Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,918,982 C→G 15.0% G238G (GGG→GGC argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,918,9820CG15.0% 276.7 / 36.7 113G238G (GGG→GGCargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base C (48/47);  new base G (4/13);  total (53/60)
Fisher's exact test for biased strand distribution p-value = 6.26e-02
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.77e-01

Only 100 of 119 total aligned reads displayed.

GCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCA  >  Exported/2918912‑2919052
                                                                      |                                                                      
gCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTcc                                                                        >  1:1172182/1‑71 (MQ=255)
gCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATACGTTCCGCCCATTTCTCTTTTGCTTcc                                                                        >  1:55466/1‑71 (MQ=255)
 catcatCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccc                                                                       >  1:12627/1‑71 (MQ=255)
     atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCa                                                                    <  1:600565/70‑1 (MQ=255)
     atcTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAt                                                                   <  1:642793/71‑1 (MQ=255)
         tGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa                                                                >  1:2524563/1‑70 (MQ=255)
          gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc                                                                  <  1:3348737/67‑1 (MQ=255)
          gCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc                                                                  <  1:4359960/67‑1 (MQ=255)
          cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc                                                                  <  1:2518542/64‑1 (MQ=255)
          cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc                                                                  <  1:2978611/64‑1 (MQ=255)
          cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATc                                                                  <  1:4659545/64‑1 (MQ=255)
          cgcgTTCACCTGATACCCGCGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGac                                                               <  1:1653285/67‑1 (MQ=255)
           cTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGacac                                                             <  1:2582553/71‑1 (MQ=255)
            tGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc                                                            >  1:3312802/1‑71 (MQ=255)
             gTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc                                                            >  1:4240909/1‑70 (MQ=255)
             gTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACAcc                                                            >  1:2576412/1‑70 (MQ=255)
               tCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca                                                          >  1:3972439/1‑70 (MQ=255)
               tCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca                                                          >  1:4717875/1‑70 (MQ=255)
                cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa                                                                >  1:5014086/1‑63 (MQ=255)
                cACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa                                                                >  1:863160/1‑63 (MQ=255)
                   cTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCAta                                                                  <  1:4452544/58‑2 (MQ=255)
                    tGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTccc                                                                       <  1:106598/52‑1 (MQ=255)
                    tGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcacac                                                       <  1:3082147/68‑1 (MQ=255)
                     gATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCg                                                   >  1:3528390/1‑71 (MQ=255)
                      atatTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCgg                                                  <  1:1257813/71‑1 (MQ=255)
                         ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcac                                                         <  1:2729168/61‑1 (MQ=255)
                         ttCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGtat                                               <  1:2629652/71‑1 (MQ=255)
                           cgcGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAg                                             <  1:2516815/69‑1 (MQ=255)
                           cACGCAGCAATGCAATCCGTTCCTCCCATTTCTCTTTTGCTTCCCCCATCg                                                                 <  1:1300520/51‑1 (MQ=255)
                           cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca                                                              >  1:502640/1‑54 (MQ=255)
                           cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca                                                              >  1:1828083/1‑54 (MQ=255)
                           cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca                                                              >  1:774934/1‑54 (MQ=255)
                           cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca                                                              >  1:2329009/1‑54 (MQ=255)
                           cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGtata                                              <  1:4063829/70‑1 (MQ=255)
                           cACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta                                                >  1:844675/1‑68 (MQ=255)
                            gcGCAGCAGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGta                                                >  1:4522728/2‑67 (MQ=255)
                             cGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGa                                            >  1:1364132/1‑70 (MQ=255)
                              gcagcaGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATa                                          <  1:5687885/71‑1 (MQ=255)
                              gcagcaGCGCAATCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATa                                          <  1:4846009/71‑1 (MQ=255)
                               cagcaATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATa                                          >  1:3362456/1‑70 (MQ=255)
                                  caatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATc                                                                  <  1:4580514/43‑1 (MQ=255)
                                   aatgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCca                                                          >  1:1131958/1‑50 (MQ=255)
                                    atgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATTGATaaa                                        <  1:7510/67‑1 (MQ=255)
                                    atgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGt                                      >  1:5590788/1‑69 (MQ=255)
                                     tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa                                                                <  1:2491986/42‑1 (MQ=255)
                                     tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGa                                                                <  1:1982120/42‑1 (MQ=255)
                                     tgcaatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg                                   <  1:2816233/71‑1 (MQ=255)
                                      gcaatCCGTTCCGCCCATTTCTCTTTTGCTTCACCCATCGACACCCACACATCGGTATAGATAAAGTCAg                                   >  1:2352198/1‑70 (MQ=255)
                                      gcaatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGtata                                              >  1:4372634/1‑59 (MQ=255)
                                      gcaatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGta                                                >  1:4387439/1‑57 (MQ=255)
                                       caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcacaca                                                      >  1:5061525/1‑50 (MQ=255)
                                       caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca                                                        >  1:2840885/1‑48 (MQ=255)
                                       caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCcaca                                                        >  1:81178/1‑48 (MQ=255)
                                       caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCa                                    >  1:5453245/1‑68 (MQ=255)
                                       caatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGCCACCCACACGTCGG‑‑TAGATAAAGTCCGCGcc                               >  1:301910/1‑71 (MQ=255)
                                          tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc                                  <  1:2691474/67‑1 (MQ=255)
                                          tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc                                  <  1:3498023/67‑1 (MQ=255)
                                          tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc                                  <  1:1403631/67‑1 (MQ=255)
                                          tCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc                                  <  1:4840095/67‑1 (MQ=255)
                                            cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca                                                              >  1:222059/1‑37 (MQ=255)
                                            cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca                                                              >  1:4227999/1‑37 (MQ=255)
                                            cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGaca                                                              >  1:3073779/1‑37 (MQ=255)
                                            cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc                            <  1:70331/71‑1 (MQ=255)
                                                ccGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg                                   >  1:1860339/1‑60 (MQ=255)
                                                 cGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGtat                                               >  1:1695806/1‑47 (MQ=255)
                                                   cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta                                                >  1:4553246/1‑44 (MQ=255)
                                                   cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                     <  1:3629874/71‑1 (MQ=255)
                                                   cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                     >  1:5491266/1‑71 (MQ=255)
                                                   cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                     <  1:3060935/71‑1 (MQ=255)
                                                   cccACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAAcgc                       <  1:5240011/69‑3 (MQ=255)
                                                    ccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAc                                >  1:5649250/1‑59 (MQ=255)
                                                     cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGta                                                >  1:202856/1‑42 (MQ=255)
                                                     cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCtt                   <  1:1871039/71‑1 (MQ=255)
                                                     cATTTCACTTTTGCTTCCCCCATCGACCCCCACACATCGGta                                                >  1:6130/1‑42 (MQ=38)
                                                      aTTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATaaa                                        <  1:5070797/49‑1 (MQ=255)
                                                      aTTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATaaa                                        <  1:3777394/49‑1 (MQ=255)
                                                        ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc                                  >  1:5249031/1‑53 (MQ=255)
                                                        ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGc                                  >  1:2054529/1‑53 (MQ=255)
                                                        ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc                >  1:1655064/1‑71 (MQ=255)
                                                        ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc                >  1:4237013/1‑71 (MQ=255)
                                                        ttCTCTTTTGCTTCCCCCATAGACACCCACACATCGGTATAGATAAAGt                                      >  1:1567805/1‑49 (MQ=255)
                                                        ttCTCTTTGGCCTCGCCCATCGACACCCACACGTCgg                                                  <  1:1199738/37‑1 (MQ=21)
                                                         tctcTTTTGCTTCCCCCATCGACACCCACACATCGGta                                                >  1:5169201/1‑38 (MQ=255)
                                                         tctcTTTTGCTTCCCCCATCGACACCCACACATCGGta                                                >  1:5175639/1‑38 (MQ=255)
                                                         tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTc                                     <  1:4605952/49‑1 (MQ=255)
                                                         tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTc                                     <  1:532981/49‑1 (MQ=255)
                                                         tctcTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTc                                     <  1:4978463/49‑1 (MQ=255)
                                                           tctTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg                                   <  1:2367910/49‑1 (MQ=255)
                                                           tctTTTGCTTCCCCCATCGACACACACACATCGGTATAGATAAAGTCAg                                   <  1:1923211/49‑1 (MQ=255)
                                                             ttttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg                                   >  1:1170137/1‑47 (MQ=255)
                                                             ttttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGa              <  1:2528728/68‑1 (MQ=255)
                                                               ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACa            <  1:4651977/68‑1 (MQ=255)
                                                               ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCt         >  1:5557643/1‑71 (MQ=255)
                                                                 gCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt        <  1:2004203/70‑1 (MQ=255)
                                                                  cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt        <  1:2252240/69‑1 (MQ=255)
                                                                  cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc       <  1:220242/70‑1 (MQ=255)
                                                                  cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc       <  1:4167243/70‑1 (MQ=255)
                                                                   ttCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAg                                   <  1:2736064/41‑1 (MQ=255)
                                                                      ccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagtca  <  1:1016743/71‑1 (MQ=255)
                                                                      ccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt    >  1:2729781/1‑69 (MQ=255)
                                                                      |                                                                      
GCATCATCTTGCTGTTCACCTGATATTCACGCAGCAATGCAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCA  >  Exported/2918912‑2919052

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: