Variant Results

or

Results for "MUC16"

Variant Events: 69

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

MUC16

1-0570-003

chr19:
9159161-9159161

T

C

intergenic

De novo

-

Yuen2017 G

MUC16

JASD_Fam0024

chr19:
8976388-8976388

G

GTGC

exonic

De novo

nonframeshift insertion

NM_024690

c.42439_42440insGCA

p.T14147delinsST

-

Takata2018 E

MUC16

AU231A

chr19:
9038453-9038453

T

C

intronic

De novo

-

Satterstrom2020 E

MUC16

SP0126819

chr19:
9062075-9062075

C

T

exonic

De novo

synonymous SNV

NM_024690

c.G25371A

p.R8457R

-

8.286E-6

Fu2022 E

MUC16

SP0115123

chr19:
9087241-9087241

C

T

exonic

De novo

nonsynonymous SNV

NM_024690

c.G4574A

p.S1525N

1.623

-

Fu2022 E

MUC16

SP0042459

chr19:
8966826-8966826

G

A

intronic

De novo

-

Fu2022 E

MUC16

2-1632-003

chr19:
9061712-9061712

T

C

exonic

De novo

synonymous SNV

NM_024690

c.A25734G

p.T8578T

-

Yuen2017 G

MUC16

SP0058138

chr19:
9077030-9077030

T

C

exonic

De novo

synonymous SNV

NM_024690

c.A10416G

p.T3472T

-

Fu2022 E

MUC16

SP0098809

chr19:
9045912-9045912

T

C

exonic

De novo

nonsynonymous SNV

NM_024690

c.A35719G

p.I11907V

6.299

8.287E-6

Fu2022 E

MUC16

SP0004319

chr19:
9000488-9000488

G

T

exonic

De novo

nonsynonymous SNV

NM_024690

c.C40496A

p.P13499H

11.94

-

Fu2022 E

MUC16

G01-GEA-73-HI

chr19:
9016949-9016950

CA

C

intronic

De novo

-

Satterstrom2020 E

MUC16

SP0080453

chr19:
9076735-9076735

C

G

exonic

De novo

nonsynonymous SNV

NM_024690

c.G10711C

p.E3571Q

2.094

-

Fu2022 E

MUC16

SP0102270

chr19:
9072050-9072050

G

T

exonic

De novo

nonsynonymous SNV

NM_024690

c.C15396A

p.N5132K

1.997

-

Fu2022 E

MUC16

1-0354-003

chr19:
9177696-9177696

A

AG

intergenic

De novo

-

Yuen2017 G

MUC16

SP0007121

chr19:
9019279-9019279

G

A

exonic

De novo

synonymous SNV

NM_024690

c.C37608T

p.P12536P

-

8.361E-5

Fu2022 E

MUC16

SP0065978

chr19:
8998805-8998805

A

C

intronic

De novo

-

Fu2022 E

MUC16

SP0045624

chr19:
8966908-8966908

C

CAGG

intronic

De novo

-

Fu2022 E

MUC16

2-0503-003

chr19:
9177469-9177469

A

AG

intergenic

De novo

-

Yuen2017 G

MUC16

SP0011998

chr19:
9017071-9017071

G

A

intronic

De novo

-

Fu2022 E

MUC16

SP0010081

chr19:
8962089-8962089

G

A

intronic

De novo

-

Fu2022 E

MUC16

EGAN00001101153

chr19:
9063533-9063533

G

T

exonic

De novo

synonymous SNV

NM_024690

c.C23913A

p.S7971S

-

Fu2022 E
Satterstrom2020 E

MUC16

iHART2410

chr19:
9005197-9005198

TG

T

exonic

Paternal

frameshift deletion

NM_024690

c.39879delC

p.T13293fs

-

Ruzzo2019 G

MUC16

AU003403

chr19:
9071897-9071897

C

T

exonic

De novo

synonymous SNV

NM_024690

c.G15549A

p.E5183E

-

Yuen2017 G

MUC16

1-0224-004

chr19:
9007084-9007084

G

C

intronic

De novo

-

Yuen2017 G

MUC16

iHART1752

chr19:
9061269-9061271

CTT

C

exonic

Maternal

frameshift deletion

NM_024690

c.26175_26176del

p.R8725fs

-

Ruzzo2019 G

MUC16

iHART1751

chr19:
9061269-9061271

CTT

C

exonic

Maternal

frameshift deletion

NM_024690

c.26175_26176del

p.R8725fs

-

Ruzzo2019 G

MUC16

iHART2656

chr19:
9061533-9061537

TTCTC

T

exonic

Paternal

frameshift deletion

NM_024690

c.25909_25912del

p.E8637fs

-

Ruzzo2019 G

MUC16

1-0395-004

chr19:
9177696-9177696

A

AG

intergenic

De novo

-

Yuen2017 G

MUC16

iHART1754

chr19:
9061269-9061271

CTT

C

exonic

Maternal

frameshift deletion

NM_024690

c.26175_26176del

p.R8725fs

-

Ruzzo2019 G

MUC16

iHART2412

chr19:
9005197-9005198

TG

T

exonic

Paternal

frameshift deletion

NM_024690

c.39879delC

p.T13293fs

-

Ruzzo2019 G

MUC16

iHART2411

chr19:
9005197-9005198

TG

T

exonic

Paternal

frameshift deletion

NM_024690

c.39879delC

p.T13293fs

-

Ruzzo2019 G

MUC16

iHART3177

chr19:
9049777-9049778

GA

G

exonic

Maternal

frameshift deletion

NM_024690

c.31853delT

p.F10618fs

-

Ruzzo2019 G

MUC16

iHART2591

chr19:
9049518-9049518

C

A

exonic

Maternal

stopgain

NM_024690

c.G32113T

p.E10705X

60.0

-

Ruzzo2019 G

MUC16

AU1521301

chr19:
9127720-9127727

GCCACCAC

GCCAC

intergenic

De novo

-

Yuen2017 G

MUC16

1-0593-003

chr19:
9163013-9163027

TTATATATATATATA

TTATATATATATA

intergenic

De novo

-

Yuen2017 G

MUC16

iHART2624

chr19:
9087829-9087830

TC

T

exonic

Maternal

frameshift deletion

NM_024690

c.3985delG

p.D1329fs

-

1.656E-5

Ruzzo2019 G

MUC16

iHART2687

chr19:
9066613-9066615

ACT

A

exonic

Maternal

frameshift deletion

NM_024690

c.20831_20832del

p.E6944fs

-

Ruzzo2019 G

MUC16

iHART2303

chr19:
9089941-9089942

TG

T

exonic

Maternal

frameshift deletion

NM_024690

c.1873delC

p.H625fs

-

1.0E-4

Ruzzo2019 G

MUC16

iHART2623

chr19:
9087829-9087830

TC

T

exonic

Maternal

frameshift deletion

NM_024690

c.3985delG

p.D1329fs

-

1.656E-5

Ruzzo2019 G

MUC16

1-0579-003

chr19:
9013256-9013271

ACATCATCATCATCAT

ACATCATCATCAT

intronic

De novo

-

Yuen2017 G

MUC16

2-1174-005B

chr19:
9007096-9007096

A

C

intronic

De novo

-

Yuen2017 G

MUC16

SP0027722

chr19:
9058886-9058886

C

A

exonic

De novo

synonymous SNV

NM_024690

c.G28560T

p.A9520A

-

1.66E-5

Feliciano2019 E
Fu2022 E

MUC16

A32

chr19:
9186183-9186183

C

A

intergenic

De novo

-

Wu2018 G

MUC16

09C97625

chr19:
9067023-9067025

GAA

G

exonic

De novo

frameshift deletion

NM_024690

c.20421_20422del

p.P6807fs

-

1.0E-4

Satterstrom2020 E

MUC16

35890

chr19:
9084772-9084772

G

C

exonic

De novo

nonsynonymous SNV

NM_024690

c.C7043G

p.T2348R

1.392

-

Fu2022 E

MUC16

1729001

chr19:
9077729-9077729

C

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.G9717T

p.E3239D

6.218

8.281E-6

Fu2022 E

MUC16

NP134

chr19:
8976388-8976388

G

GTGC

exonic

De novo

nonframeshift insertion

NM_024690

c.42439_42440insGCA

p.T14147delinsST

-

Fu2022 E

MUC16

1-0539-003

chr19:
9179035-9179035

T

C

intergenic

De novo

-

Yuen2017 G

MUC16

14239_p1

chr19:
9062572-9062572

C

T

exonic

De novo

nonsynonymous SNV

NM_024690

c.G24874A

p.A8292T

5.527

1.657E-5

Fu2022 E

MUC16

2-1205-003

chr19:
9190901-9190901

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MUC16

F10174-1

chr19:
8973574-8973574

G

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.C42742T

p.R14248C

8.096

3.081E-5

Fu2022 E

MUC16

1-0559-003

chr19:
9199297-9199297

C

T

intergenic

De novo

-

Yuen2017 G

MUC16

5422

chr19:
9074510-9074510

T

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.A12936T

p.R4312S

0.582

-

Fu2022 E

MUC16

ASC_9013

chr19:
9066189-9066189

C

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.G21257T

p.S7086I

3.12

-

Fu2022 E

MUC16

SSC10197

chr19:
9061798-9061798

G

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.C25648T

p.P8550S

1.961

-

Fu2022 E
Lim2017 E

MUC16

Lim2017:35890

chr19:
9084772-9084772

G

C

exonic

De novo

nonsynonymous SNV

NM_024690

c.C7043G

p.T2348R

1.392

-

Lim2017 E

MUC16

Lim2017:5422

chr19:
9074510-9074510

T

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.A12936T

p.R4312S

0.582

-

Lim2017 E

MUC16

AU2863303

chr19:
9112051-9112051

C

T

intergenic

De novo

-

Yuen2017 G

MUC16

7-0133-003

chr19:
9158030-9158030

T

G

intergenic

De novo

-

Yuen2017 G

MUC16

13980.p1

chr19:
9061798-9061798

G

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.C25648T

p.P8550S

1.961

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MUC16

14239.p1

chr19:
9062572-9062572

C

T

exonic

De novo

nonsynonymous SNV

NM_024690

c.G24874A

p.A8292T

5.527

1.657E-5

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

MUC16

11545.p1

chr19:
9074510-9074510

T

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.A12936T

p.R4312S

0.582

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

MUC16

1-0382-003

chr19:
9007148-9007148

C

CGTCATCATAATCATCATAAACAGCA

intronic

De novo

-

Yuen2017 G

MUC16

11868.p1

chr19:
9084772-9084772

G

C

exonic

De novo

nonsynonymous SNV

NM_024690

c.C7043G

p.T2348R

1.392

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

MUC16

1-0338-005

chr19:
9177469-9177469

A

AG

intergenic

De novo

-

Yuen2017 G

MUC16

SP0041539

chr19:
9075330-9075330

C

A

exonic

De novo

nonsynonymous SNV

NM_024690

c.G12116T

p.G4039V

4.159

-

Feliciano2019 E
Fu2022 E

MUC16

5-0083-003

chr19:
9116075-9116075

A

G

intergenic

De novo

-

Yuen2017 G

MUC16

9190736

chr19:
9091529-9091529

G

T

exonic

De novo

nonsynonymous SNV

NM_024690

c.C286A

p.H96N

1.715

-

Fu2022 E

MUC16

14110.p1

chr19:
9005515-9005515

C

G

intronic

De novo

-

5.019E-5

Satterstrom2020 E

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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