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
|
|---|---|---|---|---|---|---|---|
11
| 71,063,202
|
C
|
T
| true
|
synonymous
| false
| 208
|
11
| 71,063,205
|
A
|
T
| true
|
synonymous
| false
| 209
|
2
| 128,967,921
|
G
|
A
| true
|
missense
| false
| 213
|
2
| 112,184,627
|
G
|
T
| true
|
missense
| false
| 214
|
11
| 89,877,017
|
A
|
G
| true
|
5_prime_UTR
| false
| 215
|
15
| 35,937,764
|
T
|
C
| true
|
5_prime_UTR
| false
| 216
|
15
| 35,937,769
|
G
|
T
| true
|
5_prime_UTR
| false
| 217
|
15
| 85,942,973
|
C
|
G
| true
|
missense
| false
| 218
|
15
| 101,644,992
|
C
|
T
| true
|
missense
| false
| 219
|
15
| 81,320,972
|
G
|
T
| true
|
missense
| false
| 220
|
2
| 73,653,660
|
A
|
G
| true
|
stop_gained
| false
| 221
|
2
| 32,243,095
|
C
|
G
| true
|
stop_gained
| false
| 222
|
2
| 156,109,461
|
G
|
A
| true
|
stop_gained
| false
| 223
|
5
| 34,857,834
|
C
|
A
| true
|
missense
| false
| 224
|
5
| 34,857,835
|
A
|
G
| true
|
missense
| false
| 225
|
12
| 4,929,294
|
C
|
T
| true
|
missense
| false
| 226
|
14
| 56,179,801
|
T
|
G
| true
|
missense
| false
| 227
|
14
| 32,047,865
|
G
|
A
| true
|
missense
| false
| 228
|
19
| 44,391,661
|
G
|
T
| true
|
missense
| false
| 230
|
10
| 80,120,005
|
G
|
A
| true
|
missense
| false
| 231
|
10
| 127,531,313
|
G
|
T
| true
|
splice_region
| false
| 232
|
X
| 121,304,781
|
C
|
T
| true
|
splice_region
| false
| 233
|
14
| 70,715,471
|
T
|
C
| true
|
splice_region
| false
| 234
|
16
| 43,777,262
|
C
|
T
| true
|
missense
| false
| 235
|
19
| 4,675,607
|
C
|
A
| true
|
missense
| false
| 237
|
X
| 98,864,793
|
C
|
G
| true
|
synonymous
| false
| 238
|
8
| 19,209,474
|
G
|
A
| true
|
3_prime_UTR
| false
| 239
|
5
| 75,776,055
|
C
|
A
| true
|
3_prime_UTR
| false
| 240
|
15
| 77,373,978
|
T
|
G
| true
|
3_prime_UTR
| false
| 241
|
15
| 92,148,845
|
G
|
A
| true
|
missense
| false
| 242
|
15
| 100,286,488
|
G
|
T
| true
|
missense
| false
| 243
|
18
| 37,828,377
|
C
|
G
| true
|
missense
| false
| 244
|
2
| 155,662,025
|
T
|
A
| true
|
missense
| false
| 245
|
2
| 109,729,638
|
T
|
C
| true
|
5_prime_UTR
| false
| 246
|
2
| 37,683,500
|
C
|
A
| true
|
missense
| false
| 247
|
2
| 57,254,644
|
C
|
A
| true
|
missense
| false
| 248
|
2
| 179,720,560
|
G
|
C
| true
|
missense
| false
| 249
|
2
| 179,720,561
|
A
|
G
| true
|
missense
| false
| 250
|
2
| 24,291,607
|
G
|
A
| true
|
missense
| false
| 251
|
2
| 165,529,583
|
G
|
T
| true
|
missense
| false
| 252
|
2
| 167,818,373
|
C
|
G
| true
|
synonymous
| false
| 253
|
2
| 165,931,211
|
C
|
T
| true
|
missense
| false
| 254
|
14
| 104,080,568
|
G
|
A
| true
|
synonymous
| false
| 255
|
11
| 114,695,304
|
C
|
G
| true
|
missense
| false
| 256
|
11
| 114,695,305
|
C
|
A
| true
|
stop_gained
| false
| 257
|
11
| 68,650,506
|
G
|
T
| true
|
stop_gained
| false
| 258
|
11
| 71,171,613
|
G
|
C
| true
|
5_prime_UTR
| false
| 260
|
10
| 79,560,614
|
G
|
A
| true
|
5_prime_UTR
| false
| 261
|
10
| 111,317,122
|
C
|
T
| true
|
5_prime_UTR
| false
| 262
|
9
| 106,313,967
|
G
|
A
| true
|
missense
| false
| 263
|
9
| 37,340,882
|
T
|
C
| true
|
missense
| false
| 264
|
15
| 59,887,164
|
C
|
T
| true
|
missense
| false
| 265
|
15
| 54,616,300
|
A
|
G
| true
|
splice_polypyrimidine_tract
| false
| 266
|
15
| 92,143,687
|
T
|
G
| true
|
missense
| false
| 267
|
7
| 144,131,511
|
G
|
A
| true
|
splice_region
| false
| 268
|
7
| 107,380,728
|
C
|
T
| true
|
3_prime_UTR
| false
| 269
|
7
| 99,738,913
|
A
|
G
| true
|
3_prime_UTR
| false
| 270
|
7
| 27,217,844
|
A
|
G
| true
|
3_prime_UTR
| false
| 271
|
7
| 118,041,739
|
G
|
C
| true
|
missense
| false
| 272
|
18
| 45,818,486
|
A
|
T
| true
|
synonymous
| false
| 273
|
13
| 25,084,873
|
A
|
G
| true
|
missense
| false
| 274
|
13
| 25,084,876
|
A
|
G
| true
|
stop_gained
| false
| 275
|
13
| 55,574,106
|
G
|
A
| true
|
stop_gained
| false
| 276
|
13
| 54,907,746
|
C
|
G
| true
|
missense
| false
| 278
|
1
| 92,804,826
|
G
|
A
| true
|
3_prime_UTR
| false
| 279
|
1
| 36,578,628
|
G
|
T
| true
|
missense
| false
| 280
|
X
| 7,762,084
|
C
|
T
| true
|
synonymous
| false
| 281
|
10
| 23,672,893
|
C
|
G
| true
|
3_prime_UTR
| false
| 282
|
8
| 35,949,883
|
A
|
T
| true
|
missense
| false
| 283
|
17
| 36,145,591
|
C
|
A
| true
|
missense
| false
| 284
|
6
| 131,284,051
|
G
|
T
| true
|
3_prime_UTR
| false
| 285
|
7
| 27,545,848
|
G
|
T
| true
|
missense
| false
| 286
|
18
| 67,554,302
|
G
|
A
| true
|
missense
| false
| 287
|
4
| 123,206,783
|
G
|
T
| true
|
3_prime_UTR
| false
| 288
|
8
| 123,356,713
|
C
|
T
| true
|
stop_gained
| false
| 289
|
11
| 96,825,927
|
G
|
T
| true
|
3_prime_UTR
| false
| 290
|
18
| 45,788,313
|
G
|
A
| true
|
missense
| false
| 291
|
7
| 49,567,357
|
G
|
A
| true
|
synonymous
| false
| 292
|
13
| 11,607,930
|
T
|
C
| true
|
3_prime_UTR
| false
| 293
|
13
| 11,607,931
|
C
|
A
| true
|
missense
| false
| 294
|
7
| 81,123,210
|
G
|
A
| true
|
missense
| false
| 295
|
1
| 93,003,940
|
G
|
A
| true
|
missense
| false
| 297
|
4
| 32,022,770
|
G
|
A
| true
|
missense
| false
| 298
|
4
| 139,465,674
|
G
|
C
| true
|
missense
| false
| 300
|
4
| 130,508,459
|
C
|
T
| true
|
missense
| false
| 301
|
4
| 130,508,460
|
C
|
T
| true
|
synonymous
| false
| 302
|
1
| 92,983,967
|
G
|
A
| true
|
synonymous
| false
| 303
|
6
| 120,498,238
|
G
|
A
| true
|
missense
| false
| 309
|
6
| 83,009,505
|
C
|
T
| true
|
5_prime_UTR
| false
| 310
|
6
| 125,340,543
|
G
|
A
| true
|
synonymous
| false
| 311
|
6
| 47,922,417
|
G
|
A
| true
|
missense
| false
| 312
|
2
| 22,796,937
|
G
|
A
| true
|
synonymous
| false
| 313
|
4
| 42,958,182
|
T
|
A
| true
|
synonymous
| false
| 314
|
4
| 137,720,460
|
C
|
T
| true
|
3_prime_UTR
| false
| 315
|
5
| 75,801,836
|
C
|
T
| true
|
stop_gained
| false
| 316
|
5
| 65,751,873
|
T
|
C
| true
|
3_prime_UTR
| false
| 317
|
18
| 3,434,966
|
C
|
T
| true
|
synonymous
| false
| 319
|
18
| 34,761,839
|
G
|
A
| true
|
missense
| false
| 320
|
18
| 31,781,322
|
G
|
A
| true
|
missense
| false
| 321
|
14
| 54,870,928
|
G
|
A
| true
|
stop_gained
| false
| 323
|
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