Table 4 Hi-Q vs. Standard enzyme variant call comparison
Sample | CHR | Location | IDS | REF | VAR | Standard | QUAL | HiQ | QUAL | Context |
|---|---|---|---|---|---|---|---|---|---|---|
Rare coding indels | ||||||||||
DL0099844 | chr13 | 32906535 | T | Artifact | 10.3 | No call | T5 | |||
DL0099806 | chr13 | 32906547 | T | Artifact | 93.64 | No call | T5 | |||
DL0099818 | chr13 | 32906547 | T | No call | Artifact | 13 | ||||
DL0099791 | chr13 | 32906565 | A | Artifact | 622.5 | No call | A6 | |||
DL0099802 | chr13 | 32906565 | A | Artifact | 737.8 | No call | ||||
DL0099818 | chr13 | 32906565 | A | Artifact | 160.3 | No call | ||||
DL0099828 | chr13 | 32906565 | A | Artifact | 793.8 | No call | ||||
DL0099833 | chr13 | 32906565 | A | Artifact | 383.3 | No call | ||||
DL0099840 | chr13 | 32906565 | A | Artefact | 744.6 | No call | ||||
DL0099874 | chr13 | 32906565 | A | Artefact | 458.6 | No call | ||||
DL0099818 | chr13 | 32906576 | A | Artefact | 158.9 | No call | A5 | |||
DL0099879 | chr13 | 32906576 | A | Artefact | 161.1 | Artifact | 293.2 | |||
DL0099824 | chr13 | 32906576 | A | No call | Artifact | 373.7 | ||||
DL0099842 | chr13 | 32906576 | A | No call | Artifact | 212.6 | ||||
DL0099846 | chr13 | 32906576 | A | No call | Artifact | 325.6 | ||||
DL0099851 | chr13 | 32906576 | A | No call | Artifact | 288.0 | ||||
DL0099832 | chr13 | 32906602 | A | Artifact | 101.0 | No call | A7 | |||
DL0099854 | chr13 | 32906602 | A | Artifact | 80.27 | No call | ||||
DL0099812 | chr13 | 32906609 | AAT | Artifact | 11.8 | No call | A7T4 | |||
DL0099867 | chr13 | 32906609 | AT | Artifact | 19.39 | No call | ||||
DL0099873 | chr13 | 32906609 | AAT | Artifact | 20.66 | No call | ||||
DL0099879 | chr13 | 32906609 | AT | Artifact | 45.22 | No call | ||||
DL0099806 | chr13 | 32906647 | A | Artifact | 32.02 | No call | A5 | |||
DL0099841 | chr13 | 32906647 | A | Artifact | 33.75 | No call | ||||
DL0099808 | chr13 | 32913668 | A | Artifact | 11.78 | No call | A4 | |||
DL0099791 | chr13 | 32914270 | T | Valid | 627 | Valid | 583.7 | agTg | ||
DL0099847 | chr13 | 32929161 | A | Artifact | 13.91 | No call | A6 | |||
DL0099795 | chr13 | 32929287 | A | Artifact | 22.35 | No call | A4 | |||
DL0099802 | chr13 | 32929287 | A | Artifact | 12.56 | No call | ||||
DL0099804 | chr13 | 32929287 | A | Artifact | 14.27 | No call | ||||
DL0099816 | chr13 | 32929287 | A | Artifact | 16.41 | No call | ||||
DL0099821 | chr13 | 32929287 | A | Artifact | 10.65 | No call | ||||
DL0099831 | chr13 | 32929287 | A | Artifact | 10.4 | No call | ||||
DL0099839 | chr13 | 32929287 | A | Artifact | 15.97 | No call | ||||
DL0099844 | chr13 | 32929287 | A | Artifact | 16.08 | No call | ||||
DL0099880 | chr13 | 32929287 | A | Artifact | 20.42 | No call | ||||
DL0099874 | chr17 | 41215952 | rs80357710 | CA | Valid | 893 | Valid | 794.1 | CA4 | |
DL0099847 | chr17 | 41256244 | T | Artifact | 13.14 | No call | T4 | |||
DL0099801 | chr17 | 41276044 | rs80359877 | CAGATGGGACA | Valid | 856 | Valid | 611.1 | ||
DL0099855 | chr17 | 41276044 | CT | Valid | 483 | Valid | 608.1 | |||
Rare SNVs | ||||||||||
DL0099801 | chr13 | 32906446 | rs28897705 | T | G | Valid | 348 | Valid | 469.2 | |
DL0099870 | chr13 | 32906571 | rs55939572 | A | C | No call | Artifact | 41.04 | ||
DL0099797 | chr13 | 32912414 | rs80358638 | G | T | Valid | 316 | Valid | 343.4 | |
DL0099879 | chr13 | 32912553 | cosmic:69844,esp,rs80358656 | C | T | Valid | 343 | Valid | 405.2 | |
DL0099858 | chr13 | 32972695 | rs80358387 | A | G | Valid | 520.1 | Valid | 608.6 | |
DL0099877 | chr17 | 41197756 | rs80357323 | A | C | Valid | 522.5 | Valid | 675.3 | |
DL0099816 | chr17 | 41201181 | rs80357069 | C | T | Valid | 512 | Valid | 799.2 | |
DL0099816 | chr17 | 41201185 | rs80357065 | A | T | Valid | 519 | Valid | 805.8 | |
DL0099879 | chr17 | 41222976 | rs80356968 | A | G | Valid | 560.3 | Valid | 495.7 | |
DL0099858 | chr17 | 41243948 | rs56214134 | C | A | Valid | 758.5 | Valid | 698.1 | |
DL0099836 | chr17 | 41245071 | rs28897683 | G | T | Valid | 325.6 | Valid | 248.3 | |
DL0099801 | chr17 | 41246037 | rs56272539 | C | T | Valid | 835.4 | Valid | 998.0 | |
DL0099838 | chr17 | 41267755 | T | A | Valid | 731.1 | Valid | 910.6 | ||