Variant Results

or

Results for "CTSO"

Variant Events: 37

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

CTSO

1-0252-003

chr4:
157116978-157116978

T

TTATTATTAGTAGTAGTAGTAACA

intergenic

De novo

-

Yuen2017 G

CTSO

2-0307-004

chr4:
157151847-157151847

G

T

intergenic

De novo

-

Yuen2017 G

CTSO

1-0121-003

chr4:
157209119-157209119

C

T

intergenic

De novo

-

Yuen2017 G

CTSO

AU058105

chr4:
157050387-157050387

T

A

intergenic

De novo

-

Yuen2017 G

CTSO

AU3779301

chr4:
157401021-157401021

C

T

intergenic

De novo

-

Yuen2017 G

CTSO

2-1562-004

chr4:
156974655-156974655

G

T

intergenic

De novo

-

Yuen2017 G

CTSO

1-0994-003

chr4:
156923658-156923673

TACACACACACACACA

TACACACACACACA

intergenic

De novo

-

Yuen2017 G

CTSO

2-1416-004

chr4:
156969866-156969866

C

G

intergenic

De novo

-

Yuen2017 G

CTSO

2-0223-004

chr4:
157366175-157366175

T

TCTTTC

intergenic

De novo

-

Yuen2017 G

CTSO

AU047704

chr4:
157053885-157053885

A

G

intergenic

De novo

-

Yuen2017 G

CTSO

AU4231301

chr4:
157226642-157226642

G

A

intergenic

De novo

-

Yuen2017 G

CTSO

1-0882-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

CTSO

2-1339-003

chr4:
157063197-157063197

A

AATAAAC

intergenic

De novo

-

Yuen2017 G

CTSO

7-0188-003

chr4:
157557728-157557731

GGTA

GGTAGTA

intergenic

De novo

-

Yuen2017 G

CTSO

AU4452302

chr4:
157175029-157175029

C

T

intergenic

De novo

-

Yuen2017 G

CTSO

3-0307-000

chr4:
157062676-157062676

G

A

intergenic

De novo

-

Yuen2017 G

CTSO

1-0181-004

chr4:
157191603-157191603

A

G

intergenic

De novo

-

Yuen2017 G

CTSO

1-0059-003

chr4:
157677177-157677181

GCTGA

G

intergenic

De novo

-

Yuen2017 G

CTSO

AU030804

chr4:
157665737-157665737

C

G

intergenic

De novo

-

Yuen2017 G

CTSO

1-0051-005

chr4:
157017082-157017082

T

TTGC

intergenic

De novo

-

Yuen2017 G

CTSO

1-0436-003

chr4:
157288705-157288705

C

T

intergenic

De novo

-

Yuen2017 G

CTSO

5-0064-003

chr4:
156870410-156870410

G

T

intronic

De novo

-

Yuen2017 G

CTSO

2-0057-004

chr4:
157063197-157063197

A

AATAAAC

intergenic

De novo

-

Yuen2017 G

CTSO

AU060803

chr4:
157317902-157317902

T

G

intergenic

De novo

-

Yuen2017 G

CTSO

5-0025-003

chr4:
157445124-157445124

G

C

intergenic

De novo

-

Yuen2017 G

CTSO

AU4069301

chr4:
157352559-157352559

C

T

intergenic

De novo

-

Yuen2017 G

CTSO

SP0074544

chr4:
156849576-156849576

G

A

exonic

De novo

synonymous SNV

NM_001334

c.C843T

p.S281S

-

Fu2022 E

CTSO

1-0433-004

chr4:
156917079-156917079

T

G

intergenic

De novo

-

Yuen2017 G

CTSO

1-0321-004

chr4:
157484109-157484109

T

C

intergenic

De novo

-

Yuen2017 G

CTSO

SP0099909

chr4:
156863418-156863418

G

C

intronic

De novo

-

Fu2022 E

CTSO

AU050604

chr4:
156956990-156956990

A

G

intergenic

De novo

-

Yuen2017 G

CTSO

1-0388-003

chr4:
157019273-157019273

T

C

intergenic

De novo

-

Yuen2017 G

CTSO

1-0445-003

chr4:
157153885-157153885

G

C

intergenic

De novo

-

Yuen2017 G

CTSO

2-1085-004

chr4:
157656833-157656833

G

A

intergenic

De novo

-

Yuen2017 G

CTSO

2-1605-003

chr4:
157590790-157590790

G

A

intergenic

De novo

-

Yuen2017 G

CTSO

2-1105-003

chr4:
157351265-157351265

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CTSO

AU2777302

chr4:
157178270-157178270

G

A

intergenic

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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