I grepped out a position
12_111803962_G_A from the CADD database and it returned this
12_111803962_G_A 32 Intergenic DOWNSTREAM ENSG00000274697 ENST00000617899 12_111803962_G_A 32 CodingTranscript NON_SYNONYMOUS ENSG00000111275 ENST00000261733
I'm confused as to why there are multiple lines for this specific mutation.
If I look it up on NBCI, then it says the mutation is in the
ALDH2 gene, as expected. This maps to
ENSG00000111275 which is the second entry in my grep results above. However, the first entry maps to
ENSG00000274697 which is a different gene,
MIR6761, which I believe is next door to
This seems very confusing to me - the position 12_111803962 isn't in the
MIR6761 gene, so why does it map to there?