I have mutations with an absolute Position, Chromosome and context e.g.:
Chr Pos Ref Alt Context
chr21 36252877 C T Coding,Intergenic
So i found out with my python script, that it's in this example the gene DOPEY2 and now I am searching for a way to get all possible protein sequences that are affected by this mutation.
Any help is appreciated.
PS: I downloaded the hg19 genome and gathered the DNA Sequences of the genes, but i need the splicing informations for further progress.
Update: I still don't know the exact solution, but for anyone with a similar problem, have a look at ANNOVAR Documentation,Coding_Change