chrom
stringclasses 21
values | pos
int64 726k
195M
| ref
stringclasses 4
values | alt
stringclasses 4
values | label
bool 2
classes | consequence
stringclasses 11
values | pcr_confirmed
bool 2
classes | __index_level_0__
int64 0
504k
|
|---|---|---|---|---|---|---|---|
14
| 78,816,108
|
G
|
A
| true
|
3_prime_UTR
| false
| 324
|
14
| 78,816,110
|
C
|
T
| true
|
3_prime_UTR
| false
| 325
|
7
| 83,300,122
|
C
|
T
| true
|
missense
| false
| 327
|
7
| 109,869,173
|
G
|
T
| true
|
missense
| false
| 328
|
7
| 12,657,038
|
G
|
T
| true
|
synonymous
| false
| 329
|
1
| 131,624,811
|
C
|
T
| true
|
splice_polypyrimidine_tract
| false
| 330
|
1
| 171,854,798
|
T
|
C
| true
|
synonymous
| false
| 331
|
5
| 38,659,466
|
G
|
A
| true
|
5_prime_UTR
| false
| 332
|
11
| 69,885,651
|
G
|
T
| true
|
splice_region
| false
| 333
|
11
| 5,040,702
|
C
|
T
| true
|
3_prime_UTR
| false
| 334
|
11
| 34,040,106
|
G
|
A
| true
|
missense
| false
| 335
|
11
| 76,906,039
|
T
|
C
| true
|
missense
| false
| 336
|
X
| 168,095,972
|
C
|
A
| true
|
missense
| false
| 337
|
17
| 24,822,124
|
A
|
G
| true
|
3_prime_UTR
| false
| 338
|
7
| 65,919,506
|
C
|
T
| true
|
3_prime_UTR
| false
| 339
|
13
| 4,641,182
|
C
|
T
| true
|
3_prime_UTR
| false
| 340
|
13
| 12,498,539
|
T
|
A
| true
|
stop_gained
| false
| 341
|
13
| 73,832,362
|
G
|
A
| true
|
missense
| false
| 342
|
11
| 68,712,275
|
C
|
T
| true
|
stop_gained
| false
| 345
|
11
| 68,891,416
|
C
|
T
| true
|
5_prime_UTR
| false
| 346
|
16
| 64,586,994
|
A
|
T
| true
|
missense
| false
| 347
|
11
| 42,073,073
|
G
|
T
| true
|
3_prime_UTR
| false
| 348
|
11
| 120,846,179
|
A
|
G
| true
|
missense
| false
| 349
|
2
| 57,935,954
|
G
|
T
| true
|
3_prime_UTR
| false
| 350
|
12
| 3,547,000
|
G
|
T
| true
|
3_prime_UTR
| false
| 351
|
12
| 98,200,501
|
G
|
A
| true
|
3_prime_UTR
| false
| 352
|
12
| 3,302,646
|
G
|
A
| true
|
missense
| false
| 353
|
9
| 70,049,741
|
C
|
G
| true
|
missense
| false
| 354
|
9
| 70,049,743
|
C
|
G
| true
|
missense
| false
| 355
|
9
| 70,049,745
|
C
|
G
| true
|
splice_acceptor
| false
| 356
|
8
| 111,615,542
|
A
|
G
| true
|
splice_acceptor
| false
| 357
|
5
| 137,376,856
|
G
|
A
| true
|
synonymous
| false
| 358
|
5
| 142,946,377
|
G
|
A
| true
|
synonymous
| false
| 359
|
5
| 101,045,748
|
A
|
G
| true
|
missense
| false
| 360
|
4
| 107,237,817
|
G
|
T
| true
|
synonymous
| false
| 361
|
4
| 107,237,818
|
G
|
T
| true
|
synonymous
| false
| 362
|
1
| 116,508,377
|
T
|
C
| true
|
synonymous
| false
| 364
|
1
| 37,489,385
|
C
|
A
| true
|
missense
| false
| 366
|
1
| 150,262,207
|
A
|
G
| true
|
3_prime_UTR
| false
| 367
|
1
| 12,941,089
|
T
|
A
| true
|
5_prime_UTR
| false
| 368
|
X
| 162,771,410
|
T
|
A
| true
|
missense
| false
| 369
|
X
| 23,086,957
|
C
|
T
| true
|
missense
| false
| 370
|
X
| 71,992,873
|
G
|
A
| true
|
synonymous
| false
| 371
|
11
| 69,326,073
|
G
|
A
| true
|
missense
| false
| 372
|
17
| 32,351,175
|
C
|
T
| true
|
synonymous
| false
| 373
|
17
| 87,688,747
|
A
|
G
| true
|
missense
| false
| 374
|
17
| 31,866,145
|
A
|
T
| true
|
missense
| false
| 375
|
11
| 53,039,772
|
A
|
C
| true
|
missense
| false
| 376
|
11
| 101,919,064
|
G
|
T
| true
|
missense
| false
| 377
|
11
| 33,113,019
|
G
|
A
| true
|
stop_gained
| false
| 380
|
7
| 141,237,951
|
C
|
T
| true
|
synonymous
| false
| 381
|
7
| 55,946,958
|
C
|
G
| true
|
missense
| false
| 382
|
6
| 128,792,147
|
T
|
G
| true
|
splice_region
| false
| 384
|
6
| 100,811,663
|
C
|
T
| true
|
5_prime_UTR
| false
| 385
|
6
| 100,811,669
|
C
|
T
| true
|
5_prime_UTR
| false
| 386
|
2
| 174,172,110
|
A
|
G
| true
|
3_prime_UTR
| false
| 387
|
2
| 127,352,792
|
G
|
A
| true
|
3_prime_UTR
| false
| 388
|
2
| 135,062,692
|
C
|
T
| true
|
3_prime_UTR
| false
| 389
|
10
| 26,862,875
|
C
|
A
| true
|
splice_donor
| false
| 390
|
2
| 31,246,329
|
G
|
C
| true
|
missense
| false
| 391
|
2
| 31,246,331
|
A
|
G
| true
|
synonymous
| false
| 392
|
2
| 34,664,639
|
T
|
C
| true
|
stop_gained
| false
| 393
|
2
| 34,835,552
|
T
|
A
| true
|
3_prime_UTR
| false
| 394
|
7
| 46,421,430
|
C
|
A
| true
|
splice_polypyrimidine_tract
| false
| 395
|
7
| 23,116,858
|
T
|
G
| true
|
stop_gained
| false
| 396
|
7
| 29,048,041
|
G
|
A
| true
|
splice_acceptor
| false
| 397
|
7
| 59,654,893
|
G
|
A
| true
|
3_prime_UTR
| false
| 398
|
2
| 76,469,541
|
T
|
A
| true
|
3_prime_UTR
| false
| 399
|
12
| 80,804,350
|
C
|
T
| true
|
splice_acceptor
| false
| 400
|
12
| 85,523,342
|
A
|
T
| true
|
stop_gained
| false
| 401
|
13
| 100,840,997
|
C
|
T
| true
|
missense
| false
| 402
|
13
| 13,818,721
|
G
|
A
| true
|
missense
| false
| 403
|
12
| 112,729,855
|
G
|
T
| true
|
3_prime_UTR
| false
| 404
|
16
| 97,361,608
|
G
|
C
| true
|
missense
| false
| 405
|
6
| 91,371,534
|
G
|
A
| true
|
missense
| false
| 406
|
11
| 76,101,876
|
G
|
C
| true
|
missense
| false
| 407
|
11
| 78,430,860
|
G
|
A
| true
|
5_prime_UTR
| false
| 408
|
11
| 78,364,393
|
G
|
A
| true
|
5_prime_UTR
| false
| 409
|
3
| 27,237,192
|
C
|
T
| true
|
5_prime_UTR
| false
| 410
|
3
| 88,240,307
|
C
|
T
| true
|
3_prime_UTR
| false
| 412
|
19
| 46,121,562
|
G
|
A
| true
|
synonymous
| false
| 413
|
19
| 24,533,251
|
A
|
G
| true
|
3_prime_UTR
| false
| 414
|
19
| 8,691,000
|
G
|
A
| true
|
missense
| false
| 415
|
19
| 40,340,915
|
C
|
T
| true
|
synonymous
| false
| 416
|
1
| 128,235,631
|
A
|
G
| true
|
synonymous
| false
| 418
|
12
| 100,089,404
|
G
|
A
| true
|
splice_acceptor
| false
| 419
|
3
| 116,689,260
|
C
|
T
| true
|
splice_region
| false
| 421
|
3
| 95,743,035
|
G
|
A
| true
|
3_prime_UTR
| false
| 422
|
17
| 74,138,783
|
G
|
T
| true
|
splice_acceptor
| false
| 423
|
17
| 74,138,786
|
G
|
T
| true
|
missense
| false
| 424
|
5
| 28,599,033
|
C
|
T
| true
|
missense
| false
| 425
|
10
| 10,658,528
|
C
|
T
| true
|
missense
| false
| 426
|
3
| 145,020,406
|
C
|
T
| true
|
missense
| false
| 427
|
3
| 89,266,476
|
G
|
A
| true
|
splice_donor
| false
| 428
|
3
| 137,618,434
|
T
|
C
| true
|
3_prime_UTR
| false
| 429
|
3
| 93,126,833
|
A
|
G
| true
|
3_prime_UTR
| false
| 430
|
3
| 89,117,754
|
A
|
T
| true
|
missense
| false
| 431
|
5
| 8,180,171
|
T
|
C
| true
|
5_prime_UTR
| false
| 432
|
5
| 134,276,240
|
G
|
T
| true
|
synonymous
| false
| 433
|
5
| 23,637,403
|
T
|
C
| true
|
5_prime_UTR
| false
| 434
|
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