Table 3.

dnSNVs observed at the breakpoint junctions of dnCNVs; related to Data S1 and Table S3.

Mutation type	Reference	Mutation (lower case)	Rearrangement context
Di-nucleotide substitution	5′-TTTTGGGGGATTG-3′	5′-TTTTGGGGccTTG-3′	Complex triplication
SNV	5′-ATTATTATTTATAATAATATAT-3′	5′-ATTTATTATTcATAATAATATAT-3′	Complex double duplication
SNV	5′-GTGGTTGC-3′	5′-GTGGTTtC -3′	Replication slippage
Single nucleotide insertion	5′-GTGCAAT-3′	5′-GTGCaAAT-3′	Replication slippage
Single nucleotide deletion	5′-AAAAACTGTG-3′	5′-AAAA-CTGTG-3′	Replication slippage