MSeqDR Master Exome Data Set M1: 577 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
19
1383528
T
C
ENST00000546283
ENSG00000115286
1383526
1395583
ENSP00000440348
NDUFS7
1
-
-
-
5'_UTR
rs180738789
0.0017
-
-
-
-
-
het
1
2
19
1383550
G
C
ENST00000546283
ENSG00000115286
1383526
1395583
ENSP00000440348
NDUFS7
1
-
-
-
5'_UTR
rs117758624
0.0371
-
-
-
-
-
het
19
3
19
1383561
C
T
ENST00000546283
ENSG00000115286
1383526
1395583
ENSP00000440348
NDUFS7
1
-
-
-
5'_UTR
rs115444924
0.0211
-
lod=291:576
-
-
-
het
2
4
19
1383572
C
T
ENST00000546283
ENSG00000115286
1383526
1395583
ENSP00000440348
NDUFS7
1
-
-
-
5'_UTR
rs150413306
0.0011
-
lod=291:576
-
-
-
het
1
5
19
1383582
T
G
ENST00000546283
ENSG00000115286
1383526
1395583
ENSP00000440348
NDUFS7
1
-
-
-
5'_UTR
rs138144610
0.0045
-
lod=291:576
-
-
-
het
2
6
19
1383643
A
G
ENST00000233627
ENSG00000115286
1383526
1395583
ENSP00000233627
NDUFS7
1
NDUS7_HUMAN
-
-
5'_UTR
rs114400263
0.0374
-
-
-
-
-
het
1
7
19
1383649
G
T
ENST00000233627
ENSG00000115286
1383526
1395583
ENSP00000233627
NDUFS7
1
NDUS7_HUMAN
-
-
5'_UTR
rs3848638
0.4416
-
-
-
-
-
het
160
8
19
1383649
G
T
ENST00000233627
ENSG00000115286
1383526
1395583
ENSP00000233627
NDUFS7
1
NDUS7_HUMAN
-
-
5'_UTR
rs3848638
0.4416
-
-
-
-
-
hom
96
9
19
1383682
C
T
ENST00000233627
ENSG00000115286
1383526
1395583
ENSP00000233627
NDUFS7
1
NDUS7_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
5
10
19
1383815
C
A
ENST00000233627
ENSG00000115286
1383526
1395583
ENSP00000233627
NDUFS7
1
NDUS7_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
11
19
1383815
C
A
ENST00000546283
ENSG00000115286
1383526
1395583
ENSP00000440348
NDUFS7
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
12
19
1384021
G
C
ENST00000543289
ENSG00000115286
1383526
1395583
-
NDUFS7
1
-
c.133G>C
p.G45R
non-syn
rs113443464
-
-
-
-
-
-
hom
1
13
19
1384021
G
C
ENST00000543289
ENSG00000115286
1383526
1395583
-
NDUFS7
1
-
c.133G>C
p.G45R
non-syn
rs113443464
-
-
-
-
-
-
het
3
14
19
1387857
G
C
ENST00000233627
ENSG00000115286
1383526
1395583
ENSP00000233627
NDUFS7
1
NDUS7_HUMAN
-
-
+11bp 5'_splice_site
NA
-
-
-
-
-
-
het
1
15
19
1387857
G
C
ENST00000313408
ENSG00000115286
1383526
1395583
ENSP00000364262
NDUFS7
1
-
-
-
+11bp 5'_splice_site
NA
-
-
-
-
-
-
het
1
16
19
1387857
G
C
ENST00000414651
ENSG00000115286
1383526
1395583
ENSP00000406630
NDUFS7
1
-
-
-
+11bp 5'_splice_site
NA
-
-
-
-
-
-
het
1
17
19
1387857
G
C
ENST00000436115
ENSG00000115286
1383526
1395583
-
NDUFS7
1
-
-
-
+11bp 5'_splice_site
NA
-
-
-
-
-
-
het
1
18
19
1387857
G
C
ENST00000534853
ENSG00000115286
1383526
1395583
ENSP00000442822
NDUFS7
1
-
-
-
+11bp 5'_splice_site
NA
-
-
-
-
-
-
het
1
19
19
1387857
G
C
ENST00000538523
ENSG00000115286
1383526
1395583
-
NDUFS7
1
-
-
-
+11bp 5'_splice_site
NA
-
-
-
-
-
-
het
1
20
19
1387857
G
C
ENST00000538662
ENSG00000115286
1383526
1395583
-
NDUFS7
1
-
-
-
+11bp 5'_splice_site
NA
-
-
-
-
-
-
het
1
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