Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,918,793 G→C 6.8% V301V (GTC→GTG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,918,7930GC 6.8% 254.9 / 5.1 85V301V (GTC→GTGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base G (37/41);  new base C (3/2);  total (42/43)
Fisher's exact test for biased strand distribution p-value = 6.68e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.46e-01

GATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCATGA  >  Exported/2918724‑2918862
                                                                     |                                                                     
gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg                                                                       <  1:3663839/70‑1 (MQ=255)
gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg                                                                       <  1:2907587/70‑1 (MQ=255)
 aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                                                     <  1:1445269/71‑1 (MQ=255)
 aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                                                     >  1:1402036/1‑71 (MQ=255)
  tAGTATCCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACt                                                                    <  1:5361374/71‑1 (MQ=255)
    gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                  <  1:2635760/71‑1 (MQ=255)
    gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                  <  1:3007956/71‑1 (MQ=255)
    gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                  <  1:1345165/71‑1 (MQ=255)
    gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                  <  1:2452414/71‑1 (MQ=255)
       tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                                                >  1:4739036/1‑70 (MQ=255)
         cATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCAtcc                                                             >  1:3895276/1‑69 (MQ=255)
          aTACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATAcc                                                            >  1:4716868/1‑71 (MQ=255)
           tACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                  <  1:3943634/64‑1 (MQ=255)
            ccGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc                                                          >  1:1221099/2‑71 (MQ=255)
             cGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc                                                          >  1:4455993/1‑70 (MQ=255)
             cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                          >  1:1584815/1‑70 (MQ=255)
             cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                          <  1:1832383/70‑1 (MQ=255)
             cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                          >  1:2323733/1‑70 (MQ=255)
             cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                          >  1:4756248/1‑70 (MQ=255)
             cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                          >  1:2264626/1‑70 (MQ=255)
                ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg                                                      <  1:818793/71‑1 (MQ=255)
                ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg                                                      <  1:2992857/71‑1 (MQ=255)
                ttttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                                                      <  1:1080511/71‑1 (MQ=255)
                  ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                                                      >  1:627066/1‑69 (MQ=255)
                  ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                     <  1:5079649/70‑1 (MQ=255)
                  ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                     <  1:1652947/70‑1 (MQ=255)
                  ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                     <  1:132974/70‑1 (MQ=255)
                    ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                                                    <  1:2975957/69‑1 (MQ=255)
                    ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg                                                   <  1:3210685/70‑1 (MQ=255)
                       ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                                               <  1:4915402/71‑1 (MQ=255)
                        cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                                               >  1:4355450/1‑70 (MQ=255)
                        cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                                               >  1:1270875/1‑70 (MQ=255)
                          gATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                                                     <  1:1376599/46‑1 (MQ=255)
                           aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                  <  1:879623/48‑1 (MQ=255)
                           aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                     <  1:3617310/61‑1 (MQ=255)
                           aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                                                    <  1:5396164/62‑1 (MQ=255)
                           aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt                                            >  1:2346855/1‑70 (MQ=255)
                           aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt                                            <  1:4201521/70‑1 (MQ=255)
                            tCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt                                            <  1:487271/69‑1 (MQ=255)
                             cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                                                     >  1:885537/1‑43 (MQ=255)
                             cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                                                >  1:3819288/1‑48 (MQ=255)
                             cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                                                >  1:243394/1‑48 (MQ=255)
                             cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                                                >  1:4886503/1‑48 (MQ=255)
                             cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg                                                   >  1:5607975/1‑61 (MQ=255)
                             cAAAAACAATGCTGGCGGCAGATTCGAAGACCTAATCAGTGACTTCCa                                                                >  1:5198671/1‑48 (MQ=255)
                              aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAgg                                                  >  1:2195743/1‑61 (MQ=255)
                              aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt                                        >  1:1040042/1‑71 (MQ=255)
                              aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt                                        >  1:1574564/1‑71 (MQ=255)
                                 aaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCg                                     >  1:2308722/1‑71 (MQ=255)
                                  aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                                                      >  1:2314143/1‑53 (MQ=255)
                                  aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc                                    >  1:234154/1‑71 (MQ=255)
                                  aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc                                    <  1:2687385/71‑1 (MQ=255)
                                   cAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTcc                                      >  1:2137888/1‑68 (MQ=255)
                                    aaTGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCa                                  >  1:4400442/1‑71 (MQ=255)
                                     aTGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCAt                                 >  1:1178884/1‑71 (MQ=255)
                                       gCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATa                                                              >  1:254083/1‑40 (MQ=255)
                                              gcAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc                        <  1:3290718/71‑1 (MQ=255)
                                                 gATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTc                             >  1:5507081/1‑63 (MQ=255)
                                                  aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                     <  1:1340324/38‑1 (MQ=255)
                                                  aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa                                             <  1:1511454/46‑1 (MQ=255)
                                                  aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa                                             <  1:3330796/46‑1 (MQ=255)
                                                  aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa                                             <  1:2010187/46‑1 (MQ=255)
                                                  aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc                        <  1:3529722/67‑1 (MQ=255)
                                                   ttCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGcg                   <  1:4182252/71‑1 (MQ=255)
                                                    tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                                                    <  1:3882795/37‑1 (MQ=255)
                                                    tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                                                    <  1:1340242/37‑1 (MQ=255)
                                                    tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc                        >  1:4531460/1‑65 (MQ=255)
                                                    tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGc                    >  1:434607/1‑69 (MQ=255)
                                                    tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGc                    >  1:3393762/1‑69 (MQ=255)
                                                           ccTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTgg           <  1:2863999/71‑1 (MQ=255)
                                                              catcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGgtcg        >  1:2329362/1‑71 (MQ=255)
                                                               atcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGc                         >  1:336684/1‑53 (MQ=255)
                                                               atcaGTAACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt             >  1:9642/1‑65 (MQ=255)
                                                               atcaGTAACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt             >  1:3158/1‑65 (MQ=255)
                                                                tcaGTGACTTCCATACCGCCATGTAGGCCAAAttct                                         <  1:2308195/36‑1 (MQ=255)
                                                                tcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt             <  1:1716639/64‑1 (MQ=255)
                                                                 caGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCa     >  1:3211959/1‑71 (MQ=255)
                                                                  aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt    <  1:4536450/71‑1 (MQ=255)
                                                                  aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt    >  1:3955391/1‑71 (MQ=255)
                                                                  aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt    >  1:3066760/1‑71 (MQ=255)
                                                                   gTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCtt                           <  1:262123/47‑1 (MQ=255)
                                                                   gTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGgtcg        >  1:5034903/1‑66 (MQ=255)
                                                                    tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCAttt                               <  1:1504065/42‑1 (MQ=255)
                                                                    tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGtt              <  1:1916432/59‑1 (MQ=255)
                                                                    tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGtt              <  1:272027/59‑1 (MQ=255)
                                                                    tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTg            <  1:2790097/61‑1 (MQ=255)
                                                                    tGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCATGa  <  1:1019896/71‑1 (MQ=255)
                                                                     |                                                                     
GATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCATGA  >  Exported/2918724‑2918862

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: