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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