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| Study ID | Variant ID | Variant Region type | Variant Call type | Sampleset ID | Method | Analysis ID | Validation | Variant samples | Subject phenotype | Clinical Interpretation | Assembly | Accession | Chr | Outer-Start | Start | Inner-Start | Inner-End | End | Outer-End | Placement Type | Remap Score |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd194 | essv4499313 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 913449 | 913450 | Remapped | 1 | ||||||||
| estd194 | essv4499370 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1056426 | 1056432 | Remapped | 1 | ||||||||
| estd194 | essv4502397 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1145767 | 1145768 | Remapped | 1 | ||||||||
| estd194 | essv4504147 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 887803 | 887804 | Remapped | 1 | ||||||||
| estd194 | essv4521886 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 967377 | 967378 | Remapped | 1 | ||||||||
| estd194 | essv4531065 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 890040 | 890040 | Remapped | 1 | ||||||||
| estd194 | essv4538119 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1071134 | 1071134 | Remapped | 1 | ||||||||
| estd194 | essv4543376 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 923312 | 923313 | Remapped | 1 | ||||||||
| estd194 | essv4545476 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 869214 | 869215 | Remapped | 1 | ||||||||
| estd194 | essv4546012 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 947401 | 947401 | Remapped | 1 | ||||||||
| estd194 | essv4551437 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 857949 | 857949 | Remapped | 1 | ||||||||
| estd194 | essv4560942 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 858034 | 858034 | Remapped | 1 | ||||||||
| estd194 | essv4563074 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 855379 | 855381 | Remapped | 1 | ||||||||
| estd194 | essv4577878 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 949170 | 949174 | Remapped | 1 | ||||||||
| estd194 | essv4578475 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1014734 | 1014738 | Remapped | 1 | ||||||||
| estd194 | essv4581149 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1257407 | 1257407 | Remapped | 1 | ||||||||
| estd194 | essv4599196 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 907237 | 907238 | Remapped | 1 | ||||||||
| estd194 | essv4603463 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 845678 | 845679 | Remapped | 1 | ||||||||
| estd194 | essv4612272 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880432 | 880436 | Remapped | 1 | ||||||||
| estd194 | essv4618680 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1056279 | 1056280 | Remapped | 1 | ||||||||
| estd194 | essv4623027 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 881033 | 881034 | Remapped | 1 | ||||||||
| estd194 | essv4624832 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 897581 | 897582 | Remapped | 1 | ||||||||
| estd194 | essv4626256 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 816120 | 816120 | Remapped | 1 | ||||||||
| estd194 | essv4632644 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1013042 | 1013042 | Remapped | 1 | ||||||||
| estd194 | essv4632859 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1168311 | 1168311 | Remapped | 1 | ||||||||
| estd194 | essv4632864 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1292285 | 1292289 | Remapped | 1 | ||||||||
| estd194 | essv4633039 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1276223 | 1276223 | Remapped | 1 | ||||||||
| estd194 | essv4637190 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 885983 | 885984 | Remapped | 1 | ||||||||
| estd194 | essv4637431 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 993603 | 993603 | Remapped | 1 | ||||||||
| estd194 | essv4641708 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 937397 | 937399 | Remapped | 1 | ||||||||
| estd194 | essv4643302 | deletion | Sequencing | Paired-end mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 936113 | 936265 | 936403 | 936487 | Remapped | 1 | ||||||
| estd194 | essv4652510 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1263832 | 1263832 | Remapped | 1 | ||||||||
| estd194 | essv4655423 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1175608 | 1175608 | Remapped | 1 | ||||||||
| estd194 | essv4655576 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1125127 | 1125127 | Remapped | 1 | ||||||||
| estd194 | essv4657198 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 958079 | 958083 | Remapped | 1 | ||||||||
| estd194 | essv4659504 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 898758 | 898758 | Remapped | 1 | ||||||||
| estd194 | essv4664265 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880282 | 880283 | Remapped | 1 | ||||||||
| estd194 | essv4679214 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1005430 | 1005430 | Remapped | 1 | ||||||||
| estd194 | essv4679757 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 971898 | 971903 | Remapped | 1 | ||||||||
| estd194 | essv4686404 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 889956 | 889956 | Remapped | 1 | ||||||||
| estd194 | essv4688308 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 882961 | 882964 | Remapped | 1 | ||||||||
| estd194 | essv4698939 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 943137 | 943138 | Remapped | 1 | ||||||||
| estd194 | essv4714993 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1278408 | 1278408 | Remapped | 1 | ||||||||
| estd194 | essv4717325 | deletion | Sequencing | Paired-end mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1151270 | 1151406 | 1151642 | 1151801 | Remapped | 1 | ||||||
| estd194 | essv4727028 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1017115 | 1017115 | Remapped | 1 | ||||||||
| estd194 | essv4728354 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 784110 | 784110 | Remapped | 1 | ||||||||
| estd194 | essv4728356 | deletion | Sequencing | Paired-end mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1288188 | 1288230 | 1290263 | 1290369 | Remapped | 1 | ||||||
| estd194 | essv4734709 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 951438 | 951438 | Remapped | 1 | ||||||||
| estd194 | essv4738339 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 855317 | 855317 | Remapped | 1 | ||||||||
| estd194 | essv4740070 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 890403 | 890404 | Remapped | 1 | ||||||||
| estd194 | essv4745538 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1005773 | 1005773 | Remapped | 1 | ||||||||
| estd194 | essv4747090 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1050079 | 1050080 | Remapped | 1 | ||||||||
| estd194 | essv4748026 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1296824 | 1296824 | Remapped | 1 | ||||||||
| estd194 | essv4752389 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 881168 | 881170 | Remapped | 1 | ||||||||
| estd194 | essv4755316 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880963 | 880964 | Remapped | 1 | ||||||||
| estd194 | essv4765084 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 851690 | 851692 | Remapped | 1 | ||||||||
| estd194 | essv4769553 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 890447 | 890447 | Remapped | 1 | ||||||||
| estd194 | essv4775799 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1028320 | 1028321 | Remapped | 1 | ||||||||
| estd194 | essv4784349 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1059016 | 1059017 | Remapped | 1 | ||||||||
| estd194 | essv4789698 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 886993 | 886993 | Remapped | 1 | ||||||||
| estd194 | essv4793385 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880422 | 880422 | Remapped | 1 | ||||||||
| estd194 | essv4799333 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 989069 | 989073 | Remapped | 1 | ||||||||
| estd194 | essv4801108 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 880017 | 880018 | Remapped | 1 | ||||||||
| estd194 | essv4803716 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 932614 | 932618 | Remapped | 1 | ||||||||
| estd194 | essv4804954 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 927443 | 927443 | Remapped | 1 | ||||||||
| estd194 | essv4806117 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 832740 | 832743 | Remapped | 1 | ||||||||
| estd194 | essv4808845 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1282559 | 1282559 | Remapped | 1 | ||||||||
| estd194 | essv4825575 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1010482 | 1010486 | Remapped | 1 | ||||||||
| estd194 | essv4830392 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 969378 | 969378 | Remapped | 1 | ||||||||
| estd194 | essv4836461 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1134144 | 1134144 | Remapped | 1 | ||||||||
| estd194 | essv4838940 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 888569 | 888573 | Remapped | 1 | ||||||||
| estd194 | essv4840410 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1004112 | 1004113 | Remapped | 1 | ||||||||
| estd194 | essv4857965 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 995509 | 995514 | Remapped | 1 | ||||||||
| estd194 | essv4858101 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1279729 | 1279730 | Remapped | 1 | ||||||||
| estd194 | essv4862440 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1039411 | 1039411 | Remapped | 1 | ||||||||
| estd194 | essv4863227 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 885462 | 885462 | Remapped | 1 | ||||||||
| estd194 | essv4865218 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 911221 | 911222 | Remapped | 1 | ||||||||
| estd194 | essv4868723 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 937407 | 937409 | Remapped | 1 | ||||||||
| estd194 | essv4869347 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1050064 | 1050065 | Remapped | 1 | ||||||||
| estd194 | essv4871347 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 888360 | 888360 | Remapped | 1 | ||||||||
| estd194 | essv4906767 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1250839 | 1250839 | Remapped | 1 | ||||||||
| estd194 | essv4917137 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 871923 | 871923 | Remapped | 1 | ||||||||
| estd194 | essv4918074 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 881794 | 881795 | Remapped | 1 | ||||||||
| estd194 | essv4926622 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1013467 | 1013467 | Remapped | 1 | ||||||||
| estd194 | essv4930292 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1059926 | 1059927 | Remapped | 1 | ||||||||
| estd194 | essv4939961 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 890012 | 890015 | Remapped | 1 | ||||||||
| estd194 | essv4948927 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1002193 | 1002193 | Remapped | 1 | ||||||||
| estd194 | essv4949454 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 969489 | 969491 | Remapped | 1 | ||||||||
| estd194 | essv4949890 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 879449 | 879449 | Remapped | 1 | ||||||||
| estd194 | essv4950836 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1062390 | 1062391 | Remapped | 1 | ||||||||
| estd194 | essv4954092 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1104819 | 1104820 | Remapped | 1 | ||||||||
| estd194 | essv4959068 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 969664 | 969666 | Remapped | 1 | ||||||||
| estd194 | essv4959341 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1035182 | 1035184 | Remapped | 1 | ||||||||
| estd194 | essv4960847 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1297052 | 1297054 | Remapped | 1 | ||||||||
| estd194 | essv4962428 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 888959 | 888960 | Remapped | 1 | ||||||||
| estd194 | essv4975226 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 933742 | 933742 | Remapped | 1 | ||||||||
| estd194 | essv4976893 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 1162028 | 1162032 | Remapped | 1 | ||||||||
| estd194 | essv4980746 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 950670 | 950673 | Remapped | 1 | ||||||||
| estd194 | essv4998073 | deletion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 969649 | 969653 | Remapped | 1 | ||||||||
| estd194 | essv4998976 | insertion | Sequencing | Split read mapping | No | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 842923 | 842923 | Remapped | 1 |