Examples

Each example’s page details where the example was sourced from, how each property was populated, and includes both JSON and YAML versions of the example inline.

In addition, BRAF V600 (annotated) and TP53 Loss (annotated) have been written with inline comments in the YAML version of the example. They may be particularly helpful when initiating to this specification.

By Constraint

Constraint	Representative examples
Adjacency	?::ZNF384(ncbi:171017) BCR(ncbi:613)::ABL1(ncbi:25) FGFR2(hgnc:3689)::v v::NTRK1(hgnc:8031)
Copy Change	GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3 TP53 Loss
Copy Count	GRCh38 Xp22.31(chrX:6978350-7594949)x3 GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3
Defining Allele	EGFR L858R NC_000001.11:g.1699974C>G NM_004958.4(MTOR):c.5992_5993del (p.Met1998fs) NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) PIK3CA p.R38H
Defining Location	BRAF V600 GRCh38 Xp22.31(chrX:6978350-7594949)x3 GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3 (copy count) GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3 (copy change) TP53 Loss
Feature Context	BRCA2 loss of function variants NRAS functionally normal variants PIK3CA p.R38H TP53 Loss
Function	BRCA2 loss of function variants NRAS functionally normal variants PIK3CA p.R38H
None	t(2;15)(q23.1;q25.3)