Dataset Viewer
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
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1,056 | 1,056 | 791,836 |
NM_000546.6(TP53):c.-43G>T
|
TP53
| 17 | 7,687,391 | 7,687,391 |
Likely benign
|
C
|
A
| false |
reverse
| 99 |
865 | 865 | 507,189 |
NM_000546.6(TP53):c.-29+9C>T
|
TP53
| 17 | 7,687,368 | 7,687,368 |
Likely benign
|
G
|
A
| false |
reverse
| 122 |
1,265 | 1,265 | 1,210,248 |
NM_000546.6(TP53):c.-28-341C>T
|
TP53
| 17 | 7,676,963 | 7,676,963 |
Likely benign
|
G
|
A
| false |
reverse
| 10,527 |
1,021 | 1,021 | 669,113 |
NM_000546.6(TP53):c.-28-177G>C
|
TP53
| 17 | 7,676,799 | 7,676,799 |
Likely benign
|
C
|
G
| false |
reverse
| 10,691 |
1,279 | 1,279 | 1,282,225 |
NM_000546.6(TP53):c.-28-112G>A
|
TP53
| 17 | 7,676,734 | 7,676,734 |
Benign
|
C
|
T
| false |
reverse
| 10,756 |
859 | 859 | 506,758 |
NM_000546.6(TP53):c.-28-14T>G
|
TP53
| 17 | 7,676,636 | 7,676,636 |
Likely benign
|
A
|
C
| false |
reverse
| 10,854 |
547 | 547 | 376,718 |
NM_000546.6(TP53):c.-20C>G
|
TP53
| 17 | 7,676,614 | 7,676,614 |
Likely benign
|
G
|
C
| false |
reverse
| 10,876 |
546 | 546 | 376,713 |
NM_000546.6(TP53):c.-16C>T
|
TP53
| 17 | 7,676,610 | 7,676,610 |
Likely benign
|
G
|
A
| false |
reverse
| 10,880 |
1,144 | 1,144 | 914,207 |
NM_000546.6(TP53):c.-11G>T
|
TP53
| 17 | 7,676,605 | 7,676,605 |
Likely benign
|
C
|
A
| false |
reverse
| 10,885 |
252 | 252 | 185,426 |
NM_000546.6(TP53):c.6G>A (p.Glu2=)
|
TP53
| 17 | 7,676,589 | 7,676,589 |
Benign/Likely benign
|
C
|
T
| false |
reverse
| 10,901 |
864 | 864 | 507,187 |
NM_000546.6(TP53):c.9G>A (p.Glu3=)
|
TP53
| 17 | 7,676,586 | 7,676,586 |
Likely benign
|
C
|
T
| false |
reverse
| 10,904 |
360 | 360 | 242,994 |
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)
|
TP53
| 17 | 7,676,584 | 7,676,584 |
Likely benign
|
G
|
A
| false |
reverse
| 10,906 |
1,516 | 1,516 | 2,423,226 |
NM_000546.6(TP53):c.11C>A (p.Pro4Gln)
|
TP53
| 17 | 7,676,584 | 7,676,584 |
Likely benign
|
G
|
T
| false |
reverse
| 10,906 |
1,251 | 1,251 | 1,147,714 |
NM_000546.6(TP53):c.12G>C (p.Pro4=)
|
TP53
| 17 | 7,676,583 | 7,676,583 |
Likely benign
|
C
|
G
| false |
reverse
| 10,907 |
1,213 | 1,213 | 1,083,635 |
NM_000546.6(TP53):c.12G>T (p.Pro4=)
|
TP53
| 17 | 7,676,583 | 7,676,583 |
Likely benign
|
C
|
A
| false |
reverse
| 10,907 |
350 | 350 | 236,522 |
NM_000546.6(TP53):c.12G>A (p.Pro4=)
|
TP53
| 17 | 7,676,583 | 7,676,583 |
Likely benign
|
C
|
T
| false |
reverse
| 10,907 |
1,236 | 1,236 | 1,126,815 |
NM_000546.6(TP53):c.15G>A (p.Gln5=)
|
TP53
| 17 | 7,676,580 | 7,676,580 |
Likely benign
|
C
|
T
| false |
reverse
| 10,910 |
597 | 597 | 403,047 |
NM_000546.6(TP53):c.18A>G (p.Ser6=)
|
TP53
| 17 | 7,676,577 | 7,676,577 |
Likely benign
|
T
|
C
| false |
reverse
| 10,913 |
171 | 171 | 181,034 |
NM_000546.6(TP53):c.18A>C (p.Ser6=)
|
TP53
| 17 | 7,676,577 | 7,676,577 |
Benign/Likely benign
|
T
|
G
| false |
reverse
| 10,913 |
741 | 741 | 479,373 |
NM_000546.6(TP53):c.21T>G (p.Asp7Glu)
|
TP53
| 17 | 7,676,574 | 7,676,574 |
Likely benign
|
A
|
C
| false |
reverse
| 10,916 |
82 | 82 | 150,496 |
NM_000546.6(TP53):c.21T>A (p.Asp7Glu)
|
TP53
| 17 | 7,676,574 | 7,676,574 |
Likely benign
|
A
|
T
| false |
reverse
| 10,916 |
348 | 348 | 236,520 |
NM_000546.6(TP53):c.23C>T (p.Pro8Leu)
|
TP53
| 17 | 7,676,572 | 7,676,572 |
Likely benign
|
G
|
A
| false |
reverse
| 10,918 |
1,444 | 1,444 | 1,841,606 |
NM_000546.6(TP53):c.23C>G (p.Pro8Arg)
|
TP53
| 17 | 7,676,572 | 7,676,572 |
Likely benign
|
G
|
C
| false |
reverse
| 10,918 |
275 | 275 | 213,407 |
NM_000546.6(TP53):c.27C>T (p.Ser9=)
|
TP53
| 17 | 7,676,568 | 7,676,568 |
Likely benign
|
G
|
A
| false |
reverse
| 10,922 |
48 | 48 | 133,263 |
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
TP53
| 17 | 7,676,567 | 7,676,567 |
Likely benign
|
C
|
T
| false |
reverse
| 10,923 |
347 | 347 | 236,519 |
NM_000546.6(TP53):c.28G>C (p.Val10Leu)
|
TP53
| 17 | 7,676,567 | 7,676,567 |
Likely benign
|
C
|
G
| false |
reverse
| 10,923 |
672 | 672 | 468,416 |
NM_000546.6(TP53):c.30C>G (p.Val10=)
|
TP53
| 17 | 7,676,565 | 7,676,565 |
Likely benign
|
G
|
C
| false |
reverse
| 10,925 |
251 | 251 | 185,424 |
NM_000546.6(TP53):c.30C>T (p.Val10=)
|
TP53
| 17 | 7,676,565 | 7,676,565 |
Benign/Likely benign
|
G
|
A
| false |
reverse
| 10,925 |
1,355 | 1,355 | 1,624,432 |
NM_000546.6(TP53):c.33G>A (p.Glu11=)
|
TP53
| 17 | 7,676,562 | 7,676,562 |
Likely benign
|
C
|
T
| false |
reverse
| 10,928 |
1,235 | 1,235 | 1,126,814 |
NM_000546.6(TP53):c.36C>T (p.Pro12=)
|
TP53
| 17 | 7,676,559 | 7,676,559 |
Likely benign
|
G
|
A
| false |
reverse
| 10,931 |
716 | 716 | 479,301 |
NM_000546.6(TP53):c.39T>G (p.Pro13=)
|
TP53
| 17 | 7,676,556 | 7,676,556 |
Likely benign
|
A
|
C
| false |
reverse
| 10,934 |
1,212 | 1,212 | 1,083,634 |
NM_000546.6(TP53):c.40C>T (p.Leu14=)
|
TP53
| 17 | 7,676,555 | 7,676,555 |
Likely benign
|
G
|
A
| false |
reverse
| 10,935 |
1,098 | 1,098 | 814,524 |
NM_000546.6(TP53):c.42G>A (p.Leu14=)
|
TP53
| 17 | 7,676,553 | 7,676,553 |
Likely benign
|
C
|
T
| false |
reverse
| 10,937 |
250 | 250 | 185,423 |
NM_000546.6(TP53):c.42G>C (p.Leu14=)
|
TP53
| 17 | 7,676,553 | 7,676,553 |
Likely benign
|
C
|
G
| false |
reverse
| 10,937 |
584 | 584 | 402,607 |
NM_000546.6(TP53):c.45T>C (p.Ser15=)
|
TP53
| 17 | 7,676,550 | 7,676,550 |
Likely benign
|
A
|
G
| false |
reverse
| 10,940 |
346 | 346 | 236,517 |
NM_000546.6(TP53):c.54A>G (p.Thr18=)
|
TP53
| 17 | 7,676,541 | 7,676,541 |
Likely benign
|
T
|
C
| false |
reverse
| 10,949 |
1,038 | 1,038 | 771,861 |
NM_000546.6(TP53):c.57T>C (p.Phe19=)
|
TP53
| 17 | 7,676,538 | 7,676,538 |
Likely benign
|
A
|
G
| false |
reverse
| 10,952 |
249 | 249 | 185,422 |
NM_000546.6(TP53):c.60A>G (p.Ser20=)
|
TP53
| 17 | 7,676,535 | 7,676,535 |
Likely benign
|
T
|
C
| false |
reverse
| 10,955 |
1,037 | 1,037 | 771,860 |
NM_000546.6(TP53):c.60A>T (p.Ser20=)
|
TP53
| 17 | 7,676,535 | 7,676,535 |
Likely benign
|
T
|
A
| false |
reverse
| 10,955 |
1,423 | 1,423 | 1,822,692 |
NM_000546.6(TP53):c.72A>G (p.Lys24=)
|
TP53
| 17 | 7,676,523 | 7,676,523 |
Likely benign
|
T
|
C
| false |
reverse
| 10,967 |
1,040 | 1,040 | 776,405 |
NM_000546.6(TP53):c.74+7G>T
|
TP53
| 17 | 7,676,514 | 7,676,514 |
Likely benign
|
C
|
A
| false |
reverse
| 10,976 |
664 | 664 | 467,568 |
NM_000546.6(TP53):c.74+8G>A
|
TP53
| 17 | 7,676,513 | 7,676,513 |
Likely benign
|
C
|
T
| false |
reverse
| 10,977 |
1,222 | 1,222 | 1,105,429 |
NM_000546.6(TP53):c.74+10T>G
|
TP53
| 17 | 7,676,511 | 7,676,511 |
Likely benign
|
A
|
C
| false |
reverse
| 10,979 |
1,166 | 1,166 | 916,590 |
NM_000546.6(TP53):c.74+12C>T
|
TP53
| 17 | 7,676,509 | 7,676,509 |
Likely benign
|
G
|
A
| false |
reverse
| 10,981 |
391 | 391 | 358,967 |
NM_000546.6(TP53):c.74+14T>C
|
TP53
| 17 | 7,676,507 | 7,676,507 |
Benign/Likely benign
|
A
|
G
| false |
reverse
| 10,983 |
1,501 | 1,501 | 2,125,777 |
NM_000546.6(TP53):c.74+14T>A
|
TP53
| 17 | 7,676,507 | 7,676,507 |
Likely benign
|
A
|
T
| false |
reverse
| 10,983 |
1,347 | 1,347 | 1,608,566 |
NM_000546.6(TP53):c.74+17G>A
|
TP53
| 17 | 7,676,504 | 7,676,504 |
Likely benign
|
C
|
T
| false |
reverse
| 10,986 |
1,468 | 1,468 | 1,956,738 |
NM_000546.6(TP53):c.74+20G>A
|
TP53
| 17 | 7,676,501 | 7,676,501 |
Likely benign
|
C
|
T
| false |
reverse
| 10,989 |
789 | 789 | 485,177 |
NM_000546.6(TP53):c.74+22G>A
|
TP53
| 17 | 7,676,499 | 7,676,499 |
Likely benign
|
C
|
T
| false |
reverse
| 10,991 |
1,366 | 1,366 | 1,688,817 |
NM_000546.6(TP53):c.74+23C>T
|
TP53
| 17 | 7,676,498 | 7,676,498 |
Likely benign
|
G
|
A
| false |
reverse
| 10,992 |
1,169 | 1,169 | 916,755 |
NM_000546.6(TP53):c.74+24A>C
|
TP53
| 17 | 7,676,497 | 7,676,497 |
Likely benign
|
T
|
G
| false |
reverse
| 10,993 |
823 | 823 | 485,405 |
NM_000546.6(TP53):c.74+27C>G
|
TP53
| 17 | 7,676,494 | 7,676,494 |
Likely benign
|
G
|
C
| false |
reverse
| 10,996 |
1,165 | 1,165 | 916,589 |
NM_000546.6(TP53):c.74+28C>G
|
TP53
| 17 | 7,676,493 | 7,676,493 |
Likely benign
|
G
|
C
| false |
reverse
| 10,997 |
1,164 | 1,164 | 916,587 |
NM_000546.6(TP53):c.74+30A>G
|
TP53
| 17 | 7,676,491 | 7,676,491 |
Likely benign
|
T
|
C
| false |
reverse
| 10,999 |
947 | 947 | 619,780 |
NM_000546.6(TP53):c.74+32C>G
|
TP53
| 17 | 7,676,489 | 7,676,489 |
Likely benign
|
G
|
C
| false |
reverse
| 11,001 |
926 | 926 | 619,652 |
NM_000546.6(TP53):c.74+34C>A
|
TP53
| 17 | 7,676,487 | 7,676,487 |
Likely benign
|
G
|
T
| false |
reverse
| 11,003 |
822 | 822 | 485,396 |
NM_000546.6(TP53):c.74+35C>T
|
TP53
| 17 | 7,676,486 | 7,676,486 |
Likely benign
|
G
|
A
| false |
reverse
| 11,004 |
813 | 813 | 485,354 |
NM_000546.6(TP53):c.74+37C>T
|
TP53
| 17 | 7,676,484 | 7,676,484 |
Likely benign
|
G
|
A
| false |
reverse
| 11,006 |
80 | 80 | 141,394 |
NM_000546.6(TP53):c.74+38C>G
|
TP53
| 17 | 7,676,483 | 7,676,483 |
Benign
|
G
|
C
| false |
reverse
| 11,007 |
840 | 840 | 485,534 |
NM_000546.6(TP53):c.74+38C>A
|
TP53
| 17 | 7,676,483 | 7,676,483 |
Benign
|
G
|
T
| false |
reverse
| 11,007 |
839 | 839 | 485,531 |
NM_000546.6(TP53):c.74+41C>T
|
TP53
| 17 | 7,676,480 | 7,676,480 |
Likely benign
|
G
|
A
| false |
reverse
| 11,010 |
810 | 810 | 485,344 |
NM_000546.6(TP53):c.74+44A>G
|
TP53
| 17 | 7,676,477 | 7,676,477 |
Likely benign
|
T
|
C
| false |
reverse
| 11,013 |
1,148 | 1,148 | 916,052 |
NM_000546.6(TP53):c.74+46C>A
|
TP53
| 17 | 7,676,475 | 7,676,475 |
Likely benign
|
G
|
T
| false |
reverse
| 11,015 |
1,367 | 1,367 | 1,690,021 |
NM_000546.6(TP53):c.74+46C>T
|
TP53
| 17 | 7,676,475 | 7,676,475 |
Likely benign
|
G
|
A
| false |
reverse
| 11,015 |
1,147 | 1,147 | 916,050 |
NM_000546.6(TP53):c.74+48C>T
|
TP53
| 17 | 7,676,473 | 7,676,473 |
Likely benign
|
G
|
A
| false |
reverse
| 11,017 |
937 | 937 | 619,762 |
NM_000546.6(TP53):c.74+54C>T
|
TP53
| 17 | 7,676,467 | 7,676,467 |
Likely benign
|
G
|
A
| false |
reverse
| 11,023 |
788 | 788 | 485,169 |
NM_000546.6(TP53):c.74+56C>G
|
TP53
| 17 | 7,676,465 | 7,676,465 |
Likely benign
|
G
|
C
| false |
reverse
| 11,025 |
838 | 838 | 485,529 |
NM_000546.6(TP53):c.74+59G>C
|
TP53
| 17 | 7,676,462 | 7,676,462 |
Likely benign
|
C
|
G
| false |
reverse
| 11,028 |
807 | 807 | 485,339 |
NM_000546.6(TP53):c.75-56G>T
|
TP53
| 17 | 7,676,459 | 7,676,459 |
Likely benign
|
C
|
A
| false |
reverse
| 11,031 |
787 | 787 | 485,164 |
NM_000546.6(TP53):c.75-54G>A
|
TP53
| 17 | 7,676,457 | 7,676,457 |
Likely benign
|
C
|
T
| false |
reverse
| 11,033 |
821 | 821 | 485,391 |
NM_000546.6(TP53):c.75-49G>T
|
TP53
| 17 | 7,676,452 | 7,676,452 |
Likely benign
|
C
|
A
| false |
reverse
| 11,038 |
946 | 946 | 619,779 |
NM_000546.6(TP53):c.75-47G>A
|
TP53
| 17 | 7,676,450 | 7,676,450 |
Likely benign
|
C
|
T
| false |
reverse
| 11,040 |
945 | 945 | 619,777 |
NM_000546.6(TP53):c.75-43A>C
|
TP53
| 17 | 7,676,446 | 7,676,446 |
Likely benign
|
T
|
G
| false |
reverse
| 11,044 |
820 | 820 | 485,390 |
NM_000546.6(TP53):c.75-42G>T
|
TP53
| 17 | 7,676,445 | 7,676,445 |
Likely benign
|
C
|
A
| false |
reverse
| 11,045 |
819 | 819 | 485,378 |
NM_000546.6(TP53):c.75-41C>T
|
TP53
| 17 | 7,676,444 | 7,676,444 |
Likely benign
|
G
|
A
| false |
reverse
| 11,046 |
818 | 818 | 485,377 |
NM_000546.6(TP53):c.75-40G>A
|
TP53
| 17 | 7,676,443 | 7,676,443 |
Likely benign
|
C
|
T
| false |
reverse
| 11,047 |
944 | 944 | 619,772 |
NM_000546.6(TP53):c.75-32C>T
|
TP53
| 17 | 7,676,435 | 7,676,435 |
Likely benign
|
G
|
A
| false |
reverse
| 11,055 |
925 | 925 | 619,649 |
NM_000546.6(TP53):c.75-31A>G
|
TP53
| 17 | 7,676,434 | 7,676,434 |
Likely benign
|
T
|
C
| false |
reverse
| 11,056 |
943 | 943 | 619,770 |
NM_000546.6(TP53):c.75-30T>C
|
TP53
| 17 | 7,676,433 | 7,676,433 |
Likely benign
|
A
|
G
| false |
reverse
| 11,057 |
837 | 837 | 485,527 |
NM_000546.6(TP53):c.75-27G>A
|
TP53
| 17 | 7,676,430 | 7,676,430 |
Likely benign
|
C
|
T
| false |
reverse
| 11,060 |
1,587 | 1,587 | 2,983,993 |
NM_000546.6(TP53):c.75-20T>C
|
TP53
| 17 | 7,676,423 | 7,676,423 |
Likely benign
|
A
|
G
| false |
reverse
| 11,067 |
1,314 | 1,314 | 1,523,020 |
NM_000546.6(TP53):c.75-19T>A
|
TP53
| 17 | 7,676,422 | 7,676,422 |
Likely benign
|
A
|
T
| false |
reverse
| 11,068 |
804 | 804 | 485,333 |
NM_000546.6(TP53):c.75-18T>G
|
TP53
| 17 | 7,676,421 | 7,676,421 |
Benign/Likely benign
|
A
|
C
| false |
reverse
| 11,069 |
836 | 836 | 485,526 |
NM_000546.6(TP53):c.75-17C>A
|
TP53
| 17 | 7,676,420 | 7,676,420 |
Likely benign
|
G
|
T
| false |
reverse
| 11,070 |
1,350 | 1,350 | 1,613,893 |
NM_000546.6(TP53):c.75-16T>G
|
TP53
| 17 | 7,676,419 | 7,676,419 |
Likely benign
|
A
|
C
| false |
reverse
| 11,071 |
1,331 | 1,331 | 1,572,917 |
NM_000546.6(TP53):c.75-15G>A
|
TP53
| 17 | 7,676,418 | 7,676,418 |
Likely benign
|
C
|
T
| false |
reverse
| 11,072 |
535 | 535 | 376,631 |
NM_000546.6(TP53):c.75-14C>T
|
TP53
| 17 | 7,676,417 | 7,676,417 |
Likely benign
|
G
|
A
| false |
reverse
| 11,073 |
786 | 786 | 485,162 |
NM_000546.6(TP53):c.75-12C>A
|
TP53
| 17 | 7,676,415 | 7,676,415 |
Likely benign
|
G
|
T
| false |
reverse
| 11,075 |
1,558 | 1,558 | 2,891,412 |
NM_000546.6(TP53):c.75-11T>C
|
TP53
| 17 | 7,676,414 | 7,676,414 |
Likely benign
|
A
|
G
| false |
reverse
| 11,076 |
1,553 | 1,553 | 2,860,805 |
NM_000546.6(TP53):c.75-10T>C
|
TP53
| 17 | 7,676,413 | 7,676,413 |
Likely benign
|
A
|
G
| false |
reverse
| 11,077 |
639 | 639 | 420,680 |
NM_000546.6(TP53):c.75-2A>G
|
TP53
| 17 | 7,676,405 | 7,676,405 |
Likely pathogenic
|
T
|
C
| true |
reverse
| 11,085 |
1,200 | 1,200 | 1,056,475 |
NM_000546.6(TP53):c.75-1G>A
|
TP53
| 17 | 7,676,404 | 7,676,404 |
Likely pathogenic
|
C
|
T
| true |
reverse
| 11,086 |
1,258 | 1,258 | 1,174,983 |
NM_000546.6(TP53):c.75-1G>T
|
TP53
| 17 | 7,676,404 | 7,676,404 |
not provided
|
C
|
A
| false |
reverse
| 11,086 |
714 | 714 | 479,297 |
NM_000546.6(TP53):c.78T>C (p.Leu26=)
|
TP53
| 17 | 7,676,400 | 7,676,400 |
Likely benign
|
A
|
G
| false |
reverse
| 11,090 |
1,408 | 1,408 | 1,816,839 |
NM_000546.6(TP53):c.81T>G (p.Pro27=)
|
TP53
| 17 | 7,676,397 | 7,676,397 |
Likely benign
|
A
|
C
| false |
reverse
| 11,093 |
855 | 855 | 506,434 |
NM_000546.6(TP53):c.81T>C (p.Pro27=)
|
TP53
| 17 | 7,676,397 | 7,676,397 |
Likely benign
|
A
|
G
| false |
reverse
| 11,093 |
1,097 | 1,097 | 814,522 |
NM_000546.6(TP53):c.85A>G (p.Asn29Asp)
|
TP53
| 17 | 7,676,393 | 7,676,393 |
Likely benign
|
T
|
C
| false |
reverse
| 11,097 |
1,405 | 1,405 | 1,814,538 |
NM_000546.6(TP53):c.87C>T (p.Asn29=)
|
TP53
| 17 | 7,676,391 | 7,676,391 |
Likely benign
|
G
|
A
| false |
reverse
| 11,099 |
274 | 274 | 213,406 |
NM_000546.6(TP53):c.90C>T (p.Asn30=)
|
TP53
| 17 | 7,676,388 | 7,676,388 |
Likely benign
|
G
|
A
| false |
reverse
| 11,102 |
1,498 | 1,498 | 2,100,231 |
NM_000546.6(TP53):c.93T>A (p.Val31=)
|
TP53
| 17 | 7,676,385 | 7,676,385 |
Likely benign
|
A
|
T
| false |
reverse
| 11,105 |
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