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Table 2 Mosaics detected in individuals with matched cardiovascular tissue and blood

From: EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

ID Gene Variant class Pipeline CHD tissue Blood WES VAF
Location WES AD WES VAF MiSeq VAF WES AD WES VAF MiSeq VAF
1-00543 CTCFL Bmis EM-mosaic AO 138,36 0.21 0.32 29,8 0.22 0.19
1-00984 ZNF16 syn EM-mosaic LV 262,1 0.00 0.01 100,7 0.07 0.07
1-01282 GABRA6 Dmis MosaicHunter RV 104,1 0.01 0.01 55,12 0.18 0.18
1-01684 CCNC Bmis Both AoValve, RV 36,7 0.16 0.17, 0.19 224,40 0.15 0.14
1-02672 TOR1A syn Both AtrSpt 159,10 0.06 0.10 29,6 0.17 0.19
1-03512 RFX3 LoF MosaicHunter RV 156,15 0.09 0.08 39,0 0.00 0.03
1-04652 PCDH10 syn Both AtrSpt 154,19 0.11 0.14 15,1 0.06 0.10
1-07004 ANK2 Bmis MosaicHunter SubAoMembr 226,13 0.05 0.04 30,0 0.00 0.00
1-07004 MYH14 Bmis Both SubAoMembr 124,22 0.15 0.27 33,0 0.00 0.00
1-07004 NRG3 Bmis EM-mosaic SubAoMembr 152,30 0.16 0.24 43,0 0.00 0.00
1-07004 NUDT21 Bmis Both SubAoMembr 137,22 0.14 0.14 74,0 0.00 0.02
1-07004 TET3 Dmis MosaicHunter SubAoMembr 131,1 0.01 0.03 81,16 0.16 0.27
1-07299 RRS1 syn Both RV, UNK 160,25 0.14 0.25 22,2 0.08 0.14
1-09869 PIK3C2G LoF MosaicHunter LV 126,9 0.07 0.10 31,0 0.00 0.00
1-11800 TMEM45A Bmis MosaicHunter RV 213,0 0.00 0.00 32,7 0.18 0.06
  1. Characteristics of mosaic variants predicted for individuals with blood and cardiovascular tissue WES data available. Among 15 mosaics, 5 were detected via analysis of blood WES, 8 were detected from cardiovascular tissue WES, and 2 were detected by both approaches. Six of 7 (86%) mosaics detected from analysis of blood were present in both DNA sources with MiSeq VAF ≥ 0.01. Two additional variants previously identified as de novo germline variants in blood WES were absent from CHD tissue WES. Minimum 1023 MiSeq reads used to determine VAF. Note: multiple cardiovascular tissue samples were available for participants 1-01684 and 1-07299. Abbreviations: AD allelic depth (reference, alternate), AO aorta, AtrSpt atrial septum, Bmis benign missense, Dmis deleterious missense, LOF loss of function variant, LV left ventricle, RV right ventricle, VAF variant allele fraction