MSeqDR Master Exome Data Set M1: 245 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
148692200
A
C
ENST00000264169
ENSG00000115947
148687968
148779147
ENSP00000264169
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
2
2
148692200
A
C
ENST00000392857
ENSG00000115947
148687968
148779147
ENSP00000376597
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
3
2
148692200
A
C
ENST00000392858
ENSG00000115947
148687968
148779147
ENSP00000376598
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
4
2
148692200
A
C
ENST00000535373
ENSG00000115947
148687968
148779147
ENSP00000441953
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
5
2
148692200
A
C
ENST00000536575
ENSG00000115947
148687968
148779147
ENSP00000441502
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
6
2
148692200
A
C
ENST00000540442
ENSG00000115947
148687968
148779147
ENSP00000438326
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
7
2
148692233
A
G
ENST00000264169
ENSG00000115947
148687968
148779147
ENSP00000264169
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
rs17225677
0.00363
-
-
-
-
-
het
4
8
2
148692233
A
G
ENST00000392857
ENSG00000115947
148687968
148779147
ENSP00000376597
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
rs17225677
0.00363
-
-
-
-
-
het
4
9
2
148692233
A
G
ENST00000392858
ENSG00000115947
148687968
148779147
ENSP00000376598
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
rs17225677
0.00363
-
-
-
-
-
het
4
10
2
148692233
A
G
ENST00000535373
ENSG00000115947
148687968
148779147
ENSP00000441953
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
rs17225677
0.00363
-
-
-
-
-
het
4
11
2
148692233
A
G
ENST00000536575
ENSG00000115947
148687968
148779147
ENSP00000441502
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
rs17225677
0.00363
-
-
-
-
-
het
4
12
2
148692233
A
G
ENST00000540442
ENSG00000115947
148687968
148779147
ENSP00000438326
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
rs17225677
0.00363
-
-
-
-
-
het
4
13
2
148692601
T
-CTG
ENST00000264169
ENSG00000115947
148687968
148779147
ENSP00000264169
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
14
2
148692601
T
-CTG
ENST00000392857
ENSG00000115947
148687968
148779147
ENSP00000376597
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
15
2
148692601
T
-CTG
ENST00000392858
ENSG00000115947
148687968
148779147
ENSP00000376598
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
16
2
148692601
T
-CTG
ENST00000535373
ENSG00000115947
148687968
148779147
ENSP00000441953
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
17
2
148692601
T
-CTG
ENST00000536575
ENSG00000115947
148687968
148779147
ENSP00000441502
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
18
2
148692601
T
-CTG
ENST00000540442
ENSG00000115947
148687968
148779147
ENSP00000438326
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
19
2
148692776
T
C
ENST00000264169
ENSG00000115947
148687968
148779147
ENSP00000264169
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
rs3768686
0.28741
-
-
-
-
-
het
241
20
2
148692776
T
C
ENST00000264169
ENSG00000115947
148687968
148779147
ENSP00000264169
ORC4
-1
ORC4_HUMAN
-
-
3'_UTR
rs3768686
0.28741
-
-
-
-
-
hom
63
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