MSeqDR Master Exome Data Set M1: 461 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
8
72109749
C
T
ENST00000303824
ENSG00000104313
72109668
72274467
ENSP00000303221
EYA1
-1
-
-
-
3'_UTR
NA
-
-
lod=607:654
-
-
-
het
2
2
8
72109749
C
T
ENST00000340726
ENSG00000104313
72109668
72274467
ENSP00000342626
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
NA
-
-
lod=607:654
-
-
-
het
2
3
8
72109749
C
T
ENST00000388740
ENSG00000104313
72109668
72274467
ENSP00000373392
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
NA
-
-
lod=607:654
-
-
-
het
2
4
8
72109749
C
T
ENST00000388742
ENSG00000104313
72109668
72274467
ENSP00000373394
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
NA
-
-
lod=607:654
-
-
-
het
2
5
8
72109749
C
T
ENST00000465115
ENSG00000104313
72109668
72274467
ENSP00000428391
EYA1
-1
-
-
-
3'_UTR
NA
-
-
lod=607:654
-
-
-
het
2
6
8
72109903
A
T
ENST00000303824
ENSG00000104313
72109668
72274467
ENSP00000303221
EYA1
-1
-
-
-
3'_UTR
NA
-
-
lod=84:443
-
-
-
het
1
7
8
72109903
A
T
ENST00000340726
ENSG00000104313
72109668
72274467
ENSP00000342626
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
NA
-
-
lod=84:443
-
-
-
het
1
8
8
72109903
A
T
ENST00000388740
ENSG00000104313
72109668
72274467
ENSP00000373392
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
NA
-
-
lod=84:443
-
-
-
het
1
9
8
72109903
A
T
ENST00000388742
ENSG00000104313
72109668
72274467
ENSP00000373394
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
NA
-
-
lod=84:443
-
-
-
het
1
10
8
72109903
A
T
ENST00000465115
ENSG00000104313
72109668
72274467
ENSP00000428391
EYA1
-1
-
-
-
3'_UTR
NA
-
-
lod=84:443
-
-
-
het
1
11
8
72109994
C
T
ENST00000303824
ENSG00000104313
72109668
72274467
ENSP00000303221
EYA1
-1
-
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
het
8
12
8
72109994
C
T
ENST00000303824
ENSG00000104313
72109668
72274467
ENSP00000303221
EYA1
-1
-
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
hom
692
13
8
72109994
C
T
ENST00000340726
ENSG00000104313
72109668
72274467
ENSP00000342626
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
het
8
14
8
72109994
C
T
ENST00000340726
ENSG00000104313
72109668
72274467
ENSP00000342626
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
hom
692
15
8
72109994
C
T
ENST00000388740
ENSG00000104313
72109668
72274467
ENSP00000373392
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
het
8
16
8
72109994
C
T
ENST00000388740
ENSG00000104313
72109668
72274467
ENSP00000373392
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
hom
692
17
8
72109994
C
T
ENST00000388742
ENSG00000104313
72109668
72274467
ENSP00000373394
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
het
8
18
8
72109994
C
T
ENST00000388742
ENSG00000104313
72109668
72274467
ENSP00000373394
EYA1
-1
EYA1_HUMAN
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
hom
692
19
8
72109994
C
T
ENST00000465115
ENSG00000104313
72109668
72274467
ENSP00000428391
EYA1
-1
-
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
het
8
20
8
72109994
C
T
ENST00000465115
ENSG00000104313
72109668
72274467
ENSP00000428391
EYA1
-1
-
-
-
3'_UTR
rs9298163
0.96597
-
-
-
-
-
hom
692
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