Variant Results

or

Results for "FOCAD"

Variant Events: 41

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

FOCAD

MSSNG00256-005

chr9:
20867162-20867162

T

C

intronic

De novo

-

Trost2022 G

FOCAD

2-1127-003

chr9:
20742221-20742221

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FOCAD

2-1243-003

chr9:
20879367-20879367

T

A

intronic

De novo

-

Trost2022 G

FOCAD

2-1356-003

chr9:
20799042-20799042

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FOCAD

1-0006-003

chr9:
20801082-20801082

T

G

intronic

De novo

-

Trost2022 G

FOCAD

5-5007-003

chr9:
20823771-20823771

T

G

intronic

De novo

-

Trost2022 G

FOCAD

SP0140738

chr9:
20715414-20715414

T

G

intronic

De novo

-

Trost2022 G

FOCAD

1-0125-003

chr9:
20815126-20815145

TTTTTTTTTTGTTTTTTTTT

TTTTTTTTTT

intronic

De novo

-

Yuen2017 G

FOCAD

1-0006-003

chr9:
20801079-20801079

A

G

intronic

De novo

-

Trost2022 G

FOCAD

2-1127-003

chr9:
20971918-20971918

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FOCAD

MSSNG00255-003

chr9:
20697057-20697057

T

C

intronic

De novo

-

Trost2022 G

FOCAD

5-0011-003

chr9:
20704669-20704669

C

T

intronic

De novo

-

Trost2022 G

FOCAD

MSSNG00334-004

chr9:
20992884-20992884

C

T

intronic

De novo

-

Trost2022 G

FOCAD

1-0141-003

chr9:
20936925-20936927

CAT

TAC

intronic

De novo

-

Trost2022 G

FOCAD

3-0005-000

chr9:
20986552-20986552

A

G

intronic

De novo

-

Trost2022 G

FOCAD

1-1058-004

chr9:
20920662-20920662

G

A

intronic

De novo

-

Trost2022 G

FOCAD

3-0236-000

chr9:
20925616-20925616

A

G

intronic

De novo

-

Trost2022 G

FOCAD

1-0552-003

chr9:
20758610-20758610

C

T

intronic

De novo

-

Yuen2017 G

FOCAD

MSSNG00184-003

chr9:
20898760-20898760

A

G

intronic

De novo

-

Trost2022 G

FOCAD

AU2303301

chr9:
20899006-20899006

G

C

intronic

De novo

-

Trost2022 G

FOCAD

SP0139934

chr9:
20765138-20765138

A

C

intronic

De novo

-

Fu2022 E

FOCAD

1-0186-005

chr9:
20936930-20936930

A

G

intronic

De novo

-

Yuen2017 G

FOCAD

SP0052733

chr9:
20978421-20978421

T

C

exonic

De novo

nonsynonymous SNV

NM_017794

c.T4345C

p.W1449R

20.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FOCAD

2-1415-004

chr9:
20756853-20756853

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOCAD

1-0978-003

chr9:
20841820-20841820

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOCAD

AU4433301

chr9:
20883796-20883796

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOCAD

1-0507-003

chr9:
20756280-20756280

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FOCAD

7-0326-003

chr9:
20823091-20823091

C

T

exonic

De novo

nonsynonymous SNV

NM_017794

c.C1897T

p.L633F

23.8

8.682E-6

Trost2022 G
Zhou2022 GE

FOCAD

AU4260303

chr9:
20659782-20659782

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOCAD

REACH000229

chr9:
20990299-20990299

G

C

exonic

De novo

nonsynonymous SNV

NM_017794

c.G5182C

p.E1728Q

12.49

-

Trost2022 G
Zhou2022 GE

FOCAD

1-0757-003

chr9:
20909777-20909777

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOCAD

1-0389-003

chr9:
20820997-20820997

T

A

exonic

De novo

nonsynonymous SNV

NM_017794

c.T1720A

p.S574T

8.188

-

Yuen2015 G

FOCAD

2-1167-003

chr9:
20770680-20770680

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FOCAD

1-0186-004

chr9:
20936930-20936930

A

G

intronic

De novo

-

Yuen2017 G

FOCAD

949_15au

chr9:
20770049-20770049

A

T

exonic

De novo

nonsynonymous SNV

NM_017794

c.A718T

p.T240S

15.5

-

Fu2022 E

FOCAD

ASDFI_1144

chr9:
20926307-20926307

C

T

exonic

De novo

nonsynonymous SNV

NM_017794

c.C2969T

p.P990L

17.12

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FOCAD

1-0010-005

chr9:
20989629-20989629

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOCAD

REACH000650

chr9:
20660887-20660891

AAGAG

A

intronic

De novo

-

Trost2022 G

FOCAD

2-1356-003

chr9:
20794136-20794136

A

C

intronic

De novo

-

Yuen2017 G

FOCAD

AU072005

chr9:
20694533-20694533

T

A

UTR5

De novo

-

Trost2022 G
Yuen2017 G

FOCAD

2-1356-003

chr9:
20798634-20798634

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
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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