MSeqDR Master Exome Data Set M1: 294 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
3
123001214
T
+ATC
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
NA
-
-
lod=346:594
-
-
-
het
1
2
3
123001267
C
T
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
NA
-
-
lod=221:546
-
-
-
het
1
3
3
123001316
G
A
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
4
3
123001346
C
T
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs80312230
0.0233
-
-
-
-
-
het
1
5
3
123001377
G
A
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs113236387
-
-
-
-
-
-
het
7
6
3
123001379
A
G
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs13322080
0.0638
-
-
-
-
-
het
12
7
3
123001379
A
G
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs13322080
0.0638
-
-
-
-
-
hom
1
8
3
123001463
A
G
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs76135430
0.0164
-
-
-
-
-
het
2
9
3
123001494
G
A
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs6784930
0.20352
-
-
-
-
-
het
194
10
3
123001494
G
A
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs6784930
0.20352
-
-
-
-
-
hom
35
11
3
123001496
C
-G
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
12
3
123001601
T
G
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
3
123001602
C
T
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs139590302
0.00385
-
-
-
-
-
het
5
14
3
123001670
G
C
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
15
3
123001731
T
+GAA
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs149655052
-
-
-
-
-
-
het
5
16
3
123002236
T
C
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs7644737
0.1231
-
-
-
-
-
het
17
17
3
123002236
T
C
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs7644737
0.1231
-
-
-
-
-
hom
1
18
3
123002327
A
G
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs9858285
0.0763
-
-
-
-
-
hom
1
19
3
123002327
A
G
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs9858285
0.0763
-
-
-
-
-
het
12
20
3
123002337
G
C
ENST00000462833
ENSG00000173175
123001143
123168605
ENSP00000419361
ADCY5
-1
ADCY5_HUMAN
-
-
3'_UTR
rs9820928
0.0694
-
-
-
-
-
het
12
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