WARNING: While bind mounting '/mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21:/mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21': destination is already in the mount point list [COMMAND] /opt/bin/run_clairs --tumor_bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --normal_bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --threads 40 --platform ont_r10_dorado_sup_5khz_ssrs --output_dir /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21 --region chr2:113845112-242696752 --sample_name CHAHA_diag --include_all_ctgs --print_germline_calls --enable_indel_calling --enable_clair3_germline_output --use_longphase_for_intermediate_haplotagging True [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/split_beds [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/candidates [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/pileup_tensor_can [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/fa_tensor_can [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/vcf_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/tmp_vcf_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/phased_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/vcf [INFO] --include_all_ctgs enabled [INFO] Call variants in contigs: chr2 [INFO] Number of chunks for each contig: 49 [INFO] CALLER VERSION: 0.4.4 [INFO] NORMAL BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam [INFO] TUMOR BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa [INFO] PLATFORM: ont_r10_dorado_sup_5khz_ssrs [INFO] THREADS: 40 [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21 [INFO] OUTPUT VCF PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/output.vcf.gz [INFO] PILEUP MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/pileup.pkl [INFO] FULL-ALIGNMENT MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/full_alignment.pkl [INFO] BED FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/region.bed [INFO] GENOTYPING MODE VCF FILE PATH: None [INFO] HYBRID MODE VCF FILE PATH: None [INFO] REGION FOR CALLING: chr2:113845112-242696752 [INFO] CONTIGS FOR CALLING: None [INFO] CONDA BINARY PREFIX: /opt/conda/envs/clairs [INFO] SAMTOOLS BINARY PATH: samtools [INFO] PYTHON BINARY PATH: python3 [INFO] PYPY BINARY PATH: pypy3 [INFO] PARALLEL BINARY PATH: parallel [INFO] LONGPHASE BINARY PATH: /opt/conda/envs/clairs/bin/longphase [INFO] CHUNK SIZE: 5000000 [INFO] SNV MINIMUM AF: 0.05 [INFO] SNV MINIMUM QUAL: 8 [INFO] INDEL MINIMUM AF: 0.1 [INFO] INDEL PILEUP MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/indel/pileup.pkl [INFO] INDEL FULL-ALIGNMENT MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/indel/full_alignment.pkl [INFO] INDEL MINIMUM QUAL: 8 [INFO] NORMAL VCF FILE PATH: None [INFO] DISABLE PHASING: False [INFO] ENABLE DRY RUN: False [INFO] ENABLE INDEL CALLING: True [INFO] ENABLE PRINTING REFERENCE CALLS: False [INFO] ENABLE PRINTING GERMLINE CALLS: True [INFO] ENABLE INCLUDING ALL CTGS FOR CALLING: True [INFO] ENABLE REMOVING INTERMEDIATE FILES: False [INFO] Call Germline Variants in Normal BAM using Clair3 [INFO] RUN THE FOLLOWING COMMAND: ( /opt/conda/envs/clairs/bin/run_clair3.sh --bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --model_path /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 --platform ont --threads 40 --output /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output --ctg_name=chr2 --samtools=samtools --pypy=pypy3 --python=python3 --min_coverage=4 --snp_min_af=0.08 --indel_min_af=0.15 --longphase_for_phasing ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log/1_CLAIR3_NORMAL.log [INFO] CLAIR3 VERSION: v1.0.8 [INFO] BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa [INFO] MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output [INFO] PLATFORM: ont [INFO] THREADS: 40 [INFO] BED FILE PATH: EMPTY [INFO] VCF FILE PATH: EMPTY [INFO] CONTIGS: chr2 [INFO] CONDA PREFIX: [INFO] SAMTOOLS PATH: samtools [INFO] PYTHON PATH: python3 [INFO] PYPY PATH: pypy3 [INFO] PARALLEL PATH: parallel [INFO] WHATSHAP PATH: whatshap [INFO] LONGPHASE PATH: /opt/conda/envs/clairs/bin/longphase [INFO] CHUNK SIZE: 5000000 [INFO] FULL ALIGN PROPORTION: 0.7 [INFO] FULL ALIGN REFERENCE PROPORTION: 0.1 [INFO] PHASING PROPORTION: 0.7 [INFO] MINIMUM MQ: 5 [INFO] MINIMUM COVERAGE: 4 [INFO] SNP AF THRESHOLD: 0.08 [INFO] INDEL AF THRESHOLD: 0.15 [INFO] BASE ERROR IN GVCF: 0.001 [INFO] GQ BIN SIZE IN GVCF: 5 [INFO] ENABLE FILEUP ONLY CALLING: False [INFO] ENABLE FAST MODE CALLING: False [INFO] ENABLE CALLING SNP CANDIDATES ONLY: False [INFO] ENABLE PRINTING REFERENCE CALLS: False [INFO] ENABLE OUTPUT GVCF: False [INFO] ENABLE HAPLOID PRECISE MODE: False [INFO] ENABLE HAPLOID SENSITIVE MODE: False [INFO] ENABLE INCLUDE ALL CTGS CALLING: False [INFO] ENABLE NO PHASING FOR FULL ALIGNMENT: False [INFO] ENABLE REMOVING INTERMEDIATE FILES: False [INFO] ENABLE LONGPHASE FOR INTERMEDIATE VCF PHASING: True [INFO] ENABLE PHASING FINAL VCF OUTPUT USING WHATSHAP: False [INFO] ENABLE PHASING FINAL VCF OUTPUT USING LONGPHASE: False [INFO] ENABLE HAPLOTAGGING FINAL BAM: False [INFO] ENABLE LONG INDEL CALLING: False [INFO] ENABLE C_IMPLEMENT: True + /opt/conda/envs/clairs/bin/scripts/clair3_c_impl.sh --bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --threads 40 --model_path /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 --platform ont --output /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output --bed_fn=EMPTY --vcf_fn=EMPTY --ctg_name=chr2 --sample_name=SAMPLE --chunk_num=0 --chunk_size=5000000 --samtools=samtools --python=python3 --pypy=pypy3 --parallel=parallel --whatshap=whatshap --qual=2 --var_pct_full=0.7 --ref_pct_full=0.1 --var_pct_phasing=0.7 --snp_min_af=0.08 --indel_min_af=0.15 --min_mq=5 --min_coverage=4 --min_contig_size=0 --pileup_only=False --gvcf=False --base_err=0.001 --gq_bin_size=5 --fast_mode=False --call_snp_only=False --print_ref_calls=False --haploid_precise=False --haploid_sensitive=False --include_all_ctgs=False --no_phasing_for_fa=False --pileup_model_prefix=pileup --fa_model_prefix=full_alignment --remove_intermediate_dir=False --enable_phasing=False --enable_long_indel=False --keep_iupac_bases=False --use_gpu=False --longphase_for_phasing=True --longphase=/opt/conda/envs/clairs/bin/longphase --use_whatshap_for_intermediate_phasing=True --use_longphase_for_intermediate_phasing=True --use_whatshap_for_final_output_phasing=False --use_longphase_for_final_output_phasing=False --use_whatshap_for_final_output_haplotagging=False [INFO] Check environment variables [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/log [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/pileup_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/merge_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/phase_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/gvcf_tmp_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/full_alignment_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_bam [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/full_alignment_output/candidate_bed [INFO] Call variant in contigs: chr2 [INFO] Chunk number for each contig: 49 [INFO] 1/7 Call variants using pileup model Calling variants ... Total processed positions in chr2 (chunk 11/49) : 74661 Total time elapsed: 146.96 s Calling variants ... Total processed positions in chr2 (chunk 28/49) : 75612 Total time elapsed: 147.58 s Calling variants ... Total processed positions in chr2 (chunk 17/49) : 71352 Total time elapsed: 152.76 s Calling variants ... Total processed positions in chr2 (chunk 29/49) : 76038 Total time elapsed: 154.24 s Calling variants ... Total processed positions in chr2 (chunk 13/49) : 75269 Total time elapsed: 157.54 s Calling variants ... Total processed positions in chr2 (chunk 23/49) : 82668 Total time elapsed: 159.10 s Calling variants ... Total processed positions in chr2 (chunk 8/49) : 80441 Total time elapsed: 159.55 s Calling variants ... Total processed positions in chr2 (chunk 12/49) : 82008 Total time elapsed: 161.83 s Calling variants ... Total processed positions in chr2 (chunk 9/49) : 81596 Total time elapsed: 165.37 s Calling variants ... Total processed positions in chr2 (chunk 1/49) : 80838 Total time elapsed: 165.30 s Calling variants ... Total processed positions in chr2 (chunk 20/49) : 75043 Total time elapsed: 166.74 s Calling variants ... Total processed positions in chr2 (chunk 16/49) : 81038 Total time elapsed: 166.96 s Calling variants ... Total processed positions in chr2 (chunk 22/49) : 80277 Total time elapsed: 167.29 s Calling variants ... Total processed positions in chr2 (chunk 3/49) : 86183 Total time elapsed: 167.52 s Calling variants ... Total processed positions in chr2 (chunk 14/49) : 81970 Total time elapsed: 168.25 s Calling variants ... Total processed positions in chr2 (chunk 18/49) : 80235 Total time elapsed: 168.36 s Calling variants ... Total processed positions in chr2 (chunk 7/49) : 88857 Total time elapsed: 169.23 s Calling variants ... Total processed positions in chr2 (chunk 26/49) : 84734 Total time elapsed: 169.91 s Calling variants ... Total processed positions in chr2 (chunk 21/49) : 81835 Total time elapsed: 172.35 s Calling variants ... Total processed positions in chr2 (chunk 10/49) : 82733 Total time elapsed: 172.41 s Calling variants ... Total processed positions in chr2 (chunk 30/49) : 73373 Total time elapsed: 148.13 s Calling variants ... Total processed positions in chr2 (chunk 19/49) : 75283 Total time elapsed: 173.63 s Calling variants ... Total processed positions in chr2 (chunk 2/49) : 84106 Total time elapsed: 174.45 s Calling variants ... Total processed positions in chr2 (chunk 27/49) : 83387 Total time elapsed: 174.70 s Calling variants ... Total processed positions in chr2 (chunk 15/49) : 87963 Total time elapsed: 177.17 s Calling variants ... Total processed positions in chr2 (chunk 6/49) : 79351 Total time elapsed: 156.14 s Calling variants ... Total processed positions in chr2 (chunk 24/49) : 79088 Total time elapsed: 156.95 s Calling variants ... Total processed positions in chr2 (chunk 4/49) : 83480 Total time elapsed: 159.75 s Calling variants ... Total processed positions in chr2 (chunk 5/49) : 83721 Total time elapsed: 161.86 s Calling variants ... Total processed positions in chr2 (chunk 25/49) : 84883 Total time elapsed: 165.15 s Calling variants ... Total processed positions in chr2 (chunk 31/49) : 73402 Total time elapsed: 119.56 s Calling variants ... Total processed positions in chr2 (chunk 32/49) : 71337 Total time elapsed: 128.49 s Calling variants ... Total processed positions in chr2 (chunk 34/49) : 79400 Total time elapsed: 128.35 s Calling variants ... Total processed positions in chr2 (chunk 38/49) : 73991 Total time elapsed: 124.13 s Calling variants ... Total processed positions in chr2 (chunk 33/49) : 82305 Total time elapsed: 132.36 s Calling variants ... Total processed positions in chr2 (chunk 37/49) : 75613 Total time elapsed: 127.08 s Calling variants ... Total processed positions in chr2 (chunk 42/49) : 75734 Total time elapsed: 121.55 s Calling variants ... Total processed positions in chr2 (chunk 40/49) : 70806 Total time elapsed: 124.40 s Calling variants ... Total processed positions in chr2 (chunk 47/49) : 74017 Total time elapsed: 125.68 s Calling variants ... Total processed positions in chr2 (chunk 44/49) : 75892 Total time elapsed: 129.30 s Calling variants ... Total processed positions in chr2 (chunk 39/49) : 79011 Total time elapsed: 132.08 s Calling variants ... Total processed positions in chr2 (chunk 46/49) : 81534 Total time elapsed: 130.11 s Calling variants ... Total processed positions in chr2 (chunk 41/49) : 80990 Total time elapsed: 133.01 s Calling variants ... Total processed positions in chr2 (chunk 43/49) : 78010 Total time elapsed: 133.53 s Calling variants ... Total processed positions in chr2 (chunk 35/49) : 84506 Total time elapsed: 143.31 s Calling variants ... Total processed positions in chr2 (chunk 36/49) : 84088 Total time elapsed: 142.80 s Calling variants ... Total processed positions in chr2 (chunk 45/49) : 86558 Total time elapsed: 140.02 s Calling variants ... Total processed positions in chr2 (chunk 48/49) : 83848 Total time elapsed: 139.39 s Calling variants ... Total processed positions in chr2 (chunk 49/49) : 92842 Total time elapsed: 143.71 s real 5m27.391s user 116m19.862s sys 8m3.215s [INFO] 2/7 Select heterozygous SNP variants for Whatshap phasing and haplotagging [INFO] Select heterozygous pileup variants exceeding phasing quality cutoff 16 [INFO] Total heterozygous SNP positions selected: chr2: 150142 real 0m8.783s user 0m8.442s sys 0m0.241s [INFO] 3/7 Phase VCF file using LongPhase LongPhase Ver 1.7 --- File Parameter --- SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf/chr2.vcf SV File : MOD File : REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf/phased_chr2 Generate Dot : False BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam --- Phasing Parameter --- Seq Platform : ONT Phase Indel : False Distance Threshold : 300000 Connect Adjacent : 20 Edge Threshold : 0.7 Mapping Quality : 1 Variant Confidence : 0.75 ReadTag Confidence : 0.65 parsing VCF ... 0s parsing SV VCF ... 0s parsing Meth VCF ... 0s reading reference ... 3s (chr2,17s) parsing total: 17s merge results ... 0s writeResult SNP ... 1s total process: 21s real 0m21.566s user 0m40.677s sys 0m2.645s [INFO] 5/7 Select candidates for full-alignment calling [INFO] Set variants quality cutoff 20.0 [INFO] Set reference calls quality cutoff 14.0 [INFO] Low quality reference calls to be processed in chr2: 351297 [INFO] Low quality variants to be processed in chr2: 282859 real 0m9.508s user 0m8.948s sys 0m0.404s [INFO] 6/7 Call low-quality variants using full-alignment model Calling variants ... Total processed positions in chr2 (chunk 11/64) : 10000 Total time elapsed: 89.29 s Calling variants ... Total processed positions in chr2 (chunk 25/64) : 10000 Total time elapsed: 98.33 s Calling variants ... Total processed positions in chr2 (chunk 4/64) : 10000 Total time elapsed: 98.40 s Calling variants ... Total processed positions in chr2 (chunk 29/64) : 10000 Total time elapsed: 98.52 s Calling variants ... Total processed positions in chr2 (chunk 30/64) : 10000 Total time elapsed: 99.14 s Calling variants ... Total processed positions in chr2 (chunk 20/64) : 10000 Total time elapsed: 99.39 s Calling variants ... Total processed positions in chr2 (chunk 24/64) : 10000 Total time elapsed: 99.60 s Calling variants ... Total processed positions in chr2 (chunk 9/64) : 10000 Total time elapsed: 100.06 s Calling variants ... Total processed positions in chr2 (chunk 19/64) : 10000 Total time elapsed: 99.91 s Calling variants ... Total processed positions in chr2 (chunk 21/64) : 10000 Total time elapsed: 99.82 s Calling variants ... Total processed positions in chr2 (chunk 13/64) : 10000 Total time elapsed: 101.13 s Calling variants ... Total processed positions in chr2 (chunk 28/64) : 10000 Total time elapsed: 102.62 s Calling variants ... Total processed positions in chr2 (chunk 22/64) : 10000 Total time elapsed: 102.59 s Calling variants ... Total processed positions in chr2 (chunk 26/64) : 10000 Total time elapsed: 103.18 s Calling variants ... Total processed positions in chr2 (chunk 23/64) : 10000 Total time elapsed: 103.44 s Calling variants ... Total processed positions in chr2 (chunk 3/64) : 10000 Total time elapsed: 104.47 s Calling variants ... Total processed positions in chr2 (chunk 14/64) : 10000 Total time elapsed: 104.76 s Calling variants ... Total processed positions in chr2 (chunk 17/64) : 10000 Total time elapsed: 105.01 s Calling variants ... Total processed positions in chr2 (chunk 7/64) : 10000 Total time elapsed: 106.31 s Calling variants ... Total processed positions in chr2 (chunk 12/64) : 10000 Total time elapsed: 106.32 s Calling variants ... Total processed positions in chr2 (chunk 6/64) : 10000 Total time elapsed: 106.79 s Calling variants ... Total processed positions in chr2 (chunk 8/64) : 10000 Total time elapsed: 107.08 s Calling variants ... Total processed positions in chr2 (chunk 10/64) : 10000 Total time elapsed: 107.08 s Calling variants ... Total processed positions in chr2 (chunk 18/64) : 10000 Total time elapsed: 107.54 s Calling variants ... Total processed positions in chr2 (chunk 16/64) : 10000 Total time elapsed: 108.15 s Calling variants ... Total processed positions in chr2 (chunk 27/64) : 10000 Total time elapsed: 108.69 s Calling variants ... Total processed positions in chr2 (chunk 5/64) : 10000 Total time elapsed: 109.37 s Calling variants ... Total processed positions in chr2 (chunk 15/64) : 10000 Total time elapsed: 109.37 s Calling variants ... Total processed positions in chr2 (chunk 2/64) : 10000 Total time elapsed: 111.80 s Calling variants ... Total processed positions in chr2 (chunk 1/64) : 10000 Total time elapsed: 113.45 s Calling variants ... Total processed positions in chr2 (chunk 38/64) : 10000 Total time elapsed: 97.28 s Calling variants ... Total processed positions in chr2 (chunk 31/64) : 10000 Total time elapsed: 108.49 s Calling variants ... Total processed positions in chr2 (chunk 32/64) : 10000 Total time elapsed: 100.43 s Calling variants ... Total processed positions in chr2 (chunk 53/64) : 10000 Total time elapsed: 92.84 s Calling variants ... Total processed positions in chr2 (chunk 35/64) : 10000 Total time elapsed: 101.58 s Calling variants ... Total processed positions in chr2 (chunk 41/64) : 10000 Total time elapsed: 99.16 s Calling variants ... Total processed positions in chr2 (chunk 34/64) : 10000 Total time elapsed: 101.67 s Calling variants ... Total processed positions in chr2 (chunk 33/64) : 10000 Total time elapsed: 105.70 s Calling variants ... Total processed positions in chr2 (chunk 46/64) : 10000 Total time elapsed: 101.46 s Calling variants ... Total processed positions in chr2 (chunk 45/64) : 10000 Total time elapsed: 102.47 s Calling variants ... Total processed positions in chr2 (chunk 36/64) : 10000 Total time elapsed: 106.03 s Calling variants ... Total processed positions in chr2 (chunk 39/64) : 10000 Total time elapsed: 106.59 s Calling variants ... Total processed positions in chr2 (chunk 37/64) : 10000 Total time elapsed: 107.47 s Calling variants ... Total processed positions in chr2 (chunk 48/64) : 10000 Total time elapsed: 102.60 s Calling variants ... Total processed positions in chr2 (chunk 47/64) : 10000 Total time elapsed: 102.92 s Calling variants ... Total processed positions in chr2 (chunk 40/64) : 10000 Total time elapsed: 107.45 s Calling variants ... Total processed positions in chr2 (chunk 42/64) : 10000 Total time elapsed: 105.14 s Calling variants ... Total processed positions in chr2 (chunk 54/64) : 10000 Total time elapsed: 100.39 s Calling variants ... Total processed positions in chr2 (chunk 44/64) : 10000 Total time elapsed: 105.13 s Calling variants ... Total processed positions in chr2 (chunk 43/64) : 10000 Total time elapsed: 106.30 s Calling variants ... Total processed positions in chr2 (chunk 57/64) : 10000 Total time elapsed: 99.89 s Calling variants ... Total processed positions in chr2 (chunk 52/64) : 10000 Total time elapsed: 102.98 s Calling variants ... Total processed positions in chr2 (chunk 50/64) : 10000 Total time elapsed: 103.62 s Calling variants ... Total processed positions in chr2 (chunk 55/64) : 10000 Total time elapsed: 102.01 s Calling variants ... Total processed positions in chr2 (chunk 56/64) : 10000 Total time elapsed: 105.40 s Calling variants ... Total processed positions in chr2 (chunk 59/64) : 10000 Total time elapsed: 102.12 s Calling variants ... Total processed positions in chr2 (chunk 58/64) : 10000 Total time elapsed: 105.47 s Calling variants ... Total processed positions in chr2 (chunk 51/64) : 10000 Total time elapsed: 109.28 s Calling variants ... Total processed positions in chr2 (chunk 49/64) : 10000 Total time elapsed: 110.23 s Calling variants ... Total processed positions in chr2 (chunk 60/64) : 10000 Total time elapsed: 103.25 s Calling variants ... Total processed positions in chr2 (chunk 64/64) : 4156 Total time elapsed: 35.72 s Calling variants ... Total processed positions in chr2 (chunk 61/64) : 10000 Total time elapsed: 72.73 s Calling variants ... Total processed positions in chr2 (chunk 62/64) : 10000 Total time elapsed: 75.62 s Calling variants ... Total processed positions in chr2 (chunk 63/64) : 10000 Total time elapsed: 76.10 s real 4m46.439s user 104m13.888s sys 6m17.660s [INFO] 7/7 Merge pileup VCF and full-alignment VCF [INFO] Pileup variants processed in chr2: 121260 [INFO] Full-alignment variants processed in chr2: 298027 real 0m11.649s user 0m12.884s sys 0m0.395s [INFO] Finish calling, output file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/merge_output.vcf.gz real 11m51.527s user 222m28.836s sys 14m27.506s [INFO] Call Germline Variant in Tumor BAM using Clair3 [INFO] RUN THE FOLLOWING COMMAND: ( /opt/conda/envs/clairs/bin/run_clair3.sh --bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --model_path /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 --platform ont --threads 40 --output /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output --ctg_name=chr2 --samtools=samtools --pypy=pypy3 --python=python3 --min_coverage=4 --snp_min_af=0.08 --indel_min_af=0.15 --longphase_for_phasing ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log/2_CLAIR3_TUMOR.log [INFO] CLAIR3 VERSION: v1.0.8 [INFO] BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa [INFO] MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output [INFO] PLATFORM: ont [INFO] THREADS: 40 [INFO] BED FILE PATH: EMPTY [INFO] VCF FILE PATH: EMPTY [INFO] CONTIGS: chr2 [INFO] CONDA PREFIX: [INFO] SAMTOOLS PATH: samtools [INFO] PYTHON PATH: python3 [INFO] PYPY PATH: pypy3 [INFO] PARALLEL PATH: parallel [INFO] WHATSHAP PATH: whatshap [INFO] LONGPHASE PATH: /opt/conda/envs/clairs/bin/longphase [INFO] CHUNK SIZE: 5000000 [INFO] FULL ALIGN PROPORTION: 0.7 [INFO] FULL ALIGN REFERENCE PROPORTION: 0.1 [INFO] PHASING PROPORTION: 0.7 [INFO] MINIMUM MQ: 5 [INFO] MINIMUM COVERAGE: 4 [INFO] SNP AF THRESHOLD: 0.08 [INFO] INDEL AF THRESHOLD: 0.15 [INFO] BASE ERROR IN GVCF: 0.001 [INFO] GQ BIN SIZE IN GVCF: 5 [INFO] ENABLE FILEUP ONLY CALLING: False [INFO] ENABLE FAST MODE CALLING: False [INFO] ENABLE CALLING SNP CANDIDATES ONLY: False [INFO] ENABLE PRINTING REFERENCE CALLS: False [INFO] ENABLE OUTPUT GVCF: False [INFO] ENABLE HAPLOID PRECISE MODE: False [INFO] ENABLE HAPLOID SENSITIVE MODE: False [INFO] ENABLE INCLUDE ALL CTGS CALLING: False [INFO] ENABLE NO PHASING FOR FULL ALIGNMENT: False [INFO] ENABLE REMOVING INTERMEDIATE FILES: False [INFO] ENABLE LONGPHASE FOR INTERMEDIATE VCF PHASING: True [INFO] ENABLE PHASING FINAL VCF OUTPUT USING WHATSHAP: False [INFO] ENABLE PHASING FINAL VCF OUTPUT USING LONGPHASE: False [INFO] ENABLE HAPLOTAGGING FINAL BAM: False [INFO] ENABLE LONG INDEL CALLING: False [INFO] ENABLE C_IMPLEMENT: True + /opt/conda/envs/clairs/bin/scripts/clair3_c_impl.sh --bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --threads 40 --model_path /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 --platform ont --output /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output --bed_fn=EMPTY --vcf_fn=EMPTY --ctg_name=chr2 --sample_name=SAMPLE --chunk_num=0 --chunk_size=5000000 --samtools=samtools --python=python3 --pypy=pypy3 --parallel=parallel --whatshap=whatshap --qual=2 --var_pct_full=0.7 --ref_pct_full=0.1 --var_pct_phasing=0.7 --snp_min_af=0.08 --indel_min_af=0.15 --min_mq=5 --min_coverage=4 --min_contig_size=0 --pileup_only=False --gvcf=False --base_err=0.001 --gq_bin_size=5 --fast_mode=False --call_snp_only=False --print_ref_calls=False --haploid_precise=False --haploid_sensitive=False --include_all_ctgs=False --no_phasing_for_fa=False --pileup_model_prefix=pileup --fa_model_prefix=full_alignment --remove_intermediate_dir=False --enable_phasing=False --enable_long_indel=False --keep_iupac_bases=False --use_gpu=False --longphase_for_phasing=True --longphase=/opt/conda/envs/clairs/bin/longphase --use_whatshap_for_intermediate_phasing=True --use_longphase_for_intermediate_phasing=True --use_whatshap_for_final_output_phasing=False --use_longphase_for_final_output_phasing=False --use_whatshap_for_final_output_haplotagging=False [INFO] Check environment variables [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/log [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/pileup_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/merge_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/phase_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/gvcf_tmp_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/full_alignment_output [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_bam [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/full_alignment_output/candidate_bed [INFO] Call variant in contigs: chr2 [INFO] Chunk number for each contig: 49 [INFO] 1/7 Call variants using pileup model Calling variants ... Total processed positions in chr2 (chunk 30/49) : 6472 Total time elapsed: 133.58 s Calling variants ... Total processed positions in chr2 (chunk 28/49) : 7473 Total time elapsed: 134.50 s Calling variants ... Total processed positions in chr2 (chunk 5/49) : 8455 Total time elapsed: 136.84 s Calling variants ... Total processed positions in chr2 (chunk 23/49) : 8909 Total time elapsed: 137.22 s Calling variants ... Total processed positions in chr2 (chunk 24/49) : 9129 Total time elapsed: 138.77 s Calling variants ... Total processed positions in chr2 (chunk 7/49) : 11591 Total time elapsed: 140.48 s Calling variants ... Total processed positions in chr2 (chunk 25/49) : 10438 Total time elapsed: 140.48 s Calling variants ... Total processed positions in chr2 (chunk 16/49) : 11769 Total time elapsed: 142.03 s Calling variants ... Total processed positions in chr2 (chunk 11/49) : 11806 Total time elapsed: 142.04 s Calling variants ... Total processed positions in chr2 (chunk 26/49) : 11900 Total time elapsed: 142.40 s Calling variants ... Total processed positions in chr2 (chunk 15/49) : 11490 Total time elapsed: 142.16 s Calling variants ... Total processed positions in chr2 (chunk 18/49) : 11980 Total time elapsed: 142.61 s Calling variants ... Total processed positions in chr2 (chunk 8/49) : 13128 Total time elapsed: 143.45 s Calling variants ... Total processed positions in chr2 (chunk 27/49) : 14692 Total time elapsed: 144.85 s Calling variants ... Total processed positions in chr2 (chunk 1/49) : 15284 Total time elapsed: 146.08 s Calling variants ... Total processed positions in chr2 (chunk 3/49) : 13938 Total time elapsed: 146.00 s Calling variants ... Total processed positions in chr2 (chunk 20/49) : 24047 Total time elapsed: 157.30 s Calling variants ... Total processed positions in chr2 (chunk 17/49) : 7627 Total time elapsed: 59.33 s Calling variants ... Total processed positions in chr2 (chunk 21/49) : 9171 Total time elapsed: 60.12 s Calling variants ... Total processed positions in chr2 (chunk 2/49) : 10653 Total time elapsed: 62.70 s Calling variants ... Total processed positions in chr2 (chunk 4/49) : 10602 Total time elapsed: 63.56 s Calling variants ... Total processed positions in chr2 (chunk 13/49) : 10312 Total time elapsed: 63.57 s Calling variants ... Total processed positions in chr2 (chunk 29/49) : 10495 Total time elapsed: 63.77 s Calling variants ... Total processed positions in chr2 (chunk 12/49) : 12287 Total time elapsed: 65.11 s Calling variants ... Total processed positions in chr2 (chunk 10/49) : 12602 Total time elapsed: 65.76 s Calling variants ... Total processed positions in chr2 (chunk 31/49) : 7977 Total time elapsed: 54.46 s Calling variants ... Total processed positions in chr2 (chunk 32/49) : 8410 Total time elapsed: 54.90 s Calling variants ... Total processed positions in chr2 (chunk 39/49) : 7943 Total time elapsed: 57.35 s Calling variants ... Total processed positions in chr2 (chunk 35/49) : 11348 Total time elapsed: 60.67 s Calling variants ... Total processed positions in chr2 (chunk 37/49) : 9564 Total time elapsed: 59.96 s Calling variants ... Total processed positions in chr2 (chunk 40/49) : 8407 Total time elapsed: 58.77 s Calling variants ... Total processed positions in chr2 (chunk 38/49) : 8387 Total time elapsed: 58.73 s Calling variants ... Total processed positions in chr2 (chunk 36/49) : 9813 Total time elapsed: 61.02 s Calling variants ... Total processed positions in chr2 (chunk 43/49) : 9185 Total time elapsed: 58.58 s Calling variants ... Total processed positions in chr2 (chunk 42/49) : 9050 Total time elapsed: 60.16 s Calling variants ... Total processed positions in chr2 (chunk 44/49) : 8253 Total time elapsed: 58.38 s Calling variants ... Total processed positions in chr2 (chunk 41/49) : 9364 Total time elapsed: 61.60 s Calling variants ... Total processed positions in chr2 (chunk 45/49) : 9880 Total time elapsed: 59.25 s Calling variants ... Total processed positions in chr2 (chunk 46/49) : 10647 Total time elapsed: 59.30 s Calling variants ... Total processed positions in chr2 (chunk 6/49) : 9236 Total time elapsed: 49.48 s Calling variants ... Total processed positions in chr2 (chunk 22/49) : 9821 Total time elapsed: 51.70 s Calling variants ... Total processed positions in chr2 (chunk 9/49) : 10082 Total time elapsed: 51.89 s Calling variants ... Total processed positions in chr2 (chunk 14/49) : 12324 Total time elapsed: 53.35 s Calling variants ... Total processed positions in chr2 (chunk 47/49) : 11754 Total time elapsed: 54.64 s Calling variants ... Total processed positions in chr2 (chunk 19/49) : 64666 Total time elapsed: 224.30 s Calling variants ... Total processed positions in chr2 (chunk 33/49) : 10165 Total time elapsed: 45.64 s Calling variants ... Total processed positions in chr2 (chunk 34/49) : 10438 Total time elapsed: 47.55 s Calling variants ... Total processed positions in chr2 (chunk 48/49) : 12378 Total time elapsed: 48.60 s Calling variants ... Total processed positions in chr2 (chunk 49/49) : 16414 Total time elapsed: 52.81 s real 4m2.239s user 42m58.746s sys 36m7.828s [INFO] 2/7 Select heterozygous SNP variants for Whatshap phasing and haplotagging [INFO] Select heterozygous pileup variants exceeding phasing quality cutoff 20 [INFO] Total heterozygous SNP positions selected: chr2: 154655 real 0m2.357s user 0m2.095s sys 0m0.189s [INFO] 3/7 Phase VCF file using LongPhase LongPhase Ver 1.7 --- File Parameter --- SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf/chr2.vcf SV File : MOD File : REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf/phased_chr2 Generate Dot : False BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --- Phasing Parameter --- Seq Platform : ONT Phase Indel : False Distance Threshold : 300000 Connect Adjacent : 20 Edge Threshold : 0.7 Mapping Quality : 1 Variant Confidence : 0.75 ReadTag Confidence : 0.65 parsing VCF ... 0s parsing SV VCF ... 0s parsing Meth VCF ... 0s reading reference ... 3s (chr2,66s) parsing total: 66s merge results ... 0s writeResult SNP ... 1s total process: 70s real 1m11.184s user 2m59.151s sys 0m10.796s [INFO] 5/7 Select candidates for full-alignment calling [INFO] Set variants quality cutoff 22.0 [INFO] Set reference calls quality cutoff 7.0 [INFO] Low quality reference calls to be processed in chr2: 18408 [INFO] Low quality variants to be processed in chr2: 277651 real 0m2.246s user 0m1.992s sys 0m0.198s [INFO] 6/7 Call low-quality variants using full-alignment model Calling variants ... Total processed positions in chr2 (chunk 30/30) : 6059 Total time elapsed: 83.49 s Calling variants ... Total processed positions in chr2 (chunk 13/30) : 10000 Total time elapsed: 104.21 s Calling variants ... Total processed positions in chr2 (chunk 14/30) : 10000 Total time elapsed: 127.96 s Calling variants ... Total processed positions in chr2 (chunk 12/30) : 10000 Total time elapsed: 130.89 s Calling variants ... Total processed positions in chr2 (chunk 5/30) : 10000 Total time elapsed: 134.21 s Calling variants ... Total processed positions in chr2 (chunk 10/30) : 10000 Total time elapsed: 136.37 s Calling variants ... Total processed positions in chr2 (chunk 2/30) : 10000 Total time elapsed: 136.44 s Calling variants ... Total processed positions in chr2 (chunk 7/30) : 10000 Total time elapsed: 137.33 s Calling variants ... Total processed positions in chr2 (chunk 6/30) : 10000 Total time elapsed: 137.52 s Calling variants ... Total processed positions in chr2 (chunk 22/30) : 10000 Total time elapsed: 137.75 s Calling variants ... Total processed positions in chr2 (chunk 29/30) : 10000 Total time elapsed: 139.04 s Calling variants ... Total processed positions in chr2 (chunk 25/30) : 10000 Total time elapsed: 140.17 s Calling variants ... Total processed positions in chr2 (chunk 9/30) : 10000 Total time elapsed: 140.75 s Calling variants ... Total processed positions in chr2 (chunk 28/30) : 10000 Total time elapsed: 142.51 s Calling variants ... Total processed positions in chr2 (chunk 27/30) : 10000 Total time elapsed: 143.23 s Calling variants ... Total processed positions in chr2 (chunk 18/30) : 10000 Total time elapsed: 143.82 s Calling variants ... Total processed positions in chr2 (chunk 8/30) : 10000 Total time elapsed: 144.15 s Calling variants ... Total processed positions in chr2 (chunk 3/30) : 10000 Total time elapsed: 145.48 s Calling variants ... Total processed positions in chr2 (chunk 17/30) : 10000 Total time elapsed: 148.69 s Calling variants ... Total processed positions in chr2 (chunk 23/30) : 10000 Total time elapsed: 149.30 s Calling variants ... Total processed positions in chr2 (chunk 19/30) : 10000 Total time elapsed: 149.90 s Calling variants ... Total processed positions in chr2 (chunk 21/30) : 10000 Total time elapsed: 150.16 s Calling variants ... Total processed positions in chr2 (chunk 1/30) : 10000 Total time elapsed: 150.67 s Calling variants ... Total processed positions in chr2 (chunk 24/30) : 10000 Total time elapsed: 152.04 s Calling variants ... Total processed positions in chr2 (chunk 15/30) : 10000 Total time elapsed: 151.80 s Calling variants ... Total processed positions in chr2 (chunk 4/30) : 10000 Total time elapsed: 152.23 s Calling variants ... Total processed positions in chr2 (chunk 26/30) : 10000 Total time elapsed: 153.33 s Calling variants ... Total processed positions in chr2 (chunk 11/30) : 10000 Total time elapsed: 154.04 s Calling variants ... Total processed positions in chr2 (chunk 16/30) : 10000 Total time elapsed: 154.28 s Calling variants ... Total processed positions in chr2 (chunk 20/30) : 10000 Total time elapsed: 156.51 s real 2m40.250s user 63m44.864s sys 3m31.391s [INFO] 7/7 Merge pileup VCF and full-alignment VCF [INFO] Pileup variants processed in chr2: 119513 [INFO] Full-alignment variants processed in chr2: 256477 real 0m4.082s user 0m4.234s sys 0m0.219s [INFO] Finish calling, output file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/merge_output.vcf.gz real 8m16.175s user 110m2.943s sys 39m51.958s [INFO] Select Heterozygous SNP for Phasing [INFO] RUN THE FOLLOWING COMMAND: ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log/parallel_1_select_hetero_snp_for_phasing.log -j 40 pypy3 /opt/bin/clairs.py select_hetero_snp_for_phasing --tumor_vcf_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_tumor_output/merge_output.vcf.gz --normal_vcf_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/clair3_normal_output/merge_output.vcf.gz --output_folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/vcf --ctg_name {1} --use_heterozygous_snp_in_normal_sample_for_intermediate_phasing True :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log/1_select_hetero_snp_for_phasing.log [INFO] Total HET SNP calls selected: chr2: 199643, not found:792, not match:54, low_qual_count:0. Total normal:208641 Total tumor:200489, pro: 0.9958 [INFO] Phase the Tumor BAM [INFO] RUN THE FOLLOWING COMMAND: ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log/parallel_4_phase_tumor.log -j 40 /opt/conda/envs/clairs/bin/longphase phase -s /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/vcf/{1}.vcf -b /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam -r /home/t_steimle/ref/hs1/chm13v2.0.fa -t 40 -o /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/phased_output/tumor_phased_{1} --ont :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/CONTIGS && parallel -j 40 bgzip -f /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/phased_output/tumor_phased_{1}.vcf :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log/4_phase_tumor.log && parallel -j 40 tabix -f -p vcf /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/phased_output/tumor_phased_{1}.vcf.gz :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/CONTIGS LongPhase Ver 1.7 --- File Parameter --- SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/vcf/chr2.vcf SV File : MOD File : REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/phased_output/tumor_phased_chr2 Generate Dot : False BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --- Phasing Parameter --- Seq Platform : ONT Phase Indel : False Distance Threshold : 300000 Connect Adjacent : 20 Edge Threshold : 0.7 Mapping Quality : 1 Variant Confidence : 0.75 ReadTag Confidence : 0.65 parsing VCF ... 0s parsing SV VCF ... 0s parsing Meth VCF ... 0s reading reference ... 3s (chr2,85s) parsing total: 85s merge results ... 0s writeResult SNP ... 2s total process: 90s [INFO] Haplotag the Tumor BAM [INFO] RUN THE FOLLOWING COMMAND: ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log/parallel_5_haplotag_tumor.log -j 40 /opt/conda/envs/clairs/bin/longphase haplotag -o /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/phased_output/tumor_{1} --reference /home/t_steimle/ref/hs1/chm13v2.0.fa --region {1} -s /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/phased_output/tumor_phased_{1}.vcf.gz -b /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/logs/clair3_log/5_tumor_haplotag.log && parallel -j 40 samtools index -@40 /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/clair3_output/phased_output/tumor_{1}.bam :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part21/tmp/CONTIGS