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All p130Cas variants were verified by sequencing.
All variants were verified by bidirectional sequencing.
All candidate variants were verified by Sanger sequencing.
These variants were verified by Sanger sequencing in all family members.
All foscrb variants were verified by sequencing before injection into Drosophila melanogaster.
The sequences of BsDHFR variants were verified by automated DNA sequencing (Molecular Biology Unit, Cardiff University).
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Expression of the human Vps35 variants was verified by immunoblotting (Fig. 1B).
All sequence variants are verified for genomic position within a given reference gene and named following standard Human Genome Variation Society HGVSS) nomenclature [ 28].
Somatic status of the observed coding sequence variants was verified by sequencing the corresponding normal tissue DNA each time the frequency of the variant was <5%.
For ELF3 gene that has not been studied, the presence of alternatively spliced RNA variants was verified by direct sequencing of RT-PCR products.
The activation status of the variants was verified with a phospho-specific antibody against Thr497 in the activation loop of PKCα (Additional file 3: Figure S3A).
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