GRCh38 · COSMIC v99

Overview

This tab shows an overview of the data that we have for this sample. You can read more about these data on our help pages.

Sample information
Sample name
PD7316a
COSMIC sample ID
COSS1541138
Tumour location
Breast (Carcinoma; Ductal carcinoma)
View this tissue/histology in the Cancer Browser
Screening method
Whole exome screening
Source
Sample type
NS
Origin of sample
NS
Sample source
Description of sample e.g. surgery-fixed, blood-bone marrow
NS
Curated features
Sample details
n/a
Tumour details
n/a
Individual details
Normal tissue tested
Unknown
Gender
Female
Age
Unknown
Additional information
Microsatellite instability (MSI)
Unknown
Other samples linked to the same individual
n/a
Supplier
n/a
External links
n/a
STR profile data
n/a
Sequence statistics
n/a

Circos

This tab displays a Circos diagram, a circular plot showing each chromosome of the genome as a segment, with each datatype shown as a separate track on the image. Move your mouse over the plot to highlight a region of the genome, then click to view the region in the Genome Browser. Show more

Circos gives a clear overview of all the structural variants, aberrant gene expression and copy number, and both coding and non-coding point mutations for the selected sample. This image is available for whole genome screens.

Circos is a software package developed by Martin Krzywinski (for more details see Krzywinski, M. et al).


This tab shows a circos diagram of the sample data [more details]

Data in each ring, starting from the outermost ring:

  • Deletions
  • Insertions
  • Nonsense mutations
  • Missense mutations
  • Silent mutations
  • Splice mutations
  • Complex mutations
  • Non coding Variants

Histogram with light pink and light blue background colour:

  • Hyper Methylation
  • Hypo Methylation

Histogram with red and green circles:

  • Over Expression
  • Under Expression

Pink and Blue histogram:

  • CNV Gain
  • CNV Loss

Green and Purple ribbons in the innermost circular space:

  • Intra-chromosomal Rearrangements
  • Inter-chromosomal Rearrangements
Circos image for 1541138

Genome browser

Note that you can also view the genome browser in a separate page.

The genome browser shows COSMIC annotations for this gene in a genomic context. Show more

Note: in some web browsers the genome browser may display a blank content panel when switching between browser tabs or when returning to the page using the browser's Back button. If this happens please click and drag the blank content panel to reload the genome browser.


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Variants

This tab shows the mutations observed in this sample. See more information in our help pages.

Gene Transcript Census Tier 1 AA Mutation CDS Mutation Somatic status Zygosity Validated Type Position

Mutation Filters

This tab shows the mutations observed in this sample [more details]
Gene CDS Mutation Somatic status Zygosity Validated Type
This tab shows the genes with no mutations in this sample (whole genome screen only) [more details]
Mutation ID (COST) Mutation Description Chromosome From Breakpoint From (GRCh38) Strand Chromosome To Breakpoint To (GRCh38) Strand Non Templated Inserted Seq
This tab shows the non-coding mutations in this sample (whole genome screen only) [more details]
Sample ID ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq FATHMM-MKL
This tab shows the CNVs (copy number variants) for this sample. Only variants (classified as gain or loss) are listed. [more details]

Table Information

Hide

The table currently shows only high value (numeric) copy number data. Copy number segments are excluded if the total copy number and minor allele values are unknown.

Click here to include all copy number data. For more detailed information about copy number data and gain/loss definitions click here.

Gene Expression Expr Level (Z-Score)

Over Expressed; Z-Score > 2.0

Under Expressed; Z-Score < -2.0

Normal; Z-Score within the range -2.0 to 2.0

CN Type Minor Allele Copy Number CN Segment Posn. Average Ploidy

1. N/A represents cases where the average ploidy value is not available( mostly ICGC samples). For some TCGA samples where the minor allele information is not available the average ploidy value could not be calculated.

2. For TCGA samples, the ASCAT algorithm was used to calculate the average ploidy.

3. For CGP samples, the PICNIC algorithm was used to calculate the average ploidy.

Study CNV
This tab shows the methylation data for this sample. Only variants classified as 'High' (hypermethylation) or 'Low' (hypomethylation) are listed. [more details]
Gene Name Probe ID Probe Posn. Type

High (Hypermethylated); Beta-Value > 0.8 and differs from normal average by > 0.5

Low (Hypomethylated); Beta-Value < 0.2 and differs from normal average by > 0.5

Level (Beta-Value) Normal Average

Mutation spectrum

This tab shows the mutation spectrum observed in this sample. Read more in our help pages.

Sequence context

Only available in the cell lines site.

Heatmap

Only available in the cell lines site.

Non-mutant genes

This tab shows the genes with no mutations in this sample. You can read more in our help pages.

Gene name Id Gene

References

This tab shows the publications associated with this sample. You can read more in our help pages.

Reference Title Author Year Journal Status COSMIC Pubmed