MSeqDR Master Exome Data Set M1: 145 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
12
4714210
C
A
ENST00000536588
ENSG00000139180
4758261
4798454
ENSP00000445121
NDUFA9
1
-
c.101C>A
p.S34Y
non-syn
NA
-
-
lod=41:366
TOLERATED
D
-
het
1
2
12
4740515
A
T
ENST00000536588
ENSG00000139180
4758261
4798454
ENSP00000445121
NDUFA9
1
-
-
-
3'_UTR
rs11063270
0.344
-
-
-
-
-
het
68
3
12
4740515
A
T
ENST00000536588
ENSG00000139180
4758261
4798454
ENSP00000445121
NDUFA9
1
-
-
-
3'_UTR
rs11063270
0.344
-
-
-
-
-
hom
6
4
12
4758276
G
A
ENST00000266544
ENSG00000139180
4758261
4798454
ENSP00000266544
NDUFA9
1
NDUA9_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
5
12
4758276
G
A
ENST00000539573
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.16G>A
p.G6R
non-syn
NA
-
-
-
-
-
-
het
1
6
12
4758305
G
C
ENST00000266544
ENSG00000139180
4758261
4798454
ENSP00000266544
NDUFA9
1
NDUA9_HUMAN
c.13G>C
p.A5P
non-syn
rs35155742
0.0212
C=0/G=8600;C=168/G=4238;C=168/G=12838
-
TOLERATED
B
-
het
1
7
12
4758305
G
C
ENST00000396655
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.23G>C
p.R8P
non-syn
rs35155742
0.0212
C=0/G=8600;C=168/G=4238;C=168/G=12838
-
TOLERATED
B
-
het
1
8
12
4758305
G
C
ENST00000539573
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.45G>C
p.P15P
syn
rs35155742
0.0212
C=0/G=8600;C=168/G=4238;C=168/G=12838
-
TOLERATED
B
-
het
1
9
12
4758305
G
C
ENST00000542369
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.25G>C
p.A9P
non-syn
rs35155742
0.0212
C=0/G=8600;C=168/G=4238;C=168/G=12838
-
TOLERATED
B
-
het
1
10
12
4758305
G
C
ENST00000544679
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.21G>C
p.P7P
syn
rs35155742
0.0212
C=0/G=8600;C=168/G=4238;C=168/G=12838
-
TOLERATED
B
-
het
1
11
12
4763536
A
G
ENST00000266544
ENSG00000139180
4758261
4798454
ENSP00000266544
NDUFA9
1
NDUA9_HUMAN
c.128A>G
p.H43R
non-syn
NA
-
-
lod=175:521
TOLERATED
P
-
het
1
12
12
4763536
A
G
ENST00000396655
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.138A>G
p.S46S
syn
NA
-
-
lod=175:521
TOLERATED
P
-
het
1
13
12
4763536
A
G
ENST00000535050
ENSG00000139180
4758261
4798454
ENSP00000440305
NDUFA9
1
-
c.194A>G
p.H65R
non-syn
NA
-
-
lod=175:521
TOLERATED
P
-
het
1
14
12
4763536
A
G
ENST00000536588
ENSG00000139180
4758261
4798454
ENSP00000445121
NDUFA9
1
-
-
-
3'_UTR
NA
-
-
lod=175:521
TOLERATED
P
-
het
1
15
12
4763536
A
G
ENST00000542369
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.140A>G
p.H47R
non-syn
NA
-
-
lod=175:521
TOLERATED
P
-
het
1
16
12
4763536
A
G
ENST00000544679
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.136A>G
p.M46V
non-syn
NA
-
-
lod=175:521
TOLERATED
P
-
het
1
17
12
4763575
C
T
ENST00000266544
ENSG00000139180
4758261
4798454
ENSP00000266544
NDUFA9
1
NDUA9_HUMAN
c.167C>T
p.A56V
non-syn
rs200951099
-
-
lod=131:490
DAMAGING
P
-
het
1
18
12
4763575
C
T
ENST00000396655
ENSG00000139180
4758261
4798454
-
NDUFA9
1
-
c.177C>T
p.G59G
syn
rs200951099
-
-
lod=131:490
DAMAGING
P
-
het
1
19
12
4763575
C
T
ENST00000535050
ENSG00000139180
4758261
4798454
ENSP00000440305
NDUFA9
1
-
c.233C>T
p.A78V
non-syn
rs200951099
-
-
lod=131:490
DAMAGING
P
-
het
1
20
12
4763575
C
T
ENST00000536588
ENSG00000139180
4758261
4798454
ENSP00000445121
NDUFA9
1
-
-
-
3'_UTR
rs200951099
-
-
lod=131:490
DAMAGING
P
-
het
1
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