Type ID Version Number of files Size in bytes (total) Summary
samocha_enrichment_background enrichment/samocha_background 0 4 1.38 MB Samocha's Enrichment Background Model
gene_score gene_properties/gene_scores/Iossifov_Wigler_PNAS_2015 0 6 7.8 MB Probability of a gene to be associated with autism
gene_score gene_properties/gene_scores/LGD 0 7 548.18 KB Gene vulnerability/intolerance score based on the rare LGD variants
gene_score gene_properties/gene_scores/LOEUF 0 9 13.19 MB Degree of intolerance to predicted Loss-of-Function (pLoF) variation
gene_score gene_properties/gene_scores/RVIS 0 7 460.58 KB Residual Variation Intolerance Score
gene_score gene_properties/gene_scores/SFARI_gene_score 0 7 151.88 KB SFARI gene score release 01-13-2021
gene_score gene_properties/gene_scores/SFARI_gene_score_2024_Q1 0 9 191.17 KB SFARI gene score 2024 Q1 release
gene_score gene_properties/gene_scores/Satterstrom_Buxbaum_Cell_2020 0 6 620.88 KB TADA derived gene-autism association score
gene_score gene_properties/gene_scores/pLI 0 7 895.26 KB Probability of Loss-of-Function Intolerance
gene_score gene_properties/gene_scores/pRec 0 7 897.09 KB Probability of biallelic loss-of-function intolerance
gene_set gene_properties/gene_sets/GO 0 4 12.07 MB GO (Gene Ontology) gene sets
gene_set gene_properties/gene_sets/GO_2024-06-17_release 0 9 50.78 MB GO terms 2024-06-17 release
gene_set gene_properties/gene_sets/MSigDB_curated 0 3 3.12 MB MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources
gene_set gene_properties/gene_sets/PFAM_37.0_domains 0 7 2.84 MB PFAM 37.0 domains
gene_set gene_properties/gene_sets/autism 0 7 4.43 KB Autism gene sets derived from publications
gene_set gene_properties/gene_sets/disease 0 3 66.81 KB Gene-disease associations
gene_set gene_properties/gene_sets/domain 0 3 391.24 KB Protein domains or motifs
gene_set gene_properties/gene_sets/gene2phenotype 0 12 4.3 MB gene2phenotype 28_08_2024 release
gene_set gene_properties/gene_sets/main 0 17 103.97 KB Variety of gene sets with potential relevance to autism
gene_set gene_properties/gene_sets/miRNA 0 4 1.6 MB miRNA target sets
gene_set gene_properties/gene_sets/miRNA_Darnell 0 3 95.2 KB miRNA target sets by Darnell
gene_set gene_properties/gene_sets/relevant 0 15 101.82 KB Variety of gene sets with potential relevance to autism
gene_set gene_properties/gene_sets/sfari 0 11 11.6 KB SFARI gene sets with relevance to autism
gene_set gene_properties/gene_sets/spark 0 5 1.29 KB SPARK gene sets with relevance to autism
gene_score hg19/enrichment/coding_length_in_target_ref_gene_v20190211 0 5 111.09 KB Coding length in target enrichment background using refGene gene models for HG19 from 20190211
gene_score hg19/enrichment/coding_length_ref_gene_v20190211 0 5 162.17 KB Coding length enrichment background using refGene gene models for HG19 from 20190211
gene_models hg19/gene_models/ccds_v201309 0 5 2.56 MB CCDS (Consensus CDS) gene model 2013
gene_models hg19/gene_models/knownGene_v201304 0 5 5.5 MB knownGene gene model 2013
gene_models hg19/gene_models/refGeneMito_v201309 0 5 3.98 MB RefGene gene model 2013 with mitochondrial genes
gene_models hg19/gene_models/refGene_v201309 0 5 3.98 MB RefGene gene model 2013
gene_models hg19/gene_models/refGene_v20190211 0 5 5.47 MB RefGene gene model 2019
genome hg19/genomes/GATK_ResourceBundle_5777_b37_phiX174 0 92 2.94 GB HG19 reference genome
position_score hg19/phastCons46_placentals 0 6 20.18 GB Conservation score based on the multiple alignment of 46 species using placental species
position_score hg19/phastCons46_primates 0 6 20.18 GB Conservation score based on the multiple alignment of 46 species using primate species
position_score hg19/phastCons46_vertebrates 0 6 20.18 GB Conservation score based on the multiple alignment of 46 species using vertebrate species
position_score hg19/phyloP46_placentals 0 6 8.02 GB Conservation score based on the multiple alignment of 46 species using placental species
position_score hg19/phyloP46_primates 0 6 20.18 GB Conservation score based on the multiple alignment of 46 species using primate species
position_score hg19/phyloP46_vertebrates 0 6 20.18 GB Conservation score based on the multiple alignment of 46 species using vertebrate species
np_score hg19/scores/AlphaMissense 0 13 1.15 GB Functional impact of mutations on protein function
np_score hg19/scores/CADD 0 10 79.37 GB CADD score for functional prediction of a SNP
position_score hg19/scores/FitCons-i6-merged 0 8 105.18 MB fitCons (fitness consequences) score estimates selective pressure on genomic positions.
position_score hg19/scores/FitCons2_E035 0 8 291.53 MB FitCons2 score computed for the Primary haematopoietic stem cells (HSCs) (E035).
position_score hg19/scores/FitCons2_E067 0 8 260.98 MB Cell-type specific FitCons scores for Brain Angular Gyrus tissue (E067).
position_score hg19/scores/FitCons2_E068 0 8 270.24 MB Cell-type specific FitCons scores for Brain Anterior Caudate tissue (E068).
position_score hg19/scores/FitCons2_E069 0 8 262.14 MB Cell-type specific FitCons scores for Brain Cingulate Gyrus tissue (E069).
position_score hg19/scores/FitCons2_E070 0 8 262.33 MB Cell-type specific FitCons scores for Brain Germinal Matrix tissue (E070).
position_score hg19/scores/FitCons2_E071 0 8 255.47 MB Cell-type specific FitCons scores for Brain Hippocampus Middle tissue (E071).
position_score hg19/scores/FitCons2_E072 0 8 257.62 MB Cell-type specific FitCons scores for Brain Inferior Temporal Lobe tissue (E072).
position_score hg19/scores/FitCons2_E073 0 8 266.96 MB FitCons2 score computed for the Brain Dorsolateral Prefrontal Cortex (E073) tissue.
position_score hg19/scores/FitCons2_E074 0 8 262.13 MB Cell-type specific FitCons scores for Brain Substantia Nigra tissue (E074).
position_score hg19/scores/FitCons2_E081 0 8 276.05 MB Cell-type specific FitCons scores for Fetal Brain Male tissue (E081).
position_score hg19/scores/FitCons2_E082 0 8 278.89 MB Cell-type specific FitCons scores for Fetal Brain Female tissue (E082).
position_score hg19/scores/LINSIGHT 0 6 1.3 GB The likelihood of negative selection on noncoding sites
position_score hg19/scores/Linsight 0 8 1.35 GB LINSIGHT score quantifies the likelihood of negative selection on noncoding sites.
np_score hg19/scores/MPC 0 9 2.26 GB MPC (Missense badness, PolyPhen-2, and Constraint) is a composite score that predicts the impact of missense variants.
position_score hg19/scores/fitCons2/FitCons2_E001 0 6 230.6 MB Cell-type specific FitCons scores for ES-I3 Cells (E001)
position_score hg19/scores/fitCons2/FitCons2_E002 0 6 234.05 MB Cell-type specific FitCons scores for ES-WA7 Cells (E002)
position_score hg19/scores/fitCons2/FitCons2_E003 0 6 231.79 MB Cell-type specific FitCons scores for H1 Cells (E003)
position_score hg19/scores/fitCons2/FitCons2_E004 0 6 220.58 MB Cell-type specific FitCons scores for H1 BMP4 Derived Mesendoderm Cultured Cells (E004)
position_score hg19/scores/fitCons2/FitCons2_E005 0 6 197.38 MB Cell-type specific FitCons scores for H1 BMP4 Derived Trophoblast Cultured Cells (E005)
position_score hg19/scores/fitCons2/FitCons2_E006 0 6 187.59 MB Cell-type specific FitCons scores for H1 Derived Mesenchymal Stem Cells (E006)
position_score hg19/scores/fitCons2/FitCons2_E007 0 6 219.95 MB Cell-type specific FitCons scores for H1 Derived Neuronal Progenitor Cultured Cells (E007)
position_score hg19/scores/fitCons2/FitCons2_E008 0 6 227.43 MB Cell-type specific FitCons scores for H9 Cells (E008)
position_score hg19/scores/fitCons2/FitCons2_E009 0 6 224.8 MB Cell-type specific FitCons scores for H9 Derived Neuronal Progenitor Cultured Cells (E009)
position_score hg19/scores/fitCons2/FitCons2_E010 0 6 214.44 MB Cell-type specific FitCons scores for H9 Derived Neuron Cultured Cells (E010)
position_score hg19/scores/fitCons2/FitCons2_E011 0 6 214.45 MB Cell-type specific FitCons scores for hESC Derived CD184+ Endoderm Cultured Cells (E011)
position_score hg19/scores/fitCons2/FitCons2_E012 0 6 229.97 MB Cell-type specific FitCons scores for hESC Derived CD56+ Ectoderm Cultured Cells (E012)
position_score hg19/scores/fitCons2/FitCons2_E013 0 6 216.21 MB Cell-type specific FitCons scores for hESC Derived CD56+ Mesoderm Cultured Cells (E013)
position_score hg19/scores/fitCons2/FitCons2_E014 0 6 227.54 MB Cell-type specific FitCons scores for HUES48 Cells (E014)
position_score hg19/scores/fitCons2/FitCons2_E015 0 6 230.71 MB Cell-type specific FitCons scores for HUES6 Cells (E015)
position_score hg19/scores/fitCons2/FitCons2_E016 0 6 225.76 MB Cell-type specific FitCons scores for HUES64 Cells (E016)
position_score hg19/scores/fitCons2/FitCons2_E017 0 6 218.4 MB Cell-type specific FitCons scores for Liver (E017)
position_score hg19/scores/fitCons2/FitCons2_E018 0 6 234.95 MB Cell-type specific FitCons scores for iPS-15b Cells (E018)
position_score hg19/scores/fitCons2/FitCons2_E019 0 6 237.22 MB Cell-type specific FitCons scores for iPS-18 Cells (E019)
position_score hg19/scores/fitCons2/FitCons2_E020 0 6 240.49 MB Cell-type specific FitCons scores for iPS-20b Cells (E020)
position_score hg19/scores/fitCons2/FitCons2_E021 0 6 214.32 MB Cell-type specific FitCons scores for iPS DF 6.9 Cells (E021)
position_score hg19/scores/fitCons2/FitCons2_E022 0 6 199.62 MB Cell-type specific FitCons scores for iPS DF 19.11 Cells (E022)
position_score hg19/scores/fitCons2/FitCons2_E023 0 6 214.67 MB Cell-type specific FitCons scores for Mesenchymal Stem Cell Derived Adipocyte Cultured Cells (E023)
position_score hg19/scores/fitCons2/FitCons2_E024 0 6 223.0 MB Cell-type specific FitCons scores for ES-UCSF4 Cells (E024)
position_score hg19/scores/fitCons2/FitCons2_E025 0 6 228.85 MB Cell-type specific FitCons scores for Adipose Derived Mesenchymal Stem Cell Cultured Cells (E025)
position_score hg19/scores/fitCons2/FitCons2_E026 0 6 212.77 MB Cell-type specific FitCons scores for Bone Marrow Derived Cultured Mesenchymal Stem Cells (E026)
position_score hg19/scores/fitCons2/FitCons2_E027 0 6 213.05 MB Cell-type specific FitCons scores for Breast Myoepithelial Primary Cells (E027)
position_score hg19/scores/fitCons2/FitCons2_E028 0 6 213.67 MB Cell-type specific FitCons scores for Breast variant Human Mammary Epithelial Cells (vHMEC) (E028)
position_score hg19/scores/fitCons2/FitCons2_E029 0 6 220.18 MB Cell-type specific FitCons scores for Primary monocytes from peripheral blood (E029)
position_score hg19/scores/fitCons2/FitCons2_E030 0 6 234.5 MB Cell-type specific FitCons scores for Primary neutrophils from peripheral blood (E030)
position_score hg19/scores/fitCons2/FitCons2_E031 0 6 263.52 MB Cell-type specific FitCons scores for Primary B cells from cord blood (E031)
position_score hg19/scores/fitCons2/FitCons2_E032 0 6 234.78 MB Cell-type specific FitCons scores for Primary B cells from peripheral blood (E032)
position_score hg19/scores/fitCons2/FitCons2_E033 0 6 252.22 MB Cell-type specific FitCons scores for Primary T cells from cord blood (E033)
position_score hg19/scores/fitCons2/FitCons2_E034 0 6 223.65 MB Cell-type specific FitCons scores for Primary T cells from peripheral blood (E034)
position_score hg19/scores/fitCons2/FitCons2_E035 0 6 233.55 MB Cell-type specific FitCons scores for Primary hematopoietic stem cells (E035)
position_score hg19/scores/fitCons2/FitCons2_E036 0 6 211.79 MB Cell-type specific FitCons scores for Primary hematopoietic stem cells short term culture Cells (E036)
position_score hg19/scores/fitCons2/FitCons2_E037 0 6 221.83 MB Cell-type specific FitCons scores for Primary T helper memory cells from peripheral blood 2 (E037)
position_score hg19/scores/fitCons2/FitCons2_E038 0 6 213.5 MB Cell-type specific FitCons scores for Primary T helper naive cells from peripheral blood (E038)
position_score hg19/scores/fitCons2/FitCons2_E039 0 6 231.12 MB Cell-type specific FitCons scores for Primary T helper naive cells from peripheral blood (E039)
position_score hg19/scores/fitCons2/FitCons2_E040 0 6 262.61 MB Cell-type specific FitCons scores for Primary T helper memory cells from peripheral blood 1 (E040)
position_score hg19/scores/fitCons2/FitCons2_E041 0 6 230.91 MB Cell-type specific FitCons scores for Primary T helper cells PMA-I stimulated (E041)
position_score hg19/scores/fitCons2/FitCons2_E042 0 6 240.82 MB Cell-type specific FitCons scores for Primary T helper 17 cells PMA-I stimulated (E042)
position_score hg19/scores/fitCons2/FitCons2_E043 0 6 247.45 MB Cell-type specific FitCons scores for Primary T helper cells from peripheral blood (E043)
position_score hg19/scores/fitCons2/FitCons2_E044 0 6 245.95 MB Cell-type specific FitCons scores for Primary T regulatory cells from peripheral blood (E044)
position_score hg19/scores/fitCons2/FitCons2_E045 0 6 235.57 MB Cell-type specific FitCons scores for Primary T cells effector/memory enriched from peripheral blood (E045)
position_score hg19/scores/fitCons2/FitCons2_E046 0 6 230.03 MB Cell-type specific FitCons scores for Primary Natural Killer cells from peripheral blood (E046)
position_score hg19/scores/fitCons2/FitCons2_E047 0 6 230.97 MB Cell-type specific FitCons scores for Primary T CD8+ naive cells from peripheral blood (E047)
position_score hg19/scores/fitCons2/FitCons2_E048 0 6 234.84 MB Cell-type specific FitCons scores for Primary T CD8+ memory cells from peripheral blood (E048)
position_score hg19/scores/fitCons2/FitCons2_E049 0 6 211.48 MB Cell-type specific FitCons scores for Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells (E049)
position_score hg19/scores/fitCons2/FitCons2_E050 0 6 210.32 MB Cell-type specific FitCons scores for Primary hematopoietic stem cells G-CSF-mobilized Female (E050)
position_score hg19/scores/fitCons2/FitCons2_E051 0 6 252.44 MB Cell-type specific FitCons scores for Primary hematopoietic stem cells G-CSF-mobilized Male (E051)
position_score hg19/scores/fitCons2/FitCons2_E052 0 6 223.16 MB Cell-type specific FitCons scores for Muscle Satellite Cultured Cells (E052)
position_score hg19/scores/fitCons2/FitCons2_E053 0 6 214.04 MB Cell-type specific FitCons scores for Cortex derived primary cultured neurospheres (E053)
position_score hg19/scores/fitCons2/FitCons2_E054 0 6 207.21 MB Cell-type specific FitCons scores for Ganglion Eminence derived primary cultured neurospheres (E054)
position_score hg19/scores/fitCons2/FitCons2_E055 0 6 212.6 MB Cell-type specific FitCons scores for Foreskin Fibroblast Primary Cells skin01 (E055)
position_score hg19/scores/fitCons2/FitCons2_E056 0 6 210.57 MB Cell-type specific FitCons scores for Foreskin Fibroblast Primary Cells skin02 (E056)
position_score hg19/scores/fitCons2/FitCons2_E057 0 6 212.04 MB Cell-type specific FitCons scores for Foreskin Keratinocyte Primary Cells skin02 (E057)
position_score hg19/scores/fitCons2/FitCons2_E058 0 6 213.35 MB Cell-type specific FitCons scores for Foreskin Keratinocyte Primary Cells skin03 (E058)
position_score hg19/scores/fitCons2/FitCons2_E059 0 6 213.1 MB Cell-type specific FitCons scores for Foreskin Melanocyte Primary Cells skin01 (E059)
position_score hg19/scores/fitCons2/FitCons2_E061 0 6 213.52 MB Cell-type specific FitCons scores for Foreskin Melanocyte Primary Cells skin03 (E061)
position_score hg19/scores/fitCons2/FitCons2_E062 0 6 204.92 MB Cell-type specific FitCons scores for Primary mononuclear cells from peripheral blood (E062)
position_score hg19/scores/fitCons2/FitCons2_E063 0 6 203.35 MB Cell-type specific FitCons scores for Adipose Nuclei (E063)
position_score hg19/scores/fitCons2/FitCons2_E065 0 6 211.95 MB Cell-type specific FitCons scores for Aorta (E065)
position_score hg19/scores/fitCons2/FitCons2_E066 0 6 221.49 MB Cell-type specific FitCons scores for Liver (E066)
position_score hg19/scores/fitCons2/FitCons2_E067 0 6 208.67 MB Cell-type specific FitCons scores for Brain Angular Gyrus (E067)
position_score hg19/scores/fitCons2/FitCons2_E068 0 6 214.79 MB Cell-type specific FitCons scores for E68 Brain Anterior Caudate (E068)
position_score hg19/scores/fitCons2/FitCons2_E069 0 6 209.34 MB Cell-type specific FitCons scores for Brain Cingulate Gyrus (E069)
position_score hg19/scores/fitCons2/FitCons2_E070 0 6 208.97 MB Cell-type specific FitCons scores for Brain Germinal Matrix (E070)
position_score hg19/scores/fitCons2/FitCons2_E071 0 6 203.49 MB Cell-type specific FitCons scores for Brain Hippocampus Middle (E071)
position_score hg19/scores/fitCons2/FitCons2_E072 0 6 206.07 MB Cell-type specific FitCons scores for Brain Inferior Temporal Lobe (E072)
position_score hg19/scores/fitCons2/FitCons2_E073 0 6 214.21 MB Cell-type specific FitCons scores for Brain_Dorsolateral_Prefrontal_Cortex (E073)
position_score hg19/scores/fitCons2/FitCons2_E074 0 6 209.33 MB Cell-type specific FitCons scores for Brain Substantia Nigra (E074)
position_score hg19/scores/fitCons2/FitCons2_E075 0 6 204.3 MB Cell-type specific FitCons scores for Colonic Mucosa (E075)
position_score hg19/scores/fitCons2/FitCons2_E076 0 6 231.19 MB Cell-type specific FitCons scores for Colon Smooth Muscle (E076)
position_score hg19/scores/fitCons2/FitCons2_E077 0 6 230.97 MB Cell-type specific FitCons scores for Duodenum Mucosa (E077)
position_score hg19/scores/fitCons2/FitCons2_E078 0 6 207.21 MB Cell-type specific FitCons scores for Duodenum Smooth Muscle (E078)
position_score hg19/scores/fitCons2/FitCons2_E079 0 6 198.02 MB Cell-type specific FitCons scores for Esophagus (E079)
position_score hg19/scores/fitCons2/FitCons2_E080 0 6 206.79 MB Cell-type specific FitCons scores for Fetal Adrenal Gland (E080)
position_score hg19/scores/fitCons2/FitCons2_E081 0 6 221.55 MB Cell-type specific FitCons scores for Fetal Brain Male (E081)
position_score hg19/scores/fitCons2/FitCons2_E082 0 6 223.59 MB Cell-type specific FitCons scores for Fetal Brain Female (E082)
position_score hg19/scores/fitCons2/FitCons2_E083 0 6 224.11 MB Cell-type specific FitCons scores for Fetal Heart (E083)
position_score hg19/scores/fitCons2/FitCons2_E084 0 6 225.24 MB Cell-type specific FitCons scores for Fetal Intestine Large (E084)
position_score hg19/scores/fitCons2/FitCons2_E085 0 6 229.31 MB Cell-type specific FitCons scores for Fetal Intestine Small (E085)
position_score hg19/scores/fitCons2/FitCons2_E086 0 6 231.56 MB Cell-type specific FitCons scores for Fetal Kidney (E086)
position_score hg19/scores/fitCons2/FitCons2_E087 0 6 226.19 MB Cell-type specific FitCons scores for Pancreatic Islets (E087)
position_score hg19/scores/fitCons2/FitCons2_E088 0 6 219.94 MB Cell-type specific FitCons scores for Fetal Lung (E088)
position_score hg19/scores/fitCons2/FitCons2_E089 0 6 209.56 MB Cell-type specific FitCons scores for Fetal Muscle Trunk (E089)
position_score hg19/scores/fitCons2/FitCons2_E090 0 6 205.42 MB Cell-type specific FitCons scores for Fetal Muscle Leg (E090)
position_score hg19/scores/fitCons2/FitCons2_E091 0 6 194.41 MB Cell-type specific FitCons scores for Placenta (E091)
position_score hg19/scores/fitCons2/FitCons2_E092 0 6 209.39 MB Cell-type specific FitCons scores for Fetal Stomach (E092)
position_score hg19/scores/fitCons2/FitCons2_E093 0 6 212.49 MB Cell-type specific FitCons scores for Fetal Thymus (E093)
position_score hg19/scores/fitCons2/FitCons2_E094 0 6 206.44 MB Cell-type specific FitCons scores for Gastric (E094)
position_score hg19/scores/fitCons2/FitCons2_E095 0 6 180.93 MB Cell-type specific FitCons scores for E68 Left Ventricle (E095)
position_score hg19/scores/fitCons2/FitCons2_E096 0 6 192.91 MB Cell-type specific FitCons scores for Lung (E096)
position_score hg19/scores/fitCons2/FitCons2_E097 0 6 218.9 MB Cell-type specific FitCons scores for Ovary (E097)
position_score hg19/scores/fitCons2/FitCons2_E098 0 6 206.07 MB Cell-type specific FitCons scores for Pancreas (E098)
position_score hg19/scores/fitCons2/FitCons2_E099 0 6 219.45 MB Cell-type specific FitCons scores for Placenta Amnion (E099)
position_score hg19/scores/fitCons2/FitCons2_E100 0 6 197.09 MB Cell-type specific FitCons scores for Psoas Muscle (E100)
position_score hg19/scores/fitCons2/FitCons2_E101 0 6 224.7 MB Cell-type specific FitCons scores for Rectal Mucosa Donor 29 (E101)
position_score hg19/scores/fitCons2/FitCons2_E102 0 6 220.15 MB Cell-type specific FitCons scores for Rectal Mucosa Donor 31 (E102)
position_score hg19/scores/fitCons2/FitCons2_E103 0 6 219.34 MB Cell-type specific FitCons scores for Rectal Smooth Muscle (E103)
position_score hg19/scores/fitCons2/FitCons2_E104 0 6 205.04 MB Cell-type specific FitCons scores for Right Atrium (E104)
position_score hg19/scores/fitCons2/FitCons2_E105 0 6 202.39 MB Cell-type specific FitCons scores for Right Ventricle (E105)
position_score hg19/scores/fitCons2/FitCons2_E106 0 6 225.57 MB Cell-type specific FitCons scores for Sigmoid Colon (E106)
position_score hg19/scores/fitCons2/FitCons2_E107 0 6 221.47 MB Cell-type specific FitCons scores for Skeletal Muscle Male (E107)
position_score hg19/scores/fitCons2/FitCons2_E108 0 6 223.37 MB Cell-type specific FitCons scores for Skeletal Muscle Female (E108)
position_score hg19/scores/fitCons2/FitCons2_E109 0 6 203.11 MB Cell-type specific FitCons scores for Small Intestine (E109)
position_score hg19/scores/fitCons2/FitCons2_E110 0 6 220.29 MB Cell-type specific FitCons scores for Stomach Mucosa (E110)
position_score hg19/scores/fitCons2/FitCons2_E111 0 6 205.23 MB Cell-type specific FitCons scores for Stomach Smooth Muscle (E111)
position_score hg19/scores/fitCons2/FitCons2_E112 0 6 219.86 MB Cell-type specific FitCons scores for Thymus (E112)
position_score hg19/scores/fitCons2/FitCons2_E113 0 6 219.14 MB Cell-type specific FitCons scores for Spleen (E113)
position_score hg19/scores/fitCons2/FitCons2_E114 0 6 214.49 MB Cell-type specific FitCons scores for Fetal NH-A Astrocytes Primary Cells (E114)
position_score hg19/scores/fitCons2/FitCons2_E115 0 6 214.29 MB Cell-type specific FitCons scores for Dnd41 TCell Leukemia Cell Line (E115)
position_score hg19/scores/fitCons2/FitCons2_E116 0 6 234.45 MB Cell-type specific FitCons scores for GM12878 Lymphoblastoid Cells (E116)
position_score hg19/scores/fitCons2/FitCons2_E117 0 6 212.66 MB Cell-type specific FitCons scores for Monocytes-CD14+ RO01746 Primary Cells (E117)
position_score hg19/scores/fitCons2/FitCons2_E118 0 6 213.16 MB Cell-type specific FitCons scores for HepG2 Hepatocellular Carcinoma Cell Line (E118)
position_score hg19/scores/fitCons2/FitCons2_E119 0 6 203.69 MB Cell-type specific FitCons scores for HMEC Mammary Epithelial Primary Cells (E119)
position_score hg19/scores/fitCons2/FitCons2_E120 0 6 232.41 MB Cell-type specific FitCons scores for HSMM Skeletal Muscle Myoblasts Cells (E120)
position_score hg19/scores/fitCons2/FitCons2_E121 0 6 214.79 MB Cell-type specific FitCons scores for HSMM cell derived Skeletal Muscle Myotubes Cells (E121)
position_score hg19/scores/fitCons2/FitCons2_E122 0 6 206.16 MB Cell-type specific FitCons scores for HUVEC Umbilical Vein Endothelial Primary Cells (E122)
position_score hg19/scores/fitCons2/FitCons2_E123 0 6 228.66 MB Cell-type specific FitCons scores for K562 Leukemia Cells (E123)
position_score hg19/scores/fitCons2/FitCons2_E124 0 6 228.02 MB Cell-type specific FitCons scores for Monocytes-CD14+ RO01746 Primary Cells (E124)
position_score hg19/scores/fitCons2/FitCons2_E125 0 6 224.44 MB Cell-type specific FitCons scores for NH-A Astrocytes Primary Cells (E125)
position_score hg19/scores/fitCons2/FitCons2_E126 0 6 221.34 MB Cell-type specific FitCons scores for NHDF-Ad Adult Dermal Fibroblast Primary Cells (E126)
position_score hg19/scores/fitCons2/FitCons2_E127 0 6 211.12 MB Cell-type specific FitCons scores for NHEK-Epidermal Keratinocyte Primary Cells (E127)
position_score hg19/scores/fitCons2/FitCons2_E128 0 6 208.33 MB Cell-type specific FitCons scores for HSMM Skeletal Muscle Myoblasts Cells Amnion (E128)
position_score hg19/scores/fitCons2/FitCons2_E129 0 6 227.88 MB Cell-type specific FitCons scores for Osteoblast Primary Cells (E129)
position_score hg19/scores/phastCons46_placentals 0 8 10.55 GB phastCons46_placentals is a conservation score based on the placental mammal subset of species
position_score hg19/scores/phastCons46_primates 0 8 14.02 GB phastCons46_primates is a conservation score based on the primates subset of species
position_score hg19/scores/phastCons46_vertebrates 0 8 10.81 GB phastCons46_vertebrates is a conservation score based on a multiple alignments of 45 vertebrate genomes to the human genome.
position_score hg19/scores/phyloP46_placentals 0 8 14.62 GB phyloP (phylogenetic p-values) conservation score based on the multiple alignments of the placental mammal species
position_score hg19/scores/phyloP46_primates 0 8 10.81 GB phyloP (phylogenetic p-values) conservation score based on the multiple alignments of the primate species
position_score hg19/scores/phyloP46_vertebrates 0 8 14.72 GB phyloP (phylogenetic p-values) conservation score based on the multiple alignments of 46 vertebrate genomes
allele_score hg19/variant_frequencies/gnomAD_v2.1.1/exomes 0 32 959.45 MB gnomAD exomes v2.1.1 variants build from ~260,000 whole exome samples published by the Broad Institute.
allele_score hg19/variant_frequencies/gnomAD_v2.1.1/genomes 0 31 12.27 GB gnomAD genomes v2.1.1 variants build from ~32,000 whole genome sequencing samples published by the Broad Institute.
gene_score hg38/enrichment/coding_length_ref_gene_v20170601 0 5 159.17 KB Coding length enrichment background using refGene gene models for HG38 from 20170601
gene_score hg38/enrichment/ur_synonymous_AGRE_WG38_859 0 5 176.64 KB Ultra rare synonymous enrichment background build from AGRE WGS CSHL.
gene_score hg38/enrichment/ur_synonymous_SFARI_SSC_WGS_2 0 5 188.58 KB Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC.
gene_score hg38/enrichment/ur_synonymous_SFARI_SSC_WGS_CSHL 0 5 188.04 KB Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC.
gene_score hg38/enrichment/ur_synonymous_iWES_v1_1 0 5 194.73 KB Ultra rare synonymous enrichment background build from SPARK iWES v1.1.
gene_score hg38/enrichment/ur_synonymous_iWES_v2 0 5 197.83 KB Ultra rare synonymous enrichment background build from SPARK iWES v2.
gene_score hg38/enrichment/ur_synonymous_iWGS_v1_1 0 5 194.88 KB Ultra rare synonymous enrichment background build from SPARK iWGS v1.1.
gene_score hg38/enrichment/ur_synonymous_w1202s766e611_liftover 0 5 180.27 KB Ultra rare synonymous enrichment background build from SFARI SSC WES CSHL liftover.
gene_models hg38/gene_models/GENCODE/34/basic/ALL 0 8 36.64 MB GENCODE 34, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes)
gene_models hg38/gene_models/GENCODE/34/basic/CHR 0 8 33.62 MB GENCODE 34, basic gene annotation on the reference chromosomes only
gene_models hg38/gene_models/GENCODE/34/comprehensive/ALL 0 8 60.26 MB GENCODE 34, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes)
gene_models hg38/gene_models/GENCODE/34/comprehensive/CHR 0 8 55.62 MB GENCODE 34, comprehensive gene annotation on the reference chromosomes only
gene_models hg38/gene_models/GENCODE/34/comprehensive/PRI 0 8 55.63 MB GENCODE 34, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions
gene_models hg38/gene_models/GENCODE/46/basic/ALL 0 8 41.47 MB GENCODE 46, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes)
gene_models hg38/gene_models/GENCODE/46/basic/CHR 0 8 38.04 MB GENCODE 46, basic gene annotation on the reference chromosomes only
gene_models hg38/gene_models/GENCODE/46/basic/PRI 0 8 38.05 MB GENCODE 46, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions
gene_models hg38/gene_models/GENCODE/46/comprehensive/ALL 0 8 69.71 MB GENCODE 46, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes)
gene_models hg38/gene_models/GENCODE/46/comprehensive/CHR 0 8 64.42 MB GENCODE 46, comprehensive gene annotation on the reference chromosomes only
gene_models hg38/gene_models/GENCODE/46/comprehensive/PRI 0 8 64.44 MB GENCODE 46, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions
gene_models hg38/gene_models/MANE/0.5 0 8 5.51 MB MANE gene model version 0.5
gene_models hg38/gene_models/MANE/0.6 0 8 6.09 MB MANE gene model version 0.6
gene_models hg38/gene_models/MANE/0.7 0 8 6.43 MB MANE gene model version 0.7
gene_models hg38/gene_models/MANE/0.8 0 8 6.94 MB MANE gene model version 0.8
gene_models hg38/gene_models/MANE/0.9 0 8 7.48 MB MANE gene model version 0.9
gene_models hg38/gene_models/MANE/0.91 0 8 8.39 MB MANE gene model version 0.91
gene_models hg38/gene_models/MANE/0.92 0 8 8.71 MB MANE gene model version 0.92
gene_models hg38/gene_models/MANE/0.93 0 8 9.18 MB MANE gene model version 0.93
gene_models hg38/gene_models/MANE/0.95 0 8 9.65 MB MANE gene model version 0.95
gene_models hg38/gene_models/MANE/1.0 0 8 9.92 MB MANE gene model version 1.0
gene_models hg38/gene_models/MANE/1.1 0 8 10.82 MB MANE gene model version 1.1
gene_models hg38/gene_models/MANE/1.2 0 8 10.86 MB MANE gene model version 1.2
gene_models hg38/gene_models/MANE/1.3 0 8 10.88 MB MANE gene model version 1.3
gene_models hg38/gene_models/refGene_v20170601 0 5 5.45 MB refSeq gene models for HG38 from 20170601
gene_models hg38/gene_models/refSeq_v20200330 0 5 4.19 MB refSeq gene models for HG38 from 2020-03 Default gene models used by GPF for HG38.
gene_models hg38/gene_models/refSeq_v20240129 0 5 7.03 MB refSeq gene models for HG38 from 2024-01-29
genome hg38/genomes/GRCh38-hg38 0 3374 3.04 GB HG38 reference genome
genome hg38/genomes/GRCh38.p13 0 646 3.09 GB Nucleotide sequence of the GRCh38.p13 genome assembly
genome hg38/genomes/GRCh38.p14 0 715 3.95 GB Nucleotide sequence of the GRCh38.p14 genome assembly
np_score hg38/scores/AlphaMissense 0 13 1.17 GB Functional impact of mutations on protein function
np_score hg38/scores/CADD_v1.4 0 18 79.42 GB CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP
np_score hg38/scores/CADD_v1.6 0 12 80.65 GB CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP
np_score hg38/scores/CADD_v1.7 0 10 81.47 GB CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP
allele_score hg38/scores/ClinVar_20240730 0 69 1.29 GB Measure used to assess the clinical significance of genetic variants
allele_score hg38/scores/clinvar_20221105 0 44 115.33 MB Measure used to assess the clinical significance of genetic variants
position_score hg38/scores/phastCons100way 0 6 5.48 GB Conservation score based on the multiple alignment of 100 species
position_score hg38/scores/phastCons20way 0 6 6.63 GB Conservation score based on the multiple alignment of 20 species
position_score hg38/scores/phastCons30way 0 6 6.59 GB Conservation score based on the multiple alignment of 30 species
position_score hg38/scores/phastCons7way 0 6 7.19 GB Conservation score based on the multiple alignment of 7 species
position_score hg38/scores/phyloP100way 0 6 9.19 GB Conservation score based on the multiple alignment of 100 species
position_score hg38/scores/phyloP20way 0 6 7.33 GB Conservation score based on the multiple alignment of 20 species
position_score hg38/scores/phyloP30way 0 6 7.82 GB Conservation score based on the multiple alignment of 30 species
position_score hg38/scores/phyloP7way 0 6 5.25 GB Conservation score based on the multiple alignment of 7 species
allele_score hg38/variant_frequencies/SSC_WG38_CSHL_2380 0 12 783.71 MB Exported from SFARI_SSC_WGS_CSHL using `gpf_validation_data/data_hg38/exports/SFARI_SSC_WGS_CSHL_frequency`.
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/ALL 0 21 1.32 GB gnomAD v4.1.0 exome variants (ALL)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/afr 0 21 172.93 MB gnomAD v4.1.0 exome variants (African/African American)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/amr 0 21 171.31 MB gnomAD v4.1.0 exome variants (Ad Mixed American)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/asj 0 21 56.02 MB gnomAD v4.1.0 exome variants (Ashkenazi Jewish)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/eas 0 21 149.25 MB gnomAD v4.1.0 exome variants (East Asian)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/fin 0 21 90.38 MB gnomAD v4.1.0 exome variants (Finnish)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/mid 0 21 62.78 MB gnomAD v4.1.0 exome variants (Middle Eastern)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/nfe 0 21 916.58 MB gnomAD v4.1.0 exome variants (Non-Finnish European)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/exomes/sas 0 21 277.15 MB gnomAD v4.1.0 exome variants (South Asian)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/ALL 0 21 10.47 GB gnomAD v4.1.0 genome variants (ALL)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/afr 0 21 5.98 GB gnomAD v4.1.0 genome variants (African/African American)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/amr 0 21 4.0 GB gnomAD v4.1.0 genome variants (Ad Mixed American)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/asj 0 21 2.27 GB gnomAD v4.1.0 genome variants (Ashkenazi Jewish)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/eas 0 21 3.03 GB gnomAD v4.1.0 genome variants (East Asian)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/fin 0 21 2.86 GB gnomAD v4.1.0 genome variants (Finnish)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/mid 0 21 1.93 GB gnomAD v4.1.0 genome variants (Middle Eastern)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/nfe 0 21 5.75 GB gnomAD v4.1.0 genome variants (Non-Finnish European)
allele_score hg38/variant_frequencies/gnomAD_4.1.0/genomes/sas 0 21 3.04 GB gnomAD v4.1.0 genome variants (South Asian)
allele_score hg38/variant_frequencies/gnomAD_v2.1.1_liftover/exomes 0 35 928.27 MB Liftover of gnomAD exomes v2.1.1 to hg38.
allele_score hg38/variant_frequencies/gnomAD_v2.1.1_liftover/genomes 0 35 11.53 GB Liftover of gnomAD genomes v2.1.1 to hg38.
allele_score hg38/variant_frequencies/gnomAD_v3/genomes 0 18 17.64 GB gnomAD v3.0 variants built from ~150,000 samples with whole genome sequence data.
liftover_chain liftover/hg19ToHg38 0 6 450.24 KB Liftover Chain Hg19 to Hg38
liftover_chain liftover/hg38ToHg19 0 6 2.4 MB Liftover Chain Hg38 to Hg19
annotation_pipeline pipeline/Clinical_annotation 0 3 3.39 KB Clinical Annotation Pipeline
annotation_pipeline pipeline/GPF-SFARI_annotation 0 3 2.9 KB GPF-SFARI Production Annotation Pipeline