GLOSSARY
| Conservation score | The residues are evolutionarily important. Score varies between 0 (less conserved) and 1 (more conserved) |
| Chromosome Number : Genome Position | Mutation at genomic position on a chromosome |
| Database | 1) 1000 Genomes, 2) ClinVar, 3) COSMIC, 4) Humsavar, 5) SwissVar. |
| Disease | Name of the disease, or the disease tissue sample (in the case of COSMIC cancer data) in which mutations have been found. |
| Disease Class | Human disease class as per Kyoto Encyclopedia of Genes and Genomes (KEGG) |
| DNA mutation | Gene level mutation (Eg. TCC → TGC) |
| Domain | Protein domain as per Pfam, in which the given residue is present. List of Domains |
| Function | Function of the protein as given in the UniProt. List of Functions |
| Gene name | Name of the gene that codes for the protein sequence. List of Gene names |
| Mutation Effect | A given mutation is disease-associated or neutral. Disease: Mutation reported as disease-associated. Neutral: Limited or no evidence on the pathogenic role of the mutation. |
| Mutation Type | Types of mutation. Namely, Insertion, Deletion, Missense and Nonsense |
| Neighboring residues | The neighboring residues of the mutation site on both N and C terminals using a window length of 7 |
| Origin | Origin of the mutation whether it is Germline, Somatic or unknown Germline: mutation occurs in a germ cell Somatic: mutation occurs in a somatic cell Unknown: origin unknown |
| PDB ID and 3D view | Protein 3D-structure ID from Protein Data Bank and a link to the JSmol 3D viewer (More about the viewer) |
| Post-translational modification (PTM) | Post-translational modification that is affected by the variant. List of Post-translational modifications |
| Protein mutation | Protein level mutation Eg. Glu (E) → Lys (K) |
| rs ID number | A reference SNP ID number, or 'rs ID', is an identification tag assigned by NCBI to a group (or cluster) of SNPs that map to an identical location. |
| Secondary Structure | Secondary structure of the residue; Helix (H), Turn (T) or Sheet (E). Given secondary structure for a residue is a consensus of secondary structures given in related PDB structures. |
| Subcellular localization | The subcellular location in which the protein resides. List of subcellular localizations |
| UniProt ID | UniProtKB accession number of the protein sequence. List of UniProtKB accession numbers |
| UniProt ID (canonical/isoform) | UniprotKB accession number of the canonical sequence in the case where the mutation matches with the canonical sequence, or the accession number of the isoform sequence if the mutation matches with the isoform sequence. |