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Results for "MSRA"

Variant Events: 54

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
MSRA     2-0305-003chr8:
10306586-10306586
GGAAintergenicDe novo--Yuen2017 G
MSRA     1-0009-004chr8:
9975727-9975727
ACintronicDe novo--Yuen2017 G
MSRA     1-0092-004chr8:
10288307-10288307
GAintergenicDe novo--Yuen2017 G
MSRA     1-0092-004chr8:
10249601-10249601
GCintronicDe novo--Yuen2017 G
MSRA     2-1223-003chr8:
10298361-10298361
CTintergenicDe novo--Yuen2017 G
MSRA     1-0092-004chr8:
10217631-10217631
CGintronicDe novo--Yuen2017 G
MSRA     AU4336301chr8:
9807510-9807510
CGintergenicDe novo--Yuen2017 G
MSRA     7-0183-003chr8:
9915294-9915294
GCintronicDe novo--Yuen2017 G
MSRA     2-1369-003chr8:
9800700-9800700
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
MSRA     AU4283301chr8:
9884148-9884148
TCintergenicDe novo--Yuen2017 G
MSRA     AU046706chr8:
10087978-10087978
CAintronicDe novo--Yuen2017 G
MSRA     AU2129301chr8:
10176230-10176230
GCintronicDe novo--Yuen2017 G
MSRA     AU4033303chr8:
10325717-10325717
ATintergenicDe novo--Yuen2017 G
MSRA     2-1297-003chr8:
10217284-10217284
GCintronicDe novo--Yuen2017 G
MSRA     AU028305chr8:
10060126-10060126
GTintronicDe novo--Yuen2017 G
MSRA     AU2950301chr8:
9891324-9891324
GCintergenicDe novo--Yuen2017 G
MSRA     14637.p1chr8:
9907271-9907271
CGintergenicDe novo--Turner2016 G
MSRA     2-1437-003chr8:
10160173-10160173
GAintronicDe novo--Yuen2017 G
MSRA     1-0898-003chr8:
9777073-9777073
GCintergenicDe novo--Yuen2017 G
MSRA     AU2950301chr8:
9895267-9895267
GCintergenicDe novo--Yuen2017 G
MSRA     AU2950301chr8:
9897612-9897612
TCintergenicDe novo--Yuen2017 G
MSRA     5-0106-003chr8:
10040393-10040393
AGintronicDe novo--Yuen2017 G
MSRA     AU2950301chr8:
9901319-9901319
GCintergenicDe novo--Yuen2017 G
MSRA     2-1337-003chr8:
9992201-9992201
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MSRA     2-1337-003chr8:
9992665-9992665
ACintronicDe novo--Yuen2016 G
Yuen2017 G
MSRA     1-0024-003chr8:
10117616-10117616
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MSRA     AU2863303chr8:
9991540-9991540
CTintronicDe novo--Yuen2017 G
MSRA     1-0173-004chr8:
9891820-9891820
TCintergenicDe novo--Yuen2017 G
MSRA     AU026604chr8:
9974114-9974114
CTintronicDe novo--Yuen2017 G
MSRA     2-1509-003chr8:
9985723-9985723
AGintronicDe novo--Yuen2017 G
MSRA     A28chr8:
10098493-10098493
CTintronicDe novo--Wu2018 G
MSRA     2-1089-003chr8:
10323227-10323227
CTintergenicDe novo--Yuen2017 G
MSRA     A22chr8:
9992073-9992073
GAintronicDe novo--Wu2018 G
MSRA     AU3874303chr8:
10022499-10022499
CGintronicDe novo--Yuen2017 G
MSRA     2-0045-003chr8:
10297973-10297973
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
MSRA     1-0558-003chr8:
10167835-10167835
AGintronicDe novo--Yuen2017 G
MSRA     A19chr8:
9930724-9930724
CAintronicDe novo--Wu2018 G
MSRA     A19chr8:
10270665-10270665
GCintronicDe novo--Wu2018 G
MSRA     2-1246-003chr8:
10222234-10222234
CGintronicDe novo--Yuen2017 G
MSRA     2-0223-003chr8:
10260595-10260595
GAintronicDe novo--Yuen2017 G
MSRA     2-1246-003chr8:
10220775-10220775
CGintronicDe novo--Yuen2017 G
MSRA     AU4234303chr8:
9808334-9808334
GAintergenicDe novo--Yuen2017 G
MSRA     1-0555-003chr8:
10118540-10118540
TCintronicDe novo--Yuen2017 G
MSRA     DEASD_1034_001chr8:
10158996-10158996
ATintronicDe novo--Satterstrom2020 E
MSRA     AU069603chr8:
10063710-10063710
CAintronicDe novo--Yuen2017 G
MSRA     2-1579-003chr8:
9826678-9826678
AGintergenicDe novo--Yuen2017 G
MSRA     1-0458-005chr8:
10275918-10275918
GTintronicDe novo--Yuen2017 G
MSRA     1-0148-005chr8:
10254512-10254512
CGintronicDe novo--Yuen2017 G
MSRA     1-0321-004chr8:
9832579-9832580
GCGintergenicDe novo--Yuen2017 G
MSRA     NDAR_INVWL738LDP_wes1chr8:
10285789-10285789
CTexonicDe novosynonymous SNVNM_001135670
NM_001135671
NM_012331
NM_001199729
c.C555T
c.C546T
c.C675T
c.C477T
p.T185T
p.T182T
p.T225T
p.T159T
-7.422E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MSRA     2-1290-004chr8:
9891959-9891959
GGCAintergenicDe novo--Yuen2017 G
MSRA     2-1194-003chr8:
10212390-10212390
GAintronicDe novo--Yuen2016 G
Yuen2017 G
MSRA     AU4007301chr8:
10235963-10235963
CTintronicDe novo--Yuen2017 G
MSRA     5-0065-003chr8:
10046160-10046160
TTGCTGAAAATGGGintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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