MSeqDR Master Exome Data Set M1: 63 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
1
173793849
T
C
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
2
1
173793849
T
C
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
3
1
173793882
C
T
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
4
1
173793882
C
T
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
5
1
173794013
C
A
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
6
1
173794013
C
A
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
7
1
173794241
T
A
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
8
1
173794241
T
A
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
9
1
173794399
A
G
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
5'_UTR
NA
-
-
-
TOLERATED
B
-
het
1
10
1
173794399
A
G
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
c.32A>G
p.Y11C
non-syn
NA
-
-
-
TOLERATED
B
-
het
1
11
1
173795839
G
A
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
5'_UTR
NA
-
-
lod=59:405
TOLERATED
B
-
het
1
12
1
173795839
G
A
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
c.142G>A
p.V48I
non-syn
NA
-
-
lod=59:405
TOLERATED
B
-
het
1
13
1
173797451
T
-C
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
-19bp 3'_splice_site
NA
-
-
-
-
-
-
het
4
14
1
173797451
T
+C
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
-20bp 3'_splice_site
NA
-
-
-
-
-
-
het
1
15
1
173797451
T
C
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
-20bp 3'_splice_site
rs55878143
-
-
-
-
-
-
hom
4
16
1
173797451
T
-C
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
-
-
-19bp 3'_splice_site
NA
-
-
-
-
-
-
het
4
17
1
173797451
T
+C
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
-
-
-20bp 3'_splice_site
NA
-
-
-
-
-
-
het
1
18
1
173797451
T
C
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
-
-
-20bp 3'_splice_site
rs55878143
-
-
-
-
-
-
hom
4
19
1
173797504
T
C
ENST00000239457
ENSG00000117593
173793641
173827684
ENSP00000239457
DARS2
1
-
-
-
5'_UTR
rs182096636
0.00193
C=2/T=8598;C=0/T=4406;C=2/T=13004
lod=293:576
-
-
-
het
1
20
1
173797504
T
C
ENST00000361951
ENSG00000117593
173793641
173827684
ENSP00000355086
DARS2
1
SYDM_HUMAN
c.261T>C
p.D87D
syn
rs182096636
0.00193
C=2/T=8598;C=0/T=4406;C=2/T=13004
lod=293:576
-
-
-
het
1
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