Data Browser v3

Examples - Region: 21:33032075-33040899, Gene: TBK1, Variant: 14-20215709-A-T

Query: SPG11 Variant Count: 166

Variant Effect Allele Count Sample Count Hom Count Heteroz Count Hom Ref Count AF
15-44855324-C-T NON_SYNONYMOUS_CODING 1 3304 0 1 3303 1.513E-4
15-44855395-T-C NON_SYNONYMOUS_CODING 5 3312 0 5 3307 7.548E-4
15-44855454-C-T UTR_3_PRIME 92 3315 0 92 3223 0.0139
15-44855501-T-C SPLICE_SITE_ACCEPTOR 2 3303 0 2 3301 3.028E-4
15-44856764-A-G NON_SYNONYMOUS_CODING 1 3310 0 1 3309 1.511E-4
15-44856827-G-A NON_SYNONYMOUS_CODING 12 3309 0 12 3297 0.0018
15-44856873-G-A SYNONYMOUS_CODING 172 3297 2 168 3127 0.0261
15-44856890-T-C NON_SYNONYMOUS_CODING 1 3281 0 1 3280 1.524E-4
15-44858063-G-A NON_SYNONYMOUS_CODING 1 3283 0 1 3282 1.523E-4
15-44858107-T-G NON_SYNONYMOUS_CODING 1 3260 0 1 3259 1.534E-4
15-44858116-A-C NON_SYNONYMOUS_CODING 1 3263 0 1 3262 1.532E-4
15-44858117-T-C NON_SYNONYMOUS_CODING 1 3264 0 1 3263 1.532E-4
15-44858164-TTGG-T CODON_CHANGE_PLUS_CODON_DELETION 1 3292 0 1 3291 1.519E-4
15-44858173-C-T NON_SYNONYMOUS_CODING 1 3293 0 1 3292 1.518E-4
15-44858184-C-CTGG CODON_CHANGE_PLUS_CODON_INSERTION 1 3289 0 1 3288 1.52E-4
15-44858184-C-G NON_SYNONYMOUS_CODING 1 3289 0 1 3288 1.52E-4
15-44858195-G-A STOP_GAINED 1 3294 0 1 3293 1.518E-4
15-44858472-T-C SYNONYMOUS_CODING 1 3291 0 1 3290 1.519E-4
15-44858492-T-G NON_SYNONYMOUS_CODING 1 3285 0 1 3284 1.522E-4
15-44859637-C-CA FRAME_SHIFT 2 3316 0 2 3314 3.016E-4
15-44859664-C-T NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44859720-T-C NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44859744-C-T NON_SYNONYMOUS_CODING 3 3315 0 3 3312 4.525E-4
15-44859751-G-A NON_SYNONYMOUS_CODING 1 3315 0 1 3314 1.508E-4
15-44861655-A-G NON_SYNONYMOUS_CODING 1 3266 0 1 3265 1.531E-4
15-44862794-T-C NON_SYNONYMOUS_CODING 2 3290 0 2 3288 3.04E-4
15-44864894-C-T SYNONYMOUS_CODING 31 3317 0 31 3286 0.0047
15-44864905-C-T NON_SYNONYMOUS_CODING 3 3317 0 3 3314 4.522E-4
15-44864966-C-A SYNONYMOUS_CODING 57 3317 0 57 3260 0.0086
15-44865000-T-C NON_SYNONYMOUS_CODING 41 3317 1 39 3277 0.0062
15-44865777-G-A NON_SYNONYMOUS_CODING 1 3314 0 1 3313 1.509E-4
15-44865859-G-A STOP_GAINED 2 3299 1 0 3298 3.031E-4
15-44865859-G-C NON_SYNONYMOUS_CODING 1 3299 0 1 3298 1.516E-4
15-44865907-C-T NON_SYNONYMOUS_CODING 1 3287 0 1 3286 1.521E-4
15-44865940-A-C NON_SYNONYMOUS_CODING 2 3242 0 2 3240 3.085E-4
15-44867131-C-T NON_SYNONYMOUS_CODING 1 3193 0 1 3192 1.566E-4
15-44867140-T-C NON_SYNONYMOUS_CODING 1 3189 0 1 3188 1.568E-4
15-44876018-G-A NON_SYNONYMOUS_CODING 2 3312 0 2 3310 3.019E-4
15-44876060-G-A SYNONYMOUS_CODING 1 3308 0 1 3307 1.511E-4
15-44876082-A-G SYNONYMOUS_CODING 3 3309 0 3 3306 4.533E-4
15-44876085-G-C NON_SYNONYMOUS_CODING 1 3311 0 1 3310 1.51E-4
15-44876125-G-T NON_SYNONYMOUS_CODING 2 3312 0 2 3310 3.019E-4
15-44876182-C-T NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44876255-G-A STOP_GAINED 1 3314 0 1 3313 1.509E-4
15-44876265-A-G SYNONYMOUS_CODING 2 3312 0 2 3310 3.019E-4
15-44876270-A-G SYNONYMOUS_CODING 1 3312 0 1 3311 1.51E-4
15-44876281-C-T NON_SYNONYMOUS_CODING 1 3307 0 1 3306 1.512E-4
15-44876299-A-G NON_SYNONYMOUS_CODING 1 3306 0 1 3305 1.512E-4
15-44876314-A-G NON_SYNONYMOUS_CODING 1 3304 0 1 3303 1.513E-4
15-44876381-A-C NON_SYNONYMOUS_CODING 1 3310 0 1 3309 1.511E-4
15-44876408-G-A STOP_GAINED 1 3305 0 1 3304 1.513E-4
15-44876471-G-A SYNONYMOUS_CODING 1 3265 0 1 3264 1.531E-4
15-44876497-A-G NON_SYNONYMOUS_CODING 2 3235 0 2 3233 3.091E-4
15-44876563-C-T NON_SYNONYMOUS_CODING 1 3245 0 1 3244 1.541E-4
15-44876628-GGAA-G CODON_CHANGE_PLUS_CODON_DELETION 1 3293 0 1 3292 1.518E-4
15-44876689-A-C NON_SYNONYMOUS_CODING 1 3288 0 1 3287 1.521E-4
15-44876728-T-C NON_SYNONYMOUS_CODING 1 3213 0 1 3212 1.556E-4
15-44877834-C-A NON_SYNONYMOUS_CODING 8 3127 0 8 3119 0.0013
15-44877867-A-C SYNONYMOUS_CODING 1 3292 0 1 3291 1.519E-4
15-44877897-G-A SYNONYMOUS_CODING 1 3312 0 1 3311 1.51E-4
15-44878032-C-G NON_SYNONYMOUS_CODING 1 3276 0 1 3275 1.526E-4
15-44881546-A-G NON_SYNONYMOUS_CODING 4 3282 0 4 3278 6.094E-4
15-44884585-T-C NON_SYNONYMOUS_CODING 4 3300 0 4 3296 6.061E-4
15-44887503-C-G NON_SYNONYMOUS_CODING 1 3314 0 1 3313 1.509E-4
15-44887514-T-C SYNONYMOUS_CODING 3 3316 0 3 3313 4.524E-4
15-44887602-T-C NON_SYNONYMOUS_CODING 1 3314 0 1 3313 1.509E-4
15-44888280-C-T SPLICE_SITE_DONOR 1 3263 0 1 3262 1.532E-4
15-44888305-G-A SYNONYMOUS_CODING 1 3275 0 1 3274 1.527E-4
15-44888344-C-G NON_SYNONYMOUS_CODING 1 3289 0 1 3288 1.52E-4
15-44888350-C-G NON_SYNONYMOUS_CODING 1 3292 0 1 3291 1.519E-4
15-44888393-A-G NON_SYNONYMOUS_CODING 1 3303 0 1 3302 1.514E-4
15-44888455-G-A SYNONYMOUS_CODING 1 3300 0 1 3299 1.515E-4
15-44888502-GC-G FRAME_SHIFT 1 3289 0 1 3288 1.52E-4
15-44889033-AT-A FRAME_SHIFT 1 3316 0 1 3315 1.508E-4
15-44889036-A-T NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44889071-T-C NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44889073-A-G NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44889117-T-C SYNONYMOUS_CODING 12 3293 0 12 3281 0.0018
15-44889125-T-C NON_SYNONYMOUS_CODING 1 3284 0 1 3283 1.523E-4
15-44890476-G-C NON_SYNONYMOUS_CODING 2 3317 0 2 3315 3.015E-4
15-44890903-T-C NON_SYNONYMOUS_CODING 14 3270 0 14 3256 0.0021
15-44890978-G-A NON_SYNONYMOUS_CODING 1 3282 0 1 3281 1.523E-4
15-44891006-C-G NON_SYNONYMOUS_CODING 1 3261 0 1 3260 1.533E-4
15-44892667-C-G NON_SYNONYMOUS_CODING 1 3303 0 1 3302 1.514E-4
15-44892780-A-T NON_SYNONYMOUS_CODING 1 3305 0 1 3304 1.513E-4
15-44898257-A-G SYNONYMOUS_CODING 2 3313 0 2 3311 3.018E-4
15-44900655-T-C NON_SYNONYMOUS_CODING 1 3314 0 1 3313 1.509E-4
15-44900659-T-C NON_SYNONYMOUS_CODING 1 3317 0 1 3316 1.507E-4
15-44900670-G-C NON_SYNONYMOUS_CODING 2 3317 0 2 3315 3.015E-4
15-44900675-C-T SYNONYMOUS_CODING 312 3316 5 302 3009 0.047
15-44900718-A-G NON_SYNONYMOUS_CODING 1 3317 0 1 3316 1.507E-4
15-44900730-G-A NON_SYNONYMOUS_CODING 1 3317 0 1 3316 1.507E-4
15-44903115-C-CAGGG FRAME_SHIFT 1 3300 0 1 3299 1.515E-4
15-44907562-T-C NON_SYNONYMOUS_CODING 86 3258 2 82 3174 0.0132
15-44907597-A-C NON_SYNONYMOUS_CODING 1 3282 0 1 3281 1.523E-4
15-44907605-C-T UTR_3_PRIME 1 3289 0 1 3288 1.52E-4
15-44907615-T-C NON_SYNONYMOUS_CODING 1 3293 0 1 3292 1.518E-4
15-44907631-A-G NON_SYNONYMOUS_CODING 1 3294 0 1 3293 1.518E-4
15-44907696-C-G NON_SYNONYMOUS_CODING 1 3297 0 1 3296 1.517E-4
15-44907712-T-G UTR_3_PRIME 9 3292 0 9 3283 0.0014
15-44907719-G-A UTR_3_PRIME 1 3286 0 1 3285 1.522E-4
15-44912387-C-A SPLICE_SITE_DONOR 1 3312 0 1 3311 1.51E-4
15-44912483-C-G NON_SYNONYMOUS_CODING 1 3314 0 1 3313 1.509E-4
15-44912553-C-T NON_SYNONYMOUS_CODING 1 3311 0 1 3310 1.51E-4
15-44912566-A-G NON_SYNONYMOUS_CODING 2 3309 0 2 3307 3.022E-4
15-44912586-G-A NON_SYNONYMOUS_CODING 1 3306 0 1 3305 1.512E-4
15-44914016-G-A NON_SYNONYMOUS_CODING 1 3289 0 1 3288 1.52E-4
15-44914071-A-G NON_SYNONYMOUS_CODING 1 3272 0 1 3271 1.528E-4
15-44914431-G-A STOP_GAINED 2 3302 0 2 3300 3.028E-4
15-44914483-C-T SYNONYMOUS_CODING 1 3295 0 1 3294 1.517E-4
15-44914544-A-C NON_SYNONYMOUS_CODING 2 3266 0 2 3264 3.062E-4
15-44914962-G-A SYNONYMOUS_CODING 1 3280 0 1 3279 1.524E-4
15-44918573-T-C NON_SYNONYMOUS_CODING 1 3303 0 1 3302 1.514E-4
15-44918604-G-A SYNONYMOUS_CODING 1 3301 0 1 3300 1.515E-4
15-44918690-C-T NON_SYNONYMOUS_CODING 83 3222 1 81 3140 0.0129
15-44918691-G-A SYNONYMOUS_CODING 1 3222 0 1 3221 1.552E-4
15-44918693-T-G NON_SYNONYMOUS_CODING 1 3219 0 1 3218 1.553E-4
15-44918700-A-C SYNONYMOUS_CODING 1 3198 0 1 3197 1.563E-4
15-44920868-T-C NON_SYNONYMOUS_CODING 1 3302 0 1 3301 1.514E-4
15-44920931-T-C NON_SYNONYMOUS_CODING 1 3297 0 1 3296 1.517E-4
15-44920983-G-A STOP_GAINED 1 3278 0 1 3277 1.525E-4
15-44921581-C-T NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44925740-A-C NON_SYNONYMOUS_CODING 114 3315 1 112 3202 0.0172
15-44925748-C-T NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44925817-G-A STOP_GAINED 1 3316 0 1 3315 1.508E-4
15-44925833-G-A SYNONYMOUS_CODING 4 3314 0 4 3310 6.035E-4
15-44941203-C-A NON_SYNONYMOUS_CODING 1 3250 0 1 3249 1.538E-4
15-44943757-A-G NON_SYNONYMOUS_CODING 2950 3313 687 1576 1050 0.4452
15-44943797-T-C NON_SYNONYMOUS_CODING 31 3317 0 31 3286 0.0047
15-44943798-G-A SYNONYMOUS_CODING 31 3317 0 31 3286 0.0047
15-44943816-C-A SYNONYMOUS_CODING 1 3317 0 1 3316 1.507E-4
15-44943857-C-A NON_SYNONYMOUS_CODING 1 3317 0 1 3316 1.507E-4
15-44943903-T-G NON_SYNONYMOUS_CODING 1 3317 0 1 3316 1.507E-4
15-44944014-G-A SYNONYMOUS_CODING 2 3236 0 2 3234 3.09E-4
15-44944041-A-T NON_SYNONYMOUS_CODING 1 3152 0 1 3151 1.586E-4
15-44944042-T-C NON_SYNONYMOUS_CODING 2 3143 0 2 3141 3.182E-4
15-44944060-C-T STOP_GAINED 2 3025 0 2 3023 3.306E-4
15-44944333-A-G NON_SYNONYMOUS_CODING 1 3313 0 1 3312 1.509E-4
15-44944355-G-C NON_SYNONYMOUS_CODING 2 3314 0 2 3312 3.018E-4
15-44944398-G-A SYNONYMOUS_CODING 1 3315 0 1 3314 1.508E-4
15-44944440-A-G SYNONYMOUS_CODING 1 3294 0 1 3293 1.518E-4
15-44949321-C-A NON_SYNONYMOUS_CODING 1 3315 0 1 3314 1.508E-4
15-44949329-T-A NON_SYNONYMOUS_CODING 2 3316 0 2 3314 3.016E-4
15-44949342-C-T NON_SYNONYMOUS_CODING 1 3315 0 1 3314 1.508E-4
15-44949354-C-T NON_SYNONYMOUS_CODING 62 3314 0 62 3252 0.0094
15-44949400-G-C SYNONYMOUS_CODING 1 3314 0 1 3313 1.509E-4
15-44949423-T-C NON_SYNONYMOUS_CODING 1 3315 0 1 3314 1.508E-4
15-44949427-CAT-C FRAME_SHIFT 1 3315 0 1 3314 1.508E-4
15-44951340-T-C NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44951453-G-A NON_SYNONYMOUS_CODING 6 3316 0 6 3310 9.047E-4
15-44952663-C-A NON_SYNONYMOUS_CODING 1 3315 0 1 3314 1.508E-4
15-44952677-C-T NON_SYNONYMOUS_CODING 2 3317 0 2 3315 3.015E-4
15-44952711-T-G NON_SYNONYMOUS_CODING 2 3317 0 2 3315 3.015E-4
15-44952744-T-C NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
15-44952794-C-T NON_SYNONYMOUS_CODING 1 3317 0 1 3316 1.507E-4
15-44952804-C-A STOP_GAINED 1 3316 0 1 3315 1.508E-4
15-44955653-C-T NON_SYNONYMOUS_CODING 1 3058 0 1 3057 1.635E-4
15-44955660-G-A SYNONYMOUS_CODING 1 3005 0 1 3004 1.664E-4
15-44955696-C-G NON_SYNONYMOUS_CODING 1 2705 0 1 2704 1.848E-4
15-44955740-C-T NON_SYNONYMOUS_CODING 1 2368 0 1 2367 2.111E-4
15-44955762-C-A NON_SYNONYMOUS_CODING 1 2159 0 1 2158 2.316E-4
15-44955764-T-C NON_SYNONYMOUS_CODING 1 2140 0 1 2139 2.336E-4
15-44955766-G-A NON_SYNONYMOUS_CODING 1 2113 0 1 2112 2.366E-4
15-44955782-T-C NON_SYNONYMOUS_CODING 1 1994 0 1 1993 2.508E-4
15-44955810-G-A SYNONYMOUS_CODING 1 1742 0 1 1741 2.87E-4
15-44955818-C-T NON_SYNONYMOUS_CODING 1 1681 0 1 1680 2.974E-4