PDMR-618468~307-R~PTQFW8-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
A3GALT2-
-
-
-
1Loss-
A4GALT-
-
-
-
1Loss-
A4GNT-
-
-
-
4Gain-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AADAC-
-
-
-
4Gain-
AADACL2-
-
-
-
4Gain-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AADAT-
-
-
-
1Loss-
AAMP-
-
-
-
1Loss-
AARS-
-
-
-
1Loss-
AASDH-
-
-
-
6Amp-
ABCA12-
-
-
-
1Loss-
ABCA13-
-
-
-
3Gain-
ABCA2-
-
-
-
3Gain-
ABCA3p.L621F
Missense
SNP
0.362
2--
ABCA4p.P1088S
Missense
SNP
1.000
1Loss-
ABCA7-
-
-
-
3Gain-
ABCA8p.Q591R
Missense
SNP
1.000
2--
ABCA9p.A1387T
Missense
SNP
1.000
2--
ABCB5-
-
-
-
3Gain-
ABCB6-
-
-
-
1Loss-
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
3Gain-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC5-
-
-
-
4Gain-
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABCD3-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCF2-
-
-
-
3Gain-
ABCF3-
-
-
-
4Gain-
ABCG2-
-
-
-
1Loss-
ABHD10-
-
-
-
4Gain-
ABHD12-
-
-
-
3Gain-
ABHD13-
-
-
-
3Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD17A-
-
-
-
3Gain-
ABHD17B-
-
-
-
5Amp-
ABHD18-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
4Gain-
ABI1-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABI3BP-
-
-
-
4Gain-
ABL1-
-
-
-
3Gain-
ABO-
-
-
-
3Gain-
ABRA-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
ABTB1-
-
-
-
4Gain-
AC002094.3-
-
-
-
6Amp-
AC002985.1-
-
-
-
5Amp-
AC002996.1-
-
-
-
3Gain-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004832.3-
-
-
-
3Gain-
AC004997.1-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005258.1-
-
-
-
3Gain-
AC005697.1-
-
-
-
6Amp-
AC005726.1-
-
-
-
6Amp-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC005943.1-
-
-
-
3Gain-
AC006059.2-
-
-
-
1Loss-
AC006064.6-
-
-
-
3Gain-
AC006254.1-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC006518.7-
-
-
-
3Gain-
AC006538.2-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC007192.1-
-
-
-
5Amp-
AC007731.5-
-
-
-
3Gain-
AC007998.2-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC008397.2-
-
-
-
5Amp-
AC008481.3-
-
-
-
3Gain-
AC008537.1-
-
-
-
3Gain-
AC008687.1-
-
-
-
1Loss-
AC008687.4-
-
-
-
1Loss-
AC008687.8-
-
-
-
1Loss-
AC008750.8-
-
-
-
1Loss-
AC008758.1-
-
-
-
3Gain-
AC008758.4-
-
-
-
3Gain-
AC008758.5-
-
-
-
3Gain-
AC008758.6-
-
-
-
3Gain-
AC008763.2-
-
-
-
3Gain-
AC008763.3-
-
-
-
3Gain-
AC008764.1-
-
-
-
4Gain-
AC008764.4-
-
-
-
4Gain-
AC008770.1-
-
-
-
3Gain-
AC008770.2-
-
-
-
3Gain-
AC008878.1-
-
-
-
3Gain-
AC008878.2-
-
-
-
3Gain-
AC008878.3-
-
-
-
3Gain-
AC008982.1-
-
-
-
3Gain-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009879.2-
-
-
-
1Loss-
AC009879.3-
-
-
-
1Loss-
AC010132.3-
-
-
-
3Gain-
AC010197.2-
-
-
-
3Gain-
AC010319.2-
-
-
-
4Gain-
AC010323.1-
-
-
-
3Gain-
AC010325.1-
-
-
-
1Loss-
AC010326.2-
-
-
-
1Loss-
AC010422.3-
-
-
-
3Gain-
AC010422.5-
-
-
-
3Gain-
AC010422.6-
-
-
-
3Gain-
AC010422.8-
-
-
-
3Gain-
AC010463.1-
-
-
-
4Gain-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC010646.1-
-
-
-
4Gain-
AC011330.3-
-
-
-
1Loss-
AC011448.1-
-
-
-
5Amp-
AC011452.1-
-
-
-
1Loss-
AC011455.2-
-
-
-
3Gain-
AC011462.1-
-
-
-
3Gain-
AC011473.4-
-
-
-
1Loss-
AC011479.1-
-
-
-
3Gain-
AC011498.4-
-
-
-
3Gain-
AC011499.1-
-
-
-
3Gain-
AC011511.1-
-
-
-
3Gain-
AC011511.4-
-
-
-
3Gain-
AC011604.2-
-
-
-
3Gain-
AC012184.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
1Loss-
AC012254.2-
-
-
-
3Gain-
AC012309.1-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC015688.4-
-
-
-
6Amp-
AC018512.1-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
4Gain-
AC020909.1-
-
-
-
1Loss-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC021660.3-
-
-
-
4Gain-
AC022335.1-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
1Loss-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC024592.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC025287.4-
-
-
-
1Loss-
AC026316.5-
-
-
-
11Amp-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026786.1-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC048338.1-
-
-
-
3Gain-
AC058822.1-
-
-
-
3Gain-
AC067968.1-
-
-
-
1Loss-
AC068547.1-
-
-
-
3Gain-
AC068631.2-
-
-
-
4Gain-
AC068775.1-
-
-
-
3Gain-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069257.3-
-
-
-
4Gain-
AC069444.2-
-
-
-
4Gain-
AC069503.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
3Gain-
AC079594.2-
-
-
-
8Amp-
AC083800.1-
-
-
-
4Gain-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091551.1-
-
-
-
3Gain-
AC092042.3-
-
-
-
1Loss-
AC092111.3-
-
-
-
3Gain-
AC092143.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093155.3-
-
-
-
1Loss-
AC093227.2-
-
-
-
3Gain-
AC093423.3-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097104.1-
-
-
-
3Gain-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098484.3-
-
-
-
1Loss-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
9Amp-
AC104532.1-
-
-
-
3Gain-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC112128.1-
-
-
-
4Gain-
AC112504.2-
-
-
-
4Gain-
AC114490.2-
-
-
-
1Loss-
AC114490.3-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC117457.1-
-
-
-
4Gain-
AC118549.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC119396.1-
-
-
-
3Gain-
AC119674.2-
-
-
-
1Loss-
AC126283.2-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC131160.1-
-
-
-
4Gain-
AC137834.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC253536.7-
-
-
-
3Gain-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
3Gain-
ACACB-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACAD11-
-
-
-
4Gain-
ACAD9-
-
-
-
4Gain-
ACADL-
-
-
-
1Loss-
ACADM-
-
-
-
1Loss-
ACADS-
-
-
-
3Gain-
ACAP2-
-
-
-
4Gain-
ACAP3-
-
-
-
1Loss-
ACBD5-
-
-
-
1Loss-
ACBD6p.X156_splice
Splice_Site
SNP
0.328
2--
ACD-
-
-
-
1Loss-
ACER1-
-
-
-
3Gain-
ACER2-
-
-
-
5Amp-
ACKR2-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACKR4-
-
-
-
4Gain-
ACO1-
-
-
-
5Amp-
ACO2-
-
-
-
1Loss-
ACOT11-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACOXLp.D164Y
Missense
SNP
0.483
2--
ACP4-
-
-
-
1Loss-
ACP5-
-
-
-
3Gain-
ACP7-
-
-
-
3Gain-
ACPP-
-
-
-
4Gain-
ACR-
-
-
-
1Loss-
ACRBP-
-
-
-
3Gain-
ACSBG2-
-
-
-
3Gain-
ACSF3-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL3-
-
-
-
1Loss-
ACSM4-
-
-
-
3Gain-
ACSS1-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTL6A-
-
-
-
4Gain-
ACTL8-
-
-
-
1Loss-
ACTL9-
-
-
-
3Gain-
ACTN2p.R767S
Missense
SNP
0.672
2--
ACTN4-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR5-
-
-
-
1Loss-
ACTR6-
-
-
-
3Gain-
ACTR8-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ACTRT3-
-
-
-
11Amp-
ACVR1-
-
-
-
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVR1C-
-
-
-
3Gain-
ACVR2A-
-
-
-
3Gain-
ACVR2B-
-
-
-
1Loss-
ACVRL1-
-
-
-
3Gain-
ACY1-
-
-
-
1Loss-
ADA-
-
-
-
1Loss-
ADA2-
-
-
-
3Gain-
ADAD1-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAM29-
-
-
-
1Loss-
ADAM30-
-
-
-
1Loss-
ADAM33-
-
-
-
3Gain-
ADAMTS10-
-
-
-
3Gain-
ADAMTS12-
-
-
-
3Gain-
ADAMTS13-
-
-
-
3Gain-
ADAMTS16-
-
-
-
3Gain-
ADAMTS17-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS20-
-
-
-
3Gain-
ADAMTS3-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
5Amp-
ADAMTSL2-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
3Gain-
ADAP1-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADAT3p.G251C
Missense
SNP
0.554
3Gain-
ADCK2-
-
-
-
7Amp-
ADCY1-
-
-
-
3Gain-
ADCY2-
-
-
-
3Gain-
ADCY5-
-
-
-
4Gain-
ADCY6-
-
-
-
3Gain-
ADCY7-
-
-
-
1Loss-
ADCYAP1-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADGRB2-
-
-
-
1Loss-
ADGRD1-
-
-
-
3Gain-
ADGRD2-
-
-
-
3Gain-
ADGRE1-
-
-
-
3Gain-
ADGRE2-
-
-
-
4Gain-
ADGRE3-
-
-
-
4Gain-
ADGRE5-
-
-
-
3Gain-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRG7-
-
-
-
4Gain-
ADGRL1-
-
-
-
3Gain-
ADGRL2-
-
-
-
1Loss-
ADGRL3-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADHFE1-
-
-
-
1Loss-
ADIG-
-
-
-
1Loss-
ADIPOQ-
-
-
-
4Gain-
ADIPOR2-
-
-
-
3Gain-
ADM2-
-
-
-
1Loss-
ADM5-
-
-
-
1Loss-
ADNP-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADORA2A-
-
-
-
3Gain-
ADORA3-
-
-
-
1Loss-
ADPRH-
-
-
-
4Gain-
ADPRHL1-
-
-
-
3Gain-
ADPRHL2-
-
-
-
1Loss-
ADRA1D-
-
-
-
3Gain-
ADSL-
-
-
-
1Loss-
AEBP1-
-
-
-
3Gain-
AEBP2-
-
-
-
3Gain-
AES-
-
-
-
3Gain-
AFF1-
-
-
-
1Loss-
AFG3L2-
-
-
-
3Gain-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGAP2-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL3-
-
-
-
9Amp-
AGBL4-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGK-
-
-
-
7Amp-
AGL-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGMO-
-
-
-
3Gain-
AGO1-
-
-
-
1Loss-
AGO3-
-
-
-
1Loss-
AGO4-
-
-
-
1Loss-
AGPAT2-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRN-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AGTPBP1-
-
-
-
1Loss-
AGTR1-
-
-
-
4Gain-
AGTRAP-
-
-
-
1Loss-
AGXT-
-
-
-
1Loss-
AGXT2-
-
-
-
3Gain-
AHCYL1-
-
-
-
1Loss-
AHDC1-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHRR-
-
-
-
3Gain-
AHSG-
-
-
-
4Gain-
AICDA-
-
-
-
3Gain-
AIF1L-
-
-
-
3Gain-
AIFM3-
-
-
-
3Gain-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AJAP1-
-
-
-
1Loss-
AJM1-
-
-
-
3Gain-
AK1-
-
-
-
3Gain-
AK2-
-
-
-
1Loss-
AK3-
-
-
-
5Amp-
AK4-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AK8-
-
-
-
3Gain-
AK9p.E710G
Missense
SNP
0.706
2--
AKAIN1-
-
-
-
3Gain-
AKAP3-
-
-
-
3Gain-
AKAP4p.Q463R
Missense
SNP
1.000
NDND-
AKAP8-
-
-
-
4Gain-
AKAP8L-
-
-
-
4Gain-
AKIRIN1-
-
-
-
1Loss-
AKNAD1-
-
-
-
1Loss-
AKR1A1-
-
-
-
1Loss-
AKR1B1-
-
-
-
9Amp-
AKR1B10-
-
-
-
9Amp-
AKR1B15-
-
-
-
9Amp-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4-
-
-
-
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1D1-
-
-
-
7Amp-
AKR1E2-
-
-
-
1Loss-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT1S1-
-
-
-
1Loss-
AKT2-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL020996.2-
-
-
-
1Loss-
AL021546.1-
-
-
-
3Gain-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL031847.2-
-
-
-
1Loss-
AL033529.1-
-
-
-
1Loss-
AL035460.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
1Loss-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL080251.1-
-
-
-
1Loss-
AL109811.4-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL121722.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3Gain-
AL121900.2-
-
-
-
3Gain-
AL133410.3-
-
-
-
5Amp-
AL136531.2-
-
-
-
3Gain-
AL138752.2-
-
-
-
5Amp-
AL157392.5-
-
-
-
1Loss-
AL157935.2-
-
-
-
3Gain-
AL162231.1-
-
-
-
5Amp-
AL162231.3-
-
-
-
5Amp-
AL162417.1-
-
-
-
3Gain-
AL355987.1-
-
-
-
3Gain-
AL355987.3-
-
-
-
3Gain-
AL357673.1-
-
-
-
1Loss-
AL358075.4-
-
-
-
1Loss-
AL358113.1-
-
-
-
5Amp-
AL359922.1-
-
-
-
5Amp-
AL445685.3-
-
-
-
1Loss-
AL449266.1-
-
-
-
1Loss-
AL451062.3-
-
-
-
1Loss-
AL513165.2-
-
-
-
5Amp-
AL603832.3-
-
-
-
1Loss-
AL672043.1-
-
-
-
1Loss-
AL672142.1-
-
-
-
3Gain-
AL807752.6-
-
-
-
3Gain-
AL807752.7-
-
-
-
3Gain-
AL929554.1-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALB-
-
-
-
1Loss-
ALCAM-
-
-
-
4Gain-
ALDH16A1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
1Loss-
ALDH1B1-
-
-
-
5Amp-
ALDH1L1-
-
-
-
4Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH4A1-
-
-
-
1Loss-
ALDOC-
-
-
-
6Amp-
ALG10-
-
-
-
3Gain-
ALG10B-
-
-
-
3Gain-
ALG12-
-
-
-
1Loss-
ALG14-
-
-
-
1Loss-
ALG1L-
-
-
-
4Gain-
ALG1L2-
-
-
-
4Gain-
ALG3-
-
-
-
4Gain-
ALG6-
-
-
-
1Loss-
ALKAL1-
-
-
-
1Loss-
ALKBH2-
-
-
-
3Gain-
ALKBH7-
-
-
-
3Gain-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
ALX1-
-
-
-
3Gain-
ALX3-
-
-
-
1Loss-
AMACR-
-
-
-
3Gain-
AMBNp.L44I
Missense
SNP
1.000
1Loss-
AMDHD1-
-
-
-
3Gain-
AMFR-
-
-
-
1Loss-
AMH-
-
-
-
3Gain-
AMHR2-
-
-
-
3Gain-
AMIGO1-
-
-
-
1Loss-
AMIGO2-
-
-
-
3Gain-
AMIGO3-
-
-
-
1Loss-
AMN1-
-
-
-
3Gain-
AMOTL2-
-
-
-
4Gain-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMT-
-
-
-
1Loss-
AMTN-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
AMZ1-
-
-
-
3Gain-
ANAPC10-
-
-
-
1Loss-
ANAPC13-
-
-
-
4Gain-
ANAPC2-
-
-
-
3Gain-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANGPT1-
-
-
-
1Loss-
ANGPT4-
-
-
-
3Gain-
ANGPTL2-
-
-
-
3Gain-
ANGPTL3-
-
-
-
1Loss-
ANGPTL4-
-
-
-
3Gain-
ANGPTL6-
-
-
-
3Gain-
ANGPTL7-
-
-
-
1Loss-
ANGPTL8-
-
-
-
3Gain-
ANHX-
-
-
-
3Gain-
ANK2-
-
-
-
1Loss-
ANKARp.W175*
Nonsense
SNP
0.401
2--
ANKEF1-
-
-
-
3Gain-
ANKH-
-
-
-
3Gain-
ANKLE1-
-
-
-
4Gain-
ANKLE2-
-
-
-
3Gain-
ANKMY1-
-
-
-
1Loss-
ANKMY2-
-
-
-
3Gain-
ANKRD10-
-
-
-
3Gain-
ANKRD11-
-
-
-
1Loss-
ANKRD12-
-
-
-
3Gain-
ANKRD13A-
-
-
-
3Gain-
ANKRD13C-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD17-
-
-
-
1Loss-
ANKRD18A-
-
-
-
5Amp-
ANKRD18B-
-
-
-
5Amp-
ANKRD20A2-
-
-
-
5Amp-
ANKRD24-
-
-
-
3Gain-
ANKRD26-
-
-
-
1Loss-
ANKRD27-
-
-
-
3Gain-
ANKRD28-
-
-
-
1Loss-
ANKRD29-
-
-
-
3Gain-
ANKRD30A-
-
-
-
1Loss-
ANKRD30B-
-
-
-
3Gain-
ANKRD33-
-
-
-
3Gain-
ANKRD33B-
-
-
-
3Gain-
ANKRD37-
-
-
-
1Loss-
ANKRD44-
-
-
-
3Gain-
ANKRD46-
-
-
-
1Loss-
ANKRD50-
-
-
-
1Loss-
ANKRD52-
-
-
-
3Gain-
ANKRD54-
-
-
-
5Amp-
ANKRD55p.Q435L
Missense
SNP
1.000
2--
ANKRD61-
-
-
-
3Gain-
ANKRD62-
-
-
-
3Gain-
ANKRD65-
-
-
-
1Loss-
ANKS1B-
-
-
-
3Gain-
ANKUB1-
-
-
-
4Gain-
ANKZF1-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO10-
-
-
-
1Loss-
ANO2-
-
-
-
3Gain-
ANO4p.N83K
Missense
SNP
0.483
3Gain-
ANO6-
-
-
-
3Gain-
ANO7-
-
-
-
1Loss-
ANO8-
-
-
-
4Gain-
ANP32D-
-
-
-
3Gain-
ANTXR2-
-
-
-
1Loss-
ANXA1-
-
-
-
1Loss-
ANXA10-
-
-
-
1Loss-
ANXA2-
-
-
-
1Loss-
ANXA2R-
-
-
-
3Gain-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AOX1-
-
-
-
1Loss-
AP000350.4-
-
-
-
3Gain-
AP1AR-
-
-
-
1Loss-
AP1B1-
-
-
-
3Gain-
AP1G1-
-
-
-
1Loss-
AP1M1-
-
-
-
4Gain-
AP1M2-
-
-
-
3Gain-
AP1S3-
-
-
-
1Loss-
AP2A1-
-
-
-
1Loss-
AP2M1-
-
-
-
4Gain-
AP3D1-
-
-
-
3Gain-
AP4B1-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP5S1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APAF1-
-
-
-
3Gain-
APBA1-
-
-
-
5Amp-
APBA3-
-
-
-
3Gain-
APBB1IP-
-
-
-
1Loss-
APC2-
-
-
-
3Gain-
APCDD1-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APH1B-
-
-
-
1Loss-
APMAP-
-
-
-
3Gain-
APOBEC1-
-
-
-
3Gain-
APOBEC3A-
-
-
-
5Amp-
APOBEC3B-
-
-
-
5Amp-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOD-
-
-
-
4Gain-
APOF-
-
-
-
3Gain-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APOLD1-
-
-
-
3Gain-
APPL1-
-
-
-
1Loss-
APPL2-
-
-
-
3Gain-
APRT-
-
-
-
1Loss-
APTX-
-
-
-
5Amp-
AQP1-
-
-
-
3Gain-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP2-
-
-
-
3Gain-
AQP3-
-
-
-
5Amp-
AQP4-
-
-
-
3Gain-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
AQP7-
-
-
-
5Amp-
AQP9-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARF3-
-
-
-
3Gain-
ARF4-
-
-
-
1Loss-
ARFGAP3-
-
-
-
1Loss-
ARFGEF1-
-
-
-
1Loss-
ARFGEF2-
-
-
-
1Loss-
ARFIP1-
-
-
-
1Loss-
ARGFX-
-
-
-
4Gain-
ARGLU1-
-
-
-
3Gain-
ARHGAP10-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP12-
-
-
-
1Loss-
ARHGAP21-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP28-
-
-
-
3Gain-
ARHGAP29-
-
-
-
1Loss-
ARHGAP31-
-
-
-
4Gain-
ARHGAP40-
-
-
-
1Loss-
ARHGAP45-
-
-
-
3Gain-
ARHGAP8-
-
-
-
1Loss-
ARHGAP9-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF12p.P1393L
Missense
SNP
0.521
2--
ARHGEF16-
-
-
-
1Loss-
ARHGEF18-
-
-
-
3Gain-
ARHGEF19-
-
-
-
1Loss-
ARHGEF25-
-
-
-
3Gain-
ARHGEF26-
-
-
-
9Amp-
ARHGEF3-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARHGEF39-
-
-
-
5Amp-
ARHGEF5-
-
-
-
5Amp-
ARHGEF6p.H161D
Missense
SNP
0.667
NDND-
ARHGEF7-
-
-
-
3Gain-
ARID1Ap.Y2076*
Nonsense
SNP
0.996
1Loss-
ARID2-
-
-
-
3Gain-
ARID3A-
-
-
-
3Gain-
ARID3C-
-
-
-
5Amp-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL1-
-
-
-
3Gain-
ARL13B-
-
-
-
4Gain-
ARL14-
-
-
-
8Amp-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL4C-
-
-
-
1Loss-
ARL5A-
-
-
-
3Gain-
ARL5B-
-
-
-
1Loss-
ARL6-
-
-
-
4Gain-
ARL6IP4-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL6IP6-
-
-
-
3Gain-
ARL8B-
-
-
-
0Del-
ARL9-
-
-
-
9Amp-
ARMC1-
-
-
-
1Loss-
ARMC3-
-
-
-
1Loss-
ARMC4-
-
-
-
1Loss-
ARMC6-
-
-
-
5Amp-
ARMC8-
-
-
-
4Gain-
ARMC9-
-
-
-
1Loss-
ARMH1-
-
-
-
1Loss-
ARNTL2-
-
-
-
3Gain-
ARPC2-
-
-
-
1Loss-
ARPC3-
-
-
-
3Gain-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5L-
-
-
-
3Gain-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRDC1-
-
-
-
3Gain-
ARRDC2-
-
-
-
4Gain-
ARRDC4-
-
-
-
1Loss-
ARRDC5-
-
-
-
3Gain-
ARSA-
-
-
-
1Loss-
ARSJ-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ART4-
-
-
-
3Gain-
ARTN-
-
-
-
1Loss-
ARVCF-
-
-
-
3Gain-
ASAP3-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB10-
-
-
-
3Gain-
ASB13-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASB6-
-
-
-
3Gain-
ASB7-
-
-
-
1Loss-
ASB8-
-
-
-
3Gain-
ASCC2-
-
-
-
3Gain-
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASF1B-
-
-
-
3Gain-
ASIC1-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASIC4-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASNA1-
-
-
-
3Gain-
ASPDH-
-
-
-
1Loss-
ASPH-
-
-
-
1Loss-
ASPHD2-
-
-
-
3Gain-
ASPNp.R263*
Nonsense
SNP
0.202
2--
ASS1-
-
-
-
3Gain-
ASTE1-
-
-
-
4Gain-
ASXL3-
-
-
-
3Gain-
ATAD3A-
-
-
-
1Loss-
ATAD3B-
-
-
-
1Loss-
ATAD3C-
-
-
-
1Loss-
ATAD5p.G1199C
Missense
DNP
1.000
2--
ATCAY-
-
-
-
3Gain-
ATF1-
-
-
-
3Gain-
ATF4-
-
-
-
1Loss-
ATF5-
-
-
-
1Loss-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG16L1-
-
-
-
1Loss-
ATG3-
-
-
-
4Gain-
ATG4B-
-
-
-
1Loss-
ATG4C-
-
-
-
1Loss-
ATG4D-
-
-
-
3Gain-
ATG7-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATG9B-
-
-
-
3Gain-
ATIC-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATN1-
-
-
-
3Gain-
ATOH1-
-
-
-
1Loss-
ATP11A-
-
-
-
3Gain-
ATP11B-
-
-
-
4Gain-
ATP12Ap.R787C
Missense
SNP
1.000
2--
ATP13A1-
-
-
-
4Gain-
ATP13A2-
-
-
-
1Loss-
ATP13A3-
-
-
-
4Gain-
ATP13A4-
-
-
-
4Gain-
ATP13A5-
-
-
-
4Gain-
ATP1A1-
-
-
-
1Loss-
ATP1A3-
-
-
-
1Loss-
ATP1B3-
-
-
-
4Gain-
ATP23-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP2B2-
-
-
-
1Loss-
ATP2C1-
-
-
-
4Gain-
ATP2C2-
-
-
-
1Loss-
ATP4B-
-
-
-
3Gain-
ATP5F1A-
-
-
-
3Gain-
ATP5F1B-
-
-
-
3Gain-
ATP5F1C-
-
-
-
1Loss-
ATP5F1D-
-
-
-
3Gain-
ATP5IF1-
-
-
-
1Loss-
ATP5MC2-
-
-
-
3Gain-
ATP5MGL-
-
-
-
1Loss-
ATP5PB-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0A4p.V305G
Missense
SNP
0.139
7Amp-
ATP6V0B-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
4Gain-
ATP6V1C1-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1H-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B3-
-
-
-
3Gain-
ATP8B4-
-
-
-
1Loss-
ATP9A-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATPAF1-
-
-
-
1Loss-
ATR-
-
-
-
4Gain-
ATRIP-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATXN10-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN2-
-
-
-
3Gain-
ATXN7-
-
-
-
1Loss-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
3Gain-
AUNIP-
-
-
-
1Loss-
AURKAIP1-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AVIL-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AVP-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AXL-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
1Loss-
AZIN2-
-
-
-
1Loss-
AZU1-
-
-
-
3Gain-
B2M-
-
-
-
1Loss-
B3GALNT1-
-
-
-
8Amp-
B3GALT6-
-
-
-
1Loss-
B3GNT3-
-
-
-
4Gain-
B3GNT4-
-
-
-
3Gain-
B3GNT5-
-
-
-
4Gain-
B3GNT7p.W62C
Missense
SNP
1.000
1Loss-
B3GNT8-
-
-
-
3Gain-
B3GNT9-
-
-
-
1Loss-
B4GALNT1-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
B4GALT1-
-
-
-
5Amp-
B4GALT2-
-
-
-
1Loss-
B4GALT4-
-
-
-
4Gain-
B4GALT5-
-
-
-
1Loss-
B4GALT6-
-
-
-
3Gain-
B9D2-
-
-
-
3Gain-
BAALC-
-
-
-
1Loss-
BABAM1-
-
-
-
4Gain-
BAG1-
-
-
-
5Amp-
BAIAP2L2-
-
-
-
5Amp-
BAMBI-
-
-
-
1Loss-
BANF2-
-
-
-
3Gain-
BANK1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BARHL1-
-
-
-
3Gain-
BARHL2-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BAX-
-
-
-
1Loss-
BAZ2A-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BBS12-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BBX-
-
-
-
4Gain-
BCAR1-
-
-
-
1Loss-
BCAR3-
-
-
-
1Loss-
BCAS2-
-
-
-
1Loss-
BCAS4-
-
-
-
1Loss-
BCAT1-
-
-
-
3Gain-
BCDIN3D-
-
-
-
3Gain-
BCHE-
-
-
-
8Amp-
BCKDHA-
-
-
-
3Gain-
BCL10-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL2L12-
-
-
-
1Loss-
BCL2L13-
-
-
-
3Gain-
BCL2L14-
-
-
-
3Gain-
BCL2L15-
-
-
-
1Loss-
BCL6-
-
-
-
4Gain-
BCL7A-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BCR-
-
-
-
3Gain-
BCS1L-
-
-
-
1Loss-
BDH1-
-
-
-
4Gain-
BDH2-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEND4p.N209K
Missense
SNP
0.339
2--
BEND5-
-
-
-
1Loss-
BEND7-
-
-
-
1Loss-
BEST2-
-
-
-
3Gain-
BEST3-
-
-
-
3Gain-
BEST4-
-
-
-
1Loss-
BFSP1-
-
-
-
3Gain-
BFSP2-
-
-
-
4Gain-
BHLHE22-
-
-
-
1Loss-
BHLHE40-
-
-
-
0Del-
BHLHE41-
-
-
-
3Gain-
BICD1-
-
-
-
3Gain-
BICDL1-
-
-
-
3Gain-
BID-
-
-
-
3Gain-
BIK-
-
-
-
1Loss-
BIN2-
-
-
-
3Gain-
BIRC8-
-
-
-
1Loss-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BLOC1S6-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BLVRB-
-
-
-
3Gain-
BMI1-
-
-
-
1Loss-
BMP2-
-
-
-
3Gain-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP8A-
-
-
-
1Loss-
BMP8B-
-
-
-
1Loss-
BMPER-
-
-
-
3Gain-
BMPR1B-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BNC2-
-
-
-
5Amp-
BNIP2-
-
-
-
1Loss-
BOC-
-
-
-
4Gain-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLL-
-
-
-
3Gain-
BORCS5-
-
-
-
3Gain-
BORCS8-
-
-
-
5Amp-
BORCS8-MEF2B-
-
-
-
5Amp-
BPGM-
-
-
-
9Amp-
BPI-
-
-
-
1Loss-
BPIFC-
-
-
-
3Gain-
BRAF-
-
-
-
7Amp-
BRAP-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD1-
-
-
-
1Loss-
BRD3-
-
-
-
3Gain-
BRD4-
-
-
-
4Gain-
BRD7-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BRDT-
-
-
-
1Loss-
BRI3BP-
-
-
-
3Gain-
BRINP1-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BSDC1-
-
-
-
1Loss-
BSG-
-
-
-
3Gain-
BSN-
-
-
-
1Loss-
BSND-
-
-
-
1Loss-
BST2-
-
-
-
4Gain-
BTBD11-
-
-
-
3Gain-
BTBD19-
-
-
-
1Loss-
BTBD2-
-
-
-
3Gain-
BTBD3-
-
-
-
3Gain-
BTBD8-
-
-
-
1Loss-
BTC-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTF3L4-
-
-
-
1Loss-
BTG1-
-
-
-
3Gain-
BTLA-
-
-
-
4Gain-
BTRC-
-
-
-
2-SH3PXD2A--BTRC
BZW1-
-
-
-
1Loss-
BZW2-
-
-
-
3Gain-
C10orf113-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf4-
-
-
-
3Gain-
C12orf40-
-
-
-
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C15orf48-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf82p.P72T
Missense
DNP
0.411
NDND-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63-
-
-
-
1Loss-
C19orf12-
-
-
-
3Gain-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
3Gain-
C19orf25-
-
-
-
3Gain-
C19orf33-
-
-
-
3Gain-
C19orf38-
-
-
-
3Gain-
C19orf44-
-
-
-
4Gain-
C19orf47-
-
-
-
3Gain-
C19orf48-
-
-
-
1Loss-
C19orf53-
-
-
-
3Gain-
C19orf54-
-
-
-
3Gain-
C19orf57-
-
-
-
3Gain-
C19orf66-
-
-
-
3Gain-
C19orf67-
-
-
-
3Gain-
C19orf70-
-
-
-
3Gain-
C19orf71-
-
-
-
3Gain-
C19orf73-
-
-
-
1Loss-
C19orf81-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf109-
-
-
-
1Loss-
C1orf122-
-
-
-
1Loss-
C1orf123-
-
-
-
1Loss-
C1orf127-
-
-
-
1Loss-
C1orf141-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
1Loss-
C1orf162-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf185-
-
-
-
1Loss-
C1orf194-
-
-
-
1Loss-
C1orf210-
-
-
-
1Loss-
C1orf216-
-
-
-
1Loss-
C1orf50-
-
-
-
1Loss-
C1orf52-
-
-
-
1Loss-
C1orf87-
-
-
-
1Loss-
C1orf94-
-
-
-
1Loss-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QL4-
-
-
-
3Gain-
C1QTNF12-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF6-
-
-
-
5Amp-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C20orf141-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf96-
-
-
-
3Gain-
C22orf15-
-
-
-
3Gain-
C22orf23-
-
-
-
5Amp-
C22orf31-
-
-
-
3Gain-
C22orf42-
-
-
-
3Gain-
C22orf46-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD4C-
-
-
-
3Gain-
C2CD5-
-
-
-
3Gain-
C2CD6-
-
-
-
1Loss-
C2orf66-
-
-
-
3Gain-
C2orf69-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C3-
-
-
-
3Gain-
C3AR1-
-
-
-
3Gain-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
4Gain-
C3orf30-
-
-
-
4Gain-
C3orf33-
-
-
-
9Amp-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf52-
-
-
-
4Gain-
C3orf56-
-
-
-
4Gain-
C3orf58-
-
-
-
4Gain-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
4Gain-
C3orf80-
-
-
-
8Amp-
C3orf84-
-
-
-
1Loss-
C3orf85-
-
-
-
4Gain-
C4orf17-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5-
-
-
-
3Gain-
C5orf22-
-
-
-
3Gain-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C6-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
5Amp-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
7Amp-
C7orf57-
-
-
-
3Gain-
C8A-
-
-
-
1Loss-
C8B-
-
-
-
1Loss-
C8G-
-
-
-
3Gain-
C8orf34-
-
-
-
1Loss-
C8orf37-
-
-
-
1Loss-
C8orf44-
-
-
-
1Loss-
C8orf59-
-
-
-
1Loss-
C8orf89-
-
-
-
1Loss-
C9-
-
-
-
3Gain-
C9orf116-
-
-
-
3Gain-
C9orf131-
-
-
-
5Amp-
C9orf135-
-
-
-
5Amp-
C9orf153-
-
-
-
1Loss-
C9orf16-
-
-
-
3Gain-
C9orf24-
-
-
-
5Amp-
C9orf40-
-
-
-
1Loss-
C9orf50-
-
-
-
3Gain-
C9orf57-
-
-
-
5Amp-
C9orf64-
-
-
-
1Loss-
C9orf66-
-
-
-
5Amp-
C9orf72-
-
-
-
5Amp-
C9orf78-
-
-
-
3Gain-
C9orf85-
-
-
-
5Amp-
C9orf92-
-
-
-
5Amp-
CA1-
-
-
-
1Loss-
CA13-
-
-
-
1Loss-
CA2-
-
-
-
1Loss-
CA3-
-
-
-
1Loss-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CA8-
-
-
-
1Loss-
CA9-
-
-
-
5Amp-
CAAP1-
-
-
-
5Amp-
CAB39-
-
-
-
1Loss-
CABIN1-
-
-
-
3Gain-
CABLES1-
-
-
-
3Gain-
CABP1-
-
-
-
3Gain-
CABP7-
-
-
-
3Gain-
CABS1-
-
-
-
1Loss-
CABYR-
-
-
-
3Gain-
CACFD1-
-
-
-
3Gain-
CACHD1-
-
-
-
1Loss-
CACNA1A-
-
-
-
3Gain-
CACNA1B-
-
-
-
3Gain-
CACNA1C-
-
-
-
3Gain-
CACNA1D-
-
-
-
1Loss-
CACNA1I-
-
-
-
1Loss-
CACNA2D1-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNA2D4-
-
-
-
3Gain-
CACNB2-
-
-
-
1Loss-
CACNB3-
-
-
-
3Gain-
CACNB4-
-
-
-
3Gain-
CACNG2-
-
-
-
3Gain-
CACTIN-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADM4-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CADPS2p.Y1229*
Nonsense
SNP
0.460
2--
CALB2-
-
-
-
1Loss-
CALCOCO1-
-
-
-
3Gain-
CALD1-
-
-
-
9Amp-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CALR-
-
-
-
3Gain-
CALR3-
-
-
-
4Gain-
CAMK1-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMK2D-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMK2N2-
-
-
-
4Gain-
CAMKK2-
-
-
-
3Gain-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP1p.D556Y
Missense
SNP
0.470
3Gain-
CAMSAP3-
-
-
-
3Gain-
CAMTA1-
-
-
-
1Loss-
CAND1-
-
-
-
3Gain-
CAND2-
-
-
-
1Loss-
CAP1-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPN12-
-
-
-
3Gain-
CAPN7-
-
-
-
1Loss-
CAPNS2-
-
-
-
1Loss-
CAPRIN2-
-
-
-
3Gain-
CAPS-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPSL-
-
-
-
3Gain-
CAPZA1-
-
-
-
1Loss-
CAPZA3-
-
-
-
3Gain-
CAPZB-
-
-
-
1Loss-
CARD10-
-
-
-
5Amp-
CARD11-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARD9-
-
-
-
3Gain-
CARF-
-
-
-
1Loss-
CARM1-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CARNMT1-
-
-
-
1Loss-
CARS2-
-
-
-
3Gain-
CASC1-
-
-
-
3Gain-
CASC10-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP14-
-
-
-
4Gain-
CASP2-
-
-
-
5Amp-
CASP3-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASQ2-
-
-
-
1Loss-
CASR-
-
-
-
4Gain-
CASTOR1-
-
-
-
3Gain-
CASZ1-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERD-
-
-
-
3Gain-
CATSPERG-
-
-
-
3Gain-
CAV3-
-
-
-
1Loss-
CBARP-
-
-
-
3Gain-
CBFA2T3p.G196V
Missense
SNP
0.533
1Loss-
CBFB-
-
-
-
1Loss-
CBLB-
-
-
-
4Gain-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBR4-
-
-
-
1Loss-
CBWD1-
-
-
-
5Amp-
CBX3-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CBX6-
-
-
-
5Amp-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
5Amp-
CC2D1A-
-
-
-
3Gain-
CC2D1B-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105-
-
-
-
4Gain-
CCDC107-
-
-
-
5Amp-
CCDC110-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC116-
-
-
-
3Gain-
CCDC117-
-
-
-
3Gain-
CCDC12-
-
-
-
1Loss-
CCDC124-
-
-
-
4Gain-
CCDC126-
-
-
-
3Gain-
CCDC127-
-
-
-
3Gain-
CCDC13-
-
-
-
1Loss-
CCDC130-
-
-
-
3Gain-
CCDC134-
-
-
-
1Loss-
CCDC14-
-
-
-
4Gain-
CCDC140-
-
-
-
1Loss-
CCDC148-
-
-
-
3Gain-
CCDC150-
-
-
-
3Gain-
CCDC151-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC155-
-
-
-
1Loss-
CCDC157-
-
-
-
3Gain-
CCDC158-
-
-
-
1Loss-
CCDC159-
-
-
-
3Gain-
CCDC163-
-
-
-
1Loss-
CCDC168p.F2740L
Missense
SNP
0.169
3Gain-
CCDC17-
-
-
-
1Loss-
CCDC171-
-
-
-
5Amp-
CCDC174-
-
-
-
1Loss-
CCDC178-
-
-
-
3Gain-
CCDC18-
-
-
-
1Loss-
CCDC183-
-
-
-
3Gain-
CCDC184-
-
-
-
3Gain-
CCDC188-
-
-
-
3Gain-
CCDC191-
-
-
-
4Gain-
CCDC194-
-
-
-
4Gain-
CCDC24-
-
-
-
1Loss-
CCDC27-
-
-
-
1Loss-
CCDC28B-
-
-
-
1Loss-
CCDC3-
-
-
-
1Loss-
CCDC30-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC38p.X495_splice
Splice_Site
SNP
0.525
3Gain-
CCDC39-
-
-
-
4Gain-
CCDC50-
-
-
-
4Gain-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
4Gain-
CCDC58-
-
-
-
4Gain-
CCDC59-
-
-
-
3Gain-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC7p.R382G
Missense
SNP
0.511
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC77-
-
-
-
3Gain-
CCDC80-
-
-
-
4Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCDC97-
-
-
-
3Gain-
CCER1-
-
-
-
3Gain-
CCER2-
-
-
-
3Gain-
CCIN-
-
-
-
5Amp-
CCK-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL19-
-
-
-
5Amp-
CCL20-
-
-
-
1Loss-
CCL21-
-
-
-
5Amp-
CCL22-
-
-
-
1Loss-
CCL25-
-
-
-
3Gain-
CCL27-
-
-
-
5Amp-
CCL28-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNA2-
-
-
-
1Loss-
CCNB2-
-
-
-
1Loss-
CCND2-
-
-
-
3Gain-
CCNDBP1p.K351R
Missense
SNP
0.282
2--
CCNE1-
-
-
-
3Gain-
CCNE2-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNL2-
-
-
-
1Loss-
CCNT1-
-
-
-
3Gain-
CCNY-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCPG1p.E84K
Missense
SNP
0.500
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCT2-
-
-
-
3Gain-
CCT5-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCT8L2-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
1Loss-
CD163-
-
-
-
3Gain-
CD163L1-
-
-
-
3Gain-
CD164L2-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD2-
-
-
-
1Loss-
CD200-
-
-
-
4Gain-
CD200R1-
-
-
-
4Gain-
CD200R1L-
-
-
-
4Gain-
CD209-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD27-
-
-
-
3Gain-
CD274-
-
-
-
5Amp-
CD28-
-
-
-
1Loss-
CD320-
-
-
-
3Gain-
CD33-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CD37-
-
-
-
1Loss-
CD4-
-
-
-
3Gain-
CD40-
-
-
-
1Loss-
CD47-
-
-
-
4Gain-
CD52-
-
-
-
1Loss-
CD53-
-
-
-
1Loss-
CD58-
-
-
-
1Loss-
CD63-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD70-
-
-
-
3Gain-
CD72-
-
-
-
5Amp-
CD80-
-
-
-
4Gain-
CD86-
-
-
-
4Gain-
CD9-
-
-
-
3Gain-
CD93-
-
-
-
3Gain-
CD96-
-
-
-
4Gain-
CDA-
-
-
-
1Loss-
CDC123-
-
-
-
1Loss-
CDC14A-
-
-
-
1Loss-
CDC14C-
-
-
-
3Gain-
CDC16-
-
-
-
3Gain-
CDC20-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC34-
-
-
-
3Gain-
CDC37-
-
-
-
3Gain-
CDC37L1-
-
-
-
5Amp-
CDC42-
-
-
-
1Loss-
CDC42EP1-
-
-
-
5Amp-
CDC7-
-
-
-
1Loss-
CDCA3-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDCA8-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDCP2-
-
-
-
1Loss-
CDH1-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH11-
-
-
-
1Loss-
CDH12-
-
-
-
3Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH17-
-
-
-
1Loss-
CDH18p.N654K
Missense
SNP
0.536
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDH9-
-
-
-
5Amp-
CDHR4-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK15-
-
-
-
1Loss-
CDK17-
-
-
-
3Gain-
CDK2-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK5R2-
-
-
-
1Loss-
CDK5RAP2-
-
-
-
3Gain-
CDK9-
-
-
-
3Gain-
CDKL2-
-
-
-
1Loss-
CDKN1B-
-
-
-
3Gain-
CDKN2A-
-
-
-
5Amp-
CDKN2AIP-
-
-
-
1Loss-
CDKN2B-
-
-
-
5Amp-
CDKN2C-
-
-
-
1Loss-
CDKN2D-
-
-
-
3Gain-
CDPF1-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDT1-
-
-
-
1Loss-
CDV3-
-
-
-
4Gain-
CDYL2-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPA-
-
-
-
3Gain-
CEBPB-
-
-
-
1Loss-
CEBPD-
-
-
-
1Loss-
CEBPG-
-
-
-
3Gain-
CECR2-
-
-
-
3Gain-
CEL-
-
-
-
3Gain-
CELA1-
-
-
-
3Gain-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CELF4-
-
-
-
3Gain-
CELF5-
-
-
-
3Gain-
CELSR1-
-
-
-
1Loss-
CELSR2-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP2-
-
-
-
5Amp-
CENPB-
-
-
-
3Gain-
CENPBD1-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPM-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP135-
-
-
-
6Amp-
CEP152-
-
-
-
1Loss-
CEP19-
-
-
-
4Gain-
CEP192-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP44-
-
-
-
1Loss-
CEP63-
-
-
-
4Gain-
CEP70-
-
-
-
4Gain-
CEP72-
-
-
-
3Gain-
CEP76-
-
-
-
3Gain-
CEP78-
-
-
-
1Loss-
CEP83-
-
-
-
3Gain-
CEP85-
-
-
-
1Loss-
CEP85Lp.D382N
Missense
SNP
0.271
2--
CEP89-
-
-
-
3Gain-
CEP97-
-
-
-
4Gain-
CEPT1-
-
-
-
1Loss-
CER1-
-
-
-
5Amp-
CERCAM-
-
-
-
3Gain-
CERK-
-
-
-
1Loss-
CERS1-
-
-
-
5Amp-
CERS3-
-
-
-
1Loss-
CERS4-
-
-
-
3Gain-
CERS5-
-
-
-
3Gain-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN1-
-
-
-
3Gain-
CETP-
-
-
-
1Loss-
CFAP100p.K470R
Missense
SNP
0.357
4Gain-
CFAP157-
-
-
-
3Gain-
CFAP20-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP44-
-
-
-
4Gain-
CFAP47p.D667E
Missense
SNP
0.964
NDND-
CFAP53-
-
-
-
3Gain-
CFAP54-
-
-
-
3Gain-
CFAP57-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP65-
-
-
-
1Loss-
CFAP73-
-
-
-
3Gain-
CFAP74p.E1172*
Nonsense
SNP
1.000
1Loss-
CFAP77-
-
-
-
3Gain-
CFAP97-
-
-
-
1Loss-
CFD-
-
-
-
3Gain-
CFDP1-
-
-
-
1Loss-
CFHp.G480A
Missense
SNP
0.653
2--
CFI-
-
-
-
1Loss-
CFLAR-
-
-
-
1Loss-
CGB1-
-
-
-
1Loss-
CGB2-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CGNL1-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHAMP1-
-
-
-
3Gain-
CHCHD10-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
11Amp-
CHCHD4-
-
-
-
1Loss-
CHCHD6-
-
-
-
4Gain-
CHCHD7-
-
-
-
1Loss-
CHD4-
-
-
-
3Gain-
CHD5-
-
-
-
1Loss-
CHD6-
-
-
-
1Loss-
CHD7-
-
-
-
1Loss-
CHD9-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHEK2-
-
-
-
3Gain-
CHERP-
-
-
-
4Gain-
CHFR-
-
-
-
3Gain-
CHGB-
-
-
-
3Gain-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHIC2-
-
-
-
3Gain-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP1A-
-
-
-
1Loss-
CHMP1B-
-
-
-
3Gain-
CHMP2B-
-
-
-
1Loss-
CHMP4C-
-
-
-
1Loss-
CHMP5-
-
-
-
5Amp-
CHN2-
-
-
-
3Gain-
CHPF-
-
-
-
1Loss-
CHPF2-
-
-
-
3Gain-
CHPT1-
-
-
-
3Gain-
CHRD-
-
-
-
4Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM2-
-
-
-
5Amp-
CHRM3p.L369I
Missense
SNP
0.306
2--
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST11-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CHST13-
-
-
-
4Gain-
CHST2-
-
-
-
4Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST9-
-
-
-
3Gain-
CHSY1-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIB3-
-
-
-
4Gain-
CICp.V632L
Missense
SNP
0.551
1Loss-
CIDEA-
-
-
-
3Gain-
CIDEC-
-
-
-
1Loss-
CILPp.V564L
Missense
SNP
0.692
2--
CILP2-
-
-
-
5Amp-
CIP2A-
-
-
-
4Gain-
CIRBP-
-
-
-
3Gain-
CISD2-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CIT-
-
-
-
3Gain-
CITED4-
-
-
-
1Loss-
CIZ1-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLC-
-
-
-
3Gain-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCC1p.D62H
Missense
SNP
1.000
1Loss-
CLCN1-
-
-
-
5Amp-
CLCN2-
-
-
-
4Gain-
CLCN3-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN1-
-
-
-
4Gain-
CLDN11-
-
-
-
11Amp-
CLDN16-
-
-
-
4Gain-
CLDN18-
-
-
-
4Gain-
CLDN19-
-
-
-
1Loss-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN5-
-
-
-
3Gain-
CLDND1-
-
-
-
4Gain-
CLDND2-
-
-
-
1Loss-
CLEC11A-
-
-
-
1Loss-
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC17A-
-
-
-
4Gain-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC2L-
-
-
-
7Amp-
CLEC3A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC4G-
-
-
-
3Gain-
CLEC4M-
-
-
-
3Gain-
CLEC5A-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLGN-
-
-
-
1Loss-
CLIC3-
-
-
-
3Gain-
CLIC4-
-
-
-
1Loss-
CLIP1-
-
-
-
3Gain-
CLK1-
-
-
-
1Loss-
CLLU1OS-
-
-
-
3Gain-
CLOCK-
-
-
-
3Gain-
CLPP-
-
-
-
3Gain-
CLPTM1L-
-
-
-
3Gain-
CLRN1-
-
-
-
4Gain-
CLSPN-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLSTN2-
-
-
-
4Gain-
CLSTN3-
-
-
-
3Gain-
CLTA-
-
-
-
5Amp-
CLUL1-
-
-
-
3Gain-
CLVS1-
-
-
-
1Loss-
CMAS-
-
-
-
3Gain-
CMBL-
-
-
-
3Gain-
CMC1-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMKLR1-
-
-
-
3Gain-
CMPK1-
-
-
-
1Loss-
CMSS1-
-
-
-
4Gain-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNBP-
-
-
-
4Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNFN-
-
-
-
1Loss-
CNGA1p.F354L
Missense
SNP
0.571
2--
CNGB1-
-
-
-
1Loss-
CNKSR1-
-
-
-
1Loss-
CNN1-
-
-
-
3Gain-
CNN2-
-
-
-
3Gain-
CNN3-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT2-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNOT6L-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
CNR2-
-
-
-
1Loss-
CNTD2-
-
-
-
3Gain-
CNTFR-
-
-
-
5Amp-
CNTLN-
-
-
-
5Amp-
CNTN1-
-
-
-
3Gain-
CNTN2p.P267L
Missense
SNP
0.623
2--
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
0Del-
CNTN6p.E31V
Missense
SNP
1.000
1Loss-
CNTNAP2-
-
-
-
5Amp-
CNTNAP3-
-
-
-
5Amp-
CNTNAP3B-
-
-
-
5Amp-
CNTNAP3C-
-
-
-
5Amp-
CNTNAP4-
-
-
-
1Loss-
CNTRL-
-
-
-
3Gain-
COA1-
-
-
-
3Gain-
COA7-
-
-
-
1Loss-
COBL-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL11A1-
-
-
-
1Loss-
COL16A1-
-
-
-
1Loss-
COL24A1-
-
-
-
1Loss-
COL25A1-
-
-
-
1Loss-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
3Gain-
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A1-
-
-
-
3Gain-
COL5A3-
-
-
-
3Gain-
COL6A3-
-
-
-
1Loss-
COL6A5-
-
-
-
4Gain-
COL6A6-
-
-
-
4Gain-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
4Gain-
COL8A2-
-
-
-
1Loss-
COL9A2-
-
-
-
1Loss-
COLEC12-
-
-
-
3Gain-
COLGALT1-
-
-
-
4Gain-
COLQ-
-
-
-
1Loss-
COMMD2-
-
-
-
4Gain-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMP-
-
-
-
5Amp-
COMT-
-
-
-
3Gain-
COPB2-
-
-
-
4Gain-
COPE-
-
-
-
5Amp-
COPG1-
-
-
-
4Gain-
COPS2-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS5-
-
-
-
1Loss-
COPS7A-
-
-
-
3Gain-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ10B-
-
-
-
3Gain-
COQ2-
-
-
-
1Loss-
COQ4-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
COQ8B-
-
-
-
3Gain-
COQ9-
-
-
-
1Loss-
CORO1C-
-
-
-
3Gain-
CORT-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX14-
-
-
-
3Gain-
COX17-
-
-
-
4Gain-
COX18-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX6A1-
-
-
-
3Gain-
COX6C-
-
-
-
1Loss-
CP-
-
-
-
4Gain-
CPA3-
-
-
-
4Gain-
CPA6-
-
-
-
1Loss-
CPAMD8-
-
-
-
4Gain-
CPB1-
-
-
-
4Gain-
CPE-
-
-
-
1Loss-
CPLANE1-
-
-
-
3Gain-
CPLANE2-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
3Gain-
CPN2-
-
-
-
4Gain-
CPNE2-
-
-
-
1Loss-
CPNE4-
-
-
-
4Gain-
CPNE7-
-
-
-
1Loss-
CPNE8-
-
-
-
3Gain-
CPNE9-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPOX-
-
-
-
4Gain-
CPQ-
-
-
-
1Loss-
CPS1-
-
-
-
1Loss-
CPSF6-
-
-
-
3Gain-
CPT1B-
-
-
-
1Loss-
CPT1C-
-
-
-
1Loss-
CPT2-
-
-
-
1Loss-
CPTP-
-
-
-
1Loss-
CPVL-
-
-
-
3Gain-
CPXM1-
-
-
-
3Gain-
CR1p.V115A
Missense
DNP
0.132
2--
CR1L-
-
-
-
1Loss-
CRACR2A-
-
-
-
3Gain-
CRADD-
-
-
-
3Gain-
CRAT-
-
-
-
3Gain-
CRB2-
-
-
-
3Gain-
CRB3-
-
-
-
3Gain-
CRBN-
-
-
-
0Del-
CREB1-
-
-
-
1Loss-
CREB3-
-
-
-
5Amp-
CREB3L2-
-
-
-
7Amp-
CREB3L3-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBL2-
-
-
-
3Gain-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CREM-
-
-
-
1Loss-
CRH-
-
-
-
1Loss-
CRHR2-
-
-
-
3Gain-
CRISPLD1-
-
-
-
1Loss-
CRISPLD2p.Y338*
Nonsense
SNP
0.436
1Loss-
CRKL-
-
-
-
3Gain-
CRLF1-
-
-
-
5Amp-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CROCC-
-
-
-
1Loss-
CROCC2-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC1-
-
-
-
5Amp-
CRY1-
-
-
-
3Gain-
CRYBA2-
-
-
-
1Loss-
CRYBA4-
-
-
-
3Gain-
CRYBB1p.G23W
Missense
SNP
0.515
3Gain-
CRYBB2-
-
-
-
3Gain-
CRYBB3-
-
-
-
3Gain-
CRYBG2-
-
-
-
1Loss-
CRYBG3-
-
-
-
4Gain-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGN-
-
-
-
3Gain-
CRYGS-
-
-
-
4Gain-
CRYZ-
-
-
-
1Loss-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSDC2-
-
-
-
1Loss-
CSDE1-
-
-
-
1Loss-
CSE1L-
-
-
-
1Loss-
CSF1-
-
-
-
1Loss-
CSF2RB-
-
-
-
5Amp-
CSF3R-
-
-
-
1Loss-
CSMD1p.D1042N
Missense
SNP
0.348
2--
CSMD2-
-
-
-
1Loss-
CSMD3p.G3325R
Missense
SNP
0.426
2--
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1E-
-
-
-
5Amp-
CSNK1G2-
-
-
-
3Gain-
CSNK2A1-
-
-
-
3Gain-
CSNK2A2-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
1Loss-
CSRNP1-
-
-
-
1Loss-
CSRNP2-
-
-
-
3Gain-
CSRP2-
-
-
-
3Gain-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTA-
-
-
-
4Gain-
CSTL1-
-
-
-
3Gain-
CTAGE1-
-
-
-
3Gain-
CTAGE4-
-
-
-
5Amp-
CTAGE8-
-
-
-
5Amp-
CTBS-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
3Gain-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTH-
-
-
-
1Loss-
CTHRC1-
-
-
-
1Loss-
CTIF-
-
-
-
3Gain-
CTLA4-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTNND2-
-
-
-
3Gain-
CTPS1-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSA-
-
-
-
1Loss-
CTSL-
-
-
-
1Loss-
CTSO-
-
-
-
1Loss-
CTTNBP2NL-
-
-
-
1Loss-
CTU1-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN1-
-
-
-
3Gain-
CTXN2-
-
-
-
1Loss-
CUL1-
-
-
-
5Amp-
CUL2-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUL4A-
-
-
-
3Gain-
CUX2-
-
-
-
3Gain-
CX3CL1-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
3Gain-
CXXC4-
-
-
-
1Loss-
CYB561D1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYB5RL-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYCS-
-
-
-
3Gain-
CYLD-
-
-
-
1Loss-
CYP19A1-
-
-
-
1Loss-
CYP20A1-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP27B1-
-
-
-
3Gain-
CYP2A13-
-
-
-
3Gain-
CYP2A6-
-
-
-
3Gain-
CYP2A7-
-
-
-
3Gain-
CYP2B6-
-
-
-
3Gain-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2F1-
-
-
-
3Gain-
CYP2J2-
-
-
-
1Loss-
CYP2S1-
-
-
-
3Gain-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP4A11-
-
-
-
1Loss-
CYP4A22-
-
-
-
1Loss-
CYP4B1-
-
-
-
1Loss-
CYP4F11-
-
-
-
4Gain-
CYP4F12-
-
-
-
4Gain-
CYP4F2-
-
-
-
4Gain-
CYP4F22-
-
-
-
4Gain-
CYP4F3-
-
-
-
4Gain-
CYP4F8-
-
-
-
4Gain-
CYP4V2-
-
-
-
1Loss-
CYP4X1-
-
-
-
1Loss-
CYP4Z1-
-
-
-
1Loss-
CYP7A1-
-
-
-
1Loss-
CYP7B1-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
CYR61-
-
-
-
1Loss-
CYREN-
-
-
-
9Amp-
CYSRT1-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
5Amp-
CYTIP-
-
-
-
3Gain-
D2HGDH-
-
-
-
1Loss-
DAB1-
-
-
-
1Loss-
DAB2-
-
-
-
3Gain-
DAB2IP-
-
-
-
3Gain-
DACT1p.S760T
Missense
SNP
0.330
2--
DAG1-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
1Loss-
DAND5-
-
-
-
3Gain-
DAO-
-
-
-
3Gain-
DAOA-
-
-
-
3Gain-
DAP-
-
-
-
3Gain-
DAPK1-
-
-
-
1Loss-
DAPK3-
-
-
-
3Gain-
DAPL1-
-
-
-
3Gain-
DAPP1-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DAZAP1-
-
-
-
3Gain-
DAZAP2-
-
-
-
3Gain-
DAZL-
-
-
-
1Loss-
DBH-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNDD2-
-
-
-
1Loss-
DBNL-
-
-
-
3Gain-
DBR1-
-
-
-
4Gain-
DBT-
-
-
-
1Loss-
DBX2-
-
-
-
3Gain-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
5Amp-
DCAF12-
-
-
-
5Amp-
DCAF13-
-
-
-
1Loss-
DCAF15-
-
-
-
3Gain-
DCBLD2-
-
-
-
4Gain-
DCC-
-
-
-
3Gain-
DCD-
-
-
-
3Gain-
DCDC2B-
-
-
-
1Loss-
DCHS2-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCLRE1B-
-
-
-
1Loss-
DCN-
-
-
-
3Gain-
DCP1A-
-
-
-
1Loss-
DCP1B-
-
-
-
3Gain-
DCSTAMP-
-
-
-
1Loss-
DCTD-
-
-
-
1Loss-
DCTN2-
-
-
-
3Gain-
DCTN3-
-
-
-
5Amp-
DCUN1D1-
-
-
-
4Gain-
DCUN1D2-
-
-
-
3Gain-
DCUN1D4-
-
-
-
3Gain-
DDA1-
-
-
-
4Gain-
DDAH1-
-
-
-
1Loss-
DDC-
-
-
-
3Gain-
DDI2-
-
-
-
1Loss-
DDIT3-
-
-
-
3Gain-
DDIT4L-
-
-
-
1Loss-
DDN-
-
-
-
3Gain-
DDOST-
-
-
-
1Loss-
DDRGK1-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX11-
-
-
-
3Gain-
DDX17-
-
-
-
5Amp-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX20-
-
-
-
1Loss-
DDX23-
-
-
-
3Gain-
DDX27-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX31-
-
-
-
3Gain-
DDX39A-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX49-
-
-
-
5Amp-
DDX51-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX58-
-
-
-
5Amp-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DEDD2-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DENND1A-
-
-
-
3Gain-
DENND1C-
-
-
-
3Gain-
DENND2A-
-
-
-
7Amp-
DENND2C-
-
-
-
1Loss-
DENND2D-
-
-
-
1Loss-
DENND4C-
-
-
-
5Amp-
DENND5B-
-
-
-
3Gain-
DENND6A-
-
-
-
1Loss-
DENND6B-
-
-
-
1Loss-
DENR-
-
-
-
3Gain-
DEPDC1-
-
-
-
1Loss-
DEPDC4-
-
-
-
3Gain-
DEPDC5-
-
-
-
3Gain-
DERA-
-
-
-
3Gain-
DERL3-
-
-
-
3Gain-
DES-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKD-
-
-
-
1Loss-
DGKG-
-
-
-
4Gain-
DGKI-
-
-
-
5Amp-
DHCR24-
-
-
-
1Loss-
DHDDS-
-
-
-
1Loss-
DHDH-
-
-
-
1Loss-
DHFR2-
-
-
-
4Gain-
DHH-
-
-
-
3Gain-
DHODH-
-
-
-
1Loss-
DHPS-
-
-
-
3Gain-
DHRS3-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX35-
-
-
-
1Loss-
DHX36-
-
-
-
9Amp-
DHX37-
-
-
-
3Gain-
DHX38-
-
-
-
1Loss-
DIABLO-
-
-
-
3Gain-
DICER1p.G1809V
Missense
SNP
0.592
2--
DIO1-
-
-
-
1Loss-
DIP2B-
-
-
-
3Gain-
DIP2C-
-
-
-
1Loss-
DIRAS1-
-
-
-
3Gain-
DIRAS3-
-
-
-
1Loss-
DIRC2-
-
-
-
4Gain-
DIS3L2-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DKKL1-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLG1-
-
-
-
4Gain-
DLGAP1-
-
-
-
3Gain-
DLGAP3-
-
-
-
1Loss-
DLL3-
-
-
-
3Gain-
DMAC1-
-
-
-
5Amp-
DMAC2-
-
-
-
3Gain-
DMAP1-
-
-
-
1Loss-
DMBX1-
-
-
-
1Loss-
DMC1-
-
-
-
5Amp-
DMP1-
-
-
-
1Loss-
DMRT1-
-
-
-
5Amp-
DMRT2-
-
-
-
5Amp-
DMRT3-
-
-
-
5Amp-
DMRTA1-
-
-
-
5Amp-
DMRTA2-
-
-
-
1Loss-
DMRTB1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
1Loss-
DNAH10-
-
-
-
3Gain-
DNAH11p.P4333T
Missense
SNP
0.438
3Gain-
DNAH12-
-
-
-
1Loss-
DNAH5-
-
-
-
3Gain-
DNAH7-
-
-
-
3Gain-
DNAI1-
-
-
-
5Amp-
DNAJA1-
-
-
-
5Amp-
DNAJA2-
-
-
-
1Loss-
DNAJB1-
-
-
-
3Gain-
DNAJB11-
-
-
-
4Gain-
DNAJB14-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB5-
-
-
-
5Amp-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
1Loss-
DNAJB8-
-
-
-
4Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC11-
-
-
-
1Loss-
DNAJC13-
-
-
-
4Gain-
DNAJC14-
-
-
-
3Gain-
DNAJC16-
-
-
-
1Loss-
DNAJC19-
-
-
-
4Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC22-
-
-
-
3Gain-
DNAJC5B-
-
-
-
1Loss-
DNAJC6-
-
-
-
1Loss-
DNAJC8-
-
-
-
1Loss-
DNAL4-
-
-
-
5Amp-
DNALI1-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNASE2-
-
-
-
3Gain-
DNASE2B-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNLZ-
-
-
-
3Gain-
DNM1-
-
-
-
3Gain-
DNM1L-
-
-
-
3Gain-
DNM2-
-
-
-
3Gain-
DNMT1-
-
-
-
3Gain-
DNPEP-
-
-
-
1Loss-
DNTTIP1-
-
-
-
1Loss-
DNTTIP2-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK6-
-
-
-
3Gain-
DOCK7-
-
-
-
1Loss-
DOCK8-
-
-
-
5Amp-
DOHH-
-
-
-
3Gain-
DOK4-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOLK-
-
-
-
3Gain-
DOLPP1-
-
-
-
3Gain-
DOT1L-
-
-
-
3Gain-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF1-
-
-
-
3Gain-
DPH2-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH5-
-
-
-
1Loss-
DPH7-
-
-
-
3Gain-
DPM1-
-
-
-
1Loss-
DPM2-
-
-
-
3Gain-
DPP6p.T338A
Missense
SNP
0.209
3Gain-
DPP7-
-
-
-
3Gain-
DPP9-
-
-
-
3Gain-
DPPA2-
-
-
-
4Gain-
DPPA3-
-
-
-
3Gain-
DPPA4-
-
-
-
4Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DPY19L3-
-
-
-
3Gain-
DPY19L4-
-
-
-
1Loss-
DPYD-
-
-
-
1Loss-
DPYS-
-
-
-
1Loss-
DR1-
-
-
-
1Loss-
DRAM1-
-
-
-
3Gain-
DRAM2-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRC1p.R494M
Missense
SNP
0.441
2--
DRC7-
-
-
-
1Loss-
DRD3-
-
-
-
4Gain-
DRG1-
-
-
-
3Gain-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
3Gain-
DSC1-
-
-
-
3Gain-
DSC2p.L87F
Missense
SNP
0.370
3Gain-
DSC3-
-
-
-
3Gain-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DSPP-
-
-
-
1Loss-
DSTN-
-
-
-
3Gain-
DTD1-
-
-
-
3Gain-
DTHD1p.Q49H
Missense
SNP
0.305
2--
DTNA-
-
-
-
3Gain-
DTWD1-
-
-
-
1Loss-
DTX1-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DTX3L-
-
-
-
4Gain-
DTYMK-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUS3L-
-
-
-
3Gain-
DUSP16-
-
-
-
3Gain-
DUSP18-
-
-
-
3Gain-
DUSP28-
-
-
-
1Loss-
DUSP6-
-
-
-
3Gain-
DUSP7-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
DVL3-
-
-
-
4Gain-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNLL1-
-
-
-
3Gain-
DYNLRB2-
-
-
-
1Loss-
DYRK1B-
-
-
-
3Gain-
DYRK2-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
DYTN-
-
-
-
1Loss-
DZANK1-
-
-
-
3Gain-
DZIP1L-
-
-
-
4Gain-
DZIP3-
-
-
-
4Gain-
E2F2-
-
-
-
1Loss-
E2F4-
-
-
-
1Loss-
E2F5-
-
-
-
1Loss-
E2F7-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
4Gain-
EBAG9-
-
-
-
1Loss-
EBF4-
-
-
-
3Gain-
EBI3-
-
-
-
3Gain-
EBLN1-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBNA1BP2-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECE2-
-
-
-
4Gain-
ECEL1-
-
-
-
1Loss-
ECH1-
-
-
-
3Gain-
ECHDC2-
-
-
-
1Loss-
ECHDC3-
-
-
-
1Loss-
ECSIT-
-
-
-
3Gain-
ECT2-
-
-
-
8Amp-
EDC4-
-
-
-
1Loss-
EDEM1-
-
-
-
0Del-
EDF1-
-
-
-
3Gain-
EDN2-
-
-
-
1Loss-
EDNRA-
-
-
-
1Loss-
EEA1-
-
-
-
3Gain-
EEF1AKMT3-
-
-
-
3Gain-
EEF1AKMT4-
-
-
-
4Gain-
EEF1AKMT4-ECE2-
-
-
-
4Gain-
EEF1B2-
-
-
-
1Loss-
EEF2-
-
-
-
3Gain-
EEFSEC-
-
-
-
4Gain-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
1Loss-
EFCAB12-
-
-
-
4Gain-
EFCAB14-
-
-
-
1Loss-
EFCAB6-
-
-
-
1Loss-
EFCAB7-
-
-
-
1Loss-
EFCC1-
-
-
-
4Gain-
EFHB-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFHD2-
-
-
-
1Loss-
EFNA2-
-
-
-
3Gain-
EFNB2-
-
-
-
3Gain-
EGF-
-
-
-
1Loss-
EGFL7-
-
-
-
3Gain-
EGFLAM-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGLN2-
-
-
-
3Gain-
EHHADH-
-
-
-
4Gain-
EHMT1-
-
-
-
3Gain-
EID1-
-
-
-
1Loss-
EID2-
-
-
-
3Gain-
EID2B-
-
-
-
3Gain-
EID3-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
4Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2B1-
-
-
-
3Gain-
EIF2B3-
-
-
-
1Loss-
EIF2B5-
-
-
-
4Gain-
EIF2S3B-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3D-
-
-
-
3Gain-
EIF3E-
-
-
-
1Loss-
EIF3G-
-
-
-
3Gain-
EIF3I-
-
-
-
1Loss-
EIF3J-
-
-
-
1Loss-
EIF3K-
-
-
-
3Gain-
EIF3L-
-
-
-
5Amp-
EIF4A2-
-
-
-
4Gain-
EIF4B-
-
-
-
3Gain-
EIF4E-
-
-
-
1Loss-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
3Gain-
EIF4G1p.S291C
Missense
SNP
0.339
4Gain-
EIF4G3-
-
-
-
1Loss-
EIF5A2-
-
-
-
11Amp-
ELAC1-
-
-
-
3Gain-
ELANE-
-
-
-
3Gain-
ELAVL1-
-
-
-
3Gain-
ELAVL2-
-
-
-
5Amp-
ELAVL3-
-
-
-
3Gain-
ELAVL4-
-
-
-
1Loss-
ELF2-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
5Amp-
ELK3-
-
-
-
3Gain-
ELL-
-
-
-
5Amp-
ELL3-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO2-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELMOD2-
-
-
-
1Loss-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
3Gain-
ELOC-
-
-
-
1Loss-
ELOF1-
-
-
-
3Gain-
ELOVL1-
-
-
-
1Loss-
ELOVL6-
-
-
-
1Loss-
ELP2-
-
-
-
3Gain-
ELP6-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC10-
-
-
-
1Loss-
EMC2p.K90N
Missense
SNP
0.364
1Loss-
EMC3-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMG1-
-
-
-
3Gain-
EMID1-
-
-
-
3Gain-
EMILIN2-
-
-
-
3Gain-
EMILIN3-
-
-
-
1Loss-
EMP1-
-
-
-
3Gain-
EMX2p.Q203H
Missense
SNP
0.394
2--
EN2-
-
-
-
3Gain-
ENAM-
-
-
-
1Loss-
ENDOG-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENG-
-
-
-
3Gain-
ENHO-
-
-
-
5Amp-
ENKD1-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENO1-
-
-
-
1Loss-
ENO2-
-
-
-
3Gain-
ENOPH1-
-
-
-
1Loss-
ENOSF1-
-
-
-
3Gain-
ENPEP-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENTHD1-
-
-
-
1Loss-
ENTPD2-
-
-
-
3Gain-
ENTPD3-
-
-
-
1Loss-
ENTPD6-
-
-
-
3Gain-
ENTPD8-
-
-
-
3Gain-
ENTR1-
-
-
-
3Gain-
ENY2-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EP400-
-
-
-
3Gain-
EPB41-
-
-
-
1Loss-
EPB41L3-
-
-
-
3Gain-
EPC1-
-
-
-
1Loss-
EPC2-
-
-
-
3Gain-
EPDR1-
-
-
-
3Gain-
EPG5-
-
-
-
3Gain-
EPGN-
-
-
-
1Loss-
EPHA1-
-
-
-
5Amp-
EPHA10-
-
-
-
1Loss-
EPHA2-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA5-
-
-
-
1Loss-
EPHA6-
-
-
-
4Gain-
EPHA8-
-
-
-
1Loss-
EPHB1-
-
-
-
4Gain-
EPHB2-
-
-
-
1Loss-
EPHB3-
-
-
-
4Gain-
EPHB6-
-
-
-
3Gain-
EPHX3-
-
-
-
4Gain-
EPHX4-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPOR-
-
-
-
3Gain-
EPPIN-
-
-
-
1Loss-
EPPIN-WFDC6-
-
-
-
1Loss-
EPS15-
-
-
-
1Loss-
EPS15L1-
-
-
-
4Gain-
EPS8-
-
-
-
3Gain-
EPS8L3-
-
-
-
1Loss-
EPYC-
-
-
-
3Gain-
EQTN-
-
-
-
5Amp-
ERBB3-
-
-
-
3Gain-
ERBB4-
-
-
-
1Loss-
ERC1-
-
-
-
3Gain-
ERC2-
-
-
-
1Loss-
ERCC5-
-
-
-
3Gain-
EREG-
-
-
-
1Loss-
ERF-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERGIC2-
-
-
-
3Gain-
ERI2p.K500*
Nonsense
SNP
0.618
2--
ERI3-
-
-
-
1Loss-
ERICH3-
-
-
-
1Loss-
ERICH5-
-
-
-
1Loss-
ERICH6-
-
-
-
4Gain-
ERMAP-
-
-
-
1Loss-
ERMN-
-
-
-
3Gain-
ERMP1-
-
-
-
5Amp-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ERRFI1-
-
-
-
1Loss-
ERVMER34-1-
-
-
-
3Gain-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESCO1-
-
-
-
3Gain-
ESF1-
-
-
-
3Gain-
ESPL1-
-
-
-
3Gain-
ESPN-
-
-
-
1Loss-
ESPNL-
-
-
-
1Loss-
ESRP1-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESRRGp.D266N
Missense
SNP
0.398
2--
ESYT1-
-
-
-
3Gain-
ESYT3-
-
-
-
4Gain-
ETFB-
-
-
-
1Loss-
ETFBKMT-
-
-
-
3Gain-
ETFDH-
-
-
-
1Loss-
ETFRF1-
-
-
-
3Gain-
ETHE1-
-
-
-
1Loss-
ETNK1-
-
-
-
3Gain-
ETNPPL-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV5-
-
-
-
4Gain-
ETV6-
-
-
-
3Gain-
EVA1B-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EVI5L-
-
-
-
3Gain-
EVX1-
-
-
-
3Gain-
EWSR1-
-
-
-
3Gain-
EXD3-
-
-
-
3Gain-
EXO5-
-
-
-
1Loss-
EXOC1-
-
-
-
6Amp-
EXOC1L-
-
-
-
6Amp-
EXOC3-
-
-
-
3Gain-
EXOC3L1-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC2-
-
-
-
3Gain-
EXOSC3-
-
-
-
5Amp-
EXOSC5-
-
-
-
3Gain-
EXOSC6-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXOSC9-
-
-
-
1Loss-
EXTL1-
-
-
-
1Loss-
EXTL2-
-
-
-
1Loss-
EYA1-
-
-
-
1Loss-
EYA2-
-
-
-
1Loss-
EYA3-
-
-
-
1Loss-
EYSp.A1984S
Missense
SNP
0.251
2--
EZH2-
-
-
-
5Amp-
F10-
-
-
-
3Gain-
F11-
-
-
-
1Loss-
F2RL3-
-
-
-
4Gain-
F3-
-
-
-
1Loss-
F7-
-
-
-
3Gain-
FA2H-
-
-
-
1Loss-
FAAH-
-
-
-
1Loss-
FAAP20-
-
-
-
1Loss-
FAAP24-
-
-
-
3Gain-
FABP12-
-
-
-
1Loss-
FABP2-
-
-
-
1Loss-
FABP3-
-
-
-
1Loss-
FABP4-
-
-
-
1Loss-
FABP5-
-
-
-
1Loss-
FABP9-
-
-
-
1Loss-
FAF1-
-
-
-
1Loss-
FAIM-
-
-
-
4Gain-
FAIM2-
-
-
-
3Gain-
FAM102A-
-
-
-
3Gain-
FAM102B-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
1Loss-
FAM110D-
-
-
-
1Loss-
FAM117B-
-
-
-
1Loss-
FAM118A-
-
-
-
1Loss-
FAM122A-
-
-
-
5Amp-
FAM124B-
-
-
-
1Loss-
FAM126A-
-
-
-
3Gain-
FAM126B-
-
-
-
1Loss-
FAM129B-
-
-
-
3Gain-
FAM129C-
-
-
-
4Gain-
FAM131A-
-
-
-
4Gain-
FAM131B-
-
-
-
5Amp-
FAM131C-
-
-
-
1Loss-
FAM135Ap.G1325A
Missense
SNP
0.311
2--
FAM13A-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM151A-
-
-
-
1Loss-
FAM155A-
-
-
-
3Gain-
FAM160A1-
-
-
-
1Loss-
FAM162A-
-
-
-
4Gain-
FAM163B-
-
-
-
3Gain-
FAM166A-
-
-
-
3Gain-
FAM166B-
-
-
-
5Amp-
FAM167B-
-
-
-
1Loss-
FAM169B-
-
-
-
1Loss-
FAM173B-
-
-
-
3Gain-
FAM180A-
-
-
-
3Gain-
FAM183A-
-
-
-
1Loss-
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM189A2-
-
-
-
5Amp-
FAM192A-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM198B-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A2-
-
-
-
3Gain-
FAM19A3-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM205A-
-
-
-
5Amp-
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM20C-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM214A-
-
-
-
1Loss-
FAM214B-
-
-
-
5Amp-
FAM216A-
-
-
-
3Gain-
FAM218A-
-
-
-
1Loss-
FAM219A-
-
-
-
5Amp-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM221B-
-
-
-
5Amp-
FAM222A-
-
-
-
3Gain-
FAM227A-
-
-
-
5Amp-
FAM227B-
-
-
-
1Loss-
FAM229A-
-
-
-
1Loss-
FAM234B-
-
-
-
3Gain-
FAM237A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM240B-
-
-
-
5Amp-
FAM241A-
-
-
-
1Loss-
FAM32A-
-
-
-
4Gain-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
4Gain-
FAM43B-
-
-
-
1Loss-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM69B-
-
-
-
3Gain-
FAM69Cp.L149Q
Missense
SNP
1.000
1Loss-
FAM71C-
-
-
-
3Gain-
FAM71E1-
-
-
-
1Loss-
FAM76A-
-
-
-
1Loss-
FAM78A-
-
-
-
3Gain-
FAM81A-
-
-
-
1Loss-
FAM83Bp.A531G
Missense
SNP
0.328
2--
FAM83D-
-
-
-
1Loss-
FAM83F-
-
-
-
1Loss-
FAM92A-
-
-
-
1Loss-
FAM92B-
-
-
-
1Loss-
FAM95C-
-
-
-
5Amp-
FAM98C-
-
-
-
3Gain-
FANCA-
-
-
-
1Loss-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCG-
-
-
-
5Amp-
FAR2-
-
-
-
3Gain-
FARP2-
-
-
-
1Loss-
FARSA-
-
-
-
3Gain-
FARSB-
-
-
-
1Loss-
FASTK-
-
-
-
3Gain-
FASTKD2-
-
-
-
1Loss-
FASTKD3-
-
-
-
3Gain-
FASTKD5-
-
-
-
3Gain-
FAT1-
-
-
-
1Loss-
FAT3p.N3973K
Missense
SNP
0.305
2--
FAT4-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBL-
-
-
-
3Gain-
FBLIM1-
-
-
-
1Loss-
FBLN1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBLN7p.X316_splice
Splice_Site
SNP
0.529
2--
FBN1-
-
-
-
1Loss-
FBN3-
-
-
-
3Gain-
FBRSL1-
-
-
-
3Gain-
FBXL12-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL7-
-
-
-
3Gain-
FBXL8-
-
-
-
1Loss-
FBXO10-
-
-
-
5Amp-
FBXO15-
-
-
-
1Loss-
FBXO17-
-
-
-
3Gain-
FBXO2-
-
-
-
1Loss-
FBXO21-
-
-
-
3Gain-
FBXO27-
-
-
-
3Gain-
FBXO31-
-
-
-
1Loss-
FBXO36-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO40-
-
-
-
4Gain-
FBXO42-
-
-
-
1Loss-
FBXO43-
-
-
-
1Loss-
FBXO44-
-
-
-
1Loss-
FBXO45-
-
-
-
4Gain-
FBXO6-
-
-
-
1Loss-
FBXO7-
-
-
-
3Gain-
FBXO8-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW2-
-
-
-
3Gain-
FBXW5-
-
-
-
3Gain-
FBXW7-
-
-
-
1Loss-
FBXW8-
-
-
-
3Gain-
FBXW9-
-
-
-
3Gain-
FCER2-
-
-
-
3Gain-
FCGBP-
-
-
-
3Gain-
FCGR1A-
-
-
-
1Loss-
FCGR1B-
-
-
-
1Loss-
FCGRT-
-
-
-
1Loss-
FCHO1-
-
-
-
4Gain-
FCHO2p.X166_splice
Splice_Site
SNP
1.000
2--
FCN1-
-
-
-
3Gain-
FCN2-
-
-
-
3Gain-
FCN3-
-
-
-
1Loss-
FCRL3p.H323N
Missense
SNP
0.567
2--
FDCSP-
-
-
-
1Loss-
FDX2-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FETUB-
-
-
-
4Gain-
FEV-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD4-
-
-
-
3Gain-
FGD5-
-
-
-
1Loss-
FGD6-
-
-
-
3Gain-
FGF10-
-
-
-
3Gain-
FGF12-
-
-
-
4Gain-
FGF14-
-
-
-
3Gain-
FGF2-
-
-
-
1Loss-
FGF22-
-
-
-
3Gain-
FGF23-
-
-
-
3Gain-
FGF5p.P41H
Missense
SNP
1.000
1Loss-
FGF6-
-
-
-
3Gain-
FGF7-
-
-
-
1Loss-
FGFR1OP2-
-
-
-
3Gain-
FGG-
-
-
-
1Loss-
FGGY-
-
-
-
1Loss-
FGR-
-
-
-
1Loss-
FHAD1-
-
-
-
1Loss-
FHDC1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHL3-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FHOD3-
-
-
-
3Gain-
FIBCD1-
-
-
-
3Gain-
FICD-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FILIP1L-
-
-
-
4Gain-
FIP1L1-
-
-
-
3Gain-
FITM2-
-
-
-
1Loss-
FKBP11-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FKBP8-
-
-
-
5Amp-
FKBP9-
-
-
-
3Gain-
FLNB-
-
-
-
1Loss-
FLRT2-
-
-
-
3Gain-
FLRT3-
-
-
-
3Gain-
FLT3LG-
-
-
-
1Loss-
FMC1-
-
-
-
7Amp-
FMNL2-
-
-
-
3Gain-
FMNL3-
-
-
-
3Gain-
FN1-
-
-
-
1Loss-
FNBP1-
-
-
-
3Gain-
FNBP1L-
-
-
-
1Loss-
FNDC10-
-
-
-
1Loss-
FNDC3B-
-
-
-
8Amp-
FNDC5-
-
-
-
1Loss-
FNDC7-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FOCAD-
-
-
-
5Amp-
FOXA2-
-
-
-
3Gain-
FOXB1-
-
-
-
1Loss-
FOXB2-
-
-
-
1Loss-
FOXC2-
-
-
-
1Loss-
FOXD2-
-
-
-
1Loss-
FOXD3-
-
-
-
1Loss-
FOXE3-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXJ1p.D78Y
Missense
SNP
1.000
2--
FOXJ2-
-
-
-
3Gain-
FOXJ3-
-
-
-
1Loss-
FOXK1-
-
-
-
3Gain-
FOXL1-
-
-
-
1Loss-
FOXL2-
-
-
-
4Gain-
FOXL2NB-
-
-
-
4Gain-
FOXM1-
-
-
-
3Gain-
FOXN1-
-
-
-
6Amp-
FOXN4-
-
-
-
3Gain-
FOXO6-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXRED2-
-
-
-
3Gain-
FPGS-
-
-
-
3Gain-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FRAS1-
-
-
-
1Loss-
FREM1-
-
-
-
5Amp-
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD3-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRMPD1-
-
-
-
5Amp-
FRRS1-
-
-
-
1Loss-
FRS2-
-
-
-
3Gain-
FSBP-
-
-
-
1Loss-
FSCN1-
-
-
-
3Gain-
FSD1-
-
-
-
3Gain-
FSIP2-
-
-
-
3Gain-
FSTL1-
-
-
-
4Gain-
FSTL3-
-
-
-
3Gain-
FSTL5p.Q202H
Missense
SNP
1.000
1Loss-
FTCDNL1-
-
-
-
1Loss-
FTL-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUBP3-
-
-
-
3Gain-
FUCA1-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUT3-
-
-
-
3Gain-
FUT5-
-
-
-
3Gain-
FUT6-
-
-
-
3Gain-
FUT7-
-
-
-
3Gain-
FUZ-
-
-
-
1Loss-
FXN-
-
-
-
5Amp-
FXR1-
-
-
-
4Gain-
FYB1-
-
-
-
3Gain-
FYB2-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
4Gain-
FZD10-
-
-
-
3Gain-
FZD5-
-
-
-
1Loss-
FZD6-
-
-
-
1Loss-
FZD7-
-
-
-
1Loss-
FZD8-
-
-
-
1Loss-
FZR1-
-
-
-
3Gain-
G3BP2-
-
-
-
1Loss-
GAB1-
-
-
-
1Loss-
GAB4-
-
-
-
3Gain-
GABARAPL1-
-
-
-
3Gain-
GABARAPL2-
-
-
-
1Loss-
GABBR1p.R41Q
Missense
SNP
0.315
2--
GABPB1-
-
-
-
1Loss-
GABRA2p.M117I
Missense
SNP
0.358
2--
GABRA4p.T424I
Missense
SNP
0.650
2--
GABRD-
-
-
-
1Loss-
GABRR3-
-
-
-
4Gain-
GAD2-
-
-
-
1Loss-
GADD45A-
-
-
-
1Loss-
GADD45B-
-
-
-
3Gain-
GADD45GIP1-
-
-
-
3Gain-
GADL1-
-
-
-
1Loss-
GAL3ST1-
-
-
-
3Gain-
GAL3ST2-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
3Gain-
GALNT11-
-
-
-
3Gain-
GALNT13-
-
-
-
3Gain-
GALNT15-
-
-
-
1Loss-
GALNT5-
-
-
-
3Gain-
GALNT6-
-
-
-
3Gain-
GALNT7-
-
-
-
1Loss-
GALNT8-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
5Amp-
GALT-
-
-
-
5Amp-
GAMT-
-
-
-
3Gain-
GAN-
-
-
-
1Loss-
GAP43-
-
-
-
4Gain-
GAPDH-
-
-
-
3Gain-
GAPVD1-
-
-
-
3Gain-
GAR1-
-
-
-
1Loss-
GAREM1-
-
-
-
3Gain-
GARNL3-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GAS1-
-
-
-
1Loss-
GAS2p.R225L
Missense
SNP
0.238
2--
GAS2L1-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GAS6-
-
-
-
3Gain-
GAS8-
-
-
-
1Loss-
GATA2-
-
-
-
4Gain-
GATA3-
-
-
-
1Loss-
GATA6-
-
-
-
3Gain-
GATAD2A-
-
-
-
5Amp-
GATB-
-
-
-
1Loss-
GATC-
-
-
-
3Gain-
GATM-
-
-
-
1Loss-
GBA2-
-
-
-
5Amp-
GBE1-
-
-
-
1Loss-
GBGT1-
-
-
-
3Gain-
GBP1-
-
-
-
1Loss-
GBP2-
-
-
-
1Loss-
GBP3-
-
-
-
1Loss-
GBP4-
-
-
-
1Loss-
GBP5-
-
-
-
1Loss-
GBP6-
-
-
-
1Loss-
GBP7-
-
-
-
1Loss-
GBX1-
-
-
-
3Gain-
GBX2-
-
-
-
1Loss-
GC-
-
-
-
1Loss-
GCAT-
-
-
-
5Amp-
GCDH-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCLM-
-
-
-
1Loss-
GCN1-
-
-
-
3Gain-
GCNT1-
-
-
-
1Loss-
GCNT3-
-
-
-
1Loss-
GCOM1-
-
-
-
1Loss-
GCSAM-
-
-
-
4Gain-
GCSH-
-
-
-
1Loss-
GDA-
-
-
-
1Loss-
GDAP1-
-
-
-
1Loss-
GDAP1L1-
-
-
-
1Loss-
GDAP2-
-
-
-
1Loss-
GDF1-
-
-
-
5Amp-
GDF11-
-
-
-
3Gain-
GDF15-
-
-
-
5Amp-
GDF3-
-
-
-
3Gain-
GDF6-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GEM-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFI1-
-
-
-
1Loss-
GFI1B-
-
-
-
3Gain-
GFM1-
-
-
-
8Amp-
GFOD2-
-
-
-
1Loss-
GFRA4-
-
-
-
3Gain-
GFY-
-
-
-
1Loss-
GGA1-
-
-
-
5Amp-
GGACT-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
1Loss-
GGN-
-
-
-
3Gain-
GGT1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GGTLC2-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
8Amp-
GIGYF2-
-
-
-
1Loss-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6p.E7K
Missense
SNP
0.487
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIMD1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GIPC1-
-
-
-
3Gain-
GIPC2-
-
-
-
1Loss-
GIPC3-
-
-
-
3Gain-
GIT2-
-
-
-
3Gain-
GJA4-
-
-
-
1Loss-
GJA9-
-
-
-
1Loss-
GJA9-MYCBP-
-
-
-
1Loss-
GJB3-
-
-
-
1Loss-
GJB4-
-
-
-
1Loss-
GJB5-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GK5-
-
-
-
4Gain-
GKAP1-
-
-
-
1Loss-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLDC-
-
-
-
5Amp-
GLDN-
-
-
-
1Loss-
GLE1-
-
-
-
3Gain-
GLG1-
-
-
-
1Loss-
GLI1-
-
-
-
3Gain-
GLI2p.D615F
p.Q1467H
Missense
Missense
DNP
SNP
0.549
0.554
2--
GLI3-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIPR2-
-
-
-
5Amp-
GLIS1-
-
-
-
1Loss-
GLIS3-
-
-
-
5Amp-
GLMN-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLS2p.C433F
Missense
SNP
0.364
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT6D1-
-
-
-
3Gain-
GLT8D1-
-
-
-
1Loss-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GLYCTK-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GMFG-
-
-
-
3Gain-
GMIP-
-
-
-
4Gain-
GMNC-
-
-
-
4Gain-
GMPPA-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GMPS-
-
-
-
9Amp-
GNA11-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNA14-
-
-
-
1Loss-
GNA15-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAI3-
-
-
-
1Loss-
GNAL-
-
-
-
3Gain-
GNAO1-
-
-
-
1Loss-
GNAQ-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNAT2-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
3Gain-
GNB1-
-
-
-
1Loss-
GNB1L-
-
-
-
3Gain-
GNB3-
-
-
-
3Gain-
GNB4-
-
-
-
4Gain-
GNB5-
-
-
-
1Loss-
GNE-
-
-
-
5Amp-
GNG12-
-
-
-
1Loss-
GNG14-
-
-
-
3Gain-
GNG5-
-
-
-
1Loss-
GNG7-
-
-
-
3Gain-
GNL2-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GNPTAB-
-
-
-
3Gain-
GNRH2-
-
-
-
3Gain-
GNRHR-
-
-
-
1Loss-
GNS-
-
-
-
3Gain-
GOLGA1-
-
-
-
3Gain-
GOLGA2-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGA4-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGB1-
-
-
-
4Gain-
GOLIM4-
-
-
-
11Amp-
GOLM1-
-
-
-
1Loss-
GOLPH3-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GORASP1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GP5-
-
-
-
4Gain-
GP9-
-
-
-
4Gain-
GPAT3-
-
-
-
1Loss-
GPATCH1-
-
-
-
3Gain-
GPATCH3-
-
-
-
1Loss-
GPBAR1-
-
-
-
1Loss-
GPBP1L1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPCPD1-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPD2-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPM6A-
-
-
-
1Loss-
GPN2-
-
-
-
1Loss-
GPN3-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR1-
-
-
-
1Loss-
GPR107-
-
-
-
3Gain-
GPR108-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR149-
-
-
-
9Amp-
GPR15-
-
-
-
4Gain-
GPR153-
-
-
-
1Loss-
GPR156-
-
-
-
4Gain-
GPR157-
-
-
-
1Loss-
GPR158-
-
-
-
1Loss-
GPR160-
-
-
-
11Amp-
GPR162-
-
-
-
3Gain-
GPR171-
-
-
-
4Gain-
GPR182-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR21-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR3-
-
-
-
1Loss-
GPR32-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR55-
-
-
-
1Loss-
GPR61-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR84-
-
-
-
3Gain-
GPR87-
-
-
-
4Gain-
GPR88-
-
-
-
1Loss-
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GPRIN3-
-
-
-
1Loss-
GPSM1-
-
-
-
3Gain-
GPSM2-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GPX4-
-
-
-
3Gain-
GPX7-
-
-
-
1Loss-
GRAMD1C-
-
-
-
4Gain-
GRAMD4p.A317G
Missense
SNP
1.000
1Loss-
GRAP2-
-
-
-
1Loss-
GRASP-
-
-
-
3Gain-
GRB10-
-
-
-
3Gain-
GREB1L-
-
-
-
3Gain-
GRHL2-
-
-
-
1Loss-
GRHL3-
-
-
-
1Loss-
GRHPR-
-
-
-
5Amp-
GRIA2-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK3-
-
-
-
1Loss-
GRIK5-
-
-
-
1Loss-
GRIN1-
-
-
-
3Gain-
GRIN2B-
-
-
-
3Gain-
GRIN3B-
-
-
-
3Gain-
GRIP1-
-
-
-
3Gain-
GRIP2-
-
-
-
1Loss-
GRK1-
-
-
-
3Gain-
GRK3-
-
-
-
3Gain-
GRK7-
-
-
-
4Gain-
GRM2-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM7-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRTP1-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSG1-
-
-
-
3Gain-
GSK3A-
-
-
-
1Loss-
GSK3B-
-
-
-
4Gain-
GSN-
-
-
-
3Gain-
GSTCD-
-
-
-
1Loss-
GSTK1-
-
-
-
5Amp-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GSX2-
-
-
-
3Gain-
GTF2A2-
-
-
-
1Loss-
GTF2B-
-
-
-
1Loss-
GTF2E1-
-
-
-
4Gain-
GTF2F1-
-
-
-
3Gain-
GTF2H3-
-
-
-
3Gain-
GTF3C3-
-
-
-
3Gain-
GTF3C4-
-
-
-
3Gain-
GTF3C5-
-
-
-
3Gain-
GTPBP1-
-
-
-
5Amp-
GTPBP3-
-
-
-
4Gain-
GTPBP4-
-
-
-
1Loss-
GTPBP8-
-
-
-
4Gain-
GTSE1-
-
-
-
1Loss-
GTSF1-
-
-
-
3Gain-
GTSF1L-
-
-
-
1Loss-
GUCA1C-
-
-
-
4Gain-
GUCA2A-
-
-
-
1Loss-
GUCA2B-
-
-
-
1Loss-
GUCD1-
-
-
-
3Gain-
GUCY1A1-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
GUCY2C-
-
-
-
3Gain-
GXYLT1-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GYG1-
-
-
-
4Gain-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GYS1-
-
-
-
1Loss-
GYS2-
-
-
-
3Gain-
GZF1-
-
-
-
3Gain-
GZMM-
-
-
-
3Gain-
H1F0-
-
-
-
5Amp-
H1FNT-
-
-
-
3Gain-
H1FOO-
-
-
-
4Gain-
H1FX-
-
-
-
4Gain-
H2AFJ-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H2AFZ-
-
-
-
1Loss-
H3F3C-
-
-
-
3Gain-
H6PD-
-
-
-
1Loss-
HACD2-
-
-
-
4Gain-
HACD4-
-
-
-
5Amp-
HACL1-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HAL-
-
-
-
3Gain-
HAND2-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAO2-
-
-
-
1Loss-
HAPLN4-
-
-
-
5Amp-
HAS1-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HAUS1-
-
-
-
3Gain-
HAUS6-
-
-
-
5Amp-
HAUS8-
-
-
-
4Gain-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCKp.E265*
Nonsense
SNP
0.453
2--
HCLS1-
-
-
-
4Gain-
HCN1-
-
-
-
3Gain-
HCN2-
-
-
-
3Gain-
HCRTR1-
-
-
-
1Loss-
HDAC1-
-
-
-
1Loss-
HDAC10-
-
-
-
1Loss-
HDAC11-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDAC7p.G469R
Missense
SNP
0.445
3Gain-
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
1Loss-
HDGFL2-
-
-
-
3Gain-
HDHD2-
-
-
-
3Gain-
HDHD5-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HDXp.H161Q
Missense
SNP
1.000
NDND-
HEATR3-
-
-
-
1Loss-
HEBP1-
-
-
-
3Gain-
HECTD3-
-
-
-
1Loss-
HECTD4-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HECW2p.H1320L
Missense
SNP
0.515
3Gain-
HEG1-
-
-
-
4Gain-
HELB-
-
-
-
3Gain-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HEMK1-
-
-
-
1Loss-
HENMT1-
-
-
-
1Loss-
HERC2p.P4499H
Missense
SNP
0.376
2--
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HES1-
-
-
-
4Gain-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HES6-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEY1-
-
-
-
1Loss-
HEYL-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HGD-
-
-
-
4Gain-
HGF-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHLA2-
-
-
-
4Gain-
HHLA3-
-
-
-
1Loss-
HIBADH-
-
-
-
3Gain-
HIC2-
-
-
-
3Gain-
HIF1ANp.M343I
Missense
SNP
0.155
2--
HIGD1A-
-
-
-
1Loss-
HIGD1C-
-
-
-
3Gain-
HINT2-
-
-
-
5Amp-
HIP1R-
-
-
-
3Gain-
HIPK1-
-
-
-
1Loss-
HIPK2-
-
-
-
7Amp-
HIPK4-
-
-
-
3Gain-
HIST2H2AA3-
-
-
-
1Loss-
HIST2H2AA4-
-
-
-
1Loss-
HIST2H2AC-
-
-
-
1Loss-
HIST2H2BE-
-
-
-
1Loss-
HIST2H2BF-
-
-
-
1Loss-
HIST2H3A-
-
-
-
1Loss-
HIST2H3C-
-
-
-
1Loss-
HIST2H3D-
-
-
-
1Loss-
HIST2H4A-
-
-
-
1Loss-
HIST2H4B-
-
-
-
1Loss-
HIST4H4-
-
-
-
3Gain-
HIVEP3-
-
-
-
1Loss-
HJURP-
-
-
-
1Loss-
HKR1-
-
-
-
3Gain-
HLTF-
-
-
-
4Gain-
HMCES-
-
-
-
4Gain-
HMCN2-
-
-
-
3Gain-
HMG20B-
-
-
-
3Gain-
HMGA2-
-
-
-
3Gain-
HMGB2-
-
-
-
1Loss-
HMGB4-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGCS2-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMGXB4-
-
-
-
3Gain-
HMOX1-
-
-
-
3Gain-
HMSD-
-
-
-
1Loss-
HNF1A-
-
-
-
3Gain-
HNF4A-
-
-
-
1Loss-
HNF4G-
-
-
-
1Loss-
HNRNPA1-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPK-
-
-
-
1Loss-
HNRNPL-
-
-
-
3Gain-
HNRNPM-
-
-
-
3Gain-
HNRNPR-
-
-
-
1Loss-
HNRNPUL1-
-
-
-
3Gain-
HOMER3-
-
-
-
5Amp-
HOOK1-
-
-
-
1Loss-
HOOK2-
-
-
-
3Gain-
HOPX-
-
-
-
9Amp-
HORMAD2-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3p.M224L
Missense
SNP
0.447
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HP-
-
-
-
1Loss-
HP1BP3-
-
-
-
1Loss-
HPCA-
-
-
-
1Loss-
HPCAL4-
-
-
-
1Loss-
HPD-
-
-
-
3Gain-
HPDL-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS3-
-
-
-
4Gain-
HPS4-
-
-
-
3Gain-
HPSE-
-
-
-
1Loss-
HRASLS-
-
-
-
4Gain-
HRC-
-
-
-
1Loss-
HRCT1-
-
-
-
5Amp-
HRG-
-
-
-
4Gain-
HRH1-
-
-
-
1Loss-
HRH4-
-
-
-
3Gain-
HRK-
-
-
-
3Gain-
HS2ST1-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
3Gain-
HSD11B1L-
-
-
-
3Gain-
HSD11B2-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B6-
-
-
-
3Gain-
HSD3B1-
-
-
-
1Loss-
HSD3B2-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSH2D-
-
-
-
4Gain-
HSP90B1-
-
-
-
3Gain-
HSPA12B-
-
-
-
3Gain-
HSPA13-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA5-
-
-
-
3Gain-
HSPB11-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPB8-
-
-
-
3Gain-
HSPBAP1-
-
-
-
4Gain-
HSPD1-
-
-
-
3Gain-
HSPE1-
-
-
-
3Gain-
HSPE1-MOB4-
-
-
-
3Gain-
HSPG2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR3C-
-
-
-
4Gain-
HTR3D-
-
-
-
4Gain-
HTR3E-
-
-
-
4Gain-
HTR5A-
-
-
-
3Gain-
HTR6-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HVCN1-
-
-
-
3Gain-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYDIN-
-
-
-
1Loss-
HYI-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
IAPP-
-
-
-
3Gain-
IBSP-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ICA1L-
-
-
-
1Loss-
ICAM1-
-
-
-
3Gain-
ICAM3-
-
-
-
3Gain-
ICAM4-
-
-
-
3Gain-
ICAM5-
-
-
-
3Gain-
ICE1-
-
-
-
3Gain-
ICE2-
-
-
-
1Loss-
ICMT-
-
-
-
1Loss-
ICOS-
-
-
-
1Loss-
ID3-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IDH2-DT-
-
-
-
NDNDSEMA4B--IDH2-DT
IDH3B-
-
-
-
3Gain-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDNK-
-
-
-
1Loss-
IER2-
-
-
-
3Gain-
IER3IP1-
-
-
-
3Gain-
IER5L-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
IFFO2-
-
-
-
1Loss-
IFI30-
-
-
-
5Amp-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFI6-
-
-
-
1Loss-
IFNA1-
-
-
-
5Amp-
IFNA10-
-
-
-
5Amp-
IFNA13-
-
-
-
5Amp-
IFNA14-
-
-
-
5Amp-
IFNA16-
-
-
-
5Amp-
IFNA17-
-
-
-
5Amp-
IFNA2-
-
-
-
5Amp-
IFNA21-
-
-
-
5Amp-
IFNA4-
-
-
-
5Amp-
IFNA5-
-
-
-
5Amp-
IFNA6-
-
-
-
5Amp-
IFNA7-
-
-
-
5Amp-
IFNA8-
-
-
-
5Amp-
IFNB1-
-
-
-
5Amp-
IFNE-
-
-
-
5Amp-
IFNG-
-
-
-
3Gain-
IFNK-
-
-
-
5Amp-
IFNL1-
-
-
-
3Gain-
IFNL2-
-
-
-
3Gain-
IFNL3-
-
-
-
3Gain-
IFNLR1-
-
-
-
1Loss-
IFNW1-
-
-
-
5Amp-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
4Gain-
IFT20-
-
-
-
6Amp-
IFT27-
-
-
-
3Gain-
IFT52-
-
-
-
1Loss-
IFT57-
-
-
-
4Gain-
IFT74-
-
-
-
5Amp-
IFT80-
-
-
-
8Amp-
IFT81-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGF1R-
-
-
-
1Loss-
IGF2BP2-
-
-
-
4Gain-
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP2-
-
-
-
1Loss-
IGFBP3-
-
-
-
3Gain-
IGFBP5-
-
-
-
1Loss-
IGFBP6-
-
-
-
3Gain-
IGFBP7-
-
-
-
9Amp-
IGFBPL1-
-
-
-
5Amp-
IGKV3-20p.E37K
Missense
SNP
0.435
NDND-
IGLL1-
-
-
-
3Gain-
IGLL5-
-
-
-
3Gain-
IGLON5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
3Gain-
IGSF10-
-
-
-
4Gain-
IGSF11-
-
-
-
4Gain-
IGSF21-
-
-
-
1Loss-
IGSF3-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IKBIP-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IKZF2-
-
-
-
1Loss-
IKZF4-
-
-
-
3Gain-
IL11RA-
-
-
-
5Amp-
IL12A-
-
-
-
8Amp-
IL12RB1-
-
-
-
5Amp-
IL12RB2-
-
-
-
1Loss-
IL15-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17RA-
-
-
-
3Gain-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL1RAP-
-
-
-
4Gain-
IL2-
-
-
-
1Loss-
IL20RB-
-
-
-
4Gain-
IL21-
-
-
-
1Loss-
IL22-
-
-
-
3Gain-
IL22RA1-
-
-
-
1Loss-
IL23A-
-
-
-
3Gain-
IL23R-
-
-
-
1Loss-
IL26-
-
-
-
3Gain-
IL27RA-
-
-
-
3Gain-
IL2RA-
-
-
-
1Loss-
IL2RB-
-
-
-
5Amp-
IL31-
-
-
-
3Gain-
IL33-
-
-
-
5Amp-
IL34-
-
-
-
1Loss-
IL4I1-
-
-
-
1Loss-
IL5RA-
-
-
-
0Del-
IL6-
-
-
-
3Gain-
IL7-
-
-
-
1Loss-
IL7Rp.E392K
Missense
SNP
0.496
3Gain-
ILDR1-
-
-
-
4Gain-
ILF3-
-
-
-
3Gain-
ILKAP-
-
-
-
1Loss-
ILVBL-
-
-
-
4Gain-
IMPA1-
-
-
-
1Loss-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPAD1-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
4Gain-
INCENPp.R745W
Missense
SNP
0.626
2--
ING1-
-
-
-
3Gain-
ING2-
-
-
-
1Loss-
ING4-
-
-
-
3Gain-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INKA2-
-
-
-
1Loss-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80C-
-
-
-
3Gain-
INO80D-
-
-
-
1Loss-
INPP4B-
-
-
-
1Loss-
INPP5Bp.L201M
Missense
SNP
1.000
1Loss-
INPP5D-
-
-
-
1Loss-
INPP5E-
-
-
-
3Gain-
INPP5J-
-
-
-
3Gain-
INSIG1-
-
-
-
3Gain-
INSL3-
-
-
-
4Gain-
INSL4-
-
-
-
5Amp-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
5Amp-
INSM1-
-
-
-
3Gain-
INSR-
-
-
-
3Gain-
INTS1-
-
-
-
3Gain-
INTS11-
-
-
-
1Loss-
INTS12-
-
-
-
1Loss-
INTS13-
-
-
-
3Gain-
INTS8-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO13-
-
-
-
1Loss-
IPO8-
-
-
-
3Gain-
IPP-
-
-
-
1Loss-
IQCA1-
-
-
-
1Loss-
IQCB1-
-
-
-
4Gain-
IQCC-
-
-
-
1Loss-
IQCD-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
4Gain-
IQCJ-
-
-
-
8Amp-
IQCJ-SCHIP1-
-
-
-
8Amp-
IQCN-
-
-
-
5Amp-
IQSEC1-
-
-
-
1Loss-
IQSEC3-
-
-
-
3Gain-
IRAK2-
-
-
-
1Loss-
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IRF2-
-
-
-
1Loss-
IRF3-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRS2-
-
-
-
3Gain-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX3-
-
-
-
1Loss-
IRX4-
-
-
-
3Gain-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISCA1-
-
-
-
1Loss-
ISCU-
-
-
-
3Gain-
ISG15-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ISX-
-
-
-
3Gain-
ISY1-
-
-
-
4Gain-
ISY1-RAB43-
-
-
-
4Gain-
ISYNA1-
-
-
-
5Amp-
ITFG1-
-
-
-
1Loss-
ITFG2-
-
-
-
3Gain-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA9-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB3BP-
-
-
-
1Loss-
ITGB5-
-
-
-
4Gain-
ITGB7-
-
-
-
3Gain-
ITGB8-
-
-
-
3Gain-
ITGBL1-
-
-
-
3Gain-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5p.G553W
Missense
SNP
1.000
1Loss-
ITM2C-
-
-
-
1Loss-
ITPA-
-
-
-
3Gain-
ITPKC-
-
-
-
3Gain-
ITPR1p.K100M
Missense
SNP
1.000
0Del-
ITPR2-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
IZUMO2-
-
-
-
1Loss-
IZUMO3-
-
-
-
5Amp-
IZUMO4-
-
-
-
3Gain-
JADE1-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAGN1-
-
-
-
1Loss-
JAK1-
-
-
-
1Loss-
JAK2-
-
-
-
5Amp-
JAK3-
-
-
-
4Gain-
JAZF1-
-
-
-
3Gain-
JCAD-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JOSD1-
-
-
-
5Amp-
JOSD2-
-
-
-
1Loss-
JPH1-
-
-
-
1Loss-
JPH2-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JSRP1-
-
-
-
3Gain-
JUN-
-
-
-
1Loss-
JUNB-
-
-
-
3Gain-
JUND-
-
-
-
5Amp-
KALRN-
-
-
-
4Gain-
KANK1-
-
-
-
5Amp-
KANK2-
-
-
-
3Gain-
KANK3-
-
-
-
3Gain-
KANK4-
-
-
-
1Loss-
KANSL1L-
-
-
-
1Loss-
KANSL2-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KAT14-
-
-
-
3Gain-
KAT2B-
-
-
-
1Loss-
KATNAL2-
-
-
-
3Gain-
KATNB1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD12-
-
-
-
4Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD8-
-
-
-
1Loss-
KCNA1-
-
-
-
3Gain-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNA7-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNAB2-
-
-
-
1Loss-
KCNB1-
-
-
-
1Loss-
KCNB2-
-
-
-
1Loss-
KCNC2-
-
-
-
3Gain-
KCNC3-
-
-
-
1Loss-
KCNC4-
-
-
-
1Loss-
KCND3-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG1-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH2-
-
-
-
3Gain-
KCNH3-
-
-
-
3Gain-
KCNH5p.W367R
Missense
SNP
0.335
2--
KCNH8-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ3-
-
-
-
3Gain-
KCNJ4-
-
-
-
5Amp-
KCNJ8-
-
-
-
3Gain-
KCNK15-
-
-
-
1Loss-
KCNK6-
-
-
-
3Gain-
KCNMB2-
-
-
-
4Gain-
KCNMB3-
-
-
-
4Gain-
KCNMB4-
-
-
-
3Gain-
KCNN1-
-
-
-
4Gain-
KCNN4-
-
-
-
1Loss-
KCNQ4-
-
-
-
1Loss-
KCNS1-
-
-
-
1Loss-
KCNS2-
-
-
-
1Loss-
KCNT1-
-
-
-
3Gain-
KCNV2-
-
-
-
5Amp-
KCTD1-
-
-
-
3Gain-
KCTD10-
-
-
-
3Gain-
KCTD17-
-
-
-
5Amp-
KCTD18-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KDELC1-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
5Amp-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM2B-
-
-
-
3Gain-
KDM4A-
-
-
-
1Loss-
KDM4B-
-
-
-
3Gain-
KDM4C-
-
-
-
5Amp-
KDM5A-
-
-
-
3Gain-
KDM7A-
-
-
-
7Amp-
KDR-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KEAP1-
-
-
-
3Gain-
KEL-
-
-
-
3Gain-
KERA-
-
-
-
3Gain-
KHDC1Lp.M76I
Missense
SNP
0.427
2--
KHDRBS1-
-
-
-
1Loss-
KHSRP-
-
-
-
3Gain-
KIAA0100-
-
-
-
6Amp-
KIAA0319L-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0895L-
-
-
-
1Loss-
KIAA0907p.A217T
Missense
SNP
0.356
NDND-
KIAA0930-
-
-
-
1Loss-
KIAA1109-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1211-
-
-
-
6Amp-
KIAA1217-
-
-
-
1Loss-
KIAA1257-
-
-
-
4Gain-
KIAA1324-
-
-
-
1Loss-
KIAA1328-
-
-
-
3Gain-
KIAA1522-
-
-
-
1Loss-
KIAA1549-
-
-
-
7Amp-
KIAA1551-
-
-
-
3Gain-
KIAA1671-
-
-
-
3Gain-
KIAA1755-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIAA2013-
-
-
-
1Loss-
KIAA2026-
-
-
-
5Amp-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
3Gain-
KIF17-
-
-
-
1Loss-
KIF1A-
-
-
-
1Loss-
KIF1B-
-
-
-
1Loss-
KIF21A-
-
-
-
3Gain-
KIF24-
-
-
-
5Amp-
KIF27-
-
-
-
1Loss-
KIF2Bp.Q487K
Missense
SNP
1.000
2--
KIF2C-
-
-
-
1Loss-
KIF5A-
-
-
-
3Gain-
KIF5B-
-
-
-
1Loss-
KIF5C-
-
-
-
3Gain-
KIF9-
-
-
-
1Loss-
KIFC3-
-
-
-
1Loss-
KIN-
-
-
-
1Loss-
KISS1R-
-
-
-
3Gain-
KIT-
-
-
-
3Gain-
KITLG-
-
-
-
3Gain-
KIZ-
-
-
-
3Gain-
KLF1-
-
-
-
3Gain-
KLF10-
-
-
-
1Loss-
KLF15-
-
-
-
4Gain-
KLF16-
-
-
-
3Gain-
KLF17-
-
-
-
1Loss-
KLF2-
-
-
-
4Gain-
KLF6-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLF9-
-
-
-
5Amp-
KLHDC4-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL14-
-
-
-
3Gain-
KLHL17-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL2-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL22-
-
-
-
3Gain-
KLHL24-
-
-
-
4Gain-
KLHL26-
-
-
-
5Amp-
KLHL30-
-
-
-
1Loss-
KLHL36p.V49F
Missense
SNP
0.548
1Loss-
KLHL40-
-
-
-
1Loss-
KLHL42-
-
-
-
3Gain-
KLHL6-
-
-
-
4Gain-
KLHL7-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
5Amp-
KLK1-
-
-
-
1Loss-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12-
-
-
-
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK15-
-
-
-
1Loss-
KLK2-
-
-
-
1Loss-
KLK3-
-
-
-
1Loss-
KLK4-
-
-
-
1Loss-
KLK5-
-
-
-
1Loss-
KLK6-
-
-
-
1Loss-
KLK7-
-
-
-
1Loss-
KLK8-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRG2-
-
-
-
7Amp-
KLRK1-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2D-
-
-
-
3Gain-
KMT5A-
-
-
-
3Gain-
KNCN-
-
-
-
1Loss-
KNG1-
-
-
-
4Gain-
KNTC1-
-
-
-
3Gain-
KPNA1-
-
-
-
4Gain-
KPNA4-
-
-
-
8Amp-
KPNA6-
-
-
-
1Loss-
KRAS-
-
-
-
3Gain-
KRBA1-
-
-
-
5Amp-
KRBOX1-
-
-
-
1Loss-
KREMEN1-
-
-
-
3Gain-
KRI1-
-
-
-
3Gain-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6Cp.R15L
Missense
SNP
0.214
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77p.G550R
Missense
SNP
0.554
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84-
-
-
-
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KRTAP1-1-
-
-
-
1Loss-
KRTAP1-3-
-
-
-
1Loss-
KRTAP1-5-
-
-
-
1Loss-
KRTAP12-2p.I138M
Missense
SNP
0.200
2--
KRTAP3-1-
-
-
-
1Loss-
KRTAP3-2-
-
-
-
1Loss-
KRTAP3-3-
-
-
-
1Loss-
KRTAP4-1-
-
-
-
1Loss-
KRTAP4-11-
-
-
-
1Loss-
KRTAP4-12-
-
-
-
1Loss-
KRTAP4-16-
-
-
-
1Loss-
KRTAP4-2-
-
-
-
1Loss-
KRTAP4-3-
-
-
-
1Loss-
KRTAP4-4-
-
-
-
1Loss-
KRTAP4-6-
-
-
-
1Loss-
KRTAP4-7-
-
-
-
1Loss-
KRTAP4-8-
-
-
-
1Loss-
KRTAP4-9-
-
-
-
1Loss-
KRTAP9-1-
-
-
-
1Loss-
KRTAP9-2-
-
-
-
1Loss-
KRTAP9-3-
-
-
-
1Loss-
KRTAP9-4-
-
-
-
1Loss-
KRTAP9-7-
-
-
-
1Loss-
KRTAP9-8-
-
-
-
1Loss-
KRTAP9-9-
-
-
-
1Loss-
KSR1-
-
-
-
6Amp-
KSR2-
-
-
-
3Gain-
KTI12-
-
-
-
1Loss-
KXD1-
-
-
-
5Amp-
KY-
-
-
-
4Gain-
KYAT1-
-
-
-
3Gain-
KYAT3-
-
-
-
1Loss-
L1TD1-
-
-
-
1Loss-
L34079.1-
-
-
-
1Loss-
L3MBTL1-
-
-
-
1Loss-
L3MBTL2-
-
-
-
1Loss-
L3MBTL4-
-
-
-
3Gain-
LACRT-
-
-
-
3Gain-
LACTB-
-
-
-
1Loss-
LACTB2-
-
-
-
1Loss-
LACTBL1-
-
-
-
1Loss-
LAG3-
-
-
-
3Gain-
LALBA-
-
-
-
3Gain-
LAMA1-
-
-
-
3Gain-
LAMA3-
-
-
-
3Gain-
LAMB2-
-
-
-
1Loss-
LAMC3-
-
-
-
3Gain-
LAMP1-
-
-
-
3Gain-
LAMP3-
-
-
-
4Gain-
LAMP5-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LAMTOR5-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
1Loss-
LAPTM5-
-
-
-
1Loss-
LARGE1-
-
-
-
3Gain-
LARP1B-
-
-
-
1Loss-
LARP4-
-
-
-
3Gain-
LARP4B-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LBP-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCK-
-
-
-
1Loss-
LCN1-
-
-
-
3Gain-
LCN10-
-
-
-
3Gain-
LCN12-
-
-
-
3Gain-
LCN15-
-
-
-
3Gain-
LCN2-
-
-
-
3Gain-
LCN6-
-
-
-
3Gain-
LCN8-
-
-
-
3Gain-
LCN9-
-
-
-
3Gain-
LCNL1-
-
-
-
3Gain-
LDHAL6B-
-
-
-
1Loss-
LDHB-
-
-
-
3Gain-
LDHD-
-
-
-
1Loss-
LDLR-
-
-
-
3Gain-
LDLRAD1-
-
-
-
1Loss-
LDLRAD2-
-
-
-
1Loss-
LDLRAD4-
-
-
-
3Gain-
LDLRAP1-
-
-
-
1Loss-
LEF1-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LEMD3-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEPR-
-
-
-
1Loss-
LEPROT-
-
-
-
1Loss-
LETMD1-
-
-
-
3Gain-
LEUTX-
-
-
-
3Gain-
LEXM-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
5Amp-
LGALS13-
-
-
-
3Gain-
LGALS14-
-
-
-
3Gain-
LGALS16-
-
-
-
3Gain-
LGALS2-
-
-
-
5Amp-
LGALS4-
-
-
-
3Gain-
LGALS7-
-
-
-
3Gain-
LGALS7B-
-
-
-
3Gain-
LGALS9-
-
-
-
6Amp-
LGR5-
-
-
-
3Gain-
LGSNp.M135K
Missense
SNP
0.318
2--
LHFPL4-
-
-
-
1Loss-
LHX2-
-
-
-
3Gain-
LHX3-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LHX6-
-
-
-
3Gain-
LHX8-
-
-
-
1Loss-
LIF-
-
-
-
3Gain-
LIFR-
-
-
-
3Gain-
LIG4-
-
-
-
3Gain-
LIM2-
-
-
-
1Loss-
LIMA1-
-
-
-
3Gain-
LIMD1-
-
-
-
1Loss-
LIMK2-
-
-
-
3Gain-
LIN28A-
-
-
-
1Loss-
LIN54-
-
-
-
1Loss-
LIN7A-
-
-
-
3Gain-
LIN7B-
-
-
-
1Loss-
LINGO2-
-
-
-
5Amp-
LINGO3-
-
-
-
3Gain-
LINS1-
-
-
-
1Loss-
LIPC-
-
-
-
1Loss-
LIPE-
-
-
-
1Loss-
LIPG-
-
-
-
3Gain-
LIPH-
-
-
-
4Gain-
LIPI-
-
-
-
1Loss-
LLCFC1-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMAN1-
-
-
-
1Loss-
LMBR1-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMBRD2-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMLN-
-
-
-
4Gain-
LMNB2-
-
-
-
3Gain-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LMO4-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMX1Ap.A178S
Missense
SNP
0.675
2--
LMX1B-
-
-
-
3Gain-
LNP1-
-
-
-
4Gain-
LNX1-
-
-
-
3Gain-
LONP1-
-
-
-
3Gain-
LONP2-
-
-
-
1Loss-
LOXHD1-
-
-
-
3Gain-
LPAR2-
-
-
-
4Gain-
LPAR3-
-
-
-
1Loss-
LPAR5-
-
-
-
3Gain-
LPCAT1-
-
-
-
3Gain-
LPCAT2-
-
-
-
1Loss-
LPCAT3-
-
-
-
3Gain-
LPIN2-
-
-
-
3Gain-
LPIN3-
-
-
-
1Loss-
LPP-
-
-
-
4Gain-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH3-
-
-
-
4Gain-
LRCOL1-
-
-
-
3Gain-
LRFN1-
-
-
-
3Gain-
LRFN5p.P267S
Missense
SNP
0.305
NDND-
LRG1-
-
-
-
3Gain-
LRGUK-
-
-
-
13Amp-
LRIF1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRIG3-
-
-
-
3Gain-
LRIT1p.R616M
Missense
SNP
0.689
2--
LRIT3-
-
-
-
1Loss-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP12-
-
-
-
1Loss-
LRP1Bp.K3640*
Nonsense
SNP
0.482
2--
LRP2BP-
-
-
-
1Loss-
LRP3-
-
-
-
3Gain-
LRP5L-
-
-
-
3Gain-
LRP6-
-
-
-
3Gain-
LRP8-
-
-
-
1Loss-
LRRC10-
-
-
-
3Gain-
LRRC14B-
-
-
-
3Gain-
LRRC15-
-
-
-
4Gain-
LRRC19-
-
-
-
5Amp-
LRRC2-
-
-
-
1Loss-
LRRC23-
-
-
-
3Gain-
LRRC25-
-
-
-
5Amp-
LRRC26-
-
-
-
3Gain-
LRRC28-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC30-
-
-
-
3Gain-
LRRC31-
-
-
-
11Amp-
LRRC34-
-
-
-
11Amp-
LRRC36-
-
-
-
1Loss-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC38-
-
-
-
1Loss-
LRRC39-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC40-
-
-
-
1Loss-
LRRC41-
-
-
-
1Loss-
LRRC42-
-
-
-
1Loss-
LRRC43-
-
-
-
3Gain-
LRRC47-
-
-
-
1Loss-
LRRC4B-
-
-
-
1Loss-
LRRC53-
-
-
-
1Loss-
LRRC58-
-
-
-
4Gain-
LRRC61-
-
-
-
3Gain-
LRRC66-
-
-
-
3Gain-
LRRC7-
-
-
-
1Loss-
LRRC72-
-
-
-
3Gain-
LRRC74B-
-
-
-
3Gain-
LRRC75B-
-
-
-
3Gain-
LRRC8A-
-
-
-
3Gain-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRC8E-
-
-
-
3Gain-
LRRCC1-
-
-
-
1Loss-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRIQ1-
-
-
-
3Gain-
LRRIQ3-
-
-
-
1Loss-
LRRIQ4-
-
-
-
11Amp-
LRRK1-
-
-
-
1Loss-
LRRK2p.G1737V
Missense
SNP
0.173
3Gain-
LRRN1-
-
-
-
0Del-
LRRN4-
-
-
-
3Gain-
LRSAM1-
-
-
-
3Gain-
LRTM1-
-
-
-
1Loss-
LRTM2-
-
-
-
3Gain-
LSAMP-
-
-
-
4Gain-
LSG1-
-
-
-
4Gain-
LSM10-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSM4-
-
-
-
5Amp-
LSM5-
-
-
-
3Gain-
LSM6-
-
-
-
1Loss-
LSM7-
-
-
-
3Gain-
LSMEM2-
-
-
-
1Loss-
LTA4H-
-
-
-
3Gain-
LTBP4-
-
-
-
3Gain-
LTBR-
-
-
-
3Gain-
LTF-
-
-
-
1Loss-
LUC7L2-
-
-
-
7Amp-
LUM-
-
-
-
3Gain-
LURAP1-
-
-
-
1Loss-
LURAP1L-
-
-
-
5Amp-
LUZP1-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LXN-
-
-
-
8Amp-
LY96-
-
-
-
1Loss-
LYL1-
-
-
-
3Gain-
LYN-
-
-
-
1Loss-
LYPD3-
-
-
-
1Loss-
LYPD5-
-
-
-
1Loss-
LYPD6-
-
-
-
3Gain-
LYPD6B-
-
-
-
3Gain-
LYPLA1-
-
-
-
1Loss-
LYPLA2-
-
-
-
1Loss-
LYRM9-
-
-
-
6Amp-
LYSMD2-
-
-
-
1Loss-
LYSMD4-
-
-
-
1Loss-
LYZ-
-
-
-
3Gain-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZIC-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTR1-
-
-
-
3Gain-
LZTS3-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MAATS1-
-
-
-
4Gain-
MAB21L2-
-
-
-
1Loss-
MAB21L3-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MACF1-
-
-
-
1Loss-
MACO1-
-
-
-
1Loss-
MACROD2-
-
-
-
3Gain-
MAD1L1p.E517K
Missense
SNP
0.549
3Gain-
MAD2L1-
-
-
-
1Loss-
MAD2L2-
-
-
-
1Loss-
MADCAM1-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAFB-
-
-
-
1Loss-
MAFF-
-
-
-
5Amp-
MAFK-
-
-
-
3Gain-
MAGEF1-
-
-
-
4Gain-
MAGI1-
-
-
-
1Loss-
MAGI3-
-
-
-
1Loss-
MAGOH-
-
-
-
1Loss-
MAGOHB-
-
-
-
3Gain-
MAIP1-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MALSU1-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAMDC2-
-
-
-
5Amp-
MAMDC4-
-
-
-
3Gain-
MAML3-
-
-
-
1Loss-
MAN1A2-
-
-
-
1Loss-
MAN1B1-
-
-
-
3Gain-
MAN1C1-
-
-
-
1Loss-
MAN2B1-
-
-
-
3Gain-
MANBA-
-
-
-
1Loss-
MANEAL-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP1A-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3B2-
-
-
-
3Gain-
MAP1S-
-
-
-
4Gain-
MAP2-
-
-
-
1Loss-
MAP2K2-
-
-
-
3Gain-
MAP2K7-
-
-
-
3Gain-
MAP3K10-
-
-
-
3Gain-
MAP3K12-
-
-
-
3Gain-
MAP3K13-
-
-
-
4Gain-
MAP3K6-
-
-
-
1Loss-
MAP3K8-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K1-
-
-
-
3Gain-
MAP6p.G563R
Missense
SNP
0.603
2--
MAP6D1-
-
-
-
4Gain-
MAP7D1-
-
-
-
1Loss-
MAP9-
-
-
-
1Loss-
MAPK1-
-
-
-
3Gain-
MAPK10-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK4-
-
-
-
3Gain-
MAPK6-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPKAP1-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
3Gain-
MAPRE2-
-
-
-
3Gain-
MARCH1-
-
-
-
1Loss-
MARCH11-
-
-
-
3Gain-
MARCH2-
-
-
-
3Gain-
MARCH4-
-
-
-
1Loss-
MARCH6-
-
-
-
3Gain-
MARCH9-
-
-
-
3Gain-
MARCKSL1-
-
-
-
1Loss-
MARS-
-
-
-
3Gain-
MARS2-
-
-
-
3Gain-
MARVELD3-
-
-
-
1Loss-
MASP1-
-
-
-
4Gain-
MASP2-
-
-
-
1Loss-
MAST1-
-
-
-
3Gain-
MAST2-
-
-
-
1Loss-
MAST3-
-
-
-
5Amp-
MASTL-
-
-
-
1Loss-
MATK-
-
-
-
3Gain-
MATN1-
-
-
-
1Loss-
MATN2-
-
-
-
1Loss-
MATN4-
-
-
-
1Loss-
MAU2-
-
-
-
5Amp-
MAVS-
-
-
-
3Gain-
MB-
-
-
-
3Gain-
MB21D2-
-
-
-
4Gain-
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBD3-
-
-
-
3Gain-
MBD3L1-
-
-
-
3Gain-
MBD3L2-
-
-
-
3Gain-
MBD3L2B-
-
-
-
3Gain-
MBD3L3-
-
-
-
3Gain-
MBD3L4-
-
-
-
3Gain-
MBD3L5-
-
-
-
3Gain-
MBD4-
-
-
-
4Gain-
MBD5-
-
-
-
3Gain-
MBD6-
-
-
-
3Gain-
MBNL1-
-
-
-
4Gain-
MBOAT1p.X454_splice
Splice_Site
SNP
0.614
2--
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC2R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
3Gain-
MCAT-
-
-
-
1Loss-
MCCC1-
-
-
-
4Gain-
MCEMP1-
-
-
-
3Gain-
MCF2L-
-
-
-
3Gain-
MCF2L2-
-
-
-
4Gain-
MCHR1-
-
-
-
1Loss-
MCM10-
-
-
-
1Loss-
MCM2-
-
-
-
4Gain-
MCM4-
-
-
-
1Loss-
MCM5-
-
-
-
3Gain-
MCM8-
-
-
-
3Gain-
MCMDC2-
-
-
-
1Loss-
MCOLN1-
-
-
-
3Gain-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCRS1-
-
-
-
3Gain-
MCUB-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
ME2-
-
-
-
3Gain-
MEAF6-
-
-
-
1Loss-
MECOM-
-
-
-
11Amp-
MECR-
-
-
-
1Loss-
MED10-
-
-
-
3Gain-
MED12L-
-
-
-
4Gain-
MED13L-
-
-
-
3Gain-
MED15-
-
-
-
3Gain-
MED16-
-
-
-
3Gain-
MED18-
-
-
-
1Loss-
MED21-
-
-
-
3Gain-
MED22-
-
-
-
3Gain-
MED25p.G436D
Missense
SNP
0.477
1Loss-
MED26-
-
-
-
4Gain-
MED27-
-
-
-
3Gain-
MED29-
-
-
-
3Gain-
MED8-
-
-
-
1Loss-
MEF2A-
-
-
-
1Loss-
MEF2B-
-
-
-
5Amp-
MEGF6-
-
-
-
1Loss-
MEGF8-
-
-
-
1Loss-
MEGF9-
-
-
-
3Gain-
MEI1-
-
-
-
1Loss-
MELK-
-
-
-
5Amp-
MELTF-
-
-
-
4Gain-
MEOX2-
-
-
-
3Gain-
MEP1B-
-
-
-
3Gain-
MEPE-
-
-
-
1Loss-
METAP1-
-
-
-
1Loss-
METAP2-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL14-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL21C-
-
-
-
3Gain-
METTL25-
-
-
-
3Gain-
METTL4-
-
-
-
3Gain-
METTL6-
-
-
-
1Loss-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
MEX3C-
-
-
-
3Gain-
MEX3D-
-
-
-
3Gain-
MFAP1-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFAP5-
-
-
-
3Gain-
MFF-
-
-
-
1Loss-
MFN1-
-
-
-
4Gain-
MFN2-
-
-
-
1Loss-
MFNG-
-
-
-
5Amp-
MFSD1-
-
-
-
8Amp-
MFSD12-
-
-
-
3Gain-
MFSD14A-
-
-
-
1Loss-
MFSD2A-
-
-
-
1Loss-
MFSD5-
-
-
-
3Gain-
MFSD8-
-
-
-
1Loss-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGARP-
-
-
-
1Loss-
MGAT3-
-
-
-
1Loss-
MGAT4C-
-
-
-
3Gain-
MGAT4D-
-
-
-
1Loss-
MGAT5Bp.V144M
Missense
SNP
1.000
2--
MGLL-
-
-
-
4Gain-
MGME1-
-
-
-
3Gain-
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MGST2-
-
-
-
1Loss-
MIA-
-
-
-
3Gain-
MIA-RAB4B-
-
-
-
3Gain-
MIB1-
-
-
-
3Gain-
MIB2-
-
-
-
1Loss-
MICAL3-
-
-
-
3Gain-
MICALL1-
-
-
-
5Amp-
MICALL2-
-
-
-
3Gain-
MIDN-
-
-
-
3Gain-
MIEF1-
-
-
-
1Loss-
MIER1-
-
-
-
1Loss-
MIER2-
-
-
-
3Gain-
MIF-
-
-
-
3Gain-
MIGA1-
-
-
-
1Loss-
MIGA2-
-
-
-
3Gain-
MIIP-
-
-
-
1Loss-
MINDY2-
-
-
-
1Loss-
MINDY4-
-
-
-
3Gain-
MINDY4B-
-
-
-
4Gain-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
1Loss-
MIP-
-
-
-
3Gain-
MISP-
-
-
-
3Gain-
MISP3-
-
-
-
3Gain-
MITF-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKNK1-
-
-
-
1Loss-
MKNK2-
-
-
-
3Gain-
MKRN1-
-
-
-
7Amp-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKRN3p.D120H
Missense
SNP
0.659
2--
MKX-
-
-
-
1Loss-
MLANA-
-
-
-
5Amp-
MLC1-
-
-
-
1Loss-
MLEC-
-
-
-
3Gain-
MLF1-
-
-
-
8Amp-
MLF2-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLLT1-
-
-
-
3Gain-
MLLT10-
-
-
-
1Loss-
MLLT3-
-
-
-
5Amp-
MLPH-
-
-
-
1Loss-
MLXIP-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMAB-
-
-
-
3Gain-
MMACHC-
-
-
-
1Loss-
MMADHC-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MME-
-
-
-
9Amp-
MMEL1-
-
-
-
1Loss-
MMP11-
-
-
-
3Gain-
MMP15-
-
-
-
1Loss-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMP2-
-
-
-
1Loss-
MMP23B-
-
-
-
1Loss-
MMP26p.Y111*
Nonsense
SNP
0.328
2--
MMP9-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MN1-
-
-
-
3Gain-
MND1-
-
-
-
1Loss-
MNS1-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOB1B-
-
-
-
1Loss-
MOB3A-
-
-
-
3Gain-
MOB3B-
-
-
-
5Amp-
MOB3C-
-
-
-
1Loss-
MOB4-
-
-
-
3Gain-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
3Gain-
MOCS3-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MON2-
-
-
-
3Gain-
MORC1-
-
-
-
4Gain-
MORC2-
-
-
-
3Gain-
MORN1-
-
-
-
1Loss-
MORN3-
-
-
-
3Gain-
MORN5-
-
-
-
3Gain-
MOS-
-
-
-
1Loss-
MOV10-
-
-
-
1Loss-
MOV10L1-
-
-
-
1Loss-
MPDZ-
-
-
-
5Amp-
MPHOSPH6-
-
-
-
1Loss-
MPHOSPH9-
-
-
-
3Gain-
MPL-
-
-
-
1Loss-
MPLKIP-
-
-
-
3Gain-
MPP4-
-
-
-
1Loss-
MPP6-
-
-
-
3Gain-
MPP7-
-
-
-
1Loss-
MPPE1-
-
-
-
3Gain-
MPPED1-
-
-
-
1Loss-
MPST-
-
-
-
5Amp-
MPV17L2-
-
-
-
5Amp-
MRAS-
-
-
-
4Gain-
MREG-
-
-
-
1Loss-
MRI1-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRO-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
MROH2B-
-
-
-
3Gain-
MROH7-
-
-
-
1Loss-
MROH7-TTC4-
-
-
-
1Loss-
MRPL1-
-
-
-
1Loss-
MRPL15-
-
-
-
1Loss-
MRPL20-
-
-
-
1Loss-
MRPL3-
-
-
-
4Gain-
MRPL32-
-
-
-
3Gain-
MRPL34-
-
-
-
4Gain-
MRPL36-
-
-
-
3Gain-
MRPL37-
-
-
-
1Loss-
MRPL38p.G180D
Missense
SNP
1.000
2--
MRPL4-
-
-
-
3Gain-
MRPL41-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL44-
-
-
-
1Loss-
MRPL47-
-
-
-
4Gain-
MRPL51-
-
-
-
3Gain-
MRPL54-
-
-
-
3Gain-
MRPS12-
-
-
-
3Gain-
MRPS15-
-
-
-
1Loss-
MRPS17-
-
-
-
3Gain-
MRPS18C-
-
-
-
1Loss-
MRPS2-
-
-
-
3Gain-
MRPS22-
-
-
-
4Gain-
MRPS24-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS26-
-
-
-
3Gain-
MRPS28-
-
-
-
1Loss-
MRPS30-
-
-
-
3Gain-
MRPS33-
-
-
-
7Amp-
MRPS35-
-
-
-
3Gain-
MRRF-
-
-
-
3Gain-
MRTFA-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MSC-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSI1-
-
-
-
3Gain-
MSL2-
-
-
-
4Gain-
MSMO1-
-
-
-
1Loss-
MSMP-
-
-
-
5Amp-
MSRB2-
-
-
-
1Loss-
MSRB3-
-
-
-
3Gain-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTAP-
-
-
-
5Amp-
MTCL1-
-
-
-
3Gain-
MTDH-
-
-
-
1Loss-
MTERF2-
-
-
-
3Gain-
MTERF3-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTF1-
-
-
-
1Loss-
MTF2-
-
-
-
1Loss-
MTFP1-
-
-
-
3Gain-
MTFR1-
-
-
-
1Loss-
MTFR1L-
-
-
-
1Loss-
MTHFD2L-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTMR12-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR2p.R159T
Missense
SNP
0.283
2--
MTMR3-
-
-
-
3Gain-
MTNR1A-
-
-
-
1Loss-
MTOR-
-
-
-
1Loss-
MTPAP-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTRR-
-
-
-
3Gain-
MTSS1L-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MTUS2p.G1023C
Missense
SNP
1.000
2--
MUC13-
-
-
-
4Gain-
MUC16p.E10678K
Missense
SNP
0.534
3Gain-
MUC19-
-
-
-
3Gain-
MUC20-
-
-
-
4Gain-
MUC4-
-
-
-
4Gain-
MUC7-
-
-
-
1Loss-
MUCL1-
-
-
-
3Gain-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
3Gain-
MUSKp.N826I
Missense
SNP
0.187
2--
MUSTN1-
-
-
-
1Loss-
MUTYH-
-
-
-
1Loss-
MVB12A-
-
-
-
4Gain-
MVB12B-
-
-
-
3Gain-
MVD-
-
-
-
1Loss-
MVK-
-
-
-
3Gain-
MXI1-
-
-
-
2-MXI1--SH3PXD2A
MXRA8-
-
-
-
1Loss-
MYBL1-
-
-
-
1Loss-
MYBL2-
-
-
-
1Loss-
MYBPC1-
-
-
-
3Gain-
MYBPC2-
-
-
-
1Loss-
MYBPHL-
-
-
-
1Loss-
MYCBP-
-
-
-
1Loss-
MYCL-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYDGF-
-
-
-
3Gain-
MYEF2-
-
-
-
1Loss-
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH11p.K1856R
Missense
SNP
0.578
2--
MYH14-
-
-
-
1Loss-
MYH15-
-
-
-
4Gain-
MYH9-
-
-
-
3Gain-
MYL1-
-
-
-
1Loss-
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL3-
-
-
-
1Loss-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYLK-
-
-
-
4Gain-
MYLK3-
-
-
-
1Loss-
MYMK-
-
-
-
3Gain-
MYNN-
-
-
-
11Amp-
MYO10-
-
-
-
3Gain-
MYO16-
-
-
-
3Gain-
MYO18Bp.D186N
Missense
SNP
0.228
3Gain-
MYO1A-
-
-
-
3Gain-
MYO1E-
-
-
-
1Loss-
MYO1F-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO1H-
-
-
-
3Gain-
MYO3A-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
3Gain-
MYO5C-
-
-
-
1Loss-
MYO9B-
-
-
-
4Gain-
MYOCp.A339T
Missense
SNP
0.615
2--
MYOM1-
-
-
-
3Gain-
MYOM3-
-
-
-
1Loss-
MYORG-
-
-
-
5Amp-
MYOZ2-
-
-
-
1Loss-
MYRFL-
-
-
-
3Gain-
MYRIP-
-
-
-
1Loss-
MYSM1-
-
-
-
1Loss-
MYZAP-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA16p.F515S
Missense
SNP
1.000
2--
NAA20-
-
-
-
3Gain-
NAA25-
-
-
-
3Gain-
NAA35-
-
-
-
1Loss-
NAA50-
-
-
-
4Gain-
NAA80-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALAD2p.V105I
Missense
SNP
0.665
2--
NAALADL2-
-
-
-
4Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NACC1-
-
-
-
3Gain-
NACC2-
-
-
-
3Gain-
NADK-
-
-
-
1Loss-
NADK2-
-
-
-
3Gain-
NAE1-
-
-
-
1Loss-
NAF1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NAIF1-
-
-
-
3Gain-
NALCN-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NANOS3-
-
-
-
3Gain-
NANP-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAP1L5-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPG-
-
-
-
3Gain-
NAPSA-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NASP-
-
-
-
1Loss-
NAV3-
-
-
-
3Gain-
NAXD-
-
-
-
3Gain-
NBEAL1-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF19-
-
-
-
1Loss-
NBPF26-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NBPF9-
-
-
-
1Loss-
NCALD-
-
-
-
1Loss-
NCAN-
-
-
-
5Amp-
NCAPD2-
-
-
-
3Gain-
NCAPH2-
-
-
-
1Loss-
NCBP2-
-
-
-
4Gain-
NCBP2-AS2-
-
-
-
4Gain-
NCCRP1-
-
-
-
3Gain-
NCDN-
-
-
-
1Loss-
NCEH1-
-
-
-
8Amp-
NCF4-
-
-
-
3Gain-
NCK1-
-
-
-
4Gain-
NCKAP1L-
-
-
-
3Gain-
NCKAP5L-
-
-
-
3Gain-
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
1Loss-
NCLN-
-
-
-
3Gain-
NCMAP-
-
-
-
1Loss-
NCOA2-
-
-
-
1Loss-
NCOA3-
-
-
-
1Loss-
NCOA5-
-
-
-
1Loss-
NCOR2-
-
-
-
3Gain-
NCS1-
-
-
-
3Gain-
NDC1-
-
-
-
1Loss-
NDC80-
-
-
-
3Gain-
NDNF-
-
-
-
1Loss-
NDOR1-
-
-
-
3Gain-
NDRG4-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA11-
-
-
-
3Gain-
NDUFA12-
-
-
-
3Gain-
NDUFA13-
-
-
-
5Amp-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA6-
-
-
-
1Loss-
NDUFA7-
-
-
-
3Gain-
NDUFA8-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NDUFAF3-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
1Loss-
NDUFB2-
-
-
-
7Amp-
NDUFB4-
-
-
-
4Gain-
NDUFB5-
-
-
-
4Gain-
NDUFB6-
-
-
-
5Amp-
NDUFB7-
-
-
-
4Gain-
NDUFC1-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NDUFS5-
-
-
-
1Loss-
NDUFS6-
-
-
-
3Gain-
NDUFS7-
-
-
-
3Gain-
NDUFV2-
-
-
-
3Gain-
NEB-
-
-
-
3Gain-
NEBL-
-
-
-
1Loss-
NECAB2-
-
-
-
1Loss-
NECAP1-
-
-
-
3Gain-
NECAP2-
-
-
-
1Loss-
NECTIN3-
-
-
-
4Gain-
NEDD1-
-
-
-
3Gain-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEFHp.D113I
Missense
DNP
0.420
3Gain-
NEFMp.F189I
Missense
SNP
0.658
2--
NEGR1-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK11-
-
-
-
4Gain-
NEK4-
-
-
-
1Loss-
NEK6-
-
-
-
3Gain-
NELFB-
-
-
-
3Gain-
NELL2p.E843D
Missense
SNP
0.520
3Gain-
NEMP1-
-
-
-
3Gain-
NEPRO-
-
-
-
4Gain-
NET1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEURL2-
-
-
-
1Loss-
NEUROD4-
-
-
-
3Gain-
NEUROD6-
-
-
-
3Gain-
NEUROG2-
-
-
-
1Loss-
NEXN-
-
-
-
1Loss-
NF2-
-
-
-
3Gain-
NFAM1-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFE2-
-
-
-
3Gain-
NFE2L2p.G81C
Missense
SNP
0.489
2--
NFE2L3-
-
-
-
3Gain-
NFIA-
-
-
-
1Loss-
NFIB-
-
-
-
5Amp-
NFIC-
-
-
-
3Gain-
NFIX-
-
-
-
3Gain-
NFKB1-
-
-
-
1Loss-
NFKBIB-
-
-
-
3Gain-
NFKBIZ-
-
-
-
4Gain-
NFX1-
-
-
-
5Amp-
NFYB-
-
-
-
3Gain-
NFYC-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGF-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLH2-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NIF3L1-
-
-
-
1Loss-
NIM1K-
-
-
-
3Gain-
NINJ2-
-
-
-
3Gain-
NINL-
-
-
-
3Gain-
NIP7-
-
-
-
1Loss-
NIPAL2-
-
-
-
1Loss-
NIPAL3-
-
-
-
1Loss-
NIPBL-
-
-
-
3Gain-
NIPSNAP1-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NISCH-
-
-
-
1Loss-
NIT2-
-
-
-
4Gain-
NKAIN1-
-
-
-
1Loss-
NKAIN3-
-
-
-
1Loss-
NKD1-
-
-
-
1Loss-
NKD2-
-
-
-
3Gain-
NKG7-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX2-2-
-
-
-
3Gain-
NKX2-4-
-
-
-
3Gain-
NKX6-1-
-
-
-
1Loss-
NLGN1-
-
-
-
4Gain-
NLK-
-
-
-
6Amp-
NLRC5-
-
-
-
1Loss-
NLRP7p.K811N
Missense
SNP
0.294
2--
NLRP8p.G679V
Missense
SNP
0.716
2--
NMD3-
-
-
-
8Amp-
NME6-
-
-
-
1Loss-
NME8-
-
-
-
3Gain-
NME9-
-
-
-
4Gain-
NMI-
-
-
-
3Gain-
NMNAT1-
-
-
-
1Loss-
NMNAT3-
-
-
-
4Gain-
NMRK1-
-
-
-
1Loss-
NMRK2-
-
-
-
3Gain-
NMU-
-
-
-
3Gain-
NMUR1-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
9Amp-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
5Amp-
NOC2L-
-
-
-
1Loss-
NOC4L-
-
-
-
3Gain-
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
3Gain-
NOD2-
-
-
-
1Loss-
NOL12-
-
-
-
5Amp-
NOL3-
-
-
-
1Loss-
NOL4-
-
-
-
3Gain-
NOL6-
-
-
-
5Amp-
NOL9-
-
-
-
1Loss-
NOM1-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOP56-
-
-
-
3Gain-
NOP58-
-
-
-
1Loss-
NOS1-
-
-
-
3Gain-
NOS2-
-
-
-
6Amp-
NOS3-
-
-
-
3Gain-
NOSIP-
-
-
-
1Loss-
NOTCH1-
-
-
-
3Gain-
NOTCH2-
-
-
-
1Loss-
NOTCH3-
-
-
-
4Gain-
NOX3p.Y423*
Nonsense
SNP
0.286
2--
NOXA1-
-
-
-
3Gain-
NPBWR1-
-
-
-
1Loss-
NPC1-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPDC1-
-
-
-
3Gain-
NPFF-
-
-
-
3Gain-
NPFFR2-
-
-
-
1Loss-
NPHP3-
-
-
-
4Gain-
NPHP3-ACAD11-
-
-
-
4Gain-
NPHP4-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR2-
-
-
-
5Amp-
NPR3-
-
-
-
3Gain-
NPRL2-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTXR-
-
-
-
5Amp-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR0B2-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1H2-
-
-
-
1Loss-
NR1H4-
-
-
-
3Gain-
NR1I2-
-
-
-
4Gain-
NR2C1-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR2C2AP-
-
-
-
5Amp-
NR2F6-
-
-
-
4Gain-
NR3C2-
-
-
-
1Loss-
NR4A1-
-
-
-
3Gain-
NR4A2-
-
-
-
3Gain-
NR5A1-
-
-
-
3Gain-
NR6A1-
-
-
-
3Gain-
NRARP-
-
-
-
3Gain-
NRAS-
-
-
-
1Loss-
NRDC-
-
-
-
1Loss-
NRG3-
-
-
-
3Gain-
NRIP1-
-
-
-
1Loss-
NRIP2-
-
-
-
3Gain-
NRN1L-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRROS-
-
-
-
4Gain-
NRSN2-
-
-
-
3Gain-
NRTN-
-
-
-
3Gain-
NRXN3p.G27C
Missense
SNP
0.651
2--
NSF-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSMAF-
-
-
-
1Loss-
NSMF-
-
-
-
3Gain-
NSUN2-
-
-
-
3Gain-
NSUN3-
-
-
-
4Gain-
NSUN4-
-
-
-
1Loss-
NSUN6-
-
-
-
1Loss-
NT5C1A-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5DC2-
-
-
-
1Loss-
NT5DC3-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTF4-
-
-
-
1Loss-
NTMT1-
-
-
-
3Gain-
NTN4-
-
-
-
3Gain-
NTNG1-
-
-
-
1Loss-
NTNG2-
-
-
-
3Gain-
NTRK2-
-
-
-
1Loss-
NTS-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUCB1-
-
-
-
1Loss-
NUDC-
-
-
-
1Loss-
NUDCD1-
-
-
-
1Loss-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT16-
-
-
-
4Gain-
NUDT19-
-
-
-
3Gain-
NUDT2-
-
-
-
5Amp-
NUDT21-
-
-
-
1Loss-
NUDT4-
-
-
-
3Gain-
NUDT5-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUMBL-
-
-
-
3Gain-
NUP107-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP188-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
1Loss-
NUP214-
-
-
-
3Gain-
NUP37-
-
-
-
3Gain-
NUP50-
-
-
-
1Loss-
NUP54-
-
-
-
1Loss-
NUP62-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUTF2-
-
-
-
1Loss-
NWD1-
-
-
-
4Gain-
NXNL1-
-
-
-
4Gain-
NXPE3-
-
-
-
4Gain-
NXPH1-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NXT1-
-
-
-
3Gain-
NYAP2-
-
-
-
1Loss-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OAZ1-
-
-
-
3Gain-
OBP2A-
-
-
-
3Gain-
OBP2B-
-
-
-
3Gain-
OBSL1-
-
-
-
1Loss-
OCEL1-
-
-
-
4Gain-
OCM-
-
-
-
3Gain-
OCSTAMP-
-
-
-
1Loss-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF1-
-
-
-
1Loss-
ODF2-
-
-
-
3Gain-
ODF2L-
-
-
-
1Loss-
ODF3B-
-
-
-
1Loss-
ODF3L2-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OGFOD1-
-
-
-
1Loss-
OGFOD2-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OLFM1-
-
-
-
3Gain-
OLFM2-
-
-
-
3Gain-
OLFM3-
-
-
-
1Loss-
OLFML2A-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OLR1-
-
-
-
3Gain-
OMA1-
-
-
-
1Loss-
ONECUT1p.R361S
Missense
SNP
0.400
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
3Gain-
OPA1-
-
-
-
4Gain-
OPRD1-
-
-
-
1Loss-
OPRK1-
-
-
-
1Loss-
OPRPN-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10H1-
-
-
-
4Gain-
OR10H2-
-
-
-
4Gain-
OR10H3-
-
-
-
4Gain-
OR10H4-
-
-
-
4Gain-
OR10H5-
-
-
-
4Gain-
OR10P1-
-
-
-
3Gain-
OR10S1p.I47F
Missense
SNP
0.399
2--
OR13J1-
-
-
-
5Amp-
OR1B1-
-
-
-
3Gain-
OR1I1-
-
-
-
4Gain-
OR1J1-
-
-
-
3Gain-
OR1J2-
-
-
-
3Gain-
OR1J4-
-
-
-
3Gain-
OR1K1-
-
-
-
3Gain-
OR1L1-
-
-
-
3Gain-
OR1L3-
-
-
-
3Gain-
OR1L4-
-
-
-
3Gain-
OR1L6-
-
-
-
3Gain-
OR1L8-
-
-
-
3Gain-
OR1M1-
-
-
-
3Gain-
OR1N1-
-
-
-
3Gain-
OR1N2-
-
-
-
3Gain-
OR1Q1-
-
-
-
3Gain-
OR2A1-
-
-
-
5Amp-
OR2A12-
-
-
-
5Amp-
OR2A14-
-
-
-
5Amp-
OR2A2-
-
-
-
5Amp-
OR2A25-
-
-
-
5Amp-
OR2A42-
-
-
-
5Amp-
OR2A5-
-
-
-
5Amp-
OR2A7-
-
-
-
5Amp-
OR2AG1p.Y159H
Missense
SNP
0.687
2--
OR2AP1-
-
-
-
3Gain-
OR2F1-
-
-
-
5Amp-
OR2F2-
-
-
-
5Amp-
OR2G6p.T4N
Missense
SNP
0.250
2--
OR2S2-
-
-
-
5Amp-
OR2Z1-
-
-
-
3Gain-
OR4A16p.I306T
Missense
SNP
0.348
2--
OR4C15p.F309S
Missense
SNP
0.654
2--
OR4F15-
-
-
-
1Loss-
OR4F17-
-
-
-
3Gain-
OR4F4-
-
-
-
1Loss-
OR4F5-
-
-
-
1Loss-
OR4F6-
-
-
-
1Loss-
OR5AC2-
-
-
-
4Gain-
OR5BS1P-
-
-
-
3Gain-
OR5C1-
-
-
-
3Gain-
OR5D16p.M120I
Missense
SNP
0.573
2--
OR5H1-
-
-
-
4Gain-
OR5H14-
-
-
-
4Gain-
OR5H15-
-
-
-
4Gain-
OR5H2-
-
-
-
4Gain-
OR5H6-
-
-
-
4Gain-
OR5K1-
-
-
-
4Gain-
OR5K2-
-
-
-
4Gain-
OR5K3-
-
-
-
4Gain-
OR5K4-
-
-
-
4Gain-
OR5T1p.T90N
Missense
SNP
0.716
2--
OR6B1-
-
-
-
5Amp-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR6V1-
-
-
-
3Gain-
OR7A10-
-
-
-
4Gain-
OR7A17-
-
-
-
4Gain-
OR7A5-
-
-
-
4Gain-
OR7C1-
-
-
-
4Gain-
OR7C2-
-
-
-
4Gain-
OR7D2-
-
-
-
3Gain-
OR7D4-
-
-
-
3Gain-
OR7E24-
-
-
-
3Gain-
OR7E47P-
-
-
-
3Gain-
OR7G1-
-
-
-
3Gain-
OR7G2-
-
-
-
3Gain-
OR7G3-
-
-
-
3Gain-
OR8H2p.T195N
Missense
SNP
0.318
2--
OR8S1-
-
-
-
3Gain-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9I1p.L158V
Missense
SNP
0.346
2--
OR9K2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORC1-
-
-
-
1Loss-
ORC2-
-
-
-
1Loss-
ORC4-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBP2-
-
-
-
3Gain-
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
4Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSBPL9-
-
-
-
1Loss-
OSCP1-
-
-
-
1Loss-
OSER1-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSM-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OSR2-
-
-
-
1Loss-
OSTC-
-
-
-
1Loss-
OSTF1-
-
-
-
1Loss-
OSTN-
-
-
-
4Gain-
OTOGL-
-
-
-
3Gain-
OTOL1-
-
-
-
8Amp-
OTOP2p.T230M
Missense
SNP
0.225
2--
OTOR-
-
-
-
3Gain-
OTOS-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD3-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OVCH1p.D964Y
Missense
SNP
0.453
3Gain-
OVGP1-
-
-
-
1Loss-
OVOL2-
-
-
-
3Gain-
OXCT1-
-
-
-
3Gain-
OXCT2-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
1Loss-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXT-
-
-
-
3Gain-
OXTR-
-
-
-
1Loss-
P2RX2-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX6-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P2RY1-
-
-
-
4Gain-
P2RY11-
-
-
-
3Gain-
P2RY12-
-
-
-
4Gain-
P2RY13-
-
-
-
4Gain-
P2RY14-
-
-
-
4Gain-
P3H1-
-
-
-
1Loss-
P3H2-
-
-
-
4Gain-
P3H3-
-
-
-
3Gain-
P4HTM-
-
-
-
1Loss-
PA2G4-
-
-
-
3Gain-
PABPC1-
-
-
-
1Loss-
PABPC1L-
-
-
-
1Loss-
PABPC4-
-
-
-
1Loss-
PABPC4L-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACS2p.S805T
Missense
SNP
0.385
2--
PACSIN2-
-
-
-
1Loss-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAEP-
-
-
-
3Gain-
PAF1-
-
-
-
3Gain-
PAFAH1B3-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAG1-
-
-
-
1Loss-
PAH-
-
-
-
3Gain-
PAICS-
-
-
-
6Amp-
PAIP1-
-
-
-
3Gain-
PAK2-
-
-
-
4Gain-
PAK4-
-
-
-
3Gain-
PAK5-
-
-
-
3Gain-
PALLD-
-
-
-
1Loss-
PALM-
-
-
-
3Gain-
PALM3-
-
-
-
3Gain-
PALMD-
-
-
-
1Loss-
PAN2-
-
-
-
3Gain-
PANK2-
-
-
-
3Gain-
PANK4-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPSS1-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR7-
-
-
-
1Loss-
PAQR9-
-
-
-
4Gain-
PARD3-
-
-
-
1Loss-
PARD3B-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARD6B-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARL-
-
-
-
4Gain-
PARM1-
-
-
-
1Loss-
PARP11-
-
-
-
3Gain-
PARP12-
-
-
-
7Amp-
PARP14-
-
-
-
4Gain-
PARP15-
-
-
-
4Gain-
PARP3-
-
-
-
1Loss-
PARP9-
-
-
-
4Gain-
PARPBP-
-
-
-
3Gain-
PARS2-
-
-
-
1Loss-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PATJ-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PATZ1-
-
-
-
3Gain-
PAWR-
-
-
-
3Gain-
PAX1-
-
-
-
3Gain-
PAX3-
-
-
-
1Loss-
PAX4p.L177Q
Missense
SNP
0.481
2--
PAX5-
-
-
-
5Amp-
PAX7-
-
-
-
1Loss-
PAXIP1-
-
-
-
3Gain-
PAXX-
-
-
-
3Gain-
PBRM1-
-
-
-
1Loss-
PBX3-
-
-
-
3Gain-
PBX4-
-
-
-
4Gain-
PCBP2-
-
-
-
3Gain-
PCBP4-
-
-
-
1Loss-
PCCB-
-
-
-
4Gain-
PCDH10-
-
-
-
1Loss-
PCDH18-
-
-
-
1Loss-
PCDH7-
-
-
-
3Gain-
PCDH8p.A293S
Missense
SNP
1.000
2--
PCED1A-
-
-
-
3Gain-
PCED1B-
-
-
-
3Gain-
PCID2-
-
-
-
3Gain-
PCIF1-
-
-
-
1Loss-
PCLO-
-
-
-
3Gain-
PCMTD1-
-
-
-
1Loss-
PCNA-
-
-
-
3Gain-
PCNP-
-
-
-
4Gain-
PCOLCE2-
-
-
-
4Gain-
PCP2-
-
-
-
3Gain-
PCSK2p.R81S
Missense
SNP
0.437
3Gain-
PCSK4-
-
-
-
3Gain-
PCSK5-
-
-
-
1Loss-
PCSK6-
-
-
-
1Loss-
PCSK7p.V473M
Missense
SNP
0.358
2--
PCSK9-
-
-
-
1Loss-
PCYT1A-
-
-
-
4Gain-
PDCD1-
-
-
-
1Loss-
PDCD10-
-
-
-
11Amp-
PDCD1LG2-
-
-
-
5Amp-
PDCD5-
-
-
-
3Gain-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDCL-
-
-
-
3Gain-
PDCL2-
-
-
-
3Gain-
PDE12-
-
-
-
1Loss-
PDE1B-
-
-
-
3Gain-
PDE1C-
-
-
-
3Gain-
PDE3A-
-
-
-
3Gain-
PDE3Bp.P982T
Missense
SNP
0.282
2--
PDE4A-
-
-
-
3Gain-
PDE4B-
-
-
-
1Loss-
PDE4C-
-
-
-
5Amp-
PDE5A-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE6H-
-
-
-
3Gain-
PDE7A-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
1Loss-
PDGFC-
-
-
-
1Loss-
PDGFRA-
-
-
-
3Gain-
PDHA2-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA4-
-
-
-
5Amp-
PDIA5-
-
-
-
4Gain-
PDIK1L-
-
-
-
1Loss-
PDK1p.D31Y
Missense
SNP
0.673
2--
PDLIM3-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDP1-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDXP-
-
-
-
5Amp-
PDYN-
-
-
-
3Gain-
PDZD2-
-
-
-
3Gain-
PDZK1IP1-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PDZRN4-
-
-
-
3Gain-
PEAK3-
-
-
-
3Gain-
PEBP1-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PEF1-
-
-
-
1Loss-
PEG3-
-
-
-
1Loss-
PENK-
-
-
-
1Loss-
PEPD-
-
-
-
3Gain-
PER2-
-
-
-
1Loss-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PES1-
-
-
-
3Gain-
PET100-
-
-
-
3Gain-
PET117-
-
-
-
3Gain-
PEX10-
-
-
-
1Loss-
PEX11G-
-
-
-
3Gain-
PEX14-
-
-
-
1Loss-
PEX2-
-
-
-
1Loss-
PEX26-
-
-
-
3Gain-
PEX5-
-
-
-
3Gain-
PEX5L-
-
-
-
4Gain-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFDN5p.L12R
Missense
SNP
0.541
3Gain-
PFKFB3-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFKM-
-
-
-
3Gain-
PFKP-
-
-
-
1Loss-
PFN2-
-
-
-
4Gain-
PGAM2-
-
-
-
3Gain-
PGAM5-
-
-
-
3Gain-
PGAP1-
-
-
-
3Gain-
PGD-
-
-
-
1Loss-
PGLS-
-
-
-
4Gain-
PGLYRP2-
-
-
-
4Gain-
PGM1-
-
-
-
1Loss-
PGM5-
-
-
-
5Amp-
PGPEP1-
-
-
-
5Amp-
PGPEP1L-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PHACTR4-
-
-
-
1Loss-
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHC2-
-
-
-
1Loss-
PHC3-
-
-
-
11Amp-
PHETA1-
-
-
-
3Gain-
PHETA2-
-
-
-
1Loss-
PHF13-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF19-
-
-
-
3Gain-
PHF21B-
-
-
-
1Loss-
PHF24-
-
-
-
5Amp-
PHF5A-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHGDH-
-
-
-
1Loss-
PHKB-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDA1-
-
-
-
3Gain-
PHLDB2-
-
-
-
4Gain-
PHLDB3-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHPT1-
-
-
-
3Gain-
PHTF1-
-
-
-
1Loss-
PHYH-
-
-
-
1Loss-
PHYHD1-
-
-
-
3Gain-
PI15-
-
-
-
1Loss-
PI3-
-
-
-
1Loss-
PI4KA-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIAS2-
-
-
-
3Gain-
PIAS4-
-
-
-
3Gain-
PICK1-
-
-
-
5Amp-
PID1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIEZO2-
-
-
-
3Gain-
PIFO-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
5Amp-
PIGS-
-
-
-
6Amp-
PIGT-
-
-
-
1Loss-
PIGV-
-
-
-
1Loss-
PIGX-
-
-
-
4Gain-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
4Gain-
PIH1D1-
-
-
-
1Loss-
PIK3C2G-
-
-
-
3Gain-
PIK3C3-
-
-
-
3Gain-
PIK3CA-
-
-
-
4Gain-
PIK3CB-
-
-
-
4Gain-
PIK3CD-
-
-
-
1Loss-
PIK3IP1-
-
-
-
3Gain-
PIK3R2p.G443C
Missense
SNP
0.704
5Amp-
PIK3R3-
-
-
-
1Loss-
PIK3R4-
-
-
-
4Gain-
PIKFYVE-
-
-
-
1Loss-
PIM3-
-
-
-
1Loss-
PIN1-
-
-
-
3Gain-
PINK1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP4K2A-
-
-
-
1Loss-
PIP4K2C-
-
-
-
3Gain-
PIP5K1B-
-
-
-
5Amp-
PIP5K1C-
-
-
-
3Gain-
PIP5KL1-
-
-
-
3Gain-
PISD-
-
-
-
3Gain-
PITHD1-
-
-
-
1Loss-
PITPNB-
-
-
-
3Gain-
PITPNM2-
-
-
-
3Gain-
PITRM1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PIWIL1-
-
-
-
3Gain-
PIWIL3-
-
-
-
3Gain-
PKD1L1-
-
-
-
3Gain-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1L1-
-
-
-
1Loss-
PKIA-
-
-
-
1Loss-
PKIG-
-
-
-
1Loss-
PKN1-
-
-
-
3Gain-
PKN2-
-
-
-
1Loss-
PKN3-
-
-
-
3Gain-
PKP2-
-
-
-
3Gain-
PKP4-
-
-
-
3Gain-
PLA1A-
-
-
-
4Gain-
PLA2G12A-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G1B-
-
-
-
3Gain-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G3-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G5-
-
-
-
1Loss-
PLA2G6-
-
-
-
5Amp-
PLAA-
-
-
-
5Amp-
PLAC8-
-
-
-
1Loss-
PLAG1-
-
-
-
1Loss-
PLAUR-
-
-
-
1Loss-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCB1-
-
-
-
3Gain-
PLCB4-
-
-
-
3Gain-
PLCD1-
-
-
-
1Loss-
PLCD4-
-
-
-
1Loss-
PLCG1-
-
-
-
1Loss-
PLCG2-
-
-
-
1Loss-
PLCH1-
-
-
-
9Amp-
PLCH2-
-
-
-
1Loss-
PLCL1-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
4Gain-
PLCXD3-
-
-
-
3Gain-
PLCZ1-
-
-
-
3Gain-
PLD1-
-
-
-
8Amp-
PLD3-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHF1-
-
-
-
3Gain-
PLEKHF2-
-
-
-
1Loss-
PLEKHG2-
-
-
-
3Gain-
PLEKHG4-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
3Gain-
PLEKHG5-
-
-
-
1Loss-
PLEKHG6-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLEKHJ1-
-
-
-
3Gain-
PLEKHM2-
-
-
-
1Loss-
PLEKHM3-
-
-
-
1Loss-
PLEKHN1-
-
-
-
1Loss-
PLGRKT-
-
-
-
5Amp-
PLIN2-
-
-
-
5Amp-
PLIN3-
-
-
-
3Gain-
PLIN4-
-
-
-
3Gain-
PLIN5-
-
-
-
3Gain-
PLK3-
-
-
-
1Loss-
PLK4-
-
-
-
1Loss-
PLK5-
-
-
-
3Gain-
PLLP-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLOD2-
-
-
-
4Gain-
PLPP2-
-
-
-
3Gain-
PLPP3-
-
-
-
1Loss-
PLPP6-
-
-
-
5Amp-
PLPP7-
-
-
-
3Gain-
PLPPR2-
-
-
-
3Gain-
PLPPR3-
-
-
-
3Gain-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLS1-
-
-
-
4Gain-
PLSCR1-
-
-
-
4Gain-
PLSCR2-
-
-
-
4Gain-
PLSCR4-
-
-
-
4Gain-
PLSCR5-
-
-
-
4Gain-
PLTP-
-
-
-
1Loss-
PLVAP-
-
-
-
4Gain-
PLXDC2-
-
-
-
1Loss-
PLXNA1-
-
-
-
4Gain-
PLXNB1-
-
-
-
1Loss-
PLXNC1-
-
-
-
3Gain-
PLXND1-
-
-
-
4Gain-
PMAIP1-
-
-
-
1Loss-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMM1-
-
-
-
1Loss-
PMP2-
-
-
-
1Loss-
PMPCA-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNKD-
-
-
-
1Loss-
PNKP-
-
-
-
1Loss-
PNPLA1p.E276K
Missense
SNP
0.641
2--
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA6-
-
-
-
3Gain-
PNPLA7-
-
-
-
3Gain-
PNRC2-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODN-
-
-
-
1Loss-
PODNL1-
-
-
-
3Gain-
PODXL2-
-
-
-
4Gain-
POGLUT1-
-
-
-
4Gain-
POLD1-
-
-
-
1Loss-
POLD2-
-
-
-
3Gain-
POLDIP2-
-
-
-
6Amp-
POLDIP3-
-
-
-
1Loss-
POLE-
-
-
-
3Gain-
POLI-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLQ-
-
-
-
4Gain-
POLR1E-
-
-
-
5Amp-
POLR2B-
-
-
-
9Amp-
POLR2C-
-
-
-
1Loss-
POLR2E-
-
-
-
3Gain-
POLR2F-
-
-
-
5Amp-
POLR2H-
-
-
-
4Gain-
POLR2K-
-
-
-
1Loss-
POLR2M-
-
-
-
1Loss-
POLR3B-
-
-
-
3Gain-
POLR3F-
-
-
-
3Gain-
POLR3H-
-
-
-
1Loss-
POLRMTp.L593Q
Missense
SNP
0.522
3Gain-
POM121L12-
-
-
-
3Gain-
POM121L2p.P453L
Missense
SNP
0.657
2--
POMGNT1-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMT1-
-
-
-
3Gain-
POP1-
-
-
-
1Loss-
POP4p.*221Sext*57
Nonstop
SNP
0.487
3Gain-
POP5-
-
-
-
3Gain-
POPDC2-
-
-
-
4Gain-
POTEC-
-
-
-
3Gain-
POTED-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU2F2-
-
-
-
1Loss-
POU3F1-
-
-
-
1Loss-
POU4F2-
-
-
-
1Loss-
POU6F1-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPAN-
-
-
-
3Gain-
PPAN-P2RY11-
-
-
-
3Gain-
PPARA-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPAT-
-
-
-
6Amp-
PPBP-
-
-
-
1Loss-
PPCS-
-
-
-
1Loss-
PPDPFL-
-
-
-
1Loss-
PPEF2-
-
-
-
1Loss-
PPFIA2-
-
-
-
3Gain-
PPFIA3-
-
-
-
1Loss-
PPFIBP1-
-
-
-
3Gain-
PPHLN1-
-
-
-
3Gain-
PPIA-
-
-
-
3Gain-
PPID-
-
-
-
1Loss-
PPIE-
-
-
-
1Loss-
PPIH-
-
-
-
1Loss-
PPIL2-
-
-
-
3Gain-
PPIL3-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPM1F-
-
-
-
3Gain-
PPM1H-
-
-
-
3Gain-
PPM1J-
-
-
-
1Loss-
PPM1K-
-
-
-
1Loss-
PPM1L-
-
-
-
8Amp-
PPM1M-
-
-
-
1Loss-
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R14A-
-
-
-
3Gain-
PPP1R15A-
-
-
-
1Loss-
PPP1R16B-
-
-
-
1Loss-
PPP1R17-
-
-
-
3Gain-
PPP1R1A-
-
-
-
3Gain-
PPP1R2-
-
-
-
4Gain-
PPP1R26-
-
-
-
3Gain-
PPP1R42-
-
-
-
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP1R8-
-
-
-
1Loss-
PPP2R1A-
-
-
-
1Loss-
PPP2R3A-
-
-
-
4Gain-
PPP3CA-
-
-
-
1Loss-
PPP4R1-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP4R4p.P639S
Missense
SNP
0.290
2--
PPP6C-
-
-
-
3Gain-
PPP6R2-
-
-
-
1Loss-
PPT1-
-
-
-
1Loss-
PPTC7-
-
-
-
3Gain-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PQLC2L-
-
-
-
8Amp-
PRAM1-
-
-
-
3Gain-
PRAME-
-
-
-
3Gain-
PRAMEF1-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRDM12-
-
-
-
3Gain-
PRDM14-
-
-
-
1Loss-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM4-
-
-
-
3Gain-
PRDM5-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9p.S412Y
Missense
SNP
0.561
3Gain-
PRDX1-
-
-
-
1Loss-
PRDX2-
-
-
-
3Gain-
PRELID3A-
-
-
-
3Gain-
PREX1-
-
-
-
1Loss-
PREX2p.L1051M
Missense
SNP
0.386
1Loss-
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE1-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRIM1-
-
-
-
3Gain-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKAA2-
-
-
-
1Loss-
PRKAB1-
-
-
-
3Gain-
PRKACA-
-
-
-
3Gain-
PRKACB-
-
-
-
1Loss-
PRKACG-
-
-
-
5Amp-
PRKAG1-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAG3-
-
-
-
1Loss-
PRKAR1B-
-
-
-
3Gain-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCI-
-
-
-
11Amp-
PRKCQ-
-
-
-
1Loss-
PRKCSH-
-
-
-
3Gain-
PRKCZ-
-
-
-
1Loss-
PRKDC-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRLH-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRMT1-
-
-
-
1Loss-
PRMT6-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRMT8-
-
-
-
3Gain-
PRMT9-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROK1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROKR2-
-
-
-
3Gain-
PROS1-
-
-
-
4Gain-
PROSER2-
-
-
-
1Loss-
PROZ-
-
-
-
3Gain-
PRPF18-
-
-
-
1Loss-
PRPF38A-
-
-
-
1Loss-
PRPF38B-
-
-
-
1Loss-
PRPF40A-
-
-
-
3Gain-
PRPF40B-
-
-
-
3Gain-
PRPH-
-
-
-
3Gain-
PRPS1L1-
-
-
-
3Gain-
PRR12-
-
-
-
1Loss-
PRR13-
-
-
-
3Gain-
PRR14L-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR19-
-
-
-
1Loss-
PRR22-
-
-
-
3Gain-
PRR23A-
-
-
-
4Gain-
PRR23B-
-
-
-
4Gain-
PRR23C-
-
-
-
4Gain-
PRR26-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR36-
-
-
-
3Gain-
PRR4-
-
-
-
3Gain-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRRC2B-
-
-
-
3Gain-
PRRG2-
-
-
-
1Loss-
PRRT1B-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRRX2-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS12-
-
-
-
1Loss-
PRSS2-
-
-
-
3Gain-
PRSS3-
-
-
-
5Amp-
PRSS37-
-
-
-
3Gain-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRSS57-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PRTFDC1-
-
-
-
1Loss-
PRTG-
-
-
-
1Loss-
PRTN3-
-
-
-
3Gain-
PRUNE2-
-
-
-
1Loss-
PRX-
-
-
-
3Gain-
PRXL2B-
-
-
-
1Loss-
PSAT1-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSIP1-
-
-
-
5Amp-
PSKH1-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMA5-
-
-
-
1Loss-
PSMA8-
-
-
-
3Gain-
PSMB10-
-
-
-
1Loss-
PSMB2-
-
-
-
1Loss-
PSMB7-
-
-
-
3Gain-
PSMC4-
-
-
-
3Gain-
PSMD1-
-
-
-
1Loss-
PSMD2-
-
-
-
4Gain-
PSMD5-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PSMD8-
-
-
-
3Gain-
PSMD9-
-
-
-
3Gain-
PSMF1-
-
-
-
3Gain-
PSMG2-
-
-
-
3Gain-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSPN-
-
-
-
3Gain-
PSRC1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
3Gain-
PTAFR-
-
-
-
1Loss-
PTAR1-
-
-
-
5Amp-
PTBP1-
-
-
-
3Gain-
PTBP2-
-
-
-
1Loss-
PTCH2-
-
-
-
1Loss-
PTCHD3-
-
-
-
1Loss-
PTDSS1-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGDS-
-
-
-
3Gain-
PTGER1-
-
-
-
3Gain-
PTGER3-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGES-
-
-
-
3Gain-
PTGES2-
-
-
-
3Gain-
PTGES3-
-
-
-
3Gain-
PTGFR-
-
-
-
1Loss-
PTGFRN-
-
-
-
1Loss-
PTGIS-
-
-
-
1Loss-
PTGS1-
-
-
-
3Gain-
PTH1R-
-
-
-
1Loss-
PTH2-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTHLH-
-
-
-
3Gain-
PTMA-
-
-
-
1Loss-
PTMS-
-
-
-
3Gain-
PTN-
-
-
-
5Amp-
PTOV1-
-
-
-
1Loss-
PTP4A2-
-
-
-
1Loss-
PTPA-
-
-
-
3Gain-
PTPN1-
-
-
-
1Loss-
PTPN11-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN2-
-
-
-
3Gain-
PTPN22-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN4p.T694S
Missense
SNP
0.194
2--
PTPN6-
-
-
-
3Gain-
PTPRA-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRD-
-
-
-
5Amp-
PTPRF-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRM-
-
-
-
3Gain-
PTPRN-
-
-
-
1Loss-
PTPRN2-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRS-
-
-
-
3Gain-
PTPRT-
-
-
-
1Loss-
PTPRU-
-
-
-
1Loss-
PTRH1-
-
-
-
3Gain-
PTX3-
-
-
-
8Amp-
PUM1-
-
-
-
1Loss-
PUM3-
-
-
-
5Amp-
PURB-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PUSL1-
-
-
-
1Loss-
PVALB-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PXDNL-
-
-
-
1Loss-
PXK-
-
-
-
1Loss-
PXMP2-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PXYLP1-
-
-
-
4Gain-
PYDC2-
-
-
-
4Gain-
PYGB-
-
-
-
3Gain-
PYGO1-
-
-
-
1Loss-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PYURF-
-
-
-
1Loss-
PZP-
-
-
-
3Gain-
QARS-
-
-
-
1Loss-
QRFP-
-
-
-
3Gain-
QRFPR-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QSOX2-
-
-
-
3Gain-
QTRT1-
-
-
-
3Gain-
QTRT2-
-
-
-
4Gain-
R3HDM2-
-
-
-
3Gain-
R3HDM4-
-
-
-
3Gain-
R3HDML-
-
-
-
1Loss-
RAB11B-
-
-
-
3Gain-
RAB12-
-
-
-
3Gain-
RAB14-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB19-
-
-
-
7Amp-
RAB20-
-
-
-
3Gain-
RAB21-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB2A-
-
-
-
1Loss-
RAB31-
-
-
-
3Gain-
RAB33B-
-
-
-
1Loss-
RAB35-
-
-
-
3Gain-
RAB36-
-
-
-
3Gain-
RAB3A-
-
-
-
5Amp-
RAB3B-
-
-
-
1Loss-
RAB3D-
-
-
-
3Gain-
RAB3GAP2p.R496W
Missense
SNP
0.308
2--
RAB3IP-
-
-
-
3Gain-
RAB42-
-
-
-
1Loss-
RAB43-
-
-
-
4Gain-
RAB4B-
-
-
-
3Gain-
RAB4B-EGLN2-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB5B-
-
-
-
3Gain-
RAB6B-
-
-
-
4Gain-
RAB7A-
-
-
-
4Gain-
RAB8A-
-
-
-
4Gain-
RAB8B-
-
-
-
1Loss-
RABAC1-
-
-
-
1Loss-
RABEP2p.R541W
Missense
SNP
0.681
2--
RABEPK-
-
-
-
3Gain-
RABGAP1-
-
-
-
3Gain-
RABGGTB-
-
-
-
1Loss-
RABL2B-
-
-
-
1Loss-
RABL3-
-
-
-
4Gain-
RABL6-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
5Amp-
RACGAP1-
-
-
-
3Gain-
RAD1-
-
-
-
3Gain-
RAD18-
-
-
-
1Loss-
RAD21L1-
-
-
-
3Gain-
RAD23A-
-
-
-
3Gain-
RAD51AP1-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD54B-
-
-
-
1Loss-
RAD54L-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RAD9B-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RAF1-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RALBP1-
-
-
-
3Gain-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
1Loss-
RALGDS-
-
-
-
3Gain-
RALGPS1-
-
-
-
3Gain-
RALYL-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RAMP3-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RANBP1-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANBP3-
-
-
-
3Gain-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
5Amp-
RANGAP1-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1B-
-
-
-
3Gain-
RAP1GAP-
-
-
-
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAP2B-
-
-
-
4Gain-
RAPGEF1-
-
-
-
3Gain-
RAPGEF2-
-
-
-
1Loss-
RAPGEF3-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RAPH1-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARG-
-
-
-
3Gain-
RARRES1-
-
-
-
8Amp-
RARRES2-
-
-
-
3Gain-
RASA2-
-
-
-
4Gain-
RASA3-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASAL3-
-
-
-
4Gain-
RASD2-
-
-
-
3Gain-
RASEF-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGRP4-
-
-
-
3Gain-
RASL10A-
-
-
-
3Gain-
RASL11B-
-
-
-
3Gain-
RASSF1-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF6-
-
-
-
1Loss-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RAVER1-
-
-
-
3Gain-
RAVER2-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
3Gain-
RB1CC1-
-
-
-
1Loss-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
1Loss-
RBBP8-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX1p.P91H
Missense
SNP
0.306
2--
RBFOX2-
-
-
-
3Gain-
RBL2-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM12B-
-
-
-
1Loss-
RBM15-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
1Loss-
RBM18-
-
-
-
3Gain-
RBM19-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM43-
-
-
-
3Gain-
RBM44-
-
-
-
1Loss-
RBM46-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS2-
-
-
-
3Gain-
RBMS3-
-
-
-
1Loss-
RBMXL1-
-
-
-
1Loss-
RBP1-
-
-
-
4Gain-
RBP2-
-
-
-
4Gain-
RBP5-
-
-
-
3Gain-
RBP7-
-
-
-
1Loss-
RBPJL-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RC3H2-
-
-
-
3Gain-
RCAN3-
-
-
-
1Loss-
RCC1-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCL1-
-
-
-
5Amp-
RCN3-
-
-
-
1Loss-
RDH10-
-
-
-
1Loss-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RDH8-
-
-
-
3Gain-
RECK-
-
-
-
5Amp-
RECQL-
-
-
-
3Gain-
REELD1-
-
-
-
1Loss-
REEP6-
-
-
-
3Gain-
REG4-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
REP15-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
RER1-
-
-
-
1Loss-
RERE-
-
-
-
1Loss-
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RESP18-
-
-
-
1Loss-
REST-
-
-
-
9Amp-
RETN-
-
-
-
3Gain-
RETNLB-
-
-
-
4Gain-
RETREG1-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
REX1BD-
-
-
-
5Amp-
REXO1-
-
-
-
3Gain-
REXO4-
-
-
-
3Gain-
RFC4-
-
-
-
4Gain-
RFC5-
-
-
-
3Gain-
RFK-
-
-
-
1Loss-
RFLNA-
-
-
-
3Gain-
RFPL1-
-
-
-
3Gain-
RFPL2-
-
-
-
3Gain-
RFPL3-
-
-
-
3Gain-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFTN2-
-
-
-
3Gain-
RFWD3-
-
-
-
1Loss-
RFX1-
-
-
-
3Gain-
RFX2-
-
-
-
3Gain-
RFX3-
-
-
-
5Amp-
RFX4-
-
-
-
3Gain-
RFX7-
-
-
-
1Loss-
RFXANK-
-
-
-
5Amp-
RGL3-
-
-
-
3Gain-
RGL4-
-
-
-
3Gain-
RGP1-
-
-
-
5Amp-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS20p.R148M
Missense
SNP
0.341
1Loss-
RGS22-
-
-
-
1Loss-
RGS9BP-
-
-
-
3Gain-
RGSL1p.G100R
Missense
SNP
0.721
2--
RHBDD1-
-
-
-
1Loss-
RHBDD3-
-
-
-
3Gain-
RHBDL2-
-
-
-
1Loss-
RHCE-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHEB-
-
-
-
3Gain-
RHEBL1-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHO-
-
-
-
4Gain-
RHOA-
-
-
-
1Loss-
RHOC-
-
-
-
1Loss-
RHOF-
-
-
-
3Gain-
RHOHp.V45F
Missense
SNP
0.361
2--
RHPN2-
-
-
-
3Gain-
RIBC2-
-
-
-
1Loss-
RIC1-
-
-
-
5Amp-
RIC8B-
-
-
-
3Gain-
RICTOR-
-
-
-
3Gain-
RIDA-
-
-
-
1Loss-
RIF1-
-
-
-
3Gain-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLA-
-
-
-
1Loss-
RIMKLB-
-
-
-
3Gain-
RIMS1p.G199S
p.D1417N
Missense
Missense
SNP
SNP
0.303
0.669
2--
RIMS2-
-
-
-
1Loss-
RIMS3-
-
-
-
1Loss-
RIMS4-
-
-
-
1Loss-
RIN2-
-
-
-
3Gain-
RIN3p.S637R
Missense
SNP
0.629
2--
RINL-
-
-
-
3Gain-
RIOK3-
-
-
-
3Gain-
RIOX2-
-
-
-
4Gain-
RIPOR1-
-
-
-
1Loss-
RIPOR3-
-
-
-
1Loss-
RIT2-
-
-
-
3Gain-
RITA1-
-
-
-
3Gain-
RLF-
-
-
-
1Loss-
RLN1-
-
-
-
5Amp-
RLN2-
-
-
-
5Amp-
RLN3-
-
-
-
3Gain-
RMC1-
-
-
-
3Gain-
RMI1-
-
-
-
1Loss-
RNASEH2A-
-
-
-
3Gain-
RNASET2p.M39I
Missense
SNP
0.240
2--
RND1-
-
-
-
3Gain-
RND3-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF11-
-
-
-
1Loss-
RNF111-
-
-
-
1Loss-
RNF114-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
3Gain-
RNF126-
-
-
-
3Gain-
RNF13-
-
-
-
4Gain-
RNF138-
-
-
-
3Gain-
RNF150-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
3Gain-
RNF166-
-
-
-
1Loss-
RNF168-
-
-
-
4Gain-
RNF175-
-
-
-
1Loss-
RNF185-
-
-
-
3Gain-
RNF186-
-
-
-
1Loss-
RNF19A-
-
-
-
1Loss-
RNF19B-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNF208-
-
-
-
3Gain-
RNF215-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF220-
-
-
-
1Loss-
RNF223-
-
-
-
1Loss-
RNF224-
-
-
-
3Gain-
RNF24-
-
-
-
3Gain-
RNF25-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
3Gain-
RNF38-
-
-
-
5Amp-
RNF41-
-
-
-
3Gain-
RNF7-
-
-
-
4Gain-
RNFT2-
-
-
-
3Gain-
RNMT-
-
-
-
3Gain-
RNPC3-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROPN1-
-
-
-
4Gain-
ROPN1B-
-
-
-
4Gain-
ROPN1L-
-
-
-
3Gain-
ROR1-
-
-
-
1Loss-
RORA-
-
-
-
1Loss-
RORB-
-
-
-
1Loss-
RP1-
-
-
-
1Loss-
RP9-
-
-
-
3Gain-
RPA2-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAP1p.S1141N
Missense
SNP
0.274
2--
RPAP2-
-
-
-
1Loss-
RPAP3-
-
-
-
3Gain-
RPE-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPGRIP1Lp.R56H
Missense
SNP
0.511
1Loss-
RPH3A-
-
-
-
3Gain-
RPL11-
-
-
-
1Loss-
RPL12-
-
-
-
3Gain-
RPL13-
-
-
-
1Loss-
RPL13A-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL18A-
-
-
-
4Gain-
RPL22-
-
-
-
1Loss-
RPL22L1-
-
-
-
11Amp-
RPL24-
-
-
-
4Gain-
RPL29-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL30-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL35-
-
-
-
3Gain-
RPL35A-
-
-
-
4Gain-
RPL36-
-
-
-
3Gain-
RPL37-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPL39L-
-
-
-
4Gain-
RPL41-
-
-
-
3Gain-
RPL5-
-
-
-
1Loss-
RPL6-
-
-
-
3Gain-
RPL7-
-
-
-
1Loss-
RPL7A-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPN1-
-
-
-
4Gain-
RPP14-
-
-
-
1Loss-
RPP25L-
-
-
-
5Amp-
RPRD1A-
-
-
-
3Gain-
RPRD1B-
-
-
-
1Loss-
RPRM-
-
-
-
3Gain-
RPS11-
-
-
-
1Loss-
RPS15-
-
-
-
3Gain-
RPS16-
-
-
-
3Gain-
RPS19BP1-
-
-
-
1Loss-
RPS20-
-
-
-
1Loss-
RPS26-
-
-
-
3Gain-
RPS27L-
-
-
-
1Loss-
RPS28-
-
-
-
3Gain-
RPS3A-
-
-
-
1Loss-
RPS6-
-
-
-
5Amp-
RPS6KA1-
-
-
-
1Loss-
RPS6KA2p.G55A
Missense
SNP
0.560
2--
RPS8-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
5Amp-
RRAGC-
-
-
-
1Loss-
RRAS-
-
-
-
1Loss-
RRBP1-
-
-
-
3Gain-
RRH-
-
-
-
1Loss-
RRM2B-
-
-
-
1Loss-
RRP7A-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
1Loss-
RSBN1-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSL24D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
3Gain-
RSPO1-
-
-
-
1Loss-
RSPO2-
-
-
-
1Loss-
RSPO4-
-
-
-
3Gain-
RSPRY1-
-
-
-
1Loss-
RSRC1-
-
-
-
8Amp-
RSRC2-
-
-
-
3Gain-
RSRP1-
-
-
-
1Loss-
RTBDN-
-
-
-
3Gain-
RTCA-
-
-
-
1Loss-
RTCB-
-
-
-
3Gain-
RTL10-
-
-
-
3Gain-
RTL6-
-
-
-
1Loss-
RTN4R-
-
-
-
3Gain-
RTP1-
-
-
-
4Gain-
RTP2-
-
-
-
4Gain-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
4Gain-
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
4Gain-
RUFY3-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RUNX1T1-
-
-
-
1Loss-
RUNX3-
-
-
-
1Loss-
RUSC2-
-
-
-
5Amp-
RUVBL1-
-
-
-
4Gain-
RUVBL2-
-
-
-
1Loss-
RWDD3-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP3-
-
-
-
3Gain-
RXRA-
-
-
-
3Gain-
RXYLT1-
-
-
-
3Gain-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
4Gain-
RYR1-
-
-
-
3Gain-
RYR3p.D2257Y
Missense
SNP
0.297
2--
S100PBP-
-
-
-
1Loss-
S1PR1-
-
-
-
1Loss-
S1PR2-
-
-
-
3Gain-
S1PR4-
-
-
-
3Gain-
S1PR5-
-
-
-
3Gain-
SACM1L-
-
-
-
1Loss-
SAFB-
-
-
-
3Gain-
SAFB2-
-
-
-
3Gain-
SAG-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SALL4-
-
-
-
1Loss-
SAMD1-
-
-
-
3Gain-
SAMD11-
-
-
-
1Loss-
SAMD13-
-
-
-
1Loss-
SAMD4B-
-
-
-
3Gain-
SAMD7-
-
-
-
11Amp-
SAMM50-
-
-
-
1Loss-
SAMSN1-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SAPCD2-
-
-
-
3Gain-
SARDH-
-
-
-
3Gain-
SARM1-
-
-
-
6Amp-
SARNP-
-
-
-
3Gain-
SARS-
-
-
-
1Loss-
SARS2-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SASS6-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SAXO1-
-
-
-
5Amp-
SBF1-
-
-
-
1Loss-
SBNO1-
-
-
-
3Gain-
SBNO2-
-
-
-
3Gain-
SBSPON-
-
-
-
1Loss-
SCAF1-
-
-
-
1Loss-
SCAF11-
-
-
-
3Gain-
SCAI-
-
-
-
3Gain-
SCAMP4-
-
-
-
3Gain-
SCAP-
-
-
-
1Loss-
SCARB1-
-
-
-
3Gain-
SCARB2-
-
-
-
1Loss-
SCARF2-
-
-
-
3Gain-
SCD5-
-
-
-
1Loss-
SCFD2-
-
-
-
3Gain-
SCG2-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCHIP1-
-
-
-
8Amp-
SCIN-
-
-
-
3Gain-
SCLT1-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCMH1-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11Ap.M1560K
Missense
SNP
1.000
1Loss-
SCN5A-
-
-
-
1Loss-
SCN8A-
-
-
-
3Gain-
SCN9Ap.V1613I
Missense
DNP
0.528
2--
SCNN1A-
-
-
-
3Gain-
SCNN1D-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCOC-
-
-
-
1Loss-
SCP2-
-
-
-
1Loss-
SCP2D1-
-
-
-
3Gain-
SCRG1-
-
-
-
1Loss-
SCRN1-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCUBE1-
-
-
-
1Loss-
SCYL2-
-
-
-
3Gain-
SDAD1-
-
-
-
1Loss-
SDC2-
-
-
-
1Loss-
SDC3-
-
-
-
1Loss-
SDC4-
-
-
-
1Loss-
SDCBP-
-
-
-
1Loss-
SDCBP2-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDF4-
-
-
-
1Loss-
SDHA-
-
-
-
3Gain-
SDHB-
-
-
-
1Loss-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEBOX-
-
-
-
6Amp-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC14L2-
-
-
-
3Gain-
SEC14L3-
-
-
-
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L6-
-
-
-
3Gain-
SEC16A-
-
-
-
3Gain-
SEC22A-
-
-
-
4Gain-
SEC22B-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23B-
-
-
-
3Gain-
SEC24B-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC61A1-
-
-
-
4Gain-
SEC61A2-
-
-
-
1Loss-
SEC61G-
-
-
-
3Gain-
SEC62-
-
-
-
11Amp-
SECISBP2L-
-
-
-
1Loss-
SEH1L-
-
-
-
3Gain-
SEL1L2-
-
-
-
3Gain-
SELENOF-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENOM-
-
-
-
3Gain-
SELENON-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SELENOP-
-
-
-
3Gain-
SELENOS-
-
-
-
1Loss-
SELENOT-
-
-
-
4Gain-
SELENOV-
-
-
-
3Gain-
SELPLG-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4B-
-
-
-
2-SEMA4B--IDH2-DT
SEMA5A-
-
-
-
3Gain-
SEMA5B-
-
-
-
4Gain-
SEMA6B-
-
-
-
3Gain-
SEMA6D-
-
-
-
1Loss-
SEMG1-
-
-
-
1Loss-
SEMG2-
-
-
-
1Loss-
SENP1-
-
-
-
3Gain-
SENP2-
-
-
-
4Gain-
SENP5-
-
-
-
4Gain-
SENP7-
-
-
-
4Gain-
SEPHS1-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT2-
-
-
-
1Loss-
SEPT3-
-
-
-
1Loss-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SERBP1-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERHL2-
-
-
-
1Loss-
SERINC2-
-
-
-
1Loss-
SERINC3-
-
-
-
1Loss-
SERINC4-
-
-
-
1Loss-
SERP1-
-
-
-
4Gain-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPIND1-
-
-
-
3Gain-
SERPINE2-
-
-
-
1Loss-
SERPINI1-
-
-
-
11Amp-
SERPINI2-
-
-
-
11Amp-
SERTAD1-
-
-
-
3Gain-
SERTAD3-
-
-
-
3Gain-
SESN2-
-
-
-
1Loss-
SET-
-
-
-
3Gain-
SETBP1-
-
-
-
5Amp-
SETD1B-
-
-
-
3Gain-
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETMAR-
-
-
-
0Del-
SETX-
-
-
-
3Gain-
SEZ6L-
-
-
-
3Gain-
SF3A1-
-
-
-
3Gain-
SF3A2-
-
-
-
3Gain-
SF3A3-
-
-
-
1Loss-
SF3B1-
-
-
-
3Gain-
SF3B3-
-
-
-
1Loss-
SFI1-
-
-
-
3Gain-
SFMBT1-
-
-
-
1Loss-
SFMBT2-
-
-
-
1Loss-
SFN-
-
-
-
1Loss-
SFPQ-
-
-
-
1Loss-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFSWAP-
-
-
-
3Gain-
SGCB-
-
-
-
3Gain-
SGIP1-
-
-
-
1Loss-
SGK2-
-
-
-
1Loss-
SGK3-
-
-
-
1Loss-
SGK494-
-
-
-
6Amp-
SGMS2-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSM1-
-
-
-
3Gain-
SGSM3-
-
-
-
1Loss-
SGTA-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH2D3A-
-
-
-
3Gain-
SH2D3C-
-
-
-
3Gain-
SH2D5-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3BP1-
-
-
-
5Amp-
SH3BP4-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3D19-
-
-
-
1Loss-
SH3D21-
-
-
-
1Loss-
SH3GL2-
-
-
-
5Amp-
SH3GLB1-
-
-
-
1Loss-
SH3GLB2-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
2-MXI1--SH3PXD2A
SH3PXD2A--BTRC
SH3RF1-
-
-
-
1Loss-
SHANK1-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHB-
-
-
-
5Amp-
SHC2-
-
-
-
3Gain-
SHC4p.R456P
Missense
SNP
0.339
1Loss-
SHCBP1-
-
-
-
1Loss-
SHD-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA8-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SHISAL2A-
-
-
-
1Loss-
SHKBP1-
-
-
-
3Gain-
SHLD1-
-
-
-
3Gain-
SHMT2-
-
-
-
3Gain-
SHOX2-
-
-
-
8Amp-
SHQ1-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SI-
-
-
-
8Amp-
SIAH1-
-
-
-
1Loss-
SIAH2-
-
-
-
4Gain-
SIDT1-
-
-
-
4Gain-
SIGLEC1-
-
-
-
3Gain-
SIGLEC10-
-
-
-
1Loss-
SIGLEC11-
-
-
-
1Loss-
SIGLEC12-
-
-
-
1Loss-
SIGLEC14-
-
-
-
1Loss-
SIGLEC15-
-
-
-
3Gain-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIGMAR1-
-
-
-
5Amp-
SIKE1-
-
-
-
1Loss-
SIN3B-
-
-
-
4Gain-
SINHCAF-
-
-
-
3Gain-
SIPA1L3-
-
-
-
3Gain-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT2-
-
-
-
3Gain-
SIRT4-
-
-
-
3Gain-
SIRT6-
-
-
-
3Gain-
SIT1-
-
-
-
5Amp-
SKA1-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKI-
-
-
-
1Loss-
SKIDA1-
-
-
-
1Loss-
SKIL-
-
-
-
11Amp-
SKOR2-
-
-
-
3Gain-
SKP2-
-
-
-
3Gain-
SLC10A2-
-
-
-
3Gain-
SLC10A5-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC11A2-
-
-
-
3Gain-
SLC12A1-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A5-
-
-
-
1Loss-
SLC12A7-
-
-
-
3Gain-
SLC12A8-
-
-
-
4Gain-
SLC13A1p.P575R
Missense
SNP
0.518
2--
SLC13A2-
-
-
-
6Amp-
SLC13A3-
-
-
-
1Loss-
SLC13A4-
-
-
-
3Gain-
SLC14A1-
-
-
-
5Amp-
SLC14A2-
-
-
-
5Amp-
SLC15A2-
-
-
-
4Gain-
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A1-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A4-
-
-
-
1Loss-
SLC16A7-
-
-
-
3Gain-
SLC16A8-
-
-
-
5Amp-
SLC17A7-
-
-
-
1Loss-
SLC17A8-
-
-
-
3Gain-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
5Amp-
SLC1A3-
-
-
-
3Gain-
SLC1A6-
-
-
-
4Gain-
SLC1A7-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A15-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC23A2-
-
-
-
3Gain-
SLC23A3-
-
-
-
1Loss-
SLC24A2-
-
-
-
5Amp-
SLC24A3-
-
-
-
3Gain-
SLC24A5-
-
-
-
1Loss-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
3Gain-
SLC25A20-
-
-
-
1Loss-
SLC25A23-
-
-
-
3Gain-
SLC25A24-
-
-
-
1Loss-
SLC25A25-
-
-
-
3Gain-
SLC25A26-
-
-
-
1Loss-
SLC25A3-
-
-
-
3Gain-
SLC25A31-
-
-
-
1Loss-
SLC25A32-
-
-
-
1Loss-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A36-
-
-
-
4Gain-
SLC25A38-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A41-
-
-
-
3Gain-
SLC25A42-
-
-
-
5Amp-
SLC25A51-
-
-
-
5Amp-
SLC25A52-
-
-
-
3Gain-
SLC26A10-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC27A1-
-
-
-
4Gain-
SLC27A2-
-
-
-
1Loss-
SLC27A4-
-
-
-
3Gain-
SLC28A2-
-
-
-
1Loss-
SLC28A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A1-
-
-
-
1Loss-
SLC2A10-
-
-
-
1Loss-
SLC2A11-
-
-
-
3Gain-
SLC2A13-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A2-
-
-
-
11Amp-
SLC2A3-
-
-
-
3Gain-
SLC2A5-
-
-
-
1Loss-
SLC2A6-
-
-
-
3Gain-
SLC2A7-
-
-
-
1Loss-
SLC2A8-
-
-
-
3Gain-
SLC30A2-
-
-
-
1Loss-
SLC30A4-
-
-
-
1Loss-
SLC30A7-
-
-
-
1Loss-
SLC32A1-
-
-
-
1Loss-
SLC33A1-
-
-
-
9Amp-
SLC34A3-
-
-
-
3Gain-
SLC35A3-
-
-
-
1Loss-
SLC35A5-
-
-
-
4Gain-
SLC35B4-
-
-
-
13Amp-
SLC35C2-
-
-
-
1Loss-
SLC35D1-
-
-
-
1Loss-
SLC35E1-
-
-
-
4Gain-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC35E3-
-
-
-
3Gain-
SLC35E4-
-
-
-
3Gain-
SLC35G2-
-
-
-
4Gain-
SLC35G4-
-
-
-
3Gain-
SLC37A3-
-
-
-
7Amp-
SLC38A1-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A3-
-
-
-
1Loss-
SLC38A4-
-
-
-
3Gain-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A10-
-
-
-
3Gain-
SLC39A12-
-
-
-
1Loss-
SLC39A3-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC39A6-
-
-
-
3Gain-
SLC39A8-
-
-
-
1Loss-
SLC41A2-
-
-
-
3Gain-
SLC41A3-
-
-
-
4Gain-
SLC43A1p.G283S
Missense
SNP
0.698
2--
SLC44A2-
-
-
-
3Gain-
SLC44A3-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC45A2-
-
-
-
3Gain-
SLC46A1-
-
-
-
6Amp-
SLC48A1-
-
-
-
3Gain-
SLC4A10p.R171S
Missense
SNP
0.367
2--
SLC4A11-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A3-
-
-
-
1Loss-
SLC4A4-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A8-
-
-
-
3Gain-
SLC51A-
-
-
-
4Gain-
SLC52A3-
-
-
-
3Gain-
SLC5A1-
-
-
-
3Gain-
SLC5A4-
-
-
-
3Gain-
SLC5A5-
-
-
-
4Gain-
SLC5A8-
-
-
-
3Gain-
SLC5A9-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC6A16-
-
-
-
1Loss-
SLC6A17-
-
-
-
1Loss-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A2-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
3Gain-
SLC6A6-
-
-
-
1Loss-
SLC6A9-
-
-
-
1Loss-
SLC7A10-
-
-
-
3Gain-
SLC7A11-
-
-
-
1Loss-
SLC7A14-
-
-
-
11Amp-
SLC7A4-
-
-
-
3Gain-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC7A9-
-
-
-
3Gain-
SLC8B1-
-
-
-
3Gain-
SLC9A1-
-
-
-
1Loss-
SLC9A3-
-
-
-
3Gain-
SLC9A5-
-
-
-
1Loss-
SLC9A8-
-
-
-
1Loss-
SLC9A9-
-
-
-
4Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C1-
-
-
-
4Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO2A1-
-
-
-
4Gain-
SLCO5A1-
-
-
-
1Loss-
SLFNL1-
-
-
-
1Loss-
SLITRK3-
-
-
-
8Amp-
SLMAP-
-
-
-
1Loss-
SLPI-
-
-
-
1Loss-
SLTM-
-
-
-
1Loss-
SLX4IP-
-
-
-
3Gain-
SMAD1-
-
-
-
1Loss-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD5p.V355L
Missense
SNP
1.000
2--
SMAD7p.D382G
Missense
SNP
0.522
3Gain-
SMAGP-
-
-
-
3Gain-
SMAP2-
-
-
-
1Loss-
SMARCA2-
-
-
-
5Amp-
SMARCA4-
-
-
-
3Gain-
SMARCA5-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCB1-
-
-
-
3Gain-
SMARCC1-
-
-
-
1Loss-
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMC1B-
-
-
-
1Loss-
SMC4-
-
-
-
8Amp-
SMC5-
-
-
-
5Amp-
SMCHD1p.N1439T
Missense
SNP
0.431
3Gain-
SMCO1-
-
-
-
4Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMDT1-
-
-
-
1Loss-
SMG9-
-
-
-
1Loss-
SMIM1-
-
-
-
1Loss-
SMIM12-
-
-
-
1Loss-
SMIM17-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM24-
-
-
-
3Gain-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
5Amp-
SMIM4-
-
-
-
1Loss-
SMIM7-
-
-
-
4Gain-
SMOX-
-
-
-
3Gain-
SMPD3-
-
-
-
1Loss-
SMPDL3B-
-
-
-
1Loss-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTN-
-
-
-
3Gain-
SMU1-
-
-
-
5Amp-
SMUG1-
-
-
-
3Gain-
SNAI1-
-
-
-
1Loss-
SNAI2-
-
-
-
1Loss-
SNAI3-
-
-
-
1Loss-
SNAP25-
-
-
-
3Gain-
SNAP29-
-
-
-
3Gain-
SNAPC2-
-
-
-
3Gain-
SNAPC3-
-
-
-
5Amp-
SNAPC4-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNED1-
-
-
-
1Loss-
SNIP1-
-
-
-
1Loss-
SNORC-
-
-
-
1Loss-
SNPH-
-
-
-
3Gain-
SNRK-
-
-
-
1Loss-
SNRNP35-
-
-
-
3Gain-
SNRNP40-
-
-
-
1Loss-
SNRNP70-
-
-
-
1Loss-
SNRPA-
-
-
-
3Gain-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPD1-
-
-
-
3Gain-
SNRPD3-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SNTB2-
-
-
-
1Loss-
SNTG1-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNU13-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX16-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX21-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX31-
-
-
-
1Loss-
SNX4-
-
-
-
4Gain-
SNX5-
-
-
-
3Gain-
SNX7-
-
-
-
1Loss-
SNX8-
-
-
-
3Gain-
SOAT2-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOCS6-
-
-
-
1Loss-
SOHLH1-
-
-
-
3Gain-
SORBS2-
-
-
-
1Loss-
SORCS1p.V1118D
p.X611_splice
Missense
Splice_Site
SNP
SNP
0.302
0.663
2--
SORD-
-
-
-
1Loss-
SORT1-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHB-
-
-
-
1Loss-
SOX1-
-
-
-
3Gain-
SOX10-
-
-
-
5Amp-
SOX12-
-
-
-
3Gain-
SOX14-
-
-
-
4Gain-
SOX17-
-
-
-
1Loss-
SOX2-
-
-
-
4Gain-
SOX5-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP4-
-
-
-
3Gain-
SP7-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPAAR-
-
-
-
5Amp-
SPACA6-
-
-
-
1Loss-
SPACA7-
-
-
-
3Gain-
SPACA9-
-
-
-
3Gain-
SPAG1-
-
-
-
1Loss-
SPAG16-
-
-
-
1Loss-
SPAG17-
-
-
-
1Loss-
SPAG5-
-
-
-
6Amp-
SPAG6-
-
-
-
1Loss-
SPAG8-
-
-
-
5Amp-
SPARCL1-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA16-
-
-
-
8Amp-
SPATA18-
-
-
-
3Gain-
SPATA2-
-
-
-
1Loss-
SPATA21-
-
-
-
1Loss-
SPATA25-
-
-
-
1Loss-
SPATA2L-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA31E1-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA4-
-
-
-
1Loss-
SPATA48-
-
-
-
3Gain-
SPATA5-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA6-
-
-
-
1Loss-
SPATA6L-
-
-
-
5Amp-
SPATA8-
-
-
-
1Loss-
SPATS2-
-
-
-
3Gain-
SPATS2L-
-
-
-
1Loss-
SPC24-
-
-
-
3Gain-
SPCS1-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF1-
-
-
-
3Gain-
SPEF2-
-
-
-
3Gain-
SPEG-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHKAP-
-
-
-
1Loss-
SPIB-
-
-
-
1Loss-
SPIC-
-
-
-
3Gain-
SPICE1-
-
-
-
4Gain-
SPIDR-
-
-
-
1Loss-
SPINK2-
-
-
-
9Amp-
SPINK4-
-
-
-
5Amp-
SPINK8-
-
-
-
1Loss-
SPINT2-
-
-
-
3Gain-
SPINT3-
-
-
-
1Loss-
SPINT4-
-
-
-
1Loss-
SPIRE1-
-
-
-
3Gain-
SPIRE2-
-
-
-
1Loss-
SPOCD1-
-
-
-
1Loss-
SPOCK3-
-
-
-
1Loss-
SPOUT1-
-
-
-
3Gain-
SPP1-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPPL2B-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRED3-
-
-
-
3Gain-
SPRY1-
-
-
-
1Loss-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPSB1-
-
-
-
1Loss-
SPSB2-
-
-
-
3Gain-
SPSB4-
-
-
-
4Gain-
SPTAN1-
-
-
-
3Gain-
SPTBN4-
-
-
-
3Gain-
SPTLC3-
-
-
-
3Gain-
SPTSSB-
-
-
-
8Amp-
SPX-
-
-
-
3Gain-
SQOR-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRD5A1-
-
-
-
3Gain-
SRD5A3-
-
-
-
3Gain-
SREBF2-
-
-
-
1Loss-
SRGAP1-
-
-
-
3Gain-
SRGAP2C-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRM-
-
-
-
1Loss-
SRP72-
-
-
-
6Amp-
SRPRB-
-
-
-
4Gain-
SRRD-
-
-
-
3Gain-
SRRM1-
-
-
-
1Loss-
SRRM4-
-
-
-
3Gain-
SRRM5-
-
-
-
1Loss-
SRSF10-
-
-
-
1Loss-
SRSF11-
-
-
-
1Loss-
SRSF4-
-
-
-
1Loss-
SRSF6-
-
-
-
1Loss-
SRSF9-
-
-
-
3Gain-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSBP1-
-
-
-
3Gain-
SSBP3-
-
-
-
1Loss-
SSBP4-
-
-
-
5Amp-
SSH1-
-
-
-
3Gain-
SSNA1-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
SSPO-
-
-
-
5Amp-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
4Gain-
SSTR3-
-
-
-
5Amp-
SSTR4-
-
-
-
3Gain-
SSU72-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
SSX2IP-
-
-
-
1Loss-
ST13-
-
-
-
1Loss-
ST18-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST3GAL3-
-
-
-
1Loss-
ST3GAL6-
-
-
-
4Gain-
ST6GAL1-
-
-
-
4Gain-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC4-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
1Loss-
ST6GALNAC6-
-
-
-
3Gain-
ST7L-
-
-
-
1Loss-
ST8SIA1-
-
-
-
3Gain-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
3Gain-
STAB1-
-
-
-
1Loss-
STAB2-
-
-
-
3Gain-
STAC-
-
-
-
1Loss-
STAC3-
-
-
-
3Gain-
STAG1-
-
-
-
4Gain-
STAM2-
-
-
-
3Gain-
STAP1-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STARD6-
-
-
-
3Gain-
STAT2-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STATH-
-
-
-
1Loss-
STAU1-
-
-
-
1Loss-
STAU2-
-
-
-
1Loss-
STBD1-
-
-
-
1Loss-
STEAP1B-
-
-
-
3Gain-
STIL-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STK11-
-
-
-
3Gain-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK17B-
-
-
-
3Gain-
STK25-
-
-
-
1Loss-
STK3-
-
-
-
1Loss-
STK31-
-
-
-
3Gain-
STK35-
-
-
-
3Gain-
STK36-
-
-
-
1Loss-
STK38L-
-
-
-
3Gain-
STK4-
-
-
-
1Loss-
STK40-
-
-
-
1Loss-
STKLD1-
-
-
-
3Gain-
STMN1-
-
-
-
1Loss-
STMN2-
-
-
-
1Loss-
STMN4p.E184K
Missense
SNP
0.621
2--
STMP1-
-
-
-
3Gain-
STOM-
-
-
-
3Gain-
STOML2-
-
-
-
5Amp-
STON1p.K363E
Missense
SNP
0.540
2--
STOX2-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STPG3-
-
-
-
3Gain-
STRA8-
-
-
-
9Amp-
STRADB-
-
-
-
1Loss-
STRAP-
-
-
-
3Gain-
STRBP-
-
-
-
3Gain-
STRC-
-
-
-
1Loss-
STRIP1-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX10-
-
-
-
3Gain-
STX12-
-
-
-
1Loss-
STX19-
-
-
-
4Gain-
STX2-
-
-
-
3Gain-
STXBP1-
-
-
-
3Gain-
STXBP2-
-
-
-
3Gain-
STXBP3-
-
-
-
1Loss-
STXBP5L-
-
-
-
4Gain-
STYK1-
-
-
-
3Gain-
SUB1-
-
-
-
3Gain-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
4Gain-
SUDS3-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SUGP1-
-
-
-
5Amp-
SUGP2-
-
-
-
5Amp-
SULF1-
-
-
-
1Loss-
SULF2-
-
-
-
1Loss-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT4A1-
-
-
-
1Loss-
SUMF1-
-
-
-
0Del-
SUMF2-
-
-
-
3Gain-
SUMO1-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
5Amp-
SUN3-
-
-
-
3Gain-
SUN5p.P248A
Missense
SNP
0.486
2--
SUOX-
-
-
-
3Gain-
SUPT5H-
-
-
-
3Gain-
SURF1-
-
-
-
3Gain-
SURF2-
-
-
-
3Gain-
SURF4-
-
-
-
3Gain-
SURF6-
-
-
-
3Gain-
SUSD2-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SVBP-
-
-
-
1Loss-
SVIL-
-
-
-
1Loss-
SVOP-
-
-
-
3Gain-
SVOPL-
-
-
-
7Amp-
SWI5-
-
-
-
3Gain-
SWSAP1-
-
-
-
3Gain-
SYBU-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCE2-
-
-
-
3Gain-
SYCE3-
-
-
-
1Loss-
SYCN-
-
-
-
3Gain-
SYCP1-
-
-
-
1Loss-
SYCP3-
-
-
-
3Gain-
SYDE1-
-
-
-
4Gain-
SYDE2-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYN2-
-
-
-
1Loss-
SYN3-
-
-
-
3Gain-
SYNC-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNGR1-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYPL2-
-
-
-
1Loss-
SYS1-
-
-
-
1Loss-
SYS1-DBNDD2-
-
-
-
1Loss-
SYT1-
-
-
-
3Gain-
SYT10-
-
-
-
3Gain-
SYT3-
-
-
-
1Loss-
SYT4-
-
-
-
3Gain-
SYT6-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SZRD1-
-
-
-
1Loss-
SZT2-
-
-
-
1Loss-
TAAR8p.W270R
Missense
SNP
0.629
2--
TAB1-
-
-
-
1Loss-
TAC3-
-
-
-
3Gain-
TACR3-
-
-
-
1Loss-
TACSTD2-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF12-
-
-
-
1Loss-
TAF13-
-
-
-
1Loss-
TAF1C-
-
-
-
1Loss-
TAF1L-
-
-
-
5Amp-
TAF3-
-
-
-
1Loss-
TAF4B-
-
-
-
3Gain-
TAGLN3-
-
-
-
4Gain-
TAL1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TANC1-
-
-
-
3Gain-
TANGO2-
-
-
-
3Gain-
TANGO6-
-
-
-
1Loss-
TAOK3-
-
-
-
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TARDBP-
-
-
-
1Loss-
TARS-
-
-
-
3Gain-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
1Loss-
TAS2R1-
-
-
-
3Gain-
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
5Amp-
TAS2R41-
-
-
-
5Amp-
TAS2R42-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R60-
-
-
-
5Amp-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9p.V80L
Missense
SNP
0.240
3Gain-
TASP1-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TATDN2-
-
-
-
1Loss-
TAX1BP1-
-
-
-
3Gain-
TBC1D10A-
-
-
-
3Gain-
TBC1D13-
-
-
-
3Gain-
TBC1D15-
-
-
-
3Gain-
TBC1D17-
-
-
-
1Loss-
TBC1D20-
-
-
-
3Gain-
TBC1D22A-
-
-
-
1Loss-
TBC1D23-
-
-
-
4Gain-
TBC1D30-
-
-
-
3Gain-
TBC1D5-
-
-
-
1Loss-
TBC1D9-
-
-
-
1Loss-
TBCCD1-
-
-
-
4Gain-
TBCK-
-
-
-
1Loss-
TBK1-
-
-
-
3Gain-
TBL1XR1-
-
-
-
4Gain-
TBRG4-
-
-
-
3Gain-
TBX1-
-
-
-
3Gain-
TBX15-
-
-
-
1Loss-
TBX20-
-
-
-
3Gain-
TBX3-
-
-
-
3Gain-
TBX5-
-
-
-
3Gain-
TBXA2R-
-
-
-
3Gain-
TBXAS1-
-
-
-
7Amp-
TCAF1-
-
-
-
5Amp-
TCAF2-
-
-
-
5Amp-
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
1Loss-
TCEA3-
-
-
-
1Loss-
TCEANC2-
-
-
-
1Loss-
TCF12-
-
-
-
1Loss-
TCF15-
-
-
-
3Gain-
TCF20-
-
-
-
1Loss-
TCF24-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF3-
-
-
-
3Gain-
TCF4-
-
-
-
1Loss-
TCHP-
-
-
-
3Gain-
TCN2-
-
-
-
3Gain-
TCP11L2-
-
-
-
3Gain-
TCTA-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
4Gain-
TCTEX1D4-
-
-
-
1Loss-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TDGF1-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDRD12-
-
-
-
3Gain-
TEAD2-
-
-
-
1Loss-
TEAD4-
-
-
-
3Gain-
TECR-
-
-
-
3Gain-
TECRL-
-
-
-
1Loss-
TEF-
-
-
-
1Loss-
TEK-
-
-
-
5Amp-
TEKT2-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TENT4A-
-
-
-
3Gain-
TENT4B-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TENT5C-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TERT-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESK1-
-
-
-
5Amp-
TESK2-
-
-
-
1Loss-
TESPA1-
-
-
-
3Gain-
TET2-
-
-
-
1Loss-
TEX101-
-
-
-
1Loss-
TEX13Cp.L892M
Missense
SNP
1.000
NDND-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX33-
-
-
-
5Amp-
TEX38-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX45-
-
-
-
3Gain-
TEX46-
-
-
-
1Loss-
TEX49-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TEX9-
-
-
-
1Loss-
TF-
-
-
-
4Gain-
TFAP2E-
-
-
-
1Loss-
TFCP2-
-
-
-
3Gain-
TFDP1-
-
-
-
3Gain-
TFDP2-
-
-
-
4Gain-
TFG-
-
-
-
4Gain-
TFIP11-
-
-
-
3Gain-
TFRC-
-
-
-
4Gain-
TGFB1-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3-
-
-
-
1Loss-
TGFBR3L-
-
-
-
3Gain-
TGIF1-
-
-
-
3Gain-
TGM2-
-
-
-
1Loss-
TGM3-
-
-
-
3Gain-
TGM4-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGS1-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP2-
-
-
-
3Gain-
THAP3-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THAP6-
-
-
-
1Loss-
THAP7-
-
-
-
3Gain-
THAP9-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THEG-
-
-
-
3Gain-
THEGL-
-
-
-
9Amp-
THEMIS2-
-
-
-
1Loss-
THNSL1-
-
-
-
1Loss-
THOC1-
-
-
-
3Gain-
THOC5-
-
-
-
3Gain-
THOC7-
-
-
-
1Loss-
THOP1-
-
-
-
3Gain-
THPO-
-
-
-
4Gain-
THRAp.S203C
Missense
SNP
1.000
2--
THRAP3-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
THSD7Ap.A169E
Missense
SNP
0.459
3Gain-
THSD7Bp.G246*
Nonsense
SNP
0.438
2--
THUMPD3-
-
-
-
1Loss-
TICAM1-
-
-
-
3Gain-
TIE1-
-
-
-
1Loss-
TIFA-
-
-
-
1Loss-
TIGAR-
-
-
-
3Gain-
TIGD1-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIGIT-
-
-
-
4Gain-
TIMELESS-
-
-
-
3Gain-
TIMM13-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMM29-
-
-
-
3Gain-
TIMM44-
-
-
-
3Gain-
TIMM50-
-
-
-
3Gain-
TIMMDC1-
-
-
-
4Gain-
TIMP3-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TINAGL1-
-
-
-
1Loss-
TIPARP-
-
-
-
3Gain-
TJP2-
-
-
-
5Amp-
TJP3-
-
-
-
3Gain-
TK2-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE1p.M427I
Missense
SNP
0.598
1Loss-
TLE2-
-
-
-
3Gain-
TLE4-
-
-
-
1Loss-
TLE6-
-
-
-
3Gain-
TLE7-
-
-
-
1Loss-
TLL1-
-
-
-
1Loss-
TLN1-
-
-
-
5Amp-
TLN2-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR7p.H298D
Missense
SNP
1.000
NDND-
TLR9-
-
-
-
1Loss-
TM2D1-
-
-
-
1Loss-
TM2D3-
-
-
-
1Loss-
TM4SF1-
-
-
-
4Gain-
TM4SF18-
-
-
-
4Gain-
TM4SF19-
-
-
-
4Gain-
TM4SF19-TCTEX1D2-
-
-
-
4Gain-
TM4SF20-
-
-
-
1Loss-
TM4SF4-
-
-
-
4Gain-
TM6SF2-
-
-
-
5Amp-
TM7SF3-
-
-
-
3Gain-
TMA16-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMC1-
-
-
-
1Loss-
TMC2-
-
-
-
3Gain-
TMCC1-
-
-
-
4Gain-
TMCC3-
-
-
-
3Gain-
TMCO2-
-
-
-
1Loss-
TMCO3-
-
-
-
3Gain-
TMCO4-
-
-
-
1Loss-
TMED1-
-
-
-
3Gain-
TMED2-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED5-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM106C-
-
-
-
3Gain-
TMEM108-
-
-
-
4Gain-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM121B-
-
-
-
3Gain-
TMEM125-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132D-
-
-
-
3Gain-
TMEM135p.M342I
Missense
SNP
0.667
2--
TMEM139-
-
-
-
5Amp-
TMEM140-
-
-
-
9Amp-
TMEM141-
-
-
-
3Gain-
TMEM144-
-
-
-
1Loss-
TMEM145-
-
-
-
1Loss-
TMEM150C-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161A-
-
-
-
5Amp-
TMEM165-
-
-
-
3Gain-
TMEM167B-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM170A-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
7Amp-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
5Amp-
TMEM184C-
-
-
-
1Loss-
TMEM189-
-
-
-
1Loss-
TMEM189-UBE2V1-
-
-
-
1Loss-
TMEM19-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM192-
-
-
-
1Loss-
TMEM196-
-
-
-
3Gain-
TMEM198-
-
-
-
1Loss-
TMEM199-
-
-
-
6Amp-
TMEM200B-
-
-
-
1Loss-
TMEM200C-
-
-
-
3Gain-
TMEM201-
-
-
-
1Loss-
TMEM203-
-
-
-
3Gain-
TMEM205-
-
-
-
3Gain-
TMEM207-
-
-
-
4Gain-
TMEM208-
-
-
-
1Loss-
TMEM210-
-
-
-
3Gain-
TMEM211-
-
-
-
3Gain-
TMEM212-
-
-
-
8Amp-
TMEM213-
-
-
-
7Amp-
TMEM215-
-
-
-
5Amp-
TMEM221-
-
-
-
4Gain-
TMEM222-
-
-
-
1Loss-
TMEM230-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM233-
-
-
-
3Gain-
TMEM234-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM239-
-
-
-
3Gain-
TMEM240-
-
-
-
1Loss-
TMEM241-
-
-
-
3Gain-
TMEM247p.R127W
Missense
SNP
0.203
2--
TMEM250-
-
-
-
3Gain-
TMEM252-
-
-
-
5Amp-
TMEM255B-
-
-
-
3Gain-
TMEM259-
-
-
-
3Gain-
TMEM263-
-
-
-
3Gain-
TMEM267-
-
-
-
3Gain-
TMEM269-
-
-
-
1Loss-
TMEM35B-
-
-
-
1Loss-
TMEM38A-
-
-
-
4Gain-
TMEM39A-
-
-
-
4Gain-
TMEM39B-
-
-
-
1Loss-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
4Gain-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
4Gain-
TMEM45A-
-
-
-
4Gain-
TMEM50A-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM52B-
-
-
-
3Gain-
TMEM53-
-
-
-
1Loss-
TMEM54-
-
-
-
1Loss-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM59-
-
-
-
1Loss-
TMEM59L-
-
-
-
5Amp-
TMEM61-
-
-
-
1Loss-
TMEM64p.L88V
Missense
SNP
0.742
2--
TMEM67-
-
-
-
1Loss-
TMEM68-
-
-
-
1Loss-
TMEM69-
-
-
-
1Loss-
TMEM70-
-
-
-
1Loss-
TMEM74-
-
-
-
1Loss-
TMEM74B-
-
-
-
3Gain-
TMEM82-
-
-
-
1Loss-
TMEM88B-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
5Amp-
TMEM91-
-
-
-
3Gain-
TMEM97-
-
-
-
6Amp-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD2-
-
-
-
3Gain-
TMIGD3-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMPO-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS12-
-
-
-
3Gain-
TMPRSS6-
-
-
-
5Amp-
TMPRSS7-
-
-
-
4Gain-
TMPRSS9-
-
-
-
3Gain-
TMTC1-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMTC4-
-
-
-
3Gain-
TMUB1-
-
-
-
3Gain-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNFAIP1-
-
-
-
6Amp-
TNFAIP6-
-
-
-
3Gain-
TNFAIP8L1-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF1A-
-
-
-
3Gain-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF10-
-
-
-
8Amp-
TNFSF13B-
-
-
-
3Gain-
TNFSF14-
-
-
-
3Gain-
TNFSF9-
-
-
-
3Gain-
TNIK-
-
-
-
11Amp-
TNIP3-
-
-
-
1Loss-
TNK2-
-
-
-
4Gain-
TNNC1-
-
-
-
1Loss-
TNNC2-
-
-
-
1Loss-
TNNI3K-
-
-
-
1Loss-
TNP1-
-
-
-
1Loss-
TNPO2-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6B-
-
-
-
1Loss-
TNS1-
-
-
-
1Loss-
TNS2-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TOB2-
-
-
-
1Loss-
TOE1-
-
-
-
1Loss-
TOM1-
-
-
-
3Gain-
TOMM22-
-
-
-
5Amp-
TOMM34-
-
-
-
1Loss-
TOMM5-
-
-
-
5Amp-
TOMM7-
-
-
-
3Gain-
TOMM70-
-
-
-
4Gain-
TOP1-
-
-
-
1Loss-
TOP2B-
-
-
-
1Loss-
TOP3B-
-
-
-
3Gain-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
4Gain-
TOPORS-
-
-
-
5Amp-
TOR1A-
-
-
-
3Gain-
TOR1B-
-
-
-
3Gain-
TOR2A-
-
-
-
3Gain-
TOR4A-
-
-
-
3Gain-
TOX-
-
-
-
1Loss-
TOX2-
-
-
-
1Loss-
TOX3-
-
-
-
1Loss-
TP53p.E258K
Missense
SNP
1.000
2--
TP53INP1-
-
-
-
1Loss-
TP53RK-
-
-
-
1Loss-
TP53TG5-
-
-
-
1Loss-
TP63-
-
-
-
4Gain-
TP73-
-
-
-
1Loss-
TPCN1-
-
-
-
3Gain-
TPD52-
-
-
-
1Loss-
TPD52L3-
-
-
-
5Amp-
TPGS1-
-
-
-
3Gain-
TPGS2-
-
-
-
3Gain-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TPK1-
-
-
-
5Amp-
TPM1-
-
-
-
1Loss-
TPM2-
-
-
-
5Amp-
TPM4-
-
-
-
4Gain-
TPP2-
-
-
-
3Gain-
TPPP-
-
-
-
3Gain-
TPPP3-
-
-
-
1Loss-
TPRA1-
-
-
-
4Gain-
TPRG1-
-
-
-
4Gain-
TPRG1L-
-
-
-
1Loss-
TPRN-
-
-
-
3Gain-
TPST2-
-
-
-
3Gain-
TPTE-
-
-
-
3Gain-
TPTEP2-CSNK1E-
-
-
-
5Amp-
TRA2A-
-
-
-
3Gain-
TRA2B-
-
-
-
4Gain-
TRABD-
-
-
-
1Loss-
TRABD2B-
-
-
-
1Loss-
TRADD-
-
-
-
1Loss-
TRAF1-
-
-
-
3Gain-
TRAF2-
-
-
-
3Gain-
TRAF3IP1-
-
-
-
1Loss-
TRAFD1-
-
-
-
3Gain-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAM1-
-
-
-
1Loss-
TRAM1L1-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3-
-
-
-
1Loss-
TRAPPC5-
-
-
-
3Gain-
TRAPPC8-
-
-
-
3Gain-
TRAT1-
-
-
-
4Gain-
TRAV12-3p.Q86*
Nonsense
SNP
0.628
NDND-
TRAV8-1p.A20D
Missense
SNP
0.316
NDND-
TREX1-
-
-
-
1Loss-
TRHp.D65Y
Missense
SNP
0.292
4Gain-
TRHDE-
-
-
-
3Gain-
TRHR-
-
-
-
1Loss-
TRIAP1-
-
-
-
3Gain-
TRIB3-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM15p.P109T
Missense
SNP
0.322
2--
TRIM2-
-
-
-
1Loss-
TRIM24-
-
-
-
7Amp-
TRIM33-
-
-
-
1Loss-
TRIM42p.R171Q
Missense
SNP
0.161
4Gain-
TRIM45-
-
-
-
1Loss-
TRIM55-
-
-
-
1Loss-
TRIM59-
-
-
-
8Amp-
TRIM6p.V387L
Missense
SNP
0.293
2--
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM62-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM75P-
-
-
-
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
3Gain-
TRIOBP-
-
-
-
5Amp-
TRIP10-
-
-
-
3Gain-
TRIP12-
-
-
-
1Loss-
TRIP13-
-
-
-
3Gain-
TRIQK-
-
-
-
1Loss-
TRIR-
-
-
-
3Gain-
TRIT1-
-
-
-
1Loss-
TRMT1-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT10B-
-
-
-
5Amp-
TRMT10C-
-
-
-
4Gain-
TRMT13-
-
-
-
1Loss-
TRMT2A-
-
-
-
3Gain-
TRMT6-
-
-
-
3Gain-
TRMU-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TRNT1-
-
-
-
0Del-
TROAP-
-
-
-
3Gain-
TRPA1-
-
-
-
1Loss-
TRPC1-
-
-
-
4Gain-
TRPC3-
-
-
-
1Loss-
TRPM3-
-
-
-
5Amp-
TRPM4-
-
-
-
1Loss-
TRPM6-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPM8-
-
-
-
1Loss-
TRPV4-
-
-
-
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRUB2-
-
-
-
3Gain-
TSC1-
-
-
-
3Gain-
TSC22D2-
-
-
-
4Gain-
TSEN2-
-
-
-
1Loss-
TSFM-
-
-
-
3Gain-
TSHB-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
1Loss-
TSHZ3-
-
-
-
3Gain-
TSKS-
-
-
-
1Loss-
TSNp.X86_splice
Splice_Site
SNP
0.547
2--
TSNAXIP1-
-
-
-
1Loss-
TSPAN1-
-
-
-
1Loss-
TSPAN11-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN16-
-
-
-
3Gain-
TSPAN19-
-
-
-
3Gain-
TSPAN2-
-
-
-
1Loss-
TSPAN31-
-
-
-
3Gain-
TSPAN32p.E248G
Missense
SNP
0.672
2--
TSPAN5-
-
-
-
1Loss-
TSPAN8-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TSPO-
-
-
-
1Loss-
TSPYL5-
-
-
-
1Loss-
TSSK3-
-
-
-
1Loss-
TSSK6-
-
-
-
5Amp-
TST-
-
-
-
5Amp-
TTC14-
-
-
-
4Gain-
TTC16-
-
-
-
3Gain-
TTC21A-
-
-
-
1Loss-
TTC22-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC23L-
-
-
-
3Gain-
TTC26-
-
-
-
7Amp-
TTC28-
-
-
-
3Gain-
TTC29-
-
-
-
1Loss-
TTC33-
-
-
-
3Gain-
TTC34-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTC39A-
-
-
-
1Loss-
TTC39B-
-
-
-
5Amp-
TTC39C-
-
-
-
3Gain-
TTC4-
-
-
-
1Loss-
TTC9B-
-
-
-
3Gain-
TTF1-
-
-
-
3Gain-
TTF2-
-
-
-
1Loss-
TTI1-
-
-
-
1Loss-
TTLL1-
-
-
-
1Loss-
TTLL10-
-
-
-
1Loss-
TTLL11-
-
-
-
3Gain-
TTLL12-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTLL7-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTNp.P5839T
Missense
SNP
0.447
2--
TTPA-
-
-
-
1Loss-
TTPAL-
-
-
-
1Loss-
TTR-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBA8p.T382M
Missense
SNP
0.713
2--
TUBAL3-
-
-
-
1Loss-
TUBB3-
-
-
-
1Loss-
TUBB4A-
-
-
-
3Gain-
TUBB4B-
-
-
-
3Gain-
TUBB6-
-
-
-
3Gain-
TUBB8-
-
-
-
1Loss-
TUBGCP3-
-
-
-
3Gain-
TUBGCP6-
-
-
-
1Loss-
TULP2-
-
-
-
1Loss-
TULP3-
-
-
-
3Gain-
TUSC1-
-
-
-
5Amp-
TUSC2-
-
-
-
1Loss-
TUT4-
-
-
-
1Loss-
TUT7-
-
-
-
1Loss-
TWF1-
-
-
-
3Gain-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWIST2-
-
-
-
1Loss-
TWISTNB-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXLNA-
-
-
-
1Loss-
TXN2-
-
-
-
3Gain-
TXNDC12-
-
-
-
1Loss-
TXNDC2-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TXNRD1-
-
-
-
3Gain-
TXNRD2-
-
-
-
3Gain-
TXNRD3-
-
-
-
4Gain-
TYK2-
-
-
-
3Gain-
TYMP-
-
-
-
1Loss-
TYMS-
-
-
-
3Gain-
TYRP1-
-
-
-
5Amp-
TYW3-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2SURP-
-
-
-
4Gain-
UAP1L1-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
4Gain-
UBA52-
-
-
-
5Amp-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC1-
-
-
-
3Gain-
UBAP1-
-
-
-
5Amp-
UBAP2-
-
-
-
5Amp-
UBC-
-
-
-
3Gain-
UBE2C-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2J2-
-
-
-
1Loss-
UBE2L3-
-
-
-
3Gain-
UBE2N-
-
-
-
3Gain-
UBE2QL1-
-
-
-
3Gain-
UBE2R2-
-
-
-
5Amp-
UBE2U-
-
-
-
1Loss-
UBE2V1-
-
-
-
1Loss-
UBE2V2-
-
-
-
1Loss-
UBE2W-
-
-
-
1Loss-
UBE3B-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL4B-
-
-
-
1Loss-
UBL5-
-
-
-
3Gain-
UBN2-
-
-
-
7Amp-
UBOX5-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
1Loss-
UBR4-
-
-
-
1Loss-
UBR5-
-
-
-
1Loss-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN2B-
-
-
-
1Loss-
UBXN6-
-
-
-
3Gain-
UBXN7-
-
-
-
4Gain-
UCK1-
-
-
-
3Gain-
UCMA-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UCP1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UGT8-
-
-
-
1Loss-
UHRF1-
-
-
-
3Gain-
UHRF1BP1L-
-
-
-
3Gain-
UHRF2-
-
-
-
5Amp-
ULK1-
-
-
-
3Gain-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UMODL1p.G1249R
Missense
SNP
0.146
2--
UMPS-
-
-
-
4Gain-
UNC119-
-
-
-
6Amp-
UNC119B-
-
-
-
3Gain-
UNC13A-
-
-
-
4Gain-
UNC13B-
-
-
-
5Amp-
UNC13C-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC80-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UNG-
-
-
-
3Gain-
UNKLp.S479F
Missense
SNP
0.277
2--
UPB1-
-
-
-
3Gain-
UPF1-
-
-
-
5Amp-
UPF2-
-
-
-
1Loss-
UPF3A-
-
-
-
3Gain-
UPK1B-
-
-
-
4Gain-
UPK3A-
-
-
-
1Loss-
UPP1-
-
-
-
3Gain-
UPP2-
-
-
-
3Gain-
UQCR10-
-
-
-
3Gain-
UQCR11-
-
-
-
3Gain-
UQCRB-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRFS1-
-
-
-
3Gain-
UQCRH-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URI1-
-
-
-
3Gain-
URM1-
-
-
-
3Gain-
UROC1-
-
-
-
4Gain-
UROD-
-
-
-
1Loss-
USB1-
-
-
-
1Loss-
USE1-
-
-
-
4Gain-
USF3-
-
-
-
4Gain-
USH2Ap.S3564*
p.X2894_splice
Nonsense
Splice_Site
SNP
SNP
0.713
0.364
2--
USHBP1-
-
-
-
4Gain-
USO1-
-
-
-
1Loss-
USP1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP13-
-
-
-
4Gain-
USP14-
-
-
-
3Gain-
USP15-
-
-
-
3Gain-
USP19-
-
-
-
1Loss-
USP20-
-
-
-
3Gain-
USP24-
-
-
-
1Loss-
USP25-
-
-
-
1Loss-
USP29p.G8E
Missense
SNP
0.539
1Loss-
USP30-
-
-
-
3Gain-
USP31p.I28T
Missense
SNP
0.862
2--
USP33-
-
-
-
1Loss-
USP37-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP41-
-
-
-
3Gain-
USP42-
-
-
-
3Gain-
USP44-
-
-
-
3Gain-
USP46-
-
-
-
3Gain-
USP48-
-
-
-
1Loss-
USP5-
-
-
-
3Gain-
USP50-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
UTP11-
-
-
-
1Loss-
UTP20-
-
-
-
3Gain-
UTP3-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
UTS2-
-
-
-
1Loss-
UTS2B-
-
-
-
4Gain-
VAC14-
-
-
-
1Loss-
VAMP1-
-
-
-
3Gain-
VAMP3-
-
-
-
1Loss-
VANGL1-
-
-
-
1Loss-
VAPA-
-
-
-
3Gain-
VAT1L-
-
-
-
1Loss-
VAV1-
-
-
-
3Gain-
VAV2-
-
-
-
3Gain-
VAV3-
-
-
-
1Loss-
VCAM1-
-
-
-
1Loss-
VCP-
-
-
-
5Amp-
VCPIP1-
-
-
-
1Loss-
VDR-
-
-
-
3Gain-
VEGFC-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
1Loss-
VLDLR-
-
-
-
5Amp-
VMAC-
-
-
-
3Gain-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VOPP1-
-
-
-
3Gain-
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS13A-
-
-
-
1Loss-
VPS13B-
-
-
-
1Loss-
VPS13C-
-
-
-
1Loss-
VPS13D-
-
-
-
1Loss-
VPS16-
-
-
-
3Gain-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS35-
-
-
-
1Loss-
VPS37B-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS8p.R187G
Missense
SNP
0.167
4Gain-
VPS9D1-
-
-
-
1Loss-
VRK3-
-
-
-
1Loss-
VSIG10-
-
-
-
3Gain-
VSIG10L-
-
-
-
1Loss-
VSTM2A-
-
-
-
3Gain-
VSTM2B-
-
-
-
3Gain-
VSTM2L-
-
-
-
1Loss-
VSX1-
-
-
-
3Gain-
VTCN1-
-
-
-
1Loss-
VTN-
-
-
-
6Amp-
VWA1-
-
-
-
1Loss-
VWA3Bp.S689I
Missense
SNP
0.495
2--
VWA5B1-
-
-
-
1Loss-
VWA5B2-
-
-
-
4Gain-
VWC2-
-
-
-
3Gain-
VWC2L-
-
-
-
1Loss-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
3Gain-
VXN-
-
-
-
1Loss-
WAC-
-
-
-
1Loss-
WARS2-
-
-
-
1Loss-
WASF2-
-
-
-
1Loss-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WBP11-
-
-
-
3Gain-
WBP2NL-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDR12-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR18-
-
-
-
3Gain-
WDR3-
-
-
-
1Loss-
WDR34-
-
-
-
3Gain-
WDR37p.S10L
Missense
SNP
0.986
1Loss-
WDR38-
-
-
-
3Gain-
WDR47-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
11Amp-
WDR5-
-
-
-
3Gain-
WDR53-
-
-
-
4Gain-
WDR59-
-
-
-
1Loss-
WDR5B-
-
-
-
4Gain-
WDR6-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR63-
-
-
-
1Loss-
WDR66-
-
-
-
3Gain-
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR77-
-
-
-
1Loss-
WDR78-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR83-
-
-
-
3Gain-
WDR83OS-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR87-
-
-
-
3Gain-
WDR88-
-
-
-
3Gain-
WDR91-
-
-
-
9Amp-
WDTC1-
-
-
-
1Loss-
WEE2-
-
-
-
3Gain-
WFDC1-
-
-
-
1Loss-
WFDC10A-
-
-
-
1Loss-
WFDC10B-
-
-
-
1Loss-
WFDC11-
-
-
-
1Loss-
WFDC12-
-
-
-
1Loss-
WFDC13-
-
-
-
1Loss-
WFDC2-
-
-
-
1Loss-
WFDC3-
-
-
-
1Loss-
WFDC5-
-
-
-
1Loss-
WFDC6-
-
-
-
1Loss-
WFDC8-
-
-
-
1Loss-
WFDC9-
-
-
-
1Loss-
WIF1-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP2-
-
-
-
1Loss-
WIZ-
-
-
-
4Gain-
WLS-
-
-
-
1Loss-
WNK1-
-
-
-
3Gain-
WNT1-
-
-
-
3Gain-
WNT10A-
-
-
-
1Loss-
WNT10B-
-
-
-
3Gain-
WNT2B-
-
-
-
1Loss-
WNT4-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT5B-
-
-
-
3Gain-
WNT6-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WNT7B-
-
-
-
1Loss-
WRAP73-
-
-
-
1Loss-
WSB1-
-
-
-
6Amp-
WSB2-
-
-
-
3Gain-
WSCD2-
-
-
-
3Gain-
WWC2-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
WWTR1-
-
-
-
4Gain-
XAB2-
-
-
-
3Gain-
XBP1-
-
-
-
3Gain-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XIRP2p.M176L
p.E1256V
Missense
Missense
SNP
SNP
0.421
0.250
2--
XKR3-
-
-
-
3Gain-
XKR4-
-
-
-
1Loss-
XKR8-
-
-
-
1Loss-
XKR9-
-
-
-
1Loss-
XPC-
-
-
-
1Loss-
XPNPEP3-
-
-
-
1Loss-
XPOT-
-
-
-
3Gain-
XRCC1-
-
-
-
1Loss-
XRCC2p.L146F
Missense
SNP
0.593
3Gain-
XRCC5-
-
-
-
1Loss-
XRCC6-
-
-
-
1Loss-
XRN1-
-
-
-
4Gain-
XRN2-
-
-
-
3Gain-
XXYLT1-
-
-
-
4Gain-
XYLB-
-
-
-
1Loss-
YAE1-
-
-
-
3Gain-
YAF2-
-
-
-
3Gain-
YARS-
-
-
-
1Loss-
YARS2-
-
-
-
3Gain-
YBX1-
-
-
-
1Loss-
YBX3-
-
-
-
3Gain-
YDJC-
-
-
-
3Gain-
YEATS2-
-
-
-
4Gain-
YEATS4-
-
-
-
3Gain-
YES1-
-
-
-
3Gain-
YIF1B-
-
-
-
3Gain-
YIPF1-
-
-
-
1Loss-
YIPF2-
-
-
-
3Gain-
YJEFN3-
-
-
-
5Amp-
YJU2-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YME1L1-
-
-
-
1Loss-
YPEL1-
-
-
-
3Gain-
YRDC-
-
-
-
1Loss-
YTHDC1-
-
-
-
1Loss-
YTHDF2-
-
-
-
1Loss-
YTHDF3-
-
-
-
1Loss-
YWHAB-
-
-
-
1Loss-
YWHAH-
-
-
-
3Gain-
YWHAZ-
-
-
-
1Loss-
Z82190.2-
-
-
-
3Gain-
Z83844.1-
-
-
-
5Amp-
Z83844.3-
-
-
-
5Amp-
Z84492.1-
-
-
-
1Loss-
Z98752.3-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZBBXp.D601E
p.A285E
Missense
Missense
SNP
SNP
0.652
0.137
11Amp-
ZBED2-
-
-
-
4Gain-
ZBED4-
-
-
-
1Loss-
ZBED6CL-
-
-
-
3Gain-
ZBTB10-
-
-
-
1Loss-
ZBTB11-
-
-
-
4Gain-
ZBTB14-
-
-
-
3Gain-
ZBTB17-
-
-
-
1Loss-
ZBTB20-
-
-
-
4Gain-
ZBTB26-
-
-
-
3Gain-
ZBTB34-
-
-
-
3Gain-
ZBTB38-
-
-
-
4Gain-
ZBTB39-
-
-
-
3Gain-
ZBTB40-
-
-
-
1Loss-
ZBTB43-
-
-
-
3Gain-
ZBTB47-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZBTB5-
-
-
-
5Amp-
ZBTB6-
-
-
-
3Gain-
ZBTB7A-
-
-
-
3Gain-
ZBTB7C-
-
-
-
3Gain-
ZBTB8A-
-
-
-
1Loss-
ZBTB8B-
-
-
-
1Loss-
ZBTB8OS-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
1Loss-
ZC3H10-
-
-
-
3Gain-
ZC3H12A-
-
-
-
1Loss-
ZC3H13p.R1007L
Missense
SNP
1.000
2--
ZC3H18-
-
-
-
1Loss-
ZC3H3p.A52G
Missense
SNP
0.657
2--
ZC3H7B-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
7Amp-
ZC3HAV1L-
-
-
-
7Amp-
ZCCHC14-
-
-
-
1Loss-
ZCCHC17-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCCHC7-
-
-
-
5Amp-
ZCCHC8-
-
-
-
3Gain-
ZCRB1-
-
-
-
3Gain-
ZCWPW2-
-
-
-
1Loss-
ZDBF2-
-
-
-
1Loss-
ZDHHC1-
-
-
-
1Loss-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC12-
-
-
-
3Gain-
ZDHHC17-
-
-
-
3Gain-
ZDHHC18-
-
-
-
1Loss-
ZDHHC19-
-
-
-
4Gain-
ZDHHC21-
-
-
-
5Amp-
ZDHHC23-
-
-
-
4Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
3Gain-
ZEB1-
-
-
-
1Loss-
ZER1-
-
-
-
3Gain-
ZFAND1-
-
-
-
1Loss-
ZFAND2A-
-
-
-
3Gain-
ZFAND2B-
-
-
-
1Loss-
ZFAND5-
-
-
-
1Loss-
ZFC3H1-
-
-
-
3Gain-
ZFHX3-
-
-
-
1Loss-
ZFHX4-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP30-
-
-
-
3Gain-
ZFP36-
-
-
-
3Gain-
ZFP42-
-
-
-
1Loss-
ZFP64-
-
-
-
1Loss-
ZFP69-
-
-
-
1Loss-
ZFP69B-
-
-
-
1Loss-
ZFP82-
-
-
-
3Gain-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFPM2-
-
-
-
1Loss-
ZFR-
-
-
-
3Gain-
ZFR2-
-
-
-
3Gain-
ZFYVE9-
-
-
-
1Loss-
ZGLP1-
-
-
-
3Gain-
ZGRF1-
-
-
-
1Loss-
ZHX2p.V63L
Missense
SNP
0.615
2--
ZHX3-
-
-
-
1Loss-
ZIC1-
-
-
-
4Gain-
ZIC4-
-
-
-
4Gain-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMAT3-
-
-
-
4Gain-
ZMAT5-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
1Loss-
ZMYM1-
-
-
-
1Loss-
ZMYM4-
-
-
-
1Loss-
ZMYM6-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND11-
-
-
-
1Loss-
ZMYND12-
-
-
-
1Loss-
ZMYND19-
-
-
-
3Gain-
ZMYND8-
-
-
-
1Loss-
ZNF10-
-
-
-
3Gain-
ZNF101-
-
-
-
4Gain-
ZNF107-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF121-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF133-
-
-
-
3Gain-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF136-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF14-
-
-
-
4Gain-
ZNF140-
-
-
-
3Gain-
ZNF142-
-
-
-
1Loss-
ZNF148-
-
-
-
4Gain-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF177-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF20-
-
-
-
3Gain-
ZNF211-
-
-
-
1Loss-
ZNF212-
-
-
-
5Amp-
ZNF217-
-
-
-
1Loss-
ZNF221-
-
-
-
1Loss-
ZNF222p.X88_splice
Splice_Site
SNP
0.539
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234-
-
-
-
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
3Gain-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF253-
-
-
-
4Gain-
ZNF256-
-
-
-
1Loss-
ZNF26-
-
-
-
3Gain-
ZNF260-
-
-
-
3Gain-
ZNF264-
-
-
-
1Loss-
ZNF266-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF274-
-
-
-
1Loss-
ZNF276-
-
-
-
1Loss-
ZNF28-
-
-
-
1Loss-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF280D-
-
-
-
1Loss-
ZNF282-
-
-
-
5Amp-
ZNF283-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF304-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF317p.P151H
Missense
SNP
0.375
3Gain-
ZNF319-
-
-
-
1Loss-
ZNF320-
-
-
-
1Loss-
ZNF326-
-
-
-
1Loss-
ZNF329-
-
-
-
1Loss-
ZNF330-
-
-
-
1Loss-
ZNF333-
-
-
-
4Gain-
ZNF334-
-
-
-
1Loss-
ZNF335-
-
-
-
1Loss-
ZNF337-
-
-
-
3Gain-
ZNF33A-
-
-
-
1Loss-
ZNF341p.A354S
Missense
SNP
0.329
2--
ZNF343-
-
-
-
3Gain-
ZNF345-
-
-
-
3Gain-
ZNF347-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF350-
-
-
-
1Loss-
ZNF358-
-
-
-
3Gain-
ZNF362-
-
-
-
1Loss-
ZNF365p.V231L
Missense
SNP
0.692
2--
ZNF37A-
-
-
-
1Loss-
ZNF382-
-
-
-
3Gain-
ZNF383-
-
-
-
3Gain-
ZNF384-
-
-
-
3Gain-
ZNF385A-
-
-
-
3Gain-
ZNF385D-
-
-
-
1Loss-
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF398-
-
-
-
5Amp-
ZNF404-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF414-
-
-
-
3Gain-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF420-
-
-
-
3Gain-
ZNF423p.S206T
Missense
SNP
0.525
1Loss-
ZNF425-
-
-
-
5Amp-
ZNF426-
-
-
-
3Gain-
ZNF428-
-
-
-
1Loss-
ZNF432-
-
-
-
1Loss-
ZNF433-
-
-
-
3Gain-
ZNF436-
-
-
-
1Loss-
ZNF438-
-
-
-
1Loss-
ZNF439-
-
-
-
3Gain-
ZNF44-
-
-
-
3Gain-
ZNF440-
-
-
-
3Gain-
ZNF441-
-
-
-
3Gain-
ZNF442-
-
-
-
3Gain-
ZNF443-
-
-
-
3Gain-
ZNF445-
-
-
-
1Loss-
ZNF45-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF461-
-
-
-
3Gain-
ZNF467-
-
-
-
5Amp-
ZNF468-
-
-
-
1Loss-
ZNF469-
-
-
-
1Loss-
ZNF473-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF480-
-
-
-
1Loss-
ZNF486-
-
-
-
4Gain-
ZNF490-
-
-
-
3Gain-
ZNF491-
-
-
-
3Gain-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
4Gain-
ZNF507-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF519-
-
-
-
3Gain-
ZNF521-
-
-
-
3Gain-
ZNF525-
-
-
-
1Loss-
ZNF526-
-
-
-
1Loss-
ZNF527-
-
-
-
3Gain-
ZNF528-
-
-
-
1Loss-
ZNF529-
-
-
-
3Gain-
ZNF530-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF534-
-
-
-
1Loss-
ZNF536p.S328*
Nonsense
SNP
0.498
3Gain-
ZNF540-
-
-
-
3Gain-
ZNF543-
-
-
-
1Loss-
ZNF546-
-
-
-
3Gain-
ZNF547-
-
-
-
1Loss-
ZNF548p.D146Y
Missense
SNP
0.440
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
3Gain-
ZNF555-
-
-
-
3Gain-
ZNF556-
-
-
-
3Gain-
ZNF557-
-
-
-
3Gain-
ZNF558-
-
-
-
3Gain-
ZNF559-
-
-
-
3Gain-
ZNF559-ZNF177-
-
-
-
3Gain-
ZNF560-
-
-
-
3Gain-
ZNF561-
-
-
-
3Gain-
ZNF562-
-
-
-
3Gain-
ZNF563-
-
-
-
3Gain-
ZNF564-
-
-
-
3Gain-
ZNF566-
-
-
-
3Gain-
ZNF567-
-
-
-
3Gain-
ZNF568-
-
-
-
3Gain-
ZNF569-
-
-
-
3Gain-
ZNF57-
-
-
-
3Gain-
ZNF570-
-
-
-
3Gain-
ZNF571-
-
-
-
3Gain-
ZNF573-
-
-
-
3Gain-
ZNF574-
-
-
-
1Loss-
ZNF575-
-
-
-
1Loss-
ZNF576-
-
-
-
1Loss-
ZNF577-
-
-
-
1Loss-
ZNF578-
-
-
-
1Loss-
ZNF585A-
-
-
-
3Gain-
ZNF585B-
-
-
-
3Gain-
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF589-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF605-
-
-
-
3Gain-
ZNF606-
-
-
-
1Loss-
ZNF607-
-
-
-
3Gain-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614-
-
-
-
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF622-
-
-
-
3Gain-
ZNF625-
-
-
-
3Gain-
ZNF625-ZNF20-
-
-
-
3Gain-
ZNF627-
-
-
-
3Gain-
ZNF639-
-
-
-
4Gain-
ZNF641-
-
-
-
3Gain-
ZNF644-
-
-
-
1Loss-
ZNF649-
-
-
-
1Loss-
ZNF653-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF658-
-
-
-
5Amp-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF664-
-
-
-
3Gain-
ZNF665-
-
-
-
1Loss-
ZNF671-
-
-
-
1Loss-
ZNF677-
-
-
-
1Loss-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF682-
-
-
-
4Gain-
ZNF683-
-
-
-
1Loss-
ZNF684-
-
-
-
1Loss-
ZNF69-
-
-
-
3Gain-
ZNF691-
-
-
-
1Loss-
ZNF697-
-
-
-
1Loss-
ZNF699-
-
-
-
3Gain-
ZNF70-
-
-
-
3Gain-
ZNF700-
-
-
-
3Gain-
ZNF701-
-
-
-
1Loss-
ZNF704-
-
-
-
1Loss-
ZNF705A-
-
-
-
3Gain-
ZNF706-
-
-
-
1Loss-
ZNF709-
-
-
-
3Gain-
ZNF71-
-
-
-
1Loss-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF717-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF74-
-
-
-
3Gain-
ZNF740-
-
-
-
3Gain-
ZNF746-
-
-
-
5Amp-
ZNF749-
-
-
-
1Loss-
ZNF761-
-
-
-
1Loss-
ZNF763-
-
-
-
3Gain-
ZNF765-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF77-
-
-
-
3Gain-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF775-
-
-
-
3Gain-
ZNF776-
-
-
-
1Loss-
ZNF777-
-
-
-
5Amp-
ZNF778-
-
-
-
1Loss-
ZNF780A-
-
-
-
3Gain-
ZNF780B-
-
-
-
3Gain-
ZNF781-
-
-
-
3Gain-
ZNF783-
-
-
-
5Amp-
ZNF786-
-
-
-
5Amp-
ZNF79-
-
-
-
3Gain-
ZNF790-
-
-
-
3Gain-
ZNF791-
-
-
-
3Gain-
ZNF793-
-
-
-
3Gain-
ZNF799-
-
-
-
3Gain-
ZNF80-
-
-
-
4Gain-
ZNF804A-
-
-
-
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF821-
-
-
-
1Loss-
ZNF823-
-
-
-
3Gain-
ZNF827-
-
-
-
1Loss-
ZNF829-
-
-
-
3Gain-
ZNF83-
-
-
-
1Loss-
ZNF831p.W327C
Missense
SNP
0.390
2--
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF84-
-
-
-
3Gain-
ZNF841-
-
-
-
1Loss-
ZNF844-
-
-
-
3Gain-
ZNF845-
-
-
-
1Loss-
ZNF846-
-
-
-
3Gain-
ZNF850-
-
-
-
3Gain-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
1Loss-
ZNF862-
-
-
-
5Amp-
ZNF878-
-
-
-
3Gain-
ZNF880-
-
-
-
1Loss-
ZNF888-
-
-
-
1Loss-
ZNF891-
-
-
-
3Gain-
ZNF90-
-
-
-
4Gain-
ZNF93-
-
-
-
4Gain-
ZNF99p.A775D
Missense
SNP
0.523
2--
ZNFX1-
-
-
-
1Loss-
ZNHIT6-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
3Gain-
ZNRF4-
-
-
-
3Gain-
ZP2p.S21I
Missense
SNP
0.350
2--
ZPBP-
-
-
-
3Gain-
ZPLD1-
-
-
-
4Gain-
ZRANB2-
-
-
-
1Loss-
ZSCAN1-
-
-
-
1Loss-
ZSCAN16p.M141T
Missense
SNP
0.652
2--
ZSCAN18-
-
-
-
1Loss-
ZSCAN20-
-
-
-
1Loss-
ZSCAN30-
-
-
-
3Gain-
ZSCAN4-
-
-
-
1Loss-
ZSWIM1-
-
-
-
1Loss-
ZSWIM3-
-
-
-
1Loss-
ZSWIM4-
-
-
-
3Gain-
ZSWIM5-
-
-
-
1Loss-
ZXDC-
-
-
-
4Gain-
ZYG11A-
-
-
-
1Loss-
ZYG11B-
-
-
-
1Loss-
ZYX-
-
-
-
5Amp-