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info.txt
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species homo_sapiens
assembly GRCh38
sift b
polyphen b
source_polyphen 2.2.2
source_sift sift5.2.2
source_genebuild 2014-07
source_gencode GENCODE 41
source_assembly GRCh38.p13
variation_cols chr,variation_name,failed,somatic,start,end,allele_string,strand,clin_sig,phenotype_or_disease,clin_sig_allele,pubmed,var_synonyms,AF,AFR,AMR,EAS,EUR,SAS,gnomADe,gnomADe_AFR,gnomADe_AMR,gnomADe_ASJ,gnomADe_EAS,gnomADe_FIN,gnomADe_NFE,gnomADe_OTH,gnomADe_SAS,gnomADg,gnomADg_AFR,gnomADg_AMI,gnomADg_AMR,gnomADg_ASJ,gnomADg_EAS,gnomADg_FIN,gnomADg_MID,gnomADg_NFE,gnomADg_OTH,gnomADg_SAS
source_COSMIC 95
source_HGMD-PUBLIC 20204
source_ClinVar 202201
source_dbSNP 154
source_1000genomes phase3
source_gnomADe r2.1.1
source_gnomADg v3.1.2
var_type tabix
regulatory 1
cell_types A549,A673,B,B_(PB),CD14+_monocyte_(PB),CD14+_monocyte_1,CD4+_CD25+_ab_Treg_(PB),CD4+_ab_T,CD4+_ab_T_(PB)_1,CD4+_ab_T_(PB)_2,CD4+_ab_T_(Th),CD4+_ab_T_(VB),CD8+_ab_T_(CB),CD8+_ab_T_(PB),CMP_CD4+_1,CMP_CD4+_2,CMP_CD4+_3,CM_CD4+_ab_T_(VB),DND-41,EB_(CB),EM_CD4+_ab_T_(PB),EM_CD8+_ab_T_(VB),EPC_(VB),GM12878,H1-hESC_2,H1-hESC_3,H9_1,HCT116,HSMM,HUES48,HUES6,HUES64,HUVEC,HUVEC-prol_(CB),HeLa-S3,HepG2,K562,M0_(CB),M0_(VB),M1_(CB),M1_(VB),M2_(CB),M2_(VB),MCF-7,MM.1S,MSC,MSC_(VB),NHLF,NK_(PB),NPC_1,NPC_2,NPC_3,PC-3,PC-9,SK-N.,T_(PB),Th17,UCSF-4,adrenal_gland,aorta,astrocyte,bipolar_neuron,brain_1,cardiac_muscle,dermal_fibroblast,endodermal,eosinophil_(VB),esophagus,foreskin_fibroblast_2,foreskin_keratinocyte_1,foreskin_keratinocyte_2,foreskin_melanocyte_1,foreskin_melanocyte_2,germinal_matrix,heart,hepatocyte,iPS-15b,iPS-20b,iPS_DF_19.11,iPS_DF_6.9,keratinocyte,kidney,large_intestine,left_ventricle,leg_muscle,lung_1,lung_2,mammary_epithelial_1,mammary_epithelial_2,mammary_myoepithelial,monocyte_(CB),monocyte_(VB),mononuclear_(PB),myotube,naive_B_(VB),neuron,neurosphere_(C),neurosphere_(GE),neutro_myelocyte,neutrophil_(CB),neutrophil_(VB),osteoblast,ovary,pancreas,placenta,psoas_muscle,right_atrium,right_ventricle,sigmoid_colon,small_intestine_1,small_intestine_2,spleen,stomach_1,stomach_2,thymus_1,thymus_2,trophoblast,trunk_muscle
source_regbuild 1.0