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SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human

Anthony Shea^1,2, Shixiang Sun³, Justin Kennedy^1,4

¹Masonic Institute on the Biology of Aging and Metabolism, University of Minnesota, Minneapolis, MN 55455, United States.

Nucleic Acids Research

|November 26, 2025

Summary

SomaMutDB 2.0 catalogs over 8.9 million somatic mutations across 10,852 human samples. This expanded database aids in understanding the functional impact of somatic mosaicism on aging and disease.

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Area of Science:

Genomics
Bioinformatics
Human Aging Research

Background:

Somatic mutations accumulate with age and influence health and disease.
Characterizing these mutations is challenging due to their diversity and heterogeneity.
A centralized platform for somatic mutation data and functional interpretation is needed.

Purpose of the Study:

To present SomaMutDB 2.0, an expanded database for somatic mutations.
To provide a comprehensive functional annotation framework for assessing mutational impact.
To enable systematic evaluation of somatic mosaicism in human health and aging.

Main Methods:

Cataloged 8.9 million mutations (SNVs and INDELs) from 10,852 samples across 47 studies.
Developed a functional annotation framework using 22 predictive models.
Integrated data from normal, non-diseased tissues for contextual interpretation.

Main Results:

SomaMutDB 2.0 contains 8.9 million mutations from 607 subjects.
The database offers systematic functional impact assessment using diverse predictive models.
Results can be contextualized against normal tissue mutations for enhanced interpretation.

Conclusions:

SomaMutDB 2.0 is a comprehensive resource for somatic mosaicism.
The platform facilitates functional interpretation of somatic mutations.
It advances the study of somatic mosaicism's role in human health and aging.