUROG1-
-
-
-
1Loss-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFATC2-
-
-
-
3Gain-
NFATC4-
-
-
-
1Loss-
NFE2-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFKBIA-
-
-
-
1Loss-
NFKBIL1-
-
-
-
3Gain-
NFKBIZ-
-
-
-
1Loss-
NFS1-
-
-
-
3Gain-
NFYB-
-
-
-
1Loss-
NGBp.P52S
Missense
SNP
1.000
1Loss-
NGDN-
-
-
-
1Loss-
NHLRC1-
-
-
-
3Gain-
NHSL1-
-
-
-
1Loss-
NID2-
-
-
-
1Loss-
NIN-
-
-
-
1Loss-
NINJ2-
-
-
-
1Loss-
NINL-
-
-
-
3Gain-
NIPAL2-
-
-
-
3Gain-
NIPAL4-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
1Loss-
NIT2-
-
-
-
1Loss-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKAPL-
-
-
-
3Gain-
NKX2-1-
-
-
-
1Loss-
NKX2-2-
-
-
-
3Gain-
NKX2-4-
-
-
-
3Gain-
NKX2-6-
-
-
-
1Loss-
NKX2-8-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN1-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRC4p.V46M
Missense
DNP
0.607
2--
NLRP13p.P117S
Missense
SNP
0.628
2--
NMBR-
-
-
-
1Loss-
NMD3-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NME9-
-
-
-
1Loss-
NMNAT3-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NOBOXp.R360Q
Missense
SNP
0.766
3Gain-
NOC4L-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL4L-
-
-
-
3Gain-
NOL7-
-
-
-
3Gain-
NOL8p.S401L
Missense
SNP
0.761
2--
NOM1-
-
-
-
3Gain-
NOP2-
-
-
-
1Loss-
NOP56-
-
-
-
3Gain-
NOP9-
-
-
-
1Loss-
NOS1-
-
-
-
1Loss-
NOS3-
-
-
-
3Gain-
NOV-
-
-
-
3Gain-
NOVA1-
-
-
-
1Loss-
NOX3-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAS3-
-
-
-
1Loss-
NPBWR1-
-
-
-
3Gain-
NPBWR2-
-
-
-
3Gain-
NPC2-
-
-
-
1Loss-
NPEPL1-
-
-
-
3Gain-
NPFF-
-
-
-
1Loss-
NPHP3-
-
-
-
1Loss-
NPHP3-ACAD11-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPTXR-
-
-
-
1Loss-
NQO2-
-
-
-
3Gain-
NR1H4-
-
-
-
1Loss-
NR1I2-
-
-
-
1Loss-
NR2C1-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR4A1-
-
-
-
1Loss-
NRBP2-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRDE2-
-
-
-
1Loss-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRIP2-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRM-
-
-
-
3Gain-
NRN1-
-
-
-
3Gain-
NRROS-
-
-
-
1Loss-
NRSN1-
-
-
-
3Gain-
NRSN2-
-
-
-
3Gain-
NRXN2p.G1548R
Missense
SNP
0.579
2--
NRXN3-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSF-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSUN3-
-
-
-
1Loss-
NT5DC3-
-
-
-
1Loss-
NT5E-
-
-
-
3Gain-
NT5M-
-
-
-
1Loss-
NTF3-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTN4-
-
-
-
1Loss-
NTRK3p.D537N
Missense
SNP
0.690
2--
NTS-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NUAK1-
-
-
-
1Loss-
NUB1-
-
-
-
3Gain-
NUBPL-
-
-
-
1Loss-
NUDCD1-
-
-
-
3Gain-
NUDCD2-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT16-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT4-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUMB-
-
-
-
1Loss-
NUP107-
-
-
-
1Loss-
NUP153-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP210p.P1085L
Missense
SNP
0.642
2--
NUP37-
-
-
-
1Loss-
NUP43-
-
-
-
1Loss-
NUP50-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXPE3-
-
-
-
1Loss-
NXPH4-
-
-
-
1Loss-
NXT1-
-
-
-
3Gain-
NYNRIN-
-
-
-
1Loss-
OAS1-
-
-
-
1Loss-
OAS2-
-
-
-
1Loss-
OAS3-
-
-
-
1Loss-
OASL-
-
-
-
1Loss-
OC90-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCSTAMP-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
ODF3B-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGFOD2-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OGFRL1-
-
-
-
3Gain-
OLIG3-
-
-
-
1Loss-
OLR1-
-
-
-
1Loss-
OOEP-
-
-
-
3Gain-
OPA1-
-
-
-
1Loss-
OPLAH-
-
-
-
3Gain-
OPN1SW-
-
-
-
3Gain-
OPRK1-
-
-
-
3Gain-
OPRL1-
-
-
-
3Gain-
OPRM1-
-
-
-
1Loss-
OR10A7-
-
-
-
1Loss-
OR10AD1-
-
-
-
1Loss-
OR10C1-
-
-
-
4Gain-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10P1p.S87F
Missense
SNP
1.000
1Loss-
OR11A1-
-
-
-
4Gain-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR12D2-
-
-
-
4Gain-
OR12D3-
-
-
-
4Gain-
OR14J1-
-
-
-
4Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AP1-
-
-
-
1Loss-
OR2B2-
-
-
-
3Gain-
OR2B3-
-
-
-
3Gain-
OR2B6-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2H1-
-
-
-
4Gain-
OR2H2-
-
-
-
4Gain-
OR2J1-
-
-
-
4Gain-
OR2J2-
-
-
-
4Gain-
OR2J3-
-
-
-
4Gain-
OR2W1-
-
-
-
3Gain-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4C15p.P333S
Missense
SNP
0.537
2--
OR4C5p.R13K
Missense
SNP
0.417
2--
OR4E1-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR51B6p.P267S
Missense
SNP
0.575
2--
OR52I2p.G71E
Missense
SNP
0.566
2--
OR5A2p.P310L
Missense
SNP
0.590
2--
OR5AC2-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5BS1P-
-
-
-
1Loss-
OR5H1-
-
-
-
1Loss-
OR5H14-
-
-
-
1Loss-
OR5H15-
-
-
-
1Loss-
OR5H2-
-
-
-
1Loss-
OR5H6-
-
-
-
1Loss-
OR5K1-
-
-
-
1Loss-
OR5K2-
-
-
-
1Loss-
OR5K3-
-
-
-
1Loss-
OR5K4-
-
-
-
1Loss-
OR5V1-
-
-
-
4Gain-
OR6B1-
-
-
-
3Gain-
OR6C1p.S85L
Missense
SNP
1.000
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6J1-
-
-
-
1Loss-
OR6S1-
-
-
-
1Loss-
OR6T1p.S67F
Missense
SNP
0.553
2--
OR6V1-
-
-
-
3Gain-
OR7E47P-
-
-
-
1Loss-
OR8S1-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9K2-
-
-
-
1Loss-
ORAI1-
-
-
-
1Loss-
ORC3-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBP2-
-
-
-
1Loss-
OSBPL11-
-
-
-
1Loss-
OSBPL2-
-
-
-
3Gain-
OSBPL8-
-
-
-
1Loss-
OSER1-
-
-
-
3Gain-
OSGEP-
-
-
-
1Loss-
OSGIN2-
-
-
-
3Gain-
OSM-
-
-
-
1Loss-
OSR2-
-
-
-
3Gain-
OSTN-
-
-
-
1Loss-
OTOGL-
-
-
-
1Loss-
OTOL1-
-
-
-
1Loss-
OTOR-
-
-
-
3Gain-
OTUB2-
-
-
-
1Loss-
OTUD6B-
-
-
-
3Gain-
OTUD7B-
-
-
-
0Del-
OTX2-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVCH1-
-
-
-
1Loss-
OVOL2-
-
-
-
3Gain-
OXA1L-
-
-
-
1Loss-
OXR1-
-
-
-
3Gain-
OXT-
-
-
-
3Gain-
P2RX1-
-
-
-
1Loss-
P2RX2-
-
-
-
1Loss-
P2RX4-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6-
-
-
-
1Loss-
P2RX7-
-
-
-
1Loss-
P2RY1-
-
-
-
1Loss-
P2RY12-
-
-
-
1Loss-
P2RY13-
-
-
-
1Loss-
P2RY14-
-
-
-
1Loss-
P3H2-
-
-
-
1Loss-
P3H3-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
PA2G4-
-
-
-
1Loss-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PABPC4L-
-
-
-
3Gain-
PABPN1-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAG1-
-
-
-
3Gain-
PAH-
-
-
-
1Loss-
PAIP2-
-
-
-
1Loss-
PAK1IP1-
-
-
-
3Gain-
PAK2-
-
-
-
1Loss-
PAK5p.S231L
Missense
SNP
0.485
3Gain-
PAN2-
-
-
-
1Loss-
PANK2-
-
-
-
3Gain-
PANX2-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAQR8-
-
-
-
3Gain-
PAQR9-
-
-
-
1Loss-
PARD6B-
-
-
-
3Gain-
PARL-
-
-
-
1Loss-
PARP10-
-
-
-
3Gain-
PARP11-
-
-
-
1Loss-
PARP12p.S590A
Missense
SNP
0.839
3Gain-
PARP14-
-
-
-
1Loss-
PARP15-
-
-
-
1Loss-
PARP2-
-
-
-
1Loss-
PARP9-
-
-
-
1Loss-
PARPBP-
-
-
-
1Loss-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX1-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX9-
-
-
-
1Loss-
PAXIP1-
-
-
-
3Gain-
PBK-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP2-
-
-
-
1Loss-
PCCB-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH10-
-
-
-
3Gain-
PCDH12-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH18p.P374L
Missense
SNP
0.673
3Gain-
PCDH7-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3p.S417N
Missense
SNP
0.986
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6p.E144K
Missense
SNP
1.000
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
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-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5p.D795E
Missense
SNP
1.000
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-
PCED1A-
-
-
-
3Gain-
PCED1B-
-
-
-
1Loss-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCK2-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCMTD1-
-
-
-
3Gain-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
3Gain-
PCNP-
-
-
-
1Loss-
PCNX1-
-
-
-
1Loss-
PCNX4-
-
-
-
1Loss-
PCOLCE2-
-
-
-
1Loss-
PCSK2-
-
-
-
3Gain-
PCYOX1L-
-
-
-
1Loss-
PCYT1A-
-
-
-
1Loss-
PDCD10-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE1Ap.N268S
Missense
SNP
0.623
2--
PDE1Bp.R9K
Missense
SNP
1.000
1Loss-
PDE1Cp.R390Q
p.P79L
Missense
Missense
SNP
SNP
1.000
0.670
2--
PDE3A-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE6H-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDE7B-
-
-
-
1Loss-
PDGFB-
-
-
-
1Loss-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDIA5-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDRG1-
-
-
-
3Gain-
PDXP-
-
-
-
1Loss-
PDYN-
-
-
-
3Gain-
PDZD2-
-
-
-
3Gain-
PDZRN4-
-
-
-
1Loss-
PEBP1-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PELI2-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENK-
-
-
-
3Gain-
PER1-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PES1-
-
-
-
1Loss-
PET117-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PEX26-
-
-
-
1Loss-
PEX3-
-
-
-
1Loss-
PEX5-
-
-
-
1Loss-
PEX5L-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN4-
-
-
-
3Gain-
PFDN5-
-
-
-
1Loss-
PFKM-
-
-
-
1Loss-
PFN2-
-
-
-
1Loss-
PGAM5-
-
-
-
1Loss-
PGBD1-
-
-
-
3Gain-
PGF-
-
-
-
1Loss-
PGM3-
-
-
-
3Gain-
PHACTR1-
-
-
-
3Gain-
PHACTR2-
-
-
-
1Loss-
PHACTR3-
-
-
-
3Gain-
PHAX-
-
-
-
1Loss-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHC3-
-
-
-
1Loss-
PHETA1-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF10-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF20p.L213H
Missense
SNP
0.566
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF21B-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF3p.V1386D
Missense
SNP
0.534
3Gain-
PHF5A-
-
-
-
1Loss-
PHIP-
-
-
-
3Gain-
PHLDA1-
-
-
-
1Loss-
PHLDB2-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI3-
-
-
-
3Gain-
PI4KA-
-
-
-
1Loss-
PIANP-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PIF1p.R584W
Missense
SNP
0.657
2--
PIGH-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGX-
-
-
-
1Loss-
PIGZ-
-
-
-
1Loss-
PIK3C2G-
-
-
-
1Loss-
PIK3CA-
-
-
-
1Loss-
PIK3CB-
-
-
-
1Loss-
PIK3IP1-
-
-
-
1Loss-
PIK3R4-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP4K2C-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PIP4P2-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PITPNM2-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PITX3p.P24S
Missense
SNP
0.614
2--
PIWIL1-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKIG-
-
-
-
3Gain-
PKP2-
-
-
-
1Loss-
PLA1A-
-
-
-
1Loss-
PLA2G1B-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLAC8L1-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL1-
-
-
-
1Loss-
PLAGL2-
-
-
-
3Gain-
PLAT-
-
-
-
1Loss-
PLBD1-
-
-
-
1Loss-
PLBD2-
-
-
-
1Loss-
PLCB1-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCG1-
-
-
-
3Gain-
PLCH1-
-
-
-
1Loss-
PLCXD2-
-
-
-
1Loss-
PLCZ1-
-
-
-
1Loss-
PLD1-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEK2-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA5-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
3Gain-
PLEKHG1-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHG6-
-
-
-
1Loss-
PLEKHG7-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHO1-
-
-
-
0Del-
PLG-
-
-
-
1Loss-
PLOD2-
-
-
-
1Loss-
PLPBP-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLS1-
-
-
-
1Loss-
PLSCR1-
-
-
-
1Loss-
PLSCR2-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
1Loss-
PLSCR5-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLXNA1-
-
-
-
1Loss-
PLXNA4-
-
-
-
3Gain-
PLXNB2-
-
-
-
1Loss-
PLXNC1-
-
-
-
1Loss-
PLXND1-
-
-
-
1Loss-
PM20D2-
-
-
-
3Gain-
PMCH-
-
-
-
1Loss-
PMEL-
-
-
-
1Loss-
PMEPA1-
-
-
-
3Gain-
PMM1-
-
-
-
1Loss-
PMP2-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PNLDC1-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PNRC1-
-
-
-
3Gain-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
PODXL-
-
-
-
3Gain-
PODXL2-
-
-
-
1Loss-
POFUT1-
-
-
-
3Gain-
POGLUT1-
-
-
-
1Loss-
POLB-
-
-
-
1Loss-
POLDIP3-
-
-
-
1Loss-
POLE-
-
-
-
1Loss-
POLE2-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2H-
-
-
-
1Loss-
POLR2K-
-
-
-
3Gain-
POLR3B-
-
-
-
1Loss-
POLR3D-
-
-
-
1Loss-
POLR3F-
-
-
-
3Gain-
POLR3H-
-
-
-
1Loss-
POM121L2-
-
-
-
3Gain-
POMK-
-
-
-
1Loss-
POMT2-
-
-
-
1Loss-
POP1-
-
-
-
3Gain-
POP5-
-
-
-
1Loss-
POPDC2-
-
-
-
1Loss-
POT1-
-
-
-
3Gain-
POU4F3-
-
-
-
1Loss-
POU5F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
POU6F1-
-
-
-
1Loss-
PPARA-
-
-
-
1Loss-
PPARGp.D503N
Missense
DNP
0.615
2--
PPARGC1B-
-
-
-
1Loss-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
3Gain-
PPFIA2-
-
-
-
1Loss-
PPFIBP1-
-
-
-
1Loss-
PPHLN1-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPIL2-
-
-
-
1Loss-
PPIL4-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1F-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPM1L-
-
-
-
1Loss-
PPP1CC-
-
-
-
1Loss-
PPP1R10-
-
-
-
3Gain-
PPP1R11-
-
-
-
3Gain-
PPP1R12A-
-
-
-
1Loss-
PPP1R13B-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R16A-
-
-
-
3Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R18-
-
-
-
3Gain-
PPP1R1A-
-
-
-
1Loss-
PPP1R2-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R36-
-
-
-
1Loss-
PPP1R3Ap.M1095I
Missense
SNP
0.769
3Gain-
PPP1R3B-
-
-
-
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3E-
-
-
-
1Loss-
PPP1R3G-
-
-
-
3Gain-
PPP1R42-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R2B-
-
-
-
1Loss-
PPP2R3A-
-
-
-
1Loss-
PPP2R3C-
-
-
-
1Loss-
PPP2R5C-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP4R3A-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PPTC7-
-
-
-
1Loss-
PQLC2L-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRAME-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRDM10p.A53V
Missense
SNP
1.000
2--
PRDM14-
-
-
-
3Gain-
PRDM4-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRELID2-
-
-
-
1Loss-
PRELID3B-
-
-
-
3Gain-
PREX1-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE1-
-
-
-
1Loss-
PRIM1-
-
-
-
1Loss-
PRIM2-
-
-
-
3Gain-
PRIMA1-
-
-
-
1Loss-
PRKAB1-
-
-
-
1Loss-
PRKAG1-
-
-
-
1Loss-
PRKAG2-
-
-
-
3Gain-
PRKCH-
-
-
-
1Loss-
PRKCI-
-
-
-
1Loss-
PRKD1-
-
-
-
1Loss-
PRKDC-
-
-
-
3Gain-
PRKN-
-
-
-
1Loss-
PRL-
-
-
-
3Gain-
PRLRp.H407Y
Missense
SNP
0.680
2--
PRMT5-
-
-
-
1Loss-
PRMT8-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROB1-
-
-
-
1Loss-
PROCR-
-
-
-
3Gain-
PRODH-
-
-
-
1Loss-
PROKR2-
-
-
-
3Gain-
PROS1-
-
-
-
1Loss-
PROX2-
-
-
-
1Loss-
PRPF39-
-
-
-
1Loss-
PRPF40B-
-
-
-
1Loss-
PRPF4B-
-
-
-
3Gain-
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
1Loss-
PRPSAP2-
-
-
-
1Loss-
PRR13-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR18-
-
-
-
1Loss-
PRR23A-
-
-
-
1Loss-
PRR23B-
-
-
-
1Loss-
PRR23C-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR3-
-
-
-
3Gain-
PRR4-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRC2A-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS16-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS35-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS55-
-
-
-
1Loss-
PRSS56p.S206L
Missense
SNP
0.628
2--
PRSS58-
-
-
-
3Gain-
PSCA-
-
-
-
3Gain-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSG5p.P214S
Missense
SNP
0.829
2--
PSIP1-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA3-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMA7-
-
-
-
3Gain-
PSMB1-
-
-
-
1Loss-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMC1-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD2-
-
-
-
1Loss-
PSMD9-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSMF1-
-
-
-
3Gain-
PSMG4-
-
-
-
3Gain-
PSORS1C1-
-
-
-
3Gain-
PSORS1C2-
-
-
-
3Gain-
PTDSS1-
-
-
-
3Gain-
PTGDR-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGES3-
-
-
-
1Loss-
PTGIS-
-
-
-
3Gain-
PTGR2-
-
-
-
1Loss-
PTHLH-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTMS-
-
-
-
1Loss-
PTN-
-
-
-
3Gain-
PTP4A1-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN11-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN23p.R1301H
Missense
SNP
0.664
2--
PTPN6-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRB-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRN2-
-
-
-
3Gain-
PTPRO-
-
-
-
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTPRT-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTTG1-
-
-
-
1Loss-
PTX3-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
PURA-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PUS1-
-
-
-
1Loss-
PUS7L-
-
-
-
1Loss-
PVALB-
-
-
-
1Loss-
PWP1-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PXDC1-
-
-
-
3Gain-
PXDNLp.E1094*
Nonsense
SNP
0.734
3Gain-
PXMP2-
-
-
-
1Loss-
PXMP4-
-
-
-
3Gain-
PXN-
-
-
-
1Loss-
PXYLP1-
-
-
-
1Loss-
PYCR3-
-
-
-
3Gain-
PYDC2-
-
-
-
1Loss-
PYGB-
-
-
-
3Gain-
PYGL-
-
-
-
1Loss-
PYM1-
-
-
-
1Loss-
PYROXD1-
-
-
-
1Loss-
PZP-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QTRT2-
-
-
-
1Loss-
R3HCC1-
-
-
-
1Loss-
R3HDM2-
-
-
-
1Loss-
R3HDML-
-
-
-
3Gain-
RAB11FIP1-
-
-
-
1Loss-
RAB15-
-
-
-
1Loss-
RAB19-
-
-
-
3Gain-
RAB21-
-
-
-
1Loss-
RAB22A-
-
-
-
3Gain-
RAB23-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB2B-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB35-
-
-
-
1Loss-
RAB36-
-
-
-
1Loss-
RAB3IP-
-
-
-
1Loss-
RAB43-
-
-
-
1Loss-
RAB5B-
-
-
-
1Loss-
RAB5IF-
-
-
-
3Gain-
RAB6B-
-
-
-
1Loss-
RAB7A-
-
-
-
1Loss-
RABEP2p.C423Y
Missense
SNP
0.247
2--
RABGGTA-
-
-
-
1Loss-
RABL2B-
-
-
-
1Loss-
RABL3-
-
-
-
1Loss-
RAC2-
-
-
-
1Loss-
RACGAP1-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD21L1-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51AP1-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD52-
-
-
-
1Loss-
RAD54B-
-
-
-
3Gain-
RAD9B-
-
-
-
1Loss-
RAE1-
-
-
-
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAI1p.S1407F
Missense
SNP
1.000
1Loss-
RALGAPA1-
-
-
-
1Loss-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMACL-
-
-
-
1Loss-
RAN-
-
-
-
1Loss-
RANBP1-
-
-
-
1Loss-
RANBP9-
-
-
-
3Gain-
RANGAP1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1B-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2B-
-
-
-
1Loss-
RAPGEF3-
-
-
-
1Loss-
RAPGEF6-
-
-
-
1Loss-
RARG-
-
-
-
1Loss-
RARRES1-
-
-
-
1Loss-
RARRES2-
-
-
-
3Gain-
RARS2-
-
-
-
3Gain-
RASA2-
-
-
-
1Loss-
RASAL1-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RASSF3-
-
-
-
1Loss-
RASSF8-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RB1CC1-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFOX2-
-
-
-
1Loss-
RBL1-
-
-
-
3Gain-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM19-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM24-
-
-
-
3Gain-
RBM25-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBMS2-
-
-
-
1Loss-
RBP1-
-
-
-
1Loss-
RBP2-
-
-
-
1Loss-
RBP5p.T57P
Missense
SNP
1.000
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RD3L-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECQL-
-
-
-
1Loss-
RECQL4-
-
-
-
3Gain-
REEP2-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REG1Bp.S117F
Missense
SNP
0.640
2--
RELL2-
-
-
-
1Loss-
REM1-
-
-
-
3Gain-
REM2-
-
-
-
1Loss-
REP15-
-
-
-
1Loss-
REPIN1-
-
-
-
3Gain-
REPS1-
-
-
-
1Loss-
REREp.A736V
Missense
SNP
0.672
2--
RERG-
-
-
-
1Loss-
RERGL-
-
-
-
1Loss-
RESP18p.L148F
Missense
SNP
0.600
2--
RETNLB-
-
-
-
1Loss-
RFC4-
-
-
-
1Loss-
RFC5-
-
-
-
1Loss-
RFLNA-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFX4-
-
-
-
1Loss-
RGL4-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS17-
-
-
-
1Loss-
RGS19-
-
-
-
3Gain-
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS6-
-
-
-
1Loss-
RHBDD3-
-
-
-
1Loss-
RHEB-
-
-
-
3Gain-
RHEBL1-
-
-
-
1Loss-
RHNO1-
-
-
-
1Loss-
RHO-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOF-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHPN1-
-
-
-
3Gain-
RIBC2-
-
-
-
1Loss-
RIC8B-
-
-
-
1Loss-
RIDA-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RILPL1-
-
-
-
1Loss-
RILPL2-
-
-
-
1Loss-
RIMBP2-
-
-
-
1Loss-
RIMKLB-
-
-
-
1Loss-
RIMS1-
-
-
-
3Gain-
RIMS2-
-
-
-
3Gain-
RIMS4-
-
-
-
3Gain-
RIN2-
-
-
-
3Gain-
RIN3-
-
-
-
1Loss-
RIOK1-
-
-
-
3Gain-
RIOX1-
-
-
-
1Loss-
RIOX2-
-
-
-
1Loss-
RIPK1-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPK3-
-
-
-
1Loss-
RIPOR2-
-
-
-
3Gain-
RIPOR3-
-
-
-
3Gain-
RIPPLY2-
-
-
-
3Gain-
RITA1-
-
-
-
1Loss-
RMDN1-
-
-
-
3Gain-
RMND1-
-
-
-
1Loss-
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASET2-
-
-
-
1Loss-
RND1-
-
-
-
1Loss-
RNF10-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF122-
-
-
-
1Loss-
RNF13-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF14-
-
-
-
1Loss-
RNF141p.V64I
Missense
SNP
0.408
2--
RNF144B-
-
-
-
3Gain-
RNF145-
-
-
-
1Loss-
RNF148-
-
-
-
3Gain-
RNF168-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF182-
-
-
-
3Gain-
RNF185-
-
-
-
1Loss-
RNF19A-
-
-
-
3Gain-
RNF212B-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF31-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
1Loss-
RNF39-
-
-
-
3Gain-
RNF41-
-
-
-
1Loss-
RNF43p.P391L
Missense
SNP
0.669
2--
RNF7-
-
-
-
1Loss-
RNFT2-
-
-
-
1Loss-
RNGTT-
-
-
-
3Gain-
ROCK1-
-
-
-
3Gain-
ROMO1-
-
-
-
3Gain-
ROPN1-
-
-
-
1Loss-
ROPN1B-
-
-
-
1Loss-
RP1-
-
-
-
3Gain-
RP1L1-
-
-
-
1Loss-
RPA1-
-
-
-
1Loss-
RPAP3-
-
-
-
1Loss-
RPGRp.L56H
Missense
SNP
1.000
NDND-
RPGRIP1-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL10L-
-
-
-
1Loss-
RPL22L1-
-
-
-
1Loss-
RPL24-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL30-
-
-
-
3Gain-
RPL35A-
-
-
-
1Loss-
RPL36AL-
-
-
-
1Loss-
RPL39L-
-
-
-
1Loss-
RPL41-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPLP0-
-
-
-
1Loss-
RPN1-
-
-
-
1Loss-
RPN2-
-
-
-
3Gain-
RPP21-
-
-
-
3Gain-
RPP40-
-
-
-
3Gain-
RPRD1B-
-
-
-
3Gain-
RPS14-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS20-
-
-
-
3Gain-
RPS21-
-
-
-
3Gain-
RPS26-
-
-
-
1Loss-
RPS29-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RRAGD-
-
-
-
3Gain-
RRBP1-
-
-
-
3Gain-
RREB1-
-
-
-
3Gain-
RRM2B-
-
-
-
3Gain-
RRP7A-
-
-
-
1Loss-
RRS1-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH14-
-
-
-
1Loss-
RSPH3-
-
-
-
1Loss-
RSPO2-
-
-
-
3Gain-
RSPO4-
-
-
-
3Gain-
RSRC1-
-
-
-
1Loss-
RSRC2-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTL1-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN1-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP1-
-
-
-
1Loss-
RTP2-
-
-
-
1Loss-
RTP4-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RUBCN-
-
-
-
1Loss-
RUNX1T1-
-
-
-
3Gain-
RUVBL1-
-
-
-
1Loss-
RWDD2A-
-
-
-
3Gain-
RXFP2p.E77K
p.S380F
Missense
Missense
SNP
SNP
0.627
0.760
2--
RXYLT1-
-
-
-
1Loss-
RYK-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD12-
-
-
-
3Gain-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAMD7-
-
-
-
1Loss-
SAMHD1p.Q142*
Nonsense
SNP
0.446
3Gain-
SAMM50-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SAPCD1-
-
-
-
3Gain-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SART3-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SBF1-
-
-
-
1Loss-
SBNO1-
-
-
-
1Loss-
SBSPON-
-
-
-
3Gain-
SCAF11-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAND1-
-
-
-
3Gain-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARB1-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCFD1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCGN-
-
-
-
3Gain-
SCHIP1-
-
-
-
1Loss-
SCN8A-
-
-
-
1Loss-
SCNN1A-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCP2D1-
-
-
-
3Gain-
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCUBE1-
-
-
-
1Loss-
SCX-
-
-
-
3Gain-
SCYL2-
-
-
-
1Loss-
SDC2-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDCBP2-
-
-
-
3Gain-
SDF2L1-
-
-
-
1Loss-
SDHAF4-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SDR9C7-
-
-
-
1Loss-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC22A-
-
-
-
1Loss-
SEC23A-
-
-
-
1Loss-
SEC23B-
-
-
-
3Gain-
SEC24A-
-
-
-
1Loss-
SEC61A1-
-
-
-
1Loss-
SEC62-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SEL1L2-
-
-
-
3Gain-
SELENOM-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELENOT-
-
-
-
1Loss-
SELPLG-
-
-
-
1Loss-
SEMA5B-
-
-
-
1Loss-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP1-
-
-
-
1Loss-
SENP2-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
1Loss-
SENP6-
-
-
-
3Gain-
SENP7-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT8-
-
-
-
1Loss-
SERAC1-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC3-
-
-
-
3Gain-
SERP1-
-
-
-
1Loss-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB1-
-
-
-
3Gain-
SERPINB6-
-
-
-
3Gain-
SERPINB9-
-
-
-
3Gain-
SERPIND1-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPINI1-
-
-
-
1Loss-
SERPINI2-
-
-
-
1Loss-
SETD1B-
-
-
-
1Loss-
SETD3-
-
-
-
1Loss-
SEZ6L-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3B1p.P646S
Missense
SNP
0.570
2--
SF3B4-
-
-
-
0Del-
SF3B5-
-
-
-
1Loss-
SFI1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFSWAPp.Q954*
Nonsense
SNP
1.000
1Loss-
SFT2D1-
-
-
-
1Loss-
SFTA2-
-
-
-
3Gain-
SFTA3-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SGMS1p.E26K
Missense
SNP
0.629
2--
SGPP1-
-
-
-
1Loss-
SGSM1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SH2B3-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
3Gain-
SH3BP1-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHLD1-
-
-
-
3Gain-
SHMT1-
-
-
-
1Loss-
SHMT2-
-
-
-
1Loss-
SHOX2-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SIAH2-
-
-
-
1Loss-
SIDT1-
-
-
-
1Loss-
SIGLEC1-
-
-
-
3Gain-
SIL1-
-
-
-
1Loss-
SINHCAF-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT4-
-
-
-
1Loss-
SIRT5-
-
-
-
3Gain-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKIL-
-
-
-
1Loss-
SKIV2L-
-
-
-
4Gain-
SKP1-
-
-
-
1Loss-
SLA-
-
-
-
3Gain-
SLA2-
-
-
-
3Gain-
SLC10A1-
-
-
-
1Loss-
SLC10A2p.D3N
Missense
SNP
0.591
2--
SLC10A5-
-
-
-
3Gain-
SLC11A2-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A5-
-
-
-
3Gain-
SLC12A8-
-
-
-
1Loss-
SLC13A1-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC15A2-
-
-
-
1Loss-
SLC15A4-
-
-
-
1Loss-
SLC15A5-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A7-
-
-
-
1Loss-
SLC16A8-
-
-
-
1Loss-
SLC17A1-
-
-
-
3Gain-
SLC17A2-
-
-
-
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A5-
-
-
-
3Gain-
SLC17A8-
-
-
-
1Loss-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A1-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A23-
-
-
-
3Gain-
SLC22A3-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
-
-
1Loss-
SLC23A2-
-
-
-
3Gain-
SLC24A3-
-
-
-
3Gain-
SLC24A4-
-
-
-
1Loss-
SLC25A1-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A2-
-
-
-
1Loss-
SLC25A21-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A3-
-
-
-
1Loss-
SLC25A32-
-
-
-
3Gain-
SLC25A35-
-
-
-
1Loss-
SLC25A36-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC26A10-
-
-
-
1Loss-
SLC26A2-
-
-
-
1Loss-
SLC26A3-
-
-
-
3Gain-
SLC26A7-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC2A10-
-
-
-
3Gain-
SLC2A11-
-
-
-
1Loss-
SLC2A13-
-
-
-
1Loss-
SLC2A14p.F26Y
Missense
SNP
1.000
1Loss-
SLC2A2-
-
-
-
1Loss-
SLC2A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC33A1-
-
-
-
1Loss-
SLC35A1-
-
-
-
3Gain-
SLC35A4-
-
-
-
1Loss-
SLC35A5-
-
-
-
1Loss-
SLC35B3-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C2-
-
-
-
3Gain-
SLC35D3-
-
-
-
1Loss-
SLC35E3-
-
-
-
1Loss-
SLC35E4-
-
-
-
1Loss-
SLC35F4-
-
-
-
1Loss-
SLC35G2-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A1-
-
-
-
1Loss-
SLC36A2-
-
-
-
1Loss-
SLC36A3-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A1-
-
-
-
1Loss-
SLC38A2-
-
-
-
1Loss-
SLC38A4-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC39A5-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC41A2-
-
-
-
1Loss-
SLC41A3-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A4-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC48A1-
-
-
-
1Loss-
SLC4A11-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A8-
-
-
-
1Loss-
SLC4A9-
-
-
-
1Loss-
SLC51A-
-
-
-
1Loss-
SLC52A2-
-
-
-
3Gain-
SLC52A3-
-
-
-
3Gain-
SLC5A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A8-
-
-
-
1Loss-
SLC6A12-
-
-
-
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC7A11-
-
-
-
3Gain-
SLC7A13-
-
-
-
3Gain-
SLC7A14-
-
-
-
1Loss-
SLC7A2-
-
-
-
1Loss-
SLC7A4-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8A3-
-
-
-
1Loss-
SLC8B1-
-
-
-
1Loss-
SLC9A2p.M343I
Missense
SNP
0.606
2--
SLC9A8-
-
-
-
3Gain-
SLC9A9-
-
-
-
1Loss-
SLC9C1-
-
-
-
1Loss-
SLCO1A2-
-
-
-
1Loss-
SLCO1B1-
-
-
-
1Loss-
SLCO1B3-
-
-
-
1Loss-
SLCO1B7-
-
-
-
1Loss-
SLCO1C1-
-
-
-
1Loss-
SLCO2A1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLIRP-
-
-
-
1Loss-
SLIT3p.E878K
Missense
SNP
0.676
2--
SLITRK1-
-
-
-
3Gain-
SLITRK3-
-
-
-
1Loss-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLPI-
-
-
-
3Gain-
SLU7-
-
-
-
1Loss-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4IP-
-
-
-
3Gain-
SMAD5-
-
-
-
1Loss-
SMAGP-
-
-
-
1Loss-
SMAP1-
-
-
-
3Gain-
SMARCB1-
-
-
-
1Loss-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMARCD3-
-
-
-
3Gain-
SMC1B-
-
-
-
1Loss-
SMC4-
-
-
-
1Loss-
SMCO1-
-
-
-
1Loss-
SMCO2-
-
-
-
1Loss-
SMCO3-
-
-
-
1Loss-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMIM13-
-
-
-
3Gain-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM8-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMOC1-
-
-
-
1Loss-
SMOC2-
-
-
-
1Loss-
SMOX-
-
-
-
3Gain-
SMTN-
-
-
-
1Loss-
SMUG1-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
1Loss-
SNAP91-
-
-
-
3Gain-
SNAPC1-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNPH-
-
-
-
3Gain-
SNRNP35-
-
-
-
1Loss-
SNRNP48-
-
-
-
3Gain-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPD3-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNU13-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX14-
-
-
-
3Gain-
SNX16-
-
-
-
3Gain-
SNX2-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX24-
-
-
-
1Loss-
SNX31-
-
-
-
3Gain-
SNX4-
-
-
-
1Loss-
SNX5-
-
-
-
3Gain-
SNX6-
-
-
-
1Loss-
SNX9-
-
-
-
1Loss-
SOAT2-
-
-
-
1Loss-
SOCS2-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOGA1p.T444I
Missense
SNP
0.495
3Gain-
SORBS3-
-
-
-
1Loss-
SORL1p.E746K
p.G1745E
Missense
Missense
SNP
SNP
1.000
1.000
2--
SOS2-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOX10-
-
-
-
1Loss-
SOX12-
-
-
-
3Gain-
SOX14-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
3Gain-
SOX18-
-
-
-
3Gain-
SOX2-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
3Gain-
SOX5-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SP1-
-
-
-
1Loss-
SP7-
-
-
-
1Loss-
SPACA1-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG4-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPARC-
-
-
-
1Loss-
SPATA16-
-
-
-
1Loss-
SPATA2-
-
-
-
3Gain-
SPATA22-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA7-
-
-
-
1Loss-
SPATC1p.T427I
Missense
SNP
0.783
3Gain-
SPATS2-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPEF1-
-
-
-
3Gain-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPHK1p.R272L
Missense
SNP
1.000
2--
SPIC-
-
-
-
1Loss-
SPICE1-
-
-
-
1Loss-
SPIDR-
-
-
-
3Gain-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPO11-
-
-
-
3Gain-
SPOCK1-
-
-
-
1Loss-
SPPL3-
-
-
-
1Loss-
SPRY4-
-
-
-
1Loss-
SPRYD3-
-
-
-
1Loss-
SPRYD4-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPSB4-
-
-
-
1Loss-
SPTB-
-
-
-
1Loss-
SPTLC2-
-
-
-
1Loss-
SPTLC3-
-
-
-
3Gain-
SPTSSA-
-
-
-
1Loss-
SPTSSB-
-
-
-
1Loss-
SPX-
-
-
-
1Loss-
SQLE-
-
-
-
3Gain-
SRA1-
-
-
-
1Loss-
SRC-
-
-
-
3Gain-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SRGAP1-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP54-
-
-
-
1Loss-
SRPRB-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRD-
-
-
-
1Loss-
SRRM4-
-
-
-
1Loss-
SRSF12-
-
-
-
3Gain-
SRSF5-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRSF9-
-
-
-
1Loss-
SRXN1-
-
-
-
3Gain-
SS18L1-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSH1-
-
-
-
1Loss-
SSMEM1-
-
-
-
3Gain-
SSPN-
-
-
-
1Loss-
SSPOp.G3149R
Missense
SNP
0.781
3Gain-
SSR1-
-
-
-
3Gain-
SSR3-
-
-
-
1Loss-
SST-
-
-
-
1Loss-
SSTR1-
-
-
-
1Loss-
SSTR3-
-
-
-
1Loss-
SSTR4-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
ST13-
-
-
-
1Loss-
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST3GAL6-
-
-
-
1Loss-
ST6GAL1-
-
-
-
1Loss-
ST7-
-
-
-
3Gain-
ST8SIA1-
-
-
-
1Loss-
STAB2-
-
-
-
1Loss-
STAC3-
-
-
-
1Loss-
STAG1-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STAT2p.Q383*
Nonsense
SNP
1.000
1Loss-
STAT6-
-
-
-
1Loss-
STAU1-
-
-
-
3Gain-
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
1Loss-
STEAP4p.R237C
Missense
SNP
0.656
2--
STK19-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK32A-
-
-
-
1Loss-
STK35-
-
-
-
3Gain-
STK38L-
-
-
-
1Loss-
STK4-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STMND1-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STON2-
-
-
-
1Loss-
STRA8-
-
-
-
3Gain-
STRAP-
-
-
-
1Loss-
STRIP2-
-
-
-
3Gain-
STRN3-
-
-
-
1Loss-
STX11-
-
-
-
1Loss-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX19-
-
-
-
1Loss-
STX2-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
STXBP5L-
-
-
-
1Loss-
STXBP6-
-
-
-
1Loss-
STYK1-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
SUCNR1-
-
-
-
1Loss-
SUDS3-
-
-
-
1Loss-
SULF1-
-
-
-
3Gain-
SULF2-
-
-
-
3Gain-
SULT4A1-
-
-
-
1Loss-
SUMO4-
-
-
-
1Loss-
SUN2-
-
-
-
1Loss-
SUN5-
-
-
-
3Gain-
SUOX-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUSD2-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SV2A-
-
-
-
0Del-
SVOP-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SYBU-
-
-
-
3Gain-
SYCE3-
-
-
-
1Loss-
SYCP2-
-
-
-
3Gain-
SYCP2L-
-
-
-
3Gain-
SYCP3-
-
-
-
1Loss-
SYN3-
-
-
-
1Loss-
SYNCRIP-
-
-
-
3Gain-
SYNDIG1-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
1Loss-
SYNE1p.E948K
Missense
SNP
0.597
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNGR1-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT1-
-
-
-
1Loss-
SYT10-
-
-
-
1Loss-
SYT13p.S294F
p.P35L
Missense
Missense
SNP
SNP
0.538
0.446
2--
SYT16-
-
-
-
1Loss-
SYT9p.D135N
p.E160K
Missense
Missense
SNP
SNP
0.573
0.543
2--
SYTL3-
-
-
-
1Loss-
SZT2p.P1063S
Missense
SNP
0.687
2--
TAB1-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TAC3-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TAF2-
-
-
-
3Gain-
TAF4-
-
-
-
3Gain-
TAF7-
-
-
-
1Loss-
TAGAP-
-
-
-
1Loss-
TAGLN3-
-
-
-
1Loss-
TANGO2-
-
-
-
1Loss-
TAOK3-
-
-
-
1Loss-
TAPBPL-
-
-
-
1Loss-
TARBP2-
-
-
-
1Loss-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R3-
-
-
-
3Gain-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R42-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R5-
-
-
-
3Gain-
TAS2R50-
-
-
-
1Loss-
TAS2R60-
-
-
-
3Gain-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TASP1-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D15-
-
-
-
1Loss-
TBC1D20-
-
-
-
3Gain-
TBC1D22A-
-
-
-
1Loss-
TBC1D23-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D31-
-
-
-
3Gain-
TBC1D7-
-
-
-
3Gain-
TBCCD1-
-
-
-
1Loss-
TBK1-
-
-
-
1Loss-
TBL1XR1-
-
-
-
1Loss-
TBP-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBX1-
-
-
-
1Loss-
TBX18-
-
-
-
3Gain-
TBX2p.S36F
Missense
DNP
1.000
2--
TBX3-
-
-
-
1Loss-
TBX5-
-
-
-
1Loss-
TBXA2Rp.S7F
Missense
SNP
0.622
2--
TBXAS1-
-
-
-
3Gain-
TBXT-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA1-
-
-
-
3Gain-
TCEA2-
-
-
-
3Gain-
TCERG1-
-
-
-
1Loss-
TCF15-
-
-
-
3Gain-
TCF19-
-
-
-
3Gain-
TCF20-
-
-
-
1Loss-
TCF24-
-
-
-
3Gain-
TCF7-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHP-
-
-
-
1Loss-
TCIM-
-
-
-
1Loss-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCOF1-
-
-
-
1Loss-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCP11L2-
-
-
-
1Loss-
TCTE3-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
1Loss-
TCTN1-
-
-
-
1Loss-
TCTN2-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDP1-
-
-
-
1Loss-
TDP2-
-
-
-
3Gain-
TDRD9-
-
-
-
1Loss-
TDRP-
-
-
-
1Loss-
TEAD4-
-
-
-
1Loss-
TECPR2-
-
-
-
1Loss-
TECTAp.E1828K
Missense
SNP
0.360
2--
TEDC1-
-
-
-
1Loss-
TEF-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENT5A-
-
-
-
3Gain-
TEP1-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TESC-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX22-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX49-
-
-
-
1Loss-
TEX52-
-
-
-
1Loss-
TF-
-
-
-
1Loss-
TFAP2A-
-
-
-
3Gain-
TFAP2C-
-
-
-
3Gain-
TFB1M-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFDP2-
-
-
-
1Loss-
TFEC-
-
-
-
3Gain-
TFG-
-
-
-
1Loss-
TFIP11-
-
-
-
1Loss-
TFRC-
-
-
-
1Loss-
TG-
-
-
-
3Gain-
TGFB3-
-
-
-
1Loss-
TGFBI-
-
-
-
1Loss-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM1-
-
-
-
1Loss-
TGM2-
-
-
-
3Gain-
TGM3-
-
-
-
3Gain-
TGM6-
-
-
-
3Gain-
TGS1-
-
-
-
3Gain-
THAP1-
-
-
-
1Loss-
THAP2-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP7-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THBS2-
-
-
-
1Loss-
THEM6-
-
-
-
3Gain-
THG1L-
-
-
-
1Loss-
THOC5-
-
-
-
1Loss-
THPO-
-
-
-
1Loss-
THTPA-
-
-
-
1Loss-
TIAM2-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGAR-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIGD6-
-
-
-
1Loss-
TIGIT-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TIMELESS-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM9-
-
-
-
1Loss-
TIMMDC1-
-
-
-
1Loss-
TIMP3-
-
-
-
1Loss-
TINAGp.W2*
Nonsense
SNP
0.514
3Gain-
TINF2-
-
-
-
1Loss-
TIPARPp.R329Q
Missense
SNP
1.000
1Loss-
TLCD2-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TM2D2-
-
-
-
1Loss-
TM4SF1-
-
-
-
1Loss-
TM4SF18-
-
-
-
1Loss-
TM4SF19-
-
-
-
1Loss-
TM4SF19-TCTEX1D2-
-
-
-
1Loss-
TM4SF4-
-
-
-
1Loss-
TM7SF3-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TM9SF4-
-
-
-
3Gain-
TMBIM4-
-
-
-
1Loss-
TMBIM6-
-
-
-
1Loss-
TMC2-
-
-
-
3Gain-
TMCC1-
-
-
-
1Loss-
TMCC3-
-
-
-
1Loss-
TMCO6-
-
-
-
1Loss-
TMED10-
-
-
-
1Loss-
TMED2-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM106C-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM108-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM116-
-
-
-
1Loss-
TMEM117-
-
-
-
1Loss-
TMEM119-
-
-
-
1Loss-
TMEM120B-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM121B-
-
-
-
1Loss-
TMEM132B-
-
-
-
1Loss-
TMEM132C-
-
-
-
1Loss-
TMEM132D-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM14A-
-
-
-
3Gain-
TMEM14B-
-
-
-
3Gain-
TMEM14C-
-
-
-
3Gain-
TMEM168-
-
-
-
3Gain-
TMEM170B-
-
-
-
3Gain-
TMEM173-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM184B-
-
-
-
1Loss-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM19-
-
-
-
1Loss-
TMEM191B-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM207-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM212-
-
-
-
1Loss-
TMEM213-
-
-
-
3Gain-
TMEM220-
-
-
-
1Loss-
TMEM229A-
-
-
-
3Gain-
TMEM229B-
-
-
-
1Loss-
TMEM230-
-
-
-
3Gain-
TMEM233-
-
-
-
1Loss-
TMEM239-
-
-
-
3Gain-
TMEM242-
-
-
-
1Loss-
TMEM249-
-
-
-
3Gain-
TMEM251-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM263-
-
-
-
1Loss-
TMEM30A-
-
-
-
3Gain-
TMEM30B-
-
-
-
1Loss-
TMEM39A-
-
-
-
1Loss-
TMEM41A-
-
-
-
1Loss-
TMEM44-
-
-
-
1Loss-
TMEM45A-
-
-
-
1Loss-
TMEM45Bp.G250E
Missense
SNP
1.000
2--
TMEM52B-
-
-
-
1Loss-
TMEM63C-
-
-
-
1Loss-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM74B-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMPO-
-
-
-
1Loss-
TMPRSS12-
-
-
-
1Loss-
TMPRSS13p.Q245*
Nonsense
SNP
0.616
2--
TMPRSS6-
-
-
-
1Loss-
TMPRSS7-
-
-
-
1Loss-
TMTC1-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMUB1-
-
-
-
3Gain-
TMX1-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNF-
-
-
-
3Gain-
TNFAIP2-
-
-
-
1Loss-
TNFAIP3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
1Loss-
TNFRSF6B-
-
-
-
3Gain-
TNFSF10-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNIK-
-
-
-
1Loss-
TNIP1-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNNC2-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRC6B-
-
-
-
1Loss-
TNS2-
-
-
-
1Loss-
TNXB-
-
-
-
3Gain-
TOB2-
-
-
-
1Loss-
TOGARAM1-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM20L-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TOMM70-
-
-
-
1Loss-
TONSL-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
1Loss-
TOPBP1-
-
-
-
1Loss-
TOX-
-
-
-
3Gain-
TOX2-
-
-
-
3Gain-
TOX4-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53INP1-
-
-
-
3Gain-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP63p.P229L
Missense
SNP
1.000
1Loss-
TPBG-
-
-
-
3Gain-
TPCN1-
-
-
-
1Loss-
TPD52-
-
-
-
3Gain-
TPD52L2-
-
-
-
3Gain-
TPH2-
-
-
-
1Loss-
TPI1-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPMT-
-
-
-
3Gain-
TPPP2-
-
-
-
1Loss-
TPRA1-
-
-
-
1Loss-
TPRG1-
-
-
-
1Loss-
TPRNp.R82G
Missense
SNP
0.685
2--
TPST2-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TPX2-
-
-
-
3Gain-
TRA2B-
-
-
-
1Loss-
TRABD-
-
-
-
1Loss-
TRAF3-
-
-
-
1Loss-
TRAFD1-
-
-
-
1Loss-
TRAM1-
-
-
-
3Gain-
TRAM2-
-
-
-
3Gain-
TRAPPC1-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC9-
-
-
-
3Gain-
TRARG1-
-
-
-
1Loss-
TRAT1-
-
-
-
1Loss-
TRAV5p.X18_splice
Splice_Site
SNP
1.000
NDND-
TRDV1-
-
-
-
1Loss-
TRH-
-
-
-
1Loss-
TRHDE-
-
-
-
1Loss-
TRHR-
-
-
-
3Gain-
TRIAP1-
-
-
-
1Loss-
TRIB1-
-
-
-
3Gain-
TRIB3-
-
-
-
3Gain-
TRIM10p.S273L
Missense
SNP
0.454
3Gain-
TRIM15-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM24-
-
-
-
3Gain-
TRIM26-
-
-
-
3Gain-
TRIM27-
-
-
-
3Gain-
TRIM31-
-
-
-
3Gain-
TRIM35-
-
-
-
1Loss-
TRIM38-
-
-
-
3Gain-
TRIM39-
-
-
-
3Gain-
TRIM39-RPP21-
-
-
-
3Gain-
TRIM40-
-
-
-
3Gain-
TRIM42-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM59-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIOBP-
-
-
-
1Loss-
TRIP11-
-
-
-
1Loss-
TRIQK-
-
-
-
3Gain-
TRMT10C-
-
-
-
1Loss-
TRMT12-
-
-
-
3Gain-
TRMT2A-
-
-
-
1Loss-
TRMT5-
-
-
-
1Loss-
TRMT6-
-
-
-
3Gain-
TRMT61A-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TROAP-
-
-
-
1Loss-
TRPA1-
-
-
-
3Gain-
TRPC1-
-
-
-
1Loss-
TRPC4AP-
-
-
-
3Gain-
TRPC7-
-
-
-
1Loss-
TRPS1-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
1Loss-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TSC22D2-
-
-
-
1Loss-
TSFM-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSHR-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSNARE1-
-
-
-
3Gain-
TSPAN11-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN19-
-
-
-
1Loss-
TSPAN31-
-
-
-
1Loss-
TSPAN33-
-
-
-
3Gain-
TSPAN8-
-
-
-
1Loss-
TSPAN9-
-
-
-
1Loss-
TSPO-
-
-
-
1Loss-
TSPOAP1p.N386S
Missense
SNP
0.663
2--
TSPYL5-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSSK2-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TTC1-
-
-
-
1Loss-
TTC14-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC24p.A46T
Missense
SNP
0.728
2--
TTC26-
-
-
-
3Gain-
TTC28-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
1Loss-
TTK-
-
-
-
3Gain-
TTLL1-
-
-
-
1Loss-
TTLL12-
-
-
-
1Loss-
TTLL2-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTLL9-
-
-
-
3Gain-
TTNp.W30272*
p.S24383L
p.P18610L
p.E3796K
p.E3244K
Nonsense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.688
0.623
0.638
0.687
0.672
2--
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
3Gain-
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA8-
-
-
-
1Loss-
TUBB-
-
-
-
3Gain-
TUBB1-
-
-
-
3Gain-
TUBB2A-
-
-
-
3Gain-
TUBB2B-
-
-
-
3Gain-
TUBGCP6-
-
-
-
1Loss-
TULP3-
-
-
-
1Loss-
TULP4-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF1-
-
-
-
1Loss-
TXLNB-
-
-
-
1Loss-
TXN2-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC16-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC5-
-
-
-
3Gain-
TXNRD1-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TXNRD3-
-
-
-
1Loss-
TYMP-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
U2SURP-
-
-
-
1Loss-
UBA5-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBC-
-
-
-
1Loss-
UBD-
-
-
-
4Gain-
UBE2B-
-
-
-
1Loss-
UBE2C-
-
-
-
3Gain-
UBE2D2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2J1-
-
-
-
3Gain-
UBE2L3-
-
-
-
1Loss-
UBE2N-
-
-
-
1Loss-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBE3B-
-
-
-
1Loss-
UBE3C-
-
-
-
3Gain-
UBE3D-
-
-
-
3Gain-
UBLCP1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBOX5-
-
-
-
3Gain-
UBQLN3p.R631C
Missense
SNP
0.596
2--
UBR5-
-
-
-
3Gain-
UBR7-
-
-
-
1Loss-
UBXN2B-
-
-
-
3Gain-
UBXN7-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCKL1-
-
-
-
3Gain-
UFD1-
-
-
-
1Loss-
UHRF1BP1L-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK1-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
UMPS-
-
-
-
1Loss-
UNC119B-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC93A-
-
-
-
1Loss-
UNG-
-
-
-
1Loss-
UPB1-
-
-
-
1Loss-
UPK1B-
-
-
-
1Loss-
UPK3A-
-
-
-
1Loss-
UQCC1-
-
-
-
3Gain-
UQCR10-
-
-
-
1Loss-
UQCRB-
-
-
-
3Gain-
UQCRQ-
-
-
-
1Loss-
UROC1-
-
-
-
1Loss-
USF3-
-
-
-
1Loss-
USH2Ap.S633L
Missense
SNP
0.644
2--
USP13-
-
-
-
1Loss-
USP15-
-
-
-
1Loss-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP18-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP30-
-
-
-
1Loss-
USP37p.P296S
Missense
SNP
0.505
2--
USP38p.S11F
Missense
SNP
0.674
2--
USP41-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
1Loss-
USP5-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTP20-
-
-
-
1Loss-
UTP23-
-
-
-
3Gain-
UTRN-
-
-
-
1Loss-
UTS2B-
-
-
-
1Loss-
VAMP1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAPB-
-
-
-
3Gain-
VARS-
-
-
-
3Gain-
VARS2-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VCPIP1-
-
-
-
3Gain-
VCPKMT-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VDR-
-
-
-
1Loss-
VEPH1-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VIP-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VITp.S125F
Missense
SNP
0.608
2--
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13B-
-
-
-
3Gain-
VPS16-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS29-
-
-
-
1Loss-
VPS33A-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS37B-
-
-
-
1Loss-
VPS45-
-
-
-
0Del-
VPS53-
-
-
-
1Loss-
VPS8-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG10-
-
-
-
1Loss-
VSTM2L-
-
-
-
3Gain-
VSX1-
-
-
-
3Gain-
VSX2-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA5B2-
-
-
-
1Loss-
VWA7-
-
-
-
3Gain-
VWF-
-
-
-
1Loss-
VXN-
-
-
-
3Gain-
WARS-
-
-
-
1Loss-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
1Loss-
WASHC5-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP11-
-
-
-
1Loss-
WBP2NL-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR27-
-
-
-
1Loss-
WDR49-
-
-
-
1Loss-
WDR53-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR5B-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR66-
-
-
-
1Loss-
WDR72p.R956Q
Missense
SNP
0.602
2--
WDR81-
-
-
-
1Loss-
WDR86-
-
-
-
3Gain-
WDR89-
-
-
-
1Loss-
WDR91-
-
-
-
3Gain-
WDR97-
-
-
-
3Gain-
WDYHV1-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WIF1-
-
-
-
1Loss-
WISP1-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WNK1-
-
-
-
1Loss-
WNT1-
-
-
-
1Loss-
WNT10B-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT5B-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WNT8A-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WRNIP1-
-
-
-
3Gain-
WSB1-
-
-
-
1Loss-
WSB2-
-
-
-
1Loss-
WSCD2-
-
-
-
1Loss-
WTAP-
-
-
-
1Loss-
WWC1p.F918I
Missense
SNP
0.628
2--
WWP1-
-
-
-
3Gain-
WWTR1-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XDHp.E480K
Missense
SNP
0.531
2--
XKR3-
-
-
-
1Loss-
XKR4-
-
-
-
3Gain-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR7-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPNPEP3-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XPOT-
-
-
-
1Loss-
XRCC2-
-
-
-
3Gain-
XRCC3-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
XRN1-
-
-
-
1Loss-
XRN2-
-
-
-
3Gain-
XXYLT1-
-
-
-
1Loss-
YAF2-
-
-
-
1Loss-
YARS2-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YDJC-
-
-
-
1Loss-
YEATS2-
-
-
-
1Loss-
YEATS4-
-
-
-
1Loss-
YIPF5-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YPEL1-
-
-
-
1Loss-
YTHDF1-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAH-
-
-
-
1Loss-
YWHAZ-
-
-
-
3Gain-
YY1-
-
-
-
1Loss-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
Z98752.3-
-
-
-
3Gain-
ZANp.G2631E
Missense
SNP
0.616
2--
ZBBX-
-
-
-
1Loss-
ZBED2-
-
-
-
1Loss-
ZBED4-
-
-
-
1Loss-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
1Loss-
ZBED9-
-
-
-
3Gain-
ZBP1-
-
-
-
3Gain-
ZBTB1-
-
-
-
1Loss-
ZBTB10-
-
-
-
3Gain-
ZBTB11-
-
-
-
1Loss-
ZBTB12-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB20-
-
-
-
1Loss-
ZBTB25-
-
-
-
1Loss-
ZBTB38-
-
-
-
1Loss-
ZBTB39-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB46p.Q201*
Nonsense
SNP
0.538
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC2HC1B-
-
-
-
1Loss-
ZC2HC1C-
-
-
-
1Loss-
ZC3H10-
-
-
-
1Loss-
ZC3H12D-
-
-
-
1Loss-
ZC3H14-
-
-
-
1Loss-
ZC3H3-
-
-
-
3Gain-
ZC3H7B-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCCHC8-
-
-
-
1Loss-
ZCRB1-
-
-
-
1Loss-
ZDHHC14-
-
-
-
1Loss-
ZDHHC17-
-
-
-
1Loss-
ZDHHC19-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZDHHC23-
-
-
-
1Loss-
ZDHHC8-
-
-
-
1Loss-
ZFAND1-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFC3H1-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFHX4-
-
-
-
3Gain-
ZFP36L1-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFP57-
-
-
-
3Gain-
ZFP64-
-
-
-
3Gain-
ZFP91p.K249*
Nonsense
SNP
0.279
2--
ZFPM2-
-
-
-
3Gain-
ZFYVE1-
-
-
-
1Loss-
ZFYVE16p.H915Y
Missense
SNP
0.302
2--
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZHX3-
-
-
-
3Gain-
ZIC1-
-
-
-
1Loss-
ZIC4-
-
-
-
1Loss-
ZKSCAN3-
-
-
-
3Gain-
ZKSCAN4-
-
-
-
3Gain-
ZKSCAN8-
-
-
-
3Gain-
ZMAT2-
-
-
-
1Loss-
ZMAT3-
-
-
-
1Loss-
ZMAT4-
-
-
-
1Loss-
ZMAT5-
-
-
-
1Loss-
ZMYM6p.S808F
Missense
SNP
0.658
2--
ZMYND8-
-
-
-
3Gain-
ZNF10-
-
-
-
1Loss-
ZNF133-
-
-
-
3Gain-
ZNF140-
-
-
-
1Loss-
ZNF148-
-
-
-
1Loss-
ZNF16-
-
-
-
3Gain-
ZNF165-
-
-
-
3Gain-
ZNF18-
-
-
-
1Loss-
ZNF184-
-
-
-
3Gain-
ZNF212-
-
-
-
3Gain-
ZNF217-
-
-
-
3Gain-
ZNF219-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF26-
-
-
-
1Loss-
ZNF268-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF282-
-
-
-
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF292-
-
-
-
3Gain-
ZNF300-
-
-
-
1Loss-
ZNF311-
-
-
-
3Gain-
ZNF322-
-
-
-
3Gain-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF337-
-
-
-
3Gain-
ZNF34-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF343-
-
-
-
3Gain-
ZNF384-
-
-
-
1Loss-
ZNF385A-
-
-
-
1Loss-
ZNF391-
-
-
-
3Gain-
ZNF395-
-
-
-
1Loss-
ZNF398-
-
-
-
3Gain-
ZNF410-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF451-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF474-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF517-
-
-
-
3Gain-
ZNF572-
-
-
-
3Gain-
ZNF596-
-
-
-
1Loss-
ZNF605-
-
-
-
1Loss-
ZNF608-
-
-
-
1Loss-
ZNF623-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF639-
-
-
-
1Loss-
ZNF641-
-
-
-
1Loss-
ZNF664-
-
-
-
1Loss-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF70-
-
-
-
1Loss-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
3Gain-
ZNF705A-
-
-
-
1Loss-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF74-
-
-
-
1Loss-
ZNF740-
-
-
-
1Loss-
ZNF746-
-
-
-
3Gain-
ZNF76p.V88I
Missense
SNP
0.190
2--
ZNF775p.P148S
Missense
SNP
0.740
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF80-
-
-
-
1Loss-
ZNF800-
-
-
-
3Gain-
ZNF831-
-
-
-
3Gain-
ZNF835p.P509L
Missense
SNP
0.640
2--
ZNF839-
-
-
-
1Loss-
ZNF84-
-
-
-
1Loss-
ZNF862-
-
-
-
3Gain-
ZNF891-
-
-
-
1Loss-
ZNFX1-
-
-
-
3Gain-
ZNRD1-
-
-
-
3Gain-
ZNRF3-
-
-
-
1Loss-
ZPLD1-
-
-
-
1Loss-
ZSCAN12-
-
-
-
3Gain-
ZSCAN16-
-
-
-
3Gain-
ZSCAN23-
-
-
-
3Gain-
ZSCAN26-
-
-
-
3Gain-
ZSCAN31-
-
-
-
3Gain-
ZSCAN9-
-
-
-
3Gain-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZSWIM7-
-
-
-
1Loss-
ZXDC-
-
-
-
1Loss-
ZYX-
-
-
-
3Gain-
ZZEF1p.L1292F
Missense
SNP
1.000
1Loss-