attribute | type | cardinality | unique | required | doc |
---|
HGVSc | string | one | | | The HGVSc string for this variant, see http://varnomen.hgvs.org/ |
HGVSp | string | many | | | The HGVSp strings for this variant, see http://varnomen.hgvs.org/ |
alt-allele | string | one | | | The alternate allele for this variant |
alt-allele-2 | string | one | | | The 2nd alternate allele for this variant |
alt-amino-acid | string | one | | | The alternate one letter coded amino acid sequence for this variant (ie A, R) |
classification | variant.classification | one | | | The classification of this variant, refers to idents in the 'variant.classification' namespace |
context | string | one | | | The reference allele per VCF specs, and its five flanking base pairs |
cosmic | string | many | | | Overlapping COSMIC variants |
dbSNP | string | many | | | A list of dbSNP (https://www.ncbi.nlm.nih.gov/projects/SNP/) ids for this variant |
exac-af | string | one | | | Global allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
exac-af-adj | float | one | | | Adjusted global allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
exac-afr | float | one | | | African/African-American allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
exac-amr | float | one | | | American allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
exac-eas | float | one | | | East Asian allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
exac-fin | float | one | | | Finnish allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
exac-nfe | float | one | | | Non-Finnish European allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
exac-oth | float | one | | | Other allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
exac-sas | float | one | | | South Asian allele frequency from ExAC, in range [0, 1]. See http://exac.broadinstitute.org/ |
feature-type | variant.feature | one | | | The type of feature (transcript, regulatory, motif), refers to idents in the 'variant.feature.type' namespace |
gene | gene | one | | | The gene for this variant |
genomic-coordinates | genomic-coordinate | one | | | The coordinates of this variant |
id | string | one | yes | | Globally unique id for this variant. This is constructed by joining using '/' the
coordinates, ref-allele and alt-allele |
impact | variant.impact | one | | | The impact modifier for this variant. Refers to entities in the variant.impact namespace |
neo-antigens | neo-antigen | many | | | The list of neo-antigens associated with this variant |
publication | string | many | | | DOI of publication associated with this variant, as a string |
ref-allele | string | one | | | The reference allele for this variant |
ref-amino-acid | string | one | | | The reference one letter coded amino acid sequence for this variant (ie A, R) |
so-consequences | so-sequence-feature | many | | | The functional consequence of the variant, in sequence ontology terms (http://www.sequenceontology.org/).
Refers to so-sequence-feature entities |
type | variant.type | one | | | The type of this variant, refers to idents in the 'variant.type' namespace |