diff --git a/Cargo.lock b/Cargo.lock index 1853caba..9a5384b2 100644 --- a/Cargo.lock +++ b/Cargo.lock @@ -1456,6 +1456,12 @@ version = "2.1.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "9a3a5bfb195931eeb336b2a7b4d761daec841b97f947d34394601737a7bba5e4" +[[package]] +name = "hxdmp" +version = "0.2.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "a17b27f28a7466846baca75f0a5244e546e44178eb7f1c07a3820f413e91c6b0" + [[package]] name = "iana-time-zone" version = "0.1.57" @@ -3436,12 +3442,14 @@ dependencies = [ "flate2", "float-cmp", "hgvs", + "hxdmp", "indexmap 2.0.2", "insta", "itertools", "log", "mehari", "multimap 0.9.0", + "noodles-bgzf", "noodles-vcf", "pretty_assertions", "procfs", diff --git a/Cargo.toml b/Cargo.toml index af2f08ee..7572b6a6 100644 --- a/Cargo.toml +++ b/Cargo.toml @@ -49,6 +49,7 @@ tracing-subscriber = "0.3" uuid = { version = "1.4", features = ["v4", "fast-rng", "serde"] } noodles-vcf = "0.40.0" rocksdb = { version = "0.21.0", features = ["multi-threaded-cf"] } +noodles-bgzf = "0.24.0" [build-dependencies] @@ -57,6 +58,7 @@ prost-build = "0.12" [dev-dependencies] file_diff = "1.0" float-cmp = "0.9.0" +hxdmp = "0.2.1" insta = { version = "1.32", features = ["yaml"] } pretty_assertions = "1.4" rstest = "0.18.2" diff --git a/README.md b/README.md index 9f2a33a2..992fa3dd 100644 --- a/README.md +++ b/README.md @@ -80,9 +80,7 @@ The command interprets the following fields which are written out by the commonl - `FORMAT/GQ` -- genotype quality - `FORMAT/DP` -- total read coverage - `FORMAT/AD` -- allelic depth, one value per allele (including reference0) -- `FORMAT/PID` -- physical phasing information as written out by GATK HaplotypeCaller in GVCF workflow -- `FORMAT/PS` -- physical phasing information as written out by Dragen variant caller - - this field fill be written as `FORMAT/PID` +- `FORMAT/PS` -- physical phasing information as written out by GATK HaplotypeCaller in GVCF workflow and Dragen variant caller - `FORMAT/SQ` -- "somatic quality" for each alternate allele, as written out by Illumina Dragen variant caller - this field will be written as `FORMAT/GQ` diff --git a/src/seqvars/ingest/header.rs b/src/seqvars/ingest/header.rs index 0a658ab4..ac857839 100644 --- a/src/seqvars/ingest/header.rs +++ b/src/seqvars/ingest/header.rs @@ -184,7 +184,6 @@ pub fn build_output_header( genomebuild: GenomeRelease, worker_version: &str, ) -> Result { - use vcf::header::record::value::map::format::Type as FormatType; use vcf::header::record::value::{ map::{info::Type, Filter, Format, Info}, Map, @@ -300,17 +299,7 @@ pub fn build_output_header( Map::::from(&key::CONDITIONAL_GENOTYPE_QUALITY), ) .add_format(key::GENOTYPE, Map::::from(&key::GENOTYPE)) - .add_format( - "PID".parse()?, - Map::::builder() - .set_number(Number::Count(1)) - .set_type(FormatType::String) - .set_description( - "Physical phasing ID information, where each unique ID within a given sample \ - (but not across samples) connects records within a phasing group", - ) - .build()?, - ); + .add_format(key::PHASE_SET, Map::::from(&key::PHASE_SET)); let mut builder = match genomebuild { GenomeRelease::Grch37 => add_contigs_37(builder), diff --git a/src/seqvars/ingest/mod.rs b/src/seqvars/ingest/mod.rs index 133e1cac..3b4521d0 100644 --- a/src/seqvars/ingest/mod.rs +++ b/src/seqvars/ingest/mod.rs @@ -2,7 +2,7 @@ use std::sync::{Arc, OnceLock}; -use crate::common::{self, GenomeRelease}; +use crate::common::{self, open_read_maybe_gz, open_write_maybe_gz, GenomeRelease}; use mehari::annotate::seqvars::provider::MehariProvider; use noodles_vcf as vcf; use thousands::Separable; @@ -73,27 +73,20 @@ impl Default for KnownFormatKeys { vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY, // GQ vcf::record::genotypes::keys::key::READ_DEPTH, // DP vcf::record::genotypes::keys::key::READ_DEPTHS, // AD - "PID".parse().expect("invalid key: PID"), + vcf::record::genotypes::keys::key::PHASE_SET, // PS ], known_keys: vec![ vcf::record::genotypes::keys::key::GENOTYPE, vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY, vcf::record::genotypes::keys::key::READ_DEPTH, vcf::record::genotypes::keys::key::READ_DEPTHS, - "PID".parse().expect("invalid key: PID"), - "PS".parse().expect("invalid key: PS"), // written as PID - "SQ".parse().expect("invalid key: SQ"), // written as AD + vcf::record::genotypes::keys::key::PHASE_SET, // PS + "SQ".parse().expect("invalid key: SQ"), // written as AD ], - known_to_output_map: vec![ - ( - "PS".parse().expect("invalid key: PS"), - "PID".parse().expect("invalid key: PID"), - ), - ( - "SQ".parse().expect("invalid key: SQ"), - vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY, - ), - ] + known_to_output_map: vec![( + "SQ".parse().expect("invalid key: SQ"), + vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY, + )] .into_iter() .collect(), } @@ -132,15 +125,6 @@ fn transform_format_value( _ => return None, // unreachable!("FORMAT/AD must be array of integer"), } } - "PS" => { - // PS is written as PID. - match *value { - vcf::record::genotypes::sample::Value::Integer(ps_value) => { - vcf::record::genotypes::sample::Value::String(format!("{}", ps_value)) - } - _ => return None, // unreachable!("FORMAT/PS must be integer"), - } - } "SQ" => { // SQ is written as AD. match *value { @@ -218,13 +202,17 @@ fn copy_format( } /// Process the variants from `input_reader` to `output_writer`. -fn process_variants( - output_writer: &mut vcf::Writer>, - input_reader: &mut vcf::Reader>, +fn process_variants( + output_writer: &mut vcf::Writer, + input_reader: &mut vcf::Reader, output_header: &vcf::Header, input_header: &vcf::Header, args: &Args, -) -> Result<(), anyhow::Error> { +) -> Result<(), anyhow::Error> +where + R: std::io::BufRead, + W: std::io::Write, +{ // Open the frequency RocksDB database in read only mode. tracing::info!("Opening frequency database"); let rocksdb_path = format!( @@ -323,8 +311,7 @@ fn process_variants( let mut output_record = builder.build()?; // Obtain annonars variant key from current allele for RocksDB lookup. - let vcf_var = - annonars::common::keys::Var::from_vcf_allele(&output_record, allele_no); + let vcf_var = annonars::common::keys::Var::from_vcf_allele(&output_record, 0); // Skip records with a deletion as alternative allele. if vcf_var.alternative == "*" { @@ -449,11 +436,8 @@ pub fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), anyhow: tracing::info!("opening input file..."); let mut input_reader = { - let file = std::fs::File::open(&args.path_in) - .map_err(|e| anyhow::anyhow!("could not open input file {}: {}", &args.path_in, e)) - .map(std::io::BufReader::new)?; vcf::reader::Builder - .build_from_reader(file) + .build_from_reader(open_read_maybe_gz(&args.path_in)?) .map_err(|e| anyhow::anyhow!("could not build VCF reader: {}", e))? }; @@ -469,17 +453,7 @@ pub fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), anyhow: ) .map_err(|e| anyhow::anyhow!("problem building output header: {}", e))?; - let mut output_writer = { - let writer = std::fs::File::create(&args.path_out).map_err(|e| { - anyhow::anyhow!( - "could not output file for writing {}: {}", - &args.path_out, - e - ) - })?; - let writer = std::io::BufWriter::new(writer); - vcf::writer::Writer::new(writer) - }; + let mut output_writer = { vcf::writer::Writer::new(open_write_maybe_gz(&args.path_out)?) }; output_writer .write_header(&output_header) .map_err(|e| anyhow::anyhow!("problem writing header: {}", e))?; @@ -501,6 +475,8 @@ pub fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), anyhow: #[cfg(test)] mod test { + use std::io::Read; + use rstest::rstest; use crate::common::GenomeRelease; @@ -544,4 +520,44 @@ mod test { Ok(()) } + + fn read_to_bytes

(path: P) -> Result, anyhow::Error> + where + P: AsRef, + { + let mut f = std::fs::File::open(&path).expect("no file found"); + let metadata = std::fs::metadata(&path).expect("unable to read metadata"); + let mut buffer = vec![0; metadata.len() as usize]; + f.read(&mut buffer).expect("buffer overflow"); + Ok(buffer) + } + + #[test] + fn result_snapshot_test_gz() -> Result<(), anyhow::Error> { + let tmpdir = temp_testdir::TempDir::default(); + + let path_in: String = "tests/seqvars/ingest/NA12878_dragen.vcf.gz".into(); + let path_ped = path_in.replace(".vcf.gz", ".ped"); + let path_out = tmpdir + .join("out.vcf.gz") + .to_str() + .expect("invalid path") + .into(); + let args_common = Default::default(); + let args = super::Args { + max_var_count: None, + path_mehari_db: "tests/seqvars/ingest/db".into(), + path_ped, + genomebuild: GenomeRelease::Grch37, + path_in, + path_out, + }; + super::run(&args_common, &args)?; + + let mut buffer = Vec::new(); + hxdmp::hexdump(&read_to_bytes(&args.path_out)?, &mut buffer)?; + insta::assert_snapshot!(String::from_utf8_lossy(&buffer)); + + Ok(()) + } } diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_dragen.07.021.624.3.10.4.vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_dragen.07.021.624.3.10.4.vcf.snap index 64a8c516..bd8cddd1 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_dragen.07.021.624.3.10.4.vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_dragen.07.021.624.3.10.4.vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(out_path_str)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_dragen.07.021.624.3.10.9.vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_dragen.07.021.624.3.10.9.vcf.snap index 504e97b8..0ac20822 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_dragen.07.021.624.3.10.9.vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_dragen.07.021.624.3.10.9.vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(out_path_str)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_gatk_hc.3.7-0.vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_gatk_hc.3.7-0.vcf.snap index 606973d1..6db95979 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_gatk_hc.3.7-0.vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_gatk_hc.3.7-0.vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(out_path_str)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_gatk_hc.4.4.0.0.vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_gatk_hc.4.4.0.0.vcf.snap index e75108df..cb817ee3 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_gatk_hc.4.4.0.0.vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_37@example_gatk_hc.4.4.0.0.vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(out_path_str)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_dragen.07.021.624.3.10.4.vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_dragen.07.021.624.3.10.4.vcf.snap index 04ab2618..4cf1ccfd 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_dragen.07.021.624.3.10.4.vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_dragen.07.021.624.3.10.4.vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(out_path_str)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_dragen.07.021.624.3.10.9.vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_dragen.07.021.624.3.10.9.vcf.snap index ffb1a8fa..54721644 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_dragen.07.021.624.3.10.9.vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_dragen.07.021.624.3.10.9.vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(out_path_str)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_gatk_hc.3.7-0.vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_gatk_hc.3.7-0.vcf.snap index 98f14248..e1a92636 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_gatk_hc.3.7-0.vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_gatk_hc.3.7-0.vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(out_path_str)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_gatk_hc.4.4.0.0.vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_gatk_hc.4.4.0.0.vcf.snap index 76a3c2f3..6944a30d 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_gatk_hc.4.4.0.0.vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__header__test__build_output_header_38@example_gatk_hc.4.4.0.0.vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(out_path_str)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@Case_1_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@Case_1_vcf.snap new file mode 100644 index 00000000..a79c8c31 --- /dev/null +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@Case_1_vcf.snap @@ -0,0 +1,121 @@ +--- +source: src/seqvars/ingest/mod.rs +expression: "std::fs::read_to_string(&args.path_out)?" +--- +##fileformat=VCFv4.4 +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##FILTER= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##SAMPLE= +##SAMPLE= +##SAMPLE= +##PEDIGREE= +##PEDIGREE= +##PEDIGREE= +##x-varfish-version= +##x-varfish-version= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 +17 41249263 . G A . . gnomad_exomes_an=31398;gnomad_exomes_hom=0;gnomad_exomes_het=56;gnomad_genomes_an=251304;gnomad_genomes_hom=0;gnomad_genomes_het=369;clinvar_clinsig=benign;clinvar_rcv=RCV001353617;ANN=A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|8/23|c.591C>T|p.C197=|704/7088|591/5592|197/1864|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/22|c.450C>T|p.C150=|644/7028|450/5451|150/1817|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/22|c.591C>T|p.C197=|698/3696|591/2100|197/700|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/24|c.591C>T|p.C197=|704/7151|591/5655|197/1885|44| GT:AD:DP:GQ 0/0:52:52:99 0/0:46:46:99 0/1:21:42:99 +17 41252332 . T C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-435A>G|p.?|555/7088|442/5592||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-435A>G|p.?|495/7028|301/5451||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-435A>G|p.?|549/3696|442/2100||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-435A>G|p.?|555/7151|442/5655||-434| GT:AD:DP:GQ 0/0:25:25:75 0/1:14:28:99 0/1:19:40:99 +17 41252691 . ATATAAT A . . gnomad_exomes_an=2368;gnomad_exomes_hom=10;gnomad_exomes_het=80;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-795delATTATA|p.?|555/7088|442/5592||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-795delATTATA|p.?|495/7028|301/5451||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-795delATTATA|p.?|549/3696|442/2100||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-795delATTATA|p.?|555/7151|442/5655||-794| GT:AD:DP:GQ 0/0:9:9:27 0/1:4:14:99 0/1:12:23:99 +17 41252693 . ATAAT A . . gnomad_exomes_an=3866;gnomad_exomes_hom=244;gnomad_exomes_het=618;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-797delATTA|p.?|555/7088|442/5592||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-797delATTA|p.?|495/7028|301/5451||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-797delATTA|p.?|549/3696|442/2100||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-797delATTA|p.?|555/7151|442/5655||-796| GT:AD:DP:GQ 0/0:9:9:27 0/0:14:14:42 0/1:11:22:99 +17 41252695 . AAT A . . gnomad_exomes_an=5066;gnomad_exomes_hom=546;gnomad_exomes_het=795;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-799delAT|p.?|555/7088|442/5592||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-799delAT|p.?|495/7028|301/5451||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-799delAT|p.?|549/3696|442/2100||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-799delAT|p.?|555/7151|442/5655||-798| GT:AD:DP:GQ 0/1:3:9:79 0/0:14:14:42 0/0:22:22:66 +17 41252696 . A T . . gnomad_exomes_an=4200;gnomad_exomes_hom=29;gnomad_exomes_het=334;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-799T>A|p.?|555/7088|442/5592||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-799T>A|p.?|495/7028|301/5451||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-799T>A|p.?|549/3696|442/2100||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-799T>A|p.?|555/7151|442/5655||-798| GT:AD:DP:GQ 0/1:6:9:78 0/1:10:14:98 0/0:22:22:67 +17 41252697 . A AT . . ANN=AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-801_442-800insA|p.?|555/7088|442/5592||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insA|p.?|495/7028|301/5451||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insA|p.?|549/3696|442/2100||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insA|p.?|555/7151|442/5655||-800| GT:AD:DP:GQ 1/1:0:45:99 1/2:0:33:99 1/2:1:33:99 +17 41252697 . A ATT . . ANN=ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-801_442-800insAA|p.?|555/7088|442/5592||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insAA|p.?|495/7028|301/5451||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insAA|p.?|549/3696|442/2100||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insAA|p.?|555/7151|442/5655||-800| GT:AD:DP:GQ 1/1:45:45:99 1/2:17:33:99 1/2:11:33:99 +17 41254393 . G T . . gnomad_exomes_an=1936;gnomad_exomes_hom=0;gnomad_exomes_het=167;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1746C>A|p.?|554/7088|441/5592||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1746C>A|p.?|494/7028|300/5451||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1746C>A|p.?|548/3696|441/2100||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1746C>A|p.?|554/7151|441/5655||1745| GT:AD:DP:GQ 0/1:29:37:66 ./.:.:.:. 0/0:32:35:47 +17 41273700 . C CA . . ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.80+2333_80+2334insT|p.?|193/7088|80/5592||2333|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2333_-8+2334insT|p.?|187/7028|-8/5451||2333|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2333_80+2334insT|p.?|187/3696|80/2100||2333|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2333_80+2334insT|p.?|193/7151|80/5655||2333| GT:AD:DP:GQ 0/0:14:14:42 0/0:6:7:10 0/1:5:10:65 +MT 73 . A G . . . GT:AD:DP:GQ 0/0:3975:3975:99 1/1:0:2871:99 1/1:0:3320:99 +MT 119 . T C . . . GT:AD:DP:GQ 0/0:5417:5418:99 1/1:0:4039:99 1/1:1:4113:99 +MT 189 . A G . . . GT:AD:DP:GQ 0/0:3069:3069:99 1/1:0:1721:99 1/1:0:2204:99 +MT 195 . T C . . . GT:AD:DP:GQ 0/0:2599:2599:99 1/1:0:1592:99 1/1:0:1815:99 +MT 204 . T C . . . GT:AD:DP:GQ 0/0:2180:2180:99 1/1:0:1424:99 1/1:0:1304:99 +MT 207 . G A . . . GT:AD:DP:GQ 0/0:2115:2115:99 1/1:0:1408:99 1/1:0:1277:99 +MT 263 . A G . . . GT:AD:DP:GQ 1/1:0:1288:99 1/1:0:1204:99 1/1:0:1031:99 +MT 302 . A ACC . . . GT:AD:DP:GQ 0/1:157:844:99 0/0:1005:1011:99 0/0:800:803:99 +MT 310 . T TC . . . GT:AD:DP:GQ 1/1:0:1035:99 1/1:0:1411:99 1/1:1:1091:99 +MT 477 . T C . . . GT:AD:DP:GQ 1/1:4:2133:99 0/0:2266:2267:99 0/0:1725:1725:99 +MT 709 . G A . . . GT:AD:DP:GQ 0/0:2494:2494:99 1/1:0:2186:99 1/1:1:1814:99 +MT 750 . A G . . . GT:AD:DP:GQ 1/1:0:2757:99 1/1:0:2392:99 1/1:0:1621:99 +MT 879 . T C . . . GT:AD:DP:GQ 0/0:2853:2853:99 0/0:2784:2784:99 0/1:1351:1898:99 +MT 1243 . T C . . . GT:AD:DP:GQ 0/0:2674:2675:99 1/1:0:2198:99 1/1:0:1655:99 +MT 1438 . A G . . . GT:AD:DP:GQ 1/1:0:3815:99 1/1:0:3653:99 1/1:0:2900:99 +MT 1824 . T C . . . GT:AD:DP:GQ 1/1:0:2668:99 0/0:2409:2409:99 0/0:1752:1752:99 +MT 2633 . A G . . . GT:AD:DP:GQ 0/0:2535:2535:99 0/1:1648:2409:99 0/0:2269:2269:99 +MT 2706 . A G . . . GT:AD:DP:GQ 0/0:3200:3200:99 1/1:0:2847:99 1/1:0:2020:99 +MT 3010 . G A . . . GT:AD:DP:GQ 1/1:0:2841:99 0/0:2385:2385:99 0/0:1685:1685:99 +MT 3505 . A G . . . GT:AD:DP:GQ 0/0:2580:2594:99 1/1:0:2363:99 1/1:0:1664:99 +MT 3784 . T C . . . GT:AD:DP:GQ 0/1:480:2936:99 0/0:2504:2504:99 0/0:1991:1991:99 +MT 4769 . A G . . . GT:AD:DP:GQ 1/1:0:2689:99 1/1:0:2549:99 1/1:0:2108:99 +MT 5046 . G A . . . GT:AD:DP:GQ 0/0:2876:2878:99 1/1:0:2466:99 1/1:0:1661:99 +MT 5460 . G A . . . GT:AD:DP:GQ 0/0:2905:2907:99 1/1:0:2759:99 1/1:2:1970:99 +MT 7028 . C T . . . GT:AD:DP:GQ 0/0:2577:2580:99 1/1:2:2203:99 1/1:1:1946:99 +MT 7864 . C T . . . GT:AD:DP:GQ 0/0:3588:3589:99 1/1:0:3465:99 1/1:0:2746:99 +MT 8170 . A G . . . GT:AD:DP:GQ 0/0:2051:2052:99 1/1:0:2257:99 1/1:0:1774:99 +MT 8251 . G A . . . GT:AD:DP:GQ 0/0:2360:2360:99 1/1:0:2317:99 1/1:1:1625:99 +MT 8860 . A G . . . GT:AD:DP:GQ 1/1:0:3278:99 1/1:0:3088:99 1/1:0:2241:99 +MT 8994 . G A . . . GT:AD:DP:GQ 0/0:2793:2793:99 1/1:0:2368:99 1/1:1:1918:99 +MT 9007 . A G . . . GT:AD:DP:GQ 1/1:0:2959:99 0/0:2442:2442:99 0/0:1735:1735:99 +MT 9150 . A G . . . GT:AD:DP:GQ 1/1:0:3163:99 0/0:3538:3538:99 0/0:2767:2767:99 +MT 9380 . G A . . . GT:AD:DP:GQ 1/1:1:3321:99 0/0:3222:3222:99 0/0:2547:2547:99 +MT 10097 . A G . . . GT:AD:DP:GQ 0/0:2660:2660:99 0/1:1680:2188:99 0/0:1851:1851:99 +MT 11204 . T C . . . GT:AD:DP:GQ 0/0:3168:3173:99 1/1:0:2922:99 1/1:0:2418:99 +MT 11674 . C T . . . GT:AD:DP:GQ 0/0:2890:2890:99 1/1:0:2666:99 1/1:1:2180:99 +MT 11719 . G A . . . GT:AD:DP:GQ 0/0:3339:3341:99 1/1:0:3052:99 1/1:0:2203:99 +MT 11947 . A G . . . GT:AD:DP:GQ 0/0:2579:2581:99 1/1:0:2273:99 1/1:0:1804:99 +MT 12414 . T C . . . GT:AD:DP:GQ 0/0:2852:2855:99 1/1:1:2546:99 1/1:0:1733:99 +MT 12648 . A G . . . GT:AD:DP:GQ 0/0:1812:1813:99 1/1:2:1664:99 1/1:4:1781:99 +MT 12705 . C T . . . GT:AD:DP:GQ 0/0:2359:2369:99 1/1:1:2138:99 1/1:1:1622:99 +MT 13406 . G A . . . GT:AD:DP:GQ 0/0:2539:2540:99 0/0:2216:2216:99 0/1:1224:1957:99 +MT 13611 . A G . . . GT:AD:DP:GQ 0/0:3838:3840:99 1/1:0:3717:99 1/1:1:2835:99 +MT 13928 . G C . . . GT:AD:DP:GQ 0/0:2947:2947:99 1/1:0:2700:99 1/1:0:1880:99 +MT 14148 . A G . . . GT:AD:DP:GQ 0/0:3019:3021:99 1/1:0:2820:99 1/1:0:1962:99 +MT 14766 . C T . . . GT:AD:DP:GQ 0/0:3318:3321:99 1/1:2:3113:99 1/1:3:2358:99 +MT 15326 . A G . . . GT:AD:DP:GQ 1/1:0:3716:99 1/1:0:3560:99 1/1:0:2690:99 +MT 15884 . G C . . . GT:AD:DP:GQ 0/0:3595:3596:99 1/1:0:3167:99 1/1:1:2734:99 +MT 16184 . C T . . . GT:AD:DP:GQ 0/0:1406:1407:99 1/1:0:1969:99 1/1:0:1478:99 +MT 16223 . C T . . . GT:AD:DP:GQ 0/0:1405:1406:99 1/1:0:2018:99 1/1:0:1472:99 +MT 16263 . T C . . . GT:AD:DP:GQ 1/1:2:1478:99 0/0:1994:1994:99 0/0:1475:1475:99 +MT 16292 . C T . . . GT:AD:DP:GQ 0/0:1652:1652:99 1/1:1:1914:99 1/1:0:1476:99 +MT 16519 . T C . . . GT:AD:DP:GQ 1/1:0:1759:99 1/1:0:4094:99 1/1:0:1744:99 + diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@NA12878_dragen_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@NA12878_dragen_vcf.snap index dff16473..83cde40d 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@NA12878_dragen_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@NA12878_dragen_vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= @@ -69,17 +69,17 @@ expression: "std::fs::read_to_string(&args.path_out)?" 17 41250923 . T C . . gnomad_exomes_an=29782;gnomad_exomes_hom=4187;gnomad_exomes_het=6234;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191405;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|7/22|c.547+869A>G|p.?|660/7088|547/5592||868|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+869A>G|p.?|600/7028|406/5451||868|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+869A>G|p.?|654/3696|547/2100||868|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+869A>G|p.?|660/7151|547/5655||868| GT:AD:DP:GQ 0/1:13:22:47 17 41251495 . C G . . gnomad_exomes_an=30850;gnomad_exomes_hom=1491;gnomad_exomes_het=6363;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV001640278;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|7/22|c.547+297G>C|p.?|660/7088|547/5592||296|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+297G>C|p.?|600/7028|406/5451||296|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+297G>C|p.?|654/3696|547/2100||296|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+297G>C|p.?|660/7151|547/5655||296| GT:AD:DP:GQ 0/1:11:26:48 17 41251646 . T A . . gnomad_exomes_an=31294;gnomad_exomes_hom=1592;gnomad_exomes_het=6693;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV002345409;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|7/22|c.547+146A>T|p.?|660/7088|547/5592||145|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+146A>T|p.?|600/7028|406/5451||145|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+146A>T|p.?|654/3696|547/2100||145|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+146A>T|p.?|660/7151|547/5655||145| GT:AD:DP:GQ 0/1:11:19:48 -17 41252575 . G A . . gnomad_exomes_an=6888;gnomad_exomes_hom=193;gnomad_exomes_het=1277;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191411;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-678C>T|p.?|555/7088|442/5592||-677|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-678C>T|p.?|495/7028|301/5451||-677|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-678C>T|p.?|549/3696|442/2100||-677|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-678C>T|p.?|555/7151|442/5655||-677| GT:AD:DP:GQ:PID 1|1:0:3:5:41252575 -17 41252591 . C CAT . . gnomad_exomes_an=10332;gnomad_exomes_hom=95;gnomad_exomes_het=571;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-695_442-694insAT|p.?|555/7088|442/5592||-694|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-695_301-694insAT|p.?|495/7028|301/5451||-694|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-695_442-694insAT|p.?|549/3696|442/2100||-694|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-695_442-694insAT|p.?|555/7151|442/5655||-694| GT:AD:DP:GQ:PID 1|1:0:2:4:41252575 +17 41252575 . G A . . gnomad_exomes_an=6888;gnomad_exomes_hom=193;gnomad_exomes_het=1277;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191411;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-678C>T|p.?|555/7088|442/5592||-677|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-678C>T|p.?|495/7028|301/5451||-677|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-678C>T|p.?|549/3696|442/2100||-677|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-678C>T|p.?|555/7151|442/5655||-677| GT:AD:DP:GQ:PS 1|1:0:3:5:41252575 +17 41252591 . C CAT . . gnomad_exomes_an=10332;gnomad_exomes_hom=95;gnomad_exomes_het=571;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-695_442-694insAT|p.?|555/7088|442/5592||-694|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-695_301-694insAT|p.?|495/7028|301/5451||-694|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-695_442-694insAT|p.?|549/3696|442/2100||-694|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-695_442-694insAT|p.?|555/7151|442/5655||-694| GT:AD:DP:GQ:PS 1|1:0:2:4:41252575 17 41254174 . A G . . gnomad_exomes_an=30142;gnomad_exomes_hom=1576;gnomad_exomes_het=6550;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191423;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1965T>C|p.?|554/7088|441/5592||1964|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1965T>C|p.?|494/7028|300/5451||1964|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1965T>C|p.?|548/3696|441/2100||1964|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1965T>C|p.?|554/7151|441/5655||1964| GT:AD:DP:GQ 0/1:14:27:48 17 41254374 . C CTTTTTTTT . . gnomad_exomes_an=15994;gnomad_exomes_hom=494;gnomad_exomes_het=1743;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1764_441+1765insAAAAAAAA|p.?|554/7088|441/5592||1764|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1764_300+1765insAAAAAAAA|p.?|494/7028|300/5451||1764|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1764_441+1765insAAAAAAAA|p.?|548/3696|441/2100||1764|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1764_441+1765insAAAAAAAA|p.?|554/7151|441/5655||1764| GT:AD:DP:GQ 0/1:6:13:48 17 41254405 . C T . . gnomad_exomes_an=24316;gnomad_exomes_hom=1000;gnomad_exomes_het=4795;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000256092;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1734G>A|p.?|554/7088|441/5592||1733|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1734G>A|p.?|494/7028|300/5451||1733|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1734G>A|p.?|548/3696|441/2100||1733|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1734G>A|p.?|554/7151|441/5655||1733| GT:AD:DP:GQ 0/1:5:14:43 17 41254486 . T G . . gnomad_exomes_an=30560;gnomad_exomes_hom=4284;gnomad_exomes_het=6345;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191424;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1653A>C|p.?|554/7088|441/5592||1652|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1653A>C|p.?|494/7028|300/5451||1652|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1653A>C|p.?|548/3696|441/2100||1652|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1653A>C|p.?|554/7151|441/5655||1652| GT:AD:DP:GQ 0/1:8:23:46 17 41254965 . C CT . . gnomad_exomes_an=26726;gnomad_exomes_hom=2359;gnomad_exomes_het=6380;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255713;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1173_441+1174insA|p.?|554/7088|441/5592||1173|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1173_300+1174insA|p.?|494/7028|300/5451||1173|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1173_441+1174insA|p.?|548/3696|441/2100||1173|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1173_441+1174insA|p.?|554/7151|441/5655||1173| GT:AD:DP:GQ 0/1:14:22:22 -17 41255102 . A G . . gnomad_exomes_an=31104;gnomad_exomes_hom=1426;gnomad_exomes_het=6400;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191428;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1037T>C|p.?|554/7088|441/5592||1036|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1037T>C|p.?|494/7028|300/5451||1036|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1037T>C|p.?|548/3696|441/2100||1036|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1037T>C|p.?|554/7151|441/5655||1036| GT:AD:DP:GQ:PID 0|1:19:31:46:41255102 -17 41255111 . A T . . gnomad_exomes_an=31114;gnomad_exomes_hom=1530;gnomad_exomes_het=6684;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191429;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1028T>A|p.?|554/7088|441/5592||1027|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1028T>A|p.?|494/7028|300/5451||1027|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1028T>A|p.?|548/3696|441/2100||1027|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1028T>A|p.?|554/7151|441/5655||1027| GT:AD:DP:GQ:PID 0|1:19:31:46:41255102 -17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+64delT|p.?|554/7088|441/5592||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||63| GT:AD:DP:GQ:PID 0|1:11:17:43:41256074 -17 41256089 . AAAAAAAAAGAAAAG A . . gnomad_exomes_an=28388;gnomad_exomes_hom=1079;gnomad_exomes_het=5744;gnomad_genomes_an=167932;gnomad_genomes_hom=9911;gnomad_genomes_het=23697;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|554/7088|441/5592||35|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+36_300+49delCTTTTCTTTTTTTT|p.?|494/7028|300/5451||35|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|548/3696|441/2100||35|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|554/7151|441/5655||35| GT:AD:DP:GQ:PID 0|1:13:19:43:41256074 +17 41255102 . A G . . gnomad_exomes_an=31104;gnomad_exomes_hom=1426;gnomad_exomes_het=6400;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191428;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1037T>C|p.?|554/7088|441/5592||1036|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1037T>C|p.?|494/7028|300/5451||1036|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1037T>C|p.?|548/3696|441/2100||1036|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1037T>C|p.?|554/7151|441/5655||1036| GT:AD:DP:GQ:PS 0|1:19:31:46:41255102 +17 41255111 . A T . . gnomad_exomes_an=31114;gnomad_exomes_hom=1530;gnomad_exomes_het=6684;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191429;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1028T>A|p.?|554/7088|441/5592||1027|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1028T>A|p.?|494/7028|300/5451||1027|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1028T>A|p.?|548/3696|441/2100||1027|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1028T>A|p.?|554/7151|441/5655||1027| GT:AD:DP:GQ:PS 0|1:19:31:46:41255102 +17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+64delT|p.?|554/7088|441/5592||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||63| GT:AD:DP:GQ:PS 0|1:11:17:43:41256074 +17 41256089 . AAAAAAAAAGAAAAG A . . gnomad_exomes_an=28388;gnomad_exomes_hom=1079;gnomad_exomes_het=5744;gnomad_genomes_an=167932;gnomad_genomes_hom=9911;gnomad_genomes_het=23697;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|554/7088|441/5592||35|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+36_300+49delCTTTTCTTTTTTTT|p.?|494/7028|300/5451||35|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|548/3696|441/2100||35|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|554/7151|441/5655||35| GT:AD:DP:GQ:PS 0|1:13:19:43:41256074 17 41257134 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=4418;gnomad_exomes_het=6505;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV002415590;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|4/22|c.213-161A>G|p.?|326/7088|213/5592||-160|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-161A>G|p.?|266/7028|72/5451||-160|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-161A>G|p.?|320/3696|213/2100||-160|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-161A>G|p.?|326/7151|213/5655||-160| GT:AD:DP:GQ 0/1:14:29:48 17 41257458 . A C . . gnomad_exomes_an=31258;gnomad_exomes_hom=1500;gnomad_exomes_het=6414;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191434;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|4/22|c.213-485T>G|p.?|326/7088|213/5592||-484|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-485T>G|p.?|266/7028|72/5451||-484|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-485T>G|p.?|320/3696|213/2100||-484|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-485T>G|p.?|326/7151|213/5655||-484| GT:AD:DP:GQ 0/1:11:26:48 17 41258043 . C T . . gnomad_exomes_an=30426;gnomad_exomes_hom=1538;gnomad_exomes_het=6460;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191436;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|4/22|c.212+430G>A|p.?|325/7088|212/5592||429|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.71+430G>A|p.?|265/7028|71/5451||429|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.212+430G>A|p.?|319/3696|212/2100||429|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.212+430G>A|p.?|325/7151|212/5655||429| GT:AD:DP:GQ 0/1:14:27:48 @@ -97,20 +97,20 @@ expression: "std::fs::read_to_string(&args.path_out)?" 17 41263566 . T C . . gnomad_exomes_an=29818;gnomad_exomes_hom=1603;gnomad_exomes_het=6680;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191462;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+4177A>G|p.?|247/7088|134/5592||4176|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5016A>G|p.?|188/7028|-7/5451||-5015|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+4177A>G|p.?|241/3696|134/2100||4176|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+4177A>G|p.?|247/7151|134/5655||4176| GT:AD:DP:GQ 0/1:11:19:48 17 41264146 . G A . . gnomad_exomes_an=30782;gnomad_exomes_hom=1483;gnomad_exomes_het=6307;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191465;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+3597C>T|p.?|247/7088|134/5592||3596|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5596C>T|p.?|188/7028|-7/5451||-5595|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3597C>T|p.?|241/3696|134/2100||3596|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3597C>T|p.?|247/7151|134/5655||3596| GT:AD:DP:GQ 0/1:13:20:45 17 41264364 . A G . . gnomad_exomes_an=31320;gnomad_exomes_hom=1500;gnomad_exomes_het=6409;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191467;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+3379T>C|p.?|247/7088|134/5592||3378|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5814T>C|p.?|188/7028|-7/5451||-5813|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3379T>C|p.?|241/3696|134/2100||3378|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3379T>C|p.?|247/7151|134/5655||3378| GT:AD:DP:GQ 0/1:8:24:45 -17 41264739 . C T . . gnomad_exomes_an=30908;gnomad_exomes_hom=3162;gnomad_exomes_het=7226;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255084;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+3004G>A|p.?|247/7088|134/5592||3003|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6189G>A|p.?|188/7028|-7/5451||-6188|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3004G>A|p.?|241/3696|134/2100||3003|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3004G>A|p.?|247/7151|134/5655||3003| GT:AD:DP:GQ:PID 0|1:14:29:48:41264739 +17 41264739 . C T . . gnomad_exomes_an=30908;gnomad_exomes_hom=3162;gnomad_exomes_het=7226;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255084;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+3004G>A|p.?|247/7088|134/5592||3003|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6189G>A|p.?|188/7028|-7/5451||-6188|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3004G>A|p.?|241/3696|134/2100||3003|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3004G>A|p.?|247/7151|134/5655||3003| GT:AD:DP:GQ:PS 0|1:14:29:48:41264739 17 41264740 . TGA T . . gnomad_exomes_an=31014;gnomad_exomes_hom=3159;gnomad_exomes_het=7229;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+3001_134+3002delTC|p.?|247/7088|134/5592||3000|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6192_-7-6191delTC|p.?|188/7028|-7/5451||-6190|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3001_134+3002delTC|p.?|241/3696|134/2100||3000|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3001_134+3002delTC|p.?|247/7151|134/5655||3000| GT:AD:DP:GQ 0/1:14:30:48 -17 41264743 . CT C . . gnomad_exomes_an=30890;gnomad_exomes_hom=3155;gnomad_exomes_het=7228;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2999delA|p.?|247/7088|134/5592||2998|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6194delA|p.?|188/7028|-7/5451||-6193|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2999delA|p.?|241/3696|134/2100||2998|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2999delA|p.?|247/7151|134/5655||2998| GT:AD:DP:GQ:PID 0|1:14:29:48:41264739 -17 41264749 . C G . . gnomad_exomes_an=30892;gnomad_exomes_hom=3135;gnomad_exomes_het=7223;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000256095;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2994G>C|p.?|247/7088|134/5592||2993|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6199G>C|p.?|188/7028|-7/5451||-6198|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2994G>C|p.?|241/3696|134/2100||2993|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2994G>C|p.?|247/7151|134/5655||2993| GT:AD:DP:GQ:PID 0|1:14:29:48:41264739 -17 41264750 . A T . . gnomad_exomes_an=30880;gnomad_exomes_hom=3136;gnomad_exomes_het=7219;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255162;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2993T>A|p.?|247/7088|134/5592||2992|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6200T>A|p.?|188/7028|-7/5451||-6199|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2993T>A|p.?|241/3696|134/2100||2992|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2993T>A|p.?|247/7151|134/5655||2992| GT:AD:DP:GQ:PID 0|1:14:29:48:41264739 -17 41264751 . A AGGG . . gnomad_exomes_an=30776;gnomad_exomes_hom=3136;gnomad_exomes_het=7222;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2991_134+2992insCCC|p.?|247/7088|134/5592||2991|,AGGG|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6202_-7-6201insCCC|p.?|188/7028|-7/5451||-6201|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2991_134+2992insCCC|p.?|241/3696|134/2100||2991|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2991_134+2992insCCC|p.?|247/7151|134/5655||2991| GT:AD:DP:GQ:PID 0|1:14:29:48:41264739 -17 41264753 . C T . . gnomad_exomes_an=30714;gnomad_exomes_hom=3130;gnomad_exomes_het=7189;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255582;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2990G>A|p.?|247/7088|134/5592||2989|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6203G>A|p.?|188/7028|-7/5451||-6202|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2990G>A|p.?|241/3696|134/2100||2989|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2990G>A|p.?|247/7151|134/5655||2989| GT:AD:DP:GQ:PID 0|1:14:27:48:41264739 -17 41264755 . TGAAAC T . . gnomad_exomes_an=30768;gnomad_exomes_hom=3130;gnomad_exomes_het=7187;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2983_134+2987delGTTTC|p.?|247/7088|134/5592||2982|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6210_-7-6206delGTTTC|p.?|188/7028|-7/5451||-6205|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2983_134+2987delGTTTC|p.?|241/3696|134/2100||2982|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2983_134+2987delGTTTC|p.?|247/7151|134/5655||2982| GT:AD:DP:GQ:PID 0|1:14:27:48:41264739 +17 41264743 . CT C . . gnomad_exomes_an=30890;gnomad_exomes_hom=3155;gnomad_exomes_het=7228;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2999delA|p.?|247/7088|134/5592||2998|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6194delA|p.?|188/7028|-7/5451||-6193|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2999delA|p.?|241/3696|134/2100||2998|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2999delA|p.?|247/7151|134/5655||2998| GT:AD:DP:GQ:PS 0|1:14:29:48:41264739 +17 41264749 . C G . . gnomad_exomes_an=30892;gnomad_exomes_hom=3135;gnomad_exomes_het=7223;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000256095;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2994G>C|p.?|247/7088|134/5592||2993|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6199G>C|p.?|188/7028|-7/5451||-6198|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2994G>C|p.?|241/3696|134/2100||2993|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2994G>C|p.?|247/7151|134/5655||2993| GT:AD:DP:GQ:PS 0|1:14:29:48:41264739 +17 41264750 . A T . . gnomad_exomes_an=30880;gnomad_exomes_hom=3136;gnomad_exomes_het=7219;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255162;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2993T>A|p.?|247/7088|134/5592||2992|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6200T>A|p.?|188/7028|-7/5451||-6199|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2993T>A|p.?|241/3696|134/2100||2992|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2993T>A|p.?|247/7151|134/5655||2992| GT:AD:DP:GQ:PS 0|1:14:29:48:41264739 +17 41264751 . A AGGG . . gnomad_exomes_an=30776;gnomad_exomes_hom=3136;gnomad_exomes_het=7222;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2991_134+2992insCCC|p.?|247/7088|134/5592||2991|,AGGG|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6202_-7-6201insCCC|p.?|188/7028|-7/5451||-6201|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2991_134+2992insCCC|p.?|241/3696|134/2100||2991|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2991_134+2992insCCC|p.?|247/7151|134/5655||2991| GT:AD:DP:GQ:PS 0|1:14:29:48:41264739 +17 41264753 . C T . . gnomad_exomes_an=30714;gnomad_exomes_hom=3130;gnomad_exomes_het=7189;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255582;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2990G>A|p.?|247/7088|134/5592||2989|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6203G>A|p.?|188/7028|-7/5451||-6202|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2990G>A|p.?|241/3696|134/2100||2989|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2990G>A|p.?|247/7151|134/5655||2989| GT:AD:DP:GQ:PS 0|1:14:27:48:41264739 +17 41264755 . TGAAAC T . . gnomad_exomes_an=30768;gnomad_exomes_hom=3130;gnomad_exomes_het=7187;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+2983_134+2987delGTTTC|p.?|247/7088|134/5592||2982|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6210_-7-6206delGTTTC|p.?|188/7028|-7/5451||-6205|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2983_134+2987delGTTTC|p.?|241/3696|134/2100||2982|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2983_134+2987delGTTTC|p.?|247/7151|134/5655||2982| GT:AD:DP:GQ:PS 0|1:14:27:48:41264739 17 41265776 . A G . . gnomad_exomes_an=31332;gnomad_exomes_hom=1615;gnomad_exomes_het=6700;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191470;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+1967T>C|p.?|247/7088|134/5592||1966|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7226T>C|p.?|188/7028|-7/5451||-7225|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1967T>C|p.?|241/3696|134/2100||1966|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1967T>C|p.?|247/7151|134/5655||1966| GT:AD:DP:GQ 0/1:23:37:44 17 41266407 . C CT . . gnomad_exomes_an=22904;gnomad_exomes_hom=2326;gnomad_exomes_het=5197;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255595;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+1335_134+1336insA|p.?|247/7088|134/5592||1335|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7858_-7-7857insA|p.?|188/7028|-7/5451||-7857|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1335_134+1336insA|p.?|241/3696|134/2100||1335|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1335_134+1336insA|p.?|247/7151|134/5655||1335| GT:AD:DP:GQ 0/1:10:18:33 17 41267050 . G A . . gnomad_exomes_an=31332;gnomad_exomes_hom=1619;gnomad_exomes_het=6726;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191477;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+693C>T|p.?|247/7088|134/5592||692|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-8500C>T|p.?|188/7028|-7/5451||-8499|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+693C>T|p.?|241/3696|134/2100||692|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+693C>T|p.?|247/7151|134/5655||692| GT:AD:DP:GQ 0/1:7:23:44 17 41267518 . CA C . . gnomad_exomes_an=21564;gnomad_exomes_hom=937;gnomad_exomes_het=6113;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|3/22|c.134+224delT|p.?|247/7088|134/5592||223|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+8515delT|p.?|187/7028|-8/5451||8514|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+224delT|p.?|241/3696|134/2100||223|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+224delT|p.?|247/7151|134/5655||223| GT:AD:DP:GQ 0/1:11:19:35 -17 41268206 . A C . . gnomad_exomes_an=31210;gnomad_exomes_hom=1544;gnomad_exomes_het=6707;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191483;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.81-410T>G|p.?|194/7088|81/5592||-409|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7828T>G|p.?|187/7028|-8/5451||7827|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-410T>G|p.?|188/3696|81/2100||-409|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-410T>G|p.?|194/7151|81/5655||-409| GT:AD:DP:GQ:PID 0|1:13:22:46:41268206 -17 41268208 . C CT . . gnomad_exomes_an=31128;gnomad_exomes_hom=1385;gnomad_exomes_het=6554;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255730;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.81-413_81-412insA|p.?|194/7088|81/5592||-412|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7825_-8+7826insA|p.?|187/7028|-8/5451||7825|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-413_81-412insA|p.?|188/3696|81/2100||-412|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-413_81-412insA|p.?|194/7151|81/5655||-412| GT:AD:DP:GQ:PID 0|1:13:22:46:41268206 +17 41268206 . A C . . gnomad_exomes_an=31210;gnomad_exomes_hom=1544;gnomad_exomes_het=6707;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191483;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.81-410T>G|p.?|194/7088|81/5592||-409|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7828T>G|p.?|187/7028|-8/5451||7827|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-410T>G|p.?|188/3696|81/2100||-409|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-410T>G|p.?|194/7151|81/5655||-409| GT:AD:DP:GQ:PS 0|1:13:22:46:41268206 +17 41268208 . C CT . . gnomad_exomes_an=31128;gnomad_exomes_hom=1385;gnomad_exomes_het=6554;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000255730;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.81-413_81-412insA|p.?|194/7088|81/5592||-412|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7825_-8+7826insA|p.?|187/7028|-8/5451||7825|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-413_81-412insA|p.?|188/3696|81/2100||-412|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-413_81-412insA|p.?|194/7151|81/5655||-412| GT:AD:DP:GQ:PS 0|1:13:22:46:41268206 17 41270229 . T G . . gnomad_exomes_an=31274;gnomad_exomes_hom=1606;gnomad_exomes_het=6696;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191491;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.81-2433A>C|p.?|194/7088|81/5592||-2432|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5805A>C|p.?|187/7028|-8/5451||5804|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2433A>C|p.?|188/3696|81/2100||-2432|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2433A>C|p.?|194/7151|81/5655||-2432| GT:AD:DP:GQ 0/1:7:24:40 17 41270277 . C T . . gnomad_exomes_an=31338;gnomad_exomes_hom=1513;gnomad_exomes_het=6416;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191493;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.81-2481G>A|p.?|194/7088|81/5592||-2480|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5757G>A|p.?|187/7028|-8/5451||5756|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2481G>A|p.?|188/3696|81/2100||-2480|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2481G>A|p.?|194/7151|81/5655||-2480| GT:AD:DP:GQ 0/1:9:22:48 17 41270463 . G A . . gnomad_exomes_an=30876;gnomad_exomes_hom=1578;gnomad_exomes_het=6604;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191497;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.81-2667C>T|p.?|194/7088|81/5592||-2666|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5571C>T|p.?|187/7028|-8/5451||5570|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2667C>T|p.?|188/3696|81/2100||-2666|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2667C>T|p.?|194/7151|81/5655||-2666| GT:AD:DP:GQ 0/1:15:28:48 @@ -161,8 +161,8 @@ MT 3631 . T A . . . GT:GQ:AD:DP 0/1:20.17:5740:5893 MT 3633 . T A . . . GT:GQ:AD:DP 0/1:10.82:5829:5943 MT 4434 . T G . . . GT:GQ:AD:DP 0/1:0.79:7711:7878 MT 4491 . G A . . . GT:GQ:AD:DP 0/1:14.25:6096:6108 -MT 4745 . A G . . . GT:GQ:AD:DP:PID 1|1:94.1:0:4255:4745 -MT 4769 . A G . . . GT:GQ:AD:DP:PID 1|1:96.49:0:4115:4745 +MT 4745 . A G . . . GT:GQ:AD:DP:PS 1|1:94.1:0:4255:4745 +MT 4769 . A G . . . GT:GQ:AD:DP:PS 1|1:96.49:0:4115:4745 MT 6518 . C T . . . GT:GQ:AD:DP 0/1:21.4:9464:9504 MT 7337 . G A . . . GT:GQ:AD:DP 1/1:93.49:2:8855 MT 8129 . A C . . . GT:GQ:AD:DP 0/1:20.26:7971:8173 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_4_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_4_vcf.snap index 46e482c3..e86161e4 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_4_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_4_vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= @@ -51,6 +51,6 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 -17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+64delT|p.?|554/7088|441/5592||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||63| GT:AD:DP:GQ:PID 0|1:11:17:43:41256074 +17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+64delT|p.?|554/7088|441/5592||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||63| GT:AD:DP:GQ:PS 0|1:11:17:43:41256074 MT 750 . A G . . . GT:GQ:AD:DP 1/1:98.13:1:7819 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_9_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_9_vcf.snap index b6a5dbb0..b8c53f53 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_9_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_9_vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= @@ -51,6 +51,6 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CASE -17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+64delT|p.?|554/7088|441/5592||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||63| GT:AD:DP:GQ:PID 0|1:18:32:47:41256074 +17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+64delT|p.?|554/7088|441/5592||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||63| GT:AD:DP:GQ:PS 0|1:18:32:47:41256074 MT 750 . A G . . . GT:GQ:AD:DP 1/1:98.13:1:5608 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_3_7-0_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_3_7-0_vcf.snap index aea06bdc..3399500d 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_3_7-0_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_3_7-0_vcf.snap @@ -20,7 +20,7 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##FORMAT= ##FORMAT= ##FORMAT= -##FORMAT= +##FORMAT= ##contig= ##contig= ##contig= diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_4_4_0_0_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_4_4_0_0_vcf.snap new file mode 100644 index 00000000..0a627942 --- /dev/null +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_4_4_0_0_vcf.snap @@ -0,0 +1,56 @@ +--- +source: src/seqvars/ingest/mod.rs +expression: "std::fs::read_to_string(&args.path_out)?" +--- +##fileformat=VCFv4.4 +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##FILTER= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##SAMPLE= +##PEDIGREE= +##x-varfish-version= +##x-varfish-version= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CASE +17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+64delT|p.?|554/7088|441/5592||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||63| GT:AD:DP:GQ:PS 1|1:0:80:99:41256074 +MT 750 . A G . . . GT:AD:DP:GQ 1/1:0:35:99 + diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_gz.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_gz.snap new file mode 100644 index 00000000..5fa7e8b1 --- /dev/null +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_gz.snap @@ -0,0 +1,514 @@ +--- +source: src/seqvars/ingest/mod.rs +expression: "String::from_utf8_lossy(&buffer)" +--- +0000: 1F 8B 08 00 00 00 00 00 00 FF CD 9D 59 73 1B 47 ............Ys.G +0016: 92 80 9F 39 BF 82 21 47 EC 3C 48 84 EA 3E A0 A5 ...9..!G... +0032: 36 30 A4 0C 2B D6 92 35 14 C6 B3 FB 84 A0 69 58 60..+..5......iX +0048: 62 8C 48 6A 49 DA 6B 6F E0 C7 6F D6 D5 E8 23 AB b.HjI.ko..o...#. +0064: 41 B2 AB 3B AC 19 A9 61 F4 91 59 59 5F 25 B2 B2 A..;...a..YY_%.. +0080: 8E FE E6 9B 5F 2E BF 6C 7E B9 B9 BD 3A BF 3F FE ...._..l~...:.?. +0096: F1 E4 DB DF C4 4C FC E5 9B 6F DE BE FF F6 87 E3 .....L...o...... +0112: 7F 7F 7B 7A FC E9 FA E6 EA FC E7 F5 E6 F7 9B AB ..{z............ +0128: CD DD FA FC FA C5 FB 5F AF 7E DA DC 1E D3 17 AB ......._.~...... +0144: 3F BE 6E 8E DF 5E DF 6F 3E 6D 6E 5F 9C 6E EE 2E ?.n..^.o>mn_.n.. +0160: 6E 2F BF DE 5F DE 5C 1F 3F 0B 97 1C DE FC 72 78 n/.._.\.?.....rx +0176: 77 7E F5 F5 CB E6 EE F0 F2 FA D0 3D 68 71 7A 18 w~.........=hqz. +0192: 1E F4 EC 75 5E C6 E7 9B AB C7 09 81 1B 66 87 E7 ...u^........f.. +0208: 5F EE 67 87 17 E7 B7 B7 97 9B DB 47 CA DB DC 3F _.g........G...? +0224: 52 DE E6 7E 98 BC AB CB C7 0A BC BA 7C 92 C4 4F R..~........|..O +0240: 9B EB 42 D5 16 9F D4 2B A5 6C C5 3D 48 62 D1 AA ..B....+.l.=Hb.. +0256: 7B 98 C4 B2 95 87 CA FC BC F9 72 F9 FB 90 4A FB {.........r...J. +0272: CE 3D E0 DD FD E9 4F D8 73 0B 55 53 BF 8C 32 15 .=....O.s.US..2. +0288: 93 91 B1 78 FF 3E 3D 7D 16 9E FE F1 FE F6 F2 FA ...x.>=}........ +0304: 53 F3 E1 DF FE 7A 7D E1 3E 9D 7F 39 3C BF BE BE S....z}.>..9<... +0320: B9 3F 77 FF 71 37 3F FC EB 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