Variant Results

or

Results for "LOC101928272"

Variant Events: 49

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

LOC101928272

13143.p1

chr10:
9571531-9571531

G

A

intergenic

De novo

-

Wilfert2021 G

LOC101928272

3-0065-000

chr10:
9444600-9444614

CCTCTCTCTCTCTCT

CCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU4159302

chr10:
9352821-9352821

T

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-1120-003

chr10:
9474856-9474856

A

ATTTTTT

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-1315-003

chr10:
9495950-9495950

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101928272

1-0925-003

chr10:
9578768-9578768

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

1-0402-004

chr10:
9279471-9279471

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928272

2-1089-004

chr10:
9693840-9693840

C

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-1148-004

chr10:
9789284-9789284

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928272

1-0971-003

chr10:
9686361-9686361

A

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU3617302

chr10:
9695080-9695080

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928272

7-0223-003

chr10:
10022708-10022708

A

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

1-0518-003

chr10:
9802856-9802856

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101928272

AU036203

chr10:
9631777-9631777

A

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU066404

chr10:
9660628-9660642

AAACAACAACAACAA

AAACAACAACAA

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU2793301

chr10:
10041590-10041590

G

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU3885305

chr10:
9528573-9528573

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

1-0591-003

chr10:
9472003-9472017

CGTGTGTGTGTGTGT

CGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-0273-003

chr10:
9523047-9523047

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928272

1-0673-003

chr10:
10041250-10041250

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-0135-003

chr10:
9911234-9911234

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU3853302

chr10:
9961670-9961670

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU047704

chr10:
10095337-10095337

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU005214

chr10:
9529314-9529314

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU4197301

chr10:
9403959-9403959

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-0310-004

chr10:
9719782-9719787

AAGTTT

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-1306-004

chr10:
9583210-9583210

C

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

7-0002-003

chr10:
9239080-9239080

C

T

downstream

De novo

-

Yuen2017 G

LOC101928272

AU0540301

chr10:
9810862-9810862

A

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

5-0084-003

chr10:
9827529-9827529

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

7-0167-003

chr10:
9476165-9476165

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU2863303

chr10:
9580772-9580772

A

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

1-0559-003

chr10:
9465160-9465160

T

TTAC

intergenic

De novo

-

Yuen2017 G

LOC101928272

1-0494-003A

chr10:
9818201-9818203

CTT

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-1391-003

chr10:
9738150-9738150

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU1698301

chr10:
9604918-9604918

T

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

14153.p1

chr10:
9507452-9507452

G

A

intergenic

De novo

-

Turner2016 G

LOC101928272

AU2293301

chr10:
9846070-9846070

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU4183301

chr10:
9538972-9538972

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU3649304

chr10:
9403039-9403039

T

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

5-0046-003

chr10:
10048101-10048101

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU4426303

chr10:
9861980-9861980

T

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

7-0055-003

chr10:
9255711-9255711

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928272

AU076705

chr10:
9345901-9345901

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-1715-003

chr10:
9896420-9896420

T

TAC

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-0022-004

chr10:
9998401-9998401

A

G

intergenic

De novo

-

Yuen2017 G

LOC101928272

2-1252-003

chr10:
9885745-9885745

A

T

intergenic

De novo

-

Yuen2017 G

LOC101928272

AU045010

chr10:
9315764-9315764

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928272

AU2381302

chr10:
9257255-9257266

TTCTCTCTCTCT

TTCTCTCTCT

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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