The mission of SomaMutDB is to provide a resource of somatic mutations in normal human tissues to help improving our understanding of the impact of somatic postzygotic mutagenesis on human healthy aging and disease. The current version of SomaMutDB contains a comprehensive catalogue of somatic SNVs (single nucleotide variants) and small INDELs (insertions and deletions) from twenty normal human tissues and cell types. Currently, the database has a total number of 9.01 million somatic variants. For browse and search, we incorporate the annotations of gene and regulatory elements from EMBL and GENCODE, and median expression level for each tissue in GTEx. SomaMutDB also provides six useful tools for mutational signature analysis.
Cite SomaMutDB:
Shixiang Sun, Yujue Wang, Alexander Y Maslov, Xiao Dong, Jan Vijg, SomaMutDB: a database of somatic mutations in normal human tissues, Nucleic Acids Research, 2022, 50(D1): D1100-D1108.
Note (03262025):
The search function is temporarily offline due to MySQL node maintenance. If you need annotation results from the search page, please contact somasc2024@gmail.com to request the full results as text files.
| Tissue name | SNV number | INDEL number | Paper name | Raw data link |
|---|---|---|---|---|
| Adipocytes | 29903 | 1615 | Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type | Please contact the author(maria.eriksson.2@ki.se) |
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Adrenal gland | 9278 | 199 | The mutational landscape of human somatic and germline cells | EGAD00001006641 |
| Bladder | 200139 | 5867 | Macroscopic somatic clonal expansion in morphologically normal human urothelium | HRA000137 |
| Extensive heterogeneity in somatic mutation and selection in the human bladder | EGAD00001006113 | |||
| EGAD00001006114 | ||||
| EGAD00001006115 | ||||
| EGAD00001006116 | ||||
| EGAD00001006117 | ||||
| Somatic mutation landscapes at single-molecule resolution | EGAD00001006459 | |||
| EGAD00001007028 | ||||
| EGAD00001006595 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Blood | 1452867 | 44248 | Population dynamics of normal human blood inferred from somatic mutations | EGAD00001004086 |
| Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands | PRJNA533595 | |||
| Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis | EGAS00001003982 | |||
| EGAS00001002886 | ||||
| Somatic mutation landscapes at single-molecule resolution | EGAD00001006459 | |||
| EGAD00001007028 | ||||
| EGAD00001006595 | ||||
| Single-cell whole-genome sequencing reveals the functional landscape of somatic mutations in B lymphocytes across the human lifespan | phs001808.v1.p1 | |||
| Clonal dynamics of haematopoiesis across the human lifespan | EGAD00001007851 | |||
| Antiviral treatment causes a unique mutational signature in cancers of transplantation recipients | EGAS00001004926 | |||
| Diverse mutational landscapes in human lymphocytes | EGAD00001008107 | |||
| Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox | EGAS00001007288 | |||
| Scrutiny of genome-wide somatic mutation profiles in centenarians identifies the key genomic regions for human longevity | HRA002853 | |||
| Bone marrow | 1529792 | 45833 | Population dynamics of normal human blood inferred from somatic mutations | EGAD00001004086 |
| Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis | EGAS00001003982 | |||
| EGAS00001002886 | ||||
| Somatic mutation landscapes at single-molecule resolution | EGAD00001006459 | |||
| EGAD00001007028 | ||||
| EGAD00001006595 | ||||
| Clonal dynamics of haematopoiesis across the human lifespan | EGAD00001007851 | |||
| Antiviral treatment causes a unique mutational signature in cancers of transplantation recipients | EGAS00001004926 | |||
| Diverse mutational landscapes in human lymphocytes | EGAD00001008107 | |||
| Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox | EGAS00001007288 | |||
| Brain | 110822 | 1886 | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis | 2330 |
| Aging and neurodegeneration are associated with increased mutations in single human neurons | phs001485.v2.p1 | |||
| Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands | PRJNA533595 | |||
| Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability | 2424 | |||
| Breast | 85808 | 5298 | Single-cell analysis of somatic mutation burden in mammary epithelial cells of pathogenic BRCA1/2 mutation carriers | phs002411.v1.p1 |
| Evolutionary histories of breast cancer and related clones | EGAS00001006282 | |||
| Colon | 1474413 | 62749 | Tissue-specific mutation accumulation in human adult stem cells during life | EGAS00001001682 |
| EGAS00001000881 | ||||
| Somatic inflammatory gene mutations in human ulcerative colitis epithelium | JGAD000284 | |||
| Somatic evolution in non-neoplastic IBD-affected colon | EGAD00001006061 | |||
| EGAD00001004192 | ||||
| EGAD00001004193 | ||||
| Somatic mutation landscapes at single-molecule resolution | EGAD00001006459 | |||
| EGAD00001007028 | ||||
| EGAD00001006595 | ||||
| A body map of somatic mutagenesis in morphologically normal human tissues | EGAD00001007859 | |||
| HRA000356 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Common anti-cancer therapies induce somatic mutations in stem cells of healthy tissue | EGAS00001006042 | |||
| Embryonic stem cell | 7768 | 665 | Low rates of mutation in clinical grade human pluripotent stem cells under different culture conditions | EGAS00001001561 |
| Endometrium | NA | 23584 | The mutational landscape of normal human endometrial epithelium | EGAS00001002471 |
| Esophagus | 30070 | 597 | A body map of somatic mutagenesis in morphologically normal human tissues | EGAD00001007859 |
| HRA000356 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Fibroblast | 10499 | 1565 | UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin | phs001182.v2.p1 |
| Maintenance of genome sequence integrity in long- and short-lived rodent species | phs002610.v1.p1 | |||
| Accurate identification of single nucleotide variants in whole genome amplified single cells | SRP067062 | |||
| Single molecule, quantitative detection of low-abundance somatic mutations by high- throughput sequencing | PRJNA758911 | |||
| Heart | 2406 | NA | Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity | phs002284.v1.p1 |
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| iPSC | 1724105 | 49035 | Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells | EGAS00001000492 |
| iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations | phs001277.v1.p1 | |||
| Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells | ERP006946 | |||
| ERP017015 | ||||
| EGAS00001000592 | ||||
| EGAD00001007029 | ||||
| Kidney | 43896 | 4427 | Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type | Please contact the author(maria.eriksson.2@ki.se) |
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Liver | 367882 | 16833 | Tissue-specific mutation accumulation in human adult stem cells during life | EGAS00001001682 |
| Somatic mutations and clonal dynamics in healthy and cirrhotic human liver | EGAD00001004578 | |||
| A body map of somatic mutagenesis in morphologically normal human tissues | EGAD00001007859 | |||
| HRA000356 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Precancerous liver diseases do not cause increased mutagenesis in liver stem cells | EGAS00001002983 | |||
| EGAS00001005384 | ||||
| Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver | phs001956.v1.p1 | |||
| Single molecule, quantitative detection of low-abundance somatic mutations by high- throughput sequencing | PRJNA758911 | |||
| Common anti-cancer therapies induce somatic mutations in stem cells of healthy tissue | EGAS00001006042 | |||
| Lung | 367132 | 14597 | Tobacco smoking and somatic mutations in human bronchial epithelium | EGAD00001005193 |
| A body map of somatic mutagenesis in morphologically normal human tissues | EGAD00001007859 | |||
| HRA000356 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking | phs002758.v1.p1 | |||
| Pancreas | 12986 | 191 | A body map of somatic mutagenesis in morphologically normal human tissues | EGAD00001007859 |
| HRA000356 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Placenta | 22017 | 2464 | Inherent mosaicism and extensive mutation of human placentas | EGAD00001006337 |
| Prostate | 21052 | 538 | Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue | EGAD00001000689 |
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Rectum | 7594 | 11 | A body map of somatic mutagenesis in morphologically normal human tissues | EGAD00001007859 |
| HRA000356 | ||||
| Skeletal muscle | 25650 | 1807 | Somatic mutagenesis in satellite cells associates with human skeletal muscle aging | Please contact the author(maria.eriksson.2@ki.se) |
| Skin | 111789 | 1968 | UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin | phs001182.v2.p1 |
| The genomic landscapes of individual melanocytes from human skin | phs001979.v1.p1 | |||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Effects of psoriasis and psoralen exposure on the somatic mutation landscape of the skin | EGAD00001011265 | |||
| Small Intestine | 850341 | 2285 | Tissue-specific mutation accumulation in human adult stem cells during life | EGAS00001001682 |
| Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis | EGAS00001003982 | |||
| EGAS00001002886 | ||||
| A body map of somatic mutagenesis in morphologically normal human tissues | EGAD00001007859 | |||
| HRA000356 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| APOBEC mutagenesis is a common process in normal human small intestine | EGAD00001008764 | |||
| Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox | EGAS00001007288 | |||
| Spleen | 122746 | 4371 | Diverse mutational landscapes in human lymphocytes | EGAD00001008107 |
| Stomach | 23813 | 407 | A body map of somatic mutagenesis in morphologically normal human tissues | EGAD00001007859 |
| HRA000356 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Testicle | 25566 | 831 | Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands | PRJNA533595 |
| Somatic mutation landscapes at single-molecule resolution | EGAD00001006459 | |||
| EGAD00001007028 | ||||
| EGAD00001006595 | ||||
| The mutational landscape of human somatic and germline cells | EGAD00001006641 | |||
| Thyroid | 4308 | 92 | The mutational landscape of human somatic and germline cells | EGAD00001006641 |
| Tonsil | 15804 | 683 | Diverse mutational landscapes in human lymphocytes | EGAD00001008107 |
| Ureter | 24875 | 90 | Macroscopic somatic clonal expansion in morphologically normal human urothelium | HRA000137 |
| The mutational landscape of human somatic and germline cells | EGAD00001006641 |
The above result are calculated based on hg19/GRCh37.