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docs/included-plugins/index.md

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@@ -271,11 +271,32 @@ The reference sequence can either be provided directly as a configuration parame
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*See also: [countess-minimap2 plugin](https://github.com/CountESS-Project/countess-minimap2), a variant caller which uses 'minimap2' to find sequences within a genome.*
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#### Parameters
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Input Column
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: the input column with the variant sequence
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Reference
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: (optional) select column which contains the reference sequence ...
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Sequence
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: (optional) ... or supply a reference sequence as a value
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Output Column
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: Column name for HGVS string
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Max Mutations
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: Maximum number of mutations, if no variant with this number or less mutations is found then return a null value for the output
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Drop
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: Drop rows which would have null values for output
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### Variant Classifier
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Takes a column of protein variants and classifies them into types:
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Takes a column of protein variants and classifies them into broad types.
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This is easier than writing the regular expression yourself.
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Short designations:
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#### Short format:
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|---|---|---|
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|format | type | explanation |
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| `A107*` <br/>`A107X` | `N` | Nonsense |
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| `A107-` | `D` | Deletion |
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HGVS Protein designations:
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There is currently no support for insertions in short format.
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Invalid amino acid letters will generate a warning and the type will be set to `?`.
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#### HGVS format:
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|---|---|---|
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| format | type | explanation |
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| `p.=` | `W` | Wild type |
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| `p.Ala107His` | `M` | Missense |
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| `p.Ala107=` | `S` | Synonymous |
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| `p.Ala107Ter` | `N` | Nonsense |
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| `p.Ala107del` | `D` | Deletion |
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| `p.Ala107_Glu108insHis` <br/>`p.Ala107dup` <br/>`p.Ala107_Glu108dup` | `I` | Insertion / Duplication |
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Other variant formats or invalid amino acid codes will generate a warning and the type will be set to `?`.
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There is currently no support for insertions in short designations.
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| `p.Ala107del` <br/>`p.Ala107_His109del` | `D` | Deletion |
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| `p.Ala107dup` <br/>`p.Ala107_Glu108dup` <br/>`p.Ala107_Glu108insHis` | `I` | Insertion / Duplication |
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#### Parameters
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Input Column
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: the input column with the variant sequence
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Invalid amino acid codes will generate a warning and the type will be set to `?`.
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Other issues such as invalid locations will not necessarily be detected.
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More complicated scenarios, like `delins` and multiple changes, are not currently supported.
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Reference
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: (optional) select column which contains the reference sequence ...
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#### Unrecognized Formats
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Sequence
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: (optional) ... or supply a reference sequence as a value
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Output Column
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: Column name for HGVS string
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Max Mutations
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: Maximum number of mutations, if no variant with this number or less mutations is found then return a null value for the output
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Drop
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: Drop rows which would have null values for output
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Other variant formats will generate a warning and the type will be set to `?`.

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