File Info
- Filename
- comparison/variant_classification.tsv
- Full Path
- s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/c2/607f16440c89581e40dbc10bad76fb/comparison/variant_classification.tsv
- Size
- 10.9 KB
- Attempt
Content
View in new tab| specimen_id | sample_id | chrom | pos | ref | alt | variant_type | original_variant_type | region | truth_vaf | pass_in_truth | is_hotspot | hotspot_label | exp_vaf | pass_in_exp | classification | test_vcf_status | test_vcf_filter | test_vcf_tumor_vaf | test_vcf_tumor_dp | test_vcf_tumor_ad_ref | test_vcf_tumor_ad_alt | test_vcf_normal_vaf | test_vcf_normal_dp | test_vcf_normal_ad_ref | test_vcf_normal_ad_alt |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr1 | 119916592 | G | A | SNV | SNV | boosted_exome | 0.4672000110149383 | True | False | nan | 0.4749999940395355 | True | TP | called_pass | PASS | 0.4749999940395355 | 4606 | 2410 | 2196 | 0.0021200000774115 | 1124 | 1123 | 1 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr1 | 158636760 | C | T | SNV | SNV | boosted_exome | 0.521399974822998 | True | False | nan | 0.6110000014305115 | True | TP | called_pass | PASS | 0.6110000014305115 | 4448 | 1715 | 2733 | 0.0012900000438094 | 1001 | 1001 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr2 | 25743239 | G | A | SNV | SNV | boosted_exome | 0.5317999720573425 | True | False | nan | 0.5099999904632568 | True | TP | called_pass | PASS | 0.5099999904632568 | 4097 | 2019 | 2078 | 0.000722000026144 | 1658 | 1658 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr2 | 47800285 | C | T | SNV | SNV | boosted_exome | 0.3411000072956085 | True | False | nan | 0.3400000035762787 | True | TP | called_pass | PASS | 0.3400000035762787 | 2568 | 1691 | 877 | 0.0009069999796338 | 1319 | 1318 | 1 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr3 | 179234297 | A | G | SNV | SNV | boosted_exome | 0.5263000130653381 | True | True | PIK3CA p.His1047 | 0.4729999899864197 | True | TP | called_pass | PASS | 0.4729999899864197 | 3315 | 1734 | 1581 | 0.000304999994114 | 3970 | 3968 | 2 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr4 | 55115369 | C | T | SNV | SNV | boosted_exome | 0.4438999891281128 | True | False | nan | 0.3479999899864197 | True | TP | called_pass | PASS | 0.3479999899864197 | 1202 | 784 | 418 | 0.0013399999588727 | 968 | 968 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr5 | 1295135 | G | A | SNV | SNV | boosted_exome | 0.8174999952316284 | True | False | nan | 0.8519999980926514 | True | TP | called_pass | PASS | 0.8519999980926514 | 2336 | 332 | 2004 | 0.0010199999669566 | 1139 | 1138 | 1 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr5 | 56882468 | A | G | SNV | SNV | boosted_exome | 0.8391000032424927 | True | False | nan | 0.8289999961853027 | True | TP | called_pass | PASS | 0.8289999961853027 | 2440 | 417 | 2023 | 0.001010000007227 | 1131 | 1131 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr6 | 32213715 | G | A | SNV | SNV | boosted_exome | 0.2373999953269958 | True | False | nan | 0.2349999994039535 | True | TP | called_pass | PASS | 0.2349999994039535 | 4996 | 3810 | 1186 | 0.0008270000107586 | 1578 | 1578 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr6 | 93410659 | G | A | SNV | SNV | boosted_exome | 0.4469000101089477 | True | False | nan | 0.4860000014305115 | True | TP | called_pass | PASS | 0.4860000014305115 | 4697 | 2417 | 2280 | 0.0007489999989047 | 1594 | 1594 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr6 | 117324413 | C | T | SNV | SNV | boosted_exome | 0.4377999901771545 | True | False | nan | 0.4930000007152557 | True | TP | called_pass | PASS | 0.4930000007152557 | 1738 | 872 | 866 | 0.0017099999822676 | 1337 | 1336 | 1 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr7 | 140753336 | A | T | SNV | SNV | boosted_exome | 0.6837000250816345 | True | True | BRAF p.Val600 | 0.6779999732971191 | True | TP | called_pass | PASS | 0.6779999732971191 | 3266 | 1043 | 2223 | 0.0021100000012665 | 2476 | 2470 | 6 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr7 | 148827209 | G | A | SNV | SNV | boosted_exome | 0.226500004529953 | True | False | nan | 0.2000000029802322 | True | TP | called_pass | PASS | 0.2000000029802322 | 1441 | 1158 | 283 | 0.0017800000496208 | 756 | 756 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr8 | 47840077 | G | A | SNV | SNV | boosted_exome | 0.2162999957799911 | True | False | nan | 0.2560000121593475 | True | TP | called_pass | PASS | 0.2560000121593475 | 1810 | 1341 | 469 | 0.0016599999507889 | 829 | 829 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr8 | 68192376 | G | A | SNV | SNV | boosted_exome | 0.5712000131607056 | True | False | nan | 0.5929999947547913 | True | TP | called_pass | PASS | 0.5929999947547913 | 1623 | 667 | 956 | 0.0027999999001622 | 436 | 436 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr9 | 125149801 | G | A | SNV | SNV | boosted_exome | 0.833299994468689 | True | False | nan | 0.8199999928474426 | True | TP | called_pass | PASS | 0.8199999928474426 | 1318 | 244 | 1074 | 0.0011500000255182 | 1104 | 1104 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr12 | 69574155 | C | T | SNV | SNV | boosted_exome | 0.2960000038146972 | True | False | nan | 0.2820000052452087 | True | TP | called_pass | PASS | 0.2820000052452087 | 4095 | 2961 | 1134 | 0.0007820000173524 | 1592 | 1592 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr12 | 69574155 | CT | TC | MNV | MNV | boosted_exome | 0.2960000038146972 | True | False | nan | False | FN | |||||||||||
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr12 | 69574156 | T | C | SNV | SNV | boosted_exome | 0.2967000007629394 | True | False | nan | 0.2820000052452087 | True | TP | called_pass | PASS | 0.2820000052452087 | 4095 | 2961 | 1134 | 0.0007820000173524 | 1592 | 1592 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr13 | 101722929 | C | T | SNV | SNV | boosted_exome | 0.5023999810218811 | True | False | nan | 0.5299999713897705 | True | TP | called_pass | PASS | 0.5299999713897705 | 5380 | 2524 | 2856 | 0.0019399999873712 | 1269 | 1267 | 2 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr17 | 40349793 | C | T | SNV | SNV | boosted_exome | 0.0837000012397766 | True | False | nan | 0.0995000004768371 | True | TP | called_pass | PASS | 0.0995000004768371 | 3377 | 3049 | 328 | 0.0012799999676644 | 999 | 999 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr18 | 45038510 | G | A | SNV | SNV | boosted_exome | 0.7935000061988831 | True | False | nan | 0.8379999995231628 | True | TP | called_pass | PASS | 0.8379999995231628 | 1773 | 295 | 1478 | 0.0013299999991431 | 948 | 948 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr19 | 10489778 | G | A | SNV | SNV | boosted_exome | 0.3007000088691711 | True | False | nan | 0.2809999883174896 | True | TP | called_pass | PASS | 0.2809999883174896 | 3729 | 2683 | 1046 | 0.0010999999940395 | 1237 | 1237 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr19 | 11034992 | C | T | SNV | SNV | boosted_exome | 0.2737999856472015 | True | False | nan | 0.2809999883174896 | True | TP | called_pass | PASS | 0.2809999883174896 | 4351 | 3139 | 1212 | 0.0016100000357255 | 1534 | 1532 | 2 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr19 | 41256496 | C | T | SNV | SNV | boosted_exome | 0.2813999950885772 | True | False | nan | 0.2840000092983246 | True | TP | called_pass | PASS | 0.2840000092983246 | 3272 | 2333 | 939 | 0.0011800000211223 | 1127 | 1127 | 0 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chr20 | 58854030 | C | T | SNV | SNV | boosted_exome | 0.446399986743927 | True | False | nan | 0.4699999988079071 | True | TP | called_pass | PASS | 0.4699999988079071 | 6598 | 3470 | 3128 | 0.0013999999500811 | 1713 | 1711 | 2 |
| 1029_05O | 1029_05O-T1-TDNA-1_23K7YCLT4_1_vs_1029_05O-N1-BDNA-1_235YY7LT3_1 | chrX | 53195038 | C | T | SNV | SNV | boosted_exome | 0.1709000021219253 | True | False | nan | 0.164000004529953 | True | TP | called_pass | PASS | 0.164000004529953 | 3865 | 3219 | 646 | 0.0008040000102482 | 1510 | 1510 | 0 |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr2 | 25234373 | C | T | SNV | SNV | boosted_exome | 0.0164000000804662 | True | False | nan | False | FN | called_hard_filtered | normal_artifact;high_normal_vaf | 0.0207000002264976 | 5592 | 5477 | 115 | 0.0847000032663345 | 1178 | 1086 | 92 | |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr4 | 1806149 | C | T | SNV | SNV | boosted_exome | 0.0619000010192394 | True | False | nan | 0.0702999979257583 | True | TP | called_pass | PASS | 0.0702999979257583 | 2674 | 2480 | 194 | 0.0010400000028312 | 1182 | 1182 | 0 |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr8 | 47779083 | C | G | SNV | SNV | boosted_exome | 0.0615000016987323 | True | False | nan | 0.0555999986827373 | True | TP | called_pass | PASS | 0.0555999986827373 | 1225 | 1160 | 65 | 0.001700000022538 | 772 | 772 | 0 |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr17 | 48723750 | G | A | SNV | SNV | nonboosted_exome | 0.0153000000864267 | True | False | nan | False | FN | called_hard_filtered | normal_artifact;high_normal_vaf | 0.0105999996885657 | 2190 | 2167 | 23 | 0.0284000001847744 | 483 | 471 | 12 | |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr19 | 5210563 | C | T | SNV | SNV | boosted_exome | 0.0388999991118907 | True | False | nan | False | FN | called_hard_filtered | normal_artifact;high_normal_vaf | 0.0544000007212162 | 3736 | 3528 | 208 | 0.1360000073909759 | 1173 | 1005 | 168 | |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr19 | 11034986 | G | A | SNV | SNV | boosted_exome | 0.0595000013709068 | True | False | nan | 0.0740000009536743 | True | TP | called_pass | PASS | 0.0740000009536743 | 3919 | 3629 | 290 | 0.0015300000086426 | 1408 | 1407 | 1 |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr20 | 32434483 | T | TA | INDEL | INDEL | boosted_exome | 0.0181000009179115 | True | False | nan | False | FN | |||||||||||
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chrX | 77574296 | A | G | SNV | SNV | boosted_exome | 0.0270000007003545 | True | False | nan | False | FN | called_hard_filtered | haplotype | 0.0483999997377395 | 1091 | 1038 | 53 | 0.0020999999251216 | 665 | 665 | 0 | |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chrX | 101353979 | C | A | SNV | SNV | boosted_exome | 0.0564999990165233 | True | False | nan | 0.0791999995708465 | True | TP | called_pass | PASS | 0.0791999995708465 | 1911 | 1752 | 159 | 0.0015600000042468 | 837 | 837 | 0 |
| 1029_032 | 1029_032-T1-TDNA-1_23K7YCLT4_1_vs_1029_032-N1-BDNA-1_235YY7LT3_1 | chr2 | 108782708 | C | T | SNV | SNV | boosted_exome | False | False | nan | 0.0226000007241964 | True | FP | called_pass | PASS | 0.0226000007241964 | 1575 | 1538 | 37 | 0.0009810000192373 | 1217 | 1217 | 0 | |
| 1029_032 | 1029_032-T1-TDNA-1_23K7YCLT4_1_vs_1029_032-N1-BDNA-1_235YY7LT3_1 | chr11 | 108343277 | C | G | SNV | SNV | boosted_exome | False | False | nan | 0.0320999994874 | True | FP | called_pass | PASS | 0.0320999994874 | 1426 | 1381 | 45 | 0.001010000007227 | 1344 | 1344 | 0 | |
| 1029_032 | 1029_032-T1-TDNA-1_23K7YCLT4_1_vs_1029_032-N1-BDNA-1_235YY7LT3_1 | chr13 | 28061918 | A | G | SNV | SNV | boosted_exome | False | False | nan | 0.0226000007241964 | True | FP | called_pass | PASS | 0.0226000007241964 | 1618 | 1582 | 36 | 0.0016299999551847 | 790 | 790 | 0 | |
| 1029_032 | 1029_032-T1-TDNA-1_23K7YCLT4_1_vs_1029_032-N1-BDNA-1_235YY7LT3_1 | chrX | 44873590 | T | C | SNV | SNV | boosted_exome | False | False | nan | 0.0027099999133497 | True | FP | called_pass | PASS | 0.0027099999133497 | 9262 | 9115 | 147 | 0.0022599999792873 | 1941 | 1912 | 29 | |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr2 | 108765171 | A | G | SNV | SNV | boosted_exome | False | False | nan | 0.004139999859035 | True | FP | called_pass | PASS | 0.004139999859035 | 2854 | 2842 | 12 | 0.0012700000079348 | 1804 | 1803 | 1 | |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr3 | 185480362 | G | C | SNV | SNV | boosted_exome | False | False | nan | 0.0052800001576542 | True | FP | called_pass | PASS | 0.0052800001576542 | 5131 | 5104 | 27 | 0.0009740000241436 | 1253 | 1253 | 0 | |
| 1029_0DT | 1029_0DT-T1-TDNA-1_23K7YCLT4_1_vs_1029_0DT-N1-BDNA-1_235YY7LT3_1 | chr22 | 21805981 | G | A | SNV | SNV | boosted_exome | False | False | nan | 0.0078900000080466 | True | FP | called_pass | PASS | 0.0078900000080466 | 1173 | 1163 | 10 | 0.0022700000554323 | 599 | 599 | 0 |
44 rows