MSeqDR Master Exome Data Set M1: 44 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
14
29236457
C
T
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
-
-
5'_UTR
NA
-
-
lod=239:554
-
-
-
het
1
2
14
29236457
C
T
ENST00000382535
ENSG00000176165
29235050
29238870
ENSP00000371975
FOXG1
1
FOXG1_HUMAN
-
-
5'_UTR
NA
-
-
lod=239:554
-
-
-
het
1
3
14
29236583
A
C
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
c.98A>C
p.H33P
non-syn
NA
-
-
lod=468:626
DAMAGING
NA
-
het
1
4
14
29236583
A
C
ENST00000382535
ENSG00000176165
29235050
29238870
ENSP00000371975
FOXG1
1
FOXG1_HUMAN
c.98A>C
p.H33P
non-syn
NA
-
-
lod=468:626
DAMAGING
NA
-
het
1
5
14
29236655
A
C
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
c.170A>C
p.H57P
non-syn
NA
-
-
lod=66:417
TOLERATED
NA
-
het
1
6
14
29236655
A
C
ENST00000382535
ENSG00000176165
29235050
29238870
ENSP00000371975
FOXG1
1
FOXG1_HUMAN
c.170A>C
p.H57P
non-syn
NA
-
-
lod=66:417
TOLERATED
NA
-
het
1
7
14
29236932
C
T
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
c.447C>T
p.A149A
syn
NA
-
-
lod=6846:913
-
-
-
het
2
8
14
29236932
C
T
ENST00000382535
ENSG00000176165
29235050
29238870
ENSP00000371975
FOXG1
1
FOXG1_HUMAN
c.447C>T
p.A149A
syn
NA
-
-
lod=6846:913
-
-
-
het
2
9
14
29236974
C
T
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
c.489C>T
p.G163G
syn
NA
-
T=7/C=8535;T=1/C=4331;T=8/C=12866
lod=6846:913
-
-
-
het
1
10
14
29236974
C
T
ENST00000382535
ENSG00000176165
29235050
29238870
ENSP00000371975
FOXG1
1
FOXG1_HUMAN
c.489C>T
p.G163G
syn
NA
-
T=7/C=8535;T=1/C=4331;T=8/C=12866
lod=6846:913
-
-
-
het
1
11
14
29237543
A
G
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
c.1058A>G
p.N353S
non-syn
NA
-
-
lod=6846:913
DAMAGING
P
-
het
1
12
14
29237543
A
G
ENST00000382535
ENSG00000176165
29235050
29238870
ENSP00000371975
FOXG1
1
FOXG1_HUMAN
c.1058A>G
p.N353S
non-syn
NA
-
-
lod=6846:913
DAMAGING
P
-
het
1
13
14
29237805
C
G
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
c.1320C>G
p.S440S
syn
NA
-
-
lod=6846:913
-
-
-
het
1
14
14
29237805
C
G
ENST00000382535
ENSG00000176165
29235050
29238870
ENSP00000371975
FOXG1
1
FOXG1_HUMAN
c.1320C>G
p.S440S
syn
NA
-
-
lod=6846:913
-
-
-
het
1
15
14
29237968
C
A
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
-
-
3'_UTR
rs151157846
0.01484
A=135/C=8465;A=18/C=4388;A=153/C=12853
lod=6846:913
-
-
-
het
26
16
14
29237968
C
A
ENST00000382535
ENSG00000176165
29235050
29238870
ENSP00000371975
FOXG1
1
FOXG1_HUMAN
-
-
3'_UTR
rs151157846
0.01484
A=135/C=8465;A=18/C=4388;A=153/C=12853
lod=6846:913
-
-
-
het
26
17
14
29238047
G
+C
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
-
-
3'_UTR
rs11433787
-
-
lod=6846:913
-
-
-
hom
1
18
14
29238047
G
+C
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
-
-
3'_UTR
rs11433787
-
-
lod=6846:913
-
-
-
het
9
19
14
29238047
G
-C
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
-
-
3'_UTR
rs68024132
-
-
lod=6846:913
-
-
-
het
147
20
14
29238047
G
-C
ENST00000313071
ENSG00000176165
29235050
29238870
ENSP00000339004
FOXG1
1
FOXG1_HUMAN
-
-
3'_UTR
rs68024132
-
-
lod=6846:913
-
-
-
hom
4
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