Variant Results

or

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

2-0305-003

chr8:
10306586-10306586

G

GAA

intergenic

De novo

-

Yuen2017 G

MSRA

1-0009-004

chr8:
9975727-9975727

A

C

intronic

De novo

-

Yuen2017 G

MSRA

1-0092-004

chr8:
10288307-10288307

G

A

intergenic

De novo

-

Yuen2017 G

MSRA

1-0092-004

chr8:
10249601-10249601

G

C

intronic

De novo

-

Yuen2017 G

MSRA

2-1223-003

chr8:
10298361-10298361

C

T

intergenic

De novo

-

Yuen2017 G

MSRA

1-0092-004

chr8:
10217631-10217631

C

G

intronic

De novo

-

Yuen2017 G

MSRA

AU4336301

chr8:
9807510-9807510

C

G

intergenic

De novo

-

Yuen2017 G

MSRA

7-0183-003

chr8:
9915294-9915294

G

C

intronic

De novo

-

Yuen2017 G

MSRA

2-1369-003

chr8:
9800700-9800700

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSRA

AU4283301

chr8:
9884148-9884148

T

C

intergenic

De novo

-

Yuen2017 G

MSRA

AU046706

chr8:
10087978-10087978

C

A

intronic

De novo

-

Yuen2017 G

MSRA

AU2129301

chr8:
10176230-10176230

G

C

intronic

De novo

-

Yuen2017 G

MSRA

AU4033303

chr8:
10325717-10325717

A

T

intergenic

De novo

-

Yuen2017 G

MSRA

2-1297-003

chr8:
10217284-10217284

G

C

intronic

De novo

-

Yuen2017 G

MSRA

AU028305

chr8:
10060126-10060126

G

T

intronic

De novo

-

Yuen2017 G

MSRA

AU2950301

chr8:
9891324-9891324

G

C

intergenic

De novo

-

Yuen2017 G

MSRA

14637.p1

chr8:
9907271-9907271

C

G

intergenic

De novo

-

Turner2016 G

MSRA

2-1437-003

chr8:
10160173-10160173

G

A

intronic

De novo

-

Yuen2017 G

MSRA

1-0898-003

chr8:
9777073-9777073

G

C

intergenic

De novo

-

Yuen2017 G

MSRA

AU2950301

chr8:
9895267-9895267

G

C

intergenic

De novo

-

Yuen2017 G

MSRA

AU2950301

chr8:
9897612-9897612

T

C

intergenic

De novo

-

Yuen2017 G

MSRA

5-0106-003

chr8:
10040393-10040393

A

G

intronic

De novo

-

Yuen2017 G

MSRA

AU2950301

chr8:
9901319-9901319

G

C

intergenic

De novo

-

Yuen2017 G

MSRA

2-1337-003

chr8:
9992201-9992201

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MSRA

2-1337-003

chr8:
9992665-9992665

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MSRA

1-0024-003

chr8:
10117616-10117616

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MSRA

AU2863303

chr8:
9991540-9991540

C

T

intronic

De novo

-

Yuen2017 G

MSRA

1-0173-004

chr8:
9891820-9891820

T

C

intergenic

De novo

-

Yuen2017 G

MSRA

AU026604

chr8:
9974114-9974114

C

T

intronic

De novo

-

Yuen2017 G

MSRA

2-1509-003

chr8:
9985723-9985723

A

G

intronic

De novo

-

Yuen2017 G

MSRA

A28

chr8:
10098493-10098493

C

T

intronic

De novo

-

Wu2018 G

MSRA

2-1089-003

chr8:
10323227-10323227

C

T

intergenic

De novo

-

Yuen2017 G

MSRA

A22

chr8:
9992073-9992073

G

A

intronic

De novo

-

Wu2018 G

MSRA

AU3874303

chr8:
10022499-10022499

C

G

intronic

De novo

-

Yuen2017 G

MSRA

2-0045-003

chr8:
10297973-10297973

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MSRA

1-0558-003

chr8:
10167835-10167835

A

G

intronic

De novo

-

Yuen2017 G

MSRA

A19

chr8:
9930724-9930724

C

A

intronic

De novo

-

Wu2018 G

MSRA

A19

chr8:
10270665-10270665

G

C

intronic

De novo

-

Wu2018 G

MSRA

2-1246-003

chr8:
10222234-10222234

C

G

intronic

De novo

-

Yuen2017 G

MSRA

2-0223-003

chr8:
10260595-10260595

G

A

intronic

De novo

-

Yuen2017 G

MSRA

2-1246-003

chr8:
10220775-10220775

C

G

intronic

De novo

-

Yuen2017 G

MSRA

AU4234303

chr8:
9808334-9808334

G

A

intergenic

De novo

-

Yuen2017 G

MSRA

1-0555-003

chr8:
10118540-10118540

T

C

intronic

De novo

-

Yuen2017 G

MSRA

DEASD_1034_001

chr8:
10158996-10158996

A

T

intronic

De novo

-

Satterstrom2020 E

MSRA

AU069603

chr8:
10063710-10063710

C

A

intronic

De novo

-

Yuen2017 G

MSRA

2-1579-003

chr8:
9826678-9826678

A

G

intergenic

De novo

-

Yuen2017 G

MSRA

1-0458-005

chr8:
10275918-10275918

G

T

intronic

De novo

-

Yuen2017 G

MSRA

1-0148-005

chr8:
10254512-10254512

C

G

intronic

De novo

-

Yuen2017 G

MSRA

1-0321-004

chr8:
9832579-9832580

GC

G

intergenic

De novo

-

Yuen2017 G

MSRA

NDAR_INVWL738LDP_wes1

chr8:
10285789-10285789

C

T

exonic

De novo

synonymous SNV

NM_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-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MSRA

2-1290-004

chr8:
9891959-9891959

G

GCA

intergenic

De novo

-

Yuen2017 G

MSRA

2-1194-003

chr8:
10212390-10212390

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MSRA

AU4007301

chr8:
10235963-10235963

C

T

intronic

De novo

-

Yuen2017 G

MSRA

5-0065-003

chr8:
10046160-10046160

T

TGCTGAAAATGGG

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

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 notes	View
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