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