| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,391,412 | A→G | 7.5% | R446R (CGT→CGC) | recQ ← | ATP‑dependent DNA helicase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,391,412 | 0 | A | G | 7.5% | 313.1 / 13.5 | 107 | R446R (CGT→CGC) | recQ | ATP‑dependent DNA helicase |
| Reads supporting (aligned to +/- strand): ref base A (55/44); new base G (6/2); total (61/46) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.62e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.47e-01 | |||||||||||
Only 100 of 109 total aligned reads displayed.
CAATGTTCATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGATTCACACGAC > Exported/2391344‑2391479 | cAATGTTCATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATAc > 1:2327353/1‑70 (MQ=255)cAATGTTCATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACg > 1:256847/1‑71 (MQ=255) aaTGTTCATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGc > 1:2955834/1‑71 (MQ=255) gTTCATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTgg > 1:4297179/1‑71 (MQ=255) ttCATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGt > 1:1207719/1‑71 (MQ=255) cATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGtta > 1:3129399/1‑71 (MQ=255) cATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGtta > 1:3421732/1‑71 (MQ=255) cATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGtta > 1:2976580/1‑71 (MQ=255) cATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGtta > 1:2095795/1‑71 (MQ=255) cATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGtta > 1:439930/1‑71 (MQ=255) aTGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGttat < 1:787703/71‑1 (MQ=255) aTGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGttat < 1:2883765/71‑1 (MQ=255) aTGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGttat < 1:1909518/71‑1 (MQ=255) aTGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGttat < 1:1162371/71‑1 (MQ=255) aTGGCTTTTATCACGGACCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGttat < 1:644301/71‑1 (MQ=255) tGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGttat < 1:3736710/70‑1 (MQ=255) cTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGc < 1:4232116/71‑1 (MQ=255) cTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGc < 1:2055735/71‑1 (MQ=255) cTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGACGCGGATACGCTGGTTATTAGc < 1:37532/71‑1 (MQ=255) tttATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGcac > 1:3409226/1‑71 (MQ=255) tttATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGcac > 1:3893260/1‑71 (MQ=255) ttATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTg > 1:2312871/1‑59 (MQ=255) ttATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTg > 1:2867117/1‑59 (MQ=255) ttATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGtta > 1:3615952/1‑63 (MQ=255) ttATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGcac > 1:4721251/1‑70 (MQ=255) ttATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGcac < 1:3818787/70‑1 (MQ=255) aCGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGaa < 1:2185495/71‑1 (MQ=255) aTGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTc > 1:4691627/1‑71 (MQ=255) aTGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTc > 1:4606676/1‑71 (MQ=255) tGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTcc < 1:4144052/71‑1 (MQ=255) tGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTc > 1:3725883/1‑70 (MQ=255) gCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGcac > 1:3251719/1‑56 (MQ=255) gCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAAt > 1:2451566/1‑63 (MQ=255) ccATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATGCGCTGGTTATTAGCACCACGAATCACTTccac > 1:3946759/1‑71 (MQ=255) ccATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGc > 1:1581609/1‑42 (MQ=255) ccATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTccac > 1:479069/1‑71 (MQ=255) ccATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTccac > 1:3583594/1‑71 (MQ=255) ccATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTccac > 1:1244037/1‑71 (MQ=255) aTAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCATGAATCACTTccacca > 1:304474/1‑71 (MQ=255) tAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAAt < 1:3043267/59‑1 (MQ=255) tAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAAt < 1:378477/59‑1 (MQ=255) tAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAAt < 1:775301/59‑1 (MQ=255) tAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTccacca > 1:4357200/1‑70 (MQ=255) cTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATa < 1:1950518/70‑1 (MQ=255) tttCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGccccac > 1:4663861/1‑50 (MQ=255) tttCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGcaccac > 1:359061/1‑50 (MQ=255) tttCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGcaccac > 1:1798448/1‑50 (MQ=255) ttCAGTTTGTCATGACCATAGTCGCGGATACGCTGGtt < 1:1900892/38‑1 (MQ=255) tCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCGCCACGAATCACTTCCACCACATAAcc > 1:2974909/1‑70 (MQ=255) tCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCAGATAAc > 1:3081985/1‑69 (MQ=255) tCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAAcc < 1:358528/70‑1 (MQ=255) tCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAAcc < 1:100465/70‑1 (MQ=255) tCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAAcc > 1:2195610/1‑70 (MQ=255) tCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAAcc > 1:2440390/1‑70 (MQ=255) tCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAAc > 1:4015964/1‑69 (MQ=255) tCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAAc > 1:3660517/1‑69 (MQ=255) cAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAAcc < 1:3233185/69‑1 (MQ=255) cAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCa > 1:2560740/1‑71 (MQ=255) gTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACt > 1:1154756/1‑53 (MQ=255) gTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTccac < 1:44963/58‑1 (MQ=255) gTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATc > 1:679431/1‑71 (MQ=255) ttGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACg < 1:422650/44‑1 (MQ=255) ttGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACg < 1:1911079/44‑1 (MQ=255) tGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATaa > 1:2520707/1‑62 (MQ=255) tGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATccc > 1:506625/1‑70 (MQ=255) gTCATGACCATAGTCGCGGATGCGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCa < 1:1412730/70‑1 (MQ=255) tCATGACCATAGTCGCGGATGCGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCa < 1:1630707/69‑1 (MQ=255) tCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCaa < 1:3491019/70‑1 (MQ=255) tCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCaa < 1:3566520/70‑1 (MQ=255) tCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCaa < 1:2495093/70‑1 (MQ=255) tCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCaa < 1:4025672/70‑1 (MQ=255) aTGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCaa < 1:3047687/68‑1 (MQ=255) aTGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAAc > 1:3107181/1‑70 (MQ=255) aTAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGAt < 1:1210335/71‑1 (MQ=255) aTAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGAt < 1:2361979/71‑1 (MQ=255) aTAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGAt < 1:2455231/71‑1 (MQ=255) tAGTCGCGGATGCGCTGGTTATTAGCACCACGAATCACTTc > 1:3834246/1‑41 (MQ=255) tAGTCGCGGATGCGCTGGTTATTAGCACCACGAATCACTTc > 1:1001324/1‑41 (MQ=255) tAGTCGCGGATGCGCTGGTTATTAGCACCACGAATCACTTc > 1:782651/1‑41 (MQ=255) tAGTCGCGGATGCGCTGGTTATTAGCACCACGAATCACTTc > 1:3075778/1‑41 (MQ=255) tAGTCGCGGATGCGCTGGTTATTAGCACCACGAATCACTTc > 1:3614718/1‑41 (MQ=255) tAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGAtt < 1:1996480/71‑1 (MQ=255) tAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGAtt < 1:501150/71‑1 (MQ=255) tAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGAtt > 1:1448108/1‑71 (MQ=255) tAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGAt > 1:3817638/1‑70 (MQ=255) cgcgGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGATTcaca > 1:2258604/1‑71 (MQ=255) gcgGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGATTCacac < 1:1555510/71‑1 (MQ=255) gcgGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGATTCacac > 1:777868/1‑71 (MQ=255) cgGATACGCTGGTTATTAGCACCACGAATCACTTccacca < 1:3307084/40‑1 (MQ=255) ggATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAAcc < 1:1082886/46‑1 (MQ=255) ggATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGATTCACACGa > 1:2341749/1‑71 (MQ=255) gATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAAcc < 1:177663/56‑1 (MQ=255) gATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAAc < 1:3562545/55‑1 (MQ=255) gATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAAc < 1:3527373/55‑1 (MQ=255) gATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAAc < 1:725329/55‑1 (MQ=255) gATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAAc < 1:187418/55‑1 (MQ=255) aTACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCt > 1:1354486/1‑58 (MQ=255) aTACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGATTCACACGAc > 1:3314443/1‑70 (MQ=255) aTACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGATTCACACGAc > 1:1730090/1‑70 (MQ=255) aCGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGa > 1:1116063/1‑58 (MQ=255) | CAATGTTCATGGCTTTTATCACGGCCCATGCCATAGACTTTCAGTTTGTCATGACCATAGTCGCGGATACGCTGGTTATTAGCACCACGAATCACTTCCACCACATAACCCATCCCAAACCGCTGATTCACACGAC > Exported/2391344‑2391479 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |