chrom start end vcf_id variant_id anno_id ref alt qual filter type sub_type call_rate in_dbsnp rs_ids sv_cipos_start_left sv_cipos_end_left sv_cipos_start_right sv_cipos_end_right sv_length sv_is_precise sv_tool sv_evidence_type sv_event_id sv_mate_id sv_strand in_omim clinvar_sig clinvar_disease_name clinvar_dbsource clinvar_dbsource_id clinvar_origin clinvar_dsdb clinvar_dsdbid clinvar_disease_acc clinvar_in_locus_spec_db clinvar_on_diag_assay clinvar_causal_allele clinvar_gene_phenotype geno2mp_hpo_ct pfam_domain cyto_band rmsk in_cpg_island in_segdup is_conserved gerp_bp_score gerp_element_pval num_hom_ref num_het num_hom_alt num_unknown aaf hwe inbreeding_coeff pi recomb_rate gene transcript is_exonic is_coding is_splicing is_lof exon codon_change aa_change aa_length biotype impact impact_so impact_severity polyphen_pred polyphen_score sift_pred sift_score anc_allele rms_bq cigar depth strand_bias rms_map_qual in_hom_run num_mapq_zero num_alleles num_reads_w_dels haplotype_score qual_depth allele_count allele_bal in_hm2 in_hm3 is_somatic somatic_score in_esp aaf_esp_ea aaf_esp_aa aaf_esp_all exome_chip in_1kg aaf_1kg_amr aaf_1kg_eas aaf_1kg_sas aaf_1kg_afr aaf_1kg_eur aaf_1kg_all grc gms_illumina gms_solid gms_iontorrent in_cse encode_tfbs encode_dnaseI_cell_count encode_dnaseI_cell_list encode_consensus_gm12878 encode_consensus_h1hesc encode_consensus_helas3 encode_consensus_hepg2 encode_consensus_huvec encode_consensus_k562 vista_enhancers cosmic_ids info cadd_raw cadd_scaled fitcons in_exac aaf_exac_all aaf_adj_exac_all aaf_adj_exac_afr aaf_adj_exac_amr aaf_adj_exac_eas aaf_adj_exac_fin aaf_adj_exac_nfe aaf_adj_exac_oth aaf_adj_exac_sas exac_num_het exac_num_hom_alt exac_num_chroms max_aaf_all chr19 617613 617614 None 1 1 G A 49.3272018433 None snp ts 1.0 1 rs41551212 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 1.25 3.47341e-18 2 1 0 0 0.166666666667 0.72903448947 -0.2 0.333333333333 0.584727 POLRMT ENST00000590336 1 1 0 0 4 atC/atT p.Ile92Ile/c.276C>T 141 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 13 None None None None 6 None None None 1 0.600000023842 None None None None 1 0.169651162791 0.0556059918293 0.131016453944 0 1 0.1052 0.005 0.1892 0.028 0.1541 0.0908546 None None None None 0 ERalpha_a_1 9 8988t;Gm19239;Gm19240;Hepatocytes;Ips;Ishikawa_T;MCF7;T47d;Urotsa T unknown unknown T T T None None None -0.69 1.01 0.706548 1 0.133 0.13554400978 0.0567972114005 0.084268677657 0.005112960761 0.160670731707 0.156820088883 0.15632183908 0.190145985401 13314 1326 117792 0.190145985401 chr19 617803 617804 None 2 1 G A 2.41856002808 None snp ts 1.0 1 rs144281668 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 -7.76000022888 4.02199e-22 3 0 0 0 0.0 1 None 0 0.584727 POLRMT ENST00000588649 1 1 0 0 18 caC/caT p.His1156His/c.3468C>T 1230 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 15 None None None None 6 None None None 0 0.0 None None None None 1 0.000116306117702 0.00295186194369 0.00107675742194 0 1 0 0 0 0.0023 0 0.000599042 None None None None 0 None 15 8988t;Chorion;Cll;Gm12891;Gm12892;Gm19239;Gm19240;Hepatocytes;Huh75;Ips;K562;LNCap;Medullo;Myometr;T47d T unknown unknown T T T None None None -1.43 0.02 0.706548 1 0.0003214 0.00032524393295 0.00274133542197 0 0 0 0.000167642038527 0 0 37 1 119910 0.00295186194369 chr19 617958 617959 None 3 20 A C 0.117003001273 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -2.43000006676 None 3 0 0 0 0.0 1 None 0 0.584727 POLRMT ENST00000588649 0 0 0 0 17 c.3423-110T>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 11 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 12 Chorion;Gm12891;HESC;HMEC;Hepatocytes;Huh75;Ips;K562;Medullo;Myometr;Osteobl;hTH1 T unknown unknown T T T None None None 0.06 4.34 0.252514 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 618158 618159 None 4 21 A G 195.324996948 None snp ts 1.0 1 rs11672829 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -0.0414999984205 None 0 0 3 0 1.0 1 None 0 0.584727 POLRMT ENST00000588649 0 0 0 0 17 c.3423-310T>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 9 None None None None 6 None None None 6 0.0 None None None None 0 -1 -1 -1 0 1 0.4006 0.5863 0.7832 0.7383 0.5119 0.624201 None None None None 0 None 11 8988t;A549;Adult_Th0;Gliobla;Gm12891;HESC;HMEC;Huh75;Myometr;Osteobl;T47d T unknown unknown T T T None None None -0.1 3.5 0.252514 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 0.7832 chr19 618427 618428 None 5 21 T G 0.000435377005488 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -4.28999996185 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 17 c.3422+60A>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 23 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 12 Adult_Th0;Cll;Fibrobl;Gliobla;Gm12892;HMEC;Hepatocytes;MCF7;Mcf7Hypoxlac;Myometr;Osteobl;Panisd T unknown unknown T T T None None None 0.23 5.25 0.252514 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 618850 618851 None 6 23 T C 81.7546005249 None snp ts 1.0 1 rs117015462 None None None None None 1 None None None None None None None None None None None None None None None None None None 3 None chr19p13.3 None 1 0 0 0.395999997854 None 2 1 0 0 0.166666666667 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 15 c.3268-91A>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X2M1X 15 None None None None 6 None None None 1 0.555555999279 None None None None 0 -1 -1 -1 0 1 0.0115 0 0.0675 0.0008 0.0288 0.0207668 None None None None 0 None 5 8988t;Gliobla;HMEC;Osteobl;hTH1 T unknown unknown T T T None None None 0.27 5.47 0.099367 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 0.0675 chr19 618853 618854 None 7 23 G A 81.7546005249 None snp ts 1.0 1 rs11668261 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 trf;trf 1 0 0 0.187000006437 None 2 1 0 0 0.166666666667 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 15 c.3268-94C>T 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X2M1X 15 None None None None 6 None None None 1 0.555555999279 None None None None 0 -1 -1 -1 0 1 0.147 0.2401 0.3221 0.1566 0.171 0.207268 None None None None 0 None 5 8988t;Gliobla;HMEC;Osteobl;hTH1 T unknown unknown T T T None None None 0.07 4.36 0.099367 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 0.3221 chr19 618910 618911 None 8 23 T G 0.00120652001351 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 trf;trf 1 0 0 -5.65000009537 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 15 c.3267+86A>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 15 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 5 8988t;Gliobla;HMEC;Osteobl;hTH1 T unknown unknown T T T None None None -0.07 3.66 0.090766 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 619020 619021 None 9 1 G C 358.570007324 None snp tv 1.0 1 rs14155 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 -2.69000005722 1.00186e-31 0 1 2 0 0.833333333333 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 1 1 0 0 15 ccC/ccG p.Pro1081Pro/c.3243C>G 1230 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 16 None None None None 6 None None None 5 0.25 None None None None 1 0.490811816702 0.674783796086 0.553032635468 0 1 0.4006 0.5823 0.7822 0.7352 0.5119 0.622404 None None None None 0 None None None T unknown unknown T T T None COSM148451 None -0.8 0.68 0.67177 1 0.526 0.543461167304 0.688895655704 0.374353572113 0.595341018252 0.498255813953 0.492231979157 0.555555555556 0.761738327618 27247 16787 111916 0.7822 chr19 619138 619139 None 10 25 G A 146.940002441 None snp ts 1.0 1 rs11669180 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -7.03000020981 None 1 1 1 0 0.5 0.563702861715 0.333333333333 0.6 0.585505 POLRMT ENST00000588649 0 0 0 0 14 c.3154-29C>T 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 14 None None None None 6 None None None 3 0.5 None None None None 1 0.0469876715515 0.00908677873694 0.0341538461538 0 1 0.0303 0 0.0102 0.0008 0.0537 0.0171725 None None None None 0 GR_2 6 8988t;Hepatocytes;Mcf7Hypoxlac;Medullo;Osteobl;hTH1 T unknown unknown T T T None None None -0.53 1.59 0.099367 1 0.033 0.0333808246731 0.00747737111373 0.0213801494872 0 0.028602018966 0.0501195878818 0.0461711711712 0.010007322431 3743 120 119320 0.0537 chr19 619407 619408 None 11 25 A G 218.791000366 None snp ts 1.0 1 rs10853989 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 1.30999994278 None 0 2 1 0 0.666666666667 0.38647623074 -0.5 0.533333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 13 c.3067-112T>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 13 None None None None 6 None None None 4 0.285714000463 None None None None 0 -1 -1 -1 0 1 0.2305 0.3313 0.4581 0.438 0.333 0.370607 None None None None 0 None None None T unknown T T T T None None None 0.17 4.94 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 0.4581 chr19 619573 619574 None 12 25 T G 594.638977051 None snp tv 1.0 1 rs10853990 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 0.709999978542 None 0 0 3 0 1.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 13 c.3066+12A>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 18 None None None None 6 None None None 6 0.0 None None None None 1 0.48696461825 0.564032697548 0.513080947984 0 1 0.3775 0.5823 0.7802 0.5915 0.504 0.579273 None None None None 0 None None None T unknown T T T T None None None 0.05 4.26 0.115753 1 0.515 0.51814833417 0.567434534357 0.351694178975 0.589701770736 0.467252880534 0.477373000797 0.540178571429 0.74799270073 28115 16891 119460 0.7802 chr19 619771 619772 None 13 1 G C 605.588012695 None snp tv 1.0 1 rs11669381 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 1 -2.26999998093 None 0 0 3 0 1.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 1 0 12 c.2887C>G 1230 protein_coding splice_region_variant splice_region_variant MED None None None None None None 1X 21 None None None None 6 None None None 6 0.0 None None None None 1 0.485071145323 0.558689717925 0.510023130301 0 1 0.3775 0.5823 0.7802 0.5893 0.504 0.578674 None None None None 0 None 4 Ips;Mcf7Hypoxlac;Melano;T47d T unknown T T T T None None None 0.02 4.12 0.252514 1 0.51 0.507415657087 0.568265682657 0.350622043105 0.590639106676 0.467727272727 0.475548087694 0.530150753769 0.756382202772 26254 14892 110442 0.7802 chr19 619912 619913 None 14 26 T C 312.600006104 None snp ts 1.0 1 rs2074548 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -1.66999995708 None 0 2 1 0 0.666666666667 0.38647623074 -0.5 0.533333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 12 c.2886+45A>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 20 None None None None 6 None None None 4 0.588235020638 None None None None 1 0.175463288764 0.0648994515539 0.137963106495 0 1 0.1354 0.2391 0.1534 0.0658 0.2107 0.15655 None None None None 0 None None None T unknown T T unknown T None None None -0.08 3.6 0.069865 1 0.169 0.191597688903 0.074298293891 0.132882882883 0.270142818647 0.229083665339 0.207189983506 0.234870317003 0.177350711531 15229 1737 97616 0.270142818647 chr19 620003 620004 None 15 1 T C 0.0142326997593 None snp ts 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 -7.05000019073 1.70893e-24 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 1 1 0 0 12 gAg/gGg p.Glu947Gly/c.2840A>G 1230 protein_coding missense_variant missense_variant MED None None None None None None 1X 17 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None 88.7 46.6 94.6 0 None None None T unknown T T unknown T None None None 0.2 5.09 0.67177 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620044 620045 None 16 1 A T 25.5454998016 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 -2.56999993324 1.70893e-24 2 1 0 0 0.166666666667 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 1 1 0 0 12 gcT/gcA p.Ala933Ala/c.2799T>A 1230 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 19 None None None None 6 None None None 1 0.40000000596 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None 88.7 46.6 94.5 0 None 3 Adult_Th0;MCF7;T47d T unknown T T unknown T None None None 0.52 6.83 0.67177 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620200 620201 None 17 26 A C 0.000816828978714 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -1.46000003815 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 11 c.2764-121T>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 22 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown T T unknown T None None None 0.67 7.59 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620209 620210 None 18 26 A C 0.000525830022525 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -5.01999998093 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 11 c.2764-130T>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 24 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown T T unknown T None None None -0.27 2.69 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620213 620214 None 19 26 T C 0.000602717977017 None snp ts 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -3.82999992371 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 11 c.2764-134A>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 25 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown T T unknown T None None None 0.15 4.79 0.055982 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620227 620228 None 20 26 A C 0.0210453998297 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -7.17999982834 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 11 c.2763+137T>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 26 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown T T unknown T None None None 0.02 4.11 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620298 620299 None 21 26 C A 19.4309005737 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -6.48999977112 None 2 1 0 0 0.166666666667 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 11 c.2763+66G>T 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 20 None None None None 6 None None None 1 0.25 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown T T unknown T None None None -0.37 2.26 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620314 620315 None 22 26 A C 0.014825399965 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -5.05000019073 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 11 c.2763+50T>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 23 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown T T unknown T None None None 0.18 4.99 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620380 620381 None 23 1 T G 0.00358701008372 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 4.48000001907 5.55783e-10 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 1 1 0 0 11 cAc/cCc p.His916Pro/c.2747A>C 1230 protein_coding missense_variant missense_variant MED None None None None None None 1X 27 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 2 Mcf7Hypoxlac;Phte T unknown T T unknown T None None None 2.95 15.85 0.67177 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620413 620414 None 24 1 A C 0.000245074013947 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 4.48000001907 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 1 1 0 0 11 gTg/gGg p.Val905Gly/c.2714T>G 1230 protein_coding missense_variant missense_variant MED None None None None None None 1X 28 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 2 Mcf7Hypoxlac;Phte T unknown T T unknown T None None None 1.96 12.52 0.67177 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620428 620429 None 25 1 T C 0.000244160997681 None snp ts 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 4.48000001907 2.7228e-35 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 1 1 0 0 11 gAg/gGg p.Glu900Gly/c.2699A>G 1230 protein_coding missense_variant missense_variant MED None None None None None None 1X 26 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 2 Mcf7Hypoxlac;Phte T unknown T T unknown T None None None 3.74 19.0 0.67177 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620453 620454 None 26 1 A C 0.00132846995257 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 4.48000001907 2.7228e-35 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 1 1 0 0 11 Tgg/Ggg p.Trp892Gly/c.2674T>G 1230 protein_coding missense_variant missense_variant MED None None None None None None 1X 24 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 2 Mcf7Hypoxlac;Phte T unknown T T unknown T None None None 2.98 15.93 0.67177 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620458 620459 None 27 1 T C 0.000420285010478 None snp ts 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 4.48000001907 2.7228e-35 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 1 1 0 0 11 gAa/gGa p.Glu890Gly/c.2669A>G 1230 protein_coding missense_variant missense_variant MED None None None None None None 1X 23 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 2 Mcf7Hypoxlac;Phte T unknown T T unknown T None None None 3.43 17.61 0.67177 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620727 620728 None 28 24 A G 0.0136912995949 None snp ts 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 Low_complexity_Low_complexity_G-rich;trf;trf;trf;trf 1 0 0 -3.72000002861 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 10 c.2641-241T>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 8 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 3 HESC;LNCap;Medullo T unknown unknown unknown unknown T None None None -0.39 2.15 0.055982 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620806 620807 None 29 24 G A 48.1334991455 None snp ts 1.0 1 rs117097376 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 Low_complexity_Low_complexity_G-rich;trf;trf;trf;trf 1 0 0 0.0 None 1 2 0 0 0.333333333333 0.38647623074 -0.5 0.533333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 10 c.2640+251C>T 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 6 None None None None 6 None None None 2 0.600000023842 None None None None 0 -1 -1 -1 0 1 0.1326 0.2371 0.1616 0.0469 0.2127 0.152756 None None None None 0 None None None T unknown unknown unknown unknown T None None None -0.4 2.11 0.067858 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 0.2371 chr19 620925 620988 None 30 24 GGGCGCCAGGGGAGGGGGAGGGGAGGAGGAAGACGGGCAGGGGGCGCGGGGGCGCCGGGGGAG G 0.00550806010142 None indel del 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 Low_complexity_Low_complexity_G-rich;trf;trf;trf;trf 1 0 0 -0.948000013828 None 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 10 c.2640+70_2640+131delCTCCCCCGGCGCCCCCGCGCCCCCTGCCCGTCTTCCTCCTCCCCTCCCCCTCCCCTGGCGCC 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1M62D1M 5 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown unknown unknown unknown T None None None None None 0.067858 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 620998 621020 None 31 24 CGCCGGGGGAGGGCGCGGGGGT C 101.459999084 None indel del 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 Low_complexity_Low_complexity_G-rich;trf;trf;trf;trf 1 0 0 0.0 None 1 2 0 0 0.333333333333 0.38647623074 -0.5 0.533333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 10 c.2640+38_2640+58delACCCCCGCGCCCTCCCCCGGC 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1M21D1M 11 None None None None 6 None None None 2 0.600000023842 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown unknown unknown unknown T None None None None None 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 621019 621020 None 32 24 T C 101.459999084 None snp ts 1.0 1 rs111437074 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 Low_complexity_Low_complexity_G-rich;trf;trf;trf;trf 1 0 0 -3.09999990463 None 0 3 0 0 0.5 0.0832645169833 -1 0.6 0.585505 POLRMT ENST00000588649 0 0 0 0 10 c.2640+38A>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 21M1X1M 11 None None None None 6 None None None 3 0.40000000596 None None None None 1 0.514882506527 0.811540497618 0.612869382759 0 1 0.4035 0.6637 0.8139 0.8714 0.5169 0.682308 None None None None 0 None None None T unknown unknown unknown unknown T None None None 0.07 4.38 0.069865 1 0.044 0.220028544244 0.452631578947 0.0372208436725 0.141221374046 0.162790697674 0.0857142857143 0.210526315789 0.537243150685 826 512 8408 0.8714 chr19 621062 621063 None 33 1 A G 22.4130992889 None snp ts 1.0 1 rs76890343 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 0.924000024796 1.0552e-96 2 1 0 0 0.166666666667 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 1 1 0 0 10 Ttg/Ctg p.Leu879Leu/c.2635T>C 1230 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 18 None None None None 6 None None None 1 0.33333298564 None None None None 1 0.159286879515 0.152213601095 0.156896019747 0 1 0.1499 0.249 0.3476 0.1823 0.172 0.221446 None None None None 0 None 9 Chorion;Gm19239;HESC;HepG2;Huh7;Ishikawa_T;K562;Phte;hTH1 T unknown unknown unknown unknown T None None None -0.49 1.75 0.718356 1 0.191 0.199013246581 0.185101847466 0.15082382763 0.247556207234 0.182943143813 0.169503826867 0.22181372549 0.329975278121 17673 2236 111274 0.3476 chr19 621069 621070 None 34 1 G A 5.0266699791 None snp ts 1.0 1 rs77809401 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 2.30999994278 1.0552e-96 2 1 0 0 0.166666666667 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 1 1 0 0 10 gaC/gaT p.Asp876Asp/c.2628C>T 1230 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 18 None None None None 6 None None None 1 0.33333298564 None None None None 1 0.17826390505 0.132513661202 0.162790697674 0 1 0.1441 0.25 0.3476 0.1225 0.171 0.204872 None None None None 0 None 9 Chorion;Gm19239;HESC;HepG2;Huh7;Ishikawa_T;K562;Phte;hTH1 T unknown unknown unknown unknown T None None None -0.9 0.44 0.718356 1 0.187 0.194067616038 0.14221349353 0.145531076482 0.244673123487 0.181579809898 0.168410075928 0.222627737226 0.329416830709 17443 2208 112636 0.3476 chr19 621277 621278 None 35 1 T G 0.00308829010464 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 1 4.94000005722 1.0552e-96 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 1 1 0 0 10 tAc/tCc p.Tyr807Ser/c.2420A>C 1230 protein_coding missense_variant missense_variant MED None None None None None None 1X 13 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown T T T T None None None 4.79 27.0 0.67177 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 621594 621595 None 36 1 T G 0.00339744007215 None snp tv 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 1 3.50999999046 1.0552e-96 3 0 0 0 0.0 1 None 0 0.585505 POLRMT ENST00000588649 1 1 0 0 10 caA/caC p.Gln701His/c.2103A>C 1230 protein_coding missense_variant missense_variant MED None None None None None None 1X 11 None None None None 6 None None None 0 0.0 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None 3 Adult_Th0;Ishikawa_E;Phte T unknown T T T T None None None 3.04 16.15 0.706548 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 621711 621712 None 37 1 A G 440.347991943 None snp ts 1.0 1 rs2238547 None None None None None 1 None None None None None None None None None None None None None None None None None None 111 None chr19p13.3 None 1 0 1 3.57999992371 1.0552e-96 0 1 2 0 0.833333333333 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 1 1 0 0 10 gcT/gcC p.Ala662Ala/c.1986T>C 1230 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 18 None None None None 6 None None None 5 0.428570985794 None None None None 0 -1 -1 -1 0 1 0.3905 0.5813 0.7802 0.7398 0.504 0.620008 None None None None 0 None None None T unknown T T T T None COSM440577 None -0.38 2.2 0.706548 1 0.516 0.54942411989 0.687228695454 0.387757201646 0.603094123765 0.510170870627 0.496691739797 0.57180156658 0.758719002785 26157 15591 104362 0.7802