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
852
852
506,197
NM_000546.6(TP53):c.450A>C (p.Thr150=)
TP53
17
7,675,162
7,675,162
Likely benign
T
G
false
reverse
12,328
19
19
27,408
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
TP53
17
7,675,161
7,675,161
Pathogenic/Likely pathogenic
G
T
true
reverse
12,329
20
20
27,409
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
TP53
17
7,675,161
7,675,161
Pathogenic/Likely pathogenic
G
A
true
reverse
12,329
466
466
363,520
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
TP53
17
7,675,161
7,675,161
Pathogenic
G
C
true
reverse
12,329
465
465
363,519
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
TP53
17
7,675,160
7,675,160
Pathogenic/Likely pathogenic
G
C
true
reverse
12,330
1,580
1,580
2,972,903
NM_000546.6(TP53):c.453C>G (p.Pro151=)
TP53
17
7,675,159
7,675,159
Likely benign
G
C
false
reverse
12,331
1,243
1,243
1,147,706
NM_000546.6(TP53):c.453C>T (p.Pro151=)
TP53
17
7,675,159
7,675,159
Likely benign
G
A
false
reverse
12,331
134
134
152,480
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
TP53
17
7,675,157
7,675,157
Pathogenic
G
A
true
reverse
12,333
1,084
1,084
814,494
NM_000546.6(TP53):c.455C>G (p.Pro152Arg)
TP53
17
7,675,157
7,675,157
Pathogenic/Likely pathogenic
G
C
true
reverse
12,333
1,083
1,083
814,493
NM_000546.6(TP53):c.456G>C (p.Pro152=)
TP53
17
7,675,156
7,675,156
Likely benign
C
G
false
reverse
12,334
325
325
236,491
NM_000546.6(TP53):c.456G>A (p.Pro152=)
TP53
17
7,675,156
7,675,156
Likely benign
C
T
false
reverse
12,334
1,391
1,391
1,805,001
NM_000546.6(TP53):c.456G>T (p.Pro152=)
TP53
17
7,675,156
7,675,156
Likely benign
C
A
false
reverse
12,334
324
324
236,490
NM_000546.6(TP53):c.459C>T (p.Pro153=)
TP53
17
7,675,153
7,675,153
Benign/Likely benign
G
A
false
reverse
12,337
71
71
137,024
NM_000546.6(TP53):c.462C>T (p.Gly154=)
TP53
17
7,675,150
7,675,150
Likely benign
G
A
false
reverse
12,340
1,242
1,242
1,147,705
NM_000546.6(TP53):c.465C>T (p.Thr155=)
TP53
17
7,675,147
7,675,147
Likely benign
G
A
false
reverse
12,343
214
214
185,379
NM_000546.6(TP53):c.465C>A (p.Thr155=)
TP53
17
7,675,147
7,675,147
Likely benign
G
T
false
reverse
12,343
213
213
185,378
NM_000546.6(TP53):c.468C>T (p.Arg156=)
TP53
17
7,675,144
7,675,144
Benign/Likely benign
G
A
false
reverse
12,346
212
212
185,377
NM_000546.6(TP53):c.469G>A (p.Val157Ile)
TP53
17
7,675,143
7,675,143
Likely benign
C
T
false
reverse
12,347
523
523
375,730
NM_000546.6(TP53):c.471C>A (p.Val157=)
TP53
17
7,675,141
7,675,141
Likely benign
G
T
false
reverse
12,349
1,108
1,108
846,283
NM_000546.6(TP53):c.472C>G (p.Arg158Gly)
TP53
17
7,675,140
7,675,140
Pathogenic
G
C
true
reverse
12,350
1,199
1,199
1,056,473
NM_000546.6(TP53):c.472C>A (p.Arg158Ser)
TP53
17
7,675,140
7,675,140
Pathogenic
G
T
true
reverse
12,350
871
871
531,819
NM_000546.6(TP53):c.473G>T (p.Arg158Leu)
TP53
17
7,675,139
7,675,139
Pathogenic/Likely pathogenic
C
A
true
reverse
12,351
368
368
245,076
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)
TP53
17
7,675,139
7,675,139
Likely pathogenic
C
G
true
reverse
12,351
110
110
151,677
NM_000546.6(TP53):c.473G>A (p.Arg158His)
TP53
17
7,675,139
7,675,139
Pathogenic/Likely pathogenic
C
T
true
reverse
12,351
1,327
1,327
1,554,697
NM_000546.6(TP53):c.474C>A (p.Arg158=)
TP53
17
7,675,138
7,675,138
Likely benign
G
T
false
reverse
12,352
211
211
185,376
NM_000546.6(TP53):c.474C>T (p.Arg158=)
TP53
17
7,675,138
7,675,138
Benign/Likely benign
G
A
false
reverse
12,352
659
659
467,544
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
TP53
17
7,675,136
7,675,136
Pathogenic/Likely pathogenic
G
A
true
reverse
12,354
1,194
1,194
1,013,159
NM_000546.6(TP53):c.476C>A (p.Ala159Asp)
TP53
17
7,675,136
7,675,136
Pathogenic/Likely pathogenic
G
T
true
reverse
12,354
522
522
375,728
NM_000546.6(TP53):c.477C>T (p.Ala159=)
TP53
17
7,675,135
7,675,135
Likely benign
G
A
false
reverse
12,355
323
323
236,488
NM_000546.6(TP53):c.480G>A (p.Met160Ile)
TP53
17
7,675,132
7,675,132
Likely benign
C
T
false
reverse
12,358
143
143
171,616
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
TP53
17
7,675,131
7,675,131
Pathogenic/Likely pathogenic
C
T
true
reverse
12,359
521
521
375,726
NM_000546.6(TP53):c.483C>A (p.Ala161=)
TP53
17
7,675,129
7,675,129
Likely benign
G
T
false
reverse
12,361
1,593
1,593
3,006,889
NM_000546.6(TP53):c.483C>T (p.Ala161=)
TP53
17
7,675,129
7,675,129
Likely benign
G
A
false
reverse
12,361
52
52
133,271
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)
TP53
17
7,675,124
7,675,124
Pathogenic
T
C
true
reverse
12,366
911
911
611,260
NM_000546.6(TP53):c.489C>G (p.Tyr163Ter)
TP53
17
7,675,123
7,675,123
Pathogenic
G
C
true
reverse
12,367
1,288
1,288
1,337,452
NM_000546.6(TP53):c.489C>A (p.Tyr163Ter)
TP53
17
7,675,123
7,675,123
Pathogenic
G
T
true
reverse
12,367
1,174
1,174
938,237
NM_000546.6(TP53):c.490A>T (p.Lys164Ter)
TP53
17
7,675,122
7,675,122
Pathogenic
T
A
true
reverse
12,368
729
729
479,347
NM_000546.6(TP53):c.492G>A (p.Lys164=)
TP53
17
7,675,120
7,675,120
Likely benign
C
T
false
reverse
12,370
164
164
181,011
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)
TP53
17
7,675,119
7,675,119
Pathogenic
G
A
true
reverse
12,371
1,528
1,528
2,670,460
NM_000546.6(TP53):c.494A>T (p.Gln165Leu)
TP53
17
7,675,118
7,675,118
Pathogenic
T
A
true
reverse
12,372
967
967
622,618
NM_000546.6(TP53):c.497C>G (p.Ser166Ter)
TP53
17
7,675,115
7,675,115
Pathogenic
G
C
true
reverse
12,375
801
801
485,326
NM_000546.6(TP53):c.498A>G (p.Ser166=)
TP53
17
7,675,114
7,675,114
Likely benign
T
C
false
reverse
12,376
870
870
531,807
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
TP53
17
7,675,113
7,675,113
Pathogenic/Likely pathogenic
G
A
true
reverse
12,377
1,397
1,397
1,809,598
NM_000546.6(TP53):c.501G>A (p.Gln167=)
TP53
17
7,675,111
7,675,111
Likely benign
C
T
false
reverse
12,379
1,392
1,392
1,805,779
NM_000546.6(TP53):c.503A>T (p.His168Leu)
TP53
17
7,675,109
7,675,109
Pathogenic
T
A
true
reverse
12,381
281
281
222,741
NM_000546.6(TP53):c.504C>T (p.His168=)
TP53
17
7,675,108
7,675,108
Likely benign
G
A
false
reverse
12,382
209
209
185,374
NM_000546.6(TP53):c.509C>T (p.Thr170Met)
TP53
17
7,675,103
7,675,103
Likely benign
G
A
false
reverse
12,387
1,082
1,082
814,490
NM_000546.6(TP53):c.510G>T (p.Thr170=)
TP53
17
7,675,102
7,675,102
Likely benign
C
A
false
reverse
12,388
1,384
1,384
1,802,454
NM_000546.6(TP53):c.510G>C (p.Thr170=)
TP53
17
7,675,102
7,675,102
Likely benign
C
G
false
reverse
12,388
208
208
185,373
NM_000546.6(TP53):c.510G>A (p.Thr170=)
TP53
17
7,675,102
7,675,102
Benign/Likely benign
C
T
false
reverse
12,388
966
966
622,617
NM_000546.6(TP53):c.511G>T (p.Glu171Ter)
TP53
17
7,675,101
7,675,101
Pathogenic
C
A
true
reverse
12,389
1,385
1,385
1,802,577
NM_000546.6(TP53):c.512A>G (p.Glu171Gly)
TP53
17
7,675,100
7,675,100
Pathogenic
T
C
true
reverse
12,390
721
721
479,323
NM_000546.6(TP53):c.513G>A (p.Glu171=)
TP53
17
7,675,099
7,675,099
Likely benign
C
T
false
reverse
12,391
1,515
1,515
2,422,010
NM_000546.6(TP53):c.513G>T (p.Glu171Asp)
TP53
17
7,675,099
7,675,099
Pathogenic
C
A
true
reverse
12,391
1,317
1,317
1,527,707
NM_000546.6(TP53):c.516T>C (p.Val172=)
TP53
17
7,675,096
7,675,096
Likely benign
A
G
false
reverse
12,394
490
490
363,547
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
TP53
17
7,675,095
7,675,095
Pathogenic/Likely pathogenic
C
A
true
reverse
12,395
287
287
232,035
NM_000546.6(TP53):c.517G>A (p.Val173Met)
TP53
17
7,675,095
7,675,095
Pathogenic
C
T
true
reverse
12,395
396
396
362,896
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
TP53
17
7,675,094
7,675,094
Pathogenic/Likely pathogenic
A
G
true
reverse
12,396
1,344
1,344
1,605,261
NM_000546.6(TP53):c.519G>C (p.Val173=)
TP53
17
7,675,093
7,675,093
Likely benign
C
G
false
reverse
12,397
1,383
1,383
1,799,592
NM_000546.6(TP53):c.519G>T (p.Val173=)
TP53
17
7,675,093
7,675,093
Likely benign
C
A
false
reverse
12,397
857
857
506,749
NM_000546.6(TP53):c.519G>A (p.Val173=)
TP53
17
7,675,093
7,675,093
Likely benign
C
T
false
reverse
12,397
615
615
410,272
NM_000546.6(TP53):c.521G>A (p.Arg174Lys)
TP53
17
7,675,091
7,675,091
Likely benign
C
T
false
reverse
12,399
472
472
363,528
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
TP53
17
7,675,089
7,675,089
Pathogenic/Likely pathogenic
G
C
true
reverse
12,401
163
163
181,010
NM_000546.6(TP53):c.524G>T (p.Arg175Leu)
TP53
17
7,675,088
7,675,088
Pathogenic/Likely pathogenic
C
A
true
reverse
12,402
23
23
27,413
NM_000546.6(TP53):c.524G>A (p.Arg175His)
TP53
17
7,675,088
7,675,088
Pathogenic
C
T
true
reverse
12,402
1,341
1,341
1,603,133
NM_000546.6(TP53):c.525C>T (p.Arg175=)
TP53
17
7,675,087
7,675,087
Likely benign
G
A
false
reverse
12,403
406
406
363,448
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
TP53
17
7,675,085
7,675,085
Pathogenic/Likely pathogenic
C
A
true
reverse
12,405
207
207
185,371
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
TP53
17
7,675,085
7,675,085
Pathogenic
C
T
true
reverse
12,405
1,393
1,393
1,806,154
NM_000546.6(TP53):c.528C>A (p.Cys176Ter)
TP53
17
7,675,084
7,675,084
Pathogenic
G
T
true
reverse
12,406
669
669
468,390
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)
TP53
17
7,675,082
7,675,082
Pathogenic/Likely pathogenic
G
C
true
reverse
12,408
1,081
1,081
814,488
NM_000546.6(TP53):c.531C>G (p.Pro177=)
TP53
17
7,675,081
7,675,081
Likely benign
G
C
false
reverse
12,409
1,491
1,491
2,083,260
NM_000546.6(TP53):c.531C>A (p.Pro177=)
TP53
17
7,675,081
7,675,081
Likely benign
G
T
false
reverse
12,409
1,253
1,253
1,161,408
NM_000546.6(TP53):c.531C>T (p.Pro177=)
TP53
17
7,675,081
7,675,081
Likely benign
G
A
false
reverse
12,409
756
756
480,057
NM_000546.6(TP53):c.532C>G (p.His178Asp)
TP53
17
7,675,080
7,675,080
Likely pathogenic
G
C
true
reverse
12,410
893
893
569,777
NM_000546.6(TP53):c.534C>A (p.His178Gln)
TP53
17
7,675,078
7,675,078
Pathogenic/Likely pathogenic
G
T
true
reverse
12,412
1,170
1,170
928,554
NM_000546.6(TP53):c.534C>G (p.His178Gln)
TP53
17
7,675,078
7,675,078
Pathogenic/Likely pathogenic
G
C
true
reverse
12,412
755
755
480,055
NM_000546.6(TP53):c.534C>T (p.His178=)
TP53
17
7,675,078
7,675,078
Likely benign
G
A
false
reverse
12,412
53
53
133,272
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
TP53
17
7,675,077
7,675,077
Pathogenic/Likely pathogenic
G
A
true
reverse
12,413
573
573
402,563
NM_000546.6(TP53):c.537T>A (p.His179Gln)
TP53
17
7,675,075
7,675,075
Pathogenic
A
T
true
reverse
12,415
440
440
363,486
NM_000546.6(TP53):c.537T>G (p.His179Gln)
TP53
17
7,675,075
7,675,075
Pathogenic/Likely pathogenic
A
C
true
reverse
12,415
322
322
236,487
NM_000546.6(TP53):c.537T>C (p.His179=)
TP53
17
7,675,075
7,675,075
Likely benign
A
G
false
reverse
12,415
965
965
622,615
NM_000546.6(TP53):c.538G>T (p.Glu180Ter)
TP53
17
7,675,074
7,675,074
Pathogenic
C
A
true
reverse
12,416
366
366
245,073
NM_000546.6(TP53):c.538G>A (p.Glu180Lys)
TP53
17
7,675,074
7,675,074
Likely pathogenic
C
T
true
reverse
12,416
1,582
1,582
2,978,652
NM_000546.6(TP53):c.540G>A (p.Glu180=)
TP53
17
7,675,072
7,675,072
Likely benign
C
T
false
reverse
12,418
1,080
1,080
814,487
NM_000546.6(TP53):c.542G>C (p.Arg181Pro)
TP53
17
7,675,070
7,675,070
Pathogenic/Likely pathogenic
C
G
true
reverse
12,420
321
321
236,485
NM_000546.6(TP53):c.543C>T (p.Arg181=)
TP53
17
7,675,069
7,675,069
Likely benign
G
A
false
reverse
12,421
964
964
622,612
NM_000546.6(TP53):c.548C>G (p.Ser183Ter)
TP53
17
7,675,064
7,675,064
Pathogenic
G
C
true
reverse
12,426
1,527
1,527
2,668,013
NM_000546.6(TP53):c.549A>T (p.Ser183=)
TP53
17
7,675,063
7,675,063
Pathogenic
T
A
true
reverse
12,427
1,319
1,319
1,531,726
NM_000546.6(TP53):c.549A>C (p.Ser183=)
TP53
17
7,675,063
7,675,063
Likely benign
T
G
false
reverse
12,427
1,034
1,034
771,857
NM_000546.6(TP53):c.549A>G (p.Ser183=)
TP53
17
7,675,063
7,675,063
Likely benign
T
C
false
reverse
12,427
96
96
151,073
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)
TP53
17
7,675,058
7,675,058
Likely benign
C
T
false
reverse
12,432
206
206
185,369
NM_000546.6(TP53):c.555C>T (p.Ser185=)
TP53
17
7,675,057
7,675,057
Likely benign
G
A
false
reverse
12,433
1,394
1,394
1,806,528
NM_000546.6(TP53):c.555C>G (p.Ser185Arg)
TP53
17
7,675,057
7,675,057
Likely benign
G
C
false
reverse
12,433
572
572
402,562
NM_000546.6(TP53):c.556G>A (p.Asp186Asn)
TP53
17
7,675,056
7,675,056
Likely benign
C
T
false
reverse
12,434
205
205
185,368
NM_000546.6(TP53):c.558T>C (p.Asp186=)
TP53
17
7,675,054
7,675,054
Likely benign
A
G
false
reverse
12,436
320
320
236,484
NM_000546.6(TP53):c.558T>A (p.Asp186Glu)
TP53
17
7,675,054
7,675,054
Likely benign
A
T
false
reverse
12,436
1,016
1,016
653,524
NM_000546.6(TP53):c.559+1G>T
TP53
17
7,675,052
7,675,052
Pathogenic/Likely pathogenic
C
A
true
reverse
12,438
630
630
420,656
NM_000546.6(TP53):c.559+1G>A
TP53
17
7,675,052
7,675,052
Pathogenic/Likely pathogenic
C
T
true
reverse
12,438
990
990
623,215
NM_000546.6(TP53):c.559+2T>A
TP53
17
7,675,051
7,675,051
Pathogenic
A
T
true
reverse
12,439
1,013
1,013
653,036
NM_000546.6(TP53):c.559+6C>A
TP53
17
7,675,047
7,675,047
Likely benign
G
T
false
reverse
12,443