Unnamed: 0.1
int64 0
1.63k
| Unnamed: 0
int64 0
1.63k
| #AlleleID
int64 27.4k
3.4M
| Name
stringlengths 25
43
| GeneSymbol
stringclasses 1
value | Chromosome
int64 17
17
| Start
int64 7.67M
7.69M
| Stop
int64 7.67M
7.69M
| ClinicalSignificance
stringclasses 8
values | ReferenceAlleleVCF
stringclasses 4
values | AlternateAlleleVCF
stringclasses 4
values | IsPathogenic
bool 2
classes | Strand
stringclasses 1
value | NewIndex
int64 99
19.6k
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
743 | 743 | 479,383 | NM_000546.6(TP53):c.93T>G (p.Val31=) | TP53 | 17 | 7,676,385 | 7,676,385 | Likely benign | A | C | false | reverse | 11,105 |
1,421 | 1,421 | 1,821,503 | NM_000546.6(TP53):c.94C>G (p.Leu32Val) | TP53 | 17 | 7,676,384 | 7,676,384 | Likely benign | G | C | false | reverse | 11,106 |
764 | 764 | 480,115 | NM_000546.6(TP53):c.94C>T (p.Leu32=) | TP53 | 17 | 7,676,384 | 7,676,384 | Likely benign | G | A | false | reverse | 11,106 |
1,112 | 1,112 | 852,921 | NM_000546.6(TP53):c.96+1G>A | TP53 | 17 | 7,676,381 | 7,676,381 | Likely pathogenic | C | T | true | reverse | 11,109 |
713 | 713 | 479,292 | NM_000546.6(TP53):c.96+1G>T | TP53 | 17 | 7,676,381 | 7,676,381 | Pathogenic/Likely pathogenic | C | A | true | reverse | 11,109 |
638 | 638 | 420,679 | NM_000546.6(TP53):c.96+1G>C | TP53 | 17 | 7,676,381 | 7,676,381 | Pathogenic/Likely pathogenic | C | G | true | reverse | 11,109 |
1,544 | 1,544 | 2,758,374 | NM_000546.6(TP53):c.96+2T>G | TP53 | 17 | 7,676,380 | 7,676,380 | Likely pathogenic | A | C | true | reverse | 11,110 |
1,177 | 1,177 | 941,202 | NM_000546.6(TP53):c.96+2T>A | TP53 | 17 | 7,676,380 | 7,676,380 | Likely pathogenic | A | T | true | reverse | 11,110 |
1,045 | 1,045 | 776,737 | NM_000546.6(TP53):c.96+8C>G | TP53 | 17 | 7,676,374 | 7,676,374 | Likely benign | G | C | false | reverse | 11,116 |
1,250 | 1,250 | 1,147,713 | NM_000546.6(TP53):c.96+9A>G | TP53 | 17 | 7,676,373 | 7,676,373 | Likely benign | T | C | false | reverse | 11,117 |
1,221 | 1,221 | 1,105,428 | NM_000546.6(TP53):c.96+10A>G | TP53 | 17 | 7,676,372 | 7,676,372 | Likely benign | T | C | false | reverse | 11,118 |
1,572 | 1,572 | 2,931,371 | NM_000546.6(TP53):c.96+11G>A | TP53 | 17 | 7,676,371 | 7,676,371 | Likely benign | C | T | false | reverse | 11,119 |
1,609 | 1,609 | 3,168,245 | NM_000546.6(TP53):c.96+12G>A | TP53 | 17 | 7,676,370 | 7,676,370 | Likely benign | C | T | false | reverse | 11,120 |
1,585 | 1,585 | 2,982,241 | NM_000546.6(TP53):c.96+13G>C | TP53 | 17 | 7,676,369 | 7,676,369 | Likely benign | C | G | false | reverse | 11,121 |
845 | 845 | 485,681 | NM_000546.6(TP53):c.96+14T>C | TP53 | 17 | 7,676,368 | 7,676,368 | Likely benign | A | G | false | reverse | 11,122 |
1,481 | 1,481 | 2,056,496 | NM_000546.6(TP53):c.96+17G>A | TP53 | 17 | 7,676,365 | 7,676,365 | Likely benign | C | T | false | reverse | 11,125 |
1,495 | 1,495 | 2,088,710 | NM_000546.6(TP53):c.96+17G>T | TP53 | 17 | 7,676,365 | 7,676,365 | Likely benign | C | A | false | reverse | 11,125 |
1,364 | 1,364 | 1,670,813 | NM_000546.6(TP53):c.96+41A>G | TP53 | 17 | 7,676,341 | 7,676,341 | Likely benign | T | C | false | reverse | 11,149 |
1,537 | 1,537 | 2,741,149 | NM_000546.6(TP53):c.97-44G>A | TP53 | 17 | 7,676,316 | 7,676,316 | Likely benign | C | T | false | reverse | 11,174 |
373 | 373 | 256,464 | NM_000546.6(TP53):c.97-29C>A | TP53 | 17 | 7,676,301 | 7,676,301 | Benign | G | T | false | reverse | 11,189 |
390 | 390 | 358,966 | NM_000546.6(TP53):c.97-28T>A | TP53 | 17 | 7,676,300 | 7,676,300 | Likely benign | A | T | false | reverse | 11,190 |
1,328 | 1,328 | 1,559,599 | NM_000546.6(TP53):c.97-19T>A | TP53 | 17 | 7,676,291 | 7,676,291 | Likely benign | A | T | false | reverse | 11,199 |
534 | 534 | 376,629 | NM_000546.6(TP53):c.97-17T>C | TP53 | 17 | 7,676,289 | 7,676,289 | Likely benign | A | G | false | reverse | 11,201 |
889 | 889 | 539,382 | NM_000546.6(TP53):c.97-15T>C | TP53 | 17 | 7,676,287 | 7,676,287 | Likely benign | A | G | false | reverse | 11,203 |
1,590 | 1,590 | 2,989,825 | NM_000546.6(TP53):c.97-15T>G | TP53 | 17 | 7,676,287 | 7,676,287 | Likely benign | A | C | false | reverse | 11,203 |
1,017 | 1,017 | 653,531 | NM_000546.6(TP53):c.97-11C>G | TP53 | 17 | 7,676,283 | 7,676,283 | Pathogenic | G | C | true | reverse | 11,207 |
533 | 533 | 376,616 | NM_000546.6(TP53):c.97-11C>T | TP53 | 17 | 7,676,283 | 7,676,283 | Likely benign | G | A | false | reverse | 11,207 |
1,030 | 1,030 | 760,598 | NM_000546.6(TP53):c.97-10C>T | TP53 | 17 | 7,676,282 | 7,676,282 | Likely benign | G | A | false | reverse | 11,208 |
835 | 835 | 485,524 | NM_000546.6(TP53):c.97-8A>T | TP53 | 17 | 7,676,280 | 7,676,280 | Likely benign | T | A | false | reverse | 11,210 |
284 | 284 | 222,744 | NM_000546.6(TP53):c.97-6C>T | TP53 | 17 | 7,676,278 | 7,676,278 | Benign/Likely benign | G | A | false | reverse | 11,212 |
1,044 | 1,044 | 776,735 | NM_000546.6(TP53):c.97-4A>G | TP53 | 17 | 7,676,276 | 7,676,276 | Likely benign | T | C | false | reverse | 11,214 |
369 | 369 | 245,080 | NM_000546.6(TP53):c.97-2A>G | TP53 | 17 | 7,676,274 | 7,676,274 | Pathogenic | T | C | true | reverse | 11,216 |
1,622 | 1,622 | 3,307,477 | NM_000546.6(TP53):c.97-2A>C | TP53 | 17 | 7,676,274 | 7,676,274 | Likely pathogenic | T | G | true | reverse | 11,216 |
1,012 | 1,012 | 652,855 | NM_000546.6(TP53):c.97-1G>A | TP53 | 17 | 7,676,273 | 7,676,273 | Likely pathogenic | C | T | true | reverse | 11,217 |
1,015 | 1,015 | 653,042 | NM_000546.6(TP53):c.97-1G>T | TP53 | 17 | 7,676,273 | 7,676,273 | Pathogenic/Likely pathogenic | C | A | true | reverse | 11,217 |
1,096 | 1,096 | 814,520 | NM_000546.6(TP53):c.102C>T (p.Pro34=) | TP53 | 17 | 7,676,267 | 7,676,267 | Likely benign | G | A | false | reverse | 11,223 |
243 | 243 | 185,415 | NM_000546.6(TP53):c.102C>G (p.Pro34=) | TP53 | 17 | 7,676,267 | 7,676,267 | Benign/Likely benign | G | C | false | reverse | 11,223 |
1,616 | 1,616 | 3,229,869 | NM_000546.6(TP53):c.103T>C (p.Leu35=) | TP53 | 17 | 7,676,266 | 7,676,266 | Likely benign | A | G | false | reverse | 11,224 |
129 | 129 | 152,276 | NM_000546.6(TP53):c.105G>C (p.Leu35Phe) | TP53 | 17 | 7,676,264 | 7,676,264 | Likely benign | C | G | false | reverse | 11,226 |
21 | 21 | 27,410 | NM_000546.6(TP53):c.105G>T (p.Leu35Phe) | TP53 | 17 | 7,676,264 | 7,676,264 | Pathogenic | C | A | true | reverse | 11,226 |
103 | 103 | 151,311 | NM_000546.6(TP53):c.107C>A (p.Pro36Gln) | TP53 | 17 | 7,676,262 | 7,676,262 | Likely benign | G | T | false | reverse | 11,228 |
1,441 | 1,441 | 1,841,215 | NM_000546.6(TP53):c.108G>T (p.Pro36=) | TP53 | 17 | 7,676,261 | 7,676,261 | Likely benign | C | A | false | reverse | 11,229 |
65 | 65 | 136,456 | NM_000546.6(TP53):c.108G>A (p.Pro36=) | TP53 | 17 | 7,676,261 | 7,676,261 | Benign | C | T | false | reverse | 11,229 |
689 | 689 | 469,175 | NM_000546.6(TP53):c.111C>T (p.Ser37=) | TP53 | 17 | 7,676,258 | 7,676,258 | Likely benign | G | A | false | reverse | 11,232 |
834 | 834 | 485,523 | NM_000546.6(TP53):c.111C>G (p.Ser37=) | TP53 | 17 | 7,676,258 | 7,676,258 | Likely benign | G | C | false | reverse | 11,232 |
1,619 | 1,619 | 3,307,369 | NM_000546.6(TP53):c.112C>T (p.Gln38Ter) | TP53 | 17 | 7,676,257 | 7,676,257 | Pathogenic | G | A | true | reverse | 11,233 |
1,054 | 1,054 | 785,764 | NM_000546.6(TP53):c.117A>G (p.Ala39=) | TP53 | 17 | 7,676,252 | 7,676,252 | Likely benign | T | C | false | reverse | 11,238 |
242 | 242 | 185,414 | NM_000546.6(TP53):c.123T>C (p.Asp41=) | TP53 | 17 | 7,676,246 | 7,676,246 | Benign/Likely benign | A | G | false | reverse | 11,244 |
1,025 | 1,025 | 727,460 | NM_000546.6(TP53):c.126T>C (p.Asp42=) | TP53 | 17 | 7,676,243 | 7,676,243 | Likely benign | A | G | false | reverse | 11,247 |
1,410 | 1,410 | 1,818,338 | NM_000546.6(TP53):c.127T>C (p.Leu43=) | TP53 | 17 | 7,676,242 | 7,676,242 | Likely benign | A | G | false | reverse | 11,248 |
649 | 649 | 445,904 | NM_000546.6(TP53):c.128T>A (p.Leu43Ter) | TP53 | 17 | 7,676,241 | 7,676,241 | Likely pathogenic | A | T | true | reverse | 11,249 |
1,249 | 1,249 | 1,147,712 | NM_000546.6(TP53):c.129G>A (p.Leu43=) | TP53 | 17 | 7,676,240 | 7,676,240 | Likely benign | C | T | false | reverse | 11,250 |
582 | 582 | 402,603 | NM_000546.6(TP53):c.135G>A (p.Leu45=) | TP53 | 17 | 7,676,234 | 7,676,234 | Likely benign | C | T | false | reverse | 11,256 |
1,499 | 1,499 | 2,102,401 | NM_000546.6(TP53):c.138C>T (p.Ser46=) | TP53 | 17 | 7,676,231 | 7,676,231 | Likely benign | G | A | false | reverse | 11,259 |
33 | 33 | 52,757 | NM_000546.6(TP53):c.139C>T (p.Pro47Ser) | TP53 | 17 | 7,676,230 | 7,676,230 | Benign | G | A | false | reverse | 11,260 |
1,211 | 1,211 | 1,083,633 | NM_000546.6(TP53):c.141G>T (p.Pro47=) | TP53 | 17 | 7,676,228 | 7,676,228 | Likely benign | C | A | false | reverse | 11,262 |
241 | 241 | 185,413 | NM_000546.6(TP53):c.141G>A (p.Pro47=) | TP53 | 17 | 7,676,228 | 7,676,228 | Benign/Likely benign | C | T | false | reverse | 11,262 |
345 | 345 | 236,513 | NM_000546.6(TP53):c.144C>T (p.Asp48=) | TP53 | 17 | 7,676,225 | 7,676,225 | Likely benign | G | A | false | reverse | 11,265 |
88 | 88 | 150,770 | NM_000546.6(TP53):c.144C>A (p.Asp48Glu) | TP53 | 17 | 7,676,225 | 7,676,225 | Likely benign | G | T | false | reverse | 11,265 |
240 | 240 | 185,412 | NM_000546.6(TP53):c.145G>A (p.Asp49Asn) | TP53 | 17 | 7,676,224 | 7,676,224 | Likely benign | C | T | false | reverse | 11,266 |
78 | 78 | 139,660 | NM_000546.6(TP53):c.145G>C (p.Asp49His) | TP53 | 17 | 7,676,224 | 7,676,224 | Likely benign | C | G | false | reverse | 11,266 |
239 | 239 | 185,411 | NM_000546.6(TP53):c.147T>C (p.Asp49=) | TP53 | 17 | 7,676,222 | 7,676,222 | Benign/Likely benign | A | G | false | reverse | 11,268 |
273 | 273 | 213,405 | NM_000546.6(TP53):c.149T>C (p.Ile50Thr) | TP53 | 17 | 7,676,220 | 7,676,220 | Likely benign | A | G | false | reverse | 11,270 |
897 | 897 | 571,660 | NM_000546.6(TP53):c.151G>T (p.Glu51Ter) | TP53 | 17 | 7,676,218 | 7,676,218 | Pathogenic | C | A | true | reverse | 11,272 |
1,304 | 1,304 | 1,464,516 | NM_000546.6(TP53):c.154C>T (p.Gln52Ter) | TP53 | 17 | 7,676,215 | 7,676,215 | Pathogenic | G | A | true | reverse | 11,275 |
558 | 558 | 378,809 | NM_000546.6(TP53):c.156A>G (p.Gln52=) | TP53 | 17 | 7,676,213 | 7,676,213 | Likely benign | T | C | false | reverse | 11,277 |
343 | 343 | 236,511 | NM_000546.6(TP53):c.158G>A (p.Trp53Ter) | TP53 | 17 | 7,676,211 | 7,676,211 | Pathogenic | C | T | true | reverse | 11,279 |
618 | 618 | 410,283 | NM_000546.6(TP53):c.159G>A (p.Trp53Ter) | TP53 | 17 | 7,676,210 | 7,676,210 | Pathogenic | C | T | true | reverse | 11,280 |
1,234 | 1,234 | 1,126,813 | NM_000546.6(TP53):c.165T>G (p.Thr55=) | TP53 | 17 | 7,676,204 | 7,676,204 | Likely benign | A | C | false | reverse | 11,286 |
1,285 | 1,285 | 1,320,111 | NM_000546.6(TP53):c.166G>T (p.Glu56Ter) | TP53 | 17 | 7,676,203 | 7,676,203 | Likely pathogenic | C | A | true | reverse | 11,287 |
272 | 272 | 213,404 | NM_000546.6(TP53):c.168A>G (p.Glu56=) | TP53 | 17 | 7,676,201 | 7,676,201 | Likely benign | T | C | false | reverse | 11,289 |
1,437 | 1,437 | 1,834,492 | NM_000546.6(TP53):c.170A>T (p.Asp57Val) | TP53 | 17 | 7,676,199 | 7,676,199 | Likely benign | T | A | false | reverse | 11,291 |
740 | 740 | 479,372 | NM_000546.6(TP53):c.171C>T (p.Asp57=) | TP53 | 17 | 7,676,198 | 7,676,198 | Likely benign | G | A | false | reverse | 11,292 |
1,434 | 1,434 | 1,831,528 | NM_000546.6(TP53):c.172C>G (p.Pro58Ala) | TP53 | 17 | 7,676,197 | 7,676,197 | Likely benign | G | C | false | reverse | 11,293 |
604 | 604 | 403,164 | NM_000546.6(TP53):c.174A>G (p.Pro58=) | TP53 | 17 | 7,676,195 | 7,676,195 | Likely benign | T | C | false | reverse | 11,295 |
1,094 | 1,094 | 814,517 | NM_000546.6(TP53):c.176G>A (p.Gly59Asp) | TP53 | 17 | 7,676,193 | 7,676,193 | Likely benign | C | T | false | reverse | 11,297 |
1,438 | 1,438 | 1,838,620 | NM_000546.6(TP53):c.177T>A (p.Gly59=) | TP53 | 17 | 7,676,192 | 7,676,192 | Likely benign | A | T | false | reverse | 11,298 |
238 | 238 | 185,409 | NM_000546.6(TP53):c.180A>C (p.Pro60=) | TP53 | 17 | 7,676,189 | 7,676,189 | Benign/Likely benign | T | G | false | reverse | 11,301 |
1,435 | 1,435 | 1,831,834 | NM_000546.6(TP53):c.180A>G (p.Pro60=) | TP53 | 17 | 7,676,189 | 7,676,189 | Likely benign | T | C | false | reverse | 11,301 |
1,286 | 1,286 | 1,320,112 | NM_000546.6(TP53):c.183T>C (p.Asp61=) | TP53 | 17 | 7,676,186 | 7,676,186 | Likely benign | A | G | false | reverse | 11,304 |
908 | 908 | 608,821 | NM_000546.6(TP53):c.184G>T (p.Glu62Ter) | TP53 | 17 | 7,676,185 | 7,676,185 | Pathogenic | C | A | true | reverse | 11,305 |
342 | 342 | 236,510 | NM_000546.6(TP53):c.187G>A (p.Ala63Thr) | TP53 | 17 | 7,676,182 | 7,676,182 | Likely benign | C | T | false | reverse | 11,308 |
169 | 169 | 181,027 | NM_000546.6(TP53):c.188C>T (p.Ala63Val) | TP53 | 17 | 7,676,181 | 7,676,181 | Likely benign | G | A | false | reverse | 11,309 |
341 | 341 | 236,509 | NM_000546.6(TP53):c.188C>G (p.Ala63Gly) | TP53 | 17 | 7,676,181 | 7,676,181 | Likely benign | G | C | false | reverse | 11,309 |
1,210 | 1,210 | 1,083,632 | NM_000546.6(TP53):c.189T>C (p.Ala63=) | TP53 | 17 | 7,676,180 | 7,676,180 | Likely benign | A | G | false | reverse | 11,310 |
663 | 663 | 467,555 | NM_000546.6(TP53):c.192C>G (p.Pro64=) | TP53 | 17 | 7,676,177 | 7,676,177 | Likely benign | G | C | false | reverse | 11,313 |
1,615 | 1,615 | 3,229,868 | NM_000546.6(TP53):c.192C>T (p.Pro64=) | TP53 | 17 | 7,676,177 | 7,676,177 | Likely benign | G | A | false | reverse | 11,313 |
977 | 977 | 622,651 | NM_000546.6(TP53):c.193A>T (p.Arg65Ter) | TP53 | 17 | 7,676,176 | 7,676,176 | Pathogenic | T | A | true | reverse | 11,314 |
763 | 763 | 480,112 | NM_000546.6(TP53):c.193A>C (p.Arg65=) | TP53 | 17 | 7,676,176 | 7,676,176 | Likely benign | T | G | false | reverse | 11,314 |
1,053 | 1,053 | 785,763 | NM_000546.6(TP53):c.195A>G (p.Arg65=) | TP53 | 17 | 7,676,174 | 7,676,174 | Likely benign | T | C | false | reverse | 11,316 |
1,440 | 1,440 | 1,839,674 | NM_000546.6(TP53):c.196A>G (p.Met66Val) | TP53 | 17 | 7,676,173 | 7,676,173 | Likely benign | T | C | false | reverse | 11,317 |
237 | 237 | 185,408 | NM_000546.6(TP53):c.201A>G (p.Pro67=) | TP53 | 17 | 7,676,168 | 7,676,168 | Likely benign | T | C | false | reverse | 11,322 |
286 | 286 | 226,368 | NM_000546.6(TP53):c.202G>T (p.Glu68Ter) | TP53 | 17 | 7,676,167 | 7,676,167 | Pathogenic | C | A | true | reverse | 11,323 |
236 | 236 | 185,407 | NM_000546.6(TP53):c.204G>A (p.Glu68=) | TP53 | 17 | 7,676,165 | 7,676,165 | Likely benign | C | T | false | reverse | 11,325 |
283 | 283 | 222,743 | NM_000546.6(TP53):c.207T>C (p.Ala69=) | TP53 | 17 | 7,676,162 | 7,676,162 | Likely benign | A | G | false | reverse | 11,328 |
235 | 235 | 185,406 | NM_000546.6(TP53):c.210T>C (p.Ala70=) | TP53 | 17 | 7,676,159 | 7,676,159 | Likely benign | A | G | false | reverse | 11,331 |
603 | 603 | 403,162 | NM_000546.6(TP53):c.210T>A (p.Ala70=) | TP53 | 17 | 7,676,159 | 7,676,159 | Likely benign | A | T | false | reverse | 11,331 |
858 | 858 | 506,757 | NM_000546.6(TP53):c.213C>T (p.Pro71=) | TP53 | 17 | 7,676,156 | 7,676,156 | Likely benign | G | A | false | reverse | 11,334 |
4 | 4 | 27,390 | NM_000546.6(TP53):c.215C>G (p.Pro72Arg) | TP53 | 17 | 7,676,154 | 7,676,154 | Benign | G | C | false | reverse | 11,336 |
234 | 234 | 185,405 | NM_000546.6(TP53):c.215C>A (p.Pro72His) | TP53 | 17 | 7,676,154 | 7,676,154 | Likely benign | G | T | false | reverse | 11,336 |
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