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| Type | ID | Version | Total size (bytes) | Summary |
|---|---|---|---|---|
| samocha_enrichment_background | 0 | 1.38 MB | SamochaEtAl2014 Enrichment Background Model | |
| gene_score | 0 | 7.8 MB | Probability of a gene to be associated with autism | |
| gene_score | 0 | 11.84 MB | Probability of a gene to be associated with autism | |
| gene_score | 0 | 576.07 KB | Gene vulnerability/intolerance score based on the rare LGD variants | |
| gene_score | 0 | 13.18 MB | Degree of intolerance to predicted Loss-of-Function (pLoF) variation | |
| gene_score | 0 | 505.9 KB | Residual Variation Intolerance Score | |
| gene_score | 0 | 147.38 KB | SFARI gene score release 01-13-2021 | |
| gene_score | 0 | 194.02 KB | SFARI gene score 2024 Q1 release | |
| gene_score | 0 | 616.3 KB | TADA derived gene-autism association score | |
| gene_score | 0 | 1.55 MB | Residual Variation Intolerance Score | |
| gene_score | 0 | 6.39 MB | TADA derived gene-autism association score | |
| gene_score | 0 | 6.16 MB | Probability of Loss-of-Function Intolerance | |
| gene_score | 0 | 6.22 MB | Probability of LoF tolerance | |
| gene_score | 0 | 6.18 MB | Probability of recessive LoF sensitivity | |
| gene_score | 0 | 904.03 KB | Probability of Loss-of-Function Intolerance | |
| gene_score | 0 | 897.56 KB | Probability of biallelic loss-of-function intolerance | |
| gene_set_collection | 0 | 13.43 MB | GO (Gene Ontology) gene sets | |
| gene_set_collection | 0 | 65.0 MB | GO terms 2024-06-17 release | |
| gene_set_collection | 0 | 109.65 MB | GO terms 2024-06-17 release | |
| gene_set_collection | 0 | 68.21 MB | GO terms 2025-07-22 release | |
| gene_set_collection | 0 | 111.93 MB | GO terms 2025-07-22 release | |
| gene_set_collection | 0 | 3.84 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources | |
| gene_set_collection | 0 | 4.72 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources | |
| gene_set_collection | 0 | 4.74 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources | |
| gene_set_collection | 0 | 4.8 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources | |
| gene_set_collection | 0 | 3.4 MB | PFAM 37.0 domains | |
| gene_set_collection | 0 | 32.38 KB | Autism gene sets derived from publications | |
| gene_set_collection | 0 | 206.37 KB | Gene-disease associations | |
| gene_set_collection | 0 | 4.7 MB | gene2phenotype 28_08_2024 release | |
| gene_set_collection | 0 | 1.64 MB | miRNA target sets | |
| gene_set_collection | 0 | 131.31 KB | miRNA target sets by Darnell | |
| gene_set_collection | 0 | 137.64 KB | Variety of gene sets with potential relevance to autism | |
| gene_set_collection | 0 | 38.22 KB | SFARI gene sets with relevance to autism | |
| gene_set_collection | 0 | 25.79 KB | SPARK gene sets with relevance to autism | |
| gene_score | 0 | 127.85 KB | Coding length in target enrichment background using refGene gene models for HG19 from 20190211 | |
| gene_score | 0 | 180.78 KB | Coding length enrichment background using refGene gene models for HG19 from 20190211 | |
| gene_models | 0 | 2.56 MB | CCDS (Consensus CDS) gene model 2013 | |
| gene_models | 0 | 5.5 MB | knownGene gene model 2013 | |
| gene_models | 0 | 3.98 MB | RefGene gene model 2013 with mitochondrial genes | |
| gene_models | 0 | 3.98 MB | RefGene gene model 2013 | |
| gene_models | 0 | 5.47 MB | RefGene gene model 2019 | |
| genome | 0 | 2.94 GB | HG19 reference genome | |
| allele_score | 0 | 1.15 GB | Functional impact of mutations on protein function | |
| allele_score | 0 | 79.37 GB | CADD score for functional prediction of a SNP | |
| position_score | 0 | 105.18 MB | fitCons (fitness consequences) score estimates selective pressure on genomic positions. | |
| position_score | 0 | 291.53 MB | FitCons2 score computed for the Primary haematopoietic stem cells (HSCs) (E035). | |
| position_score | 0 | 260.98 MB | Cell-type specific FitCons scores for Brain Angular Gyrus tissue (E067). | |
| position_score | 0 | 270.24 MB | Cell-type specific FitCons scores for Brain Anterior Caudate tissue (E068). | |
| position_score | 0 | 262.14 MB | Cell-type specific FitCons scores for Brain Cingulate Gyrus tissue (E069). | |
| position_score | 0 | 262.33 MB | Cell-type specific FitCons scores for Brain Germinal Matrix tissue (E070). | |
| position_score | 0 | 255.47 MB | Cell-type specific FitCons scores for Brain Hippocampus Middle tissue (E071). | |
| position_score | 0 | 257.62 MB | Cell-type specific FitCons scores for Brain Inferior Temporal Lobe tissue (E072). | |
| position_score | 0 | 266.96 MB | FitCons2 score computed for the Brain Dorsolateral Prefrontal Cortex (E073) tissue. | |
| position_score | 0 | 262.13 MB | Cell-type specific FitCons scores for Brain Substantia Nigra tissue (E074). | |
| position_score | 0 | 276.05 MB | Cell-type specific FitCons scores for Fetal Brain Male tissue (E081). | |
| position_score | 0 | 278.89 MB | Cell-type specific FitCons scores for Fetal Brain Female tissue (E082). | |
| position_score | 0 | 1.3 GB | The likelihood of negative selection on noncoding sites | |
| allele_score | 0 | 2.26 GB | MPC (Missense badness, PolyPhen-2, and Constraint) is a composite score that predicts the impact of missense variants. | |
| position_score | 0 | 230.6 MB | Cell-type specific FitCons scores for ES-I3 Cells (E001) | |
| position_score | 0 | 234.05 MB | Cell-type specific FitCons scores for ES-WA7 Cells (E002) | |
| position_score | 0 | 231.79 MB | Cell-type specific FitCons scores for H1 Cells (E003) | |
| position_score | 0 | 220.58 MB | Cell-type specific FitCons scores for H1 BMP4 Derived Mesendoderm Cultured Cells (E004) | |
| position_score | 0 | 197.38 MB | Cell-type specific FitCons scores for H1 BMP4 Derived Trophoblast Cultured Cells (E005) | |
| position_score | 0 | 187.59 MB | Cell-type specific FitCons scores for H1 Derived Mesenchymal Stem Cells (E006) | |
| position_score | 0 | 219.95 MB | Cell-type specific FitCons scores for H1 Derived Neuronal Progenitor Cultured Cells (E007) | |
| position_score | 0 | 227.43 MB | Cell-type specific FitCons scores for H9 Cells (E008) | |
| position_score | 0 | 224.8 MB | Cell-type specific FitCons scores for H9 Derived Neuronal Progenitor Cultured Cells (E009) | |
| position_score | 0 | 214.44 MB | Cell-type specific FitCons scores for H9 Derived Neuron Cultured Cells (E010) | |
| position_score | 0 | 214.45 MB | Cell-type specific FitCons scores for hESC Derived CD184+ Endoderm Cultured Cells (E011) | |
| position_score | 0 | 229.97 MB | Cell-type specific FitCons scores for hESC Derived CD56+ Ectoderm Cultured Cells (E012) | |
| position_score | 0 | 216.21 MB | Cell-type specific FitCons scores for hESC Derived CD56+ Mesoderm Cultured Cells (E013) | |
| position_score | 0 | 227.54 MB | Cell-type specific FitCons scores for HUES48 Cells (E014) | |
| position_score | 0 | 230.71 MB | Cell-type specific FitCons scores for HUES6 Cells (E015) | |
| position_score | 0 | 225.76 MB | Cell-type specific FitCons scores for HUES64 Cells (E016) | |
| position_score | 0 | 218.4 MB | Cell-type specific FitCons scores for Liver (E017) | |
| position_score | 0 | 234.95 MB | Cell-type specific FitCons scores for iPS-15b Cells (E018) | |
| position_score | 0 | 237.22 MB | Cell-type specific FitCons scores for iPS-18 Cells (E019) | |
| position_score | 0 | 240.49 MB | Cell-type specific FitCons scores for iPS-20b Cells (E020) | |
| position_score | 0 | 214.32 MB | Cell-type specific FitCons scores for iPS DF 6.9 Cells (E021) | |
| position_score | 0 | 199.62 MB | Cell-type specific FitCons scores for iPS DF 19.11 Cells (E022) | |
| position_score | 0 | 214.67 MB | Cell-type specific FitCons scores for Mesenchymal Stem Cell Derived Adipocyte Cultured Cells (E023) | |
| position_score | 0 | 223.0 MB | Cell-type specific FitCons scores for ES-UCSF4 Cells (E024) | |
| position_score | 0 | 228.85 MB | Cell-type specific FitCons scores for Adipose Derived Mesenchymal Stem Cell Cultured Cells (E025) | |
| position_score | 0 | 212.77 MB | Cell-type specific FitCons scores for Bone Marrow Derived Cultured Mesenchymal Stem Cells (E026) | |
| position_score | 0 | 213.05 MB | Cell-type specific FitCons scores for Breast Myoepithelial Primary Cells (E027) | |
| position_score | 0 | 213.67 MB | Cell-type specific FitCons scores for Breast variant Human Mammary Epithelial Cells (vHMEC) (E028) | |
| position_score | 0 | 220.18 MB | Cell-type specific FitCons scores for Primary monocytes from peripheral blood (E029) | |
| position_score | 0 | 234.5 MB | Cell-type specific FitCons scores for Primary neutrophils from peripheral blood (E030) | |
| position_score | 0 | 263.52 MB | Cell-type specific FitCons scores for Primary B cells from cord blood (E031) | |
| position_score | 0 | 234.78 MB | Cell-type specific FitCons scores for Primary B cells from peripheral blood (E032) | |
| position_score | 0 | 252.22 MB | Cell-type specific FitCons scores for Primary T cells from cord blood (E033) | |
| position_score | 0 | 223.65 MB | Cell-type specific FitCons scores for Primary T cells from peripheral blood (E034) | |
| position_score | 0 | 233.55 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells (E035) | |
| position_score | 0 | 211.79 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells short term culture Cells (E036) | |
| position_score | 0 | 221.83 MB | Cell-type specific FitCons scores for Primary T helper memory cells from peripheral blood 2 (E037) | |
| position_score | 0 | 213.5 MB | Cell-type specific FitCons scores for Primary T helper naive cells from peripheral blood (E038) | |
| position_score | 0 | 231.12 MB | Cell-type specific FitCons scores for Primary T helper naive cells from peripheral blood (E039) | |
| position_score | 0 | 262.61 MB | Cell-type specific FitCons scores for Primary T helper memory cells from peripheral blood 1 (E040) | |
| position_score | 0 | 230.91 MB | Cell-type specific FitCons scores for Primary T helper cells PMA-I stimulated (E041) | |
| position_score | 0 | 240.82 MB | Cell-type specific FitCons scores for Primary T helper 17 cells PMA-I stimulated (E042) | |
| position_score | 0 | 247.45 MB | Cell-type specific FitCons scores for Primary T helper cells from peripheral blood (E043) | |
| position_score | 0 | 245.95 MB | Cell-type specific FitCons scores for Primary T regulatory cells from peripheral blood (E044) | |
| position_score | 0 | 235.57 MB | Cell-type specific FitCons scores for Primary T cells effector/memory enriched from peripheral blood (E045) | |
| position_score | 0 | 230.03 MB | Cell-type specific FitCons scores for Primary Natural Killer cells from peripheral blood (E046) | |
| position_score | 0 | 230.97 MB | Cell-type specific FitCons scores for Primary T CD8+ naive cells from peripheral blood (E047) | |
| position_score | 0 | 234.84 MB | Cell-type specific FitCons scores for Primary T CD8+ memory cells from peripheral blood (E048) | |
| position_score | 0 | 211.48 MB | Cell-type specific FitCons scores for Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells (E049) | |
| position_score | 0 | 210.32 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells G-CSF-mobilized Female (E050) | |
| position_score | 0 | 252.44 MB | Cell-type specific FitCons scores for Primary hematopoietic stem cells G-CSF-mobilized Male (E051) | |
| position_score | 0 | 223.16 MB | Cell-type specific FitCons scores for Muscle Satellite Cultured Cells (E052) | |
| position_score | 0 | 214.04 MB | Cell-type specific FitCons scores for Cortex derived primary cultured neurospheres (E053) | |
| position_score | 0 | 207.21 MB | Cell-type specific FitCons scores for Ganglion Eminence derived primary cultured neurospheres (E054) | |
| position_score | 0 | 212.6 MB | Cell-type specific FitCons scores for Foreskin Fibroblast Primary Cells skin01 (E055) | |
| position_score | 0 | 210.57 MB | Cell-type specific FitCons scores for Foreskin Fibroblast Primary Cells skin02 (E056) | |
| position_score | 0 | 212.04 MB | Cell-type specific FitCons scores for Foreskin Keratinocyte Primary Cells skin02 (E057) | |
| position_score | 0 | 213.35 MB | Cell-type specific FitCons scores for Foreskin Keratinocyte Primary Cells skin03 (E058) | |
| position_score | 0 | 213.1 MB | Cell-type specific FitCons scores for Foreskin Melanocyte Primary Cells skin01 (E059) | |
| position_score | 0 | 213.52 MB | Cell-type specific FitCons scores for Foreskin Melanocyte Primary Cells skin03 (E061) | |
| position_score | 0 | 204.92 MB | Cell-type specific FitCons scores for Primary mononuclear cells from peripheral blood (E062) | |
| position_score | 0 | 203.35 MB | Cell-type specific FitCons scores for Adipose Nuclei (E063) | |
| position_score | 0 | 211.95 MB | Cell-type specific FitCons scores for Aorta (E065) | |
| position_score | 0 | 221.49 MB | Cell-type specific FitCons scores for Liver (E066) | |
| position_score | 0 | 208.67 MB | Cell-type specific FitCons scores for Brain Angular Gyrus (E067) | |
| position_score | 0 | 214.79 MB | Cell-type specific FitCons scores for E68 Brain Anterior Caudate (E068) | |
| position_score | 0 | 209.34 MB | Cell-type specific FitCons scores for Brain Cingulate Gyrus (E069) | |
| position_score | 0 | 208.97 MB | Cell-type specific FitCons scores for Brain Germinal Matrix (E070) | |
| position_score | 0 | 203.49 MB | Cell-type specific FitCons scores for Brain Hippocampus Middle (E071) | |
| position_score | 0 | 206.07 MB | Cell-type specific FitCons scores for Brain Inferior Temporal Lobe (E072) | |
| position_score | 0 | 214.21 MB | Cell-type specific FitCons scores for Brain_Dorsolateral_Prefrontal_Cortex (E073) | |
| position_score | 0 | 209.33 MB | Cell-type specific FitCons scores for Brain Substantia Nigra (E074) | |
| position_score | 0 | 204.3 MB | Cell-type specific FitCons scores for Colonic Mucosa (E075) | |
| position_score | 0 | 231.19 MB | Cell-type specific FitCons scores for Colon Smooth Muscle (E076) | |
| position_score | 0 | 230.97 MB | Cell-type specific FitCons scores for Duodenum Mucosa (E077) | |
| position_score | 0 | 207.21 MB | Cell-type specific FitCons scores for Duodenum Smooth Muscle (E078) | |
| position_score | 0 | 198.02 MB | Cell-type specific FitCons scores for Esophagus (E079) | |
| position_score | 0 | 206.79 MB | Cell-type specific FitCons scores for Fetal Adrenal Gland (E080) | |
| position_score | 0 | 221.55 MB | Cell-type specific FitCons scores for Fetal Brain Male (E081) | |
| position_score | 0 | 223.59 MB | Cell-type specific FitCons scores for Fetal Brain Female (E082) | |
| position_score | 0 | 224.11 MB | Cell-type specific FitCons scores for Fetal Heart (E083) | |
| position_score | 0 | 225.24 MB | Cell-type specific FitCons scores for Fetal Intestine Large (E084) | |
| position_score | 0 | 229.31 MB | Cell-type specific FitCons scores for Fetal Intestine Small (E085) | |
| position_score | 0 | 231.56 MB | Cell-type specific FitCons scores for Fetal Kidney (E086) | |
| position_score | 0 | 226.19 MB | Cell-type specific FitCons scores for Pancreatic Islets (E087) | |
| position_score | 0 | 219.94 MB | Cell-type specific FitCons scores for Fetal Lung (E088) | |
| position_score | 0 | 209.56 MB | Cell-type specific FitCons scores for Fetal Muscle Trunk (E089) | |
| position_score | 0 | 205.42 MB | Cell-type specific FitCons scores for Fetal Muscle Leg (E090) | |
| position_score | 0 | 194.41 MB | Cell-type specific FitCons scores for Placenta (E091) | |
| position_score | 0 | 209.39 MB | Cell-type specific FitCons scores for Fetal Stomach (E092) | |
| position_score | 0 | 212.49 MB | Cell-type specific FitCons scores for Fetal Thymus (E093) | |
| position_score | 0 | 206.44 MB | Cell-type specific FitCons scores for Gastric (E094) | |
| position_score | 0 | 180.93 MB | Cell-type specific FitCons scores for E68 Left Ventricle (E095) | |
| position_score | 0 | 192.91 MB | Cell-type specific FitCons scores for Lung (E096) | |
| position_score | 0 | 218.9 MB | Cell-type specific FitCons scores for Ovary (E097) | |
| position_score | 0 | 206.07 MB | Cell-type specific FitCons scores for Pancreas (E098) | |
| position_score | 0 | 219.45 MB | Cell-type specific FitCons scores for Placenta Amnion (E099) | |
| position_score | 0 | 197.09 MB | Cell-type specific FitCons scores for Psoas Muscle (E100) | |
| position_score | 0 | 224.7 MB | Cell-type specific FitCons scores for Rectal Mucosa Donor 29 (E101) | |
| position_score | 0 | 220.15 MB | Cell-type specific FitCons scores for Rectal Mucosa Donor 31 (E102) | |
| position_score | 0 | 219.34 MB | Cell-type specific FitCons scores for Rectal Smooth Muscle (E103) | |
| position_score | 0 | 205.04 MB | Cell-type specific FitCons scores for Right Atrium (E104) | |
| position_score | 0 | 202.39 MB | Cell-type specific FitCons scores for Right Ventricle (E105) | |
| position_score | 0 | 225.57 MB | Cell-type specific FitCons scores for Sigmoid Colon (E106) | |
| position_score | 0 | 221.47 MB | Cell-type specific FitCons scores for Skeletal Muscle Male (E107) | |
| position_score | 0 | 223.37 MB | Cell-type specific FitCons scores for Skeletal Muscle Female (E108) | |
| position_score | 0 | 203.11 MB | Cell-type specific FitCons scores for Small Intestine (E109) | |
| position_score | 0 | 220.29 MB | Cell-type specific FitCons scores for Stomach Mucosa (E110) | |
| position_score | 0 | 205.23 MB | Cell-type specific FitCons scores for Stomach Smooth Muscle (E111) | |
| position_score | 0 | 219.86 MB | Cell-type specific FitCons scores for Thymus (E112) | |
| position_score | 0 | 219.14 MB | Cell-type specific FitCons scores for Spleen (E113) | |
| position_score | 0 | 214.49 MB | Cell-type specific FitCons scores for Fetal NH-A Astrocytes Primary Cells (E114) | |
| position_score | 0 | 214.29 MB | Cell-type specific FitCons scores for Dnd41 TCell Leukemia Cell Line (E115) | |
| position_score | 0 | 234.45 MB | Cell-type specific FitCons scores for GM12878 Lymphoblastoid Cells (E116) | |
| position_score | 0 | 212.66 MB | Cell-type specific FitCons scores for Monocytes-CD14+ RO01746 Primary Cells (E117) | |
| position_score | 0 | 213.16 MB | Cell-type specific FitCons scores for HepG2 Hepatocellular Carcinoma Cell Line (E118) | |
| position_score | 0 | 203.69 MB | Cell-type specific FitCons scores for HMEC Mammary Epithelial Primary Cells (E119) | |
| position_score | 0 | 232.41 MB | Cell-type specific FitCons scores for HSMM Skeletal Muscle Myoblasts Cells (E120) | |
| position_score | 0 | 214.79 MB | Cell-type specific FitCons scores for HSMM cell derived Skeletal Muscle Myotubes Cells (E121) | |
| position_score | 0 | 206.16 MB | Cell-type specific FitCons scores for HUVEC Umbilical Vein Endothelial Primary Cells (E122) | |
| position_score | 0 | 228.66 MB | Cell-type specific FitCons scores for K562 Leukemia Cells (E123) | |
| position_score | 0 | 228.02 MB | Cell-type specific FitCons scores for Monocytes-CD14+ RO01746 Primary Cells (E124) | |
| position_score | 0 | 224.44 MB | Cell-type specific FitCons scores for NH-A Astrocytes Primary Cells (E125) | |
| position_score | 0 | 221.34 MB | Cell-type specific FitCons scores for NHDF-Ad Adult Dermal Fibroblast Primary Cells (E126) | |
| position_score | 0 | 211.12 MB | Cell-type specific FitCons scores for NHEK-Epidermal Keratinocyte Primary Cells (E127) | |
| position_score | 0 | 208.33 MB | Cell-type specific FitCons scores for HSMM Skeletal Muscle Myoblasts Cells Amnion (E128) | |
| position_score | 0 | 227.88 MB | Cell-type specific FitCons scores for Osteoblast Primary Cells (E129) | |
| position_score | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using placental species | |
| position_score | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using primate species | |
| position_score | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using vertebrate species | |
| position_score | 0 | 10.55 GB | phastCons46_placentals is a conservation score based on the placental mammal subset of species | |
| position_score | 0 | 14.02 GB | phastCons46_primates is a conservation score based on the primates subset of species | |
| position_score | 0 | 10.81 GB | phastCons46_vertebrates is a conservation score based on a multiple alignments of 45 vertebrate genomes to the human genome. | |
| position_score | 0 | 8.02 GB | Conservation score based on the multiple alignment of 46 species using placental species | |
| position_score | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using primate species | |
| position_score | 0 | 20.18 GB | Conservation score based on the multiple alignment of 46 species using vertebrate species | |
| position_score | 0 | 14.62 GB | phyloP (phylogenetic p-values) conservation score based on the multiple alignments of the placental mammal species | |
| position_score | 0 | 10.81 GB | phyloP (phylogenetic p-values) conservation score based on the multiple alignments of the primate species | |
| position_score | 0 | 14.72 GB | phyloP (phylogenetic p-values) conservation score based on the multiple alignments of 46 vertebrate genomes | |
| allele_score | 0 | 959.45 MB | gnomAD exomes v2.1.1 variants build from ~260,000 whole exome samples published by the Broad Institute. | |
| allele_score | 0 | 12.27 GB | gnomAD genomes v2.1.1 variants build from ~32,000 whole genome sequencing samples published by the Broad Institute. | |
| cnv_collection | 0 | 414.62 MB | Database of Genomic Variants (DGV) CNV collection | |
| cnv_collection | 0 | 135.91 KB | ||
| cnv_collection | 0 | 109.39 KB | De novo CNVs from SSC and AGRE WGS | |
| cnv_collection | 0 | 50.94 KB | SFARI_Gene CNV collection | |
| cnv_collection | 0 | 43.41 MB | dbVar CNV collection | |
| cnv_collection | 0 | 105.31 MB | gnomAD v4.1 Exome CNV collection | |
| cnv_collection | 0 | 12.2 GB | gnomAD v4.1 Genome SV collection | |
| gene_score | 0 | 393.04 KB | Coding length enrichment background based on GENCODE v49 basic PRI gene models for HG38 | |
| gene_score | 0 | 178.22 KB | Coding length enrichment background based on refGene gene models for HG38 from 20170601 | |
| gene_score | 0 | 195.58 KB | Ultra rare synonymous enrichment background build from AGRE WGS CSHL. | |
| gene_score | 1 | 195.12 KB | Ultra rare synonymous enrichment background build from AGRE WGS CSHL. | |
| gene_score | 1 | 219.2 KB | Ultra rare synonymous enrichment background build from SPARK iWES v2. | |
| gene_score | 1 | 216.41 KB | Ultra rare synonymous enrichment background build from SPARK iWGS v1.1. | |
| gene_score | 1 | 117.58 KB | Ultra rare synonymous enrichment background build from SFARI SSC WES CSHL liftover. | |
| gene_score | 0 | 208.05 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. | |
| gene_score | 1 | 209.8 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. | |
| gene_score | 0 | 207.31 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. | |
| gene_score | 1 | 208.53 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. | |
| gene_score | 0 | 214.97 KB | Ultra rare synonymous enrichment background build from SPARK iWES v1.1. | |
| gene_score | 0 | 218.02 KB | Ultra rare synonymous enrichment background build from SPARK iWES v2. | |
| gene_score | 0 | 215.41 KB | Ultra rare synonymous enrichment background build from SPARK iWGS v1.1. | |
| gene_score | 0 | 200.49 KB | Ultra rare synonymous enrichment background build from SFARI SSC WES CSHL liftover. | |
| gene_models | 0 | 36.64 MB | GENCODE 34, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 33.62 MB | GENCODE 34, basic gene annotation on the reference chromosomes only | |
| gene_models | 0 | 60.26 MB | GENCODE 34, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 55.62 MB | GENCODE 34, comprehensive gene annotation on the reference chromosomes only | |
| gene_models | 0 | 55.63 MB | GENCODE 34, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 41.47 MB | GENCODE 46, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 38.04 MB | GENCODE 46, basic gene annotation on the reference chromosomes only | |
| gene_models | 0 | 38.05 MB | GENCODE 46, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 69.71 MB | GENCODE 46, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 64.42 MB | GENCODE 46, comprehensive gene annotation on the reference chromosomes only | |
| gene_models | 0 | 64.44 MB | GENCODE 46, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 46.74 MB | GENCODE 47, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 43.25 MB | GENCODE 47, basic gene annotation on the reference chromosomes only | |
| gene_models | 0 | 11.13 MB | GENCODE 47, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 82.36 MB | GENCODE 47, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 76.9 MB | GENCODE 47, comprehensive gene annotation on the reference chromosomes only | |
| gene_models | 0 | 77.09 MB | GENCODE 47, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 46.76 MB | GENCODE 48, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 43.24 MB | GENCODE 48, basic gene annotation on the reference chromosomes only | |
| gene_models | 0 | 43.31 MB | GENCODE 48, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 82.36 MB | GENCODE 48, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 76.87 MB | GENCODE 48, comprehensive gene annotation on the reference chromosomes only | |
| gene_models | 0 | 77.07 MB | GENCODE 48, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 83.97 MB | GENCODE 49, basic gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 80.45 MB | GENCODE 49, basic gene annotation on the reference chromosomes only | |
| gene_models | 0 | 80.53 MB | GENCODE 49, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 119.81 MB | GENCODE 49, comprehensive gene annotation on the reference chromosomes, scaffolds, assembly patches and alternate loci (haplotypes) | |
| gene_models | 0 | 114.31 MB | GENCODE 49, comprehensive gene annotation on the reference chromosomes only | |
| gene_models | 0 | 114.51 MB | GENCODE 49, comprehensive gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 5.51 MB | MANE gene model version 0.5 | |
| gene_models | 0 | 6.09 MB | MANE gene model version 0.6 | |
| gene_models | 0 | 6.43 MB | MANE gene model version 0.7 | |
| gene_models | 0 | 6.94 MB | MANE gene model version 0.8 | |
| gene_models | 0 | 7.48 MB | MANE gene model version 0.9 | |
| gene_models | 0 | 8.39 MB | MANE gene model version 0.91 | |
| gene_models | 0 | 8.71 MB | MANE gene model version 0.92 | |
| gene_models | 0 | 9.18 MB | MANE gene model version 0.93 | |
| gene_models | 0 | 9.65 MB | MANE gene model version 0.95 | |
| gene_models | 0 | 9.92 MB | MANE gene model version 1.0 | |
| gene_models | 0 | 10.82 MB | MANE gene model version 1.1 | |
| gene_models | 0 | 10.86 MB | MANE gene model version 1.2 | |
| gene_models | 0 | 10.88 MB | MANE gene model version 1.3 | |
| gene_models | 0 | 10.89 MB | MANE gene model version 1.4 | |
| gene_models | 0 | 5.45 MB | refSeq gene models for HG38 from 20170601 | |
| gene_models | 0 | 4.19 MB | refSeq gene models for HG38 from 2020-03 Default gene models used by GPF for HG38. | |
| gene_models | 0 | 7.03 MB | refSeq gene models for HG38 from 2024-01-29 | |
| genome | 0 | 3.04 GB | HG38 reference genome | |
| genome | 0 | 3.09 GB | Nucleotide sequence of the GRCh38.p13 genome assembly | |
| genome | 0 | 3.95 GB | Nucleotide sequence of the GRCh38.p14 genome assembly | |
| allele_score | 0 | 1.17 GB | Functional impact of mutations on protein function | |
| allele_score | 0 | 79.42 GB | CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP | |
| allele_score | 0 | 80.65 GB | CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP | |
| allele_score | 0 | 81.47 GB | CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP | |
| allele_score | 0 | 1.29 GB | Measure used to assess the clinical significance of genetic variants | |
| allele_score | 0 | 479.63 MB | Measure used to assess the clinical significance of genetic variants | |
| allele_score | 0 | 115.28 MB | Measure used to assess the clinical significance of genetic variants | |
| allele_score | 0 | 36.8 GB | dbNSFPv4.9a | |
| allele_score | 0 | 14.01 GB | dbSNP: A public database of genetic variations for research and clinical use. | |
| position_score | 0 | 5.48 GB | Conservation score based on the multiple alignment of 100 species | |
| position_score | 0 | 6.63 GB | Conservation score based on the multiple alignment of 20 species | |
| position_score | 0 | 6.59 GB | Conservation score based on the multiple alignment of 30 species | |
| position_score | 0 | 7.19 GB | Conservation score based on the multiple alignment of 7 species | |
| position_score | 0 | 9.19 GB | Conservation score based on the multiple alignment of 100 species | |
| position_score | 0 | 7.33 GB | Conservation score based on the multiple alignment of 20 species | |
| position_score | 0 | 7.82 GB | Conservation score based on the multiple alignment of 30 species | |
| position_score | 0 | 5.25 GB | Conservation score based on the multiple alignment of 7 species | |
| allele_score | 0 | 783.71 MB | Exported from SFARI_SSC_WGS_CSHL using `gpf_validation_data/data_hg38/exports/SFARI_SSC_WGS_CSHL_frequency`. | |
| allele_score | 0 | 1.32 GB | gnomAD v4.1.0 exome variants (ALL) | |
| allele_score | 0 | 172.93 MB | gnomAD v4.1.0 exome variants (African/African American) | |
| allele_score | 0 | 171.31 MB | gnomAD v4.1.0 exome variants (Ad Mixed American) | |
| allele_score | 0 | 56.02 MB | gnomAD v4.1.0 exome variants (Ashkenazi Jewish) | |
| allele_score | 0 | 149.25 MB | gnomAD v4.1.0 exome variants (East Asian) | |
| allele_score | 0 | 90.38 MB | gnomAD v4.1.0 exome variants (Finnish) | |
| allele_score | 0 | 62.78 MB | gnomAD v4.1.0 exome variants (Middle Eastern) | |
| allele_score | 0 | 916.58 MB | gnomAD v4.1.0 exome variants (Non-Finnish European) | |
| allele_score | 0 | 277.15 MB | gnomAD v4.1.0 exome variants (South Asian) | |
| allele_score | 0 | 10.47 GB | gnomAD v4.1.0 genome variants (ALL) | |
| allele_score | 0 | 5.98 GB | gnomAD v4.1.0 genome variants (African/African American) | |
| allele_score | 0 | 4.0 GB | gnomAD v4.1.0 genome variants (Ad Mixed American) | |
| allele_score | 0 | 2.27 GB | gnomAD v4.1.0 genome variants (Ashkenazi Jewish) | |
| allele_score | 0 | 3.03 GB | gnomAD v4.1.0 genome variants (East Asian) | |
| allele_score | 0 | 2.86 GB | gnomAD v4.1.0 genome variants (Finnish) | |
| allele_score | 0 | 1.93 GB | gnomAD v4.1.0 genome variants (Middle Eastern) | |
| allele_score | 0 | 5.75 GB | gnomAD v4.1.0 genome variants (Non-Finnish European) | |
| allele_score | 0 | 3.04 GB | gnomAD v4.1.0 genome variants (South Asian) | |
| allele_score | 0 | 928.27 MB | Liftover of gnomAD exomes v2.1.1 to hg38. | |
| allele_score | 0 | 11.53 GB | Liftover of gnomAD genomes v2.1.1 to hg38. | |
| allele_score | 0 | 17.64 GB | gnomAD v3.0 variants built from ~150,000 samples with whole genome sequence data. | |
| liftover_chain | 0 | 2.07 MB | Liftover Chain T2T to Hg19 | |
| liftover_chain | 0 | 2.08 MB | Liftover Chain T2T to Hg38 | |
| liftover_chain | 0 | 450.34 KB | Liftover Chain Hg19 to Hg38 | |
| liftover_chain | 0 | 2.07 MB | Liftover Chain Hg19 to T2T | |
| liftover_chain | 0 | 450.34 KB | Liftover Chain Hg19 to Hg38 | |
| liftover_chain | 0 | 2.4 MB | Liftover Chain Hg38 to Hg19 | |
| liftover_chain | 0 | 2.08 MB | Liftover Chain Hg38 to T2T | |
| liftover_chain | 0 | 2.4 MB | Liftover Chain Hg38 to Hg19 | |
| annotation_pipeline | 0 | 3.75 KB | Autism Annotation Pipeline | |
| annotation_pipeline | 0 | 2.37 KB | Clinical Annotation Pipeline | |
| annotation_pipeline | 0 | 3.02 KB | GPF-SFARI Production Annotation Pipeline | |
| annotation_pipeline | 0 | 1.87 KB | Annotation Pipeline used in the paper. | |
| annotation_pipeline | 0 | 2.99 KB | Clinical Annotation Pipeline for T2T coordinates | |
| annotation_pipeline | 0 | 2.54 KB | Clinical Annotation Pipeline for hg19 | |
| annotation_pipeline | 0 | 2.41 KB | Clinical Annotation Pipeline for hg38 | |
| gene_models | 0 | 45.3 MB | NCBI RefSeq 110, comprehensive gene annotation on the T2T-CHM13v2.0 assembly (gapless chromosomes, no alternate scaffolds). | |
| genome | 0 | 3.86 GB | Nucleotide sequence of the T2T-CHM13v2.0 genome assembly |