MSeqDR Master Exome Data Set M1: 86 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
M
3308
T
C
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.2T>C
p.M1T
non-syn
rs28358582
-
-
lod=13:243
-
-
HGMD
hom
2
2
M
3316
G
A
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.10G>A
p.A4T
non-syn
rs2853516
-
-
-
-
-
-
hom
1
3
M
3338
T
C
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.32T>C
p.V11A
non-syn
NA
-
-
-
-
-
-
hom
2
4
M
3348
A
G
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.42A>G
p.L14L
syn
rs112459719
-
-
-
-
-
-
hom
3
5
M
3350
T
C
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.44T>C
p.I15T
non-syn
NA
-
-
-
-
-
-
hom
2
6
M
3355
A
G
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.49A>G
p.M17V
non-syn
NA
-
-
lod=35:349
-
-
-
hom
4
7
M
3357
G
A
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.51G>A
p.M17M
syn
NA
-
-
lod=35:349
-
-
-
hom
10
8
M
3360
A
G
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.54A>G
p.A18A
syn
NA
-
-
lod=35:349
-
-
-
hom
3
9
M
3394
T
C
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.88T>C
p.T30H
non-syn
rs41460449
-
-
lod=42:369
-
-
HGMD
hom
4
10
M
3396
T
C
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.90T>C
p.T30T
syn
NA
-
-
lod=42:369
-
-
-
hom
4
11
M
3397
A
G
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.91A>G
p.M31V
non-syn
NA
-
-
lod=42:369
-
-
HGMD
hom
1
12
M
3398
T
C
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.92T>C
p.M31T
non-syn
NA
-
-
lod=42:369
-
-
-
hom
7
13
M
3398
T
C
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.92T>C
p.M31T
non-syn
NA
-
-
lod=42:369
-
-
-
het
1
14
M
3421
G
A
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.115G>A
p.V39I
non-syn
rs113710445
-
-
-
-
-
-
hom
1
15
M
3438
G
A
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.132G>A
p.G44G
syn
NA
-
-
lod=22:300
-
-
-
hom
7
16
M
3447
A
G
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.141A>G
p.Q47Q
syn
NA
-
-
lod=42:369
-
-
-
hom
4
17
M
3450
C
T
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.144C>T
p.P48P
syn
rs28358583
-
-
lod=42:369
-
-
-
hom
2
18
M
3456
T
C
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.150T>C
p.A50A
syn
NA
-
-
lod=23:304
-
-
-
hom
1
19
M
3480
A
G
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.174A>G
p.K58K
syn
rs28358584
-
-
lod=53:393
-
-
-
hom
65
20
M
3505
A
G
ENST00000361390
ENSG00000198888
3307
4262
ENSP00000354687
MT-ND1
1
NU1M_HUMAN
c.199A>G
p.T67A
non-syn
rs28358585
-
-
-
-
-
-
hom
16
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