Mercurial > repos > bgruening > pharmcat
comparison test-data/test_3.json @ 1:8005ce1418ac draft default tip
"planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit dddf99b20ed9b07334505917f362785e3dace3b9"
| author | bgruening |
|---|---|
| date | Thu, 05 May 2022 20:26:42 +0000 |
| parents | 28aa54c800c0 |
| children |
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| 0:28aa54c800c0 | 1:8005ce1418ac |
|---|---|
| 1 [ | 1 [ |
| 2 { | |
| 3 "geneSymbol": "ABCG2", | |
| 4 "chr": "chr4", | |
| 5 "phased": true, | |
| 6 "callSource": "MATCHER", | |
| 7 "uncalledHaplotypes": [ | |
| 8 "rs2231142 reference (G)", | |
| 9 "rs2231142 variant (T)" | |
| 10 ], | |
| 11 "messages": [], | |
| 12 "relatedDrugs": [], | |
| 13 "matcherDiplotypes": [ | |
| 14 { | |
| 15 "allele1": { | |
| 16 "gene": "ABCG2", | |
| 17 "name": "Unknown", | |
| 18 "function": "Unassigned function", | |
| 19 "reference": false | |
| 20 }, | |
| 21 "allele2": { | |
| 22 "gene": "ABCG2", | |
| 23 "name": "Unknown", | |
| 24 "function": "Unassigned function", | |
| 25 "reference": false | |
| 26 }, | |
| 27 "gene": "ABCG2", | |
| 28 "phenotypes": [ | |
| 29 "No Result" | |
| 30 ], | |
| 31 "variant": null, | |
| 32 "lookupKey": [ | |
| 33 "No Result" | |
| 34 ], | |
| 35 "label": "Unknown/Unknown" | |
| 36 } | |
| 37 ], | |
| 38 "diplotypes": [ | |
| 39 { | |
| 40 "allele1": { | |
| 41 "gene": "ABCG2", | |
| 42 "name": "Unknown", | |
| 43 "function": "Unassigned function", | |
| 44 "reference": false | |
| 45 }, | |
| 46 "allele2": { | |
| 47 "gene": "ABCG2", | |
| 48 "name": "Unknown", | |
| 49 "function": "Unassigned function", | |
| 50 "reference": false | |
| 51 }, | |
| 52 "gene": "ABCG2", | |
| 53 "phenotypes": [ | |
| 54 "No Result" | |
| 55 ], | |
| 56 "variant": null, | |
| 57 "lookupKey": [ | |
| 58 "No Result" | |
| 59 ], | |
| 60 "label": "Unknown/Unknown" | |
| 61 } | |
| 62 ], | |
| 63 "variants": [ | |
| 64 { | |
| 65 "gene": "ABCG2", | |
| 66 "chromosome": "chr4", | |
| 67 "position": 88131171, | |
| 68 "dbSnpId": "rs2231142", | |
| 69 "call": null, | |
| 70 "alleles": [ | |
| 71 "rs2231142 variant (T)" | |
| 72 ], | |
| 73 "phased": false, | |
| 74 "wildtypeAllele": "G", | |
| 75 "mismatch": false, | |
| 76 "warnings": [] | |
| 77 } | |
| 78 ], | |
| 79 "variantsOfInterest": [], | |
| 80 "highlightedVariants": [] | |
| 81 }, | |
| 2 { | 82 { |
| 3 "geneSymbol": "CACNA1S", | 83 "geneSymbol": "CACNA1S", |
| 4 "chr": "chr1", | 84 "chr": "chr1", |
| 5 "phased": true, | 85 "phased": true, |
| 6 "callSource": "MATCHER", | 86 "callSource": "MATCHER", |
| 20 "name": "Reference", | 100 "name": "Reference", |
| 21 "function": "Normal Function", | 101 "function": "Normal Function", |
| 22 "reference": true | 102 "reference": true |
| 23 }, | 103 }, |
| 24 "gene": "CACNA1S", | 104 "gene": "CACNA1S", |
| 25 "phenotype": "Uncertain Susceptibility", | 105 "phenotypes": [ |
| 106 "Uncertain Susceptibility" | |
| 107 ], | |
| 26 "variant": null, | 108 "variant": null, |
| 27 "lookupKey": "Uncertain Susceptibility", | 109 "lookupKey": [ |
| 110 "Uncertain Susceptibility" | |
| 111 ], | |
| 28 "label": "Reference/Reference" | 112 "label": "Reference/Reference" |
| 29 } | 113 } |
| 30 ], | 114 ], |
| 31 "diplotypes": [ | 115 "diplotypes": [ |
| 32 { | 116 { |
| 41 "name": "Reference", | 125 "name": "Reference", |
| 42 "function": "Normal Function", | 126 "function": "Normal Function", |
| 43 "reference": true | 127 "reference": true |
| 44 }, | 128 }, |
| 45 "gene": "CACNA1S", | 129 "gene": "CACNA1S", |
| 46 "phenotype": "Uncertain Susceptibility", | 130 "phenotypes": [ |
| 131 "Uncertain Susceptibility" | |
| 132 ], | |
| 47 "variant": null, | 133 "variant": null, |
| 48 "lookupKey": "Uncertain Susceptibility", | 134 "lookupKey": [ |
| 135 "Uncertain Susceptibility" | |
| 136 ], | |
| 49 "label": "Reference/Reference" | 137 "label": "Reference/Reference" |
| 50 } | 138 } |
| 51 ], | 139 ], |
| 52 "variants": [ | 140 "variants": [ |
| 53 { | 141 { |
| 59 "alleles": [ | 147 "alleles": [ |
| 60 "c.3257G\u003eA" | 148 "c.3257G\u003eA" |
| 61 ], | 149 ], |
| 62 "phased": true, | 150 "phased": true, |
| 63 "wildtypeAllele": "C", | 151 "wildtypeAllele": "C", |
| 64 "mismatch": false | 152 "mismatch": false, |
| 153 "warnings": [] | |
| 65 }, | 154 }, |
| 66 { | 155 { |
| 67 "gene": "CACNA1S", | 156 "gene": "CACNA1S", |
| 68 "chromosome": "chr1", | 157 "chromosome": "chr1", |
| 69 "position": 201091993, | 158 "position": 201091993, |
| 72 "alleles": [ | 161 "alleles": [ |
| 73 "c.520C\u003eT" | 162 "c.520C\u003eT" |
| 74 ], | 163 ], |
| 75 "phased": true, | 164 "phased": true, |
| 76 "wildtypeAllele": "G", | 165 "wildtypeAllele": "G", |
| 77 "mismatch": false | 166 "mismatch": false, |
| 167 "warnings": [] | |
| 78 } | 168 } |
| 79 ], | 169 ], |
| 80 "variantsOfInterest": [], | 170 "variantsOfInterest": [], |
| 81 "highlightedVariants": [] | 171 "highlightedVariants": [] |
| 82 }, | 172 }, |
| 101 "name": "ivacaftor non-responsive CFTR sequence", | 191 "name": "ivacaftor non-responsive CFTR sequence", |
| 102 "function": "ivacaftor non-responsive", | 192 "function": "ivacaftor non-responsive", |
| 103 "reference": true | 193 "reference": true |
| 104 }, | 194 }, |
| 105 "gene": "CFTR", | 195 "gene": "CFTR", |
| 106 "phenotype": "ivacaftor non-responsive in CF patients", | 196 "phenotypes": [ |
| 197 "ivacaftor non-responsive in CF patients" | |
| 198 ], | |
| 107 "variant": null, | 199 "variant": null, |
| 108 "lookupKey": "ivacaftor non-responsive in CF patients", | 200 "lookupKey": [ |
| 201 "ivacaftor non-responsive in CF patients" | |
| 202 ], | |
| 109 "label": "No CPIC variants found" | 203 "label": "No CPIC variants found" |
| 110 } | 204 } |
| 111 ], | 205 ], |
| 112 "diplotypes": [ | 206 "diplotypes": [ |
| 113 { | 207 { |
| 122 "name": "ivacaftor non-responsive CFTR sequence", | 216 "name": "ivacaftor non-responsive CFTR sequence", |
| 123 "function": "ivacaftor non-responsive", | 217 "function": "ivacaftor non-responsive", |
| 124 "reference": true | 218 "reference": true |
| 125 }, | 219 }, |
| 126 "gene": "CFTR", | 220 "gene": "CFTR", |
| 127 "phenotype": "ivacaftor non-responsive in CF patients", | 221 "phenotypes": [ |
| 222 "ivacaftor non-responsive in CF patients" | |
| 223 ], | |
| 128 "variant": null, | 224 "variant": null, |
| 129 "lookupKey": "ivacaftor non-responsive in CF patients", | 225 "lookupKey": [ |
| 226 "ivacaftor non-responsive in CF patients" | |
| 227 ], | |
| 130 "label": "No CPIC variants found" | 228 "label": "No CPIC variants found" |
| 131 } | 229 } |
| 132 ], | 230 ], |
| 133 "variants": [ | 231 "variants": [ |
| 134 { | 232 { |
| 140 "alleles": [ | 238 "alleles": [ |
| 141 "E56K" | 239 "E56K" |
| 142 ], | 240 ], |
| 143 "phased": true, | 241 "phased": true, |
| 144 "wildtypeAllele": "G", | 242 "wildtypeAllele": "G", |
| 145 "mismatch": false | 243 "mismatch": false, |
| 244 "warnings": [] | |
| 146 }, | 245 }, |
| 147 { | 246 { |
| 148 "gene": "CFTR", | 247 "gene": "CFTR", |
| 149 "chromosome": "chr7", | 248 "chromosome": "chr7", |
| 150 "position": 117509069, | 249 "position": 117509069, |
| 153 "alleles": [ | 252 "alleles": [ |
| 154 "P67L" | 253 "P67L" |
| 155 ], | 254 ], |
| 156 "phased": true, | 255 "phased": true, |
| 157 "wildtypeAllele": "C", | 256 "wildtypeAllele": "C", |
| 158 "mismatch": false | 257 "mismatch": false, |
| 258 "warnings": [] | |
| 159 }, | 259 }, |
| 160 { | 260 { |
| 161 "gene": "CFTR", | 261 "gene": "CFTR", |
| 162 "chromosome": "chr7", | 262 "chromosome": "chr7", |
| 163 "position": 117509089, | 263 "position": 117509089, |
| 166 "alleles": [ | 266 "alleles": [ |
| 167 "R74W" | 267 "R74W" |
| 168 ], | 268 ], |
| 169 "phased": true, | 269 "phased": true, |
| 170 "wildtypeAllele": "C", | 270 "wildtypeAllele": "C", |
| 171 "mismatch": false | 271 "mismatch": false, |
| 272 "warnings": [] | |
| 172 }, | 273 }, |
| 173 { | 274 { |
| 174 "gene": "CFTR", | 275 "gene": "CFTR", |
| 175 "chromosome": "chr7", | 276 "chromosome": "chr7", |
| 176 "position": 117530953, | 277 "position": 117530953, |
| 179 "alleles": [ | 280 "alleles": [ |
| 180 "D110H" | 281 "D110H" |
| 181 ], | 282 ], |
| 182 "phased": true, | 283 "phased": true, |
| 183 "wildtypeAllele": "G", | 284 "wildtypeAllele": "G", |
| 184 "mismatch": false | 285 "mismatch": false, |
| 286 "warnings": [] | |
| 185 }, | 287 }, |
| 186 { | 288 { |
| 187 "gene": "CFTR", | 289 "gene": "CFTR", |
| 188 "chromosome": "chr7", | 290 "chromosome": "chr7", |
| 189 "position": 117530955, | 291 "position": 117530955, |
| 192 "alleles": [ | 294 "alleles": [ |
| 193 "D110E" | 295 "D110E" |
| 194 ], | 296 ], |
| 195 "phased": true, | 297 "phased": true, |
| 196 "wildtypeAllele": "C", | 298 "wildtypeAllele": "C", |
| 197 "mismatch": false | 299 "mismatch": false, |
| 300 "warnings": [] | |
| 198 }, | 301 }, |
| 199 { | 302 { |
| 200 "gene": "CFTR", | 303 "gene": "CFTR", |
| 201 "chromosome": "chr7", | 304 "chromosome": "chr7", |
| 202 "position": 117530974, | 305 "position": 117530974, |
| 205 "alleles": [ | 308 "alleles": [ |
| 206 "R117C" | 309 "R117C" |
| 207 ], | 310 ], |
| 208 "phased": true, | 311 "phased": true, |
| 209 "wildtypeAllele": "C", | 312 "wildtypeAllele": "C", |
| 210 "mismatch": false | 313 "mismatch": false, |
| 314 "warnings": [] | |
| 211 }, | 315 }, |
| 212 { | 316 { |
| 213 "gene": "CFTR", | 317 "gene": "CFTR", |
| 214 "chromosome": "chr7", | 318 "chromosome": "chr7", |
| 215 "position": 117530975, | 319 "position": 117530975, |
| 218 "alleles": [ | 322 "alleles": [ |
| 219 "R117H" | 323 "R117H" |
| 220 ], | 324 ], |
| 221 "phased": true, | 325 "phased": true, |
| 222 "wildtypeAllele": "G", | 326 "wildtypeAllele": "G", |
| 223 "mismatch": false | 327 "mismatch": false, |
| 328 "warnings": [] | |
| 224 }, | 329 }, |
| 225 { | 330 { |
| 226 "gene": "CFTR", | 331 "gene": "CFTR", |
| 227 "chromosome": "chr7", | 332 "chromosome": "chr7", |
| 228 "position": 117534318, | 333 "position": 117534318, |
| 231 "alleles": [ | 336 "alleles": [ |
| 232 "G178R" | 337 "G178R" |
| 233 ], | 338 ], |
| 234 "phased": true, | 339 "phased": true, |
| 235 "wildtypeAllele": "G", | 340 "wildtypeAllele": "G", |
| 236 "mismatch": false | 341 "mismatch": false, |
| 342 "warnings": [] | |
| 237 }, | 343 }, |
| 238 { | 344 { |
| 239 "gene": "CFTR", | 345 "gene": "CFTR", |
| 240 "chromosome": "chr7", | 346 "chromosome": "chr7", |
| 241 "position": 117534363, | 347 "position": 117534363, |
| 244 "alleles": [ | 350 "alleles": [ |
| 245 "E193K" | 351 "E193K" |
| 246 ], | 352 ], |
| 247 "phased": true, | 353 "phased": true, |
| 248 "wildtypeAllele": "G", | 354 "wildtypeAllele": "G", |
| 249 "mismatch": false | 355 "mismatch": false, |
| 356 "warnings": [] | |
| 250 }, | 357 }, |
| 251 { | 358 { |
| 252 "gene": "CFTR", | 359 "gene": "CFTR", |
| 253 "chromosome": "chr7", | 360 "chromosome": "chr7", |
| 254 "position": 117534368, | 361 "position": 117534368, |
| 257 "alleles": [ | 364 "alleles": [ |
| 258 "711+3A-\u003eG" | 365 "711+3A-\u003eG" |
| 259 ], | 366 ], |
| 260 "phased": true, | 367 "phased": true, |
| 261 "wildtypeAllele": "A", | 368 "wildtypeAllele": "A", |
| 262 "mismatch": false | 369 "mismatch": false, |
| 370 "warnings": [] | |
| 263 }, | 371 }, |
| 264 { | 372 { |
| 265 "gene": "CFTR", | 373 "gene": "CFTR", |
| 266 "chromosome": "chr7", | 374 "chromosome": "chr7", |
| 267 "position": 117535285, | 375 "position": 117535285, |
| 270 "alleles": [ | 378 "alleles": [ |
| 271 "L206W" | 379 "L206W" |
| 272 ], | 380 ], |
| 273 "phased": true, | 381 "phased": true, |
| 274 "wildtypeAllele": "T", | 382 "wildtypeAllele": "T", |
| 275 "mismatch": false | 383 "mismatch": false, |
| 384 "warnings": [] | |
| 276 }, | 385 }, |
| 277 { | 386 { |
| 278 "gene": "CFTR", | 387 "gene": "CFTR", |
| 279 "chromosome": "chr7", | 388 "chromosome": "chr7", |
| 280 "position": 117540270, | 389 "position": 117540270, |
| 283 "alleles": [ | 392 "alleles": [ |
| 284 "R347H" | 393 "R347H" |
| 285 ], | 394 ], |
| 286 "phased": true, | 395 "phased": true, |
| 287 "wildtypeAllele": "G", | 396 "wildtypeAllele": "G", |
| 288 "mismatch": false | 397 "mismatch": false, |
| 398 "warnings": [] | |
| 289 }, | 399 }, |
| 290 { | 400 { |
| 291 "gene": "CFTR", | 401 "gene": "CFTR", |
| 292 "chromosome": "chr7", | 402 "chromosome": "chr7", |
| 293 "position": 117540285, | 403 "position": 117540285, |
| 296 "alleles": [ | 406 "alleles": [ |
| 297 "R352Q" | 407 "R352Q" |
| 298 ], | 408 ], |
| 299 "phased": true, | 409 "phased": true, |
| 300 "wildtypeAllele": "G", | 410 "wildtypeAllele": "G", |
| 301 "mismatch": false | 411 "mismatch": false, |
| 412 "warnings": [] | |
| 302 }, | 413 }, |
| 303 { | 414 { |
| 304 "gene": "CFTR", | 415 "gene": "CFTR", |
| 305 "chromosome": "chr7", | 416 "chromosome": "chr7", |
| 306 "position": 117548795, | 417 "position": 117548795, |
| 309 "alleles": [ | 420 "alleles": [ |
| 310 "A455E" | 421 "A455E" |
| 311 ], | 422 ], |
| 312 "phased": true, | 423 "phased": true, |
| 313 "wildtypeAllele": "C", | 424 "wildtypeAllele": "C", |
| 314 "mismatch": false | 425 "mismatch": false, |
| 426 "warnings": [] | |
| 315 }, | 427 }, |
| 316 { | 428 { |
| 317 "gene": "CFTR", | 429 "gene": "CFTR", |
| 318 "chromosome": "chr7", | 430 "chromosome": "chr7", |
| 319 "position": 117587799, | 431 "position": 117587799, |
| 322 "alleles": [ | 434 "alleles": [ |
| 323 "S549R(A\u003eC)" | 435 "S549R(A\u003eC)" |
| 324 ], | 436 ], |
| 325 "phased": true, | 437 "phased": true, |
| 326 "wildtypeAllele": "A", | 438 "wildtypeAllele": "A", |
| 327 "mismatch": false | 439 "mismatch": false, |
| 440 "warnings": [] | |
| 328 }, | 441 }, |
| 329 { | 442 { |
| 330 "gene": "CFTR", | 443 "gene": "CFTR", |
| 331 "chromosome": "chr7", | 444 "chromosome": "chr7", |
| 332 "position": 117587800, | 445 "position": 117587800, |
| 335 "alleles": [ | 448 "alleles": [ |
| 336 "S549N" | 449 "S549N" |
| 337 ], | 450 ], |
| 338 "phased": true, | 451 "phased": true, |
| 339 "wildtypeAllele": "G", | 452 "wildtypeAllele": "G", |
| 340 "mismatch": false | 453 "mismatch": false, |
| 454 "warnings": [] | |
| 341 }, | 455 }, |
| 342 { | 456 { |
| 343 "gene": "CFTR", | 457 "gene": "CFTR", |
| 344 "chromosome": "chr7", | 458 "chromosome": "chr7", |
| 345 "position": 117587801, | 459 "position": 117587801, |
| 348 "alleles": [ | 462 "alleles": [ |
| 349 "S549R(T\u003eG)" | 463 "S549R(T\u003eG)" |
| 350 ], | 464 ], |
| 351 "phased": true, | 465 "phased": true, |
| 352 "wildtypeAllele": "T", | 466 "wildtypeAllele": "T", |
| 353 "mismatch": false | 467 "mismatch": false, |
| 468 "warnings": [] | |
| 354 }, | 469 }, |
| 355 { | 470 { |
| 356 "gene": "CFTR", | 471 "gene": "CFTR", |
| 357 "chromosome": "chr7", | 472 "chromosome": "chr7", |
| 358 "position": 117587805, | 473 "position": 117587805, |
| 361 "alleles": [ | 476 "alleles": [ |
| 362 "G551S" | 477 "G551S" |
| 363 ], | 478 ], |
| 364 "phased": true, | 479 "phased": true, |
| 365 "wildtypeAllele": "G", | 480 "wildtypeAllele": "G", |
| 366 "mismatch": false | 481 "mismatch": false, |
| 482 "warnings": [] | |
| 367 }, | 483 }, |
| 368 { | 484 { |
| 369 "gene": "CFTR", | 485 "gene": "CFTR", |
| 370 "chromosome": "chr7", | 486 "chromosome": "chr7", |
| 371 "position": 117587806, | 487 "position": 117587806, |
| 374 "alleles": [ | 490 "alleles": [ |
| 375 "G551D" | 491 "G551D" |
| 376 ], | 492 ], |
| 377 "phased": true, | 493 "phased": true, |
| 378 "wildtypeAllele": "G", | 494 "wildtypeAllele": "G", |
| 379 "mismatch": false | 495 "mismatch": false, |
| 496 "warnings": [] | |
| 380 }, | 497 }, |
| 381 { | 498 { |
| 382 "gene": "CFTR", | 499 "gene": "CFTR", |
| 383 "chromosome": "chr7", | 500 "chromosome": "chr7", |
| 384 "position": 117590409, | 501 "position": 117590409, |
| 387 "alleles": [ | 504 "alleles": [ |
| 388 "D579G" | 505 "D579G" |
| 389 ], | 506 ], |
| 390 "phased": true, | 507 "phased": true, |
| 391 "wildtypeAllele": "A", | 508 "wildtypeAllele": "A", |
| 392 "mismatch": false | 509 "mismatch": false, |
| 510 "warnings": [] | |
| 393 }, | 511 }, |
| 394 { | 512 { |
| 395 "gene": "CFTR", | 513 "gene": "CFTR", |
| 396 "chromosome": "chr7", | 514 "chromosome": "chr7", |
| 397 "position": 117594930, | 515 "position": 117594930, |
| 400 "alleles": [ | 518 "alleles": [ |
| 401 "E831X" | 519 "E831X" |
| 402 ], | 520 ], |
| 403 "phased": true, | 521 "phased": true, |
| 404 "wildtypeAllele": "G", | 522 "wildtypeAllele": "G", |
| 405 "mismatch": false | 523 "mismatch": false, |
| 524 "warnings": [] | |
| 406 }, | 525 }, |
| 407 { | 526 { |
| 408 "gene": "CFTR", | 527 "gene": "CFTR", |
| 409 "chromosome": "chr7", | 528 "chromosome": "chr7", |
| 410 "position": 117602868, | 529 "position": 117602868, |
| 413 "alleles": [ | 532 "alleles": [ |
| 414 "2789+5G-\u003eA" | 533 "2789+5G-\u003eA" |
| 415 ], | 534 ], |
| 416 "phased": true, | 535 "phased": true, |
| 417 "wildtypeAllele": "G", | 536 "wildtypeAllele": "G", |
| 418 "mismatch": false | 537 "mismatch": false, |
| 538 "warnings": [] | |
| 419 }, | 539 }, |
| 420 { | 540 { |
| 421 "gene": "CFTR", | 541 "gene": "CFTR", |
| 422 "chromosome": "chr7", | 542 "chromosome": "chr7", |
| 423 "position": 117603708, | 543 "position": 117603708, |
| 426 "alleles": [ | 546 "alleles": [ |
| 427 "S945L" | 547 "S945L" |
| 428 ], | 548 ], |
| 429 "phased": true, | 549 "phased": true, |
| 430 "wildtypeAllele": "C", | 550 "wildtypeAllele": "C", |
| 431 "mismatch": false | 551 "mismatch": false, |
| 552 "warnings": [] | |
| 432 }, | 553 }, |
| 433 { | 554 { |
| 434 "gene": "CFTR", | 555 "gene": "CFTR", |
| 435 "chromosome": "chr7", | 556 "chromosome": "chr7", |
| 436 "position": 117606695, | 557 "position": 117606695, |
| 439 "alleles": [ | 560 "alleles": [ |
| 440 "S977F" | 561 "S977F" |
| 441 ], | 562 ], |
| 442 "phased": true, | 563 "phased": true, |
| 443 "wildtypeAllele": "C", | 564 "wildtypeAllele": "C", |
| 444 "mismatch": false | 565 "mismatch": false, |
| 566 "warnings": [] | |
| 445 }, | 567 }, |
| 446 { | 568 { |
| 447 "gene": "CFTR", | 569 "gene": "CFTR", |
| 448 "chromosome": "chr7", | 570 "chromosome": "chr7", |
| 449 "position": 117611555, | 571 "position": 117611555, |
| 452 "alleles": [ | 574 "alleles": [ |
| 453 "3272-26A-\u003eG" | 575 "3272-26A-\u003eG" |
| 454 ], | 576 ], |
| 455 "phased": true, | 577 "phased": true, |
| 456 "wildtypeAllele": "A", | 578 "wildtypeAllele": "A", |
| 457 "mismatch": false | 579 "mismatch": false, |
| 580 "warnings": [] | |
| 458 }, | 581 }, |
| 459 { | 582 { |
| 460 "gene": "CFTR", | 583 "gene": "CFTR", |
| 461 "chromosome": "chr7", | 584 "chromosome": "chr7", |
| 462 "position": 117611595, | 585 "position": 117611595, |
| 465 "alleles": [ | 588 "alleles": [ |
| 466 "F1052V" | 589 "F1052V" |
| 467 ], | 590 ], |
| 468 "phased": true, | 591 "phased": true, |
| 469 "wildtypeAllele": "T", | 592 "wildtypeAllele": "T", |
| 470 "mismatch": false | 593 "mismatch": false, |
| 594 "warnings": [] | |
| 471 }, | 595 }, |
| 472 { | 596 { |
| 473 "gene": "CFTR", | 597 "gene": "CFTR", |
| 474 "chromosome": "chr7", | 598 "chromosome": "chr7", |
| 475 "position": 117611620, | 599 "position": 117611620, |
| 478 "alleles": [ | 602 "alleles": [ |
| 479 "K1060T" | 603 "K1060T" |
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| 482 "wildtypeAllele": "A", | 606 "wildtypeAllele": "A", |
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| 484 }, | 609 }, |
| 485 { | 610 { |
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| 492 "A1067T" | 617 "A1067T" |
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| 622 "warnings": [] | |
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| 498 { | 624 { |
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| 636 "warnings": [] | |
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| 511 { | 638 { |
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| 524 { | 652 { |
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| 536 }, | 665 }, |
| 537 { | 666 { |
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| 547 "wildtypeAllele": "T", | 676 "wildtypeAllele": "T", |
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| 678 "warnings": [] | |
| 549 }, | 679 }, |
| 550 { | 680 { |
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| 560 "wildtypeAllele": "G", | 690 "wildtypeAllele": "G", |
| 561 "mismatch": false | 691 "mismatch": false, |
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| 563 { | 694 { |
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| 720 "warnings": [] | |
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| 589 { | 722 { |
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| 613 "mismatch": false | 747 "mismatch": false, |
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| 628 { | 764 { |
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| 639 "mismatch": false | 775 "mismatch": false, |
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| 806 "Normal Metabolizer" | |
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| 810 "Normal Metabolizer" | |
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| 831 "Normal Metabolizer" | |
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| 835 "Normal Metabolizer" | |
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| 696 { | 841 { |
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| 725 { | 872 { |
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| 739 { | 887 { |
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| 752 { | 901 { |
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| 778 { | 929 { |
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| 828 "mismatch": false | 982 "mismatch": false, |
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| 830 { | 985 { |
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| 840 "wildtypeAllele": "G", | 995 "wildtypeAllele": "G", |
| 841 "mismatch": false | 996 "mismatch": false, |
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| 843 { | 999 { |
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| 853 "wildtypeAllele": "T", | 1009 "wildtypeAllele": "T", |
| 854 "mismatch": false | 1010 "mismatch": false, |
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| 856 { | 1013 { |
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| 863 "*8", | 1020 "*8", |
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| 867 "wildtypeAllele": "A", | 1024 "wildtypeAllele": "A", |
| 868 "mismatch": false | 1025 "mismatch": false, |
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| 870 { | 1028 { |
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| 877 "*14" | 1035 "*14" |
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| 880 "wildtypeAllele": "G", | 1038 "wildtypeAllele": "G", |
| 881 "mismatch": false | 1039 "mismatch": false, |
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| 883 { | 1042 { |
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| 893 "wildtypeAllele": "G", | 1052 "wildtypeAllele": "G", |
| 894 "mismatch": false | 1053 "mismatch": false, |
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| 919 "wildtypeAllele": "C", | 1080 "wildtypeAllele": "C", |
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| 922 { | 1084 { |
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| 938 "*37", | 1100 "*37", |
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| 943 "mismatch": false | 1105 "mismatch": false, |
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| 944 }, | 1107 }, |
| 945 { | 1108 { |
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| 952 "*37" | 1115 "*37" |
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| 956 "mismatch": false | 1119 "mismatch": false, |
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| 958 { | 1122 { |
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| 972 { | 1137 { |
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| 982 "wildtypeAllele": "C", | 1147 "wildtypeAllele": "C", |
| 983 "mismatch": false | 1148 "mismatch": false, |
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| 985 { | 1151 { |
| 986 "gene": "CYP2B6", | 1152 "gene": "CYP2B6", |
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| 1113 { | 1288 { |
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| 1414 "Normal Metabolizer" | |
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| 1263 { | 1453 { |
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| 1276 { | 1467 { |
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| 1289 { | 1481 { |
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| 1410 { | 1611 { |
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| 1420 "wildtypeAllele": "T", | 1621 "wildtypeAllele": "T", |
| 1421 "mismatch": false | 1622 "mismatch": false, |
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| 1423 { | 1625 { |
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| 1430 "*39" | 1632 "*39" |
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| 1436 { | 1639 { |
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| 1446 "wildtypeAllele": "G", | 1649 "wildtypeAllele": "G", |
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| 1449 { | 1653 { |
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| 1459 "wildtypeAllele": "G", | 1663 "wildtypeAllele": "G", |
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| 1462 { | 1667 { |
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| 1473 "wildtypeAllele": "G", | 1678 "wildtypeAllele": "G", |
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| 1476 { | 1682 { |
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| 1487 "mismatch": false | 1693 "mismatch": false, |
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| 1489 { | 1696 { |
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| 1497 ], | 1704 ], |
| 1498 "phased": true, | 1705 "phased": true, |
| 1499 "wildtypeAllele": "G", | 1706 "wildtypeAllele": "G", |
| 1500 "mismatch": false | 1707 "mismatch": false, |
| 1708 "warnings": [] | |
| 1501 }, | 1709 }, |
| 1502 { | 1710 { |
| 1503 "gene": "CYP2C19", | 1711 "gene": "CYP2C19", |
| 1504 "chromosome": "chr10", | 1712 "chromosome": "chr10", |
| 1505 "position": 94780653, | 1713 "position": 94780653, |
| 1508 "alleles": [ | 1716 "alleles": [ |
| 1509 "*3" | 1717 "*3" |
| 1510 ], | 1718 ], |
| 1511 "phased": true, | 1719 "phased": true, |
| 1512 "wildtypeAllele": "G", | 1720 "wildtypeAllele": "G", |
| 1513 "mismatch": false | 1721 "mismatch": false, |
| 1722 "warnings": [] | |
| 1514 }, | 1723 }, |
| 1515 { | 1724 { |
| 1516 "gene": "CYP2C19", | 1725 "gene": "CYP2C19", |
| 1517 "chromosome": "chr10", | 1726 "chromosome": "chr10", |
| 1518 "position": 94781858, | 1727 "position": 94781858, |
| 1521 "alleles": [ | 1730 "alleles": [ |
| 1522 "*10" | 1731 "*10" |
| 1523 ], | 1732 ], |
| 1524 "phased": true, | 1733 "phased": true, |
| 1525 "wildtypeAllele": "C", | 1734 "wildtypeAllele": "C", |
| 1526 "mismatch": false | 1735 "mismatch": false, |
| 1736 "warnings": [] | |
| 1527 }, | 1737 }, |
| 1528 { | 1738 { |
| 1529 "gene": "CYP2C19", | 1739 "gene": "CYP2C19", |
| 1530 "chromosome": "chr10", | 1740 "chromosome": "chr10", |
| 1531 "position": 94781859, | 1741 "position": 94781859, |
| 1534 "alleles": [ | 1744 "alleles": [ |
| 1535 "*2" | 1745 "*2" |
| 1536 ], | 1746 ], |
| 1537 "phased": true, | 1747 "phased": true, |
| 1538 "wildtypeAllele": "G", | 1748 "wildtypeAllele": "G", |
| 1539 "mismatch": false | 1749 "mismatch": false, |
| 1750 "warnings": [] | |
| 1540 }, | 1751 }, |
| 1541 { | 1752 { |
| 1542 "gene": "CYP2C19", | 1753 "gene": "CYP2C19", |
| 1543 "chromosome": "chr10", | 1754 "chromosome": "chr10", |
| 1544 "position": 94781944, | 1755 "position": 94781944, |
| 1547 "alleles": [ | 1758 "alleles": [ |
| 1548 "*26" | 1759 "*26" |
| 1549 ], | 1760 ], |
| 1550 "phased": true, | 1761 "phased": true, |
| 1551 "wildtypeAllele": "G", | 1762 "wildtypeAllele": "G", |
| 1552 "mismatch": false | 1763 "mismatch": false, |
| 1764 "warnings": [] | |
| 1553 }, | 1765 }, |
| 1554 { | 1766 { |
| 1555 "gene": "CYP2C19", | 1767 "gene": "CYP2C19", |
| 1556 "chromosome": "chr10", | 1768 "chromosome": "chr10", |
| 1557 "position": 94781999, | 1769 "position": 94781999, |
| 1560 "alleles": [ | 1772 "alleles": [ |
| 1561 "*7" | 1773 "*7" |
| 1562 ], | 1774 ], |
| 1563 "phased": true, | 1775 "phased": true, |
| 1564 "wildtypeAllele": "T", | 1776 "wildtypeAllele": "T", |
| 1565 "mismatch": false | 1777 "mismatch": false, |
| 1778 "warnings": [] | |
| 1566 }, | 1779 }, |
| 1567 { | 1780 { |
| 1568 "gene": "CYP2C19", | 1781 "gene": "CYP2C19", |
| 1569 "chromosome": "chr10", | 1782 "chromosome": "chr10", |
| 1570 "position": 94842861, | 1783 "position": 94842861, |
| 1573 "alleles": [ | 1786 "alleles": [ |
| 1574 "*18" | 1787 "*18" |
| 1575 ], | 1788 ], |
| 1576 "phased": true, | 1789 "phased": true, |
| 1577 "wildtypeAllele": "G", | 1790 "wildtypeAllele": "G", |
| 1578 "mismatch": false | 1791 "mismatch": false, |
| 1792 "warnings": [] | |
| 1579 }, | 1793 }, |
| 1580 { | 1794 { |
| 1581 "gene": "CYP2C19", | 1795 "gene": "CYP2C19", |
| 1582 "chromosome": "chr10", | 1796 "chromosome": "chr10", |
| 1583 "position": 94842866, | 1797 "position": 94842866, |
| 1613 "*35", | 1827 "*35", |
| 1614 "*39" | 1828 "*39" |
| 1615 ], | 1829 ], |
| 1616 "phased": true, | 1830 "phased": true, |
| 1617 "wildtypeAllele": "A", | 1831 "wildtypeAllele": "A", |
| 1618 "mismatch": false | 1832 "mismatch": false, |
| 1833 "warnings": [] | |
| 1619 }, | 1834 }, |
| 1620 { | 1835 { |
| 1621 "gene": "CYP2C19", | 1836 "gene": "CYP2C19", |
| 1622 "chromosome": "chr10", | 1837 "chromosome": "chr10", |
| 1623 "position": 94842879, | 1838 "position": 94842879, |
| 1626 "alleles": [ | 1841 "alleles": [ |
| 1627 "*24" | 1842 "*24" |
| 1628 ], | 1843 ], |
| 1629 "phased": true, | 1844 "phased": true, |
| 1630 "wildtypeAllele": "G", | 1845 "wildtypeAllele": "G", |
| 1631 "mismatch": false | 1846 "mismatch": false, |
| 1847 "warnings": [] | |
| 1632 }, | 1848 }, |
| 1633 { | 1849 { |
| 1634 "gene": "CYP2C19", | 1850 "gene": "CYP2C19", |
| 1635 "chromosome": "chr10", | 1851 "chromosome": "chr10", |
| 1636 "position": 94842995, | 1852 "position": 94842995, |
| 1639 "alleles": [ | 1855 "alleles": [ |
| 1640 "*28" | 1856 "*28" |
| 1641 ], | 1857 ], |
| 1642 "phased": true, | 1858 "phased": true, |
| 1643 "wildtypeAllele": "G", | 1859 "wildtypeAllele": "G", |
| 1644 "mismatch": false | 1860 "mismatch": false, |
| 1861 "warnings": [] | |
| 1645 }, | 1862 }, |
| 1646 { | 1863 { |
| 1647 "gene": "CYP2C19", | 1864 "gene": "CYP2C19", |
| 1648 "chromosome": "chr10", | 1865 "chromosome": "chr10", |
| 1649 "position": 94849995, | 1866 "position": 94849995, |
| 1652 "alleles": [ | 1869 "alleles": [ |
| 1653 "*13" | 1870 "*13" |
| 1654 ], | 1871 ], |
| 1655 "phased": true, | 1872 "phased": true, |
| 1656 "wildtypeAllele": "C", | 1873 "wildtypeAllele": "C", |
| 1657 "mismatch": false | 1874 "mismatch": false, |
| 1875 "warnings": [] | |
| 1658 }, | 1876 }, |
| 1659 { | 1877 { |
| 1660 "gene": "CYP2C19", | 1878 "gene": "CYP2C19", |
| 1661 "chromosome": "chr10", | 1879 "chromosome": "chr10", |
| 1662 "position": 94852738, | 1880 "position": 94852738, |
| 1665 "alleles": [ | 1883 "alleles": [ |
| 1666 "*5" | 1884 "*5" |
| 1667 ], | 1885 ], |
| 1668 "phased": true, | 1886 "phased": true, |
| 1669 "wildtypeAllele": "C", | 1887 "wildtypeAllele": "C", |
| 1670 "mismatch": false | 1888 "mismatch": false, |
| 1889 "warnings": [] | |
| 1671 }, | 1890 }, |
| 1672 { | 1891 { |
| 1673 "gene": "CYP2C19", | 1892 "gene": "CYP2C19", |
| 1674 "chromosome": "chr10", | 1893 "chromosome": "chr10", |
| 1675 "position": 94852765, | 1894 "position": 94852765, |
| 1678 "alleles": [ | 1897 "alleles": [ |
| 1679 "*16" | 1898 "*16" |
| 1680 ], | 1899 ], |
| 1681 "phased": true, | 1900 "phased": true, |
| 1682 "wildtypeAllele": "C", | 1901 "wildtypeAllele": "C", |
| 1683 "mismatch": false | 1902 "mismatch": false, |
| 1903 "warnings": [] | |
| 1684 }, | 1904 }, |
| 1685 { | 1905 { |
| 1686 "gene": "CYP2C19", | 1906 "gene": "CYP2C19", |
| 1687 "chromosome": "chr10", | 1907 "chromosome": "chr10", |
| 1688 "position": 94852785, | 1908 "position": 94852785, |
| 1691 "alleles": [ | 1911 "alleles": [ |
| 1692 "*25" | 1912 "*25" |
| 1693 ], | 1913 ], |
| 1694 "phased": true, | 1914 "phased": true, |
| 1695 "wildtypeAllele": "C", | 1915 "wildtypeAllele": "C", |
| 1696 "mismatch": false | 1916 "mismatch": false, |
| 1917 "warnings": [] | |
| 1697 }, | 1918 }, |
| 1698 { | 1919 { |
| 1699 "gene": "CYP2C19", | 1920 "gene": "CYP2C19", |
| 1700 "chromosome": "chr10", | 1921 "chromosome": "chr10", |
| 1701 "position": 94852914, | 1922 "position": 94852914, |
| 1704 "alleles": [ | 1925 "alleles": [ |
| 1705 "*12" | 1926 "*12" |
| 1706 ], | 1927 ], |
| 1707 "phased": true, | 1928 "phased": true, |
| 1708 "wildtypeAllele": "A", | 1929 "wildtypeAllele": "A", |
| 1709 "mismatch": false | 1930 "mismatch": false, |
| 1931 "warnings": [] | |
| 1710 } | 1932 } |
| 1711 ], | 1933 ], |
| 1712 "variantsOfInterest": [], | 1934 "variantsOfInterest": [], |
| 1713 "highlightedVariants": [] | 1935 "highlightedVariants": [] |
| 1714 }, | 1936 }, |
| 1719 "callSource": "MATCHER", | 1941 "callSource": "MATCHER", |
| 1720 "uncalledHaplotypes": [ | 1942 "uncalledHaplotypes": [ |
| 1721 "*72", | 1943 "*72", |
| 1722 "*73", | 1944 "*73", |
| 1723 "*74", | 1945 "*74", |
| 1724 "*75" | 1946 "*75", |
| 1947 "*76", | |
| 1948 "*77", | |
| 1949 "*78", | |
| 1950 "*79", | |
| 1951 "*80", | |
| 1952 "*81", | |
| 1953 "*82", | |
| 1954 "*83", | |
| 1955 "*84", | |
| 1956 "*85" | |
| 1725 ], | 1957 ], |
| 1726 "messages": [], | 1958 "messages": [], |
| 1727 "relatedDrugs": [], | 1959 "relatedDrugs": [], |
| 1728 "matcherDiplotypes": [ | 1960 "matcherDiplotypes": [ |
| 1729 { | 1961 { |
| 1738 "name": "*1", | 1970 "name": "*1", |
| 1739 "function": "Normal function", | 1971 "function": "Normal function", |
| 1740 "reference": true | 1972 "reference": true |
| 1741 }, | 1973 }, |
| 1742 "gene": "CYP2C9", | 1974 "gene": "CYP2C9", |
| 1743 "phenotype": "Normal Metabolizer", | 1975 "phenotypes": [ |
| 1976 "Normal Metabolizer" | |
| 1977 ], | |
| 1744 "variant": null, | 1978 "variant": null, |
| 1745 "lookupKey": "2", | 1979 "lookupKey": [ |
| 1980 "2" | |
| 1981 ], | |
| 1746 "label": "*1/*1" | 1982 "label": "*1/*1" |
| 1747 } | 1983 } |
| 1748 ], | 1984 ], |
| 1749 "diplotypes": [ | 1985 "diplotypes": [ |
| 1750 { | 1986 { |
| 1759 "name": "*1", | 1995 "name": "*1", |
| 1760 "function": "Normal function", | 1996 "function": "Normal function", |
| 1761 "reference": true | 1997 "reference": true |
| 1762 }, | 1998 }, |
| 1763 "gene": "CYP2C9", | 1999 "gene": "CYP2C9", |
| 1764 "phenotype": "Normal Metabolizer", | 2000 "phenotypes": [ |
| 2001 "Normal Metabolizer" | |
| 2002 ], | |
| 1765 "variant": null, | 2003 "variant": null, |
| 1766 "lookupKey": "2", | 2004 "lookupKey": [ |
| 2005 "2" | |
| 2006 ], | |
| 1767 "label": "*1/*1" | 2007 "label": "*1/*1" |
| 1768 } | 2008 } |
| 1769 ], | 2009 ], |
| 1770 "variants": [ | 2010 "variants": [ |
| 1771 { | 2011 { |
| 1777 "alleles": [ | 2017 "alleles": [ |
| 1778 "*36" | 2018 "*36" |
| 1779 ], | 2019 ], |
| 1780 "phased": true, | 2020 "phased": true, |
| 1781 "wildtypeAllele": "A", | 2021 "wildtypeAllele": "A", |
| 1782 "mismatch": false | 2022 "mismatch": false, |
| 2023 "warnings": [] | |
| 1783 }, | 2024 }, |
| 1784 { | 2025 { |
| 1785 "gene": "CYP2C9", | 2026 "gene": "CYP2C9", |
| 1786 "chromosome": "chr10", | 2027 "chromosome": "chr10", |
| 1787 "position": 94938737, | 2028 "position": 94938737, |
| 1790 "alleles": [ | 2031 "alleles": [ |
| 1791 "*7" | 2032 "*7" |
| 1792 ], | 2033 ], |
| 1793 "phased": true, | 2034 "phased": true, |
| 1794 "wildtypeAllele": "C", | 2035 "wildtypeAllele": "C", |
| 1795 "mismatch": false | 2036 "mismatch": false, |
| 2037 "warnings": [] | |
| 1796 }, | 2038 }, |
| 1797 { | 2039 { |
| 1798 "gene": "CYP2C9", | 2040 "gene": "CYP2C9", |
| 1799 "chromosome": "chr10", | 2041 "chromosome": "chr10", |
| 1800 "position": 94938771, | 2042 "position": 94938771, |
| 1803 "alleles": [ | 2045 "alleles": [ |
| 1804 "*21" | 2046 "*21" |
| 1805 ], | 2047 ], |
| 1806 "phased": true, | 2048 "phased": true, |
| 1807 "wildtypeAllele": "C", | 2049 "wildtypeAllele": "C", |
| 1808 "mismatch": false | 2050 "mismatch": false, |
| 2051 "warnings": [] | |
| 1809 }, | 2052 }, |
| 1810 { | 2053 { |
| 1811 "gene": "CYP2C9", | 2054 "gene": "CYP2C9", |
| 1812 "chromosome": "chr10", | 2055 "chromosome": "chr10", |
| 1813 "position": 94938803, | 2056 "position": 94938803, |
| 1816 "alleles": [ | 2059 "alleles": [ |
| 1817 "*22" | 2060 "*22" |
| 1818 ], | 2061 ], |
| 1819 "phased": true, | 2062 "phased": true, |
| 1820 "wildtypeAllele": "A", | 2063 "wildtypeAllele": "A", |
| 1821 "mismatch": false | 2064 "mismatch": false, |
| 2065 "warnings": [] | |
| 1822 }, | 2066 }, |
| 1823 { | 2067 { |
| 1824 "gene": "CYP2C9", | 2068 "gene": "CYP2C9", |
| 1825 "chromosome": "chr10", | 2069 "chromosome": "chr10", |
| 1826 "position": 94938828, | 2070 "position": 94938828, |
| 1829 "alleles": [ | 2073 "alleles": [ |
| 1830 "*37" | 2074 "*37" |
| 1831 ], | 2075 ], |
| 1832 "phased": true, | 2076 "phased": true, |
| 1833 "wildtypeAllele": "A", | 2077 "wildtypeAllele": "A", |
| 1834 "mismatch": false | 2078 "mismatch": false, |
| 2079 "warnings": [] | |
| 1835 }, | 2080 }, |
| 1836 { | 2081 { |
| 1837 "gene": "CYP2C9", | 2082 "gene": "CYP2C9", |
| 1838 "chromosome": "chr10", | 2083 "chromosome": "chr10", |
| 1839 "position": 94941897, | 2084 "position": 94941897, |
| 1842 "alleles": [ | 2087 "alleles": [ |
| 1843 "*20" | 2088 "*20" |
| 1844 ], | 2089 ], |
| 1845 "phased": true, | 2090 "phased": true, |
| 1846 "wildtypeAllele": "G", | 2091 "wildtypeAllele": "G", |
| 1847 "mismatch": false | 2092 "mismatch": false, |
| 2093 "warnings": [] | |
| 1848 }, | 2094 }, |
| 1849 { | 2095 { |
| 1850 "gene": "CYP2C9", | 2096 "gene": "CYP2C9", |
| 1851 "chromosome": "chr10", | 2097 "chromosome": "chr10", |
| 1852 "position": 94941915, | 2098 "position": 94941915, |
| 1855 "alleles": [ | 2101 "alleles": [ |
| 1856 "*23" | 2102 "*23" |
| 1857 ], | 2103 ], |
| 1858 "phased": true, | 2104 "phased": true, |
| 1859 "wildtypeAllele": "G", | 2105 "wildtypeAllele": "G", |
| 1860 "mismatch": false | 2106 "mismatch": false, |
| 2107 "warnings": [] | |
| 1861 }, | 2108 }, |
| 1862 { | 2109 { |
| 1863 "gene": "CYP2C9", | 2110 "gene": "CYP2C9", |
| 1864 "chromosome": "chr10", | 2111 "chromosome": "chr10", |
| 1865 "position": 94941958, | 2112 "position": 94941958, |
| 1868 "alleles": [ | 2115 "alleles": [ |
| 1869 "*13" | 2116 "*13" |
| 1870 ], | 2117 ], |
| 1871 "phased": true, | 2118 "phased": true, |
| 1872 "wildtypeAllele": "T", | 2119 "wildtypeAllele": "T", |
| 1873 "mismatch": false | 2120 "mismatch": false, |
| 2121 "warnings": [] | |
| 1874 }, | 2122 }, |
| 1875 { | 2123 { |
| 1876 "gene": "CYP2C9", | 2124 "gene": "CYP2C9", |
| 1877 "chromosome": "chr10", | 2125 "chromosome": "chr10", |
| 1878 "position": 94941976, | 2126 "position": 94941976, |
| 1881 "alleles": [ | 2129 "alleles": [ |
| 1882 "*38" | 2130 "*38" |
| 1883 ], | 2131 ], |
| 1884 "phased": true, | 2132 "phased": true, |
| 1885 "wildtypeAllele": "G", | 2133 "wildtypeAllele": "G", |
| 1886 "mismatch": false | 2134 "mismatch": false, |
| 2135 "warnings": [] | |
| 1887 }, | 2136 }, |
| 1888 { | 2137 { |
| 1889 "gene": "CYP2C9", | 2138 "gene": "CYP2C9", |
| 1890 "chromosome": "chr10", | 2139 "chromosome": "chr10", |
| 1891 "position": 94941982, | 2140 "position": 94941982, |
| 1894 "alleles": [ | 2143 "alleles": [ |
| 1895 "*39" | 2144 "*39" |
| 1896 ], | 2145 ], |
| 1897 "phased": true, | 2146 "phased": true, |
| 1898 "wildtypeAllele": "G", | 2147 "wildtypeAllele": "G", |
| 1899 "mismatch": false | 2148 "mismatch": false, |
| 2149 "warnings": [] | |
| 1900 }, | 2150 }, |
| 1901 { | 2151 { |
| 1902 "gene": "CYP2C9", | 2152 "gene": "CYP2C9", |
| 1903 "chromosome": "chr10", | 2153 "chromosome": "chr10", |
| 1904 "position": 94942018, | 2154 "position": 94942018, |
| 1907 "alleles": [ | 2157 "alleles": [ |
| 1908 "*40" | 2158 "*40" |
| 1909 ], | 2159 ], |
| 1910 "phased": true, | 2160 "phased": true, |
| 1911 "wildtypeAllele": "T", | 2161 "wildtypeAllele": "T", |
| 1912 "mismatch": false | 2162 "mismatch": false, |
| 2163 "warnings": [] | |
| 1913 }, | 2164 }, |
| 1914 { | 2165 { |
| 1915 "gene": "CYP2C9", | 2166 "gene": "CYP2C9", |
| 1916 "chromosome": "chr10", | 2167 "chromosome": "chr10", |
| 1917 "position": 94942205, | 2168 "position": 94942205, |
| 1920 "alleles": [ | 2171 "alleles": [ |
| 1921 "*25" | 2172 "*25" |
| 1922 ], | 2173 ], |
| 1923 "phased": true, | 2174 "phased": true, |
| 1924 "wildtypeAllele": "CAATGGAAAGA", | 2175 "wildtypeAllele": "CAATGGAAAGA", |
| 1925 "mismatch": false | 2176 "mismatch": false, |
| 2177 "warnings": [] | |
| 1926 }, | 2178 }, |
| 1927 { | 2179 { |
| 1928 "gene": "CYP2C9", | 2180 "gene": "CYP2C9", |
| 1929 "chromosome": "chr10", | 2181 "chromosome": "chr10", |
| 1930 "position": 94942216, | 2182 "position": 94942216, |
| 1933 "alleles": [ | 2185 "alleles": [ |
| 1934 "*41" | 2186 "*41" |
| 1935 ], | 2187 ], |
| 1936 "phased": true, | 2188 "phased": true, |
| 1937 "wildtypeAllele": "A", | 2189 "wildtypeAllele": "A", |
| 1938 "mismatch": false | 2190 "mismatch": false, |
| 2191 "warnings": [] | |
| 1939 }, | 2192 }, |
| 1940 { | 2193 { |
| 1941 "gene": "CYP2C9", | 2194 "gene": "CYP2C9", |
| 1942 "chromosome": "chr10", | 2195 "chromosome": "chr10", |
| 1943 "position": 94942230, | 2196 "position": 94942230, |
| 1946 "alleles": [ | 2199 "alleles": [ |
| 1947 "*43" | 2200 "*43" |
| 1948 ], | 2201 ], |
| 1949 "phased": true, | 2202 "phased": true, |
| 1950 "wildtypeAllele": "C", | 2203 "wildtypeAllele": "C", |
| 1951 "mismatch": false | 2204 "mismatch": false, |
| 2205 "warnings": [] | |
| 1952 }, | 2206 }, |
| 1953 { | 2207 { |
| 1954 "gene": "CYP2C9", | 2208 "gene": "CYP2C9", |
| 1955 "chromosome": "chr10", | 2209 "chromosome": "chr10", |
| 1956 "position": 94942231, | 2210 "position": 94942231, |
| 1959 "alleles": [ | 2213 "alleles": [ |
| 1960 "*42" | 2214 "*42" |
| 1961 ], | 2215 ], |
| 1962 "phased": true, | 2216 "phased": true, |
| 1963 "wildtypeAllele": "G", | 2217 "wildtypeAllele": "G", |
| 1964 "mismatch": false | 2218 "mismatch": false, |
| 2219 "warnings": [] | |
| 1965 }, | 2220 }, |
| 1966 { | 2221 { |
| 1967 "gene": "CYP2C9", | 2222 "gene": "CYP2C9", |
| 1968 "chromosome": "chr10", | 2223 "chromosome": "chr10", |
| 1969 "position": 94942233, | 2224 "position": 94942233, |
| 1972 "alleles": [ | 2227 "alleles": [ |
| 1973 "*62" | 2228 "*62" |
| 1974 ], | 2229 ], |
| 1975 "phased": true, | 2230 "phased": true, |
| 1976 "wildtypeAllele": "C", | 2231 "wildtypeAllele": "C", |
| 1977 "mismatch": false | 2232 "mismatch": false, |
| 2233 "warnings": [] | |
| 1978 }, | 2234 }, |
| 1979 { | 2235 { |
| 1980 "gene": "CYP2C9", | 2236 "gene": "CYP2C9", |
| 1981 "chromosome": "chr10", | 2237 "chromosome": "chr10", |
| 1982 "position": 94942234, | 2238 "position": 94942234, |
| 1986 "*14", | 2242 "*14", |
| 1987 "*35" | 2243 "*35" |
| 1988 ], | 2244 ], |
| 1989 "phased": true, | 2245 "phased": true, |
| 1990 "wildtypeAllele": "G", | 2246 "wildtypeAllele": "G", |
| 1991 "mismatch": false | 2247 "mismatch": false, |
| 2248 "warnings": [] | |
| 1992 }, | 2249 }, |
| 1993 { | 2250 { |
| 1994 "gene": "CYP2C9", | 2251 "gene": "CYP2C9", |
| 1995 "chromosome": "chr10", | 2252 "chromosome": "chr10", |
| 1996 "position": 94942249, | 2253 "position": 94942249, |
| 2000 "*26", | 2257 "*26", |
| 2001 "*44" | 2258 "*44" |
| 2002 ], | 2259 ], |
| 2003 "phased": true, | 2260 "phased": true, |
| 2004 "wildtypeAllele": "C", | 2261 "wildtypeAllele": "C", |
| 2005 "mismatch": false | 2262 "mismatch": false, |
| 2263 "warnings": [] | |
| 2006 }, | 2264 }, |
| 2007 { | 2265 { |
| 2008 "gene": "CYP2C9", | 2266 "gene": "CYP2C9", |
| 2009 "chromosome": "chr10", | 2267 "chromosome": "chr10", |
| 2010 "position": 94942254, | 2268 "position": 94942254, |
| 2013 "alleles": [ | 2271 "alleles": [ |
| 2014 "*45" | 2272 "*45" |
| 2015 ], | 2273 ], |
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| 2481 { | 2775 { |
| 2482 "gene": "CYP2C9", | 2776 "gene": "CYP2C9", |
| 2483 "chromosome": "chr10", | 2777 "chromosome": "chr10", |
| 2484 "position": 94981371, | 2778 "position": 94981371, |
| 2487 "alleles": [ | 2781 "alleles": [ |
| 2488 "*68" | 2782 "*68" |
| 2489 ], | 2783 ], |
| 2490 "phased": true, | 2784 "phased": true, |
| 2491 "wildtypeAllele": "G", | 2785 "wildtypeAllele": "G", |
| 2492 "mismatch": false | 2786 "mismatch": false, |
| 2787 "warnings": [] | |
| 2493 }, | 2788 }, |
| 2494 { | 2789 { |
| 2495 "gene": "CYP2C9", | 2790 "gene": "CYP2C9", |
| 2496 "chromosome": "chr10", | 2791 "chromosome": "chr10", |
| 2497 "position": 94986042, | 2792 "position": 94986042, |
| 2500 "alleles": [ | 2795 "alleles": [ |
| 2501 "*56" | 2796 "*56" |
| 2502 ], | 2797 ], |
| 2503 "phased": true, | 2798 "phased": true, |
| 2504 "wildtypeAllele": "A", | 2799 "wildtypeAllele": "A", |
| 2505 "mismatch": false | 2800 "mismatch": false, |
| 2801 "warnings": [] | |
| 2506 }, | 2802 }, |
| 2507 { | 2803 { |
| 2508 "gene": "CYP2C9", | 2804 "gene": "CYP2C9", |
| 2509 "chromosome": "chr10", | 2805 "chromosome": "chr10", |
| 2510 "position": 94986073, | 2806 "position": 94986073, |
| 2513 "alleles": [ | 2809 "alleles": [ |
| 2514 "*18" | 2810 "*18" |
| 2515 ], | 2811 ], |
| 2516 "phased": true, | 2812 "phased": true, |
| 2517 "wildtypeAllele": "A", | 2813 "wildtypeAllele": "A", |
| 2518 "mismatch": false | 2814 "mismatch": false, |
| 2815 "warnings": [] | |
| 2519 }, | 2816 }, |
| 2520 { | 2817 { |
| 2521 "gene": "CYP2C9", | 2818 "gene": "CYP2C9", |
| 2522 "chromosome": "chr10", | 2819 "chromosome": "chr10", |
| 2523 "position": 94988852, | 2820 "position": 94988852, |
| 2526 "alleles": [ | 2823 "alleles": [ |
| 2527 "*67" | 2824 "*67" |
| 2528 ], | 2825 ], |
| 2529 "phased": true, | 2826 "phased": true, |
| 2530 "wildtypeAllele": "C", | 2827 "wildtypeAllele": "C", |
| 2531 "mismatch": false | 2828 "mismatch": false, |
| 2829 "warnings": [] | |
| 2532 }, | 2830 }, |
| 2533 { | 2831 { |
| 2534 "gene": "CYP2C9", | 2832 "gene": "CYP2C9", |
| 2535 "chromosome": "chr10", | 2833 "chromosome": "chr10", |
| 2536 "position": 94988855, | 2834 "position": 94988855, |
| 2539 "alleles": [ | 2837 "alleles": [ |
| 2540 "*59" | 2838 "*59" |
| 2541 ], | 2839 ], |
| 2542 "phased": true, | 2840 "phased": true, |
| 2543 "wildtypeAllele": "A", | 2841 "wildtypeAllele": "A", |
| 2544 "mismatch": false | 2842 "mismatch": false, |
| 2843 "warnings": [] | |
| 2545 }, | 2844 }, |
| 2546 { | 2845 { |
| 2547 "gene": "CYP2C9", | 2846 "gene": "CYP2C9", |
| 2548 "chromosome": "chr10", | 2847 "chromosome": "chr10", |
| 2549 "position": 94988880, | 2848 "position": 94988880, |
| 2552 "alleles": [ | 2851 "alleles": [ |
| 2553 "*70" | 2852 "*70" |
| 2554 ], | 2853 ], |
| 2555 "phased": true, | 2854 "phased": true, |
| 2556 "wildtypeAllele": "G", | 2855 "wildtypeAllele": "G", |
| 2557 "mismatch": false | 2856 "mismatch": false, |
| 2857 "warnings": [] | |
| 2558 }, | 2858 }, |
| 2559 { | 2859 { |
| 2560 "gene": "CYP2C9", | 2860 "gene": "CYP2C9", |
| 2561 "chromosome": "chr10", | 2861 "chromosome": "chr10", |
| 2562 "position": 94988917, | 2862 "position": 94988917, |
| 2565 "alleles": [ | 2865 "alleles": [ |
| 2566 "*19" | 2866 "*19" |
| 2567 ], | 2867 ], |
| 2568 "phased": true, | 2868 "phased": true, |
| 2569 "wildtypeAllele": "G", | 2869 "wildtypeAllele": "G", |
| 2570 "mismatch": false | 2870 "mismatch": false, |
| 2871 "warnings": [] | |
| 2571 }, | 2872 }, |
| 2572 { | 2873 { |
| 2573 "gene": "CYP2C9", | 2874 "gene": "CYP2C9", |
| 2574 "chromosome": "chr10", | 2875 "chromosome": "chr10", |
| 2575 "position": 94988925, | 2876 "position": 94988925, |
| 2578 "alleles": [ | 2879 "alleles": [ |
| 2579 "*61" | 2880 "*61" |
| 2580 ], | 2881 ], |
| 2581 "phased": true, | 2882 "phased": true, |
| 2582 "wildtypeAllele": "A", | 2883 "wildtypeAllele": "A", |
| 2583 "mismatch": false | 2884 "mismatch": false, |
| 2885 "warnings": [] | |
| 2584 }, | 2886 }, |
| 2585 { | 2887 { |
| 2586 "gene": "CYP2C9", | 2888 "gene": "CYP2C9", |
| 2587 "chromosome": "chr10", | 2889 "chromosome": "chr10", |
| 2588 "position": 94988955, | 2890 "position": 94988955, |
| 2591 "alleles": [ | 2893 "alleles": [ |
| 2592 "*60" | 2894 "*60" |
| 2593 ], | 2895 ], |
| 2594 "phased": true, | 2896 "phased": true, |
| 2595 "wildtypeAllele": "T", | 2897 "wildtypeAllele": "T", |
| 2596 "mismatch": false | 2898 "mismatch": false, |
| 2899 "warnings": [] | |
| 2597 }, | 2900 }, |
| 2598 { | 2901 { |
| 2599 "gene": "CYP2C9", | 2902 "gene": "CYP2C9", |
| 2600 "chromosome": "chr10", | 2903 "chromosome": "chr10", |
| 2601 "position": 94988984, | 2904 "position": 94988984, |
| 2604 "alleles": [ | 2907 "alleles": [ |
| 2605 "*30" | 2908 "*30" |
| 2606 ], | 2909 ], |
| 2607 "phased": true, | 2910 "phased": true, |
| 2608 "wildtypeAllele": "G", | 2911 "wildtypeAllele": "G", |
| 2609 "mismatch": false | 2912 "mismatch": false, |
| 2913 "warnings": [] | |
| 2610 }, | 2914 }, |
| 2611 { | 2915 { |
| 2612 "gene": "CYP2C9", | 2916 "gene": "CYP2C9", |
| 2613 "chromosome": "chr10", | 2917 "chromosome": "chr10", |
| 2614 "position": 94989020, | 2918 "position": 94989020, |
| 2618 "*12", | 2922 "*12", |
| 2619 "*71" | 2923 "*71" |
| 2620 ], | 2924 ], |
| 2621 "phased": true, | 2925 "phased": true, |
| 2622 "wildtypeAllele": "C", | 2926 "wildtypeAllele": "C", |
| 2623 "mismatch": false | 2927 "mismatch": false, |
| 2928 "warnings": [] | |
| 2624 }, | 2929 }, |
| 2625 { | 2930 { |
| 2626 "gene": "CYP2C9", | 2931 "gene": "CYP2C9", |
| 2627 "chromosome": "chr10", | 2932 "chromosome": "chr10", |
| 2628 "position": 94989023, | 2933 "position": 94989023, |
| 2631 "alleles": [ | 2936 "alleles": [ |
| 2632 "*32" | 2937 "*32" |
| 2633 ], | 2938 ], |
| 2634 "phased": true, | 2939 "phased": true, |
| 2635 "wildtypeAllele": "G", | 2940 "wildtypeAllele": "G", |
| 2636 "mismatch": false | 2941 "mismatch": false, |
| 2942 "warnings": [] | |
| 2943 }, | |
| 2944 { | |
| 2945 "gene": "CYP2C9", | |
| 2946 "chromosome": "chr10", | |
| 2947 "position": 94938719, | |
| 2948 "dbSnpId": null, | |
| 2949 "call": null, | |
| 2950 "alleles": [ | |
| 2951 "*80" | |
| 2952 ], | |
| 2953 "phased": false, | |
| 2954 "wildtypeAllele": "T", | |
| 2955 "mismatch": false, | |
| 2956 "warnings": [] | |
| 2957 }, | |
| 2958 { | |
| 2959 "gene": "CYP2C9", | |
| 2960 "chromosome": "chr10", | |
| 2961 "position": 94938788, | |
| 2962 "dbSnpId": null, | |
| 2963 "call": null, | |
| 2964 "alleles": [ | |
| 2965 "*83" | |
| 2966 ], | |
| 2967 "phased": false, | |
| 2968 "wildtypeAllele": "C", | |
| 2969 "mismatch": false, | |
| 2970 "warnings": [] | |
| 2971 }, | |
| 2972 { | |
| 2973 "gene": "CYP2C9", | |
| 2974 "chromosome": "chr10", | |
| 2975 "position": 94938800, | |
| 2976 "dbSnpId": "rs1364419386", | |
| 2977 "call": null, | |
| 2978 "alleles": [ | |
| 2979 "*76" | |
| 2980 ], | |
| 2981 "phased": false, | |
| 2982 "wildtypeAllele": "G", | |
| 2983 "mismatch": false, | |
| 2984 "warnings": [] | |
| 2985 }, | |
| 2986 { | |
| 2987 "gene": "CYP2C9", | |
| 2988 "chromosome": "chr10", | |
| 2989 "position": 94941975, | |
| 2990 "dbSnpId": null, | |
| 2991 "call": null, | |
| 2992 "alleles": [ | |
| 2993 "*77" | |
| 2994 ], | |
| 2995 "phased": false, | |
| 2996 "wildtypeAllele": "G", | |
| 2997 "mismatch": false, | |
| 2998 "warnings": [] | |
| 2999 }, | |
| 3000 { | |
| 3001 "gene": "CYP2C9", | |
| 3002 "chromosome": "chr10", | |
| 3003 "position": 94942243, | |
| 3004 "dbSnpId": "rs1375956433", | |
| 3005 "call": null, | |
| 3006 "alleles": [ | |
| 3007 "*78" | |
| 3008 ], | |
| 3009 "phased": false, | |
| 3010 "wildtypeAllele": "T", | |
| 3011 "mismatch": false, | |
| 3012 "warnings": [] | |
| 2637 }, | 3013 }, |
| 2638 { | 3014 { |
| 2639 "gene": "CYP2C9", | 3015 "gene": "CYP2C9", |
| 2640 "chromosome": "chr10", | 3016 "chromosome": "chr10", |
| 2641 "position": 94942306, | 3017 "position": 94942306, |
| 2644 "alleles": [ | 3020 "alleles": [ |
| 2645 "*72" | 3021 "*72" |
| 2646 ], | 3022 ], |
| 2647 "phased": false, | 3023 "phased": false, |
| 2648 "wildtypeAllele": "C", | 3024 "wildtypeAllele": "C", |
| 2649 "mismatch": false | 3025 "mismatch": false, |
| 3026 "warnings": [] | |
| 2650 }, | 3027 }, |
| 2651 { | 3028 { |
| 2652 "gene": "CYP2C9", | 3029 "gene": "CYP2C9", |
| 2653 "chromosome": "chr10", | 3030 "chromosome": "chr10", |
| 2654 "position": 94942308, | 3031 "position": 94942308, |
| 2657 "alleles": [ | 3034 "alleles": [ |
| 2658 "*73" | 3035 "*73" |
| 2659 ], | 3036 ], |
| 2660 "phased": false, | 3037 "phased": false, |
| 2661 "wildtypeAllele": "C", | 3038 "wildtypeAllele": "C", |
| 2662 "mismatch": false | 3039 "mismatch": false, |
| 3040 "warnings": [] | |
| 2663 }, | 3041 }, |
| 2664 { | 3042 { |
| 2665 "gene": "CYP2C9", | 3043 "gene": "CYP2C9", |
| 2666 "chromosome": "chr10", | 3044 "chromosome": "chr10", |
| 2667 "position": 94947439, | 3045 "position": 94947439, |
| 2670 "alleles": [ | 3048 "alleles": [ |
| 2671 "*74" | 3049 "*74" |
| 2672 ], | 3050 ], |
| 2673 "phased": false, | 3051 "phased": false, |
| 2674 "wildtypeAllele": "G", | 3052 "wildtypeAllele": "G", |
| 2675 "mismatch": false | 3053 "mismatch": false, |
| 3054 "warnings": [] | |
| 3055 }, | |
| 3056 { | |
| 3057 "gene": "CYP2C9", | |
| 3058 "chromosome": "chr10", | |
| 3059 "position": 94949145, | |
| 3060 "dbSnpId": "rs772782449", | |
| 3061 "call": null, | |
| 3062 "alleles": [ | |
| 3063 "*82" | |
| 3064 ], | |
| 3065 "phased": false, | |
| 3066 "wildtypeAllele": "C", | |
| 3067 "mismatch": false, | |
| 3068 "warnings": [] | |
| 3069 }, | |
| 3070 { | |
| 3071 "gene": "CYP2C9", | |
| 3072 "chromosome": "chr10", | |
| 3073 "position": 94949161, | |
| 3074 "dbSnpId": null, | |
| 3075 "call": null, | |
| 3076 "alleles": [ | |
| 3077 "*85" | |
| 3078 ], | |
| 3079 "phased": false, | |
| 3080 "wildtypeAllele": "AT", | |
| 3081 "mismatch": false, | |
| 3082 "warnings": [] | |
| 3083 }, | |
| 3084 { | |
| 3085 "gene": "CYP2C9", | |
| 3086 "chromosome": "chr10", | |
| 3087 "position": 94972183, | |
| 3088 "dbSnpId": null, | |
| 3089 "call": null, | |
| 3090 "alleles": [ | |
| 3091 "*81" | |
| 3092 ], | |
| 3093 "phased": false, | |
| 3094 "wildtypeAllele": "A", | |
| 3095 "mismatch": false, | |
| 3096 "warnings": [] | |
| 3097 }, | |
| 3098 { | |
| 3099 "gene": "CYP2C9", | |
| 3100 "chromosome": "chr10", | |
| 3101 "position": 94981258, | |
| 3102 "dbSnpId": "rs1297714792", | |
| 3103 "call": null, | |
| 3104 "alleles": [ | |
| 3105 "*79" | |
| 3106 ], | |
| 3107 "phased": false, | |
| 3108 "wildtypeAllele": "C", | |
| 3109 "mismatch": false, | |
| 3110 "warnings": [] | |
| 2676 }, | 3111 }, |
| 2677 { | 3112 { |
| 2678 "gene": "CYP2C9", | 3113 "gene": "CYP2C9", |
| 2679 "chromosome": "chr10", | 3114 "chromosome": "chr10", |
| 2680 "position": 94986136, | 3115 "position": 94986136, |
| 2683 "alleles": [ | 3118 "alleles": [ |
| 2684 "*75" | 3119 "*75" |
| 2685 ], | 3120 ], |
| 2686 "phased": false, | 3121 "phased": false, |
| 2687 "wildtypeAllele": "A", | 3122 "wildtypeAllele": "A", |
| 2688 "mismatch": false | 3123 "mismatch": false, |
| 3124 "warnings": [] | |
| 3125 }, | |
| 3126 { | |
| 3127 "gene": "CYP2C9", | |
| 3128 "chromosome": "chr10", | |
| 3129 "position": 94986174, | |
| 3130 "dbSnpId": "rs1441296358", | |
| 3131 "call": null, | |
| 3132 "alleles": [ | |
| 3133 "*84" | |
| 3134 ], | |
| 3135 "phased": false, | |
| 3136 "wildtypeAllele": "G", | |
| 3137 "mismatch": false, | |
| 3138 "warnings": [] | |
| 2689 } | 3139 } |
| 2690 ], | 3140 ], |
| 2691 "variantsOfInterest": [ | 3141 "variantsOfInterest": [ |
| 2692 { | 3142 { |
| 2693 "gene": "CYP2C9", | 3143 "gene": "CYP2C9", |
| 2696 "dbSnpId": "rs12777823", | 3146 "dbSnpId": "rs12777823", |
| 2697 "call": "G|G", | 3147 "call": "G|G", |
| 2698 "alleles": [], | 3148 "alleles": [], |
| 2699 "phased": true, | 3149 "phased": true, |
| 2700 "wildtypeAllele": null, | 3150 "wildtypeAllele": null, |
| 2701 "mismatch": false | 3151 "mismatch": false, |
| 3152 "warnings": [] | |
| 2702 } | 3153 } |
| 2703 ], | 3154 ], |
| 2704 "highlightedVariants": [] | 3155 "highlightedVariants": [] |
| 2705 }, | 3156 }, |
| 2706 { | 3157 { |
| 2707 "geneSymbol": "CYP2D6", | 3158 "geneSymbol": "CYP2D6", |
| 2708 "chr": null, | 3159 "chr": null, |
| 2709 "phased": false, | 3160 "phased": false, |
| 2710 "callSource": "OUTSIDE", | 3161 "callSource": "OUTSIDE", |
| 2711 "uncalledHaplotypes": [], | 3162 "uncalledHaplotypes": [], |
| 2712 "messages": [ | 3163 "messages": [], |
| 2713 { | |
| 2714 "rule_name": "CYP2D6 warning", | |
| 2715 "version": "1", | |
| 2716 "matches": { | |
| 2717 "gene": "CYP2D6", | |
| 2718 "hapsCalled": [], | |
| 2719 "hapsMissing": [], | |
| 2720 "variantsMissing": [], | |
| 2721 "variant": "", | |
| 2722 "dips": [], | |
| 2723 "drugs": [] | |
| 2724 }, | |
| 2725 "exception_type": "note", | |
| 2726 "message": "CYP2D6 genotypes are called by a separate algorithm from other genes in the PharmCAT report. Please refer to \u003ca href\u003d\"https://github.com/PharmGKB/PharmCAT/wiki/Determining-Alleles\"\u003ethe PharmCAT wiki\u003c/a\u003e for more information." | |
| 2727 } | |
| 2728 ], | |
| 2729 "relatedDrugs": [], | 3164 "relatedDrugs": [], |
| 2730 "matcherDiplotypes": [ | 3165 "matcherDiplotypes": [], |
| 3166 "diplotypes": [ | |
| 2731 { | 3167 { |
| 2732 "allele1": { | 3168 "allele1": { |
| 2733 "gene": "CYP2D6", | 3169 "gene": "CYP2D6", |
| 2734 "name": "*1", | 3170 "name": "*1", |
| 2735 "function": "Normal function", | 3171 "function": "Normal function", |
| 2740 "name": "*3", | 3176 "name": "*3", |
| 2741 "function": "No function", | 3177 "function": "No function", |
| 2742 "reference": false | 3178 "reference": false |
| 2743 }, | 3179 }, |
| 2744 "gene": "CYP2D6", | 3180 "gene": "CYP2D6", |
| 2745 "phenotype": "Intermediate Metabolizer", | 3181 "phenotypes": [ |
| 3182 "Intermediate Metabolizer" | |
| 3183 ], | |
| 2746 "variant": null, | 3184 "variant": null, |
| 2747 "lookupKey": "1", | 3185 "lookupKey": [ |
| 2748 "label": "*1/*3" | 3186 "1" |
| 2749 } | 3187 ], |
| 2750 ], | |
| 2751 "diplotypes": [ | |
| 2752 { | |
| 2753 "allele1": { | |
| 2754 "gene": "CYP2D6", | |
| 2755 "name": "*1", | |
| 2756 "function": "Normal function", | |
| 2757 "reference": true | |
| 2758 }, | |
| 2759 "allele2": { | |
| 2760 "gene": "CYP2D6", | |
| 2761 "name": "*3", | |
| 2762 "function": "No function", | |
| 2763 "reference": false | |
| 2764 }, | |
| 2765 "gene": "CYP2D6", | |
| 2766 "phenotype": "Intermediate Metabolizer", | |
| 2767 "variant": null, | |
| 2768 "lookupKey": "1", | |
| 2769 "label": "*1/*3" | 3188 "label": "*1/*3" |
| 2770 } | 3189 } |
| 2771 ], | 3190 ], |
| 2772 "variants": [], | 3191 "variants": [], |
| 2773 "variantsOfInterest": [], | 3192 "variantsOfInterest": [], |
| 2810 "name": "*1", | 3229 "name": "*1", |
| 2811 "function": "Normal function", | 3230 "function": "Normal function", |
| 2812 "reference": true | 3231 "reference": true |
| 2813 }, | 3232 }, |
| 2814 "gene": "CYP3A5", | 3233 "gene": "CYP3A5", |
| 2815 "phenotype": "Normal Metabolizer", | 3234 "phenotypes": [ |
| 3235 "Normal Metabolizer" | |
| 3236 ], | |
| 2816 "variant": null, | 3237 "variant": null, |
| 2817 "lookupKey": "Normal Metabolizer", | 3238 "lookupKey": [ |
| 3239 "Normal Metabolizer" | |
| 3240 ], | |
| 2818 "label": "*1/*1" | 3241 "label": "*1/*1" |
| 2819 } | 3242 } |
| 2820 ], | 3243 ], |
| 2821 "diplotypes": [ | 3244 "diplotypes": [ |
| 2822 { | 3245 { |
| 2831 "name": "*1", | 3254 "name": "*1", |
| 2832 "function": "Normal function", | 3255 "function": "Normal function", |
| 2833 "reference": true | 3256 "reference": true |
| 2834 }, | 3257 }, |
| 2835 "gene": "CYP3A5", | 3258 "gene": "CYP3A5", |
| 2836 "phenotype": "Normal Metabolizer", | 3259 "phenotypes": [ |
| 3260 "Normal Metabolizer" | |
| 3261 ], | |
| 2837 "variant": null, | 3262 "variant": null, |
| 2838 "lookupKey": "Normal Metabolizer", | 3263 "lookupKey": [ |
| 3264 "Normal Metabolizer" | |
| 3265 ], | |
| 2839 "label": "*1/*1" | 3266 "label": "*1/*1" |
| 2840 } | 3267 } |
| 2841 ], | 3268 ], |
| 2842 "variants": [ | 3269 "variants": [ |
| 2843 { | |
| 2844 "gene": "CYP3A5", | |
| 2845 "chromosome": "chr7", | |
| 2846 "position": 99652613, | |
| 2847 "dbSnpId": "rs28365083", | |
| 2848 "call": "G|G", | |
| 2849 "alleles": [ | |
| 2850 "*2", | |
| 2851 "*3" | |
| 2852 ], | |
| 2853 "phased": true, | |
| 2854 "wildtypeAllele": "G", | |
| 2855 "mismatch": false | |
| 2856 }, | |
| 2857 { | 3270 { |
| 2858 "gene": "CYP3A5", | 3271 "gene": "CYP3A5", |
| 2859 "chromosome": "chr7", | 3272 "chromosome": "chr7", |
| 2860 "position": 99652770, | 3273 "position": 99652770, |
| 2861 "dbSnpId": "rs41303343", | 3274 "dbSnpId": "rs41303343", |
| 2863 "alleles": [ | 3276 "alleles": [ |
| 2864 "*7" | 3277 "*7" |
| 2865 ], | 3278 ], |
| 2866 "phased": true, | 3279 "phased": true, |
| 2867 "wildtypeAllele": "T", | 3280 "wildtypeAllele": "T", |
| 2868 "mismatch": false | 3281 "mismatch": false, |
| 3282 "warnings": [] | |
| 2869 }, | 3283 }, |
| 2870 { | 3284 { |
| 2871 "gene": "CYP3A5", | 3285 "gene": "CYP3A5", |
| 2872 "chromosome": "chr7", | 3286 "chromosome": "chr7", |
| 2873 "position": 99660516, | 3287 "position": 99660516, |
| 2874 "dbSnpId": "rs28383479", | 3288 "dbSnpId": "rs28383479", |
| 2875 "call": "C|C", | 3289 "call": "C|C", |
| 2876 "alleles": [ | 3290 "alleles": [ |
| 2877 "*3", | |
| 2878 "*9" | 3291 "*9" |
| 2879 ], | 3292 ], |
| 2880 "phased": true, | 3293 "phased": true, |
| 2881 "wildtypeAllele": "C", | 3294 "wildtypeAllele": "C", |
| 2882 "mismatch": false | 3295 "mismatch": false, |
| 3296 "warnings": [] | |
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| 3116 { | 3516 { |
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| 3129 { | 3530 { |
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| 3142 { | 3544 { |
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| 3155 { | 3558 { |
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| 3194 { | 3600 { |
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| 3220 { | 3628 { |
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| 3233 { | 3642 { |
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| 3272 { | 3684 { |
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| 3308 "wildtypeAllele": "T", | 3722 "wildtypeAllele": "T", |
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| 3311 { | 3726 { |
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| 3318 "c.2482G\u003eA" | 3733 "c.2482G\u003eA" |
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| 3324 { | 3740 { |
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| 3350 { | 3768 { |
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| 3376 { | 3796 { |
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| 3389 { | 3810 { |
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| 3402 { | 3824 { |
| 3403 "gene": "DPYD", | 3825 "gene": "DPYD", |
| 3404 "chromosome": "chr1", | 3826 "chromosome": "chr1", |
| 3405 "position": 97306195, | 3827 "position": 97306195, |
| 3408 "alleles": [ | 3830 "alleles": [ |
| 3409 "c.2161G\u003eA" | 3831 "c.2161G\u003eA" |
| 3410 ], | 3832 ], |
| 3411 "phased": true, | 3833 "phased": true, |
| 3412 "wildtypeAllele": "C", | 3834 "wildtypeAllele": "C", |
| 3413 "mismatch": false | 3835 "mismatch": false, |
| 3836 "warnings": [] | |
| 3414 }, | 3837 }, |
| 3415 { | 3838 { |
| 3416 "gene": "DPYD", | 3839 "gene": "DPYD", |
| 3417 "chromosome": "chr1", | 3840 "chromosome": "chr1", |
| 3418 "position": 97373598, | 3841 "position": 97373598, |
| 3421 "alleles": [ | 3844 "alleles": [ |
| 3422 "c.2021G\u003eA" | 3845 "c.2021G\u003eA" |
| 3423 ], | 3846 ], |
| 3424 "phased": true, | 3847 "phased": true, |
| 3425 "wildtypeAllele": "C", | 3848 "wildtypeAllele": "C", |
| 3426 "mismatch": false | 3849 "mismatch": false, |
| 3850 "warnings": [] | |
| 3427 }, | 3851 }, |
| 3428 { | 3852 { |
| 3429 "gene": "DPYD", | 3853 "gene": "DPYD", |
| 3430 "chromosome": "chr1", | 3854 "chromosome": "chr1", |
| 3431 "position": 97373629, | 3855 "position": 97373629, |
| 3434 "alleles": [ | 3858 "alleles": [ |
| 3435 "c.1990G\u003eT" | 3859 "c.1990G\u003eT" |
| 3436 ], | 3860 ], |
| 3437 "phased": true, | 3861 "phased": true, |
| 3438 "wildtypeAllele": "C", | 3862 "wildtypeAllele": "C", |
| 3439 "mismatch": false | 3863 "mismatch": false, |
| 3864 "warnings": [] | |
| 3440 }, | 3865 }, |
| 3441 { | 3866 { |
| 3442 "gene": "DPYD", | 3867 "gene": "DPYD", |
| 3443 "chromosome": "chr1", | 3868 "chromosome": "chr1", |
| 3444 "position": 97382461, | 3869 "position": 97382461, |
| 3447 "alleles": [ | 3872 "alleles": [ |
| 3448 "c.1906A\u003eC" | 3873 "c.1906A\u003eC" |
| 3449 ], | 3874 ], |
| 3450 "phased": true, | 3875 "phased": true, |
| 3451 "wildtypeAllele": "T", | 3876 "wildtypeAllele": "T", |
| 3452 "mismatch": false | 3877 "mismatch": false, |
| 3878 "warnings": [] | |
| 3453 }, | 3879 }, |
| 3454 { | 3880 { |
| 3455 "gene": "DPYD", | 3881 "gene": "DPYD", |
| 3456 "chromosome": "chr1", | 3882 "chromosome": "chr1", |
| 3457 "position": 97450058, | 3883 "position": 97450058, |
| 3460 "alleles": [ | 3886 "alleles": [ |
| 3461 "c.1905+1G\u003eA (*2A)" | 3887 "c.1905+1G\u003eA (*2A)" |
| 3462 ], | 3888 ], |
| 3463 "phased": true, | 3889 "phased": true, |
| 3464 "wildtypeAllele": "C", | 3890 "wildtypeAllele": "C", |
| 3465 "mismatch": false | 3891 "mismatch": false, |
| 3892 "warnings": [] | |
| 3466 }, | 3893 }, |
| 3467 { | 3894 { |
| 3468 "gene": "DPYD", | 3895 "gene": "DPYD", |
| 3469 "chromosome": "chr1", | 3896 "chromosome": "chr1", |
| 3470 "position": 97450059, | 3897 "position": 97450059, |
| 3473 "alleles": [ | 3900 "alleles": [ |
| 3474 "c.1905C\u003eG" | 3901 "c.1905C\u003eG" |
| 3475 ], | 3902 ], |
| 3476 "phased": true, | 3903 "phased": true, |
| 3477 "wildtypeAllele": "G", | 3904 "wildtypeAllele": "G", |
| 3478 "mismatch": false | 3905 "mismatch": false, |
| 3906 "warnings": [] | |
| 3479 }, | 3907 }, |
| 3480 { | 3908 { |
| 3481 "gene": "DPYD", | 3909 "gene": "DPYD", |
| 3482 "chromosome": "chr1", | 3910 "chromosome": "chr1", |
| 3483 "position": 97450065, | 3911 "position": 97450065, |
| 3486 "alleles": [ | 3914 "alleles": [ |
| 3487 "c.1898delC (*3)" | 3915 "c.1898delC (*3)" |
| 3488 ], | 3916 ], |
| 3489 "phased": true, | 3917 "phased": true, |
| 3490 "wildtypeAllele": "TG", | 3918 "wildtypeAllele": "TG", |
| 3491 "mismatch": false | 3919 "mismatch": false, |
| 3920 "warnings": [] | |
| 3492 }, | 3921 }, |
| 3493 { | 3922 { |
| 3494 "gene": "DPYD", | 3923 "gene": "DPYD", |
| 3495 "chromosome": "chr1", | 3924 "chromosome": "chr1", |
| 3496 "position": 97450068, | 3925 "position": 97450068, |
| 3499 "alleles": [ | 3928 "alleles": [ |
| 3500 "c.1896T\u003eC" | 3929 "c.1896T\u003eC" |
| 3501 ], | 3930 ], |
| 3502 "phased": true, | 3931 "phased": true, |
| 3503 "wildtypeAllele": "A", | 3932 "wildtypeAllele": "A", |
| 3504 "mismatch": false | 3933 "mismatch": false, |
| 3934 "warnings": [] | |
| 3505 }, | 3935 }, |
| 3506 { | 3936 { |
| 3507 "gene": "DPYD", | 3937 "gene": "DPYD", |
| 3508 "chromosome": "chr1", | 3938 "chromosome": "chr1", |
| 3509 "position": 97450168, | 3939 "position": 97450168, |
| 3512 "alleles": [ | 3942 "alleles": [ |
| 3513 "c.1796T\u003eC" | 3943 "c.1796T\u003eC" |
| 3514 ], | 3944 ], |
| 3515 "phased": true, | 3945 "phased": true, |
| 3516 "wildtypeAllele": "A", | 3946 "wildtypeAllele": "A", |
| 3517 "mismatch": false | 3947 "mismatch": false, |
| 3948 "warnings": [] | |
| 3518 }, | 3949 }, |
| 3519 { | 3950 { |
| 3520 "gene": "DPYD", | 3951 "gene": "DPYD", |
| 3521 "chromosome": "chr1", | 3952 "chromosome": "chr1", |
| 3522 "position": 97450187, | 3953 "position": 97450187, |
| 3525 "alleles": [ | 3956 "alleles": [ |
| 3526 "c.1777G\u003eA" | 3957 "c.1777G\u003eA" |
| 3527 ], | 3958 ], |
| 3528 "phased": true, | 3959 "phased": true, |
| 3529 "wildtypeAllele": "C", | 3960 "wildtypeAllele": "C", |
| 3530 "mismatch": false | 3961 "mismatch": false, |
| 3962 "warnings": [] | |
| 3531 }, | 3963 }, |
| 3532 { | 3964 { |
| 3533 "gene": "DPYD", | 3965 "gene": "DPYD", |
| 3534 "chromosome": "chr1", | 3966 "chromosome": "chr1", |
| 3535 "position": 97450189, | 3967 "position": 97450189, |
| 3538 "alleles": [ | 3970 "alleles": [ |
| 3539 "c.1775G\u003eA" | 3971 "c.1775G\u003eA" |
| 3540 ], | 3972 ], |
| 3541 "phased": true, | 3973 "phased": true, |
| 3542 "wildtypeAllele": "C", | 3974 "wildtypeAllele": "C", |
| 3543 "mismatch": false | 3975 "mismatch": false, |
| 3976 "warnings": [] | |
| 3544 }, | 3977 }, |
| 3545 { | 3978 { |
| 3546 "gene": "DPYD", | 3979 "gene": "DPYD", |
| 3547 "chromosome": "chr1", | 3980 "chromosome": "chr1", |
| 3548 "position": 97450190, | 3981 "position": 97450190, |
| 3551 "alleles": [ | 3984 "alleles": [ |
| 3552 "c.1774C\u003eT" | 3985 "c.1774C\u003eT" |
| 3553 ], | 3986 ], |
| 3554 "phased": true, | 3987 "phased": true, |
| 3555 "wildtypeAllele": "G", | 3988 "wildtypeAllele": "G", |
| 3556 "mismatch": false | 3989 "mismatch": false, |
| 3990 "warnings": [] | |
| 3557 }, | 3991 }, |
| 3558 { | 3992 { |
| 3559 "gene": "DPYD", | 3993 "gene": "DPYD", |
| 3560 "chromosome": "chr1", | 3994 "chromosome": "chr1", |
| 3561 "position": 97515784, | 3995 "position": 97515784, |
| 3564 "alleles": [ | 3998 "alleles": [ |
| 3565 "c.1682G\u003eT" | 3999 "c.1682G\u003eT" |
| 3566 ], | 4000 ], |
| 3567 "phased": true, | 4001 "phased": true, |
| 3568 "wildtypeAllele": "C", | 4002 "wildtypeAllele": "C", |
| 3569 "mismatch": false | 4003 "mismatch": false, |
| 4004 "warnings": [] | |
| 3570 }, | 4005 }, |
| 3571 { | 4006 { |
| 3572 "gene": "DPYD", | 4007 "gene": "DPYD", |
| 3573 "chromosome": "chr1", | 4008 "chromosome": "chr1", |
| 3574 "position": 97515787, | 4009 "position": 97515787, |
| 3577 "alleles": [ | 4012 "alleles": [ |
| 3578 "c.1679T\u003eG (*13)" | 4013 "c.1679T\u003eG (*13)" |
| 3579 ], | 4014 ], |
| 3580 "phased": true, | 4015 "phased": true, |
| 3581 "wildtypeAllele": "A", | 4016 "wildtypeAllele": "A", |
| 3582 "mismatch": false | 4017 "mismatch": false, |
| 4018 "warnings": [] | |
| 3583 }, | 4019 }, |
| 3584 { | 4020 { |
| 3585 "gene": "DPYD", | 4021 "gene": "DPYD", |
| 3586 "chromosome": "chr1", | 4022 "chromosome": "chr1", |
| 3587 "position": 97515839, | 4023 "position": 97515839, |
| 3590 "alleles": [ | 4026 "alleles": [ |
| 3591 "c.1627A\u003eG (*5)" | 4027 "c.1627A\u003eG (*5)" |
| 3592 ], | 4028 ], |
| 3593 "phased": true, | 4029 "phased": true, |
| 3594 "wildtypeAllele": "T", | 4030 "wildtypeAllele": "T", |
| 3595 "mismatch": false | 4031 "mismatch": false, |
| 4032 "warnings": [] | |
| 3596 }, | 4033 }, |
| 3597 { | 4034 { |
| 3598 "gene": "DPYD", | 4035 "gene": "DPYD", |
| 3599 "chromosome": "chr1", | 4036 "chromosome": "chr1", |
| 3600 "position": 97515851, | 4037 "position": 97515851, |
| 3603 "alleles": [ | 4040 "alleles": [ |
| 3604 "c.1615G\u003eA" | 4041 "c.1615G\u003eA" |
| 3605 ], | 4042 ], |
| 3606 "phased": true, | 4043 "phased": true, |
| 3607 "wildtypeAllele": "C", | 4044 "wildtypeAllele": "C", |
| 3608 "mismatch": false | 4045 "mismatch": false, |
| 4046 "warnings": [] | |
| 3609 }, | 4047 }, |
| 3610 { | 4048 { |
| 3611 "gene": "DPYD", | 4049 "gene": "DPYD", |
| 3612 "chromosome": "chr1", | 4050 "chromosome": "chr1", |
| 3613 "position": 97515865, | 4051 "position": 97515865, |
| 3616 "alleles": [ | 4054 "alleles": [ |
| 3617 "c.1601G\u003eA (*4)" | 4055 "c.1601G\u003eA (*4)" |
| 3618 ], | 4056 ], |
| 3619 "phased": true, | 4057 "phased": true, |
| 3620 "wildtypeAllele": "C", | 4058 "wildtypeAllele": "C", |
| 3621 "mismatch": false | 4059 "mismatch": false, |
| 4060 "warnings": [] | |
| 3622 }, | 4061 }, |
| 3623 { | 4062 { |
| 3624 "gene": "DPYD", | 4063 "gene": "DPYD", |
| 3625 "chromosome": "chr1", | 4064 "chromosome": "chr1", |
| 3626 "position": 97515889, | 4065 "position": 97515889, |
| 3629 "alleles": [ | 4068 "alleles": [ |
| 3630 "c.1577C\u003eG" | 4069 "c.1577C\u003eG" |
| 3631 ], | 4070 ], |
| 3632 "phased": true, | 4071 "phased": true, |
| 3633 "wildtypeAllele": "G", | 4072 "wildtypeAllele": "G", |
| 3634 "mismatch": false | 4073 "mismatch": false, |
| 4074 "warnings": [] | |
| 3635 }, | 4075 }, |
| 3636 { | 4076 { |
| 3637 "gene": "DPYD", | 4077 "gene": "DPYD", |
| 3638 "chromosome": "chr1", | 4078 "chromosome": "chr1", |
| 3639 "position": 97515923, | 4079 "position": 97515923, |
| 3642 "alleles": [ | 4082 "alleles": [ |
| 3643 "c.1543G\u003eA" | 4083 "c.1543G\u003eA" |
| 3644 ], | 4084 ], |
| 3645 "phased": true, | 4085 "phased": true, |
| 3646 "wildtypeAllele": "C", | 4086 "wildtypeAllele": "C", |
| 3647 "mismatch": false | 4087 "mismatch": false, |
| 4088 "warnings": [] | |
| 3648 }, | 4089 }, |
| 3649 { | 4090 { |
| 3650 "gene": "DPYD", | 4091 "gene": "DPYD", |
| 3651 "chromosome": "chr1", | 4092 "chromosome": "chr1", |
| 3652 "position": 97549565, | 4093 "position": 97549565, |
| 3655 "alleles": [ | 4096 "alleles": [ |
| 3656 "c.1519G\u003eA" | 4097 "c.1519G\u003eA" |
| 3657 ], | 4098 ], |
| 3658 "phased": true, | 4099 "phased": true, |
| 3659 "wildtypeAllele": "C", | 4100 "wildtypeAllele": "C", |
| 3660 "mismatch": false | 4101 "mismatch": false, |
| 4102 "warnings": [] | |
| 3661 }, | 4103 }, |
| 3662 { | 4104 { |
| 3663 "gene": "DPYD", | 4105 "gene": "DPYD", |
| 3664 "chromosome": "chr1", | 4106 "chromosome": "chr1", |
| 3665 "position": 97549600, | 4107 "position": 97549600, |
| 3668 "alleles": [ | 4110 "alleles": [ |
| 3669 "c.1484A\u003eG" | 4111 "c.1484A\u003eG" |
| 3670 ], | 4112 ], |
| 3671 "phased": true, | 4113 "phased": true, |
| 3672 "wildtypeAllele": "T", | 4114 "wildtypeAllele": "T", |
| 3673 "mismatch": false | 4115 "mismatch": false, |
| 4116 "warnings": [] | |
| 3674 }, | 4117 }, |
| 3675 { | 4118 { |
| 3676 "gene": "DPYD", | 4119 "gene": "DPYD", |
| 3677 "chromosome": "chr1", | 4120 "chromosome": "chr1", |
| 3678 "position": 97549609, | 4121 "position": 97549609, |
| 3681 "alleles": [ | 4124 "alleles": [ |
| 3682 "c.1475C\u003eT" | 4125 "c.1475C\u003eT" |
| 3683 ], | 4126 ], |
| 3684 "phased": true, | 4127 "phased": true, |
| 3685 "wildtypeAllele": "G", | 4128 "wildtypeAllele": "G", |
| 3686 "mismatch": false | 4129 "mismatch": false, |
| 4130 "warnings": [] | |
| 3687 }, | 4131 }, |
| 3688 { | 4132 { |
| 3689 "gene": "DPYD", | 4133 "gene": "DPYD", |
| 3690 "chromosome": "chr1", | 4134 "chromosome": "chr1", |
| 3691 "position": 97549681, | 4135 "position": 97549681, |
| 3694 "alleles": [ | 4138 "alleles": [ |
| 3695 "c.1403C\u003eA" | 4139 "c.1403C\u003eA" |
| 3696 ], | 4140 ], |
| 3697 "phased": true, | 4141 "phased": true, |
| 3698 "wildtypeAllele": "G", | 4142 "wildtypeAllele": "G", |
| 3699 "mismatch": false | 4143 "mismatch": false, |
| 4144 "warnings": [] | |
| 3700 }, | 4145 }, |
| 3701 { | 4146 { |
| 3702 "gene": "DPYD", | 4147 "gene": "DPYD", |
| 3703 "chromosome": "chr1", | 4148 "chromosome": "chr1", |
| 3704 "position": 97549713, | 4149 "position": 97549713, |
| 3707 "alleles": [ | 4152 "alleles": [ |
| 3708 "c.1371C\u003eT" | 4153 "c.1371C\u003eT" |
| 3709 ], | 4154 ], |
| 3710 "phased": true, | 4155 "phased": true, |
| 3711 "wildtypeAllele": "G", | 4156 "wildtypeAllele": "G", |
| 3712 "mismatch": false | 4157 "mismatch": false, |
| 4158 "warnings": [] | |
| 3713 }, | 4159 }, |
| 3714 { | 4160 { |
| 3715 "gene": "DPYD", | 4161 "gene": "DPYD", |
| 3716 "chromosome": "chr1", | 4162 "chromosome": "chr1", |
| 3717 "position": 97549726, | 4163 "position": 97549726, |
| 3720 "alleles": [ | 4166 "alleles": [ |
| 3721 "c.1358C\u003eG" | 4167 "c.1358C\u003eG" |
| 3722 ], | 4168 ], |
| 3723 "phased": true, | 4169 "phased": true, |
| 3724 "wildtypeAllele": "G", | 4170 "wildtypeAllele": "G", |
| 3725 "mismatch": false | 4171 "mismatch": false, |
| 4172 "warnings": [] | |
| 3726 }, | 4173 }, |
| 3727 { | 4174 { |
| 3728 "gene": "DPYD", | 4175 "gene": "DPYD", |
| 3729 "chromosome": "chr1", | 4176 "chromosome": "chr1", |
| 3730 "position": 97549735, | 4177 "position": 97549735, |
| 3733 "alleles": [ | 4180 "alleles": [ |
| 3734 "c.1349C\u003eT" | 4181 "c.1349C\u003eT" |
| 3735 ], | 4182 ], |
| 3736 "phased": true, | 4183 "phased": true, |
| 3737 "wildtypeAllele": "G", | 4184 "wildtypeAllele": "G", |
| 3738 "mismatch": false | 4185 "mismatch": false, |
| 4186 "warnings": [] | |
| 3739 }, | 4187 }, |
| 3740 { | 4188 { |
| 3741 "gene": "DPYD", | 4189 "gene": "DPYD", |
| 3742 "chromosome": "chr1", | 4190 "chromosome": "chr1", |
| 3743 "position": 97573785, | 4191 "position": 97573785, |
| 3746 "alleles": [ | 4194 "alleles": [ |
| 3747 "c.1314T\u003eG" | 4195 "c.1314T\u003eG" |
| 3748 ], | 4196 ], |
| 3749 "phased": true, | 4197 "phased": true, |
| 3750 "wildtypeAllele": "A", | 4198 "wildtypeAllele": "A", |
| 3751 "mismatch": false | 4199 "mismatch": false, |
| 4200 "warnings": [] | |
| 3752 }, | 4201 }, |
| 3753 { | 4202 { |
| 3754 "gene": "DPYD", | 4203 "gene": "DPYD", |
| 3755 "chromosome": "chr1", | 4204 "chromosome": "chr1", |
| 3756 "position": 97573805, | 4205 "position": 97573805, |
| 3759 "alleles": [ | 4208 "alleles": [ |
| 3760 "c.1294G\u003eA" | 4209 "c.1294G\u003eA" |
| 3761 ], | 4210 ], |
| 3762 "phased": true, | 4211 "phased": true, |
| 3763 "wildtypeAllele": "C", | 4212 "wildtypeAllele": "C", |
| 3764 "mismatch": false | 4213 "mismatch": false, |
| 4214 "warnings": [] | |
| 3765 }, | 4215 }, |
| 3766 { | 4216 { |
| 3767 "gene": "DPYD", | 4217 "gene": "DPYD", |
| 3768 "chromosome": "chr1", | 4218 "chromosome": "chr1", |
| 3769 "position": 97573821, | 4219 "position": 97573821, |
| 3772 "alleles": [ | 4222 "alleles": [ |
| 3773 "c.1278G\u003eT" | 4223 "c.1278G\u003eT" |
| 3774 ], | 4224 ], |
| 3775 "phased": true, | 4225 "phased": true, |
| 3776 "wildtypeAllele": "C", | 4226 "wildtypeAllele": "C", |
| 3777 "mismatch": false | 4227 "mismatch": false, |
| 4228 "warnings": [] | |
| 3778 }, | 4229 }, |
| 3779 { | 4230 { |
| 3780 "gene": "DPYD", | 4231 "gene": "DPYD", |
| 3781 "chromosome": "chr1", | 4232 "chromosome": "chr1", |
| 3782 "position": 97573839, | 4233 "position": 97573839, |
| 3785 "alleles": [ | 4236 "alleles": [ |
| 3786 "c.1260T\u003eA" | 4237 "c.1260T\u003eA" |
| 3787 ], | 4238 ], |
| 3788 "phased": true, | 4239 "phased": true, |
| 3789 "wildtypeAllele": "A", | 4240 "wildtypeAllele": "A", |
| 3790 "mismatch": false | 4241 "mismatch": false, |
| 4242 "warnings": [] | |
| 3791 }, | 4243 }, |
| 3792 { | 4244 { |
| 3793 "gene": "DPYD", | 4245 "gene": "DPYD", |
| 3794 "chromosome": "chr1", | 4246 "chromosome": "chr1", |
| 3795 "position": 97573863, | 4247 "position": 97573863, |
| 3798 "alleles": [ | 4250 "alleles": [ |
| 3799 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4251 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
| 3800 ], | 4252 ], |
| 3801 "phased": true, | 4253 "phased": true, |
| 3802 "wildtypeAllele": "C", | 4254 "wildtypeAllele": "C", |
| 3803 "mismatch": false | 4255 "mismatch": false, |
| 4256 "warnings": [] | |
| 3804 }, | 4257 }, |
| 3805 { | 4258 { |
| 3806 "gene": "DPYD", | 4259 "gene": "DPYD", |
| 3807 "chromosome": "chr1", | 4260 "chromosome": "chr1", |
| 3808 "position": 97573881, | 4261 "position": 97573881, |
| 3811 "alleles": [ | 4264 "alleles": [ |
| 3812 "c.1218G\u003eA" | 4265 "c.1218G\u003eA" |
| 3813 ], | 4266 ], |
| 3814 "phased": true, | 4267 "phased": true, |
| 3815 "wildtypeAllele": "C", | 4268 "wildtypeAllele": "C", |
| 3816 "mismatch": false | 4269 "mismatch": false, |
| 4270 "warnings": [] | |
| 3817 }, | 4271 }, |
| 3818 { | 4272 { |
| 3819 "gene": "DPYD", | 4273 "gene": "DPYD", |
| 3820 "chromosome": "chr1", | 4274 "chromosome": "chr1", |
| 3821 "position": 97573918, | 4275 "position": 97573918, |
| 3824 "alleles": [ | 4278 "alleles": [ |
| 3825 "c.1181G\u003eT" | 4279 "c.1181G\u003eT" |
| 3826 ], | 4280 ], |
| 3827 "phased": true, | 4281 "phased": true, |
| 3828 "wildtypeAllele": "C", | 4282 "wildtypeAllele": "C", |
| 3829 "mismatch": false | 4283 "mismatch": false, |
| 4284 "warnings": [] | |
| 3830 }, | 4285 }, |
| 3831 { | 4286 { |
| 3832 "gene": "DPYD", | 4287 "gene": "DPYD", |
| 3833 "chromosome": "chr1", | 4288 "chromosome": "chr1", |
| 3834 "position": 97573919, | 4289 "position": 97573919, |
| 3837 "alleles": [ | 4292 "alleles": [ |
| 3838 "c.1180C\u003eT" | 4293 "c.1180C\u003eT" |
| 3839 ], | 4294 ], |
| 3840 "phased": true, | 4295 "phased": true, |
| 3841 "wildtypeAllele": "G", | 4296 "wildtypeAllele": "G", |
| 3842 "mismatch": false | 4297 "mismatch": false, |
| 4298 "warnings": [] | |
| 3843 }, | 4299 }, |
| 3844 { | 4300 { |
| 3845 "gene": "DPYD", | 4301 "gene": "DPYD", |
| 3846 "chromosome": "chr1", | 4302 "chromosome": "chr1", |
| 3847 "position": 97573943, | 4303 "position": 97573943, |
| 3850 "alleles": [ | 4306 "alleles": [ |
| 3851 "c.1156G\u003eT (*12)" | 4307 "c.1156G\u003eT (*12)" |
| 3852 ], | 4308 ], |
| 3853 "phased": true, | 4309 "phased": true, |
| 3854 "wildtypeAllele": "C", | 4310 "wildtypeAllele": "C", |
| 3855 "mismatch": false | 4311 "mismatch": false, |
| 4312 "warnings": [] | |
| 3856 }, | 4313 }, |
| 3857 { | 4314 { |
| 3858 "gene": "DPYD", | 4315 "gene": "DPYD", |
| 3859 "chromosome": "chr1", | 4316 "chromosome": "chr1", |
| 3860 "position": 97579893, | 4317 "position": 97579893, |
| 3863 "alleles": [ | 4320 "alleles": [ |
| 3864 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" | 4321 "c.1129-5923C\u003eG, c.1236G\u003eA (HapB3)" |
| 3865 ], | 4322 ], |
| 3866 "phased": true, | 4323 "phased": true, |
| 3867 "wildtypeAllele": "G", | 4324 "wildtypeAllele": "G", |
| 3868 "mismatch": false | 4325 "mismatch": false, |
| 4326 "warnings": [] | |
| 3869 }, | 4327 }, |
| 3870 { | 4328 { |
| 3871 "gene": "DPYD", | 4329 "gene": "DPYD", |
| 3872 "chromosome": "chr1", | 4330 "chromosome": "chr1", |
| 3873 "position": 97593238, | 4331 "position": 97593238, |
| 3876 "alleles": [ | 4334 "alleles": [ |
| 3877 "c.1108A\u003eG" | 4335 "c.1108A\u003eG" |
| 3878 ], | 4336 ], |
| 3879 "phased": true, | 4337 "phased": true, |
| 3880 "wildtypeAllele": "T", | 4338 "wildtypeAllele": "T", |
| 3881 "mismatch": false | 4339 "mismatch": false, |
| 4340 "warnings": [] | |
| 3882 }, | 4341 }, |
| 3883 { | 4342 { |
| 3884 "gene": "DPYD", | 4343 "gene": "DPYD", |
| 3885 "chromosome": "chr1", | 4344 "chromosome": "chr1", |
| 3886 "position": 97593289, | 4345 "position": 97593289, |
| 3889 "alleles": [ | 4348 "alleles": [ |
| 3890 "c.1057C\u003eT" | 4349 "c.1057C\u003eT" |
| 3891 ], | 4350 ], |
| 3892 "phased": true, | 4351 "phased": true, |
| 3893 "wildtypeAllele": "G", | 4352 "wildtypeAllele": "G", |
| 3894 "mismatch": false | 4353 "mismatch": false, |
| 4354 "warnings": [] | |
| 3895 }, | 4355 }, |
| 3896 { | 4356 { |
| 3897 "gene": "DPYD", | 4357 "gene": "DPYD", |
| 3898 "chromosome": "chr1", | 4358 "chromosome": "chr1", |
| 3899 "position": 97593322, | 4359 "position": 97593322, |
| 3902 "alleles": [ | 4362 "alleles": [ |
| 3903 "c.1024G\u003eA" | 4363 "c.1024G\u003eA" |
| 3904 ], | 4364 ], |
| 3905 "phased": true, | 4365 "phased": true, |
| 3906 "wildtypeAllele": "C", | 4366 "wildtypeAllele": "C", |
| 3907 "mismatch": false | 4367 "mismatch": false, |
| 4368 "warnings": [] | |
| 3908 }, | 4369 }, |
| 3909 { | 4370 { |
| 3910 "gene": "DPYD", | 4371 "gene": "DPYD", |
| 3911 "chromosome": "chr1", | 4372 "chromosome": "chr1", |
| 3912 "position": 97593343, | 4373 "position": 97593343, |
| 3915 "alleles": [ | 4376 "alleles": [ |
| 3916 "c.1003G\u003eT (*11)" | 4377 "c.1003G\u003eT (*11)" |
| 3917 ], | 4378 ], |
| 3918 "phased": true, | 4379 "phased": true, |
| 3919 "wildtypeAllele": "C", | 4380 "wildtypeAllele": "C", |
| 3920 "mismatch": false | 4381 "mismatch": false, |
| 4382 "warnings": [] | |
| 3921 }, | 4383 }, |
| 3922 { | 4384 { |
| 3923 "gene": "DPYD", | 4385 "gene": "DPYD", |
| 3924 "chromosome": "chr1", | 4386 "chromosome": "chr1", |
| 3925 "position": 97593379, | 4387 "position": 97593379, |
| 3928 "alleles": [ | 4390 "alleles": [ |
| 3929 "c.967G\u003eA" | 4391 "c.967G\u003eA" |
| 3930 ], | 4392 ], |
| 3931 "phased": true, | 4393 "phased": true, |
| 3932 "wildtypeAllele": "C", | 4394 "wildtypeAllele": "C", |
| 3933 "mismatch": false | 4395 "mismatch": false, |
| 4396 "warnings": [] | |
| 3934 }, | 4397 }, |
| 3935 { | 4398 { |
| 3936 "gene": "DPYD", | 4399 "gene": "DPYD", |
| 3937 "chromosome": "chr1", | 4400 "chromosome": "chr1", |
| 3938 "position": 97595083, | 4401 "position": 97595083, |
| 3941 "alleles": [ | 4404 "alleles": [ |
| 3942 "c.934C\u003eT" | 4405 "c.934C\u003eT" |
| 3943 ], | 4406 ], |
| 3944 "phased": true, | 4407 "phased": true, |
| 3945 "wildtypeAllele": "G", | 4408 "wildtypeAllele": "G", |
| 3946 "mismatch": false | 4409 "mismatch": false, |
| 4410 "warnings": [] | |
| 3947 }, | 4411 }, |
| 3948 { | 4412 { |
| 3949 "gene": "DPYD", | 4413 "gene": "DPYD", |
| 3950 "chromosome": "chr1", | 4414 "chromosome": "chr1", |
| 3951 "position": 97595088, | 4415 "position": 97595088, |
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| 3955 "c.929T\u003eC" | 4419 "c.929T\u003eC" |
| 3956 ], | 4420 ], |
| 3957 "phased": true, | 4421 "phased": true, |
| 3958 "wildtypeAllele": "A", | 4422 "wildtypeAllele": "A", |
| 3959 "mismatch": false | 4423 "mismatch": false, |
| 4424 "warnings": [] | |
| 3960 }, | 4425 }, |
| 3961 { | 4426 { |
| 3962 "gene": "DPYD", | 4427 "gene": "DPYD", |
| 3963 "chromosome": "chr1", | 4428 "chromosome": "chr1", |
| 3964 "position": 97595149, | 4429 "position": 97595149, |
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| 3968 "c.868A\u003eG" | 4433 "c.868A\u003eG" |
| 3969 ], | 4434 ], |
| 3970 "phased": true, | 4435 "phased": true, |
| 3971 "wildtypeAllele": "T", | 4436 "wildtypeAllele": "T", |
| 3972 "mismatch": false | 4437 "mismatch": false, |
| 4438 "warnings": [] | |
| 3973 }, | 4439 }, |
| 3974 { | 4440 { |
| 3975 "gene": "DPYD", | 4441 "gene": "DPYD", |
| 3976 "chromosome": "chr1", | 4442 "chromosome": "chr1", |
| 3977 "position": 97679170, | 4443 "position": 97679170, |
| 3980 "alleles": [ | 4446 "alleles": [ |
| 3981 "c.775A\u003eG" | 4447 "c.775A\u003eG" |
| 3982 ], | 4448 ], |
| 3983 "phased": true, | 4449 "phased": true, |
| 3984 "wildtypeAllele": "T", | 4450 "wildtypeAllele": "T", |
| 3985 "mismatch": false | 4451 "mismatch": false, |
| 4452 "warnings": [] | |
| 3986 }, | 4453 }, |
| 3987 { | 4454 { |
| 3988 "gene": "DPYD", | 4455 "gene": "DPYD", |
| 3989 "chromosome": "chr1", | 4456 "chromosome": "chr1", |
| 3990 "position": 97691776, | 4457 "position": 97691776, |
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| 3994 "c.703C\u003eT (*8)" | 4461 "c.703C\u003eT (*8)" |
| 3995 ], | 4462 ], |
| 3996 "phased": true, | 4463 "phased": true, |
| 3997 "wildtypeAllele": "G", | 4464 "wildtypeAllele": "G", |
| 3998 "mismatch": false | 4465 "mismatch": false, |
| 4466 "warnings": [] | |
| 3999 }, | 4467 }, |
| 4000 { | 4468 { |
| 4001 "gene": "DPYD", | 4469 "gene": "DPYD", |
| 4002 "chromosome": "chr1", | 4470 "chromosome": "chr1", |
| 4003 "position": 97699399, | 4471 "position": 97699399, |
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| 4007 "c.632A\u003eG" | 4475 "c.632A\u003eG" |
| 4008 ], | 4476 ], |
| 4009 "phased": true, | 4477 "phased": true, |
| 4010 "wildtypeAllele": "T", | 4478 "wildtypeAllele": "T", |
| 4011 "mismatch": false | 4479 "mismatch": false, |
| 4480 "warnings": [] | |
| 4012 }, | 4481 }, |
| 4013 { | 4482 { |
| 4014 "gene": "DPYD", | 4483 "gene": "DPYD", |
| 4015 "chromosome": "chr1", | 4484 "chromosome": "chr1", |
| 4016 "position": 97699430, | 4485 "position": 97699430, |
| 4019 "alleles": [ | 4488 "alleles": [ |
| 4020 "c.601A\u003eC" | 4489 "c.601A\u003eC" |
| 4021 ], | 4490 ], |
| 4022 "phased": true, | 4491 "phased": true, |
| 4023 "wildtypeAllele": "T", | 4492 "wildtypeAllele": "T", |
| 4024 "mismatch": false | 4493 "mismatch": false, |
| 4494 "warnings": [] | |
| 4025 }, | 4495 }, |
| 4026 { | 4496 { |
| 4027 "gene": "DPYD", | 4497 "gene": "DPYD", |
| 4028 "chromosome": "chr1", | 4498 "chromosome": "chr1", |
| 4029 "position": 97699474, | 4499 "position": 97699474, |
| 4032 "alleles": [ | 4502 "alleles": [ |
| 4033 "c.557A\u003eG" | 4503 "c.557A\u003eG" |
| 4034 ], | 4504 ], |
| 4035 "phased": true, | 4505 "phased": true, |
| 4036 "wildtypeAllele": "T", | 4506 "wildtypeAllele": "T", |
| 4037 "mismatch": false | 4507 "mismatch": false, |
| 4508 "warnings": [] | |
| 4038 }, | 4509 }, |
| 4039 { | 4510 { |
| 4040 "gene": "DPYD", | 4511 "gene": "DPYD", |
| 4041 "chromosome": "chr1", | 4512 "chromosome": "chr1", |
| 4042 "position": 97699506, | 4513 "position": 97699506, |
| 4045 "alleles": [ | 4516 "alleles": [ |
| 4046 "c.525G\u003eA" | 4517 "c.525G\u003eA" |
| 4047 ], | 4518 ], |
| 4048 "phased": true, | 4519 "phased": true, |
| 4049 "wildtypeAllele": "C", | 4520 "wildtypeAllele": "C", |
| 4050 "mismatch": false | 4521 "mismatch": false, |
| 4522 "warnings": [] | |
| 4051 }, | 4523 }, |
| 4052 { | 4524 { |
| 4053 "gene": "DPYD", | 4525 "gene": "DPYD", |
| 4054 "chromosome": "chr1", | 4526 "chromosome": "chr1", |
| 4055 "position": 97699533, | 4527 "position": 97699533, |
| 4058 "alleles": [ | 4530 "alleles": [ |
| 4059 "c.498G\u003eA" | 4531 "c.498G\u003eA" |
| 4060 ], | 4532 ], |
| 4061 "phased": true, | 4533 "phased": true, |
| 4062 "wildtypeAllele": "C", | 4534 "wildtypeAllele": "C", |
| 4063 "mismatch": false | 4535 "mismatch": false, |
| 4536 "warnings": [] | |
| 4064 }, | 4537 }, |
| 4065 { | 4538 { |
| 4066 "gene": "DPYD", | 4539 "gene": "DPYD", |
| 4067 "chromosome": "chr1", | 4540 "chromosome": "chr1", |
| 4068 "position": 97699535, | 4541 "position": 97699535, |
| 4071 "alleles": [ | 4544 "alleles": [ |
| 4072 "c.496A\u003eG" | 4545 "c.496A\u003eG" |
| 4073 ], | 4546 ], |
| 4074 "phased": true, | 4547 "phased": true, |
| 4075 "wildtypeAllele": "T", | 4548 "wildtypeAllele": "T", |
| 4076 "mismatch": false | 4549 "mismatch": false, |
| 4550 "warnings": [] | |
| 4077 }, | 4551 }, |
| 4078 { | 4552 { |
| 4079 "gene": "DPYD", | 4553 "gene": "DPYD", |
| 4080 "chromosome": "chr1", | 4554 "chromosome": "chr1", |
| 4081 "position": 97721542, | 4555 "position": 97721542, |
| 4084 "alleles": [ | 4558 "alleles": [ |
| 4085 "c.451A\u003eG" | 4559 "c.451A\u003eG" |
| 4086 ], | 4560 ], |
| 4087 "phased": true, | 4561 "phased": true, |
| 4088 "wildtypeAllele": "T", | 4562 "wildtypeAllele": "T", |
| 4089 "mismatch": false | 4563 "mismatch": false, |
| 4564 "warnings": [] | |
| 4090 }, | 4565 }, |
| 4091 { | 4566 { |
| 4092 "gene": "DPYD", | 4567 "gene": "DPYD", |
| 4093 "chromosome": "chr1", | 4568 "chromosome": "chr1", |
| 4094 "position": 97721650, | 4569 "position": 97721650, |
| 4097 "alleles": [ | 4572 "alleles": [ |
| 4098 "c.343A\u003eG" | 4573 "c.343A\u003eG" |
| 4099 ], | 4574 ], |
| 4100 "phased": true, | 4575 "phased": true, |
| 4101 "wildtypeAllele": "T", | 4576 "wildtypeAllele": "T", |
| 4102 "mismatch": false | 4577 "mismatch": false, |
| 4578 "warnings": [] | |
| 4103 }, | 4579 }, |
| 4104 { | 4580 { |
| 4105 "gene": "DPYD", | 4581 "gene": "DPYD", |
| 4106 "chromosome": "chr1", | 4582 "chromosome": "chr1", |
| 4107 "position": 97740400, | 4583 "position": 97740400, |
| 4110 "alleles": [ | 4586 "alleles": [ |
| 4111 "c.313G\u003eA" | 4587 "c.313G\u003eA" |
| 4112 ], | 4588 ], |
| 4113 "phased": true, | 4589 "phased": true, |
| 4114 "wildtypeAllele": "C", | 4590 "wildtypeAllele": "C", |
| 4115 "mismatch": false | 4591 "mismatch": false, |
| 4592 "warnings": [] | |
| 4116 }, | 4593 }, |
| 4117 { | 4594 { |
| 4118 "gene": "DPYD", | 4595 "gene": "DPYD", |
| 4119 "chromosome": "chr1", | 4596 "chromosome": "chr1", |
| 4120 "position": 97740410, | 4597 "position": 97740410, |
| 4123 "alleles": [ | 4600 "alleles": [ |
| 4124 "c.295_298delTCAT (*7)" | 4601 "c.295_298delTCAT (*7)" |
| 4125 ], | 4602 ], |
| 4126 "phased": true, | 4603 "phased": true, |
| 4127 "wildtypeAllele": "GATGA", | 4604 "wildtypeAllele": "GATGA", |
| 4128 "mismatch": false | 4605 "mismatch": false, |
| 4606 "warnings": [] | |
| 4129 }, | 4607 }, |
| 4130 { | 4608 { |
| 4131 "gene": "DPYD", | 4609 "gene": "DPYD", |
| 4132 "chromosome": "chr1", | 4610 "chromosome": "chr1", |
| 4133 "position": 97883329, | 4611 "position": 97883329, |
| 4136 "alleles": [ | 4614 "alleles": [ |
| 4137 "c.85T\u003eC (*9A)" | 4615 "c.85T\u003eC (*9A)" |
| 4138 ], | 4616 ], |
| 4139 "phased": true, | 4617 "phased": true, |
| 4140 "wildtypeAllele": "A", | 4618 "wildtypeAllele": "A", |
| 4141 "mismatch": false | 4619 "mismatch": false, |
| 4620 "warnings": [] | |
| 4142 }, | 4621 }, |
| 4143 { | 4622 { |
| 4144 "gene": "DPYD", | 4623 "gene": "DPYD", |
| 4145 "chromosome": "chr1", | 4624 "chromosome": "chr1", |
| 4146 "position": 97883352, | 4625 "position": 97883352, |
| 4149 "alleles": [ | 4628 "alleles": [ |
| 4150 "c.62G\u003eA" | 4629 "c.62G\u003eA" |
| 4151 ], | 4630 ], |
| 4152 "phased": true, | 4631 "phased": true, |
| 4153 "wildtypeAllele": "C", | 4632 "wildtypeAllele": "C", |
| 4154 "mismatch": false | 4633 "mismatch": false, |
| 4634 "warnings": [] | |
| 4155 }, | 4635 }, |
| 4156 { | 4636 { |
| 4157 "gene": "DPYD", | 4637 "gene": "DPYD", |
| 4158 "chromosome": "chr1", | 4638 "chromosome": "chr1", |
| 4159 "position": 97883353, | 4639 "position": 97883353, |
| 4162 "alleles": [ | 4642 "alleles": [ |
| 4163 "c.61C\u003eT" | 4643 "c.61C\u003eT" |
| 4164 ], | 4644 ], |
| 4165 "phased": true, | 4645 "phased": true, |
| 4166 "wildtypeAllele": "G", | 4646 "wildtypeAllele": "G", |
| 4167 "mismatch": false | 4647 "mismatch": false, |
| 4648 "warnings": [] | |
| 4168 }, | 4649 }, |
| 4169 { | 4650 { |
| 4170 "gene": "DPYD", | 4651 "gene": "DPYD", |
| 4171 "chromosome": "chr1", | 4652 "chromosome": "chr1", |
| 4172 "position": 97883368, | 4653 "position": 97883368, |
| 4175 "alleles": [ | 4656 "alleles": [ |
| 4176 "c.46C\u003eG" | 4657 "c.46C\u003eG" |
| 4177 ], | 4658 ], |
| 4178 "phased": true, | 4659 "phased": true, |
| 4179 "wildtypeAllele": "G", | 4660 "wildtypeAllele": "G", |
| 4180 "mismatch": false | 4661 "mismatch": false, |
| 4662 "warnings": [] | |
| 4181 } | 4663 } |
| 4182 ], | 4664 ], |
| 4183 "variantsOfInterest": [], | 4665 "variantsOfInterest": [], |
| 4184 "highlightedVariants": [] | 4666 "highlightedVariants": [] |
| 4185 }, | 4667 }, |
| 4189 "phased": false, | 4671 "phased": false, |
| 4190 "callSource": "OUTSIDE", | 4672 "callSource": "OUTSIDE", |
| 4191 "uncalledHaplotypes": [], | 4673 "uncalledHaplotypes": [], |
| 4192 "messages": [], | 4674 "messages": [], |
| 4193 "relatedDrugs": [], | 4675 "relatedDrugs": [], |
| 4194 "matcherDiplotypes": [ | 4676 "matcherDiplotypes": [], |
| 4677 "diplotypes": [ | |
| 4195 { | 4678 { |
| 4196 "allele1": { | 4679 "allele1": { |
| 4197 "gene": "G6PD", | 4680 "gene": "G6PD", |
| 4198 "name": "B (wildtype)", | 4681 "name": "B (wildtype)", |
| 4199 "function": "Normal function", | 4682 "function": "Normal function", |
| 4204 "name": "B (wildtype)", | 4687 "name": "B (wildtype)", |
| 4205 "function": "Normal function", | 4688 "function": "Normal function", |
| 4206 "reference": true | 4689 "reference": true |
| 4207 }, | 4690 }, |
| 4208 "gene": "G6PD", | 4691 "gene": "G6PD", |
| 4209 "phenotype": "Normal", | 4692 "phenotypes": [ |
| 4693 "Normal" | |
| 4694 ], | |
| 4210 "variant": null, | 4695 "variant": null, |
| 4211 "lookupKey": "Normal", | 4696 "lookupKey": [ |
| 4212 "label": "B (wildtype)/B (wildtype)" | 4697 "Normal" |
| 4213 } | 4698 ], |
| 4214 ], | |
| 4215 "diplotypes": [ | |
| 4216 { | |
| 4217 "allele1": { | |
| 4218 "gene": "G6PD", | |
| 4219 "name": "B (wildtype)", | |
| 4220 "function": "Normal function", | |
| 4221 "reference": true | |
| 4222 }, | |
| 4223 "allele2": { | |
| 4224 "gene": "G6PD", | |
| 4225 "name": "B (wildtype)", | |
| 4226 "function": "Normal function", | |
| 4227 "reference": true | |
| 4228 }, | |
| 4229 "gene": "G6PD", | |
| 4230 "phenotype": "Normal", | |
| 4231 "variant": null, | |
| 4232 "lookupKey": "Normal", | |
| 4233 "label": "B (wildtype)/B (wildtype)" | 4699 "label": "B (wildtype)/B (wildtype)" |
| 4234 } | 4700 } |
| 4235 ], | 4701 ], |
| 4236 "variants": [], | 4702 "variants": [], |
| 4237 "variantsOfInterest": [], | 4703 "variantsOfInterest": [], |
| 4274 "name": "rs12979860 reference (C)", | 4740 "name": "rs12979860 reference (C)", |
| 4275 "function": null, | 4741 "function": null, |
| 4276 "reference": true | 4742 "reference": true |
| 4277 }, | 4743 }, |
| 4278 "gene": "IFNL3", | 4744 "gene": "IFNL3", |
| 4279 "phenotype": null, | 4745 "phenotypes": [], |
| 4280 "variant": null, | 4746 "variant": null, |
| 4281 "lookupKey": null, | 4747 "lookupKey": [], |
| 4282 "label": "rs12979860 reference (C)/rs12979860 reference (C)" | 4748 "label": "rs12979860 reference (C)/rs12979860 reference (C)" |
| 4283 } | 4749 } |
| 4284 ], | 4750 ], |
| 4285 "diplotypes": [ | 4751 "diplotypes": [ |
| 4286 { | 4752 { |
| 4295 "name": "rs12979860 reference (C)", | 4761 "name": "rs12979860 reference (C)", |
| 4296 "function": null, | 4762 "function": null, |
| 4297 "reference": true | 4763 "reference": true |
| 4298 }, | 4764 }, |
| 4299 "gene": "IFNL3", | 4765 "gene": "IFNL3", |
| 4300 "phenotype": null, | 4766 "phenotypes": [], |
| 4301 "variant": null, | 4767 "variant": null, |
| 4302 "lookupKey": null, | 4768 "lookupKey": [], |
| 4303 "label": "rs12979860 reference (C)/rs12979860 reference (C)" | 4769 "label": "rs12979860 reference (C)/rs12979860 reference (C)" |
| 4304 } | 4770 } |
| 4305 ], | 4771 ], |
| 4306 "variants": [ | 4772 "variants": [ |
| 4307 { | 4773 { |
| 4313 "alleles": [ | 4779 "alleles": [ |
| 4314 "rs12979860 variant (T)" | 4780 "rs12979860 variant (T)" |
| 4315 ], | 4781 ], |
| 4316 "phased": true, | 4782 "phased": true, |
| 4317 "wildtypeAllele": "C", | 4783 "wildtypeAllele": "C", |
| 4318 "mismatch": false | 4784 "mismatch": false, |
| 4785 "warnings": [] | |
| 4319 } | 4786 } |
| 4320 ], | 4787 ], |
| 4321 "variantsOfInterest": [], | 4788 "variantsOfInterest": [], |
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| 4328 "callSource": "OUTSIDE", | 4795 "callSource": "OUTSIDE", |
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| 4800 "diplotypes": [ | |
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| 4349 { | |
| 4350 "allele1": { | |
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| 4360 "lookupKey": "increased risk of aminoglycoside-induced hearing loss", | |
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| 4852 "Normal Metabolizer" | |
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| 4877 "Normal Metabolizer" | |
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| 4630 { | 5110 { |
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| 4669 "gene": "RYR1", | 5150 "gene": "RYR1", |
| 4670 "phenotype": "Uncertain Susceptibility", | 5151 "phenotypes": [ |
| 5152 "Uncertain Susceptibility" | |
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| 4672 "lookupKey": "Uncertain Susceptibility", | 5155 "lookupKey": [ |
| 5156 "Uncertain Susceptibility" | |
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| 4673 "label": "Reference/Reference" | 5158 "label": "Reference/Reference" |
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| 4676 "diplotypes": [ | 5161 "diplotypes": [ |
| 4677 { | 5162 { |
| 4686 "name": "Reference", | 5171 "name": "Reference", |
| 4687 "function": "Normal function", | 5172 "function": "Normal function", |
| 4688 "reference": true | 5173 "reference": true |
| 4689 }, | 5174 }, |
| 4690 "gene": "RYR1", | 5175 "gene": "RYR1", |
| 4691 "phenotype": "Uncertain Susceptibility", | 5176 "phenotypes": [ |
| 5177 "Uncertain Susceptibility" | |
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| 4693 "lookupKey": "Uncertain Susceptibility", | 5180 "lookupKey": [ |
| 5181 "Uncertain Susceptibility" | |
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| 4698 { | 5187 { |
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| 4705 "c.103T\u003eC" | 5194 "c.103T\u003eC" |
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| 4708 "wildtypeAllele": "T", | 5197 "wildtypeAllele": "T", |
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| 4710 }, | 5200 }, |
| 4711 { | 5201 { |
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| 4718 "c.130C\u003eT" | 5208 "c.130C\u003eT" |
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| 4721 "wildtypeAllele": "C", | 5211 "wildtypeAllele": "C", |
| 4722 "mismatch": false | 5212 "mismatch": false, |
| 5213 "warnings": [] | |
| 4723 }, | 5214 }, |
| 4724 { | 5215 { |
| 4725 "gene": "RYR1", | 5216 "gene": "RYR1", |
| 4726 "chromosome": "chr19", | 5217 "chromosome": "chr19", |
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| 4731 "c.487C\u003eT" | 5222 "c.487C\u003eT" |
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| 4734 "wildtypeAllele": "C", | 5225 "wildtypeAllele": "C", |
| 4735 "mismatch": false | 5226 "mismatch": false, |
| 5227 "warnings": [] | |
| 4736 }, | 5228 }, |
| 4737 { | 5229 { |
| 4738 "gene": "RYR1", | 5230 "gene": "RYR1", |
| 4739 "chromosome": "chr19", | 5231 "chromosome": "chr19", |
| 4740 "position": 38444212, | 5232 "position": 38444212, |
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| 4744 "c.488G\u003eT" | 5236 "c.488G\u003eT" |
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| 4747 "wildtypeAllele": "G", | 5239 "wildtypeAllele": "G", |
| 4748 "mismatch": false | 5240 "mismatch": false, |
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| 4749 }, | 5242 }, |
| 4750 { | 5243 { |
| 4751 "gene": "RYR1", | 5244 "gene": "RYR1", |
| 4752 "chromosome": "chr19", | 5245 "chromosome": "chr19", |
| 4753 "position": 38446710, | 5246 "position": 38446710, |
| 4757 "c.742G\u003eA", | 5250 "c.742G\u003eA", |
| 4758 "c.742G\u003eC" | 5251 "c.742G\u003eC" |
| 4759 ], | 5252 ], |
| 4760 "phased": true, | 5253 "phased": true, |
| 4761 "wildtypeAllele": "G", | 5254 "wildtypeAllele": "G", |
| 4762 "mismatch": false | 5255 "mismatch": false, |
| 5256 "warnings": [] | |
| 4763 }, | 5257 }, |
| 4764 { | 5258 { |
| 4765 "gene": "RYR1", | 5259 "gene": "RYR1", |
| 4766 "chromosome": "chr19", | 5260 "chromosome": "chr19", |
| 4767 "position": 38448673, | 5261 "position": 38448673, |
| 4770 "alleles": [ | 5264 "alleles": [ |
| 4771 "c.982C\u003eT" | 5265 "c.982C\u003eT" |
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| 4774 "wildtypeAllele": "C", | 5268 "wildtypeAllele": "C", |
| 4775 "mismatch": false | 5269 "mismatch": false, |
| 5270 "warnings": [] | |
| 4776 }, | 5271 }, |
| 4777 { | 5272 { |
| 4778 "gene": "RYR1", | 5273 "gene": "RYR1", |
| 4779 "chromosome": "chr19", | 5274 "chromosome": "chr19", |
| 4780 "position": 38448712, | 5275 "position": 38448712, |
| 4784 "c.1021G\u003eA", | 5279 "c.1021G\u003eA", |
| 4785 "c.1021G\u003eC" | 5280 "c.1021G\u003eC" |
| 4786 ], | 5281 ], |
| 4787 "phased": true, | 5282 "phased": true, |
| 4788 "wildtypeAllele": "G", | 5283 "wildtypeAllele": "G", |
| 4789 "mismatch": false | 5284 "mismatch": false, |
| 5285 "warnings": [] | |
| 4790 }, | 5286 }, |
| 4791 { | 5287 { |
| 4792 "gene": "RYR1", | 5288 "gene": "RYR1", |
| 4793 "chromosome": "chr19", | 5289 "chromosome": "chr19", |
| 4794 "position": 38451842, | 5290 "position": 38451842, |
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| 4798 "c.1201C\u003eT" | 5294 "c.1201C\u003eT" |
| 4799 ], | 5295 ], |
| 4800 "phased": true, | 5296 "phased": true, |
| 4801 "wildtypeAllele": "C", | 5297 "wildtypeAllele": "C", |
| 4802 "mismatch": false | 5298 "mismatch": false, |
| 5299 "warnings": [] | |
| 4803 }, | 5300 }, |
| 4804 { | 5301 { |
| 4805 "gene": "RYR1", | 5302 "gene": "RYR1", |
| 4806 "chromosome": "chr19", | 5303 "chromosome": "chr19", |
| 4807 "position": 38451850, | 5304 "position": 38451850, |
| 4810 "alleles": [ | 5307 "alleles": [ |
| 4811 "c.1209C\u003eG" | 5308 "c.1209C\u003eG" |
| 4812 ], | 5309 ], |
| 4813 "phased": true, | 5310 "phased": true, |
| 4814 "wildtypeAllele": "C", | 5311 "wildtypeAllele": "C", |
| 4815 "mismatch": false | 5312 "mismatch": false, |
| 5313 "warnings": [] | |
| 4816 }, | 5314 }, |
| 4817 { | 5315 { |
| 4818 "gene": "RYR1", | 5316 "gene": "RYR1", |
| 4819 "chromosome": "chr19", | 5317 "chromosome": "chr19", |
| 4820 "position": 38455359, | 5318 "position": 38455359, |
| 4823 "alleles": [ | 5321 "alleles": [ |
| 4824 "c.1565A\u003eC" | 5322 "c.1565A\u003eC" |
| 4825 ], | 5323 ], |
| 4826 "phased": true, | 5324 "phased": true, |
| 4827 "wildtypeAllele": "A", | 5325 "wildtypeAllele": "A", |
| 4828 "mismatch": false | 5326 "mismatch": false, |
| 5327 "warnings": [] | |
| 4829 }, | 5328 }, |
| 4830 { | 5329 { |
| 4831 "gene": "RYR1", | 5330 "gene": "RYR1", |
| 4832 "chromosome": "chr19", | 5331 "chromosome": "chr19", |
| 4833 "position": 38455463, | 5332 "position": 38455463, |
| 4836 "alleles": [ | 5335 "alleles": [ |
| 4837 "c.1589G\u003eA" | 5336 "c.1589G\u003eA" |
| 4838 ], | 5337 ], |
| 4839 "phased": true, | 5338 "phased": true, |
| 4840 "wildtypeAllele": "G", | 5339 "wildtypeAllele": "G", |
| 4841 "mismatch": false | 5340 "mismatch": false, |
| 5341 "warnings": [] | |
| 4842 }, | 5342 }, |
| 4843 { | 5343 { |
| 4844 "gene": "RYR1", | 5344 "gene": "RYR1", |
| 4845 "chromosome": "chr19", | 5345 "chromosome": "chr19", |
| 4846 "position": 38455471, | 5346 "position": 38455471, |
| 4849 "alleles": [ | 5349 "alleles": [ |
| 4850 "c.1597C\u003eT" | 5350 "c.1597C\u003eT" |
| 4851 ], | 5351 ], |
| 4852 "phased": true, | 5352 "phased": true, |
| 4853 "wildtypeAllele": "C", | 5353 "wildtypeAllele": "C", |
| 4854 "mismatch": false | 5354 "mismatch": false, |
| 5355 "warnings": [] | |
| 4855 }, | 5356 }, |
| 4856 { | 5357 { |
| 4857 "gene": "RYR1", | 5358 "gene": "RYR1", |
| 4858 "chromosome": "chr19", | 5359 "chromosome": "chr19", |
| 4859 "position": 38455472, | 5360 "position": 38455472, |
| 4862 "alleles": [ | 5363 "alleles": [ |
| 4863 "c.1598G\u003eA" | 5364 "c.1598G\u003eA" |
| 4864 ], | 5365 ], |
| 4865 "phased": true, | 5366 "phased": true, |
| 4866 "wildtypeAllele": "G", | 5367 "wildtypeAllele": "G", |
| 4867 "mismatch": false | 5368 "mismatch": false, |
| 5369 "warnings": [] | |
| 4868 }, | 5370 }, |
| 4869 { | 5371 { |
| 4870 "gene": "RYR1", | 5372 "gene": "RYR1", |
| 4871 "chromosome": "chr19", | 5373 "chromosome": "chr19", |
| 4872 "position": 38455528, | 5374 "position": 38455528, |
| 4875 "alleles": [ | 5377 "alleles": [ |
| 4876 "c.1654C\u003eT" | 5378 "c.1654C\u003eT" |
| 4877 ], | 5379 ], |
| 4878 "phased": true, | 5380 "phased": true, |
| 4879 "wildtypeAllele": "C", | 5381 "wildtypeAllele": "C", |
| 4880 "mismatch": false | 5382 "mismatch": false, |
| 5383 "warnings": [] | |
| 4881 }, | 5384 }, |
| 4882 { | 5385 { |
| 4883 "gene": "RYR1", | 5386 "gene": "RYR1", |
| 4884 "chromosome": "chr19", | 5387 "chromosome": "chr19", |
| 4885 "position": 38457545, | 5388 "position": 38457545, |
| 4888 "alleles": [ | 5391 "alleles": [ |
| 4889 "c.1840C\u003eT" | 5392 "c.1840C\u003eT" |
| 4890 ], | 5393 ], |
| 4891 "phased": true, | 5394 "phased": true, |
| 4892 "wildtypeAllele": "C", | 5395 "wildtypeAllele": "C", |
| 4893 "mismatch": false | 5396 "mismatch": false, |
| 5397 "warnings": [] | |
| 4894 }, | 5398 }, |
| 4895 { | 5399 { |
| 4896 "gene": "RYR1", | 5400 "gene": "RYR1", |
| 4897 "chromosome": "chr19", | 5401 "chromosome": "chr19", |
| 4898 "position": 38457546, | 5402 "position": 38457546, |
| 4901 "alleles": [ | 5405 "alleles": [ |
| 4902 "c.1841G\u003eT" | 5406 "c.1841G\u003eT" |
| 4903 ], | 5407 ], |
| 4904 "phased": true, | 5408 "phased": true, |
| 4905 "wildtypeAllele": "G", | 5409 "wildtypeAllele": "G", |
| 4906 "mismatch": false | 5410 "mismatch": false, |
| 5411 "warnings": [] | |
| 4907 }, | 5412 }, |
| 4908 { | 5413 { |
| 4909 "gene": "RYR1", | 5414 "gene": "RYR1", |
| 4910 "chromosome": "chr19", | 5415 "chromosome": "chr19", |
| 4911 "position": 38494564, | 5416 "position": 38494564, |
| 4914 "alleles": [ | 5419 "alleles": [ |
| 4915 "c.6487C\u003eT" | 5420 "c.6487C\u003eT" |
| 4916 ], | 5421 ], |
| 4917 "phased": true, | 5422 "phased": true, |
| 4918 "wildtypeAllele": "C", | 5423 "wildtypeAllele": "C", |
| 4919 "mismatch": false | 5424 "mismatch": false, |
| 5425 "warnings": [] | |
| 4920 }, | 5426 }, |
| 4921 { | 5427 { |
| 4922 "gene": "RYR1", | 5428 "gene": "RYR1", |
| 4923 "chromosome": "chr19", | 5429 "chromosome": "chr19", |
| 4924 "position": 38494565, | 5430 "position": 38494565, |
| 4927 "alleles": [ | 5433 "alleles": [ |
| 4928 "c.6488G\u003eA" | 5434 "c.6488G\u003eA" |
| 4929 ], | 5435 ], |
| 4930 "phased": true, | 5436 "phased": true, |
| 4931 "wildtypeAllele": "G", | 5437 "wildtypeAllele": "G", |
| 4932 "mismatch": false | 5438 "mismatch": false, |
| 5439 "warnings": [] | |
| 4933 }, | 5440 }, |
| 4934 { | 5441 { |
| 4935 "gene": "RYR1", | 5442 "gene": "RYR1", |
| 4936 "chromosome": "chr19", | 5443 "chromosome": "chr19", |
| 4937 "position": 38494579, | 5444 "position": 38494579, |
| 4940 "alleles": [ | 5447 "alleles": [ |
| 4941 "c.6502G\u003eA" | 5448 "c.6502G\u003eA" |
| 4942 ], | 5449 ], |
| 4943 "phased": true, | 5450 "phased": true, |
| 4944 "wildtypeAllele": "G", | 5451 "wildtypeAllele": "G", |
| 4945 "mismatch": false | 5452 "mismatch": false, |
| 5453 "warnings": [] | |
| 4946 }, | 5454 }, |
| 4947 { | 5455 { |
| 4948 "gene": "RYR1", | 5456 "gene": "RYR1", |
| 4949 "chromosome": "chr19", | 5457 "chromosome": "chr19", |
| 4950 "position": 38496283, | 5458 "position": 38496283, |
| 4954 "c.6617C\u003eG", | 5462 "c.6617C\u003eG", |
| 4955 "c.6617C\u003eT" | 5463 "c.6617C\u003eT" |
| 4956 ], | 5464 ], |
| 4957 "phased": true, | 5465 "phased": true, |
| 4958 "wildtypeAllele": "C", | 5466 "wildtypeAllele": "C", |
| 4959 "mismatch": false | 5467 "mismatch": false, |
| 5468 "warnings": [] | |
| 4960 }, | 5469 }, |
| 4961 { | 5470 { |
| 4962 "gene": "RYR1", | 5471 "gene": "RYR1", |
| 4963 "chromosome": "chr19", | 5472 "chromosome": "chr19", |
| 4964 "position": 38499223, | 5473 "position": 38499223, |
| 4967 "alleles": [ | 5476 "alleles": [ |
| 4968 "c.7007G\u003eA" | 5477 "c.7007G\u003eA" |
| 4969 ], | 5478 ], |
| 4970 "phased": true, | 5479 "phased": true, |
| 4971 "wildtypeAllele": "G", | 5480 "wildtypeAllele": "G", |
| 4972 "mismatch": false | 5481 "mismatch": false, |
| 5482 "warnings": [] | |
| 4973 }, | 5483 }, |
| 4974 { | 5484 { |
| 4975 "gene": "RYR1", | 5485 "gene": "RYR1", |
| 4976 "chromosome": "chr19", | 5486 "chromosome": "chr19", |
| 4977 "position": 38499644, | 5487 "position": 38499644, |
| 4980 "alleles": [ | 5490 "alleles": [ |
| 4981 "c.7042_7044delGAG" | 5491 "c.7042_7044delGAG" |
| 4982 ], | 5492 ], |
| 4983 "phased": true, | 5493 "phased": true, |
| 4984 "wildtypeAllele": "TGGA", | 5494 "wildtypeAllele": "TGGA", |
| 4985 "mismatch": false | 5495 "mismatch": false, |
| 5496 "warnings": [] | |
| 4986 }, | 5497 }, |
| 4987 { | 5498 { |
| 4988 "gene": "RYR1", | 5499 "gene": "RYR1", |
| 4989 "chromosome": "chr19", | 5500 "chromosome": "chr19", |
| 4990 "position": 38499655, | 5501 "position": 38499655, |
| 4993 "alleles": [ | 5504 "alleles": [ |
| 4994 "c.7048G\u003eA" | 5505 "c.7048G\u003eA" |
| 4995 ], | 5506 ], |
| 4996 "phased": true, | 5507 "phased": true, |
| 4997 "wildtypeAllele": "G", | 5508 "wildtypeAllele": "G", |
| 4998 "mismatch": false | 5509 "mismatch": false, |
| 5510 "warnings": [] | |
| 4999 }, | 5511 }, |
| 5000 { | 5512 { |
| 5001 "gene": "RYR1", | 5513 "gene": "RYR1", |
| 5002 "chromosome": "chr19", | 5514 "chromosome": "chr19", |
| 5003 "position": 38499670, | 5515 "position": 38499670, |
| 5006 "alleles": [ | 5518 "alleles": [ |
| 5007 "c.7063C\u003eT" | 5519 "c.7063C\u003eT" |
| 5008 ], | 5520 ], |
| 5009 "phased": true, | 5521 "phased": true, |
| 5010 "wildtypeAllele": "C", | 5522 "wildtypeAllele": "C", |
| 5011 "mismatch": false | 5523 "mismatch": false, |
| 5524 "warnings": [] | |
| 5012 }, | 5525 }, |
| 5013 { | 5526 { |
| 5014 "gene": "RYR1", | 5527 "gene": "RYR1", |
| 5015 "chromosome": "chr19", | 5528 "chromosome": "chr19", |
| 5016 "position": 38499731, | 5529 "position": 38499731, |
| 5019 "alleles": [ | 5532 "alleles": [ |
| 5020 "c.7124G\u003eC" | 5533 "c.7124G\u003eC" |
| 5021 ], | 5534 ], |
| 5022 "phased": true, | 5535 "phased": true, |
| 5023 "wildtypeAllele": "G", | 5536 "wildtypeAllele": "G", |
| 5024 "mismatch": false | 5537 "mismatch": false, |
| 5538 "warnings": [] | |
| 5025 }, | 5539 }, |
| 5026 { | 5540 { |
| 5027 "gene": "RYR1", | 5541 "gene": "RYR1", |
| 5028 "chromosome": "chr19", | 5542 "chromosome": "chr19", |
| 5029 "position": 38499975, | 5543 "position": 38499975, |
| 5032 "alleles": [ | 5546 "alleles": [ |
| 5033 "c.7282G\u003eA" | 5547 "c.7282G\u003eA" |
| 5034 ], | 5548 ], |
| 5035 "phased": true, | 5549 "phased": true, |
| 5036 "wildtypeAllele": "G", | 5550 "wildtypeAllele": "G", |
| 5037 "mismatch": false | 5551 "mismatch": false, |
| 5552 "warnings": [] | |
| 5038 }, | 5553 }, |
| 5039 { | 5554 { |
| 5040 "gene": "RYR1", | 5555 "gene": "RYR1", |
| 5041 "chromosome": "chr19", | 5556 "chromosome": "chr19", |
| 5042 "position": 38499993, | 5557 "position": 38499993, |
| 5045 "alleles": [ | 5560 "alleles": [ |
| 5046 "c.7300G\u003eA" | 5561 "c.7300G\u003eA" |
| 5047 ], | 5562 ], |
| 5048 "phased": true, | 5563 "phased": true, |
| 5049 "wildtypeAllele": "G", | 5564 "wildtypeAllele": "G", |
| 5050 "mismatch": false | 5565 "mismatch": false, |
| 5566 "warnings": [] | |
| 5051 }, | 5567 }, |
| 5052 { | 5568 { |
| 5053 "gene": "RYR1", | 5569 "gene": "RYR1", |
| 5054 "chromosome": "chr19", | 5570 "chromosome": "chr19", |
| 5055 "position": 38499997, | 5571 "position": 38499997, |
| 5058 "alleles": [ | 5574 "alleles": [ |
| 5059 "c.7304G\u003eA" | 5575 "c.7304G\u003eA" |
| 5060 ], | 5576 ], |
| 5061 "phased": true, | 5577 "phased": true, |
| 5062 "wildtypeAllele": "G", | 5578 "wildtypeAllele": "G", |
| 5063 "mismatch": false | 5579 "mismatch": false, |
| 5580 "warnings": [] | |
| 5064 }, | 5581 }, |
| 5065 { | 5582 { |
| 5066 "gene": "RYR1", | 5583 "gene": "RYR1", |
| 5067 "chromosome": "chr19", | 5584 "chromosome": "chr19", |
| 5068 "position": 38500636, | 5585 "position": 38500636, |
| 5071 "alleles": [ | 5588 "alleles": [ |
| 5072 "c.7354C\u003eT" | 5589 "c.7354C\u003eT" |
| 5073 ], | 5590 ], |
| 5074 "phased": true, | 5591 "phased": true, |
| 5075 "wildtypeAllele": "C", | 5592 "wildtypeAllele": "C", |
| 5076 "mismatch": false | 5593 "mismatch": false, |
| 5594 "warnings": [] | |
| 5077 }, | 5595 }, |
| 5078 { | 5596 { |
| 5079 "gene": "RYR1", | 5597 "gene": "RYR1", |
| 5080 "chromosome": "chr19", | 5598 "chromosome": "chr19", |
| 5081 "position": 38500642, | 5599 "position": 38500642, |
| 5084 "alleles": [ | 5602 "alleles": [ |
| 5085 "c.7360C\u003eT" | 5603 "c.7360C\u003eT" |
| 5086 ], | 5604 ], |
| 5087 "phased": true, | 5605 "phased": true, |
| 5088 "wildtypeAllele": "C", | 5606 "wildtypeAllele": "C", |
| 5089 "mismatch": false | 5607 "mismatch": false, |
| 5608 "warnings": [] | |
| 5090 }, | 5609 }, |
| 5091 { | 5610 { |
| 5092 "gene": "RYR1", | 5611 "gene": "RYR1", |
| 5093 "chromosome": "chr19", | 5612 "chromosome": "chr19", |
| 5094 "position": 38500643, | 5613 "position": 38500643, |
| 5097 "alleles": [ | 5616 "alleles": [ |
| 5098 "c.7361G\u003eA" | 5617 "c.7361G\u003eA" |
| 5099 ], | 5618 ], |
| 5100 "phased": true, | 5619 "phased": true, |
| 5101 "wildtypeAllele": "G", | 5620 "wildtypeAllele": "G", |
| 5102 "mismatch": false | 5621 "mismatch": false, |
| 5622 "warnings": [] | |
| 5103 }, | 5623 }, |
| 5104 { | 5624 { |
| 5105 "gene": "RYR1", | 5625 "gene": "RYR1", |
| 5106 "chromosome": "chr19", | 5626 "chromosome": "chr19", |
| 5107 "position": 38500654, | 5627 "position": 38500654, |
| 5110 "alleles": [ | 5630 "alleles": [ |
| 5111 "c.7372C\u003eT" | 5631 "c.7372C\u003eT" |
| 5112 ], | 5632 ], |
| 5113 "phased": true, | 5633 "phased": true, |
| 5114 "wildtypeAllele": "C", | 5634 "wildtypeAllele": "C", |
| 5115 "mismatch": false | 5635 "mismatch": false, |
| 5636 "warnings": [] | |
| 5116 }, | 5637 }, |
| 5117 { | 5638 { |
| 5118 "gene": "RYR1", | 5639 "gene": "RYR1", |
| 5119 "chromosome": "chr19", | 5640 "chromosome": "chr19", |
| 5120 "position": 38500655, | 5641 "position": 38500655, |
| 5123 "alleles": [ | 5644 "alleles": [ |
| 5124 "c.7373G\u003eA" | 5645 "c.7373G\u003eA" |
| 5125 ], | 5646 ], |
| 5126 "phased": true, | 5647 "phased": true, |
| 5127 "wildtypeAllele": "G", | 5648 "wildtypeAllele": "G", |
| 5128 "mismatch": false | 5649 "mismatch": false, |
| 5650 "warnings": [] | |
| 5129 }, | 5651 }, |
| 5130 { | 5652 { |
| 5131 "gene": "RYR1", | 5653 "gene": "RYR1", |
| 5132 "chromosome": "chr19", | 5654 "chromosome": "chr19", |
| 5133 "position": 38500898, | 5655 "position": 38500898, |
| 5137 "c.7522C\u003eG", | 5659 "c.7522C\u003eG", |
| 5138 "c.7522C\u003eT" | 5660 "c.7522C\u003eT" |
| 5139 ], | 5661 ], |
| 5140 "phased": true, | 5662 "phased": true, |
| 5141 "wildtypeAllele": "C", | 5663 "wildtypeAllele": "C", |
| 5142 "mismatch": false | 5664 "mismatch": false, |
| 5665 "warnings": [] | |
| 5143 }, | 5666 }, |
| 5144 { | 5667 { |
| 5145 "gene": "RYR1", | 5668 "gene": "RYR1", |
| 5146 "chromosome": "chr19", | 5669 "chromosome": "chr19", |
| 5147 "position": 38500899, | 5670 "position": 38500899, |
| 5150 "alleles": [ | 5673 "alleles": [ |
| 5151 "c.7523G\u003eA" | 5674 "c.7523G\u003eA" |
| 5152 ], | 5675 ], |
| 5153 "phased": true, | 5676 "phased": true, |
| 5154 "wildtypeAllele": "G", | 5677 "wildtypeAllele": "G", |
| 5155 "mismatch": false | 5678 "mismatch": false, |
| 5679 "warnings": [] | |
| 5156 }, | 5680 }, |
| 5157 { | 5681 { |
| 5158 "gene": "RYR1", | 5682 "gene": "RYR1", |
| 5159 "chromosome": "chr19", | 5683 "chromosome": "chr19", |
| 5160 "position": 38512321, | 5684 "position": 38512321, |
| 5163 "alleles": [ | 5687 "alleles": [ |
| 5164 "c.9310G\u003eA" | 5688 "c.9310G\u003eA" |
| 5165 ], | 5689 ], |
| 5166 "phased": true, | 5690 "phased": true, |
| 5167 "wildtypeAllele": "G", | 5691 "wildtypeAllele": "G", |
| 5168 "mismatch": false | 5692 "mismatch": false, |
| 5693 "warnings": [] | |
| 5169 }, | 5694 }, |
| 5170 { | 5695 { |
| 5171 "gene": "RYR1", | 5696 "gene": "RYR1", |
| 5172 "chromosome": "chr19", | 5697 "chromosome": "chr19", |
| 5173 "position": 38543832, | 5698 "position": 38543832, |
| 5176 "alleles": [ | 5701 "alleles": [ |
| 5177 "c.11969G\u003eT" | 5702 "c.11969G\u003eT" |
| 5178 ], | 5703 ], |
| 5179 "phased": true, | 5704 "phased": true, |
| 5180 "wildtypeAllele": "G", | 5705 "wildtypeAllele": "G", |
| 5181 "mismatch": false | 5706 "mismatch": false, |
| 5707 "warnings": [] | |
| 5182 }, | 5708 }, |
| 5183 { | 5709 { |
| 5184 "gene": "RYR1", | 5710 "gene": "RYR1", |
| 5185 "chromosome": "chr19", | 5711 "chromosome": "chr19", |
| 5186 "position": 38580004, | 5712 "position": 38580004, |
| 5189 "alleles": [ | 5715 "alleles": [ |
| 5190 "c.14387A\u003eG" | 5716 "c.14387A\u003eG" |
| 5191 ], | 5717 ], |
| 5192 "phased": true, | 5718 "phased": true, |
| 5193 "wildtypeAllele": "A", | 5719 "wildtypeAllele": "A", |
| 5194 "mismatch": false | 5720 "mismatch": false, |
| 5721 "warnings": [] | |
| 5195 }, | 5722 }, |
| 5196 { | 5723 { |
| 5197 "gene": "RYR1", | 5724 "gene": "RYR1", |
| 5198 "chromosome": "chr19", | 5725 "chromosome": "chr19", |
| 5199 "position": 38580094, | 5726 "position": 38580094, |
| 5202 "alleles": [ | 5729 "alleles": [ |
| 5203 "c.14477C\u003eT" | 5730 "c.14477C\u003eT" |
| 5204 ], | 5731 ], |
| 5205 "phased": true, | 5732 "phased": true, |
| 5206 "wildtypeAllele": "C", | 5733 "wildtypeAllele": "C", |
| 5207 "mismatch": false | 5734 "mismatch": false, |
| 5735 "warnings": [] | |
| 5208 }, | 5736 }, |
| 5209 { | 5737 { |
| 5210 "gene": "RYR1", | 5738 "gene": "RYR1", |
| 5211 "chromosome": "chr19", | 5739 "chromosome": "chr19", |
| 5212 "position": 38580114, | 5740 "position": 38580114, |
| 5215 "alleles": [ | 5743 "alleles": [ |
| 5216 "c.14497C\u003eT" | 5744 "c.14497C\u003eT" |
| 5217 ], | 5745 ], |
| 5218 "phased": true, | 5746 "phased": true, |
| 5219 "wildtypeAllele": "C", | 5747 "wildtypeAllele": "C", |
| 5220 "mismatch": false | 5748 "mismatch": false, |
| 5749 "warnings": [] | |
| 5221 }, | 5750 }, |
| 5222 { | 5751 { |
| 5223 "gene": "RYR1", | 5752 "gene": "RYR1", |
| 5224 "chromosome": "chr19", | 5753 "chromosome": "chr19", |
| 5225 "position": 38580370, | 5754 "position": 38580370, |
| 5228 "alleles": [ | 5757 "alleles": [ |
| 5229 "c.14512C\u003eG" | 5758 "c.14512C\u003eG" |
| 5230 ], | 5759 ], |
| 5231 "phased": true, | 5760 "phased": true, |
| 5232 "wildtypeAllele": "C", | 5761 "wildtypeAllele": "C", |
| 5233 "mismatch": false | 5762 "mismatch": false, |
| 5763 "warnings": [] | |
| 5234 }, | 5764 }, |
| 5235 { | 5765 { |
| 5236 "gene": "RYR1", | 5766 "gene": "RYR1", |
| 5237 "chromosome": "chr19", | 5767 "chromosome": "chr19", |
| 5238 "position": 38580403, | 5768 "position": 38580403, |
| 5241 "alleles": [ | 5771 "alleles": [ |
| 5242 "c.14545G\u003eA" | 5772 "c.14545G\u003eA" |
| 5243 ], | 5773 ], |
| 5244 "phased": true, | 5774 "phased": true, |
| 5245 "wildtypeAllele": "G", | 5775 "wildtypeAllele": "G", |
| 5246 "mismatch": false | 5776 "mismatch": false, |
| 5777 "warnings": [] | |
| 5247 }, | 5778 }, |
| 5248 { | 5779 { |
| 5249 "gene": "RYR1", | 5780 "gene": "RYR1", |
| 5250 "chromosome": "chr19", | 5781 "chromosome": "chr19", |
| 5251 "position": 38580440, | 5782 "position": 38580440, |
| 5254 "alleles": [ | 5785 "alleles": [ |
| 5255 "c.14582G\u003eA" | 5786 "c.14582G\u003eA" |
| 5256 ], | 5787 ], |
| 5257 "phased": true, | 5788 "phased": true, |
| 5258 "wildtypeAllele": "G", | 5789 "wildtypeAllele": "G", |
| 5259 "mismatch": false | 5790 "mismatch": false, |
| 5791 "warnings": [] | |
| 5260 }, | 5792 }, |
| 5261 { | 5793 { |
| 5262 "gene": "RYR1", | 5794 "gene": "RYR1", |
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| 5539 { | 6093 { |
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| 5565 { | 6121 { |
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| 5739 { | 6308 { |
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| 5752 { | 6322 { |
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| 5766 { | 6337 { |
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| 5783 "rs4149056T/rs4149056T" | 6355 "rs4149056T/rs4149056T" |
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| 6398 "Normal Metabolizer" | |
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| 6402 "Normal Metabolizer" | |
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| 5830 ], | 6406 ], |
| 5831 "diplotypes": [ | 6407 "diplotypes": [ |
| 5832 { | 6408 { |
| 5841 "name": "*1", | 6417 "name": "*1", |
| 5842 "function": "Normal Function", | 6418 "function": "Normal Function", |
| 5843 "reference": true | 6419 "reference": true |
| 5844 }, | 6420 }, |
| 5845 "gene": "TPMT", | 6421 "gene": "TPMT", |
| 5846 "phenotype": "Normal Metabolizer", | 6422 "phenotypes": [ |
| 6423 "Normal Metabolizer" | |
| 6424 ], | |
| 5847 "variant": null, | 6425 "variant": null, |
| 5848 "lookupKey": "Normal Metabolizer", | 6426 "lookupKey": [ |
| 6427 "Normal Metabolizer" | |
| 6428 ], | |
| 5849 "label": "*1/*1" | 6429 "label": "*1/*1" |
| 5850 } | 6430 } |
| 5851 ], | 6431 ], |
| 5852 "variants": [ | 6432 "variants": [ |
| 5853 { | 6433 { |
| 5861 "*3C", | 6441 "*3C", |
| 5862 "*41" | 6442 "*41" |
| 5863 ], | 6443 ], |
| 5864 "phased": true, | 6444 "phased": true, |
| 5865 "wildtypeAllele": "T", | 6445 "wildtypeAllele": "T", |
| 5866 "mismatch": false | 6446 "mismatch": false, |
| 6447 "warnings": [] | |
| 5867 }, | 6448 }, |
| 5868 { | 6449 { |
| 5869 "gene": "TPMT", | 6450 "gene": "TPMT", |
| 5870 "chromosome": "chr6", | 6451 "chromosome": "chr6", |
| 5871 "position": 18130694, | 6452 "position": 18130694, |
| 5874 "alleles": [ | 6455 "alleles": [ |
| 5875 "*20" | 6456 "*20" |
| 5876 ], | 6457 ], |
| 5877 "phased": true, | 6458 "phased": true, |
| 5878 "wildtypeAllele": "T", | 6459 "wildtypeAllele": "T", |
| 5879 "mismatch": false | 6460 "mismatch": false, |
| 6461 "warnings": [] | |
| 5880 }, | 6462 }, |
| 5881 { | 6463 { |
| 5882 "gene": "TPMT", | 6464 "gene": "TPMT", |
| 5883 "chromosome": "chr6", | 6465 "chromosome": "chr6", |
| 5884 "position": 18130725, | 6466 "position": 18130725, |
| 5887 "alleles": [ | 6469 "alleles": [ |
| 5888 "*7" | 6470 "*7" |
| 5889 ], | 6471 ], |
| 5890 "phased": true, | 6472 "phased": true, |
| 5891 "wildtypeAllele": "A", | 6473 "wildtypeAllele": "A", |
| 5892 "mismatch": false | 6474 "mismatch": false, |
| 6475 "warnings": [] | |
| 5893 }, | 6476 }, |
| 5894 { | 6477 { |
| 5895 "gene": "TPMT", | 6478 "gene": "TPMT", |
| 5896 "chromosome": "chr6", | 6479 "chromosome": "chr6", |
| 5897 "position": 18130729, | 6480 "position": 18130729, |
| 5900 "alleles": [ | 6483 "alleles": [ |
| 5901 "*40" | 6484 "*40" |
| 5902 ], | 6485 ], |
| 5903 "phased": true, | 6486 "phased": true, |
| 5904 "wildtypeAllele": "C", | 6487 "wildtypeAllele": "C", |
| 5905 "mismatch": false | 6488 "mismatch": false, |
| 6489 "warnings": [] | |
| 5906 }, | 6490 }, |
| 5907 { | 6491 { |
| 5908 "gene": "TPMT", | 6492 "gene": "TPMT", |
| 5909 "chromosome": "chr6", | 6493 "chromosome": "chr6", |
| 5910 "position": 18130758, | 6494 "position": 18130758, |
| 5913 "alleles": [ | 6497 "alleles": [ |
| 5914 "*37" | 6498 "*37" |
| 5915 ], | 6499 ], |
| 5916 "phased": true, | 6500 "phased": true, |
| 5917 "wildtypeAllele": "A", | 6501 "wildtypeAllele": "A", |
| 5918 "mismatch": false | 6502 "mismatch": false, |
| 6503 "warnings": [] | |
| 5919 }, | 6504 }, |
| 5920 { | 6505 { |
| 5921 "gene": "TPMT", | 6506 "gene": "TPMT", |
| 5922 "chromosome": "chr6", | 6507 "chromosome": "chr6", |
| 5923 "position": 18130762, | 6508 "position": 18130762, |
| 5926 "alleles": [ | 6511 "alleles": [ |
| 5927 "*8" | 6512 "*8" |
| 5928 ], | 6513 ], |
| 5929 "phased": true, | 6514 "phased": true, |
| 5930 "wildtypeAllele": "C", | 6515 "wildtypeAllele": "C", |
| 5931 "mismatch": false | 6516 "mismatch": false, |
| 6517 "warnings": [] | |
| 5932 }, | 6518 }, |
| 5933 { | 6519 { |
| 5934 "gene": "TPMT", | 6520 "gene": "TPMT", |
| 5935 "chromosome": "chr6", | 6521 "chromosome": "chr6", |
| 5936 "position": 18130772, | 6522 "position": 18130772, |
| 5939 "alleles": [ | 6525 "alleles": [ |
| 5940 "*25" | 6526 "*25" |
| 5941 ], | 6527 ], |
| 5942 "phased": true, | 6528 "phased": true, |
| 5943 "wildtypeAllele": "A", | 6529 "wildtypeAllele": "A", |
| 5944 "mismatch": false | 6530 "mismatch": false, |
| 6531 "warnings": [] | |
| 5945 }, | 6532 }, |
| 5946 { | 6533 { |
| 5947 "gene": "TPMT", | 6534 "gene": "TPMT", |
| 5948 "chromosome": "chr6", | 6535 "chromosome": "chr6", |
| 5949 "position": 18130781, | 6536 "position": 18130781, |
| 5952 "alleles": [ | 6539 "alleles": [ |
| 5953 "*4" | 6540 "*4" |
| 5954 ], | 6541 ], |
| 5955 "phased": true, | 6542 "phased": true, |
| 5956 "wildtypeAllele": "C", | 6543 "wildtypeAllele": "C", |
| 5957 "mismatch": false | 6544 "mismatch": false, |
| 6545 "warnings": [] | |
| 5958 }, | 6546 }, |
| 5959 { | 6547 { |
| 5960 "gene": "TPMT", | 6548 "gene": "TPMT", |
| 5961 "chromosome": "chr6", | 6549 "chromosome": "chr6", |
| 5962 "position": 18132136, | 6550 "position": 18132136, |
| 5965 "alleles": [ | 6553 "alleles": [ |
| 5966 "*26" | 6554 "*26" |
| 5967 ], | 6555 ], |
| 5968 "phased": true, | 6556 "phased": true, |
| 5969 "wildtypeAllele": "A", | 6557 "wildtypeAllele": "A", |
| 5970 "mismatch": false | 6558 "mismatch": false, |
| 6559 "warnings": [] | |
| 5971 }, | 6560 }, |
| 5972 { | 6561 { |
| 5973 "gene": "TPMT", | 6562 "gene": "TPMT", |
| 5974 "chromosome": "chr6", | 6563 "chromosome": "chr6", |
| 5975 "position": 18132147, | 6564 "position": 18132147, |
| 5978 "alleles": [ | 6567 "alleles": [ |
| 5979 "*31" | 6568 "*31" |
| 5980 ], | 6569 ], |
| 5981 "phased": true, | 6570 "phased": true, |
| 5982 "wildtypeAllele": "A", | 6571 "wildtypeAllele": "A", |
| 5983 "mismatch": false | 6572 "mismatch": false, |
| 6573 "warnings": [] | |
| 5984 }, | 6574 }, |
| 5985 { | 6575 { |
| 5986 "gene": "TPMT", | 6576 "gene": "TPMT", |
| 5987 "chromosome": "chr6", | 6577 "chromosome": "chr6", |
| 5988 "position": 18132163, | 6578 "position": 18132163, |
| 5991 "alleles": [ | 6581 "alleles": [ |
| 5992 "*36" | 6582 "*36" |
| 5993 ], | 6583 ], |
| 5994 "phased": true, | 6584 "phased": true, |
| 5995 "wildtypeAllele": "C", | 6585 "wildtypeAllele": "C", |
| 5996 "mismatch": false | 6586 "mismatch": false, |
| 6587 "warnings": [] | |
| 5997 }, | 6588 }, |
| 5998 { | 6589 { |
| 5999 "gene": "TPMT", | 6590 "gene": "TPMT", |
| 6000 "chromosome": "chr6", | 6591 "chromosome": "chr6", |
| 6001 "position": 18133845, | 6592 "position": 18133845, |
| 6004 "alleles": [ | 6595 "alleles": [ |
| 6005 "*6" | 6596 "*6" |
| 6006 ], | 6597 ], |
| 6007 "phased": true, | 6598 "phased": true, |
| 6008 "wildtypeAllele": "T", | 6599 "wildtypeAllele": "T", |
| 6009 "mismatch": false | 6600 "mismatch": false, |
| 6601 "warnings": [] | |
| 6010 }, | 6602 }, |
| 6011 { | 6603 { |
| 6012 "gene": "TPMT", | 6604 "gene": "TPMT", |
| 6013 "chromosome": "chr6", | 6605 "chromosome": "chr6", |
| 6014 "position": 18133847, | 6606 "position": 18133847, |
| 6017 "alleles": [ | 6609 "alleles": [ |
| 6018 "*24" | 6610 "*24" |
| 6019 ], | 6611 ], |
| 6020 "phased": true, | 6612 "phased": true, |
| 6021 "wildtypeAllele": "C", | 6613 "wildtypeAllele": "C", |
| 6022 "mismatch": false | 6614 "mismatch": false, |
| 6615 "warnings": [] | |
| 6023 }, | 6616 }, |
| 6024 { | 6617 { |
| 6025 "gene": "TPMT", | 6618 "gene": "TPMT", |
| 6026 "chromosome": "chr6", | 6619 "chromosome": "chr6", |
| 6027 "position": 18133870, | 6620 "position": 18133870, |
| 6030 "alleles": [ | 6623 "alleles": [ |
| 6031 "*38" | 6624 "*38" |
| 6032 ], | 6625 ], |
| 6033 "phased": true, | 6626 "phased": true, |
| 6034 "wildtypeAllele": "A", | 6627 "wildtypeAllele": "A", |
| 6035 "mismatch": false | 6628 "mismatch": false, |
| 6629 "warnings": [] | |
| 6036 }, | 6630 }, |
| 6037 { | 6631 { |
| 6038 "gene": "TPMT", | 6632 "gene": "TPMT", |
| 6039 "chromosome": "chr6", | 6633 "chromosome": "chr6", |
| 6040 "position": 18133884, | 6634 "position": 18133884, |
| 6043 "alleles": [ | 6637 "alleles": [ |
| 6044 "*23" | 6638 "*23" |
| 6045 ], | 6639 ], |
| 6046 "phased": true, | 6640 "phased": true, |
| 6047 "wildtypeAllele": "G", | 6641 "wildtypeAllele": "G", |
| 6048 "mismatch": false | 6642 "mismatch": false, |
| 6643 "warnings": [] | |
| 6049 }, | 6644 }, |
| 6050 { | 6645 { |
| 6051 "gene": "TPMT", | 6646 "gene": "TPMT", |
| 6052 "chromosome": "chr6", | 6647 "chromosome": "chr6", |
| 6053 "position": 18133887, | 6648 "position": 18133887, |
| 6056 "alleles": [ | 6651 "alleles": [ |
| 6057 "*44" | 6652 "*44" |
| 6058 ], | 6653 ], |
| 6059 "phased": true, | 6654 "phased": true, |
| 6060 "wildtypeAllele": "T", | 6655 "wildtypeAllele": "T", |
| 6061 "mismatch": false | 6656 "mismatch": false, |
| 6657 "warnings": [] | |
| 6062 }, | 6658 }, |
| 6063 { | 6659 { |
| 6064 "gene": "TPMT", | 6660 "gene": "TPMT", |
| 6065 "chromosome": "chr6", | 6661 "chromosome": "chr6", |
| 6066 "position": 18133890, | 6662 "position": 18133890, |
| 6069 "alleles": [ | 6665 "alleles": [ |
| 6070 "*15" | 6666 "*15" |
| 6071 ], | 6667 ], |
| 6072 "phased": true, | 6668 "phased": true, |
| 6073 "wildtypeAllele": "C", | 6669 "wildtypeAllele": "C", |
| 6074 "mismatch": false | 6670 "mismatch": false, |
| 6671 "warnings": [] | |
| 6075 }, | 6672 }, |
| 6076 { | 6673 { |
| 6077 "gene": "TPMT", | 6674 "gene": "TPMT", |
| 6078 "chromosome": "chr6", | 6675 "chromosome": "chr6", |
| 6079 "position": 18138969, | 6676 "position": 18138969, |
| 6083 "*16", | 6680 "*16", |
| 6084 "*22" | 6681 "*22" |
| 6085 ], | 6682 ], |
| 6086 "phased": true, | 6683 "phased": true, |
| 6087 "wildtypeAllele": "C", | 6684 "wildtypeAllele": "C", |
| 6088 "mismatch": false | 6685 "mismatch": false, |
| 6686 "warnings": [] | |
| 6089 }, | 6687 }, |
| 6090 { | 6688 { |
| 6091 "gene": "TPMT", | 6689 "gene": "TPMT", |
| 6092 "chromosome": "chr6", | 6690 "chromosome": "chr6", |
| 6093 "position": 18138970, | 6691 "position": 18138970, |
| 6096 "alleles": [ | 6694 "alleles": [ |
| 6097 "*33" | 6695 "*33" |
| 6098 ], | 6696 ], |
| 6099 "phased": true, | 6697 "phased": true, |
| 6100 "wildtypeAllele": "G", | 6698 "wildtypeAllele": "G", |
| 6101 "mismatch": false | 6699 "mismatch": false, |
| 6700 "warnings": [] | |
| 6102 }, | 6701 }, |
| 6103 { | 6702 { |
| 6104 "gene": "TPMT", | 6703 "gene": "TPMT", |
| 6105 "chromosome": "chr6", | 6704 "chromosome": "chr6", |
| 6106 "position": 18138997, | 6705 "position": 18138997, |
| 6110 "*3A", | 6709 "*3A", |
| 6111 "*3B" | 6710 "*3B" |
| 6112 ], | 6711 ], |
| 6113 "phased": true, | 6712 "phased": true, |
| 6114 "wildtypeAllele": "C", | 6713 "wildtypeAllele": "C", |
| 6115 "mismatch": false | 6714 "mismatch": false, |
| 6715 "warnings": [] | |
| 6116 }, | 6716 }, |
| 6117 { | 6717 { |
| 6118 "gene": "TPMT", | 6718 "gene": "TPMT", |
| 6119 "chromosome": "chr6", | 6719 "chromosome": "chr6", |
| 6120 "position": 18139027, | 6720 "position": 18139027, |
| 6123 "alleles": [ | 6723 "alleles": [ |
| 6124 "*10" | 6724 "*10" |
| 6125 ], | 6725 ], |
| 6126 "phased": true, | 6726 "phased": true, |
| 6127 "wildtypeAllele": "C", | 6727 "wildtypeAllele": "C", |
| 6128 "mismatch": false | 6728 "mismatch": false, |
| 6729 "warnings": [] | |
| 6129 }, | 6730 }, |
| 6130 { | 6731 { |
| 6131 "gene": "TPMT", | 6732 "gene": "TPMT", |
| 6132 "chromosome": "chr6", | 6733 "chromosome": "chr6", |
| 6133 "position": 18139689, | 6734 "position": 18139689, |
| 6136 "alleles": [ | 6737 "alleles": [ |
| 6137 "*11" | 6738 "*11" |
| 6138 ], | 6739 ], |
| 6139 "phased": true, | 6740 "phased": true, |
| 6140 "wildtypeAllele": "C", | 6741 "wildtypeAllele": "C", |
| 6141 "mismatch": false | 6742 "mismatch": false, |
| 6743 "warnings": [] | |
| 6142 }, | 6744 }, |
| 6143 { | 6745 { |
| 6144 "gene": "TPMT", | 6746 "gene": "TPMT", |
| 6145 "chromosome": "chr6", | 6747 "chromosome": "chr6", |
| 6146 "position": 18139710, | 6748 "position": 18139710, |
| 6149 "alleles": [ | 6751 "alleles": [ |
| 6150 "*12" | 6752 "*12" |
| 6151 ], | 6753 ], |
| 6152 "phased": true, | 6754 "phased": true, |
| 6153 "wildtypeAllele": "G", | 6755 "wildtypeAllele": "G", |
| 6154 "mismatch": false | 6756 "mismatch": false, |
| 6757 "warnings": [] | |
| 6155 }, | 6758 }, |
| 6156 { | 6759 { |
| 6157 "gene": "TPMT", | 6760 "gene": "TPMT", |
| 6158 "chromosome": "chr6", | 6761 "chromosome": "chr6", |
| 6159 "position": 18143597, | 6762 "position": 18143597, |
| 6162 "alleles": [ | 6765 "alleles": [ |
| 6163 "*19" | 6766 "*19" |
| 6164 ], | 6767 ], |
| 6165 "phased": true, | 6768 "phased": true, |
| 6166 "wildtypeAllele": "T", | 6769 "wildtypeAllele": "T", |
| 6167 "mismatch": false | 6770 "mismatch": false, |
| 6771 "warnings": [] | |
| 6168 }, | 6772 }, |
| 6169 { | 6773 { |
| 6170 "gene": "TPMT", | 6774 "gene": "TPMT", |
| 6171 "chromosome": "chr6", | 6775 "chromosome": "chr6", |
| 6172 "position": 18143606, | 6776 "position": 18143606, |
| 6175 "alleles": [ | 6779 "alleles": [ |
| 6176 "*9" | 6780 "*9" |
| 6177 ], | 6781 ], |
| 6178 "phased": true, | 6782 "phased": true, |
| 6179 "wildtypeAllele": "T", | 6783 "wildtypeAllele": "T", |
| 6180 "mismatch": false | 6784 "mismatch": false, |
| 6785 "warnings": [] | |
| 6181 }, | 6786 }, |
| 6182 { | 6787 { |
| 6183 "gene": "TPMT", | 6788 "gene": "TPMT", |
| 6184 "chromosome": "chr6", | 6789 "chromosome": "chr6", |
| 6185 "position": 18143613, | 6790 "position": 18143613, |
| 6188 "alleles": [ | 6793 "alleles": [ |
| 6189 "*28" | 6794 "*28" |
| 6190 ], | 6795 ], |
| 6191 "phased": true, | 6796 "phased": true, |
| 6192 "wildtypeAllele": "C", | 6797 "wildtypeAllele": "C", |
| 6193 "mismatch": false | 6798 "mismatch": false, |
| 6799 "warnings": [] | |
| 6194 }, | 6800 }, |
| 6195 { | 6801 { |
| 6196 "gene": "TPMT", | 6802 "gene": "TPMT", |
| 6197 "chromosome": "chr6", | 6803 "chromosome": "chr6", |
| 6198 "position": 18143622, | 6804 "position": 18143622, |
| 6201 "alleles": [ | 6807 "alleles": [ |
| 6202 "*32" | 6808 "*32" |
| 6203 ], | 6809 ], |
| 6204 "phased": true, | 6810 "phased": true, |
| 6205 "wildtypeAllele": "C", | 6811 "wildtypeAllele": "C", |
| 6206 "mismatch": false | 6812 "mismatch": false, |
| 6813 "warnings": [] | |
| 6207 }, | 6814 }, |
| 6208 { | 6815 { |
| 6209 "gene": "TPMT", | 6816 "gene": "TPMT", |
| 6210 "chromosome": "chr6", | 6817 "chromosome": "chr6", |
| 6211 "position": 18143643, | 6818 "position": 18143643, |
| 6214 "alleles": [ | 6821 "alleles": [ |
| 6215 "*27" | 6822 "*27" |
| 6216 ], | 6823 ], |
| 6217 "phased": true, | 6824 "phased": true, |
| 6218 "wildtypeAllele": "A", | 6825 "wildtypeAllele": "A", |
| 6219 "mismatch": false | 6826 "mismatch": false, |
| 6827 "warnings": [] | |
| 6220 }, | 6828 }, |
| 6221 { | 6829 { |
| 6222 "gene": "TPMT", | 6830 "gene": "TPMT", |
| 6223 "chromosome": "chr6", | 6831 "chromosome": "chr6", |
| 6224 "position": 18143700, | 6832 "position": 18143700, |
| 6227 "alleles": [ | 6835 "alleles": [ |
| 6228 "*43" | 6836 "*43" |
| 6229 ], | 6837 ], |
| 6230 "phased": true, | 6838 "phased": true, |
| 6231 "wildtypeAllele": "C", | 6839 "wildtypeAllele": "C", |
| 6232 "mismatch": false | 6840 "mismatch": false, |
| 6841 "warnings": [] | |
| 6233 }, | 6842 }, |
| 6234 { | 6843 { |
| 6235 "gene": "TPMT", | 6844 "gene": "TPMT", |
| 6236 "chromosome": "chr6", | 6845 "chromosome": "chr6", |
| 6237 "position": 18143718, | 6846 "position": 18143718, |
| 6240 "alleles": [ | 6849 "alleles": [ |
| 6241 "*34" | 6850 "*34" |
| 6242 ], | 6851 ], |
| 6243 "phased": true, | 6852 "phased": true, |
| 6244 "wildtypeAllele": "G", | 6853 "wildtypeAllele": "G", |
| 6245 "mismatch": false | 6854 "mismatch": false, |
| 6855 "warnings": [] | |
| 6246 }, | 6856 }, |
| 6247 { | 6857 { |
| 6248 "gene": "TPMT", | 6858 "gene": "TPMT", |
| 6249 "chromosome": "chr6", | 6859 "chromosome": "chr6", |
| 6250 "position": 18143724, | 6860 "position": 18143724, |
| 6253 "alleles": [ | 6863 "alleles": [ |
| 6254 "*2" | 6864 "*2" |
| 6255 ], | 6865 ], |
| 6256 "phased": true, | 6866 "phased": true, |
| 6257 "wildtypeAllele": "C", | 6867 "wildtypeAllele": "C", |
| 6258 "mismatch": false | 6868 "mismatch": false, |
| 6869 "warnings": [] | |
| 6259 }, | 6870 }, |
| 6260 { | 6871 { |
| 6261 "gene": "TPMT", | 6872 "gene": "TPMT", |
| 6262 "chromosome": "chr6", | 6873 "chromosome": "chr6", |
| 6263 "position": 18143728, | 6874 "position": 18143728, |
| 6266 "alleles": [ | 6877 "alleles": [ |
| 6267 "*43" | 6878 "*43" |
| 6268 ], | 6879 ], |
| 6269 "phased": true, | 6880 "phased": true, |
| 6270 "wildtypeAllele": "C", | 6881 "wildtypeAllele": "C", |
| 6271 "mismatch": false | 6882 "mismatch": false, |
| 6883 "warnings": [] | |
| 6272 }, | 6884 }, |
| 6273 { | 6885 { |
| 6274 "gene": "TPMT", | 6886 "gene": "TPMT", |
| 6275 "chromosome": "chr6", | 6887 "chromosome": "chr6", |
| 6276 "position": 18147838, | 6888 "position": 18147838, |
| 6279 "alleles": [ | 6891 "alleles": [ |
| 6280 "*39" | 6892 "*39" |
| 6281 ], | 6893 ], |
| 6282 "phased": true, | 6894 "phased": true, |
| 6283 "wildtypeAllele": "G", | 6895 "wildtypeAllele": "G", |
| 6284 "mismatch": false | 6896 "mismatch": false, |
| 6897 "warnings": [] | |
| 6285 }, | 6898 }, |
| 6286 { | 6899 { |
| 6287 "gene": "TPMT", | 6900 "gene": "TPMT", |
| 6288 "chromosome": "chr6", | 6901 "chromosome": "chr6", |
| 6289 "position": 18147845, | 6902 "position": 18147845, |
| 6292 "alleles": [ | 6905 "alleles": [ |
| 6293 "*18" | 6906 "*18" |
| 6294 ], | 6907 ], |
| 6295 "phased": true, | 6908 "phased": true, |
| 6296 "wildtypeAllele": "C", | 6909 "wildtypeAllele": "C", |
| 6297 "mismatch": false | 6910 "mismatch": false, |
| 6911 "warnings": [] | |
| 6298 }, | 6912 }, |
| 6299 { | 6913 { |
| 6300 "gene": "TPMT", | 6914 "gene": "TPMT", |
| 6301 "chromosome": "chr6", | 6915 "chromosome": "chr6", |
| 6302 "position": 18147851, | 6916 "position": 18147851, |
| 6305 "alleles": [ | 6919 "alleles": [ |
| 6306 "*21" | 6920 "*21" |
| 6307 ], | 6921 ], |
| 6308 "phased": true, | 6922 "phased": true, |
| 6309 "wildtypeAllele": "G", | 6923 "wildtypeAllele": "G", |
| 6310 "mismatch": false | 6924 "mismatch": false, |
| 6925 "warnings": [] | |
| 6311 }, | 6926 }, |
| 6312 { | 6927 { |
| 6313 "gene": "TPMT", | 6928 "gene": "TPMT", |
| 6314 "chromosome": "chr6", | 6929 "chromosome": "chr6", |
| 6315 "position": 18147856, | 6930 "position": 18147856, |
| 6318 "alleles": [ | 6933 "alleles": [ |
| 6319 "*35" | 6934 "*35" |
| 6320 ], | 6935 ], |
| 6321 "phased": true, | 6936 "phased": true, |
| 6322 "wildtypeAllele": "A", | 6937 "wildtypeAllele": "A", |
| 6323 "mismatch": false | 6938 "mismatch": false, |
| 6939 "warnings": [] | |
| 6324 }, | 6940 }, |
| 6325 { | 6941 { |
| 6326 "gene": "TPMT", | 6942 "gene": "TPMT", |
| 6327 "chromosome": "chr6", | 6943 "chromosome": "chr6", |
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| 6332 "*5" | 6948 "*5" |
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| 6334 "phased": true, | 6950 "phased": true, |
| 6335 "wildtypeAllele": "A", | 6951 "wildtypeAllele": "A", |
| 6336 "mismatch": false | 6952 "mismatch": false, |
| 6953 "warnings": [] | |
| 6337 }, | 6954 }, |
| 6338 { | 6955 { |
| 6339 "gene": "TPMT", | 6956 "gene": "TPMT", |
| 6340 "chromosome": "chr6", | 6957 "chromosome": "chr6", |
| 6341 "position": 18149004, | 6958 "position": 18149004, |
| 6344 "alleles": [ | 6961 "alleles": [ |
| 6345 "*17" | 6962 "*17" |
| 6346 ], | 6963 ], |
| 6347 "phased": true, | 6964 "phased": true, |
| 6348 "wildtypeAllele": "G", | 6965 "wildtypeAllele": "G", |
| 6349 "mismatch": false | 6966 "mismatch": false, |
| 6967 "warnings": [] | |
| 6350 }, | 6968 }, |
| 6351 { | 6969 { |
| 6352 "gene": "TPMT", | 6970 "gene": "TPMT", |
| 6353 "chromosome": "chr6", | 6971 "chromosome": "chr6", |
| 6354 "position": 18149022, | 6972 "position": 18149022, |
| 6357 "alleles": [ | 6975 "alleles": [ |
| 6358 "*30" | 6976 "*30" |
| 6359 ], | 6977 ], |
| 6360 "phased": true, | 6978 "phased": true, |
| 6361 "wildtypeAllele": "C", | 6979 "wildtypeAllele": "C", |
| 6362 "mismatch": false | 6980 "mismatch": false, |
| 6981 "warnings": [] | |
| 6363 }, | 6982 }, |
| 6364 { | 6983 { |
| 6365 "gene": "TPMT", | 6984 "gene": "TPMT", |
| 6366 "chromosome": "chr6", | 6985 "chromosome": "chr6", |
| 6367 "position": 18149032, | 6986 "position": 18149032, |
| 6370 "alleles": [ | 6989 "alleles": [ |
| 6371 "*42" | 6990 "*42" |
| 6372 ], | 6991 ], |
| 6373 "phased": true, | 6992 "phased": true, |
| 6374 "wildtypeAllele": "C", | 6993 "wildtypeAllele": "C", |
| 6375 "mismatch": false | 6994 "mismatch": false, |
| 6995 "warnings": [] | |
| 6376 }, | 6996 }, |
| 6377 { | 6997 { |
| 6378 "gene": "TPMT", | 6998 "gene": "TPMT", |
| 6379 "chromosome": "chr6", | 6999 "chromosome": "chr6", |
| 6380 "position": 18149045, | 7000 "position": 18149045, |
| 6383 "alleles": [ | 7003 "alleles": [ |
| 6384 "*13" | 7004 "*13" |
| 6385 ], | 7005 ], |
| 6386 "phased": true, | 7006 "phased": true, |
| 6387 "wildtypeAllele": "T", | 7007 "wildtypeAllele": "T", |
| 6388 "mismatch": false | 7008 "mismatch": false, |
| 7009 "warnings": [] | |
| 6389 }, | 7010 }, |
| 6390 { | 7011 { |
| 6391 "gene": "TPMT", | 7012 "gene": "TPMT", |
| 6392 "chromosome": "chr6", | 7013 "chromosome": "chr6", |
| 6393 "position": 18149126, | 7014 "position": 18149126, |
| 6396 "alleles": [ | 7017 "alleles": [ |
| 6397 "*29" | 7018 "*29" |
| 6398 ], | 7019 ], |
| 6399 "phased": true, | 7020 "phased": true, |
| 6400 "wildtypeAllele": "A", | 7021 "wildtypeAllele": "A", |
| 6401 "mismatch": false | 7022 "mismatch": false, |
| 7023 "warnings": [] | |
| 6402 }, | 7024 }, |
| 6403 { | 7025 { |
| 6404 "gene": "TPMT", | 7026 "gene": "TPMT", |
| 6405 "chromosome": "chr6", | 7027 "chromosome": "chr6", |
| 6406 "position": 18149127, | 7028 "position": 18149127, |
| 6409 "alleles": [ | 7031 "alleles": [ |
| 6410 "*14" | 7032 "*14" |
| 6411 ], | 7033 ], |
| 6412 "phased": true, | 7034 "phased": true, |
| 6413 "wildtypeAllele": "T", | 7035 "wildtypeAllele": "T", |
| 6414 "mismatch": false | 7036 "mismatch": false, |
| 7037 "warnings": [] | |
| 6415 } | 7038 } |
| 6416 ], | 7039 ], |
| 6417 "variantsOfInterest": [], | 7040 "variantsOfInterest": [], |
| 6418 "highlightedVariants": [] | 7041 "highlightedVariants": [] |
| 6419 }, | 7042 }, |
| 6454 "name": "*1", | 7077 "name": "*1", |
| 6455 "function": "Normal function", | 7078 "function": "Normal function", |
| 6456 "reference": true | 7079 "reference": true |
| 6457 }, | 7080 }, |
| 6458 "gene": "UGT1A1", | 7081 "gene": "UGT1A1", |
| 6459 "phenotype": "Normal Metabolizer", | 7082 "phenotypes": [ |
| 7083 "Normal Metabolizer" | |
| 7084 ], | |
| 6460 "variant": null, | 7085 "variant": null, |
| 6461 "lookupKey": "Normal Metabolizer", | 7086 "lookupKey": [ |
| 7087 "Normal Metabolizer" | |
| 7088 ], | |
| 6462 "label": "*1/*1" | 7089 "label": "*1/*1" |
| 6463 } | 7090 } |
| 6464 ], | 7091 ], |
| 6465 "diplotypes": [ | 7092 "diplotypes": [ |
| 6466 { | 7093 { |
| 6475 "name": "*1", | 7102 "name": "*1", |
| 6476 "function": "Normal function", | 7103 "function": "Normal function", |
| 6477 "reference": true | 7104 "reference": true |
| 6478 }, | 7105 }, |
| 6479 "gene": "UGT1A1", | 7106 "gene": "UGT1A1", |
| 6480 "phenotype": "Normal Metabolizer", | 7107 "phenotypes": [ |
| 7108 "Normal Metabolizer" | |
| 7109 ], | |
| 6481 "variant": null, | 7110 "variant": null, |
| 6482 "lookupKey": "Normal Metabolizer", | 7111 "lookupKey": [ |
| 7112 "Normal Metabolizer" | |
| 7113 ], | |
| 6483 "label": "*1/*1" | 7114 "label": "*1/*1" |
| 6484 } | 7115 } |
| 6485 ], | 7116 ], |
| 6486 "variants": [ | 7117 "variants": [ |
| 6487 { | 7118 { |
| 6495 "*80+*28", | 7126 "*80+*28", |
| 6496 "*80+*37" | 7127 "*80+*37" |
| 6497 ], | 7128 ], |
| 6498 "phased": true, | 7129 "phased": true, |
| 6499 "wildtypeAllele": "C", | 7130 "wildtypeAllele": "C", |
| 6500 "mismatch": false | 7131 "mismatch": false, |
| 7132 "warnings": [] | |
| 6501 }, | 7133 }, |
| 6502 { | 7134 { |
| 6503 "gene": "UGT1A1", | 7135 "gene": "UGT1A1", |
| 6504 "chromosome": "chr2", | 7136 "chromosome": "chr2", |
| 6505 "position": 233760233, | 7137 "position": 233760233, |
| 6512 "*80+*28", | 7144 "*80+*28", |
| 6513 "*80+*37" | 7145 "*80+*37" |
| 6514 ], | 7146 ], |
| 6515 "phased": true, | 7147 "phased": true, |
| 6516 "wildtypeAllele": "CAT", | 7148 "wildtypeAllele": "CAT", |
| 6517 "mismatch": false | 7149 "mismatch": false, |
| 7150 "warnings": [] | |
| 6518 }, | 7151 }, |
| 6519 { | 7152 { |
| 6520 "gene": "UGT1A1", | 7153 "gene": "UGT1A1", |
| 6521 "chromosome": "chr2", | 7154 "chromosome": "chr2", |
| 6522 "position": 233760498, | 7155 "position": 233760498, |
| 6525 "alleles": [ | 7158 "alleles": [ |
| 6526 "*6" | 7159 "*6" |
| 6527 ], | 7160 ], |
| 6528 "phased": true, | 7161 "phased": true, |
| 6529 "wildtypeAllele": "G", | 7162 "wildtypeAllele": "G", |
| 6530 "mismatch": false | 7163 "mismatch": false, |
| 7164 "warnings": [] | |
| 6531 }, | 7165 }, |
| 6532 { | 7166 { |
| 6533 "gene": "UGT1A1", | 7167 "gene": "UGT1A1", |
| 6534 "chromosome": "chr2", | 7168 "chromosome": "chr2", |
| 6535 "position": 233760973, | 7169 "position": 233760973, |
| 6538 "alleles": [ | 7172 "alleles": [ |
| 6539 "*27" | 7173 "*27" |
| 6540 ], | 7174 ], |
| 6541 "phased": true, | 7175 "phased": true, |
| 6542 "wildtypeAllele": "C", | 7176 "wildtypeAllele": "C", |
| 6543 "mismatch": false | 7177 "mismatch": false, |
| 7178 "warnings": [] | |
| 6544 } | 7179 } |
| 6545 ], | 7180 ], |
| 6546 "variantsOfInterest": [], | 7181 "variantsOfInterest": [], |
| 6547 "highlightedVariants": [] | 7182 "highlightedVariants": [] |
| 6548 }, | 7183 }, |
| 6598 "name": "rs9923231 reference (C)", | 7233 "name": "rs9923231 reference (C)", |
| 6599 "function": null, | 7234 "function": null, |
| 6600 "reference": true | 7235 "reference": true |
| 6601 }, | 7236 }, |
| 6602 "gene": "VKORC1", | 7237 "gene": "VKORC1", |
| 6603 "phenotype": null, | 7238 "phenotypes": [], |
| 6604 "variant": null, | 7239 "variant": null, |
| 6605 "lookupKey": null, | 7240 "lookupKey": [], |
| 6606 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7241 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
| 6607 } | 7242 } |
| 6608 ], | 7243 ], |
| 6609 "diplotypes": [ | 7244 "diplotypes": [ |
| 6610 { | 7245 { |
| 6619 "name": "rs9923231 reference (C)", | 7254 "name": "rs9923231 reference (C)", |
| 6620 "function": null, | 7255 "function": null, |
| 6621 "reference": true | 7256 "reference": true |
| 6622 }, | 7257 }, |
| 6623 "gene": "VKORC1", | 7258 "gene": "VKORC1", |
| 6624 "phenotype": null, | 7259 "phenotypes": [], |
| 6625 "variant": null, | 7260 "variant": null, |
| 6626 "lookupKey": null, | 7261 "lookupKey": [], |
| 6627 "label": "rs9923231 reference (C)/rs9923231 reference (C)" | 7262 "label": "rs9923231 reference (C)/rs9923231 reference (C)" |
| 6628 } | 7263 } |
| 6629 ], | 7264 ], |
| 6630 "variants": [ | 7265 "variants": [ |
| 6631 { | 7266 { |
| 6637 "alleles": [ | 7272 "alleles": [ |
| 6638 "rs9923231 variant (T)" | 7273 "rs9923231 variant (T)" |
| 6639 ], | 7274 ], |
| 6640 "phased": true, | 7275 "phased": true, |
| 6641 "wildtypeAllele": "C", | 7276 "wildtypeAllele": "C", |
| 6642 "mismatch": false | 7277 "mismatch": false, |
| 7278 "warnings": [] | |
| 6643 } | 7279 } |
| 6644 ], | 7280 ], |
| 6645 "variantsOfInterest": [], | 7281 "variantsOfInterest": [], |
| 6646 "highlightedVariants": [] | 7282 "highlightedVariants": [] |
| 6647 } | 7283 } |