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Configure Tracks on UCSC Genome Browser: Human Dec. 2013 (GRCh38/hg38)
  Tracks:    Groups:
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-   Mapping and Sequencing    
Base Position Chromosome position in bases. (Clicks here zoom in 3x)
p14 Fix Patches Reference Assembly Fix Patch Sequence Alignments
p14 Alt Haplotypes Reference Assembly Alternate Haplotype Sequence Alignments
Assembly Assembly from Fragments
Assembly Tracks Assembly identifiers, clones, and markers
     STS Markers     STS Markers on Genetic (blue) and Radiation Hybrid (black) Maps
     Scaffolds     GRCh38 Defined Scaffold Identifiers
     GRC Contigs     Genome Reference Consortium Contigs
     FISH Clones     Clones Placed on Cytogenetic Map Using FISH
Centromeres Centromere Locations
Chromosome Band Chromosome Bands Localized by FISH Mapping Clones
Clone Ends Mapping of clone libraries end placements
Exome Probesets Exome Capture Probesets and Targeted Region
Gap Gap Locations
GC Percent GC Percent in 5-Base Windows
GRC Incident GRC Incident Database
Hg19 Diff Contigs New to GRCh38/(hg38), Not Carried Forward from GRCh37/(hg19)
INSDC Accession at INSDC - International Nucleotide Sequence Database Collaboration
LiftOver & ReMap UCSC LiftOver and NCBI ReMap: Genome alignments to convert annotations to hg19
LRG Regions Locus Reference Genomic (LRG) / RefSeqGene Sequences Mapped to Dec. 2013 (GRCh38/hg38) Assembly
Mappability Hoffman Lab Umap and Bismap Mappability
     Umap     Single-read and multi-read mappability by Umap
     Bismap     Single-read and multi-read mappability after bisulfite conversion
updated Problematic Regions Problematic/special genomic regions for sequencing or very variable regions
    new GIAB Problematic Regions     Difficult regions from GIAB via NCBI
     Highly Reproducible Regions     Highly Reproducible genomic regions for sequencing
     Problematic Regions     Problematic/special genomic regions for sequencing or very variable regions
Recomb Rate Recombination rate: Genetic maps from deCODE and 1000 Genomes
     Recomb. 1k Genomes     Recombination rate: 1000 Genomes, lifted from hg19 (PR Loh)
     Recomb. deCODE Dmn     Recombination rate: De-novo mutations found in deCODE samples
     Recomb. deCODE Evts     Recombination events in deCODE Genetic Map (zoom to < 10kbp to see the events)
     Recomb. deCODE Mat     Recombination rate: deCODE Genetics, maternal
     Recomb. deCODE Pat     Recombination rate: deCODE Genetics, paternal
     Recomb. deCODE Avg     Recombination rate: deCODE Genetics, average from paternal and maternal (mat for chrX)
RefSeq Acc RefSeq Accession
Restr Enzymes Restriction Enzymes from REBASE
Short Match Perfect Matches to Short Sequence ()
+   Genes and Gene Predictions    
-   Phenotype and Literature    
OMIM Online Mendelian Inheritance in Man
     OMIM Cyto Loci     OMIM Cytogenetic Loci Phenotypes - Gene Unknown
     OMIM Genes     OMIM Gene Phenotypes - Dark Green Can Be Disease-causing
     OMIM Alleles     OMIM Allelic Variant Phenotypes
AbSplice Scores Aberrant Splicing Prediction Scores
CADD 1.6 CADD 1.6 Score for all single-basepair mutations and selected insertions/deletions
     CADD 1.6 Ins     CADD 1.6 Score: Insertions - label is length of insertion
     CADD 1.6 Del     CADD 1.6 Score: Deletions - label is length of deletion
     CADD 1.6     CADD 1.6 Score for all possible single-basepair mutations (zoom in for scores)
new CADD 1.7 CADD 1.7 Score for all single-basepair mutations and selected insertions/deletions
    new CADD 1.7 Ins     CADD 1.7 Score: Insertions - label is length of insertion
    new CADD 1.7 Del     CADD 1.7 Score: Deletions - label is length of deletion
    new CADD 1.7     CADD 1.7 Score for all possible single-basepair mutations (zoom in for scores)
Cancer Gene Expr Gene Expression in 33 TCGA Cancer Tissues (GENCODE v23)
     Cancer Transc Expr     Transcript-level Expression in 33 TCGA Cancer Tissues (GENCODE v23)
     Cancer Gene Expr     Gene Expression in 33 TCGA Cancer Tissues (GENCODE v23)
new ClinGen ClinGen curation activities (Dosage Sensitivity and Gene-Disease Validity)
ClinGen CNVs Clinical Genome Resource (ClinGen) CNVs
ClinVar Variants ClinVar Variants
Constraint scores Human constraint scores
     UKB Depl. Rank Score     UK Biobank / deCODE Genetics Depletion Rank Score
     HMC     HMC - Homologous Missense Constraint Score on PFAM domains
     JARVIS     JARVIS: score to prioritize non-coding regions for disease relevance
Coriell CNVs Coriell Cell Line Copy Number Variants
COSMIC Catalogue of Somatic Mutations in Cancer V98
COSMIC Regions Catalogue of Somatic Mutations in Cancer V82
COVID Data Container of SARS-CoV-2 data
     COVID Rare Harmful Var     Rare variants underlying COVID-19 severity and susceptibility from the COVID Human Genetics Effort
     COVID GWAS v3     GWAS meta-analyses from the COVID-19 Host Genetics Initiative
     COVID GWAS v4     COVID risk variants from GWAS meta-analyses by the COVID-19 Host Genetics Initiative (Rel 4, Oct 2020)
DECIPHER CNVs DECIPHER CNVs
DECIPHER SNVs DECIPHER: Chromosomal Imbalance and Phenotype in Humans (SNVs)
Development Delay Copy Number Variation Morbidity Map of Developmental Delay
Dosage Sensitivity pHaplo and pTriplo dosage sensitivity map from Collins et al 2022
GenCC GenCC: The Gene Curation Coalition Annotations
Gene Interactions Protein Interactions from Curated Databases and Text-Mining
GeneReviews GeneReviews
GWAS Catalog NHGRI-EBI Catalog of Published Genome-Wide Association Studies
HGMD public Human Gene Mutation Database - Public Version Dec 2023
LOVD Variants LOVD: Leiden Open Variation Database Public Variants
Orphanet Orphadata: Aggregated Data From Orphanet
PanelApp Genomics England PanelApp Diagnostics
REVEL Scores REVEL Pathogenicity Score for single-base coding mutations (zoom for exact score)
SNPedia SNPedia
new SpliceAI SpliceAI: Splice Variant Prediction Score
     SpliceAI indels (masked)     SpliceAI Indels (masked)
     SpliceAI SNVs (masked)     SpliceAI SNVs (masked)
     SpliceAI indels     SpliceAI Indels (unmasked)
     SpliceAI SNVs     SpliceAI SNVs (unmasked)
TCGA Pan-Cancer TCGA Pan-Cancer mutations: 33 TCGA Cancer Projects Summary (Pan-Can 33)
UniProt Variants UniProt/SwissProt Amino Acid Substitutions
Variants in Papers Genetic Variants mentioned in scientific publications
     Mastermind Variants     Genomenon Mastermind Variants extracted from full text publications
     Avada Variants     Avada Variants extracted from full text publications
-   Human Pangenome - HPRC    
Multiple Alignment Multiple Alignment on 90 human genome assemblies
Pairwise Alignments Human Genomes, Chain/Net pairwise alignments, as mapped by the HPRC project
Rearrangements Rearrangements including indels, inversions, and duplications
Short Variants Short Variants
     HPRC Variants > 3bp     HPRC VCF variants filtered for items size > 3bp
     HPRC Variants <= 3bp     HPRC VCF variants filtered for items size <= 3bp
     HPRC All Variants     HPRC variants decomposed from hprc-v1.0-mc.grch38.vcfbub.a100k.wave.vcf.gz (Liao et al 2023), no size filtering
+   mRNA and EST    
-   Expression    
GTEx Gene V8 Gene Expression in 54 tissues from GTEx RNA-seq of 17382 samples, 948 donors (V8, Aug 2019)
GTEx RNA-Seq Coverage GTEx V8 RNA-Seq Read Coverage by Tissue
Affy Archive Affymetrix Archive
     Affy U95     Alignments of Affymetrix Consensus/Exemplars from HG-U95
     Affy U133     Alignments of Affymetrix Consensus/Exemplars from HG-U133
     Affy GNF1H     Alignments of Affymetrix Consensus/Exemplars from GNF1H
EPDnew Promoters Promoters from EPDnew
GNF Atlas 2 GNF Expression Atlas 2
GTEx Gene Gene Expression in 53 tissues from GTEx RNA-seq of 8555 samples (570 donors)
GTEx Transcript Transcript Expression in 53 tissues from GTEx RNA-seq of 8555 samples/570 donors
GWIPS-viz Riboseq Ribosome Profiling from GWIPS-viz
miRNA Tissue Atlas Tissue-Specific microRNA Expression from Two Individuals
Single Cell Expression Single cell RNA expression levels cell types from many organs
+   Single Cell RNA-seq    
+   Regulation    
+   Comparative Genomics    
+   Variation    
-   Repeats    
RepeatMasker Repeating Elements by RepeatMasker
Interrupted Rpts Fragments of Interrupted Repeats Joined by RepeatMasker ID
Microsatellite Microsatellites - Di-nucleotide and Tri-nucleotide Repeats
NuMTs Sequence Nuclear mitochondrial DNA segments
RepeatMasker Viz. Detailed Visualization of RepeatMasker Annotations
Segmental Dups Duplications of >1000 Bases of Non-RepeatMasked Sequence
Self Alignment Human Chained Self Alignments
Simple Repeats Simple Tandem Repeats by TRF
WM + SDust Genomic Intervals Masked by WindowMasker + SDust