diff --git a/README.md b/README.md index da6ed694e..e477fbc21 100644 --- a/README.md +++ b/README.md @@ -22,6 +22,15 @@ This branch contains test data to be used for automated testing with the [nf-cor `reference/mobile_elemement_references.tsv`: tsv file with paths to the mobile element locations on chromosome 21 +### For SNV subworkflow, scoring variants with MIVMIR, GICAM +`reference/rank_model_dummy_mivmir_gicam_unit_test.ini`: Dummy genmod config for running genmod scoring + +`testdata/justhusky_snv_rank_variants_mivmir_gicam.vcf`: Data for running `rank_variants` subworkflow with MIVMIR, GICAM + +`testdata/justhusky_snv_mivmir.vcf`: Data for running MIVMIR module test + +`testdata/justhusky_snv_gicam.vcf`: Data for running GICAM module test + ### For Mitochondrial subworkflow `reference/Homo_sapiens_assembly38_chr20_chrM.fasta`: chr20 and chrM hg38 reference fasta file diff --git a/reference/rank_model_dummy_mivmir_gicam_unit_test.ini b/reference/rank_model_dummy_mivmir_gicam_unit_test.ini new file mode 100644 index 000000000..2f582fe50 --- /dev/null +++ b/reference/rank_model_dummy_mivmir_gicam_unit_test.ini @@ -0,0 +1,337 @@ +[Version] + version = 1.34 + name = rank_model + +[Categories] + [[allele_frequency]] + category_aggregation = min + + [[protein_prediction]] + category_aggregation = sum + + [[gene_intolerance_prediction]] + category_aggregation = max + + [[inheritance_models]] + category_aggregation = min + + [[consequence]] + category_aggregation = max + + [[conservation]] + category_aggregation = sum + + [[variant_call_quality_filter]] + category_aggregation = sum + + [[deleteriousness]] + category_aggregation = max + + [[clinical_significance]] + category_aggregation = sum + + [[splicing]] + category_aggregation = max + +[model_score] + category = variant_call_quality_filter + data_type = integer + description = Inheritance model score + field = INFO + info_key = ModelScore + record_rule = min + separators = ',',':', + + [[not_reported]] + score = 0 + + [[low_qual]] + score = -5 + lower = 0 + upper = 10 + + [[medium_qual]] + score = -2 + lower = 10 + upper = 20 + + [[high_qual]] + score = 0 + lower = 20 + upper = 300 + +[genetic_models] + category = inheritance_models + data_type = string + description = Inheritance models followed for the variant + field = INFO + info_key = GeneticModels + record_rule = max + separators = ',', ':', '|', + + [[ad]] + priority = 1 + score = 1 + string = 'AD' + + [[ad_dn]] + score = 1 + priority = 1 + string = 'AD_dn' + + [[ar]] + score = 1 + priority = 1 + string = 'AR_hom' + + [[ar_dn]] + score = 1 + priority = 1 + string = 'AR_hom_dn' + + [[ar_comp]] + score = 1 + priority = 1 + string = 'AR_comp' + + [[ar_comp_dn]] + score = 1 + priority = 1 + string = 'AR_comp_dn' + + [[xr]] + score = 1 + priority = 1 + string = 'XR' + + [[xr_dn]] + score = 1 + priority = 1 + string = 'XR_dn' + + [[xd]] + score = 1 + priority = 1 + string = 'XD' + + [[xd_dn]] + score = 1 + priority = 1 + string = 'XD_dn' + + [[not_reported]] + score = -12 + +[most_severe_consequence] + category = consequence + data_type = string + description = Most severe consequence for this variant + field = INFO + info_key = most_severe_consequence + record_rule = max + separators = ',', ':', '|', + + [[transcript_ablation]] + score = 10 + priority = 6 + string = 'transcript_ablation' + + [[initiator_codon_variant]] + score = 9 + priority = 5 + string = 'initiator_codon_variant' + + [[frameshift_variant]] + score = 8 + priority = 5 + string = 'frameshift_variant' + + [[stop_gained]] + score = 8 + priority = 5 + string = 'stop_gained' + + [[start_lost]] + score = 8 + priority = 5 + string = 'start_lost' + + [[stop_lost]] + score = 8 + priority = 5 + string = 'stop_lost' + + [[splice_acceptor_variant]] + score = 8 + priority = 5 + string = 'splice_acceptor_variant' + + [[splice_donor_variant]] + score = 8 + priority = 5 + string = 'splice_donor_variant' + + [[inframe_deletion]] + score = 5 + priority = 4 + string = 'inframe_deletion' + + [[transcript_amplification]] + score = 5 + priority = 4 + string = 'transcript_amplification' + + [[splice_region_variant]] + score = 5 + priority = 4 + string = 'splice_region_variant' + + [[missense_variant]] + score = 5 + priority = 4 + string = 'missense_variant' + + [[protein_altering_variant]] + score = 5 + priority = 4 + string = 'protein_altering_variant' + + [[inframe_insertion]] + score = 5 + priority = 4 + string = 'inframe_insertion' + + [[incomplete_terminal_codon_variant]] + score = 5 + priority = 4 + string = 'incomplete_terminal_codon_variant' + + [[non_coding_transcript_exon_variant]] + score = 3 + priority = 2 + string = 'non_coding_transcript_exon_variant' + + [[synonymous_variant]] + score = 2 + priority = 2 + string = 'synonymous_variant' + + [[mature_mirna_variant]] + score = 1 + priority = 2 + string = 'mature_mirna_variant' + + [[non_coding_transcript_variant]] + score = 1 + priority = 2 + string = 'non_coding_transcript_variant' + + [[regulatory_region_variant]] + score = 1 + priority = 2 + string = 'regulatory_region_variant' + + [[upstream_gene_variant]] + score = 1 + priority = 2 + string = 'upstream_gene_variant' + + [[regulatory_region_amplification]] + score = 1 + priority = 2 + string = 'regulatory_region_amplification' + + [[tfbs_amplification]] + score = 1 + priority = 2 + string = 'tfbs_amplification' + + [[5_prime_utr_variant]] + score = 1 + priority = 2 + string = '5_prime_utr_variant' + + [[intron_variant]] + score = 1 + priority = 2 + string = 'intron_variant' + + [[3_prime_utr_variant]] + score = 1 + priority = 2 + string = '3_prime_utr_variant' + + [[feature_truncation]] + score = 1 + priority = 2 + string = 'feature_truncation' + + [[TF_binding_site_variant]] + score = 1 + priority = 2 + string = 'TF_binding_site_variant' + + [[stop_retained_variant]] + score = 1 + priority = 2 + string = 'stop_retained_variant' + + [[feature_elongation]] + score = 1 + priority = 2 + string = 'feature_elongation' + + [[regulatory_region_ablation]] + score = 1 + priority = 2 + string = 'regulatory_region_ablation' + + [[tfbs_ablation]] + score = 1 + priority = 2 + string = 'tfbs_ablation' + + [[coding_sequence_variant]] + score = 1 + priority = 2 + string = 'coding_sequence_variant' + + [[downstream_gene_variant]] + score = 1 + priority = 2 + string = 'downstream_gene_variant' + + [[NMD_transcript_variant]] + score = 1 + priority = 2 + string = 'NMD_transcript_variant' + + [[intergenic_variant]] + score = 0 + priority = 0 + string = 'intergenic_variant' + + [[not_reported]] + score = 0 + +[filter] + category = variant_call_quality_filter + data_type = string + description = The filters for the variant + field = FILTER + record_rule = min + separators = ';', + + [[not_reported]] + score = 0 + + [[pass]] + score = 3 + priority = 1 + string = 'PASS' + + [[dot]] + score = 3 + priority = 2 + string = '.' + diff --git a/testdata/justhusky_snv_rank_variants_mivmir_gicam.vcf b/testdata/justhusky_snv_rank_variants_mivmir_gicam.vcf new file mode 100644 index 000000000..a210f2795 --- /dev/null +++ b/testdata/justhusky_snv_rank_variants_mivmir_gicam.vcf @@ -0,0 +1,94 @@ +##fileformat=VCFv4.2 +##FILTER= +##FILTER= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO== 0.10 and < 0.95 (from vcfanno_gnomad_mt.vcf.gz)"> +##INFO== 0.95 (from vcfanno_gnomad_mt.vcf.gz)"> +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##GATKCommandLine= +##GLnexusConfig={unifier_config: {drop_filtered: false, min_allele_copy_number: 1, min_AQ1: 0, min_AQ2: 0, min_GQ: 0, max_alleles_per_site: 32, monoallelic_sites_for_lost_alleles: true, preference: common}, genotyper_config: {revise_genotypes: false, min_assumed_allele_frequency: 9.99999975e-05, snv_prior_calibration: 1, indel_prior_calibration: 1, required_dp: 0, allow_partial_data: true, allele_dp_format: AD, ref_dp_format: MIN_DP, output_residuals: false, more_PL: true, squeeze: false, trim_uncalled_alleles: true, top_two_half_calls: false, output_format: BCF, liftover_fields: [{orig_names: [MIN_DP, DP], name: DP, description: "##FORMAT=", type: int, number: basic, default_type: missing, count: 1, combi_method: min, ignore_non_variants: true}, {orig_names: [AD], name: AD, description: "##FORMAT=", type: int, number: alleles, default_type: zero, count: 0, combi_method: min, ignore_non_variants: false}, {orig_names: [GQ], name: GQ, description: "##FORMAT=", type: int, number: basic, default_type: missing, count: 1, combi_method: min, ignore_non_variants: true}, {orig_names: [PL], name: PL, description: "##FORMAT=", type: int, number: genotype, default_type: missing, count: 0, combi_method: missing, ignore_non_variants: true}]}} +##GLnexusConfigCRC32C=3285998180 +##GLnexusConfigName=DeepVariant_unfiltered +##GLnexusVersion=v1.4.1-0-g68e25e5 +##bcftools_annotateCommand=annotate -c CHROM,FROM,TO,FOUND_IN --output-type z --write-index=tbi --annotations deepvariant.bed.gz --header-lines foundin.hdr --output justhusky_split_rmdup_info.vcf.gz --threads 2 justhusky_split_rmdup.vcf.gz; Date=Thu Apr 16 08:31:05 2026 +##bcftools_annotateVersion=1.22+htslib-1.22.1 +##bcftools_normCommand=norm --fasta-ref reference.fasta --output justhusky.vcf.gz --output-type z --multiallelics -both --threads 4 justhusky.bcf; Date=Thu Apr 16 08:30:41 2026 +##bcftools_normVersion=1.22+htslib-1.22.1 +##rhocall_arguments=vcf=justhusky_snv.vcf.gz, roh=<_io.TextIOWrapper name='justhusky_roh.roh' mode='r' encoding='UTF-8'>, v14=True, quality_threshold=10.0, flag_upd_at_fraction=0.4, output=, verbose=2, loglevel=INFO, proband_vcf= +##rhocall_version=0.5.1 +##source=SelectVariants +##vcfanno=0.3.7 +##bcftools_viewVersion=1.22+htslib-1.22.1 +##bcftools_viewCommand=view --output justhusky_rhocall_filter_0000-scattered.vcf.gz --output-type z --write-index=tbi --exclude 'INFO/GNOMADAF > 0.70 | INFO/GNOMADAF_popmax > 0.70' --threads 4 justhusky_rhocall_vcfanno_0000-scattered.vcf.gz; Date=Thu Apr 16 08:32:31 2026 +##VEP="v110" time="2026-04-16 08:32:44" cache="/opt/home/tor.bjorgen/repos/cg/raredisease/work/7b/483d914adab45b42e61f0f07551aff/vep_cache/homo_sapiens_merged/107_GRCh37" ensembl-variation=110.d34d25e ensembl-funcgen=110.24e6da6 ensembl-io=110.b1a0d57 ensembl=110.584a8f3 1000genomes="phase3" COSMIC="92" ClinVar="202012" HGMD-PUBLIC="20204" assembly="GRCh37.p13" dbSNP="154" gencode="GENCODE 19" genebuild="2011-04" gnomADe="r2.1" polyphen="2.2.2" refseq="2020-10-26 17:03:42 - GCF_000001405.25_GRCh37.p13_genomic.gff" regbuild="1.0" sift="sift5.2.2" +##LoFtool=LoFtool score for gene +##pLI_gene_value=pLI value by gene +##SpliceAI_pred_DP_AG=SpliceAI predicted effect on splicing. Delta position for acceptor gain +##SpliceAI_pred_DP_AL=SpliceAI predicted effect on splicing. Delta position for acceptor loss +##SpliceAI_pred_DP_DG=SpliceAI predicted effect on splicing. Delta position for donor gain +##SpliceAI_pred_DP_DL=SpliceAI predicted effect on splicing. Delta position for donor loss +##SpliceAI_pred_DS_AG=SpliceAI predicted effect on splicing. Delta score for acceptor gain +##SpliceAI_pred_DS_AL=SpliceAI predicted effect on splicing. Delta score for acceptor loss +##SpliceAI_pred_DS_DG=SpliceAI predicted effect on splicing. Delta score for donor gain +##SpliceAI_pred_DS_DL=SpliceAI predicted effect on splicing. Delta score for donor loss +##SpliceAI_pred_SYMBOL=SpliceAI gene symbol +##VEP-command-line='vep --appris --assembly GRCh37 --biotype --buffer_size 20000 --cache --cache_version 107 --canonical --ccds --compress_output bgzip --database 0 --dir_cache [PATH]/vep_cache --dir_plugins [PATH]/Plugins --distance 5000 --domains --exclude_predicted --fasta reference.fasta --force_overwrite --fork 4 --format vcf --hgvs --humdiv --input_file justhusky_rhocall_filter_0000-scattered.vcf.gz --max_sv_size 248956422 --merged --no_progress --numbers --offline --output_file justhusky_rhocall_filter_vep_0000-scattered.vcf.gz --plugin LoFtool,LoFtool_scores.txt --plugin pLI,pLI_values.txt --plugin SpliceAI,snv=spliceai_21_scores_raw_snv_-v1.3-.vcf.gz,indel=spliceai_21_scores_raw_snv_-v1.3-.vcf.gz --polyphen p --protein --regulatory --sift p --symbol --tsl --uniprot --vcf' +##bcftools_concatVersion=1.22+htslib-1.22.1 +##bcftools_concatCommand=concat --output justhusky_rhocall_filter_vep.vcf.gz -Oz --write-index=tbi --threads 4 justhusky_rhocall_filter_vep_0000-scattered.vcf.gz justhusky_rhocall_filter_vep_0001-scattered.vcf.gz justhusky_rhocall_filter_vep_0002-scattered.vcf.gz justhusky_rhocall_filter_vep_0003-scattered.vcf.gz justhusky_rhocall_filter_vep_0004-scattered.vcf.gz justhusky_rhocall_filter_vep_0005-scattered.vcf.gz justhusky_rhocall_filter_vep_0006-scattered.vcf.gz justhusky_rhocall_filter_vep_0007-scattered.vcf.gz justhusky_rhocall_filter_vep_0008-scattered.vcf.gz justhusky_rhocall_filter_vep_0009-scattered.vcf.gz justhusky_rhocall_filter_vep_0010-scattered.vcf.gz justhusky_rhocall_filter_vep_0011-scattered.vcf.gz justhusky_rhocall_filter_vep_0012-scattered.vcf.gz justhusky_rhocall_filter_vep_0013-scattered.vcf.gz justhusky_rhocall_filter_vep_0014-scattered.vcf.gz justhusky_rhocall_filter_vep_0015-scattered.vcf.gz justhusky_rhocall_filter_vep_0016-scattered.vcf.gz justhusky_rhocall_filter_vep_0017-scattered.vcf.gz justhusky_rhocall_filter_vep_0018-scattered.vcf.gz justhusky_rhocall_filter_vep_0019-scattered.vcf.gz; Date=Thu Apr 16 08:33:00 2026 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT earlycasualcaiman hugelymodelbat slowlycivilbuck +21 32863220 21_32863220_G_A G A 5 . AF=0.333333;AQ=5;FOUND_IN=deepvariant;CSQ=A|intron_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000286827|protein_coding||1/28|ENST00000286827.3:c.-421-26872C>T|||||||||-1||HGNC|11805|YES|||CCDS13609.1|ENSP00000286827|TIAM1_HUMAN|C9JMB5_HUMAN|UPI000013DE6F|||Ensembl||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000469412|processed_transcript||1/8|ENST00000469412.1:n.60-26872C>T|||||||||-1||HGNC|11805|||||||||||Ensembl||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353688.1|protein_coding||1/29|NM_001353688.1:c.-706-26872C>T|||||||||-1||EntrezGene|11805|||||NP_001340617.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353689.1|protein_coding||1/28|NM_001353689.1:c.-488-26872C>T|||||||||-1||EntrezGene|11805|||||NP_001340618.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353690.1|protein_coding||1/27|NM_001353690.1:c.-369+68020C>T|||||||||-1||EntrezGene|11805|||||NP_001340619.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353691.1|protein_coding||1/29|NM_001353691.1:c.-517-26872C>T|||||||||-1||EntrezGene|11805|||||NP_001340620.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353692.1|protein_coding||1/27|NM_001353692.1:c.-311-26872C>T|||||||||-1||EntrezGene|11805|||||NP_001340621.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353693.1|protein_coding||1/28|NM_001353693.1:c.-421-26872C>T|||||||||-1||EntrezGene|11805|YES||||NP_001340622.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_003253.3|protein_coding||1/28|NM_003253.3:c.-421-26872C>T|||||||||-1||EntrezGene|11805|||||NP_003244.2||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||;most_severe_consequence=11805:A|intron_variant;most_severe_pli=1 GT:DP:AD:GQ:PL:RNC 0/0:0:0,0:1:0,0,0:.. 1/1:2:0,2:6:5,14,0:.. 0/0:0:0,0:1:0,0,0:.. +21 32863228 21_32863228_T_A T A 5 . AF=0.333333;AQ=5;FOUND_IN=deepvariant;CSQ=A|intron_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000286827|protein_coding||1/28|ENST00000286827.3:c.-421-26880A>T|||||||||-1||HGNC|11805|YES|||CCDS13609.1|ENSP00000286827|TIAM1_HUMAN|C9JMB5_HUMAN|UPI000013DE6F|||Ensembl||T|T|||||||||||0.421|1.00|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000469412|processed_transcript||1/8|ENST00000469412.1:n.60-26880A>T|||||||||-1||HGNC|11805|||||||||||Ensembl||T|T|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353688.1|protein_coding||1/29|NM_001353688.1:c.-706-26880A>T|||||||||-1||EntrezGene|11805|||||NP_001340617.1||||||RefSeq||T|T|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353689.1|protein_coding||1/28|NM_001353689.1:c.-488-26880A>T|||||||||-1||EntrezGene|11805|||||NP_001340618.1||||||RefSeq||T|T|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353690.1|protein_coding||1/27|NM_001353690.1:c.-369+68012A>T|||||||||-1||EntrezGene|11805|||||NP_001340619.1||||||RefSeq||T|T|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353691.1|protein_coding||1/29|NM_001353691.1:c.-517-26880A>T|||||||||-1||EntrezGene|11805|||||NP_001340620.1||||||RefSeq||T|T|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353692.1|protein_coding||1/27|NM_001353692.1:c.-311-26880A>T|||||||||-1||EntrezGene|11805|||||NP_001340621.1||||||RefSeq||T|T|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353693.1|protein_coding||1/28|NM_001353693.1:c.-421-26880A>T|||||||||-1||EntrezGene|11805|YES||||NP_001340622.1||||||RefSeq||T|T|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_003253.3|protein_coding||1/28|NM_003253.3:c.-421-26880A>T|||||||||-1||EntrezGene|11805|||||NP_003244.2||||||RefSeq||T|T|||||||||||0.421|1.00|||||||||;most_severe_consequence=11805:A|intron_variant;most_severe_pli=1 GT:DP:AD:GQ:PL:RNC 0/0:0:0,0:1:0,0,0:.. 1/1:2:0,2:6:5,15,0:.. 0/0:0:0,0:1:0,0,0:.. +21 32863233 21_32863233_A_T A T 5 . AF=0.333333;AQ=5;FOUND_IN=deepvariant;CSQ=T|intron_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000286827|protein_coding||1/28|ENST00000286827.3:c.-421-26885T>A|||||||||-1||HGNC|11805|YES|||CCDS13609.1|ENSP00000286827|TIAM1_HUMAN|C9JMB5_HUMAN|UPI000013DE6F|||Ensembl||A|A|||||||||||0.421|1.00|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000469412|processed_transcript||1/8|ENST00000469412.1:n.60-26885T>A|||||||||-1||HGNC|11805|||||||||||Ensembl||A|A|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353688.1|protein_coding||1/29|NM_001353688.1:c.-706-26885T>A|||||||||-1||EntrezGene|11805|||||NP_001340617.1||||||RefSeq||A|A|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353689.1|protein_coding||1/28|NM_001353689.1:c.-488-26885T>A|||||||||-1||EntrezGene|11805|||||NP_001340618.1||||||RefSeq||A|A|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353690.1|protein_coding||1/27|NM_001353690.1:c.-369+68007T>A|||||||||-1||EntrezGene|11805|||||NP_001340619.1||||||RefSeq||A|A|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353691.1|protein_coding||1/29|NM_001353691.1:c.-517-26885T>A|||||||||-1||EntrezGene|11805|||||NP_001340620.1||||||RefSeq||A|A|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353692.1|protein_coding||1/27|NM_001353692.1:c.-311-26885T>A|||||||||-1||EntrezGene|11805|||||NP_001340621.1||||||RefSeq||A|A|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353693.1|protein_coding||1/28|NM_001353693.1:c.-421-26885T>A|||||||||-1||EntrezGene|11805|YES||||NP_001340622.1||||||RefSeq||A|A|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_003253.3|protein_coding||1/28|NM_003253.3:c.-421-26885T>A|||||||||-1||EntrezGene|11805|||||NP_003244.2||||||RefSeq||A|A|||||||||||0.421|1.00|||||||||;most_severe_consequence=11805:T|intron_variant;most_severe_pli=1 GT:DP:AD:GQ:PL:RNC 0/0:0:0,0:1:0,0,0:.. 1/1:2:0,2:6:5,15,0:.. 0/0:0:0,0:1:0,0,0:.. +21 32863244 21_32863244_C_T C T 6 . AF=0.333333;AQ=6;FOUND_IN=deepvariant;CSQ=T|intron_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000286827|protein_coding||1/28|ENST00000286827.3:c.-421-26896G>A|||||||||-1||HGNC|11805|YES|||CCDS13609.1|ENSP00000286827|TIAM1_HUMAN|C9JMB5_HUMAN|UPI000013DE6F|||Ensembl||C|C|||||||||||0.421|1.00|||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000469412|processed_transcript||1/8|ENST00000469412.1:n.60-26896G>A|||||||||-1||HGNC|11805|||||||||||Ensembl||C|C|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353688.1|protein_coding||1/29|NM_001353688.1:c.-706-26896G>A|||||||||-1||EntrezGene|11805|||||NP_001340617.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353689.1|protein_coding||1/28|NM_001353689.1:c.-488-26896G>A|||||||||-1||EntrezGene|11805|||||NP_001340618.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353690.1|protein_coding||1/27|NM_001353690.1:c.-369+67996G>A|||||||||-1||EntrezGene|11805|||||NP_001340619.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353691.1|protein_coding||1/29|NM_001353691.1:c.-517-26896G>A|||||||||-1||EntrezGene|11805|||||NP_001340620.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353692.1|protein_coding||1/27|NM_001353692.1:c.-311-26896G>A|||||||||-1||EntrezGene|11805|||||NP_001340621.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353693.1|protein_coding||1/28|NM_001353693.1:c.-421-26896G>A|||||||||-1||EntrezGene|11805|YES||||NP_001340622.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,T|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_003253.3|protein_coding||1/28|NM_003253.3:c.-421-26896G>A|||||||||-1||EntrezGene|11805|||||NP_003244.2||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||;most_severe_consequence=11805:T|intron_variant;most_severe_pli=1 GT:DP:AD:GQ:PL:RNC 0/0:0:0,0:1:0,0,0:.. 1/1:2:0,2:7:6,15,0:.. 0/0:0:0,0:1:0,0,0:.. +21 32863253 21_32863253_C_G C G 7 . AF=0.333333;AQ=7;FOUND_IN=deepvariant;CSQ=G|intron_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000286827|protein_coding||1/28|ENST00000286827.3:c.-421-26905G>C|||||||||-1||HGNC|11805|YES|||CCDS13609.1|ENSP00000286827|TIAM1_HUMAN|C9JMB5_HUMAN|UPI000013DE6F|||Ensembl||C|C|||||||||||0.421|1.00|||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000469412|processed_transcript||1/8|ENST00000469412.1:n.60-26905G>C|||||||||-1||HGNC|11805|||||||||||Ensembl||C|C|||||||||||0.421|1.00|||||||||,G|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353688.1|protein_coding||1/29|NM_001353688.1:c.-706-26905G>C|||||||||-1||EntrezGene|11805|||||NP_001340617.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,G|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353689.1|protein_coding||1/28|NM_001353689.1:c.-488-26905G>C|||||||||-1||EntrezGene|11805|||||NP_001340618.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,G|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353690.1|protein_coding||1/27|NM_001353690.1:c.-369+67987G>C|||||||||-1||EntrezGene|11805|||||NP_001340619.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,G|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353691.1|protein_coding||1/29|NM_001353691.1:c.-517-26905G>C|||||||||-1||EntrezGene|11805|||||NP_001340620.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,G|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353692.1|protein_coding||1/27|NM_001353692.1:c.-311-26905G>C|||||||||-1||EntrezGene|11805|||||NP_001340621.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,G|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353693.1|protein_coding||1/28|NM_001353693.1:c.-421-26905G>C|||||||||-1||EntrezGene|11805|YES||||NP_001340622.1||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||,G|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_003253.3|protein_coding||1/28|NM_003253.3:c.-421-26905G>C|||||||||-1||EntrezGene|11805|||||NP_003244.2||||||RefSeq||C|C|||||||||||0.421|1.00|||||||||;most_severe_consequence=11805:G|intron_variant;most_severe_pli=1 GT:DP:AD:GQ:PL:RNC 0/0:0:0,0:1:0,0,0:.. 1/1:2:0,2:8:7,16,0:.. 0/0:0:0,0:1:0,0,0:.. +21 32863305 21_32863305_G_A G A 0 . AF=0.333333;FOUND_IN=deepvariant;CSQ=A|intron_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000286827|protein_coding||1/28|ENST00000286827.3:c.-421-26957C>T|||||||||-1||HGNC|11805|YES|||CCDS13609.1|ENSP00000286827|TIAM1_HUMAN|C9JMB5_HUMAN|UPI000013DE6F|||Ensembl||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|TIAM1|ENSG00000156299|Transcript|ENST00000469412|processed_transcript||1/8|ENST00000469412.1:n.60-26957C>T|||||||||-1||HGNC|11805|||||||||||Ensembl||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353688.1|protein_coding||1/29|NM_001353688.1:c.-706-26957C>T|||||||||-1||EntrezGene|11805|||||NP_001340617.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353689.1|protein_coding||1/28|NM_001353689.1:c.-488-26957C>T|||||||||-1||EntrezGene|11805|||||NP_001340618.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353690.1|protein_coding||1/27|NM_001353690.1:c.-369+67935C>T|||||||||-1||EntrezGene|11805|||||NP_001340619.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353691.1|protein_coding||1/29|NM_001353691.1:c.-517-26957C>T|||||||||-1||EntrezGene|11805|||||NP_001340620.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353692.1|protein_coding||1/27|NM_001353692.1:c.-311-26957C>T|||||||||-1||EntrezGene|11805|||||NP_001340621.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_001353693.1|protein_coding||1/28|NM_001353693.1:c.-421-26957C>T|||||||||-1||EntrezGene|11805|YES||||NP_001340622.1||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||,A|intron_variant|MODIFIER|TIAM1|7074|Transcript|NM_003253.3|protein_coding||1/28|NM_003253.3:c.-421-26957C>T|||||||||-1||EntrezGene|11805|||||NP_003244.2||||||RefSeq||G|G|||||||||||0.421|1.00|||||||||;most_severe_consequence=11805:A|intron_variant;most_severe_pli=1 GT:DP:AD:GQ:PL:RNC 0/0:0:0,0:1:0,0,0:.. 1/1:2:0,2:3:0,14,0:.. 0/0:0:0,0:1:0,0,0:..