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
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1,555 | 1,555 | 2,868,948 | NM_000546.6(TP53):c.993+15G>C | TP53 | 17 | 7,673,520 | 7,673,520 | Likely benign | C | G | false | reverse | 13,970 |
1,591 | 1,591 | 2,991,219 | NM_000546.6(TP53):c.993+15G>A | TP53 | 17 | 7,673,520 | 7,673,520 | Likely benign | C | T | false | reverse | 13,970 |
1,464 | 1,464 | 1,895,175 | NM_000546.6(TP53):c.993+17C>T | TP53 | 17 | 7,673,518 | 7,673,518 | Likely benign | G | A | false | reverse | 13,972 |
1,505 | 1,505 | 2,156,215 | NM_000546.6(TP53):c.993+19T>A | TP53 | 17 | 7,673,516 | 7,673,516 | Likely benign | A | T | false | reverse | 13,974 |
1,508 | 1,508 | 2,170,123 | NM_000546.6(TP53):c.993+20C>T | TP53 | 17 | 7,673,515 | 7,673,515 | Likely benign | G | A | false | reverse | 13,975 |
285 | 285 | 225,770 | NM_000546.6(TP53):c.993+141G>A | TP53 | 17 | 7,673,394 | 7,673,394 | Likely benign | C | T | false | reverse | 14,096 |
935 | 935 | 619,760 | NM_000546.6(TP53):c.993+176C>T | TP53 | 17 | 7,673,359 | 7,673,359 | Likely benign | G | A | false | reverse | 14,131 |
922 | 922 | 619,636 | NM_000546.6(TP53):c.993+177C>T | TP53 | 17 | 7,673,358 | 7,673,358 | Likely benign | G | A | false | reverse | 14,132 |
1,146 | 1,146 | 916,044 | NM_000546.6(TP53):c.993+184T>C | TP53 | 17 | 7,673,351 | 7,673,351 | Likely benign | A | G | false | reverse | 14,139 |
1,152 | 1,152 | 916,521 | NM_000546.6(TP53):c.993+185A>G | TP53 | 17 | 7,673,350 | 7,673,350 | Likely benign | T | C | false | reverse | 14,140 |
808 | 808 | 485,340 | NM_000546.6(TP53):c.993+189T>A | TP53 | 17 | 7,673,346 | 7,673,346 | Likely benign | A | T | false | reverse | 14,144 |
1,160 | 1,160 | 916,575 | NM_000546.6(TP53):c.993+189T>C | TP53 | 17 | 7,673,346 | 7,673,346 | Likely benign | A | G | false | reverse | 14,144 |
1,159 | 1,159 | 916,573 | NM_000546.6(TP53):c.993+195G>A | TP53 | 17 | 7,673,340 | 7,673,340 | Likely benign | C | T | false | reverse | 14,150 |
806 | 806 | 485,335 | NM_000546.6(TP53):c.993+198C>T | TP53 | 17 | 7,673,337 | 7,673,337 | Likely benign | G | A | false | reverse | 14,153 |
771 | 771 | 485,105 | NM_000546.6(TP53):c.993+199C>G | TP53 | 17 | 7,673,336 | 7,673,336 | Likely benign | G | C | false | reverse | 14,154 |
1,158 | 1,158 | 916,570 | NM_000546.6(TP53):c.993+203C>T | TP53 | 17 | 7,673,332 | 7,673,332 | Likely benign | G | A | false | reverse | 14,158 |
805 | 805 | 485,334 | NM_000546.6(TP53):c.993+213A>G | TP53 | 17 | 7,673,322 | 7,673,322 | Likely benign | T | C | false | reverse | 14,168 |
770 | 770 | 485,100 | NM_000546.6(TP53):c.993+216A>C | TP53 | 17 | 7,673,319 | 7,673,319 | Likely benign | T | G | false | reverse | 14,171 |
795 | 795 | 485,310 | NM_000546.6(TP53):c.993+223T>C | TP53 | 17 | 7,673,312 | 7,673,312 | Likely benign | A | G | false | reverse | 14,178 |
77 | 77 | 139,100 | NM_000546.6(TP53):c.993+223T>G | TP53 | 17 | 7,673,312 | 7,673,312 | Benign/Likely benign | A | C | false | reverse | 14,178 |
387 | 387 | 358,962 | NM_000546.6(TP53):c.993+227A>C | TP53 | 17 | 7,673,308 | 7,673,308 | Likely benign | T | G | false | reverse | 14,182 |
769 | 769 | 485,098 | NM_000546.6(TP53):c.993+228A>G | TP53 | 17 | 7,673,307 | 7,673,307 | Likely benign | T | C | false | reverse | 14,183 |
932 | 932 | 619,752 | NM_000546.6(TP53):c.993+232G>C | TP53 | 17 | 7,673,303 | 7,673,303 | Likely benign | C | G | false | reverse | 14,187 |
386 | 386 | 358,961 | NM_000546.6(TP53):c.993+234G>A | TP53 | 17 | 7,673,301 | 7,673,301 | Likely benign | C | T | false | reverse | 14,189 |
1,151 | 1,151 | 916,520 | NM_000546.6(TP53):c.993+240A>T | TP53 | 17 | 7,673,295 | 7,673,295 | Likely benign | T | A | false | reverse | 14,195 |
385 | 385 | 358,960 | NM_000546.6(TP53):c.993+244G>A | TP53 | 17 | 7,673,291 | 7,673,291 | Likely benign | C | T | false | reverse | 14,199 |
830 | 830 | 485,512 | NM_000546.6(TP53):c.993+244G>C | TP53 | 17 | 7,673,291 | 7,673,291 | Likely benign | C | G | false | reverse | 14,199 |
829 | 829 | 485,510 | NM_000546.6(TP53):c.993+245G>A | TP53 | 17 | 7,673,290 | 7,673,290 | Likely benign | C | T | false | reverse | 14,200 |
794 | 794 | 485,308 | NM_000546.6(TP53):c.993+248C>T | TP53 | 17 | 7,673,287 | 7,673,287 | Likely benign | G | A | false | reverse | 14,203 |
1,167 | 1,167 | 916,749 | NM_000546.6(TP53):c.993+267A>G | TP53 | 17 | 7,673,268 | 7,673,268 | Likely benign | T | C | false | reverse | 14,222 |
1,150 | 1,150 | 916,519 | NM_000546.6(TP53):c.993+277T>A | TP53 | 17 | 7,673,258 | 7,673,258 | Likely benign | A | T | false | reverse | 14,232 |
768 | 768 | 485,097 | NM_000546.6(TP53):c.993+285G>A | TP53 | 17 | 7,673,250 | 7,673,250 | Likely benign | C | T | false | reverse | 14,240 |
1,145 | 1,145 | 916,042 | NM_000546.6(TP53):c.993+286A>G | TP53 | 17 | 7,673,249 | 7,673,249 | Likely benign | T | C | false | reverse | 14,241 |
767 | 767 | 485,095 | NM_000546.6(TP53):c.993+287T>C | TP53 | 17 | 7,673,248 | 7,673,248 | Likely benign | A | G | false | reverse | 14,242 |
931 | 931 | 619,747 | NM_000546.6(TP53):c.993+289G>A | TP53 | 17 | 7,673,246 | 7,673,246 | Likely benign | C | T | false | reverse | 14,244 |
828 | 828 | 485,507 | NM_000546.6(TP53):c.993+290T>C | TP53 | 17 | 7,673,245 | 7,673,245 | Likely benign | A | G | false | reverse | 14,245 |
1,157 | 1,157 | 916,569 | NM_000546.6(TP53):c.993+295C>T | TP53 | 17 | 7,673,240 | 7,673,240 | Likely benign | G | A | false | reverse | 14,250 |
1,149 | 1,149 | 916,517 | NM_000546.6(TP53):c.993+299C>T | TP53 | 17 | 7,673,236 | 7,673,236 | Likely benign | G | A | false | reverse | 14,254 |
827 | 827 | 485,506 | NM_000546.6(TP53):c.993+307C>G | TP53 | 17 | 7,673,228 | 7,673,228 | Likely benign | G | C | false | reverse | 14,262 |
930 | 930 | 619,746 | NM_000546.6(TP53):c.993+310G>T | TP53 | 17 | 7,673,225 | 7,673,225 | Likely benign | C | A | false | reverse | 14,265 |
803 | 803 | 485,330 | NM_000546.6(TP53):c.993+310G>A | TP53 | 17 | 7,673,225 | 7,673,225 | Likely benign | C | T | false | reverse | 14,265 |
800 | 800 | 485,325 | NM_000546.6(TP53):c.993+312C>T | TP53 | 17 | 7,673,223 | 7,673,223 | Likely benign | G | A | false | reverse | 14,267 |
792 | 792 | 485,298 | NM_000546.6(TP53):c.993+313G>A | TP53 | 17 | 7,673,222 | 7,673,222 | Likely benign | C | T | false | reverse | 14,268 |
934 | 934 | 619,758 | NM_000546.6(TP53):c.993+317G>A | TP53 | 17 | 7,673,218 | 7,673,218 | Likely benign | C | T | false | reverse | 14,272 |
929 | 929 | 619,742 | NM_000546.6(TP53):c.993+318T>C | TP53 | 17 | 7,673,217 | 7,673,217 | Likely benign | A | G | false | reverse | 14,273 |
928 | 928 | 619,739 | NM_000546.6(TP53):c.993+331A>G | TP53 | 17 | 7,673,204 | 7,673,204 | Likely benign | T | C | false | reverse | 14,286 |
1,274 | 1,274 | 1,235,631 | NM_000546.6(TP53):c.993+352C>T | TP53 | 17 | 7,673,183 | 7,673,183 | Benign | G | A | false | reverse | 14,307 |
1,268 | 1,268 | 1,226,208 | NM_000546.6(TP53):c.993+505G>A | TP53 | 17 | 7,673,030 | 7,673,030 | Benign | C | T | false | reverse | 14,460 |
1,278 | 1,278 | 1,278,348 | NM_000546.6(TP53):c.993+577A>T | TP53 | 17 | 7,672,958 | 7,672,958 | Benign | T | A | false | reverse | 14,532 |
1,578 | 1,578 | 2,950,938 | NM_000546.6(TP53):c.994-18C>A | TP53 | 17 | 7,670,733 | 7,670,733 | Likely benign | G | T | false | reverse | 16,757 |
1,486 | 1,486 | 2,070,542 | NM_000546.6(TP53):c.994-18C>T | TP53 | 17 | 7,670,733 | 7,670,733 | Likely benign | G | A | false | reverse | 16,757 |
151 | 151 | 180,991 | NM_000546.6(TP53):c.994-17C>T | TP53 | 17 | 7,670,732 | 7,670,732 | Benign/Likely benign | G | A | false | reverse | 16,758 |
1,461 | 1,461 | 1,859,935 | NM_000546.6(TP53):c.994-17C>G | TP53 | 17 | 7,670,732 | 7,670,732 | Likely benign | G | C | false | reverse | 16,758 |
1,335 | 1,335 | 1,586,275 | NM_000546.6(TP53):c.994-17C>A | TP53 | 17 | 7,670,732 | 7,670,732 | Likely benign | G | T | false | reverse | 16,758 |
1,594 | 1,594 | 3,007,933 | NM_000546.6(TP53):c.994-16T>G | TP53 | 17 | 7,670,731 | 7,670,731 | Likely benign | A | C | false | reverse | 16,759 |
1,507 | 1,507 | 2,167,794 | NM_000546.6(TP53):c.994-15C>T | TP53 | 17 | 7,670,730 | 7,670,730 | Likely benign | G | A | false | reverse | 16,760 |
527 | 527 | 376,581 | NM_000546.6(TP53):c.994-12C>T | TP53 | 17 | 7,670,727 | 7,670,727 | Likely benign | G | A | false | reverse | 16,763 |
1,215 | 1,215 | 1,105,422 | NM_000546.6(TP53):c.994-10G>C | TP53 | 17 | 7,670,725 | 7,670,725 | Likely benign | C | G | false | reverse | 16,765 |
1,227 | 1,227 | 1,126,806 | NM_000546.6(TP53):c.994-8T>G | TP53 | 17 | 7,670,723 | 7,670,723 | Likely benign | A | C | false | reverse | 16,767 |
1,356 | 1,356 | 1,630,385 | NM_000546.6(TP53):c.994-6C>G | TP53 | 17 | 7,670,721 | 7,670,721 | Likely benign | G | C | false | reverse | 16,769 |
680 | 680 | 469,113 | NM_000546.6(TP53):c.994-6C>A | TP53 | 17 | 7,670,721 | 7,670,721 | Likely benign | G | T | false | reverse | 16,769 |
1,205 | 1,205 | 1,083,626 | NM_000546.6(TP53):c.994-6C>T | TP53 | 17 | 7,670,721 | 7,670,721 | Likely benign | G | A | false | reverse | 16,769 |
679 | 679 | 469,110 | NM_000546.6(TP53):c.994-5T>C | TP53 | 17 | 7,670,720 | 7,670,720 | Likely benign | A | G | false | reverse | 16,770 |
745 | 745 | 479,966 | NM_000546.6(TP53):c.994-2A>G | TP53 | 17 | 7,670,717 | 7,670,717 | Pathogenic/Likely pathogenic | T | C | true | reverse | 16,773 |
1,257 | 1,257 | 1,166,732 | NM_000546.6(TP53):c.994-2A>C | TP53 | 17 | 7,670,717 | 7,670,717 | not provided | T | G | false | reverse | 16,773 |
1,267 | 1,267 | 1,218,334 | NM_000546.6(TP53):c.994-2A>T | TP53 | 17 | 7,670,717 | 7,670,717 | not provided | T | A | false | reverse | 16,773 |
295 | 295 | 236,446 | NM_000546.6(TP53):c.994-1G>C | TP53 | 17 | 7,670,716 | 7,670,716 | Pathogenic/Likely pathogenic | C | G | true | reverse | 16,774 |
118 | 118 | 151,875 | NM_000546.6(TP53):c.994-1G>A | TP53 | 17 | 7,670,716 | 7,670,716 | Pathogenic/Likely pathogenic | C | T | true | reverse | 16,774 |
1,270 | 1,270 | 1,229,978 | NM_000546.6(TP53):c.994-1G>T | TP53 | 17 | 7,670,716 | 7,670,716 | not provided | C | A | false | reverse | 16,774 |
1,429 | 1,429 | 1,825,732 | NM_000546.6(TP53):c.995T>A (p.Ile332Asn) | TP53 | 17 | 7,670,714 | 7,670,714 | Likely pathogenic | A | T | true | reverse | 16,776 |
1,046 | 1,046 | 785,756 | NM_000546.6(TP53):c.996C>T (p.Ile332=) | TP53 | 17 | 7,670,713 | 7,670,713 | Likely benign | G | A | false | reverse | 16,777 |
180 | 180 | 185,338 | NM_000546.6(TP53):c.997C>T (p.Arg333Cys) | TP53 | 17 | 7,670,712 | 7,670,712 | Likely benign | G | A | false | reverse | 16,778 |
121 | 121 | 151,987 | NM_000546.6(TP53):c.998G>A (p.Arg333His) | TP53 | 17 | 7,670,711 | 7,670,711 | Likely benign | C | T | false | reverse | 16,779 |
621 | 621 | 420,637 | NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) | TP53 | 17 | 7,670,709 | 7,670,709 | Likely pathogenic | C | A | true | reverse | 16,781 |
178 | 178 | 185,336 | NM_000546.6(TP53):c.1002G>A (p.Gly334=) | TP53 | 17 | 7,670,707 | 7,670,707 | Likely benign | C | T | false | reverse | 16,783 |
1,204 | 1,204 | 1,083,625 | NM_000546.6(TP53):c.1005T>G (p.Arg335=) | TP53 | 17 | 7,670,704 | 7,670,704 | Likely benign | A | C | false | reverse | 16,786 |
1,519 | 1,519 | 2,423,240 | NM_000546.6(TP53):c.1006G>C (p.Glu336Gln) | TP53 | 17 | 7,670,703 | 7,670,703 | Likely benign | C | G | false | reverse | 16,787 |
693 | 693 | 479,218 | NM_000546.6(TP53):c.1008G>A (p.Glu336=) | TP53 | 17 | 7,670,701 | 7,670,701 | Likely benign | C | T | false | reverse | 16,789 |
127 | 127 | 152,250 | NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) | TP53 | 17 | 7,670,700 | 7,670,700 | Pathogenic/Likely pathogenic | G | A | true | reverse | 16,790 |
135 | 135 | 152,542 | NM_000546.6(TP53):c.1010G>T (p.Arg337Leu) | TP53 | 17 | 7,670,699 | 7,670,699 | Likely pathogenic | C | A | true | reverse | 16,791 |
26 | 26 | 27,418 | NM_000546.6(TP53):c.1010G>A (p.Arg337His) | TP53 | 17 | 7,670,699 | 7,670,699 | Pathogenic/Likely pathogenic | C | T | true | reverse | 16,791 |
146 | 146 | 176,640 | NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) | TP53 | 17 | 7,670,699 | 7,670,699 | Likely pathogenic | C | G | true | reverse | 16,791 |
948 | 948 | 621,604 | NM_000546.6(TP53):c.1011C>G (p.Arg337=) | TP53 | 17 | 7,670,698 | 7,670,698 | Likely benign | G | C | false | reverse | 16,792 |
856 | 856 | 506,738 | NM_000546.6(TP53):c.1011C>T (p.Arg337=) | TP53 | 17 | 7,670,698 | 7,670,698 | Likely benign | G | A | false | reverse | 16,792 |
150 | 150 | 180,989 | NM_000546.6(TP53):c.1014C>T (p.Phe338=) | TP53 | 17 | 7,670,695 | 7,670,695 | Benign/Likely benign | G | A | false | reverse | 16,795 |
108 | 108 | 151,607 | NM_000546.6(TP53):c.1015G>C (p.Glu339Gln) | TP53 | 17 | 7,670,694 | 7,670,694 | Likely benign | C | G | false | reverse | 16,796 |
640 | 640 | 432,338 | NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) | TP53 | 17 | 7,670,694 | 7,670,694 | Pathogenic | C | A | true | reverse | 16,796 |
1,407 | 1,407 | 1,816,234 | NM_000546.6(TP53):c.1020G>T (p.Met340Ile) | TP53 | 17 | 7,670,689 | 7,670,689 | Likely benign | C | A | false | reverse | 16,801 |
277 | 277 | 222,734 | NM_000546.6(TP53):c.1023C>T (p.Phe341=) | TP53 | 17 | 7,670,686 | 7,670,686 | Benign/Likely benign | G | A | false | reverse | 16,804 |
1,541 | 1,541 | 2,753,438 | NM_000546.6(TP53):c.1023C>G (p.Phe341Leu) | TP53 | 17 | 7,670,686 | 7,670,686 | Likely benign | G | C | false | reverse | 16,804 |
149 | 149 | 180,988 | NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) | TP53 | 17 | 7,670,685 | 7,670,685 | Pathogenic | G | A | true | reverse | 16,805 |
294 | 294 | 236,445 | NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) | TP53 | 17 | 7,670,684 | 7,670,684 | Likely benign | C | T | false | reverse | 16,806 |
257 | 257 | 213,385 | NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) | TP53 | 17 | 7,670,684 | 7,670,684 | Pathogenic/Likely pathogenic | C | G | true | reverse | 16,806 |
1,237 | 1,237 | 1,147,700 | NM_000546.6(TP53):c.1026A>G (p.Arg342=) | TP53 | 17 | 7,670,683 | 7,670,683 | Likely benign | T | C | false | reverse | 16,807 |
1,063 | 1,063 | 814,448 | NM_000546.6(TP53):c.1030C>T (p.Leu344=) | TP53 | 17 | 7,670,679 | 7,670,679 | Likely benign | G | A | false | reverse | 16,811 |
24 | 24 | 27,414 | NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) | TP53 | 17 | 7,670,678 | 7,670,678 | Likely pathogenic | A | G | true | reverse | 16,812 |
276 | 276 | 222,733 | NM_000546.6(TP53):c.1032G>A (p.Leu344=) | TP53 | 17 | 7,670,677 | 7,670,677 | Likely benign | C | T | false | reverse | 16,813 |
651 | 651 | 467,487 | NM_000546.6(TP53):c.1032G>C (p.Leu344=) | TP53 | 17 | 7,670,677 | 7,670,677 | Likely benign | C | G | false | reverse | 16,813 |
953 | 953 | 622,574 | NM_000546.6(TP53):c.1036G>T (p.Glu346Ter) | TP53 | 17 | 7,670,673 | 7,670,673 | Pathogenic | C | A | true | reverse | 16,817 |
692 | 692 | 479,212 | NM_000546.6(TP53):c.1038G>A (p.Glu346=) | TP53 | 17 | 7,670,671 | 7,670,671 | Likely benign | C | T | false | reverse | 16,819 |
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