##fileformat=VCFv4.2 ##contig= ##INFO= ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO 1 16255 . CCC CC . . EXP=intron|SAMD11||protein_coding;type=splice should not be called, can be normalized 1 16261 . CCA CA . . EXP=splice_region|SAMD11|ENST00000341065|protein_coding;type=splice_region but not splice_acceptor 1 16429 . TA T . . EXP=splice_region|SAMD11|ENST00000341065|protein_coding;type=splice_region but not splice_donor 1 16438 . GG G . . EXP=intron|SAMD11||protein_coding;type=splice should not be called 1 18365 . A AA . . EXP=intron|SAMD11||protein_coding;type=same as 16255 but an insertion 1 18371 . C CA . . EXP=splice_region|SAMD11|ENST00000341065|protein_coding;type=same as 16261 but an insertion 1 18500 . T TA . . EXP=splice_region|SAMD11|ENST00000341065|protein_coding;type=same as 16429 but an insertion 1 18506 . G GA . . EXP=intron|SAMD11||protein_coding;type=same as 16438 but an insertion 1 18816 . CAGGTCT CAGGTCT . . EXP=.;type=ref not a variant 1 18826 . G A . . EXP=missense|SAMD11|ENST00000341065|protein_coding|+|473R>473K|18826G>A 1 19026 . CAGGTGGCCAG CAGGTGAG . . EXP=inframe_deletion|SAMD11|ENST00000341065|protein_coding|+|508VA>508V|19026CAGGTGGCCAG>CAGGTGAG;type=indel inside exon not splice