Annotation Configuration

Annotation config files follow the INI file format and specify a list of annotators and their options in the form of sections and properties. The annotation.conf file which can be found in the data repository is the default annotation config.

Each annotator is described in a single section. The name of the section must be unique, but since it does not influence the annotation process, it can be chosen freely. Lines starting with # are ignored.

All annotators are configured in a similar manner, using three main properties - annotator, options and columns. annotator has a single value, but the other two properties have sub-properties separated with a ..


annotator = {annotator python file name}.{annotator class name}

This property indicates the type of the annotator.

Value Description
annotator_base.CopyAnnotator Duplicates the given columns.
cleanup_annotator.CleanupAnnotator Removes the given columns from the output file.
dbnsfp_annotator.dbNSFPAnnotator Annotate variants using scores from dbNSFP.
effect_annotator.VariantEffectAnnotator Annotate variants with their effects.
frequency_annotator.FrequencyAnnotator Annotate variants with a frequency score.
score_annotator.PositionScoreAnnotator Annotate variants with a score file by the position/location of the variant.
score_annotator.PositionMultiScoreAnnotator Identical in function to PositionScoreAnnotator, but uses a directory with multiple score files.
score_annotator.NPScoreAnnotator Annotate variants with a score file by the location and the type of the variant.
lift_over_annotator.LiftOverAnnotator Create a column with the variant’s location lifted over.
vcf_info_extractor.VCFInfoExtractor Extract key-value pairs from a VCF file’s INFO column as separate columns.


options.{option name} = value

These are custom options that will be passed to the annotator. Each annotator provides different options that can be set.

Option Used by Description
scores_file Variant annotators The absolute path to the score file.
scores_config_file Variant annotators The absolute path to the score configuration file.
scores_directory PositionMultiScoreAnnotator The absolute path to the directory containing the score files and their configs.
dbNSFP_path dbNSFPAnnotator The absolute path to the directory holding dbNSFP files, separated by chromosome.
dbNSFP_filename dbNSFPAnnotator A glob-like pattern of the generic dbNSFP file’s name (e.g. dbNSFP_chr*).
dbNSFP_config dbNSFPAnnotator The name (not absolute path) of the score config inside the dbNSFP directory.
Graw VariantEffectAnnotator The absolute path to the genome file.
Traw VariantEffectAnnotator The absolute path to the gene models file.
chain_file LiftOverAnnotator The absolute path to the liftover chain to be used.


columns.{raw/original column name} = {output column name}

This option simultaneously describes which columns must be added to the output file and what their name will be. The pool of available columns is determined by the annotator - for example, a copy annotator’s pool of available columns is the input file’s own columns, while an annotator that uses a score file will have the score file’s columns available.

The following are some special cases, used by certain annotators.

Columns Used by Description
columns.cleanup CleanupAnnotator Comma-separated list of columns to remove.
columns.* CopyAnnotator The pool of available columns are all columns in the input file.
columns.* VCFInfoExtractor The pool of available columns are all keys in the INFO column.