WU-L022-T1-X1P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
9Amp-
AANAT-
-
-
-
5Amp-
AASDH-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
AATK-
-
-
-
3Gain-
ABCA10-
-
-
-
3Gain-
ABCA13p.C4890F
Missense
SNP
0.472
2--
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB11-
-
-
-
1Loss-
ABCC3-
-
-
-
8Amp-
ABCG1-
-
-
-
3Gain-
ABCG4-
-
-
-
1Loss-
ABHD12-
-
-
-
1Loss-
ABHD13-
-
-
-
3Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD16B-
-
-
-
8Amp-
ABHD3-
-
-
-
3Gain-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
3Gain-
ABI3-
-
-
-
9Amp-
ABR-
-
-
-
1Loss-
AC002985.1-
-
-
-
3Gain-
AC003002.1-
-
-
-
3Gain-
AC003002.2-
-
-
-
3Gain-
AC003002.3-
-
-
-
3Gain-
AC003005.1-
-
-
-
12Amp-
AC003006.1-
-
-
-
12Amp-
AC003688.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
12Amp-
AC004805.1-
-
-
-
5Amp-
AC005702.1-
-
-
-
3Gain-
AC005837.2-
-
-
-
10AmpCCDC40--AC005837.2
AC006254.1-
-
-
-
1Loss-
AC007192.1-
-
-
-
3Gain-
AC007423.1-
-
-
-
NDNDHELZ--AC007423.1
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
3Gain-
AC008397.2-
-
-
-
3Gain-
AC008750.8-
-
-
-
6Amp-
AC008758.1-
-
-
-
5Amp-
AC008758.4-
-
-
-
5Amp-
AC008758.5-
-
-
-
5Amp-
AC008758.6-
-
-
-
5Amp-
AC008764.1-
-
-
-
3Gain-
AC008764.4-
-
-
-
3Gain-
AC008770.1-
-
-
-
5Amp-
AC008770.2-
-
-
-
5Amp-
AC009336.2-
-
-
-
1Loss-
AC009477.2-
-
-
-
1Loss-
AC010319.2-
-
-
-
3Gain-
AC010326.2-
-
-
-
12Amp-
AC010327.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
5Amp-
AC010422.5-
-
-
-
5Amp-
AC010422.6-
-
-
-
5Amp-
AC010422.8-
-
-
-
5Amp-
AC010463.1-
-
-
-
3Gain-
AC010487.3-
-
-
-
9Amp-
AC010522.1-
-
-
-
12Amp-
AC010615.4-
-
-
-
3Gain-
AC010619.1-
-
-
-
10Amp-
AC010646.1-
-
-
-
3Gain-
AC011005.1-
-
-
-
3Gain-
AC011448.1-
-
-
-
3Gain-
AC011452.1-
-
-
-
12Amp-
AC011473.4-
-
-
-
6Amp-
AC012254.2-
-
-
-
3Gain-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
6Amp-
AC020909.1-
-
-
-
6Amp-
AC020915.1-
-
-
-
9Amp-
AC020915.5-
-
-
-
9Amp-
AC020922.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC046185.1-
-
-
-
6Amp-
AC068547.1-
-
-
-
1Loss-
AC073111.3-
-
-
-
3Gain-
AC087289.3-
-
-
-
6Amp-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC091057.6-
-
-
-
1Loss-
AC091551.1-
-
-
-
3Gain-
AC092073.1-
-
-
-
3Gain-
AC092329.3-
-
-
-
3Gain-
AC093899.2-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC099850.2-
-
-
-
6Amp-
AC104581.2-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC113554.1-
-
-
-
6Amp-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC126544.2-
-
-
-
NDNDITGB4--AC126544.2
AC127029.3-
-
-
-
6Amp-
AC135068.1-
-
-
-
1Loss-
AC139530.2-
-
-
-
5Amp-
AC144573.1-
-
-
-
4Gain-
ACAA2-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAT1-
-
-
-
1Loss-
ACE-
-
-
-
6Amp-
ACLY-
-
-
-
7Amp-
ACMSD-
-
-
-
1Loss-
ACOX1-
-
-
-
5Amp-
ACOX2-
-
-
-
1Loss-
ACP4-
-
-
-
6Amp-
ACRV1-
-
-
-
1Loss-
ACSF2-
-
-
-
8Amp-
ACSL1-
-
-
-
1Loss-
ACSS1-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTG1-
-
-
-
5Amp-
ACTR3C-
-
-
-
3Gain-
ACTR8-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ACVR1-
-
-
-
1Loss-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
AD000671.1-
-
-
-
3Gain-
AD000671.2-
-
-
-
3Gain-
ADAM18-
-
-
-
3Gain-
ADAM2-
-
-
-
3Gain-
ADAM28-
-
-
-
1Loss-
ADAM29-
-
-
-
3Gain-
ADAM32-
-
-
-
3Gain-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS1-
-
-
-
3Gain-
ADAMTS14p.K522R
Missense
SNP
0.519
2--
ADAMTS15-
-
-
-
1Loss-
ADAMTS5-
-
-
-
3Gain-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADARB1-
-
-
-
3Gain-
ADCK2-
-
-
-
3Gain-
ADCYAP1-
-
-
-
3Gain-
ADGRA2-
-
-
-
4Gain-
ADGRE2-
-
-
-
4Gain-
ADGRE3-
-
-
-
4Gain-
ADGRE5-
-
-
-
4Gain-
ADGRL1-
-
-
-
4Gain-
ADM5-
-
-
-
10Amp-
ADNP2-
-
-
-
3Gain-
ADPRHL1-
-
-
-
4Gain-
ADRA1A-
-
-
-
1Loss-
ADRB3-
-
-
-
4Gain-
ADRM1-
-
-
-
6Amp-
AFG3L2-
-
-
-
3Gain-
AFMID-
-
-
-
14Amp-
AGA-
-
-
-
1Loss-
AGBL3-
-
-
-
4Gain-
AGPAT3-
-
-
-
3Gain-
AGPAT5-
-
-
-
1Loss-
AGPS-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHNAKp.S2670A
Missense
SNP
1.000
1Loss-
AIPL1-
-
-
-
1Loss-
AIRE-
-
-
-
3Gain-
AJAP1-
-
-
-
1Loss-
AKAIN1-
-
-
-
3Gain-
AKAP1-
-
-
-
8Amp-
AKAP11-
-
-
-
1Loss-
AKAP8-
-
-
-
5Amp-
AKAP8L-
-
-
-
5Amp-
AKR1B1-
-
-
-
4Gain-
AKR1B10-
-
-
-
4Gain-
AKR1B15-
-
-
-
4Gain-
AKR1D1-
-
-
-
3Gain-
AKT1S1-
-
-
-
10Amp-
AKT2-
-
-
-
3Gain-
AL031847.2-
-
-
-
1Loss-
AL121722.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
8Amp-
AL121845.3-
-
-
-
8Amp-
AL512506.3-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALDH16A1-
-
-
-
10Amp-
ALG11-
-
-
-
1Loss-
ALG5-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKBH6-
-
-
-
3Gain-
ALKBH8-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX15-
-
-
-
9Amp-
ALPK2-
-
-
-
3Gain-
ALYREF-
-
-
-
5Amp-
AMER3-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMMECR1L-
-
-
-
1Loss-
AMOTL1-
-
-
-
1Loss-
AMZ2-
-
-
-
3Gain-
ANAPC11-
-
-
-
5Amp-
ANGPT2-
-
-
-
1Loss-
ANGPTL5-
-
-
-
1Loss-
ANKFN1-
-
-
-
5Amp-
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
3Gain-
ANKHD1-EIF4EBP3-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKLE1-
-
-
-
3Gain-
ANKRD10-
-
-
-
4Gain-
ANKRD12-
-
-
-
3Gain-
ANKRD18Ap.L375R
Missense
SNP
0.432
2--
ANKRD27-
-
-
-
3Gain-
ANKRD29-
-
-
-
3Gain-
ANKRD30B-
-
-
-
3Gain-
ANKRD30BL-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD40-
-
-
-
8Amp-
ANKRD42-
-
-
-
1Loss-
ANKRD49-
-
-
-
1Loss-
ANKRD60-
-
-
-
1Loss-
ANKRD62-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANO8-
-
-
-
3Gain-
AP000275.2-
-
-
-
3Gain-
AP000295.1-
-
-
-
3Gain-
AP000311.1-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP1M1-
-
-
-
3Gain-
AP2A1-
-
-
-
10Amp-
AP5B1-
-
-
-
1Loss-
APBA2-
-
-
-
1Loss-
APCDD1-
-
-
-
3Gain-
APCDD1L-
-
-
-
1Loss-
APEH-
-
-
-
1Loss-
APLP1-
-
-
-
3Gain-
APLP2-
-
-
-
1Loss-
APMAP-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOH-
-
-
-
5Amp-
APP-
-
-
-
3Gain-
APPBP2-
-
-
-
6Amp-
APPL1-
-
-
-
1Loss-
AQP4-
-
-
-
3Gain-
AQR-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARF5-
-
-
-
3Gain-
ARFGAP1-
-
-
-
6Amp-
ARFRP1-
-
-
-
8Amp-
ARGLU1-
-
-
-
3Gain-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP15-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP28-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP33-
-
-
-
3Gain-
ARHGAP42-
-
-
-
1Loss-
ARHGDIA-
-
-
-
5Amp-
ARHGEF10-
-
-
-
1Loss-
ARHGEF12-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF4-
-
-
-
1Loss-
ARHGEF7-
-
-
-
4Gain-
ARID1Ap.P146Qfs*86
Frame_Shift_Del
DEL
0.441
2--
ARL11-
-
-
-
1Loss-
ARL16-
-
-
-
5Amp-
ARL17A-
-
-
-
4Gain-
ARL17B-
-
-
-
4Gain-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL5A-
-
-
-
1Loss-
ARL6IP5-
-
-
-
1Loss-
ARL6IP6-
-
-
-
1Loss-
ARL9-
-
-
-
1Loss-
ARMC6-
-
-
-
3Gain-
ARMC7-
-
-
-
8Amp-
ARRB2-
-
-
-
9Amp-
ARRDC2-
-
-
-
3Gain-
ARSG-
-
-
-
3Gain-
ASAH1-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASF1B-
-
-
-
4Gain-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2L-
-
-
-
4Gain-
ASNA1-
-
-
-
5Amp-
ASPA-
-
-
-
1Loss-
ASPDH-
-
-
-
6Amp-
ASPSCR1-
-
-
-
5Amp-
ASRGL1-
-
-
-
1Loss-
ASXL3-
-
-
-
3Gain-
ASZ1-
-
-
-
3Gain-
ATF2-
-
-
-
1Loss-
ATF5-
-
-
-
10Amp-
ATG2A-
-
-
-
1Loss-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP11A-
-
-
-
3Gain-
ATP13A1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP4A-
-
-
-
3Gain-
ATP4B-
-
-
-
3Gain-
ATP5F1A-
-
-
-
3Gain-
ATP5F1E-
-
-
-
1Loss-
ATP5MC1-
-
-
-
7Amp-
ATP5MC3-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5PD-
-
-
-
8Amp-
ATP5PF-
-
-
-
3Gain-
ATP5PO-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
5Amp-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8B1-
-
-
-
3Gain-
ATP9B-
-
-
-
3Gain-
ATXN7-
-
-
-
1Loss-
AURKA-
-
-
-
1Loss-
AURKC-
-
-
-
3Gain-
AVEN-
-
-
-
1Loss-
AXIN2-
-
-
-
5Amp-
B3GALT1-
-
-
-
1Loss-
B3GALT5-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT3-
-
-
-
1Loss-
B3GNT3-
-
-
-
3Gain-
B3GNTL1-
-
-
-
6AmpRNF213--B3GNTL1
B4GALNT2-
-
-
-
9Amp-
B4GALT6-
-
-
-
3Gain-
BABAM1-
-
-
-
3Gain-
BACE1-
-
-
-
1Loss-
BACE2-
-
-
-
3Gain-
BACH1-
-
-
-
3Gain-
BAD-
-
-
-
1Loss-
BAG3p.V422A
Missense
SNP
0.489
2--
BAG4-
-
-
-
4Gain-
BAHCC1-
-
-
-
5Amp-
BAIAP2-
-
-
-
3Gain-
BANF2p.E79A
Missense
SNP
0.468
2--
BAP1-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BATF2-
-
-
-
1Loss-
BAZ2B-
-
-
-
1Loss-
BBS5-
-
-
-
1Loss-
BCAS3-
-
-
-
6Amp-
BCL2-
-
-
-
3Gain-
BCL2L12-
-
-
-
10Amp-
BCL6B-
-
-
-
1Loss-
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BEST1-
-
-
-
1Loss-
BEST2-
-
-
-
5Amp-
BHLHA9-
-
-
-
1Loss-
BHLHE23-
-
-
-
5Amp-
BIN1-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BIRC5-
-
-
-
14Amp-
BIRC7-
-
-
-
6Amp-
BIRC8-
-
-
-
9Amp-
BIVM-
-
-
-
5Amp-
BIVM-ERCC5-
-
-
-
5Amp-
BLID-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BMP7-
-
-
-
1Loss-
BMS1p.H290Tfs*2
Frame_Shift_Del
DEL
0.333
2--
BOD1L2-
-
-
-
3Gain-
BORCS8-
-
-
-
3Gain-
BORCS8-MEF2B-
-
-
-
3Gain-
BPGM-
-
-
-
4Gain-
BPTF-
-
-
-
3Gain-
BRAF-
-
-
-
3Gain-
BRCA2-
-
-
-
1Loss-
BRD4-
-
-
-
5Amp-
BRF2-
-
-
-
4Gain-
BRIP1-
-
-
-
6Amp-
BRSK1-
-
-
-
1Loss-
BRWD1-
-
-
-
3Gain-
BSCL2-
-
-
-
1Loss-
BST2-
-
-
-
3Gain-
BSX-
-
-
-
1Loss-
BTBD17-
-
-
-
8Amp-
BTG3-
-
-
-
3Gain-
BTG4-
-
-
-
1Loss-
BTKp.Y297*
Nonsense
SNP
0.500
NDND-
BUD13-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
8Amp-
C17orf113-
-
-
-
7Amp-
C17orf47-
-
-
-
5Amp-
C17orf49-
-
-
-
1Loss-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
6Amp-
C17orf67-
-
-
-
8Amp-
C17orf80-
-
-
-
8Amp-
C17orf97-
-
-
-
1Loss-
C17orf99-
-
-
-
14Amp-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63-
-
-
-
3Gain-
C19orf12-
-
-
-
3Gain-
C19orf18-
-
-
-
12Amp-
C19orf44-
-
-
-
3Gain-
C19orf47-
-
-
-
3Gain-
C19orf48-
-
-
-
6Amp-
C19orf53-
-
-
-
4Gain-
C19orf57-
-
-
-
4Gain-
C19orf67-
-
-
-
4Gain-
C19orf81-
-
-
-
6Amp-
C19orf84-
-
-
-
6Amp-
C1orf174-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QTNF1-
-
-
-
12Amp-
C1QTNF5-
-
-
-
1Loss-
C20orf85-
-
-
-
1Loss-
C21orf58-
-
-
-
3Gain-
C21orf62-
-
-
-
3Gain-
C21orf91-
-
-
-
3Gain-
C2CD2-
-
-
-
3Gain-
C2CD2L-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C7orf55-LUC7L2-
-
-
-
3Gain-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf86-
-
-
-
3Gain-
CA10-
-
-
-
13Amp-
CA4-
-
-
-
3Gain-
CAB39L-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABLES2-
-
-
-
6Amp-
CABS1p.D370N
Missense
SNP
0.531
2--
CABYR-
-
-
-
3Gain-
CACNA1A-
-
-
-
4Gain-
CACNA1D-
-
-
-
1Loss-
CACNA1G-
-
-
-
8Amp-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB4-
-
-
-
1Loss-
CACNG1-
-
-
-
3Gain-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CACNG6-
-
-
-
8Amp-
CACNG7-
-
-
-
8Amp-
CACNG8-
-
-
-
8Amp-
CADM1-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALCOCO2-
-
-
-
7Amp-
CALD1-
-
-
-
4Gain-
CALR-
-
-
-
4Gain-
CALR3-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMTA2-
-
-
-
8Amp-
CANT1-
-
-
-
12Amp-
CAPN1-
-
-
-
1Loss-
CAPNS1-
-
-
-
3Gain-
CARD14-
-
-
-
8Amp-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARS2-
-
-
-
4Gain-
CASKIN2-
-
-
-
6Amp-
CASP1-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP14-
-
-
-
4Gain-
CASP2-
-
-
-
3Gain-
CASP3-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASS4-
-
-
-
1Loss-
CATSPERZ-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLN2-
-
-
-
3Gain-
CBLN4-
-
-
-
1Loss-
CBR1-
-
-
-
3Gain-
CBR3-
-
-
-
3Gain-
CBS-
-
-
-
3Gain-
CBX1-
-
-
-
5Amp-
CBX2-
-
-
-
10Amp-
CBX4-
-
-
-
10Amp-
CBX8-
-
-
-
10Amp-
CC2D1A-
-
-
-
4Gain-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
3Gain-
CCDC102B-
-
-
-
3Gain-
CCDC105-
-
-
-
4Gain-
CCDC106-
-
-
-
1Loss-
CCDC110-
-
-
-
1Loss-
CCDC115-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC124-
-
-
-
3Gain-
CCDC130-
-
-
-
4Gain-
CCDC136-
-
-
-
3Gain-
CCDC137-
-
-
-
5Amp-
CCDC141-
-
-
-
1Loss-
CCDC148-
-
-
-
1Loss-
CCDC15-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC155-
-
-
-
10Amp-
CCDC168-
-
-
-
3Gain-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC173-
-
-
-
1Loss-
CCDC178-
-
-
-
3Gain-
CCDC194-
-
-
-
3Gain-
CCDC25-
-
-
-
1Loss-
CCDC27-
-
-
-
1Loss-
CCDC40-
-
-
-
10AmpCCDC40--METTL23
CCDC40--AC005837.2
CCDC47-
-
-
-
6Amp-
CCDC57-
-
-
-
5Amp-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
3Gain-
CCDC70-
-
-
-
1Loss-
CCDC74A-
-
-
-
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCNA1-
-
-
-
1Loss-
CCNE1-
-
-
-
3Gain-
CCNT2-
-
-
-
1Loss-
CCT8-
-
-
-
3Gain-
CD1Cp.W71L
Missense
SNP
0.672
2--
CD22-
-
-
-
3Gain-
CD226-
-
-
-
3Gain-
CD300A-
-
-
-
8Amp-
CD300C-
-
-
-
8Amp-
CD300E-
-
-
-
8Amp-
CD300LB-
-
-
-
8Amp-
CD300LD-
-
-
-
8Amp-
CD300LF-
-
-
-
8Amp-
CD302-
-
-
-
1Loss-
CD33-
-
-
-
6Amp-
CD37-
-
-
-
8Amp-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD7-
-
-
-
7Amp-
CD79B-
-
-
-
5Amp-
CD93-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDC16-
-
-
-
5Amp-
CDC42BPG-
-
-
-
1Loss-
CDC42EP2-
-
-
-
1Loss-
CDC42EP4-
-
-
-
8Amp-
CDC42EP5-
-
-
-
7Amp-
CDCA2-
-
-
-
1Loss-
CDCA5-
-
-
-
1Loss-
CDCA7-
-
-
-
1Loss-
CDH13p.L471I
Missense
SNP
0.408
2--
CDH19-
-
-
-
3Gain-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH26-
-
-
-
1Loss-
CDH4-
-
-
-
1Loss-
CDH7-
-
-
-
3Gain-
CDHR4-
-
-
-
1Loss-
CDK3-
-
-
-
5Amp-
CDK5RAP3-
-
-
-
7Amp-
CDKN2AIP-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDR2L-
-
-
-
11Amp-
CEACAM18-
-
-
-
6Amp-
CEBPA-
-
-
-
3Gain-
CEBPB-
-
-
-
1Loss-
CEBPG-
-
-
-
3Gain-
CELF4-
-
-
-
3Gain-
CENPU-
-
-
-
1Loss-
CENPX-
-
-
-
5Amp-
CEP104-
-
-
-
1Loss-
CEP112-
-
-
-
5AmpTBCD--CEP112
CEP126-
-
-
-
1Loss-
CEP131-
-
-
-
3Gain-
CEP135-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP170p.L1158P
Missense
SNP
0.310
2--
CEP192-
-
-
-
3Gain-
CEP295-
-
-
-
1Loss-
CEP295NL-
-
-
-
10Amp-
CEP41-
-
-
-
3Gain-
CEP44-
-
-
-
3Gain-
CEP57-
-
-
-
1Loss-
CEP76-
-
-
-
3Gain-
CEP89-
-
-
-
3Gain-
CEP95-
-
-
-
5Amp-
CERS1-
-
-
-
3Gain-
CERS6-
-
-
-
1Loss-
CETN1-
-
-
-
3Gain-
CFAP298-
-
-
-
3Gain-
CFAP300-
-
-
-
1Loss-
CFAP410-
-
-
-
3Gain-
CFAP53-
-
-
-
3Gain-
CFAP97-
-
-
-
1Loss-
CFC1-
-
-
-
1Loss-
CFC1B-
-
-
-
1Loss-
CFIp.E548K
Missense
SNP
0.500
2--
CFL1-
-
-
-
1Loss-
CFTR-
-
-
-
3Gain-
CHAD-
-
-
-
8Amp-
CHAF1B-
-
-
-
3Gain-
CHAMP1-
-
-
-
5Amp-
CHCHD3-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHERP-
-
-
-
3Gain-
CHMP1B-
-
-
-
3Gain-
CHMP2A-
-
-
-
6Amp-
CHMP6-
-
-
-
3Gain-
CHMP7-
-
-
-
1Loss-
CHN1-
-
-
-
1Loss-
CHODL-
-
-
-
3Gain-
CHORDC1-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM2-
-
-
-
3Gain-
CHRM5-
-
-
-
1Loss-
CHRNA1-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA4-
-
-
-
6Amp-
CHRNA7-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNE-
-
-
-
8Amp-
CHST8-
-
-
-
3Gain-
CHST9-
-
-
-
3Gain-
CIB3-
-
-
-
3Gain-
CIDEA-
-
-
-
3Gain-
CILP2-
-
-
-
3Gain-
CIR1-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CLCN3-
-
-
-
1Loss-
CLDN14-
-
-
-
3Gain-
CLDN17-
-
-
-
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDN8-
-
-
-
3Gain-
CLDND2-
-
-
-
6Amp-
CLEC10A-
-
-
-
1Loss-
CLEC11A-
-
-
-
6Amp-
CLEC17A-
-
-
-
4Gain-
CLEC2L-
-
-
-
3Gain-
CLEC5A-
-
-
-
1Loss-
CLIC6-
-
-
-
3Gain-
CLIP3-
-
-
-
3Gain-
CLMP-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLOCK-
-
-
-
1Loss-
CLTC-
-
-
-
3Gain-
CLU-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
3Gain-
CLYBL-
-
-
-
3Gain-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNMD-
-
-
-
1Loss-
CNOT3-
-
-
-
10Amp-
CNOT4-
-
-
-
4Gain-
CNOT7-
-
-
-
1Loss-
CNP-
-
-
-
7Amp-
CNTD2-
-
-
-
3Gain-
CNTN3-
-
-
-
1Loss-
CNTN5-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COBLL1-
-
-
-
1Loss-
COG1-
-
-
-
8Amp-
COG3-
-
-
-
1Loss-
COIL-
-
-
-
8Amp-
COL18A1-
-
-
-
3Gain-
COL1A1-
-
-
-
8Amp-
COL20A1-
-
-
-
6Amp-
COL3A1-
-
-
-
1Loss-
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL4A3-
-
-
-
1Loss-
COL5A2-
-
-
-
1Loss-
COL6A1-
-
-
-
3Gain-
COL6A2-
-
-
-
3Gain-
COL9A1-
-
-
-
1Loss-
COL9A3-
-
-
-
5Amp-
COLCA2-
-
-
-
1Loss-
COLEC12-
-
-
-
3Gain-
COLGALT1-
-
-
-
3Gain-
COMP-
-
-
-
3Gain-
COPE-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPZ2-
-
-
-
7Amp-
COX11-
-
-
-
8Amp-
COX6B1-
-
-
-
3Gain-
COX6B2-
-
-
-
1Loss-
COX7A1-
-
-
-
3Gain-
COX8A-
-
-
-
1Loss-
CPAMD8-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPSF4L-
-
-
-
8Amp-
CPT1C-
-
-
-
10Amp-
CREB3L2-
-
-
-
3Gain-
CREBZF-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRLF1-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRTC1-
-
-
-
3Gain-
CRYAA-
-
-
-
3Gain-
CRYAB-
-
-
-
1Loss-
CRYL1-
-
-
-
1Loss-
CRYZL1-
-
-
-
3Gain-
CSGALNACT1-
-
-
-
1Loss-
CSH1-
-
-
-
6Amp-
CSH2-
-
-
-
6Amp-
CSHL1-
-
-
-
6Amp-
CSKMT-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1D-
-
-
-
7Amp-
CSRNP3-
-
-
-
1Loss-
CST1-
-
-
-
1Loss-
CST11-
-
-
-
1Loss-
CST2-
-
-
-
1Loss-
CST3-
-
-
-
1Loss-
CST4-
-
-
-
1Loss-
CST5-
-
-
-
1Loss-
CST7-
-
-
-
1Loss-
CST8-
-
-
-
1Loss-
CST9-
-
-
-
1Loss-
CST9L-
-
-
-
1Loss-
CSTB-
-
-
-
3Gain-
CSTF1-
-
-
-
1Loss-
CSTL1-
-
-
-
1Loss-
CTAGE1-
-
-
-
3Gain-
CTCFL-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
3Gain-
CTIF-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSW-
-
-
-
1Loss-
CTSZ-
-
-
-
1Loss-
CTTNBP2p.X1179_splice
Splice_Site
SNP
0.447
3Gain-
CTU1-
-
-
-
6Amp-
CUL4A-
-
-
-
4Gain-
CUL5-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWC22-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CXADR-
-
-
-
3Gain-
CXCL16-
-
-
-
9Amp-
CXCR5-
-
-
-
1Loss-
CXXC1-
-
-
-
3Gain-
CYB561-
-
-
-
6Amp-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
3Gain-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYBC1-
-
-
-
7Amp-
CYBRD1-
-
-
-
1Loss-
CYFIP1p.H418Q
Missense
SNP
1.000
1Loss-
CYGB-
-
-
-
5Amp-
CYP27C1-
-
-
-
1Loss-
CYP4F11-
-
-
-
3Gain-
CYP4F12-
-
-
-
5Amp-
CYP4F2-
-
-
-
5Amp-
CYP4F22-
-
-
-
5Amp-
CYP4F3-
-
-
-
5Amp-
CYP4F8-
-
-
-
5Amp-
CYP4V2-
-
-
-
1Loss-
CYREN-
-
-
-
4Gain-
CYSLTR2-
-
-
-
1Loss-
CYTH1-
-
-
-
10Amp-
CYTIP-
-
-
-
1Loss-
CYYR1-
-
-
-
3Gain-
DAGLA-
-
-
-
1Loss-
DAND5-
-
-
-
4Gain-
DAOA-
-
-
-
3Gain-
DAPL1-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF15-
-
-
-
4Gain-
DCAF17-
-
-
-
1Loss-
DCAF7-
-
-
-
6Amp-
DCC-
-
-
-
3Gain-
DCLK1-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCTD-
-
-
-
1Loss-
DCTN6-
-
-
-
5Amp-
DCUN1D2-
-
-
-
4Gain-
DCUN1D5-
-
-
-
1Loss-
DCXR-
-
-
-
5Amp-
DDA1-
-
-
-
3Gain-
DDHD2-
-
-
-
4Gain-
DDI1-
-
-
-
1Loss-
DDIAS-
-
-
-
1Loss-
DDX10-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX39A-
-
-
-
4Gain-
DDX42-
-
-
-
6Amp-
DDX49-
-
-
-
3Gain-
DDX5-
-
-
-
5Amp-
DDX6-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB130A-
-
-
-
1Loss-
DEFB130B-
-
-
-
1Loss-
DEFB131A-
-
-
-
3Gain-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DENND2A-
-
-
-
5Amp-
DENND6A-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DEUP1-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGKBp.K153R
Missense
SNP
0.452
2--
DGKE-
-
-
-
8Amp-
DGKI-
-
-
-
3Gain-
DHPS-
-
-
-
5Amp-
DHRS12-
-
-
-
1Loss-
DHRS9-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX40-
-
-
-
3Gain-
DHX58-
-
-
-
7Amp-
DIDO1-
-
-
-
5Amp-
DIP2A-
-
-
-
3Gain-
DIRC1-
-
-
-
1Loss-
DIXDC1-
-
-
-
1Loss-
DKKL1-
-
-
-
10Amp-
DLAT-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG2-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP1-
-
-
-
3Gain-
DLGAP2-
-
-
-
1Loss-
DLX1-
-
-
-
1Loss-
DLX2-
-
-
-
1Loss-
DLX3-
-
-
-
6Amp-
DLX4-
-
-
-
6Amp-
DMKN-
-
-
-
3Gain-
DMTN-
-
-
-
1Loss-
DNAAF3-
-
-
-
1Loss-
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH17p.E848K
Missense
SNP
0.063
17Amp-
DNAH2-
-
-
-
1Loss-
DNAI2-
-
-
-
8Amp-
DNAJB1-
-
-
-
4Gain-
DNAJB6-
-
-
-
1Loss-
DNAJC13p.P1901R
Missense
SNP
0.419
2--
DNAJC15-
-
-
-
1Loss-
DNAJC28-
-
-
-
3Gain-
DNAJC4-
-
-
-
1Loss-
DNAJC5-
-
-
-
8Amp-
DNAJC7-
-
-
-
7Amp-
DNASE1L3-
-
-
-
1Loss-
DNASE2-
-
-
-
4Gain-
DNMT3L-
-
-
-
3Gain-
DOC2B-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK9-
-
-
-
3Gain-
DOK2-
-
-
-
1Loss-
DOK6-
-
-
-
3Gain-
DONSON-
-
-
-
3Gain-
DOP1B-
-
-
-
3Gain-
DPAGT1-
-
-
-
1Loss-
DPF2-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPP4-
-
-
-
1Loss-
DPP6-
-
-
-
1Loss-
DPRX-
-
-
-
9Amp-
DPY19L3-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DSC1-
-
-
-
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSCAM-
-
-
-
3Gain-
DSCAML1-
-
-
-
1Loss-
DSEL-
-
-
-
3Gain-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DTNA-
-
-
-
3Gain-
DUS1L-
-
-
-
5Amp-
DUSP26-
-
-
-
1Loss-
DUSP4-
-
-
-
5Amp-
DUSP7-
-
-
-
1Loss-
DUXA-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1H1-
-
-
-
3Gain-
DYNC1I2-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYRK1A-
-
-
-
3Gain-
DYRK2p.G545E
Missense
SNP
0.511
2--
EBF2-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
EDN3-
-
-
-
1Loss-
EED-
-
-
-
1Loss-
EEF1A2-
-
-
-
6Amp-
EEF1AKMT1-
-
-
-
1Loss-
EEF1G-
-
-
-
1Loss-
EFCAB3-
-
-
-
6Amp-
EFEMP2-
-
-
-
1Loss-
EFHB-
-
-
-
3Gain-
EFNB2-
-
-
-
3Gain-
EFNB3-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EIF1-
-
-
-
7Amp-
EIF4A1-
-
-
-
1Loss-
EIF4A3-
-
-
-
8Amp-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
4Gain-
EIF4EBP3-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
ELAC1-
-
-
-
3Gain-
ELL-
-
-
-
3Gain-
ELMO2p.K70T
Missense
SNP
0.375
2--
ELMOD1-
-
-
-
1Loss-
ELOA2-
-
-
-
3Gain-
ELP2-
-
-
-
3Gain-
ELP3-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
EMC10-
-
-
-
6Amp-
EMC4-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EME1-
-
-
-
8Amp-
EMILIN2-
-
-
-
3Gain-
EML3-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENDOV-
-
-
-
3Gain-
ENGASE-
-
-
-
12Amp-
ENO3-
-
-
-
8Amp-
ENOSF1-
-
-
-
3Gain-
ENOX1-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENPP7-
-
-
-
10Amp-
ENTPD4-
-
-
-
1Loss-
ENTPD6-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EPB41L3-
-
-
-
3Gain-
EPC2-
-
-
-
1Loss-
EPG5-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPHX3-
-
-
-
4Gain-
EPN1-
-
-
-
1Loss-
EPN3-
-
-
-
8Amp-
EPS15L1-
-
-
-
3Gain-
EPS8L1-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC3-
-
-
-
1Loss-
ERCC5-
-
-
-
5Amp-
ERG-
-
-
-
3Gain-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH2-
-
-
-
1Loss-
ERICH6B-
-
-
-
1Loss-
ERLIN2-
-
-
-
4Gain-
ERMN-
-
-
-
1Loss-
ERN1-
-
-
-
5Amp-
ERVV-1-
-
-
-
9Amp-
ERVV-2-
-
-
-
9Amp-
ESAM-
-
-
-
1Loss-
ESCO1-
-
-
-
3Gain-
ESCO2-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESR1p.D538G
Missense
SNP
0.525
2--
ESRRA-
-
-
-
1Loss-
ESYT2-
-
-
-
1Loss-
ETFB-
-
-
-
6Amp-
ETS1-
-
-
-
1Loss-
ETS2-
-
-
-
3Gain-
ETV2-
-
-
-
3Gain-
EVA1C-
-
-
-
3Gain-
EVPL-
-
-
-
5Amp-
EVX2-
-
-
-
1Loss-
EXOC1-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC7-
-
-
-
5Amp-
EXOSC8-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
F10-
-
-
-
4Gain-
F11-
-
-
-
1Loss-
F2RL3-
-
-
-
3Gain-
F7-
-
-
-
4Gain-
FAAP100-
-
-
-
5Amp-
FAAP24-
-
-
-
3Gain-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FADS6-
-
-
-
11Amp-
FAM104A-
-
-
-
8Amp-
FAM107A-
-
-
-
1Loss-
FAM117A-
-
-
-
9Amp-
FAM118B-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM129C-
-
-
-
3Gain-
FAM135Bp.L210V
Missense
SNP
0.538
2--
FAM149A-
-
-
-
1Loss-
FAM155A-
-
-
-
3Gain-
FAM160B2-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM168B-
-
-
-
1Loss-
FAM180A-
-
-
-
4Gain-
FAM181B-
-
-
-
1Loss-
FAM187B-
-
-
-
3Gain-
FAM189A1p.S500P
Missense
SNP
1.000
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM207A-
-
-
-
3Gain-
FAM208A-
-
-
-
1Loss-
FAM209A-
-
-
-
1Loss-
FAM209B-
-
-
-
1Loss-
FAM20A-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM210B-
-
-
-
1Loss-
FAM216B-
-
-
-
1Loss-
FAM217B-
-
-
-
1Loss-
FAM243A-
-
-
-
3Gain-
FAM32A-
-
-
-
3Gain-
FAM3B-
-
-
-
3Gain-
FAM3D-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69C-
-
-
-
3Gain-
FAM71E1-
-
-
-
6Amp-
FAM71E2-
-
-
-
1Loss-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM86B1-
-
-
-
1Loss-
FAM86B2-
-
-
-
1Loss-
FAM89B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FAP-
-
-
-
1Loss-
FARP1-
-
-
-
3Gain-
FARSA-
-
-
-
4Gain-
FASN-
-
-
-
5Amp-
FASTKD1-
-
-
-
1Loss-
FAT1-
-
-
-
1Loss-
FAT3-
-
-
-
1Loss-
FAU-
-
-
-
1Loss-
FBF1-
-
-
-
6Amp-
FBXO15-
-
-
-
3Gain-
FBXO16-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO8-
-
-
-
3Gain-
FBXW9-
-
-
-
5Amp-
FCAR-
-
-
-
1Loss-
FCGRT-
-
-
-
10Amp-
FCHO1-
-
-
-
3Gain-
FDFT1-
-
-
-
1Loss-
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FDXR-
-
-
-
11Amp-
FECH-
-
-
-
3Gain-
FEN1-
-
-
-
1Loss-
FERMT3-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FFAR1-
-
-
-
3Gain-
FFAR2-
-
-
-
3Gain-
FFAR3-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF14-
-
-
-
3Gain-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFR1-
-
-
-
4Gain-
FGL1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHOD3-
-
-
-
3Gain-
FIBP-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FIZ1-
-
-
-
1Loss-
FKBP10-
-
-
-
7Amp-
FKBP2-
-
-
-
1Loss-
FKBP7-
-
-
-
1Loss-
FKBP8-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLRT1-
-
-
-
1Loss-
FLT3LG-
-
-
-
10Amp-
FMC1-
-
-
-
3Gain-
FMN1-
-
-
-
1Loss-
FMNL2-
-
-
-
1Loss-
FN3K-
-
-
-
7Amp-
FN3KRP-
-
-
-
7Amp-
FNDC11-
-
-
-
6Amp-
FNDC3A-
-
-
-
1Loss-
FOSL1-
-
-
-
1Loss-
FOXA2-
-
-
-
3Gain-
FOXJ1-
-
-
-
5Amp-
FOXK2-
-
-
-
7Amp-
FOXP1-
-
-
-
1Loss-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FPR1-
-
-
-
10AmpPPP2R1A--FPR1
FPR2-
-
-
-
10Amp-
FPR3-
-
-
-
10Amp-
FRMD4B-
-
-
-
1Loss-
FRMD8-
-
-
-
1Loss-
FRY-
-
-
-
1Loss-
FSCN2-
-
-
-
5Amp-
FSCN3-
-
-
-
3Gain-
FTCD-
-
-
-
3Gain-
FTH1-
-
-
-
1Loss-
FTSJ3-
-
-
-
6Amp-
FUBP1-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FUZ-
-
-
-
10Amp-
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FZD3-
-
-
-
1Loss-
G6PC2-
-
-
-
1Loss-
GAA-
-
-
-
8Amp-
GABARAP-
-
-
-
1Loss-
GABBR2p.E225A
Missense
SNP
0.435
2--
GABPA-
-
-
-
3Gain-
GABRA5-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GAD1-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
4Gain-
GALK1-
-
-
-
3Gain-
GALNT1-
-
-
-
3Gain-
GALNT11-
-
-
-
1Loss-
GALNT13-
-
-
-
1Loss-
GALNT3-
-
-
-
1Loss-
GALNT5-
-
-
-
1Loss-
GALNT7-
-
-
-
1Loss-
GALNTL5-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALP-
-
-
-
8Amp-
GALR1-
-
-
-
3Gain-
GALR2-
-
-
-
5Amp-
GANAB-
-
-
-
1Loss-
GAPDHS-
-
-
-
3Gain-
GAREM1-
-
-
-
3Gain-
GART-
-
-
-
3Gain-
GAS6-
-
-
-
3Gain-
GAST-
-
-
-
7Amp-
GATA3p.N332Efs*21
Frame_Shift_Ins
INS
0.324
2--
GATA4-
-
-
-
1Loss-
GATA5-
-
-
-
5Amp-
GATA6-
-
-
-
3Gain-
GATAD2A-
-
-
-
3Gain-
GATD3A-
-
-
-
3Gain-
GCA-
-
-
-
1Loss-
GCC1-
-
-
-
3Gain-
GCDH-
-
-
-
4Gain-
GCG-
-
-
-
1Loss-
GCGR-
-
-
-
5Amp-
GCN1-
-
-
-
1Loss-
GCNT7-
-
-
-
1Loss-
GDF1-
-
-
-
3Gain-
GDF15-
-
-
-
3Gain-
GDPD1-
-
-
-
6Amp-
GEMIN4-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GFY-
-
-
-
10Amp-
GGA3-
-
-
-
8Amp-
GGACT-
-
-
-
3Gain-
GGT6-
-
-
-
9Amp-
GGTLC1-
-
-
-
1Loss-
GH1-
-
-
-
6Amp-
GH2-
-
-
-
6Amp-
GID8-
-
-
-
5Amp-
GIMAP8-
-
-
-
3Gain-
GINS1-
-
-
-
1Loss-
GIP-
-
-
-
5Amp-
GIPC1-
-
-
-
4Gain-
GJA3-
-
-
-
1Loss-
GJB2-
-
-
-
1Loss-
GJB6-
-
-
-
1Loss-
GJD2-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLRA3-
-
-
-
3Gain-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
8Amp-
GLYCTK-
-
-
-
1Loss-
GMEB2-
-
-
-
6Amp-
GMIP-
-
-
-
3Gain-
GMPPB-
-
-
-
1Loss-
GNA13-
-
-
-
3Gain-
GNAI2-
-
-
-
1Loss-
GNAL-
-
-
-
3Gain-
GNAS-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNG3-
-
-
-
1Loss-
GNGT2-
-
-
-
9Amp-
GNL3-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA6L1-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L22-
-
-
-
1Loss-
GOLGA6L6-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8H-
-
-
-
1Loss-
GOLGA8J-
-
-
-
1Loss-
GOLGA8K-
-
-
-
1Loss-
GOLGA8M-
-
-
-
1Loss-
GOLGA8N-
-
-
-
1Loss-
GOLGA8O-
-
-
-
1Loss-
GOLGA8Q-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLGA8T-
-
-
-
1Loss-
GORASP2-
-
-
-
1Loss-
GOT1L1-
-
-
-
4Gain-
GP1BA-
-
-
-
8Amp-
GP6-
-
-
-
1Loss-
GPALPP1-
-
-
-
1Loss-
GPATCH1-
-
-
-
3Gain-
GPHA2-
-
-
-
1Loss-
GPI-
-
-
-
3Gain-
GPM6A-
-
-
-
4Gain-
GPR137-
-
-
-
1Loss-
GPR142-
-
-
-
8Amp-
GPR148-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR155-
-
-
-
1Loss-
GPR17-
-
-
-
1Loss-
GPR18-
-
-
-
3Gain-
GPR183-
-
-
-
3Gain-
GPR27-
-
-
-
1Loss-
GPR32-
-
-
-
6Amp-
GPR39-
-
-
-
1Loss-
GPR42-
-
-
-
3Gain-
GPR62-
-
-
-
1Loss-
GPR83-
-
-
-
1Loss-
GPRC5C-
-
-
-
8Amp-
GPS1-
-
-
-
5Amp-
GPS2-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRB14-
-
-
-
1Loss-
GRB2-
-
-
-
8Amp-
GREM1-
-
-
-
1Loss-
GRIA4-
-
-
-
1Loss-
GRIK1-
-
-
-
3Gain-
GRIK4-
-
-
-
1Loss-
GRIN2C-
-
-
-
11Amp-
GRK1-
-
-
-
3Gain-
GRM2-
-
-
-
1Loss-
GRP-
-
-
-
3Gain-
GRTP1-
-
-
-
4Gain-
GSR-
-
-
-
5Amp-
GSTK1-
-
-
-
3Gain-
GTDC1-
-
-
-
1Loss-
GTF2E2-
-
-
-
5Amp-
GTF2F2-
-
-
-
1Loss-
GTPBP3-
-
-
-
3Gain-
GUCY1A2-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYPC-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
H3F3B-
-
-
-
3Gain-
HAMP-
-
-
-
3Gain-
HAND2-
-
-
-
3Gain-
HAP1-
-
-
-
7Amp-
HAPLN4-
-
-
-
3Gain-
HAS1-
-
-
-
10Amp-
HASPIN-
-
-
-
1Loss-
HAT1-
-
-
-
1Loss-
HAUS1-
-
-
-
3Gain-
HAUS5-
-
-
-
3Gain-
HAUS8-
-
-
-
3Gain-
HCST-
-
-
-
3Gain-
HDHD2-
-
-
-
3Gain-
HEATR6-
-
-
-
3Gain-
HELT-
-
-
-
1Loss-
HELZ-
-
-
-
3GainHELZ--AC007423.1
HELZ2-
-
-
-
6Amp-
HEMK1-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXDC-
-
-
-
7Amp-
HGS-
-
-
-
5Amp-
HIC1-
-
-
-
1Loss-
HID1-
-
-
-
11Amp-
HIKESHI-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HINFP-
-
-
-
1Loss-
HIPK2-
-
-
-
3Gain-
HIPK4-
-
-
-
3Gain-
HLCS-
-
-
-
3Gain-
HLF-
-
-
-
5Amp-
HMBOX1-
-
-
-
5Amp-
HMBS-
-
-
-
1Loss-
HMGB2-
-
-
-
3Gain-
HMGCRp.N156T
Missense
SNP
0.308
2--
HMGN1-
-
-
-
3Gain-
HMSD-
-
-
-
3Gain-
HNRNPA1L2-
-
-
-
1Loss-
HNRNPA3-
-
-
-
1Loss-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOMER3-
-
-
-
3Gain-
HOOK2-
-
-
-
4Gain-
HOPX-
-
-
-
1Loss-
HOXB1-
-
-
-
3Gain-
HOXB13-
-
-
-
7Amp-
HOXB2-
-
-
-
3Gain-
HOXB3-
-
-
-
3Gain-
HOXB4-
-
-
-
3Gain-
HOXB5-
-
-
-
3Gain-
HOXB6-
-
-
-
3Gain-
HOXB7-
-
-
-
3Gain-
HOXB8-
-
-
-
3Gain-
HOXB9-
-
-
-
3Gain-
HOXD1-
-
-
-
1Loss-
HOXD10-
-
-
-
1Loss-
HOXD11-
-
-
-
1Loss-
HOXD12-
-
-
-
1Loss-
HOXD13-
-
-
-
1Loss-
HOXD3-
-
-
-
1Loss-
HOXD4-
-
-
-
1Loss-
HOXD8-
-
-
-
1Loss-
HOXD9-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
3Gain-
HR-
-
-
-
1Loss-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRH3-
-
-
-
6Amp-
HRH4-
-
-
-
3Gain-
HS6ST1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
3Gain-
HSF2BP-
-
-
-
3Gain-
HSF5-
-
-
-
5Amp-
HSH2D-
-
-
-
3Gain-
HSPA13-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB6-
-
-
-
3Gain-
HSPBP1-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTRA4-
-
-
-
3Gain-
HUNK-
-
-
-
3Gain-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
ICAM2-
-
-
-
5Amp-
ICMT-
-
-
-
1Loss-
ICOSLG-
-
-
-
3Gain-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IER2-
-
-
-
4Gain-
IER3IP1-
-
-
-
3Gain-
IFI30-
-
-
-
3Gain-
IFIH1-
-
-
-
1Loss-
IFNAR1-
-
-
-
3Gain-
IFNAR2-
-
-
-
3Gain-
IFNGR2-
-
-
-
3Gain-
IFRD2-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT88-
-
-
-
1Loss-
IGF2BP1-
-
-
-
5Amp-
IGFBP7-
-
-
-
1Loss-
IGFLR1-
-
-
-
3Gain-
IGLON5-
-
-
-
6Amp-
IGSF5-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL10RB-
-
-
-
3Gain-
IL11-
-
-
-
1Loss-
IL12RB1-
-
-
-
3Gain-
IL17D-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL18-
-
-
-
1Loss-
IL27RA-
-
-
-
4Gain-
IL4I1-
-
-
-
10Amp-
ILVBL-
-
-
-
4Gain-
IMP4-
-
-
-
1Loss-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
INCA1-
-
-
-
8Amp-
INCENP-
-
-
-
1Loss-
ING1-
-
-
-
4Gain-
ING2-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INO80C-
-
-
-
3Gain-
INPP5K-
-
-
-
1Loss-
INSL3-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS2-
-
-
-
6Amp-
INTS5-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
INTS9-
-
-
-
5Amp-
IP6K1-
-
-
-
1Loss-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCN-
-
-
-
3Gain-
IRF2-
-
-
-
1Loss-
IRF3-
-
-
-
10Amp-
IRF5-
-
-
-
3Gain-
IRS2-
-
-
-
3Gain-
ISOC2-
-
-
-
1Loss-
ISYNA1-
-
-
-
3Gain-
ITGA3-
-
-
-
6Amp-
ITGA6-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGB2-
-
-
-
3Gain-
ITGB4-
-
-
-
6AmpITGB4--AC126544.2
ITGB6-
-
-
-
1Loss-
ITGBL1-
-
-
-
3Gain-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITSN1-
-
-
-
3Gain-
IWS1-
-
-
-
1Loss-
IZUMO1R-
-
-
-
1Loss-
IZUMO2-
-
-
-
12Amp-
JAK3-
-
-
-
3Gain-
JAM2-
-
-
-
3Gain-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD6-
-
-
-
7Amp-
JOSD2-
-
-
-
6Amp-
JPT1-
-
-
-
8Amp-
JRKL-
-
-
-
1Loss-
JUNB-
-
-
-
4Gain-
JUND-
-
-
-
3Gain-
JUP-
-
-
-
7Amp-
KAT2B-
-
-
-
3Gain-
KAT5-
-
-
-
1Loss-
KAT7-
-
-
-
6Amp-
KATNAL2-
-
-
-
3Gain-
KATNBL1-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD3-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA3p.E42A
Missense
SNP
0.461
2--
KCNAB2-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNC3-
-
-
-
5Amp-
KCNE1-
-
-
-
3Gain-
KCNE2-
-
-
-
3Gain-
KCNG2-
-
-
-
3Gain-
KCNH6-
-
-
-
6Amp-
KCNH7-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ15-
-
-
-
3Gain-
KCNJ16-
-
-
-
3Gain-
KCNJ2-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNJ6-
-
-
-
3Gain-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNN1-
-
-
-
3Gain-
KCNQ2-
-
-
-
6Amp-
KCNRG-
-
-
-
1Loss-
KCNU1-
-
-
-
3Gain-
KCP-
-
-
-
3Gain-
KCTD1-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD15-
-
-
-
3Gain-
KCTD2-
-
-
-
8Amp-
KCTD4-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELC1-
-
-
-
3Gain-
KDELC2-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDR-
-
-
-
1Loss-
KDSR-
-
-
-
3Gain-
KIAA0355-
-
-
-
3Gain-
KIAA0753-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1328-
-
-
-
3Gain-
KIAA1549-
-
-
-
5Amp-
KIF13B-
-
-
-
5Amp-
KIF19-
-
-
-
8Amp-
KIF1C-
-
-
-
8Amp-
KIF5C-
-
-
-
1Loss-
KIR2DL1-
-
-
-
7Amp-
KIR2DL3-
-
-
-
7Amp-
KIR2DL4-
-
-
-
7Amp-
KIR3DL1p.L342V
p.L362F
Missense
Missense
SNP
SNP
0.265
0.274
7Amp-
KIR3DL2-
-
-
-
1Loss-
KIR3DL3-
-
-
-
7Amp-
KIRREL2-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KIT-
-
-
-
1Loss-
KL-
-
-
-
1Loss-
KLF1-
-
-
-
4Gain-
KLF13-
-
-
-
1Loss-
KLF14-
-
-
-
3Gain-
KLF2-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHL10-
-
-
-
7Amp-
KLHL11-
-
-
-
7Amp-
KLHL14-
-
-
-
3Gain-
KLHL23-
-
-
-
1Loss-
KLHL26-
-
-
-
3Gain-
KLHL41-
-
-
-
1Loss-
KLK1-
-
-
-
6Amp-
KLK10-
-
-
-
6Amp-
KLK11-
-
-
-
6Amp-
KLK12-
-
-
-
6Amp-
KLK13-
-
-
-
6Amp-
KLK14-
-
-
-
6Amp-
KLK15-
-
-
-
6Amp-
KLK2-
-
-
-
6Amp-
KLK3-
-
-
-
6Amp-
KLK4-
-
-
-
6Amp-
KLK5-
-
-
-
6Amp-
KLK6-
-
-
-
6Amp-
KLK7-
-
-
-
6Amp-
KLK8-
-
-
-
6Amp-
KLK9-
-
-
-
6Amp-
KLKB1-
-
-
-
1Loss-
KLRG2-
-
-
-
3Gain-
KMT2A-
-
-
-
1Loss-
KMT2B-
-
-
-
3Gain-
KMT2C-
-
-
-
1Loss-
KMT5C-
-
-
-
1Loss-
KPNA2-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNB1-
-
-
-
4Gain-
KRTAP10-1-
-
-
-
3Gain-
KRTAP10-10-
-
-
-
3Gain-
KRTAP10-11-
-
-
-
3Gain-
KRTAP10-12-
-
-
-
3Gain-
KRTAP10-2-
-
-
-
3Gain-
KRTAP10-3-
-
-
-
3Gain-
KRTAP10-4-
-
-
-
3Gain-
KRTAP10-5-
-
-
-
3Gain-
KRTAP10-6-
-
-
-
3Gain-
KRTAP10-7-
-
-
-
3Gain-
KRTAP10-8-
-
-
-
3Gain-
KRTAP10-9-
-
-
-
3Gain-
KRTAP11-1-
-
-
-
3Gain-
KRTAP12-1-
-
-
-
3Gain-
KRTAP12-2-
-
-
-
3Gain-
KRTAP12-3-
-
-
-
3Gain-
KRTAP12-4-
-
-
-
3Gain-
KRTAP13-1-
-
-
-
3Gain-
KRTAP13-2-
-
-
-
3Gain-
KRTAP13-3-
-
-
-
3Gain-
KRTAP13-4-
-
-
-
3Gain-
KRTAP15-1-
-
-
-
3Gain-
KRTAP19-1-
-
-
-
3Gain-
KRTAP19-2-
-
-
-
3Gain-
KRTAP19-3-
-
-
-
3Gain-
KRTAP19-4-
-
-
-
3Gain-
KRTAP19-5-
-
-
-
3Gain-
KRTAP19-6-
-
-
-
3Gain-
KRTAP19-7-
-
-
-
3Gain-
KRTAP19-8-
-
-
-
3Gain-
KRTAP20-1-
-
-
-
3Gain-
KRTAP20-2-
-
-
-
3Gain-
KRTAP20-3-
-
-
-
3Gain-
KRTAP21-1-
-
-
-
3Gain-
KRTAP21-2-
-
-
-
3Gain-
KRTAP21-3-
-
-
-
3Gain-
KRTAP22-1-
-
-
-
3Gain-
KRTAP22-2-
-
-
-
3Gain-
KRTAP23-1-
-
-
-
3Gain-
KRTAP24-1-
-
-
-
3Gain-
KRTAP25-1-
-
-
-
3Gain-
KRTAP26-1-
-
-
-
3Gain-
KRTAP27-1-
-
-
-
3Gain-
KRTAP7-1-
-
-
-
3Gain-
KRTAP8-1-
-
-
-
3Gain-
KRTDAP-
-
-
-
3Gain-
KXD1-
-
-
-
3Gain-
KYNU-
-
-
-
1Loss-
L3MBTL4-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LAIR1-
-
-
-
7Amp-
LAIR2-
-
-
-
7Amp-
LAMA1-
-
-
-
3Gain-
LAMA3-
-
-
-
3Gain-
LAMA5-
-
-
-
6Amp-
LAMP1-
-
-
-
4Gain-
LATS2-
-
-
-
1Loss-
LAYN-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LCA5L-
-
-
-
3Gain-
LCP1-
-
-
-
1Loss-
LDLRAD4-
-
-
-
3Gain-
LENG1-
-
-
-
10Amp-
LENG8-
-
-
-
7Amp-
LENG9-
-
-
-
7Amp-
LEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
5Amp-
LETM2-
-
-
-
4Gain-
LGALS12-
-
-
-
1Loss-
LGALS3BP-
-
-
-
12Amp-
LGI3-
-
-
-
1Loss-
LIG4-
-
-
-
3Gain-
LILRA1-
-
-
-
7Amp-
LILRA2-
-
-
-
7Amp-
LILRA4-
-
-
-
7Amp-
LILRA5-
-
-
-
7Amp-
LILRA6-
-
-
-
7Amp-
LILRB1-
-
-
-
7Amp-
LILRB2-
-
-
-
7Amp-
LILRB3-
-
-
-
10Amp-
LILRB4-
-
-
-
7Amp-
LILRB5-
-
-
-
7Amp-
LIM2-
-
-
-
6Amp-
LIMD2-
-
-
-
6Amp-
LIME1-
-
-
-
8Amp-
LIMS2-
-
-
-
1Loss-
LIN37-
-
-
-
3Gain-
LIN9p.L479V
Missense
SNP
0.423
2--
LINC02340-
-
-
-
NDNDUSP12--LINC02340
LIPG-
-
-
-
3Gain-
LIPI-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
7Amp-
LLGL2-
-
-
-
6Amp-
LMAN1-
-
-
-
3Gain-
LMBR1-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LNPK-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOXHD1-
-
-
-
3Gain-
LOXL2-
-
-
-
1Loss-
LPAR2-
-
-
-
3Gain-
LPAR6-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPIN2-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRFN3-
-
-
-
3Gain-
LRGUK-
-
-
-
3Gain-
LRIG1-
-
-
-
1Loss-
LRP2-
-
-
-
1Loss-
LRP2BP-
-
-
-
1Loss-
LRP3-
-
-
-
3Gain-
LRRC10B-
-
-
-
1Loss-
LRRC25-
-
-
-
3Gain-
LRRC3-
-
-
-
3Gain-
LRRC30-
-
-
-
3Gain-
LRRC37A-
-
-
-
4Gain-
LRRC37A2-
-
-
-
4Gain-
LRRC37A3-
-
-
-
5Amp-
LRRC4-
-
-
-
3Gain-
LRRC45-
-
-
-
5Amp-
LRRC46-
-
-
-
7Amp-
LRRC47-
-
-
-
1Loss-
LRRC4B-
-
-
-
6Amp-
LRRC59-
-
-
-
8Amp-
LRRC61-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC66-
-
-
-
1Loss-
LRRN4CL-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSM1-
-
-
-
4Gain-
LSM14A-
-
-
-
3Gain-
LSM14B-
-
-
-
6Amp-
LSM4-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM2-
-
-
-
1Loss-
LSR-
-
-
-
3Gain-
LSS-
-
-
-
3Gain-
LTBP3-
-
-
-
1Loss-
LTN1-
-
-
-
3Gain-
LUC7L2-
-
-
-
3Gain-
LUC7L3-
-
-
-
8Amp-
LUZP6-
-
-
-
4Gain-
LY75-
-
-
-
1Loss-
LY75-CD302-
-
-
-
1Loss-
LYL1-
-
-
-
4Gain-
LYPD1-
-
-
-
1Loss-
LYPD6-
-
-
-
1Loss-
LYPD6B-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
MAB21L1-
-
-
-
1Loss-
MACROD1-
-
-
-
1Loss-
MAFG-
-
-
-
5Amp-
MAG-
-
-
-
3Gain-
MAGEL2-
-
-
-
1Loss-
MAGI1-
-
-
-
1Loss-
MAJIN-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MALT1-
-
-
-
3Gain-
MAML2-
-
-
-
1Loss-
MAN2B1-
-
-
-
5Amp-
MANF-
-
-
-
1Loss-
MAP1S-
-
-
-
3Gain-
MAP2K6-
-
-
-
3Gain-
MAP3K10-
-
-
-
3Gain-
MAP3K11-
-
-
-
1Loss-
MAP3K19-
-
-
-
1Loss-
MAP3K2-
-
-
-
1Loss-
MAP3K20-
-
-
-
1Loss-
MAP3K3-
-
-
-
6Amp-
MAP3K7CL-
-
-
-
3Gain-
MAP4K2-
-
-
-
1Loss-
MAPK4-
-
-
-
3Gain-
MAPKAPK3-
-
-
-
1Loss-
MAPRE2-
-
-
-
3Gain-
MARCH10-
-
-
-
6Amp-
MARCH7-
-
-
-
1Loss-
MARK2-
-
-
-
1Loss-
MAST1-
-
-
-
4Gain-
MAST3-
-
-
-
3Gain-
MAU2-
-
-
-
3Gain-
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBD5-
-
-
-
1Loss-
MBOAT4-
-
-
-
5Amp-
MBOAT7-
-
-
-
10Amp-
MBP-
-
-
-
3Gain-
MBTD1-
-
-
-
13Amp-
MC2R-
-
-
-
3Gain-
MC3R-
-
-
-
1Loss-
MC4R-
-
-
-
3Gain-
MC5R-
-
-
-
3Gain-
MCAM-
-
-
-
1Loss-
MCF2L-
-
-
-
3Gain-
MCM3AP-
-
-
-
3Gain-
MCPH1-
-
-
-
1Loss-
MCRIP1-
-
-
-
5Amp-
ME2-
-
-
-
3Gain-
ME3-
-
-
-
1Loss-
MED11-
-
-
-
9Amp-
MED13-
-
-
-
6Amp-
MED17-
-
-
-
1Loss-
MED25-
-
-
-
10Amp-
MED26-
-
-
-
3Gain-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MEF2B-
-
-
-
3Gain-
MEGF6-
-
-
-
1Loss-
MEGF8p.G2438S
Missense
SNP
0.532
2--
MEIS2-
-
-
-
1Loss-
MEN1-
-
-
-
1Loss-
MEP1B-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
METAP1D-
-
-
-
1Loss-
METRNL-
-
-
-
3Gain-
METTL16-
-
-
-
1Loss-
METTL21C-
-
-
-
3Gain-
METTL23-
-
-
-
10AmpCCDC40--METTL23
MRPL58--METTL23
METTL2A-
-
-
-
6Amp-
METTL2B-
-
-
-
3Gain-
METTL4-
-
-
-
3Gain-
METTL5-
-
-
-
1Loss-
METTL8-
-
-
-
1Loss-
MEX3C-
-
-
-
3Gain-
MFF-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFRP-
-
-
-
1Loss-
MFSD11-
-
-
-
10Amp-
MGAM-
-
-
-
1Loss-
MGAT5-
-
-
-
1Loss-
MGAT5B-
-
-
-
10Amp-
MIB1-
-
-
-
3Gain-
MICU2-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIF4GD-
-
-
-
8Amp-
MILR1-
-
-
-
5Amp-
MINK1-
-
-
-
8Amp-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
3Gain-
MITF-
-
-
-
1Loss-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
5Amp-
MKRN3-
-
-
-
1Loss-
MLIPp.S342C
Missense
SNP
0.563
2--
MLNR-
-
-
-
1Loss-
MMADHC-
-
-
-
1Loss-
MMD-
-
-
-
5Amp-
MMEL1-
-
-
-
1Loss-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP20-
-
-
-
1Loss-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
1Loss-
MOCOS-
-
-
-
3Gain-
MON1A-
-
-
-
1Loss-
MORC3-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPP6p.P69R
Missense
SNP
0.438
2--
MPPE1-
-
-
-
3Gain-
MPV17L2-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRAP-
-
-
-
3Gain-
MRC2-
-
-
-
6Amp-
MRE11-
-
-
-
1Loss-
MRGBP-
-
-
-
5Amp-
MRI1-
-
-
-
4Gain-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
3Gain-
MRPL10-
-
-
-
7Amp-
MRPL12-
-
-
-
5Amp-
MRPL27-
-
-
-
8Amp-
MRPL34-
-
-
-
3Gain-
MRPL38-
-
-
-
6Amp-
MRPL39-
-
-
-
3Gain-
MRPL49-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPL58-
-
-
-
8AmpMRPL58--SLC39A11
MRPL58--METTL23
MRPS33-
-
-
-
3Gain-
MRPS6-
-
-
-
3Gain-
MRPS7-
-
-
-
8Amp-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSI2-
-
-
-
11AmpRNF213--MSI2
MSI2--STXBP4
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MTA2-
-
-
-
1Loss-
MTCL1-
-
-
-
3Gain-
MTG2-
-
-
-
6Amp-
MTMR10-
-
-
-
1Loss-
MTMR2-
-
-
-
1Loss-
MTMR4-
-
-
-
5Amp-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTPN-
-
-
-
4Gain-
MTRNR2L3-
-
-
-
1Loss-
MTUS1-
-
-
-
1Loss-
MTX2-
-
-
-
1Loss-
MUC16p.T11922P
Missense
SNP
0.481
2--
MUC3Ap.N3050T
Missense
SNP
0.282
2--
MUS81-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MVB12A-
-
-
-
3Gain-
MX1-
-
-
-
3Gain-
MX2-
-
-
-
3Gain-
MXRA7-
-
-
-
7Amp-
MYADM-
-
-
-
7Amp-
MYADML2-
-
-
-
5Amp-
MYBBP1Ap.K125N
Missense
SNP
0.081
9Amp-
MYBPC2-
-
-
-
6Amp-
MYCBPAP-
-
-
-
8Amp-
MYH13-
-
-
-
10Amp-
MYH14-
-
-
-
7Amp-
MYH6p.G378V
Missense
SNP
0.420
2--
MYL12A-
-
-
-
3Gain-
MYL12B-
-
-
-
3Gain-
MYO16-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO3B-
-
-
-
1Loss-
MYO5B-
-
-
-
3Gain-
MYO7B-
-
-
-
1Loss-
MYO9B-
-
-
-
3Gain-
MYOCDp.Q733L
Missense
SNP
0.557
2--
MYOM1-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYT1-
-
-
-
7Amp-
MZF1-
-
-
-
6Amp-
MZT2A-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
N6AMT1-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NACA2-
-
-
-
6Amp-
NACADp.S815A
Missense
SNP
0.482
2--
NACC1-
-
-
-
4Gain-
NACC2p.K456T
Missense
SNP
0.562
2--
NALCN-
-
-
-
3Gain-
NANOGP8-
-
-
-
1Loss-
NANOS3-
-
-
-
4Gain-
NANP-
-
-
-
1Loss-
NAPG-
-
-
-
3Gain-
NAPSA-
-
-
-
5Amp-
NARF-
-
-
-
7Amp-
NARS-
-
-
-
3Gain-
NAT1-
-
-
-
1Loss-
NAT14-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NAT9-
-
-
-
11Amp-
NAXD-
-
-
-
4Gain-
NBEA-
-
-
-
1Loss-
NCAM1-
-
-
-
1Loss-
NCAM2-
-
-
-
3Gain-
NCAN-
-
-
-
3Gain-
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCKAP5-
-
-
-
1Loss-
NCR1-
-
-
-
1Loss-
NDC80-
-
-
-
3Gain-
NDN-
-
-
-
1Loss-
NDUFA13-
-
-
-
3Gain-
NDUFA3-
-
-
-
10Amp-
NDUFAF8-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NDUFB7-
-
-
-
4Gain-
NDUFV2-
-
-
-
3Gain-
NDUFV3-
-
-
-
3Gain-
NEB-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NEDD4L-
-
-
-
3Gain-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NELFCD-
-
-
-
1Loss-
NETO1-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NFATC1-
-
-
-
3Gain-
NFE2L1-
-
-
-
5Amp-
NFE2L2-
-
-
-
1Loss-
NFIX-
-
-
-
4Gain-
NFKBID-
-
-
-
3Gain-
NFRKB-
-
-
-
1Loss-
NGFR-
-
-
-
9Amp-
NINL-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NKAIN4-
-
-
-
6Amp-
NKAPD1-
-
-
-
1Loss-
NKG7-
-
-
-
6Amp-
NKIRAS2-
-
-
-
7Amp-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRP1p.R1289C
Missense
SNP
1.000
1Loss-
NLRP11-
-
-
-
8Amp-
NLRP12-
-
-
-
7Amp-
NLRP13-
-
-
-
8Amp-
NLRP2-
-
-
-
1Loss-
NLRP4-
-
-
-
8Amp-
NLRP5-
-
-
-
8Amp-
NLRP7-
-
-
-
1Loss-
NLRP8-
-
-
-
8Amp-
NLRX1-
-
-
-
1Loss-
NME1-
-
-
-
13Amp-
NME1-NME2-
-
-
-
13Amp-
NMI-
-
-
-
1Loss-
NMU-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NOA1-
-
-
-
1Loss-
NOG-
-
-
-
8Amp-
NOL11-
-
-
-
3Gain-
NOL4-
-
-
-
3Gain-
NOM1-
-
-
-
1Loss-
NOMO1-
-
-
-
3Gain-
NOP10-
-
-
-
1Loss-
NOSIP-
-
-
-
10Amp-
NOSTRIN-
-
-
-
1Loss-
NOTCH3-
-
-
-
4Gain-
NOTUM-
-
-
-
5Amp-
NOX4-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAT-
-
-
-
1Loss-
NPB-
-
-
-
5Amp-
NPBWR1p.W163*
Nonsense
SNP
0.483
2--
NPBWR2-
-
-
-
7Amp-
NPC1-
-
-
-
3Gain-
NPEPL1-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPHS1-
-
-
-
3Gain-
NPIPA1-
-
-
-
3Gain-
NPIPA3-
-
-
-
3Gain-
NPLOC4-
-
-
-
5Amp-
NPM2-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NPTX1-
-
-
-
3Gain-
NR1H2-
-
-
-
6Amp-
NR2C2AP-
-
-
-
3Gain-
NR2F6-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP1-
-
-
-
3Gain-
NRXN2-
-
-
-
1Loss-
NSD3-
-
-
-
4Gain-
NSF-
-
-
-
4Gain-
NSMCE3-
-
-
-
1Loss-
NT5C-
-
-
-
8Amp-
NT5C3B-
-
-
-
7Amp-
NT5DC2-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTSR1-
-
-
-
5Amp-
NUDT15-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT19-
-
-
-
3Gain-
NUDT22-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUP205-
-
-
-
4Gain-
NUP62-
-
-
-
10Amp-
NUP85-
-
-
-
8Amp-
NUP88-
-
-
-
7Amp-
NUTM1-
-
-
-
1Loss-
NWD1-
-
-
-
3Gain-
NXF1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
3Gain-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NXPH3-
-
-
-
9Amp-
OAF-
-
-
-
1Loss-
OCA2-
-
-
-
1Loss-
OCEL1-
-
-
-
3Gain-
OGFOD3-
-
-
-
7Amp-
OGFR-
-
-
-
5Amp-
OLA1-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OLIG1-
-
-
-
3Gain-
OLIG2-
-
-
-
3Gain-
ONECUT2-
-
-
-
3Gain-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPRL1-
-
-
-
7Amp-
OPTNp.*578Yext*53
Nonstop
SNP
0.484
2--
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H1-
-
-
-
5Amp-
OR10H2-
-
-
-
5Amp-
OR10H3-
-
-
-
5Amp-
OR10H4-
-
-
-
3Gain-
OR10H5-
-
-
-
5Amp-
OR10S1-
-
-
-
1Loss-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1-
-
-
-
4Gain-
OR1S1p.L197M
Missense
SNP
0.244
2--
OR1S2p.L197M
Missense
SNP
0.149
2--
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4D5-
-
-
-
1Loss-
OR4M2-
-
-
-
1Loss-
OR6M1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR7A10-
-
-
-
4Gain-
OR7A17-
-
-
-
4Gain-
OR7A5-
-
-
-
4Gain-
OR7C1-
-
-
-
4Gain-
OR7C2-
-
-
-
4Gain-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR9A2-
-
-
-
3Gain-
ORC4-
-
-
-
1Loss-
OSBPL1A-
-
-
-
3Gain-
OSBPL2-
-
-
-
6Amp-
OSBPL6-
-
-
-
1Loss-
OSBPL7-
-
-
-
7Amp-
OSCAR-
-
-
-
10Amp-
OTOP2-
-
-
-
11Amp-
OTOP3-
-
-
-
11Amp-
OTUB1-
-
-
-
1Loss-
OTUD4p.E957Gfs*6
Frame_Shift_Ins
INS
0.297
2--
OTUD7A-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVOL1-
-
-
-
1Loss-
OVOL3-
-
-
-
3Gain-
OXLD1-
-
-
-
5Amp-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P3H4-
-
-
-
7Amp-
P4HB-
-
-
-
5Amp-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAICS-
-
-
-
1Loss-
PALM3-
-
-
-
4Gain-
PANX1-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PARD6B-
-
-
-
1Loss-
PARD6G-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP3-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAXBP1-
-
-
-
3Gain-
PAXIP1-
-
-
-
1LossPAXIP1--TSGA13
PBK-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX4-
-
-
-
3Gain-
PCBP3-
-
-
-
3Gain-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
3Gain-
PCDH8-
-
-
-
1Loss-
PCF11-
-
-
-
1Loss-
PCID2-
-
-
-
4Gain-
PCK1-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMTD2-
-
-
-
5Amp-
PCNT-
-
-
-
3Gain-
PCNX3-
-
-
-
1Loss-
PCP4-
-
-
-
3Gain-
PCSK7-
-
-
-
1Loss-
PCTP-
-
-
-
5Amp-
PCYT2-
-
-
-
5Amp-
PDCD2L-
-
-
-
3Gain-
PDCD5-
-
-
-
3Gain-
PDCL2-
-
-
-
1Loss-
PDE11A-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE4C-
-
-
-
3Gain-
PDE6G-
-
-
-
5Amp-
PDE9A-
-
-
-
3Gain-
PDGFD-
-
-
-
1Loss-
PDGFRA-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDK1-
-
-
-
1Loss-
PDK2-
-
-
-
6Amp-
PDLIM2-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDS5B-
-
-
-
1Loss-
PDXK-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PELP1-
-
-
-
9Amp-
PEPD-
-
-
-
3Gain-
PFKL-
-
-
-
3Gain-
PFN1-
-
-
-
8Amp-
PGBD4-
-
-
-
1Loss-
PGLS-
-
-
-
3Gain-
PGLYRP2-
-
-
-
5Amp-
PGPEP1-
-
-
-
3Gain-
PGR-
-
-
-
1Loss-
PGS1-
-
-
-
14Amp-
PHACTR3-
-
-
-
1Loss-
PHB-
-
-
-
9Amp-
PHF11-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHLPP1-
-
-
-
3Gain-
PHOSPHO1-
-
-
-
9Amp-
PHOSPHO2-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PIAS2-
-
-
-
3Gain-
PICALM-
-
-
-
1Loss-
PIEZO2-
-
-
-
3Gain-
PIGN-
-
-
-
3Gain-
PIGP-
-
-
-
3Gain-
PIH1D1-
-
-
-
10Amp-
PIH1D2-
-
-
-
1Loss-
PIK3C3-
-
-
-
3Gain-
PIK3R2-
-
-
-
3Gain-
PIMREG-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PITPNA-
-
-
-
1Loss-
PITPNC1-
-
-
-
3Gain-
PITPNM3-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PIWIL4-
-
-
-
1Loss-
PJVK-
-
-
-
1Loss-
PKN1-
-
-
-
4Gain-
PKNOX1-
-
-
-
3Gain-
PKNOX2-
-
-
-
1Loss-
PKP4-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2R1-
-
-
-
1Loss-
PLAGL1p.Q82P
Missense
SNP
0.328
2--
PLCB3-
-
-
-
1Loss-
PLD2-
-
-
-
8Amp-
PLD3-
-
-
-
3Gain-
PLEKHA2-
-
-
-
3Gain-
PLEKHA3-
-
-
-
1Loss-
PLEKHB2-
-
-
-
1Loss-
PLEKHF1-
-
-
-
3Gain-
PLET1-
-
-
-
1Loss-
PLOD1p.V403I
Missense
SNP
0.490
2--
PLPBP-
-
-
-
4Gain-
PLPP5-
-
-
-
4Gain-
PLSCR3-
-
-
-
1Loss-
PLVAP-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PMAIP1-
-
-
-
3Gain-
PMEPA1-
-
-
-
1Loss-
PNKP-
-
-
-
10Amp-
PNOC-
-
-
-
1Loss-
PNPO-
-
-
-
5Amp-
POC1A-
-
-
-
1Loss-
PODNL1-
-
-
-
4Gain-
PODXL-
-
-
-
3Gain-
POFUT2-
-
-
-
3Gain-
POLA2-
-
-
-
1Loss-
POLD1-
-
-
-
6Amp-
POLG2-
-
-
-
5Amp-
POLI-
-
-
-
3Gain-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2D-
-
-
-
1Loss-
POLR2G-
-
-
-
1Loss-
POLR2I-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POP4-
-
-
-
3Gain-
POSTN-
-
-
-
1Loss-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POTEB3-
-
-
-
1Loss-
POTEC-
-
-
-
3Gain-
POTED-
-
-
-
3Gain-
POTEE-
-
-
-
1Loss-
POTEF-
-
-
-
1Loss-
POTEI-
-
-
-
1Loss-
POTEJ-
-
-
-
1Loss-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
PP2D1-
-
-
-
3Gain-
PPAT-
-
-
-
1Loss-
PPDPF-
-
-
-
6Amp-
PPIG-
-
-
-
1Loss-
PPM1D-
-
-
-
6Amp-
PPM1E-
-
-
-
6Amp-
PPM1M-
-
-
-
1Loss-
PPP1R12C-
-
-
-
1Loss-
PPP1R14B-
-
-
-
1Loss-
PPP1R27-
-
-
-
5Amp-
PPP1R3B-
-
-
-
1Loss-
PPP1R3D-
-
-
-
1Loss-
PPP1R9B-
-
-
-
6Amp-
PPP2CB-
-
-
-
5Amp-
PPP2R1A-
-
-
-
12AmpPPP2R1A--FPR1
PPP2R1B-
-
-
-
1Loss-
PPP2R5B-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP4R1-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP6R1-
-
-
-
1Loss-
PQLC1-
-
-
-
3Gain-
PRAC1-
-
-
-
7Amp-
PRAC2-
-
-
-
7Amp-
PRAG1-
-
-
-
1Loss-
PRCD-
-
-
-
5Amp-
PRCP-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM15p.D1048Y
Missense
SNP
0.694
3Gain-
PRDM16-
-
-
-
1Loss-
PRDX2-
-
-
-
4Gain-
PRDX5-
-
-
-
1Loss-
PRELID3A-
-
-
-
3Gain-
PRELID3B-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKACA-
-
-
-
4Gain-
PRKAR1A-
-
-
-
3Gain-
PRKCA-
-
-
-
5Amp-
PRKCD-
-
-
-
1Loss-
PRKCG-
-
-
-
8Amp-
PRKRA-
-
-
-
1Loss-
PRMT1-
-
-
-
10Amp-
PRMT2-
-
-
-
3Gain-
PROC-
-
-
-
1Loss-
PRODH2-
-
-
-
3Gain-
PROK2-
-
-
-
1Loss-
PROSER3-
-
-
-
3Gain-
PROZ-
-
-
-
4Gain-
PRPF31-
-
-
-
10Amp-
PRPF40A-
-
-
-
1Loss-
PRPF6-
-
-
-
8Amp-
PRPF8-
-
-
-
1Loss-
PRPSAP1-
-
-
-
5Amp-
PRR11-
-
-
-
6Amp-
PRR12-
-
-
-
10Amp-
PRR15L-
-
-
-
7Amp-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR29-
-
-
-
5Amp-
PRRG2-
-
-
-
10Amp-
PRRT4-
-
-
-
3Gain-
PRSS55-
-
-
-
1Loss-
PRSS58-
-
-
-
1Loss-
PRX-
-
-
-
3Gain-
PRXL2B-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSENEN-
-
-
-
3Gain-
PSMA7-
-
-
-
6Amp-
PSMA8-
-
-
-
3Gain-
PSMB4p.X116_splice
Splice_Site
SNP
0.427
2--
PSMB6-
-
-
-
8Amp-
PSMC5-
-
-
-
6Amp-
PSMD12-
-
-
-
3Gain-
PSMD14-
-
-
-
1Loss-
PSMD6-
-
-
-
1Loss-
PSMG1-
-
-
-
3Gain-
PSMG2-
-
-
-
3Gain-
PSPC1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
3Gain-
PTGDR2p.A220V
Missense
SNP
0.438
2--
PTGER1-
-
-
-
4Gain-
PTH2-
-
-
-
10Amp-
PTK2B-
-
-
-
1Loss-
PTK6-
-
-
-
6Amp-
PTN-
-
-
-
3Gain-
PTOV1-
-
-
-
10Amp-
PTPN1-
-
-
-
1Loss-
PTPN18-
-
-
-
1Loss-
PTPN2-
-
-
-
3Gain-
PTPRG-
-
-
-
1Loss-
PTPRH-
-
-
-
1Loss-
PTPRM-
-
-
-
3Gain-
PTPRN2-
-
-
-
1Loss-
PTRH2-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PTTG1IP-
-
-
-
3Gain-
PURG-
-
-
-
5Amp-
PUS3-
-
-
-
1Loss-
PWP2-
-
-
-
3Gain-
PXK-
-
-
-
1Loss-
PYCR1-
-
-
-
5Amp-
PYGB-
-
-
-
1Loss-
PYGM-
-
-
-
1Loss-
QRICH2-
-
-
-
5Amp-
R3HCC1-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
4Gain-
RAB12-
-
-
-
3Gain-
RAB19-
-
-
-
5Amp-
RAB20-
-
-
-
4Gain-
RAB22A-
-
-
-
1Loss-
RAB27B-
-
-
-
3Gain-
RAB30-
-
-
-
1Loss-
RAB31-
-
-
-
3Gain-
RAB37-
-
-
-
8Amp-
RAB39A-
-
-
-
1Loss-
RAB3A-
-
-
-
3Gain-
RAB3GAP1-
-
-
-
1Loss-
RAB3IL1-
-
-
-
1Loss-
RAB40B-
-
-
-
7Amp-
RAB5A-
-
-
-
3Gain-
RAB6C-
-
-
-
1Loss-
RAB6D-
-
-
-
1Loss-
RAB8A-
-
-
-
3Gain-
RABEP1-
-
-
-
7Amp-
RAC3-
-
-
-
5Amp-
RAD23A-
-
-
-
4Gain-
RAD51C-
-
-
-
6Amp-
RAD54L2-
-
-
-
1Loss-
RAE1-
-
-
-
1Loss-
RALBP1-
-
-
-
3Gain-
RAP1GAP2-
-
-
-
1Loss-
RAPGEF4-
-
-
-
1Loss-
RARRES2-
-
-
-
3Gain-
RARRES3-
-
-
-
1Loss-
RASA3-
-
-
-
5Amp-
RASAL3-
-
-
-
5Amp-
RASGRP2-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RAX-
-
-
-
3Gain-
RB1-
-
-
-
1Loss-
RBBP8-
-
-
-
3Gain-
RBBP8NL-
-
-
-
6Amp-
RBFA-
-
-
-
3Gain-
RBFOX3-
-
-
-
12Amp-
RBM11-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM28-
-
-
-
3Gain-
RBM38-
-
-
-
1Loss-
RBM42-
-
-
-
3Gain-
RBM43-
-
-
-
1Loss-
RBM45-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBMS1-
-
-
-
1Loss-
RBPMS-
-
-
-
5Amp-
RCAN1-
-
-
-
3Gain-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCN3-
-
-
-
10Amp-
RCOR2-
-
-
-
1Loss-
RDH13-
-
-
-
1Loss-
RDX-
-
-
-
1Loss-
RECQL5-
-
-
-
6Amp-
REEP4-
-
-
-
1Loss-
RELA-
-
-
-
1Loss-
RELCH-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REPS2p.R250W
Missense
SNP
0.385
NDND-
REST-
-
-
-
1Loss-
REX1BD-
-
-
-
3Gain-
REXO2-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFNG-
-
-
-
5Amp-
RFPL4A-
-
-
-
8Amp-
RFPL4AL1-
-
-
-
8Amp-
RFT1-
-
-
-
1Loss-
RFX1-
-
-
-
4Gain-
RFXANK-
-
-
-
3Gain-
RFXAP-
-
-
-
1Loss-
RGAG1p.H1193Y
Missense
SNP
0.495
NDND-
RGS19-
-
-
-
7Amp-
RGS9-
-
-
-
3Gain-
RGS9BP-
-
-
-
3Gain-
RHBDF2-
-
-
-
5Amp-
RHOBTB2-
-
-
-
1Loss-
RHPN2-
-
-
-
3Gain-
RIF1-
-
-
-
1Loss-
RILP-
-
-
-
1Loss-
RIOK3-
-
-
-
3Gain-
RIPK4-
-
-
-
3Gain-
RIPOR3-
-
-
-
1Loss-
RIPPLY3-
-
-
-
3Gain-
RIT2-
-
-
-
3Gain-
RLN3-
-
-
-
4Gain-
RMC1-
-
-
-
3Gain-
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RNASEH2A-
-
-
-
4Gain-
RNASEH2B-
-
-
-
1Loss-
RNASEH2C-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RND3-
-
-
-
1Loss-
RNF113B-
-
-
-
3Gain-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
3Gain-
RNF138-
-
-
-
3Gain-
RNF152-
-
-
-
3Gain-
RNF157-
-
-
-
5Amp-
RNF165-
-
-
-
3Gain-
RNF167-
-
-
-
8Amp-
RNF207-
-
-
-
1Loss-
RNF213-
-
-
-
8AmpRNF213--MSI2
RNF213--B3GNTL1
RNF214-
-
-
-
1Loss-
RNF225-
-
-
-
9Amp-
RNF26-
-
-
-
1Loss-
RNF32-
-
-
-
1Loss-
RNF43-
-
-
-
5Amp-
RNFT1-
-
-
-
3Gain-
RNMT-
-
-
-
3Gain-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROM1-
-
-
-
1Loss-
RP1L1-
-
-
-
1Loss-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
7Amp-
RPH3AL-
-
-
-
1Loss-
RPL13A-
-
-
-
10Amp-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL18A-
-
-
-
3Gain-
RPL22-
-
-
-
1Loss-
RPL28-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL38-
-
-
-
8Amp-
RPP14-
-
-
-
1Loss-
RPRD1A-
-
-
-
3Gain-
RPRM-
-
-
-
1Loss-
RPS11-
-
-
-
10Amp-
RPS21-
-
-
-
6Amp-
RPS25-
-
-
-
1Loss-
RPS5-
-
-
-
9Amp-
RPS6KA4-
-
-
-
1Loss-
RPS6KB1-
-
-
-
3Gain-
RPS9-
-
-
-
10Amp-
RPTOR-
-
-
-
3Gain-
RPUSD4-
-
-
-
1Loss-
RRAS-
-
-
-
10Amp-
RRP1-
-
-
-
3Gain-
RRP1B-
-
-
-
3Gain-
RRP9-
-
-
-
1Loss-
RSAD1-
-
-
-
8Amp-
RSPH1-
-
-
-
3Gain-
RTBDN-
-
-
-
4Gain-
RTEL1-
-
-
-
7Amp-
RTEL1-TNFRSF6B-
-
-
-
7Amp-
RTF2-
-
-
-
1Loss-
RTN3-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTTN-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUNX1-
-
-
-
3Gain-
RWDD2B-
-
-
-
3Gain-
RWDD4-
-
-
-
1Loss-
RXFP2-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYR3-
-
-
-
1Loss-
S100B-
-
-
-
3Gain-
SAC3D1-
-
-
-
1Loss-
SALL3-
-
-
-
3Gain-
SAMD1-
-
-
-
4Gain-
SAMD10-
-
-
-
8Amp-
SAMD14-
-
-
-
6Amp-
SAMSN1-
-
-
-
3Gain-
SAP130-
-
-
-
1Loss-
SAP18-
-
-
-
1Loss-
SAP30-
-
-
-
3Gain-
SAP30BP-
-
-
-
6Amp-
SARAF-
-
-
-
5Amp-
SAT2-
-
-
-
1Loss-
SBK2-
-
-
-
1Loss-
SBK3-
-
-
-
1Loss-
SBSN-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAF1-
-
-
-
10Amp-
SCAF11p.V53G
Missense
SNP
0.311
2--
SCAF4-
-
-
-
3Gain-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1A1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGB2B2-
-
-
-
3Gain-
SCIMP-
-
-
-
7Amp-
SCN1A-
-
-
-
1Loss-
SCN2A-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3A-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4A-
-
-
-
5Amp-
SCN4B-
-
-
-
1Loss-
SCN7A-
-
-
-
1Loss-
SCN9A-
-
-
-
1Loss-
SCPEP1-
-
-
-
8Amp-
SCRG1-
-
-
-
3Gain-
SCRN2-
-
-
-
7Amp-
SCRN3-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SDHAF1-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK2-
-
-
-
8Amp-
SEC11C-
-
-
-
3Gain-
SEC14L1-
-
-
-
14Amp-
SECTM1-
-
-
-
7Amp-
SEH1L-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SEPT4-
-
-
-
5Amp-
SEPT9-
-
-
-
14Amp-
SERP2-
-
-
-
1Loss-
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12-
-
-
-
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTAD1p.D22H
p.E11K
Missense
Missense
SNP
SNP
0.346
0.311
3Gain-
SERTM1-
-
-
-
1Loss-
SESN3-
-
-
-
1Loss-
SESTD1-
-
-
-
1Loss-
SETBP1-
-
-
-
3Gain-
SETD4-
-
-
-
3Gain-
SETDB2p.G633A
Missense
SNP
1.000
1Loss-
SF1-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFT2D3-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SGCA-
-
-
-
6Amp-
SGCB-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGO1-
-
-
-
3Gain-
SGPL1p.X304_splice
Splice_Site
SNP
0.638
2--
SGSH-
-
-
-
8Amp-
SGSM2-
-
-
-
1Loss-
SGSM3p.E160A
Missense
SNP
0.539
2--
SH2D4A-
-
-
-
1Loss-
SH3BGR-
-
-
-
3Gain-
SHANK1-
-
-
-
6Amp-
SHBG-
-
-
-
1Loss-
SHISA7-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIDT2-
-
-
-
1Loss-
SIGLEC10-
-
-
-
6Amp-
SIGLEC11-
-
-
-
12Amp-
SIGLEC12-
-
-
-
6Amp-
SIGLEC14-
-
-
-
6Amp-
SIGLEC15-
-
-
-
3Gain-
SIGLEC5-
-
-
-
6Amp-
SIGLEC6-
-
-
-
6Amp-
SIGLEC7-
-
-
-
6Amp-
SIGLEC8-
-
-
-
6Amp-
SIGLEC9-
-
-
-
6Amp-
SIGLECL1-
-
-
-
6Amp-
SIK1-
-
-
-
3Gain-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIM2-
-
-
-
3Gain-
SIN3B-
-
-
-
3Gain-
SIPA1-
-
-
-
1Loss-
SIRT7-
-
-
-
5Amp-
SKA1-
-
-
-
3Gain-
SKA2-
-
-
-
6Amp-
SKA3-
-
-
-
1Loss-
SKAP1-
-
-
-
5Amp-
SKOR2-
-
-
-
3Gain-
SLC10A2-
-
-
-
5Amp-
SLC12A6-
-
-
-
1Loss-
SLC13A4-
-
-
-
4Gain-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC15A1-
-
-
-
3Gain-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A3-
-
-
-
7Amp-
SLC16A5-
-
-
-
8Amp-
SLC16A6-
-
-
-
3Gain-
SLC17A7-
-
-
-
10Amp-
SLC17A9-
-
-
-
5Amp-
SLC18A1-
-
-
-
1Loss-
SLC19A1-
-
-
-
3Gain-
SLC1A6-
-
-
-
4Gain-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC25A10-
-
-
-
5Amp-
SLC25A11-
-
-
-
8Amp-
SLC25A12-
-
-
-
1Loss-
SLC25A19-
-
-
-
8Amp-
SLC25A26-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A42-
-
-
-
3Gain-
SLC25A45-
-
-
-
1Loss-
SLC25A52-
-
-
-
3Gain-
SLC26A11-
-
-
-
8Amp-
SLC27A1-
-
-
-
3Gain-
SLC27A5-
-
-
-
6Amp-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
8Amp-
SLC35B1-
-
-
-
9Amp-
SLC35B4-
-
-
-
3Gain-
SLC35E1-
-
-
-
3Gain-
SLC35F2-
-
-
-
1Loss-
SLC35G4-
-
-
-
3Gain-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A1-
-
-
-
3Gain-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC37A4-
-
-
-
1Loss-
SLC38A10-
-
-
-
3Gain-
SLC38A11-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC39A11-
-
-
-
2-MRPL58--SLC39A11
SLC39A14-
-
-
-
1Loss-
SLC39A6-
-
-
-
3Gain-
SLC3A2-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC4A10-
-
-
-
1Loss-
SLC52A1-
-
-
-
8Amp-
SLC5A3-
-
-
-
3Gain-
SLC5A5-
-
-
-
3Gain-
SLC6A16-
-
-
-
8Amp-
SLC7A10-
-
-
-
3Gain-
SLC7A2-
-
-
-
1Loss-
SLC7A9-
-
-
-
3Gain-
SLC9A3R1-
-
-
-
8Amp-
SLCO4A1-
-
-
-
5Amp-
SLMAP-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD7-
-
-
-
3Gain-
SMAD9-
-
-
-
1Loss-
SMARCD2-
-
-
-
6Amp-
SMCHD1-
-
-
-
3Gain-
SMCO4-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMG8-
-
-
-
6Amp-
SMIM1-
-
-
-
1Loss-
SMIM11A-
-
-
-
3Gain-
SMIM18-
-
-
-
5Amp-
SMIM2-
-
-
-
1Loss-
SMIM21-
-
-
-
3Gain-
SMIM4-
-
-
-
1Loss-
SMIM5-
-
-
-
6Amp-
SMIM6-
-
-
-
6Amp-
SMIM7-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMPD4-
-
-
-
1Loss-
SMTNL2-
-
-
-
9Amp-
SMURF2-
-
-
-
5Amp-
SMYD4-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNF8-
-
-
-
5Amp-
SNRPD1-
-
-
-
3Gain-
SNRPN-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNX11-
-
-
-
5Amp-
SNX15-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX32-
-
-
-
1Loss-
SOCS3-
-
-
-
14Amp-
SOCS6-
-
-
-
3Gain-
SOD1-
-
-
-
3Gain-
SOHLH2-
-
-
-
1Loss-
SON-
-
-
-
3Gain-
SORBS2-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORCS2p.C775*
Nonsense
SNP
0.452
2--
SORL1-
-
-
-
1Loss-
SOX1-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX18-
-
-
-
7Amp-
SOX7-
-
-
-
1Loss-
SP2-
-
-
-
5Amp-
SP3-
-
-
-
1Loss-
SP5-
-
-
-
1Loss-
SP6-
-
-
-
7Amp-
SP9-
-
-
-
1Loss-
SPA17-
-
-
-
1Loss-
SPACA7-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG17p.V1824G
Missense
SNP
0.455
2--
SPAG7-
-
-
-
8Amp-
SPAG9-
-
-
-
8Amp-
SPART-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA18-
-
-
-
1Loss-
SPATA19-
-
-
-
1Loss-
SPATA20-
-
-
-
8Amp-
SPATA22-
-
-
-
1Loss-
SPATA4-
-
-
-
1Loss-
SPATC1L-
-
-
-
3Gain-
SPC25-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDYC-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPHK1-
-
-
-
5Amp-
SPIB-
-
-
-
6Amp-
SPINDOC-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPIRE1-
-
-
-
3Gain-
SPNS2-
-
-
-
9Amp-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
1Loss-
SPOCK3-
-
-
-
1Loss-
SPOP-
-
-
-
9Amp-
SPRYD7-
-
-
-
1Loss-
SRA1-
-
-
-
3Gain-
SRD5A3-
-
-
-
1Loss-
SRMS-
-
-
-
6Amp-
SRP68-
-
-
-
5Amp-
SRP72-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRSF2-
-
-
-
10Amp-
SRSF8-
-
-
-
1Loss-
SS18-
-
-
-
3Gain-
SS18L1-
-
-
-
6Amp-
SSB-
-
-
-
1Loss-
SSBP4-
-
-
-
3Gain-
SSC5D-
-
-
-
1Loss-
SSMEM1-
-
-
-
3Gain-
SSSCA1-
-
-
-
1Loss-
SSTR2p.T354M
Missense
SNP
0.681
8Amp-
SSTR4-
-
-
-
3Gain-
ST14-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST6GALNAC1-
-
-
-
7Amp-
ST6GALNAC2-
-
-
-
5Amp-
ST8SIA3-
-
-
-
3Gain-
ST8SIA5-
-
-
-
3Gain-
STAB1-
-
-
-
1Loss-
STAB2p.N330T
Missense
SNP
0.333
2--
STAM2-
-
-
-
1Loss-
STAR-
-
-
-
4Gain-
STARD13-
-
-
-
1Loss-
STARD6-
-
-
-
3Gain-
STC1-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STIP1-
-
-
-
1Loss-
STK24-
-
-
-
3Gain-
STK39-
-
-
-
1Loss-
STMN3-
-
-
-
7Amp-
STMN4-
-
-
-
1Loss-
STMP1-
-
-
-
4Gain-
STOX2-
-
-
-
1Loss-
STRA8-
-
-
-
4Gain-
STRADA-
-
-
-
6Amp-
STRIP2-
-
-
-
3Gain-
STT3A-
-
-
-
1Loss-
STX10-
-
-
-
4Gain-
STX16-
-
-
-
1Loss-
STX16-NPEPL1-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STXBP4-
-
-
-
8AmpMSI2--STXBP4
SUCLA2-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUGP1-
-
-
-
3Gain-
SUGP2-
-
-
-
3Gain-
SUGT1-
-
-
-
1Loss-
SUMO2-
-
-
-
8Amp-
SUMO3-
-
-
-
3Gain-
SUPT20H-
-
-
-
1Loss-
SVOPL-
-
-
-
5Amp-
SWAP70p.E507A
Missense
SNP
0.475
2--
SYCE2-
-
-
-
4Gain-
SYCP2-
-
-
-
1Loss-
SYDE1-
-
-
-
4Gain-
SYNDIG1-
-
-
-
1Loss-
SYNE4-
-
-
-
3Gain-
SYNGR2-
-
-
-
14Amp-
SYNJ1-
-
-
-
3Gain-
SYNPO2p.E416G
Missense
SNP
0.552
2--
SYNPR-
-
-
-
1Loss-
SYT3-
-
-
-
6Amp-
SYT4-
-
-
-
3Gain-
SYT5-
-
-
-
1Loss-
SYT7-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
SYVN1-
-
-
-
1Loss-
TAC4-
-
-
-
6Amp-
TACC1-
-
-
-
3Gain-
TACO1-
-
-
-
6Amp-
TAF1D-
-
-
-
1Loss-
TAF4-
-
-
-
1Loss-
TAF4B-
-
-
-
3Gain-
TAF6L-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TANC1-
-
-
-
1Loss-
TANC2-
-
-
-
6Amp-
TANK-
-
-
-
1Loss-
TARM1-
-
-
-
10Amp-
TAS2R38-
-
-
-
1Loss-
TAS2R39-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D16-
-
-
-
10Amp-
TBC1D17-
-
-
-
10Amp-
TBCB-
-
-
-
3Gain-
TBCD-
-
-
-
7AmpTBCD--CEP112
TBCEL-
-
-
-
1Loss-
TBKBP1-
-
-
-
4Gain-
TBR1-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX2-
-
-
-
6Amp-
TBX21-
-
-
-
7Amp-
TBX4-
-
-
-
6Amp-
TBXAS1-
-
-
-
3Gain-
TCEA2-
-
-
-
7Amp-
TCF4-
-
-
-
3Gain-
TCFL5-
-
-
-
5Amp-
TCP10L-
-
-
-
3Gain-
TDRD12-
-
-
-
3Gain-
TEAD2-
-
-
-
10Amp-
TECR-
-
-
-
4Gain-
TECTA-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEN1-
-
-
-
5Amp-
TEN1-CDK3-
-
-
-
5Amp-
TENM3-
-
-
-
1Loss-
TEPSIN-
-
-
-
3Gain-
TEX12-
-
-
-
1Loss-
TEX14-
-
-
-
5Amp-
TEX15p.E1162D
Missense
SNP
0.209
5Amp-
TEX19-
-
-
-
7Amp-
TEX2-
-
-
-
5Amp-
TEX264-
-
-
-
1Loss-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TFAP2C-
-
-
-
1Loss-
TFDP1-
-
-
-
3Gain-
TFF1-
-
-
-
3Gain-
TFF2-
-
-
-
3Gain-
TFF3-
-
-
-
3Gain-
TFPT-
-
-
-
10Amp-
TGIF1-
-
-
-
3Gain-
THAP8-
-
-
-
3Gain-
THBD-
-
-
-
3Gain-
THEGL-
-
-
-
1Loss-
THOC1-
-
-
-
3Gain-
THOC7-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAM1-
-
-
-
3Gain-
TIGD3-
-
-
-
1Loss-
TIMM21-
-
-
-
3Gain-
TIMM22-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TIMP2-
-
-
-
10Amp-
TIRAP-
-
-
-
1Loss-
TJP1-
-
-
-
1Loss-
TK1-
-
-
-
14Amp-
TKT-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLK1-
-
-
-
1Loss-
TLK2-
-
-
-
6Amp-
TLR3-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TM2D2-
-
-
-
3Gain-
TM4SF5-
-
-
-
9Amp-
TM6SF2-
-
-
-
3Gain-
TM7SF2-
-
-
-
1Loss-
TM9SF2-
-
-
-
3Gain-
TMC4-
-
-
-
10Amp-
TMC6-
-
-
-
14Amp-
TMC8-
-
-
-
14Amp-
TMCO3-
-
-
-
3Gain-
TMEM100-
-
-
-
5Amp-
TMEM102-
-
-
-
1Loss-
TMEM104-
-
-
-
11Amp-
TMEM105-
-
-
-
5Amp-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM123-
-
-
-
1Loss-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
4Gain-
TMEM147-
-
-
-
3Gain-
TMEM150B-
-
-
-
1Loss-
TMEM161A-
-
-
-
3Gain-
TMEM163-
-
-
-
1Loss-
TMEM165-
-
-
-
1Loss-
TMEM178B-
-
-
-
3Gain-
TMEM179B-
-
-
-
1Loss-
TMEM189-
-
-
-
1Loss-
TMEM190-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM213-
-
-
-
5Amp-
TMEM218-
-
-
-
1Loss-
TMEM221-
-
-
-
3Gain-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM235-
-
-
-
14Amp-
TMEM238-
-
-
-
1Loss-
TMEM241-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM255B-
-
-
-
3Gain-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM38A-
-
-
-
3Gain-
TMEM45B-
-
-
-
1Loss-
TMEM50B-
-
-
-
3Gain-
TMEM59L-
-
-
-
3Gain-
TMEM86B-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM92-
-
-
-
8Amp-
TMEM94-
-
-
-
6Amp-
TMEM95-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS15-
-
-
-
3Gain-
TMPRSS2-
-
-
-
3Gain-
TMPRSS3-
-
-
-
3Gain-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMTC4-
-
-
-
3Gain-
TMX3-
-
-
-
3Gain-
TNFAIP6-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
7Amp-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
3Gain-
TNK1-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNNI3-
-
-
-
1Loss-
TNNT1-
-
-
-
1Loss-
TNPO2-
-
-
-
5Amp-
TNPO3-
-
-
-
3Gain-
TNRC6C-
-
-
-
14Amp-
TOB1-
-
-
-
8Amp-
TOM1L1-
-
-
-
8Amp-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP73-
-
-
-
1Loss-
TPD52L2-
-
-
-
8Amp-
TPGS2-
-
-
-
3Gain-
TPM4-
-
-
-
3Gain-
TPP2-
-
-
-
3Gain-
TPRG1L-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
3Gain-
TRAPPC11-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
3Gain-
TRAPPC4-
-
-
-
1Loss-
TRAPPC8-
-
-
-
3Gain-
TRARG1-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TRIM13-
-
-
-
1Loss-
TRIM24-
-
-
-
5Amp-
TRIM25-
-
-
-
8Amp-
TRIM28-
-
-
-
6Amp-
TRIM29-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM37-
-
-
-
6AmpXYLT2--TRIM37
TRIM47-
-
-
-
6Amp-
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM64-
-
-
-
1Loss-
TRIM65-
-
-
-
6Amp-
TRIM77-
-
-
-
1Loss-
TRIR-
-
-
-
5Amp-
TRMT1-
-
-
-
4Gain-
TRMT112-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRPC6-
-
-
-
1Loss-
TRPM1-
-
-
-
1Loss-
TRPM2-
-
-
-
3Gain-
TRPT1-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSEN34-
-
-
-
10Amp-
TSEN54-
-
-
-
6Amp-
TSGA13-
-
-
-
3GainPAXIP1--TSGA13
TSHZ1-
-
-
-
3Gain-
TSHZ3-
-
-
-
3Gain-
TSKS-
-
-
-
10Amp-
TSPAN10-
-
-
-
5Amp-
TSPAN33-
-
-
-
3Gain-
TSPEAR-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSSK6-
-
-
-
3Gain-
TTC12-
-
-
-
1Loss-
TTC21B-
-
-
-
1Loss-
TTC25-
-
-
-
7Amp-
TTC26-
-
-
-
5Amp-
TTC3-
-
-
-
3Gain-
TTC30A-
-
-
-
1Loss-
TTC30B-
-
-
-
1Loss-
TTC34-
-
-
-
1Loss-
TTC36-
-
-
-
1Loss-
TTC39C-
-
-
-
3Gain-
TTC9B-
-
-
-
3Gain-
TTC9C-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTLL6-
-
-
-
7Amp-
TTNp.L7233*
Frame_Shift_Del
DEL
0.962
1Loss-
TTR-
-
-
-
3Gain-
TTYH1-
-
-
-
7Amp-
TTYH2-
-
-
-
8Amp-
TUBA3C-
-
-
-
1Loss-
TUBA3D-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBB1-
-
-
-
1Loss-
TUBB6-
-
-
-
3Gain-
TUBB8P12-
-
-
-
3Gain-
TUBD1-
-
-
-
3Gain-
TUBGCP3-
-
-
-
3Gain-
TUBGCP5-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TUT1-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1p.Y177*
Nonsense
SNP
0.466
2--
TWSG1-
-
-
-
3Gain-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
3Gain-
TXNL1-
-
-
-
3Gain-
TXNL4A-
-
-
-
3Gain-
TYMS-
-
-
-
3Gain-
TYR-
-
-
-
1Loss-
TYROBP-
-
-
-
3Gain-
U2AF1-
-
-
-
3Gain-
U2AF1L4-
-
-
-
3Gain-
U2AF2-
-
-
-
1Loss-
UBA2-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
3Gain-
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
3Gain-
UBALD2-
-
-
-
5Amp-
UBASH3A-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2M-
-
-
-
6Amp-
UBE2O-
-
-
-
5Amp-
UBE2S-
-
-
-
1Loss-
UBE2Z-
-
-
-
7Amp-
UBE3A-
-
-
-
1Loss-
UBE3C-
-
-
-
1Loss-
UBE4A-
-
-
-
1Loss-
UBN2-
-
-
-
5Amp-
UBR3-
-
-
-
1Loss-
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UBXN8-
-
-
-
5Amp-
UCKL1-
-
-
-
8Amp-
UFSP2-
-
-
-
1Loss-
UGGT1-
-
-
-
1Loss-
UMODL1-
-
-
-
3Gain-
UNC13A-
-
-
-
3Gain-
UNC13D-
-
-
-
3Gain-
UNC5D-
-
-
-
1Loss-
UNK-
-
-
-
3Gain-
UPF1-
-
-
-
3Gain-
UPF3A-
-
-
-
5Amp-
UPK1A-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UPP2-
-
-
-
1Loss-
UQCC3-
-
-
-
1Loss-
UQCRFS1-
-
-
-
3Gain-
URB1-
-
-
-
3Gain-
URI1-
-
-
-
3Gain-
USE1-
-
-
-
3Gain-
USF2-
-
-
-
3Gain-
USH1G-
-
-
-
11Amp-
USHBP1-
-
-
-
3Gain-
USP12-
-
-
-
2-USP12--LINC02340
USP14-
-
-
-
3Gain-
USP16-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L11-
-
-
-
3Gain-
USP17L12-
-
-
-
3Gain-
USP17L13-
-
-
-
3Gain-
USP17L15-
-
-
-
3Gain-
USP17L17-
-
-
-
3Gain-
USP17L18-
-
-
-
3Gain-
USP17L19-
-
-
-
3Gain-
USP17L2-
-
-
-
1Loss-
USP17L20-
-
-
-
3Gain-
USP17L21-
-
-
-
3Gain-
USP17L22-
-
-
-
3Gain-
USP17L23-
-
-
-
3Gain-
USP17L24-
-
-
-
3Gain-
USP17L25-
-
-
-
3Gain-
USP17L26-
-
-
-
3Gain-
USP17L27-
-
-
-
3Gain-
USP17L28-
-
-
-
3Gain-
USP17L29-
-
-
-
3Gain-
USP17L3-
-
-
-
1Loss-
USP17L30-
-
-
-
3Gain-
USP17L4-
-
-
-
1Loss-
USP17L5-
-
-
-
3Gain-
USP17L7-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP25-
-
-
-
3Gain-
USP28-
-
-
-
1Loss-
USP29-
-
-
-
3Gain-
USP32-
-
-
-
3Gain-
USP36p.S610A
Missense
SNP
0.103
10Amp-
USP6-
-
-
-
8Amp-
UTP14C-
-
-
-
1Loss-
UTP18-
-
-
-
13Amp-
VAPA-
-
-
-
3Gain-
VAPB-
-
-
-
1Loss-
VEGFB-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VMO1-
-
-
-
9Amp-
VMP1-
-
-
-
3Gain-
VN1R1-
-
-
-
12Amp-
VN1R2-
-
-
-
9Amp-
VN1R4-
-
-
-
9Amp-
VPS11-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS26C-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS4B-
-
-
-
3Gain-
VPS51-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VRK3-
-
-
-
12Amp-
VSIG10L-
-
-
-
6Amp-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM1-
-
-
-
8Amp-
VSTM2B-
-
-
-
3Gain-
VSTM5-
-
-
-
1Loss-
VSX1-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WDFY2-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR33-
-
-
-
1Loss-
WDR4-
-
-
-
3Gain-
WDR45Bp.Y317Lfs*26
Frame_Shift_Ins
INS
0.110
7Amp-
WDR60-
-
-
-
1Loss-
WDR62-
-
-
-
3Gain-
WDR7-
-
-
-
3Gain-
WDR74-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR83-
-
-
-
5Amp-
WDR83OS-
-
-
-
5Amp-
WDR88-
-
-
-
3Gain-
WDR91-
-
-
-
4Gain-
WDSUB1-
-
-
-
1Loss-
WFIKKN2-
-
-
-
8Amp-
WIPF1-
-
-
-
1Loss-
WIPI1-
-
-
-
3Gain-
WIZ-
-
-
-
5Amp-
WNT2-
-
-
-
3Gain-
WNT5A-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
1Loss-
WRB-
-
-
-
3Gain-
WRB-SH3BGR-
-
-
-
3Gain-
WRN-
-
-
-
5Amp-
WSCD1-
-
-
-
1Loss-
WTIP-
-
-
-
3Gain-
WWC2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XIRP2-
-
-
-
1Loss-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XYLT2-
-
-
-
8AmpXYLT2--TRIM37
YAP1-
-
-
-
1Loss-
YBEY-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YES1-
-
-
-
3Gain-
YJEFN3-
-
-
-
3Gain-
YPEL2-
-
-
-
6Amp-
YTHDF1-
-
-
-
6Amp-
YWHAE-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZACN-
-
-
-
5Amp-
ZADH2-
-
-
-
3Gain-
ZAR1L-
-
-
-
1Loss-
ZBED6CL-
-
-
-
3Gain-
ZBP1-
-
-
-
1Loss-
ZBTB14-
-
-
-
3Gain-
ZBTB16-
-
-
-
1Loss-
ZBTB21-
-
-
-
3Gain-
ZBTB3-
-
-
-
1Loss-
ZBTB32-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB45-
-
-
-
6Amp-
ZBTB46-
-
-
-
8Amp-
ZBTB7C-
-
-
-
3Gain-
ZC3H12C-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
5Amp-
ZC3HAV1L-
-
-
-
5Amp-
ZC3HC1-
-
-
-
3Gain-
ZCCHC2-
-
-
-
3Gain-
ZDHHC2-
-
-
-
1Loss-
ZDHHC20-
-
-
-
1Loss-
ZEB2-
-
-
-
1Loss-
ZFP14-
-
-
-
3Gain-
ZFP3-
-
-
-
8Amp-
ZFP82-
-
-
-
3Gain-
ZFPL1-
-
-
-
1Loss-
ZGPAT-
-
-
-
8Amp-
ZIC2-
-
-
-
3Gain-
ZIC5-
-
-
-
3Gain-
ZIK1-
-
-
-
12Amp-
ZIM3-
-
-
-
3Gain-
ZMYM2-
-
-
-
1Loss-
ZMYM5-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND15-
-
-
-
9Amp-
ZNF100-
-
-
-
3Gain-
ZNF101-
-
-
-
3Gain-
ZNF132-
-
-
-
10Amp-
ZNF134-
-
-
-
12Amp-
ZNF135-
-
-
-
12Amp-
ZNF136-
-
-
-
5Amp-
ZNF14-
-
-
-
3Gain-
ZNF146-
-
-
-
3Gain-
ZNF154-
-
-
-
12Amp-
ZNF160-
-
-
-
9Amp-
ZNF17-
-
-
-
3Gain-
ZNF175-
-
-
-
6Amp-
ZNF181-
-
-
-
3Gain-
ZNF20-
-
-
-
5Amp-
ZNF202-
-
-
-
1Loss-
ZNF208-
-
-
-
3Gain-
ZNF211-
-
-
-
12Amp-
ZNF232-
-
-
-
8Amp-
ZNF236-
-
-
-
3Gain-
ZNF24-
-
-
-
3Gain-
ZNF253-
-
-
-
3Gain-
ZNF254-
-
-
-
5Amp-
ZNF256-
-
-
-
12Amp-
ZNF257-
-
-
-
3Gain-
ZNF260-
-
-
-
3Gain-
ZNF264-
-
-
-
3Gain-
ZNF274-
-
-
-
9Amp-
ZNF28-
-
-
-
9Amp-
ZNF30-
-
-
-
3Gain-
ZNF302-
-
-
-
3Gain-
ZNF304-
-
-
-
3Gain-
ZNF320-
-
-
-
9Amp-
ZNF324-
-
-
-
10Amp-
ZNF324B-
-
-
-
10Amp-
ZNF329-
-
-
-
9Amp-
ZNF331-
-
-
-
9Amp-
ZNF333-
-
-
-
4Gain-
ZNF337-
-
-
-
1Loss-
ZNF347-
-
-
-
9Amp-
ZNF350p.S444*
Nonsense
SNP
0.081
10Amp-
ZNF385B-
-
-
-
1Loss-
ZNF385Cp.R147C
Missense
SNP
0.164
7Amp-
ZNF395-
-
-
-
1Loss-
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF407-
-
-
-
3Gain-
ZNF415-
-
-
-
9Amp-
ZNF416-
-
-
-
12Amp-
ZNF417-
-
-
-
12Amp-
ZNF418-
-
-
-
12Amp-
ZNF419-
-
-
-
12Amp-
ZNF425-
-
-
-
3Gain-
ZNF429-
-
-
-
3Gain-
ZNF43-
-
-
-
3Gain-
ZNF430-
-
-
-
3Gain-
ZNF431-
-
-
-
3Gain-
ZNF432-
-
-
-
12Amp-
ZNF433-
-
-
-
5Amp-
ZNF439-
-
-
-
5Amp-
ZNF44-
-
-
-
5Amp-
ZNF440-
-
-
-
5Amp-
ZNF442-
-
-
-
5Amp-
ZNF443-
-
-
-
5Amp-
ZNF444-
-
-
-
8Amp-
ZNF446-
-
-
-
6Amp-
ZNF460-
-
-
-
3Gain-
ZNF468-
-
-
-
9Amp-
ZNF473-
-
-
-
12Amp-
ZNF480-
-
-
-
10Amp-
ZNF486-
-
-
-
3Gain-
ZNF490-
-
-
-
5Amp-
ZNF491-
-
-
-
5Amp-
ZNF492-
-
-
-
3Gain-
ZNF493-
-
-
-
3Gain-
ZNF497-
-
-
-
9Amp-
ZNF506-
-
-
-
3Gain-
ZNF507-
-
-
-
3Gain-
ZNF512B-
-
-
-
8Amp-
ZNF516-
-
-
-
3Gain-
ZNF519-
-
-
-
3Gain-
ZNF521-
-
-
-
3Gain-
ZNF524-
-
-
-
1Loss-
ZNF528-
-
-
-
10Amp-
ZNF530-
-
-
-
12Amp-
ZNF532-
-
-
-
3Gain-
ZNF534-
-
-
-
10Amp-
ZNF536-
-
-
-
3Gain-
ZNF543-
-
-
-
3Gain-
ZNF544-
-
-
-
9Amp-
ZNF547-
-
-
-
3Gain-
ZNF548-
-
-
-
3Gain-
ZNF549-
-
-
-
12Amp-
ZNF550-
-
-
-
12Amp-
ZNF551-
-
-
-
12Amp-
ZNF552-
-
-
-
12Amp-
ZNF563-
-
-
-
5Amp-
ZNF564-
-
-
-
5Amp-
ZNF565-
-
-
-
3Gain-
ZNF566-
-
-
-
3Gain-
ZNF577-
-
-
-
10Amp-
ZNF578-
-
-
-
10Amp-
ZNF579-
-
-
-
1Loss-
ZNF580-
-
-
-
1Loss-
ZNF581-
-
-
-
1Loss-
ZNF584-
-
-
-
9Amp-
ZNF586-
-
-
-
12Amp-
ZNF587-
-
-
-
12Amp-
ZNF587B-
-
-
-
12Amp-
ZNF594-
-
-
-
7Amp-
ZNF599-
-
-
-
3Gain-
ZNF600-
-
-
-
9Amp-
ZNF606-
-
-
-
12Amp-
ZNF610-
-
-
-
10Amp-
ZNF611-
-
-
-
9Amp-
ZNF613-
-
-
-
10Amp-
ZNF614-
-
-
-
10Amp-
ZNF615-
-
-
-
10Amp-
ZNF616-
-
-
-
15Amp-
ZNF625-
-
-
-
5Amp-
ZNF625-ZNF20-
-
-
-
5Amp-
ZNF626-
-
-
-
3Gain-
ZNF628-
-
-
-
1Loss-
ZNF649-
-
-
-
10Amp-
ZNF652-
-
-
-
9Amp-
ZNF66-
-
-
-
3Gain-
ZNF665-
-
-
-
9Amp-
ZNF671-
-
-
-
12Amp-
ZNF675-
-
-
-
5Amp-
ZNF676-
-
-
-
3Gain-
ZNF677-
-
-
-
9Amp-
ZNF681-
-
-
-
5Amp-
ZNF682-
-
-
-
3Gain-
ZNF69-
-
-
-
5Amp-
ZNF700-
-
-
-
5Amp-
ZNF701-
-
-
-
10Amp-
ZNF703-
-
-
-
4Gain-
ZNF705B-
-
-
-
1Loss-
ZNF705D-
-
-
-
1Loss-
ZNF705G-
-
-
-
1Loss-
ZNF708-
-
-
-
3Gain-
ZNF709-
-
-
-
5Amp-
ZNF714-
-
-
-
3Gain-
ZNF723-
-
-
-
3Gain-
ZNF724-
-
-
-
3Gain-
ZNF726-
-
-
-
5Amp-
ZNF728-
-
-
-
3Gain-
ZNF729-
-
-
-
3Gain-
ZNF730-
-
-
-
3Gain-
ZNF737-
-
-
-
3Gain-
ZNF738-
-
-
-
3Gain-
ZNF749-
-
-
-
12Amp-
ZNF750-
-
-
-
6Amp-
ZNF761-
-
-
-
9Amp-
ZNF763-
-
-
-
5Amp-
ZNF765-
-
-
-
12Amp-
ZNF766-
-
-
-
12Amp-
ZNF770-
-
-
-
1Loss-
ZNF772-
-
-
-
12Amp-
ZNF773-
-
-
-
12Amp-
ZNF775-
-
-
-
3Gain-
ZNF776-
-
-
-
12Amp-
ZNF784-
-
-
-
1Loss-
ZNF786p.R423T
Missense
SNP
0.271
3Gain-
ZNF787-
-
-
-
8Amp-
ZNF791-
-
-
-
5Amp-
ZNF792-
-
-
-
3Gain-
ZNF799-
-
-
-
5Amp-
ZNF8-
-
-
-
9Amp-
ZNF800-
-
-
-
3Gain-
ZNF805-
-
-
-
3Gain-
ZNF808-
-
-
-
10Amp-
ZNF813-
-
-
-
9Amp-
ZNF814-
-
-
-
12Amp-
ZNF816-
-
-
-
9Amp-
ZNF816-ZNF321P-
-
-
-
9Amp-
ZNF83-
-
-
-
9Amp-
ZNF831-
-
-
-
1Loss-
ZNF836-
-
-
-
15Amp-
ZNF837-
-
-
-
9Amp-
ZNF841-
-
-
-
12Amp-
ZNF844-
-
-
-
5Amp-
ZNF845-
-
-
-
9Amp-
ZNF85-
-
-
-
3Gain-
ZNF865-
-
-
-
1Loss-
ZNF878-
-
-
-
5Amp-
ZNF880-
-
-
-
10Amp-
ZNF888-
-
-
-
9Amp-
ZNF90p.S410L
Missense
SNP
0.307
3Gain-
ZNF91-
-
-
-
3Gain-
ZNF93-
-
-
-
3Gain-
ZNF98-
-
-
-
3Gain-
ZNF99-
-
-
-
3Gain-
ZNHIT2-
-
-
-
1Loss-
ZP2p.K285T
Missense
SNP
0.534
2--
ZPR1-
-
-
-
1Loss-
ZRANB3-
-
-
-
1Loss-
ZSCAN1-
-
-
-
12Amp-
ZSCAN18-
-
-
-
9Amp-
ZSCAN22-
-
-
-
9Amp-
ZSCAN30-
-
-
-
3Gain-
ZSCAN4-
-
-
-
12Amp-
ZSCAN5A-
-
-
-
8Amp-
ZSCAN5B-
-
-
-
8Amp-
ZSCAN5C-
-
-
-
8Amp-
ZSWIM4-
-
-
-
4Gain-
ZW10-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-