Variant Results

or

Results for "MSI2"

Variant Events: 40

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

MSI2

1-0458-004

chr17:
55807832-55807832

G

A

intergenic

De novo

-

Yuen2017 G

MSI2

SP0058663

chr17:
55710084-55710084

G

A

UTR3

De novo

-

Fu2022 E
Trost2022 G

MSI2

7-0497-003

chr17:
55609423-55609423

A

C

intronic

De novo

-

Trost2022 G

MSI2

AU3806304

chr17:
55636824-55636824

C

T

intronic

De novo

-

Trost2022 G

MSI2

REACH000409

chr17:
55593787-55593787

G

T

intronic

De novo

-

Trost2022 G

MSI2

5-5098-003

chr17:
55597242-55597242

T

C

intronic

De novo

-

Trost2022 G

MSI2

7-0351-004

chr17:
55532663-55532663

C

T

intronic

De novo

-

Trost2022 G

MSI2

1-0751-003

chr17:
55570653-55570653

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

5-5202-003

chr17:
55577279-55577279

A

G

intronic

De novo

-

Trost2022 G

MSI2

REACH000514

chr17:
55531047-55531047

C

G

intronic

De novo

-

Trost2022 G

MSI2

7-0219-003

chr17:
55417000-55417000

C

G

intronic

De novo

-

Yuen2017 G

MSI2

5-5015-003

chr17:
55532192-55532192

A

T

intronic

De novo

-

Trost2022 G

MSI2

3-0702-000

chr17:
55760914-55760914

T

A

intergenic

De novo

-

Trost2022 G

MSI2

7-0129-003

chr17:
55668435-55668437

ATC

A

intronic

De novo

-

Trost2022 G

MSI2

SP0239828

chr17:
55756941-55756941

G

A

UTR3

De novo

-

Trost2022 G

MSI2

14390.p1

chr17:
55419552-55419552

T

C

intronic

De novo

-

Wilfert2021 G

MSI2

5-0512-003

chr17:
55642327-55642327

G

A

intronic

De novo

-

Trost2022 G

MSI2

AU004403

chr17:
55666183-55666183

G

A

intronic

De novo

-

Trost2022 G

MSI2

2-1730-003

chr17:
55471124-55471124

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

5-0133-003

chr17:
55731197-55731197

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

1-0541-004

chr17:
55458988-55458998

CTCATCTTAAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

1-0226-005

chr17:
55510440-55510445

CACCAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

AU3175303

chr17:
55757475-55757475

C

T

downstream

De novo

-

Trost2022 G
Yuen2017 G

MSI2

AU017304

chr17:
55612998-55612998

G

A

intronic

De novo

-

Yuen2017 G

MSI2

74-0075

chr17:
55428701-55428701

G

A

intronic

De novo

-

Michaelson2012 G

MSI2

AU3907301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G

MSI2

AU3811305

chr17:
55783712-55783712

A

G

intergenic

De novo

-

Yuen2017 G

MSI2

AU4072303

chr17:
55391232-55391232

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

AU4219302

chr17:
55676567-55676567

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

2-1359-004

chr17:
55394594-55394594

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

1-0004-003

chr17:
55591418-55591418

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

1-0481-003

chr17:
55780573-55780573

T

A

intergenic

De novo

-

Yuen2017 G

MSI2

2-1820-003

chr17:
55469349-55469349

G

A

intronic

De novo

-

Trost2022 G

MSI2

AU072004

chr17:
55550452-55550452

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

5-1006-003

chr17:
55502461-55502461

G

C

intronic

De novo

-

Trost2022 G

MSI2

7-0408-003

chr17:
55408448-55408448

T

A

intronic

De novo

-

Trost2022 G

MSI2

1-0541-003

chr17:
55458988-55458998

CTCATCTTAAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MSI2

AU007503

chr17:
55428701-55428701

G

A

intronic

De novo

-

Trost2022 G

MSI2

3-0703-000

chr17:
55349693-55349693

C

T

intronic

De novo

-

Trost2022 G

MSI2

2-0503-004

chr17:
55463996-55463996

C

T

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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