CHROM POS ID REF ALT QUAL FILTER BaseQRankSum ClippingRankSum ExcessHet FS MQ MQRankSum QD ReadPosRankSum SOR VQSLOD DP AF MLEAC MLEAF dbNSFP_FATHMM_converted_rankscore dbNSFP_FATHMM_pred dbNSFP_FATHMM_score dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_MutationTaster_AAE dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_model dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_PROVEAN_converted_rankscore dbNSFP_PROVEAN_pred dbNSFP_PROVEAN_score dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score AN AC CLNSIG dbNSFP_clinvar_clnsig dbNSFP_gnomAD_exomes_AF dbNSFP_gnomAD_genomes_AF ANN TYPE NA12878v2-SC1.AD NA12878v2-SC1.GT NA12878v2-SC1.DP NA12878v2-SC1.PGT NA12878v2-SC1.PID NA12878v2-SC1.PL NA12878v2-SC2.AD NA12878v2-SC2.GT NA12878v2-SC2.DP NA12878v2-SC2.PGT NA12878v2-SC2.PID NA12878v2-SC2.PL NA12878v2-SC3.AD NA12878v2-SC3.GT NA12878v2-SC3.DP NA12878v2-SC3.PGT NA12878v2-SC3.PID NA12878v2-SC3.PL chr1 946247 rs2272757;COSV58986455 G A 172.2 PASS NA NA 3.0103 0 60 NA 28.7 NA 0.693 NA 6 1 2 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 2 NA NA NA NA A|synonymous_variant|LOW|NOC2L|ENSG00000188976|transcript|ENST00000327044.7|protein_coding|16/19|c.1843C>T|p.Leu615Leu|1859/2757|1843/2250|615/749||,A|downstream_gene_variant|MODIFIER|SAMD11|ENSG00000187634|transcript|ENST00000622503.4|protein_coding||c.*2094G>A|||||1666| SNP NA ./. NA NA NA NA 0,6 A/A 6 NA NA 173,18,0 NA ./. NA NA NA NA chr1 1054900 rs4275402;128319;COSV65070964 C T 328.14 PASS NA NA 3.0103 0 60 NA 36.46 NA 3.056 NA 9 1 2 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 2 Benign NA NA NA T|synonymous_variant|LOW|AGRN|ENSG00000188157|transcript|ENST00000379370.7|protein_coding|36/36|c.6057C>T|p.Asp2019Asp|6110/7326|6057/6138|2019/2045||,T|upstream_gene_variant|MODIFIER|AL645608.5|ENSG00000242590|transcript|ENST00000418300.1|pseudogene||n.-133C>T|||||133| SNP 0,9 T/T 9 NA NA 329,25,0 NA ./. NA NA NA NA NA ./. NA NA NA NA chr1 1223251 rs6603781;COSV55420653 A G 299.15 PASS NA NA 3.0103 0 60 NA 41.7 NA 1.329 NA 14 1 2 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 4 NA NA NA NA G|synonymous_variant|LOW|SDF4|ENSG00000078808|transcript|ENST00000655486.1|protein_coding|3/6|c.570T>C|p.Asp190Asp|570/1089|570/1089|190/362|| SNP 0,8 G/G 8 NA NA 300,24,0 0,6 G/G 6 NA NA 251,18,0 NA ./. NA NA NA NA chr1 1319461 rs10907179 C G 594.13 PASS NA NA 3.0103 0 60 NA 34.95 NA 1.061 NA 17 1 2 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 2 NA NA NA NA G|synonymous_variant|LOW|INTS11|ENSG00000127054|transcript|ENST00000540437.5|protein_coding|6/19|c.282G>C|p.Gly94Gly|816/2629|282/1821|94/606||,G|upstream_gene_variant|MODIFIER|AL139287.1|ENSG00000240731|transcript|ENST00000444968.1|pseudogene||n.-772G>C|||||772| SNP NA ./. NA NA NA NA 0,17 G/G 17 NA NA 595,51,0 NA ./. NA NA NA NA chr1 1616547 rs7418389;COSV61756871 T C 253.15 PASS NA NA 3.0103 0 60 NA 31.64 NA 1.179 NA 8 1 2 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2 2 NA NA NA NA C|missense_variant|MODERATE|MIB2|ENSG00000197530|transcript|ENST00000505820.6|protein_coding|2/20|c.214T>C|p.Phe72Leu|231/3305|214/3213|72/1070||,C|upstream_gene_variant|MODIFIER|AL691432.2|ENSG00000272106|transcript|ENST00000607222.1|pseudogene||n.-752A>G|||||752| SNP NA ./. NA NA NA NA 0,8 C/C 8 NA NA 254,24,0 NA ./. NA NA NA NA chr1 1645163 . T C 481.13 PASS -0 -0 3.0103 0 11.47 -0.792 9.87 1.465 1.893 NA 86 1 2 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6 6 NA NA NA NA C|synonymous_variant|LOW|CDK11B|ENSG00000248333|transcript|ENST00000407249.7|protein_coding|6/20|c.594A>G|p.Ala198Ala|706/2677|594/2388|198/795|| SNP 0,39 C/C 39 NA NA 482,103,0 0,24 C/C 24 NA NA 245,62,0 1,21 C/C 22 NA NA 218,43,0 chr1 1668373 rs12729295;COSV52359711 C T 221.13 PASS 1.92 0 3.0103 0 31.98 0.769 7.46 -0.379 0.864 NA 76 0.5 1 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4 2 NA NA NA NA T|missense_variant|MODERATE|SLC35E2B|ENSG00000189339|transcript|ENST00000611123.1|protein_coding|8/9|c.934G>A|p.Val312Ile|1361/5948|934/1218|312/405||,T|upstream_gene_variant|MODIFIER|AL691432.1|ENSG00000269737|transcript|ENST00000596308.1|processed_transcript||n.-3617C>T|||||3617| SNP 39,11 C/T 50 NA NA 222,0,972 17,7 C/T 24 NA NA 180,0,329 NA ./. NA NA NA NA chr1 1668449 rs2072923;COSV52359728 A G 866.13 PASS 2.304 0 3.0103 5.988 33.19 1.886 13.49 0.408 1.316 NA 106 0.5 1 0.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6 4 NA NA NA NA G|synonymous_variant|LOW|SLC35E2B|ENSG00000189339|transcript|ENST00000611123.1|protein_coding|8/9|c.858T>C|p.Ser286Ser|1285/5948|858/1218|286/405||,G|upstream_gene_variant|MODIFIER|AL691432.1|ENSG00000269737|transcript|ENST00000596308.1|processed_transcript||n.-3541A>G|||||3541| SNP 20,33 G/G 53 NA NA 867,0,388 11,12 A/G 23 NA NA 325,0,177 15,12 A/G 27 NA NA 365,0,314 chr1 1719368 rs1137005;COSV62266017 T C 1234.13 PASS NA NA 3.0103 0 60 NA 40.59 NA 1.292 NA 64 1 2 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6 6 NA NA NA NA C|synonymous_variant|LOW|CDK11A|ENSG00000008128|transcript|ENST00000378633.5|protein_coding|4/20|c.315A>G|p.Arg105Arg|395/2458|315/2352|105/783||,C|non_coding_transcript_exon_variant|MODIFIER|AL031282.2|ENSG00000268575|transcript|ENST00000598846.1|pseudogene|5/20|n.3079A>G|||||| SNP 0,29 C/C 29 0|1 1719368_T_C 1235,87,0 0,16 C/C 16 0|1 1719368_T_C 645,48,0 0,19 C/C 19 0|1 1719368_T_C 772,57,0