Variant Results

or

Results for "CCDC85A"

Variant Events: 114

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

CCDC85A

AU034904

chr2:
57906457-57906457

T

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0352-005

chr2:
57280379-57280379

T

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

18.s1

chr2:
56420613-56420613

G

A

intronic

De novo

-

An2014 E

CCDC85A

2-0003-004

chr2:
56795292-56795292

A

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0458-004

chr2:
57048566-57048566

T

TTCTA

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0458-004

chr2:
56416515-56416515

C

T

intronic

De novo

-

Yuen2017 G

CCDC85A

3-0246-000

chr2:
56845805-56845805

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

5-0073-003

chr2:
57669447-57669447

T

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0214-003

chr2:
56447572-56447572

G

A

intronic

De novo

-

Yuen2017 G

CCDC85A

AU4015301

chr2:
56874554-56874554

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1195-003

chr2:
57538710-57538710

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-0304-004

chr2:
57641149-57641149

A

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0200-004

chr2:
57429044-57429049

ATTAAG

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1352-003

chr2:
56474718-56474718

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

2-1127-003

chr2:
57755197-57755197

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

2-1212-003

chr2:
56986857-56986857

A

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU3517301

chr2:
56577717-56577717

G

A

intronic

De novo

-

Yuen2017 G

CCDC85A

2-0289-004

chr2:
58006350-58006350

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0665-003

chr2:
57740782-57740782

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU3779301

chr2:
56746322-56746322

T

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1350-004

chr2:
57512204-57512204

A

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU3779301

chr2:
56828614-56828614

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0191-004

chr2:
56943945-56943945

G

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

3-0307-000

chr2:
57239592-57239592

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

3-0307-000

chr2:
57694394-57694394

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU1860302

chr2:
57394340-57394340

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU1860302

chr2:
57404684-57404684

G

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0112-003

chr2:
57491316-57491316

G

GT

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1644-003

chr2:
58107842-58107842

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

7-0032-003

chr2:
58132579-58132579

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU1940304

chr2:
56596035-56596035

C

T

intronic

De novo

-

Yuen2017 G

CCDC85A

2-0198-003

chr2:
57238061-57238061

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU030103

chr2:
56529125-56529125

T

G

intronic

De novo

-

Yuen2017 G

CCDC85A

1-0305-004

chr2:
57095658-57095662

GTATA

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

7-0188-003

chr2:
57225961-57225961

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1408-003

chr2:
57644728-57644728

G

C

intergenic

Maternal

-

Yuen2017 G

CCDC85A

AU3768302

chr2:
57109368-57109368

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0401-003

chr2:
57258239-57258239

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0604-003

chr2:
57355682-57355682

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU4152303

chr2:
57035867-57035867

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0352-003

chr2:
57280379-57280379

T

C

intergenic

De novo

-

Yuen2016 G

CCDC85A

2-1291-003

chr2:
57985665-57985665

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

5-0055-004

chr2:
57072074-57072074

G

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1466-003

chr2:
58023096-58023096

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

2-1005-003

chr2:
56611821-56611821

G

T

UTR3

De novo

-

Yuen2017 G

CCDC85A

AU2075302

chr2:
57524859-57524859

G

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU2075302

chr2:
57532392-57532392

T

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU4476302

chr2:
56883821-56883821

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1461-003

chr2:
57274403-57274403

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

AU2075302

chr2:
57520445-57520445

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

7-0024-003

chr2:
56647462-56647462

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU2075302

chr2:
57523435-57523435

C

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0252-003

chr2:
57282806-57282806

G

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0092-003

chr2:
57480209-57480218

ACTCCAGCCC

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU3517302

chr2:
56537088-56537088

T

C

intronic

De novo

-

Yuen2017 G

CCDC85A

1-0169-003

chr2:
57103479-57103479

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1329-003

chr2:
57549711-57549711

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

1-0190-003

chr2:
58090527-58090527

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0448-003

chr2:
56690406-56690406

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0215-006

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

CCDC85A

AU071804

chr2:
56823168-56823168

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

7-0100-003

chr2:
57343083-57343083

T

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0458-003

chr2:
57970494-57970494

G

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU4444304

chr2:
57014245-57014245

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU4444304

chr2:
57016129-57016129

G

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU073005

chr2:
56752926-56752926

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-0286-004

chr2:
56580847-56580847

A

T

intronic

De novo

-

Yuen2017 G

CCDC85A

1-0566-003

chr2:
56606468-56606468

C

A

intronic

De novo

-

Yuen2017 G

CCDC85A

2-1398-003

chr2:
57823515-57823515

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU030104

chr2:
56529125-56529125

T

G

intronic

De novo

-

Yuen2017 G

CCDC85A

AU3646301

chr2:
57594226-57594226

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU3692302

chr2:
56555082-56555082

A

T

intronic

De novo

-

Yuen2017 G

CCDC85A

AU3646301

chr2:
57594352-57594352

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0203-004

chr2:
56944191-56944191

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

3-0209-000

chr2:
57135567-57135567

T

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1408-004

chr2:
57644728-57644728

G

C

intergenic

Maternal

-

Yuen2017 G

CCDC85A

1-0973-003

chr2:
57690482-57690482

T

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

5-0061-003

chr2:
57451388-57451388

T

TTTGATATTTTGATAAAAAATA

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1696-003

chr2:
56783444-56783444

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-0214-004

chr2:
57752937-57752937

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1508-004

chr2:
57541893-57541893

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1383-003

chr2:
57974206-57974206

A

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1330-003

chr2:
57550248-57550248

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

5-0004-003

chr2:
57003786-57003786

G

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU072504

chr2:
56878619-56878619

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

5-0071-003

chr2:
57129191-57129191

T

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1330-003

chr2:
57542948-57542948

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

1-0354-003

chr2:
57849983-57849983

G

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0354-003

chr2:
57740281-57740281

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0354-003

chr2:
57179978-57179978

G

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

7-0001-003

chr2:
57924406-57924406

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

7-0128-003

chr2:
57058492-57058492

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU3889305

chr2:
57936962-57936962

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0473-003

chr2:
56919469-56919469

T

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1328-003

chr2:
57906106-57906106

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

1-0565-003

chr2:
57857865-57857865

C

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0652-003

chr2:
57624026-57624026

T

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU038203

chr2:
57023511-57023511

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU039304

chr2:
57941373-57941373

C

T

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0006-004

chr2:
57432962-57432962

G

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU2569301

chr2:
57785370-57785379

TTAAATAAAT

TTAAAT

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0467-005

chr2:
56658285-56658286

GT

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1093-009

chr2:
58113454-58113455

AT

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

1-0092-004

chr2:
57480209-57480218

ACTCCAGCCC

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-0028-003

chr2:
57361759-57361759

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC85A

AU058104

chr2:
56461347-56461353

TCTCCTC

TCTC

intronic

De novo

-

Yuen2017 G

CCDC85A

AU1860301

chr2:
56649602-56649602

T

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

5-0017-004

chr2:
57056402-57056402

T

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU3763305

chr2:
57995886-57995886

A

G

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU3763305

chr2:
57996255-57996255

G

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-0057-003

chr2:
57234158-57234158

C

A

intergenic

De novo

-

Yuen2017 G

CCDC85A

2-1134-003

chr2:
56632664-56632664

A

C

intergenic

De novo

-

Yuen2017 G

CCDC85A

AU047704

chr2:
56501699-56501699

A

G

intronic

De novo

-

Yuen2017 G

CCDC85A

AU072905

chr2:
57551070-57551070

T

C

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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