Schema for dbSNP 155 - dbSNP 155 (lifted)
  Database: hub_567047_hs1    Primary Table: hub_567047_dbSNP155
VCF File Download: /gbdb/hs1/dbSNP155/chm13v2.0_dbSNPv155.vcf.gz
Format description: The fields of a Variant Call Format data line
fielddescription
chromAn identifier from the reference genome
posThe reference position, with the 1st base having position 1
idSemi-colon separated list of unique identifiers where available
refReference base(s)
altComma separated list of alternate non-reference alleles called on at least one of the samples
qualPhred-scaled quality score for the assertion made in ALT. i.e. give -10log_10 prob(call in ALT is wrong)
filterPASS if this position has passed all filters. Otherwise, a semicolon-separated list of codes for filters that fail
infoAdditional information encoded as a semicolon-separated series of short keys with optional comma-separated values
formatIf genotype columns are specified in header, a semicolon-separated list of of short keys starting with GT
genotypesIf genotype columns are specified in header, a tab-separated set of genotype column values; each value is a colon-separated list of values corresponding to keys in the format column

Sample Rows
 
chromposidrefaltqualfilterinfo
chr11rs1553179648C..PASSRS=1553179648;ReverseComplementedAlleles;SSR=0;VC=INDEL;dbSNPBuildID=151
chr11rs1553186440C..PASSRS=1553186440;ReverseComplementedAlleles;SSR=0;VC=MNV;dbSNPBuildID=151
chr11rs1553889595C..PASSGENEINFO=NBPF12:149013;INT;RS=1553889595;ReverseComplementedAlleles;SSR=0;VC=MNV;dbSNPBuildID=137
chr11rs1553925230C..PASSGENEINFO=FMO5:2330|CHD1L:9557;INT;R5;RS=1553925230;ReverseComplementedAlleles;SSR=0;VC=MNV;dbSNPBuildID=146
chr11rs1553298234C..PASSRS=1553298234;ReverseComplementedAlleles;SSR=0;VC=INDEL;dbSNPBuildID=152
chr11rs1553298235C..PASSRS=1553298235;ReverseComplementedAlleles;SSR=0;VC=INDEL;dbSNPBuildID=152
chr11rs782760645C..PASSRS=782760645;ReverseComplementedAlleles;SSR=0;VC=INDEL;dbSNPBuildID=144
chr11rs61624293C..PASSGENEINFO=LINC01138:388685|LOC105371224:105371224;INT;RS=61624293;ReverseComplementedAlleles;SSR=0;VC=INDEL;dbSNPBuildID=129
chr11rs1558309943C..PASSRS=1558309943;ReverseComplementedAlleles;SSR=0;VC=MNV;dbSNPBuildID=152
chr11rs1558319047C..PASSRS=1558319047;ReverseComplementedAlleles;SSR=0;VC=MNV;dbSNPBuildID=152

dbSNP 155 (hub_567047_dbSNP155) Track Description
 

Description

dbSNP build 155 (ftp.ncbi.nih.gov/snp/archive/b155/) was lifted over from GRCh38 to the T2T-CHM13v2.0 assembly. Only variants on the primary assemblies for Chromosomes 1-22, Chromsome X and Chromosome Y were lifted over. This track contains dbSNP variants that lifted over from GRCh38 to the T2T-CHM13 assembly. This includes variants that lifted over perfectly, as well as variants that failed initial liftover due to reference/alternative allele swaps but were recovered on subsequent liftover, with reference and alternative alleles swapped appropriately.

These two sets of variants are included together in this track. If you are interested in downloading these sets separately (i.e., variants that lifted over perfectly vs. recovered variants with ref/alt allele swaps) they can be accessed here: https://s3-us-west-2.amazonaws.com/human-pangenomics/index.html?prefix=T2T/CHM13/assemblies/annotation/liftover/.

Methods

We performed liftover using the GATK release 4.1.9 LiftoverVcf (Picard Version 2.23.3) tool with the default parameters. This successfully lifts over variants that map exactly from GRCh38 to T2T-CHM13v2.0 but does not recover variants with swapped reference and alternative alleles. To recover variants with swapped reference/alternative alleles, we ran LiftoverVCF again, with the RECOVER_SWAPPED_REF_ALT flag. Notably, this feature does not recover multiallelic variants, so to recover these variants, we first separated them into multiple biallelic variants, performed liftover using the RECOVER_SWAPPED_REF_ALT tag, and converted them back to their multiallelic representations.

Contacts

References

Van der Auwera GA & O'Connor BD. (2020). Genomics in the Cloud: Using Docker, GATK, and WDL in Terra (1st Edition). O'Reilly Media.