Variant Results

or

Results for "LOC729159"

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

LOC729159

AU2433303

chr16:
60606085-60606089

AACCA

AA

intergenic

De novo

-

Yuen2017 G

LOC729159

1-0669-003

chr16:
60688509-60688509

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

2-1526-003

chr16:
60994350-60994350

A

G

intergenic

De novo

-

Yuen2017 G

LOC729159

AU4154303

chr16:
60770199-60770199

T

C

intergenic

De novo

-

Yuen2017 G

LOC729159

A15

chr16:
60608687-60608687

G

A

intergenic

De novo

-

Wu2018 G

LOC729159

AU2089301

chr16:
60495492-60495492

A

T

intergenic

De novo

-

Yuen2017 G

LOC729159

AU3918302

chr16:
60628075-60628075

G

A

intergenic

De novo

-

Yuen2017 G

LOC729159

5-0125-003

chr16:
60810903-60810903

T

A

intergenic

De novo

-

Yuen2017 G

LOC729159

2-0198-005

chr16:
60761875-60761875

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

2-1356-003

chr16:
60589357-60589357

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC729159

AU2458303

chr16:
60573836-60573836

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

2-1169-004

chr16:
60768995-60768995

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

1-0079-008

chr16:
60902227-60902227

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

3-0661-000

chr16:
60846657-60846657

G

A

intergenic

De novo

-

Yuen2017 G

LOC729159

AU0636303

chr16:
60459928-60459928

C

A

intergenic

De novo

-

Yuen2017 G

LOC729159

AU4211304

chr16:
60904847-60904847

A

G

intergenic

De novo

-

Yuen2017 G

LOC729159

AU1355301

chr16:
60858284-60858284

A

T

intergenic

De novo

-

Yuen2017 G

LOC729159

1-0051-005

chr16:
61081964-61081964

T

TTG

intergenic

De novo

-

Yuen2017 G

LOC729159

2-1336-003

chr16:
60838958-60838967

GTAACCTCAA

G

intergenic

De novo

-

Yuen2017 G

LOC729159

AU3175303

chr16:
60932505-60932505

C

A

intergenic

De novo

-

Yuen2017 G

LOC729159

1-0261-003

chr16:
60651001-60651001

C

A

intergenic

De novo

-

Yuen2017 G

LOC729159

2-1486-003

chr16:
61015938-61015938

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC729159

2-1486-003

chr16:
60461793-60461793

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC729159

2-1336-004

chr16:
60709415-60709415

A

G

intergenic

De novo

-

Yuen2017 G

LOC729159

AU005213

chr16:
60595051-60595051

G

A

intergenic

De novo

-

Yuen2017 G

LOC729159

AU2139301

chr16:
61029798-61029798

G

A

intergenic

De novo

-

Yuen2017 G

LOC729159

AU2293301

chr16:
61032854-61032854

C

A

intergenic

De novo

-

Yuen2017 G

LOC729159

1-0708-003

chr16:
60525073-60525073

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

2-0045-003

chr16:
60525118-60525118

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

2-0198-004

chr16:
60761875-60761875

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

2-1268-003

chr16:
60824147-60824147

C

T

intergenic

De novo

-

Yuen2016 G

LOC729159

AU066404

chr16:
60462783-60462788

GAGAAG

GAG

intergenic

De novo

-

Yuen2017 G

LOC729159

2-1487-003

chr16:
60587261-60587261

G

A

intergenic

De novo

-

Yuen2017 G

LOC729159

AU2793303

chr16:
60685520-60685520

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

AU3702307

chr16:
60785433-60785433

A

G

intergenic

De novo

-

Yuen2017 G

LOC729159

1-0344-003

chr16:
60567719-60567719

T

C

intergenic

De novo

-

Yuen2017 G

LOC729159

7-0095-004

chr16:
60746792-60746792

C

A

intergenic

De novo

-

Yuen2017 G

LOC729159

5-0110-003

chr16:
60615401-60615401

T

G

intergenic

De novo

-

Yuen2017 G

LOC729159

AU3760301

chr16:
60404989-60404989

C

T

intergenic

De novo

-

Yuen2017 G

LOC729159

11089.p1

chr16:
60715363-60715363

T

C

intergenic

De novo

-

Turner2016 G

LOC729159

2-0129-004

chr16:
61005337-61005337

G

A

intergenic

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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