Data Browser v2

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


Gene: ATXN2 Variant Count: 44   RVIS Percentile: 8.53975%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
12-111891551-G-A ATXN2 ENST00000377617 1281L synonymous 1 2630 1.901E-4 9.205
12-111891572-G-A ATXN2 ENST00000377617 1274P synonymous 4 2635 7.59E-4 10.73
12-111893869-C-T ATXN2 ENST00000377617 1236A synonymous 19 2638 0.0036 14.77
12-111893872-C-T ATXN2 ENST00000377617 1235P synonymous 1 2638 1.895E-4 14.7
12-111893911-T-C ATXN2 ENST00000377617 1222Q synonymous 1 2638 1.895E-4 0.929
12-111893916-C-G ATXN2 ENST00000475132 A1P initiator codon 1 2638 1.895E-4 25.3
12-111893984-A-G ATXN2 ENST00000377617 L1198P missense 2 2637 3.792E-4 24.1
12-111895079-G-A ATXN2 ENST00000377617 T1152I missense 1 2631 1.9E-4 25.4
12-111895122-C-T ATXN2 ENST00000377617 A1138T missense 1 2632 1.9E-4 24.8
12-111895133-G-A ATXN2 ENST00000377617 A1134V missense 2 2631 3.801E-4 23.8
12-111902514-G-A ATXN2 ENST00000377617 P1108S missense 10 2619 0.0019 18.14
12-111907917-A-G ATXN2 ENST00000377617 M1104T missense 1 2596 1.926E-4 23.8
12-111907943-G-A ATXN2 ENST00000377617 1095Y synonymous 1 2613 1.914E-4 10.39
12-111908447-G-A ATXN2 ENST00000377617 A1033V missense 1 2636 1.897E-4 26.1
12-111908545-T-C ATXN2 ENST00000483311 Y901C missense; splice region 34 2620 0.0065 12.7
12-111923117-T-C ATXN2 ENST00000377617 M986V missense 2 2513 3.979E-4 16.02
12-111923574-C-T ATXN2 ENST00000377617 960Q synonymous 1 2592 1.929E-4 12.92
12-111923594-G-A ATXN2 ENST00000377617 P954S missense 4 2599 7.695E-4 24.0
12-111923648-T-C ATXN2 ENST00000377617 T936A missense 1 2614 1.913E-4 23.5
12-111923670-C-T ATXN2 ENST00000377617 - split acceptor 3 2610 5.747E-4 26.7
12-111926380-G-A ATXN2 ENST00000377617 H874Y missense 1 2608 1.917E-4 14.48
12-111947397-T-C ATXN2 ENST00000377617 R791G missense 1 2594 1.928E-4 24.6
12-111947789-C-G ATXN2 ENST00000377617 R750S missense 2 2413 4.144E-4 23.7
12-111948200-G-A ATXN2 ENST00000377617 P742L missense 1 2632 1.9E-4 25.6
12-111951162-C-G ATXN2 ENST00000377617 679G synonymous; splice region 1 2638 1.895E-4 13.7
12-111951190-C-G ATXN2 ENST00000377617 G670A missense 1 2638 1.895E-4 16.42
12-111951257-C-T ATXN2 ENST00000377617 E648K missense 1 2638 1.895E-4 25.9
12-111954067-T-C ATXN2 ENST00000377617 582T synonymous 1 2625 1.905E-4 0.346
12-111956226-T-C ATXN2 ENST00000377617 N491S missense 15 2633 0.0028 11.41
12-111963101-A-T ATXN2 ENST00000377617 357A synonymous 1 2599 1.924E-4 0.395
12-111993712-C-T ATXN2 ENST00000377617 S248N missense 21 2611 0.004 18.04
12-112036753-G-T ATXN2 ENST00000377617 P189Q missense 1 173 0.0029 0.159
12-112036753-GGCT-G ATXN2 ENST00000377617 QP188-189P inframe deletion 32 41 0.3902 12.61
12-112036767-C-T ATXN2 ENST00000377617 184Q synonymous 2 176 0.0057 4.244
12-112036779-C-T ATXN2 ENST00000377617 180Q synonymous 14 187 0.0374 1.745
12-112036779-CTGT-C ATXN2 ENST00000377617 QQ179-180Q inframe deletion 1 189 0.0026 6.186
12-112036782-T-C ATXN2 ENST00000377617 179Q synonymous 16 189 0.0423 0.002
12-112036785-C-T ATXN2 ENST00000377617 178Q synonymous 1 196 0.0026 4.147
12-112036797-C-T ATXN2 ENST00000377617 174Q synonymous 167 123 0.3211 6.811
12-112036929-G-A ATXN2 ENST00000377617 130R synonymous 52 59 0.4407 11.15
12-112037000-G-C ATXN2 ENST00000377617 L107V missense 33 38 0.4342 10.54
12-112037130-A-G ATXN2 ENST00000377617 63P synonymous 4 7 0.2857 0.311
12-112037144-C-G ATXN2 ENST00000377617 G59R missense 2 5 0.2 11.03
12-112037148-C-G ATXN2 ENST00000377617 57P synonymous 4 7 0.2857 7.243