Variant review examples

• Capture deep sequencing: TP53 exonic 18-bp deletion
• CBL exonic complex mutation: WRONG variant call, CORRECTED variant call, record of this variant. Exome-seq
• RNA-seq: SETD2 splice site 5-bp insertion
• Multi-allelic KIT exonic complex mutations in one tumor: first mutant allele, second mutant allele, third mutant allele, Multi-allele complex-indel with three variants. RNA-seq

Other Features

• Discordant reads at: focal deletion, translocation, inversion

Access BAM files in the NCI GDC portal

• Examples with: case ID, case UUID, file ID

Genotyping method