Variant Results

or

Results for "DEPTOR"

Variant Events: 45

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

DEPTOR

5-1012-004

chr8:
120944379-120944379

G

A

intronic

De novo

-

Trost2022 G

DEPTOR

REACH000504

chr8:
120957457-120957457

C

A

intronic

De novo

-

Trost2022 G

DEPTOR

AU1933302

chr8:
120954635-120954635

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

7-0150-003

chr8:
120930672-120930672

G

C

intronic

De novo

-

Trost2022 G

DEPTOR

SSC12036

chr8:
120886198-120886198

G

C

exonic

De novo

nonsynonymous SNV

NM_001283012
NM_022783

c.G112C
c.G112C

p.E38Q
p.E38Q

16.39

-

Fu2022 E
Lim2017 E
Trost2022 G

DEPTOR

AU059003

chr8:
120933845-120933845

G

T

intronic

De novo

-

Trost2022 G

DEPTOR

mAGRE1259

chr8:
120940681-120940686

ATCATC

A

exonic

Paternal

frameshift deletion

NM_022783

c.165_169del

p.H55fs

-

1.648E-5

Cirnigliaro2023 G

DEPTOR

4-0092-003

chr8:
120889592-120889592

G

A

intronic

De novo

-

Trost2022 G

DEPTOR

5-5119-003

chr8:
120920068-120920068

G

A

intronic

De novo

-

Trost2022 G

DEPTOR

5340

chr8:
120886151-120886151

C

G

exonic

De novo

nonsynonymous SNV

NM_001283012
NM_022783

c.C65G
c.C65G

p.A22G
p.A22G

15.82

1.0E-4

Trost2022 G

DEPTOR

SJD_69.3

chr8:
120981915-120981915

C

T

intronic

De novo

-

Trost2022 G

DEPTOR

MSSNG00013-003

chr8:
120986966-120986966

C

T

intronic

De novo

-

Trost2022 G

DEPTOR

2-0244-003

chr8:
121103823-121103823

G

A

intergenic

De novo

-

Yuen2017 G

DEPTOR

2-1638-003

chr8:
120973588-120973588

A

G

intronic

De novo

-

Trost2022 G

DEPTOR

2-1638-003

chr8:
120973608-120973610

ATT

GTC

intronic

De novo

-

Trost2022 G

DEPTOR

REACH000431

chr8:
120967895-120967895

G

A

intronic

De novo

-

Trost2022 G

DEPTOR

2-1638-003

chr8:
120973580-120973581

TG

CA

intronic

De novo

-

Trost2022 G

DEPTOR

1-0593-003

chr8:
120982259-120982259

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

1-0581-003

chr8:
120960537-120960537

C

T

intronic

De novo

-

Trost2022 G

DEPTOR

5-0134-003

chr8:
120963079-120963079

C

G

intronic

De novo

-

Trost2022 G

DEPTOR

2-1251-003

chr8:
120992906-120992906

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

iHART1259

chr8:
120940681-120940686

ATCATC

A

exonic

Paternal

frameshift deletion

NM_022783

c.165_169del

p.H55fs

-

1.648E-5

Ruzzo2019 G

DEPTOR

AU4067303

chr8:
120985528-120985528

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

7-0478-003

chr8:
121013175-121013175

G

A

intronic

De novo

-

Trost2022 G

DEPTOR

4-0090-003

chr8:
121027728-121027728

G

C

intronic

De novo

-

Trost2022 G

DEPTOR

2-0019-004

chr8:
121053577-121053577

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

3-0174-000

chr8:
120994913-120994913

G

A

intronic

De novo

-

Trost2022 G

DEPTOR

AU3912303

chr8:
121111156-121111156

G

A

intergenic

De novo

-

Yuen2017 G

DEPTOR

MSSNG00358-004

chr8:
121005077-121005077

C

T

intronic

De novo

-

Trost2022 G

DEPTOR

11303.p1

chr8:
120886151-120886151

C

G

exonic

De novo

nonsynonymous SNV

NM_001283012
NM_022783

c.C65G
c.C65G

p.A22G
p.A22G

15.82

1.0E-4

Satterstrom2020 E

DEPTOR

2-1451-004

chr8:
120938356-120938356

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

14459.p1

chr8:
120886198-120886198

G

C

exonic

De novo

nonsynonymous SNV

NM_001283012
NM_022783

c.G112C
c.G112C

p.E38Q
p.E38Q

16.39

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

DEPTOR

AU3861302

chr8:
120919893-120919893

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

SP0056567

chr8:
121061723-121061723

G

C

intronic

De novo

-

Fu2022 E

DEPTOR

SP0011574

chr8:
121015374-121015374

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

DEPTOR

1-0914-003

chr8:
121051535-121051535

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

AU071204

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

AU2458303

chr8:
120982954-120982954

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

SP0046032

chr8:
120942013-120942013

A

AT

intronic

De novo

-

2.495E-5

Fu2022 E
Trost2022 G

DEPTOR

SP0120974

chr8:
121019084-121019084

C

T

exonic

De novo

synonymous SNV

NM_001283012
NM_022783

c.C663T
c.C966T

p.P221P
p.P322P

-

5.774E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DEPTOR

1-0345-004

chr8:
121081916-121081916

A

G

intergenic

De novo

-

Yuen2017 G

DEPTOR

AU2023302

chr8:
121104486-121104486

A

G

intergenic

De novo

-

Yuen2017 G

DEPTOR

AU012804

chr8:
121058178-121058178

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DEPTOR

2-1508-003

chr8:
121105064-121105064

T

C

intergenic

De novo

-

Yuen2017 G

DEPTOR

SP0038667

chr8:
121021148-121021148

A

G

intronic

De novo

-

Fu2022 E

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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