Homo sapiens
Female
single organism
Asian
SD 54G4WG4R
not Hispanic or Latino
CHARGE syndrome
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Ventricular septal defect
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the ...
Anteriorly placed anus
Anterior malposition of the anus.
Tricuspid atresia
Failure to develop of the tricuspid valve and thus lack of the normal connection between the right a...
BS H2S5D1DA
A biosample from Kids First produced as part of the SD 54G4WG4R project
47a48184-0f87-4e4c-9b07-4cbf20b3a74c.multi.vqsr.filtered.denovo.vep 105.vcf.gz
A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
3b7aa25c-5e23-49b7-85c3-a9773588c2de.CGP.filtered.deNovo.vep.vcf.gz.tbi
3b7aa25c-5e23-49b7-85c3-a9773588c2de.CGP.filtered.deNovo.vep.vcf.gz
3b7aa25c-5e23-49b7-85c3-a9773588c2de.peddy.ped check.csv
3b7aa25c-5e23-49b7-85c3-a9773588c2de.peddy.peddy.ped
3b7aa25c-5e23-49b7-85c3-a9773588c2de.variant calling detail metrics