If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
468
|
233
|
2225
|
114
|
54
|
3094
|
Gene and significance breakdown #
Total genes and gene combinations: 907
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
BRCA2
|
45
|
4
|
48
|
2
|
19
|
118
|
APC
|
3
|
0 |
54
|
7
|
3
|
67
|
BRCA1
|
35
|
3
|
19
|
1
|
2
|
60
|
SLX4
|
1
|
1
|
49
|
0 |
1
|
52
|
ATM
|
7
|
0 |
38
|
5
|
1
|
51
|
RECQL4
|
0 |
0 |
47
|
1
|
1
|
49
|
MSH6
|
7
|
1
|
33
|
3
|
1
|
45
|
TSC2
|
2
|
0 |
32
|
9
|
0 |
43
|
NF1
|
10
|
2
|
24
|
3
|
0 |
39
|
POLE
|
1
|
1
|
37
|
0 |
0 |
39
|
CHEK2
|
6
|
7
|
22
|
1
|
1
|
37
|
FANCM
|
2
|
0 |
33
|
1
|
0 |
36
|
FANCA
|
2
|
3
|
26
|
2
|
0 |
33
|
PALB2
|
8
|
2
|
19
|
3
|
0 |
32
|
BRIP1
|
3
|
2
|
21
|
4
|
0 |
30
|
MLH1
|
11
|
1
|
13
|
4
|
1
|
30
|
ATM, C11orf65
|
4
|
2
|
21
|
1
|
0 |
28
|
ERCC2
|
4
|
1
|
22
|
1
|
0 |
28
|
PMS2
|
1
|
1
|
22
|
2
|
1
|
27
|
BLM
|
2
|
1
|
21
|
1
|
1
|
26
|
MUTYH
|
4
|
2
|
18
|
1
|
0 |
25
|
TP53
|
12
|
4
|
6
|
1
|
2
|
25
|
BARD1
|
4
|
3
|
15
|
2
|
0 |
24
|
ERCC4
|
0 |
0 |
22
|
1
|
0 |
23
|
MSH2
|
7
|
2
|
12
|
0 |
2
|
23
|
BIVM-ERCC5, ERCC5
|
0 |
0 |
20
|
2
|
0 |
22
|
DICER1
|
0 |
0 |
22
|
0 |
0 |
22
|
KIF1B
|
0 |
0 |
21
|
0 |
0 |
21
|
CDH1
|
1
|
0 |
15
|
3
|
1
|
20
|
RET
|
2
|
0 |
16
|
1
|
0 |
19
|
FANCI
|
0 |
0 |
18
|
0 |
0 |
18
|
NSD1
|
1
|
0 |
17
|
0 |
0 |
18
|
POLD1
|
0 |
0 |
16
|
2
|
0 |
18
|
RAD51C
|
3
|
1
|
10
|
4
|
0 |
18
|
LZTR1
|
3
|
3
|
11
|
0 |
0 |
17
|
MET
|
0 |
0 |
17
|
0 |
0 |
17
|
SMARCA4
|
0 |
0 |
15
|
2
|
0 |
17
|
TSC1
|
0 |
0 |
14
|
3
|
0 |
17
|
WRN
|
2
|
0 |
14
|
0 |
1
|
17
|
FLCN
|
3
|
0 |
12
|
1
|
0 |
16
|
KIT
|
0 |
0 |
16
|
0 |
0 |
16
|
MSH3
|
2
|
0 |
13
|
1
|
0 |
16
|
NBN
|
3
|
0 |
12
|
0 |
1
|
16
|
SDHA
|
2
|
3
|
11
|
0 |
0 |
16
|
FANCD2, LOC107303338
|
0 |
0 |
14
|
0 |
1
|
15
|
ERCC3
|
0 |
0 |
14
|
0 |
0 |
14
|
PTCH1
|
0 |
1
|
12
|
1
|
0 |
14
|
XPC
|
2
|
0 |
12
|
0 |
0 |
14
|
BAP1
|
0 |
0 |
13
|
0 |
0 |
13
|
EGFR
|
0 |
0 |
13
|
0 |
0 |
13
|
FANCE
|
1
|
0 |
9
|
3
|
0 |
13
|
ALK
|
0 |
0 |
10
|
0 |
1
|
11
|
FANCA, ZNF276
|
2
|
1
|
8
|
0 |
0 |
11
|
GALNT12
|
0 |
1
|
9
|
0 |
1
|
11
|
RAD50
|
1
|
0 |
10
|
0 |
0 |
11
|
RHBDF2
|
0 |
0 |
10
|
1
|
0 |
11
|
DIS3L2
|
0 |
0 |
8
|
1
|
1
|
10
|
FANCG
|
1
|
0 |
9
|
0 |
0 |
10
|
MRE11
|
0 |
1
|
9
|
0 |
0 |
10
|
RINT1
|
0 |
0 |
10
|
0 |
0 |
10
|
AOPEP, FANCC
|
0 |
0 |
8
|
0 |
1
|
9
|
EXT2
|
0 |
2
|
7
|
0 |
0 |
9
|
FANCB
|
0 |
0 |
8
|
1
|
0 |
9
|
FANCF
|
0 |
0 |
9
|
0 |
0 |
9
|
FH
|
1
|
1
|
7
|
0 |
0 |
9
|
MEN1
|
0 |
0 |
7
|
2
|
0 |
9
|
NTHL1
|
2
|
2
|
5
|
0 |
0 |
9
|
PDGFRA
|
0 |
0 |
9
|
0 |
0 |
9
|
RAD51D, RAD51L3-RFFL
|
2
|
2
|
4
|
1
|
0 |
9
|
RB1
|
3
|
0 |
4
|
2
|
0 |
9
|
RNF43
|
0 |
2
|
7
|
0 |
0 |
9
|
TERT
|
0 |
0 |
9
|
0 |
0 |
9
|
XPA
|
1
|
0 |
8
|
0 |
0 |
9
|
AIP
|
0 |
0 |
8
|
0 |
0 |
8
|
BRCA1, LOC126862571
|
7
|
0 |
0 |
0 |
1
|
8
|
DDB2
|
1
|
1
|
5
|
1
|
0 |
8
|
AUTS2
|
1
|
0 |
6
|
0 |
0 |
7
|
BUB1B
|
0 |
0 |
7
|
0 |
0 |
7
|
COL7A1
|
2
|
1
|
4
|
0 |
0 |
7
|
DMD
|
1
|
0 |
6
|
0 |
0 |
7
|
ERBB2
|
0 |
0 |
7
|
0 |
0 |
7
|
PTEN
|
1
|
1
|
3
|
2
|
0 |
7
|
RYR1
|
1
|
2
|
4
|
0 |
0 |
7
|
SDHB
|
1
|
2
|
3
|
1
|
0 |
7
|
SMAD4
|
1
|
0 |
6
|
0 |
0 |
7
|
SUFU
|
0 |
0 |
7
|
0 |
0 |
7
|
VPS13B
|
2
|
1
|
4
|
0 |
0 |
7
|
BMPR1A
|
0 |
0 |
6
|
0 |
0 |
6
|
CASR
|
0 |
0 |
6
|
0 |
0 |
6
|
CDKN2A
|
0 |
0 |
5
|
0 |
1
|
6
|
CFTR
|
3
|
1
|
2
|
0 |
0 |
6
|
COL3A1
|
3
|
2
|
1
|
0 |
0 |
6
|
FBN1
|
1
|
1
|
4
|
0 |
0 |
6
|
LOC100507346, PTCH1
|
0 |
0 |
5
|
1
|
0 |
6
|
MITF
|
0 |
0 |
6
|
0 |
0 |
6
|
NF2
|
0 |
0 |
6
|
0 |
0 |
6
|
POLG, POLGARF
|
2
|
3
|
1
|
0 |
0 |
6
|
SCN8A
|
0 |
2
|
4
|
0 |
0 |
6
|
ACD
|
0 |
0 |
5
|
0 |
0 |
5
|
ARID1B
|
2
|
1
|
1
|
1
|
0 |
5
|
AXIN2
|
0 |
0 |
4
|
1
|
0 |
5
|
CDH23
|
0 |
1
|
3
|
0 |
1
|
5
|
CEBPA
|
0 |
0 |
4
|
0 |
1
|
5
|
DEPDC5
|
1
|
0 |
4
|
0 |
0 |
5
|
EPCAM
|
0 |
0 |
4
|
1
|
0 |
5
|
ERCC1
|
0 |
0 |
5
|
0 |
0 |
5
|
EXT1
|
1
|
0 |
3
|
1
|
0 |
5
|
GATA2
|
0 |
0 |
5
|
0 |
0 |
5
|
GRIN2A
|
0 |
1
|
4
|
0 |
0 |
5
|
IFIH1
|
1
|
1
|
3
|
0 |
0 |
5
|
LOC107982234, WT1
|
0 |
0 |
5
|
0 |
0 |
5
|
MLH3
|
0 |
0 |
5
|
0 |
0 |
5
|
PRF1
|
0 |
0 |
5
|
0 |
0 |
5
|
SCN2A
|
1
|
2
|
2
|
0 |
0 |
5
|
SDHC
|
0 |
0 |
4
|
1
|
0 |
5
|
SETD1A
|
0 |
1
|
4
|
0 |
0 |
5
|
SPG11
|
1
|
2
|
2
|
0 |
0 |
5
|
TAF2
|
0 |
1
|
4
|
0 |
0 |
5
|
ANKRD11
|
2
|
1
|
1
|
0 |
0 |
4
|
ATP7B
|
2
|
2
|
0 |
0 |
0 |
4
|
BRWD3
|
0 |
1
|
3
|
0 |
0 |
4
|
CD36
|
2
|
0 |
2
|
0 |
0 |
4
|
CDKN1B
|
0 |
0 |
4
|
0 |
0 |
4
|
CHD3
|
1
|
2
|
1
|
0 |
0 |
4
|
DHFR, MSH3
|
0 |
0 |
3
|
1
|
0 |
4
|
DLST
|
0 |
0 |
4
|
0 |
0 |
4
|
DNAH9
|
0 |
0 |
4
|
0 |
0 |
4
|
EPG5
|
0 |
2
|
2
|
0 |
0 |
4
|
FANCC
|
0 |
0 |
4
|
0 |
0 |
4
|
FANCL
|
1
|
0 |
3
|
0 |
0 |
4
|
GALC
|
0 |
1
|
3
|
0 |
0 |
4
|
KMT2B
|
0 |
1
|
3
|
0 |
0 |
4
|
LDLR
|
2
|
2
|
0 |
0 |
0 |
4
|
LOC107303340, VHL
|
2
|
0 |
2
|
0 |
0 |
4
|
MAGEL2
|
0 |
0 |
3
|
1
|
0 |
4
|
MED13L
|
1
|
1
|
2
|
0 |
0 |
4
|
NLRP1
|
0 |
0 |
4
|
0 |
0 |
4
|
NOTCH1
|
0 |
0 |
4
|
0 |
0 |
4
|
OFD1
|
0 |
0 |
4
|
0 |
0 |
4
|
PHOX2B
|
0 |
0 |
4
|
0 |
0 |
4
|
PIK3R2
|
0 |
0 |
4
|
0 |
0 |
4
|
PLCG2
|
0 |
0 |
4
|
0 |
0 |
4
|
POLR3B
|
2
|
2
|
0 |
0 |
0 |
4
|
PRKN
|
0 |
0 |
4
|
0 |
0 |
4
|
RELN
|
0 |
1
|
3
|
0 |
0 |
4
|
TBR1
|
0 |
2
|
2
|
0 |
0 |
4
|
TCF4
|
1
|
1
|
2
|
0 |
0 |
4
|
VHL
|
1
|
0 |
2
|
1
|
0 |
4
|
ABCA4
|
1
|
0 |
2
|
0 |
0 |
3
|
ADAMTSL2
|
0 |
0 |
2
|
1
|
0 |
3
|
AKT1
|
0 |
0 |
2
|
1
|
0 |
3
|
APOB
|
1
|
0 |
2
|
0 |
0 |
3
|
ARID1A
|
0 |
0 |
3
|
0 |
0 |
3
|
BRAF
|
0 |
1
|
2
|
0 |
0 |
3
|
CASP10
|
0 |
0 |
3
|
0 |
0 |
3
|
CDK4
|
0 |
0 |
3
|
0 |
0 |
3
|
CFH
|
0 |
0 |
3
|
0 |
0 |
3
|
CHD7
|
2
|
0 |
1
|
0 |
0 |
3
|
CNOT3
|
0 |
2
|
1
|
0 |
0 |
3
|
COL4A1
|
0 |
1
|
2
|
0 |
0 |
3
|
COL5A1
|
0 |
1
|
1
|
1
|
0 |
3
|
CTRC
|
0 |
0 |
3
|
0 |
0 |
3
|
CUBN
|
0 |
0 |
3
|
0 |
0 |
3
|
DSP
|
0 |
0 |
3
|
0 |
0 |
3
|
DYNC1H1
|
0 |
1
|
2
|
0 |
0 |
3
|
EBF3
|
1
|
0 |
2
|
0 |
0 |
3
|
ERCC4, LOC130058543
|
0 |
0 |
3
|
0 |
0 |
3
|
FANCA, LOC112486223
|
0 |
0 |
3
|
0 |
0 |
3
|
FANCE, LOC129996245
|
0 |
0 |
3
|
0 |
0 |
3
|
FBXL4
|
0 |
1
|
2
|
0 |
0 |
3
|
FGFR1
|
0 |
0 |
3
|
0 |
0 |
3
|
FGFR3
|
1
|
0 |
2
|
0 |
0 |
3
|
FOXP1
|
1
|
2
|
0 |
0 |
0 |
3
|
FRMPD4
|
0 |
1
|
2
|
0 |
0 |
3
|
GNAO1
|
1
|
1
|
1
|
0 |
0 |
3
|
GPC3
|
0 |
0 |
3
|
0 |
0 |
3
|
GRIN1
|
0 |
0 |
3
|
0 |
0 |
3
|
GRIN2D
|
0 |
0 |
3
|
0 |
0 |
3
|
HNF1A
|
0 |
0 |
3
|
0 |
0 |
3
|
HOXB13
|
0 |
1
|
2
|
0 |
0 |
3
|
INSL6, JAK2
|
0 |
0 |
3
|
0 |
0 |
3
|
KCNQ1
|
0 |
1
|
2
|
0 |
0 |
3
|
KCNQ5, KCNQ5-DT, LOC129996711
|
0 |
0 |
3
|
0 |
0 |
3
|
KIF1A
|
1
|
1
|
1
|
0 |
0 |
3
|
LOC130002133, PTCH1
|
0 |
0 |
2
|
0 |
1
|
3
|
LOC130004614, SUFU
|
0 |
0 |
3
|
0 |
0 |
3
|
LONP1
|
0 |
0 |
3
|
0 |
0 |
3
|
LOXHD1
|
1
|
0 |
1
|
1
|
0 |
3
|
MDH2
|
0 |
0 |
3
|
0 |
0 |
3
|
NEXMIF
|
1
|
0 |
2
|
0 |
0 |
3
|
NOD2
|
0 |
0 |
3
|
0 |
0 |
3
|
PAH
|
1
|
0 |
2
|
0 |
0 |
3
|
PCNT
|
0 |
0 |
3
|
0 |
0 |
3
|
PIGO
|
0 |
0 |
3
|
0 |
0 |
3
|
PIK3CA
|
1
|
1
|
1
|
0 |
0 |
3
|
PRMT7
|
2
|
0 |
1
|
0 |
0 |
3
|
PUM1
|
0 |
1
|
2
|
0 |
0 |
3
|
RAB3GAP2
|
1
|
2
|
0 |
0 |
0 |
3
|
RAD50, TH2LCRR
|
0 |
0 |
3
|
0 |
0 |
3
|
RUNX1
|
0 |
0 |
3
|
0 |
0 |
3
|
RYR2
|
0 |
1
|
2
|
0 |
0 |
3
|
SAMD9L
|
1
|
0 |
2
|
0 |
0 |
3
|
SCN1A
|
0 |
2
|
1
|
0 |
0 |
3
|
SDHAF2
|
0 |
0 |
2
|
1
|
0 |
3
|
SIN3A
|
1
|
0 |
2
|
0 |
0 |
3
|
SMPD1
|
0 |
0 |
3
|
0 |
0 |
3
|
STK11
|
0 |
0 |
2
|
1
|
0 |
3
|
TAOK1
|
1
|
0 |
2
|
0 |
0 |
3
|
TNFAIP3
|
0 |
1
|
2
|
0 |
0 |
3
|
TRIOBP
|
0 |
0 |
2
|
1
|
0 |
3
|
WNT10A
|
1
|
0 |
2
|
0 |
0 |
3
|
XRCC2
|
0 |
0 |
3
|
0 |
0 |
3
|
ZDHHC9
|
0 |
2
|
1
|
0 |
0 |
3
|
ABCA3
|
0 |
0 |
2
|
0 |
0 |
2
|
ABCA7
|
0 |
0 |
2
|
0 |
0 |
2
|
ABCG8
|
0 |
1
|
1
|
0 |
0 |
2
|
ACADM
|
2
|
0 |
0 |
0 |
0 |
2
|
ACADS
|
1
|
0 |
0 |
0 |
1
|
2
|
ACAT1
|
0 |
1
|
1
|
0 |
0 |
2
|
ACTB
|
2
|
0 |
0 |
0 |
0 |
2
|
ACTC1, GJD2-DT
|
0 |
0 |
2
|
0 |
0 |
2
|
ACVRL1
|
2
|
0 |
0 |
0 |
0 |
2
|
ADAMTSL4
|
2
|
0 |
0 |
0 |
0 |
2
|
ALG1
|
0 |
0 |
2
|
0 |
0 |
2
|
ALG2
|
0 |
0 |
2
|
0 |
0 |
2
|
AMPD3
|
0 |
0 |
2
|
0 |
0 |
2
|
ANK2
|
0 |
0 |
2
|
0 |
0 |
2
|
ANK3
|
0 |
0 |
2
|
0 |
0 |
2
|
APC2
|
0 |
0 |
2
|
0 |
0 |
2
|
ARID2
|
0 |
0 |
2
|
0 |
0 |
2
|
ARMC5
|
1
|
0 |
1
|
0 |
0 |
2
|
ARSA
|
1
|
0 |
1
|
0 |
0 |
2
|
ASPM
|
1
|
0 |
1
|
0 |
0 |
2
|
ASXL3
|
0 |
1
|
1
|
0 |
0 |
2
|
ATL1
|
0 |
0 |
2
|
0 |
0 |
2
|
ATN1, LOC109461484
|
0 |
0 |
2
|
0 |
0 |
2
|
ATP1A2
|
0 |
1
|
1
|
0 |
0 |
2
|
ATP1A3
|
1
|
0 |
1
|
0 |
0 |
2
|
ATP7A
|
2
|
0 |
0 |
0 |
0 |
2
|
ATRIP, ATRIP-TREX1, TREX1
|
2
|
0 |
0 |
0 |
0 |
2
|
BCS1L
|
1
|
0 |
1
|
0 |
0 |
2
|
BICD2
|
0 |
0 |
2
|
0 |
0 |
2
|
BICRA
|
0 |
0 |
2
|
0 |
0 |
2
|
BIVM-ERCC5, ERCC5, LOC126861834
|
0 |
0 |
2
|
0 |
0 |
2
|
BLTP1
|
0 |
0 |
2
|
0 |
0 |
2
|
BRAT1
|
1
|
1
|
0 |
0 |
0 |
2
|
BRF1
|
0 |
0 |
2
|
0 |
0 |
2
|
BTD
|
2
|
0 |
0 |
0 |
0 |
2
|
BUB1B, BUB1B-PAK6
|
0 |
0 |
2
|
0 |
0 |
2
|
CACNA1A
|
0 |
0 |
2
|
0 |
0 |
2
|
CAPN3
|
0 |
1
|
1
|
0 |
0 |
2
|
CASK
|
0 |
1
|
1
|
0 |
0 |
2
|
CAST, LOC101929710, PCSK1
|
0 |
1
|
1
|
0 |
0 |
2
|
CBS
|
2
|
0 |
0 |
0 |
0 |
2
|
CCDC40
|
1
|
0 |
1
|
0 |
0 |
2
|
CCDC88C
|
0 |
0 |
2
|
0 |
0 |
2
|
CCDST, FLG
|
1
|
0 |
1
|
0 |
0 |
2
|
CDH15
|
0 |
0 |
2
|
0 |
0 |
2
|
CDK13
|
0 |
0 |
2
|
0 |
0 |
2
|
CDKL5
|
0 |
0 |
2
|
0 |
0 |
2
|
CEP290
|
2
|
0 |
0 |
0 |
0 |
2
|
CHD2
|
1
|
1
|
0 |
0 |
0 |
2
|
CLASP1, RNU4ATAC
|
2
|
0 |
0 |
0 |
0 |
2
|
CLTC
|
0 |
0 |
2
|
0 |
0 |
2
|
COL2A1
|
1
|
0 |
1
|
0 |
0 |
2
|
COL5A2
|
0 |
0 |
2
|
0 |
0 |
2
|
COL6A2
|
0 |
0 |
1
|
1
|
0 |
2
|
COL6A3
|
0 |
1
|
1
|
0 |
0 |
2
|
CTNNA1
|
0 |
1
|
1
|
0 |
0 |
2
|
CYP21A2, LOC106780800
|
2
|
0 |
0 |
0 |
0 |
2
|
DAG1
|
0 |
1
|
1
|
0 |
0 |
2
|
DLG3
|
1
|
0 |
1
|
0 |
0 |
2
|
DNAH5
|
1
|
0 |
1
|
0 |
0 |
2
|
DOCK6
|
2
|
0 |
0 |
0 |
0 |
2
|
DSG1
|
0 |
0 |
2
|
0 |
0 |
2
|
EFHC1
|
0 |
0 |
2
|
0 |
0 |
2
|
EHMT1
|
2
|
0 |
0 |
0 |
0 |
2
|
ELAC2
|
0 |
0 |
2
|
0 |
0 |
2
|
ENTPD1
|
0 |
0 |
2
|
0 |
0 |
2
|
EP300
|
1
|
1
|
0 |
0 |
0 |
2
|
EZH2
|
0 |
0 |
2
|
0 |
0 |
2
|
FANCD2
|
0 |
0 |
2
|
0 |
0 |
2
|
FANCD2, FANCD2OS
|
0 |
0 |
2
|
0 |
0 |
2
|
FARS2
|
0 |
0 |
2
|
0 |
0 |
2
|
FAS
|
1
|
1
|
0 |
0 |
0 |
2
|
FAT2, SLC36A1
|
0 |
0 |
2
|
0 |
0 |
2
|
FAT4
|
0 |
0 |
2
|
0 |
0 |
2
|
FBXO11, LOC100506235
|
0 |
0 |
2
|
0 |
0 |
2
|
FLNA
|
0 |
1
|
1
|
0 |
0 |
2
|
FTCD
|
1
|
0 |
1
|
0 |
0 |
2
|
G6PD
|
2
|
0 |
0 |
0 |
0 |
2
|
GJB2
|
2
|
0 |
0 |
0 |
0 |
2
|
GLI2
|
1
|
0 |
1
|
0 |
0 |
2
|
HCN1
|
1
|
0 |
1
|
0 |
0 |
2
|
HCN2
|
0 |
0 |
2
|
0 |
0 |
2
|
HK1
|
1
|
0 |
1
|
0 |
0 |
2
|
IDS, LOC106050102
|
0 |
0 |
2
|
0 |
0 |
2
|
IQSEC2
|
0 |
0 |
2
|
0 |
0 |
2
|
IRAK1BP1, PHIP
|
0 |
0 |
2
|
0 |
0 |
2
|
ITSN1
|
0 |
1
|
1
|
0 |
0 |
2
|
KAT6A
|
1
|
0 |
1
|
0 |
0 |
2
|
KCNB1
|
1
|
0 |
1
|
0 |
0 |
2
|
KCND3
|
0 |
0 |
2
|
0 |
0 |
2
|
KCNT1
|
1
|
0 |
1
|
0 |
0 |
2
|
KDM5B
|
2
|
0 |
0 |
0 |
0 |
2
|
KDM6B
|
1
|
0 |
1
|
0 |
0 |
2
|
KIF1B, LOC126805614
|
0 |
0 |
2
|
0 |
0 |
2
|
KIF21A
|
1
|
0 |
1
|
0 |
0 |
2
|
KMT2C
|
0 |
1
|
1
|
0 |
0 |
2
|
KMT2D
|
1
|
0 |
1
|
0 |
0 |
2
|
LAMB1
|
1
|
0 |
1
|
0 |
0 |
2
|
LNPK
|
0 |
0 |
2
|
0 |
0 |
2
|
LOC102724058, SCN1A
|
1
|
0 |
1
|
0 |
0 |
2
|
LOC126860342, WRN
|
0 |
0 |
1
|
1
|
0 |
2
|
LOC126861339, SDHD
|
1
|
0 |
0 |
1
|
0 |
2
|
LOC130009266, POLE
|
0 |
0 |
2
|
0 |
0 |
2
|
LOC130055850, MAX
|
0 |
0 |
2
|
0 |
0 |
2
|
LPP
|
0 |
0 |
2
|
0 |
0 |
2
|
MAP3K1
|
0 |
0 |
2
|
0 |
0 |
2
|
MAST1
|
1
|
0 |
1
|
0 |
0 |
2
|
MBTPS1
|
0 |
1
|
1
|
0 |
0 |
2
|
MCM3AP
|
0 |
1
|
1
|
0 |
0 |
2
|
MED12
|
0 |
0 |
2
|
0 |
0 |
2
|
MED13
|
0 |
1
|
1
|
0 |
0 |
2
|
MN1
|
0 |
1
|
0 |
0 |
1
|
2
|
MUSK
|
0 |
0 |
2
|
0 |
0 |
2
|
MVK
|
0 |
0 |
2
|
0 |
0 |
2
|
MYO15A
|
0 |
0 |
2
|
0 |
0 |
2
|
MYO7A
|
0 |
0 |
2
|
0 |
0 |
2
|
NFKB1
|
0 |
0 |
2
|
0 |
0 |
2
|
NFKB2
|
0 |
0 |
2
|
0 |
0 |
2
|
NIPBL
|
1
|
0 |
1
|
0 |
0 |
2
|
NLRP3
|
1
|
0 |
1
|
0 |
0 |
2
|
NOTCH3
|
0 |
1
|
1
|
0 |
0 |
2
|
NPC1
|
1
|
0 |
1
|
0 |
0 |
2
|
NSD2
|
0 |
1
|
1
|
0 |
0 |
2
|
NSUN2
|
1
|
0 |
1
|
0 |
0 |
2
|
OBSL1
|
0 |
0 |
2
|
0 |
0 |
2
|
OTOA
|
1
|
1
|
0 |
0 |
0 |
2
|
PACS1
|
0 |
1
|
1
|
0 |
0 |
2
|
PAX9
|
0 |
0 |
2
|
0 |
0 |
2
|
PCCB
|
0 |
0 |
2
|
0 |
0 |
2
|
PCSK9
|
0 |
1
|
1
|
0 |
0 |
2
|
PEX12
|
1
|
1
|
0 |
0 |
0 |
2
|
PGK1
|
0 |
0 |
2
|
0 |
0 |
2
|
PHIP
|
0 |
2
|
0 |
0 |
0 |
2
|
PHKA1
|
0 |
0 |
2
|
0 |
0 |
2
|
PHKA2
|
0 |
0 |
2
|
0 |
0 |
2
|
PHYH
|
1
|
0 |
1
|
0 |
0 |
2
|
PIGA
|
0 |
1
|
1
|
0 |
0 |
2
|
PKD1
|
1
|
0 |
1
|
0 |
0 |
2
|
PLEC
|
0 |
0 |
2
|
0 |
0 |
2
|
POLA1
|
0 |
0 |
2
|
0 |
0 |
2
|
POLR3A
|
0 |
0 |
2
|
0 |
0 |
2
|
POMC
|
0 |
0 |
1
|
0 |
1
|
2
|
POU3F3
|
0 |
0 |
2
|
0 |
0 |
2
|
PSTPIP1
|
0 |
0 |
1
|
1
|
0 |
2
|
PTPN11
|
2
|
0 |
0 |
0 |
0 |
2
|
PUF60
|
0 |
1
|
1
|
0 |
0 |
2
|
RELA
|
0 |
0 |
2
|
0 |
0 |
2
|
RNF213
|
0 |
0 |
2
|
0 |
0 |
2
|
ROBO3
|
0 |
0 |
2
|
0 |
0 |
2
|
RP1L1
|
0 |
0 |
2
|
0 |
0 |
2
|
SAMD9
|
0 |
0 |
2
|
0 |
0 |
2
|
SATB1
|
1
|
0 |
1
|
0 |
0 |
2
|
SBF1
|
0 |
0 |
2
|
0 |
0 |
2
|
SDHD
|
1
|
1
|
0 |
0 |
0 |
2
|
SKI
|
1
|
0 |
1
|
0 |
0 |
2
|
SLC26A2
|
0 |
2
|
0 |
0 |
0 |
2
|
SLC2A1
|
0 |
1
|
1
|
0 |
0 |
2
|
SMARCA2
|
0 |
1
|
1
|
0 |
0 |
2
|
SMO
|
0 |
0 |
2
|
0 |
0 |
2
|
SON
|
1
|
0 |
1
|
0 |
0 |
2
|
SOX5
|
0 |
0 |
2
|
0 |
0 |
2
|
SPINK1
|
0 |
0 |
2
|
0 |
0 |
2
|
SPTBN1
|
0 |
0 |
2
|
0 |
0 |
2
|
STIM1
|
0 |
0 |
2
|
0 |
0 |
2
|
STX1B
|
1
|
0 |
1
|
0 |
0 |
2
|
TAF1
|
0 |
0 |
2
|
0 |
0 |
2
|
TANC2
|
0 |
0 |
2
|
0 |
0 |
2
|
TBX6
|
0 |
1
|
1
|
0 |
0 |
2
|
TG
|
0 |
0 |
2
|
0 |
0 |
2
|
TMEM127
|
0 |
0 |
2
|
0 |
0 |
2
|
TNXB
|
0 |
0 |
2
|
0 |
0 |
2
|
TRAK1
|
1
|
0 |
1
|
0 |
0 |
2
|
TRIM2
|
0 |
0 |
2
|
0 |
0 |
2
|
UBA1
|
0 |
0 |
2
|
0 |
0 |
2
|
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
|
2
|
0 |
0 |
0 |
0 |
2
|
USH2A
|
1
|
0 |
1
|
0 |
0 |
2
|
YAP1
|
0 |
0 |
2
|
0 |
0 |
2
|
ZBTB18
|
0 |
2
|
0 |
0 |
0 |
2
|
ZNF142
|
0 |
0 |
2
|
0 |
0 |
2
|
intergenic
|
0 |
0 |
1
|
0 |
0 |
1
|
A2ML1
|
0 |
0 |
1
|
0 |
0 |
1
|
ABAT
|
0 |
0 |
1
|
0 |
0 |
1
|
ABCC8
|
0 |
0 |
1
|
0 |
0 |
1
|
ACOX1
|
0 |
0 |
1
|
0 |
0 |
1
|
ACSL4
|
0 |
0 |
1
|
0 |
0 |
1
|
ACTG1
|
0 |
0 |
1
|
0 |
0 |
1
|
ACTL6B
|
0 |
1
|
0 |
0 |
0 |
1
|
ADNP
|
0 |
0 |
1
|
0 |
0 |
1
|
AFF2
|
0 |
0 |
1
|
0 |
0 |
1
|
AFG2A
|
0 |
0 |
1
|
0 |
0 |
1
|
AFG3L2
|
0 |
0 |
1
|
0 |
0 |
1
|
AGO1
|
0 |
1
|
0 |
0 |
0 |
1
|
AHI1
|
1
|
0 |
0 |
0 |
0 |
1
|
ANKRD17
|
0 |
0 |
1
|
0 |
0 |
1
|
ANO3
|
0 |
0 |
1
|
0 |
0 |
1
|
ANO5
|
1
|
0 |
0 |
0 |
0 |
1
|
AP3B2, CPEB1
|
0 |
0 |
1
|
0 |
0 |
1
|
AP4B1
|
1
|
0 |
0 |
0 |
0 |
1
|
AP4B1, PTPN22
|
0 |
0 |
1
|
0 |
0 |
1
|
AQP2
|
0 |
0 |
1
|
0 |
0 |
1
|
ARFGEF1-DT, CPA6
|
0 |
0 |
1
|
0 |
0 |
1
|
ARHGAP31
|
0 |
0 |
1
|
0 |
0 |
1
|
ARHGEF10
|
0 |
0 |
1
|
0 |
0 |
1
|
ARID1A, LOC126805670
|
0 |
0 |
1
|
0 |
0 |
1
|
ARIH1
|
0 |
0 |
1
|
0 |
0 |
1
|
ARL3
|
0 |
0 |
1
|
0 |
0 |
1
|
ARX
|
0 |
0 |
1
|
0 |
0 |
1
|
ASH1L
|
0 |
0 |
1
|
0 |
0 |
1
|
ASXL2
|
0 |
0 |
1
|
0 |
0 |
1
|
ATP11A
|
0 |
0 |
1
|
0 |
0 |
1
|
ATP2B2
|
0 |
0 |
1
|
0 |
0 |
1
|
ATP2B3
|
0 |
0 |
1
|
0 |
0 |
1
|
ATRX
|
0 |
0 |
1
|
0 |
0 |
1
|
ATXN3, LOC108663987
|
0 |
0 |
1
|
0 |
0 |
1
|
B3GAT3
|
0 |
0 |
1
|
0 |
0 |
1
|
B3GLCT
|
1
|
0 |
0 |
0 |
0 |
1
|
BBS7
|
1
|
0 |
0 |
0 |
0 |
1
|
BCORL1
|
0 |
0 |
1
|
0 |
0 |
1
|
BPTF
|
0 |
0 |
0 |
0 |
1
|
1
|
C2
|
1
|
0 |
0 |
0 |
0 |
1
|
C2CD3
|
0 |
0 |
1
|
0 |
0 |
1
|
C7
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1C
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1D
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1E
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1F
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1F, LOC126863257
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1G
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1H
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1I
|
0 |
0 |
1
|
0 |
0 |
1
|
CAMK2B
|
0 |
0 |
1
|
0 |
0 |
1
|
CARD11
|
0 |
0 |
1
|
0 |
0 |
1
|
CBL
|
0 |
1
|
0 |
0 |
0 |
1
|
CC2D1A
|
0 |
0 |
1
|
0 |
0 |
1
|
CCDC107, RMRP
|
1
|
0 |
0 |
0 |
0 |
1
|
CCDC8
|
0 |
0 |
1
|
0 |
0 |
1
|
CCM2
|
0 |
0 |
1
|
0 |
0 |
1
|
CCND2
|
0 |
0 |
1
|
0 |
0 |
1
|
CCNH, RASA1
|
0 |
1
|
0 |
0 |
0 |
1
|
CD2AP
|
0 |
0 |
1
|
0 |
0 |
1
|
CDC73
|
0 |
0 |
0 |
1
|
0 |
1
|
CDH3
|
1
|
0 |
0 |
0 |
0 |
1
|
CDK4, LOC130008148
|
0 |
0 |
1
|
0 |
0 |
1
|
CDK4, TSPAN31
|
0 |
0 |
1
|
0 |
0 |
1
|
CDKN2A, LOC130001603
|
1
|
0 |
0 |
0 |
0 |
1
|
CELA2A
|
0 |
0 |
1
|
0 |
0 |
1
|
CEP152
|
0 |
0 |
1
|
0 |
0 |
1
|
CEP57
|
0 |
0 |
1
|
0 |
0 |
1
|
CEP85L, PLN
|
0 |
1
|
0 |
0 |
0 |
1
|
CERT1
|
0 |
0 |
1
|
0 |
0 |
1
|
CFHR3
|
0 |
0 |
1
|
0 |
0 |
1
|
CFI
|
0 |
0 |
1
|
0 |
0 |
1
|
CFP
|
0 |
0 |
1
|
0 |
0 |
1
|
CFTR, LOC111674472
|
1
|
0 |
0 |
0 |
0 |
1
|
CHAMP1
|
1
|
0 |
0 |
0 |
0 |
1
|
CHD1
|
0 |
0 |
1
|
0 |
0 |
1
|
CHD3, NAA38
|
0 |
0 |
1
|
0 |
0 |
1
|
CHD5
|
0 |
0 |
1
|
0 |
0 |
1
|
CHD8
|
0 |
0 |
1
|
0 |
0 |
1
|
CHRNA1
|
0 |
0 |
1
|
0 |
0 |
1
|
CLCN1
|
1
|
0 |
0 |
0 |
0 |
1
|
CLCN2
|
0 |
0 |
1
|
0 |
0 |
1
|
CNBP
|
0 |
0 |
1
|
0 |
0 |
1
|
CNKSR2
|
0 |
0 |
1
|
0 |
0 |
1
|
CNOT9
|
0 |
1
|
0 |
0 |
0 |
1
|
COA8
|
0 |
0 |
1
|
0 |
0 |
1
|
COG4
|
0 |
0 |
1
|
0 |
0 |
1
|
COL10A1, NT5DC1
|
1
|
0 |
0 |
0 |
0 |
1
|
COL12A1
|
0 |
0 |
1
|
0 |
0 |
1
|
COL18A1
|
0 |
0 |
1
|
0 |
0 |
1
|
COL27A1
|
0 |
0 |
1
|
0 |
0 |
1
|
COL5A1, LOC101448202
|
0 |
0 |
1
|
0 |
0 |
1
|
COQ2, LOC112997540
|
0 |
0 |
1
|
0 |
0 |
1
|
CPA6
|
0 |
0 |
1
|
0 |
0 |
1
|
CR2, LOC126805994
|
0 |
0 |
1
|
0 |
0 |
1
|
CREBBP
|
0 |
1
|
0 |
0 |
0 |
1
|
CRYAB
|
0 |
1
|
0 |
0 |
0 |
1
|
CSTB
|
1
|
0 |
0 |
0 |
0 |
1
|
CTLA4
|
0 |
0 |
1
|
0 |
0 |
1
|
CTNNB1, LOC126806658
|
1
|
0 |
0 |
0 |
0 |
1
|
CTTN-DT, PPFIA1
|
0 |
0 |
1
|
0 |
0 |
1
|
CUL4B
|
0 |
0 |
1
|
0 |
0 |
1
|
CUL7, LOC129996487
|
0 |
0 |
1
|
0 |
0 |
1
|
CXCR4
|
0 |
1
|
0 |
0 |
0 |
1
|
CYLD
|
0 |
0 |
1
|
0 |
0 |
1
|
CYP26B1
|
0 |
0 |
1
|
0 |
0 |
1
|
CYP7A1
|
0 |
0 |
1
|
0 |
0 |
1
|
DAB1
|
0 |
0 |
1
|
0 |
0 |
1
|
DCX
|
1
|
0 |
0 |
0 |
0 |
1
|
DDB2, LOC126861205
|
0 |
0 |
1
|
0 |
0 |
1
|
DDX23
|
0 |
0 |
1
|
0 |
0 |
1
|
DEAF1
|
0 |
1
|
0 |
0 |
0 |
1
|
DGUOK
|
0 |
0 |
1
|
0 |
0 |
1
|
DHX30
|
0 |
1
|
0 |
0 |
0 |
1
|
DLG4, LOC126862479
|
0 |
0 |
1
|
0 |
0 |
1
|
DLL1
|
1
|
0 |
0 |
0 |
0 |
1
|
DNA2
|
0 |
0 |
1
|
0 |
0 |
1
|
DNASE1L1, LOC130068869, TAFAZZIN
|
1
|
0 |
0 |
0 |
0 |
1
|
DNMT3A
|
1
|
0 |
0 |
0 |
0 |
1
|
DOK7
|
1
|
0 |
0 |
0 |
0 |
1
|
DOLK
|
0 |
0 |
1
|
0 |
0 |
1
|
DPF2
|
0 |
0 |
1
|
0 |
0 |
1
|
DYNC1I2
|
0 |
0 |
1
|
0 |
0 |
1
|
DYNC2I2
|
0 |
1
|
0 |
0 |
0 |
1
|
DYRK1A
|
0 |
1
|
0 |
0 |
0 |
1
|
EFCAB10, RINT1
|
0 |
0 |
1
|
0 |
0 |
1
|
EIF2B2
|
0 |
0 |
1
|
0 |
0 |
1
|
EIF2B4, GTF3C2
|
0 |
0 |
1
|
0 |
0 |
1
|
ELN
|
1
|
0 |
0 |
0 |
0 |
1
|
ELOVL5
|
0 |
0 |
1
|
0 |
0 |
1
|
ERCC2, KLC3
|
0 |
0 |
1
|
0 |
0 |
1
|
EVC
|
0 |
0 |
1
|
0 |
0 |
1
|
EXT2, LOC126861201
|
0 |
0 |
1
|
0 |
0 |
1
|
EXTL3
|
0 |
0 |
1
|
0 |
0 |
1
|
FAM111A
|
0 |
0 |
1
|
0 |
0 |
1
|
FAM111B
|
0 |
1
|
0 |
0 |
0 |
1
|
FAM20A, PRKAR1A
|
0 |
0 |
1
|
0 |
0 |
1
|
FANCA, LOC130059837
|
0 |
0 |
1
|
0 |
0 |
1
|
FANCI, POLG, POLGARF
|
1
|
0 |
0 |
0 |
0 |
1
|
FANCL, VRK2
|
0 |
0 |
1
|
0 |
0 |
1
|
FANCM, LOC130055524
|
0 |
0 |
1
|
0 |
0 |
1
|
FARS2, LOC101927950
|
0 |
0 |
1
|
0 |
0 |
1
|
FASLG
|
0 |
0 |
1
|
0 |
0 |
1
|
FBN1, LOC130057019
|
0 |
0 |
1
|
0 |
0 |
1
|
FBN2
|
0 |
0 |
1
|
0 |
0 |
1
|
FBXO11
|
0 |
1
|
0 |
0 |
0 |
1
|
FBXO11, MSH6
|
1
|
0 |
0 |
0 |
0 |
1
|
FBXO38
|
0 |
0 |
1
|
0 |
0 |
1
|
FGD1
|
0 |
0 |
1
|
0 |
0 |
1
|
FGF12
|
0 |
0 |
1
|
0 |
0 |
1
|
FGFR2
|
1
|
0 |
0 |
0 |
0 |
1
|
FKRP
|
0 |
0 |
1
|
0 |
0 |
1
|
FLNA, LOC107988032
|
0 |
0 |
1
|
0 |
0 |
1
|
FLNB
|
0 |
0 |
1
|
0 |
0 |
1
|
FLT4
|
0 |
0 |
1
|
0 |
0 |
1
|
FMN2
|
0 |
0 |
1
|
0 |
0 |
1
|
FN1
|
0 |
0 |
1
|
0 |
0 |
1
|
FOXG1
|
1
|
0 |
0 |
0 |
0 |
1
|
FOXN1
|
0 |
0 |
1
|
0 |
0 |
1
|
FOXP2
|
0 |
0 |
1
|
0 |
0 |
1
|
FREM2
|
0 |
0 |
1
|
0 |
0 |
1
|
FRMD7
|
0 |
0 |
1
|
0 |
0 |
1
|
FTL
|
0 |
0 |
1
|
0 |
0 |
1
|
GABRA1
|
0 |
1
|
0 |
0 |
0 |
1
|
GABRA2
|
0 |
0 |
1
|
0 |
0 |
1
|
GABRB2
|
0 |
0 |
1
|
0 |
0 |
1
|
GALK1, ITGB4
|
0 |
0 |
1
|
0 |
0 |
1
|
GALNS
|
1
|
0 |
0 |
0 |
0 |
1
|
GATAD2B
|
0 |
0 |
1
|
0 |
0 |
1
|
GBA1, LOC106627981
|
1
|
0 |
0 |
0 |
0 |
1
|
GBE1
|
1
|
0 |
0 |
0 |
0 |
1
|
GBF1
|
0 |
0 |
1
|
0 |
0 |
1
|
GCK
|
0 |
1
|
0 |
0 |
0 |
1
|
GH-LCR, SCN4A
|
1
|
0 |
0 |
0 |
0 |
1
|
GHR
|
0 |
0 |
1
|
0 |
0 |
1
|
GJB4
|
0 |
0 |
1
|
0 |
0 |
1
|
GJB6
|
0 |
0 |
1
|
0 |
0 |
1
|
GNAS
|
0 |
0 |
1
|
0 |
0 |
1
|
GNB1
|
1
|
0 |
0 |
0 |
0 |
1
|
GNE
|
1
|
0 |
0 |
0 |
0 |
1
|
GPHN, RDH12
|
1
|
0 |
0 |
0 |
0 |
1
|
GRIA2
|
0 |
0 |
1
|
0 |
0 |
1
|
GRIA4
|
0 |
0 |
1
|
0 |
0 |
1
|
GRIN2B
|
0 |
0 |
1
|
0 |
0 |
1
|
GSDME
|
0 |
0 |
1
|
0 |
0 |
1
|
HAL
|
0 |
0 |
1
|
0 |
0 |
1
|
HARS1, LOC129994848
|
0 |
0 |
1
|
0 |
0 |
1
|
HBA-LCR, NPRL3
|
0 |
0 |
1
|
0 |
0 |
1
|
HECW2
|
0 |
0 |
1
|
0 |
0 |
1
|
HNF1B
|
1
|
0 |
0 |
0 |
0 |
1
|
HNF4A
|
0 |
0 |
1
|
0 |
0 |
1
|
HNRNPH2, RPL36A-HNRNPH2
|
1
|
0 |
0 |
0 |
0 |
1
|
HNRNPK
|
0 |
0 |
1
|
0 |
0 |
1
|
HNRNPU
|
0 |
1
|
0 |
0 |
0 |
1
|
HRAS, LRRC56
|
0 |
0 |
1
|
0 |
0 |
1
|
HSD3B2
|
0 |
0 |
1
|
0 |
0 |
1
|
HSPA9
|
0 |
0 |
1
|
0 |
0 |
1
|
HTRA1
|
1
|
0 |
0 |
0 |
0 |
1
|
HUWE1
|
0 |
0 |
1
|
0 |
0 |
1
|
IDH2
|
0 |
0 |
1
|
0 |
0 |
1
|
IDUA
|
1
|
0 |
0 |
0 |
0 |
1
|
IFT140
|
0 |
1
|
0 |
0 |
0 |
1
|
IGF1R
|
0 |
0 |
1
|
0 |
0 |
1
|
IKZF1
|
0 |
0 |
1
|
0 |
0 |
1
|
IKZF3
|
0 |
0 |
1
|
0 |
0 |
1
|
IL10RA
|
0 |
0 |
1
|
0 |
0 |
1
|
IL1RAPL1
|
0 |
0 |
1
|
0 |
0 |
1
|
INF2
|
1
|
0 |
0 |
0 |
0 |
1
|
IRF2BP2, LOC129932810
|
0 |
0 |
1
|
0 |
0 |
1
|
IRF3
|
0 |
0 |
1
|
0 |
0 |
1
|
IRF4
|
0 |
0 |
1
|
0 |
0 |
1
|
IRF6
|
0 |
0 |
1
|
0 |
0 |
1
|
IRF8
|
0 |
0 |
1
|
0 |
0 |
1
|
JAG1
|
0 |
0 |
1
|
0 |
0 |
1
|
JARID2
|
0 |
0 |
1
|
0 |
0 |
1
|
JPH2
|
0 |
0 |
1
|
0 |
0 |
1
|
KAT5, RNASEH2C
|
0 |
0 |
1
|
0 |
0 |
1
|
KAT6B
|
0 |
1
|
0 |
0 |
0 |
1
|
KCNC1
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNH1
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNJ5
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNJ6
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNK3
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNMA1
|
0 |
0 |
1
|
0 |
0 |
1
|
KDM5C
|
0 |
0 |
1
|
0 |
0 |
1
|
KIF11
|
1
|
0 |
0 |
0 |
0 |
1
|
KIF1A, LOC126806583
|
0 |
0 |
1
|
0 |
0 |
1
|
KIF5A
|
0 |
0 |
1
|
0 |
0 |
1
|
KLHL40
|
1
|
0 |
0 |
0 |
0 |
1
|
KMT2A
|
0 |
1
|
0 |
0 |
0 |
1
|
KMT2E
|
0 |
0 |
1
|
0 |
0 |
1
|
KMT5B
|
0 |
0 |
1
|
0 |
0 |
1
|
KNL1
|
0 |
0 |
1
|
0 |
0 |
1
|
KRAS
|
0 |
0 |
1
|
0 |
0 |
1
|
KRIT1
|
0 |
0 |
1
|
0 |
0 |
1
|
KRT10
|
0 |
0 |
1
|
0 |
0 |
1
|
KRT5, LOC126861526
|
0 |
1
|
0 |
0 |
0 |
1
|
KRT81, KRT86
|
0 |
0 |
1
|
0 |
0 |
1
|
LAGE3, LOC130068876
|
0 |
0 |
1
|
0 |
0 |
1
|
LAMA2, LOC123864065
|
1
|
0 |
0 |
0 |
0 |
1
|
LAMB2
|
0 |
0 |
1
|
0 |
0 |
1
|
LAMP2
|
0 |
0 |
1
|
0 |
0 |
1
|
LARS1
|
1
|
0 |
0 |
0 |
0 |
1
|
LARS2
|
0 |
0 |
1
|
0 |
0 |
1
|
LMNA
|
1
|
0 |
0 |
0 |
0 |
1
|
LMX1A
|
0 |
1
|
0 |
0 |
0 |
1
|
LMX1B
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC105369373, PPFIA1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC106736614, RET
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC107652445, SHOX
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC110011216, PHOX2B
|
0 |
0 |
0 |
1
|
0 |
1
|
LOC114827850, MYL2
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC126807437, MSH3
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126859837, SYNE1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126861106, TUBGCP2
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126862264, MEFV
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC126862481, POLR2A
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126863133, TOM1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126863253, UBA1
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC126863256, WDR45
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC129390903, RAD51C
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC129936244, XPC
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130003710, RET
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130004775, NHLRC2
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC130006027, LTBP3
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130009573, RFXAP
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC130056709, NIPA1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130061479, PSMD12
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130061900, SGSH
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130067016, LZTR1
|
0 |
0 |
1
|
0 |
0 |
1
|
LONP2, SIAH1
|
0 |
0 |
1
|
0 |
0 |
1
|
LRBA
|
0 |
0 |
1
|
0 |
0 |
1
|
LRP4
|
0 |
0 |
1
|
0 |
0 |
1
|
LRP6
|
0 |
1
|
0 |
0 |
0 |
1
|
LTBP3, SCYL1
|
0 |
0 |
1
|
0 |
0 |
1
|
LYST
|
0 |
0 |
1
|
0 |
0 |
1
|
MACF1
|
0 |
0 |
1
|
0 |
0 |
1
|
MAGT1
|
0 |
0 |
1
|
0 |
0 |
1
|
MAN2B1
|
1
|
0 |
0 |
0 |
0 |
1
|
MAOA
|
0 |
0 |
1
|
0 |
0 |
1
|
MAP2K2
|
0 |
0 |
1
|
0 |
0 |
1
|
MAPK1
|
0 |
1
|
0 |
0 |
0 |
1
|
MAPK3
|
0 |
1
|
0 |
0 |
0 |
1
|
MASP1
|
0 |
0 |
1
|
0 |
0 |
1
|
MASP2
|
0 |
1
|
0 |
0 |
0 |
1
|
MAX
|
0 |
0 |
1
|
0 |
0 |
1
|
MBD5
|
0 |
0 |
1
|
0 |
0 |
1
|
MBTPS2
|
0 |
0 |
1
|
0 |
0 |
1
|
MCCC2
|
0 |
1
|
0 |
0 |
0 |
1
|
MECP2
|
0 |
1
|
0 |
0 |
0 |
1
|
MED12L
|
0 |
0 |
1
|
0 |
0 |
1
|
MED25
|
0 |
0 |
1
|
0 |
0 |
1
|
MEFV
|
0 |
1
|
0 |
0 |
0 |
1
|
MEIS2
|
1
|
0 |
0 |
0 |
0 |
1
|
MID1
|
0 |
0 |
1
|
0 |
0 |
1
|
MMP20
|
0 |
0 |
1
|
0 |
0 |
1
|
MPEG1
|
0 |
0 |
1
|
0 |
0 |
1
|
MPO
|
1
|
0 |
0 |
0 |
0 |
1
|
MRPS2
|
0 |
0 |
1
|
0 |
0 |
1
|
MTHFD1
|
0 |
0 |
1
|
0 |
0 |
1
|
MTM1
|
0 |
1
|
0 |
0 |
0 |
1
|
MTO1
|
0 |
1
|
0 |
0 |
0 |
1
|
MTOR
|
0 |
0 |
1
|
0 |
0 |
1
|
MYBPC3
|
1
|
0 |
0 |
0 |
0 |
1
|
MYD88
|
0 |
0 |
1
|
0 |
0 |
1
|
MYH11
|
0 |
0 |
1
|
0 |
0 |
1
|
MYH11, NDE1
|
0 |
0 |
1
|
0 |
0 |
1
|
MYH6
|
0 |
0 |
1
|
0 |
0 |
1
|
MYH7
|
0 |
0 |
1
|
0 |
0 |
1
|
MYH9
|
0 |
0 |
1
|
0 |
0 |
1
|
MYLK
|
0 |
0 |
0 |
0 |
1
|
1
|
MYO1E
|
0 |
0 |
1
|
0 |
0 |
1
|
NAA15
|
1
|
0 |
0 |
0 |
0 |
1
|
NALCN
|
0 |
0 |
1
|
0 |
0 |
1
|
NBAS
|
0 |
0 |
1
|
0 |
0 |
1
|
NBEA
|
0 |
0 |
1
|
0 |
0 |
1
|
NCOA4
|
0 |
0 |
1
|
0 |
0 |
1
|
NCSTN
|
0 |
0 |
1
|
0 |
0 |
1
|
NDUFV1
|
0 |
0 |
1
|
0 |
0 |
1
|
NEB
|
0 |
0 |
1
|
0 |
0 |
1
|
NEB, RIF1
|
1
|
0 |
0 |
0 |
0 |
1
|
NEK1
|
0 |
0 |
1
|
0 |
0 |
1
|
NEK10
|
0 |
0 |
1
|
0 |
0 |
1
|
NEMF
|
1
|
0 |
0 |
0 |
0 |
1
|
NEUROD1
|
0 |
0 |
1
|
0 |
0 |
1
|
NFE2L2
|
0 |
0 |
1
|
0 |
0 |
1
|
NFIA
|
0 |
0 |
1
|
0 |
0 |
1
|
NFIB
|
0 |
0 |
1
|
0 |
0 |
1
|
NHLRC2
|
1
|
0 |
0 |
0 |
0 |
1
|
NKX2-1, SFTA3
|
1
|
0 |
0 |
0 |
0 |
1
|
NLGN4X
|
0 |
0 |
1
|
0 |
0 |
1
|
NLRC4
|
0 |
0 |
1
|
0 |
0 |
1
|
NOG
|
0 |
1
|
0 |
0 |
0 |
1
|
NONO
|
0 |
0 |
1
|
0 |
0 |
1
|
NPRL2
|
0 |
0 |
1
|
0 |
0 |
1
|
NR2F1
|
0 |
1
|
0 |
0 |
0 |
1
|
NR5A1
|
0 |
0 |
1
|
0 |
0 |
1
|
NRXN1
|
0 |
0 |
1
|
0 |
0 |
1
|
NTRK2
|
0 |
1
|
0 |
0 |
0 |
1
|
OAT
|
1
|
0 |
0 |
0 |
0 |
1
|
OCA2
|
1
|
0 |
0 |
0 |
0 |
1
|
ODC1
|
0 |
0 |
1
|
0 |
0 |
1
|
OGT
|
0 |
1
|
0 |
0 |
0 |
1
|
OTC
|
0 |
1
|
0 |
0 |
0 |
1
|
OTUD5
|
0 |
0 |
1
|
0 |
0 |
1
|
OTX2
|
0 |
0 |
1
|
0 |
0 |
1
|
PACRG, PRKN
|
0 |
0 |
1
|
0 |
0 |
1
|
PAK3
|
0 |
0 |
1
|
0 |
0 |
1
|
PCYT2
|
0 |
0 |
1
|
0 |
0 |
1
|
PDE11A
|
0 |
0 |
1
|
0 |
0 |
1
|
PDE8B
|
0 |
0 |
1
|
0 |
0 |
1
|
PDGFRB
|
0 |
0 |
1
|
0 |
0 |
1
|
PDYN
|
0 |
0 |
1
|
0 |
0 |
1
|
PHF6
|
1
|
0 |
0 |
0 |
0 |
1
|
PHF8
|
0 |
0 |
1
|
0 |
0 |
1
|
PIDD1
|
0 |
0 |
1
|
0 |
0 |
1
|
PIGT
|
1
|
0 |
0 |
0 |
0 |
1
|
PIGV
|
0 |
0 |
1
|
0 |
0 |
1
|
PIK3CD
|
0 |
0 |
1
|
0 |
0 |
1
|
PIK3R1
|
0 |
0 |
1
|
0 |
0 |
1
|
PITX1
|
0 |
0 |
1
|
0 |
0 |
1
|
PKP2
|
1
|
0 |
0 |
0 |
0 |
1
|
PLA2G6
|
0 |
0 |
1
|
0 |
0 |
1
|
PLOD1
|
0 |
0 |
1
|
0 |
0 |
1
|
PLP1, RAB9B
|
0 |
0 |
1
|
0 |
0 |
1
|
PMM2
|
1
|
0 |
0 |
0 |
0 |
1
|
PNPT1
|
0 |
0 |
1
|
0 |
0 |
1
|
POGZ
|
1
|
0 |
0 |
0 |
0 |
1
|
POLR2F, SOX10
|
0 |
0 |
1
|
0 |
0 |
1
|
POT1
|
0 |
0 |
1
|
0 |
0 |
1
|
PPIP5K2
|
0 |
0 |
1
|
0 |
0 |
1
|
PPM1D
|
0 |
0 |
1
|
0 |
0 |
1
|
PPOX
|
0 |
0 |
1
|
0 |
0 |
1
|
PPP1R12A
|
0 |
0 |
1
|
0 |
0 |
1
|
PPP2CA
|
0 |
0 |
1
|
0 |
0 |
1
|
PROKR2
|
1
|
0 |
0 |
0 |
0 |
1
|
PROP1
|
0 |
0 |
1
|
0 |
0 |
1
|
PRPH2
|
1
|
0 |
0 |
0 |
0 |
1
|
PSMB4
|
0 |
0 |
1
|
0 |
0 |
1
|
PSMB9
|
0 |
0 |
1
|
0 |
0 |
1
|
PURA
|
1
|
0 |
0 |
0 |
0 |
1
|
PYGL
|
1
|
0 |
0 |
0 |
0 |
1
|
QARS1
|
1
|
0 |
0 |
0 |
0 |
1
|
RAD50, TH2-LCR, TH2LCRR
|
0 |
0 |
1
|
0 |
0 |
1
|
RAD51
|
0 |
0 |
1
|
0 |
0 |
1
|
RAI1
|
0 |
1
|
0 |
0 |
0 |
1
|
RALA
|
1
|
0 |
0 |
0 |
0 |
1
|
RANBP2
|
0 |
0 |
1
|
0 |
0 |
1
|
RARS1
|
1
|
0 |
0 |
0 |
0 |
1
|
RARS2
|
0 |
0 |
1
|
0 |
0 |
1
|
RBM10
|
0 |
0 |
1
|
0 |
0 |
1
|
RBM20
|
1
|
0 |
0 |
0 |
0 |
1
|
REEP1
|
0 |
0 |
1
|
0 |
0 |
1
|
RERE
|
0 |
0 |
1
|
0 |
0 |
1
|
RIPK1
|
0 |
0 |
1
|
0 |
0 |
1
|
RIT1
|
0 |
0 |
1
|
0 |
0 |
1
|
RMRP
|
1
|
0 |
0 |
0 |
0 |
1
|
RNASEH2B
|
1
|
0 |
0 |
0 |
0 |
1
|
RNASEH2C
|
0 |
0 |
1
|
0 |
0 |
1
|
ROR2
|
0 |
0 |
1
|
0 |
0 |
1
|
RPS6KA3
|
0 |
0 |
1
|
0 |
0 |
1
|
RUNX2, SUPT3H
|
0 |
0 |
1
|
0 |
0 |
1
|
SAMHD1
|
0 |
0 |
1
|
0 |
0 |
1
|
SBDS
|
0 |
1
|
0 |
0 |
0 |
1
|
SCN10A
|
0 |
0 |
1
|
0 |
0 |
1
|
SCN3A
|
0 |
0 |
1
|
0 |
0 |
1
|
SETBP1
|
0 |
0 |
1
|
0 |
0 |
1
|
SETD1B
|
0 |
0 |
1
|
0 |
0 |
1
|
SGCD
|
0 |
0 |
1
|
0 |
0 |
1
|
SHANK3
|
1
|
0 |
0 |
0 |
0 |
1
|
SIK1
|
0 |
1
|
0 |
0 |
0 |
1
|
SLC12A2
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC12A6
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC24A1
|
1
|
0 |
0 |
0 |
0 |
1
|
SLC25A11
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC25A13
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC25A4
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC29A3
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC35A2
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC3A1
|
1
|
0 |
0 |
0 |
0 |
1
|
SLC46A1
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC52A1
|
1
|
0 |
0 |
0 |
0 |
1
|
SLC52A3
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC6A1
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC6A19
|
0 |
1
|
0 |
0 |
0 |
1
|
SLC6A8
|
0 |
0 |
1
|
0 |
0 |
1
|
SMAD2
|
0 |
1
|
0 |
0 |
0 |
1
|
SMAD6
|
0 |
0 |
1
|
0 |
0 |
1
|
SMARCB1
|
0 |
0 |
1
|
0 |
0 |
1
|
SMARCC2
|
0 |
0 |
1
|
0 |
0 |
1
|
SMC1A
|
0 |
0 |
1
|
0 |
0 |
1
|
SMS
|
0 |
0 |
1
|
0 |
0 |
1
|
SNHG14, UBE3A
|
0 |
0 |
1
|
0 |
0 |
1
|
SNRNP200
|
0 |
1
|
0 |
0 |
0 |
1
|
SORD
|
1
|
0 |
0 |
0 |
0 |
1
|
SOS1
|
1
|
0 |
0 |
0 |
0 |
1
|
SOX4
|
0 |
0 |
1
|
0 |
0 |
1
|
SPEN
|
0 |
0 |
1
|
0 |
0 |
1
|
SPG7
|
1
|
0 |
0 |
0 |
0 |
1
|
SPRED1
|
0 |
0 |
1
|
0 |
0 |
1
|
SPTAN1
|
0 |
1
|
0 |
0 |
0 |
1
|
SPTBN4
|
0 |
0 |
1
|
0 |
0 |
1
|
SPTLC2
|
0 |
0 |
1
|
0 |
0 |
1
|
SQSTM1
|
0 |
0 |
1
|
0 |
0 |
1
|
SRCAP
|
1
|
0 |
0 |
0 |
0 |
1
|
SSR4
|
0 |
0 |
1
|
0 |
0 |
1
|
STIL
|
0 |
0 |
1
|
0 |
0 |
1
|
STXBP1
|
0 |
0 |
1
|
0 |
0 |
1
|
SYN1
|
0 |
1
|
0 |
0 |
0 |
1
|
SYNGAP1
|
0 |
0 |
1
|
0 |
0 |
1
|
TBCD
|
0 |
0 |
1
|
0 |
0 |
1
|
TCOF1
|
0 |
0 |
1
|
0 |
0 |
1
|
TCTN3
|
0 |
0 |
1
|
0 |
0 |
1
|
TELO2
|
0 |
1
|
0 |
0 |
0 |
1
|
TFAP2B
|
0 |
1
|
0 |
0 |
0 |
1
|
TGFB2
|
0 |
0 |
0 |
1
|
0 |
1
|
TGFB3
|
0 |
0 |
1
|
0 |
0 |
1
|
TGFBR1
|
0 |
1
|
0 |
0 |
0 |
1
|
TGFBR2
|
0 |
0 |
1
|
0 |
0 |
1
|
TGM5
|
1
|
0 |
0 |
0 |
0 |
1
|
THSD1
|
0 |
0 |
1
|
0 |
0 |
1
|
TICAM1
|
0 |
0 |
1
|
0 |
0 |
1
|
TKT
|
0 |
0 |
1
|
0 |
0 |
1
|
TLR8
|
0 |
0 |
1
|
0 |
0 |
1
|
TLR9
|
0 |
0 |
1
|
0 |
0 |
1
|
TMEM67
|
1
|
0 |
0 |
0 |
0 |
1
|
TMEM70
|
1
|
0 |
0 |
0 |
0 |
1
|
TMTC3
|
0 |
1
|
0 |
0 |
0 |
1
|
TNFRSF11A
|
0 |
0 |
1
|
0 |
0 |
1
|
TNFRSF1A
|
0 |
0 |
1
|
0 |
0 |
1
|
TNNT2
|
0 |
1
|
0 |
0 |
0 |
1
|
TNNT3
|
1
|
0 |
0 |
0 |
0 |
1
|
TNPO2
|
0 |
0 |
1
|
0 |
0 |
1
|
TNPO3
|
0 |
1
|
0 |
0 |
0 |
1
|
TNRC6B
|
0 |
0 |
1
|
0 |
0 |
1
|
TP63
|
0 |
0 |
1
|
0 |
0 |
1
|
TPP1
|
1
|
0 |
0 |
0 |
0 |
1
|
TRIP12
|
0 |
1
|
0 |
0 |
0 |
1
|
TRRAP
|
0 |
1
|
0 |
0 |
0 |
1
|
TSPOAP1
|
1
|
0 |
0 |
0 |
0 |
1
|
TTN
|
1
|
0 |
0 |
0 |
0 |
1
|
TTPA
|
0 |
0 |
1
|
0 |
0 |
1
|
TUBB2A
|
1
|
0 |
0 |
0 |
0 |
1
|
TUBB3
|
1
|
0 |
0 |
0 |
0 |
1
|
TUBB4A
|
0 |
1
|
0 |
0 |
0 |
1
|
TUBGCP6
|
0 |
0 |
1
|
0 |
0 |
1
|
TYR
|
0 |
1
|
0 |
0 |
0 |
1
|
U2AF1
|
0 |
1
|
0 |
0 |
0 |
1
|
UBE4A
|
1
|
0 |
0 |
0 |
0 |
1
|
UGDH
|
0 |
0 |
1
|
0 |
0 |
1
|
UPB1
|
1
|
0 |
0 |
0 |
0 |
1
|
USB1
|
0 |
1
|
0 |
0 |
0 |
1
|
VDR
|
0 |
0 |
1
|
0 |
0 |
1
|
VMA21
|
0 |
0 |
1
|
0 |
0 |
1
|
VPS13A
|
0 |
0 |
1
|
0 |
0 |
1
|
VWF
|
1
|
0 |
0 |
0 |
0 |
1
|
WAC
|
0 |
1
|
0 |
0 |
0 |
1
|
WARS1
|
0 |
0 |
1
|
0 |
0 |
1
|
WASF1
|
1
|
0 |
0 |
0 |
0 |
1
|
WDR26
|
1
|
0 |
0 |
0 |
0 |
1
|
WFS1
|
0 |
0 |
1
|
0 |
0 |
1
|
WT1
|
0 |
0 |
1
|
0 |
0 |
1
|
YARS1
|
0 |
0 |
1
|
0 |
0 |
1
|
YWHAE
|
0 |
0 |
1
|
0 |
0 |
1
|
ZBTB20
|
0 |
0 |
1
|
0 |
0 |
1
|
ZBTB24
|
1
|
0 |
0 |
0 |
0 |
1
|
ZC4H2
|
1
|
0 |
0 |
0 |
0 |
1
|
ZFYVE27
|
0 |
0 |
1
|
0 |
0 |
1
|
ZMIZ1
|
0 |
1
|
0 |
0 |
0 |
1
|
ZMYM2
|
1
|
0 |
0 |
0 |
0 |
1
|
ZMYND11
|
0 |
1
|
0 |
0 |
0 |
1
|
ZNF292
|
0 |
0 |
1
|
0 |
0 |
1
|
ZNFX1
|
0 |
0 |
1
|
0 |
0 |
1
|
ZSWIM6
|
0 |
0 |
1
|
0 |
0 |
1
|
Condition and significance breakdown #
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.