MSeqDR Master Exome Data Set M1: 9 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
1
115828691
T
G
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.726A>C
p.*242C
non-syn
NA
-
-
lod=24:309
TOLERATED
NA
-
het
6
2
1
115828799
G
A
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.618C>T
p.T206T
syn
NA
-
-
lod=127:487
-
-
-
het
3
3
1
115828972
C
T
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.445G>A
p.A149T
non-syn
rs149823633
-
T=2/C=8598;T=0/C=4406;T=2/C=13004
lod=195:533
DAMAGING
D
-
het
2
4
1
115829133
C
T
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.284G>A
p.R95H
non-syn
rs150136942
-
T=1/C=8599;T=9/C=4397;T=10/C=12996
-
DAMAGING
B
-
het
2
5
1
115829178
C
T
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.239G>A
p.R80Q
non-syn
rs11466111
0.0096
T=126/C=8474;T=27/C=4379;T=153/C=12853
lod=159:511
DAMAGING
D
-
het
20
6
1
115829203
C
T
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.214G>A
p.V72M
non-syn
rs11466110
0.0149
T=1/C=8599;T=80/C=4326;T=81/C=12925
lod=159:511
TOLERATED
P
-
het
1
7
1
115829313
G
A
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.104C>T
p.A35V
non-syn
rs6330
0.43667
A=3890/G=4710;A=911/G=3495;A=4801/G=8205
lod=44:374
DAMAGING
B
Anxiety-related traits, gender-dependent, association with
het
508
8
1
115829313
G
A
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.104C>T
p.A35V
non-syn
rs6330
0.43667
A=3890/G=4710;A=911/G=3495;A=4801/G=8205
lod=44:374
DAMAGING
B
Anxiety-related traits, gender-dependent, association with
hom
155
9
1
115829363
C
T
ENST00000369512
ENSG00000134259
115828539
115880857
ENSP00000358525
NGF
-1
NGF_HUMAN
c.54G>A
p.A18A
syn
rs6325
0.1065
T=6/C=8594;T=525/C=3881;T=531/C=12475
lod=56:399
-
-
-
het
8
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