MSeqDR Master Exome Data Set M1: 776 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
10
123237868
A
-TTTAT
ENST00000357555
ENSG00000066468
123237848
123357972
ENSP00000350166
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
NA
-
-
lod=575:648
-
-
-
het
3
2
10
123237868
A
-TTTAT
ENST00000358487
ENSG00000066468
123237848
123357972
ENSP00000351276
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
NA
-
-
lod=575:648
-
-
-
het
3
3
10
123237868
A
-TTTAT
ENST00000369061
ENSG00000066468
123237848
123357972
ENSP00000358057
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
NA
-
-
lod=575:648
-
-
-
het
3
4
10
123237941
T
C
ENST00000357555
ENSG00000066468
123237848
123357972
ENSP00000350166
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
NA
-
-
lod=575:648
-
-
-
het
2
5
10
123237941
T
C
ENST00000358487
ENSG00000066468
123237848
123357972
ENSP00000351276
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
NA
-
-
lod=575:648
-
-
-
het
2
6
10
123237941
T
C
ENST00000369061
ENSG00000066468
123237848
123357972
ENSP00000358057
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
NA
-
-
lod=575:648
-
-
-
het
2
7
10
123237941
T
C
ENST00000478859
ENSG00000066468
123237848
123357972
ENSP00000474011
FGFR2
-1
-
-
-
3'_UTR
NA
-
-
lod=575:648
-
-
-
het
2
8
10
123238052
T
C
ENST00000357555
ENSG00000066468
123237848
123357972
ENSP00000350166
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs3135830
0.01404
-
lod=16:265
-
-
-
het
19
9
10
123238052
T
C
ENST00000357555
ENSG00000066468
123237848
123357972
ENSP00000350166
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs3135830
0.01404
-
lod=16:265
-
-
-
hom
1
10
10
123238052
T
C
ENST00000358487
ENSG00000066468
123237848
123357972
ENSP00000351276
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs3135830
0.01404
-
lod=16:265
-
-
-
het
19
11
10
123238052
T
C
ENST00000358487
ENSG00000066468
123237848
123357972
ENSP00000351276
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs3135830
0.01404
-
lod=16:265
-
-
-
hom
1
12
10
123238052
T
C
ENST00000369061
ENSG00000066468
123237848
123357972
ENSP00000358057
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs3135830
0.01404
-
lod=16:265
-
-
-
het
19
13
10
123238052
T
C
ENST00000369061
ENSG00000066468
123237848
123357972
ENSP00000358057
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs3135830
0.01404
-
lod=16:265
-
-
-
hom
1
14
10
123238052
T
C
ENST00000478859
ENSG00000066468
123237848
123357972
ENSP00000474011
FGFR2
-1
-
-
-
3'_UTR
rs3135830
0.01404
-
lod=16:265
-
-
-
het
19
15
10
123238052
T
C
ENST00000478859
ENSG00000066468
123237848
123357972
ENSP00000474011
FGFR2
-1
-
-
-
3'_UTR
rs3135830
0.01404
-
lod=16:265
-
-
-
hom
1
16
10
123238070
G
A
ENST00000357555
ENSG00000066468
123237848
123357972
ENSP00000350166
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs71640261
0.00184
-
-
-
-
-
het
4
17
10
123238070
G
A
ENST00000358487
ENSG00000066468
123237848
123357972
ENSP00000351276
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs71640261
0.00184
-
-
-
-
-
het
4
18
10
123238070
G
A
ENST00000369061
ENSG00000066468
123237848
123357972
ENSP00000358057
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
rs71640261
0.00184
-
-
-
-
-
het
4
19
10
123238070
G
A
ENST00000478859
ENSG00000066468
123237848
123357972
ENSP00000474011
FGFR2
-1
-
-
-
3'_UTR
rs71640261
0.00184
-
-
-
-
-
het
4
20
10
123238354
A
G
ENST00000357555
ENSG00000066468
123237848
123357972
ENSP00000350166
FGFR2
-1
FGFR2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
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