MSeqDR Master Exome Data Set M1: 135 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
84650707
A
G
ENST00000393868
ENSG00000163541
84650647
84687169
ENSP00000377446
SUCLG1
-1
SUCA_HUMAN
-
-
3'_UTR
rs2832
0.92857
-
-
-
-
-
het
122
2
2
84650707
A
G
ENST00000393868
ENSG00000163541
84650647
84687169
ENSP00000377446
SUCLG1
-1
SUCA_HUMAN
-
-
3'_UTR
rs2832
0.92857
-
-
-
-
-
hom
689
3
2
84650707
A
G
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1712T>C
p.M571T
non-syn
rs2832
0.92857
-
-
-
-
-
het
122
4
2
84650707
A
G
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1712T>C
p.M571T
non-syn
rs2832
0.92857
-
-
-
-
-
hom
689
5
2
84650707
A
G
ENST00000491123
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1050T>C
p.D350D
syn
rs2832
0.92857
-
-
-
-
-
het
122
6
2
84650707
A
G
ENST00000491123
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1050T>C
p.D350D
syn
rs2832
0.92857
-
-
-
-
-
hom
689
7
2
84650815
C
G
ENST00000393868
ENSG00000163541
84650647
84687169
ENSP00000377446
SUCLG1
-1
SUCA_HUMAN
-
-
3'_UTR
rs80166442
0.0309
G=0/C=3182;G=45/C=1339;G=45/C=4521
-
-
-
-
het
2
8
2
84650815
C
G
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1604G>C
p.S535T
non-syn
rs80166442
0.0309
G=0/C=3182;G=45/C=1339;G=45/C=4521
-
-
-
-
het
2
9
2
84650815
C
G
ENST00000491123
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.942G>C
p.Q314H
non-syn
rs80166442
0.0309
G=0/C=3182;G=45/C=1339;G=45/C=4521
-
-
-
-
het
2
10
2
84650856
A
-T
ENST00000393868
ENSG00000163541
84650647
84687169
ENSP00000377446
SUCLG1
-1
SUCA_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
11
2
84650856
A
-T
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1562_1562del
p.N521NA
non-syn
NA
-
-
-
-
-
-
het
1
12
2
84650856
A
-T
ENST00000491123
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.900_900del
p.K300NA
non-syn
NA
-
-
-
-
-
-
het
1
13
2
84652653
G
A
ENST00000393868
ENSG00000163541
84650647
84687169
ENSP00000377446
SUCLG1
-1
SUCA_HUMAN
c.900C>T
p.A300A
syn
rs113840224
0.0063
A=24/G=8576;A=4/G=4402;A=28/G=12978
lod=23:304
-
-
-
het
1
14
2
84652653
G
A
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1408C>T
p.R470W
non-syn
rs113840224
0.0063
A=24/G=8576;A=4/G=4402;A=28/G=12978
lod=23:304
-
-
-
het
1
15
2
84652653
G
A
ENST00000487809
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.647C>T
p.P216L
non-syn
rs113840224
0.0063
A=24/G=8576;A=4/G=4402;A=28/G=12978
lod=23:304
-
-
-
het
1
16
2
84652653
G
A
ENST00000491123
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.746C>T
p.P249L
non-syn
rs113840224
0.0063
A=24/G=8576;A=4/G=4402;A=28/G=12978
lod=23:304
-
-
-
het
1
17
2
84652828
G
C
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1233C>G
p.P411P
syn
rs145405749
0.0028
-
-
-
-
-
het
3
18
2
84652839
A
G
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1222T>C
p.W408R
non-syn
NA
-
-
-
-
-
-
het
1
19
2
84652864
C
T
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1197G>A
p.L399L
syn
rs3752782
0.0972
-
-
-
-
-
hom
4
20
2
84652864
C
T
ENST00000484365
ENSG00000163541
84650647
84687169
-
SUCLG1
-1
-
c.1197G>A
p.L399L
syn
rs3752782
0.0972
-
-
-
-
-
het
46
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