46a75629-9736-402b-9af1-114c8295b25b.multi.vqsr.filtered.denovo.vep 105.vcf.gz (File)

Name: 46a75629-9736-402b-9af1-114c8295b25b.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Creator: Kids First
Published: 2024-04-23 22:11:24.709937

Project:

SD 54G4WG4R

Project (Entity type)

Ncbi Taxonomy:

Homo sapiens

Taxonomy (Entity type)

File Format:

VCF

File Format (Entity type)

Disease:

CHARGE syndrome

Disease (Entity type)

Dcc Asset:

2026Q3 C2M2 datapackage.zip

Processed File (Entity type)

Dcc:

Kids First

DCC (Entity type)

Data Type:

Sequence variations

Data Type (Entity type)

Assay Type:

whole genome sequencing assay

Assay Type (Entity type)

Filename:46a75629-9736-402b-9af1-114c8295b25b.multi.vqsr.filtered.denovo.vep_105.vcf.gz

Dbgap Study Id:phs002592

Creation Time:2024-04-23 22:11:24.709937

Access URL:

s3://kf-strides-study-us-east-1-prd-sd-54g4wg4r-nci/harmonized-data/family-variants/46a75629-9736-402b-9af1-114c8295b25b.multi.vqsr.filtered.denovo.vep_105.vcf.gz

Workbench DRS:

drs://cfde.cloud/011fce8c-06bf-509d-85e1-463625f3c783

Results found

Linked to

	Label	Description
	PT 0R6XFP0Z Subject (Entity type)	A subject produced as part of the SD 54G4WG4R project
	PT GYZNE11N Subject (Entity type)	A subject produced as part of the SD 54G4WG4R project
	PT HYPK75YH Subject (Entity type)	A subject produced as part of the SD 54G4WG4R project
	BS EKPGHC8P Biosample (Entity type)	A biosample from Kids First produced as part of the SD 54G4WG4R project
	BS JG700GGB Biosample (Entity type)	A biosample from Kids First produced as part of the SD 54G4WG4R project
	BS 3TJT18HC Biosample (Entity type)	A biosample from Kids First produced as part of the SD 54G4WG4R project

PT 0R6XFP0Z

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

PT GYZNE11N

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

PT HYPK75YH

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

BS EKPGHC8P

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 54G4WG4R project

BS JG700GGB

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 54G4WG4R project

BS 3TJT18HC

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 54G4WG4R project

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Community

Resources

@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.