Variant Results

or

Results for "LOC101929231"

Variant Events: 56

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

LOC101929231

2-0273-003

chr2:
150624973-150624973

A

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

2-0299-003

chr2:
150463245-150463245

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

2-1322-004

chr2:
151269904-151269904

G

A

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU3506302

chr2:
151021043-151021043

G

A

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU008505

chr2:
150692922-150692922

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

AU3728301

chr2:
150835788-150835788

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0010-005

chr2:
150940059-150940059

A

G

intergenic

De novo

-

Yuen2017 G

LOC101929231

2-1160-003

chr2:
150477906-150477906

G

A

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101929231

AU4239301

chr2:
151267743-151267743

C

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU3840302

chr2:
151308715-151308715

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU2495302

chr2:
150690417-150690417

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

1-0067-005

chr2:
151096715-151096715

A

AGGCT

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU4015301

chr2:
150707442-150707442

G

A

intergenic

De novo

-

Yuen2017 G

LOC101929231

7-0100-003

chr2:
150940217-150940217

C

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0206-005

chr2:
151247992-151247992

C

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0203-004

chr2:
150977236-150977236

G

A

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0203-004

chr2:
150963979-150963979

G

A

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU3794301

chr2:
151309400-151309400

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

A14

chr2:
151312968-151312968

G

C

intergenic

De novo

-

Wu2018 G

LOC101929231

AU3761302

chr2:
150502385-150502385

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

2-1184-003

chr2:
150549798-150549798

T

C

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101929231

13649.p1

chr2:
150953353-150953353

C

T

intergenic

De novo

-

Turner2016 G

LOC101929231

1-0973-003

chr2:
150526908-150526908

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

1-0560-003

chr2:
150942198-150942198

C

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0488-003

chr2:
150799482-150799482

C

G

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU2123301

chr2:
150585418-150585418

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

AU2123301

chr2:
150697497-150697503

TAGGGAG

TAG

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

1-0226-005

chr2:
151004595-151004595

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU4315302

chr2:
151189498-151189498

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

11115.p1

chr2:
151184407-151184407

G

A

intergenic

De novo

-

Wilfert2021 G

LOC101929231

1-0171-005

chr2:
150534614-150534614

A

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

2-1735-003

chr2:
151198375-151198375

A

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU3125301

chr2:
151209052-151209052

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU3761301

chr2:
150502385-150502385

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

1-0051-004

chr2:
151036076-151036076

G

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU3122301

chr2:
150971104-150971104

C

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0353-003

chr2:
151125760-151125760

A

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0079-008

chr2:
150534086-150534086

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

1-0006-004

chr2:
151004595-151004595

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU060403

chr2:
151096398-151096398

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

A23

chr2:
150966190-150966190

C

T

intergenic

De novo

-

Wu2018 G

LOC101929231

AU2035302

chr2:
151250864-151250864

T

G

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0509-003

chr2:
151039252-151039252

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101929231

5-0040-003

chr2:
151248728-151248728

G

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0153-004

chr2:
150656105-150656105

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

2-1089-004

chr2:
150668032-150668032

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

AU050403

chr2:
150929427-150929427

C

G

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU2035301

chr2:
151250864-151250864

T

G

intergenic

De novo

-

Yuen2017 G

LOC101929231

5-0140-003

chr2:
150843215-150843215

T

G

intergenic

De novo

-

Yuen2017 G

LOC101929231

AU3806304

chr2:
151314609-151314609

T

G

intergenic

De novo

-

Yuen2017 G

LOC101929231

7-0253-004

chr2:
151033414-151033414

T

C

intergenic

De novo

-

Yuen2017 G

LOC101929231

1-0668-003

chr2:
150458862-150458862

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

AU2433303

chr2:
150680720-150680720

A

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC101929231

AU4283301

chr2:
151023563-151023563

C

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

2-0142-004

chr2:
151203985-151203985

C

T

intergenic

De novo

-

Yuen2017 G

LOC101929231

2-1313-003

chr2:
150531426-150531426

T

G

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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