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 (father is affected).
3. For these regions: 1:3000-10000000,20:1000-200000000
4. For these genes: CDK11A,CDK11B
5. Are there variants for this SNPId: rs17279437?
6. Description of variants. How many SNVs, INDELs, MNVs, SVs, CNVs?
7. Variants with MAF (Minimum Allelic Frequency) < 0.001 for EUR populations in 1000 Genomes phase 3
8. Variants with MAF (Minimum Allelic Frequency) < 0.001 for EAS populations in 1000 Genomes phase 3
9. Variants with two 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 < 0.1 (for all populations in 1000 Genomes phase 3) because it is a rare disease. Consequence type must be “non coding exon variant” (modifier).
   • How many variants do you have including both characteristics?
2. We have several clues about our candidate variants. In addition of knowing the pattern of dominant heritage (father is affected), we search variants with MAF < 0.1 (for all populations in 1000 Genomes phase 3) because it is a rare disease. Consequence type must be “non coding exon variant” (modifier).
   • How many variants do you have including both characteristics?