Variant Results

or

Results for "VCP"

Variant Events: 12

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

VCP

2-0295-004

chr9:
35069741-35069742

AC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VCP

AU030504

chr9:
35060803-35060803

C

A

exonic

Unknown

nonsynonymous SNV

NM_007126

c.G1477T

p.V493F

25.5

-

Stessman2017 T

VCP

220-9860-201

chr9:
35061615-35061615

T

G

exonic

De novo

nonsynonymous SNV

NM_007126

c.A1153C

p.T385P

23.7

-

O’Roak2014 T

VCP

13646.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_007126
NM_007126

c.1545_1549del
c.1544_1548del

p.L515fs
p.L515fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Willsey2013 E
Zhou2022 GE

VCP

2-1182-003

chr9:
35056839-35056839

A

G

UTR3

De novo

-

Yuen2016 G
Yuen2017 G

VCP

ASC_11517-1

chr9:
35066820-35066820

G

A

intronic

De novo

-

Fu2022 E

VCP

SP0229436

chr9:
35064174-35064174

G

A

exonic

De novo

nonsynonymous SNV

NM_007126

c.C685T

p.L229F

30.0

-

Trost2022 G

VCP

SSC08216

chr9:
35060455-35060460

TAGAAC

T

exonic

De novo

frameshift deletion

NM_007126

c.1545_1549del

p.L515fs

-

Fu2022 E
Trost2022 G

VCP

SP0242932

chr9:
35067940-35067940

T

C

exonic

De novo

nonsynonymous SNV

NM_007126

c.A250G

p.M84V

14.6

-

Trost2022 G

VCP

SP0071274

chr9:
35071996-35071996

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

VCP

217-14379-4920

chr9:
35060821-35060821

G

A

exonic

Unknown

nonsynonymous SNV

NM_007126

c.C1459T

p.R487C

19.15

1.647E-5

Stessman2017 T

VCP

SP0053549

chr9:
35059828-35059828

T

TA

intronic

De novo

-

Fu2022 E
Trost2022 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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