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