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.
Gene and significance breakdown #
Total genes and gene combinations: 1817
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
TTN
|
6
|
15
|
410
|
0 |
0 |
431
|
APC
|
70
|
66
|
29
|
29
|
27
|
221
|
CFTR
|
65
|
16
|
101
|
0 |
0 |
182
|
BRCA2
|
47
|
7
|
46
|
43
|
31
|
174
|
ATP7B
|
63
|
41
|
66
|
0 |
0 |
170
|
MSH6
|
38
|
28
|
43
|
18
|
30
|
157
|
SPTA1
|
12
|
31
|
91
|
0 |
0 |
134
|
MLH1
|
39
|
16
|
34
|
16
|
23
|
128
|
MSH2
|
36
|
21
|
27
|
10
|
19
|
113
|
SPTB
|
4
|
33
|
71
|
0 |
0 |
108
|
BRCA1
|
34
|
1
|
21
|
17
|
16
|
89
|
PIEZO1
|
1
|
4
|
82
|
0 |
0 |
87
|
LAMA2
|
7
|
0 |
75
|
0 |
0 |
82
|
ANK1
|
7
|
21
|
53
|
0 |
0 |
81
|
GAA
|
9
|
4
|
24
|
11
|
28
|
76
|
SACS
|
0 |
1
|
53
|
4
|
15
|
73
|
AGL
|
5
|
5
|
31
|
15
|
11
|
67
|
CFH
|
4
|
12
|
45
|
0 |
0 |
61
|
SLC4A1
|
6
|
19
|
34
|
0 |
0 |
59
|
DST
|
0 |
0 |
58
|
0 |
0 |
58
|
POLG, POLGARF
|
1
|
1
|
46
|
7
|
3
|
58
|
LDLR
|
31
|
12
|
14
|
0 |
0 |
56
|
GALT
|
32
|
6
|
17
|
0 |
0 |
55
|
FBN1
|
19
|
12
|
20
|
0 |
0 |
51
|
TP53
|
14
|
9
|
12
|
7
|
8
|
50
|
ADAMTS13
|
5
|
5
|
39
|
0 |
0 |
49
|
HSALR1, PIEZO1
|
0 |
4
|
45
|
0 |
0 |
49
|
PMS2
|
11
|
3
|
10
|
5
|
20
|
49
|
NPC1
|
4
|
2
|
12
|
12
|
18
|
48
|
SPG11
|
4
|
0 |
43
|
0 |
0 |
47
|
GALC
|
1
|
5
|
21
|
3
|
16
|
46
|
MYBPC3
|
16
|
7
|
23
|
0 |
0 |
46
|
ENG
|
28
|
6
|
8
|
0 |
0 |
42
|
NEB
|
0 |
1
|
41
|
0 |
0 |
42
|
RYR1
|
1
|
1
|
40
|
0 |
0 |
42
|
SBF1
|
0 |
0 |
42
|
0 |
0 |
42
|
PKHD1
|
6
|
5
|
30
|
0 |
0 |
41
|
COL5A1
|
0 |
3
|
36
|
0 |
1
|
40
|
NOTCH3
|
9
|
7
|
24
|
0 |
0 |
40
|
ACVRL1
|
25
|
9
|
5
|
0 |
0 |
39
|
ATP13A2
|
0 |
0 |
17
|
8
|
14
|
39
|
C3
|
2
|
1
|
36
|
0 |
0 |
39
|
DYSF
|
3
|
2
|
34
|
0 |
0 |
39
|
PTEN
|
8
|
3
|
14
|
9
|
5
|
39
|
SYNE1
|
0 |
3
|
36
|
0 |
0 |
39
|
PLEC
|
0 |
0 |
38
|
0 |
0 |
38
|
PKLR
|
7
|
6
|
23
|
0 |
0 |
36
|
FLNA
|
1
|
0 |
34
|
0 |
0 |
35
|
RTEL1, RTEL1-TNFRSF6B
|
2
|
0 |
33
|
0 |
0 |
35
|
ZFYVE26
|
0 |
1
|
33
|
0 |
1
|
35
|
CDH1
|
2
|
2
|
9
|
11
|
10
|
34
|
FANCA
|
1
|
1
|
32
|
0 |
0 |
34
|
SCN5A
|
5
|
3
|
26
|
0 |
0 |
34
|
SETX
|
2
|
0 |
32
|
0 |
0 |
34
|
CFI
|
3
|
7
|
23
|
0 |
0 |
33
|
CDAN1
|
0 |
4
|
28
|
0 |
0 |
32
|
F8
|
6
|
17
|
9
|
0 |
0 |
32
|
GBE1
|
2
|
1
|
20
|
3
|
6
|
32
|
GNPTAB
|
0 |
1
|
12
|
5
|
14
|
32
|
LYST
|
0 |
0 |
32
|
0 |
0 |
32
|
PYGM
|
2
|
2
|
19
|
4
|
5
|
32
|
RET
|
15
|
2
|
15
|
0 |
0 |
32
|
EPB42
|
0 |
3
|
28
|
0 |
0 |
31
|
GALNS
|
1
|
2
|
5
|
5
|
18
|
31
|
NF1
|
15
|
10
|
6
|
0 |
0 |
31
|
SH3TC2
|
3
|
2
|
26
|
0 |
0 |
31
|
SMPD1
|
1
|
0 |
16
|
3
|
11
|
31
|
TSC2
|
13
|
5
|
13
|
0 |
0 |
31
|
ATM
|
2
|
1
|
26
|
1
|
0 |
30
|
COL1A1
|
2
|
3
|
25
|
0 |
0 |
30
|
MAN2B1
|
0 |
1
|
12
|
6
|
11
|
30
|
MLH3
|
0 |
2
|
8
|
11
|
9
|
30
|
VWF
|
4
|
5
|
21
|
0 |
0 |
30
|
AXIN2
|
0 |
0 |
9
|
8
|
12
|
29
|
DARS2
|
2
|
1
|
3
|
7
|
16
|
29
|
DSP
|
3
|
1
|
25
|
0 |
0 |
29
|
PLG
|
0 |
0 |
29
|
0 |
0 |
29
|
PRX
|
1
|
0 |
27
|
0 |
0 |
28
|
RYR2
|
1
|
1
|
26
|
0 |
0 |
28
|
TPP1
|
3
|
0 |
8
|
2
|
15
|
28
|
VARS2
|
0 |
0 |
8
|
4
|
16
|
28
|
ABCG8
|
0 |
0 |
27
|
0 |
0 |
27
|
PLEKHG5
|
0 |
2
|
25
|
0 |
0 |
27
|
SCN1A, SCN9A
|
1
|
0 |
26
|
0 |
0 |
27
|
FLCN
|
13
|
9
|
4
|
0 |
0 |
26
|
PHKB
|
0 |
1
|
13
|
9
|
3
|
26
|
APOB
|
2
|
0 |
23
|
0 |
0 |
25
|
COL3A1
|
3
|
7
|
15
|
0 |
0 |
25
|
COL5A2
|
0 |
0 |
25
|
0 |
0 |
25
|
IDUA
|
2
|
0 |
6
|
6
|
11
|
25
|
IGHMBP2
|
1
|
1
|
23
|
0 |
0 |
25
|
LMNA
|
7
|
1
|
17
|
0 |
0 |
25
|
PFKM
|
0 |
2
|
13
|
2
|
8
|
25
|
POLG
|
5
|
3
|
10
|
3
|
4
|
25
|
ADAMTS2
|
0 |
0 |
24
|
0 |
0 |
24
|
AP5Z1
|
0 |
0 |
24
|
0 |
0 |
24
|
CFHR5
|
0 |
0 |
24
|
0 |
0 |
24
|
GBA1, LOC106627981
|
11
|
5
|
7
|
0 |
1
|
24
|
HSD17B4
|
0 |
2
|
8
|
3
|
11
|
24
|
OPA1
|
2
|
0 |
12
|
4
|
6
|
24
|
PTPN11
|
18
|
0 |
6
|
0 |
0 |
24
|
PYGL
|
0 |
0 |
8
|
4
|
12
|
24
|
TERT
|
1
|
4
|
19
|
0 |
0 |
24
|
WNK1
|
0 |
0 |
24
|
0 |
0 |
24
|
ARSA
|
6
|
2
|
7
|
3
|
5
|
23
|
KCNQ1
|
10
|
9
|
4
|
0 |
0 |
23
|
MYH7
|
4
|
3
|
16
|
0 |
0 |
23
|
PEX1
|
2
|
3
|
13
|
1
|
4
|
23
|
VPS13B
|
0 |
1
|
22
|
0 |
0 |
23
|
ARHGEF10
|
0 |
0 |
22
|
0 |
0 |
22
|
ATM, C11orf65
|
5
|
3
|
14
|
0 |
0 |
22
|
NOTCH1
|
0 |
1
|
21
|
0 |
0 |
22
|
PEX6
|
0 |
1
|
6
|
2
|
13
|
22
|
SMAD4
|
6
|
2
|
5
|
4
|
5
|
22
|
ABCC2
|
0 |
2
|
19
|
0 |
0 |
21
|
AMACR, C1QTNF3-AMACR
|
0 |
0 |
11
|
3
|
7
|
21
|
ASAH1
|
0 |
0 |
8
|
1
|
12
|
21
|
CTDP1
|
0 |
0 |
21
|
0 |
0 |
21
|
CTRC
|
0 |
1
|
20
|
0 |
0 |
21
|
FLNC
|
0 |
1
|
20
|
0 |
0 |
21
|
GARS1
|
0 |
0 |
10
|
2
|
9
|
21
|
LRBA
|
0 |
1
|
20
|
0 |
0 |
21
|
PLOD1
|
1
|
0 |
20
|
0 |
0 |
21
|
SCN10A
|
0 |
0 |
21
|
0 |
0 |
21
|
THBD
|
0 |
0 |
21
|
0 |
0 |
21
|
F7
|
8
|
9
|
3
|
0 |
0 |
20
|
GSS
|
1
|
2
|
17
|
0 |
0 |
20
|
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
|
7
|
2
|
11
|
0 |
0 |
20
|
ABCD1
|
3
|
1
|
8
|
2
|
5
|
19
|
CFTR, LOC111674472
|
7
|
3
|
9
|
0 |
0 |
19
|
PGM1
|
0 |
2
|
4
|
0 |
13
|
19
|
PROS1
|
2
|
7
|
10
|
0 |
0 |
19
|
SGSH
|
2
|
1
|
4
|
4
|
8
|
19
|
STK11
|
1
|
1
|
11
|
2
|
4
|
19
|
TWNK
|
0 |
1
|
14
|
1
|
3
|
19
|
ABCB11
|
3
|
1
|
14
|
0 |
0 |
18
|
ABCB4
|
2
|
0 |
16
|
0 |
0 |
18
|
CD46
|
7
|
2
|
9
|
0 |
0 |
18
|
COL6A3
|
0 |
1
|
17
|
0 |
0 |
18
|
CPT2
|
2
|
2
|
14
|
0 |
0 |
18
|
DMD
|
4
|
1
|
13
|
0 |
0 |
18
|
ENG, LOC102723566
|
9
|
4
|
5
|
0 |
0 |
18
|
FIG4
|
2
|
1
|
15
|
0 |
0 |
18
|
G6PD
|
9
|
5
|
4
|
0 |
0 |
18
|
PKD1
|
1
|
6
|
11
|
0 |
0 |
18
|
PROC
|
2
|
7
|
9
|
0 |
0 |
18
|
SPAST
|
5
|
4
|
9
|
0 |
0 |
18
|
SZT2
|
0 |
0 |
18
|
0 |
0 |
18
|
WDR62
|
0 |
2
|
16
|
0 |
0 |
18
|
ABCA1
|
0 |
0 |
17
|
0 |
0 |
17
|
CHEK2
|
6
|
2
|
9
|
0 |
0 |
17
|
COL12A1
|
0 |
1
|
16
|
0 |
0 |
17
|
COX10
|
0 |
1
|
7
|
3
|
6
|
17
|
ERCC6
|
1
|
0 |
16
|
0 |
0 |
17
|
HMBS
|
5
|
6
|
6
|
0 |
0 |
17
|
PLA2G6
|
1
|
0 |
16
|
0 |
0 |
17
|
PLCG2
|
0 |
0 |
17
|
0 |
0 |
17
|
PNKP
|
0 |
2
|
15
|
0 |
0 |
17
|
SEC23B
|
3
|
0 |
14
|
0 |
0 |
17
|
SLC2A1
|
2
|
1
|
14
|
0 |
0 |
17
|
ABAT
|
0 |
0 |
3
|
5
|
8
|
16
|
ABCG5, DYNC2LI1
|
2
|
1
|
13
|
0 |
0 |
16
|
ACADVL
|
7
|
2
|
7
|
0 |
0 |
16
|
CHIT1
|
0 |
0 |
7
|
4
|
5
|
16
|
CNTNAP1
|
1
|
0 |
15
|
0 |
0 |
16
|
COL1A2
|
0 |
4
|
12
|
0 |
0 |
16
|
COQ8A
|
1
|
0 |
6
|
0 |
9
|
16
|
DHTKD1
|
0 |
2
|
14
|
0 |
0 |
16
|
EPB41
|
0 |
2
|
14
|
0 |
0 |
16
|
GFAP
|
0 |
1
|
6
|
2
|
7
|
16
|
HK1
|
0 |
0 |
16
|
0 |
0 |
16
|
KCNH2
|
5
|
7
|
4
|
0 |
0 |
16
|
LDHA
|
0 |
0 |
4
|
4
|
8
|
16
|
LRSAM1
|
0 |
1
|
15
|
0 |
0 |
16
|
MANBA
|
0 |
1
|
1
|
1
|
13
|
16
|
MYH14
|
0 |
0 |
16
|
0 |
0 |
16
|
MYO18B
|
0 |
0 |
16
|
0 |
0 |
16
|
NPHP4
|
0 |
0 |
16
|
0 |
0 |
16
|
NRL, PCK2
|
0 |
3
|
4
|
4
|
5
|
16
|
ACTN2
|
0 |
1
|
14
|
0 |
0 |
15
|
ARSH
|
0 |
0 |
2
|
5
|
8
|
15
|
CFTR, LOC111674475
|
9
|
1
|
5
|
0 |
0 |
15
|
CHAT
|
0 |
1
|
4
|
4
|
6
|
15
|
COL5A1, LOC101448202
|
0 |
1
|
14
|
0 |
0 |
15
|
CTSA
|
0 |
1
|
4
|
4
|
6
|
15
|
CTSF
|
1
|
0 |
6
|
2
|
6
|
15
|
GLB1
|
1
|
2
|
4
|
2
|
6
|
15
|
KIF23
|
0 |
0 |
15
|
0 |
0 |
15
|
LARS2
|
0 |
1
|
1
|
4
|
9
|
15
|
MUTYH
|
3
|
1
|
5
|
1
|
5
|
15
|
NDUFS1
|
0 |
0 |
3
|
3
|
9
|
15
|
NOD2
|
1
|
0 |
14
|
0 |
0 |
15
|
PHYH
|
2
|
0 |
9
|
0 |
4
|
15
|
PNPLA6
|
0 |
1
|
14
|
0 |
0 |
15
|
PRKAG2
|
0 |
0 |
10
|
0 |
5
|
15
|
TNXB
|
0 |
1
|
14
|
0 |
0 |
15
|
TRPV4
|
1
|
0 |
14
|
0 |
0 |
15
|
AKAP9
|
0 |
0 |
14
|
0 |
0 |
14
|
ALDOA, LOC112694756
|
0 |
0 |
11
|
2
|
1
|
14
|
ANO5
|
4
|
1
|
9
|
0 |
0 |
14
|
ARSB
|
1
|
0 |
4
|
1
|
8
|
14
|
CACNA1S
|
1
|
0 |
13
|
0 |
0 |
14
|
CARD14
|
0 |
0 |
14
|
0 |
0 |
14
|
CASR
|
5
|
2
|
7
|
0 |
0 |
14
|
CBS
|
5
|
1
|
8
|
0 |
0 |
14
|
COL6A2
|
0 |
1
|
13
|
0 |
0 |
14
|
ELAC2
|
0 |
1
|
4
|
1
|
8
|
14
|
FECH
|
4
|
2
|
8
|
0 |
0 |
14
|
FKRP
|
1
|
1
|
12
|
0 |
0 |
14
|
GPI
|
1
|
1
|
12
|
0 |
0 |
14
|
GSR
|
0 |
0 |
14
|
0 |
0 |
14
|
GYS2
|
0 |
0 |
2
|
3
|
9
|
14
|
HBB, LOC106099062, LOC107133510
|
11
|
0 |
3
|
0 |
0 |
14
|
MEFV
|
1
|
0 |
13
|
0 |
0 |
14
|
MYPN
|
0 |
0 |
14
|
0 |
0 |
14
|
PEX10
|
0 |
0 |
8
|
3
|
3
|
14
|
RBM20
|
1
|
2
|
11
|
0 |
0 |
14
|
SURF1
|
2
|
0 |
8
|
1
|
3
|
14
|
TIMM44
|
0 |
0 |
0 |
5
|
9
|
14
|
TSC1
|
8
|
4
|
2
|
0 |
0 |
14
|
ZNF469
|
0 |
0 |
14
|
0 |
0 |
14
|
ACACA
|
0 |
0 |
2
|
7
|
4
|
13
|
BMPR1A
|
0 |
0 |
3
|
4
|
6
|
13
|
BRCA1, LOC126862571
|
6
|
0 |
2
|
3
|
2
|
13
|
CACNA1A
|
3
|
0 |
9
|
1
|
0 |
13
|
COL6A1
|
0 |
0 |
13
|
0 |
0 |
13
|
ELP1
|
1
|
2
|
10
|
0 |
0 |
13
|
G6PC1
|
7
|
1
|
2
|
0 |
3
|
13
|
GLA, RPL36A-HNRNPH2
|
3
|
0 |
4
|
1
|
5
|
13
|
GRN
|
0 |
0 |
5
|
3
|
5
|
13
|
GUSB
|
0 |
0 |
3
|
3
|
7
|
13
|
MFN2
|
2
|
2
|
9
|
0 |
0 |
13
|
PDHX
|
0 |
0 |
4
|
0 |
9
|
13
|
SCN11A
|
0 |
0 |
13
|
0 |
0 |
13
|
SPG7
|
5
|
1
|
7
|
0 |
0 |
13
|
ACAD9
|
0 |
0 |
7
|
1
|
4
|
12
|
ACOX3
|
0 |
0 |
1
|
2
|
9
|
12
|
ATP7A
|
0 |
0 |
12
|
0 |
0 |
12
|
CAPN3
|
6
|
0 |
6
|
0 |
0 |
12
|
CLN5
|
1
|
1
|
5
|
0 |
5
|
12
|
COQ8B
|
0 |
0 |
2
|
4
|
6
|
12
|
CTNS
|
0 |
0 |
2
|
1
|
9
|
12
|
CTSD
|
0 |
0 |
2
|
6
|
4
|
12
|
D2HGDH
|
0 |
0 |
5
|
1
|
6
|
12
|
DLD
|
0 |
1
|
2
|
4
|
5
|
12
|
DOCK7
|
0 |
0 |
12
|
0 |
0 |
12
|
ENO3
|
0 |
1
|
3
|
0 |
8
|
12
|
ETFDH
|
0 |
1
|
6
|
4
|
1
|
12
|
FBN2
|
1
|
0 |
11
|
0 |
0 |
12
|
GFM1
|
0 |
0 |
5
|
3
|
4
|
12
|
GYG1
|
0 |
1
|
5
|
2
|
4
|
12
|
HEXA
|
4
|
1
|
1
|
1
|
5
|
12
|
KARS1
|
0 |
1
|
11
|
0 |
0 |
12
|
KIF1A
|
0 |
0 |
12
|
0 |
0 |
12
|
MMACHC
|
2
|
2
|
8
|
0 |
0 |
12
|
MPZ
|
5
|
1
|
6
|
0 |
0 |
12
|
MTFMT
|
0 |
0 |
2
|
3
|
7
|
12
|
MVK
|
2
|
4
|
6
|
0 |
0 |
12
|
MYLK
|
0 |
0 |
12
|
0 |
0 |
12
|
NAGLU
|
0 |
1
|
4
|
3
|
4
|
12
|
NTRK1
|
0 |
0 |
12
|
0 |
0 |
12
|
PEX7
|
1
|
0 |
9
|
1
|
1
|
12
|
PHKA2
|
0 |
1
|
5
|
3
|
3
|
12
|
PPT1
|
3
|
0 |
3
|
4
|
2
|
12
|
SBF2
|
0 |
0 |
12
|
0 |
0 |
12
|
SCN2A
|
2
|
0 |
10
|
0 |
0 |
12
|
SLC25A12
|
0 |
0 |
5
|
4
|
3
|
12
|
SUMF1
|
1
|
0 |
3
|
4
|
4
|
12
|
TTR
|
6
|
0 |
6
|
0 |
0 |
12
|
ACOX1
|
0 |
0 |
4
|
2
|
5
|
11
|
ADGRV1
|
0 |
1
|
10
|
0 |
0 |
11
|
AIFM1, RAB33A
|
0 |
0 |
6
|
2
|
3
|
11
|
ALDH3A2
|
0 |
4
|
1
|
4
|
2
|
11
|
ANK2
|
0 |
0 |
11
|
0 |
0 |
11
|
ARFGEF2
|
0 |
0 |
11
|
0 |
0 |
11
|
B4GALNT1
|
1
|
1
|
9
|
0 |
0 |
11
|
BAG3
|
1
|
0 |
10
|
0 |
0 |
11
|
CLN3
|
1
|
0 |
6
|
2
|
2
|
11
|
CLN6
|
0 |
1
|
6
|
3
|
1
|
11
|
CNTNAP2
|
0 |
1
|
10
|
0 |
0 |
11
|
COL4A1
|
0 |
1
|
10
|
0 |
0 |
11
|
CUBN
|
0 |
1
|
10
|
0 |
0 |
11
|
DDHD1
|
0 |
0 |
11
|
0 |
0 |
11
|
DNA2
|
0 |
0 |
2
|
2
|
7
|
11
|
DSG2
|
0 |
0 |
11
|
0 |
0 |
11
|
ELANE
|
2
|
3
|
6
|
0 |
0 |
11
|
F11
|
4
|
5
|
2
|
0 |
0 |
11
|
FBXL4
|
0 |
1
|
3
|
2
|
5
|
11
|
GAREM2, HADHA
|
1
|
2
|
8
|
0 |
0 |
11
|
GATA2
|
4
|
4
|
3
|
0 |
0 |
11
|
KIF1B
|
0 |
0 |
11
|
0 |
0 |
11
|
LOC101927055, TTN
|
0 |
0 |
11
|
0 |
0 |
11
|
LRPPRC
|
0 |
0 |
3
|
1
|
7
|
11
|
MECP2
|
5
|
2
|
4
|
0 |
0 |
11
|
NDRG1
|
0 |
1
|
10
|
0 |
0 |
11
|
RELN
|
0 |
0 |
11
|
0 |
0 |
11
|
SCP2
|
0 |
0 |
2
|
1
|
8
|
11
|
SERPINC1
|
4
|
5
|
2
|
0 |
0 |
11
|
SLC19A3
|
1
|
0 |
5
|
0 |
5
|
11
|
SLC27A5
|
0 |
0 |
11
|
0 |
0 |
11
|
STRC
|
1
|
3
|
7
|
0 |
0 |
11
|
SUGCT
|
0 |
0 |
1
|
1
|
9
|
11
|
TECPR2
|
0 |
0 |
11
|
0 |
0 |
11
|
TRAP1
|
0 |
0 |
2
|
3
|
6
|
11
|
VPS13D
|
0 |
0 |
11
|
0 |
0 |
11
|
AFG3L2
|
0 |
0 |
5
|
0 |
5
|
10
|
AGA
|
0 |
1
|
2
|
3
|
4
|
10
|
AP4M1
|
1
|
1
|
8
|
0 |
0 |
10
|
APTX
|
0 |
0 |
3
|
1
|
6
|
10
|
BSCL2, HNRNPUL2-BSCL2
|
1
|
0 |
9
|
0 |
0 |
10
|
CACNA1C
|
1
|
0 |
9
|
0 |
0 |
10
|
CC2D2A
|
2
|
0 |
8
|
0 |
0 |
10
|
CLCN1
|
6
|
0 |
4
|
0 |
0 |
10
|
CSF3R
|
0 |
2
|
8
|
0 |
0 |
10
|
CYP7B1
|
1
|
1
|
8
|
0 |
0 |
10
|
DLAT
|
0 |
0 |
2
|
1
|
7
|
10
|
DYNC1H1
|
0 |
0 |
10
|
0 |
0 |
10
|
EARS2
|
0 |
0 |
2
|
2
|
6
|
10
|
ERCC8
|
0 |
1
|
9
|
0 |
0 |
10
|
FA2H
|
0 |
2
|
8
|
0 |
0 |
10
|
FAH
|
3
|
1
|
6
|
0 |
0 |
10
|
FANCA, ZNF276
|
1
|
0 |
9
|
0 |
0 |
10
|
FGG
|
4
|
4
|
3
|
0 |
0 |
10
|
FKTN
|
0 |
0 |
10
|
0 |
0 |
10
|
GH-LCR, SCN4A
|
2
|
1
|
7
|
0 |
0 |
10
|
HADHB
|
0 |
0 |
10
|
0 |
0 |
10
|
HEXB
|
2
|
0 |
4
|
0 |
4
|
10
|
HYCC1
|
0 |
1
|
9
|
0 |
0 |
10
|
IBA57
|
0 |
1
|
4
|
3
|
2
|
10
|
KCNQ2
|
3
|
2
|
5
|
0 |
0 |
10
|
LAMA4
|
0 |
0 |
10
|
0 |
0 |
10
|
LIPA
|
1
|
1
|
3
|
2
|
3
|
10
|
LOC102724058, SCN1A
|
2
|
3
|
5
|
0 |
0 |
10
|
LOC126863160, NAGA
|
0 |
1
|
8
|
0 |
1
|
10
|
LOC130065345, PANK2
|
0 |
0 |
3
|
3
|
4
|
10
|
MCOLN1
|
0 |
0 |
2
|
4
|
4
|
10
|
MTO1
|
0 |
0 |
7
|
0 |
3
|
10
|
NLRP12
|
0 |
0 |
10
|
0 |
0 |
10
|
OGDH
|
0 |
0 |
1
|
2
|
7
|
10
|
PEX5
|
0 |
0 |
3
|
2
|
5
|
10
|
PHKA1
|
0 |
1
|
7
|
1
|
1
|
10
|
POMT1
|
0 |
0 |
10
|
0 |
0 |
10
|
QARS1
|
0 |
0 |
10
|
0 |
0 |
10
|
SARS2
|
0 |
0 |
3
|
3
|
4
|
10
|
SH3BP2
|
0 |
0 |
10
|
0 |
0 |
10
|
SLC12A6
|
0 |
0 |
10
|
0 |
0 |
10
|
SLC17A5
|
0 |
1
|
6
|
1
|
2
|
10
|
SLC22A5
|
4
|
1
|
5
|
0 |
0 |
10
|
TNNT2
|
3
|
0 |
7
|
0 |
0 |
10
|
UROD
|
2
|
4
|
4
|
0 |
0 |
10
|
USB1
|
0 |
0 |
10
|
0 |
0 |
10
|
WASHC5
|
0 |
0 |
10
|
0 |
0 |
10
|
AARS1
|
0 |
0 |
9
|
0 |
0 |
9
|
ABCB7
|
0 |
0 |
2
|
2
|
5
|
9
|
AGRN
|
0 |
0 |
9
|
0 |
0 |
9
|
CFD
|
0 |
0 |
9
|
0 |
0 |
9
|
CFHR1
|
0 |
2
|
7
|
0 |
0 |
9
|
CFHR3
|
0 |
0 |
9
|
0 |
0 |
9
|
COL4A3, MFF-DT
|
1
|
1
|
7
|
0 |
0 |
9
|
COQ6, ENTPD5
|
0 |
0 |
6
|
0 |
3
|
9
|
CYP27A1
|
3
|
0 |
6
|
0 |
0 |
9
|
DEPDC5
|
0 |
2
|
7
|
0 |
0 |
9
|
DNM1L
|
0 |
0 |
1
|
2
|
6
|
9
|
ERBB3
|
0 |
0 |
9
|
0 |
0 |
9
|
FGA
|
4
|
3
|
2
|
0 |
0 |
9
|
GBA2
|
0 |
0 |
9
|
0 |
0 |
9
|
GDAP1
|
2
|
0 |
7
|
0 |
0 |
9
|
HADHA
|
0 |
0 |
9
|
0 |
0 |
9
|
MARS1
|
0 |
0 |
9
|
0 |
0 |
9
|
MBD5
|
0 |
0 |
8
|
0 |
1
|
9
|
NT5C3A
|
0 |
1
|
8
|
0 |
0 |
9
|
PANK2
|
2
|
0 |
1
|
2
|
4
|
9
|
PDSS2
|
0 |
0 |
7
|
0 |
2
|
9
|
PGK1
|
0 |
0 |
7
|
1
|
1
|
9
|
PKP2
|
1
|
0 |
8
|
0 |
0 |
9
|
POLE
|
0 |
0 |
9
|
0 |
0 |
9
|
PSAP
|
0 |
0 |
3
|
0 |
6
|
9
|
RARS2
|
0 |
0 |
1
|
4
|
4
|
9
|
RHAG
|
1
|
0 |
8
|
0 |
0 |
9
|
SCN1A
|
6
|
1
|
2
|
0 |
0 |
9
|
SELENON
|
2
|
1
|
6
|
0 |
0 |
9
|
SOS1
|
3
|
0 |
6
|
0 |
0 |
9
|
TARS2
|
0 |
0 |
2
|
2
|
5
|
9
|
TJP2
|
0 |
0 |
9
|
0 |
0 |
9
|
TRIM37
|
0 |
0 |
4
|
4
|
1
|
9
|
TRIOBP
|
0 |
2
|
7
|
0 |
0 |
9
|
TRMU
|
0 |
0 |
1
|
1
|
7
|
9
|
TYMP
|
1
|
1
|
5
|
2
|
0 |
9
|
AARS2, POLR1C
|
0 |
0 |
3
|
2
|
3
|
8
|
ADGRG6
|
0 |
0 |
8
|
0 |
0 |
8
|
AMPD1
|
0 |
1
|
4
|
1
|
2
|
8
|
ASIC4, SPEG
|
0 |
1
|
7
|
0 |
0 |
8
|
ASTN2, TRIM32
|
0 |
0 |
8
|
0 |
0 |
8
|
CA5A
|
0 |
0 |
1
|
2
|
5
|
8
|
CFTR, LOC111674477
|
1
|
0 |
7
|
0 |
0 |
8
|
COQ4
|
2
|
0 |
3
|
1
|
2
|
8
|
CTC1
|
2
|
1
|
5
|
0 |
0 |
8
|
DES
|
0 |
0 |
8
|
0 |
0 |
8
|
DGUOK
|
0 |
1
|
4
|
1
|
2
|
8
|
EGR2
|
0 |
0 |
8
|
0 |
0 |
8
|
EPM2A
|
0 |
1
|
4
|
2
|
1
|
8
|
EPM2A, EPM2A-DT, LOC129997381
|
0 |
0 |
4
|
1
|
3
|
8
|
FGD4
|
0 |
2
|
6
|
0 |
0 |
8
|
FH
|
0 |
1
|
3
|
1
|
3
|
8
|
HARS1
|
0 |
0 |
8
|
0 |
0 |
8
|
HGSNAT
|
0 |
1
|
1
|
1
|
5
|
8
|
IDUA, SLC26A1
|
0 |
0 |
3
|
1
|
4
|
8
|
INF2
|
1
|
0 |
7
|
0 |
0 |
8
|
LAMP2
|
0 |
0 |
3
|
2
|
3
|
8
|
LDB3
|
0 |
0 |
8
|
0 |
0 |
8
|
LOC130067862, SCO2, TYMP
|
0 |
1
|
2
|
1
|
4
|
8
|
LPIN2
|
0 |
0 |
8
|
0 |
0 |
8
|
MFSD8
|
0 |
1
|
2
|
2
|
3
|
8
|
MTRFR
|
1
|
0 |
5
|
1
|
1
|
8
|
MTTP
|
0 |
0 |
8
|
0 |
0 |
8
|
MYH11
|
0 |
0 |
8
|
0 |
0 |
8
|
MYH6
|
0 |
0 |
8
|
0 |
0 |
8
|
MYO15A
|
0 |
3
|
5
|
0 |
0 |
8
|
NDUFAF1
|
0 |
0 |
1
|
1
|
6
|
8
|
NHLRC1
|
0 |
0 |
5
|
0 |
3
|
8
|
NRXN1
|
0 |
0 |
8
|
0 |
0 |
8
|
OTOG
|
0 |
2
|
6
|
0 |
0 |
8
|
PCDH15
|
0 |
0 |
8
|
0 |
0 |
8
|
POMGNT1, TSPAN1
|
1
|
0 |
7
|
0 |
0 |
8
|
RAF1
|
4
|
2
|
2
|
0 |
0 |
8
|
SCN8A
|
0 |
2
|
6
|
0 |
0 |
8
|
SLC25A46
|
0 |
0 |
8
|
0 |
0 |
8
|
SLC5A7
|
0 |
0 |
8
|
0 |
0 |
8
|
SPEG
|
0 |
0 |
8
|
0 |
0 |
8
|
SPINK1
|
0 |
1
|
7
|
0 |
0 |
8
|
STXBP2
|
0 |
1
|
7
|
0 |
0 |
8
|
SUCLA2
|
0 |
0 |
3
|
1
|
4
|
8
|
TMEM70
|
1
|
0 |
1
|
2
|
4
|
8
|
TTC7A
|
0 |
0 |
8
|
0 |
0 |
8
|
USH2A
|
2
|
0 |
6
|
0 |
0 |
8
|
VCL
|
0 |
0 |
8
|
0 |
0 |
8
|
VPS13C
|
0 |
1
|
7
|
0 |
0 |
8
|
AASS
|
0 |
0 |
4
|
1
|
2
|
7
|
ADSL
|
0 |
0 |
7
|
0 |
0 |
7
|
BCS1L
|
0 |
1
|
2
|
1
|
3
|
7
|
CFB
|
0 |
0 |
7
|
0 |
0 |
7
|
CHD7
|
1
|
0 |
6
|
0 |
0 |
7
|
COA8
|
0 |
1
|
2
|
0 |
4
|
7
|
CRB2
|
0 |
0 |
7
|
0 |
0 |
7
|
DDHD2
|
0 |
1
|
6
|
0 |
0 |
7
|
DNM2
|
0 |
0 |
7
|
0 |
0 |
7
|
DOCK8
|
0 |
0 |
7
|
0 |
0 |
7
|
FUCA1
|
0 |
0 |
2
|
0 |
5
|
7
|
GJB1
|
5
|
0 |
2
|
0 |
0 |
7
|
GM2A
|
0 |
0 |
0 |
1
|
6
|
7
|
GNPTG
|
0 |
0 |
4
|
3
|
0 |
7
|
GNS
|
0 |
0 |
1
|
2
|
4
|
7
|
GYPC
|
0 |
0 |
7
|
0 |
0 |
7
|
HAX1
|
1
|
0 |
6
|
0 |
0 |
7
|
HBB, LOC107133510, LOC110006319
|
6
|
1
|
0 |
0 |
0 |
7
|
HMOX1
|
0 |
0 |
7
|
0 |
0 |
7
|
IDS, LOC106050102
|
0 |
0 |
2
|
1
|
4
|
7
|
ISCU
|
0 |
0 |
1
|
3
|
3
|
7
|
KCTD7
|
0 |
0 |
1
|
4
|
2
|
7
|
LOC126859646, VARS2
|
0 |
0 |
4
|
0 |
3
|
7
|
MAP2K2
|
0 |
0 |
7
|
0 |
0 |
7
|
MTMR2
|
0 |
0 |
7
|
0 |
0 |
7
|
NCAPH2, SCO2
|
0 |
1
|
5
|
0 |
1
|
7
|
NDUFA10
|
0 |
0 |
2
|
1
|
4
|
7
|
NEU1
|
1
|
0 |
2
|
2
|
2
|
7
|
NLRP3
|
0 |
1
|
6
|
0 |
0 |
7
|
NUBPL
|
0 |
1
|
4
|
2
|
0 |
7
|
PAH
|
7
|
0 |
0 |
0 |
0 |
7
|
PC
|
0 |
0 |
1
|
2
|
4
|
7
|
PEPD
|
1
|
0 |
6
|
0 |
0 |
7
|
PEX14
|
0 |
0 |
1
|
2
|
4
|
7
|
PEX16
|
0 |
0 |
2
|
1
|
4
|
7
|
PEX26
|
0 |
0 |
6
|
0 |
1
|
7
|
PMM2
|
5
|
2
|
0 |
0 |
0 |
7
|
PNPT1
|
0 |
0 |
1
|
1
|
5
|
7
|
SCARB2
|
0 |
0 |
7
|
0 |
0 |
7
|
SDHA
|
1
|
1
|
5
|
0 |
0 |
7
|
SERPINA1
|
3
|
0 |
4
|
0 |
0 |
7
|
SLC2A2
|
0 |
0 |
2
|
0 |
5
|
7
|
SLC39A13
|
0 |
0 |
7
|
0 |
0 |
7
|
SLC52A2
|
0 |
0 |
5
|
1
|
1
|
7
|
SNAP29
|
0 |
0 |
7
|
0 |
0 |
7
|
SOD1
|
2
|
2
|
3
|
0 |
0 |
7
|
TBC1D24
|
1
|
0 |
6
|
0 |
0 |
7
|
TNFRSF1A
|
0 |
0 |
7
|
0 |
0 |
7
|
WWOX
|
0 |
0 |
7
|
0 |
0 |
7
|
XPC
|
0 |
0 |
7
|
0 |
0 |
7
|
ABCG5
|
0 |
0 |
6
|
0 |
0 |
6
|
ABHD14A-ACY1, ACY1
|
1
|
0 |
5
|
0 |
0 |
6
|
ACO2
|
0 |
0 |
3
|
1
|
2
|
6
|
ADCY6
|
0 |
0 |
6
|
0 |
0 |
6
|
ADGRG1
|
0 |
1
|
5
|
0 |
0 |
6
|
AEBP1
|
1
|
0 |
5
|
0 |
0 |
6
|
AOPEP, FANCC
|
0 |
0 |
6
|
0 |
0 |
6
|
AP3B1
|
0 |
0 |
6
|
0 |
0 |
6
|
ATP5F1A
|
1
|
0 |
1
|
1
|
3
|
6
|
ATP8B1
|
0 |
0 |
6
|
0 |
0 |
6
|
AUH
|
0 |
0 |
3
|
1
|
2
|
6
|
CFHR2
|
0 |
0 |
6
|
0 |
0 |
6
|
CFHR4
|
0 |
0 |
6
|
0 |
0 |
6
|
COG7
|
0 |
0 |
6
|
0 |
0 |
6
|
COL4A4
|
1
|
1
|
4
|
0 |
0 |
6
|
CPOX
|
1
|
0 |
5
|
0 |
0 |
6
|
CYP2U1
|
0 |
0 |
6
|
0 |
0 |
6
|
DGKE
|
0 |
1
|
5
|
0 |
0 |
6
|
DHH
|
0 |
0 |
6
|
0 |
0 |
6
|
DNAH1
|
0 |
0 |
6
|
0 |
0 |
6
|
DOK7
|
1
|
0 |
5
|
0 |
0 |
6
|
DSC2
|
0 |
0 |
6
|
0 |
0 |
6
|
ETFB
|
0 |
0 |
4
|
0 |
2
|
6
|
F9
|
3
|
2
|
1
|
0 |
0 |
6
|
FASTKD2
|
0 |
0 |
3
|
2
|
1
|
6
|
FKBP14
|
1
|
1
|
4
|
0 |
0 |
6
|
GATAD1, PEX1
|
1
|
0 |
4
|
0 |
1
|
6
|
GJB2
|
5
|
0 |
1
|
0 |
0 |
6
|
GJC2
|
0 |
1
|
5
|
0 |
0 |
6
|
GNE
|
4
|
0 |
2
|
0 |
0 |
6
|
GRIN2A
|
0 |
1
|
5
|
0 |
0 |
6
|
HSPB1
|
2
|
0 |
4
|
0 |
0 |
6
|
IFNAR2-IL10RB, IL10RB
|
0 |
0 |
6
|
0 |
0 |
6
|
ITGB2
|
0 |
0 |
6
|
0 |
0 |
6
|
JAG1
|
2
|
3
|
1
|
0 |
0 |
6
|
KCNQ3
|
0 |
0 |
6
|
0 |
0 |
6
|
KIF5A
|
0 |
0 |
6
|
0 |
0 |
6
|
KLHL40
|
0 |
0 |
6
|
0 |
0 |
6
|
L1CAM
|
0 |
0 |
6
|
0 |
0 |
6
|
LAMB2
|
0 |
0 |
6
|
0 |
0 |
6
|
LOC101928008, SBF2
|
0 |
0 |
6
|
0 |
0 |
6
|
LOC110806306, TERC
|
1
|
0 |
5
|
0 |
0 |
6
|
MED25
|
0 |
0 |
6
|
0 |
0 |
6
|
MEGF10
|
0 |
0 |
6
|
0 |
0 |
6
|
MPV17
|
1
|
1
|
4
|
0 |
0 |
6
|
MYH11, NDE1
|
0 |
0 |
6
|
0 |
0 |
6
|
MYH2, MYHAS
|
0 |
0 |
6
|
0 |
0 |
6
|
NAGA
|
1
|
0 |
2
|
0 |
3
|
6
|
NDUFAF5
|
0 |
0 |
0 |
3
|
3
|
6
|
NDUFAF6
|
0 |
0 |
1
|
2
|
3
|
6
|
NEB, RIF1
|
0 |
0 |
6
|
0 |
0 |
6
|
NEFH
|
0 |
0 |
6
|
0 |
0 |
6
|
NOTCH2
|
0 |
0 |
6
|
0 |
0 |
6
|
NPHP3, NPHP3-ACAD11
|
0 |
0 |
6
|
0 |
0 |
6
|
PALB2
|
1
|
0 |
5
|
0 |
0 |
6
|
PCSK9
|
1
|
0 |
5
|
0 |
0 |
6
|
PDSS1
|
0 |
0 |
2
|
2
|
2
|
6
|
PDZD9, UQCRC2
|
0 |
0 |
0 |
2
|
4
|
6
|
PEX3
|
0 |
0 |
1
|
0 |
5
|
6
|
PPOX
|
3
|
3
|
0 |
0 |
0 |
6
|
RPS19
|
0 |
1
|
5
|
0 |
0 |
6
|
RTN2
|
0 |
1
|
5
|
0 |
0 |
6
|
SCN9A
|
0 |
0 |
6
|
0 |
0 |
6
|
SPTAN1
|
0 |
0 |
6
|
0 |
0 |
6
|
WIPF1
|
0 |
0 |
6
|
0 |
0 |
6
|
ZAP70
|
0 |
0 |
6
|
0 |
0 |
6
|
ABCC9
|
0 |
0 |
5
|
0 |
0 |
5
|
ACADM
|
3
|
0 |
2
|
0 |
0 |
5
|
AP4E1
|
0 |
0 |
5
|
0 |
0 |
5
|
ATL1
|
0 |
2
|
3
|
0 |
0 |
5
|
BDP1
|
0 |
0 |
5
|
0 |
0 |
5
|
BRAF
|
2
|
1
|
2
|
0 |
0 |
5
|
BVES
|
0 |
2
|
3
|
0 |
0 |
5
|
CDH23
|
0 |
1
|
4
|
0 |
0 |
5
|
CHST14
|
1
|
0 |
4
|
0 |
0 |
5
|
CLCF1, LOC100130987
|
0 |
0 |
5
|
0 |
0 |
5
|
CLN5, LOC130009913
|
0 |
0 |
1
|
2
|
2
|
5
|
CLN8
|
0 |
0 |
5
|
0 |
0 |
5
|
CLPP
|
0 |
0 |
1
|
1
|
3
|
5
|
COL4A5
|
4
|
1
|
0 |
0 |
0 |
5
|
COQ2, LOC112997540
|
0 |
0 |
1
|
2
|
2
|
5
|
CXCR4
|
2
|
0 |
3
|
0 |
0 |
5
|
CYC1
|
0 |
0 |
1
|
2
|
2
|
5
|
DCTN1
|
0 |
0 |
5
|
0 |
0 |
5
|
DNAH11
|
0 |
0 |
5
|
0 |
0 |
5
|
DNAH5
|
1
|
0 |
4
|
0 |
0 |
5
|
DNAJC5
|
0 |
0 |
1
|
1
|
3
|
5
|
DNASE1, TRAP1
|
0 |
0 |
2
|
1
|
2
|
5
|
DNMT1
|
0 |
0 |
5
|
0 |
0 |
5
|
ECH1
|
0 |
0 |
1
|
0 |
4
|
5
|
FANCG
|
0 |
0 |
5
|
0 |
0 |
5
|
FANCI, POLG
|
0 |
0 |
2
|
1
|
2
|
5
|
FGB
|
2
|
1
|
2
|
0 |
0 |
5
|
FOXRED1
|
0 |
0 |
3
|
1
|
1
|
5
|
GCLC
|
0 |
0 |
5
|
0 |
0 |
5
|
GNPAT
|
0 |
0 |
0 |
2
|
3
|
5
|
GRIN1
|
0 |
1
|
4
|
0 |
0 |
5
|
GYS1
|
0 |
0 |
2
|
1
|
2
|
5
|
HSD3B7
|
0 |
1
|
4
|
0 |
0 |
5
|
IARS2
|
0 |
0 |
1
|
1
|
3
|
5
|
KANSL1
|
0 |
1
|
4
|
0 |
0 |
5
|
KCNE1
|
0 |
1
|
4
|
0 |
0 |
5
|
KCNJ10
|
0 |
0 |
5
|
0 |
0 |
5
|
LAMA1
|
0 |
0 |
5
|
0 |
0 |
5
|
LARGE1
|
0 |
0 |
5
|
0 |
0 |
5
|
LIG4
|
1
|
0 |
4
|
0 |
0 |
5
|
LOC126806421, TTN
|
0 |
0 |
5
|
0 |
0 |
5
|
LOC126862264, MEFV
|
3
|
0 |
2
|
0 |
0 |
5
|
LOC129930446, MMACHC
|
1
|
1
|
3
|
0 |
0 |
5
|
LOC130005549, PDHX
|
0 |
0 |
0 |
1
|
4
|
5
|
LOXHD1
|
0 |
0 |
5
|
0 |
0 |
5
|
MC1R
|
0 |
0 |
5
|
0 |
0 |
5
|
MILR1, POLG2
|
0 |
0 |
1
|
1
|
3
|
5
|
MYO7A
|
0 |
0 |
5
|
0 |
0 |
5
|
MYOT, PKD2L2-DT
|
1
|
0 |
4
|
0 |
0 |
5
|
NCAPH2, SCO2, TYMP
|
0 |
0 |
0 |
1
|
4
|
5
|
NDUFV1
|
0 |
0 |
1
|
1
|
3
|
5
|
NEXN
|
0 |
0 |
5
|
0 |
0 |
5
|
NR1H4
|
0 |
1
|
4
|
0 |
0 |
5
|
OXCT1
|
0 |
0 |
1
|
2
|
2
|
5
|
PDHB
|
0 |
0 |
1
|
2
|
2
|
5
|
PEX13
|
0 |
0 |
4
|
1
|
0 |
5
|
PHGDH
|
0 |
0 |
5
|
0 |
0 |
5
|
PIGV
|
1
|
1
|
3
|
0 |
0 |
5
|
PMP22
|
2
|
0 |
3
|
0 |
0 |
5
|
PNPLA2
|
0 |
1
|
4
|
0 |
0 |
5
|
POMGNT2
|
0 |
0 |
5
|
0 |
0 |
5
|
POMT2
|
0 |
1
|
4
|
0 |
0 |
5
|
PRICKLE1
|
0 |
0 |
5
|
0 |
0 |
5
|
RAG1
|
1
|
1
|
3
|
0 |
0 |
5
|
RBCK1
|
0 |
1
|
4
|
0 |
0 |
5
|
RMND1
|
0 |
0 |
2
|
0 |
3
|
5
|
RRM2B
|
0 |
0 |
3
|
1
|
1
|
5
|
SBDS
|
2
|
0 |
3
|
0 |
0 |
5
|
SDHB
|
2
|
2
|
1
|
0 |
0 |
5
|
SKIC2
|
0 |
0 |
5
|
0 |
0 |
5
|
SKIC3
|
0 |
0 |
5
|
0 |
0 |
5
|
SLC10A1
|
0 |
1
|
4
|
0 |
0 |
5
|
SLC25A19
|
0 |
0 |
3
|
1
|
1
|
5
|
SPART
|
0 |
0 |
5
|
0 |
0 |
5
|
SQSTM1
|
0 |
1
|
4
|
0 |
0 |
5
|
SUCLG1
|
0 |
0 |
1
|
4
|
0 |
5
|
TAFAZZIN
|
2
|
0 |
3
|
0 |
0 |
5
|
TCAP
|
0 |
0 |
5
|
0 |
0 |
5
|
TENM4
|
0 |
0 |
5
|
0 |
0 |
5
|
TMEM126A
|
0 |
0 |
2
|
2
|
1
|
5
|
TMEM43
|
0 |
0 |
5
|
0 |
0 |
5
|
TNNI3
|
2
|
1
|
2
|
0 |
0 |
5
|
TRDN
|
0 |
1
|
4
|
0 |
0 |
5
|
TRIM2
|
0 |
0 |
5
|
0 |
0 |
5
|
TSFM
|
0 |
0 |
3
|
1
|
1
|
5
|
VPS33B
|
0 |
0 |
5
|
0 |
0 |
5
|
VPS45
|
0 |
0 |
5
|
0 |
0 |
5
|
WFS1
|
0 |
2
|
3
|
0 |
0 |
5
|
XPA
|
0 |
0 |
5
|
0 |
0 |
5
|
YARS2
|
0 |
1
|
0 |
2
|
2
|
5
|
ACADS
|
2
|
0 |
2
|
0 |
0 |
4
|
ACP2
|
0 |
0 |
1
|
2
|
1
|
4
|
AGPAT2
|
0 |
0 |
4
|
0 |
0 |
4
|
AGXT
|
3
|
1
|
0 |
0 |
0 |
4
|
ALDOB
|
2
|
0 |
2
|
0 |
0 |
4
|
ALG8
|
1
|
1
|
2
|
0 |
0 |
4
|
AP4B1
|
0 |
0 |
4
|
0 |
0 |
4
|
AP4S1
|
1
|
0 |
3
|
0 |
0 |
4
|
ASIC4, GMPPA
|
0 |
2
|
2
|
0 |
0 |
4
|
ATP1A2
|
0 |
0 |
4
|
0 |
0 |
4
|
ATP2A1
|
0 |
0 |
4
|
0 |
0 |
4
|
AUH, LOC130002059
|
0 |
1
|
2
|
0 |
1
|
4
|
BIN1
|
0 |
0 |
4
|
0 |
0 |
4
|
BRIP1
|
1
|
1
|
2
|
0 |
0 |
4
|
CARD14, SGSH
|
1
|
0 |
3
|
0 |
0 |
4
|
CATIP, PNKD
|
0 |
0 |
1
|
0 |
3
|
4
|
CCT5
|
0 |
0 |
4
|
0 |
0 |
4
|
CDAN1, LOC130056931
|
0 |
0 |
4
|
0 |
0 |
4
|
CDC14A
|
1
|
0 |
3
|
0 |
0 |
4
|
CDIN1
|
0 |
0 |
4
|
0 |
0 |
4
|
CHRNA4
|
0 |
0 |
4
|
0 |
0 |
4
|
COQ9
|
0 |
0 |
2
|
0 |
2
|
4
|
COX15
|
0 |
0 |
3
|
0 |
1
|
4
|
DCLRE1C
|
0 |
1
|
3
|
0 |
0 |
4
|
DNAH8
|
0 |
1
|
3
|
0 |
0 |
4
|
DTNA
|
0 |
0 |
4
|
0 |
0 |
4
|
EHHADH
|
0 |
0 |
4
|
0 |
0 |
4
|
ETHE1
|
0 |
0 |
2
|
1
|
1
|
4
|
FARS2
|
0 |
0 |
3
|
0 |
1
|
4
|
FBLN5
|
0 |
1
|
3
|
0 |
0 |
4
|
FBN1, LOC113939944
|
2
|
1
|
1
|
0 |
0 |
4
|
FBP1
|
1
|
0 |
3
|
0 |
0 |
4
|
FLNA, LOC107988032
|
0 |
0 |
4
|
0 |
0 |
4
|
FLVCR1
|
0 |
1
|
3
|
0 |
0 |
4
|
G6PC3
|
1
|
0 |
3
|
0 |
0 |
4
|
GALNS, LOC126862447
|
0 |
0 |
1
|
1
|
2
|
4
|
GAN
|
0 |
0 |
4
|
0 |
0 |
4
|
GFER
|
1
|
0 |
0 |
0 |
3
|
4
|
GNB4
|
0 |
0 |
4
|
0 |
0 |
4
|
HYAL1
|
0 |
0 |
1
|
0 |
3
|
4
|
ISG15
|
0 |
0 |
4
|
0 |
0 |
4
|
ITGA7
|
0 |
0 |
4
|
0 |
0 |
4
|
JUP
|
0 |
0 |
4
|
0 |
0 |
4
|
KCNJ2
|
1
|
0 |
3
|
0 |
0 |
4
|
KIT
|
0 |
0 |
4
|
0 |
0 |
4
|
KLF1, LOC117125591
|
1
|
0 |
3
|
0 |
0 |
4
|
KLLN, PTEN
|
0 |
0 |
4
|
0 |
0 |
4
|
L2HGDH
|
0 |
0 |
1
|
1
|
2
|
4
|
LAMA2, LOC123864065
|
0 |
0 |
4
|
0 |
0 |
4
|
LIAS
|
0 |
0 |
2
|
0 |
2
|
4
|
LOC106780803, TNXB
|
0 |
0 |
4
|
0 |
0 |
4
|
LOC126806422, TTN
|
0 |
0 |
4
|
0 |
0 |
4
|
LOC126806433, TTN
|
0 |
0 |
4
|
0 |
0 |
4
|
LOC126861898, MYH7
|
1
|
0 |
3
|
0 |
0 |
4
|
LOC129936056, SUMF1
|
0 |
0 |
3
|
0 |
1
|
4
|
LPIN1
|
0 |
1
|
3
|
0 |
0 |
4
|
LZTR1
|
0 |
0 |
4
|
0 |
0 |
4
|
MOCS1
|
0 |
0 |
4
|
0 |
0 |
4
|
NDUFA9
|
0 |
0 |
1
|
1
|
2
|
4
|
NDUFAF4
|
0 |
0 |
0 |
0 |
4
|
4
|
NEFL
|
0 |
0 |
4
|
0 |
0 |
4
|
NPHP1
|
0 |
0 |
4
|
0 |
0 |
4
|
OR10Z1, SPTA1
|
0 |
3
|
1
|
0 |
0 |
4
|
PEX2
|
0 |
0 |
3
|
0 |
1
|
4
|
PIK3CD
|
0 |
0 |
4
|
0 |
0 |
4
|
PLCB1
|
0 |
0 |
4
|
0 |
0 |
4
|
POLR2F, SOX10
|
0 |
1
|
3
|
0 |
0 |
4
|
PRSS1, TRB
|
4
|
0 |
0 |
0 |
0 |
4
|
RELN, SLC26A5
|
0 |
0 |
4
|
0 |
0 |
4
|
RETREG1
|
0 |
0 |
4
|
0 |
0 |
4
|
ROGDI
|
0 |
0 |
4
|
0 |
0 |
4
|
SERAC1
|
0 |
0 |
1
|
2
|
1
|
4
|
SETBP1
|
0 |
0 |
4
|
0 |
0 |
4
|
SFXN4
|
0 |
0 |
0 |
0 |
4
|
4
|
SGCA
|
0 |
2
|
2
|
0 |
0 |
4
|
SLC10A2
|
0 |
0 |
4
|
0 |
0 |
4
|
SLC25A1
|
1
|
0 |
0 |
2
|
1
|
4
|
SLC26A4
|
3
|
0 |
1
|
0 |
0 |
4
|
SLC7A7
|
0 |
0 |
4
|
0 |
0 |
4
|
SMAD3
|
0 |
1
|
3
|
0 |
0 |
4
|
SPTLC2
|
1
|
0 |
3
|
0 |
0 |
4
|
STAT1
|
1
|
0 |
3
|
0 |
0 |
4
|
TALDO1
|
0 |
0 |
4
|
0 |
0 |
4
|
TFG
|
0 |
0 |
4
|
0 |
0 |
4
|
TIA1
|
0 |
0 |
4
|
0 |
0 |
4
|
TMC1
|
1
|
0 |
3
|
0 |
0 |
4
|
TMEM67
|
1
|
0 |
3
|
0 |
0 |
4
|
TMPRSS3
|
2
|
0 |
2
|
0 |
0 |
4
|
TNFRSF13B
|
2
|
1
|
1
|
0 |
0 |
4
|
TTC19
|
0 |
0 |
3
|
0 |
1
|
4
|
TUBA8
|
0 |
0 |
4
|
0 |
0 |
4
|
VLDLR
|
0 |
0 |
4
|
0 |
0 |
4
|
VPS37A
|
0 |
0 |
4
|
0 |
0 |
4
|
WAS
|
0 |
2
|
2
|
0 |
0 |
4
|
WRN
|
0 |
1
|
3
|
0 |
0 |
4
|
YARS1
|
0 |
0 |
4
|
0 |
0 |
4
|
AAAS
|
2
|
0 |
1
|
0 |
0 |
3
|
ABCA1, NIPSNAP3B
|
0 |
0 |
3
|
0 |
0 |
3
|
ABCB6
|
0 |
0 |
3
|
0 |
0 |
3
|
ABCC2, LOC126861012
|
0 |
0 |
3
|
0 |
0 |
3
|
ABCD3
|
0 |
0 |
0 |
1
|
2
|
3
|
ACSF3
|
1
|
0 |
2
|
0 |
0 |
3
|
ADA
|
0 |
0 |
3
|
0 |
0 |
3
|
ADA2
|
2
|
0 |
1
|
0 |
0 |
3
|
AGPS
|
0 |
0 |
1
|
0 |
2
|
3
|
ALDH5A1
|
0 |
0 |
3
|
0 |
0 |
3
|
ALG13
|
0 |
0 |
3
|
0 |
0 |
3
|
ANK2, LOC126807136
|
0 |
0 |
3
|
0 |
0 |
3
|
ANKRD1
|
0 |
0 |
3
|
0 |
0 |
3
|
APOA1
|
1
|
0 |
2
|
0 |
0 |
3
|
ARSB, LOC129994126
|
0 |
0 |
1
|
2
|
0 |
3
|
ATPAF2
|
0 |
0 |
1
|
1
|
1
|
3
|
B3GALT6
|
0 |
0 |
3
|
0 |
0 |
3
|
B3GAT3
|
0 |
1
|
2
|
0 |
0 |
3
|
BARD1
|
0 |
0 |
3
|
0 |
0 |
3
|
BCKDHB
|
0 |
2
|
1
|
0 |
0 |
3
|
BICD2
|
1
|
0 |
2
|
0 |
0 |
3
|
BLM
|
1
|
1
|
1
|
0 |
0 |
3
|
BOLA3
|
0 |
0 |
2
|
1
|
0 |
3
|
CACNA1H
|
0 |
0 |
3
|
0 |
0 |
3
|
CACNB2
|
0 |
0 |
3
|
0 |
0 |
3
|
CAD
|
0 |
1
|
2
|
0 |
0 |
3
|
CARD14, LOC126862662, SGSH
|
0 |
0 |
3
|
0 |
0 |
3
|
CAT
|
0 |
0 |
0 |
0 |
3
|
3
|
CAVIN1
|
0 |
0 |
3
|
0 |
0 |
3
|
CBL
|
2
|
0 |
1
|
0 |
0 |
3
|
CD59
|
0 |
0 |
3
|
0 |
0 |
3
|
CDH23, PSAP
|
0 |
0 |
1
|
0 |
2
|
3
|
CDK5RAP2
|
0 |
0 |
3
|
0 |
0 |
3
|
CHRNA2
|
0 |
0 |
3
|
0 |
0 |
3
|
CNTNAP1, LOC128669077
|
0 |
0 |
3
|
0 |
0 |
3
|
COG8
|
0 |
0 |
3
|
0 |
0 |
3
|
COL11A1
|
1
|
0 |
2
|
0 |
0 |
3
|
COL11A2
|
0 |
0 |
3
|
0 |
0 |
3
|
COL9A1
|
0 |
0 |
3
|
0 |
0 |
3
|
CR2
|
1
|
0 |
2
|
0 |
0 |
3
|
CRLF1
|
0 |
0 |
3
|
0 |
0 |
3
|
CRTAP
|
0 |
0 |
3
|
0 |
0 |
3
|
CRYAB
|
0 |
0 |
3
|
0 |
0 |
3
|
CSF1R
|
0 |
0 |
3
|
0 |
0 |
3
|
CSRP3
|
0 |
0 |
3
|
0 |
0 |
3
|
CTSA, LOC130065974
|
0 |
0 |
1
|
2
|
0 |
3
|
DBNL, LOC129998342, PGAM2
|
0 |
0 |
0 |
2
|
1
|
3
|
DGUOK, LOC129934096
|
0 |
0 |
3
|
0 |
0 |
3
|
DHCR7
|
2
|
0 |
1
|
0 |
0 |
3
|
DIAPH1
|
0 |
0 |
3
|
0 |
0 |
3
|
DMAC2L, L2HGDH
|
0 |
0 |
1
|
1
|
1
|
3
|
DNAJC12
|
0 |
0 |
3
|
0 |
0 |
3
|
EEF1A2
|
0 |
0 |
3
|
0 |
0 |
3
|
ERLIN2
|
0 |
0 |
3
|
0 |
0 |
3
|
F10
|
1
|
1
|
1
|
0 |
0 |
3
|
F13A1
|
2
|
1
|
0 |
0 |
0 |
3
|
FANCA, LOC112486223
|
2
|
0 |
1
|
0 |
0 |
3
|
FANCC
|
1
|
0 |
2
|
0 |
0 |
3
|
FARS2, LOC126859565
|
0 |
0 |
2
|