Identifier for the transcribed reference sequence that is part of the genetic reference sequence that gets converted to messenger RNA. A transcript is an RNA synthesized on a DNA or RNA template by an RNA polymerase (SO:0000673 ).

Reference identifier for protein transcript, with version, from NCBI's RefSeq or ENSEMBL. A protein is a sequence of amino acids linked by peptide bonds which may lack appreciable tertiary structure and may not be liable to irreversible denaturation (SO:0000104 ).

A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A (variant_of ). This element is the Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA sequence variant(s) identified in testing. Reference sequence ID used for HGVS naming must be anotated.

Identifier for DNA sequence variant. If a germline variant, ClinVar or dbSNP identifier should be used. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC).

Codified type for associated DNA sequence variant. DNA sequence variants use the HGVS notation, which implies the DNA sequence variant type.

Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be anotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide (SO:0001237 ).

Codified type for associated Amino Acid Change.

A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions (SO:0000704 ). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name (HGNC ).

A human readable name for the region of interest. Typically Exon #, Intron # or other. NOTE: This is not standardized and is mainly for convenience and display purposes.

An allele is one of a set of coexisting sequence variants of a gene (SO:0001023 ). This element is the common name for the allele.

The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA.

A physical quality which inheres to the allele by virtue of the number instances of the allele within a population.

A variation that increases or decreases the copy number of a given region (SO:0001019 ). Values: amplification/deletion/LOH.

Source of sample used to determine the sequence in sequencing lab -- germline, somatic, prenatal.

Chromosomal phase set identifier (UUID/OID). All sequences with the same PhaseSet identifier are asserted to be on the same chromosome (cis).

Refers to the Sequence resource, representing raw genetics data.

Clinical Interpretations for variant. It's a reference to an Observation resource.