| sample caller variant_ID is_pass motif_len ref_copynum gt_repcn_max gt_repcn_min expansion_over_ref repci_width_max spanning_reads flanking_reads inrepeat_reads locus_depth gt_hom ref_tract_bp spanning_frac allele_vs_readlen motif_is_homopolymer gc_flank entropy_flank in_segdup in_difficult flank_lowmap CS_raw CS tier |
| HG00097 expansionhunter chr1:165954:165962 1 4.0 2.0 2.0 1.0 0.0 0.0 25.0 2.0 0.0 34.5405 0.0 8.0 0.925925925925926 0.0533333333333333 0 0.297029702970297 1.8767240669197327 1 1 1 0.7378 0.8546 HIGH |
| HG00097 expansionhunter chr1:370632:370648 1 4.0 4.0 4.0 3.0 0.0 1.0 30.0 14.0 0.0 40.3784 0.0 16.0 0.6818181818181818 0.1066666666666666 0 0.3762376237623762 1.7475795513453003 1 1 1 0.3337 0.3967 WARNING |
| HG00097 expansionhunter chr1:832736:832781 1 5.0 9.0 10.0 10.0 1.0 0.0 44.0 104.0 0.0 42.8919 1.0 45.0 0.2972972972972973 0.3333333333333333 0 0.3663366336633663 1.7496871374624745 1 1 0 0.9082 0.9876 HIGH |
| HG00097 expansionhunter chr1:932613:932621 1 4.0 2.0 1.0 1.0 -1.0 0.0 88.0 4.0 0.0 49.3784 1.0 8.0 0.9565217391304348 0.0266666666666666 0 0.6138613861386139 1.93240710844821 0 1 0 0.4569 0.5696 MODERATE |
| HG00097 expansionhunter chr1:1010481:1010497 1 4.0 4.0 3.0 3.0 -1.0 0.0 62.0 20.0 0.0 35.1081 1.0 16.0 0.7560975609756098 0.08 0 0.1386138613861386 1.5081706750248076 0 1 0 0.1697 0.1673 LOW |
| HG00097 expansionhunter chr1:1052514:1052528 1 2.0 7.0 8.0 7.0 1.0 0.0 40.0 4.0 0.0 46.3784 0.0 14.0 0.9090909090909092 0.1066666666666666 0 0.4653465346534653 1.8443047122008367 0 1 0 0.1755 0.1752 LOW |
| HG00097 expansionhunter chr1:1063661:1063681 1 2.0 10.0 10.0 9.0 0.0 0.0 39.0 26.0 0.0 51.0811 0.0 20.0 0.6 0.1333333333333333 0 0.5643564356435643 1.7595456304802637 0 1 0 0.0987 0.0615 LOW |
| HG00097 expansionhunter chr1:1265603:1265649 1 2.0 23.0 24.0 23.0 1.0 0.0 19.0 44.0 0.0 38.3514 0.0 46.0 0.3015873015873015 0.32 0 0.4851485148514851 1.4319496839589465 0 1 0 0.1248 0.0944 LOW |
| HG00097 expansionhunter chr1:1431026:1431058 1 8.0 4.0 5.0 4.0 1.0 0.0 25.0 65.0 0.0 53.2703 0.0 32.0 0.2777777777777778 0.2666666666666666 0 0.7128712871287128 1.807491527273404 0 1 0 0.6394 0.7505 HIGH |
| HG00097 expansionhunter chr1:1585949:1585976 1 3.0 9.0 16.0 15.0 7.0 0.0 23.0 57.0 0.0 44.4324 0.0 27.0 0.2875 0.32 0 0.3366336633663366 1.870380810485376 0 1 0 0.8984 0.9819 HIGH |
| HG00097 expansionhunter chr1:1653825:1653863 1 2.0 19.0 21.0 21.0 2.0 1.0 22.0 28.0 0.0 34.8649 1.0 38.0 0.44 0.28 0 0.495049504950495 1.861174864442864 1 1 0 0.6052 0.7199 HIGH |
| HG00097 expansionhunter chr1:1752908:1752935 1 3.0 9.0 10.0 9.0 1.0 0.0 39.0 31.0 0.0 49.4595 0.0 27.0 0.5571428571428572 0.2 0 0.6435643564356436 1.89700577967548 0 1 0 0.7839 0.8853 HIGH |
| HG00097 expansionhunter chr1:1762759:1762791 1 4.0 8.0 9.0 8.0 1.0 0.0 38.0 32.0 0.0 40.5405 0.0 32.0 0.5428571428571428 0.24 0 0.3861386138613861 1.9107593839500945 0 1 0 0.9107 0.988 HIGH |
| HG00097 expansionhunter chr1:1769969:1770011 1 6.0 7.0 5.0 5.0 -2.0 0.0 36.0 38.0 0.0 44.7568 1.0 42.0 0.4864864864864865 0.2 0 0.3267326732673267 1.680234216638318 0 1 0 0.8992 0.9829 HIGH |
| HG00097 expansionhunter chr1:1776461:1776473 1 4.0 3.0 2.0 2.0 -1.0 0.0 74.0 12.0 0.0 38.7568 1.0 12.0 0.8604651162790697 0.0533333333333333 0 0.4554455445544554 1.8897699414887887 0 0 0 0.8386 0.9299 HIGH |
| HG00097 expansionhunter chr1:1812407:1812429 1 2.0 11.0 12.0 12.0 1.0 0.0 64.0 20.0 0.0 39.6486 1.0 22.0 0.7619047619047619 0.16 0 0.4059405940594059 1.8347498835870788 0 1 0 0.2376 0.2636 LOW |
| HG00097 expansionhunter chr1:1845824:1845872 1 2.0 24.0 23.0 20.0 -1.0 0.0 37.0 34.0 0.0 43.3784 0.0 48.0 0.5211267605633803 0.3066666666666666 0 0.4059405940594059 1.8265902247349064 0 1 0 0.7847 0.8853 HIGH |
| HG00097 expansionhunter chr1:1891654:1891658 1 2.0 2.0 4.0 4.0 2.0 0.0 60.0 4.0 0.0 40.7027 1.0 4.0 0.9375 0.0533333333333333 0 0.7128712871287128 1.854785288155074 0 1 0 0.1098 0.0718 LOW |
| HG00097 expansionhunter chr1:1904424:1904448 1 4.0 6.0 8.0 8.0 2.0 0.0 44.0 32.0 0.0 39.2432 1.0 24.0 0.5789473684210527 0.2133333333333333 0 0.3069306930693069 1.7889467525708116 0 1 0 0.6801 0.8002 HIGH |
| HG00097 expansionhunter chr1:1948412:1948428 1 2.0 8.0 10.0 10.0 2.0 0.0 78.0 20.0 0.0 37.7838 1.0 16.0 0.7959183673469388 0.1333333333333333 0 0.3366336633663366 1.908726104503474 0 1 0 0.3487 0.4133 WARNING |
| HG00097 expansionhunter chr1:2003928:2003940 1 6.0 2.0 3.0 2.0 1.0 0.0 51.0 19.0 0.0 45.8919 0.0 12.0 0.7285714285714285 0.12 0 0.7920792079207921 1.7281983769914673 0 1 0 0.7141 0.8336 HIGH |
| HG00097 expansionhunter chr1:2012279:2012309 1 5.0 6.0 8.0 6.0 2.0 0.0 23.0 59.0 0.0 40.8649 0.0 30.0 0.2804878048780488 0.2666666666666666 0 0.2871287128712871 1.8125908839274096 0 1 0 0.9037 0.985 HIGH |
| HG00097 expansionhunter chr1:2018334:2018389 1 5.0 11.0 11.0 10.0 0.0 0.0 29.0 43.0 0.0 34.7838 0.0 55.0 0.4027777777777778 0.3666666666666666 0 0.3663366336633663 1.8582276266039703 0 1 0 0.8468 0.9378 HIGH |
| HG00097 expansionhunter chr1:2112675:2112691 1 4.0 4.0 5.0 5.0 1.0 0.0 68.0 26.0 0.0 48.4054 1.0 16.0 0.723404255319149 0.1333333333333333 0 0.3762376237623762 1.7586128527134226 0 1 0 0.371 0.4441 WARNING |
| HG00097 expansionhunter chr1:2173095:2173103 1 4.0 2.0 2.0 1.0 0.0 0.0 44.0 8.0 0.0 41.6757 0.0 8.0 0.8461538461538461 0.0533333333333333 0 0.504950495049505 1.962570773285248 0 0 0 0.6207 0.7324 HIGH |
| HG00097 expansionhunter chr1:2207909:2207955 1 2.0 23.0 25.0 20.0 2.0 0.0 25.0 65.0 0.0 39.8919 0.0 46.0 0.2777777777777778 0.3333333333333333 0 0.5841584158415841 1.7558294024999062 0 1 0 0.7201 0.8388 HIGH |
| HG00097 expansionhunter chr1:2219851:2219871 1 5.0 4.0 4.0 3.0 0.0 0.0 21.0 9.0 0.0 41.7568 0.0 20.0 0.7 0.1333333333333333 0 0.4752475247524752 1.8595044600250856 0 1 0 0.7221 0.8402 HIGH |
| HG00097 expansionhunter chr1:2345829:2345855 1 2.0 13.0 14.0 10.0 1.0 0.0 24.0 25.0 0.0 47.1892 0.0 26.0 0.4897959183673469 0.1866666666666666 0 0.5247524752475248 1.918085500267672 0 1 0 0.3912 0.4822 WARNING |
| HG00097 expansionhunter chr1:2371211:2371241 1 3.0 10.0 13.0 10.0 3.0 0.0 27.0 40.0 0.0 50.1892 0.0 30.0 0.4029850746268656 0.26 0 0.5148514851485149 1.8305650137637768 0 1 0 0.796 0.8924 HIGH |
| HG00097 expansionhunter chr1:2431330:2431346 1 2.0 8.0 9.0 8.0 1.0 0.0 41.0 32.0 0.0 48.6486 0.0 16.0 0.5616438356164384 0.12 0 0.5841584158415841 1.916600527430936 0 1 0 0.2435 0.2759 LOW |
| HG00097 expansionhunter chr1:2435454:2435489 1 7.0 5.0 5.0 4.0 0.0 0.0 39.0 30.0 0.0 39.0 0.0 35.0 0.5652173913043478 0.2333333333333333 0 0.5742574257425742 1.9335830591930787 0 1 0 0.7708 0.8778 HIGH |
| HG00097 expansionhunter chr1:2449499:2449535 1 4.0 9.0 9.0 8.0 0.0 0.0 17.0 48.0 0.0 40.9459 0.0 36.0 0.2615384615384615 0.24 0 0.5247524752475248 1.883813685247404 0 1 0 0.8208 0.9087 HIGH |
| HG00097 expansionhunter chr1:2508612:2508630 1 2.0 9.0 11.0 9.0 2.0 0.0 35.0 18.0 0.0 49.0541 0.0 18.0 0.660377358490566 0.1466666666666666 0 0.3564356435643564 1.933754201968858 0 1 0 0.6421 0.7584 HIGH |
| HG00097 expansionhunter chr1:2566825:2566869 1 4.0 11.0 12.0 11.0 1.0 0.0 19.0 124.0 0.0 47.8378 0.0 44.0 0.1328671328671328 0.32 0 0.4158415841584158 1.9433008996133987 0 1 0 0.7715 0.8778 HIGH |
| HG00097 expansionhunter chr1:2580534:2580555 1 3.0 7.0 8.0 8.0 1.0 0.0 42.0 32.0 0.0 33.8108 1.0 21.0 0.5675675675675675 0.16 0 0.3762376237623762 1.9016529508428728 0 1 0 0.8111 0.9036 HIGH |
| HG00097 expansionhunter chr1:2600684:2600708 1 4.0 6.0 6.0 3.0 0.0 0.0 35.0 17.0 0.0 37.9459 0.0 24.0 0.6730769230769231 0.16 0 0.4455445544554455 1.8855340778294845 0 1 0 0.8571 0.9491 HIGH |
| HG00097 expansionhunter chr1:2782508:2782518 1 2.0 5.0 6.0 6.0 1.0 0.0 80.0 8.0 0.0 40.2162 1.0 10.0 0.9090909090909092 0.08 0 0.3168316831683168 1.539579197931996 0 1 0 0.0884 0.052 LOW |
| HG00097 expansionhunter chr1:2784990:2785010 1 10.0 2.0 4.0 3.0 2.0 0.0 33.0 28.0 0.0 40.1351 0.0 20.0 0.5409836065573771 0.2666666666666666 0 0.693069306930693 1.849024777034605 0 1 0 0.4897 0.5908 MODERATE |
| HG00097 expansionhunter chr1:2824891:2824941 1 2.0 25.0 23.0 22.0 -2.0 0.0 20.0 28.0 0.0 41.1081 0.0 50.0 0.4166666666666667 0.3066666666666666 0 0.5148514851485149 1.736792200782953 0 1 0 0.6974 0.8162 HIGH |
| HG00097 expansionhunter chr1:2847577:2847593 1 8.0 2.0 2.0 1.0 0.0 0.0 45.0 4.0 0.0 41.3514 0.0 16.0 0.9183673469387756 0.1066666666666666 0 0.6039603960396039 1.893728291589638 0 1 0 0.523 0.6287 MODERATE |
| HG00097 expansionhunter chr1:2899043:2899075 1 4.0 8.0 7.0 7.0 -1.0 0.0 54.0 32.0 0.0 41.5946 1.0 32.0 0.627906976744186 0.1866666666666666 0 0.4455445544554455 1.7976208220041985 0 1 0 0.8667 0.9568 HIGH |
| HG00097 expansionhunter chr1:2952909:2952927 1 2.0 9.0 12.0 12.0 3.0 0.0 60.0 22.0 0.0 36.7297 1.0 18.0 0.7317073170731707 0.16 0 0.6138613861386139 1.4586949056098804 0 1 0 0.0848 0.0452 LOW |
| HG00097 expansionhunter chr1:3089915:3089939 1 4.0 6.0 8.0 8.0 2.0 0.0 72.0 34.0 0.0 49.6216 1.0 24.0 0.6792452830188679 0.2133333333333333 0 0.4455445544554455 1.9438900377229549 0 1 0 0.9023 0.985 HIGH |
| HG00097 expansionhunter chr1:3109083:3109116 1 3.0 11.0 11.0 9.0 0.0 0.0 24.0 49.0 0.0 41.3514 0.0 33.0 0.3287671232876712 0.22 0 0.3267326732673267 1.8491066059426056 0 1 0 0.8115 0.9036 HIGH |
| HG00097 expansionhunter chr1:3152348:3152380 1 4.0 8.0 6.0 6.0 -2.0 0.0 58.0 10.0 0.0 44.9189 1.0 32.0 0.8529411764705882 0.16 0 0.4356435643564356 1.6103551420752904 0 1 0 0.4377 0.5542 MODERATE |
| HG00097 expansionhunter chr1:3175983:3176011 1 4.0 7.0 8.0 8.0 1.0 0.0 50.0 42.0 0.0 45.2432 1.0 28.0 0.5434782608695652 0.2133333333333333 0 0.5643564356435643 1.8171755888564567 0 1 0 0.6944 0.8135 HIGH |
| HG00097 expansionhunter chr1:3225530:3225574 1 2.0 22.0 21.0 17.0 -1.0 0.0 20.0 40.0 0.0 42.973 0.0 44.0 0.3333333333333333 0.28 0 0.5742574257425742 1.770047538912363 0 1 0 0.6244 0.7366 HIGH |
| HG00097 expansionhunter chr1:3240056:3240106 1 5.0 10.0 5.0 4.0 -5.0 0.0 31.0 16.0 0.0 39.6486 0.0 50.0 0.6595744680851063 0.1666666666666666 0 0.5544554455445545 1.0599256723036077 0 1 0 0.2903 0.3499 WARNING |
| HG00097 expansionhunter chr1:3273438:3273450 1 2.0 6.0 4.0 4.0 -2.0 0.0 64.0 12.0 0.0 36.7297 1.0 12.0 0.8421052631578947 0.0533333333333333 0 0.5247524752475248 1.856780293719988 0 1 0 0.2091 0.2239 LOW |
| HG00097 expansionhunter chr1:3273817:3273851 1 2.0 17.0 17.0 15.0 0.0 0.0 25.0 34.0 0.0 36.973 0.0 34.0 0.423728813559322 0.2266666666666666 0 0.4752475247524752 1.78618987974027 0 1 0 0.2897 0.3499 WARNING |
|
|
