Data Browser v3

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

Query: NEFH Variant Count: 54

Variant Effect Allele Count Sample Count Hom Count Heteroz Count Hom Ref Count AF
22-29876520-C-T NON_SYNONYMOUS_CODING 1 874 0 1 873 5.721E-4
22-29876522-G-C NON_SYNONYMOUS_CODING 1 872 0 1 871 5.734E-4
22-29876538-G-T NON_SYNONYMOUS_CODING 1 905 0 1 904 5.525E-4
22-29876938-C-T SYNONYMOUS_CODING 1 597 0 1 596 8.375E-4
22-29876996-G-A NON_SYNONYMOUS_CODING 1 598 0 1 597 8.361E-4
22-29877033-A-G NON_SYNONYMOUS_CODING 1 610 0 1 609 8.197E-4
22-29879414-C-T NON_SYNONYMOUS_CODING 1 3283 0 1 3282 1.523E-4
22-29879490-G-T NON_SYNONYMOUS_CODING 1 3309 0 1 3308 1.511E-4
22-29879516-C-T NON_SYNONYMOUS_CODING 1 3301 0 1 3300 1.515E-4
22-29879518-C-G SYNONYMOUS_CODING 1 3300 0 1 3299 1.515E-4
22-29879527-G-T SYNONYMOUS_CODING 1 3296 0 1 3295 1.517E-4
22-29879534-C-A NON_SYNONYMOUS_CODING 22 3291 0 22 3269 0.0033
22-29879534-C-T NON_SYNONYMOUS_CODING 1 3291 0 1 3290 1.519E-4
22-29879535-G-A NON_SYNONYMOUS_CODING 1 3289 0 1 3288 1.52E-4
22-29879545-C-T SYNONYMOUS_CODING 1 3268 0 1 3267 1.53E-4
22-29879546-G-A NON_SYNONYMOUS_CODING 1 3264 0 1 3263 1.532E-4
22-29879559-A-G NON_SYNONYMOUS_CODING 3 3230 0 3 3227 4.644E-4
22-29881797-A-C NON_SYNONYMOUS_CODING 6 3316 0 6 3310 9.047E-4
22-29881810-T-G SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
22-29881828-C-T SYNONYMOUS_CODING 977 3314 66 845 2403 0.1474
22-29884942-T-G NON_SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
22-29885016-G-A NON_SYNONYMOUS_CODING 640 3306 31 578 2697 0.0968
22-29885075-G-A SYNONYMOUS_CODING 8 3241 0 8 3233 0.0012
22-29885092-G-T NON_SYNONYMOUS_CODING 1 3226 0 1 3225 1.55E-4
22-29885094-G-A NON_SYNONYMOUS_CODING 1 3225 0 1 3224 1.55E-4
22-29885095-G-C NON_SYNONYMOUS_CODING 1 3224 0 1 3223 1.551E-4
22-29885127-G-GAAACAA CODON_INSERTION 1 3182 0 1 3181 1.571E-4
22-29885143-C-T NON_SYNONYMOUS_CODING 1 3177 0 1 3176 1.574E-4
22-29885159-A-T SYNONYMOUS_CODING 1 3188 0 1 3187 1.568E-4
22-29885199-G-A NON_SYNONYMOUS_CODING 1 3236 0 1 3235 1.545E-4
22-29885204-G-C NON_SYNONYMOUS_CODING 6 3239 0 6 3233 9.262E-4
22-29885216-G-A SYNONYMOUS_CODING 1 3245 0 1 3244 1.541E-4
22-29885278-C-G NON_SYNONYMOUS_CODING 1 3264 0 1 3263 1.532E-4
22-29885352-C-T NON_SYNONYMOUS_CODING 7 3309 0 7 3302 0.0011
22-29885368-C-T NON_SYNONYMOUS_CODING 1 3312 0 1 3311 1.51E-4
22-29885369-C-T SYNONYMOUS_CODING 93 3312 1 91 3220 0.014
22-29885412-C-T NON_SYNONYMOUS_CODING 7 3311 0 7 3304 0.0011
22-29885420-G-A SYNONYMOUS_CODING 1 3313 0 1 3312 1.509E-4
22-29885711-C-T SYNONYMOUS_CODING 1 3316 0 1 3315 1.508E-4
22-29885805-G-C NON_SYNONYMOUS_CODING 2 3316 0 2 3314 3.016E-4
22-29885939-G-A SYNONYMOUS_CODING 1 3307 0 1 3306 1.512E-4
22-29885974-C-T NON_SYNONYMOUS_CODING 1 3303 0 1 3302 1.514E-4
22-29885996-CAAG-C CODON_DELETION 6 3304 0 6 3298 9.08E-4
22-29886043-A-C NON_SYNONYMOUS_CODING 985 3310 66 853 2391 0.1488
22-29886069-A-G NON_SYNONYMOUS_CODING 1 3312 0 1 3311 1.51E-4
22-29886140-G-A SYNONYMOUS_CODING 1 3268 0 1 3267 1.53E-4
22-29886230-G-T NON_SYNONYMOUS_CODING 1 3144 0 1 3143 1.59E-4
22-29886237-C-T NON_SYNONYMOUS_CODING 1 3120 0 1 3119 1.603E-4
22-29886250-TGGA-T CODON_DELETION 1 3089 0 1 3088 1.619E-4
22-29886341-C-T SYNONYMOUS_CODING 3 3082 0 3 3079 4.867E-4
22-29886386-C-T SYNONYMOUS_CODING 37 3208 0 37 3171 0.0058
22-29886411-G-T NON_SYNONYMOUS_CODING 1 3261 0 1 3260 1.533E-4
22-29886611-T-TG FRAME_SHIFT 1 3234 0 1 3233 1.546E-4
22-29886617-A-G SYNONYMOUS_CODING 1 3243 0 1 3242 1.542E-4