Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts

Table 3 Mutations extracted from PubMed/MEDLINE, PMC full texts, and PMC from PDFs including supplementary files such as Excel tables. Variants are grouped by variant type, counting each evidence for each variant resulting in the grand total. We also show the number of variants that we were able to map to a dbSNP ID, as well as the number of unique variants, disregarding occurrences across multiple publications

Type	PubMed	PMC	PDF and	Total
			Supplement
Substitution	617,693	853,487	5,804,542
dbSNP	102,040	222,310	4,433,018
Insertion	3,072	2,252	17,640
Duplication	875	1,263	5,522
Repeat	42	76	339
Deletion	19,987	27,192	69,326
Insdel	202	290	2,061
Frameshift	2,185	3,065	28,405
Structural	15,347	6,143	5,642,341
Total non-unique	761,449	1,116,093	15,802,854
– with dbSNP ID	261,881	381,500	4,743,471
Total unique	203,055	201,597	4,221,952
Total unique mapped to allele ^a	101,652	122,393	727,602	890,665

^aIn case amino acid changes were given in the literature, we counted only one allele that would lead to that change

ISSN: 1471-2105