Research Article

NovelSNPer: A Fast Tool for the Identification and Characterization of Novel SNPs and InDels

Table 6

(a) Ambiguous long indels. Multiple deletion notation on human chromosome 14. The nucleotides of the deletion are underlined in the reference sequence. In the new sequence a gap at the position of the deletion is shown.

Name Start End Alleles Reference sequence Alternative sequence

rs3841049 21560753 21560758 GAGGCT/- GTGGAGGCTGAGGCTGAGGCTGAGGCGG GTG GAGGCTGAGGCTGAGGCGG
rs71814523 21560759 21560764 GAGGCT/- GTGGAGGCTGAGGCTGAGGCTGAGGCGG GTGGAGGCT GAGGCTGAGGCGG
rs72383174 21560762 21560767 GCTGAG/- GTGGAGGCTGAGGCTGAGGCTGAGGCGG GTGGAGGCTGAG GCTGAGGCGG
rs7179484 21560764 21560759 GAGGCT/- GTGGAGGCTGAGGCTGAGGCTGAGGCGG GTGGAGGCTGAGGC TGAGGCGG

(b) Ambiguous long indels. Multiple deletion notation on human chromosome 19. The nucleotides of the deletion are underlined in the reference sequence. In the new sequence a gap at the position of the deletion is shown.

Name Start End Alleles Reference Sequence Alternative Sequence

rs3840928 30500119 30500121 TGA/- AGTGATGATGATGATGATGATGATGATGACG AG TGATGATGATGATGATGATGATGACG
rs71645759 30500127 30500129 ATG/- AGTGATGATGATGATGATGATGATGATGACG AGTGATGATG ATGATGATGATGATGACG
rs67383412 30500129 30500131 GAT/- AGTGATGATGATGATGATGATGATGATGACG AGTGATGATGAT GATGATGATGATGACG
rs10559374 30500130 30500132 ATG/- AGTGATGATGATGATGATGATGATGATGACG AGTGATGATGATG ATGATGATGATGACG
rs58360763 30500143 30500145 TGA/- AGTGATGATGATGATGATGATGATGATGACG AGTGATGATGATGATGATGATGATGA CG