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 is affected).
3. For these region, only chromosome: 3,19
4. Evaluate the same regions, including start and end at the first region: 3:1000-200000,19
5. For this gene: SDC3
6. Description of variants. How many SNVs, INDELs, MNVs, SVs, CNVs?
7. Variants with MAF (Minimum Allelic Frequency) < 0.05 for AFR populations in 1000 Genomes phase 1
8. Variants with MAF (Minimum Allelic Frequency) < 0.05 for AFR populations in 1000 Genomes phase 3
9. Variants with MAF (Minimum Allelic Frequency) < 0.05 for African American population in ESP 6500
10. For sift<0.05 and polyphen >0.95, because it is likely pathogenic

1. Can you apply filters to search “Insuline Resistance” phenotype in recesive heritage? (You can see a solution at the end, it could be more than one)
   • Download these final results in a csv file.

1. Candidate variants: 964
2. Candidate variants: 10852
3. Candidate variants: 5015
4. Candidate variants: 975
5. Candidate variants: 2
6. 36307 SNVs, 3666 INDELs, 23 MNVs, 3 SVs, 0 CNVs
7. Candidate variants in 1000 Genomes, phase 1: 16102
8. Candidate variants in 1000 Genomes, phase 3: 17468
9. Candidate variants in European American population: 24460
10. Candidate variants: 313

1. sift<0.05, polyphen>0.95, AFR phase3 < 0.1