Data Browser v2

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


Gene: MATR3 Variant Count: 39   RVIS Percentile: 16.36%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
5-138629718-G-T MATR3 ENST00000503811 - splice donor 4 2185 9.153E-4 16.42
5-138643122-G-A MATR3 ENST00000394805 6Q synonymous 1 2477 2.019E-4 0.264
5-138643395-A-G MATR3 ENST00000394805 97L synonymous 2 2619 3.818E-4 1.309
5-138643409-G-A MATR3 ENST00000394805 R102H missense 1 2617 1.911E-4 26.3
5-138643429-A-G MATR3 ENST00000394805 S109G missense 1 2618 1.91E-4 19.68
5-138643448-T-G MATR3 ENST00000394805 F115C missense 1 2614 1.913E-4 25.2
5-138643484-G-A MATR3 ENST00000394805 R127H missense 1 2609 1.916E-4 26.6
5-138643603-C-A MATR3 ENST00000394805 167R synonymous 1 2582 1.936E-4 14.12
5-138643650-G-A MATR3 ENST00000394805 182R synonymous 1 2611 1.915E-4 5.857
5-138643753-A-G MATR3 ENST00000394805 M217V missense 1 2627 1.903E-4 9.752
5-138651419-A-G MATR3 ENST00000394805 336G synonymous 1 2614 1.913E-4 10.93
5-138651864-A-G MATR3 ENST00000394805 372P synonymous 1 2637 1.896E-4 10.21
5-138652742-G-A MATR3 ENST00000394805 G377D missense; splice region 1 2587 1.933E-4 23.5
5-138652744-G-A MATR3 ENST00000394805 A378T missense; splice region 2 2586 3.867E-4 22.8
5-138652782-G-C MATR3 ENST00000394805 Q390H missense 1 2578 1.939E-4 19.23
5-138652792-G-A MATR3 ENST00000394805 V394M missense; splice region 1 2560 1.953E-4 21.2
5-138654707-G-A MATR3 ENST00000394805 473K synonymous 1 2636 1.897E-4 14.39
5-138658291-A-G MATR3 ENST00000394805 R595G missense 1 2586 1.933E-4 22.5
5-138658360-A-C MATR3 ENST00000394805 T618P missense 1 2602 1.922E-4 14.25
5-138658374-C-T MATR3 ENST00000394805 622T synonymous 1 2605 1.919E-4 12.67
5-138658387-C-G MATR3 ENST00000394805 Q627E missense 1 2599 1.924E-4 9.194
5-138658446-G-A MATR3 ENST00000394805 646Q synonymous 1 2629 1.902E-4 8.865
5-138658461-T-C MATR3 ENST00000394805 651L synonymous 1 2631 1.9E-4 0.42
5-138658499-A-C MATR3 ENST00000394805 E664A missense 2 2635 3.795E-4 24.1
5-138658503-A-G MATR3 ENST00000394805 665A synonymous 1 2635 1.898E-4 11.82
5-138658524-C-T MATR3 ENST00000394805 672G synonymous 1 2638 1.895E-4 16.9
5-138661170-G-A MATR3 ENST00000512040 R123H missense 1 2638 1.895E-4 13.65
5-138661214-C-T MATR3 ENST00000394805 A745V missense 2 2638 3.791E-4 21.1
5-138661231-G-A MATR3 ENST00000394805 A751T missense 1 2636 1.897E-4 19.6
5-138661236-T-G MATR3 ENST00000394805 D752E missense 1 2636 1.897E-4 6.466
5-138661268-A-T MATR3 ENST00000394805 D763V missense 1 2635 1.898E-4 19.13
5-138661281-T-A MATR3 ENST00000394805 D767E missense 1 2635 1.898E-4 11.62
5-138661298-A-G MATR3 ENST00000394805 Y773C missense 1 2630 1.901E-4 16.85
5-138661317-T-C MATR3 ENST00000512040 I172T missense 1 2619 1.909E-4 0.971
5-138661340-A-G MATR3 ENST00000394805 N787S missense 1 2610 1.916E-4 13.35
5-138661348-G-T MATR3 ENST00000394805 V790F missense 1 2605 1.919E-4 27.0
5-138665044-A-G MATR3 ENST00000394805 N835S missense 1 2355 2.123E-4 12.04
5-138665061-C-T MATR3 ENST00000394805 R841C missense 1 2397 2.086E-4 23.1
5-138665078-A-G MATR3 ENST00000394805 846E synonymous 1 2421 2.065E-4 0.511