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Table 1 Summary of annotation databases and tools used in TGex

From: Genome analysis and knowledge-driven variant interpretation with TGex

Data SourceCategoryReference
SnpEffFunctional Effect[30]
ExAC (including GnomAD)Frequency[33]
ESP6500Frequency[34]
1000 Genomes ProjectFrequency[35]
dbSNPFrequency[36]
CONVERGEFrequency[37]
ClinVarEvidence and clinical significance[38]
CiVICEvidence and clinical significance[39]
COSMICEvidence and clinical significance[40]
MitoMapEvidence and clinical significance[41]
MastermindEvidence and clinical significance[42]
OMIMEvidence and clinical significance[43]
PolyPhen-2Effect and Prediction[44]
SIFTEffect and Prediction[45]
MutationTasterEffect and Prediction[46]
LRT PredictionEffect and Prediction[47]
GERPEffect and Prediction[48]
dbscSNVEffect and Prediction[49]
RepeatMaskerGenomic repeats[50]