Variant Results

or

Results for "TNKS"

Variant Events: 59

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

TNKS

1-1169-003

chr8:
9630350-9630350

T

TA

intronic

De novo

-

Trost2022 G

TNKS

MSSNG00346-004

chr8:
9632276-9632276

G

A

intronic

De novo

-

Trost2022 G

TNKS

4-0077-003

chr8:
9623905-9623906

AC

CA

exonic

De novo

nonframeshift substitution

NM_003747

c.3710_3711CA

N/A

-

Trost2022 G

TNKS

4-0062-003

chr8:
9623905-9623906

AC

CA

exonic

De novo

nonframeshift substitution

NM_003747

c.3710_3711CA

N/A

-

Trost2022 G

TNKS

B5X9C-01

chr8:
9574891-9574891

A

G

intronic

De novo

-

Trost2022 G

TNKS

2-1336-003

chr8:
9732272-9732272

A

AAAG

intergenic

De novo

-

Yuen2017 G

TNKS

3-0385-000

chr8:
9614945-9614945

C

G

intronic

De novo

-

Trost2022 G

TNKS

AU0146301

chr8:
9581819-9581819

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

1-0126-003

chr8:
9467916-9467916

T

C

intronic

De novo

-

Yuen2017 G

TNKS

2-1277-004

chr8:
9523358-9523358

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

5-0033-004

chr8:
9561088-9561088

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

5-0055-003

chr8:
9497891-9497891

T

A

intronic

De novo

-

Yuen2017 G

TNKS

2-1487-003

chr8:
9603340-9603340

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

7-0129-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

TNKS

2-1487-003

chr8:
9618939-9618939

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

12175.p1

chr8:
9505265-9505265

A

G

intronic

De novo

-

Turner2016 G

TNKS

G01-GEA-163-HI

chr8:
9634110-9634110

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

TNKS

2-0198-005

chr8:
9564724-9564724

G

A

intronic

De novo

-

Yuen2017 G

TNKS

7-0248-003

chr8:
9431903-9431903

C

A

intronic

De novo

-

Yuen2017 G

TNKS

AU4444304

chr8:
9564321-9564321

C

G

exonic

De novo

nonsynonymous SNV

NM_003747

c.C1270G

p.H424D

22.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

TNKS

AU4444304

chr8:
9568639-9568639

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

AU4444304

chr8:
9569472-9569472

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

1-0455-004

chr8:
9468667-9468667

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

2-1382-003

chr8:
9705148-9705148

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TNKS

2-0299-005

chr8:
9629438-9629438

G

GGGAGGGAGAAA

intronic

De novo

-

Yuen2017 G

TNKS

2-0198-004

chr8:
9564724-9564724

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

12026.p1

chr8:
9473105-9473105

C

T

exonic

De novo

synonymous SNV

NM_003747

c.C912T

p.H304H

-

1.816E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

TNKS

11569.p1

chr8:
9567627-9567627

T

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

TNKS

11569.p1

chr8:
9567684-9567684

G

C

exonic

De novo

nonsynonymous SNV

NM_003747

c.G1703C

p.R568T

18.48

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TNKS

G01-GEA-260-HI

chr8:
9623248-9623248

G

C

exonic

De novo

nonsynonymous SNV

NM_003747

c.G3494C

p.R1165P

33.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TNKS

2-1317-003

chr8:
9625630-9625630

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TNKS

SSC05223

chr8:
9473105-9473105

C

T

exonic

De novo

synonymous SNV

NM_003747

c.C912T

p.H304H

-

1.816E-5

Fu2022 E
Lim2017 E
Trost2022 G

TNKS

1-0332-003

chr8:
9463649-9463649

T

CC

intronic

De novo

-

Trost2022 G

TNKS

2-1605-003

chr8:
9463649-9463649

T

CC

intronic

De novo

-

Trost2022 G

TNKS

1-0332-003

chr8:
9463645-9463645

G

GCC

intronic

De novo

-

Trost2022 G

TNKS

2-0202-004

chr8:
9463645-9463645

G

GCC

intronic

De novo

-

Trost2022 G

TNKS

1-0292-005

chr8:
9621972-9621972

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

mAGRE5818

chr8:
9610134-9610134

C

T

exonic

Maternal

stopgain

NM_003747

c.C3151T

p.Q1051X

44.0

-

Cirnigliaro2023 G

TNKS

7-0352-003

chr8:
9434954-9434954

C

T

intronic

De novo

-

Trost2022 G

TNKS

1-0826-004

chr8:
9484536-9484536

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TNKS

1-0294-003

chr8:
9512453-9512453

T

A

intronic

De novo

-

Trost2022 G

TNKS

1032

chr8:
9516637-9516637

A

G

intronic

De novo

-

Trost2022 G

TNKS

2-1215-003

chr8:
9716334-9716334

C

T

intergenic

De novo

-

Yuen2017 G

TNKS

3-0515-001

chr8:
9500737-9500737

T

C

intronic

De novo

-

Trost2022 G

TNKS

1-0272-004

chr8:
9500737-9500737

T

C

intronic

De novo

-

Trost2022 G

TNKS

3-0515-001

chr8:
9500732-9500733

AT

G

intronic

De novo

-

Trost2022 G

TNKS

1-0272-004

chr8:
9500732-9500733

AT

G

intronic

De novo

-

Trost2022 G

TNKS

AU2427303

chr8:
9698819-9698819

A

T

intergenic

De novo

-

Yuen2017 G

TNKS

2-0202-004

chr8:
9463649-9463649

T

CC

intronic

De novo

-

Trost2022 G

TNKS

5-0043-003

chr8:
9480824-9480824

T

C

intronic

De novo

-

Trost2022 G

TNKS

1-1036-003

chr8:
9561089-9561089

T

G

intronic

De novo

-

Trost2022 G

TNKS

MSSNG00219-003

chr8:
9568589-9568589

A

AT

intronic

De novo

-

Trost2022 G

TNKS

MSSNG00360-003

chr8:
9555974-9555974

A

G

intronic

De novo

-

Trost2022 G

TNKS

MSSNG00360-003

chr8:
9558296-9558296

A

T

intronic

De novo

-

Trost2022 G

TNKS

1-0520-003

chr8:
9530828-9530828

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TNKS

MSSNG00360-003

chr8:
9551409-9551409

C

A

intronic

De novo

-

Trost2022 G

TNKS

MSSNG00242-003

chr8:
9552331-9552331

A

G

intronic

De novo

-

Trost2022 G

TNKS

4-0069-003

chr8:
9544576-9544576

G

A

intronic

De novo

-

Trost2022 G

TNKS

MSSNG00360-003

chr8:
9545848-9545848

A

C

intronic

De novo

-

Trost2022 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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