| File Path | Source |
|---|---|
nallo/annotation/grch38_clinvar_rename_chromosomes_-v1.0-.txt |
Manually created |
nallo/annotation/grch38_echtvar_cadd_snvs_config_-v1.0-.json |
Modified from cadd.json |
nallo/annotation/grch38_echtvar_colorsdb_snvs_config_-v1.0-.json |
Manually created |
nallo/annotation/grch38_echtvar_resources_stage_-v1.0-.csv |
Manually created |
nallo/annotation/grch38_reduced_penetrance_-v1.0-.tsv |
Modified from reduced_penetrance.tsv to hg38 coordinates, should be checked. |
nallo/annotation/grch38_trgt_pathogenic_repeats_-v1.0-.txt |
Downloaded from pathogenic_repeats.hg38.bed |
nallo/annotation/grch38_variant_consequences_-v1.0-.txt |
Same as variantconsequences_snv-v1.0-.txt |
nallo/annotation/grch38_vep_112_loftool_scores_-v1.0-.txt |
Downloaded from LoFtool_scores.txt |
nallo/annotation/grch38_vep_112_pli_values_-v1.0-.txt |
Downloaded from pLI_values.txt |
nallo/annotation/grch38_vep_resources_stage_-v1.0-.csv |
Manually created |
nallo/annotation/sites.hg38.vcf.gz |
Downloaded from sites.hg38.vcf.gz, same as hg38.somalier.sites.vcf.gz |
nallo/rank_model/grch38_rank_model_snvs_-v1.0-.ini |
Manually created |
nallo/rank_model/grch38_rank_model_svs_-v1.0-.ini |
Manually created |
nallo/region/grch38_chromosomes_split_at_centromeres_-v1.0-.bed |
Manually created |
nallo/region/grch38_hificnv_excluded_regions_common_50_-v1.0-.bed.gz |
Downloaded from cnv.excluded_regions.common_50.hg38.bed.gz |
nallo/region/grch38_hificnv_expected_copynumer_xx_-v1.0-.bed |
Downloaded from expected_cn.hg38.XX.bed |
nallo/region/grch38_hificnv_expected_copynumer_xy_-v1.0-.bed |
Downloaded from expected_cn.hg38.XY.bed |
nallo/region/grch38_par_-v1.0-.bed |
Downloaded from GRCh38_PAR.bed |