1 469 SO:0001483 2 470 SNV 3 471 SNP 4 469 SO:1000002 5 470 substitution 6 469 SO:0001019 7 470 copy_number_variation 8 471 CNV 9 469 SO:0000667 10 470 insertion 11 469 SO:0000159 12 470 deletion 13 469 SO:1000032 14 470 indel 15 469 SO:0000705 16 470 tandem_repeat 17 469 SO:0001059 18 470 sequence_alteration 19 469 SO:0001628 20 470 intergenic_variant 21 471 INTERGENIC 24 471 UPSTREAM 27 471 DOWNSTREAM 32 469 SO:0001575 33 470 splice_donor_variant 34 471 ESSENTIAL_SPLICE_SITE 36 470 splice_acceptor_variant 37 469 SO:0001630 38 470 splice_region_variant 39 471 SPLICE_SITE 40 469 SO:0001627 41 470 intron_variant 42 471 INTRONIC 43 469 SO:0001623 44 470 5_prime_UTR_variant 45 471 5PRIME_UTR 46 469 SO:0001624 47 470 3_prime_UTR_variant 48 471 3PRIME_UTR 54 471 SYNONYMOUS_CODING 55 469 SO:0001583 57 471 NON_SYNONYMOUS_CODING 62 469 SO:0001587 63 470 stop_gained 64 471 STOP_GAINED 65 469 SO:0001578 66 470 stop_lost 67 471 STOP_LOST 68 469 SO:0001567 69 470 stop_retained_variant 70 469 SO:0002012 72 469 SO:0001589 73 470 frameshift_variant 74 471 FRAMESHIFT_CODING 75 469 SO:0001626 76 470 incomplete_terminal_codon_variant 77 471 PARTIAL_CODON 78 469 SO:0001621 79 470 NMD_transcript_variant 80 471 NMD_TRANSCRIPT 81 469 SO:0001619 82 470 non_coding_transcript_variant 83 471 WITHIN_NON_CODING_GENE 84 469 SO:0001620 85 470 mature_miRNA_variant 86 471 WITHIN_MATURE_miRNA 87 469 SO:0001580 88 470 coding_sequence_variant 89 471 CODING_UNKNOWN 90 469 SO:0001566 91 470 regulatory_region_variant 92 471 REGULATORY_REGION 97 469 SO:0000234 98 470 mRNA 99 469 SO:0000673 100 470 transcript 101 469 SO:0000185 102 470 primary_transcript 103 469 SO:0000655 104 470 ncRNA 105 469 SO:0000276 106 470 miRNA 107 469 SO:0005836 108 470 regulatory_region 109 469 SO:0000409 110 470 binding_site 111 470 structural_variant 112 469 SO:0001537 113 471 SV 114 470 probe 115 469 SO:0000051 116 471 CNV_PROBE 118 473 transcript 119 474 20 120 474 21 122 474 18 124 474 19 125 472 splice-5 126 473 primary_transcript 127 474 1 128 472 splice-3 129 469 SO:0001574 130 474 8 131 472 intron 132 474 15 133 472 untranslated_5 134 473 mRNA 135 474 13 136 472 untranslated_3 137 474 14 138 474 5 139 472 cds-synon 140 474 10 141 472 missense 142 474 7 143 474 6 144 472 nonsense 145 474 3 146 474 4 147 472 frameshift 149 474 16 150 473 ncRNA 151 474 17 152 473 miRNA 153 474 12 154 474 11 155 473 regulatory_region 157 473 TF_binding_site 158 469 SO:0001782 159 470 TF_binding_site_variant 176 477 hapmap 177 477 ind_venter 178 477 ind_watson 179 477 fail_all 180 477 fail_nonref 181 477 fail_ambig 182 477 fail_gt_fq 183 477 fail_incons_map 184 477 fail_mult_map 185 477 fail_no_alleles 186 477 fail_no_gt 187 477 fail_no_map 188 477 fail_no_seq 189 477 fail_non_nt 190 477 fail_mult_alleles 191 477 ph_hgmd_pub 193 477 ph_nhgri 194 477 ph_omim 195 477 ph_variants 196 477 ph_uniprot 197 477 ph_cosmic 198 477 ph_ega 200 470 copy_number_gain 201 469 SO:0001742 202 471 Gain 203 470 copy_number_loss 204 469 SO:0001743 205 471 Loss 206 470 inversion 207 469 SO:1000036 208 470 complex_structural_alteration 209 469 SO:0001784 210 471 Complex 211 470 tandem_duplication 212 469 SO:1000173 213 471 Tandem duplication 214 477 fail_dbsnp_suspect 215 478 unknown 216 478 untested 217 478 non-pathogenic 218 478 probable-non-pathogenic 219 478 probable-pathogenic 220 478 pathogenic 221 478 drug-response 222 478 histocompatibility 223 478 other 224 479 Not tested 225 479 Benign 226 479 Pathogenic 227 479 Uncertain Significance 228 479 likely benign 229 479 likely pathogenic 242 470 mobile_element_insertion 243 469 SO:0001837 244 471 Mobile element insertion 245 477 PorcineSNP60 253 470 duplication 254 469 SO:1000035 255 470 sequence_feature 256 469 SO:0000110 257 477 hapmap_ceu 258 477 hapmap_hcb 259 477 hapmap_jpt 260 477 hapmap_yri 261 474 26 262 474 22 263 474 23 265 474 25 266 474 24 267 481 sift 268 481 polyphen_humvar 269 481 polyphen_humdiv 270 476 tolerated 271 476 deleterious 272 475 probably damaging 273 475 possibly damaging 274 475 benign 275 475 unknown 286 470 interchromosomal_breakpoint 287 469 SO:0001873 288 471 Interchromosomal breakpoint 289 470 intrachromosomal_breakpoint 290 469 SO:0001874 291 471 Intrachromosomal breakpoint 292 470 translocation 293 469 SO:0000199 294 474 38 295 469 SO:0001631 296 470 upstream_gene_variant 297 469 SO:0001632 298 470 downstream_gene_variant 299 469 SO:0001819 300 470 synonymous_variant 301 470 missense_variant 302 469 SO:0001821 303 470 inframe_insertion 304 469 SO:0001822 305 470 inframe_deletion 306 470 start_lost 307 469 SO:0001792 308 470 non_coding_transcript_exon_variant 309 474 36 310 474 30 311 469 SO:0001893 312 470 transcript_ablation 313 469 SO:0001889 314 470 transcript_amplification 315 469 SO:0001895 316 470 TFBS_ablation 317 469 SO:0001892 318 470 TFBS_amplification 319 474 28 320 469 SO:0001894 321 470 regulatory_region_ablation 322 474 31 323 469 SO:0001891 324 470 regulatory_region_amplification 325 474 33 326 469 SO:0001907 327 470 feature_elongation 328 469 SO:0001906 329 470 feature_truncation 330 474 37 331 471 Duplication 332 477 Affy_500K 333 477 Affy_SNP6 334 477 Illumina_660Q 335 477 Illumina_1M-duo 337 477 Cardio-Metabo_Chip 338 477 HumanOmni1-Quad 339 477 Illumina_CytoSNP12v1 340 477 HumanHap650Y 341 477 HumanOmni2.5 342 477 Human610_Quad 343 477 HumanHap550 344 477 esp_6500 345 477 clin_assoc 346 473 sequence_feature 348 477 Chicken600K 349 477 EquineSNP50 350 477 BovineHD 351 477 BovineLD 352 477 BovineSNP50 353 477 MGP 354 477 HumanOmni5 355 477 phencode 356 477 OvineSNP50 357 477 OvineHDSNP 358 477 ExomeChip 359 477 ImmunoChip 360 477 all_chips 361 470 novel_sequence_insertion 362 469 SO:0001838 363 471 Novel sequence insertion 364 479 not provided 365 479 association 366 479 risk factor 367 497 Multiple_observations 368 497 Frequency 369 497 HapMap 370 497 1000Genomes 371 497 Cited 372 497 ESP 373 477 HumanOmniExpress 374 477 ClinVar 375 470 genetic_marker 376 469 SO:0001645 377 480 uncertain significance 378 480 not provided 379 480 benign 380 480 likely benign 381 480 likely pathogenic 382 480 pathogenic 383 480 drug response 384 480 histocompatibility 385 480 other 386 480 confers sensitivity 387 480 risk factor 388 480 association 389 480 protective 390 477 HumanCoreExome 391 476 tolerated - low confidence 392 476 deleterious - low confidence 395 477 LSDB 396 477 dbPEX 397 477 HbVar 398 477 Infevers 399 477 KAT6BDB 400 477 LMDD 401 477 OIVD 402 477 PAHdb 404 477 1kg_3 405 477 1kg_3_afr 406 477 1kg_3_amr 407 477 1kg_3_eas 408 477 1kg_3_sas 409 477 1kg_3_eur 410 477 1kg_3_com 411 477 1kg_3_afr_com 412 477 1kg_3_amr_com 413 477 1kg_3_eas_com 414 477 1kg_3_sas_com 415 477 1kg_3_eur_com 416 469 SO:0001818 417 470 protein_altering_variant 418 497 Phenotype_or_Disease 419 477 lsdb_variants 420 477 exac 421 497 ExAC 422 470 interchromosomal_translocation 423 469 SO:0002060 424 470 intrachromosomal_translocation 425 469 SO:0002061 426 470 Alu_insertion 427 469 SO:0002063 428 477 PorcineLD 429 477 PorcineHD 430 477 Affy_PorcineHD 431 470 complex_substitution 432 469 SO:1000005 433 471 Complex substitution 434 508 non_specified 435 508 trait 436 508 tumour