Variant Results

or

Results for "LOC101927967"

Variant Events: 69

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

LOC101927967

1-0756-004

chr2:
78982906-78982906

T

C

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU4186302

chr2:
78150543-78150543

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

AU4215302

chr2:
78262478-78262478

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0590-003

chr2:
79098612-79098616

ATGAT

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0382-004

chr2:
78033037-78033037

T

TC

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0539-003

chr2:
78946427-78946427

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU4237302

chr2:
78465208-78465208

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

11219.p1

chr2:
79164893-79164893

G

T

intergenic

De novo

-

Werling2018 G

LOC101927967

AU2139305

chr2:
78266943-78266943

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0173-004

chr2:
78090595-78090595

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

AU1988301

chr2:
79070174-79070174

C

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU4429301

chr2:
79222864-79222864

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0551-003

chr2:
78221088-78221088

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

AU1687302

chr2:
78257912-78257912

A

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0299-004

chr2:
78036036-78036036

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0497-003

chr2:
78009122-78009122

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

AU2495302

chr2:
78715986-78715986

G

C

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU2495302

chr2:
78717384-78717384

T

G

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0004-003

chr2:
78753268-78753268

T

G

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0547-003

chr2:
78071040-78071040

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0044-003

chr2:
79053491-79053491

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0701-003

chr2:
78235857-78235862

CTATAT

CTAT

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

2-0019-004

chr2:
78641894-78641894

A

G

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU2000305

chr2:
78653575-78653575

A

G

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU3912303

chr2:
78107804-78107804

G

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0289-003

chr2:
79129477-79129477

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0338-005

chr2:
78805474-78805474

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0197-004

chr2:
78899427-78899427

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

2-0063-003

chr2:
78088786-78088786

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

2-0109-003

chr2:
79161501-79161512

GTACTAGTCCAA

G

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU4183301

chr2:
78457363-78457363

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0304-003

chr2:
78286147-78286147

G

A

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101927967

AU2951302

chr2:
79160838-79160838

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

2-1323-003

chr2:
78901758-78901758

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101927967

AU2139303

chr2:
78116145-78116146

GA

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

AU2951303

chr2:
79160838-79160838

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU4284301

chr2:
78671665-78671665

G

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

2-1407-003

chr2:
78821376-78821376

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101927967

AU4308302

chr2:
78139087-78139087

G

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0756-005

chr2:
78036036-78036036

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

7-0194-003

chr2:
77997307-77997307

A

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0292-005

chr2:
78100154-78100154

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0826-004

chr2:
78167325-78167325

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

2-1261-003

chr2:
78935870-78935870

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

2-1169-003

chr2:
78358982-78358982

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

AU3768302

chr2:
78615003-78615003

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU2022302

chr2:
78295105-78295105

C

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0197-003

chr2:
78899427-78899427

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU1687303

chr2:
78257912-78257912

A

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

2-1693-003

chr2:
78209384-78209384

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

1-0065-004

chr2:
78036036-78036036

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

63-343

chr2:
78074545-78074545

A

G

ncRNA_intronic

De novo

-

Michaelson2012 G

LOC101927967

2-1174-006

chr2:
78570875-78570875

T

C

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU3885305

chr2:
79049054-79049054

T

C

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU3885305

chr2:
79101033-79101033

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927967

2-1275-003

chr2:
78142435-78142435

A

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

5-0055-003

chr2:
78364408-78364408

G

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

7-0102-003

chr2:
78827138-78827138

T

C

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU4145301

chr2:
79034703-79034703

C

G

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU3885304

chr2:
78956250-78956250

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0925-003

chr2:
78735510-78735510

T

C

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0591-003

chr2:
78640577-78640582

ATTTTT

ATTT

intergenic

De novo

-

Yuen2017 G

LOC101927967

2-1425-004

chr2:
79241272-79241272

G

C

intergenic

De novo

-

Yuen2017 G

LOC101927967

5-0017-004

chr2:
78655765-78655765

G

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

AU076509

chr2:
79249630-79249630

A

T

intergenic

De novo

-

Yuen2017 G

LOC101927967

2-1300-003

chr2:
78041303-78041303

C

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

3-0482-000

chr2:
78101108-78101109

AC

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101927967

AU056005

chr2:
79069437-79069437

A

G

intergenic

De novo

-

Yuen2017 G

LOC101927967

1-0520-003

chr2:
78744049-78744063

GTATATATATATATA

GTATATATATATA

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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