Variant Results

or

Results for "LOC101928283"

Variant Events: 65

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

LOC101928283

2-1605-003

chr7:
125102510-125102510

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-0063-005

chr7:
125260689-125260689

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-0309-005

chr7:
125461490-125461490

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-1154-003

chr7:
125776077-125776077

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

A2

chr7:
125608943-125608943

G

A

intergenic

De novo

-

Wu2018 G

LOC101928283

1-0871-003

chr7:
125884185-125884185

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU4211304

chr7:
125416668-125416668

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU043804

chr7:
125220758-125220758

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0375-003

chr7:
125997346-125997346

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101928283

AU043804

chr7:
125857597-125857597

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-1510-003

chr7:
124865174-124865174

A

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928283

2-1521-003

chr7:
125060818-125060818

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU0146301

chr7:
125823779-125823779

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0300-004

chr7:
125490643-125490643

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-1480-003

chr7:
125472695-125472695

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-1188-003

chr7:
125378769-125378769

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-1188-003

chr7:
125217511-125217511

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

5-0003-004

chr7:
125758470-125758473

AAAC

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU4089302

chr7:
125792912-125792912

C

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0990-003

chr7:
124990108-124990108

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928283

AU4072303

chr7:
125392800-125392800

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0914-003

chr7:
125001828-125001828

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928283

1-0150-004

chr7:
125770854-125770854

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU3903302

chr7:
126022824-126022824

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU3782302

chr7:
125262960-125262960

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

A19

chr7:
125035491-125035491

G

T

intergenic

De novo

-

Wu2018 G

LOC101928283

1-0566-003

chr7:
126011296-126011313

AAGAGAGAGAGAGAGAGA

AAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-1152-003

chr7:
125210454-125210454

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101928283

2-1725-003

chr7:
125955651-125955651

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU045512

chr7:
126023005-126023005

T

G

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU1668302

chr7:
125675286-125675286

A

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU3866301

chr7:
125943652-125943652

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU4067303

chr7:
125685742-125685742

C

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU4067303

chr7:
125686252-125686252

C

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0514-003

chr7:
125387885-125387885

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101928283

2-1386-003

chr7:
125383821-125383821

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0142-005

chr7:
125873719-125873719

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0099-003

chr7:
124826169-124826171

GAA

GAAA

ncRNA_exonic

De novo

-

Yuen2017 G

LOC101928283

AU3861303

chr7:
126002283-126002283

T

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0197-004

chr7:
125467520-125467520

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0466-003

chr7:
125939101-125939101

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

74-0352

chr7:
125104950-125104950

T

C

intergenic

De novo

-

Michaelson2012 G

LOC101928283

AU3680301

chr7:
125839963-125839963

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

3-0434-000

chr7:
125552256-125552256

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-0198-003

chr7:
125477308-125477308

A

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-0198-003

chr7:
125207248-125207248

T

G

intergenic

De novo

-

Yuen2017 G

LOC101928283

14153.p1

chr7:
125843024-125843024

C

T

intergenic

De novo

-

Turner2016 G

LOC101928283

1-0259-005

chr7:
125489312-125489313

GC

G

intergenic

De novo

-

Yuen2017 G

LOC101928283

13324.p1

chr7:
125975485-125975485

C

T

intergenic

De novo

-

Turner2016 G

LOC101928283

12529.p1

chr7:
124807680-124807680

G

C

intergenic

De novo

-

Turner2016 G

LOC101928283

AU3846302

chr7:
124836513-124836513

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101928283

11572.p1

chr7:
124964598-124964598

C

G

ncRNA_intronic

De novo

-

Turner2016 G

LOC101928283

1-0885-003

chr7:
125742899-125742899

C

T

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-0022-004

chr7:
125778292-125778292

T

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

2-1313-003

chr7:
125794464-125794464

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101928283

11456.p1

chr7:
125982209-125982209

G

A

intergenic

De novo

-

Turner2016 G

LOC101928283

1-0329-004

chr7:
125873782-125873782

A

C

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU038203

chr7:
125407581-125407581

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU066104

chr7:
125608833-125608833

C

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

7-0127-003

chr7:
125974561-125974561

G

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0526-003

chr7:
125099913-125099913

A

G

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0197-003

chr7:
125790230-125790230

A

G

intergenic

De novo

-

Yuen2017 G

LOC101928283

AU3721302

chr7:
125474871-125474871

C

A

intergenic

De novo

-

Yuen2017 G

LOC101928283

1-0400-003

chr7:
125879061-125879061

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101928283

5-0065-003

chr7:
124980547-124980551

CAGGA

C

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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