Table 5 List of the information and result of Sanger sequencing validation
From: VariFAST: a variant filter by automated scoring based on tagged-signatures
Chromosome | Start | Ref | Alt | v-score | Tag | Validation | |
|---|---|---|---|---|---|---|---|
Without high confidence | Chr14 | 60,574,539 | A | G | 1.03 | G | |
Chr19 | 20,808,374 | A | G | 0.92 | G | ||
Chr1 | 207,890,866 | T | C | 1.09 | C | ||
Chr11 | 237,087 | A | G | 1.74 | G | ||
Chr5 | 96,232,142 | T | A | 0.91 | A | ||
Chr17 | 28,511,978 | G | A | 0.89 | A | ||
Chr1 | 34,329,897 | T | C | 0.88 | C | ||
Chr3 | 64,640,207 | A | – | 2.38 | – | ||
Chr21 | 34,948,697 | A | – | 3.24 | – | ||
Chr14 | 19,807,081 | A | – | 1.76 | – | ||
Chr22 | 18,910,451 | A | – | 1.37 | – | ||
Chr13 | 60,385,060 | – | TTAC | 1.21 | TTAC | ||
Chr22 | 23,962,744 | – | TTC | 1.65 | TTC | ||
Chr18 | 61,326,628 | – | T | 3.02 | T | ||
Chr12 | 8,374,781 | – | ACG | 2.9 | – | ||
With high confidence | Chr10 | 25,273,311 | – | A | 11.7 | LVF, D, MV, RR, RI | A |
Chr2 | 157,425,502 | – | T | 11.8 | LVF, D, MV, RR, RI | T | |
Chr8 | 101,725,036 | – | AA | 10.2 | LVF, MV, RR, RI | AA | |
Chr12 | 122,762,763 | – | AA | 10.0 | LVF, D, MV, RR, RI | AA | |
Chr6 | 82,930,437 | – | A | 7.0 | LVF, D, MV, RR, RI | A | |
Chr22 | 44,074,076 | – | A | 6.6 | D, MV, RR, RI | A | |
Chr17 | 7,012,073 | G | T | 6.5 | HDR | T | |
Chr15 | 81,624,768 | C | T | 5.3 | LVF, LC | T | |
Chr4 | 6,114,420 | G | T | 7.0 | HDR | T | |
Chr3 | 151,545,323 | T | G | 8.1 | HDR, ND, D | G | |
Chr1 | 89,652,094 | G | A | 7.0 | LVF, HDR, H | A | |
Chr11 | 55,595,114 | G | T | 6.7 | HDR | T |