MSeqDR Master Exome Data Set M1: 139 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
2
74153976
C
+AGCG
ENST00000264093
ENSG00000114956
74153953
74186088
ENSP00000264093
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
6
2
2
74153976
C
+AGCG
ENST00000348222
ENSG00000114956
74153953
74186088
ENSP00000306964
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
6
3
2
74153990
G
A
ENST00000264093
ENSG00000114956
74153953
74186088
ENSP00000264093
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
rs10186730
0.0921
A=5/G=8595;A=654/G=3752;A=659/G=12347
lod=21:295
-
-
-
het
11
4
2
74153990
G
A
ENST00000264093
ENSG00000114956
74153953
74186088
ENSP00000264093
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
rs10186730
0.0921
A=5/G=8595;A=654/G=3752;A=659/G=12347
lod=21:295
-
-
-
hom
1
5
2
74153990
G
A
ENST00000348222
ENSG00000114956
74153953
74186088
ENSP00000306964
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
rs10186730
0.0921
A=5/G=8595;A=654/G=3752;A=659/G=12347
lod=21:295
-
-
-
het
11
6
2
74153990
G
A
ENST00000348222
ENSG00000114956
74153953
74186088
ENSP00000306964
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
rs10186730
0.0921
A=5/G=8595;A=654/G=3752;A=659/G=12347
lod=21:295
-
-
-
hom
1
7
2
74154033
G
T
ENST00000264093
ENSG00000114956
74153953
74186088
ENSP00000264093
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
NA
-
-
lod=27:321
-
-
-
het
1
8
2
74154033
G
T
ENST00000348222
ENSG00000114956
74153953
74186088
ENSP00000306964
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
NA
-
-
lod=27:321
-
-
-
het
1
9
2
74154033
G
T
ENST00000418996
ENSG00000114956
74153953
74186088
ENSP00000408209
DGUOK
1
-
-
-
5'_UTR
NA
-
-
lod=27:321
-
-
-
het
1
10
2
74154033
G
T
ENST00000462551
ENSG00000114956
74153953
74186088
-
DGUOK
1
-
c.14G>T
p.G5V
non-syn
NA
-
-
lod=27:321
-
-
-
het
1
11
2
74154033
G
T
ENST00000462685
ENSG00000114956
74153953
74186088
-
DGUOK
1
-
c.10G>T
p.V4L
non-syn
NA
-
-
lod=27:321
-
-
-
het
1
12
2
74154033
G
T
ENST00000489796
ENSG00000114956
74153953
74186088
-
DGUOK
1
-
c.13G>T
p.V5L
non-syn
NA
-
-
lod=27:321
-
-
-
het
1
13
2
74154037
G
A
ENST00000264093
ENSG00000114956
74153953
74186088
ENSP00000264093
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
NA
-
-
lod=27:321
-
-
-
het
1
14
2
74154037
G
A
ENST00000348222
ENSG00000114956
74153953
74186088
ENSP00000306964
DGUOK
1
DGUOK_HUMAN
-
-
5'_UTR
NA
-
-
lod=27:321
-
-
-
het
1
15
2
74154037
G
A
ENST00000356837
ENSG00000114956
74153953
74186088
ENSP00000349294
DGUOK
1
-
-
-
5'_UTR
NA
-
-
lod=27:321
-
-
-
het
1
16
2
74154037
G
A
ENST00000418996
ENSG00000114956
74153953
74186088
ENSP00000408209
DGUOK
1
-
-
-
5'_UTR
NA
-
-
lod=27:321
-
-
-
het
1
17
2
74154037
G
A
ENST00000462551
ENSG00000114956
74153953
74186088
-
DGUOK
1
-
c.18G>A
p.G6G
syn
NA
-
-
lod=27:321
-
-
-
het
1
18
2
74154037
G
A
ENST00000462685
ENSG00000114956
74153953
74186088
-
DGUOK
1
-
c.14G>A
p.G5E
non-syn
NA
-
-
lod=27:321
-
-
-
het
1
19
2
74154037
G
A
ENST00000489796
ENSG00000114956
74153953
74186088
-
DGUOK
1
-
c.17G>A
p.G6E
non-syn
NA
-
-
lod=27:321
-
-
-
het
1
20
2
74154037
G
A
ENST00000493055
ENSG00000114956
74153953
74186088
-
DGUOK
1
-
c.3G>A
p.G1G
syn
NA
-
-
lod=27:321
-
-
-
het
1
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