no edit summary
5'UTR=A26C2[-] means the SNP is in the 5'UTR region of gene A26C2 with a minus strand.
INTRONIC=POTEG[-] means the SNP is in the intronic region of gene POTEG with a minus strand.
GAB4: Ala15826157Ala[-] means the SNP is synonymous coding at position 15826157 in gene GAB4 with a minus strand and it keeps amino-acid Ala unchanged. NON_SYNONYMOUS_CODING= GAB4: Leu15830952Pro[-] means the SNP is non_synonymous coding at position 15830925 in gene GAB4 with a minus strand and it changes amino-acid Leu to Pro.
SPLICE_SITE=NCAPH2[+] means the SNP is in the SPLICE_SITE (5 bp within exon start or end positions in the coding region) of gene MCAPH2 with a plus strand.
STOP_GAINED=MAPK12:Trp49035685stop[-] means the SNP is at position 49035685 in gene MAPK12 with a minus strand and it changes amino-acid Trp to a stop codon.