MSeqDR Master Exome Data Set M1: 228 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
11
66615739
G
A
ENST00000529047
ENSG00000173599
66615704
66725847
ENSP00000435905
PC
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
2
11
66615900
C
T
ENST00000529047
ENSG00000173599
66615704
66725847
ENSP00000435905
PC
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
3
11
66615900
C
T
ENST00000529047
ENSG00000173599
66615704
66725847
ENSP00000435905
PC
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
1
4
11
66615943
C
T
ENST00000529047
ENSG00000173599
66615704
66725847
ENSP00000435905
PC
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
5
11
66616071
A
T
ENST00000393955
ENSG00000173599
66615704
66725847
ENSP00000377527
PC
-1
PYC_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
6
11
66616071
A
T
ENST00000393958
ENSG00000173599
66615704
66725847
ENSP00000377530
PC
-1
PYC_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
7
11
66616071
A
T
ENST00000393960
ENSG00000173599
66615704
66725847
ENSP00000377532
PC
-1
PYC_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
8
11
66616071
A
T
ENST00000528224
ENSG00000173599
66615704
66725847
-
PC
-1
-
c.966T>A
p.Y322*
non-syn
NA
-
-
-
-
-
-
het
1
9
11
66616071
A
T
ENST00000529047
ENSG00000173599
66615704
66725847
ENSP00000435905
PC
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
10
11
66616264
C
A
ENST00000393955
ENSG00000173599
66615704
66725847
ENSP00000377527
PC
-1
PYC_HUMAN
-
-
3'_UTR
rs45505701
0.0243
-
-
-
-
-
het
25
11
11
66616264
C
A
ENST00000393955
ENSG00000173599
66615704
66725847
ENSP00000377527
PC
-1
PYC_HUMAN
-
-
3'_UTR
rs45505701
0.0243
-
-
-
-
-
hom
1
12
11
66616264
C
A
ENST00000393958
ENSG00000173599
66615704
66725847
ENSP00000377530
PC
-1
PYC_HUMAN
-
-
3'_UTR
rs45505701
0.0243
-
-
-
-
-
het
25
13
11
66616264
C
A
ENST00000393958
ENSG00000173599
66615704
66725847
ENSP00000377530
PC
-1
PYC_HUMAN
-
-
3'_UTR
rs45505701
0.0243
-
-
-
-
-
hom
1
14
11
66616264
C
A
ENST00000393960
ENSG00000173599
66615704
66725847
ENSP00000377532
PC
-1
PYC_HUMAN
-
-
3'_UTR
rs45505701
0.0243
-
-
-
-
-
het
25
15
11
66616264
C
A
ENST00000393960
ENSG00000173599
66615704
66725847
ENSP00000377532
PC
-1
PYC_HUMAN
-
-
3'_UTR
rs45505701
0.0243
-
-
-
-
-
hom
1
16
11
66616264
C
A
ENST00000528224
ENSG00000173599
66615704
66725847
-
PC
-1
-
c.773G>T
p.R258L
non-syn
rs45505701
0.0243
-
-
-
-
-
het
25
17
11
66616264
C
A
ENST00000528224
ENSG00000173599
66615704
66725847
-
PC
-1
-
c.773G>T
p.R258L
non-syn
rs45505701
0.0243
-
-
-
-
-
hom
1
18
11
66616264
C
A
ENST00000529047
ENSG00000173599
66615704
66725847
ENSP00000435905
PC
-1
-
-
-
3'_UTR
rs45505701
0.0243
-
-
-
-
-
het
25
19
11
66616264
C
A
ENST00000529047
ENSG00000173599
66615704
66725847
ENSP00000435905
PC
-1
-
-
-
3'_UTR
rs45505701
0.0243
-
-
-
-
-
hom
1
20
11
66616281
C
T
ENST00000393955
ENSG00000173599
66615704
66725847
ENSP00000377527
PC
-1
PYC_HUMAN
-
-
3'_UTR
rs186152567
0.0059
-
-
-
-
-
het
5
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