PDMR-299254~011-R~QP3J47-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A3GALT2-
-
-
-
5Amp-
A4GALT-
-
-
-
3Gain-
AADAT-
-
-
-
1Loss-
AAMDC-
-
-
-
1Loss-
AARD-
-
-
-
1Loss-
AARS-
-
-
-
1Loss-
AASDH-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
AATF-
-
-
-
1Loss-
ABAT-
-
-
-
1Loss-
ABCA13p.G3052E
Missense
SNP
0.434
2--
ABCA3-
-
-
-
1Loss-
ABCB10-
-
-
-
3Gain-
ABCC1-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC4-
-
-
-
3Gain-
ABCC5-
-
-
-
3Gain-
ABCC6p.L63F
Missense
SNP
0.375
1Loss-
ABCE1-
-
-
-
1Loss-
ABCF3-
-
-
-
3Gain-
ABCG1p.P87F
Missense
DNP
0.568
1Loss-
ABCG2-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABHD11-
-
-
-
1Loss-
ABHD13-
-
-
-
3Gain-
ABHD14A-
-
-
-
3Gain-
ABHD14A-ACY1-
-
-
-
3Gain-
ABHD14B-
-
-
-
3Gain-
ABHD15-
-
-
-
1Loss-
ABHD18-
-
-
-
1Loss-
ABHD5-
-
-
-
3Gain-
ABHD6-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
ABLIM2-
-
-
-
1Loss-
ABLIM3p.S469F
Missense
SNP
1.000
2--
ABRACL-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
AC001226.2-
-
-
-
4Gain-
AC002094.3-
-
-
-
1Loss-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004754.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
3Gain-
AC004997.1-
-
-
-
3Gain-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005697.1-
-
-
-
1Loss-
AC005726.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
3Gain-
AC006254.1-
-
-
-
3Gain-
AC006518.7-
-
-
-
1Loss-
AC007326.4-
-
-
-
3Gain-
AC007731.5-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC008403.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
3Gain-
AC008687.1-
-
-
-
1Loss-
AC008687.4-
-
-
-
1Loss-
AC008687.8-
-
-
-
1Loss-
AC008750.8-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC010326.2-
-
-
-
1Loss-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010619.1-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011330.3-
-
-
-
1Loss-
AC011473.4-
-
-
-
1Loss-
AC011530.1-
-
-
-
1Loss-
AC012184.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
3Gain-
AC012651.1-
-
-
-
1Loss-
AC015688.4-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
1Loss-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC022384.1-
-
-
-
3Gain-
AC022414.1-
-
-
-
3Gain-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
3Gain-
AC090004.1-
-
-
-
3Gain-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
3Gain-
AC091551.1-
-
-
-
1Loss-
AC092017.3-
-
-
-
3Gain-
AC092042.3-
-
-
-
3Gain-
AC092073.1-
-
-
-
3Gain-
AC092143.1-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093323.1-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC096887.1-
-
-
-
3Gain-
AC097634.4-
-
-
-
3Gain-
AC097636.1-
-
-
-
3Gain-
AC097637.1-
-
-
-
3Gain-
AC098484.3-
-
-
-
3Gain-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
3Gain-
AC098850.3-
-
-
-
1Loss-
AC099489.1-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
3Gain-
AC104452.1-
-
-
-
3Gain-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
3Gain-
AC113348.2-
-
-
-
1Loss-
AC114490.2-
-
-
-
3Gain-
AC114490.3-
-
-
-
3Gain-
AC118470.1-
-
-
-
3Gain-
AC119674.2-
-
-
-
3Gain-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
3Gain-
AC126283.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC134669.1-
-
-
-
1Loss-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC138647.1-
-
-
-
1Loss-
AC138811.2-
-
-
-
1Loss-
AC138894.1-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
AC140504.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC253536.7-
-
-
-
3Gain-
ACAA1-
-
-
-
3Gain-
ACAA2-
-
-
-
1Loss-
ACACA-
-
-
-
1Loss-
ACAD8-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACAT1-
-
-
-
1Loss-
ACAT2-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACD-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
3Gain-
ACOD1-
-
-
-
4Gain-
ACOT11-
-
-
-
3Gain-
ACOT12-
-
-
-
3Gain-
ACOX2-
-
-
-
3Gain-
ACOX3-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACR-
-
-
-
3Gain-
ACRV1-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL6p.G641E
Missense
SNP
1.000
2--
ACSM1-
-
-
-
1Loss-
ACSM2Ap.W349*
Nonsense
SNP
0.267
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACSS3p.P532S
Missense
SNP
0.441
2--
ACTA1-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
3Gain-
ACTC1-
-
-
-
3Gain-
ACTG2p.S369F
Missense
SNP
0.432
2--
ACTN2-
-
-
-
3Gain-
ACTN3-
-
-
-
1Loss-
ACTR8-
-
-
-
3Gain-
ACVR2B-
-
-
-
3Gain-
ACY1-
-
-
-
3Gain-
ACY3-
-
-
-
1Loss-
ADA2-
-
-
-
3Gain-
ADAD1-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAM29-
-
-
-
1Loss-
ADAMTS12-
-
-
-
3Gain-
ADAMTS14p.P89S
Missense
SNP
0.392
2--
ADAMTS15-
-
-
-
1Loss-
ADAMTS16-
-
-
-
3Gain-
ADAMTS18p.G467E
Missense
SNP
1.000
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS3-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS6-
-
-
-
3Gain-
ADAMTS7-
-
-
-
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAP1-
-
-
-
3Gain-
ADAP2-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADARB2p.Q343*
Nonsense
SNP
0.418
2--
ADAT1-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCY1p.S706F
Missense
SNP
0.535
2--
ADCY10-
-
-
-
3Gain-
ADCY2-
-
-
-
3Gain-
ADCY4p.C873S
Missense
SNP
0.607
2--
ADCY7-
-
-
-
1Loss-
ADCY8p.L196F
Missense
SNP
0.629
2--
ADCY9-
-
-
-
1Loss-
ADCYAP1-
-
-
-
1Loss-
ADD1-
-
-
-
1Loss-
ADGB-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRB1-
-
-
-
1Loss-
ADGRB2p.A1386S
Missense
SNP
0.417
3Gain-
ADGRE3p.G229E
Missense
SNP
0.546
2--
ADGRG4p.G2602E
Missense
SNP
1.000
NDND-
ADGRG6-
-
-
-
1Loss-
ADGRL3-
-
-
-
1Loss-
ADGRV1-
-
-
-
3Gain-
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADIPOQ-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADM2-
-
-
-
3Gain-
ADM5-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADORA1-
-
-
-
3Gain-
ADORA2A-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADPRHL1-
-
-
-
3Gain-
ADPRHL2-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
ADSS-
-
-
-
3Gain-
ADSSL1-
-
-
-
3Gain-
AFAP1-
-
-
-
1Loss-
AFDN-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFG1L-
-
-
-
0Del-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGBL3-
-
-
-
3Gain-
AGBL4-
-
-
-
3Gain-
AGGF1-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGO1-
-
-
-
3Gain-
AGO2p.P731S
Missense
SNP
0.392
1Loss-
AGO3-
-
-
-
3Gain-
AGO4-
-
-
-
3Gain-
AGPAT4p.G61D
Missense
SNP
1.000
1Loss-
AGPAT5-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AGXT2-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHI1-
-
-
-
1Loss-
AHNAK-
-
-
-
1Loss-
AHNAK2-
-
-
-
3Gain-
AHRR-
-
-
-
3Gain-
AHSG-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIFM3-
-
-
-
3Gain-
AIG1-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIP-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AK2-
-
-
-
5Amp-
AK3-
-
-
-
1Loss-
AK4-
-
-
-
3Gain-
AK6-
-
-
-
3Gain-
AK9-
-
-
-
1Loss-
AKAIN1-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
3Gain-
AKAP12-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKIRIN1-
-
-
-
3Gain-
AKR1A1-
-
-
-
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKR1E2p.D136N
Missense
SNP
0.591
2--
AKT1-
-
-
-
3Gain-
AKT3-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL022318.4-
-
-
-
3Gain-
AL031315.1-
-
-
-
1Loss-
AL031708.1-
-
-
-
1Loss-
AL033529.1-
-
-
-
5Amp-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096711.2-
-
-
-
0Del-
AL117339.5-
-
-
-
1Loss-
AL117348.2-
-
-
-
3Gain-
AL132671.2-
-
-
-
0Del-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
3Gain-
AL159163.1-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL357673.1-
-
-
-
3Gain-
AL358075.4-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
0Del-
AL365214.3-
-
-
-
0Del-
AL445238.1-
-
-
-
5Amp-
AL445685.3-
-
-
-
3Gain-
AL445989.1-
-
-
-
5Amp-
AL451062.3-
-
-
-
3Gain-
AL512506.3-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
3Gain-
AL672043.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
3Gain-
ALAS1-
-
-
-
3Gain-
ALB-
-
-
-
1Loss-
ALDH16A1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALDOC-
-
-
-
1Loss-
ALG1-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG12-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALG6-
-
-
-
3Gain-
ALG8-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKAL1-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPK3p.G902E
Missense
SNP
0.669
2--
ALPP-
-
-
-
1Loss-
ALS2CL-
-
-
-
3Gain-
AMACR-
-
-
-
3Gain-
AMBNp.E319K
Missense
SNP
1.000
1Loss-
AMD1-
-
-
-
1Loss-
AMDHD2-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
AMIGO3-
-
-
-
3Gain-
AMN-
-
-
-
3Gain-
AMOTL1-
-
-
-
1Loss-
AMT-
-
-
-
3Gain-
AMTN-
-
-
-
1Loss-
AMY2Bp.R210K
Missense
SNP
1.000
2--
AMZ1-
-
-
-
3Gain-
ANAPC10-
-
-
-
1Loss-
ANAPC15-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANGEL2-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPTL1-
-
-
-
3Gain-
ANGPTL3-
-
-
-
3Gain-
ANK1p.D124N
Missense
SNP
0.583
2--
ANK2-
-
-
-
1Loss-
ANKDD1B-
-
-
-
3Gain-
ANKEF1p.D481G
Missense
SNP
0.498
2--
ANKFN1p.L167I
Missense
SNP
0.411
2--
ANKH-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKRA2-
-
-
-
3Gain-
ANKRD10-
-
-
-
3Gain-
ANKRD11-
-
-
-
1Loss-
ANKRD13B-
-
-
-
1Loss-
ANKRD13D-
-
-
-
1Loss-
ANKRD17-
-
-
-
1Loss-
ANKRD27-
-
-
-
3Gain-
ANKRD28-
-
-
-
3Gain-
ANKRD31p.Q1249*
p.N1248I
Nonsense
Missense
SNP
SNP
0.747
0.726
3Gain-
ANKRD33B-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
3Gain-
ANKRD34C-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD37-
-
-
-
1Loss-
ANKRD42-
-
-
-
1Loss-
ANKRD45-
-
-
-
3Gain-
ANKRD49-
-
-
-
1Loss-
ANKRD50-
-
-
-
1Loss-
ANKRD54-
-
-
-
3Gain-
ANKRD55-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD63-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
3Gain-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANKS6p.G543E
Missense
SNP
0.540
2--
ANO1-
-
-
-
1Loss-
ANO10-
-
-
-
3Gain-
ANO4p.R916Q
Missense
SNP
0.476
2--
ANP32E-
-
-
-
3Gain-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA10-
-
-
-
1Loss-
ANXA2R-
-
-
-
3Gain-
ANXA3-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AP000350.4-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP001931.1-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1B1-
-
-
-
3Gain-
AP1G1-
-
-
-
1Loss-
AP2A1p.S238F
Missense
SNP
0.670
2--
AP2B1-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP2S1-
-
-
-
1Loss-
AP3B1-
-
-
-
3Gain-
AP3D1p.S991F
Missense
SNP
0.404
2--
AP4E1-
-
-
-
1Loss-
AP5B1-
-
-
-
1Loss-
AP5Z1-
-
-
-
3Gain-
APBA2-
-
-
-
3Gain-
APBB1p.P246L
Missense
SNP
0.484
2--
APCp.K1007*
Nonsense
SNP
1.000
2--
APCS-
-
-
-
3Gain-
APEH-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APLNR-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3H-
-
-
-
3Gain-
APOBEC4-
-
-
-
3Gain-
APOBR-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APOPT1-
-
-
-
3Gain-
APPL1-
-
-
-
3Gain-
APRT-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
AQP11-
-
-
-
1Loss-
AQP8-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
3Gain-
ARC-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF4-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGAP1p.S98F
Missense
SNP
0.506
2--
ARFGAP3-
-
-
-
3Gain-
ARFGEF3-
-
-
-
1Loss-
ARFIP1-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARGLU1-
-
-
-
3Gain-
ARHGAP10-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
3Gain-
ARHGAP11B-
-
-
-
3Gain-
ARHGAP17-
-
-
-
1Loss-
ARHGAP18-
-
-
-
0Del-
ARHGAP20-
-
-
-
1Loss-
ARHGAP22p.S447F
Missense
DNP
0.358
1Loss-
ARHGAP23-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP28-
-
-
-
1Loss-
ARHGAP30p.E1058K
Missense
SNP
0.594
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP35-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGAP8-
-
-
-
3Gain-
ARHGDIG-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF28-
-
-
-
3Gain-
ARHGEF3-
-
-
-
3Gain-
ARHGEF38-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARHGEF7-
-
-
-
3Gain-
ARID1Ap.Q1458*
Nonsense
SNP
0.311
2--
ARID1B-
-
-
-
1Loss-
ARID4B-
-
-
-
3Gain-
ARID5Ap.P544S
Missense
DNP
0.472
2--
ARIH2-
-
-
-
3Gain-
ARIH2OS-
-
-
-
3Gain-
ARL13B-
-
-
-
3Gain-
ARL15-
-
-
-
3Gain-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL5C-
-
-
-
1Loss-
ARL6IP1-
-
-
-
1Loss-
ARL6IP5-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARL8B-
-
-
-
3Gain-
ARL9-
-
-
-
1Loss-
ARMC2-
-
-
-
1Loss-
ARMC9-
-
-
-
1Loss-
ARMH1-
-
-
-
3Gain-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARPC4-
-
-
-
3Gain-
ARPC4-TTLL3-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
3Gain-
ARRB1-
-
-
-
1Loss-
ARRDC3-
-
-
-
3Gain-
ARSA-
-
-
-
3Gain-
ARSB-
-
-
-
3Gain-
ARSFp.E252K
Missense
SNP
1.000
NDND-
ARSJ-
-
-
-
1Loss-
ARSK-
-
-
-
3Gain-
ART3-
-
-
-
1Loss-
ARTN-
-
-
-
3Gain-
ARV1-
-
-
-
3Gain-
ARVCF-
-
-
-
3Gain-
ASB14-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB5-
-
-
-
1Loss-
ASCC2-
-
-
-
3Gain-
ASCC3-
-
-
-
0Del-
ASCL2p.G19D
Missense
SNP
0.571
2--
ASF1A-
-
-
-
0Del-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASIC2-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASPG-
-
-
-
3Gain-
ASPHD2-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASRGL1-
-
-
-
1Loss-
ASTN1p.G524R
Missense
SNP
0.362
2--
ASUNp.E282K
Missense
DNP
0.370
NDND-
ASZ1-
-
-
-
3Gain-
ATAD5-
-
-
-
1Loss-
ATAT1p.R28*
Nonsense
DNP
0.543
2--
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATF6Bp.L698P
Missense
SNP
0.513
2--
ATF7IP2-
-
-
-
1Loss-
ATG10-
-
-
-
3Gain-
ATG16L1-
-
-
-
1Loss-
ATG2A-
-
-
-
1Loss-
ATG4C-
-
-
-
3Gain-
ATG5-
-
-
-
0Del-
ATG7-
-
-
-
3Gain-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATOH1-
-
-
-
1Loss-
ATOH8p.L233F
Missense
SNP
0.466
2--
ATP10A-
-
-
-
3Gain-
ATP11A-
-
-
-
3Gain-
ATP11B-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1A2p.S413F
Missense
DNP
0.542
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP1B3p.Q166*
Nonsense
SNP
0.573
2--
ATP2A1-
-
-
-
1Loss-
ATP2B2-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP2C2-
-
-
-
1Loss-
ATP4B-
-
-
-
3Gain-
ATP5ME-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5MGL-
-
-
-
3Gain-
ATP5MPL-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0B-
-
-
-
3Gain-
ATP6V0C-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0E1-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP6V1H-
-
-
-
1Loss-
ATP7B-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B4-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATPAF1-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
3Gain-
ATRNL1p.R766K
Missense
SNP
0.628
2--
ATXN1p.S262F
Missense
SNP
0.489
2--
ATXN10-
-
-
-
3Gain-
ATXN1L-
-
-
-
1Loss-
ATXN2L-
-
-
-
1Loss-
ATXN7-
-
-
-
3Gain-
AUP1p.G128S
Missense
DNP
0.517
2--
AURKB-
-
-
-
1Loss-
AURKC-
-
-
-
1Loss-
AUTS2p.P1107S
Missense
SNP
0.288
1Loss-
AVEN-
-
-
-
3Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AXIN1-
-
-
-
1Loss-
AZI2-
-
-
-
3Gain-
AZIN1p.P272L
Missense
SNP
0.694
2--
AZIN2-
-
-
-
5Amp-
B2M-
-
-
-
1Loss-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GALT5-
-
-
-
1Loss-
B3GAT1-
-
-
-
1Loss-
B3GAT3-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT6-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B4GALT2-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
B4GALT7-
-
-
-
1Loss-
B4GAT1-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BACE2-
-
-
-
1Loss-
BAD-
-
-
-
1Loss-
BAG5-
-
-
-
3Gain-
BAHD1-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
3Gain-
BAIAP3-
-
-
-
1Loss-
BANF1-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BAP1-
-
-
-
3Gain-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BATF2-
-
-
-
1Loss-
BATF3-
-
-
-
3Gain-
BAX-
-
-
-
1Loss-
BAZ1B-
-
-
-
1Loss-
BBC3-
-
-
-
1Loss-
BBS1-
-
-
-
1Loss-
BBS12-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAR3p.F224L
Missense
SNP
1.000
2--
BCAT2-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL2L12-
-
-
-
1Loss-
BCL2L13-
-
-
-
3Gain-
BCL6-
-
-
-
3Gain-
BCL6B-
-
-
-
1Loss-
BCL7B-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCLAF1-
-
-
-
1Loss-
BCO1-
-
-
-
1Loss-
BCO2p.P153L
Missense
SNP
1.000
1Loss-
BCR-
-
-
-
3Gain-
BDH1-
-
-
-
3Gain-
BDH2-
-
-
-
1Loss-
BDP1-
-
-
-
3Gain-
BEAN1-
-
-
-
1Loss-
BEGAIN-
-
-
-
3Gain-
BEND3-
-
-
-
0Del-
BEND5-
-
-
-
3Gain-
BEST1-
-
-
-
1Loss-
BEST4-
-
-
-
3Gain-
BFAR-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHLHE40p.P320S
p.P374L
Missense
Missense
SNP
SNP
0.346
0.596
3Gain-
BHMG1-
-
-
-
1Loss-
BHMT-
-
-
-
3Gain-
BHMT2-
-
-
-
3Gain-
BICDL2p.R487C
Missense
SNP
0.330
1Loss-
BICRA-
-
-
-
1Loss-
BID-
-
-
-
3Gain-
BIK-
-
-
-
3Gain-
BIRC8-
-
-
-
1Loss-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLID-
-
-
-
1Loss-
BLMH-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLOC1S6-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
3Gain-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP5p.S256N
Missense
SNP
0.312
2--
BMP8A-
-
-
-
3Gain-
BMP8B-
-
-
-
3Gain-
BMPERp.E472K
Missense
SNP
0.588
2--
BMPR1B-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1-
-
-
-
1Loss-
BOD1L1-
-
-
-
1Loss-
BOD1L2-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BORA-
-
-
-
4Gain-
BORCS6-
-
-
-
1Loss-
BPGM-
-
-
-
3Gain-
BPIFB6p.G84R
Missense
SNP
0.476
2--
BPIFC-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BRAFp.G466E
Missense
SNP
0.416
3Gain-
BRAT1-
-
-
-
3Gain-
BRD1-
-
-
-
3Gain-
BRD7-
-
-
-
1Loss-
BRD9p.P157S
Missense
SNP
0.400
3Gain-
BRF1-
-
-
-
3Gain-
BRICD5-
-
-
-
1Loss-
BRINP2p.E659K
Missense
SNP
0.389
2--
BRINP3p.K541R
Missense
SNP
0.416
3Gain-
BRIX1-
-
-
-
3Gain-
BRK1-
-
-
-
3Gain-
BRMS1-
-
-
-
1Loss-
BROX-
-
-
-
3Gain-
BRPF1-
-
-
-
3Gain-
BRWD1-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSDC1-
-
-
-
3Gain-
BSN-
-
-
-
3Gain-
BSND-
-
-
-
3Gain-
BSPH1-
-
-
-
1Loss-
BST1-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTBD18-
-
-
-
1Loss-
BTBD19p.P179L
Missense
SNP
0.427
3Gain-
BTBD6-
-
-
-
3Gain-
BTC-
-
-
-
1Loss-
BTD-
-
-
-
3Gain-
BTF3-
-
-
-
3Gain-
BTF3L4-
-
-
-
3Gain-
BTG2-
-
-
-
3Gain-
BTG3-
-
-
-
3Gain-
BTG4-
-
-
-
1Loss-
BTNL3p.R281K
Missense
SNP
1.000
1Loss-
BTNL8p.P373S
Missense
SNP
1.000
1Loss-
BTNL9-
-
-
-
1Loss-
BUB1B-
-
-
-
3Gain-
BUB1B-PAK6-
-
-
-
3Gain-
BUD13-
-
-
-
1Loss-
BUD23-
-
-
-
1Loss-
BVES-
-
-
-
0Del-
C10orf53-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf24-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf68-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf80-
-
-
-
1Loss-
C11orf86-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf60p.G219R
Missense
SNP
0.482
2--
C14orf180-
-
-
-
3Gain-
C15orf41-
-
-
-
3Gain-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
3Gain-
C15orf62-
-
-
-
3Gain-
C15orf65-
-
-
-
1Loss-
C16orf45-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf72-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf82p.W106*
Nonsense
SNP
0.342
NDND-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf91-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf50-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf75-
-
-
-
1Loss-
C17orf78-
-
-
-
1Loss-
C17orf98-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf18-
-
-
-
1Loss-
C19orf73-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf109-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf122-
-
-
-
3Gain-
C1orf123-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf185-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf210-
-
-
-
3Gain-
C1orf216-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf50-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1orf87-
-
-
-
3Gain-
C1orf94-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF5-
-
-
-
1Loss-
C1QTNF6-
-
-
-
3Gain-
C1QTNF7-
-
-
-
1Loss-
C1QTNF8-
-
-
-
1Loss-
C21orf91-
-
-
-
3Gain-
C22orf15p.D101N
Missense
SNP
0.582
3Gain-
C22orf23-
-
-
-
3Gain-
C22orf31-
-
-
-
3Gain-
C22orf39-
-
-
-
3Gain-
C22orf42-
-
-
-
3Gain-
C22orf46p.E86K
Missense
SNP
0.574
3Gain-
C2CD2-
-
-
-
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2orf16p.E1273K
Missense
SNP
0.498
2--
C2orf71p.R586K
Missense
SNP
0.528
NDND-
C2orf72-
-
-
-
1Loss-
C2orf80p.H127Y
Missense
SNP
0.466
2--
C3AR1p.S78L
Missense
SNP
0.511
2--
C3orf14-
-
-
-
3Gain-
C3orf18-
-
-
-
3Gain-
C3orf20-
-
-
-
3Gain-
C3orf38-
-
-
-
3Gain-
C3orf49-
-
-
-
3Gain-
C3orf62-
-
-
-
3Gain-
C3orf67-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf84-
-
-
-
3Gain-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf17-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5AR1-
-
-
-
1Loss-
C5AR2-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf30-
-
-
-
3Gain-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf42p.I651V
Missense
SNP
0.557
NDND-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C5orf67-
-
-
-
3Gain-
C6-
-
-
-
3Gain-
C6orf118-
-
-
-
1Loss-
C6orf120-
-
-
-
1Loss-
C6orf203-
-
-
-
0Del-
C6orf58-
-
-
-
0Del-
C7-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8A-
-
-
-
3Gain-
C8B-
-
-
-
3Gain-
C8orf22p.S84L
Missense
SNP
0.625
NDND-
C9-
-
-
-
3Gain-
C9orf66-
-
-
-
1Loss-
C9orf72p.L72F
Missense
SNP
0.432
2--
C9orf92-
-
-
-
1Loss-
CA11-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CAB39-
-
-
-
1Loss-
CABIN1-
-
-
-
3Gain-
CABP1p.E346K
Missense
SNP
0.473
2--
CABP2p.E79K
Missense
SNP
1.000
1Loss-
CABP4-
-
-
-
1Loss-
CABP5-
-
-
-
1Loss-
CABP7-
-
-
-
3Gain-
CABS1-
-
-
-
1Loss-
CACHD1-
-
-
-
3Gain-
CACNA1Cp.R462Q
Missense
SNP
0.451
2--
CACNA1D-
-
-
-
3Gain-
CACNA1E-
-
-
-
3Gain-
CACNA1H-
-
-
-
1Loss-
CACNA1I-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D2-
-
-
-
3Gain-
CACNA2D3-
-
-
-
3Gain-
CACNB1-
-
-
-
1Loss-
CACNG2-
-
-
-
3Gain-
CACNG3-
-
-
-
1Loss-
CADM1-
-
-
-
1Loss-
CADM2-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CADPS-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALB2-
-
-
-
1Loss-
CALD1-
-
-
-
3Gain-
CALHM4-
-
-
-
0Del-
CALHM5-
-
-
-
0Del-
CALHM6-
-
-
-
0Del-
CALM3-
-
-
-
1Loss-
CALN1-
-
-
-
1Loss-
CALU-
-
-
-
3Gain-
CALY-
-
-
-
0Del-
CAMK1-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMK2D-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CAMKV-
-
-
-
3Gain-
CAMP-
-
-
-
3Gain-
CAMSAP2-
-
-
-
3Gain-
CAND2-
-
-
-
3Gain-
CANX-
-
-
-
1Loss-
CAP1-
-
-
-
3Gain-
CAPN1-
-
-
-
1Loss-
CAPN15-
-
-
-
1Loss-
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN5-
-
-
-
1Loss-
CAPN7-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPNS2-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CARD10-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARD8-
-
-
-
1Loss-
CARHSP1-
-
-
-
1Loss-
CARMIL2-
-
-
-
1Loss-
CARNS1-
-
-
-
1Loss-
CARS2-
-
-
-
3Gain-
CARTPT-
-
-
-
3Gain-
CASC4-
-
-
-
1Loss-
CASKIN1-
-
-
-
1Loss-
CASP2-
-
-
-
3Gain-
CASP3-
-
-
-
1Loss-
CASP6-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CASRp.S271F
Missense
SNP
0.719
2--
CAST-
-
-
-
3Gain-
CASTOR1-
-
-
-
3Gain-
CATSPER1-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPERE-
-
-
-
3Gain-
CATSPERZ-
-
-
-
1Loss-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3-
-
-
-
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBR1-
-
-
-
1Loss-
CBR3-
-
-
-
1Loss-
CBR4-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBY1-
-
-
-
3Gain-
CBY3-
-
-
-
1Loss-
CC2D1B-
-
-
-
3Gain-
CC2D2A-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105p.R211K
Missense
SNP
0.510
2--
CCDC110-
-
-
-
1Loss-
CCDC114-
-
-
-
1Loss-
CCDC116p.E194*
Nonsense
SNP
0.393
3Gain-
CCDC117-
-
-
-
3Gain-
CCDC12-
-
-
-
3Gain-
CCDC122-
-
-
-
3Gain-
CCDC125-
-
-
-
3Gain-
CCDC127-
-
-
-
3Gain-
CCDC13-
-
-
-
3Gain-
CCDC134-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC15p.S196L
Missense
SNP
1.000
1Loss-
CCDC152-
-
-
-
3Gain-
CCDC153-
-
-
-
1Loss-
CCDC154-
-
-
-
1Loss-
CCDC155-
-
-
-
1Loss-
CCDC157-
-
-
-
3Gain-
CCDC158-
-
-
-
1Loss-
CCDC163-
-
-
-
3Gain-
CCDC168-
-
-
-
3Gain-
CCDC17-
-
-
-
3Gain-
CCDC170-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC174-
-
-
-
3Gain-
CCDC181p.D214N
p.L92F
Missense
Missense
SNP
SNP
0.565
0.367
3Gain-
CCDC182p.H74Y
Missense
SNP
0.538
2--
CCDC185-
-
-
-
3Gain-
CCDC188-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC24-
-
-
-
3Gain-
CCDC28A-
-
-
-
1Loss-
CCDC28B-
-
-
-
3Gain-
CCDC30-
-
-
-
3Gain-
CCDC32-
-
-
-
3Gain-
CCDC36-
-
-
-
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
3Gain-
CCDC61-
-
-
-
1Loss-
CCDC66-
-
-
-
3Gain-
CCDC68-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
3Gain-
CCDC71Lp.P168S
Missense
DNP
0.559
NDND-
CCDC78-
-
-
-
1Loss-
CCDC8-
-
-
-
1Loss-
CCDC81-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC85C-
-
-
-
3Gain-
CCDC86-
-
-
-
1Loss-
CCDC87-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC9-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCDC9B-
-
-
-
3Gain-
CCK-
-
-
-
3Gain-
CCKAR-
-
-
-
1Loss-
CCL1-
-
-
-
1Loss-
CCL11-
-
-
-
1Loss-
CCL13-
-
-
-
1Loss-
CCL14-
-
-
-
1Loss-
CCL15-
-
-
-
1Loss-
CCL15-CCL14-
-
-
-
1Loss-
CCL16-
-
-
-
1Loss-
CCL18-
-
-
-
1Loss-
CCL2-
-
-
-
1Loss-
CCL23-
-
-
-
1Loss-
CCL28-
-
-
-
3Gain-
CCL3-
-
-
-
1Loss-
CCL3L1-
-
-
-
1Loss-
CCL4-
-
-
-
1Loss-
CCL4L2-
-
-
-
1Loss-
CCL5-
-
-
-
1Loss-
CCL7-
-
-
-
1Loss-
CCL8-
-
-
-
1Loss-
CCNA1p.N49S
Missense
SNP
1.000
2--
CCNA2-
-
-
-
1Loss-
CCNB1-
-
-
-
3Gain-
CCNC-
-
-
-
0Del-
CCND1-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNF-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNH-
-
-
-
3Gain-
CCNI-
-
-
-
1Loss-
CCNO-
-
-
-
3Gain-
CCP110-
-
-
-
1Loss-
CCPG1-
-
-
-
1Loss-
CCR1-
-
-
-
3Gain-
CCR2-
-
-
-
3Gain-
CCR3-
-
-
-
3Gain-
CCR4-
-
-
-
3Gain-
CCR5-
-
-
-
3Gain-
CCR6-
-
-
-
1Loss-
CCR8-
-
-
-
3Gain-
CCR9-
-
-
-
3Gain-
CCRL2-
-
-
-
3Gain-
CCS-
-
-
-
1Loss-
CCSAP-
-
-
-
3Gain-
CCSER1-
-
-
-
1Loss-
CCT3-
-
-
-
3Gain-
CCT5-
-
-
-
3Gain-
CCT6B-
-
-
-
1Loss-
CCT8L2-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD160-
-
-
-
3Gain-
CD163p.E911K
Missense
SNP
0.487
2--
CD164-
-
-
-
1Loss-
CD180-
-
-
-
3Gain-
CD19-
-
-
-
1Loss-
CD1A-
-
-
-
3Gain-
CD1Bp.T183I
Missense
SNP
0.594
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD24-
-
-
-
0Del-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD248-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD300LBp.E63K
Missense
SNP
0.494
2--
CD33-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD37-
-
-
-
1Loss-
CD38-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3EAPp.P288S
Missense
SNP
0.610
2--
CD3G-
-
-
-
1Loss-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD5-
-
-
-
1Loss-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD6-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CD86p.W248*
Nonsense
DNP
0.614
2--
CD93p.A244T
Missense
SNP
0.489
2--
CDAN1-
-
-
-
1Loss-
CDC16-
-
-
-
3Gain-
CDC20-
-
-
-
3Gain-
CDC20B-
-
-
-
3Gain-
CDC25A-
-
-
-
3Gain-
CDC37L1-
-
-
-
1Loss-
CDC40-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
3Gain-
CDC42BPG-
-
-
-
1Loss-
CDC42EP1-
-
-
-
3Gain-
CDC42EP2-
-
-
-
1Loss-
CDC42SE1-
-
-
-
3Gain-
CDC45-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA4-
-
-
-
3Gain-
CDCA5-
-
-
-
1Loss-
CDCA8-
-
-
-
3Gain-
CDCP1-
-
-
-
3Gain-
CDCP2-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH11-
-
-
-
1Loss-
CDH12p.R690C
Missense
SNP
0.536
3Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH24p.P151S
Missense
SNP
0.494
2--
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDH9-
-
-
-
3Gain-
CDHR4-
-
-
-
3Gain-
CDIP1-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK12p.Q1368*
Nonsense
SNP
0.528
2--
CDK13p.S1152F
Missense
SNP
0.429
2--
CDK18-
-
-
-
3Gain-
CDK19-
-
-
-
1Loss-
CDK2AP2-
-
-
-
1Loss-
CDK5R1-
-
-
-
1Loss-
CDK5RAP2p.S1447F
Missense
SNP
0.429
2--
CDK7-
-
-
-
3Gain-
CDKL2-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2C-
-
-
-
3Gain-
CDON-
-
-
-
1Loss-
CDPF1-
-
-
-
3Gain-
CDR2-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEACAM18-
-
-
-
1Loss-
CEBPA-
-
-
-
3Gain-
CEBPG-
-
-
-
3Gain-
CECR2-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELSR1-
-
-
-
3Gain-
CELSR3-
-
-
-
3Gain-
CEMP1-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPF-
-
-
-
3Gain-
CENPH-
-
-
-
3Gain-
CENPK-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPM-
-
-
-
3Gain-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CENPW-
-
-
-
0Del-
CEP135-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP170B-
-
-
-
3Gain-
CEP19-
-
-
-
3Gain-
CEP192p.T680M
Missense
SNP
0.302
2--
CEP295-
-
-
-
1Loss-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP44-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP57L1-
-
-
-
1Loss-
CEP72-
-
-
-
3Gain-
CEP85L-
-
-
-
0Del-
CEP89-
-
-
-
3Gain-
CER1-
-
-
-
1Loss-
CERK-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN1-
-
-
-
1Loss-
CETN3-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP299-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP57-
-
-
-
3Gain-
CFAP70p.S1032L
Missense
SNP
0.348
2--
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
1Loss-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
1Loss-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFI-
-
-
-
1Loss-
CFL1-
-
-
-
1Loss-
CFTR-
-
-
-
3Gain-
CGB1-
-
-
-
1Loss-
CGB2-
-
-
-
1Loss-
CGGBP1-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CHAC1-
-
-
-
3Gain-
CHADLp.P278L
Missense
DNP
0.716
2--
CHAF1B-
-
-
-
1Loss-
CHAMP1-
-
-
-
3Gain-
CHAT-
-
-
-
1Loss-
CHCHD10-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
3Gain-
CHD1-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD9-
-
-
-
1Loss-
CHDH-
-
-
-
3Gain-
CHEK1-
-
-
-
1Loss-
CHEK2-
-
-
-
3Gain-
CHI3L1-
-
-
-
3Gain-
CHIC2-
-
-
-
1Loss-
CHIT1-
-
-
-
3Gain-
CHKA-
-
-
-
1Loss-
CHKB-
-
-
-
3Gain-
CHKB-CPT1B-
-
-
-
3Gain-
CHL1-
-
-
-
3Gain-
CHML-
-
-
-
3Gain-
CHMP1A-
-
-
-
1Loss-
CHMP2A-
-
-
-
1Loss-
CHMP2B-
-
-
-
3Gain-
CHODL-
-
-
-
3Gain-
CHORDC1-
-
-
-
1Loss-
CHP1-
-
-
-
3Gain-
CHP2-
-
-
-
1Loss-
CHRAC1-
-
-
-
1Loss-
CHRD-
-
-
-
3Gain-
CHRDL2-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
3Gain-
CHRM1-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRM5-
-
-
-
3Gain-
CHRNA3-
-
-
-
1Loss-
CHRNA5-
-
-
-
1Loss-
CHRNA6p.S423L
Missense
SNP
0.655
2--
CHRNA7-
-
-
-
3Gain-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB4-
-
-
-
1Loss-
CHRND-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST14-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST8-
-
-
-
3Gain-
CHTF18-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CIAO2B-
-
-
-
1Loss-
CIAO3-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB2p.S59F
Missense
SNP
0.544
1Loss-
CIDEC-
-
-
-
3Gain-
CIITA-
-
-
-
1Loss-
CILPp.R737C
Missense
SNP
0.668
2--
CINP-
-
-
-
3Gain-
CISD2-
-
-
-
1Loss-
CISD3-
-
-
-
1Loss-
CISH-
-
-
-
3Gain-
CITED2-
-
-
-
1Loss-
CITED4-
-
-
-
3Gain-
CIZ1p.A332V
Missense
DNP
0.459
2--
CKAP2-
-
-
-
1Loss-
CKB-
-
-
-
3Gain-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
3Gain-
CKS1B-
-
-
-
3Gain-
CLASP2-
-
-
-
3Gain-
CLBA1-
-
-
-
3Gain-
CLCF1-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCN2-
-
-
-
3Gain-
CLCN3p.E599K
Missense
SNP
1.000
1Loss-
CLCN7-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN1-
-
-
-
3Gain-
CLDN10-
-
-
-
3Gain-
CLDN14-
-
-
-
1Loss-
CLDN16-
-
-
-
3Gain-
CLDN19-
-
-
-
3Gain-
CLDN20-
-
-
-
1Loss-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
1Loss-
CLDN3-
-
-
-
1Loss-
CLDN4-
-
-
-
1Loss-
CLDN5-
-
-
-
3Gain-
CLDN6-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDN9-
-
-
-
1Loss-
CLDND2-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC16A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC19A-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC3B-
-
-
-
3Gain-
CLEC5A-
-
-
-
3Gain-
CLIP2p.A484V
Missense
SNP
0.229
2--
CLK2p.S34F
Missense
DNP
0.547
3Gain-
CLK4-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLN3-
-
-
-
1Loss-
CLN5-
-
-
-
4Gain-
CLN8-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLNS1A-
-
-
-
1Loss-
CLOCK-
-
-
-
1Loss-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPTM1L-
-
-
-
3Gain-
CLRN2-
-
-
-
1Loss-
CLSPN-
-
-
-
3Gain-
CLTCL1-
-
-
-
3Gain-
CLUAP1-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CLVS2-
-
-
-
0Del-
CLYBL-
-
-
-
3Gain-
CMBL-
-
-
-
3Gain-
CMC1-
-
-
-
3Gain-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMPK1-
-
-
-
3Gain-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM6-
-
-
-
3Gain-
CMTM7-
-
-
-
3Gain-
CMTM8-
-
-
-
3Gain-
CMTR2-
-
-
-
1Loss-
CMYA5p.P3156S
Missense
SNP
0.548
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNGA1p.E666K
Missense
SNP
0.474
2--
CNIH2-
-
-
-
1Loss-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR3-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNOT10-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNOT6-
-
-
-
1Loss-
CNOT6L-
-
-
-
1Loss-
CNST-
-
-
-
3Gain-
CNTF-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN1p.F164C
Missense
SNP
0.509
2--
CNTN2-
-
-
-
3Gain-
CNTN3-
-
-
-
3Gain-
CNTN4-
-
-
-
3Gain-
CNTN5p.D92N
Missense
SNP
0.387
2--
CNTN6-
-
-
-
3Gain-
CNTNAP2p.P38L
Missense
SNP
0.411
3Gain-
CNTNAP4-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA6-
-
-
-
3Gain-
COA7-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG3-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG6-
-
-
-
3Gain-
COG7-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL10A1-
-
-
-
0Del-
COL14A1-
-
-
-
1Loss-
COL16A1-
-
-
-
3Gain-
COL19A1p.P129S
Missense
SNP
0.431
2--
COL1A2p.E1201K
Missense
SNP
0.598
2--
COL22A1-
-
-
-
1Loss-
COL23A1-
-
-
-
1Loss-
COL25A1-
-
-
-
1Loss-
COL28A1-
-
-
-
3Gain-
COL3A1p.E1300K
Missense
SNP
0.512
2--
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL4A3BP-
-
-
-
3Gain-
COL5A1p.G742E
Missense
SNP
0.429
2--
COL6A5p.E2589K
Missense
SNP
0.675
2--
COL7A1-
-
-
-
3Gain-
COL8A1p.G384E
Missense
SNP
0.324
2--
COL8A2-
-
-
-
3Gain-
COL9A2-
-
-
-
3Gain-
COLCA2-
-
-
-
1Loss-
COLEC10-
-
-
-
1Loss-
COLEC12-
-
-
-
1Loss-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
3Gain-
COMMD6-
-
-
-
4Gain-
COMT-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPRS-
-
-
-
1Loss-
COPS2-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS7B-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
COQ3-
-
-
-
0Del-
COQ7-
-
-
-
1Loss-
COQ8A-
-
-
-
3Gain-
CORINp.S441F
Missense
SNP
0.504
2--
CORO1B-
-
-
-
1Loss-
CORO6-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX18-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX7C-
-
-
-
3Gain-
COX8A-
-
-
-
1Loss-
CPp.T87I
Missense
DNP
0.552
2--
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPD-
-
-
-
1Loss-
CPE-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLANE1-
-
-
-
3Gain-
CPLANE2-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPLX2-
-
-
-
1Loss-
CPLX3p.R69Q
Missense
DNP
0.277
2--
CPLX4-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE4p.R201C
Missense
SNP
0.372
2--
CPNE7-
-
-
-
1Loss-
CPNE9-
-
-
-
3Gain-
CPPED1-
-
-
-
1Loss-
CPS1p.K234N
Missense
SNP
0.504
2--
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPT1B-
-
-
-
3Gain-
CPT1C-
-
-
-
1Loss-
CPT2-
-
-
-
3Gain-
CPZ-
-
-
-
1Loss-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP1-
-
-
-
1Loss-
CRABP2-
-
-
-
3Gain-
CRAMP1-
-
-
-
1Loss-
CRB1-
-
-
-
3Gain-
CRBN-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3L2p.P437L
Missense
SNP
0.631
3Gain-
CREB3L4-
-
-
-
3Gain-
CREBBP-
-
-
-
1Loss-
CREBRF-
-
-
-
1Loss-
CREBZF-
-
-
-
1Loss-
CREG1-
-
-
-
3Gain-
CRELD1-
-
-
-
3Gain-
CRELD2-
-
-
-
3Gain-
CRHBP-
-
-
-
3Gain-
CRIP1-
-
-
-
3Gain-
CRIP2-
-
-
-
3Gain-
CRISPLD2-
-
-
-
1Loss-
CRKL-
-
-
-
3Gain-
CRLF3-
-
-
-
1Loss-
CRMP1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRX-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBA1-
-
-
-
1Loss-
CRYBA4-
-
-
-
3Gain-
CRYBB1-
-
-
-
3Gain-
CRYBB2-
-
-
-
3Gain-
CRYBB3-
-
-
-
3Gain-
CRYBG1-
-
-
-
0Del-
CRYGS-
-
-
-
3Gain-
CRYM-
-
-
-
1Loss-
CSF2RB-
-
-
-
3Gain-
CSF3R-
-
-
-
3Gain-
CSGALNACT1-
-
-
-
1Loss-
CSGALNACT2-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD1p.G1511W
Missense
SNP
0.256
1Loss-
CSMD2-
-
-
-
5Amp-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1E-
-
-
-
3Gain-
CSPG4p.S308L
Missense
SNP
0.251
2--
CSPG5-
-
-
-
3Gain-
CSRNP1-
-
-
-
3Gain-
CSRP1-
-
-
-
3Gain-
CST6-
-
-
-
1Loss-
CTAGE1p.E58K
Missense
SNP
0.500
2--
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTAGE9-
-
-
-
1Loss-
CTBP1-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
3Gain-
CTDSPL2-
-
-
-
1Loss-
CTGF-
-
-
-
1Loss-
CTNNB1-
-
-
-
3Gain-
CTNND1-
-
-
-
1Loss-
CTNND2-
-
-
-
3Gain-
CTPS1-
-
-
-
3Gain-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSF-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSO-
-
-
-
1Loss-
CTSS-
-
-
-
3Gain-
CTSW-
-
-
-
1Loss-
CTTN-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTU1-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUL4A-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWC25-
-
-
-
1Loss-
CWC27-
-
-
-
3Gain-
CX3CR1-
-
-
-
3Gain-
CXADR-
-
-
-
3Gain-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXCR6-
-
-
-
3Gain-
CXorf67p.S452Y
Missense
SNP
0.995
NDND-
CXXC1-
-
-
-
1Loss-
CXXC4-
-
-
-
1Loss-
CYB561A3-
-
-
-
1Loss-
CYB561D2-
-
-
-
3Gain-
CYB5A-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5R1-
-
-
-
3Gain-
CYB5R3-
-
-
-
3Gain-
CYB5RL-
-
-
-
3Gain-
CYBA-
-
-
-
1Loss-
CYBBp.R226Q
Missense
SNP
1.000
NDND-
CYFIP1-
-
-
-
3Gain-
CYLD-
-
-
-
1Loss-
CYP11A1p.G39S
Missense
SNP
0.611
2--
CYP19A1-
-
-
-
1Loss-
CYP2D6-
-
-
-
3Gain-
CYP2D7-
-
-
-
3Gain-
CYP2E1-
-
-
-
0Del-
CYP2J2-
-
-
-
3Gain-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP46A1-
-
-
-
3Gain-
CYP4A11-
-
-
-
3Gain-
CYP4A22-
-
-
-
3Gain-
CYP4B1-
-
-
-
3Gain-
CYP4F12p.G2R
Missense
SNP
0.678
2--
CYP4V2-
-
-
-
1Loss-
CYP4X1-
-
-
-
3Gain-
CYP4Z1-
-
-
-
3Gain-
CYP7A1p.P292L
Missense
DNP
0.524
2--
CYP8B1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYTH2-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
3Gain-
CYTL1-
-
-
-
1Loss-
DAB1-
-
-
-
3Gain-
DAB2-
-
-
-
3Gain-
DACH1-
-
-
-
4Gain-
DACT2-
-
-
-
1Loss-
DACT3-
-
-
-
1Loss-
DAG1-
-
-
-
3Gain-
DAGLA-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
3Gain-
DAOA-
-
-
-
3Gain-
DAP-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DAPP1-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAZL-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNDD2p.S222F
Missense
SNP
0.527
2--
DBP-
-
-
-
1Loss-
DCAF1-
-
-
-
3Gain-
DCAF16-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCBLD1-
-
-
-
0Del-
DCC-
-
-
-
1Loss-
DCDC2B-
-
-
-
3Gain-
DCDC2Cp.G171E
Missense
SNP
0.510
2--
DCHS2p.P228S
Missense
SNP
0.992
1Loss-
DCK-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLK3-
-
-
-
3Gain-
DCP1A-
-
-
-
3Gain-
DCPS-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCT-
-
-
-
3Gain-
DCTD-
-
-
-
1Loss-
DCTN5-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
3Gain-
DCUN1D3-
-
-
-
1Loss-
DCUN1D4-
-
-
-
1Loss-
DDB1-
-
-
-
1Loss-
DDIAS-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX10-
-
-
-
1Loss-
DDX17-
-
-
-
3Gain-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX4-
-
-
-
3Gain-
DDX41-
-
-
-
1Loss-
DDX52-
-
-
-
1Loss-
DDX53p.R99S
Missense
SNP
1.000
NDND-
DDX59-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DECR2-
-
-
-
1Loss-
DEDD-
-
-
-
3Gain-
DEF8-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND2Cp.R362G
Missense
SNP
1.000
2--
DENND3-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENND6Ap.L139*
Nonsense
SNP
0.393
3Gain-
DENND6B-
-
-
-
3Gain-
DEPDC1B-
-
-
-
3Gain-
DEPDC5-
-
-
-
3Gain-
DEPP1-
-
-
-
1Loss-
DEPTOR-
-
-
-
1Loss-
DERAp.L276P
Missense
SNP
0.462
2--
DERL2-
-
-
-
1Loss-
DERL3p.G104R
Missense
SNP
0.351
3Gain-
DESI2-
-
-
-
3Gain-
DEUP1-
-
-
-
1Loss-
DGAT2-
-
-
-
1Loss-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKD-
-
-
-
1Loss-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DGKQ-
-
-
-
1Loss-
DHCR24-
-
-
-
3Gain-
DHCR7-
-
-
-
1Loss-
DHDH-
-
-
-
1Loss-
DHFR-
-
-
-
3Gain-
DHFR2-
-
-
-
3Gain-
DHODH-
-
-
-
1Loss-
DHRS11-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS13-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX29-
-
-
-
3Gain-
DHX30-
-
-
-
3Gain-
DHX33-
-
-
-
1Loss-
DHX34-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DHX9-
-
-
-
3Gain-
DIAPH3-
-
-
-
3Gain-
DIMT1-
-
-
-
3Gain-
DIO1-
-
-
-
3Gain-
DIO3-
-
-
-
3Gain-
DIS3-
-
-
-
4Gain-
DIS3Lp.P230L
Missense
DNP
0.664
2--
DIS3L2-
-
-
-
1Loss-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
3Gain-
DIXDC1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DKKL1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLEC1-
-
-
-
3Gain-
DLG1p.P685L
Missense
SNP
0.123
3Gain-
DLG2-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP1-
-
-
-
1Loss-
DLGAP2p.E275D
p.D646N
Missense
Missense
SNP
SNP
0.634
0.337
1Loss-
DLGAP3-
-
-
-
3Gain-
DLK1-
-
-
-
3Gain-
DLL1-
-
-
-
1Loss-
DLL4-
-
-
-
3Gain-
DMAC1-
-
-
-
1Loss-
DMAP1-
-
-
-
3Gain-
DMBX1-
-
-
-
3Gain-
DMC1-
-
-
-
3Gain-
DMGDH-
-
-
-
3Gain-
DMP1-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMRTA2-
-
-
-
3Gain-
DMRTB1-
-
-
-
3Gain-
DMWD-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH1-
-
-
-
3Gain-
DNAH12-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH17p.R2788C
Missense
SNP
0.418
2--
DNAH2-
-
-
-
1Loss-
DNAH3-
-
-
-
1Loss-
DNAH5-
-
-
-
3Gain-
DNAH6p.D1419N
Missense
SNP
0.395
2--
DNAH7p.E535K
Missense
SNP
0.400
2--
DNAH9-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB14-
-
-
-
1Loss-
DNAJC15-
-
-
-
3Gain-
DNAJC17-
-
-
-
3Gain-
DNAJC19-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC3-
-
-
-
3Gain-
DNAJC30-
-
-
-
1Loss-
DNAJC4-
-
-
-
1Loss-
DNAJC6-
-
-
-
3Gain-
DNAL4-
-
-
-
3Gain-
DNALI1-
-
-
-
3Gain-
DNASE1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
1Loss-
DNASE1L3-
-
-
-
3Gain-
DNER-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMT1p.D1632N
Missense
DNP
0.620
2--
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
3Gain-
DOCK7-
-
-
-
3Gain-
DOCK8-
-
-
-
1Loss-
DOCK9-
-
-
-
3Gain-
DOK3-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DOP1B-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCR1p.E1045K
Missense
SNP
0.496
NDND-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPH2-
-
-
-
3Gain-
DPH3-
-
-
-
3Gain-
DPH6-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP3-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPYDp.P789S
Missense
SNP
1.000
2--
DPYSp.G107D
Missense
SNP
0.696
2--
DRAP1-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRG1-
-
-
-
3Gain-
DRG2-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DRICH1-
-
-
-
3Gain-
DROSHA-
-
-
-
3Gain-
DSCAMp.S1203F
Missense
DNP
0.647
1Loss-
DSCAML1-
-
-
-
1Loss-
DSCC1-
-
-
-
1Loss-
DSE-
-
-
-
0Del-
DSEL-
-
-
-
1Loss-
DSPp.H643N
Missense
SNP
0.492
2--
DSPP-
-
-
-
1Loss-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTWD1-
-
-
-
1Loss-
DTX4-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP14-
-
-
-
1Loss-
DUSP18-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP5p.K13R
Missense
SNP
0.679
2--
DUSP7-
-
-
-
3Gain-
DUT-
-
-
-
1Loss-
DUXA-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DYNAP-
-
-
-
1Loss-
DYNC1H1-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
3Gain-
DYNC1LI2-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
DYNLT1-
-
-
-
1Loss-
DYRK1A-
-
-
-
1Loss-
DYRK3p.P557L
Missense
SNP
0.479
3Gain-
DZANK1p.X181_splice
Splice_Site
DNP
0.430
2--
DZIP1-
-
-
-
3Gain-
E2F4-
-
-
-
1Loss-
E4F1-
-
-
-
1Loss-
EAF1-
-
-
-
3Gain-
EARS2-
-
-
-
1Loss-
EBLN2-
-
-
-
3Gain-
EBNA1BP2-
-
-
-
3Gain-
ECE2-
-
-
-
3Gain-
ECEL1-
-
-
-
1Loss-
ECHDC1-
-
-
-
0Del-
ECHDC2-
-
-
-
3Gain-
ECHS1-
-
-
-
0Del-
ECI1-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECT2L-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDC4-
-
-
-
1Loss-
EDEM1-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EDIL3-
-
-
-
3Gain-
EDN2-
-
-
-
3Gain-
EDNRA-
-
-
-
1Loss-
EDNRB-
-
-
-
4Gain-
EED-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1G-
-
-
-
1Loss-
EEF2K-
-
-
-
1Loss-
EFCAB14-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB5-
-
-
-
1Loss-
EFCAB6-
-
-
-
3Gain-
EFCAB7-
-
-
-
3Gain-
EFCAB9-
-
-
-
1Loss-
EFEMP2-
-
-
-
1Loss-
EFHB-
-
-
-
3Gain-
EFHD1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
3Gain-
EFNB2-
-
-
-
3Gain-
EFNB3-
-
-
-
1Loss-
EGF-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EHD2-
-
-
-
1Loss-
EHD4-
-
-
-
3Gain-
EHHADH-
-
-
-
3Gain-
EI24-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EIF1AD-
-
-
-
1Loss-
EIF1B-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2AK4-
-
-
-
3Gain-
EIF2B3-
-
-
-
3Gain-
EIF2B5-
-
-
-
3Gain-
EIF2D-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3D-
-
-
-
3Gain-
EIF3H-
-
-
-
1Loss-
EIF3I-
-
-
-
3Gain-
EIF3J-
-
-
-
1Loss-
EIF3L-
-
-
-
3Gain-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4Bp.R242W
Missense
SNP
0.511
2--
EIF4E-
-
-
-
1Loss-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
3Gain-
EIF4ENIF1-
-
-
-
3Gain-
EIF4G1-
-
-
-
3Gain-
EIF5-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL4-
-
-
-
3Gain-
ELF1p.D76N
Missense
SNP
0.307
3Gain-
ELF2-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ELL2-
-
-
-
3Gain-
ELL3-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELN-
-
-
-
1Loss-
ELOB-
-
-
-
1Loss-
ELOVL1-
-
-
-
3Gain-
ELOVL3p.G228E
Missense
SNP
0.677
2--
ELOVL6-
-
-
-
1Loss-
ELOVL7p.N6I
Missense
SNP
0.384
3Gain-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
3Gain-
ELSPBP1-
-
-
-
1Loss-
EMB-
-
-
-
3Gain-
EMC3-
-
-
-
3Gain-
EMC4-
-
-
-
3Gain-
EMC7-
-
-
-
3Gain-
EMC8-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EME2-
-
-
-
1Loss-
EMID1-
-
-
-
3Gain-
EMILIN2p.V306M
Missense
SNP
1.000
1Loss-
EML1-
-
-
-
3Gain-
EML2-
-
-
-
1Loss-
EML3-
-
-
-
1Loss-
EMP2-
-
-
-
1Loss-
EMP3-
-
-
-
1Loss-
EMSY-
-
-
-
1Loss-
ENAH-
-
-
-
3Gain-
ENAM-
-
-
-
1Loss-
ENC1-
-
-
-
3Gain-
ENDOD1-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
ENOX1-
-
-
-
3Gain-
ENPEP-
-
-
-
1Loss-
ENPP1-
-
-
-
1Loss-
ENPP2-
-
-
-
1Loss-
ENPP3-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTPD3-
-
-
-
3Gain-
EOGT-
-
-
-
3Gain-
EOMES-
-
-
-
3Gain-
EPB41-
-
-
-
3Gain-
EPB41L2-
-
-
-
1Loss-
EPB41L3-
-
-
-
1Loss-
EPB41L4Bp.H452Y
Missense
SNP
0.449
2--
EPB42-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA1p.P723L
Missense
SNP
0.401
3Gain-
EPHA10-
-
-
-
3Gain-
EPHA2-
-
-
-
1Loss-
EPHA3-
-
-
-
3Gain-
EPHA5-
-
-
-
1Loss-
EPHA7-
-
-
-
0Del-
EPHA8p.S409F
Missense
SNP
0.624
2--
EPHB3-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPM2A-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
3Gain-
EPN1p.P419S
Missense
SNP
0.242
2--
EPN2-
-
-
-
1Loss-
EPOP-
-
-
-
1Loss-
EPRS-
-
-
-
3Gain-
EPS15-
-
-
-
3Gain-
EPSTI1-
-
-
-
3Gain-
ERAL1-
-
-
-
1Loss-
ERAP1-
-
-
-
3Gain-
ERAP2-
-
-
-
3Gain-
ERBB2p.P197L
Missense
SNP
0.461
2--
ERBB4p.R1304W
Missense
SNP
0.412
2--
ERBIN-
-
-
-
3Gain-
ERC2p.G38R
Missense
SNP
0.613
3Gain-
ERCC4-
-
-
-
1Loss-
ERCC5-
-
-
-
3Gain-
ERCC6-
-
-
-
1Loss-
ERCC8-
-
-
-
3Gain-
EREG-
-
-
-
1Loss-
ERG-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERI2-
-
-
-
1Loss-
ERI3-
-
-
-
3Gain-
ERICH1-
-
-
-
1Loss-
ERICH6B-
-
-
-
3Gain-
ERMAP-
-
-
-
3Gain-
ERMARD-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERN2-
-
-
-
1Loss-
ERO1B-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
1Loss-
ERVV-1p.P201S
Missense
SNP
0.300
1Loss-
ERVV-2-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESD-
-
-
-
3Gain-
ESM1-
-
-
-
3Gain-
ESR1-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESRRA-
-
-
-
1Loss-
ESRRBp.S202F
Missense
SNP
0.507
2--
ESRRG-
-
-
-
3Gain-
ESS2-
-
-
-
3Gain-
ETAA1p.G574A
Missense
SNP
0.463
2--
ETFB-
-
-
-
1Loss-
ETFDH-
-
-
-
1Loss-
ETNK2-
-
-
-
3Gain-
ETNPPLp.G484R
Missense
SNP
1.000
1Loss-
ETS1-
-
-
-
1Loss-
ETS2-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
EVA1B-
-
-
-
3Gain-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI2A-
-
-
-
1Loss-
EVI2B-
-
-
-
1Loss-
EVL-
-
-
-
3Gain-
EVPLL-
-
-
-
1Loss-
EWSR1-
-
-
-
3Gain-
EXD1-
-
-
-
3Gain-
EXO1-
-
-
-
3Gain-
EXO5-
-
-
-
3Gain-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3-
-
-
-
3Gain-
EXOC3L1-
-
-
-
1Loss-
EXOC3L4-
-
-
-
3Gain-
EXOC4-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOG-
-
-
-
3Gain-
EXOSC6-
-
-
-
1Loss-
EXOSC7-
-
-
-
3Gain-
EXOSC9-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EXT1-
-
-
-
1Loss-
EYA1-
-
-
-
1Loss-
EYA4-
-
-
-
1Loss-
EZH2-
-
-
-
3Gain-
EZR-
-
-
-
1Loss-
F10-
-
-
-
3Gain-
F11-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F2R-
-
-
-
3Gain-
F2RL1-
-
-
-
3Gain-
F2RL2-
-
-
-
3Gain-
F5-
-
-
-
3Gain-
F7-
-
-
-
3Gain-
F8p.P1111S
Missense
SNP
1.000
NDND-
FA2H-
-
-
-
1Loss-
FAAH-
-
-
-
3Gain-
FAAP24-
-
-
-
3Gain-
FABP2-
-
-
-
1Loss-
FABP3-
-
-
-
3Gain-
FABP7-
-
-
-
0Del-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FAF1-
-
-
-
3Gain-
FAHD1-
-
-
-
1Loss-
FAM107A-
-
-
-
3Gain-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM117Ap.R419Q
p.P258S
Missense
Missense
DNP
SNP
0.451
0.534
2--
FAM118A-
-
-
-
3Gain-
FAM118B-
-
-
-
1Loss-
FAM120B-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM131Ap.Q126*
Nonsense
SNP
0.809
3Gain-
FAM131B-
-
-
-
3Gain-
FAM131C-
-
-
-
1Loss-
FAM135B-
-
-
-
1Loss-
FAM13A-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM151A-
-
-
-
3Gain-
FAM151B-
-
-
-
3Gain-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155A-
-
-
-
3Gain-
FAM160A1-
-
-
-
1Loss-
FAM162B-
-
-
-
0Del-
FAM163A-
-
-
-
3Gain-
FAM167B-
-
-
-
3Gain-
FAM169A-
-
-
-
3Gain-
FAM170B-
-
-
-
1Loss-
FAM171A1p.P703S
Missense
SNP
0.479
2--
FAM172A-
-
-
-
3Gain-
FAM173A-
-
-
-
1Loss-
FAM173B-
-
-
-
3Gain-
FAM174A-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM180A-
-
-
-
3Gain-
FAM181B-
-
-
-
1Loss-
FAM183A-
-
-
-
3Gain-
FAM184A-
-
-
-
0Del-
FAM184B-
-
-
-
1Loss-
FAM189A1-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM193Ap.P806L
Missense
DNP
1.000
1Loss-
FAM193B-
-
-
-
1Loss-
FAM198Ap.G555R
Missense
SNP
0.398
3Gain-
FAM198B-
-
-
-
1Loss-
FAM19A1-
-
-
-
3Gain-
FAM19A4-
-
-
-
3Gain-
FAM19A5-
-
-
-
3Gain-
FAM200B-
-
-
-
1Loss-
FAM208A-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM214A-
-
-
-
1Loss-
FAM216B-
-
-
-
3Gain-
FAM218A-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM222B-
-
-
-
1Loss-
FAM227A-
-
-
-
3Gain-
FAM227B-
-
-
-
1Loss-
FAM229A-
-
-
-
3Gain-
FAM229B-
-
-
-
0Del-
FAM234A-
-
-
-
1Loss-
FAM240A-
-
-
-
3Gain-
FAM241A-
-
-
-
1Loss-
FAM3B-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM3D-
-
-
-
3Gain-
FAM43A-
-
-
-
3Gain-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM53A-
-
-
-
1Loss-
FAM65Bp.K107N
Missense
SNP
0.487
NDND-
FAM69C-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM81B-
-
-
-
3Gain-
FAM83E-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM86C1-
-
-
-
1Loss-
FAM89A-
-
-
-
3Gain-
FAM89B-
-
-
-
1Loss-
FAM92B-
-
-
-
1Loss-
FAM98B-
-
-
-
3Gain-
FAN1-
-
-
-
3Gain-
FANCA-
-
-
-
1Loss-
FANCD2-
-
-
-
3Gain-
FANCD2OS-
-
-
-
3Gain-
FARP1-
-
-
-
3Gain-
FASLG-
-
-
-
3Gain-
FASTKD3p.E662K
Missense
SNP
0.348
3Gain-
FAT1-
-
-
-
1Loss-
FAT3-
-
-
-
1Loss-
FAT4-
-
-
-
1Loss-
FAU-
-
-
-
1Loss-
FAXC-
-
-
-
0Del-
FBLIM1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBLN1-
-
-
-
3Gain-
FBLN2-
-
-
-
3Gain-
FBN1-
-
-
-
1Loss-
FBXL16-
-
-
-
1Loss-
FBXL17-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
3Gain-
FBXL3-
-
-
-
4Gain-
FBXL4-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL7-
-
-
-
3Gain-
FBXL8-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO27p.E32A
Missense
SNP
0.622
2--
FBXO28-
-
-
-
3Gain-
FBXO30-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO36-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO46-
-
-
-
1Loss-
FBXO47-
-
-
-
1Loss-
FBXO5-
-
-
-
1Loss-
FBXO7-
-
-
-
3Gain-
FBXO8-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FBXW12-
-
-
-
3Gain-
FBXW7-
-
-
-
1Loss-
FBXW9p.G191S
Missense
SNP
0.486
2--
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGBPp.A407T
Missense
SNP
0.273
2--
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCGRT-
-
-
-
1Loss-
FCHO2-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDCSP-
-
-
-
1Loss-
FDPS-
-
-
-
3Gain-
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEN1-
-
-
-
1Loss-
FER-
-
-
-
3Gain-
FERMT1p.D233N
Missense
SNP
0.400
2--
FERMT3-
-
-
-
1Loss-
FETUB-
-
-
-
3Gain-
FEZ1-
-
-
-
1Loss-
FEZ2p.X89_splice
Splice_Site
SNP
0.522
2--
FEZF1-
-
-
-
3Gain-
FEZF2-
-
-
-
3Gain-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD5-
-
-
-
3Gain-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
3Gain-
FGF14-
-
-
-
3Gain-
FGF18-
-
-
-
1Loss-
FGF19-
-
-
-
1Loss-
FGF2-
-
-
-
1Loss-
FGF21-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFR1OP-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FGGY-
-
-
-
3Gain-
FGL1p.E19K
Missense
SNP
0.301
2--
FH-
-
-
-
3Gain-
FHDC1-
-
-
-
1Loss-
FHIT-
-
-
-
3Gain-
FHL3-
-
-
-
3Gain-
FHL5-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FIBP-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIP1L1-
-
-
-
1Loss-
FKBP2-
-
-
-
1Loss-
FKBP6-
-
-
-
1Loss-
FKRP-
-
-
-
1Loss-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLGp.R2511K
p.P1784A
Missense
Missense
SNP
SNP
0.598
0.223
3Gain-
FLG2p.G1869E
Missense
SNP
0.584
3Gain-
FLI1-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLOT2-
-
-
-
1Loss-
FLRT1-
-
-
-
1Loss-
FLT3LG-
-
-
-
1Loss-
FLT4-
-
-
-
1Loss-
FLVCR1-
-
-
-
3Gain-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMC1-
-
-
-
3Gain-
FMN1p.D67E
Missense
SNP
0.415
3Gain-
FMN2p.A476V
Missense
SNP
0.429
3GainTBC1D22A--FMN2
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FNDC1-
-
-
-
1Loss-
FNDC5-
-
-
-
5Amp-
FNDC8-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOPNL-
-
-
-
1Loss-
FOSL1-
-
-
-
1Loss-
FOXA1p.G281T
Missense
DNP
0.423
2--
FOXA3p.G198E
Missense
SNP
1.000
1Loss-
FOXC2-
-
-
-
1Loss-
FOXD1-
-
-
-
3Gain-
FOXD2-
-
-
-
3Gain-
FOXD3-
-
-
-
3Gain-
FOXE3-
-
-
-
3Gain-
FOXF1-
-
-
-
1Loss-
FOXI1-
-
-
-
1Loss-
FOXJ3-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXL1p.P275L
Missense
DNP
1.000
1Loss-
FOXN1p.G477E
Missense
SNP
1.000
1Loss-
FOXO1-
-
-
-
3Gain-
FOXO3-
-
-
-
0Del-
FOXO6-
-
-
-
3Gain-
FOXP1-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FOXRED2p.L259F
Missense
DNP
0.525
3Gain-
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3p.E11K
Missense
SNP
0.806
1Loss-
FRAS1-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FREM2-
-
-
-
3Gain-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2B-
-
-
-
0Del-
FRG2C-
-
-
-
3Gain-
FRK-
-
-
-
0Del-
FRMD1-
-
-
-
1Loss-
FRMD4B-
-
-
-
3Gain-
FRMD5-
-
-
-
1Loss-
FRMD8-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSD2p.E445K
Missense
SNP
0.281
2--
FSIP1-
-
-
-
3Gain-
FSIP2p.E2217K
Missense
SNP
0.577
2--
FST-
-
-
-
3Gain-
FSTL1p.S103F
Missense
SNP
0.735
2--
FSTL5p.L92I
Missense
SNP
0.457
1Loss-
FTH1-
-
-
-
1Loss-
FTL-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUCA2-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
0Del-
FUT1-
-
-
-
1Loss-
FUT2-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FUT9-
-
-
-
0Del-
FXR1p.E33K
Missense
SNP
0.799
2--
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FYB2-
-
-
-
3Gain-
FYCO1-
-
-
-
3Gain-
FYN-
-
-
-
0Del-
FYTTD1-
-
-
-
3Gain-
FZD4-
-
-
-
1Loss-
FZD9-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
G3BP2-
-
-
-
1Loss-
GAB2-
-
-
-
1Loss-
GAB4-
-
-
-
3Gain-
GABARAP-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA3p.D244N
p.X111_splice
Missense
Splice_Site
SNP
SNP
1.000
1.000
NDND-
GABRA5-
-
-
-
3Gain-
GABRB3p.R414Q
Missense
SNP
0.550
3Gain-
GABRG1p.G425E
Missense
SNP
0.542
2--
GABRG3-
-
-
-
3Gain-
GABRP-
-
-
-
1Loss-
GADL1-
-
-
-
3Gain-
GAK-
-
-
-
1Loss-
GAL-
-
-
-
1Loss-
GAL3ST1-
-
-
-
3Gain-
GAL3ST3-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT15-
-
-
-
3Gain-
GALNT17-
-
-
-
1Loss-
GALNT2-
-
-
-
3Gain-
GALNT5p.E698K
Missense
SNP
0.451
2--
GALNT7-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALR3-
-
-
-
3Gain-
GAN-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAPT-
-
-
-
3Gain-
GAR1-
-
-
-
1Loss-
GAS2L1-
-
-
-
3Gain-
GAS2L2-
-
-
-
1Loss-
GAS6-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBA3-
-
-
-
1Loss-
GBE1-
-
-
-
3Gain-
GC-
-
-
-
1Loss-
GCAT-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCHFR-
-
-
-
3Gain-
GCNT4-
-
-
-
3Gain-
GCOM1-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDAP1L1-
-
-
-
1Loss-
GDE1-
-
-
-
1Loss-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFER-
-
-
-
1Loss-
GFM2-
-
-
-
3Gain-
GFOD2-
-
-
-
1Loss-
GFPT2-
-
-
-
1Loss-
GFY-
-
-
-
1Loss-
GGA2-
-
-
-
1Loss-
GGACT-
-
-
-
3Gain-
GGNBP2-
-
-
-
1Loss-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGTLC2-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHRL-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GIF-
-
-
-
1Loss-
GIGYF2-
-
-
-
1Loss-
GIMD1-
-
-
-
1Loss-
GIN1-
-
-
-
3Gain-
GINM1-
-
-
-
1Loss-
GINS2-
-
-
-
1Loss-
GIPC2p.R312Q
Missense
SNP
1.000
2--
GIPR-
-
-
-
1Loss-
GIT1-
-
-
-
1Loss-
GJA1-
-
-
-
0Del-
GJA4-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJA9-
-
-
-
3Gain-
GJA9-MYCBP-
-
-
-
3Gain-
GJB3-
-
-
-
3Gain-
GJB4-
-
-
-
3Gain-
GJB5-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJD2-
-
-
-
3Gain-
GJE1-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GLB1-
-
-
-
3Gain-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLIS1-
-
-
-
3Gain-
GLIS2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLP2R-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX-
-
-
-
3Gain-
GLRX2-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GLUL-
-
-
-
3Gain-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2-
-
-
-
1Loss-
GLYCTK-
-
-
-
3Gain-
GLYR1-
-
-
-
1Loss-
GMCL2-
-
-
-
1Loss-
GMIPp.A951T
Missense
DNP
0.434
2--
GMNC-
-
-
-
3Gain-
GMPPB-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNAI2-
-
-
-
3Gain-
GNAO1-
-
-
-
1Loss-
GNAT1-
-
-
-
3Gain-
GNAZ-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNG13-
-
-
-
1Loss-
GNG3-
-
-
-
1Loss-
GNG4-
-
-
-
3Gain-
GNG8-
-
-
-
1Loss-
GNL2-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNPTG-
-
-
-
1Loss-
GNRHR-
-
-
-
1Loss-
GOLGA4-
-
-
-
3Gain-
GOLGA6L2-
-
-
-
3Gain-
GOLGA6L7-
-
-
-
3Gain-
GOLGA8A-
-
-
-
3Gain-
GOLGA8B-
-
-
-
3Gain-
GOLGA8F-
-
-
-
3Gain-
GOLGA8G-
-
-
-
3Gain-
GOLGA8R-
-
-
-
3Gain-
GOLGA8S-
-
-
-
3Gain-
GOLPH3-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GOPC-
-
-
-
0Del-
GORASP1-
-
-
-
3Gain-
GOSR1-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GP2-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPALPP1-
-
-
-
3Gain-
GPAT3-
-
-
-
1Loss-
GPATCH1-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH3p.P213S
Missense
DNP
0.306
2--
GPATCH4-
-
-
-
3Gain-
GPBP1-
-
-
-
3Gain-
GPBP1L1-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPD1L-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPHA2-
-
-
-
1Loss-
GPI-
-
-
-
3Gain-
GPM6A-
-
-
-
1Loss-
GPR107p.P375L
Missense
DNP
0.459
2--
GPR132-
-
-
-
3Gain-
GPR137-
-
-
-
1Loss-
GPR137B-
-
-
-
3Gain-
GPR139-
-
-
-
1Loss-
GPR146-
-
-
-
3Gain-
GPR150-
-
-
-
3Gain-
GPR152-
-
-
-
1Loss-
GPR161-
-
-
-
3Gain-
GPR176-
-
-
-
3Gain-
GPR179-
-
-
-
1Loss-
GPR18-
-
-
-
3Gain-
GPR180-
-
-
-
3Gain-
GPR183-
-
-
-
3Gain-
GPR20-
-
-
-
1Loss-
GPR25-
-
-
-
3Gain-
GPR27-
-
-
-
3Gain-
GPR31-
-
-
-
1Loss-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR4-
-
-
-
1Loss-
GPR52-
-
-
-
3Gain-
GPR55-
-
-
-
1Loss-
GPR6-
-
-
-
1Loss-
GPR62-
-
-
-
3Gain-
GPR63-
-
-
-
0Del-
GPR78-
-
-
-
1Loss-
GPR83-
-
-
-
1Loss-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5B-
-
-
-
1Loss-
GPRC6A-
-
-
-
0Del-
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX1-
-
-
-
3Gain-
GPX7-
-
-
-
3Gain-
GPX8-
-
-
-
3Gain-
GRAMD1Bp.W516*
Nonsense
SNP
0.985
1Loss-
GRAMD4-
-
-
-
3Gain-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB10p.S499F
Missense
SNP
0.450
2--
GREB1Lp.G1328D
Missense
SNP
0.450
2--
GREM1-
-
-
-
3Gain-
GREM2-
-
-
-
3Gain-
GRIA2-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK1p.G771E
Missense
SNP
0.239
2--
GRIK2-
-
-
-
0Del-
GRIK3-
-
-
-
3Gain-
GRIK4-
-
-
-
1Loss-
GRIN2A-
-
-
-
1Loss-
GRIN2D-
-
-
-
1Loss-
GRIN3Ap.G603E
Missense
SNP
0.475
2--
GRIP2-
-
-
-
3Gain-
GRK1-
-
-
-
3Gain-
GRK2-
-
-
-
1Loss-
GRK3-
-
-
-
3Gain-
GRK4-
-
-
-
1Loss-
GRM1-
-
-
-
1Loss-
GRM2-
-
-
-
3Gain-
GRM3p.G18E
Missense
SNP
0.659
2--
GRM5-
-
-
-
1Loss-
GRM6-
-
-
-
1Loss-
GRM7p.D578N
Missense
SNP
0.438
3Gain-
GRM8-
-
-
-
3Gain-
GRNp.P578S
Missense
SNP
0.478
2--
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRTP1-
-
-
-
3Gain-
GRWD1-
-
-
-
1Loss-
GSC2-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSPT1-
-
-
-
1Loss-
GSTCD-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTP1-
-
-
-
1Loss-
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GSX2-
-
-
-
1Loss-
GTF2F2-
-
-
-
3Gain-
GTF2H2-
-
-
-
3Gain-
GTF2H2C-
-
-
-
3Gain-
GTF2H5-
-
-
-
1Loss-
GTF3C1-
-
-
-
1Loss-
GTF3C6-
-
-
-
1Loss-
GTPBP1-
-
-
-
3Gain-
GTSE1-
-
-
-
3Gain-
GTSF1p.R56H
Missense
SNP
0.468
2--
GUCA2A-
-
-
-
3Gain-
GUCA2B-
-
-
-
3Gain-
GUCD1-
-
-
-
3Gain-
GUCY1A1-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
3Gain-
GUSBp.S81Y
Missense
DNP
0.587
2--
GVQW2-
-
-
-
1Loss-
GVQW3-
-
-
-
1Loss-
GXYLT2-
-
-
-
3Gain-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYS1-
-
-
-
1Loss-
GYS2p.L23R
Missense
SNP
0.200
2--
GZMA-
-
-
-
3Gain-
GZMK-
-
-
-
3Gain-
H1F0-
-
-
-
3Gain-
H2AFX-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H3F3A-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACE1-
-
-
-
0Del-
HACL1-
-
-
-
3Gain-
HADH-
-
-
-
1Loss-
HAGH-
-
-
-
1Loss-
HAGHL-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAPLN1-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAS1-
-
-
-
1Loss-
HAS2-
-
-
-
3Gain-
HAS3-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBA1-
-
-
-
1Loss-
HBA2-
-
-
-
1Loss-
HBM-
-
-
-
1Loss-
HBQ1-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HBZ-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HCN1-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HCRTR1-
-
-
-
3Gain-
HDAC1-
-
-
-
3Gain-
HDAC10-
-
-
-
3Gain-
HDAC11-
-
-
-
3Gain-
HDAC2-
-
-
-
0Del-
HDC-
-
-
-
1Loss-
HDDC2-
-
-
-
0Del-
HDGF-
-
-
-
3Gain-
HDHD5-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR3-
-
-
-
1Loss-
HEATR6p.P624S
Missense
SNP
0.484
2--
HEATR9-
-
-
-
1Loss-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECTD3-
-
-
-
3Gain-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HEMK1-
-
-
-
3Gain-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERC2-
-
-
-
3Gain-
HERC3-
-
-
-
1Loss-
HERC5p.L236F
Missense
SNP
1.000
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD2p.P321S
Missense
SNP
0.461
2--
HES1-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
3Gain-
HEXB-
-
-
-
3Gain-
HEXIM2p.A3V
Missense
SNP
0.444
2--
HEY2-
-
-
-
0Del-
HEYL-
-
-
-
3Gain-
HFM1p.E1250K
Missense
SNP
1.000
2--
HGFAC-
-
-
-
1Loss-
HHAT-
-
-
-
3Gain-
HHATL-
-
-
-
3Gain-
HHIP-
-
-
-
1Loss-
HHIPL1-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HIBCHp.G181D
Missense
SNP
0.469
2--
HIC2-
-
-
-
3Gain-
HIF3A-
-
-
-
1Loss-
HIGD1A-
-
-
-
3Gain-
HIKESHI-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINFP-
-
-
-
1Loss-
HINT3-
-
-
-
0Del-
HIPK2-
-
-
-
3Gain-
HIRA-
-
-
-
3Gain-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP2-
-
-
-
1Loss-
HIVEP3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HLCS-
-
-
-
1Loss-
HLX-
-
-
-
3Gain-
HMBS-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMG20A-
-
-
-
1Loss-
HMGB2-
-
-
-
1Loss-
HMGB4-
-
-
-
3Gain-
HMGCR-
-
-
-
3Gain-
HMGCS1-
-
-
-
3Gain-
HMGN1-
-
-
-
1Loss-
HMGXB4-
-
-
-
3Gain-
HMOX1-
-
-
-
3Gain-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HNF1B-
-
-
-
1Loss-
HNRNPA2B1p.E192K
Missense
SNP
0.415
2--
HNRNPAB-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPU-
-
-
-
3Gain-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOMER1-
-
-
-
3Gain-
HOOK1-
-
-
-
3Gain-
HOPX-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HORMAD2-
-
-
-
3Gain-
HOXD8p.Q184E
Missense
SNP
0.520
2--
HPp.D246N
Missense
SNP
1.000
1Loss-
HPCA-
-
-
-
5Amp-
HPCAL4-
-
-
-
3Gain-
HPDL-
-
-
-
3Gain-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS4-
-
-
-
3Gain-
HPSE-
-
-
-
1Loss-
HRASLS-
-
-
-
3Gain-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRC-
-
-
-
1Loss-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
3Gain-
HRH2-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST1-
-
-
-
1Loss-
HS3ST2-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST4-
-
-
-
1Loss-
HS3ST5-
-
-
-
0Del-
HS3ST6-
-
-
-
1Loss-
HS6ST3-
-
-
-
3Gain-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSCB-
-
-
-
3Gain-
HSD11B1-
-
-
-
3Gain-
HSD11B2-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B14-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSF2-
-
-
-
0Del-
HSF4-
-
-
-
1Loss-
HSP90AA1-
-
-
-
3Gain-
HSPA12Ap.T623M
Missense
SNP
0.664
2--
HSPA13-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPB11-
-
-
-
3Gain-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
3Gain-
HSPB7-
-
-
-
1Loss-
HTD2-
-
-
-
3Gain-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1Ap.E340K
Missense
SNP
0.575
3Gain-
HTR1F-
-
-
-
3Gain-
HTR2A-
-
-
-
3Gain-
HTR2B-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUWE1p.P2999L
Missense
SNP
1.000
NDND-
HYAL1-
-
-
-
3Gain-
HYAL2-
-
-
-
3Gain-
HYAL3-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
HYI-
-
-
-
3Gain-
HYKK-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
IARS2p.P247S
Missense
SNP
0.326
3Gain-
IBA57-
-
-
-
3Gain-
IBSP-
-
-
-
1Loss-
ICA1p.E352K
Missense
SNP
0.350
3Gain-
ICE1-
-
-
-
3Gain-
IDH2p.Q267*
Nonsense
DNP
0.292
2--
IDH3A-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD2-
-
-
-
3Gain-
IFT140-
-
-
-
1Loss-
IFT20-
-
-
-
1Loss-
IFT27-
-
-
-
3Gain-
IFT46-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGF2R-
-
-
-
1Loss-
IGFALS-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFN1-
-
-
-
3Gain-
IGHD-
-
-
-
3Gain-
IGHMBP2-
-
-
-
1Loss-
IGHV3-72-
-
-
-
3Gain-
IGLL1-
-
-
-
3Gain-
IGLL5-
-
-
-
3Gain-
IGLON5-
-
-
-
1Loss-
IGLV1-44p.Y69H
Missense
SNP
0.400
NDND-
IGLV10-54-
-
-
-
3Gain-
IGLV5-37p.E108*
Nonsense
SNP
0.561
NDND-
IGSF10p.P1240S
Missense
SNP
0.283
2--
IGSF5-
-
-
-
1Loss-
IGSF6-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL10RA-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17RA-
-
-
-
3Gain-
IL17RBp.X224_splice
Splice_Site
SNP
0.373
3Gain-
IL17RC-
-
-
-
3Gain-
IL17RD-
-
-
-
3Gain-
IL17RE-
-
-
-
3Gain-
IL17REL-
-
-
-
3Gain-
IL18-
-
-
-
1Loss-
IL18BP-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL1RAP-
-
-
-
3Gain-
IL2-
-
-
-
1Loss-
IL20-
-
-
-
3Gain-
IL20RA-
-
-
-
1Loss-
IL21-
-
-
-
1Loss-
IL21R-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL24-
-
-
-
3Gain-
IL27-
-
-
-
1Loss-
IL2RB-
-
-
-
3Gain-
IL31RA-
-
-
-
3Gain-
IL32-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
IL5RA-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
3Gain-
IL7Rp.L406P
Missense
SNP
0.174
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
IMPDH2-
-
-
-
3Gain-
INAFM1-
-
-
-
1Loss-
INAVA-
-
-
-
3Gain-
INCENP-
-
-
-
1Loss-
INF2-
-
-
-
3Gain-
ING1-
-
-
-
3Gain-
ING2-
-
-
-
1Loss-
ING3p.S318F
Missense
DNP
0.366
3Gain-
INKA1-
-
-
-
3Gain-
INO80-
-
-
-
3Gain-
INPP5B-
-
-
-
3Gain-
INPP5D-
-
-
-
1Loss-
INPP5J-
-
-
-
3Gain-
INPPL1-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INSYN2B-
-
-
-
1Loss-
INTS1p.P456S
Missense
SNP
0.246
3Gain-
INTS10-
-
-
-
1Loss-
INTS12-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS4-
-
-
-
1Loss-
INTS4P1.
Splice_Site
SNP
0.543
NDND-
INTS5-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
INTS7-
-
-
-
3Gain-
INTU-
-
-
-
1Loss-
IP6K1-
-
-
-
3Gain-
IP6K2-
-
-
-
3Gain-
IP6K3p.E159K
Missense
SNP
0.449
2--
IPCEF1-
-
-
-
1Loss-
IPO11-
-
-
-
3Gain-
IPO13-
-
-
-
3Gain-
IPO5-
-
-
-
3Gain-
IPO9-
-
-
-
3Gain-
IPP-
-
-
-
3Gain-
IQCC-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
3Gain-
IQCF2-
-
-
-
3Gain-
IQCF3-
-
-
-
3Gain-
IQCF5-
-
-
-
3Gain-
IQCF6-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCK-
-
-
-
1Loss-
IQGAP2-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
3Gain-
IQSEC3p.S855F
p.T946A
Missense
Missense
SNP
SNP
0.519
0.436
2--
IQUB-
-
-
-
3Gain-
IRAK2-
-
-
-
3Gain-
IREB2-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF2BP2-
-
-
-
3Gain-
IRF3-
-
-
-
1Loss-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF8-
-
-
-
1Loss-
IRS2p.P910L
Missense
SNP
1.000
3Gain-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX3-
-
-
-
1Loss-
IRX4-
-
-
-
3Gain-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ISX-
-
-
-
3Gain-
ITFG1-
-
-
-
1Loss-
ITGA1-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA11p.G307E
Missense
SNP
0.571
2--
ITGA2-
-
-
-
3Gain-
ITGA2Bp.V638I
Missense
SNP
0.241
2--
ITGA9-
-
-
-
3Gain-
ITGADp.E545K
Missense
SNP
0.486
2--
ITGALp.Q818*
Nonsense
SNP
0.508
2--
ITGAMp.G934E
Missense
SNP
0.552
2--
ITGB1-
-
-
-
1Loss-
ITGB2p.D231N
Missense
SNP
0.493
2--
ITGB3BP-
-
-
-
3Gain-
ITGBL1p.D456N
Missense
SNP
1.000
3Gain-
ITIH1-
-
-
-
3Gain-
ITIH3-
-
-
-
3Gain-
ITIH4-
-
-
-
3Gain-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2C-
-
-
-
1Loss-
ITPKA-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
ITPR1-
-
-
-
3Gain-
ITPRIPL2-
-
-
-
1Loss-
IVD-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IYD-
-
-
-
1Loss-
IZUMO1-
-
-
-
1Loss-
IZUMO1R-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JAG1p.A155T
Missense
SNP
0.516
2--
JAG2-
-
-
-
3Gain-
JAGN1-
-
-
-
3Gain-
JAK1-
-
-
-
3Gain-
JAK2-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD7-
-
-
-
3Gain-
JMJD7-PLA2G4B-
-
-
-
3Gain-
JMJD8-
-
-
-
1Loss-
JMY-
-
-
-
3Gain-
JOSD1-
-
-
-
3Gain-
JPH3-
-
-
-
1Loss-
JPT2-
-
-
-
1Loss-
JRK-
-
-
-
1Loss-
JRKL-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
JUN-
-
-
-
3Gain-
JUPp.E387K
Missense
SNP
0.466
2--
KALRNp.E716K
Missense
SNP
0.652
2--
KANK1-
-
-
-
1Loss-
KANK4p.G549E
Missense
SNP
0.604
3Gain-
KARS-
-
-
-
1Loss-
KAT2B-
-
-
-
3Gain-
KAT5-
-
-
-
1Loss-
KAT6Bp.P464L
Missense
SNP
0.603
2--
KATNA1-
-
-
-
1Loss-
KATNBL1-
-
-
-
3Gain-
KBTBD11p.D506N
Missense
SNP
0.256
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KBTBD8-
-
-
-
3Gain-
KCNA7-
-
-
-
1Loss-
KCNAB3p.P28L
Missense
SNP
1.000
1Loss-
KCNB2p.S655F
Missense
SNP
0.658
2--
KCND2-
-
-
-
3Gain-
KCNE3-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNG4p.W74*
Nonsense
SNP
1.000
1Loss-
KCNH1-
-
-
-
3Gain-
KCNH8p.S536F
Missense
SNP
0.391
3Gain-
KCNIP1-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ12-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ14-
-
-
-
1Loss-
KCNJ15-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ4-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNJ6-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNK9p.G97E
Missense
SNP
0.638
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNMB2p.E93K
Missense
SNP
0.725
2--
KCNN3-
-
-
-
3Gain-
KCNQ4-
-
-
-
3Gain-
KCNS3p.Y321H
Missense
SNP
0.504
2--
KCNT1p.W425*
Nonsense
SNP
0.524
2--
KCNT2-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
4Gain-
KCTD14-
-
-
-
1Loss-
KCTD15-
-
-
-
3Gain-
KCTD17-
-
-
-
3Gain-
KCTD19-
-
-
-
1Loss-
KCTD21-
-
-
-
1Loss-
KCTD3-
-
-
-
3Gain-
KCTD4-
-
-
-
3Gain-
KCTD5-
-
-
-
1Loss-
KCTD6-
-
-
-
3Gain-
KDELC1-
-
-
-
3Gain-
KDELC2-
-
-
-
1Loss-
KDELR1-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
3Gain-
KDM2A-
-
-
-
1Loss-
KDM4A-
-
-
-
3Gain-
KDM4C-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM5Ap.P1533L
Missense
SNP
0.483
2--
KDM5B-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDM8-
-
-
-
1Loss-
KDRp.R1022Q
Missense
SNP
0.994
1Loss-
KDSR-
-
-
-
1Loss-
KEL-
-
-
-
3Gain-
KHDC1Lp.T62I
Missense
SNP
0.506
2--
KHDC4-
-
-
-
3Gain-
KHDRBS1-
-
-
-
3Gain-
KHDRBS2p.G308E
Missense
SNP
0.437
2--
KHDRBS3-
-
-
-
1Loss-
KIAA0100-
-
-
-
1Loss-
KIAA0232p.S1368F
Missense
SNP
1.000
1Loss-
KIAA0319L-
-
-
-
3Gain-
KIAA0355-
-
-
-
3Gain-
KIAA0408-
-
-
-
0Del-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
3Gain-
KIAA0895L-
-
-
-
1Loss-
KIAA0930-
-
-
-
3Gain-
KIAA1109-
-
-
-
1Loss-
KIAA1143-
-
-
-
3Gain-
KIAA1147-
-
-
-
3Gain-
KIAA1211-
-
-
-
1Loss-
KIAA1217p.D1772N
p.P1919L
Missense
Missense
SNP
SNP
0.484
0.434
2--
KIAA1324Lp.P357L
Missense
SNP
0.589
2--
KIAA1462p.S571L
Missense
SNP
0.460
NDND-
KIAA1522-
-
-
-
5Amp-
KIAA1549-
-
-
-
3Gain-
KIAA1614-
-
-
-
3Gain-
KIAA1671-
-
-
-
3Gain-
KIAA2026-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF15-
-
-
-
3Gain-
KIF17p.E523K
Missense
DNP
0.751
2--
KIF21B-
-
-
-
3Gain-
KIF25-
-
-
-
1Loss-
KIF26A-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIF2A-
-
-
-
3Gain-
KIF2C-
-
-
-
3Gain-
KIF3Bp.R132Q
Missense
SNP
0.452
2--
KIF5Ap.E453K
Missense
SNP
0.521
2--
KIF9-
-
-
-
3Gain-
KIR3DL1p.R52C
Missense
SNP
0.260
2--
KIR3DL3p.L226F
Missense
SNP
0.640
2--
KIRREL1-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KISS1-
-
-
-
3Gain-
KIT-
-
-
-
1Loss-
KLC1-
-
-
-
3Gain-
KLC2-
-
-
-
1Loss-
KLF12-
-
-
-
4Gain-
KLF13-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF17-
-
-
-
3Gain-
KLF5-
-
-
-
4Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC7B-
-
-
-
3Gain-
KLHDC8A-
-
-
-
3Gain-
KLHDC8B-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL1-
-
-
-
4Gain-
KLHL12-
-
-
-
3Gain-
KLHL14p.G477E
Missense
SNP
0.409
2--
KLHL18-
-
-
-
3Gain-
KLHL2-
-
-
-
1Loss-
KLHL20-
-
-
-
3Gain-
KLHL22-
-
-
-
3Gain-
KLHL24-
-
-
-
3Gain-
KLHL32-
-
-
-
0Del-
KLHL35-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL40-
-
-
-
3Gain-
KLHL6-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12-
-
-
-
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KMO-
-
-
-
3Gain-
KMT2A-
-
-
-
1Loss-
KMT5B-
-
-
-
1Loss-
KNCN-
-
-
-
3Gain-
KNG1-
-
-
-
3Gain-
KNL1-
-
-
-
3Gain-
KNOP1-
-
-
-
1Loss-
KNSTRN-
-
-
-
3Gain-
KPNA5-
-
-
-
0Del-
KPNA6-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KPTN-
-
-
-
1Loss-
KRASp.G12C
Missense
SNP
0.438
2--
KRBA1-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
3Gain-
KREMEN1-
-
-
-
3Gain-
KREMEN2-
-
-
-
1Loss-
KRT23p.G198R
Missense
SNP
0.475
2--
KRT33Ap.S309F
Missense
SNP
0.464
2--
KRT7p.X231_splice
Splice_Site
SNP
0.472
2--
KRT84p.G43R
Missense
SNP
0.539
2--
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTAP9-4p.R103K
Missense
SNP
0.449
2--
KRTCAP2-
-
-
-
3Gain-
KSR1-
-
-
-
1Loss-
KTI12p.G142E
Missense
SNP
0.559
3Gain-
L1TD1p.E466K
Missense
SNP
0.361
3Gain-
L3MBTL3-
-
-
-
0Del-
L3MBTL4-
-
-
-
1Loss-
LACC1-
-
-
-
3Gain-
LACTB2-
-
-
-
1Loss-
LACTBL1p.K198E
Missense
SNP
0.648
2--
LAD1-
-
-
-
3Gain-
LAMA1-
-
-
-
1Loss-
LAMA2-
-
-
-
0Del-
LAMA4p.S1632F
Missense
SNP
1.000
0Del-
LAMB2-
-
-
-
3Gain-
LAMB3p.G1149R
Missense
SNP
0.524
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP1-
-
-
-
3Gain-
LAMP2p.L150F
Missense
DNP
1.000
NDND-
LAMP3-
-
-
-
3Gain-
LAMTOR1-
-
-
-
1Loss-
LAMTOR2-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LAP3-
-
-
-
1Loss-
LAPTM5-
-
-
-
3Gain-
LARGE1-
-
-
-
3Gain-
LARP1B-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LARS2-
-
-
-
3Gain-
LASP1-
-
-
-
1Loss-
LAT-
-
-
-
1Loss-
LATS1-
-
-
-
1Loss-
LAX1-
-
-
-
3Gain-
LAYN-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LBR-
-
-
-
3Gain-
LCA5L-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCKp.R39Q
Missense
SNP
0.583
3Gain-
LCMT1-
-
-
-
1Loss-
LCMT2-
-
-
-
1Loss-
LCORp.Q1013H
Missense
SNP
0.270
2--
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
3Gain-
LCP2-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD1-
-
-
-
3Gain-
LEF1-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEPp.Q96*
Nonsense
SNP
0.398
3Gain-
LEPRp.W646*
p.R1088T
Nonsense
Missense
SNP
SNP
0.589
0.374
3Gain-
LEPROT-
-
-
-
3Gain-
LETM1-
-
-
-
1Loss-
LEXM-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS12-
-
-
-
1Loss-
LGALS2-
-
-
-
3Gain-
LGALS8-
-
-
-
3Gain-
LGALS9-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGR6-
-
-
-
3Gain-
LHFPp.A180V
Missense
SNP
0.453
NDND-
LHFPL2-
-
-
-
3Gain-
LHFPL4-
-
-
-
3Gain-
LHFPL6-
-
-
-
3Gain-
LHX1-
-
-
-
1Loss-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIF-
-
-
-
3Gain-
LIFR-
-
-
-
3Gain-
LIG1-
-
-
-
1Loss-
LIG3p.T568R
Missense
SNP
1.000
1Loss-
LIG4-
-
-
-
3Gain-
LIM2-
-
-
-
1Loss-
LIMD1-
-
-
-
3Gain-
LIMK1-
-
-
-
1Loss-
LIMK2-
-
-
-
3Gain-
LIN28B-
-
-
-
0Del-
LIN54-
-
-
-
1Loss-
LIN7B-
-
-
-
1Loss-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
3Gain-
LINGO1-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LIPC-
-
-
-
3Gain-
LIPEp.A860T
Missense
SNP
0.709
2--
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LIPI-
-
-
-
1Loss-
LIPT2-
-
-
-
1Loss-
LITAF-
-
-
-
1Loss-
LIX1-
-
-
-
3Gain-
LIX1L-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LMAN1-
-
-
-
1Loss-
LMBRD2-
-
-
-
3Gain-
LMCD1-
-
-
-
3Gain-
LMF1-
-
-
-
1Loss-
LMF2-
-
-
-
3Gain-
LMLN-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMO7p.P531L
Missense
SNP
0.649
4Gain-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMOD3-
-
-
-
3Gain-
LMTK2p.S1424P
Missense
SNP
0.373
2--
LMTK3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LNPEP-
-
-
-
3Gain-
LNX1-
-
-
-
1Loss-
LONP2-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LPA-
-
-
-
1Loss-
LPCAT1-
-
-
-
3Gain-
LPCAT2-
-
-
-
1Loss-
LPCAT4-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LPIN2-
-
-
-
1Loss-
LPL-
-
-
-
1Loss-
LPOp.E490K
Missense
SNP
0.460
2--
LPP-
-
-
-
3Gain-
LPXN-
-
-
-
1Loss-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRCH1-
-
-
-
3Gain-
LRCH3-
-
-
-
3Gain-
LRFN4-
-
-
-
1Loss-
LRGUK-
-
-
-
3Gain-
LRIG1-
-
-
-
3Gain-
LRIT3-
-
-
-
1Loss-
LRP11-
-
-
-
1Loss-
LRP2BP-
-
-
-
1Loss-
LRP3-
-
-
-
3Gain-
LRP5-
-
-
-
1Loss-
LRP5L-
-
-
-
3Gain-
LRP8-
-
-
-
3Gain-
LRPAP1-
-
-
-
1Loss-
LRRC10B-
-
-
-
1Loss-
LRRC14B-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC2-
-
-
-
3Gain-
LRRC29-
-
-
-
1Loss-
LRRC30-
-
-
-
1Loss-
LRRC32-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC37B-
-
-
-
1Loss-
LRRC3B-
-
-
-
3Gain-
LRRC4-
-
-
-
3Gain-
LRRC41-
-
-
-
3Gain-
LRRC42-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC55-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC63-
-
-
-
3Gain-
LRRC66-
-
-
-
1Loss-
LRRC70-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC72p.R156C
Missense
SNP
0.412
2--
LRRC74B-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRC75B-
-
-
-
3Gain-
LRRFIP2-
-
-
-
3Gain-
LRRK1p.P664S
Missense
DNP
0.667
2--
LRRN1-
-
-
-
3Gain-
LRRN2-
-
-
-
3Gain-
LRRN4CL-
-
-
-
1Loss-
LRRTM2p.G356E
Missense
SNP
1.000
2--
LRSAM1p.E307K
Missense
DNP
0.472
2--
LRTM1-
-
-
-
3Gain-
LRTM2p.S367F
Missense
SNP
0.506
2--
LRTOMT-
-
-
-
1Loss-
LSG1-
-
-
-
3Gain-
LSM10-
-
-
-
3Gain-
LSM14A-
-
-
-
3Gain-
LSM3-
-
-
-
3Gain-
LSM6-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM2-
-
-
-
3Gain-
LTBP2p.S668F
Missense
SNP
0.417
2--
LTBP3-
-
-
-
1Loss-
LTC4S-
-
-
-
1Loss-
LTFp.L610F
Missense
SNP
0.400
3Gain-
LTK-
-
-
-
3Gain-
LTO1-
-
-
-
1Loss-
LTV1-
-
-
-
1Loss-
LUC7L-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LURAP1-
-
-
-
3Gain-
LURAP1L-
-
-
-
1Loss-
LUZP6-
-
-
-
3Gain-
LY6K-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LYAR-
-
-
-
1Loss-
LYNX1-
-
-
-
1Loss-
LYNX1-SLURP2-
-
-
-
1Loss-
LYPD2-
-
-
-
1Loss-
LYPD8-
-
-
-
3Gain-
LYPLA1-
-
-
-
1Loss-
LYPLAL1-
-
-
-
3Gain-
LYRM1-
-
-
-
1Loss-
LYRM9-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
1Loss-
LYSMD3-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LYZL4-
-
-
-
3Gain-
LYZL6-
-
-
-
1Loss-
LZTFL1-
-
-
-
3Gain-
LZTR1-
-
-
-
3Gain-
LZTS1-
-
-
-
1Loss-
MAB21L2-
-
-
-
1Loss-
MACF1-
-
-
-
3Gain-
MACROD1-
-
-
-
1Loss-
MAD1L1-
-
-
-
3Gain-
MAD2L1-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAFF-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGEF1-
-
-
-
3Gain-
MAGEL2-
-
-
-
3Gain-
MAGI1-
-
-
-
3Gain-
MAGI3p.R1314Q
Missense
SNP
0.996
2--
MAGOH-
-
-
-
3Gain-
MAJIN-
-
-
-
1Loss-
MAL2-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAML1-
-
-
-
1Loss-
MAML2-
-
-
-
1Loss-
MAML3-
-
-
-
1Loss-
MAMSTR-
-
-
-
1Loss-
MAN1A1-
-
-
-
0Del-
MAN1C1p.P616S
Missense
SNP
0.300
2--
MAN2B2-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MANEA-
-
-
-
0Del-
MANEAL-
-
-
-
3Gain-
MANF-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAP1LC3C-
-
-
-
3Gain-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K5p.I104L
Missense
SNP
0.340
2--
MAP3K1-
-
-
-
3Gain-
MAP3K11-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K4-
-
-
-
1Loss-
MAP3K5-
-
-
-
1Loss-
MAP3K7-
-
-
-
0Del-
MAP4p.P1475L
Missense
SNP
0.575
3Gain-
MAP4K2-
-
-
-
1Loss-
MAP4K4p.R998Q
Missense
SNP
0.500
2--
MAP6-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAP7-
-
-
-
1Loss-
MAP7D1-
-
-
-
3Gain-
MAP9-
-
-
-
1Loss-
MAPK1-
-
-
-
3Gain-
MAPK10-
-
-
-
1Loss-
MAPK11-
-
-
-
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
3Gain-
MAPK8IP3-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
3Gain-
MAPKBP1-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH1-
-
-
-
1Loss-
MARCH10p.E665K
Missense
SNP
0.475
2--
MARCH11-
-
-
-
3Gain-
MARCH6-
-
-
-
3Gain-
MARCH8-
-
-
-
1Loss-
MARCKS-
-
-
-
0Del-
MARCKSL1-
-
-
-
3Gain-
MARF1-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARK2-
-
-
-
1Loss-
MARK3-
-
-
-
3Gain-
MARVELD2-
-
-
-
3Gain-
MARVELD3-
-
-
-
1Loss-
MAS1-
-
-
-
1Loss-
MASP1-
-
-
-
3Gain-
MAST2-
-
-
-
3Gain-
MAST4-
-
-
-
3Gain-
MATN1-
-
-
-
3Gain-
MB-
-
-
-
3Gain-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBLAC2-
-
-
-
3Gain-
MBNL2-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCAT-
-
-
-
3Gain-
MCCC1-
-
-
-
3Gain-
MCCC2-
-
-
-
3Gain-
MCF2L-
-
-
-
3Gain-
MCF2L2-
-
-
-
3Gain-
MCHR2-
-
-
-
0Del-
MCIDAS-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM5-
-
-
-
3Gain-
MCM9-
-
-
-
0Del-
MCPH1-
-
-
-
1Loss-
MCRIP1p.P77L
Missense
DNP
0.521
2--
MCRIP2-
-
-
-
1Loss-
MCTP1p.E310K
Missense
SNP
0.396
3Gain-
MCUB-
-
-
-
1Loss-
MDFIC-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
ME2-
-
-
-
1Loss-
ME3-
-
-
-
1Loss-
MEAF6-
-
-
-
3Gain-
MECOMp.R711K
Missense
SNP
0.618
2--
MECR-
-
-
-
3Gain-
MED10-
-
-
-
3Gain-
MED15-
-
-
-
3Gain-
MED17-
-
-
-
1Loss-
MED19-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED30-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED8-
-
-
-
3Gain-
MED9-
-
-
-
1Loss-
MEF2Bp.P189L
Missense
SNP
0.491
2--
MEF2C-
-
-
-
3Gain-
MEF2D-
-
-
-
3Gain-
MEFVp.G320R
Missense
SNP
0.305
1Loss-
MEI1-
-
-
-
3Gain-
MEIOB-
-
-
-
1Loss-
MEIS2-
-
-
-
3Gain-
MEIS3-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEN1-
-
-
-
1Loss-
MEPE-
-
-
-
1Loss-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP1-
-
-
-
1Loss-
METRN-
-
-
-
1Loss-
METTL13-
-
-
-
3Gain-
METTL14-
-
-
-
1Loss-
METTL21C-
-
-
-
3Gain-
METTL22-
-
-
-
1Loss-
METTL24-
-
-
-
1Loss-
METTL26-
-
-
-
1Loss-
METTL27-
-
-
-
1Loss-
METTL2B-
-
-
-
3Gain-
METTL4-
-
-
-
1Loss-
METTL6-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
METTL9-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3C-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFNG-
-
-
-
3Gain-
MFRP-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD2Ap.W122*
Nonsense
SNP
0.369
3Gain-
MFSD4A-
-
-
-
3Gain-
MFSD4B-
-
-
-
0Del-
MFSD6L-
-
-
-
1Loss-
MFSD8-
-
-
-
1Loss-
MGAp.D680Y
Missense
SNP
0.190
3Gain-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGARP-
-
-
-
1Loss-
MGAT1-
-
-
-
1Loss-
MGAT3-
-
-
-
3Gain-
MGAT4B-
-
-
-
1Loss-
MGRN1-
-
-
-
1Loss-
MGST2-
-
-
-
1Loss-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MICAL1-
-
-
-
1Loss-
MICAL3-
-
-
-
3Gain-
MICALL1-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MIEF1-
-
-
-
3Gain-
MIEF2-
-
-
-
1Loss-
MIER3-
-
-
-
3Gain-
MIF-
-
-
-
3Gain-
MINDY1-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
3Gain-
MIS12-
-
-
-
1Loss-
MITF-
-
-
-
3Gain-
MIXL1-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKNK1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MKRN2-
-
-
-
3Gain-
MKRN2OS-
-
-
-
3Gain-
MKRN3-
-
-
-
3Gain-
MLANA-
-
-
-
1Loss-
MLC1-
-
-
-
3Gain-
MLH1-
-
-
-
3Gain-
MLIPp.P789S
Missense
SNP
0.315
2--
MLKL-
-
-
-
1Loss-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLLT6-
-
-
-
1Loss-
MLNp.E59K
Missense
SNP
0.392
2--
MLST8-
-
-
-
1Loss-
MLXIPL-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMACHC-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMP11-
-
-
-
3Gain-
MMP2-
-
-
-
1Loss-
MMP25-
-
-
-
1Loss-
MMP28-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MMS22L-
-
-
-
0Del-
MN1-
-
-
-
3Gain-
MND1-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB3C-
-
-
-
3Gain-
MOBP-
-
-
-
3Gain-
MOCS2-
-
-
-
3Gain-
MOGAT2-
-
-
-
1Loss-
MOK-
-
-
-
3Gain-
MON1A-
-
-
-
3Gain-
MON1B-
-
-
-
1Loss-
MORC2-
-
-
-
3Gain-
MORC3-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MOSMO-
-
-
-
1Loss-
MOV10L1-
-
-
-
3Gain-
MOXD1-
-
-
-
1Loss-
MPC1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPEG1-
-
-
-
1Loss-
MPG-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPL-
-
-
-
3Gain-
MPPED1-
-
-
-
3Gain-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
3Gain-
MPV17L-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MR1-
-
-
-
3Gain-
MRE11-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGPRD-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRM1-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MRNIP-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2A-
-
-
-
1Loss-
MROH2B-
-
-
-
3Gain-
MROH5-
-
-
-
1Loss-
MROH7-
-
-
-
3Gain-
MROH7-TTC4-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL11-
-
-
-
1Loss-
MRPL13-
-
-
-
1Loss-
MRPL15-
-
-
-
1Loss-
MRPL16-
-
-
-
1Loss-
MRPL18-
-
-
-
1Loss-
MRPL21-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL28-
-
-
-
1Loss-
MRPL36-
-
-
-
3Gain-
MRPL37-
-
-
-
3Gain-
MRPL40-
-
-
-
3Gain-
MRPL45-
-
-
-
1Loss-
MRPL49-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL58p.W110*
Nonsense
SNP
0.497
2--
MRPL9-
-
-
-
3Gain-
MRPS15-
-
-
-
3Gain-
MRPS18C-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS25-
-
-
-
3Gain-
MRPS27-
-
-
-
3Gain-
MRPS30-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MRPS34-
-
-
-
1Loss-
MRPS36-
-
-
-
3Gain-
MRTFB-
-
-
-
1Loss-
MS4A1-
-
-
-
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14-
-
-
-
1Loss-
MS4A15-
-
-
-
1Loss-
MS4A18-
-
-
-
1Loss-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4A-
-
-
-
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
1Loss-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
1Loss-
MS4A7-
-
-
-
1Loss-
MS4A8-
-
-
-
1Loss-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSH3-
-
-
-
3Gain-
MSLN-
-
-
-
1Loss-
MSLNLp.G272D
Missense
SNP
0.299
1Loss-
MSMB-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSRB1-
-
-
-
1Loss-
MST1-
-
-
-
3Gain-
MST1R-
-
-
-
3Gain-
MSTO1-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MSX2-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1HL1-
-
-
-
3Gain-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTA1-
-
-
-
3Gain-
MTA2-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
1Loss-
MTF1-
-
-
-
3Gain-
MTFP1-
-
-
-
3Gain-
MTFR2-
-
-
-
1Loss-
MTG1-
-
-
-
0Del-
MTHFD1L-
-
-
-
1Loss-
MTHFD2L-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTMR10-
-
-
-
3Gain-
MTMR11-
-
-
-
3Gain-
MTMR12-
-
-
-
3Gain-
MTMR14-
-
-
-
3Gain-
MTMR2-
-
-
-
1Loss-
MTMR3-
-
-
-
3Gain-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
3Gain-
MTRF1-
-
-
-
3Gain-
MTRF1L-
-
-
-
1Loss-
MTRR-
-
-
-
3Gain-
MTSS1L-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MTX3-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC15p.E70K
Missense
SNP
0.385
2--
MUC16p.E12604K
Missense
SNP
0.275
2--
MUC20-
-
-
-
3Gain-
MUC4p.P726L
Missense
SNP
0.151
3Gain-
MUC6p.D1114N
Missense
SNP
0.495
2--
MUC7-
-
-
-
1Loss-
MUS81-
-
-
-
1Loss-
MUSTN1-
-
-
-
3Gain-
MUTYH-
-
-
-
3Gain-
MVD-
-
-
-
1Loss-
MVKp.A111V
Missense
DNP
0.449
2--
MX1-
-
-
-
1Loss-
MX2p.P46S
Missense
SNP
0.615
1Loss-
MXD4-
-
-
-
1Loss-
MYB-
-
-
-
1Loss-
MYBPH-
-
-
-
3Gain-
MYCBP-
-
-
-
3Gain-
MYCBP2p.P2294S
Missense
SNP
0.680
4Gain-
MYCL-
-
-
-
3Gain-
MYCT1-
-
-
-
1Loss-
MYD88-
-
-
-
3Gain-
MYEF2-
-
-
-
1Loss-
MYEOV-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH11-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6p.E22K
Missense
SNP
0.548
2--
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
3Gain-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL3-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYO10-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO16-
-
-
-
3Gain-
MYO18A-
-
-
-
1Loss-
MYO18Bp.A2177T
Missense
SNP
0.441
3Gain-
MYO19-
-
-
-
1Loss-
MYO1D-
-
-
-
1Loss-
MYO3Bp.H154Y
Missense
SNP
0.436
2--
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO6p.H434Y
Missense
SNP
0.471
2--
MYO7A-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM1-
-
-
-
1Loss-
MYOM2-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYRIP-
-
-
-
3Gain-
MYSM1-
-
-
-
3Gain-
MYZAP-
-
-
-
1Loss-
MZF1-
-
-
-
1Loss-
MZT1-
-
-
-
4Gain-
N4BP1-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA16-
-
-
-
3Gain-
NAA25p.X95_splice
Splice_Site
SNP
0.504
2--
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAA60-
-
-
-
1Loss-
NAA80-
-
-
-
3Gain-
NAAA-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NAALADL2p.H241L
Missense
SNP
0.240
2--
NADK2-
-
-
-
3Gain-
NADSYN1-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAF1-
-
-
-
1Loss-
NAGA-
-
-
-
3Gain-
NAGPA-
-
-
-
1Loss-
NAIP-
-
-
-
3Gain-
NALCN-
-
-
-
3Gain-
NANOGP8-
-
-
-
3Gain-
NANOS2-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPA-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NARS2-
-
-
-
1Loss-
NASP-
-
-
-
3Gain-
NAT1-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NAT8L-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV1-
-
-
-
3Gain-
NAXD-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBEAL2-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCAM1-
-
-
-
1Loss-
NCAM2-
-
-
-
3Gain-
NCAPD3-
-
-
-
1Loss-
NCAPG-
-
-
-
1Loss-
NCAPH2-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCDN-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
3Gain-
NCKIPSD-
-
-
-
3Gain-
NCL-
-
-
-
1Loss-
NCOA2-
-
-
-
1Loss-
NCOA4-
-
-
-
1Loss-
NCOA7-
-
-
-
0Del-
NCOR1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDC1-
-
-
-
3Gain-
NDC80-
-
-
-
1Loss-
NDE1-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDFIP2-
-
-
-
4Gain-
NDN-
-
-
-
3Gain-
NDNF-
-
-
-
1Loss-
NDRG1-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
3Gain-
NDUFAB1-
-
-
-
1Loss-
NDUFAF1-
-
-
-
3Gain-
NDUFAF2-
-
-
-
3Gain-
NDUFAF3-
-
-
-
3Gain-
NDUFAF4-
-
-
-
0Del-
NDUFB10-
-
-
-
1Loss-
NDUFB2-
-
-
-
3Gain-
NDUFB9p.X137_splice
Splice_Site
SNP
0.588
2--
NDUFC1-
-
-
-
1Loss-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS1p.X435_splice
Splice_Site
SNP
0.517
2--
NDUFS2-
-
-
-
3Gain-
NDUFS4-
-
-
-
3Gain-
NDUFS5-
-
-
-
3Gain-
NDUFS6-
-
-
-
3Gain-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NEBp.R3149K
p.G714E
Missense
Missense
SNP
SNP
0.543
0.509
2--
NECAB2-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEFH-
-
-
-
3Gain-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK10-
-
-
-
3Gain-
NEK2-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
3Gain-
NEK5-
-
-
-
1Loss-
NEK7-
-
-
-
3Gain-
NEK8-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NEUROG2-
-
-
-
1Loss-
NF1p.A1224V
Missense
SNP
1.000
1Loss-
NF2-
-
-
-
3Gain-
NFAM1-
-
-
-
3Gain-
NFASC-
-
-
-
3Gain-
NFAT5-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2IP-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFIA-
-
-
-
3Gain-
NFIBp.S74F
Missense
SNP
0.989
1Loss-
NFKB1-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NFYC-
-
-
-
3Gain-
NGEFp.P544L
Missense
DNP
0.313
1Loss-
NGLY1-
-
-
-
3Gain-
NHEJ1p.S188F
Missense
SNP
0.406
2--
NHLH1-
-
-
-
3Gain-
NHLRC3-
-
-
-
3Gain-
NHLRC4-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NHSL1-
-
-
-
1Loss-
NICN1-
-
-
-
3Gain-
NID1p.R838C
Missense
SNP
0.435
3Gain-
NIM1K-
-
-
-
3Gain-
NIP7-
-
-
-
1Loss-
NIPA1-
-
-
-
3Gain-
NIPA2-
-
-
-
3Gain-
NIPBL-
-
-
-
3Gain-
NIPSNAP1-
-
-
-
3Gain-
NISCH-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN1-
-
-
-
3Gain-
NKAIN2-
-
-
-
0Del-
NKAPD1-
-
-
-
1Loss-
NKD1-
-
-
-
1Loss-
NKD2-
-
-
-
3Gain-
NKG7-
-
-
-
1Loss-
NKIRAS1-
-
-
-
3Gain-
NKTR-
-
-
-
3Gain-
NKX1-1-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NLE1-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLK-
-
-
-
1Loss-
NLN-
-
-
-
3Gain-
NLRC3-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP3-
-
-
-
3Gain-
NLRP4p.E21K
Missense
SNP
0.620
2--
NLRP7p.S1025F
Missense
SNP
0.273
2--
NLRP8p.E38K
Missense
SNP
0.416
2--
NLRP9p.S411F
Missense
SNP
0.691
2--
NLRX1-
-
-
-
1Loss-
NMBR-
-
-
-
1Loss-
NME3-
-
-
-
1Loss-
NME4-
-
-
-
1Loss-
NME6-
-
-
-
3Gain-
NME7-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMRAL1-
-
-
-
1Loss-
NMU-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOA1-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOCT-
-
-
-
1Loss-
NOD2-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOMO1-
-
-
-
1Loss-
NOMO2-
-
-
-
1Loss-
NOMO3-
-
-
-
1Loss-
NOP10-
-
-
-
3Gain-
NOP14-
-
-
-
1Loss-
NOP53-
-
-
-
1Loss-
NOS1AP-
-
-
-
3Gain-
NOS2p.P4L
Missense
SNP
1.000
1Loss-
NOSIP-
-
-
-
1Loss-
NOTCH1p.P362S
Missense
SNP
0.543
2--
NOTCH2NLA-
-
-
-
3Gain-
NOV-
-
-
-
1Loss-
NOVA2-
-
-
-
1Loss-
NOX3-
-
-
-
1Loss-
NOX4-
-
-
-
1Loss-
NOXO1-
-
-
-
1Loss-
NPAP1p.P423L
Missense
SNP
0.610
3Gain-
NPAS1-
-
-
-
1Loss-
NPAS4-
-
-
-
1Loss-
NPAT-
-
-
-
1Loss-
NPBWR1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPHS2-
-
-
-
3Gain-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPIPB2-
-
-
-
1Loss-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPIPB7-
-
-
-
1Loss-
NPIPB8-
-
-
-
1Loss-
NPL-
-
-
-
3Gain-
NPLOC4p.S546F
Missense
SNP
0.589
2--
NPM1-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NPRL2-
-
-
-
3Gain-
NPRL3-
-
-
-
1Loss-
NPTXR-
-
-
-
3Gain-
NPW-
-
-
-
1Loss-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR1D2-
-
-
-
3Gain-
NR1H4p.P11S
Missense
SNP
0.535
2--
NR1I3-
-
-
-
3Gain-
NR2C2-
-
-
-
3Gain-
NR2E1-
-
-
-
0Del-
NR2F1-
-
-
-
3Gain-
NR3C2-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRDCp.G298R
Missense
SNP
0.610
3Gain-
NRF1-
-
-
-
3Gain-
NRG1p.K80E
Missense
SNP
0.700
2--
NRGN-
-
-
-
1Loss-
NRIP1-
-
-
-
1Loss-
NRKp.G1030E
Missense
SNP
1.000
NDND-
NRN1L-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRXN1-
-
-
-
1Loss-
NRXN2-
-
-
-
1Loss-
NRXN3p.L415H
Missense
SNP
0.453
2--
NSA2-
-
-
-
3Gain-
NSD2-
-
-
-
1Loss-
NSF-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMAFp.D355N
Missense
SNP
0.514
2--
NSMCE1-
-
-
-
1Loss-
NSMCE3-
-
-
-
3Gain-
NSRP1-
-
-
-
1Loss-
NSUN2-
-
-
-
3Gain-
NSUN3-
-
-
-
3Gain-
NSUN4-
-
-
-
3Gain-
NSUN5-
-
-
-
1Loss-
NT5C1A-
-
-
-
3Gain-
NT5DC1-
-
-
-
0Del-
NT5DC2-
-
-
-
3Gain-
NT5DC4p.G86E
Missense
SNP
0.423
2--
NT5M-
-
-
-
1Loss-
NTAN1-
-
-
-
1Loss-
NTF4-
-
-
-
1Loss-
NTHL1-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTN3-
-
-
-
1Loss-
NTN5-
-
-
-
1Loss-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUBP1-
-
-
-
1Loss-
NUBP2-
-
-
-
1Loss-
NUCB1-
-
-
-
1Loss-
NUCKS1-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT12-
-
-
-
3Gain-
NUDT14-
-
-
-
3Gain-
NUDT16L1-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT19-
-
-
-
3Gain-
NUDT21-
-
-
-
1Loss-
NUDT22-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUDT6-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUDT8-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUF2-
-
-
-
3Gain-
NUFIP1-
-
-
-
3Gain-
NUFIP2-
-
-
-
1Loss-
NUMA1p.E653Q
Missense
DNP
1.000
1Loss-
NUP133-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP188p.S831F
Missense
SNP
0.331
2--
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NUP43-
-
-
-
1Loss-
NUP50-
-
-
-
3Gain-
NUP54-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUPR1-
-
-
-
1Loss-
NUS1-
-
-
-
0Del-
NUSAP1-
-
-
-
3Gain-
NUTF2-
-
-
-
1Loss-
NUTM1-
-
-
-
3Gain-
NVL-
-
-
-
3Gain-
NXF1-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NXPH1-
-
-
-
3Gain-
OAF-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBFC1p.L351Q
Missense
SNP
0.668
NDND-
OBSCN-
-
-
-
3Gain-
OCA2-
-
-
-
3Gain-
OCLM-
-
-
-
3Gain-
OCLN-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF3B-
-
-
-
3Gain-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGDHL-
-
-
-
1Loss-
OGFOD1-
-
-
-
1Loss-
OGG1-
-
-
-
3Gain-
OIP5-
-
-
-
3Gain-
OLFM4-
-
-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLIG3-
-
-
-
1Loss-
OMA1-
-
-
-
3Gain-
OMG-
-
-
-
1Loss-
OMP-
-
-
-
1Loss-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPCML-
-
-
-
1Loss-
OPHN1p.E733K
Missense
SNP
1.000
NDND-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPRD1-
-
-
-
3Gain-
OPRK1-
-
-
-
1Loss-
OPRM1-
-
-
-
1Loss-
OPRPN-
-
-
-
1Loss-
OPTC-
-
-
-
3Gain-
OR10A7-
-
-
-
3Gain-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G2p.G2E
Missense
SNP
0.374
2--
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10P1-
-
-
-
3Gain-
OR10Q1-
-
-
-
1Loss-
OR10R2-
-
-
-
3Gain-
OR10S1-
-
-
-
1Loss-
OR10T2-
-
-
-
3Gain-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR13A1-
-
-
-
1Loss-
OR13F1p.R307K
Missense
SNP
0.555
2--
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36p.N170K
Missense
SNP
0.368
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1F1-
-
-
-
1Loss-
OR1N1p.S91F
Missense
SNP
0.486
2--
OR1S1-
-
-
-
1Loss-
OR1S2-
-
-
-
1Loss-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A4-
-
-
-
1Loss-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2AP1-
-
-
-
3Gain-
OR2AT4-
-
-
-
1Loss-
OR2B11-
-
-
-
3Gain-
OR2C1-
-
-
-
1Loss-
OR2C3-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W3p.S67F
Missense
SNP
0.602
3Gain-
OR2Y1-
-
-
-
1Loss-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47p.S76F
Missense
SNP
0.476
2--
OR4A5-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C3p.S181L
Missense
SNP
0.420
2--
OR4C46p.P259L
Missense
SNP
1.000
1Loss-
OR4C6-
-
-
-
1Loss-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D5-
-
-
-
1Loss-
OR4D6-
-
-
-
1Loss-
OR4D9-
-
-
-
1Loss-
OR4M2-
-
-
-
3Gain-
OR4N4-
-
-
-
3Gain-
OR4P4-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR51E1p.V52L
Missense
SNP
0.475
2--
OR51Q1p.S310F
Missense
SNP
0.504
2--
OR52D1p.P288L
Missense
SNP
0.530
2--
OR52E5p.P81S
Missense
SNP
0.552
2--
OR56A4p.G15S
Missense
SNP
0.574
2--
OR5A1-
-
-
-
1Loss-
OR5A2-
-
-
-
1Loss-
OR5AK2-
-
-
-
1Loss-
OR5AN1-
-
-
-
1Loss-
OR5AP2-
-
-
-
1Loss-
OR5AR1-
-
-
-
1Loss-
OR5AS1-
-
-
-
1Loss-
OR5B12-
-
-
-
1Loss-
OR5B17-
-
-
-
1Loss-
OR5B2-
-
-
-
1Loss-
OR5B21-
-
-
-
1Loss-
OR5B3-
-
-
-
1Loss-
OR5D13-
-
-
-
1Loss-
OR5D14-
-
-
-
1Loss-
OR5D16-
-
-
-
1Loss-
OR5D18-
-
-
-
1Loss-
OR5F1-
-
-
-
1Loss-
OR5H1p.Y251*
Nonsense
SNP
0.219
2--
OR5I1-
-
-
-
1Loss-
OR5J2-
-
-
-
1Loss-
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5M1-
-
-
-
1Loss-
OR5M10-
-
-
-
1Loss-
OR5M11-
-
-
-
1Loss-
OR5M3-
-
-
-
1Loss-
OR5M8-
-
-
-
1Loss-
OR5M9-
-
-
-
1Loss-
OR5R1-
-
-
-
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5W2-
-
-
-
1Loss-
OR6B1-
-
-
-
3Gain-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76p.L61F
Missense
SNP
0.496
3Gain-
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1-
-
-
-
1Loss-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Q1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8H1-
-
-
-
1Loss-
OR8H2-
-
-
-
1Loss-
OR8H3-
-
-
-
1Loss-
OR8I2-
-
-
-
1Loss-
OR8J1-
-
-
-
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K1p.L165P
Missense
SNP
1.000
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8U1-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
OR9A4p.L65F
Missense
SNP
0.326
3Gain-
OR9G1-
-
-
-
1Loss-
OR9G4-
-
-
-
1Loss-
OR9I1-
-
-
-
1Loss-
OR9K2-
-
-
-
3Gain-
OR9Q1-
-
-
-
1Loss-
OR9Q2-
-
-
-
1Loss-
ORC1-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
OSBP-
-
-
-
1Loss-
OSBP2-
-
-
-
3Gain-
OSBPL10-
-
-
-
3Gain-
OSBPL9-
-
-
-
3Gain-
OSCP1-
-
-
-
3Gain-
OSER1-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OSM-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OSTC-
-
-
-
1Loss-
OSTM1-
-
-
-
0Del-
OSTN-
-
-
-
3Gain-
OTOA-
-
-
-
1Loss-
OTOP1-
-
-
-
1Loss-
OTOP2p.M373I
Missense
SNP
0.505
2--
OTORp.D54N
Missense
SNP
0.573
2--
OTP-
-
-
-
3Gain-
OTUB1-
-
-
-
1Loss-
OTUD4-
-
-
-
1Loss-
OTUD7A-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OVOL1-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXCT2-
-
-
-
3Gain-
OXGR1-
-
-
-
3Gain-
OXNAD1-
-
-
-
3Gain-
OXSM-
-
-
-
3Gain-
OXSR1-
-
-
-
3Gain-
OXTR-
-
-
-
3Gain-
P2RX3-
-
-
-
1Loss-
P2RX6-
-
-
-
3Gain-
P3H1-
-
-
-
3Gain-
P3H2p.G660R
Missense
SNP
0.730
3Gain-
P4HA3-
-
-
-
1Loss-
P4HTM-
-
-
-
3Gain-
PABPC4-
-
-
-
3Gain-
PABPC4L-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACRG-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACS1-
-
-
-
1Loss-
PACS2-
-
-
-
3Gain-
PACSIN2-
-
-
-
3Gain-
PAFAH1B2-
-
-
-
1Loss-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAK1-
-
-
-
1Loss-
PAK2-
-
-
-
3Gain-
PAK5p.P108L
Missense
SNP
0.469
2--
PAK6p.G340S
Missense
SNP
0.383
3Gain-
PALB2-
-
-
-
1Loss-
PALLD-
-
-
-
1Loss-
PAM-
-
-
-
3Gain-
PAM16-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PANX1-
-
-
-
1Loss-
PANX2-
-
-
-
3Gain-
PANX3-
-
-
-
1Loss-
PAOX-
-
-
-
0Del-
PAPOLB-
-
-
-
3Gain-
PAPSS1-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR4-
-
-
-
1Loss-
PAQR6-
-
-
-
3Gain-
PARD6A-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARM1-
-
-
-
1Loss-
PARN-
-
-
-
1Loss-
PARP1-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP3-
-
-
-
3Gain-
PARP8-
-
-
-
3Gain-
PARS2-
-
-
-
3Gain-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATJ-
-
-
-
3Gain-
PATL1-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PATZ1-
-
-
-
3Gain-
PAX2p.G155E
Missense
SNP
0.665
2--
PAX4-
-
-
-
3Gain-
PBOV1-
-
-
-
1Loss-
PBRM1-
-
-
-
3Gain-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PC-
-
-
-
1Loss-
PCBP3p.A108L
Missense
DNP
0.523
2--
PCBP4-
-
-
-
3Gain-
PCCAp.N281Y
Missense
SNP
0.522
3Gain-
PCDH10-
-
-
-
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
1Loss-
PCDH20-
-
-
-
3Gain-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9p.P230S
Missense
SNP
0.740
5Amp-
PCDHB9p.Y309*
Nonsense
SNP
1.000
2--
PCDHGB2p.P153S
Missense
SNP
1.000
2--
PCF11p.L1111I
Missense
SNP
1.000
1Loss-
PCGF2-
-
-
-
1Loss-
PCGF3-
-
-
-
1Loss-
PCID2-
-
-
-
3Gain-
PCLOp.G1750E
p.G396R
Missense
Missense
SNP
SNP
0.691
0.644
2--
PCMT1-
-
-
-
1Loss-
PCNX1p.P2118S
Missense
SNP
0.537
2--
PCNX2-
-
-
-
3Gain-
PCNX3-
-
-
-
1Loss-
PCP4-
-
-
-
1Loss-
PCP4L1-
-
-
-
3Gain-
PCSK1-
-
-
-
3Gain-
PCSK5p.E1310K
Missense
SNP
0.488
2--
PCSK7-
-
-
-
1Loss-
PCSK9-
-
-
-
3Gain-
PCYT1A-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD2-
-
-
-
1Loss-
PDCD2L-
-
-
-
3Gain-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
3Gain-
PDCL2-
-
-
-
1Loss-
PDE10A-
-
-
-
1Loss-
PDE11Ap.A590T
Missense
SNP
0.532
2--
PDE12-
-
-
-
3Gain-
PDE2A-
-
-
-
1Loss-
PDE4B-
-
-
-
3Gain-
PDE4Dp.D636N
Missense
SNP
0.418
3Gain-
PDE4DIPp.R430*
Nonsense
SNP
0.580
3Gain-
PDE5A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE7B-
-
-
-
1Loss-
PDE8B-
-
-
-
3Gain-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
3Gain-
PDGFC-
-
-
-
1Loss-
PDGFRA-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDHB-
-
-
-
3Gain-
PDIA2-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDILT-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDSS2-
-
-
-
0Del-
PDXDC1-
-
-
-
1Loss-
PDZD2-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PDZD8p.C884Y
Missense
SNP
0.291
2--
PDZD9-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZK1IP1-
-
-
-
3Gain-
PDZRN3-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEF1-
-
-
-
3Gain-
PEG3-
-
-
-
1Loss-
PELI3-
-
-
-
1Loss-
PELO-
-
-
-
3Gain-
PELP1p.Q1101*
Nonsense
SNP
0.523
2--
PEMT-
-
-
-
1Loss-
PENKp.R209Q
Missense
SNP
0.326
2--
PEPD-
-
-
-
3Gain-
PER1-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PES1-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX12-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX26-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFKFB4-
-
-
-
3Gain-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGBD2-
-
-
-
3Gain-
PGBD4-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGLYRP1-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM1-
-
-
-
3Gain-
PGM2L1-
-
-
-
1Loss-
PGP-
-
-
-
1Loss-
PGRMC2-
-
-
-
1Loss-
PHACTR2-
-
-
-
1Loss-
PHC2-
-
-
-
5Amp-
PHETA2-
-
-
-
3Gain-
PHF10-
-
-
-
1Loss-
PHF12-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF21B-
-
-
-
3Gain-
PHF23-
-
-
-
1Loss-
PHF7-
-
-
-
3Gain-
PHGR1-
-
-
-
3Gain-
PHKA1p.G421R
Missense
SNP
1.000
NDND-
PHKA2p.E685K
Missense
SNP
1.000
NDND-
PHKB-
-
-
-
1Loss-
PHLDA3-
-
-
-
3Gain-
PHLDB1-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHOX2A-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PI4KA-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIBF1-
-
-
-
4Gain-
PICALM-
-
-
-
1Loss-
PICK1-
-
-
-
3Gain-
PIEZO1-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGC-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGP-
-
-
-
1Loss-
PIGQ-
-
-
-
1Loss-
PIGR-
-
-
-
3Gain-
PIGS-
-
-
-
1Loss-
PIGW-
-
-
-
1Loss-
PIGXp.G241R
Missense
SNP
0.811
3Gain-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
3Gain-
PIH1D1-
-
-
-
1Loss-
PIH1D2-
-
-
-
1Loss-
PIK3C2B-
-
-
-
3Gain-
PIK3C3-
-
-
-
3Gain-
PIK3IP1-
-
-
-
3Gain-
PIK3R1-
-
-
-
3Gain-
PIK3R3-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6p.G349E
Missense
SNP
0.992
1Loss-
PIM3-
-
-
-
3Gain-
PIMREG-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP4K2B-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIPOX-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
3Gain-
PITPNB-
-
-
-
3Gain-
PITPNM1-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PIWIL3-
-
-
-
3Gain-
PIWIL4-
-
-
-
1Loss-
PKD1-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKDREJ-
-
-
-
3Gain-
PKHD1p.W2631*
p.G919N
Nonsense
Missense
SNP
DNP
0.633
0.606
2--
PKHD1L1p.T691I
Missense
SNP
0.296
2--
PKIAp.R58*
Nonsense
SNP
0.600
2--
PKIB-
-
-
-
0Del-
PKLR-
-
-
-
3Gain-
PKMYT1-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PLA2G10-
-
-
-
1Loss-
PLA2G12A-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G3-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
3Gain-
PLA2G4C-
-
-
-
1Loss-
PLA2G4Dp.E277K
Missense
SNP
0.618
3Gain-
PLA2G4E-
-
-
-
3Gain-
PLA2G4F-
-
-
-
1Loss-
PLA2G6-
-
-
-
3Gain-
PLA2R1p.H329Y
Missense
SNP
0.513
2--
PLAC8-
-
-
-
1Loss-
PLAGL1-
-
-
-
1Loss-
PLCB1p.A10S
Missense
SNP
0.496
2--
PLCB2-
-
-
-
3Gain-
PLCB3-
-
-
-
1Loss-
PLCD1-
-
-
-
3Gain-
PLCE1p.E88K
Missense
SNP
0.695
2--
PLCG2-
-
-
-
1Loss-
PLCL2-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLD2p.S734F
Missense
SNP
0.494
2--
PLD4-
-
-
-
3Gain-
PLD5-
-
-
-
3Gain-
PLD6-
-
-
-
1Loss-
PLECp.T3060I
Missense
SNP
0.644
2--
PLEKHA4-
-
-
-
1Loss-
PLEKHA6p.D531N
Missense
SNP
0.599
3Gain-
PLEKHA8p.L382F
Missense
SNP
0.552
2--
PLEKHB1-
-
-
-
1Loss-
PLEKHG1-
-
-
-
1Loss-
PLEKHG4p.P765Q
Missense
DNP
1.000
1Loss-
PLEKHG4B-
-
-
-
3Gain-
PLEKHM2-
-
-
-
1Loss-
PLEKHO1-
-
-
-
3Gain-
PLET1-
-
-
-
1Loss-
PLG-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLK1-
-
-
-
1Loss-
PLK2-
-
-
-
3Gain-
PLK3-
-
-
-
3Gain-
PLK4-
-
-
-
1Loss-
PLN-
-
-
-
0Del-
PLPP1-
-
-
-
3Gain-
PLPP3-
-
-
-
3Gain-
PLPP6-
-
-
-
1Loss-
PLRG1-
-
-
-
1Loss-
PLS1p.R399K
Missense
SNP
0.542
2--
PLSCR3-
-
-
-
1Loss-
PLSCR5p.T208I
Missense
SNP
0.733
2--
PLXDC1-
-
-
-
1Loss-
PLXNA2-
-
-
-
3Gain-
PLXNA4p.E1220K
Missense
SNP
0.379
3Gain-
PLXNB1-
-
-
-
3Gain-
PLXNB2p.P363S
Missense
SNP
0.559
3Gain-
PM20D1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMFBP1-
-
-
-
1Loss-
PMM2-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNISR-
-
-
-
0Del-
PNLDC1-
-
-
-
1Loss-
PNMA8A-
-
-
-
1Loss-
PNMA8B-
-
-
-
1Loss-
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
POC1Ap.P335S
Missense
DNP
0.355
3Gain-
POC5-
-
-
-
3Gain-
PODN-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLA2-
-
-
-
1Loss-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLDIP2-
-
-
-
1Loss-
POLDIP3-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
3Gain-
POLN-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2F-
-
-
-
3Gain-
POLR2G-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR2M-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3E-
-
-
-
1Loss-
POLR3G-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLR3K-
-
-
-
1Loss-
POM121-
-
-
-
1Loss-
POMGNT1-
-
-
-
3Gain-
POMGNT2p.E531K
Missense
SNP
0.565
3Gain-
POPDC3-
-
-
-
0Del-
POT1-
-
-
-
3Gain-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POTED-
-
-
-
1Loss-
POTEHp.T462I
Missense
SNP
0.116
NDND-
POU1F1-
-
-
-
3Gain-
POU2AF1-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU2F3-
-
-
-
1Loss-
POU3F1-
-
-
-
3Gain-
POU3F2-
-
-
-
1Loss-
POU4F1-
-
-
-
4Gain-
POU4F2-
-
-
-
1Loss-
POU5F2-
-
-
-
3Gain-
PP2D1-
-
-
-
3Gain-
PPA2-
-
-
-
1Loss-
PPARA-
-
-
-
3Gain-
PPARG-
-
-
-
3Gain-
PPARGC1A-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPCS-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPFIA1-
-
-
-
1Loss-
PPFIA3-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPID-
-
-
-
1Loss-
PPIE-
-
-
-
3Gain-
PPIH-
-
-
-
3Gain-
PPIL2-
-
-
-
3Gain-
PPIL4-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
3Gain-
PPL-
-
-
-
1Loss-
PPM1Dp.P426L
Missense
SNP
0.387
2--
PPM1F-
-
-
-
3Gain-
PPM1K-
-
-
-
1Loss-
PPM1M-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1CA-
-
-
-
1Loss-
PPP1R12B-
-
-
-
3Gain-
PPP1R13B-
-
-
-
3Gain-
PPP1R14B-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R14D-
-
-
-
3Gain-
PPP1R15A-
-
-
-
1Loss-
PPP1R15B-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R32-
-
-
-
1Loss-
PPP1R3Ap.V205A
Missense
SNP
0.378
3Gain-
PPP2R1A-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R5A-
-
-
-
3Gain-
PPP2R5B-
-
-
-
1Loss-
PPP2R5C-
-
-
-
3Gain-
PPP3CA-
-
-
-
1Loss-
PPP4R2-
-
-
-
3Gain-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPP6R2-
-
-
-
3Gain-
PPP6R3p.P66F
Missense
DNP
1.000
1Loss-
PPT1-
-
-
-
3Gain-
PPWD1-
-
-
-
3Gain-
PQLC1-
-
-
-
1Loss-
PRAME-
-
-
-
3Gain-
PRAMEF20p.E21K
Missense
SNP
0.661
2--
PRAP1-
-
-
-
0Del-
PRB3-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRCP-
-
-
-
1Loss-
PRDM1-
-
-
-
0Del-
PRDM10-
-
-
-
1Loss-
PRDM13-
-
-
-
0Del-
PRDM14-
-
-
-
1Loss-
PRDM15-
-
-
-
1Loss-
PRDM5-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX1-
-
-
-
3Gain-
PRDX5-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PREP-
-
-
-
0Del-
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRICKLE2-
-
-
-
3Gain-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKAA2-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2A-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKCD-
-
-
-
3Gain-
PRKD2-
-
-
-
1Loss-
PRKD3p.P399S
Missense
SNP
0.508
2--
PRKG2-
-
-
-
1Loss-
PRKN-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRM1-
-
-
-
1Loss-
PRM2-
-
-
-
1Loss-
PRM3-
-
-
-
1Loss-
PRMT1-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRMT9-
-
-
-
1Loss-
PROCA1-
-
-
-
1Loss-
PRODH-
-
-
-
3Gain-
PROK2-
-
-
-
3Gain-
PROM1-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROS1-
-
-
-
3Gain-
PROSER1p.P435F
Missense
DNP
0.396
3Gain-
PROSER2p.S365F
Missense
DNP
0.409
2--
PROX1-
-
-
-
3Gain-
PROZ-
-
-
-
3Gain-
PRPF19-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF38A-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR12-
-
-
-
1Loss-
PRR14L-
-
-
-
3Gain-
PRR18-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR35-
-
-
-
1Loss-
PRR4-
-
-
-
1Loss-
PRR5-
-
-
-
3Gain-
PRR5-ARHGAP8-
-
-
-
3Gain-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRG2-
-
-
-
1Loss-
PRRT3-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS12-
-
-
-
1Loss-
PRSS2-
-
-
-
3Gain-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS23-
-
-
-
1Loss-
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS37-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS41-
-
-
-
1Loss-
PRSS42-
-
-
-
3Gain-
PRSS45-
-
-
-
3Gain-
PRSS48-
-
-
-
1Loss-
PRSS50-
-
-
-
3Gain-
PRSS56-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRTFDC1p.T148I
Missense
SNP
0.570
2--
PRTG-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PSAPL1-
-
-
-
1Loss-
PSCA-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSIP1-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSMA4-
-
-
-
1Loss-
PSMB1-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMB2-
-
-
-
3Gain-
PSMB3-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMC6p.S225R
Missense
SNP
0.567
2--
PSMD1-
-
-
-
1Loss-
PSMD11-
-
-
-
1Loss-
PSMD2-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD6-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSMG1-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSTPIP1p.R103Q
Missense
DNP
0.585
2--
PTCD2-
-
-
-
3Gain-
PTCH2-
-
-
-
3Gain-
PTGDR2-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTGIR-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH1R-
-
-
-
3Gain-
PTH2-
-
-
-
1Loss-
PTK2-
-
-
-
1Loss-
PTMA-
-
-
-
1Loss-
PTN-
-
-
-
3Gain-
PTP4A2-
-
-
-
3Gain-
PTP4A3-
-
-
-
1Loss-
PTPN13-
-
-
-
1Loss-
PTPN14-
-
-
-
3Gain-
PTPN20-
-
-
-
1Loss-
PTPN23-
-
-
-
3Gain-
PTPN7-
-
-
-
3Gain-
PTPRBp.E1677K
Missense
SNP
0.568
2--
PTPRC-
-
-
-
3Gain-
PTPRCAP-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRF-
-
-
-
3Gain-
PTPRG-
-
-
-
3Gain-
PTPRK-
-
-
-
0Del-
PTPRM-
-
-
-
1Loss-
PTPROp.G614E
Missense
SNP
0.512
2--
PTPRU-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PTX4-
-
-
-
1Loss-
PUM1-
-
-
-
3Gain-
PUM3-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PVALB-
-
-
-
3Gain-
PXDNp.E362K
Missense
SNP
0.485
2--
PXK-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYGM-
-
-
-
1Loss-
PYGO1-
-
-
-
1Loss-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYURF-
-
-
-
1Loss-
QARSp.X40_splice
Splice_Site
SNP
0.667
3Gain-
QDPR-
-
-
-
1Loss-
QKI-
-
-
-
1Loss-
QPCTL-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QRICH1-
-
-
-
3Gain-
QRSL1-
-
-
-
0Del-
QSOX1-
-
-
-
3Gain-
RAB11FIP3-
-
-
-
1Loss-
RAB11FIP4-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB19-
-
-
-
3Gain-
RAB1B-
-
-
-
1Loss-
RAB20-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB26-
-
-
-
1Loss-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB29-
-
-
-
3Gain-
RAB30-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB34-
-
-
-
1Loss-
RAB36-
-
-
-
3Gain-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3B-
-
-
-
3Gain-
RAB3Cp.G166R
Missense
SNP
0.449
3Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB3IL1-
-
-
-
1Loss-
RAB40C-
-
-
-
1Loss-
RAB4A-
-
-
-
3Gain-
RAB5A-
-
-
-
3Gain-
RAB6A-
-
-
-
1Loss-
RABEP2-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RABL2B-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
3Gain-
RACK1-
-
-
-
1Loss-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
3Gain-
RAD18-
-
-
-
3Gain-
RAD21-
-
-
-
1Loss-
RAD51-
-
-
-
3Gain-
RAD51D-
-
-
-
1Loss-
RAD51L3-RFFL-
-
-
-
1Loss-
RAD54L-
-
-
-
3Gain-
RAD54L2-
-
-
-
3Gain-
RAD9A-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAF1-
-
-
-
3Gain-
RAI1-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RALYLp.K205N
Missense
SNP
0.667
2--
RAMACL-
-
-
-
1Loss-
RANBP1-
-
-
-
3Gain-
RANBP10-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2p.S599Y
Missense
SNP
0.644
2--
RAP1GDS1-
-
-
-
1Loss-
RAP2A-
-
-
-
3Gain-
RAPGEF2-
-
-
-
1Loss-
RARB-
-
-
-
3Gain-
RARRES3-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RASA1-
-
-
-
3Gain-
RASA3-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGEF1C-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
3Gain-
RASGRP1-
-
-
-
3Gain-
RASGRP2-
-
-
-
1Loss-
RASIP1-
-
-
-
1Loss-
RASL10A-
-
-
-
3Gain-
RASL10B-
-
-
-
1Loss-
RASL11B-
-
-
-
1Loss-
RASSF1-
-
-
-
3Gain-
RASSF4-
-
-
-
1Loss-
RASSF5-
-
-
-
3Gain-
RASSF6-
-
-
-
1Loss-
RAVER2-
-
-
-
3Gain-
RAX-
-
-
-
1Loss-
RB1CC1-
-
-
-
1Loss-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
5Amp-
RBBP5-
-
-
-
3Gain-
RBBP6-
-
-
-
1Loss-
RBFA-
-
-
-
1Loss-
RBFOX1-
-
-
-
1Loss-
RBFOX2-
-
-
-
3Gain-
RBL2-
-
-
-
1Loss-
RBM11-
-
-
-
1Loss-
RBM12Bp.S68F
Missense
SNP
0.641
2--
RBM14-
-
-
-
1Loss-
RBM14-RBM4-
-
-
-
1Loss-
RBM15B-
-
-
-
3Gain-
RBM26-
-
-
-
4Gain-
RBM28-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM4-
-
-
-
1Loss-
RBM46-
-
-
-
1Loss-
RBM4B-
-
-
-
1Loss-
RBM5-
-
-
-
3Gain-
RBM6-
-
-
-
3Gain-
RBM7-
-
-
-
1Loss-
RBM8Ap.G61S
Missense
SNP
0.361
3Gain-
RBMS3-
-
-
-
3Gain-
RBP3-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBSN-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCE1-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN3-
-
-
-
1Loss-
RCOR1-
-
-
-
3Gain-
RCOR2-
-
-
-
1Loss-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
3Gain-
RDM1-
-
-
-
1Loss-
RDX-
-
-
-
1Loss-
REELD1-
-
-
-
1Loss-
RELA-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELNp.G3030E
Missense
SNP
0.308
NDND-
REN-
-
-
-
3Gain-
REPS1-
-
-
-
1Loss-
RERGLp.K140M
Missense
SNP
0.508
2--
REST-
-
-
-
1Loss-
RET-
-
-
-
1Loss-
RETREG1-
-
-
-
3Gain-
REV3L-
-
-
-
0Del-
REXO2-
-
-
-
1Loss-
REXO5-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFESD-
-
-
-
3Gain-
RFFL-
-
-
-
1Loss-
RFPL1-
-
-
-
3Gain-
RFPL2-
-
-
-
3Gain-
RFPL3-
-
-
-
3Gain-
RFPL4B-
-
-
-
0Del-
RFT1-
-
-
-
3Gain-
RFTN1-
-
-
-
3Gain-
RFWD3-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX6-
-
-
-
0Del-
RFX7-
-
-
-
1Loss-
RGCC-
-
-
-
3Gain-
RGL1-
-
-
-
3Gain-
RGL4-
-
-
-
3Gain-
RGMAp.P150L
Missense
SNP
0.629
2--
RGMB-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS11-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS17-
-
-
-
1Loss-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS20-
-
-
-
1Loss-
RGS21-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS7BP-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGS9p.A186T
Missense
SNP
0.382
2--
RGS9BP-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBDD3-
-
-
-
3Gain-
RHBDF1-
-
-
-
1Loss-
RHBDL1-
-
-
-
1Loss-
RHBDL2-
-
-
-
3Gain-
RHBDL3-
-
-
-
1Loss-
RHBG-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOA-
-
-
-
3Gain-
RHOBTB3-
-
-
-
3Gain-
RHOD-
-
-
-
1Loss-
RHOT1-
-
-
-
1Loss-
RHOT2-
-
-
-
1Loss-
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
3Gain-
RHPN2-
-
-
-
3Gain-
RIBC2-
-
-
-
3Gain-
RIC1-
-
-
-
1Loss-
RICTORp.S718F
Missense
SNP
0.548
3Gain-
RIIAD1-
-
-
-
3Gain-
RIMKLA-
-
-
-
3Gain-
RIMS3-
-
-
-
3Gain-
RIN1-
-
-
-
1Loss-
RIOK2-
-
-
-
3Gain-
RIPK4-
-
-
-
1Loss-
RIPOR1-
-
-
-
1Loss-
RIPPLY3-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RIT2-
-
-
-
3Gain-
RLF-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMDN3-
-
-
-
3Gain-
RMI2-
-
-
-
1Loss-
RMND1-
-
-
-
1Loss-
RMND5B-
-
-
-
1Loss-
RNASE1p.Q56*
Nonsense
SNP
0.471
2--
RNASEH2C-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RNASET2-
-
-
-
1Loss-
RNF11-
-
-
-
3Gain-
RNF112-
-
-
-
1Loss-
RNF113B-
-
-
-
3Gain-
RNF115-
-
-
-
3Gain-
RNF121-
-
-
-
1Loss-
RNF123-
-
-
-
3Gain-
RNF130-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF135-
-
-
-
1Loss-
RNF146-
-
-
-
0Del-
RNF148-
-
-
-
3Gain-
RNF151-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF169-
-
-
-
1Loss-
RNF175-
-
-
-
1Loss-
RNF180-
-
-
-
3Gain-
RNF185-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF19B-
-
-
-
5Amp-
RNF2-
-
-
-
3Gain-
RNF212-
-
-
-
1Loss-
RNF214-
-
-
-
1Loss-
RNF215-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF217-
-
-
-
0Del-
RNF219-
-
-
-
4Gain-
RNF220-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF223p.E67K
Missense
SNP
0.663
2--
RNF225-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF43p.P118L
Missense
SNP
0.560
2--
RNPEP-
-
-
-
3Gain-
RNPS1-
-
-
-
1Loss-
ROBO1-
-
-
-
3Gain-
ROBO2-
-
-
-
3Gain-
ROBO3p.P1142T
Missense
DNP
0.993
1Loss-
ROBO4p.P997H
Missense
SNP
1.000
1Loss-
ROGDI-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
ROPN1L-
-
-
-
3Gain-
ROR1-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
ROS1-
-
-
-
0Del-
RP11-407P15.2p.G223S
Missense
SNP
0.491
NDND-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
3Gain-
RPF2-
-
-
-
1Loss-
RPGRIP1L-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL13A-
-
-
-
1Loss-
RPL14-
-
-
-
3Gain-
RPL15-
-
-
-
3Gain-
RPL17-
-
-
-
1Loss-
RPL18-
-
-
-
1Loss-
RPL19-
-
-
-
1Loss-
RPL23-
-
-
-
1Loss-
RPL23A-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL29-
-
-
-
3Gain-
RPL3-
-
-
-
3Gain-
RPL32-
-
-
-
3Gain-
RPL34-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL37-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL3L-
-
-
-
1Loss-
RPP14-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPS11-
-
-
-
1Loss-
RPS12-
-
-
-
1Loss-
RPS15A-
-
-
-
1Loss-
RPS19BP1-
-
-
-
3Gain-
RPS2-
-
-
-
1Loss-
RPS23-
-
-
-
3Gain-
RPS25-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS3-
-
-
-
1Loss-
RPS3A-
-
-
-
1Loss-
RPS5-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KA2-
-
-
-
1Loss-
RPS6KA4-
-
-
-
1Loss-
RPS6KB2-
-
-
-
1Loss-
RPS6KC1-
-
-
-
3Gain-
RPS8-
-
-
-
3Gain-
RPSA-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RPUSD1-
-
-
-
1Loss-
RPUSD2-
-
-
-
3Gain-
RPUSD3-
-
-
-
3Gain-
RPUSD4-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAGC-
-
-
-
3Gain-
RRAS-
-
-
-
1Loss-
RRH-
-
-
-
1Loss-
RRN3-
-
-
-
1Loss-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRP7A-
-
-
-
3Gain-
RRP9-
-
-
-
3Gain-
RSC1A1-
-
-
-
1Loss-
RSF1-
-
-
-
1Loss-
RSL1D1-
-
-
-
1Loss-
RSL24D1-
-
-
-
1Loss-
RSPH1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
3Gain-
RSPH3-
-
-
-
1Loss-
RSPH4A-
-
-
-
0Del-
RSPH6A-
-
-
-
1Loss-
RSPO1-
-
-
-
3Gain-
RSPO3-
-
-
-
0Del-
RTCB-
-
-
-
3Gain-
RTF1-
-
-
-
3Gain-
RTL1p.E54K
Missense
SNP
0.569
3Gain-
RTL10-
-
-
-
3Gain-
RTL6-
-
-
-
3Gain-
RTN1p.G602S
Missense
SNP
0.479
2--
RTN3-
-
-
-
1Loss-
RTN4IP1-
-
-
-
0Del-
RTN4R-
-
-
-
3Gain-
RTN4RL2-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
3Gain-
RUFY1-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUNDC1p.SQ355R*
Nonsense
DNP
0.382
2--
RUSC1-
-
-
-
3Gain-
RUVBL2-
-
-
-
1Loss-
RWDD1-
-
-
-
0Del-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP3-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYBP-
-
-
-
3Gain-
RYR1p.X2482_splice
p.M3652V
Splice_Site
Missense
SNP
SNP
0.340
0.376
2--
RYR2p.G493E
p.G2166E
Missense
Missense
SNP
SNP
0.283
0.457
3Gain-
RYR3-
-
-
-
3Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100P-
-
-
-
1Loss-
S100PBP-
-
-
-
5Amp-
S100Z-
-
-
-
3Gain-
SAC3D1-
-
-
-
1Loss-
SACM1L-
-
-
-
3Gain-
SACSp.P4543S
Missense
SNP
1.000
2--
SAE1-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SALL4p.G280E
Missense
SNP
0.445
2--
SAMD12-
-
-
-
1Loss-
SAMD3-
-
-
-
0Del-
SAMD5-
-
-
-
1Loss-
SAMD9Lp.D1311N
Missense
SNP
0.660
2--
SAMM50-
-
-
-
3Gain-
SAMSN1-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SARM1-
-
-
-
1Loss-
SART1-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
3Gain-
SATB2p.D609N
Missense
SNP
0.483
2--
SAXO1-
-
-
-
1Loss-
SBF1-
-
-
-
3Gain-
SBK1-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAF1-
-
-
-
1Loss-
SCAF8-
-
-
-
1Loss-
SCAMP1-
-
-
-
3Gain-
SCAMP3-
-
-
-
3Gain-
SCAP-
-
-
-
3Gain-
SCARB2-
-
-
-
1Loss-
SCARF2-
-
-
-
3Gain-
SCART1-
-
-
-
0Del-
SCCPDH-
-
-
-
3Gain-
SCD5-
-
-
-
1Loss-
SCEL-
-
-
-
4Gain-
SCFD2-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
3Gain-
SCGB1A1-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGB2B2-
-
-
-
3Gain-
SCGB3A1-
-
-
-
1Loss-
SCLT1-
-
-
-
1Loss-
SCMH1-
-
-
-
3Gain-
SCML4-
-
-
-
0Del-
SCN10A-
-
-
-
3Gain-
SCN11A-
-
-
-
3Gain-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCN5A-
-
-
-
3Gain-
SCNM1-
-
-
-
3Gain-
SCNN1B-
-
-
-
1Loss-
SCNN1G-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
3Gain-
SCP2-
-
-
-
3Gain-
SCRG1-
-
-
-
1Loss-
SCUBE1-
-
-
-
3Gain-
SCYL1-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDC3-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2-
-
-
-
1Loss-
SDF2L1-
-
-
-
3Gain-
SDHA-
-
-
-
3Gain-
SDHAF2-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK1p.A378V
p.P962F
Missense
Missense
DNP
DNP
0.331
0.387
3Gain-
SDR16C5p.G16E
Missense
SNP
0.344
2--
SDR42E1-
-
-
-
1Loss-
SDR42E2-
-
-
-
1Loss-
SEBOX-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
3Gain-
SEC14L2-
-
-
-
3Gain-
SEC14L3-
-
-
-
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L5-
-
-
-
1Loss-
SEC14L6-
-
-
-
3Gain-
SEC16Ap.P2224L
Missense
SNP
0.487
2--
SEC22C-
-
-
-
3Gain-
SEC24B-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC63-
-
-
-
0Del-
SECISBP2p.S309F
Missense
SNP
0.460
2--
SECISBP2L-
-
-
-
1Loss-
SEL1Lp.Q73*
Nonsense
SNP
0.516
2--
SEL1L3p.D921N
Missense
SNP
0.995
1Loss-
SELENBP1-
-
-
-
3Gain-
SELENOH-
-
-
-
1Loss-
SELENOK-
-
-
-
3Gain-
SELENOM-
-
-
-
3Gain-
SELENOO-
-
-
-
3Gain-
SELENOP-
-
-
-
3Gain-
SELENOW-
-
-
-
1Loss-
SEMA3B-
-
-
-
3Gain-
SEMA3F-
-
-
-
3Gain-
SEMA3G-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA5A-
-
-
-
3Gain-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
3Gain-
SENP7p.P264L
Missense
SNP
0.672
2--
SEPSECS-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT3-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SERAC1-
-
-
-
1Loss-
SERF1A-
-
-
-
3Gain-
SERF1B-
-
-
-
3Gain-
SERF2-
-
-
-
1Loss-
SERHL2-
-
-
-
3Gain-
SERINC1-
-
-
-
0Del-
SERINC2-
-
-
-
3Gain-
SERINC4-
-
-
-
1Loss-
SERINC5-
-
-
-
3Gain-
SERP2-
-
-
-
3Gain-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPIND1-
-
-
-
3Gain-
SERPINE1p.G39K
Missense
DNP
0.375
NDND-
SERPINF1p.P45L
Missense
SNP
0.631
2--
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERTAD4-
-
-
-
3Gain-
SESN1-
-
-
-
1Loss-
SESN3-
-
-
-
1Loss-
SETD2-
-
-
-
3Gain-
SETD4-
-
-
-
1Loss-
SETD5-
-
-
-
3Gain-
SETD7-
-
-
-
1Loss-
SETD9-
-
-
-
3Gain-
SETDB1-
-
-
-
3Gain-
SETMAR-
-
-
-
3Gain-
SEZ6-
-
-
-
1Loss-
SEZ6L-
-
-
-
3Gain-
SF1-
-
-
-
1Loss-
SF3A1p.P147S
Missense
SNP
0.368
3Gain-
SF3A3-
-
-
-
3Gain-
SF3B1p.P465S
Missense
SNP
0.460
2--
SF3B2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SF3B5-
-
-
-
1Loss-
SFI1-
-
-
-
3Gain-
SFMBT1-
-
-
-
3Gain-
SFPQ-
-
-
-
3Gain-
SFRP2-
-
-
-
1Loss-
SFT2D1-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFXN1-
-
-
-
1Loss-
SGCB-
-
-
-
1Loss-
SGF29-
-
-
-
1Loss-
SGK1-
-
-
-
1Loss-
SGK223p.P1241S
Missense
SNP
0.331
NDND-
SGK494-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGO1-
-
-
-
3Gain-
SGSM1-
-
-
-
3Gain-
SGTB-
-
-
-
3Gain-
SH2B1-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH2D7-
-
-
-
1Loss-
SH3BGR-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3BP5-
-
-
-
3Gain-
SH3BP5L-
-
-
-
3Gain-
SH3D19-
-
-
-
1Loss-
SH3D21-
-
-
-
3Gain-
SH3GL2-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SHANK2-
-
-
-
1Loss-
SHANK3-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC4-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHISA4-
-
-
-
3Gain-
SHISA5-
-
-
-
3Gain-
SHISA6-
-
-
-
1Loss-
SHISA8-
-
-
-
3Gain-
SHISA9-
-
-
-
1Loss-
SHISAL1-
-
-
-
3Gain-
SHISAL2A-
-
-
-
3Gain-
SHISAL2B-
-
-
-
3Gain-
SHLD3-
-
-
-
3Gain-
SHMT1-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHQ1-
-
-
-
3Gain-
SHROOM3-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIAH3-
-
-
-
3Gain-
SIDT2-
-
-
-
1Loss-
SIGLEC10-
-
-
-
1Loss-
SIGLEC12-
-
-
-
1Loss-
SIGLEC14-
-
-
-
1Loss-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIM1-
-
-
-
0Del-
SIM2-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIPA1-
-
-
-
1Loss-
SIPA1L2-
-
-
-
3Gain-
SIPA1L3p.R82K
Missense
SNP
0.290
2--
SIRT2p.A176V
Missense
DNP
0.309
2--
SIVA1-
-
-
-
3Gain-
SIX5-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLA-
-
-
-
1Loss-
SLAIN1-
-
-
-
4Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLBP-
-
-
-
1Loss-
SLC10A2-
-
-
-
3Gain-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A6-
-
-
-
3Gain-
SLC12A7-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A2-
-
-
-
1Loss-
SLC13A4-
-
-
-
3Gain-
SLC13A5p.G349D
Missense
SNP
1.000
1Loss-
SLC15A1-
-
-
-
3Gain-
SLC15A2p.E674K
Missense
SNP
0.714
2--
SLC15A3-
-
-
-
1Loss-
SLC16A10-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A8-
-
-
-
3Gain-
SLC17A7-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC1A3p.R477C
Missense
SNP
0.598
3Gain-
SLC1A5-
-
-
-
1Loss-
SLC1A7-
-
-
-
3Gain-
SLC22A1-
-
-
-
1Loss-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A13-
-
-
-
3Gain-
SLC22A14-
-
-
-
3Gain-
SLC22A16-
-
-
-
1Loss-
SLC22A2-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A3-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A3p.E410K
Missense
SNP
0.442
2--
SLC24A5-
-
-
-
1Loss-
SLC25A1-
-
-
-
3Gain-
SLC25A15-
-
-
-
3Gain-
SLC25A18-
-
-
-
3Gain-
SLC25A20-
-
-
-
3Gain-
SLC25A26-
-
-
-
3Gain-
SLC25A29-
-
-
-
3Gain-
SLC25A30-
-
-
-
3Gain-
SLC25A31-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A38-
-
-
-
3Gain-
SLC25A4-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A45-
-
-
-
1Loss-
SLC25A47-
-
-
-
3Gain-
SLC26A1-
-
-
-
1Loss-
SLC26A6-
-
-
-
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A2-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC27A4p.P438L
Missense
SNP
0.553
2--
SLC27A5-
-
-
-
1Loss-
SLC28A2-
-
-
-
1Loss-
SLC29A2-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A1-
-
-
-
3Gain-
SLC2A11-
-
-
-
3Gain-
SLC2A12-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A9-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
3Gain-
SLC30A6p.L309F
Missense
SNP
0.483
2--
SLC30A8-
-
-
-
1Loss-
SLC34A2-
-
-
-
1Loss-
SLC35B4-
-
-
-
3Gain-
SLC35D3-
-
-
-
1Loss-
SLC35E4-
-
-
-
3Gain-
SLC35F2-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35G3-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A1-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC37A4-
-
-
-
1Loss-
SLC38A3p.G125S
Missense
SNP
0.572
3Gain-
SLC38A8-
-
-
-
1Loss-
SLC38A9-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A13p.S71F
Missense
SNP
0.466
2--
SLC39A8-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC41A1-
-
-
-
3Gain-
SLC43A1-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A4p.X587_splice
Splice_Site
SNP
0.472
2--
SLC44A5p.M490I
Missense
SNP
0.990
2--
SLC45A2-
-
-
-
3Gain-
SLC45A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
1Loss-
SLC46A1-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A10p.L374F
Missense
SNP
0.572
2--
SLC4A11p.S271F
Missense
SNP
0.512
2--
SLC4A4-
-
-
-
1Loss-
SLC4A7-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
3Gain-
SLC5A1-
-
-
-
3Gain-
SLC5A10-
-
-
-
1Loss-
SLC5A11-
-
-
-
1Loss-
SLC5A4-
-
-
-
3Gain-
SLC5A6p.W469*
Nonsense
SNP
0.475
2--
SLC5A9-
-
-
-
3Gain-
SLC6A1-
-
-
-
3Gain-
SLC6A11-
-
-
-
3Gain-
SLC6A16-
-
-
-
1Loss-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A2-
-
-
-
1Loss-
SLC6A20-
-
-
-
3Gain-
SLC6A3-
-
-
-
3Gain-
SLC6A4-
-
-
-
1Loss-
SLC6A6-
-
-
-
3Gain-
SLC6A9p.T639I
Missense
SNP
0.475
3Gain-
SLC7A10-
-
-
-
3Gain-
SLC7A11-
-
-
-
1Loss-
SLC7A4-
-
-
-
3Gain-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC7A9-
-
-
-
3Gain-
SLC8A2-
-
-
-
1Loss-
SLC9A3-
-
-
-
3Gain-
SLC9A3R2-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLC9C2-
-
-
-
3Gain-
SLCO1A2p.E273K
Missense
SNP
0.589
2--
SLCO2B1-
-
-
-
1Loss-
SLCO4C1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
3Gain-
SLF1-
-
-
-
3Gain-
SLFN11-
-
-
-
1Loss-
SLFN12-
-
-
-
1Loss-
SLFN12L-
-
-
-
1Loss-
SLFN13-
-
-
-
1Loss-
SLFN14-
-
-
-
1Loss-
SLFN5-
-
-
-
1Loss-
SLFNL1-
-
-
-
3Gain-
SLIT2-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK1p.A492V
p.P262L
Missense
Missense
SNP
SNP
0.323
0.705
5Amp-
SLITRK5-
-
-
-
5Amp-
SLITRK6-
-
-
-
5Amp-
SLMAP-
-
-
-
3Gain-
SLURP1-
-
-
-
1Loss-
SLURP2-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4-
-
-
-
1Loss-
SMAD1-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAP2-
-
-
-
3Gain-
SMARCA2-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCB1-
-
-
-
3Gain-
SMARCC1-
-
-
-
3Gain-
SMC1B-
-
-
-
3Gain-
SMCHD1-
-
-
-
1Loss-
SMCO1-
-
-
-
3Gain-
SMCO4-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
3Gain-
SMG1-
-
-
-
1Loss-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMIM12-
-
-
-
3Gain-
SMIM15-
-
-
-
3Gain-
SMIM17-
-
-
-
1Loss-
SMIM2-
-
-
-
3Gain-
SMIM20-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM4-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMLR1-
-
-
-
1Loss-
SMN1-
-
-
-
3Gain-
SMN2-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMOC2-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMPDL3A-
-
-
-
0Del-
SMR3Ap.P130S
Missense
SNP
1.000
1Loss-
SMR3B-
-
-
-
1Loss-
SMTN-
-
-
-
3Gain-
SMTNL1-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI3-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAP29-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNIP1-
-
-
-
3Gain-
SNN-
-
-
-
1Loss-
SNORC-
-
-
-
1Loss-
SNRK-
-
-
-
3Gain-
SNRNP25-
-
-
-
1Loss-
SNRNP40-
-
-
-
3Gain-
SNRNP70-
-
-
-
1Loss-
SNRPBp.P224S
Missense
SNP
0.521
2--
SNRPD2-
-
-
-
1Loss-
SNRPD3-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNRPN-
-
-
-
3Gain-
SNTB1-
-
-
-
1Loss-
SNTB2-
-
-
-
1Loss-
SNTN-
-
-
-
3Gain-
SNU13-
-
-
-
3Gain-
SNURF-
-
-
-
3Gain-
SNX15-
-
-
-
1Loss-
SNX18-
-
-
-
3Gain-
SNX19-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX29-
-
-
-
1Loss-
SNX3-
-
-
-
0Del-
SNX32-
-
-
-
1Loss-
SNX8p.R226W
Missense
DNP
0.347
3Gain-
SNX9-
-
-
-
1Loss-
SOAT1-
-
-
-
3Gain-
SOBP-
-
-
-
0Del-
SOCS1-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOCS7-
-
-
-
1Loss-
SOD2-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SOGA3-
-
-
-
0Del-
SORBS2-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SOWAHB-
-
-
-
1Loss-
SOX1-
-
-
-
3Gain-
SOX10-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX17p.G301S
Missense
SNP
0.322
2--
SOX2-
-
-
-
3Gain-
SOX21-
-
-
-
3Gain-
SOX8-
-
-
-
1Loss-
SP100-
-
-
-
1Loss-
SP110p.L611F
Missense
SNP
0.331
1Loss-
SP140p.D838N
Missense
SNP
0.293
1Loss-
SP140Lp.P301S
Missense
SNP
0.161
1Loss-
SP7p.G173S
Missense
SNP
0.518
2--
SPA17-
-
-
-
1Loss-
SPACA3-
-
-
-
1Loss-
SPACA4-
-
-
-
1Loss-
SPACA6-
-
-
-
1Loss-
SPACA7-
-
-
-
3Gain-
SPAG5-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPANXN1p.M43I
Missense
SNP
1.000
NDND-
SPANXN3p.G120E
Missense
SNP
1.000
NDND-
SPARCL1-
-
-
-
1Loss-
SPATA12-
-
-
-
3Gain-
SPATA16p.Q480*
Nonsense
SNP
0.459
2--
SPATA17p.N288K
Missense
SNP
0.191
3Gain-
SPATA18-
-
-
-
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA21p.G154E
Missense
SNP
0.636
2--
SPATA2L-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA31E1p.S678Y
p.R741L
Missense
Missense
SNP
SNP
0.512
0.395
2--
SPATA33-
-
-
-
1Loss-
SPATA4-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA5-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA6-
-
-
-
3Gain-
SPATA6L-
-
-
-
1Loss-
SPATA9-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPCS2-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDL1p.E79D
Missense
SNP
1.000
1Loss-
SPDYC-
-
-
-
1Loss-
SPDYE1p.W28*
Nonsense
SNP
0.711
NDND-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF2-
-
-
-
3Gain-
SPEGp.E1388K
Missense
SNP
0.479
2--
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
3Gain-
SPG11-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHAR-
-
-
-
3Gain-
SPHK2-
-
-
-
1Loss-
SPINDOC-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPINK8-
-
-
-
3Gain-
SPINT1-
-
-
-
3Gain-
SPIRE2-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPOCD1-
-
-
-
3Gain-
SPOCK3-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPRED1-
-
-
-
3Gain-
SPRN-
-
-
-
0Del-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY1-
-
-
-
1Loss-
SPRY2-
-
-
-
4Gain-
SPSB3-
-
-
-
1Loss-
SPTA1-
-
-
-
3Gain-
SPTBN2-
-
-
-
1Loss-
SPTBN5-
-
-
-
3Gain-
SPZ1-
-
-
-
3Gain-
SQOR-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRCIN1-
-
-
-
1Loss-
SRD5A1-
-
-
-
3Gain-
SRD5A3-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
3Gain-
SREK1-
-
-
-
3Gain-
SREK1IP1-
-
-
-
3Gain-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP3-
-
-
-
3Gain-
SRL-
-
-
-
1Loss-
SRP14-
-
-
-
3Gain-
SRP72-
-
-
-
1Loss-
SRP9-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRRD-
-
-
-
3Gain-
SRRM2-
-
-
-
1Loss-
SRSF4-
-
-
-
3Gain-
SRSF8-
-
-
-
1Loss-
SS18L2-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
3Gain-
SSBP3-
-
-
-
3Gain-
SSH2-
-
-
-
1Loss-
SSH3-
-
-
-
1Loss-
SSMEM1p.K177R
Missense
SNP
0.559
3Gain-
SSPO-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SST-
-
-
-
3Gain-
SSTR3-
-
-
-
3Gain-
SSTR5-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
SSUH2-
-
-
-
3Gain-
ST14-
-
-
-
1Loss-
ST18-
-
-
-
1Loss-
ST3GAL1-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST3GAL3-
-
-
-
3Gain-
ST3GAL4-
-
-
-
1Loss-
ST6GAL1-
-
-
-
3Gain-
ST7p.L338F
Missense
DNP
0.576
3Gain-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4p.H315Y
p.R137C
Missense
Missense
SNP
SNP
0.517
0.553
3Gain-
STAB1-
-
-
-
3Gain-
STAC-
-
-
-
3Gain-
STAC2-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STATH-
-
-
-
1Loss-
STBD1-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STIL-
-
-
-
3Gain-
STIM2-
-
-
-
1Loss-
STIMATE-
-
-
-
3Gain-
STIP1-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK24-
-
-
-
3Gain-
STK31p.R728Q
Missense
SNP
0.439
2--
STK32B-
-
-
-
1Loss-
STK40-
-
-
-
3Gain-
STKLD1p.R271K
Missense
SNP
0.549
2--
STMN4p.R201E
Missense
DNP
0.315
2--
STMP1-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STOX2-
-
-
-
1Loss-
STPG2-
-
-
-
1Loss-
STRA8p.E130K
Missense
SNP
0.574
3Gain-
STRC-
-
-
-
1Loss-
STRIP2-
-
-
-
3Gain-
STRN4-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STT3Bp.E642K
Missense
SNP
0.431
3Gain-
STUB1-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX11-
-
-
-
1Loss-
STX18-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX1A-
-
-
-
1Loss-
STX3-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STX6-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
SUB1-
-
-
-
3Gain-
SUCLG2-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUGT1-
-
-
-
1Loss-
SULF1-
-
-
-
1Loss-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT2A1-
-
-
-
1Loss-
SULT2B1-
-
-
-
1Loss-
SULT4A1-
-
-
-
3Gain-
SUMF1-
-
-
-
3Gain-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
3Gain-
SUN5p.P100L
Missense
SNP
0.434
2--
SUPT6H-
-
-
-
1Loss-
SUSD2-
-
-
-
3Gain-
SUSD4-
-
-
-
3Gain-
SUSD5-
-
-
-
3Gain-
SUZ12-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SV2Bp.G157E
Missense
SNP
0.798
2--
SV2C-
-
-
-
3Gain-
SVBP-
-
-
-
3Gain-
SVOPL-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYCE1-
-
-
-
0Del-
SYCE1L-
-
-
-
1Loss-
SYCE3-
-
-
-
3Gain-
SYMPK-
-
-
-
1Loss-
SYN2-
-
-
-
3Gain-
SYN3-
-
-
-
3Gain-
SYNC-
-
-
-
5Amp-
SYNE1-
-
-
-
1Loss-
SYNGR1-
-
-
-
3Gain-
SYNGR3-
-
-
-
1Loss-
SYNGR4-
-
-
-
1Loss-
SYNJ2-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPR-
-
-
-
3Gain-
SYNRG-
-
-
-
1Loss-
SYT1p.R400Q
Missense
SNP
0.466
2--
SYT11-
-
-
-
3Gain-
SYT12-
-
-
-
1Loss-
SYT14-
-
-
-
3Gain-
SYT15-
-
-
-
1Loss-
SYT17-
-
-
-
1Loss-
SYT2-
-
-
-
3Gain-
SYT4p.E130K
Missense
SNP
0.468
3Gain-
SYT7-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
SYTL3-
-
-
-
1Loss-
SYVN1-
-
-
-
1Loss-
SZT2p.W3222*
Nonsense
SNP
0.617
3Gain-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB1-
-
-
-
3Gain-
TAB2-
-
-
-
1Loss-
TACC3-
-
-
-
1Loss-
TACR3-
-
-
-
1Loss-
TACSTD2-
-
-
-
3Gain-
TADA1-
-
-
-
3Gain-
TADA2A-
-
-
-
1Loss-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
3Gain-
TAF15-
-
-
-
1Loss-
TAF1A-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF1Lp.E705K
Missense
SNP
0.473
2--
TAF2-
-
-
-
1Loss-
TAF5L-
-
-
-
3Gain-
TAF6L-
-
-
-
1Loss-
TAF9-
-
-
-
3Gain-
TAGAP-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TAL1-
-
-
-
3Gain-
TALDO1p.P100L
Missense
DNP
0.452
2--
TAMM41-
-
-
-
3Gain-
TANGO2-
-
-
-
3Gain-
TANGO6-
-
-
-
1Loss-
TAOK1-
-
-
-
1Loss-
TAPT1-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARS-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS2R1-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R3-
-
-
-
3Gain-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R38p.D43N
Missense
SNP
0.593
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R42-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R5-
-
-
-
3Gain-
TAS2R50-
-
-
-
1Loss-
TAS2R60-
-
-
-
3Gain-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TAT-
-
-
-
1Loss-
TATDN2-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TBC1D10A-
-
-
-
3Gain-
TBC1D10C-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D15p.M552L
Missense
SNP
0.604
2--
TBC1D19-
-
-
-
1Loss-
TBC1D22A-
-
-
-
3GainTBC1D22A--FMN2
TBC1D24-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D29-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D32-
-
-
-
0Del-
TBC1D4-
-
-
-
4Gain-
TBC1D5-
-
-
-
3Gain-
TBC1D8p.S598F
Missense
DNP
0.436
2--
TBC1D9B-
-
-
-
1Loss-
TBCA-
-
-
-
3Gain-
TBCCD1-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBCEL-
-
-
-
1Loss-
TBCK-
-
-
-
1Loss-
TBL2-
-
-
-
1Loss-
TBL3-
-
-
-
1Loss-
TBP-
-
-
-
1Loss-
TBPL1-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX1-
-
-
-
3Gain-
TBX10-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TBXT-
-
-
-
1Loss-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCAIM-
-
-
-
3Gain-
TCEA1-
-
-
-
1Loss-
TCEAL5p.M44I
Missense
SNP
1.000
NDND-
TCEANC2-
-
-
-
3Gain-
TCEB3Bp.N633I
Missense
SNP
0.583
NDND-
TCF12-
-
-
-
1Loss-
TCF20-
-
-
-
3Gain-
TCF21-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCIRG1-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCN2-
-
-
-
3Gain-
TCP1-
-
-
-
1Loss-
TCP10-
-
-
-
1Loss-
TCP10L2-
-
-
-
1Loss-
TCTA-
-
-
-
3Gain-
TCTE3-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TCTEX1D4-
-
-
-
3Gain-
TCTN3p.S497F
Missense
SNP
0.238
2--
TDGF1-
-
-
-
3Gain-
TDO2-
-
-
-
1Loss-
TDP1p.P260S
Missense
SNP
0.415
2--
TDRD10-
-
-
-
3Gain-
TDRD12-
-
-
-
3Gain-
TDRD3-
-
-
-
3Gain-
TDRD5p.D369N
Missense
SNP
0.397
3Gain-
TDRD9-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TEAD2-
-
-
-
1Loss-
TECPR2-
-
-
-
3Gain-
TECRLp.Q107*
Nonsense
SNP
1.000
1Loss-
TECTA-
-
-
-
1Loss-
TEDC1-
-
-
-
3Gain-
TEDC2-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TEFM-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
3Gain-
TEKT3-
-
-
-
1Loss-
TEKT5-
-
-
-
1Loss-
TELO2-
-
-
-
1Loss-
TENM2p.G58E
Missense
SNP
0.984
1Loss-
TENM3-
-
-
-
1Loss-
TENM4-
-
-
-
1Loss-
TENT2-
-
-
-
3Gain-
TENT4A-
-
-
-
3Gain-
TENT4B-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TERT-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TESK2-
-
-
-
3Gain-
TESMIN-
-
-
-
1Loss-
TET1p.R1875K
Missense
SNP
0.287
2--
TET2-
-
-
-
1Loss-
TEX11p.D285Y
Missense
SNP
1.000
NDND-
TEX12-
-
-
-
1Loss-
TEX13Cp.M421I
Missense
SNP
0.997
NDND-
TEX22-
-
-
-
3Gain-
TEX264-
-
-
-
3Gain-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX33-
-
-
-
3Gain-
TEX35-
-
-
-
3Gain-
TEX38-
-
-
-
3Gain-
TEX44-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TEX9-
-
-
-
1Loss-
TFAP2Bp.H2P
Missense
SNP
0.296
2--
TFAP2E-
-
-
-
3Gain-
TFAP4-
-
-
-
1Loss-
TFB1M-
-
-
-
1Loss-
TFB2M-
-
-
-
3Gain-
TFCP2L1p.Q348*
Nonsense
SNP
0.426
2--
TFDP1-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFF1-
-
-
-
1Loss-
TFF2-
-
-
-
1Loss-
TFF3-
-
-
-
1Loss-
TFIP11-
-
-
-
3Gain-
TFR2p.R469K
Missense
SNP
0.335
2--
TFRC-
-
-
-
3Gain-
TG-
-
-
-
1Loss-
TGDS-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFBR2-
-
-
-
3Gain-
TGIF1-
-
-
-
1Loss-
TGM4-
-
-
-
3Gain-
TGM5p.P688L
Missense
SNP
1.000
1Loss-
TGM7-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP12-
-
-
-
1Loss-
THAP6-
-
-
-
1Loss-
THAP7-
-
-
-
3Gain-
THAP9-
-
-
-
1Loss-
THBS1-
-
-
-
3Gain-
THBS2-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
3Gain-
THEGLp.X165_splice
Splice_Site
SNP
1.000
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
1Loss-
THEMIS-
-
-
-
0Del-
THOC1-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THOC5-
-
-
-
3Gain-
THOC6-
-
-
-
1Loss-
THOC7-
-
-
-
3Gain-
THPO-
-
-
-
3Gain-
THRAP3-
-
-
-
3Gain-
THRB-
-
-
-
3Gain-
THRSP-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THSD7Bp.S614F
Missense
SNP
0.469
2--
THUMPD1-
-
-
-
1Loss-
THUMPD3-
-
-
-
3Gain-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAF1-
-
-
-
1Loss-
TIAM1p.R1452Q
p.H847Y
Missense
Missense
SNP
SNP
0.718
0.246
2--
TIAM2-
-
-
-
1Loss-
TIE1-
-
-
-
3Gain-
TIFA-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIGD7-
-
-
-
1Loss-
TIMM10-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TIMMDC1p.I266F
Missense
SNP
0.681
2--
TIMP3-
-
-
-
3Gain-
TIMP4-
-
-
-
3Gain-
TINAGp.G439R
Missense
SNP
0.563
2--
TINAGL1-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TJP1-
-
-
-
3Gain-
TK2-
-
-
-
1Loss-
TKFC-
-
-
-
1Loss-
TKT-
-
-
-
3Gain-
TKTL2-
-
-
-
1Loss-
TLCD1-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLL1-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR5-
-
-
-
3Gain-
TLR9-
-
-
-
3Gain-
TLX3-
-
-
-
1Loss-
TM2D1-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM6SF2p.A351S
Missense
SNP
0.507
2--
TM7SF2-
-
-
-
1Loss-
TM9SF2-
-
-
-
3Gain-
TMA16-
-
-
-
1Loss-
TMA7-
-
-
-
3Gain-
TMC5-
-
-
-
1Loss-
TMC7-
-
-
-
1Loss-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO2-
-
-
-
3Gain-
TMCO3-
-
-
-
3Gain-
TMCO5A-
-
-
-
3Gain-
TMED3-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM109-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
3Gain-
TMEM114-
-
-
-
1Loss-
TMEM115-
-
-
-
3Gain-
TMEM121-
-
-
-
3Gain-
TMEM121B-
-
-
-
3Gain-
TMEM125-
-
-
-
3Gain-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM132A-
-
-
-
1Loss-
TMEM132Cp.E560K
Missense
SNP
0.603
2--
TMEM132Dp.E556K
Missense
SNP
0.663
2--
TMEM132E-
-
-
-
1Loss-
TMEM134-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM143-
-
-
-
1Loss-
TMEM144-
-
-
-
1Loss-
TMEM150C-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM158-
-
-
-
3Gain-
TMEM159-
-
-
-
1Loss-
TMEM160-
-
-
-
1Loss-
TMEM161B-
-
-
-
3Gain-
TMEM165-
-
-
-
1Loss-
TMEM167A-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM171-
-
-
-
3Gain-
TMEM174-
-
-
-
3Gain-
TMEM175-
-
-
-
1Loss-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
3Gain-
TMEM179B-
-
-
-
1Loss-
TMEM181-
-
-
-
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
3Gain-
TMEM184C-
-
-
-
1Loss-
TMEM186-
-
-
-
1Loss-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM192-
-
-
-
1Loss-
TMEM199-
-
-
-
1Loss-
TMEM200A-
-
-
-
0Del-
TMEM200B-
-
-
-
3Gain-
TMEM200C-
-
-
-
1Loss-
TMEM204-
-
-
-
1Loss-
TMEM206-
-
-
-
3Gain-
TMEM207-
-
-
-
3Gain-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM211-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM216-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM229A-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM234-
-
-
-
3Gain-
TMEM242-
-
-
-
1Loss-
TMEM244-
-
-
-
0Del-
TMEM25-
-
-
-
1Loss-
TMEM255B-
-
-
-
3Gain-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM269-
-
-
-
3Gain-
TMEM270-
-
-
-
1Loss-
TMEM272-
-
-
-
1Loss-
TMEM273-
-
-
-
1Loss-
TMEM35B-
-
-
-
3Gain-
TMEM39B-
-
-
-
3Gain-
TMEM40-
-
-
-
3Gain-
TMEM41A-
-
-
-
3Gain-
TMEM42-
-
-
-
3Gain-
TMEM43-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TMEM45B-
-
-
-
1Loss-
TMEM53-
-
-
-
3Gain-
TMEM54-
-
-
-
5Amp-
TMEM59-
-
-
-
3Gain-
TMEM61-
-
-
-
3Gain-
TMEM62-
-
-
-
1Loss-
TMEM63A-
-
-
-
3Gain-
TMEM69-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM82p.R284H
Missense
SNP
0.454
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
3Gain-
TMEM8A-
-
-
-
1Loss-
TMEM9-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMEM97-
-
-
-
1Loss-
TMEM98-
-
-
-
1Loss-
TMF1-
-
-
-
3Gain-
TMIE-
-
-
-
3Gain-
TMIGD1-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMOD4-
-
-
-
3Gain-
TMPPE-
-
-
-
3Gain-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS15-
-
-
-
3Gain-
TMPRSS2-
-
-
-
1Loss-
TMPRSS3-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS6-
-
-
-
3Gain-
TMTC4-
-
-
-
3Gain-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNCp.G2068R
p.I1654L
Missense
Missense
SNP
SNP
0.575
0.254
2--
TNFAIP1-
-
-
-
1Loss-
TNFAIP2-
-
-
-
3Gain-
TNFAIP3-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
1Loss-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
3Gain-
TNFRSF17-
-
-
-
1Loss-
TNFSF11-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNKS1BP1-
-
-
-
1Loss-
TNNC1-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNP2-
-
-
-
1Loss-
TNPO1-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRp.E455K
Missense
SNP
0.641
2--
TNRC18-
-
-
-
3Gain-
TNRC6A-
-
-
-
1Loss-
TNXBp.I3251L
Missense
SNP
0.534
2--
TOE1-
-
-
-
3Gain-
TOM1-
-
-
-
3Gain-
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
3Gain-
TOMM22-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOP2B-
-
-
-
3Gain-
TOP3A-
-
-
-
1Loss-
TOP3B-
-
-
-
3Gain-
TOPAZ1-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX3-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP53BP1-
-
-
-
1Loss-
TP53BP2p.L339H
Missense
SNP
0.574
3Gain-
TP53I13-
-
-
-
1Loss-
TP63-
-
-
-
3Gain-
TPBGL-
-
-
-
1Loss-
TPCN2-
-
-
-
1Loss-
TPD52L1-
-
-
-
0Del-
TPD52L3-
-
-
-
1Loss-
TPK1-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPP2-
-
-
-
3Gain-
TPPP-
-
-
-
3Gain-
TPPP3-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPRX1p.W334C
Missense
SNP
1.000
1Loss-
TPSAB1-
-
-
-
1Loss-
TPSB2-
-
-
-
1Loss-
TPSD1-
-
-
-
1Loss-
TPSG1-
-
-
-
1Loss-
TPST2-
-
-
-
3Gain-
TPT1-
-
-
-
3Gain-
TPTEP2-CSNK1E-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRABD-
-
-
-
3Gain-
TRABD2B-
-
-
-
3Gain-
TRADD-
-
-
-
1Loss-
TRAF3-
-
-
-
3Gain-
TRAF3IP2-
-
-
-
0Del-
TRAF3IP3-
-
-
-
3Gain-
TRAF4-
-
-
-
1Loss-
TRAF5-
-
-
-
3Gain-
TRAF7-
-
-
-
1Loss-
TRAIP-
-
-
-
3Gain-
TRAK1-
-
-
-
3Gain-
TRAM1-
-
-
-
1Loss-
TRAM1L1-
-
-
-
1Loss-
TRANK1-
-
-
-
3Gain-
TRAP1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC13-
-
-
-
3Gain-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3-
-
-
-
3Gain-
TRAPPC3L-
-
-
-
0Del-
TRAPPC4-
-
-
-
1Loss-
TRAPPC9-
-
-
-
1Loss-
TRAV12-1p.R22Q
Missense
SNP
0.448
NDND-
TRDN-
-
-
-
0Del-
TREH-
-
-
-
1Loss-
TREX1-
-
-
-
3Gain-
TRGC2p.S9F
Missense
SNP
0.522
NDND-
TRHRp.M280T
Missense
SNP
0.655
2--
TRIM11-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM17-
-
-
-
3Gain-
TRIM2-
-
-
-
1Loss-
TRIM23-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM27p.S192F
Missense
DNP
0.529
2--
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM41-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
1Loss-
TRIM49Bp.W343*
Nonsense
SNP
0.543
2--
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM50-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM52-
-
-
-
1Loss-
TRIM58-
-
-
-
3Gain-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM62-
-
-
-
5Amp-
TRIM64B-
-
-
-
1Loss-
TRIM67-
-
-
-
3Gain-
TRIM69-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM71-
-
-
-
3Gain-
TRIM74-
-
-
-
1Loss-
TRIM75P-
-
-
-
1Loss-
TRIM77p.D346N
Missense
SNP
1.000
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
3Gain-
TRIOBP-
-
-
-
3Gain-
TRIP12-
-
-
-
1Loss-
TRIP13-
-
-
-
3Gain-
TRIT1-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT11-
-
-
-
0Del-
TRMT112-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRMT2Ap.A451S
Missense
SNP
0.429
3Gain-
TRMT44-
-
-
-
1Loss-
TRMT61A-
-
-
-
3Gain-
TRMU-
-
-
-
3Gain-
TRNT1-
-
-
-
3Gain-
TROVE2-
-
-
-
3Gain-
TRPC3-
-
-
-
1Loss-
TRPC7p.N70T
Missense
SNP
1.000
2--
TRPM1-
-
-
-
3Gain-
TRPM4-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPS1-
-
-
-
1Loss-
TRPT1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV5-
-
-
-
3Gain-
TRPV6p.R532Q
Missense
SNP
0.540
3Gain-
TSACC-
-
-
-
3Gain-
TSC2-
-
-
-
1Loss-
TSC22D1-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
3Gain-
TSEN34p.P180S
Missense
SNP
0.661
2--
TSGA10IP-
-
-
-
1Loss-
TSGA13-
-
-
-
3Gain-
TSHZ1-
-
-
-
1Loss-
TSHZ2p.E471K
Missense
SNP
0.518
2--
TSHZ3p.A908T
Missense
DNP
0.327
2--
TSKU-
-
-
-
1Loss-
TSNARE1-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN1-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPAN5-
-
-
-
1Loss-
TSPO-
-
-
-
3Gain-
TSPO2p.S146L
Missense
SNP
0.488
2--
TSPYL1-
-
-
-
0Del-
TSPYL4-
-
-
-
0Del-
TSR3-
-
-
-
1Loss-
TSSK2-
-
-
-
3Gain-
TSSK3-
-
-
-
3Gain-
TST-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TSTD3-
-
-
-
0Del-
TTBK2-
-
-
-
1Loss-
TTC12-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
3Gain-
TTC22-
-
-
-
3Gain-
TTC23L-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTC28-
-
-
-
3Gain-
TTC29-
-
-
-
1Loss-
TTC3-
-
-
-
1Loss-
TTC33-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
3Gain-
TTC38-
-
-
-
3Gain-
TTC39A-
-
-
-
3Gain-
TTC39B-
-
-
-
1Loss-
TTC4-
-
-
-
3Gain-
TTC9C-
-
-
-
1Loss-
TTLL1-
-
-
-
3Gain-
TTLL12-
-
-
-
3Gain-
TTLL2-
-
-
-
1Loss-
TTLL3-
-
-
-
3Gain-
TTLL4p.P127S
Missense
SNP
0.507
2--
TTLL8-
-
-
-
3Gain-
TTNp.S28038L
p.E26356K
p.E24050K
p.R22855K
p.D21548N
p.X7414_splice
p.P7367S
p.R6703Q
p.D6395N
Missense
Missense
Missense
Missense
Missense
Splice_Site
Missense
Missense
Missense
SNP
SNP
SNP
DNP
SNP
SNP
SNP
SNP
SNP
0.409
0.492
0.458
0.412
0.520
0.471
0.485
0.508
0.439
2--
TTYH3-
-
-
-
3Gain-
TUBA3Dp.D39N
Missense
SNP
0.544
2--
TUBA8-
-
-
-
3Gain-
TUBB3-
-
-
-
1Loss-
TUBE1-
-
-
-
0Del-
TUBGCP2-
-
-
-
0Del-
TUBGCP3-
-
-
-
3Gain-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
3Gain-
TUBGCP6-
-
-
-
3Gain-
TUFM-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP2-
-
-
-
1Loss-
TULP4-
-
-
-
1Loss-
TUSC2-
-
-
-
3Gain-
TUT1-
-
-
-
1Loss-
TUT4-
-
-
-
3Gain-
TVP23A-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
3Gain-
TXLNA-
-
-
-
3Gain-
TXLNB-
-
-
-
1Loss-
TXN2-
-
-
-
3Gain-
TXNDC11-
-
-
-
1Loss-
TXNDC12-
-
-
-
3Gain-
TXNDC17-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TXNRD2-
-
-
-
3Gain-
TYMP-
-
-
-
3Gain-
TYMS-
-
-
-
1Loss-
TYR-
-
-
-
1Loss-
TYRO3-
-
-
-
3Gain-
TYRP1-
-
-
-
1Loss-
TYW1B-
-
-
-
1Loss-
U2SURPp.P308L
p.G321S
Missense
Missense
SNP
SNP
0.320
0.684
2--
UAP1-
-
-
-
3Gain-
UBA2-
-
-
-
3Gain-
UBA3-
-
-
-
3Gain-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
3Gain-
UBAC2-
-
-
-
3Gain-
UBALD1-
-
-
-
1Loss-
UBAP2p.R650*
Nonsense
SNP
0.511
2--
UBAP2L-
-
-
-
3Gain-
UBASH3A-
-
-
-
1Loss-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2E1-
-
-
-
3Gain-
UBE2E2-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2I-
-
-
-
1Loss-
UBE2L3-
-
-
-
3Gain-
UBE2L6-
-
-
-
1Loss-
UBE2M-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2QL1-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBE2U-
-
-
-
3Gain-
UBE3A-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBFD1-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBP1-
-
-
-
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR1-
-
-
-
1Loss-
UBR4p.D4650N
Missense
SNP
0.320
2--
UBTD2-
-
-
-
1Loss-
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UCHL3-
-
-
-
4Gain-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCN2-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UFD1-
-
-
-
3Gain-
UFL1-
-
-
-
0Del-
UFSP2-
-
-
-
1Loss-
UGGT1p.A841V
Missense
SNP
0.515
2--
UGGT2-
-
-
-
3Gain-
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-
UHMK1-
-
-
-
3Gain-
UHRF2-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK2p.S506F
Missense
SNP
0.333
1Loss-
ULK4-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UMOD-
-
-
-
1Loss-
UMODL1-
-
-
-
1Loss-
UNC119-
-
-
-
1Loss-
UNC13C-
-
-
-
1Loss-
UNC45B-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC80p.E3186K
Missense
SNP
0.460
2--
UNC93A-
-
-
-
1Loss-
UNC93B1-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UNKL-
-
-
-
1Loss-
UPB1-
-
-
-
3Gain-
UPF2p.R668C
Missense
SNP
0.529
2--
UPF3A-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UPK3A-
-
-
-
3Gain-
UQCC3-
-
-
-
1Loss-
UQCR10-
-
-
-
3Gain-
UQCRC1-
-
-
-
3Gain-
UQCRC2-
-
-
-
1Loss-
UQCRH-
-
-
-
3Gain-
UQCRHL-
-
-
-
1Loss-
URB2-
-
-
-
3Gain-
UROD-
-
-
-
3Gain-
USF1-
-
-
-
3Gain-
USH1Cp.E735K
Missense
SNP
0.650
2--
USH2Ap.E2613V
Missense
SNP
0.637
3Gain-
USO1-
-
-
-
1Loss-
USP1-
-
-
-
3Gain-
USP10-
-
-
-
1Loss-
USP14-
-
-
-
1Loss-
USP17L1-
-
-
-
1Loss-
USP17L13-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP18p.E108*
Nonsense
SNP
0.387
3Gain-
USP19-
-
-
-
3Gain-
USP2-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP24-
-
-
-
3Gain-
USP25-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP29-
-
-
-
1Loss-
USP31-
-
-
-
1Loss-
USP35-
-
-
-
1Loss-
USP4-
-
-
-
3Gain-
USP40-
-
-
-
1Loss-
USP41-
-
-
-
3Gain-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP45-
-
-
-
0Del-
USP46-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP53-
-
-
-
1Loss-
USP6p.P1259F
Missense
DNP
0.448
2--
USP7-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTP11-
-
-
-
3Gain-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
3Gain-
UTP23-
-
-
-
1Loss-
UTP25-
-
-
-
3Gain-
UTP3-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
UTP6-
-
-
-
1Loss-
UTRN-
-
-
-
1Loss-
UTS2B-
-
-
-
3Gain-
UVRAG-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VASN-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VCAN-
-
-
-
3Gain-
VEGFB-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VGLL2-
-
-
-
0Del-
VGLL3-
-
-
-
3Gain-
VGLL4-
-
-
-
3Gain-
VHL-
-
-
-
3Gain-
VHLL-
-
-
-
3Gain-
VILL-
-
-
-
3Gain-
VIP-
-
-
-
1Loss-
VIPR1p.E398K
Missense
SNP
0.604
3Gain-
VLDLR-
-
-
-
1Loss-
VN1R1-
-
-
-
1Loss-
VN1R2-
-
-
-
1Loss-
VN1R4-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS11-
-
-
-
1Loss-
VPS13Dp.H1369Y
p.K3366I
Missense
Missense
SNP
SNP
0.286
0.709
2--
VPS18-
-
-
-
3Gain-
VPS26B-
-
-
-
1Loss-
VPS26C-
-
-
-
1Loss-
VPS33Bp.L301M
Missense
DNP
0.598
2--
VPS35-
-
-
-
1Loss-
VPS35L-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS37C-
-
-
-
1Loss-
VPS37D-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS51-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VSIG10L-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSTM1p.S30F
Missense
SNP
0.324
2--
VSTM4-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VTN-
-
-
-
1Loss-
VWA3A-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B2-
-
-
-
3Gain-
VWA8-
-
-
-
3Gain-
VWA9p.X272_splice
Splice_Site
SNP
0.240
NDND-
VWCE-
-
-
-
1Loss-
VWDEp.L206F
Missense
SNP
0.422
2--
WARS-
-
-
-
3Gain-
WASF1-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WBP2NL-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDFY4p.P1066L
Missense
SNP
0.425
1Loss-
WDR1-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR20-
-
-
-
3Gain-
WDR24-
-
-
-
1Loss-
WDR25-
-
-
-
3Gain-
WDR26p.Q569*
Nonsense
DNP
0.613
3Gain-
WDR27-
-
-
-
1Loss-
WDR41-
-
-
-
3Gain-
WDR48-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR59-
-
-
-
1Loss-
WDR6-
-
-
-
3Gain-
WDR61-
-
-
-
1Loss-
WDR64-
-
-
-
3Gain-
WDR66p.X831_splice
Splice_Site
DNP
0.519
2--
WDR7-
-
-
-
1Loss-
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
1Loss-
WDR74-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR82-
-
-
-
3Gain-
WDR88-
-
-
-
3Gain-
WDR90-
-
-
-
1Loss-
WDR91-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WFDC1-
-
-
-
1Loss-
WFIKKN1-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
1Loss-
WISP3-
-
-
-
0Del-
WNT11-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2p.G288S
Missense
DNP
0.395
3Gain-
WNT3A-
-
-
-
3Gain-
WNT5A-
-
-
-
3Gain-
WNT7A-
-
-
-
3Gain-
WNT7B-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
WRAP53-
-
-
-
1Loss-
WRB-
-
-
-
1Loss-
WRB-SH3BGR-
-
-
-
1Loss-
WRNIP1p.X339_splice
Splice_Site
SNP
0.434
2--
WSB1-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WTAP-
-
-
-
1Loss-
WTIP-
-
-
-
3Gain-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XAGE3p.T8I
Missense
SNP
1.000
NDND-
XBP1-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
3Gain-
XIRP1-
-
-
-
3Gain-
XIRP2p.E2400K
Missense
SNP
0.442
2--
XKR3-
-
-
-
3Gain-
XKR5-
-
-
-
1Loss-
XKR9-
-
-
-
1Loss-
XPC-
-
-
-
3Gain-
XPO6-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC3-
-
-
-
3Gain-
XRCC4-
-
-
-
3Gain-
XRN1p.G1128E
Missense
SNP
0.250
2--
XRRA1-
-
-
-
1Loss-
XXYLT1-
-
-
-
3Gain-
XYLB-
-
-
-
3Gain-
XYLT1-
-
-
-
1Loss-
YARS-
-
-
-
5Amp-
YBX1-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YDJC-
-
-
-
3Gain-
YEATS2-
-
-
-
3Gain-
YES1-
-
-
-
1Loss-
YIF1A-
-
-
-
1Loss-
YIPF1-
-
-
-
3Gain-
YLPM1p.S242F
Missense
SNP
0.468
2--
YOD1-
-
-
-
3Gain-
YPEL1-
-
-
-
3Gain-
YPEL4-
-
-
-
1Loss-
YRDC-
-
-
-
3Gain-
YTHDC1-
-
-
-
1Loss-
YWHAH-
-
-
-
3Gain-
YY1-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
Z82190.2-
-
-
-
3Gain-
Z84488.2-
-
-
-
0Del-
Z84492.1-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZANp.L2372F
Missense
DNP
0.350
2--
ZBED3-
-
-
-
3Gain-
ZBED4-
-
-
-
3Gain-
ZBED6-
-
-
-
3Gain-
ZBTB14-
-
-
-
1Loss-
ZBTB16-
-
-
-
1Loss-
ZBTB17-
-
-
-
1Loss-
ZBTB18-
-
-
-
3Gain-
ZBTB2-
-
-
-
1Loss-
ZBTB21-
-
-
-
1Loss-
ZBTB24-
-
-
-
1Loss-
ZBTB3-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
3Gain-
ZBTB44-
-
-
-
1Loss-
ZBTB45-
-
-
-
1Loss-
ZBTB47-
-
-
-
3Gain-
ZBTB49-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB8A-
-
-
-
5Amp-
ZBTB8B-
-
-
-
5Amp-
ZBTB8OS-
-
-
-
5Amp-
ZC2HC1B-
-
-
-
1Loss-
ZC3H11A-
-
-
-
3Gain-
ZC3H12A-
-
-
-
3Gain-
ZC3H12C-
-
-
-
1Loss-
ZC3H12D-
-
-
-
1Loss-
ZC3H13-
-
-
-
3Gain-
ZC3H18-
-
-
-
1Loss-
ZC3H4-
-
-
-
1Loss-
ZC3H7A-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC14-
-
-
-
1Loss-
ZCCHC17-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC4-
-
-
-
1Loss-
ZCCHC9-
-
-
-
3Gain-
ZCWPW2-
-
-
-
3Gain-
ZDHHC1-
-
-
-
1Loss-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC14-
-
-
-
1Loss-
ZDHHC19-
-
-
-
3Gain-
ZDHHC21-
-
-
-
1Loss-
ZDHHC24-
-
-
-
1Loss-
ZDHHC3-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZDHHC5-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAND4-
-
-
-
1Loss-
ZFAT-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP28-
-
-
-
1Loss-
ZFP42-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFP69-
-
-
-
3Gain-
ZFP69B-
-
-
-
3Gain-
ZFP90-
-
-
-
1Loss-
ZFP91-
-
-
-
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFR-
-
-
-
3Gain-
ZFYVE1p.K346R
Missense
SNP
0.519
2--
ZFYVE16-
-
-
-
3Gain-
ZFYVE19-
-
-
-
3Gain-
ZFYVE21-
-
-
-
3Gain-
ZFYVE28-
-
-
-
1Loss-
ZFYVE9-
-
-
-
3Gain-
ZG16B-
-
-
-
1Loss-
ZGRF1-
-
-
-
1Loss-
ZIC2-
-
-
-
3Gain-
ZIC5-
-
-
-
3Gain-
ZIK1-
-
-
-
1Loss-
ZIM2-
-
-
-
1Loss-
ZIM3-
-
-
-
1Loss-
ZKSCAN2-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
3Gain-
ZMAT5-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
3Gain-
ZMYM1-
-
-
-
3Gain-
ZMYM2p.P1188L
Missense
SNP
0.986
2--
ZMYM4-
-
-
-
3Gain-
ZMYM6-
-
-
-
3Gain-
ZMYND10-
-
-
-
3Gain-
ZMYND12-
-
-
-
3Gain-
ZNF106-
-
-
-
1Loss-
ZNF114-
-
-
-
1Loss-
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF131-
-
-
-
3Gain-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF136p.H55Y
p.L71F
Missense
Missense
SNP
SNP
0.333
0.508
2--
ZNF141-
-
-
-
1Loss-
ZNF154-
-
-
-
1Loss-
ZNF160-
-
-
-
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF174-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF181-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF197-
-
-
-
3Gain-
ZNF200-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF205-
-
-
-
1Loss-
ZNF207-
-
-
-
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF213-
-
-
-
1Loss-
ZNF214p.H352Y
Missense
SNP
0.578
2--
ZNF22-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF250p.D34N
Missense
SNP
0.403
2--
ZNF256-
-
-
-
1Loss-
ZNF263-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF274-
-
-
-
1Loss-
ZNF276-
-
-
-
1Loss-
ZNF28-
-
-
-
1Loss-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF280D-
-
-
-
1Loss-
ZNF281-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF302-
-
-
-
3Gain-
ZNF304-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF32-
-
-
-
1Loss-
ZNF320-
-
-
-
1Loss-
ZNF324-
-
-
-
1Loss-
ZNF324B-
-
-
-
1Loss-
ZNF329p.P111S
Missense
SNP
0.331
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF347-
-
-
-
1Loss-
ZNF35-
-
-
-
3Gain-
ZNF350-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354Bp.P577Y
Missense
DNP
1.000
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF362-
-
-
-
5Amp-
ZNF366-
-
-
-
3Gain-
ZNF37A-
-
-
-
1Loss-
ZNF385Bp.P208S
Missense
SNP
0.478
2--
ZNF385Dp.F36L
Missense
SNP
0.620
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF407-
-
-
-
1Loss-
ZNF408p.G39D
Missense
SNP
0.488
2--
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF423-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF432-
-
-
-
1Loss-
ZNF442p.H566Y
Missense
SNP
0.520
2--
ZNF445-
-
-
-
3Gain-
ZNF446-
-
-
-
1Loss-
ZNF454-
-
-
-
1Loss-
ZNF460-
-
-
-
1Loss-
ZNF462p.S974F
Missense
DNP
0.514
2--
ZNF467-
-
-
-
3Gain-
ZNF468-
-
-
-
1Loss-
ZNF469-
-
-
-
1Loss-
ZNF470-
-
-
-
1Loss-
ZNF471-
-
-
-
1Loss-
ZNF480-
-
-
-
1Loss-
ZNF483p.E89V
Missense
DNP
0.485
2--
ZNF485-
-
-
-
1Loss-
ZNF486p.H456Y
Missense
SNP
0.466
2--
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF496p.L198F
Missense
SNP
0.608
3Gain-
ZNF497-
-
-
-
1Loss-
ZNF500-
-
-
-
1Loss-
ZNF501-
-
-
-
3Gain-
ZNF502-
-
-
-
3Gain-
ZNF511-
-
-
-
0Del-
ZNF511-PRAP1-
-
-
-
0Del-
ZNF516-
-
-
-
1Loss-
ZNF518B-
-
-
-
1Loss-
ZNF525-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF534-
-
-
-
1Loss-
ZNF541-
-
-
-
1Loss-
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF560p.R396Q
Missense
SNP
0.567
2--
ZNF577-
-
-
-
1Loss-
ZNF578-
-
-
-
1Loss-
ZNF582-
-
-
-
1Loss-
ZNF583-
-
-
-
1Loss-
ZNF584-
-
-
-
1Loss-
ZNF585Ap.S731F
Missense
SNP
0.352
2--
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF589-
-
-
-
3Gain-
ZNF592p.D702N
Missense
SNP
0.330
2--
ZNF593p.R81*
Nonsense
DNP
0.601
2--
ZNF595-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF597-
-
-
-
1Loss-
ZNF598-
-
-
-
1Loss-
ZNF600-
-
-
-
1Loss-
ZNF606-
-
-
-
1Loss-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614-
-
-
-
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF619-
-
-
-
3Gain-
ZNF620-
-
-
-
3Gain-
ZNF621-
-
-
-
3Gain-
ZNF622-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF649-
-
-
-
1Loss-
ZNF654-
-
-
-
3Gain-
ZNF660-
-
-
-
3Gain-
ZNF662-
-
-
-
3Gain-
ZNF665-
-
-
-
1Loss-
ZNF667p.H194Y
Missense
SNP
0.312
1Loss-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF671-
-
-
-
1Loss-
ZNF672-
-
-
-
3Gain-
ZNF677-
-
-
-
1Loss-
ZNF678-
-
-
-
3Gain-
ZNF684-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF691-
-
-
-
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF70-
-
-
-
3Gain-
ZNF701-
-
-
-
1Loss-
ZNF71-
-
-
-
1Loss-
ZNF717-
-
-
-
3Gain-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF74-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF749-
-
-
-
1Loss-
ZNF75A-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766p.P382F
Missense
DNP
0.682
1Loss-
ZNF770p.S445L
p.S434L
Missense
Missense
SNP
SNP
0.556
0.543
3Gain-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF776-
-
-
-
1Loss-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF780Bp.H709Y
Missense
SNP
0.296
2--
ZNF783p.R359C
Missense
DNP
0.403
3Gain-
ZNF786p.P307S
Missense
SNP
0.413
3Gain-
ZNF8-
-
-
-
1Loss-
ZNF800-
-
-
-
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF821-
-
-
-
1Loss-
ZNF827-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF830-
-
-
-
1Loss-
ZNF831p.T342I
Missense
DNP
0.421
2--
ZNF835-
-
-
-
1Loss-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF839-
-
-
-
3Gain-
ZNF841-
-
-
-
1Loss-
ZNF845-
-
-
-
1Loss-
ZNF852-
-
-
-
3Gain-
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
3Gain-
ZNF879-
-
-
-
1Loss-
ZNF880-
-
-
-
1Loss-
ZNF888-
-
-
-
1Loss-
ZNHIT2-
-
-
-
1Loss-
ZNHIT3-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-
ZNRF3-
-
-
-
3Gain-
ZP1-
-
-
-
1Loss-
ZP2-
-
-
-
1Loss-
ZP4-
-
-
-
3Gain-
ZPLD1p.G393R
Missense
SNP
0.305
2--
ZPR1-
-
-
-
1Loss-
ZSCAN1-
-
-
-
1Loss-
ZSCAN10-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN20-
-
-
-
5Amp-
ZSCAN22-
-
-
-
1Loss-
ZSCAN29-
-
-
-
1Loss-
ZSCAN32-
-
-
-
1Loss-
ZSCAN4-
-
-
-
1Loss-
ZSCAN5A-
-
-
-
1Loss-
ZSCAN5C-
-
-
-
1Loss-
ZSWIM2p.R603Q
Missense
SNP
0.453
2--
ZSWIM5-
-
-
-
3Gain-
ZSWIM6-
-
-
-
3Gain-
ZSWIM7-
-
-
-
1Loss-
ZSWIM9-
-
-
-
1Loss-
ZUP1-
-
-
-
0Del-
ZW10-
-
-
-
1Loss-
ZYG11A-
-
-
-
3Gain-
ZYG11B-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-