Variant Results

or

Results for "TSGA10"

Variant Events: 36

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

TSGA10

AU3517302

chr2:
99663130-99663130

A

G

intronic

De novo

-

Yuen2017 G

TSGA10

AU2320301

chr2:
99632245-99632245

G

T

intronic

De novo

-

Trost2022 G

TSGA10

AU2320301

chr2:
99679837-99679837

A

C

intronic

De novo

-

Trost2022 G

TSGA10

4-0102-003

chr2:
99620581-99620581

C

A

intronic

De novo

-

Trost2022 G

TSGA10

SP0067106

chr2:
99733962-99733962

T

A

intronic

De novo

-

Fu2022 E

TSGA10

2-0244-004

chr2:
99730146-99730146

T

C

intronic

De novo

-

Trost2022 G

TSGA10

SP0082632

chr2:
99634698-99634698

T

C

exonic

De novo

synonymous SNV

NM_182911
NM_025244

c.A2037G
c.A2037G

p.R679R
p.R679R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TSGA10

2-0244-003

chr2:
99730153-99730153

T

C

intronic

De novo

-

Trost2022 G

TSGA10

2-0244-004

chr2:
99730135-99730135

G

A

intronic

De novo

-

Trost2022 G

TSGA10

2-1375-003

chr2:
99749363-99749363

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TSGA10

2-0244-003

chr2:
99730146-99730146

T

C

intronic

De novo

-

Trost2022 G

TSGA10

5-1004-003A

chr2:
99710545-99710545

C

T

intronic

De novo

-

Trost2022 G

TSGA10

2-0244-003

chr2:
99730135-99730135

G

A

intronic

De novo

-

Trost2022 G

TSGA10

MSSNG00254-003

chr2:
99702098-99702098

G

A

intronic

De novo

-

Trost2022 G

TSGA10

2-1540-003

chr2:
99705492-99705492

G

A

intronic

De novo

-

Trost2022 G

TSGA10

AU3997302

chr2:
99659190-99659190

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSGA10

1-0373-003

chr2:
99730164-99730165

AT

GC

intronic

De novo

-

Trost2022 G

TSGA10

2-0244-004

chr2:
99730164-99730165

AT

GC

intronic

De novo

-

Trost2022 G

TSGA10

2-0244-004

chr2:
99730158-99730158

A

G

intronic

De novo

-

Trost2022 G

TSGA10

2-0244-003

chr2:
99730164-99730165

AT

GC

intronic

De novo

-

Trost2022 G

TSGA10

2-0244-003

chr2:
99730158-99730158

A

G

intronic

De novo

-

Trost2022 G

TSGA10

1-0373-003

chr2:
99730158-99730158

A

G

intronic

De novo

-

Trost2022 G

TSGA10

1-0373-003

chr2:
99730153-99730153

T

C

intronic

De novo

-

Trost2022 G

TSGA10

2-0244-004

chr2:
99730153-99730153

T

C

intronic

De novo

-

Trost2022 G

TSGA10

mAGRE4918

chr2:
99689538-99689538

T

C

splicing

Maternal

splicing

17.6

-

Cirnigliaro2023 G

TSGA10

MSSNG00242-003

chr2:
99749055-99749055

C

T

intronic

De novo

-

Trost2022 G

TSGA10

3-0740-000A

chr2:
99768391-99768391

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G

TSGA10

2-1433-003

chr2:
99730170-99730170

A

G

intronic

De novo

-

Trost2022 G

TSGA10

2-1694-003

chr2:
99731425-99731425

G

GTGA

intronic

De novo

-

Trost2022 G

TSGA10

1-0373-003

chr2:
99730170-99730170

A

G

intronic

De novo

-

Trost2022 G

TSGA10

2-0244-004

chr2:
99730170-99730170

A

G

intronic

De novo

-

Trost2022 G

TSGA10

2-1433-003

chr2:
99730164-99730165

AT

GC

intronic

De novo

-

Trost2022 G

TSGA10

AU4152303

chr2:
99688814-99688814

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSGA10

2-0244-003

chr2:
99730170-99730170

A

G

intronic

De novo

-

Trost2022 G

TSGA10

1-0387-003

chr2:
99613346-99613346

T

C

downstream

De novo

-

Yuen2016 G
Yuen2017 G

TSGA10

DEASD_0231_001

chr2:
99681512-99681512

G

A

exonic

Mosaic

nonsynonymous SNV

NM_182911
NM_025244

c.C1294T
c.C1294T

p.R432C
p.R432C

23.3

8.241E-6

Lim2017 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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