Answers.Body: <p>This dbsnp github repo seems to offer that information.</p>
  
  <p><a href="https://github.com/ncbi/dbsnp/tree/master/Build%20Announcements/151" rel="nofollow noreferrer">https://github.com/ncbi/dbsnp/tree/master/Build%20Announcements/151</a></p>
  
Answers.ContentLicense: CC BY-SA 4.0
Answers.CreationDate: 2020-03-07T01:51:45.223Z
Answers.LastActivityDate: 2020-03-07T01:51:45.223Z
Answers.UserDisplayName: KT8
Body: <p>I'd like to know how common certain mutation <em>types</em> are in public data sets like the 1000 Genomes, ExAC, and ESP6500. Specifically, I'd like to know the distribution of stop-gains, stop-losses, frameshift, and other mutation types. For example, what is the median number of stop-gains observed across individuals in the ExAC population? I'd like to have the full distribution, but median values would work.</p>
  
  <p>To be clear, I am <em>not</em> looking for allele frequencies.</p>
  
  <p>I didn't find this kind of summary data when I looked at the respective websites. Is there a good source for these summary data?</p>
  
Comments.ContentLicense: CC BY-SA 3.0
Comments.CreationDate: 2017-08-13T20:01:49.583Z
Comments.Text: Are you looking for statistics on the most severe variant at each genomic location? It is possible for many different transcript variants to map to the same location, which can influence the results that come out of this.
Comments.UserDisplayName: gringer
Comments.ContentLicense: CC BY-SA 3.0
Comments.CreationDate: 2017-08-14T08:04:28.590Z
Comments.Text: Does Figure 4A help? https://www.nature.com/nature/journal/v491/n7422/fig_tab/nature11632_F4.html
Comments.UserDisplayName: Chris_Rands
Comments.ContentLicense: CC BY-SA 3.0
Comments.CreationDate: 2017-08-14T09:47:48.927Z
Comments.Text: You might be able to calculate yourself the stats you want if you download the data.
Comments.UserDisplayName: llrs
Comments.ContentLicense: CC BY-SA 3.0
Comments.CreationDate: 2017-10-31T20:36:11.837Z
Comments.Text: For some types of variant annotations, you can pull all the SNPs from dbSNP as they do in this paper.
  
  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500177/
Comments.UserDisplayName: eric_kernfeld
Comments.ContentLicense: CC BY-SA 3.0
Comments.CreationDate: 2018-02-15T23:46:59.813Z
Comments.Text: An important clarifying question: Do you only care about this information in the context of humans?
Comments.UserDisplayName: conchoecia
Tags: <public-databases>
Title: Where can I find summary data for how common certain mutation *types* are?
ThreadText: # Where can I find summary data for how common certain mutation *types* are?
  
  (Asked by: username_0 on 2017-08-12)
  
  I'd like to know how common certain mutation *types* are in public data sets like the 1000 Genomes, ExAC, and ESP6500. Specifically, I'd like to know the distribution of stop-gains, stop-losses, frameshift, and other mutation types. For example, what is the median number of stop-gains observed across individuals in the ExAC population? I'd like to have the full distribution, but median values would work.
  
  To be clear, I am *not* looking for allele frequencies.
  
  I didn't find this kind of summary data when I looked at the respective websites. Is there a good source for these summary data?
  
  **Tags:** public-databases
  
  > **Comments:**
  > **username_1**: Are you looking for statistics on the most severe variant at each genomic location? It is possible for many different transcript variants to map to the same location, which can influence the results that come out of this.  
  > **username_2**: Does Figure 4A help? https://www.nature.com/nature/journal/v491/n7422/fig_tab/nature11632_F4.html  
  > **username_3**: You might be able to calculate yourself the stats you want if you download the data.  
  > **username_4**: For some types of variant annotations, you can pull all the SNPs from dbSNP as they do in this paper.  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500177/  
  > **username_5**: An important clarifying question: Do you only care about this information in the context of humans?  
  
  ---
  
  ## 1 answers
  
  ### Answer by username_6 on 2020-03-07. Score: 1
  
  This dbsnp github repo seems to offer that information.
  
  <https://github.com/ncbi/dbsnp/tree/master/Build%20Announcements/151>
  
  
  ---
  
  