MSeqDR Master Exome Data Set M1: 140 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
94929091
C
A
ENST00000297598
ENSG00000164951
94870035
94938294
ENSP00000297598
PDP1
1
PDP1_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
6
2
8
94929091
C
A
ENST00000297598
ENSG00000164951
94870035
94938294
ENSP00000297598
PDP1
1
PDP1_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
3
8
94929091
C
A
ENST00000520614
ENSG00000164951
94870035
94938294
ENSP00000430931
PDP1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
6
4
8
94929091
C
A
ENST00000520614
ENSG00000164951
94870035
94938294
ENSP00000430931
PDP1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
5
8
94929333
G
T
ENST00000396200
ENSG00000164951
94870035
94938294
ENSP00000379503
PDP1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
6
8
94929333
G
T
ENST00000518107
ENSG00000164951
94870035
94938294
ENSP00000430366
PDP1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
7
8
94929333
G
T
ENST00000518573
ENSG00000164951
94870035
94938294
ENSP00000428433
PDP1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
8
8
94929414
G
T
ENST00000396200
ENSG00000164951
94870035
94938294
ENSP00000379503
PDP1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
9
8
94929414
G
T
ENST00000518107
ENSG00000164951
94870035
94938294
ENSP00000430366
PDP1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
10
8
94929414
G
T
ENST00000518573
ENSG00000164951
94870035
94938294
ENSP00000428433
PDP1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
11
8
94930026
C
T
ENST00000517764
ENSG00000164951
94870035
94938294
ENSP00000430380
PDP1
1
PDP1_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
12
8
94930058
G
T
ENST00000517764
ENSG00000164951
94870035
94938294
ENSP00000430380
PDP1
1
PDP1_HUMAN
-
-
5'_UTR
NA
-
-
lod=709:671
-
-
-
het
2
13
8
94934501
G
T
ENST00000297598
ENSG00000164951
94870035
94938294
ENSP00000297598
PDP1
1
PDP1_HUMAN
c.214G>T
p.A72S
non-syn
NA
-
-
lod=42:369
TOLERATED
B
-
het
2
14
8
94934501
G
T
ENST00000396200
ENSG00000164951
94870035
94938294
ENSP00000379503
PDP1
1
-
c.289G>T
p.A97S
non-syn
NA
-
-
lod=42:369
TOLERATED
B
-
het
2
15
8
94934501
G
T
ENST00000517764
ENSG00000164951
94870035
94938294
ENSP00000430380
PDP1
1
PDP1_HUMAN
c.214G>T
p.A72S
non-syn
NA
-
-
lod=42:369
TOLERATED
B
-
het
2
16
8
94934501
G
T
ENST00000518107
ENSG00000164951
94870035
94938294
ENSP00000430366
PDP1
1
-
c.214G>T
p.A72S
non-syn
NA
-
-
lod=42:369
TOLERATED
B
-
het
2
17
8
94934501
G
T
ENST00000518573
ENSG00000164951
94870035
94938294
ENSP00000428433
PDP1
1
-
c.214G>T
p.A72S
non-syn
NA
-
-
lod=42:369
TOLERATED
B
-
het
2
18
8
94934501
G
T
ENST00000518827
ENSG00000164951
94870035
94938294
ENSP00000430655
PDP1
1
-
c.214G>T
p.A72S
non-syn
NA
-
-
lod=42:369
TOLERATED
B
-
het
2
19
8
94934501
G
T
ENST00000520614
ENSG00000164951
94870035
94938294
ENSP00000430931
PDP1
1
-
c.214G>T
p.A72S
non-syn
NA
-
-
lod=42:369
TOLERATED
B
-
het
2
20
8
94934501
G
T
ENST00000520728
ENSG00000164951
94870035
94938294
ENSP00000428317
PDP1
1
PDP1_HUMAN
c.214G>T
p.A72S
non-syn
NA
-
-
lod=42:369
TOLERATED
B
-
het
2
** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.
As MSeqDR registered user , your accessible protected data set after login: