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Update MAF column specs since filter-vcf arg is removed
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ckandoth committed Apr 24, 2021
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Showing 1 changed file with 18 additions and 41 deletions.
59 changes: 18 additions & 41 deletions docs/vep_maf_readme.txt
Original file line number Diff line number Diff line change
Expand Up @@ -81,39 +81,21 @@ http://useast.ensembl.org/info/docs/tools/vep/vep_formats.html#output
97. HGVS_OFFSET - Indicates by how many bases the HGVS notations for this variant have been shifted
98. PHENO - Indicates if existing variant is associated with a phenotype, disease or trait
99. MINIMISED - Alleles in this variant have been converted to minimal representation before consequence calculation
100. ExAC_AF - Global Allele Frequency from ExAC
101. ExAC_AF_AFR - African/African American Allele Frequency from ExAC
102. ExAC_AF_AMR - American Allele Frequency from ExAC
103. ExAC_AF_EAS - East Asian Allele Frequency from ExAC
104. ExAC_AF_FIN - Finnish Allele Frequency from ExAC
105. ExAC_AF_NFE - Non-Finnish European Allele Frequency from ExAC
106. ExAC_AF_OTH - Other Allele Frequency from ExAC
107. ExAC_AF_SAS - South Asian Allele Frequency from ExAC
108. GENE_PHENO - Indicates if gene that the variant maps to is associated with a phenotype, disease or trait
109. FILTER - Copied from input MAF/VCF, with ExAC-based common_variant tag added, as explained below
110. flanking_bps - The reference allele per VCF specs, and its 2 flanking base pairs
111. variant_id - The ID from an input VCF, or the variant_id from an input MAF
112. variant_qual - The QUAL from an input VCF, or the variant_qual from an input MAF
113. ExAC_AF_Adj - Global Adjusted Allele frequency from ExAC
114. ExAC_AC_AN_Adj - Global Adjusted Allele Count and Number from ExAC
115. ExAC_AC_AN - Global Allele Count and Number from ExAC
116. ExAC_AC_AN_AFR - African/African American Allele Count and Number from ExAC
117. ExAC_AC_AN_AMR - American Allele Count and Number from ExAC
118. ExAC_AC_AN_EAS - East Asian Allele Count and Number from ExAC
119. ExAC_AC_AN_FIN - Finnish Allele Count and Number from ExAC
120. ExAC_AC_AN_NFE - Non-Finnish European Allele Count and Number from ExAC
121. ExAC_AC_AN_OTH - Other Allele Count and Number from ExAC
122. ExAC_AC_AN_SAS - South Asian Allele Count and Number from ExAC
123. ExAC_FILTER - FILTER tags retrieved from ExAC VCF; PASS means ExAC thinks it's germline
124. gnomAD_AF - Frequency of existing variant in gnomAD exomes combined population
125. gnomAD_AFR_AF - Frequency of existing variant in gnomAD exomes African/American population
126. gnomAD_AMR_AF - Frequency of existing variant in gnomAD exomes American population
127. gnomAD_ASJ_AF - Frequency of existing variant in gnomAD exomes Ashkenazi Jewish population
128. gnomAD_EAS_AF - Frequency of existing variant in gnomAD exomes East Asian population
129. gnomAD_FIN_AF - Frequency of existing variant in gnomAD exomes Finnish population
130. gnomAD_NFE_AF - Frequency of existing variant in gnomAD exomes Non-Finnish European population
131. gnomAD_OTH_AF - Frequency of existing variant in gnomAD exomes combined other combined populations
132. gnomAD_SAS_AF - Frequency of existing variant in gnomAD exomes South Asian population
100. GENE_PHENO - Indicates if gene that the variant maps to is associated with a phenotype, disease or trait
101. FILTER - Copied from input MAF/VCF, with gnomAD-based common_variant tag added, as explained below
102. flanking_bps - The reference allele per VCF specs, and its 2 flanking base pairs
103. variant_id - The ID from an input VCF, or the variant_id from an input MAF
104. variant_qual - The QUAL from an input VCF, or the variant_qual from an input MAF
105. gnomAD_AF - Frequency of existing variant in gnomAD exomes combined population
106. gnomAD_AFR_AF - Frequency of existing variant in gnomAD exomes African/American population
107. gnomAD_AMR_AF - Frequency of existing variant in gnomAD exomes American population
108. gnomAD_ASJ_AF - Frequency of existing variant in gnomAD exomes Ashkenazi Jewish population
109. gnomAD_EAS_AF - Frequency of existing variant in gnomAD exomes East Asian population
110. gnomAD_FIN_AF - Frequency of existing variant in gnomAD exomes Finnish population
111. gnomAD_NFE_AF - Frequency of existing variant in gnomAD exomes Non-Finnish European population
112. gnomAD_OTH_AF - Frequency of existing variant in gnomAD exomes combined other combined populations
113. gnomAD_SAS_AF - Frequency of existing variant in gnomAD exomes South Asian population
114. vcf_pos - Value of POS from input VCF; useful if altered by liftOver or MAF conversion

To distinguish driver mutations from passenger mutations, the most relevant columns are:

Expand All @@ -132,12 +114,7 @@ These are some other columns to help shortlist variants worth looking into:
72. SIFT - the SIFT prediction and/or score, with both given as prediction (score).
73. PolyPhen - the PolyPhen prediction and/or score.
109. FILTER - False-positive filtering status, copied from the input MAF/VCF. An additional filter
named common_variant is also appended, if allele count across at least one ExAC subpopulation
is >10 (this default cutoff can be changed when running vcf2maf). So if you're handling
named common_variant is also appended, if allele frequency across at least one gnomAD subpopulation
is >0.04% (this cutoff can be changed when running vcf2maf or maf2maf). So if you're handling
somatic variants, the common_variant tag means this is likely a false-positive. It is less
likely to be a legit somatic variant at a site that ExAC classifies as germline or artifact.
123. ExAC_FILTER - FILTER tags copied from the ExAC VCF. Differentiates between what ExAC classifies
as germline (tagged as "PASS") or artifact (one or more tags, but not "PASS").
113. ExAC_AF_Adj - Global allele frequency across the ExAC population, adjusted for samples where
this position could be genotyped at high quality. If you're handling germline variants, then
this tells you how common or rare the variant is.
likely to be a legit somatic variant at a site that gnomAD classifies as germline.

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