Data Browser v2

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


Gene: SCAF4 Variant Count: 53   RVIS Percentile: 5.67941%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
21-33043712-C-CT SCAF4 ENST00000286835 1148 frameshift 1 2629 1.902E-4 -
21-33043730-T-G SCAF4 ENST00000286835 1142A synonymous 1 2636 1.897E-4 6.127
21-33043879-C-G SCAF4 ENST00000286835 V1093L missense 1 2621 1.908E-4 0.008
21-33043950-C-T SCAF4 ENST00000286835 R1069H missense 1 2592 1.929E-4 25.4
21-33043955-C-T SCAF4 ENST00000286835 1067E synonymous 1 2594 1.928E-4 11.68
21-33043978-C-G SCAF4 ENST00000286835 E1060Q missense 1 2621 1.908E-4 20.2
21-33044002-G-T SCAF4 ENST00000286835 R1052S missense 1 2633 1.899E-4 23.1
21-33044073-C-T SCAF4 ENST00000286835 R1028H missense 1 2638 1.895E-4 26.6
21-33044133-C-A SCAF4 ENST00000286835 R1008M missense 1 2638 1.895E-4 24.8
21-33044256-G-GGCT SCAF4 ENST00000286835 P967QP inframe insertion 1 2620 1.908E-4 0.0
21-33044256-GGCT-G SCAF4 ENST00000286835 QP966-967P inframe deletion 21 2619 0.004 10.46
21-33044256-GGCTGCT-G SCAF4 ENST00000286835 QQP965-967P inframe deletion 1 2620 1.908E-4 13.29
21-33044276-CTGT-C SCAF4 ENST00000286835 PQ959-960P inframe deletion 2 2612 3.828E-4 0.039
21-33044298-GGCTGTGGCTGCT-G SCAF4 ENST00000286835 QQPQP949-953P inframe deletion 2 2601 3.845E-4 0.203
21-33044315-TGGCTGCTGC-T SCAF4 ENST00000286835 PQQP944-947P inframe deletion 1 2588 1.932E-4 4.378
21-33044327-C-T SCAF4 ENST00000286835 943P synonymous 1 2571 1.945E-4 4.511
21-33044378-G-A SCAF4 ENST00000286835 926G synonymous 133 2602 0.0256 6.557
21-33044408-A-G SCAF4 ENST00000286835 916V synonymous 238 2608 0.0456 0.879
21-33044603-G-A SCAF4 ENST00000286835 851G synonymous 1 945 5.291E-4 8.075
21-33057406-G-A SCAF4 ENST00000286835 T815M missense 1 2627 1.903E-4 22.5
21-33057406-G-C SCAF4 ENST00000286835 T815R missense 1 2627 1.903E-4 20.0
21-33057420-T-C SCAF4 ENST00000286835 810P synonymous 1 2626 1.904E-4 3.089
21-33057720-T-G SCAF4 ENST00000286835 I763L missense 12 2553 0.0024 21.6
21-33057984-A-C SCAF4 ENST00000286835 702P synonymous 2 2479 4.034E-4 0.002
21-33060640-T-C SCAF4 ENST00000286835 I675V missense 1 2638 1.895E-4 12.44
21-33060667-C-T SCAF4 ENST00000286835 V666I missense 2 2638 3.791E-4 22.8
21-33060689-T-C SCAF4 ENST00000286835 I658M missense 1 2638 1.895E-4 15.08
21-33060709-T-C SCAF4 ENST00000286835 T652A missense 1 2636 1.897E-4 11.26
21-33060747-T-C SCAF4 ENST00000286835 N639S missense 1 2632 1.9E-4 13.6
21-33063127-C-T SCAF4 ENST00000286835 S623N missense 1 2632 1.9E-4 14.45
21-33063186-T-C SCAF4 ENST00000286835 603P synonymous 1 2635 1.898E-4 5.768
21-33063223-T-C SCAF4 ENST00000286835 Q591R missense 1 2631 1.9E-4 23.8
21-33063237-C-T SCAF4 ENST00000286835 586K synonymous 1 2629 1.902E-4 15.06
21-33064135-T-C SCAF4 ENST00000286835 I575V missense 3 2636 5.69E-4 23.6
21-33064167-C-T SCAF4 ENST00000286835 S564N missense 1 2637 1.896E-4 29.7
21-33065678-C-G SCAF4 ENST00000286835 R481T missense 1 2636 1.897E-4 23.4
21-33065686-A-G SCAF4 ENST00000286835 478S synonymous 3 2636 5.69E-4 11.49
21-33066584-G-A SCAF4 ENST00000286835 P419S missense 1 2434 2.054E-4 22.6
21-33068472-A-G SCAF4 ENST00000286835 F341S missense 1 2616 1.911E-4 31.0
21-33068473-A-G SCAF4 ENST00000286835 F341L missense 17 2614 0.0033 29.7
21-33068901-G-A SCAF4 ENST00000286835 P314S missense 1 2637 1.896E-4 9.871
21-33068916-C-T SCAF4 ENST00000286835 A309T missense 2 2637 3.792E-4 4.842
21-33068917-G-C SCAF4 ENST00000286835 308P synonymous 1 2637 1.896E-4 12.36
21-33068937-C-A SCAF4 ENST00000286835 V302L missense 383 2620 0.0731 2.935
21-33068962-T-C SCAF4 ENST00000286835 293A synonymous 953 2551 0.1868 4.808
21-33068965-G-A SCAF4 ENST00000286835 292A synonymous 19 2638 0.0036 12.89
21-33068989-G-A SCAF4 ENST00000286835 284A synonymous 1 2637 1.896E-4 13.71
21-33073436-G-C SCAF4 ENST00000286835 P217A missense 1 2638 1.895E-4 17.95
21-33074163-C-T SCAF4 ENST00000286835 A176T missense 1 2636 1.897E-4 0.008
21-33074187-G-T SCAF4 ENST00000286835 Q168K missense 1 2596 1.926E-4 19.03
21-33074577-T-C SCAF4 ENST00000286835 E146G missense 1 2597 1.925E-4 18.29
21-33074633-A-G SCAF4 ENST00000286835 127I synonymous 200 2605 0.0384 6.332
21-33074666-A-C SCAF4 ENST00000286835 116L synonymous 1 2599 1.924E-4 0.614