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MalinAhlberg committed Mar 11, 2019
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## Variant types

- Supported and existing in our current Beacon: `INS, DEL, SNP`

- Available from the datasets (although not used by the beacon):
- in the SweGen dataset: `insertion, SNV, deletion, indel, sequence_alteration`
- in the ACpop dataset: `insertion, SNV, deletion`

- What we don't have: `MNP, DUP, BND, INV, CNV, DUP:TANDEM, DEL:ME, INS:ME`

- What we don't know:
- How do `indel` and `sequence_alteration` relate to the Beacon variant types? Do they require multiple tags (eg `indel => del + ins`)?
`rs200774489` is annotated as `sequence_alteration`, but is an insertion according to https://www.ncbi.nlm.nih.gov/snp/rs200774489
- How to communicate which types the datasets support?


## Alternate bases

- Allowed: `(ATCGN)+`. Extra value in our data: `*`.

Should probably be expressed with `N` in the response (`*` is not allowed).
- Example, as given in the Beacon response now:
```"referenceName": "22",
"start": "16060517",
"referenceBases": "T",
"alternateBases": "*",
"variantType": "SNP"
```
In the VCF, this variation is not annotated with `rsid` or `variantType` in the CSQ field.

From the VCF spec:
> The ‘*’ allele is reserved to indicate that the allele is missing due to an overlapping deletion.
Should rather be shown as (?):
```"referenceName": "22",
"start": "16060517",
"referenceBases": "T",
"alternateBases": "N",
"variantType": "DEL"
```

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