We have several candidate profiles of mutations because it is clear the kind of mutation we are searching but sometimes we do not have a specific clues.

1. Recessive heritage
2. Dominant heritage (mother and the two daughters are affected).
3. For this region, only chromosome: 7
4. Evaluate the same region, including start and end: 7:1000-200000
5. For these genes: PMS,ATRN
6. Are there variants for these SNPs: rs104895545,rs79716074?
7. Description of variants. How many SNVs, INDELs, MNVs, SVs, CNVs?
8. Variants with MAF (Minimum Allelic Frequency) < 0.001 for all populations in 1000 Genomes phase 1
9. Variants with MAF (Minimum Allelic Frequency) < 0.001 for all populations in 1000 Genomes phase 3
10. Variants with MAF (Minimum Allelic Frequency) < 0.001 for European American population in ESP 6500
11. Variants with the three preview MAFs at the same time

1. We have several clues about our candidate variants. In addition of knowing the pattern of recessive heritage, we search variants with MAF < 0.001 (for all populations in 1000 Genomes phase 1) because it is a rare disease.
   • How many variants do you have including both characteristics?
   • Include at the preview filter the consequence type “missense_variant”. How many variants do you have now?
   • Finally, include the Sift < 0.05 and Polyphen > 0.95, thus it is likely pathogenic variant. How many variants do you have now?