Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Gene: SPG11 Variant Count: 146   RVIS Percentile: 22.7884%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
15-44855324-C-T SPG11 ENST00000261866 G2443S missense 1 2569 1.946E-4 32.0
15-44855349-A-G SPG11 ENST00000261866 2434G synonymous 1 2586 1.933E-4 13.34
15-44855394-C-CTT SPG11 ENST00000261866 2419 frameshift 1 2591 1.93E-4 -
15-44855454-C-T SPG11 ENST00000261866 2399K synonymous 73 2602 0.014 12.8
15-44855501-T-C SPG11 ENST00000261866 - split acceptor 1 2590 1.931E-4 24.3
15-44856827-G-A SPG11 ENST00000261866 L2357F missense 11 2587 0.0021 25.0
15-44856873-G-A SPG11 ENST00000261866 2341Y synonymous 126 2557 0.0246 9.89
15-44856890-T-C SPG11 ENST00000261866 I2336V missense 1 2530 1.976E-4 13.84
15-44858101-C-T SPG11 ENST00000261866 G2317D missense 1 2545 1.965E-4 19.61
15-44858107-T-G SPG11 ENST00000261866 N2315T missense 1 2503 1.998E-4 25.6
15-44858116-A-C SPG11 ENST00000261866 M2312R missense 1 2512 1.99E-4 10.58
15-44858117-T-C SPG11 ENST00000261866 M2312V missense 1 2513 1.99E-4 13.6
15-44858164-TTGG-T SPG11 ENST00000261866 TK2295-2296K inframe deletion 1 2555 1.957E-4 22.9
15-44858184-C-CTGG SPG11 ENST00000261866 Q2289HQ inframe insertion 1 2561 1.952E-4 15.96
15-44858184-C-G SPG11 ENST00000261866 Q2289H missense 1 2561 1.952E-4 19.5
15-44858195-G-A SPG11 ENST00000261866 R2286* stop gain 1 2565 1.949E-4 47.0
15-44859664-C-T SPG11 ENST00000261866 A2238T missense 1 2631 1.9E-4 34.0
15-44859720-T-C SPG11 ENST00000261866 N2219S missense 1 2629 1.902E-4 26.5
15-44859744-C-T SPG11 ENST00000261866 R2211H missense 3 2619 5.727E-4 23.0
15-44859751-G-A SPG11 ENST00000261866 R2209C missense 1 2618 1.91E-4 35.0
15-44861655-A-G SPG11 ENST00000261866 F2176L missense 1 2502 1.998E-4 25.3
15-44862794-T-C SPG11 ENST00000261866 I2136V missense 2 2570 3.891E-4 7.423
15-44864894-C-T SPG11 ENST00000261866 2110G synonymous 24 2628 0.0046 16.45
15-44864905-C-T SPG11 ENST00000261866 V2107I missense 1 2633 1.899E-4 34.0
15-44864946-C-T SPG11 ENST00000261866 R2093H missense 1 2637 1.896E-4 25.0
15-44864966-C-A SPG11 ENST00000261866 2086L synonymous 50 2637 0.0095 14.03
15-44865000-T-C SPG11 ENST00000261866 N2075S missense 30 2633 0.0057 0.002
15-44865774-C-T SPG11 ENST00000261866 R2059Q missense 1 2611 1.915E-4 13.89
15-44865777-G-A SPG11 ENST00000261866 T2058I missense 1 2615 1.912E-4 23.6
15-44865859-G-C SPG11 ENST00000261866 R2031G missense 1 2580 1.938E-4 27.3
15-44865907-C-T SPG11 ENST00000261866 D2015N missense 1 2554 1.958E-4 34.0
15-44865940-A-C SPG11 ENST00000261866 L2004V missense 1 2508 1.994E-4 23.7
15-44867131-C-T SPG11 ENST00000261866 R1992Q missense 1 2459 2.033E-4 28.2
15-44876018-G-A SPG11 ENST00000261866 H1954Y missense 2 2612 3.828E-4 14.1
15-44876060-G-A SPG11 ENST00000261866 1940L synonymous 1 2603 1.921E-4 11.86
15-44876082-A-G SPG11 ENST00000559822 M114T missense 2 2599 3.848E-4 0.944
15-44876085-G-C SPG11 ENST00000261866 I1931M missense 2 2602 3.843E-4 14.64
15-44876125-G-T SPG11 ENST00000261866 A1918D missense 2 2610 3.831E-4 31.0
15-44876255-G-A SPG11 ENST00000261866 Q1875* stop gain 1 2608 1.917E-4 37.0
15-44876265-A-G SPG11 ENST00000261866 1871D synonymous 1 2603 1.921E-4 3.28
15-44876281-C-T SPG11 ENST00000261866 C1866Y missense 1 2601 1.922E-4 15.77
15-44876299-A-G SPG11 ENST00000261866 L1860P missense 1 2598 1.925E-4 25.8
15-44876314-A-G SPG11 ENST00000261866 L1855S missense 1 2599 1.924E-4 23.0
15-44876381-A-C SPG11 ENST00000261866 S1833A missense 1 2608 1.917E-4 23.3
15-44876408-G-A SPG11 ENST00000261866 R1824* stop gain 1 2605 1.919E-4 40.0
15-44876471-G-A SPG11 ENST00000261866 1803L synonymous 1 2543 1.966E-4 11.43
15-44876497-A-G SPG11 ENST00000261866 L1794P missense 1 2501 1.999E-4 28.3
15-44876628-GGAA-G SPG11 ENST00000261866 SS1749-1750S inframe deletion 1 2579 1.939E-4 0.417
15-44876651-T-C SPG11 ENST00000261866 I1743V missense 1 2589 1.931E-4 0.079
15-44876728-T-C SPG11 ENST00000261866 H1717R missense 1 2477 2.019E-4 0.965
15-44877834-C-A SPG11 ENST00000261866 E1707D missense; splice region 8 2394 0.0017 23.5
15-44877867-A-C SPG11 ENST00000261866 1696A synonymous 1 2568 1.947E-4 7.338
15-44877897-G-A SPG11 ENST00000261866 1686F synonymous 1 2608 1.917E-4 12.98
15-44881546-A-G SPG11 ENST00000261866 F1604L missense 1 2555 1.957E-4 12.67
15-44887503-C-G SPG11 ENST00000261866 R1530T missense 1 2608 1.917E-4 27.8
15-44887514-T-C SPG11 ENST00000261866 1526T synonymous 1 2611 1.915E-4 9.489
15-44887602-T-C SPG11 ENST00000261866 N1497S missense 1 2608 1.917E-4 1.308
15-44888280-C-T SPG11 ENST00000261866 - splice donor 1 2524 1.981E-4 27.2
15-44888305-G-A SPG11 ENST00000261866 1470L synonymous 1 2543 1.966E-4 11.33
15-44888344-C-G SPG11 ENST00000261866 W1457C missense 1 2563 1.951E-4 25.4
15-44888393-A-G SPG11 ENST00000261866 L1441S missense 1 2587 1.933E-4 16.09
15-44888455-G-A SPG11 ENST00000261866 1420S synonymous 1 2590 1.931E-4 5.347
15-44888502-GC-G SPG11 ENST00000261866 1404 frameshift 1 2559 1.954E-4 26.4
15-44889033-AT-A SPG11 ENST00000261866 1370 frameshift 1 2631 1.9E-4 35.0
15-44889036-A-T SPG11 ENST00000261866 N1369K missense 1 2632 1.9E-4 23.7
15-44889071-T-C SPG11 ENST00000261866 S1358G missense 1 2618 1.91E-4 26.0
15-44889073-A-G SPG11 ENST00000261866 L1357P missense 1 2618 1.91E-4 23.5
15-44889117-T-C SPG11 ENST00000261866 1342Q synonymous 8 2560 0.0016 2.715
15-44889125-T-C SPG11 ENST00000261866 S1340G missense 1 2547 1.963E-4 20.2
15-44890476-G-C SPG11 ENST00000261866 Q1330E missense 1 2586 1.933E-4 24.2
15-44890903-T-C SPG11 ENST00000261866 K1273R missense 6 2531 0.0012 14.3
15-44891006-C-G SPG11 ENST00000261866 V1239L missense 1 2524 1.981E-4 0.024
15-44892667-C-G SPG11 ENST00000261866 Q1228H missense; splice region 1 2602 1.922E-4 23.1
15-44892780-A-T SPG11 ENST00000261866 Y1191N missense 1 2603 1.921E-4 25.8
15-44898257-A-G SPG11 ENST00000261866 1162F synonymous 2 2606 3.837E-4 10.51
15-44900655-T-C SPG11 ENST00000261866 Y1147C missense 1 2610 1.916E-4 27.5
15-44900670-G-C SPG11 ENST00000261866 S1142C missense 1 2617 1.911E-4 17.08
15-44900675-C-T SPG11 ENST00000261866 1140L synonymous 230 2614 0.044 15.62
15-44900718-A-G SPG11 ENST00000261866 L1126P missense 1 2628 1.903E-4 29.9
15-44903115-C-CAGGG SPG11 ENST00000261866 1071-1072 frameshift 1 2589 1.931E-4 33.0
15-44905736-T-G SPG11 ENST00000261866 - split acceptor 1 2478 2.018E-4 25.5
15-44907562-T-C SPG11 ENST00000261866 K1013E missense; splice region 66 2497 0.0132 15.76
15-44907597-A-C SPG11 ENST00000261866 L1001R missense 1 2531 1.976E-4 28.2
15-44907605-C-T SPG11 ENST00000261866 998E synonymous 1 2543 1.966E-4 13.56
15-44907615-T-C SPG11 ENST00000261866 Y995C missense 1 2555 1.957E-4 25.6
15-44907696-C-G SPG11 ENST00000261866 G968A missense 1 2556 1.956E-4 23.8
15-44907712-T-G SPG11 ENST00000261866 963R synonymous 8 2545 0.0016 9.343
15-44907719-G-A SPG11 ENST00000261866 960F synonymous 1 2541 1.968E-4 11.86
15-44912387-C-A SPG11 ENST00000261866 - splice donor 1 2591 1.93E-4 26.0
15-44912553-C-T SPG11 ENST00000261866 R890H missense 1 2596 1.926E-4 23.6
15-44912586-G-A SPG11 ENST00000261866 S879F missense 1 2585 1.934E-4 28.6
15-44914038-G-A SPG11 ENST00000261866 H847Y missense 1 2516 1.987E-4 8.783
15-44914071-A-G SPG11 ENST00000261866 Y836H missense 1 2504 1.997E-4 8.311
15-44914544-A-C SPG11 ENST00000261866 V773G missense; splice region 2 2518 3.971E-4 28.4
15-44914962-G-A SPG11 ENST00000261866 760C synonymous 1 2538 1.97E-4 10.94
15-44918573-T-C SPG11 ENST00000261866 K734E missense 1 2570 1.946E-4 23.4
15-44918604-G-A SPG11 ENST00000261866 723G synonymous 1 2560 1.953E-4 5.754
15-44918690-C-T SPG11 ENST00000261866 A695T missense 73 2443 0.0149 34.0
15-44918691-G-A SPG11 ENST00000261866 694S synonymous 1 2443 2.047E-4 12.17
15-44918693-T-G SPG11 ENST00000261866 S694R missense 1 2441 2.048E-4 11.04
15-44918700-A-C SPG11 ENST00000261866 691V synonymous 1 2418 2.068E-4 1.107
15-44920868-T-C SPG11 ENST00000261866 E689G missense; splice region 1 2569 1.946E-4 24.9
15-44920931-T-C SPG11 ENST00000261866 Y668C missense 1 2546 1.964E-4 23.0
15-44920983-G-A SPG11 ENST00000261866 R651* stop gain 1 2518 1.986E-4 37.0
15-44921542-T-C SPG11 ENST00000261866 I594V missense 1 2609 1.916E-4 10.91
15-44925740-A-C SPG11 ENST00000261866 D566E missense 91 2624 0.0173 11.0
15-44925748-C-T SPG11 ENST00000261866 V564I missense 1 2629 1.902E-4 18.54
15-44925817-G-A SPG11 ENST00000261866 Q541* stop gain 1 2627 1.903E-4 39.0
15-44925833-G-A SPG11 ENST00000261866 535A synonymous; splice region 4 2622 7.628E-4 15.11
15-44941203-C-A SPG11 ENST00000261866 G488V missense 1 2487 2.01E-4 29.0
15-44943757-A-G SPG11 ENST00000261866 F463S missense 1523 2212 0.3443 23.1
15-44943797-T-C SPG11 ENST00000261866 I450V missense 24 2636 0.0046 0.002
15-44943798-G-A SPG11 ENST00000261866 449T synonymous 24 2636 0.0046 6.953
15-44943857-C-A SPG11 ENST00000261866 V430L missense 1 2636 1.897E-4 0.002
15-44943903-T-G SPG11 ENST00000261866 K414N missense 1 2627 1.903E-4 22.8
15-44944037-C-T SPG11 ENST00000261866 E370K missense 100 2406 0.0208 25.0
15-44944041-A-T SPG11 ENST00000261866 H368Q missense 1 2395 2.088E-4 14.89
15-44944042-T-C SPG11 ENST00000261866 H368R missense 2 2387 4.189E-4 4.266
15-44944060-C-T SPG11 ENST00000261866 W362* stop gain 2 2269 4.407E-4 37.0
15-44944333-A-G SPG11 ENST00000261866 I334T missense 1 2610 1.916E-4 7.181
15-44944355-G-A SPG11 ENST00000261866 327L synonymous 1 2615 1.912E-4 7.113
15-44944355-G-C SPG11 ENST00000261866 L327V missense 1 2615 1.912E-4 10.17
15-44944398-G-A SPG11 ENST00000261866 312G synonymous 1 2612 1.914E-4 11.09
15-44944440-A-G SPG11 ENST00000261866 298C synonymous 1 2539 1.969E-4 1.607
15-44949321-C-A SPG11 ENST00000261866 V281F missense 1 2626 1.904E-4 7.816
15-44949329-T-A SPG11 ENST00000261866 N278I missense 2 2626 3.808E-4 17.32
15-44949354-C-T SPG11 ENST00000261866 V270I missense 48 2626 0.0091 23.6
15-44949400-G-C SPG11 ENST00000261866 254A synonymous 1 2626 1.904E-4 9.39
15-44949423-T-C SPG11 ENST00000261866 N247D missense 1 2625 1.905E-4 13.43
15-44949427-CAT-C SPG11 ENST00000261866 245 frameshift 1 2623 1.906E-4 23.7
15-44951340-T-C SPG11 ENST00000261866 M202V missense 1 2632 1.9E-4 0.239
15-44951453-G-A SPG11 ENST00000261866 S164L missense 4 2622 7.628E-4 25.0
15-44952663-C-A SPG11 ENST00000261866 A137S missense 1 2623 1.906E-4 0.908
15-44952677-C-T SPG11 ENST00000261866 S132N missense 1 2624 1.905E-4 21.3
15-44952711-T-G SPG11 ENST00000261866 K121Q missense 1 2626 1.904E-4 18.39
15-44952744-T-C SPG11 ENST00000261866 N110D missense 1 2628 1.903E-4 9.279
15-44952794-C-T SPG11 ENST00000261866 R93H missense 1 2629 1.902E-4 8.076
15-44952804-C-A SPG11 ENST00000261866 E90* stop gain 1 2627 1.903E-4 36.0
15-44955616-C-T SPG11 ENST00000261866 R77H missense 1 2479 2.017E-4 19.53
15-44955653-C-T SPG11 ENST00000261866 V65M missense 1 2376 2.104E-4 25.6
15-44955660-G-A SPG11 ENST00000261866 62S synonymous 1 2328 2.148E-4 14.18
15-44955740-C-T SPG11 ENST00000261866 E36K missense 1 1711 2.922E-4 31.0
15-44955762-C-A SPG11 ENST00000261866 M28I missense 1 1517 3.296E-4 10.77
15-44955764-T-C SPG11 ENST00000261866 M28V missense 1 1497 3.34E-4 0.004
15-44955818-C-T SPG11 ENST00000261866 A10T missense 1 1054 4.744E-4 22.8
15-44955830-C-T SPG11 ENST00000261866 G6R missense 2 937 0.0011 12.13