MSeqDR Master Exome Data Set M1: 56 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
6
1610932
C
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.252C>T
p.I84I
syn
NA
-
-
lod=3450:840
-
-
-
het
2
2
6
1610985
A
G
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.305A>G
p.N102S
non-syn
NA
-
-
lod=3450:840
DAMAGING
D
-
het
1
3
6
1611085
C
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.405C>T
p.C135C
syn
rs2230096
0.0751
T=4/C=8596;T=454/C=3952;T=458/C=12548
lod=3450:840
-
-
-
het
7
4
6
1611239
G
A
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.559G>A
p.D187N
non-syn
NA
-
-
lod=3450:840
TOLERATED
B
-
het
1
5
6
1611253
C
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.573C>T
p.L191L
syn
NA
-
-
lod=3450:840
-
-
-
het
1
6
6
1611371
G
A
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.691G>A
p.G231S
non-syn
NA
-
-
lod=500:633
TOLERATED
D
-
het
1
7
6
1611407
G
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.727G>T
p.A243S
non-syn
NA
-
-
lod=500:633
TOLERATED
B
-
het
2
8
6
1611569
C
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.889C>T
p.P297S
non-syn
rs79691946
0.0045
-
-
TOLERATED
B
HGMD
het
4
9
6
1611601
C
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.921C>T
p.G307G
syn
NA
-
T=9/C=4661;T=0/C=2032;T=9/C=6693
lod=260:563
-
-
-
het
1
10
6
1611802
G
+GGC
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1122_1123insGGC
p.G375NA
non-syn
NA
-
-
-
-
-
-
het
75
11
6
1611802
G
+GGC
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1122_1123insGGC
p.G375NA
non-syn
NA
-
-
-
-
-
-
hom
1
12
6
1611802
G
-GGC
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1123_1125del
p.G375NA
non-syn
NA
-
-
-
-
-
-
het
4
13
6
1611802
G
-GGCGGC
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1123_1128del
p.G375NA
non-syn
NA
-
-
-
-
-
-
het
1
14
6
1611869
C
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1189C>T
p.L397L
syn
NA
-
-
lod=235:553
-
-
-
het
1
15
6
1612013
A
C
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1333A>C
p.S445R
non-syn
rs75089353
-
-
lod=1334:738
TOLERATED
P
-
het
1
16
6
1612017
A
+CGG
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1337_1338insCGG
p.H446NA
non-syn
NA
-
-
lod=1334:738
-
-
-
het
159
17
6
1612141
C
-GCGGCG
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1462_1467del
p.A488NA
non-syn
NA
-
-
lod=1334:738
-
-
-
het
3
18
6
1612166
G
A
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1486G>A
p.G496S
non-syn
NA
-
-
lod=1334:738
TOLERATED
B
-
het
3
19
6
1612234
G
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1554G>T
p.L518F
non-syn
rs201687238
-
-
lod=1334:738
DAMAGING
P
-
het
11
20
6
1612234
G
T
ENST00000380874
ENSG00000054598
1610681
1614127
ENSP00000370256
FOXC1
1
FOXC1_HUMAN
c.1554G>T
p.L518F
non-syn
rs201687238
-
-
lod=1334:738
DAMAGING
P
-
hom
1
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