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 this region: 1:1000-50000
4. For this gene: BRD9
5. For these genes at the same time: BRD9,CDK11A,RET
6. Description of variants. How many SNVs and INDELs can you search?
7. Variants with MAF (Minimum Allelic Frequency) < 0.1 for all populations in 1000 Genomes phase 3
8. Variants with MAF (Minimum Allelic Frequency) < 0.01 for all populations in 1000 Genomes phase 3
9. Variants with MAF (Minimum Allelic Frequency) < 0.001 for all populations in 1000 Genomes phase 3

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 “synonymous variant”
   • How many variants do you have including both characteristics?
   • Download these final results in a csv file
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 “synonymous variant”
   • How many variants do you have including both characteristics?
   • Download these final results in a csv file

1. Candidate variants: 1312
2. Candidate variants: 10722
3. Candidate variants: 1
4. Candidate variants: 9
5. Candidate variants: 34
6. 39980 SNVs and INDELs
7. Candidate variants in 1000 Genomes, phase 3:17333
8. Candidate variants in 1000 Genomes, phase 3:13190
9. Candidate variants in 1000 Genomes, phase 3:12270

1. 1312-449-46
2. 10722-5171-655