PDMR-435261~313-R~H22KM3-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABCB10-
-
-
-
5Amp-
ABL2-
-
-
-
4Gain-
AC005332.4-
-
-
-
NDNDAC005332.4--LRRC37A2
AC092017.3-
-
-
-
5Amp-
AC118470.1-
-
-
-
5Amp-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
5Amp-
ACBD3-
-
-
-
5Amp-
ACBD6-
-
-
-
5Amp-
ACKR1-
-
-
-
4Gain-
ACP6-
-
-
-
3Gain-
ACTA1-
-
-
-
5Amp-
ACTN2-
-
-
-
5Amp-
ADAM15-
-
-
-
4Gain-
ADAMTS4-
-
-
-
4Gain-
ADAMTSL4-
-
-
-
4Gain-
ADAR-
-
-
-
4Gain-
ADCY10-
-
-
-
4Gain-
ADGRL1p.A1055T
Missense
SNP
0.517
2--
ADIPOR1-
-
-
-
5Amp-
ADORA1-
-
-
-
5Amp-
ADSS-
-
-
-
5Amp-
AGT-
-
-
-
5Amp-
AHCTF1-
-
-
-
5Amp-
AIDA-
-
-
-
5Amp-
AIM2-
-
-
-
4Gain-
AKT3-
-
-
-
5Amp-
AL117348.2-
-
-
-
5Amp-
AL139011.2-
-
-
-
4Gain-
AL139142.2-
-
-
-
4Gain-
AL358472.6-
-
-
-
4Gain-
AL358472.7-
-
-
-
4Gain-
AL512785.2-
-
-
-
4Gain-
AL590132.1-
-
-
-
5Amp-
AL591806.3-
-
-
-
4Gain-
AL691442.1-
-
-
-
4Gain-
AL713999.1-
-
-
-
4Gain-
ALDH9A1-
-
-
-
4Gain-
ANGEL2-
-
-
-
5Amp-
ANGPTL1-
-
-
-
4Gain-
ANKRD34A-
-
-
-
5Amp-
ANKRD35-
-
-
-
5Amp-
ANKRD45-
-
-
-
4Gain-
ANP32E-
-
-
-
4Gain-
ANXA9-
-
-
-
4Gain-
APCp.S583*
Nonsense
SNP
0.577
2--
APCS-
-
-
-
4Gain-
APH1A-
-
-
-
4Gain-
APOA2-
-
-
-
4Gain-
APOBEC4-
-
-
-
5Amp-
AQP10-
-
-
-
4Gain-
ARF1-
-
-
-
5Amp-
ARHGAP30-
-
-
-
4Gain-
ARHGEF11-
-
-
-
4Gain-
ARHGEF2-
-
-
-
4Gain-
ARID4B-
-
-
-
5Amp-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL8A-
-
-
-
5Amp-
ARNT-
-
-
-
4Gain-
ARPC5-
-
-
-
5Amp-
ARV1-
-
-
-
5Amp-
ASH1L-
-
-
-
4Gain-
ASPM-
-
-
-
5Amp-
ASTN1-
-
-
-
4Gain-
ATF3-
-
-
-
5Amp-
ATF6-
-
-
-
4Gain-
ATP1A2-
-
-
-
4Gain-
ATP1A4-
-
-
-
4Gain-
ATP1B1-
-
-
-
4Gain-
ATP2B4-
-
-
-
5Amp-
ATP6V1G3-
-
-
-
5Amp-
ATP8B2-
-
-
-
4Gain-
AVPR1B-
-
-
-
5Amp-
AXDND1-
-
-
-
4Gain-
AXIN1p.T58R
Missense
SNP
0.429
2--
B3GALNT2-
-
-
-
5Amp-
B3GALT2-
-
-
-
5Amp-
B4GALT3-
-
-
-
4Gain-
BATF3-
-
-
-
5Amp-
BCAN-
-
-
-
4Gain-
BCL9-
-
-
-
3Gain-
BGLAP-
-
-
-
4Gain-
BLZF1-
-
-
-
4Gain-
BNIPL-
-
-
-
4Gain-
BOLA1-
-
-
-
3Gain-
BPNT1-
-
-
-
5Amp-
BRINP2-
-
-
-
4Gain-
BRINP3-
-
-
-
6Amp-
BROX-
-
-
-
5Amp-
BTG2-
-
-
-
5Amp-
C1orf100-
-
-
-
5Amp-
C1orf105-
-
-
-
4Gain-
C1orf112-
-
-
-
4Gain-
C1orf115-
-
-
-
5Amp-
C1orf116-
-
-
-
5Amp-
C1orf131-
-
-
-
5Amp-
C1orf189-
-
-
-
4Gain-
C1orf198-
-
-
-
5Amp-
C1orf21-
-
-
-
5Amp-
C1orf226-
-
-
-
4Gain-
C1orf35-
-
-
-
5Amp-
C1orf43-
-
-
-
4Gain-
C1orf53-
-
-
-
5Amp-
C1orf54-
-
-
-
4Gain-
C1orf56-
-
-
-
4Gain-
C1orf61-
-
-
-
4Gain-
C1orf68-
-
-
-
4Gain-
C1orf74-
-
-
-
5Amp-
C2CD4D-
-
-
-
4Gain-
C4BPA-
-
-
-
5Amp-
C4BPB-
-
-
-
5Amp-
CA14-
-
-
-
4Gain-
CACNA1Ep.A36V
Missense
SNP
0.739
5Amp-
CACNA1S-
-
-
-
5Amp-
CACYBP-
-
-
-
4Gain-
CADM3-
-
-
-
4Gain-
CAMK1G-
-
-
-
5Amp-
CAMSAP2-
-
-
-
5Amp-
CAPN2-
-
-
-
5Amp-
CAPN8-
-
-
-
5Amp-
CAPN9-
-
-
-
5Amp-
CASQ1-
-
-
-
4Gain-
CATSPERE-
-
-
-
5Amp-
CCDC171p.Q1026*
Nonsense
SNP
0.558
2--
CCDC181-
-
-
-
4Gain-
CCDC185-
-
-
-
5Amp-
CCDC190-
-
-
-
4Gain-
CCSAP-
-
-
-
5Amp-
CCT3-
-
-
-
4Gain-
CD160-
-
-
-
5Amp-
CD1A-
-
-
-
4Gain-
CD1B-
-
-
-
4Gain-
CD1C-
-
-
-
4Gain-
CD1D-
-
-
-
4Gain-
CD1E-
-
-
-
4Gain-
CD244-
-
-
-
4Gain-
CD247-
-
-
-
4Gain-
CD34-
-
-
-
5Amp-
CD46-
-
-
-
5Amp-
CD48-
-
-
-
4Gain-
CD55-
-
-
-
5Amp-
CD5L-
-
-
-
4Gain-
CD84-
-
-
-
4Gain-
CDC42BPA-
-
-
-
5Amp-
CDC42SE1-
-
-
-
4Gain-
CDC73-
-
-
-
5Amp-
CDK18-
-
-
-
5Amp-
CELF3-
-
-
-
4Gain-
CELF6p.D215N
Missense
SNP
0.214
2--
CENPF-
-
-
-
5Amp-
CENPL-
-
-
-
4Gain-
CEP170-
-
-
-
5Amp-
CEP350-
-
-
-
4Gain-
CERS2-
-
-
-
4Gain-
CFAP126-
-
-
-
4Gain-
CFAP45-
-
-
-
4Gain-
CFAP61p.N43S
Missense
SNP
0.491
2--
CFH-
-
-
-
5Amp-
CFHR1-
-
-
-
1Loss-
CFHR2-
-
-
-
5Amp-
CFHR3-
-
-
-
1Loss-
CFHR4-
-
-
-
5Amp-
CFHR5-
-
-
-
5Amp-
CGN-
-
-
-
4Gain-
CHD1L-
-
-
-
3Gain-
CHI3L1-
-
-
-
5Amp-
CHIT1-
-
-
-
5Amp-
CHML-
-
-
-
5Amp-
CHRM3-
-
-
-
5Amp-
CHRNB2-
-
-
-
4Gain-
CHTOP-
-
-
-
4Gain-
CIART-
-
-
-
4Gain-
CKS1B-
-
-
-
4Gain-
CLK2-
-
-
-
4Gain-
CNIH3-
-
-
-
5Amp-
CNIH4-
-
-
-
5Amp-
CNST-
-
-
-
5Amp-
CNTN2-
-
-
-
5Amp-
COA6-
-
-
-
5Amp-
COG2-
-
-
-
5Amp-
COLGALT2-
-
-
-
5Amp-
COP1-
-
-
-
4Gain-
COPA-
-
-
-
4Gain-
COQ8A-
-
-
-
5Amp-
COX20-
-
-
-
5Amp-
CR1-
-
-
-
5Amp-
CR1L-
-
-
-
5Amp-
CR2-
-
-
-
5Amp-
CRABP2-
-
-
-
4Gain-
CRB1-
-
-
-
5Amp-
CRCT1-
-
-
-
4Gain-
CREB3L4-
-
-
-
4Gain-
CREG1-
-
-
-
4Gain-
CRNN-
-
-
-
4Gain-
CRP-
-
-
-
4Gain-
CRTC2-
-
-
-
4Gain-
CSRP1-
-
-
-
5Amp-
CTSE-
-
-
-
5Amp-
CTSK-
-
-
-
4Gain-
CTSS-
-
-
-
4Gain-
CYB5R1-
-
-
-
5Amp-
DAP3-
-
-
-
4Gain-
DARS2-
-
-
-
4Gain-
DCAF6-
-
-
-
4Gain-
DCAF8-
-
-
-
4Gain-
DCST1-
-
-
-
4Gain-
DCST2-
-
-
-
4Gain-
DDR2-
-
-
-
4Gain-
DDX59-
-
-
-
5Amp-
DEDD-
-
-
-
4Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
5Amp-
DENND1B-
-
-
-
5Amp-
DENND4B-
-
-
-
4Gain-
DESI2-
-
-
-
5Amp-
DHX9-
-
-
-
5Amp-
DISC1-
-
-
-
5Amp-
DISP1-
-
-
-
5Amp-
DNAH14-
-
-
-
5Amp-
DNM3-
-
-
-
4Gain-
DPM3-
-
-
-
4Gain-
DPT-
-
-
-
4Gain-
DSTYK-
-
-
-
5Amp-
DTL-
-
-
-
5Amp-
DUSP10-
-
-
-
5Amp-
DUSP12-
-
-
-
4Gain-
DUSP23-
-
-
-
4Gain-
DUSP27-
-
-
-
4Gain-
DYRK3-
-
-
-
5Amp-
ECM1-
-
-
-
4Gain-
EDARADD-
-
-
-
5Amp-
EDEM3-
-
-
-
5Amp-
EFCAB2-
-
-
-
5Amp-
EFNA1-
-
-
-
4Gain-
EFNA3-
-
-
-
4Gain-
EFNA4-
-
-
-
4Gain-
EGLN1-
-
-
-
5Amp-
EIF2D-
-
-
-
5Amp-
ELF3-
-
-
-
5Amp-
ELK4-
-
-
-
5Amp-
ENAH-
-
-
-
5Amp-
ENSA-
-
-
-
4Gain-
EPHX1-
-
-
-
5Amp-
EPRS-
-
-
-
5Amp-
ERO1B-
-
-
-
5Amp-
ESRRG-
-
-
-
5Amp-
ETNK2-
-
-
-
5Amp-
ETV3-
-
-
-
4Gain-
ETV3L-
-
-
-
4Gain-
EXO1-
-
-
-
5Amp-
EXOC8-
-
-
-
5Amp-
F11R-
-
-
-
4Gain-
F13B-
-
-
-
5Amp-
F5-
-
-
-
4Gain-
FAM129A-
-
-
-
5Amp-
FAM163A-
-
-
-
4Gain-
FAM177B-
-
-
-
5Amp-
FAM189B-
-
-
-
4Gain-
FAM20B-
-
-
-
4Gain-
FAM71A-
-
-
-
5Amp-
FAM78B-
-
-
-
4Gain-
FAM89A-
-
-
-
5Amp-
FASLG-
-
-
-
4Gain-
FAT4p.S3646I
Missense
SNP
0.464
2--
FBXO28-
-
-
-
5Amp-
FCAMR-
-
-
-
5Amp-
FCER1A-
-
-
-
4Gain-
FCER1G-
-
-
-
4Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
4Gain-
FCGR2B-
-
-
-
4Gain-
FCGR2C-
-
-
-
4Gain-
FCGR3A-
-
-
-
4Gain-
FCGR3B-
-
-
-
4Gain-
FCMR-
-
-
-
5Amp-
FCRL1-
-
-
-
4Gain-
FCRL2-
-
-
-
4Gain-
FCRL3-
-
-
-
4Gain-
FCRL4-
-
-
-
4Gain-
FCRL5-
-
-
-
4Gain-
FCRL6-
-
-
-
4Gain-
FCRLA-
-
-
-
4Gain-
FCRLB-
-
-
-
4Gain-
FDPS-
-
-
-
4Gain-
FH-
-
-
-
5Amp-
FLAD1-
-
-
-
4Gain-
FLG-
-
-
-
4Gain-
FLG2-
-
-
-
4Gain-
FLRT2-
-
-
-
3Gain-
FLVCR1-
-
-
-
5Amp-
FMN2-
-
-
-
5Amp-
FMO1-
-
-
-
4Gain-
FMO2-
-
-
-
4Gain-
FMO3-
-
-
-
4Gain-
FMO4-
-
-
-
4Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
5Amp-
G0S2-
-
-
-
5Amp-
GABPB2-
-
-
-
4Gain-
GALNT2-
-
-
-
5Amp-
GATAD2B-
-
-
-
4Gain-
GBA-
-
-
-
4Gain-
GCSAML-
-
-
-
5Amp-
GCSAML-AS1-
-
-
-
5Amp-
GGPS1-
-
-
-
5Amp-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC2-
-
-
-
5Amp-
GJC3p.R144G
Missense
SNP
0.520
2--
GLMP-
-
-
-
4Gain-
GLRX2-
-
-
-
5Amp-
GLUL-
-
-
-
5Amp-
GNG4-
-
-
-
5Amp-
GNPAT-
-
-
-
5Amp-
GOLPH3L-
-
-
-
4Gain-
GOLT1A-
-
-
-
5Amp-
GON4L-
-
-
-
4Gain-
GORAB-
-
-
-
4Gain-
GPA33-
-
-
-
4Gain-
GPATCH2-
-
-
-
5Amp-
GPATCH4-
-
-
-
4Gain-
GPR137B-
-
-
-
5Amp-
GPR161-
-
-
-
4Gain-
GPR25-
-
-
-
5Amp-
GPR37L1-
-
-
-
5Amp-
GPR50p.R339H
Missense
SNP
1.000
NDND-
GPR52-
-
-
-
4Gain-
GPR89A-
-
-
-
5Amp-
GPR89B-
-
-
-
3Gain-
GREM2-
-
-
-
5Amp-
GRM2p.R118C
Missense
SNP
0.512
2--
GUK1-
-
-
-
5Amp-
H3F3A-
-
-
-
5Amp-
HAPLN2-
-
-
-
4Gain-
HAX1-
-
-
-
4Gain-
HCN3-
-
-
-
4Gain-
HDGF-
-
-
-
4Gain-
HEATR1-
-
-
-
5Amp-
HHAT-
-
-
-
5Amp-
HHIPL2-
-
-
-
5Amp-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
5Amp-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
5Amp-
HIST3H2BB-
-
-
-
5Amp-
HIST3H3-
-
-
-
5Amp-
HJV-
-
-
-
5Amp-
HLX-
-
-
-
5Amp-
HMCN1-
-
-
-
5Amp-
HNRNPU-
-
-
-
5Amp-
HORMAD1-
-
-
-
4Gain-
HRNR-
-
-
-
4Gain-
HSD11B1-
-
-
-
5Amp-
HSD17B7-
-
-
-
4Gain-
HSPA6-
-
-
-
4Gain-
IARS2-
-
-
-
5Amp-
IBA57-
-
-
-
5Amp-
IER5-
-
-
-
5Amp-
IFI16-
-
-
-
4Gain-
IGFN1-
-
-
-
5Amp-
IGSF8-
-
-
-
4Gain-
IGSF9-
-
-
-
4Gain-
IKBKE-
-
-
-
5Amp-
IL10-
-
-
-
5Amp-
IL19-
-
-
-
5Amp-
IL20-
-
-
-
5Amp-
IL24-
-
-
-
5Amp-
IL6R-
-
-
-
4Gain-
ILDR2-
-
-
-
4Gain-
ILF2-
-
-
-
4Gain-
INAVA-
-
-
-
5Amp-
INSRR-
-
-
-
4Gain-
INTS3-
-
-
-
4Gain-
INTS7-
-
-
-
5Amp-
IPO9-
-
-
-
5Amp-
IQGAP3-
-
-
-
4Gain-
IRF2BP2-
-
-
-
5Amp-
IRF6-
-
-
-
5Amp-
ISG20L2-
-
-
-
4Gain-
ITGA10-
-
-
-
5Amp-
ITLN1-
-
-
-
4Gain-
ITLN2-
-
-
-
4Gain-
ITPKB-
-
-
-
5Amp-
IVL-
-
-
-
4Gain-
IVNS1ABP-
-
-
-
5Amp-
JMJD4-
-
-
-
5Amp-
JTB-
-
-
-
4Gain-
KCNH1-
-
-
-
5Amp-
KCNJ10-
-
-
-
4Gain-
KCNJ9-
-
-
-
4Gain-
KCNK1-
-
-
-
5Amp-
KCNK2-
-
-
-
5Amp-
KCNN3-
-
-
-
4Gain-
KCNT2-
-
-
-
5Amp-
KCTD3-
-
-
-
5Amp-
KDM5B-
-
-
-
5Amp-
KHDC4-
-
-
-
4Gain-
KIAA0040-
-
-
-
4Gain-
KIAA1614-
-
-
-
5Amp-
KIF14-
-
-
-
5Amp-
KIF21B-
-
-
-
5Amp-
KIF26B-
-
-
-
5Amp-
KIFAP3-
-
-
-
4Gain-
KIRREL1-
-
-
-
4Gain-
KISS1-
-
-
-
5Amp-
KLHDC8A-
-
-
-
5Amp-
KLHDC9-
-
-
-
4Gain-
KLHL12-
-
-
-
5Amp-
KLHL20-
-
-
-
4Gain-
KMO-
-
-
-
5Amp-
KPRP-
-
-
-
4Gain-
KRTCAP2-
-
-
-
4Gain-
LAD1-
-
-
-
5Amp-
LAMB3-
-
-
-
5Amp-
LAMC1-
-
-
-
5Amp-
LAMC2-
-
-
-
5Amp-
LAMTOR2-
-
-
-
4Gain-
LAX1-
-
-
-
5Amp-
LBR-
-
-
-
5Amp-
LCE1A-
-
-
-
4Gain-
LCE1B-
-
-
-
4Gain-
LCE1C-
-
-
-
4Gain-
LCE1E-
-
-
-
4Gain-
LCE1F-
-
-
-
4Gain-
LCE2A-
-
-
-
4Gain-
LCE2B-
-
-
-
4Gain-
LCE2C-
-
-
-
4Gain-
LCE2D-
-
-
-
4Gain-
LCE3A-
-
-
-
4Gain-
LCE3B-
-
-
-
4Gain-
LCE3C-
-
-
-
4Gain-
LCE3D-
-
-
-
4Gain-
LCE3E-
-
-
-
4Gain-
LCE4A-
-
-
-
4Gain-
LCE5A-
-
-
-
4Gain-
LCE6A-
-
-
-
4Gain-
LEFTY1-
-
-
-
5Amp-
LEFTY2-
-
-
-
5Amp-
LELP1-
-
-
-
4Gain-
LEMD1-
-
-
-
5Amp-
LENEP-
-
-
-
4Gain-
LGALS8-
-
-
-
5Amp-
LGR6-
-
-
-
5Amp-
LHX4-
-
-
-
4Gain-
LHX9-
-
-
-
5Amp-
LIMK1p.R389*
Nonsense
SNP
0.482
2--
LIN9-
-
-
-
5Amp-
LINC02203-
-
-
-
3Gain-
LINGO4-
-
-
-
4Gain-
LIX1L-
-
-
-
5Amp-
LMNA-
-
-
-
4Gain-
LMOD1-
-
-
-
5Amp-
LMX1A-
-
-
-
4Gain-
LOR-
-
-
-
4Gain-
LPGAT1-
-
-
-
5Amp-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1LossAC005332.4--LRRC37A2
LRRC52-
-
-
-
4Gain-
LRRC71-
-
-
-
4Gain-
LRRN2-
-
-
-
5Amp-
LY9-
-
-
-
4Gain-
LYPD8-
-
-
-
5Amp-
LYPLAL1-
-
-
-
5Amp-
LYSMD1-
-
-
-
4Gain-
LYST-
-
-
-
5Amp-
LZTS2p.G234R
Missense
SNP
0.478
2--
MAEL-
-
-
-
4Gain-
MAP10-
-
-
-
5Amp-
MAP1LC3C-
-
-
-
5Amp-
MAP3K21-
-
-
-
5Amp-
MAPKAPK2-
-
-
-
5Amp-
MARC1-
-
-
-
5Amp-
MARC2-
-
-
-
5Amp-
MARK1-
-
-
-
5Amp-
MCL1-
-
-
-
4Gain-
MDM4-
-
-
-
5Amp-
MEF2D-
-
-
-
4Gain-
METTL11B-
-
-
-
4Gain-
METTL13-
-
-
-
4Gain-
METTL18-
-
-
-
4Gain-
MEX3A-
-
-
-
4Gain-
MFSD4A-
-
-
-
5Amp-
MGST3-
-
-
-
4Gain-
MIA3-
-
-
-
5Amp-
MINDY1-
-
-
-
4Gain-
MIXL1-
-
-
-
5Amp-
MLLT11-
-
-
-
4Gain-
MNDA-
-
-
-
4Gain-
MPC2-
-
-
-
4Gain-
MPZ-
-
-
-
4Gain-
MPZL1-
-
-
-
4Gain-
MR1-
-
-
-
5Amp-
MROH9-
-
-
-
4Gain-
MRPL24-
-
-
-
4Gain-
MRPL55-
-
-
-
5Amp-
MRPL9-
-
-
-
4Gain-
MRPS14-
-
-
-
4Gain-
MRPS21-
-
-
-
4Gain-
MSTO1-
-
-
-
4Gain-
MT1HL1-
-
-
-
5Amp-
MTMR11-
-
-
-
3Gain-
MTR-
-
-
-
5Amp-
MTX1-
-
-
-
4Gain-
MUC1-
-
-
-
4Gain-
MXRA5p.R1165Q
Missense
SNP
1.000
NDND-
MYBPH-
-
-
-
5Amp-
MYOC-
-
-
-
4Gain-
MYOCOS-
-
-
-
4Gain-
MYOG-
-
-
-
5Amp-
NAV1-
-
-
-
5Amp-
NAXE-
-
-
-
4Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
5Amp-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
5Amp-
NBPF9-
-
-
-
3Gain-
NCF2-
-
-
-
5Amp-
NCSTN-
-
-
-
4Gain-
NDUFS2-
-
-
-
4Gain-
NECTIN4-
-
-
-
4Gain-
NEK2-
-
-
-
5Amp-
NEK7-
-
-
-
5Amp-
NENF-
-
-
-
5Amp-
NES-
-
-
-
4Gain-
NFASC-
-
-
-
5Amp-
NHLH1-
-
-
-
4Gain-
NID1-
-
-
-
5Amp-
NIT1-
-
-
-
4Gain-
NLRP3-
-
-
-
5Amp-
NME7-
-
-
-
4Gain-
NMNAT2-
-
-
-
5Amp-
NOS1AP-
-
-
-
4Gain-
NOTCH2NLA-
-
-
-
3Gain-
NPHS2-
-
-
-
4Gain-
NPL-
-
-
-
5Amp-
NPR1-
-
-
-
4Gain-
NR1I3-
-
-
-
4Gain-
NR5A2-
-
-
-
5Amp-
NSF-
-
-
-
1Loss-
NSL1-
-
-
-
5Amp-
NTPCR-
-
-
-
5Amp-
NTRK1-
-
-
-
4Gain-
NTRK3p.R787C
Missense
SNP
0.575
2--
NUAK2-
-
-
-
5Amp-
NUCKS1-
-
-
-
5Amp-
NUDT17-
-
-
-
5Amp-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
4Gain-
NUP133-
-
-
-
5Amp-
NUP210L-
-
-
-
4Gain-
NVL-
-
-
-
5Amp-
OAZ3-
-
-
-
4Gain-
OBSCN-
-
-
-
5Amp-
OCLM-
-
-
-
5Amp-
ODR4-
-
-
-
5Amp-
OLFML2B-
-
-
-
4Gain-
OPN3-
-
-
-
5Amp-
OPTC-
-
-
-
5Amp-
OR10J1-
-
-
-
4Gain-
OR10J3-
-
-
-
4Gain-
OR10J5-
-
-
-
4Gain-
OR10K1-
-
-
-
4Gain-
OR10K2-
-
-
-
4Gain-
OR10R2-
-
-
-
4Gain-
OR10T2-
-
-
-
4Gain-
OR10X1-
-
-
-
4Gain-
OR10Z1-
-
-
-
4Gain-
OR11L1-
-
-
-
5Amp-
OR13G1-
-
-
-
5Amp-
OR14A16-
-
-
-
5Amp-
OR14A2-
-
-
-
5Amp-
OR14C36-
-
-
-
5Amp-
OR14I1-
-
-
-
5Amp-
OR14K1-
-
-
-
5Amp-
OR1C1-
-
-
-
5Amp-
OR2AJ1-
-
-
-
5Amp-
OR2AK2-
-
-
-
5Amp-
OR2B11-
-
-
-
5Amp-
OR2C3-
-
-
-
5Amp-
OR2G2-
-
-
-
5Amp-
OR2G3-
-
-
-
5Amp-
OR2G6-
-
-
-
5Amp-
OR2L13-
-
-
-
5Amp-
OR2L2-
-
-
-
5Amp-
OR2L3-
-
-
-
5Amp-
OR2L5-
-
-
-
5Amp-
OR2L8-
-
-
-
5Amp-
OR2M2-
-
-
-
5Amp-
OR2M3-
-
-
-
5Amp-
OR2M4-
-
-
-
5Amp-
OR2M5-
-
-
-
5Amp-
OR2M7-
-
-
-
5Amp-
OR2T1-
-
-
-
5Amp-
OR2T10-
-
-
-
5Amp-
OR2T11-
-
-
-
5Amp-
OR2T12-
-
-
-
5Amp-
OR2T2-
-
-
-
5Amp-
OR2T27-
-
-
-
5Amp-
OR2T29-
-
-
-
5Amp-
OR2T3-
-
-
-
5Amp-
OR2T33-
-
-
-
5Amp-
OR2T34-
-
-
-
5Amp-
OR2T35-
-
-
-
5Amp-
OR2T4-
-
-
-
5Amp-
OR2T5-
-
-
-
5Amp-
OR2T6-
-
-
-
5Amp-
OR2T8-
-
-
-
5Amp-
OR2W3-
-
-
-
5Amp-
OR4M2-
-
-
-
3Gain-
OR4N4-
-
-
-
3Gain-
OR52E6p.L100I
Missense
SNP
0.444
2--
OR6F1-
-
-
-
5Amp-
OR6K2-
-
-
-
4Gain-
OR6K3-
-
-
-
4Gain-
OR6K6-
-
-
-
4Gain-
OR6N1-
-
-
-
4Gain-
OR6N2-
-
-
-
4Gain-
OR6P1-
-
-
-
4Gain-
OR6Y1-
-
-
-
4Gain-
OTUD7B-
-
-
-
4Gain-
PABPC4L-
-
-
-
3Gain-
PAPPA2-
-
-
-
4Gain-
PAQR6-
-
-
-
4Gain-
PARP1-
-
-
-
5Amp-
PBX1-
-
-
-
4Gain-
PBXIP1-
-
-
-
4Gain-
PCDH10-
-
-
-
3Gain-
PCDH18-
-
-
-
3Gain-
PCDH7-
-
-
-
3Gain-
PCNX2-
-
-
-
5Amp-
PCP4L1-
-
-
-
4Gain-
PDC-
-
-
-
5Amp-
PDE4DIP-
-
-
-
3Gain-
PDLIM7p.E232Q
Missense
SNP
0.535
2--
PDZK1-
-
-
-
5Amp-
PEA15-
-
-
-
4Gain-
PEAR1-
-
-
-
4Gain-
PEX11B-
-
-
-
5Amp-
PEX19-
-
-
-
4Gain-
PFDN2-
-
-
-
4Gain-
PFKFB2-
-
-
-
5Amp-
PGBD2-
-
-
-
5Amp-
PGBD5-
-
-
-
5Amp-
PGLYRP3-
-
-
-
4Gain-
PGLYRP4-
-
-
-
4Gain-
PHLDA3-
-
-
-
5Amp-
PI4KB-
-
-
-
4Gain-
PIAS3-
-
-
-
5Amp-
PIGC-
-
-
-
4Gain-
PIGM-
-
-
-
4Gain-
PIGR-
-
-
-
5Amp-
PIK3C2B-
-
-
-
5Amp-
PIP5K1A-
-
-
-
4Gain-
PKLR-
-
-
-
4Gain-
PKP1-
-
-
-
5Amp-
PLA2G4A-
-
-
-
6Amp-
PLD5-
-
-
-
5Amp-
PLEKHA6-
-
-
-
5Amp-
PLEKHO1-
-
-
-
4Gain-
PLXNA2-
-
-
-
5Amp-
PLXNB2p.R600*
Nonsense
SNP
0.477
2--
PM20D1-
-
-
-
5Amp-
PMF1-
-
-
-
4Gain-
PMF1-BGLAP-
-
-
-
4Gain-
PMVK-
-
-
-
4Gain-
POGK-
-
-
-
4Gain-
POGZ-
-
-
-
4Gain-
POLR3C-
-
-
-
5Amp-
POLR3GL-
-
-
-
5Amp-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POU2F1-
-
-
-
4Gain-
PPFIA4-
-
-
-
5Amp-
PPOX-
-
-
-
4Gain-
PPP1R12B-
-
-
-
5Amp-
PPP1R15B-
-
-
-
5Amp-
PPP2R5A-
-
-
-
5Amp-
PRAG1-
-
-
-
1Loss-
PRCC-
-
-
-
4Gain-
PRDX6-
-
-
-
4Gain-
PRELP-
-
-
-
5Amp-
PRG4-
-
-
-
5Amp-
PRKAB2-
-
-
-
3Gain-
PROX1-
-
-
-
5Amp-
PRPF3-
-
-
-
4Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR9-
-
-
-
4Gain-
PRRC2C-
-
-
-
4Gain-
PRRX1-
-
-
-
4Gain-
PRSS38-
-
-
-
5Amp-
PRUNE1-
-
-
-
4Gain-
PSEN2-
-
-
-
5Amp-
PSMB4-
-
-
-
4Gain-
PSMD4-
-
-
-
4Gain-
PTGS2-
-
-
-
5Amp-
PTPN14-
-
-
-
5Amp-
PTPN7-
-
-
-
5Amp-
PTPRC-
-
-
-
5Amp-
PYCR2-
-
-
-
5Amp-
PYGO2-
-
-
-
4Gain-
PYHIN1-
-
-
-
4Gain-
QSOX1-
-
-
-
4Gain-
RAB13-
-
-
-
4Gain-
RAB25-
-
-
-
4Gain-
RAB29-
-
-
-
5Amp-
RAB3GAP2-
-
-
-
5Amp-
RAB4A-
-
-
-
5Amp-
RABGAP1L-
-
-
-
4Gain-
RABIF-
-
-
-
5Amp-
RALGPS2-
-
-
-
4Gain-
RASAL2-
-
-
-
4Gain-
RASSF5-
-
-
-
5Amp-
RB1p.R320*
Nonsense
SNP
0.350
2--
RBBP5-
-
-
-
5Amp-
RBM34-
-
-
-
5Amp-
RBM8A-
-
-
-
5Amp-
RC3H1-
-
-
-
4Gain-
RCOR3-
-
-
-
5Amp-
RCSD1-
-
-
-
4Gain-
RD3-
-
-
-
5Amp-
REN-
-
-
-
5Amp-
RFX5-
-
-
-
4Gain-
RGL1-
-
-
-
5Amp-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
6Amp-
RGS13-
-
-
-
6Amp-
RGS16-
-
-
-
5Amp-
RGS18-
-
-
-
6Amp-
RGS2-
-
-
-
6Amp-
RGS21-
-
-
-
6Amp-
RGS4-
-
-
-
4Gain-
RGS5-
-
-
-
4Gain-
RGS7-
-
-
-
5Amp-
RGS8-
-
-
-
5Amp-
RGSL1-
-
-
-
5Amp-
RHBG-
-
-
-
4Gain-
RHEX-
-
-
-
5Amp-
RHOU-
-
-
-
5Amp-
RIIAD1-
-
-
-
4Gain-
RIT1-
-
-
-
4Gain-
RNASEL-
-
-
-
5Amp-
RNF115-
-
-
-
5Amp-
RNF187-
-
-
-
5Amp-
RNF2-
-
-
-
5Amp-
RNPEP-
-
-
-
5Amp-
RORC-
-
-
-
4Gain-
RPRD2-
-
-
-
4Gain-
RPS27-
-
-
-
4Gain-
RPS6KC1-
-
-
-
5Amp-
RPTN-
-
-
-
4Gain-
RRNAD1-
-
-
-
4Gain-
RRP15-
-
-
-
5Amp-
RUSC1-
-
-
-
4Gain-
RXFP4-
-
-
-
4Gain-
RXRG-
-
-
-
4Gain-
RYR2-
-
-
-
5Amp-
S100A1-
-
-
-
4Gain-
S100A10-
-
-
-
4Gain-
S100A11-
-
-
-
4Gain-
S100A12-
-
-
-
4Gain-
S100A13-
-
-
-
4Gain-
S100A14-
-
-
-
4Gain-
S100A16-
-
-
-
4Gain-
S100A2-
-
-
-
4Gain-
S100A3-
-
-
-
4Gain-
S100A4-
-
-
-
4Gain-
S100A5-
-
-
-
4Gain-
S100A6-
-
-
-
4Gain-
S100A7-
-
-
-
4Gain-
S100A7A-
-
-
-
4Gain-
S100A7L2-
-
-
-
4Gain-
S100A8-
-
-
-
4Gain-
S100A9-
-
-
-
4Gain-
SCAMP3-
-
-
-
4Gain-
SCCPDH-
-
-
-
5Amp-
SCNM1-
-
-
-
4Gain-
SCYL3-
-
-
-
4Gain-
SDCCAG8-
-
-
-
5Amp-
SDE2-
-
-
-
5Amp-
SDHC-
-
-
-
4Gain-
SEC16B-
-
-
-
4Gain-
SEC31Ap.T406M
Missense
SNP
0.511
2--
SELE-
-
-
-
4Gain-
SELENBP1-
-
-
-
4Gain-
SELL-
-
-
-
4Gain-
SELP-
-
-
-
4Gain-
SEMA4A-
-
-
-
4Gain-
SEMA6C-
-
-
-
4Gain-
SERPINC1-
-
-
-
4Gain-
SERTAD4-
-
-
-
5Amp-
SETDB1-
-
-
-
4Gain-
SF3B4-
-
-
-
3Gain-
SFT2D2-
-
-
-
4Gain-
SH2D1B-
-
-
-
4Gain-
SH2D2A-
-
-
-
4Gain-
SH3BP5L-
-
-
-
5Amp-
SHC1-
-
-
-
4Gain-
SHCBP1L-
-
-
-
5Amp-
SHEp.M229I
Missense
SNP
0.230
4Gain-
SHISA4-
-
-
-
5Amp-
SIPA1L2-
-
-
-
5Amp-
SLAMF1-
-
-
-
4Gain-
SLAMF6-
-
-
-
4Gain-
SLAMF7-
-
-
-
4Gain-
SLAMF8-
-
-
-
4Gain-
SLAMF9-
-
-
-
4Gain-
SLC19A2-
-
-
-
4Gain-
SLC25A44-
-
-
-
4Gain-
SLC26A9-
-
-
-
5Amp-
SLC27A3-
-
-
-
4Gain-
SLC30A1-
-
-
-
5Amp-
SLC30A10-
-
-
-
5Amp-
SLC35F3-
-
-
-
5Amp-
SLC39A1-
-
-
-
4Gain-
SLC41A1-
-
-
-
5Amp-
SLC45A3-
-
-
-
5Amp-
SLC50A1-
-
-
-
4Gain-
SLC7A11-
-
-
-
3Gain-
SLC9C2-
-
-
-
4Gain-
SMCP-
-
-
-
4Gain-
SMG5-
-
-
-
4Gain-
SMG7-
-
-
-
5Amp-
SMYD2-
-
-
-
5Amp-
SMYD3-
-
-
-
5Amp-
SNAP47-
-
-
-
5Amp-
SNAPIN-
-
-
-
4Gain-
SNHG28-
-
-
-
4Gain-
SNRPE-
-
-
-
5Amp-
SNX27-
-
-
-
4Gain-
SOAT1-
-
-
-
4Gain-
SOX13-
-
-
-
5Amp-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG16p.R196Q
Missense
SNP
0.623
2--
SPATA17-
-
-
-
5Amp-
SPATA45-
-
-
-
5Amp-
SPATA46-
-
-
-
4Gain-
SPHAR-
-
-
-
5Amp-
SPRR1A-
-
-
-
4Gain-
SPRR1B-
-
-
-
4Gain-
SPRR3-
-
-
-
4Gain-
SPRR4-
-
-
-
4Gain-
SPRTN-
-
-
-
5Amp-
SPTA1-
-
-
-
4Gain-
SRGAP2-
-
-
-
5Amp-
SRGAP2B-
-
-
-
5Amp-
SRP9-
-
-
-
5Amp-
SSR2-
-
-
-
4Gain-
STUM-
-
-
-
5Amp-
STX6-
-
-
-
5Amp-
SUCO-
-
-
-
4Gain-
SULT1B1-
-
-
-
1Loss-
SUSD4-
-
-
-
5Amp-
SV2A-
-
-
-
3Gain-
SWT1-
-
-
-
5Amp-
SYT11-
-
-
-
4Gain-
SYT14-
-
-
-
5Amp-
SYT2-
-
-
-
5Amp-
TADA1-
-
-
-
4Gain-
TAF1A-
-
-
-
5Amp-
TAF5L-
-
-
-
5Amp-
TAGLN2-
-
-
-
4Gain-
TARBP1-
-
-
-
5Amp-
TARS2-
-
-
-
4Gain-
TATDN3-
-
-
-
5Amp-
TBCE-
-
-
-
5Amp-
TBX19-
-
-
-
4Gain-
TCHH-
-
-
-
4Gain-
TCHHL1-
-
-
-
4Gain-
TDRD10-
-
-
-
4Gain-
TDRD5-
-
-
-
4Gain-
TDRKH-
-
-
-
4Gain-
TEDDM1-
-
-
-
5Amp-
TEX35-
-
-
-
4Gain-
TEX50-
-
-
-
4Gain-
TFB2M-
-
-
-
5Amp-
TGFB2-
-
-
-
5Amp-
THBS3-
-
-
-
4Gain-
THEM4-
-
-
-
4Gain-
THEM5-
-
-
-
4Gain-
TIMM17A-
-
-
-
5Amp-
TIPRL-
-
-
-
4Gain-
TLR5-
-
-
-
5Amp-
TMCC2-
-
-
-
5Amp-
TMCO1-
-
-
-
4Gain-
TMEM183A-
-
-
-
5Amp-
TMEM206-
-
-
-
5Amp-
TMEM63A-
-
-
-
5Amp-
TMEM79-
-
-
-
4Gain-
TMEM81-
-
-
-
5Amp-
TMEM9-
-
-
-
5Amp-
TMOD4-
-
-
-
4Gain-
TNFAIP8L2-
-
-
-
4Gain-
TNFSF18-
-
-
-
4Gain-
TNFSF4-
-
-
-
4Gain-
TNN-
-
-
-
4Gain-
TNNI1-
-
-
-
5Amp-
TNNT2-
-
-
-
5Amp-
TNR-
-
-
-
4Gain-
TOMM20-
-
-
-
5Amp-
TOMM40L-
-
-
-
4Gain-
TOR1AIP1-
-
-
-
4Gain-
TOR1AIP2-
-
-
-
4Gain-
TOR3A-
-
-
-
4Gain-
TP53BP2-
-
-
-
5Amp-
TPM3-
-
-
-
4Gain-
TPR-
-
-
-
5Amp-
TRAF3IP3-
-
-
-
5Amp-
TRAF5-
-
-
-
5Amp-
TRIM11-
-
-
-
5Amp-
TRIM17-
-
-
-
5Amp-
TRIM46-
-
-
-
4Gain-
TRIM58-
-
-
-
5Amp-
TRIM67p.G136S
Missense
SNP
0.269
5Amp-
TRMT1L-
-
-
-
5Amp-
TROVE2-
-
-
-
5Amp-
TSACC-
-
-
-
4Gain-
TSEN15-
-
-
-
5Amp-
TSNAX-
-
-
-
5Amp-
TSNAX-DISC1-
-
-
-
5Amp-
TSTD1-
-
-
-
4Gain-
TTC13-
-
-
-
5Amp-
TTC24-
-
-
-
4Gain-
TUFT1-
-
-
-
4Gain-
TXNIP-
-
-
-
5Amp-
UAP1-
-
-
-
4Gain-
UBAP2L-
-
-
-
4Gain-
UBE2Q1-
-
-
-
4Gain-
UBE2T-
-
-
-
5Amp-
UBQLN4-
-
-
-
4Gain-
UCHL5-
-
-
-
5Amp-
UCK2-
-
-
-
4Gain-
UFC1-
-
-
-
4Gain-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UHMK1-
-
-
-
4Gain-
URB2-
-
-
-
5Amp-
USF1-
-
-
-
4Gain-
USH2A-
-
-
-
5Amp-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP21-
-
-
-
4Gain-
UTP25-
-
-
-
5Amp-
VAMP4-
-
-
-
4Gain-
VANGL2-
-
-
-
4Gain-
VASH2-
-
-
-
5Amp-
VHLL-
-
-
-
4Gain-
VPS45-
-
-
-
4Gain-
VPS72-
-
-
-
4Gain-
VSIG8-
-
-
-
4Gain-
WDR26-
-
-
-
5Amp-
WDR64-
-
-
-
5Amp-
WNT3A-
-
-
-
5Amp-
WNT9A-
-
-
-
5Amp-
XCL1-
-
-
-
4Gain-
XCL2-
-
-
-
4Gain-
XPR1-
-
-
-
5Amp-
YOD1-
-
-
-
5Amp-
YY1AP1-
-
-
-
4Gain-
ZBED6-
-
-
-
5Amp-
ZBTB18-
-
-
-
5Amp-
ZBTB37-
-
-
-
4Gain-
ZBTB41-
-
-
-
5Amp-
ZBTB7B-
-
-
-
4Gain-
ZC3H11A-
-
-
-
5Amp-
ZNF124-
-
-
-
5Amp-
ZNF281-
-
-
-
5Amp-
ZNF496-
-
-
-
5Amp-
ZNF648-
-
-
-
5Amp-
ZNF669-
-
-
-
5Amp-
ZNF670-
-
-
-
5Amp-
ZNF670-ZNF695-
-
-
-
5Amp-
ZNF672-
-
-
-
5Amp-
ZNF678-
-
-
-
5Amp-
ZNF687-
-
-
-
4Gain-
ZNF692-
-
-
-
5Amp-
ZNF695-
-
-
-
5Amp-
ZP4-
-
-
-
5Amp-