Variant Results

or

Results for "LOC101928516"

Variant Events: 42

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

LOC101928516

2-1269-003

chr6:
75297340-75297340

G

A

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101928516

AU2777302

chr6:
75537241-75537241

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928516

AU2792302

chr6:
75780086-75780086

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928516

1-0651-003

chr6:
75042945-75042945

T

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

14015.p1

chr6:
74847867-74847867

C

T

ncRNA_intronic

De novo

-

Turner2016 G

LOC101928516

AU027506

chr6:
74824584-74824584

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

1-0673-003

chr6:
75772604-75772604

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928516

2-0142-004

chr6:
75302031-75302031

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

1-0191-004

chr6:
75626229-75626229

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928516

AU4033304

chr6:
75595441-75595449

GATATTGGT

GATATTGGTATATTGGT

intergenic

De novo

-

Yuen2017 G

LOC101928516

1-0289-003

chr6:
75344056-75344056

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

2-1629-003

chr6:
75369785-75369785

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU4234303

chr6:
75044360-75044360

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

1-0161-004

chr6:
74847340-74847340

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU024607

chr6:
75556214-75556214

A

G

intergenic

De novo

-

Yuen2017 G

LOC101928516

AU4260303

chr6:
75088440-75088440

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

1-0986-003

chr6:
75053611-75053611

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU3874301

chr6:
75436805-75436805

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928516

2-0270-004

chr6:
75335311-75335311

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU4215302

chr6:
74796360-74796360

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU3889305

chr6:
75207045-75207045

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

1-0965-003

chr6:
75014312-75014312

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU046904

chr6:
75610460-75610460

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928516

1-0225-003

chr6:
75340656-75340659

TAAA

TAA

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

2-1343-003

chr6:
75647711-75647712

AG

A

intergenic

De novo

-

Yuen2017 G

LOC101928516

7-0191-003

chr6:
75089060-75089060

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

1-0627-005

chr6:
74808271-74808271

T

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU1542303

chr6:
75582091-75582091

G

C

intergenic

De novo

-

Yuen2017 G

LOC101928516

AU3881301

chr6:
75107170-75107170

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

2-1738-003

chr6:
74908089-74908089

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

5-0050-004

chr6:
75530353-75530353

A

G

intergenic

De novo

-

Yuen2017 G

LOC101928516

AU4487302

chr6:
75523501-75523501

A

T

intergenic

De novo

-

Yuen2017 G

LOC101928516

AU2162302

chr6:
75029190-75029190

A

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU3888302

chr6:
74836432-74836432

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

2-1112-003

chr6:
74792030-74792030

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

1-0104-004

chr6:
74996275-74996275

A

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

2-1581-003

chr6:
75179385-75179385

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

AU006804

chr6:
75475518-75475518

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928516

5-0148-003

chr6:
75134954-75134954

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

5-0109-003

chr6:
75250528-75250528

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928516

13358.p1

chr6:
75384884-75384884

C

T

ncRNA_intronic

De novo

-

Werling2018 G

LOC101928516

2-1526-004

chr6:
75090236-75090236

C

A

ncRNA_intronic

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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