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Fix insertion with n consequence type #672

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@awab-ahmed awab-ahmed commented Sep 25, 2023

4.12.5 introduced a bug where insertion variants > 50bp with N in the reference are classified as MNVs and therefore their consequeneTypes are miscalculated.

E.g of variant: 11:68410141:N:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGN

In this PR the conditions in VariantAnnotationUtils.getVariantType are changed so that such variants are classified as insertions so that the correct ConsequenceTypeCalculator gets assigned.

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