Data Browser v2

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


Gene: FUS Variant Count: 42   RVIS Percentile: 8.32154%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
16-31191541-C-T FUS ENST00000254108 2A synonymous 2 2560 3.906E-4 18.66
16-31193729-A-G FUS ENST00000254108 8Q synonymous 1 2620 1.908E-4 9.389
16-31193861-G-A FUS ENST00000254108 22G synonymous 1 2637 1.896E-4 15.27
16-31193885-T-C FUS ENST00000254108 30S synonymous 1 2637 1.896E-4 14.89
16-31193927-C-T FUS ENST00000254108 44S synonymous 1 2638 1.895E-4 8.835
16-31193942-C-A FUS ENST00000254108 49G synonymous 1221 2456 0.2486 17.19
16-31193948-C-T FUS ENST00000254108 51G synonymous 20 2638 0.0038 16.51
16-31193959-ATTC-A FUS ENST00000254108 YS55-56Y inframe deletion 3 2638 5.686E-4 9.616
16-31193972-C-T FUS ENST00000254108 59G synonymous 1 2638 1.895E-4 7.975
16-31193983-A-G FUS ENST00000254108 N63S missense; splice region 1 2638 1.895E-4 1.369
16-31195186-T-C FUS ENST00000254108 66Y synonymous 1 2638 1.895E-4 0.072
16-31195210-A-G FUS ENST00000254108 74G synonymous 1 2638 1.895E-4 9.634
16-31195219-G-C FUS ENST00000254108 77S synonymous 4 2633 7.596E-4 10.74
16-31195253-T-A FUS ENST00000254108 S89T missense 1 2636 1.897E-4 17.17
16-31195272-C-T FUS ENST00000254108 S95F missense 1 2636 1.897E-4 24.0
16-31195279-C-T FUS ENST00000254108 97Y synonymous 1623 2008 0.4041 11.72
16-31195569-C-G FUS ENST00000254108 125P synonymous 1 2637 1.896E-4 11.98
16-31195692-TGGTGGA-T FUS ENST00000254108 GG167-168- inframe deletion 7 2634 0.0013 13.58
16-31196402-T-TGGC FUS ENST00000254108 -222-223G inframe insertion 3 2606 5.756E-4 4.092
16-31196402-TGGC-T FUS ENST00000254108 G223- inframe deletion 1 2606 1.919E-4 8.613
16-31196402-TGGCGGC-T FUS ENST00000254108 GG223-224- inframe deletion 2 2606 3.837E-4 8.47
16-31196402-TGGCGGCGGC-T FUS ENST00000254108 GGG223-225- inframe deletion 2 2606 3.837E-4 8.889
16-31196405-C-T FUS ENST00000254108 223G synonymous 1 2599 1.924E-4 11.95
16-31196409-G-A FUS ENST00000254108 G225S missense 1 2593 1.928E-4 10.75
16-31196414-CGGCGGCGGT-C FUS ENST00000254108 GGG227-229- inframe deletion 3 2586 5.8E-4 18.51
16-31196420-C-CGGT FUS ENST00000254108 -228-229G inframe insertion 1 2583 1.936E-4 -
16-31196420-C-CGGTGGTGGT FUS ENST00000254108 -228-229GGG inframe insertion 3 2583 5.807E-4 11.9
16-31196423-T-C FUS ENST00000254108 229G synonymous 2 2579 3.877E-4 1.099
16-31200517-T-C FUS ENST00000254108 302A synonymous 1 2637 1.896E-4 10.18
16-31201082-C-T FUS ENST00000254108 P345S missense 1 2638 1.895E-4 23.5
16-31201374-C-T FUS ENST00000254108 360S synonymous 1 2619 1.909E-4 19.33
16-31201450-C-A FUS ENST00000254108 386R synonymous 2 2637 3.792E-4 22.1
16-31201719-C-T FUS ENST00000254108 P431L missense; splice region 1 2638 1.895E-4 23.6
16-31202282-A-G FUS ENST00000254108 - split acceptor 1 2638 1.895E-4 19.81
16-31202284-G-A FUS ENST00000254108 G465E missense; splice region 1 2638 1.895E-4 23.1
16-31202343-C-T FUS ENST00000254108 R485W missense 1 2634 1.898E-4 29.2
16-31202354-C-T FUS ENST00000254108 488G synonymous 3 2633 5.697E-4 10.94
16-31202388-G-A FUS ENST00000254108 G500S missense 1 2619 1.909E-4 23.8
16-31202730-A-G FUS ENST00000254108 R518G missense 1 2594 1.928E-4 28.1
16-31202739-C-T FUS ENST00000254108 R521C missense 2 2602 3.843E-4 34.0
16-31202744-G-A FUS ENST00000254108 522R synonymous 7 2616 0.0013 12.46
16-31202755-A-G FUS ENST00000254108 Y526C missense 1 2629 1.902E-4 24.0